# RGD-PIPELINE: ftp-file-extracts
# MODULE: annotations-version-1.2.0 (Jul 27, 2026)
# GENERATED-ON: 2026/08/15
# PURPOSE: annotations about active Rat objects extracted from RGD database
# ONTOLOGY: RDO: RGD Disease Ontology
# CONTACT: rgd.data@mcw.edu
# FORMAT: tab delimited text
# NOTES: multiple values in a single column are separated by '|'
#
# MIGRATION NOTE (July 2026): these files were previously located in the
#   'annotated_rgd_objects_by_ontology/with_terms' directory and named using the organism
#   genus (f.e. 'rattus_terms_go'). They are now located in the 'annotations/with_terms' directory,
#   named with the RGD species short name (f.e. 'rat_terms_go.txt.gz'), and gzip-compressed.
#
#COLUMN INFORMATION:
#
#1   RGD_ID	          unique RGD_ID of the annotated object
#2   OBJECT_SYMBOL      official symbol of the annotated object
#3   OBJECT_NAME        official name of the annotated object
#4   OBJECT_TYPE        annotated object data type: one of ['gene','qtl','strain']
#5   TERM_ACC_ID        ontology term accession id
#6   TERM_NAME          ontology term name
#7   QUALIFIER          optional qualifier
#8   EVIDENCE           evidence
#9   WITH               with info
#10  ASPECT             aspect
#11  REFERENCES         db references (Reference RGDID|PUBMED ID)
#12  CREATED_DATE       created date
#13  ASSIGNED_BY        assigned by
#14  MESH_OMIM_ID       MESH:xxx or OMIM:xxx id corresponding to RDO:xxx id found in TERM_ACC_ID column (RGD/CTD Disease Ontology annotations only)
#15  CURATION_NOTES     curation notes provided by RGD curators
#16  ORIGINAL_REFERENCE original reference
RGD_ID	OBJECT_SYMBOL	OBJECT_NAME	OBJECT_TYPE	TERM_ACC_ID	TERM_NAME	QUALIFIER	EVIDENCE	WITH	ASPECT	REFERENCES	CREATED_DATE	ASSIGNED_BY	MESH_OMIM_ID	CURATION_NOTES	ORIGINAL_REFERENCE
10002	BBDP/Rhw		strain	DOID:9008671	T-Lymphocytopenia		IMP		D	RGD:61032|PMID:9530633	20201027	RGD			
10002	BBDP/Rhw		strain	DOID:9744	type 1 diabetes mellitus	MODEL: spontaneous	IAGP		D	RGD:1598569|PMID:17130479	20210219	RGD			
10002	BBDP/Rhw		strain	DOID:9744	type 1 diabetes mellitus	MODEL: spontaneous	IAGP		D	RGD:2306526|PMID:19351909	20210219	RGD			
10002	BBDP/Rhw		strain	DOID:9744	type 1 diabetes mellitus	MODEL: spontaneous	IAGP		D	RGD:61032|PMID:9530633	20201027	RGD			
10002743	DA.E3-(<i>D20Rat42-D20Rat49</i>)/Rhd		strain	DOID:9002457	Experimental Arthritis	severity	IAGP	XCO:0000265,XCO:0000281	D	RGD:737659|PMID:8972741	20200814	RGD		compared to LEW.1AV1/Kini	
10002743	DA.E3-(<i>D20Rat42-D20Rat49</i>)/Rhd		strain	DOID:9002457	Experimental Arthritis	susceptibility	IAGP	XCO:0000265	D	RGD:737659|PMID:8972741	20200814	RGD			
10002745	DA.E3-(<i>D20Rat47-AA858870</i>)/Rhd		strain	DOID:9002211	Hyperalgesia	susceptibility	IAGP		D	RGD:10002747|PMID:20471989	20150423	RGD		compared to DA/ZtmRhd	
10008	BN/SsNHsd		strain	DOID:9005396	Intimal Hyperplasia	induces	IAGP	XCO:0000268	D	RGD:39456133|PMID:10364562	20210713	RGD		compared to SHR	
10008	BN/SsNHsd		strain	DOID:9008939	Breast Neoplasms	MODEL: control	IAGP	XCO:0000092	D	RGD:1642522|PMID:16885383	20200317	RGD			
10011	COP/OlaHsd		strain	DOID:3459	breast carcinoma	MODEL: control	IAGP	XCO:0000090	D	RGD:61081|PMID:9584103	20200310	RGD			
10016	GH/Omr	Genetically Hypertensive	strain	DOID:10763	hypertension		IAGP		D	RGD:2301936|PMID:18925692	20191125	RGD			
10016	GH/Omr	Genetically Hypertensive	strain	DOID:9004616	Left Ventricular Hypertrophy		IAGP		D	RGD:2301936|PMID:18925692	20191125	RGD		associated with hypertension	
10017	GK/KyoSwe	Goto Kakizaki	strain	DOID:10603	glucose intolerance		IAGP		D	RGD:61082|PMID:8528247	20200303	RGD			
10017	GK/KyoSwe	Goto Kakizaki	strain	DOID:4195	hyperglycemia		IAGP		D	RGD:61082|PMID:8528247	20200303	RGD			
10017	GK/KyoSwe	Goto Kakizaki	strain	DOID:4195	hyperglycemia		IAGP		D	RGD:626167414|PMID:8436249	20250825	RGD		compared to control Wistar	
10017	GK/KyoSwe	Goto Kakizaki	strain	DOID:9352	type 2 diabetes mellitus	MODEL: spontaneous	IAGP		D	RGD:61082|PMID:8528247	20191126	RGD			
10021	LH/Mav		strain	DOID:10763	hypertension	MODEL: spontaneous	IAGP		D	RGD:13513906|PMID:16882881	20200214	RGD		compared to LL/Mav	
10021	LH/Mav		strain	DOID:10763	hypertension	MODEL: spontaneous	IAGP		D	RGD:1580389|PMID:8301098	19990101	RGD		compared to LN/Mav	
10021	LH/Mav		strain	DOID:10763	hypertension	MODEL: spontaneous	IAGP		D	RGD:2313340|PMID:19462495	20200207	RGD			
10021	LH/Mav		strain	DOID:10763	hypertension	MODEL: spontaneous	IAGP		D	RGD:2316962|PMID:16928787	20191202	RGD		compared to LL/Mav	
10021	LH/Mav		strain	DOID:10763	hypertension	MODEL: spontaneous	IAGP		D	RGD:61057|PMID:7981757	19990101	RGD		compared to LN/Mav	
10021	LH/Mav		strain	DOID:10763	hypertension	MODEL: spontaneous	IAGP		D	RGD:61058|PMID:9329963	20191202	RGD		compared to LN/Mav	
10021	LH/Mav		strain	DOID:10763	hypertension	induces	IAGP	XCO:0000241	D	RGD:13441562|PMID:18443571	20200403	RGD		associated with diabetes mellitus	
10021	LH/Mav		strain	DOID:10763	hypertension	treatment	IAGP	XCO:0000588	D	RGD:13441562|PMID:18443571	20191126	RGD		associated with diabetes mellitus	
10021	LH/Mav		strain	DOID:2018	hyperinsulinism		IAGP		D	RGD:1580389|PMID:8301098	19990101	RGD		compared to LN/Mav	
10021	LH/Mav		strain	DOID:576	proteinuria	induces	IAGP	XCO:0000164	D	RGD:2313340|PMID:19462495	20200207	RGD		compared to BN/NHsdMcwi	
10021	LH/Mav		strain	DOID:576	proteinuria	treatment	IAGP	XCO:0000588	D	RGD:13441561|PMID:18954523	20200221	RGD			
10021	LH/Mav		strain	DOID:9000808	Hypercholesterolemia		IAGP		D	RGD:13441562|PMID:18443571	20191126	RGD		compared to LL/Mav	
10021	LH/Mav		strain	DOID:9000808	Hypercholesterolemia		IAGP		D	RGD:1580389|PMID:8301098	19990101	RGD		compared to LN/Mav	
10021	LH/Mav		strain	DOID:9004616	Left Ventricular Hypertrophy	MODEL: spontaneous	IAGP		D	RGD:13513906|PMID:16882881	20200214	RGD		compared to LL/Mav	
10021	LH/Mav		strain	DOID:9004616	Left Ventricular Hypertrophy	MODEL: spontaneous	IAGP		D	RGD:2316962|PMID:16928787	20191202	RGD		compared to LL/Mav	
10021	LH/Mav		strain	DOID:9004616	Left Ventricular Hypertrophy	ameliorates	IAGP	XCO:0000588	D	RGD:13441562|PMID:18443571	20210122	RGD		associated with diabetes mellitus	
10021	LH/Mav		strain	DOID:9004616	Left Ventricular Hypertrophy	induces	IAGP	XCO:0000241	D	RGD:13441562|PMID:18443571	20200403	RGD		associated with diabetes mellitus	
10021	LH/Mav		strain	DOID:9004616	Left Ventricular Hypertrophy	treatment	IAGP	XCO:0000588	D	RGD:13441562|PMID:18443571	20200117	RGD		associated with diabetes mellitus	
10021	LH/Mav		strain	DOID:9005274	Polyuria	MODEL:induced	IAGP	XCO:0000241	D	RGD:13441562|PMID:18443571	20191126	RGD		associated with diabetes mellitus	
10021	LH/Mav		strain	DOID:9006599	Hypertriglyceridemia		IAGP		D	RGD:1580389|PMID:8301098	19990101	RGD		compared to LN/Mav	
10021	LH/Mav		strain	DOID:9351	diabetes mellitus	MODEL: induced	IAGP	XCO:0000241	D	RGD:13441562|PMID:18443571	20191126	RGD		compared to LL/Mav	
10021	LH/Mav		strain	DOID:9970	obesity		IAGP		D	RGD:1580389|PMID:8301098	19990101	RGD		compared to LN/Mav	
10022	LN/Mav		strain	DOID:10763	hypertension	MODEL: control	IAGP		D	RGD:1580389|PMID:8301098	20191203	RGD		compared with LH/Mav	
10022	LN/Mav		strain	DOID:10763	hypertension	MODEL: control	IAGP		D	RGD:61057|PMID:7981757	20191203	RGD		compared with LH/Mav	
10022	LN/Mav		strain	DOID:10763	hypertension	MODEL: control	IAGP		D	RGD:61058|PMID:9329963	20191203	RGD		compared with LH/Mav	
10025	MHS/Gib	Milan Hypertensive Strain	strain	DOID:10763	hypertension		IAGP		D	RGD:126925235|PMID:3611769	20210707	RGD		compared to MNS/Gib	
10025	MHS/Gib	Milan Hypertensive Strain	strain	DOID:10763	hypertension		IAGP		D	RGD:69692|PMID:11082136	19990101	RGD		compared to MNS/Gib	
10040	SR/Jr	Salt Resistant	strain	DOID:10763	hypertension	MODEL: control	IAGP	XCO:0000022	D	RGD:61040|PMID:9685318	19990101	RGD		compared to SS/Jr	
10041	SS/Jr	Salt Sensitive	strain	DOID:0051064	left ventricular failure	induces	IAGP	XCO:0000022	D	RGD:2301185|PMID:18806617	20100611	RGD			
10041	SS/Jr	Salt Sensitive	strain	DOID:10763	hypertension		IAGP		D	RGD:634617|PMID:12707388	19990101	RGD			
10041	SS/Jr	Salt Sensitive	strain	DOID:10763	hypertension	MODEL	IAGP		D	RGD:8657072|PMID:21602714	20210108	RGD		compared to congenics with Lewis alleles	
10041	SS/Jr	Salt Sensitive	strain	DOID:10763	hypertension	MODEL: induced	IAGP		D	RGD:704345|PMID:12939233	20201022	RGD		compared to Lewis rat and congenics	
10041	SS/Jr	Salt Sensitive	strain	DOID:10763	hypertension	MODEL: induced	IAGP	XCO:0000022	D	RGD:61040|PMID:9685318	19990101	RGD		compared to SR/Jr, LEW/Ncrl	
10041	SS/Jr	Salt Sensitive	strain	DOID:10763	hypertension	MODEL: induced	IAGP	XCO:0000022	D	RGD:61516|PMID:11015598	19990101	RGD		compared to SS/Jr strain	
10041	SS/Jr	Salt Sensitive	strain	DOID:10763	hypertension	MODEL: induced	IAGP	XCO:0000022	D	RGD:619649|PMID:11875185	20200109	RGD		compared to SS.LEW-(D5Rat130-D5Mco10)/Jr; MMO:0000031	
10041	SS/Jr	Salt Sensitive	strain	DOID:10763	hypertension	MODEL: induced	IAGP	XCO:0000022	D	RGD:69710|PMID:9383281	19990101	RGD		compared to SS.SR-(Cyp11b1)/Jr strain	
10041	SS/Jr	Salt Sensitive	strain	DOID:9001542	Albuminuria		IAGP		D	RGD:634617|PMID:12707388	19990101	RGD		compared to SHR/NHsd	
10041	SS/Jr	Salt Sensitive	strain	DOID:9003631	Diastolic Dysfunction	induces	IAGP	XCO:0000022	D	RGD:7421631|PMID:19461651	20201215	RGD		compared to C2S.M21	
10041	SS/Jr	Salt Sensitive	strain	DOID:9004616	Left Ventricular Hypertrophy	induces	IAGP	XCO:0000022	D	RGD:2301185|PMID:18806617	20100611	RGD			
10041	SS/Jr	Salt Sensitive	strain	DOID:9006024	Hypotension	MODEL: control	IAGP	XCO:0000022	D	RGD:7421631|PMID:19461651	20201215	RGD		compared to congenics	
10043120	BBDP.ACI-(<i>D2Mit8-D2Rat69</i>)/Sunn		strain	DOID:9744	type 1 diabetes mellitus	onset	IAGP		D	RGD:10043114|PMID:24920533	20200302	RGD		compared to BBDP/WorSunn and BBDP.ACI-(D2Mit8-D2Arb16)(D2Rat354-D2Rat69)/Sunn	
10043122	BBDP.ACI-(<i>D2Mit8-D2Arb16</i>)(<i>D2Rat354-D2Rat69</i>)/Sunn		strain	DOID:9744	type 1 diabetes mellitus	onset	IAGP		D	RGD:10043114|PMID:24920533	20200302	RGD		compared to BBDP/WorSunn and BBDP.ACI-(D2Mit8-D2Rat69)/Sunn	
10043124	BBDP.ACI-(<i>D2Mit8-D2Arb16</i>)/Sunn		strain	DOID:9744	type 1 diabetes mellitus	onset	IAGP		D	RGD:10043114|PMID:24920533	20200302	RGD		compared to BBDP/WorSunn	
10043127	BBDP.ACI-(<i>D2Mit8-D2Rat354</i>)/Sunn		strain	DOID:9744	type 1 diabetes mellitus	onset	IAGP		D	RGD:10043114|PMID:24920533	20200302	RGD		compared to BBDP/WorSunn	
10043132	BBDP.ACI-(<i>D2Rat50-D2Rat63</i>)/Sunn		strain	DOID:9744	type 1 diabetes mellitus	onset	IAGP		D	RGD:10043114|PMID:24920533	20200302	RGD		compared to BBDP/WorSunn	
10043136	Iddm54	Insulin dependent diabetes mellitus QTL 54	qtl	DOID:9744	type 1 diabetes mellitus	susceptibility	IAGP		D	RGD:10043114|PMID:24920533	20150617	RGD			
10043139	Iddm55	Insulin dependent diabetes mellitus QTL 55	qtl	DOID:9744	type 1 diabetes mellitus	susceptibility	IAGP		D	RGD:10043114|PMID:24920533	20150617	RGD			
10045371	Mir155hg	Mir155 host gene	gene	DOID:3069	malignant astrocytoma	severity	ISO	RGD:1350378	D	RGD:11571728|PMID:27764782	20190121	RGD			
10045371	Mir155hg	Mir155 host gene	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10045545	CDS/Sasz	Cohen diabetic-sensitive rat	strain	DOID:9005643	Experimental Diabetes Mellitus	MODEL: induced	IAGP	XCO:0000014	D	RGD:1342468|PMID:11679430	20200205	RGD		compared to CDr/Sasz; sexual dimorphism	
10045545	CDS/Sasz	Cohen diabetic-sensitive rat	strain	DOID:9351	diabetes mellitus	MODEL: induced	IAGP	XCO:0000014	D	RGD:1342468|PMID:11679430	20200205	RGD		compared to CDr/Sasz; sexual dimorphism	
10045548	CDR/Sasz	Cohen diabetic-resistant rat	strain	DOID:9005643	Experimental Diabetes Mellitus	MODEL: control	IAGP	XCO:0000014	D	RGD:1342468|PMID:11679430	20200205	RGD		compared to CDS/Sasz; sexual dimorphism	
10045548	CDR/Sasz	Cohen diabetic-resistant rat	strain	DOID:9351	diabetes mellitus	MODEL: control	IAGP	XCO:0000014	D	RGD:1342468|PMID:11679430	20200205	RGD		compared to CDS/Sasz; sexual dimorphism	
10045592	Dmd<sup>em1Kykn</sup>	dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi	gene	DOID:11723	Duchenne muscular dystrophy		IMP		D	RGD:11040981|PMID:25005781	20170501	RGD			
10045593	WIC-<i>Dmd<sup>em1Kykn</sup></i>		strain	DOID:11723	Duchenne muscular dystrophy	MODEL: spontaneous	IMP		D	RGD:11040981|PMID:25005781	20170501	RGD			
10047	WTC/Kyo		strain	DOID:9000495	Tremor	MODEL: control	IAGP		D	RGD:11060746|PMID:25970616	20200910	RGD		compared to TRM/Kyo and TRMR/Kyo	
10047391	LE/OrlBarth	Long-Evans/Cryptorchid	strain	DOID:11383	cryptorchidism	MODEL: spontaneous	IAGP		D	RGD:12911229|PMID:26502805	20180607	RGD			
10053596	Foxn1<sup>em1Nips</sup>	forkhead box N1; CRISPR/Cas9 system induced mutant 1, National Institute for Physiological Sciences	gene	DOID:9004911	Thymus Hyperplasia		IMP		D	RGD:11568681|PMID:26931321	20201210	RGD			
10053598	WI-<i>Foxn1<sup>em1Nips</sup></i>		strain	DOID:9004911	Thymus Hyperplasia		IMP		D	RGD:11568681|PMID:26931321	20161212	RGD			
10053598	WI-<i>Foxn1<sup>em1Nips</sup></i>		strain	DOID:9004911	Thymus Hyperplasia	MODEL:spontaneous	IMP		D	RGD:11568681|PMID:26931321	20161212	RGD			
10053599	Foxn1<sup>em2Nips</sup>	forkhead box N1; CRISPR/Cas9 system induced mutant 2, National Institute for Physiological Sciences	gene	DOID:9004911	Thymus Hyperplasia		IMP		D	RGD:11568681|PMID:26931321	20201210	RGD			
10053601	WI-<i>Foxn1<sup>em2Nips</sup></i>		strain	DOID:9004911	Thymus Hyperplasia		IMP		D	RGD:11568681|PMID:26931321	20161212	RGD			
10053601	WI-<i>Foxn1<sup>em2Nips</sup></i>		strain	DOID:9004911	Thymus Hyperplasia	MODEL:spontaneous	IMP		D	RGD:11568681|PMID:26931321	20161212	RGD			
10053700	Scort23	Serum corticosterone level QTL 23	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10053715	Scort24	Serum corticosterone level QTL 24	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10053718	Scort25	Serum corticosterone level QTL 25	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10053720	Scort26	Serum corticosterone level QTL 26	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10053722	Scort27	Serum corticosterone level QTL 27	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10054088	Scort28	Serum corticosterone level QTL 28	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10054123	Srcrt6	Stress Responsive Cort QTL 6	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10054125	Srcrt7	Stress Responsive Cort QTL 7	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10054130	Srcrt8	Stress Responsive Cort QTL 8	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10054132	Srcrt9	Stress Responsive Cort QTL 9	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10054135	Gmadr2	Adrenal mass QTL 2	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10054138	Gmadr3	Adrenal mass QTL 3	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10054141	Gmadr4	Adrenal mass QTL 4	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10054395	Gla<sup>em2Mcwi</sup>	galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin	gene	DOID:14499	Fabry disease		IMP		D	RGD:150429980|PMID:29563343	20211021	RGD		compared to wild type	
10054395	Gla<sup>em2Mcwi</sup>	galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin	gene	DOID:14499	Fabry disease		IMP		D	RGD:401976416|PMID:29979634	20240321	RGD		compared to wild type	
10054395	Gla<sup>em2Mcwi</sup>	galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin	gene	DOID:14499	Fabry disease		IMP		D	RGD:401976418|PMID:34320241	20240229	RGD		compared to wild type	
10054395	Gla<sup>em2Mcwi</sup>	galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin	gene	DOID:14499	Fabry disease		IMP		D	RGD:401976419|PMID:34541380	20240229	RGD		compared to wild type	
10054395	Gla<sup>em2Mcwi</sup>	galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin	gene	DOID:3211	lysosomal storage disease		IMP		D	RGD:150429980|PMID:29563343	20211021	RGD		compared to wild type	
10054395	Gla<sup>em2Mcwi</sup>	galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin	gene	DOID:9000641	Pain		IMP		D	RGD:150429980|PMID:29563343	20211021	RGD		compared to wild type	
10054398	DA-<i>Gla<sup>em2Mcwi</sup></i>		strain	DOID:14499	Fabry disease		IMP		D	RGD:150429980|PMID:29563343	20211020	RGD		compared to wild type	
10054398	DA-<i>Gla<sup>em2Mcwi</sup></i>		strain	DOID:14499	Fabry disease	MODEL	IMP		D	RGD:401976416|PMID:29979634	20240319	RGD		compared to wild type	
10054398	DA-<i>Gla<sup>em2Mcwi</sup></i>		strain	DOID:14499	Fabry disease	MODEL	IMP		D	RGD:401976418|PMID:34320241	20240227	RGD		compared to wild type	
10054398	DA-<i>Gla<sup>em2Mcwi</sup></i>		strain	DOID:14499	Fabry disease	MODEL	IMP		D	RGD:401976419|PMID:34541380	20240227	RGD		compared to wild type	
10054398	DA-<i>Gla<sup>em2Mcwi</sup></i>		strain	DOID:3211	lysosomal storage disease		IMP		D	RGD:150429980|PMID:29563343	20211020	RGD		compared to wild type	
10054398	DA-<i>Gla<sup>em2Mcwi</sup></i>		strain	DOID:9000641	Pain		IMP		D	RGD:150429980|PMID:29563343	20211020	RGD		compared to wild type	
10058949	Gmadr5	Adrenal mass QTL 5	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10058952	Gmadr6	Adrenal mass QTL 6	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10058954	Gmadr7	Adrenal mass QTL 7	qtl	DOID:9003968	Stress-Induced Hypertension		IAGP		D	RGD:10053640|PMID:21029000	20150812	RGD			
10059587	Bw173	Body weight QTL 173	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10053637|PMID:23302051	20150923	RGD			
10059590	Kidm44	Kidney mass QTL 44	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10053637|PMID:23302051	20150923	RGD			
10059592	Kidm45	Kidney mass QTL 45	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10053637|PMID:23302051	20150923	RGD			
10059594	Kidm46	Kidney mass QTL 46	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10053637|PMID:23302051	20150923	RGD			
10059597	Bp377	Blood pressure QTL 377	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10053637|PMID:23302051	20150923	RGD			
10059600	Bp378	Blood pressure QTL 378	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10053637|PMID:23302051	20150923	RGD			
10059603	Bw174	Body weight QTL 174	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10053637|PMID:23302051	20150923	RGD			
10059605	Kidm47	Kidney mass QTL 47	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10053637|PMID:23302051	20150923	RGD			
10059729	Baiap3	BAI1-associated protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
10059729	Baiap3	BAI1-associated protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10059729	Baiap3	BAI1-associated protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
10059729	Baiap3	BAI1-associated protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1318052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
10059729	Baiap3	BAI1-associated protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1318052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
10059729	Baiap3	BAI1-associated protein 3	gene	DOID:1909	melanoma		ISO	RGD:1318052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
10059729	Baiap3	BAI1-associated protein 3	gene	DOID:2843	long QT syndrome		ISO	RGD:1318052	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
10059729	Baiap3	BAI1-associated protein 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
10059729	Baiap3	BAI1-associated protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10059729	Baiap3	BAI1-associated protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
10059729	Baiap3	BAI1-associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10059729	Baiap3	BAI1-associated protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
10059729	Baiap3	BAI1-associated protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
10398754	Mirlet7bhg	Mirlet7b host gene	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:2304161	D	RGD:152998959|PMID:26199339	20220708	RGD		DNA:SNPs:multiple	
10398754	Mirlet7bhg	Mirlet7b host gene	gene	DOID:4362	cervical cancer		ISO	RGD:2304161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
10398754	Mirlet7bhg	Mirlet7b host gene	gene	DOID:5041	esophageal cancer		ISO	RGD:2304161	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
10398754	Mirlet7bhg	Mirlet7b host gene	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2304161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10398754	Mirlet7bhg	Mirlet7b host gene	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2304161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
10398754	Mirlet7bhg	Mirlet7b host gene	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:2304161	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:26199339
10401149	Mtln	mitoregulin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2303856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
10401208	F344-Tg(Prp-APP,Prp-PS1)19/Rrrc		strain	DOID:680	tauopathy		IAGP		D	RGD:10401209|PMID:23575824	20210115	RGD			
10401674	Carmn	cardiac mesoderm enhancer-associated non-coding RNA	gene	DOID:1936	atherosclerosis		ISO	RGD:5490463	D	RGD:155882579|PMID:34289702	20230131	RGD		RNA:decreased expression:carotid artery	
10401674	Carmn	cardiac mesoderm enhancer-associated non-coding RNA	gene	DOID:1936	atherosclerosis	disease_progression	ISO	RGD:7181169	D	RGD:155882579|PMID:34289702	20230131	RGD			
10401674	Carmn	cardiac mesoderm enhancer-associated non-coding RNA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:5490463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
10401674	Carmn	cardiac mesoderm enhancer-associated non-coding RNA	gene	DOID:9000146	Plaque, Atherosclerotic	ameliorates	ISO	RGD:7181169	D	RGD:155882579|PMID:34289702	20230131	RGD			
10401674	Carmn	cardiac mesoderm enhancer-associated non-coding RNA	gene	DOID:9002514	Neointima	ameliorates	IDA		D	RGD:155883160|PMID:34694145	20230202	RGD			
10401674	Carmn	cardiac mesoderm enhancer-associated non-coding RNA	gene	DOID:9002514	Neointima	exacerbates	ISO	RGD:7181169	D	RGD:155883160|PMID:34694145	20230202	RGD			
10401674	Carmn	cardiac mesoderm enhancer-associated non-coding RNA	gene	DOID:9006182	Carotid Artery Injuries		IEP		D	RGD:155883160|PMID:34694145	20230202	RGD		mRNA:decreased expression:carotid artery:	
10401796	Kidm48	Kidney mass QTL 48	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10045846|PMID:25707311	20151007	RGD			
10401800	Kidm49	Kidney mass QTL 49	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10045846|PMID:25707311	20151007	RGD			
10401803	Kidm50	Kidney mass QTL 50	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10045846|PMID:25707311	20151007	RGD			
10401805	Kidm51	Kidney mass QTL 51	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10045846|PMID:25707311	20151007	RGD			
10401807	Kidm52	Kidney mass QTL 52	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10045846|PMID:25707311	20151007	RGD			
10401810	Kidm53	Kidney mass QTL 53	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10045846|PMID:25707311	20151007	RGD			
10401812	Kidm54	Kidney mass QTL 54	qtl	DOID:9003968	Stress-Induced Hypertension		IDA		D	RGD:10045846|PMID:25707311	20151007	RGD			
10401835	WKY.F344-(<i>D17Got91-D17Rat51</i>)/Tja		strain	DOID:9006102	Right Ventricular Hypertrophy	severity	IAGP	XCO:0000010	D	RGD:10401832|PMID:26258299	20151014	RGD		compared to WKY/Cruk; similar to F344/NHsd	
10401835	WKY.F344-(<i>D17Got91-D17Rat51</i>)/Tja		strain	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	severity	IAGP	XCO:0000010	D	RGD:10401832|PMID:26258299	20151014	RGD		compared to WKY/Cruk	
10401837	WKY.F344-(<i>D17Got91-D17Rat47</i>)/Tja		strain	DOID:9006102	Right Ventricular Hypertrophy	induces	IAGP	XCO:0000010	D	RGD:10401832|PMID:26258299	20151014	RGD			
10401837	WKY.F344-(<i>D17Got91-D17Rat47</i>)/Tja		strain	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	induces	IAGP	XCO:0000010	D	RGD:10401832|PMID:26258299	20151014	RGD			
10401839	WKY.F344-(<i>D17Rat47-D17Rat51</i>)/Tja		strain	DOID:9006102	Right Ventricular Hypertrophy	severity	IAGP	XCO:0000010	D	RGD:10401832|PMID:26258299	20151014	RGD		compared to WKY/Cruk; similar to F344/NHsd	
10401839	WKY.F344-(<i>D17Rat47-D17Rat51</i>)/Tja		strain	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	severity	IAGP	XCO:0000010	D	RGD:10401832|PMID:26258299	20151014	RGD		compared to WKY/Cruk	
10401841	WKY.F344-(<i>D17Rat131-D17Rat51</i>)/Tja		strain	DOID:9006102	Right Ventricular Hypertrophy	induces	IAGP	XCO:0000010	D	RGD:10401832|PMID:26258299	20151014	RGD			
10401841	WKY.F344-(<i>D17Rat131-D17Rat51</i>)/Tja		strain	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	induces	IAGP	XCO:0000010	D	RGD:10401832|PMID:26258299	20151014	RGD			
10401842	Slc39a12<sup>em77Tja</sup>	solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman	gene	DOID:9006102	Right Ventricular Hypertrophy		IMP		D	RGD:10401832|PMID:26258299	20200130	RGD			
10401842	Slc39a12<sup>em77Tja</sup>	solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman	gene	DOID:9006102	Right Ventricular Hypertrophy	severity	IMP	XCO:0000010	D	RGD:10401832|PMID:26258299	20201210	RGD			
10401842	Slc39a12<sup>em77Tja</sup>	solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced		IMP		D	RGD:10401832|PMID:26258299	20200130	RGD			
10401842	Slc39a12<sup>em77Tja</sup>	solute carrier family 39 (zinc transporter), member 12; zinc finger nuclease induced mutant 77, Timothy J. Aitman	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	severity	IMP	XCO:0000010	D	RGD:10401832|PMID:26258299	20201210	RGD			
10401845	WKY-<i>Slc39a12<sup>em77Tja+/-</sup></i>	WKY-<i>Slc39a12<sup>em77Tja+</sup></i>/WKY-<i>Slc39a12<sup>em77Tja-</sup></i>	strain	DOID:9006102	Right Ventricular Hypertrophy	induces	IMP	XCO:0000010	D	RGD:10401832|PMID:26258299	20151014	RGD			
10401845	WKY-<i>Slc39a12<sup>em77Tja+/-</sup></i>	WKY-<i>Slc39a12<sup>em77Tja+</sup></i>/WKY-<i>Slc39a12<sup>em77Tja-</sup></i>	strain	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	induces	IMP	XCO:0000010	D	RGD:10401832|PMID:26258299	20151014	RGD			
10401848	WKY-<i>Slc39a12<sup>em77Tja-/-</sup></i>	WKY-<i>Slc39a12<sup>em77Tja-</sup></i>/WKY-<i>Slc39a12<sup>em77Tja-</sup></i>	strain	DOID:9006102	Right Ventricular Hypertrophy	severity	IMP	XCO:0000010	D	RGD:10401832|PMID:26258299	20151014	RGD			
10401848	WKY-<i>Slc39a12<sup>em77Tja-/-</sup></i>	WKY-<i>Slc39a12<sup>em77Tja-</sup></i>/WKY-<i>Slc39a12<sup>em77Tja-</sup></i>	strain	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	severity	IMP	XCO:0000010	D	RGD:10401832|PMID:26258299	20151014	RGD			
10401918	BDIX/HanHsd		strain	DOID:9009121	lung metastasis	treatment	IAGP		D	RGD:150527857|PMID:7818325	20211206	RGD			
10402051	Gdil2	Gastrointestinal dilation QTL 2	qtl	DOID:10487	Hirschsprung's disease	severity	IDA		D	RGD:10402048|PMID:25790447	20151014	RGD			
10402051	Gdil2	Gastrointestinal dilation QTL 2	qtl	DOID:9003546	Total Intestinal Aganglionosis	severity	IDA		D	RGD:10402048|PMID:25790447	20151014	RGD			
10402855	Bp379	Blood pressure QTL 379	qtl	DOID:10763	hypertension		IAGP		D	RGD:10402053|PMID:25963546	20151130	RGD			
10402857	Bp380	Blood pressure QTL 380	qtl	DOID:10763	hypertension		IAGP		D	RGD:10402053|PMID:25963546	20151130	RGD			
10402859	Bp381	Blood pressure QTL 381	qtl	DOID:10763	hypertension		IAGP		D	RGD:10402053|PMID:25963546	20151130	RGD			
10413846	Abcc6<sup>em2Qlju</sup>	ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 2, Qiaoli Li	gene	DOID:2738	pseudoxanthoma elasticum		IMP		D	RGD:13792593|PMID:28111129	20180920	RGD			
10413847	Abcc6<sup>em3Qlju</sup>	ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 3, Qiaoli Li	gene	DOID:2738	pseudoxanthoma elasticum		IMP		D	RGD:13792593|PMID:28111129	20180920	RGD			
10413848	Abcc6<sup>em4Qlju</sup>	ATP-binding cassette, subfamily C (CFTR/MRP), member 6; zinc finger nuclease induced mutant 4, Qiaoli Li	gene	DOID:2738	pseudoxanthoma elasticum		IMP		D	RGD:13792593|PMID:28111129	20180920	RGD			
10413852	SD-<i>Abcc6<sup>em2Qlju-/-</sup></i>		strain	DOID:2738	pseudoxanthoma elasticum	MODEL: spontaneous	IMP		D	RGD:13792593|PMID:28111129	20180920	RGD			
10413854	SD-<i>Abcc6<sup>em3Qlju-/-</sup></i>		strain	DOID:2738	pseudoxanthoma elasticum		IMP		D	RGD:13792593|PMID:28111129	20180920	RGD			
10413856	SD-<i>Abcc6<sup>em4Qlju-/-</sup></i>		strain	DOID:2738	pseudoxanthoma elasticum		IMP		D	RGD:13792593|PMID:28111129	20180920	RGD			
10450493	Bp382	Blood pressure QTL 382	qtl	DOID:10763	hypertension		IAGP		D	RGD:10402053|PMID:25963546	20160114	RGD			
10450495	Bp383	Blood pressure QTL 383	qtl	DOID:10763	hypertension		IAGP		D	RGD:10402053|PMID:25963546	20160114	RGD			
10450498	Bp384	Blood pressure QTL 384	qtl	DOID:10763	hypertension		IAGP		D	RGD:10402053|PMID:25963546	20160114	RGD			
10450500	Bp385	Blood pressure QTL 385	qtl	DOID:10763	hypertension		IAGP		D	RGD:10402053|PMID:25963546	20160114	RGD			
10450503	Bp386	Blood pressure QTL 386	qtl	DOID:10763	hypertension		IAGP		D	RGD:10402053|PMID:25963546	20160114	RGD			
10450794	Scl69	Serum cholesterol level QTL 69	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450804	Scl70	Serum cholesterol level QTL 70	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450806	Scl71	Serum cholesterol level QTL 71	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450808	Scl72	Serum cholesterol level QTL 72	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450811	Scl73	Serum cholesterol level QTL 73	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450813	Scl74	Serum cholesterol level QTL 74	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450816	Scl75	Serum cholesterol level QTL 75	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450818	Scl76	Serum cholesterol level QTL 76	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450821	Scl77	Serum cholesterol level QTL 77	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450825	Scl78	Serum cholesterol level QTL 78	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450828	Scl79	Serum cholesterol level QTL 79	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450831	Scl80	Serum cholesterol level QTL 80	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450852	Stl33	Serum triglyceride level QTL 33	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450854	Stl34	Serum triglyceride level QTL 34	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450856	Livw4	Liver weight QTL 4	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450862	Kidm55	Kidney mass QTL 55	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10450865	Bw175	Body weight QTL 175	qtl	DOID:1936	atherosclerosis		IAGP		D	RGD:10402111|PMID:25296178	20160122	RGD			
10755424	Ednrb<sup>sl</sup>	endothelin receptor type B, spotting lethal	gene	DOID:10003	sensorineural hearing loss		IAGP		D	RGD:6480217|PMID:21915282	20171206	RGD			
10755424	Ednrb<sup>sl</sup>	endothelin receptor type B, spotting lethal	gene	DOID:10487	Hirschsprung's disease		IAGP		D	RGD:6480215|PMID:22132166	20210218	RGD			
10755424	Ednrb<sup>sl</sup>	endothelin receptor type B, spotting lethal	gene	DOID:10487	Hirschsprung's disease		IAGP		D	RGD:6480217|PMID:21915282	20171206	RGD			
10755424	Ednrb<sup>sl</sup>	endothelin receptor type B, spotting lethal	gene	DOID:614	lymphopenia		IAGP		D	RGD:7207471|PMID:22975636	20171207	RGD			
10755424	Ednrb<sup>sl</sup>	endothelin receptor type B, spotting lethal	gene	DOID:9003546	Total Intestinal Aganglionosis		IAGP		D	RGD:6480215|PMID:22132166	20210218	RGD			
10755424	Ednrb<sup>sl</sup>	endothelin receptor type B, spotting lethal	gene	DOID:9003546	Total Intestinal Aganglionosis		IAGP		D	RGD:6480217|PMID:21915282	20210218	RGD			
10755424	Ednrb<sup>sl</sup>	endothelin receptor type B, spotting lethal	gene	DOID:9005027	Waardenburg Syndrome Type 4		IAGP		D	RGD:6480217|PMID:21915282	20210218	RGD			
10755424	Ednrb<sup>sl</sup>	endothelin receptor type B, spotting lethal	gene	DOID:9005660	Hypopigmentation		IAGP		D	RGD:10755346|PMID:26796131	20210218	RGD		compared to AR-Ednrbsl/Hkv	
10755430	Coatc6	Coat color QTL 6	qtl	DOID:10123	pigmentation disease		IAGP		D	RGD:10755346|PMID:26796131	20160128	RGD			
10755434	Coatc7	Coat color QTL 7	qtl	DOID:10123	pigmentation disease		IAGP		D	RGD:10755346|PMID:26796131	20160128	RGD			
10755436	Coatc8	Coat color QTL 8	qtl	DOID:10123	pigmentation disease		IAGP		D	RGD:10755346|PMID:26796131	20160128	RGD			
10755438	Coatc9	Coat color QTL 9	qtl	DOID:10123	pigmentation disease		IAGP		D	RGD:10755346|PMID:26796131	20160128	RGD			
10755440	Coatc10	Coat color QTL 10	qtl	DOID:10123	pigmentation disease		IAGP		D	RGD:10755346|PMID:26796131	20160128	RGD			
10755451	Coatc11	Coat color QTL 11	qtl	DOID:10123	pigmentation disease		IAGP		D	RGD:10755346|PMID:26796131	20160128	RGD			
10755453	Coatc12	Coat color QTL 12	qtl	DOID:10123	pigmentation disease		IAGP		D	RGD:10755346|PMID:26796131	20160128	RGD			
10755455	Coatc13	Coat color QTL 13	qtl	DOID:10123	pigmentation disease		IAGP		D	RGD:10755346|PMID:26796131	20160128	RGD			
10755457	Coatc14	Coat color QTL 14	qtl	DOID:10123	pigmentation disease		IAGP		D	RGD:10755346|PMID:26796131	20160128	RGD			
10755459	Coatc15	Coat color QTL 15	qtl	DOID:10123	pigmentation disease		IAGP		D	RGD:10755346|PMID:26796131	20160128	RGD			
10755461	Coatc16	Coat color QTL 16	qtl	DOID:10123	pigmentation disease		IAGP		D	RGD:10755346|PMID:26796131	20160128	RGD			
10755495	Bp387	Blood pressure QTL 387	qtl	DOID:10763	hypertension		IAGP		D	RGD:10755344|PMID:22912817	20160202	RGD			
10755497	Bp388	Blood pressure QTL 388	qtl	DOID:10763	hypertension		IAGP		D	RGD:10755344|PMID:22912817	20160202	RGD			
10755499	Bp389	Blood pressure QTL 389	qtl	DOID:10763	hypertension		IAGP		D	RGD:10755344|PMID:22912817	20160202	RGD			
10755501	Bp390	Blood pressure QTL 390	qtl	DOID:10763	hypertension		IAGP		D	RGD:10755344|PMID:22912817	20160202	RGD			
10755503	Bp391	Blood pressure QTL 391	qtl	DOID:10763	hypertension		IAGP		D	RGD:10755344|PMID:22912817	20160202	RGD			
11040521	SHR-<i>Ndufc2<sup>em2Mcwi-/+</sup></i>	SHR-<i>Ndufc2<sup>em2Mcwi-</sup></i>/<i>Ndufc2<sup>em2Mcwi+</sup></i>	strain	DOID:0051061	stroke	induces	IMP	XCO:0000022, XCO:0000032, XCO:0000030	D	RGD:11040458|PMID:26888427	20160812	RGD			
11040962	F344-<i>Bscl2<sup>m1Kyo</sup></i>		strain	DOID:14227	azoospermia		IMP		D	RGD:11085488|PMID:25934999	20190109	RGD			
11040962	F344-<i>Bscl2<sup>m1Kyo</sup></i>		strain	DOID:9007692	Insulin Resistance		IMP		D	RGD:11085488|PMID:25934999	20190109	RGD			
11052049	Igkv8-30l1	immunoglobulin kappa chain variable 8-30 like 1	gene	DOID:0080600	COVID-19		ISO	RGD:1346817	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
11081149	SD-<i>Esr2<sup>em1Soar</sup></i>		strain	DOID:9007456	Female Infertility		IMP		D	RGD:38548924|PMID:28520870	20200825	RGD			
11081177	F344<i><sup>tl</sup></i>	toothless (tl)	strain	DOID:13533	osteopetrosis		IAGP		D	RGD:628338|PMID:12379742	20180430	RGD			
11081177	F344<i><sup>tl</sup></i>	toothless (tl)	strain	DOID:9007083	Edentulous Mouth		IAGP		D	RGD:628338|PMID:12379742	20180430	RGD			
11353947	Bp392	Blood pressure QTL 392	qtl	DOID:10763	hypertension		IAGP		D	RGD:11353859|PMID:27113531	20170424	RGD			
11353949	Bp393	Blood pressure QTL 393	qtl	DOID:10763	hypertension		IAGP		D	RGD:11353859|PMID:27113531	20170424	RGD			
11353951	Bp394	Blood pressure QTL 394	qtl	DOID:10763	hypertension		IAGP		D	RGD:11353859|PMID:27113531	20170424	RGD			
11353957	Bmd92	Bone mineral density QTL 92	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:11353859|PMID:27113531	20170424	RGD			
11362919	Igkvl-ps13	immunoglobulin kappa variable like, pseudogene 13	gene	DOID:0080600	COVID-19		ISO	RGD:1349672	D	RGD:9068941	20210730	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
11368541	Pcdhb15	protocadherin beta 15	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1314071	D	RGD:8554872	20230126	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
11382285	Ceacam15	CEA cell adhesion molecule 15	gene	DOID:1324	lung cancer		ISO	RGD:1605603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
11382285	Ceacam15	CEA cell adhesion molecule 15	gene	DOID:4362	cervical cancer		ISO	RGD:1605603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
11382285	Ceacam15	CEA cell adhesion molecule 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
11382285	Ceacam15	CEA cell adhesion molecule 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605603	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
11382285	Ceacam15	CEA cell adhesion molecule 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
11382285	Ceacam15	CEA cell adhesion molecule 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
11384366	Vps37c	VPS37C subunit of ESCRT-I	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
11384366	Vps37c	VPS37C subunit of ESCRT-I	gene	DOID:4362	cervical cancer		ISO	RGD:1605989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
11384366	Vps37c	VPS37C subunit of ESCRT-I	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
11384366	Vps37c	VPS37C subunit of ESCRT-I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
11384366	Vps37c	VPS37C subunit of ESCRT-I	gene	DOID:6039	uveal melanoma		ISO	RGD:1605989	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
11384366	Vps37c	VPS37C subunit of ESCRT-I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
11384366	Vps37c	VPS37C subunit of ESCRT-I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
11384727	Smim43	small integral membrane protein 43	gene	DOID:1115	sarcoma		ISO	RGD:1604239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
11384727	Smim43	small integral membrane protein 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
11384727	Smim43	small integral membrane protein 43	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1604239	D	RGD:11554173	20210209	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
11411272	C10h5orf58	similar to human chromosome 5 open reading frame 58	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3403707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
11414885	Hoxa1	homeobox A1	gene	DOID:0050682	Athabaskan brainstem dysgenesis syndrome		ISO	RGD:737614	D	RGD:11553818|PMID:18412118	20170210	RGD		DNA:mutations:cds:185delG,175-176insG,76C>T(human)	
11414885	Hoxa1	homeobox A1	gene	DOID:0050682	Athabaskan brainstem dysgenesis syndrome		ISO	RGD:737614	D	RGD:11554173	20170210	CTD		CTD Direct Evidence: marker/mechanism	PMID:24239177
11414885	Hoxa1	homeobox A1	gene	DOID:0050682	Athabaskan brainstem dysgenesis syndrome		ISO	RGD:737614	D	RGD:7240710	20170210	OMIM			
11414885	Hoxa1	homeobox A1	gene	DOID:0050682	Athabaskan brainstem dysgenesis syndrome		ISO	RGD:737614	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BOSLEY-SALIH-ALORAINY SYNDROME | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: HOXA1-related disorder	PMID:25741868|PMID:28492532
11414885	Hoxa1	homeobox A1	gene	DOID:0050682	Athabaskan brainstem dysgenesis syndrome		ISS	RGD:732851	D	RGD:13592920	20230718	MouseDO		OMIM:601536	
11414885	Hoxa1	homeobox A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
11414885	Hoxa1	homeobox A1	gene	DOID:0060041	autism spectrum disorder	no_association	ISO	RGD:737614	D	RGD:11553826|PMID:14681917	20170210	RGD		DNA:missense mutation:cds:218A>G(human)	
11414885	Hoxa1	homeobox A1	gene	DOID:10534	stomach cancer		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
11414885	Hoxa1	homeobox A1	gene	DOID:1059	intellectual disability		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
11414885	Hoxa1	homeobox A1	gene	DOID:1115	sarcoma		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
11414885	Hoxa1	homeobox A1	gene	DOID:12849	autistic disorder		ISO	RGD:737614	D	RGD:11554173	20170210	CTD		CTD Direct Evidence: marker/mechanism	PMID:11091361
11414885	Hoxa1	homeobox A1	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:737614	D	RGD:1358730|PMID:14960295	20170210	RGD		DNA:missense mutation:cds:p.H73R (human)	
11414885	Hoxa1	homeobox A1	gene	DOID:1324	lung cancer		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
11414885	Hoxa1	homeobox A1	gene	DOID:1682	congenital heart disease		ISO	RGD:737614	D	RGD:11554173	20170210	CTD		CTD Direct Evidence: marker/mechanism	PMID:21940751
11414885	Hoxa1	homeobox A1	gene	DOID:3275	thymoma		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
11414885	Hoxa1	homeobox A1	gene	DOID:4362	cervical cancer		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
11414885	Hoxa1	homeobox A1	gene	DOID:5041	esophageal cancer		ISO	RGD:737614	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
11414885	Hoxa1	homeobox A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
11414885	Hoxa1	homeobox A1	gene	DOID:630	genetic disease		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
11414885	Hoxa1	homeobox A1	gene	DOID:9003270	Microtia-Anotia		ISO	RGD:13932952	D	RGD:9068941	20210604	OMIA		Microtia	PMID:26035869
11414885	Hoxa1	homeobox A1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:737614	D	RGD:11554173	20170210	CTD		CTD Direct Evidence: marker/mechanism	PMID:10529420
11414885	Hoxa1	homeobox A1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:737614	D	RGD:11554173	20170210	CTD		CTD Direct Evidence: marker/mechanism	PMID:10529420
11414885	Hoxa1	homeobox A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
11422907	Hs3st4	heparan sulfate-glucosamine 3-sulfotransferase 4	gene	DOID:3275	thymoma		ISO	RGD:1352921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
11422907	Hs3st4	heparan sulfate-glucosamine 3-sulfotransferase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
11422907	Hs3st4	heparan sulfate-glucosamine 3-sulfotransferase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
11422907	Hs3st4	heparan sulfate-glucosamine 3-sulfotransferase 4	gene	DOID:670	amphetamine abuse		ISO	RGD:1352921	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
11426996	Mymx	myomixer, myoblast fusion factor	gene	DOID:0061116	Carey-Fineman-Ziter syndrome 2		ISO	RGD:12904116	D	RGD:7240710	20220706	OMIM			
11426996	Mymx	myomixer, myoblast fusion factor	gene	DOID:0061116	Carey-Fineman-Ziter syndrome 2		ISO	RGD:12904116	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAREY-FINEMAN-ZITER SYNDROME 2 | ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2	PMID:25741868
11426996	Mymx	myomixer, myoblast fusion factor	gene	DOID:0061116	Carey-Fineman-Ziter syndrome 2		ISS	RGD:1620251	D	RGD:13592920	20251009	MouseDO		OMIM:619941	
11436011	Zfp470	zinc finger protein 470	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
11436011	Zfp470	zinc finger protein 470	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
11436072	Flywch2	FLYWCH family member 2	gene	DOID:3275	thymoma		ISO	RGD:1602659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
11436072	Flywch2	FLYWCH family member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
11436072	Flywch2	FLYWCH family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
11436072	Flywch2	FLYWCH family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1351399	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1	PMID:25741868|PMID:28492532
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0080470	developmental and epileptic encephalopathy 36		ISO	RGD:1351399	D	RGD:7240710	20230802	OMIM			
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0080470	developmental and epileptic encephalopathy 36		ISO	RGD:1351399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALG13-related condition | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36	PMID:16199547|PMID:17576681|PMID:24476948|PMID:25640679|PMID:25732998|PMID:25741868|PMID:26467025|PMID:27781031|PMID:28397838|PMID:28492532|PMID:32631363|PMID:33057194|PMID:33734437|PMID:35240324|PMID:35899201|PMID:35982159|PMID:36368308|PMID:9536098
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0081337	congenital myopathy		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1351399	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: developmental and epileptic encephalopathy	PMID:25741868|PMID:28492532
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1351399	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1351399	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:10907	microcephaly		ISO	RGD:1351399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:33734437
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1115	sarcoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1826	epilepsy		ISO	RGD:1351399	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1826	epilepsy		ISO	RGD:1351399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:33734437
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1827	generalized epilepsy		ISO	RGD:1351399	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1909	melanoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:3275	thymoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1351399	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1351399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: congenital disorders of glycosylation	PMID:25741868|PMID:33734437
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:630	genetic disease		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:35240324
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9002079	Paresis		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9003816	Macrocephaly		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351399	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: poor muscle tone	PMID:33734437
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:1351399	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME	PMID:25741868
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:33734437
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
11453602	Alg13	ALG13, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
11468112	Hoxa2	homeobox A2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
11468112	Hoxa2	homeobox A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
11468112	Hoxa2	homeobox A2	gene	DOID:630	genetic disease		ISO	RGD:1353431	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
11468112	Hoxa2	homeobox A2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1353431	D	RGD:11554173	20170210	CTD		CTD Direct Evidence: marker/mechanism	PMID:17786296
11468112	Hoxa2	homeobox A2	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1353431	D	RGD:11553827|PMID:18394579	20170210	RGD		DNA:missense mutation:cds:c.558C>A(p.Q186K)(human)	
11468112	Hoxa2	homeobox A2	gene	DOID:9003920	Microtia, Hearing Impairment, and Cleft Palate		ISO	RGD:1353431	D	RGD:11554173	20170210	CTD		CTD Direct Evidence: marker/mechanism	PMID:24239177
11468112	Hoxa2	homeobox A2	gene	DOID:9003920	Microtia, Hearing Impairment, and Cleft Palate		ISO	RGD:1353431	D	RGD:7240710	20170210	OMIM			
11468112	Hoxa2	homeobox A2	gene	DOID:9003920	Microtia, Hearing Impairment, and Cleft Palate		ISO	RGD:1353431	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral microtia-deafness-cleft palate syndrome | ClinVar Annotator: match by term: HOXA2-related disorder | ClinVar Annotator: match by term: MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT	PMID:25741868
11468112	Hoxa2	homeobox A2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1353431	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
11469551	Fam180b	family with sequence similarity 180 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2298817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
11470817	Krtap9-1-ps1	keratin associated protein 9-1, pseudogene 1	gene	DOID:1612	breast cancer		ISO	RGD:1343161	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Breast cancer	PMID:25741868
11472061	Hhla2	HHLA2 member of B7 family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
11472061	Hhla2	HHLA2 member of B7 family	gene	DOID:10534	stomach cancer		ISO	RGD:1350112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
11472061	Hhla2	HHLA2 member of B7 family	gene	DOID:1324	lung cancer		ISO	RGD:1350112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
11472061	Hhla2	HHLA2 member of B7 family	gene	DOID:2394	ovarian cancer		ISO	RGD:1350112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
11472061	Hhla2	HHLA2 member of B7 family	gene	DOID:5041	esophageal cancer		ISO	RGD:1350112	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
11472061	Hhla2	HHLA2 member of B7 family	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
11472061	Hhla2	HHLA2 member of B7 family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
11479453	Mtcl3	MTCL family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
11496573	Gpr32	G protein-coupled receptor 32	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343074	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
11498829	Eps8l3	EPS8 signaling adaptor L3	gene	DOID:0110702	hypotrichosis 5		ISO	RGD:1318007	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
11498829	Eps8l3	EPS8 signaling adaptor L3	gene	DOID:0110702	hypotrichosis 5		ISO	RGD:1318007	D	RGD:7240710	20200408	OMIM			
11498829	Eps8l3	EPS8 signaling adaptor L3	gene	DOID:0110702	hypotrichosis 5		ISO	RGD:1318007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPS8L3-related condition | ClinVar Annotator: match by term: Hypotrichosis 5	PMID:23099647|PMID:25741868|PMID:28492532
11498829	Eps8l3	EPS8 signaling adaptor L3	gene	DOID:10534	stomach cancer		ISO	RGD:1318007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
11498829	Eps8l3	EPS8 signaling adaptor L3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
11498829	Eps8l3	EPS8 signaling adaptor L3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318007	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
11498829	Eps8l3	EPS8 signaling adaptor L3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318007	D	RGD:11554173	20170210	CTD		CTD Direct Evidence: marker/mechanism	PMID:19223546
11508551	Anp32a	acidic nuclear phosphoprotein 32 family member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
11508551	Anp32a	acidic nuclear phosphoprotein 32 family member A	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1606331	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
11508551	Anp32a	acidic nuclear phosphoprotein 32 family member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1606331	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
11508551	Anp32a	acidic nuclear phosphoprotein 32 family member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
11508551	Anp32a	acidic nuclear phosphoprotein 32 family member A	gene	DOID:9000998	Brain Injuries		IEP		D	RGD:10401136|PMID:24385964	20170210	RGD			
11508551	Anp32a	acidic nuclear phosphoprotein 32 family member A	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:1606331	D	RGD:10401133|PMID:19054144	20170210	RGD			
11508551	Anp32a	acidic nuclear phosphoprotein 32 family member A	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1606331	D	RGD:11554173	20220607	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
11508551	Anp32a	acidic nuclear phosphoprotein 32 family member A	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1606331	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
11508551	Anp32a	acidic nuclear phosphoprotein 32 family member A	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1606331	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
11508551	Anp32a	acidic nuclear phosphoprotein 32 family member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
11530004	Niddm71	Non-insulin dependent diabetes mellitus QTL 71	qtl	DOID:9352	type 2 diabetes mellitus		IAGP		D	RGD:11528530|PMID:27463508	20170424	RGD			
11530006	Niddm72	Non-insulin dependent diabetes mellitus QTL 72	qtl	DOID:9352	type 2 diabetes mellitus		IAGP		D	RGD:11528530|PMID:27463508	20170424	RGD			
11530008	CDS.CDR-(D4Rat9-D4Rat153)/Ygl		strain	DOID:9352	type 2 diabetes mellitus	onset	IAGP		D	RGD:11528530|PMID:27463508	20160818	RGD			
11530011	CDS.SBN-(D13Rat85-D13Mit4)/Ygl		strain	DOID:9352	type 2 diabetes mellitus	MODEL: disease progression	IAGP		D	RGD:11528530|PMID:27463508	20160818	RGD			
11531091	SD-<i>F8<sup>em1Sage-/-</sup></i>/Novo		strain	DOID:12134	factor VIII deficiency	MODEL: spontaneous	IMP		D	RGD:11530071|PMID:24931420	20160825	RGD			
11531091	SD-<i>F8<sup>em1Sage-/-</sup></i>/Novo		strain	DOID:12134	factor VIII deficiency	treatment	IMP		D	RGD:150520060|PMID:31899798	20211026	RGD			
11531091	SD-<i>F8<sup>em1Sage-/-</sup></i>/Novo		strain	DOID:801	hemarthrosis	treatment	IMP		D	RGD:150520060|PMID:31899798	20211026	RGD			
11531091	SD-<i>F8<sup>em1Sage-/-</sup></i>/Novo		strain	DOID:9004755	Hemophilic Arthropathy	treatment	IMP		D	RGD:150520059|PMID:27060449	20211026	RGD			
11531096	F8<i><sup>em1Sage</sup></i>	coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage	gene	DOID:12134	factor VIII deficiency		IMP		D	RGD:11530071|PMID:24931420	20190711	RGD			
11531096	F8<i><sup>em1Sage</sup></i>	coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage	gene	DOID:12134	factor VIII deficiency	treatment	IMP		D	RGD:150520060|PMID:31899798	20211028	RGD			
11531096	F8<i><sup>em1Sage</sup></i>	coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage	gene	DOID:801	hemarthrosis	treatment	IMP		D	RGD:150520060|PMID:31899798	20211028	RGD			
11531096	F8<i><sup>em1Sage</sup></i>	coagulation factor VIII, procoagulant component; zinc finger nuclease induced mutant1, Sage	gene	DOID:9004755	Hemophilic Arthropathy	treatment	IMP		D	RGD:150520059|PMID:27060449	20211028	RGD			
11532742	Atp7b<sup>hts</sup>	ATPase copper transporting beta; hepatitis	gene	DOID:2697	renal adenoma		IAGP		D	RGD:1302456|PMID:11509115	20201214	RGD			
11532742	Atp7b<sup>hts</sup>	ATPase copper transporting beta; hepatitis	gene	DOID:686	liver carcinoma		IAGP		D	RGD:1302456|PMID:11509115	20201214	RGD			
11532742	Atp7b<sup>hts</sup>	ATPase copper transporting beta; hepatitis	gene	DOID:893	Wilson disease		IAGP		D	RGD:2292672|PMID:17303181	20170628	RGD			
11532742	Atp7b<sup>hts</sup>	ATPase copper transporting beta; hepatitis	gene	DOID:893	Wilson disease		IAGP		D	RGD:631728|PMID:7951327	20170628	RGD			
11532742	Atp7b<sup>hts</sup>	ATPase copper transporting beta; hepatitis	gene	DOID:9007188	Liver Neoplasms	onset	IAGP		D	RGD:1302456|PMID:11509115	20210218	RGD		compared to LEC/Tj;	
11534996	Anks6<sup>PKD</sup>	ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease	gene	DOID:0080322	polycystic kidney disease		IAGP		D	RGD:1300446|PMID:7933831	20170412	RGD			
11534996	Anks6<sup>PKD</sup>	ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease	gene	DOID:0080322	polycystic kidney disease		IMP		D	RGD:7207426|PMID:21119215	20160919	RGD			
11534996	Anks6<sup>PKD</sup>	ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease	gene	DOID:4676	uremia		IAGP		D	RGD:1300446|PMID:7933831	20210211	RGD			
11534996	Anks6<sup>PKD</sup>	ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease	gene	DOID:576	proteinuria		IAGP		D	RGD:1300446|PMID:7933831	20210211	RGD			
11535000	PKD/Mhm	PKD	strain	DOID:0080322	polycystic kidney disease	MODEL: spontaneous	IAGP		D	RGD:11534987|PMID:16207829	20160919	RGD			
11535031	SD-Tg(hCMV-Anks6<sup>PKD</sup>)Mhm		strain	DOID:0080322	polycystic kidney disease	MODEL: spontaneous	IMP		D	RGD:7207426|PMID:21119215	20160919	RGD			
11535943	Pkhd1<sup>pck</sup>	polycystic kidney and hepatic disease 1,polycystic kidney disease	gene	DOID:0110861	autosomal recessive polycystic kidney disease		IAGP		D	RGD:70439|PMID:11919560	20160923	RGD			
11535955	Crlj:CD(SD)		strain	DOID:8947	diabetic retinopathy	MODEL: control	IAGP		D	RGD:628479|PMID:11469401	20200130	RGD		compared to SDT/Jcl	
11535955	Crlj:CD(SD)		strain	DOID:9351	diabetes mellitus	MODEL: control	IAGP		D	RGD:628479|PMID:11469401	20200130	RGD		compared to SDT/Jcl	
11553872	Fmr1<sup>em2Mcwi</sup>	FMRP translational regulator 1; CRISPR/Cas9 induced mutant 2, Medical College of Wisconsin	gene	DOID:14261	fragile X syndrome		IMP		D	RGD:401976423|PMID:38107412	20260611	RGD			
11553873	LE-<i>Fmr1<sup>em2Mcwi</sup></i>		strain	DOID:14261	fragile X syndrome		IMP		D	RGD:401976423|PMID:38107412	20260610	RGD			
11553911	Trpc6<sup>em1Mcwi</sup>	transient receptor potential cation channel, subfamily C, member 6; CRISPR/Cas9 induced mutant 1, Medical College of Wisconsin	gene	DOID:9002165	Diabetic Nephropathies		IAGP		D	RGD:149735534|PMID:29923767	20260604	RGD			
11553912	SS-<i>Trpc6<sup>em1Mcwi</sup></i>		strain	DOID:9002165	Diabetic Nephropathies	induces	IAGP	XCO:0000245,XCO:0000241	D	RGD:149735534|PMID:29923767	20210726	RGD			
11553913	Shc1<sup>em4Mcwi</sup>	SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin	gene	DOID:0050851	glomerulosclerosis	ameliorates	IMP		D	RGD:12792230|PMID:27270176	20210409	RGD			
11553913	Shc1<sup>em4Mcwi</sup>	SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin	gene	DOID:9001542	Albuminuria	ameliorates	IMP		D	RGD:12792230|PMID:27270176	20210409	RGD			
11553914	SS-<i>Shc1<sup>em4Mcwi</sup></i>		strain	DOID:0050851	glomerulosclerosis	ameliorates	IMP		D	RGD:12792230|PMID:27270176	20210409	RGD		compared to SS/JrHsdMcwi	
11553914	SS-<i>Shc1<sup>em4Mcwi</sup></i>		strain	DOID:9001542	Albuminuria	ameliorates	IMP		D	RGD:12792230|PMID:27270176	20210409	RGD		compared to SS/JrHsdMcwi	
11553915	Shc1<sup>em5Mcwi</sup>	SHC adaptor protein 1; ZFN induced mutant 5, Medical College of Wisconsin	gene	DOID:9003234	Hypertensive Nephropathy		IMP		D	RGD:12792230|PMID:27270176	20200131	RGD			
11553916	SS-<i>Shc1<sup>em5Mcwi</sup></i>		strain	DOID:9003234	Hypertensive Nephropathy	induces	IMP	XCO:0000022	D	RGD:12792230|PMID:27270176	20200131	RGD			
11554327	BDIX.BDIV-<i>D10Mit3-D10Mgh16</i>/Zte		strain	DOID:3192	neurilemmoma	resistant	IAGP		D	RGD:11554205|PMID:26530423	20161026	RGD			
11554329	BDIX.BDIV-<i>D10Got1-D10Rat45</i>/Zte		strain	DOID:3192	neurilemmoma	resistant	IAGP		D	RGD:11554205|PMID:26530423	20161026	RGD			
11564348	Aspa<sup>em34Kyo</sup>	aspartoacylase;TALEN induced mutant 34,Kyo	gene	DOID:4990	essential tremor		IGI	RGD:150429632	D	RGD:150429620|PMID:32507787	20220225	RGD			
11564348	Aspa<sup>em34Kyo</sup>	aspartoacylase;TALEN induced mutant 34,Kyo	gene	DOID:9000495	Tremor		IMP		D	RGD:13464274|PMID:27026062	20180103	RGD		associated with Hcn1A354V allele	
11564350	SCR/Sscr	Shumiya Cataract Rat	strain	DOID:83	cataract		IAGP		D	RGD:1626611|PMID:16440058	20210521	RGD			
11565090	Ccdc85c<sup>em1Kyo</sup>	coiled-coil domain containing 85C; TALEN induced mutant1,Kyo	gene	DOID:10908	hydrocephalus		IMP		D	RGD:150520163|PMID:31341137	20211104	RGD			
11565091	F344-<i>Ccdc85c<sup>em1Kyo</sup></i>		strain	DOID:10908	hydrocephalus		IMP		D	RGD:150520163|PMID:31341137	20211028	RGD			
11567272	SD-<i>Mecp2<sup>em1Sage</sup></i>		strain	DOID:1206	Rett syndrome		IMP		D	RGD:11568037|PMID:27313794	20210318	RGD			
11568035	Mecp2<sup>em1Sage</sup>	methyl CpG binding protein 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs	gene	DOID:1206	Rett syndrome		IMP		D	RGD:11568037|PMID:27313794	20210325	RGD			
11568040	SD-<i>Fmr1<sup>em1Sage</sup></i>		strain	DOID:0060041	autism spectrum disorder	MODEL	IMP		D	RGD:9831152|PMID:24773431	20170921	RGD			
11568040	SD-<i>Fmr1<sup>em1Sage</sup></i>		strain	DOID:14261	fragile X syndrome	MODEL	IMP		D	RGD:38548926|PMID:27465362	20200922	RGD		compared to SD control;DNA:deletion:intron 7, exon 8:	
11568040	SD-<i>Fmr1<sup>em1Sage</sup></i>		strain	DOID:14261	fragile X syndrome	MODEL	IMP		D	RGD:38548928|PMID:30877790	20200922	RGD		compared to SD control;DNA:deletion:intron 7, exon 8:	
11568041	Fmr1<sup>em1Sage</sup>	FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs	gene	DOID:0060041	autism spectrum disorder		IMP		D	RGD:9831152|PMID:24773431	20170921	RGD			
11568041	Fmr1<sup>em1Sage</sup>	FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs	gene	DOID:14261	fragile X syndrome		IMP		D	RGD:38548926|PMID:27465362	20200922	RGD		DNA:deletion:intron 7, exon 8:	
11568041	Fmr1<sup>em1Sage</sup>	FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs	gene	DOID:14261	fragile X syndrome		IMP		D	RGD:38548928|PMID:30877790	20201210	RGD		compared to SD control;DNA:deletion:intron 7, exon 8:	
11568058	SD-<i>Nrxn1<sup>em1Sage</sup></i>		strain	DOID:0060041	autism spectrum disorder		IMP		D	RGD:12914797|PMID:25420124	20210521	RGD			
11568059	Nrxn1<sup>em1</sup>	neurexin 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs	gene	DOID:0060041	autism spectrum disorder		IMP		D	RGD:12914797|PMID:25420124	20210527	RGD			
11568646	SD-<i>Cntnap2<sup>em1Sage</sup></i>		strain	DOID:0060041	autism spectrum disorder		IMP		D	RGD:126790476|PMID:30126973	20210422	RGD			
11568646	SD-<i>Cntnap2<sup>em1Sage</sup></i>		strain	DOID:1826	epilepsy		IMP		D	RGD:12880397|PMID:28364455	20170505	RGD			
11568647	Cntnap2<sup>em1Sage</sup>	contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs	gene	DOID:0060041	autism spectrum disorder		IMP		D	RGD:126790476|PMID:30126973	20210429	RGD			
11568647	Cntnap2<sup>em1Sage</sup>	contactin associated protein-like 2; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs	gene	DOID:1826	epilepsy		IMP		D	RGD:12880397|PMID:28364455	20170505	RGD			
11568700	SD-<i>Nlgn3<sup>em1Sage</sup></i>		strain	DOID:0060041	autism spectrum disorder		IMP		D	RGD:126790492|PMID:28958035	20210423	RGD			
11568700	SD-<i>Nlgn3<sup>em1Sage</sup></i>		strain	DOID:0060041	autism spectrum disorder	MODEL	IMP		D	RGD:9831152|PMID:24773431	20170921	RGD			
11568701	Nlgn3<sup>em1Sage</sup>	neuroligin 3; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs	gene	DOID:0060041	autism spectrum disorder		IMP		D	RGD:126790492|PMID:28958035	20210429	RGD			
11568701	Nlgn3<sup>em1Sage</sup>	neuroligin 3; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs	gene	DOID:0060041	autism spectrum disorder		IMP		D	RGD:9831152|PMID:24773431	20170921	RGD			
11570416	Krt71<sup>Rex</sup>	keratin 71;  autosomal  dominant Rex	gene	DOID:987	alopecia		IAGP		D	RGD:11570415|PMID:20179389	20211028	RGD		DNA:deletion:cds:intron 1, p.Val149_Gln154 del	
11667077	SD-<i>Esr2<sup>em2Soar</sup></i>		strain	DOID:9007456	Female Infertility		IMP		D	RGD:38548924|PMID:28520870	20200825	RGD			
11667081	BDIV-<i>Myo5a</i>/StcRrrc		strain	DOID:0050890	synucleinopathy		IAGP		D	RGD:42721980|PMID:29217155	20210302	RGD		compared to control BD-IV	
11667081	BDIV-<i>Myo5a</i>/StcRrrc		strain	DOID:0050890	synucleinopathy		IAGP		D	RGD:42722007|PMID:22639889	20210301	RGD		compared to control BD-IV	
11667081	BDIV-<i>Myo5a</i>/StcRrrc		strain	DOID:0050890	synucleinopathy	MODEL: spontaneous	IAGP		D	RGD:41412185|PMID:27771352	20210302	RGD		compared to control BD-IV	
11667088	SD-<i>Esr1<sup>em1Soar</sup></i>		strain	DOID:5223	infertility		IMP		D	RGD:8552987|PMID:24506075	20170623	RGD			
124713544	W-<i>Cyp27b1<sup>em1Thka</sup></i>		strain	DOID:0080886	vitamin D-dependent rickets type 1A	treatment	IMP	XCO:0000545	D	RGD:32716373|PMID:32231239	20210323	RGD			
124713545	Cyp27b1<sup>em1Thka</sup>	cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka	gene	DOID:0080886	vitamin D-dependent rickets type 1A	treatment	IMP	XCO:0000545	D	RGD:32716373|PMID:32231239	20210325	RGD			
124713546	W-<i>Vdr<sup>em1Thka</sup></i>		strain	DOID:0080884	vitamin D-dependent rickets type 2A	treatment	IMP	XCO:0000545	D	RGD:32716373|PMID:32231239	20210323	RGD			
124713547	Vdr<sup>em1Thka</sup>	vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka	gene	DOID:0080884	vitamin D-dependent rickets type 2A	treatment	IMP	XCO:0000545	D	RGD:32716373|PMID:32231239	20210325	RGD			
124713548	W-<i>Vdr<sup>em2Thka</sup></i>		strain	DOID:0080884	vitamin D-dependent rickets type 2A	treatment	IMP	XCO:0000545	D	RGD:32716373|PMID:32231239	20210323	RGD		compared to untreated Vdr mutant	
124713550	Vdr<sup>em2Thka</sup>	vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka	gene	DOID:0080884	vitamin D-dependent rickets type 2A	treatment	IMP	XCO:0000545	D	RGD:32716373|PMID:32231239	20210325	RGD		compared to untreated vdr KO	
124715480	Fmr1<sup>em1Mzhe</sup>	FMRP translational regulator 1; CRISPR/Cas9 induced mutant1, Mzhe	gene	DOID:14261	fragile X syndrome		IMP		D	RGD:38501107|PMID:28894415	20210329	RGD			
124715482	SS-<i>Shc1<sup>em6Mcwi</sup></i>		strain	DOID:9005233	Experimental Mammary Neoplasms	ameliorates	IMP	XCO:0000090	D	RGD:640469348|PMID:31202267	20260310	RGD			
124715483	Shc1<sup>em6Mcwi</sup>	SHC adaptor protein 1; CRISPR/Cas9 induced mutant 6, Mcwi	gene	DOID:9005233	Experimental Mammary Neoplasms	ameliorates	IMP	XCO:0000090	D	RGD:640469348|PMID:31202267	20260312	RGD			
125097486	SD-<i>Nr3c1<sup>em1Jhrmn</sup></i>		strain	DOID:1596	depressive disorder	MODEL:induced	IMP	XCO:0001697	D	RGD:407571699|PMID:31329100	20241104	RGD			
125097487	Nr3c1<sup>em1Jhrmn</sup>	nuclear receptor subfamily 3, group C, member 1; CRISPR/Cas9 induced mutant1, Jhrmn	gene	DOID:1596	depressive disorder		IMP		D	RGD:407571699|PMID:31329100	20250904	RGD			
126777684	W-<i>Mkx<sup>em1Asah</sup></i>		strain	DOID:9003295	Heterotopic Ossification		IMP		D	RGD:40924660|PMID:27370800	20210409	RGD		compared to Wistar	
126777685	Mkx<sup>em1Asah</sup>	mohawk homeobox; CRISPR/Cas9 system induced mutant 1, Asah	gene	DOID:9003295	Heterotopic Ossification		IMP		D	RGD:40924660|PMID:27370800	20210415	RGD		compared to Wistar	
126777687	WKY-<i>Dnd1<sup>ter</sup></i>/Ztm		strain	DOID:3305	teratocarcinoma		IAGP		D	RGD:40924659|PMID:22655094	20210412	RGD		compared to WKY	
126779578	LOU/MWsl		strain	DOID:3720	extramedullary plasmacytoma	MODEL: induced	IAGP		D	RGD:39938850|PMID:6744286	20201014	RGD			
126779578	LOU/MWsl		strain	DOID:3720	extramedullary plasmacytoma	MODEL: induced	IAGP	XCO:0000779	D	RGD:125093741|PMID:6585590	20210330	RGD		rat IgM immunocytoma cells from LOU/C	
126779578	LOU/MWsl		strain	DOID:3720	extramedullary plasmacytoma	treatment	IAGP		D	RGD:39938850|PMID:6744286	20201014	RGD			
126779578	LOU/MWsl		strain	DOID:9001542	Albuminuria	induces	IAGP		D	RGD:45073132|PMID:3456068	20210312	RGD			
126779578	LOU/MWsl		strain	DOID:9006810	Drug-Related Side Effects and Adverse Reactions	induces	IAGP		D	RGD:45073132|PMID:3456068	20210312	RGD			
126779591	SD-<i>Csf1r<sup>tm(EGFP)-/-</sup></i>/Tset		strain	DOID:0080006	bone development disease		IMP		D	RGD:41404725|PMID:30249809	20210413	RGD			
126779591	SD-<i>Csf1r<sup>tm(EGFP)-/-</sup></i>/Tset		strain	DOID:5223	infertility		IMP		D	RGD:41404725|PMID:30249809	20210413	RGD			
126779591	SD-<i>Csf1r<sup>tm(EGFP)-/-</sup></i>/Tset		strain	DOID:614	lymphopenia		IMP		D	RGD:41404725|PMID:30249809	20210413	RGD			
126781692	Csf1r<sup>tm(EGFP)Tset</sup>	colony stimulating factor 1 receptor; target mutant, Tset	gene	DOID:0080006	bone development disease		IMP		D	RGD:41404725|PMID:30249809	20210416	RGD			
126781692	Csf1r<sup>tm(EGFP)Tset</sup>	colony stimulating factor 1 receptor; target mutant, Tset	gene	DOID:5223	infertility		IMP		D	RGD:41404725|PMID:30249809	20210416	RGD			
126781692	Csf1r<sup>tm(EGFP)Tset</sup>	colony stimulating factor 1 receptor; target mutant, Tset	gene	DOID:614	lymphopenia		IMP		D	RGD:41404725|PMID:30249809	20210416	RGD			
126790464	SD-<i>Ube3a<sup>em1Jue</sup></i>		strain	DOID:1932	Angelman syndrome		IMP		D	RGD:126790466|PMID:32066685	20210422	RGD			
126790465	Ube3a<sup>em1Jue</sup>	ubiquitin protein ligase E3A; CRISPR/Cas9 induced mutant1, Jue	gene	DOID:1932	Angelman syndrome		IMP		D	RGD:126790466|PMID:32066685	20210429	RGD			
126790496	SD-<i>Shank2<sup>em13Sage</sup></i>		strain	DOID:0060041	autism spectrum disorder		IMP		D	RGD:126790534|PMID:29970986	20210426	RGD			
126790499	Shank2<sup>em13Sage</sup>	SH3 and multiple ankyrin repeat domains 2; ZFN induced mutant13, Sage	gene	DOID:0060041	autism spectrum disorder		IMP		D	RGD:126790534|PMID:29970986	20210429	RGD			
126848737	WI-<i> Msh6<sup>m1Hubr</sup></i>		strain	DOID:0070272	hereditary nonpolyposis colorectal cancer type 5		IMP		D	RGD:2292505|PMID:18417481	20210428	RGD			
126848737	WI-<i> Msh6<sup>m1Hubr</sup></i>		strain	DOID:9000027	Microsatellite Instability		IMP		D	RGD:2292505|PMID:18417481	20210428	RGD			
126848738	Msh6<sup>m1Hubr</sup>	mutS homolog 6; ENU induced mutant 1, Hubr	gene	DOID:0070272	hereditary nonpolyposis colorectal cancer type 5		IMP		D	RGD:2292505|PMID:18417481	20210429	RGD			
126848738	Msh6<sup>m1Hubr</sup>	mutS homolog 6; ENU induced mutant 1, Hubr	gene	DOID:9000027	Microsatellite Instability		IMP		D	RGD:2292505|PMID:18417481	20210429	RGD			
126848793	SS-<i>Gper1<sup>em1Bj-/-</sup></i>		strain	DOID:9007204	Dysbiosis	ameliorates	IMP		D	RGD:39939000|PMID:30354811	20220204	RGD			
126848804	F344-<i>Trpc4<sup>Tn(sb)1Bni</sup></i>		strain	DOID:9001820	Pulmonary Arterial Hypertension	ameliorates	IMP	XCO:0000010|XCO:0000922	D	RGD:150429956|PMID:24113457	20220125	RGD			
126848808	Trpc4<sup>Tn(sb)Tngen</sup>	transient receptor potential cation channel, subfamily C, member 4; sleeping beauty induced mutant, Tngen	gene	DOID:9001820	Pulmonary Arterial Hypertension	ameliorates	IMP	XCO:0000010|XCO:0000922	D	RGD:150429956|PMID:24113457	20220210	RGD			
126908010	SD-<i>Kcnk3<sup>em1Ang-/-</sup></i>		strain	DOID:6432	pulmonary hypertension	severity	IMP	XCO:0000642	D	RGD:151347452|PMID:31347976	20220127	RGD			
126908013	SD-<i>Kcnk3<sup>em1Ang-/+</sup></i>		strain	DOID:6432	pulmonary hypertension	severity	IMP	XCO:0000642	D	RGD:151347452|PMID:31347976	20220127	RGD			
126908015	Kcnk3<sup>em1Ang</sup>	potassium two pore domain channel subfamily K member 3; CRISPR/Cas9 induced mutant1, Ang	gene	DOID:6432	pulmonary hypertension	severity	IMP	XCO:0000642	D	RGD:151347452|PMID:31347976	20220203	RGD			
126925134	SD-<i>Il36rn<sup>tm1(Myh6-cre)Mhzh</sup></i>		strain	DOID:9007838	Myocardial Reperfusion Injury		IMP		D	RGD:126925167|PMID:32048631	20210513	RGD			
126925135	SD-<i>Il1rl2<sup>tm1(Myh6-cre)Mhzh</sup></i>		strain	DOID:9007838	Myocardial Reperfusion Injury		IMP		D	RGD:126925167|PMID:32048631	20210513	RGD		compared to Wild Type in cardiopulmonary bypass model	
126925138	SD-<i>Ubd<sup>em1</sup></i>		strain	DOID:5844	myocardial infarction		IMP		D	RGD:126925221|PMID:29438664	20210518	RGD		associated with induced myocardial infarction	
126925159	Il1rl2<sup>tm1(Myh6-cre)Mhzh</sup>	interleukin 1 receptor-like 2; tm1 (Myh6-cre), Mhzh	gene	DOID:9007838	Myocardial Reperfusion Injury		IMP		D	RGD:126925167|PMID:32048631	20210520	RGD		compared to Wild Type in cardiopulmonary bypass model	
126925161	Il36rn<sup>tm1(Myh6-cre)Mhzh</sup>	interleukin 36 receptor antagonist; tm1, Mhzh	gene	DOID:9007838	Myocardial Reperfusion Injury		IMP		D	RGD:126925167|PMID:32048631	20210520	RGD			
126925166	Ubd<sup>em1</sup>	ubiquitin D; CRISPR/Cas9 induced mutant1	gene	DOID:5844	myocardial infarction		IMP		D	RGD:126925221|PMID:29438664	20210520	RGD		associated with induced myocardial infarction	
126925756	SD-<i>Cryba1<sup>Nuc1Dbsa</sup></i>		strain	DOID:10629	microphthalmia		IMP		D	RGD:126925760|PMID:15721615	20210519	RGD			
126925756	SD-<i>Cryba1<sup>Nuc1Dbsa</sup></i>		strain	DOID:83	cataract		IMP		D	RGD:126925760|PMID:15721615	20210519	RGD			
126925756	SD-<i>Cryba1<sup>Nuc1Dbsa</sup></i>		strain	DOID:83	cataract		IMP		D	RGD:2303652|PMID:17931883	20210519	RGD			
126925756	SD-<i>Cryba1<sup>Nuc1Dbsa</sup></i>		strain	DOID:9005232	Reticular Dystrophy of Retinal Pigment Epithelium		IMP		D	RGD:126925759|PMID:21266465	20210519	RGD			
126925758	Cryba1<sup>Nuc1Dbsa</sup>	crystallin, beta A1;Nuc1 mutant, Dbsa	gene	DOID:10629	microphthalmia		IMP		D	RGD:126925760|PMID:15721615	20210520	RGD			
126925758	Cryba1<sup>Nuc1Dbsa</sup>	crystallin, beta A1;Nuc1 mutant, Dbsa	gene	DOID:83	cataract		IMP		D	RGD:126925760|PMID:15721615	20210520	RGD			
126925758	Cryba1<sup>Nuc1Dbsa</sup>	crystallin, beta A1;Nuc1 mutant, Dbsa	gene	DOID:83	cataract		IMP		D	RGD:2303652|PMID:17931883	20210520	RGD			
126925758	Cryba1<sup>Nuc1Dbsa</sup>	crystallin, beta A1;Nuc1 mutant, Dbsa	gene	DOID:9005232	Reticular Dystrophy of Retinal Pigment Epithelium		IMP		D	RGD:126925759|PMID:21266465	20210520	RGD			
126925949	SD-<i>Myh7b<sup>em1Blar+/-</sup></i>		strain	DOID:11984	hypertrophic cardiomyopathy		IMP		D	RGD:126925946|PMID:32207065	20210816	RGD			
126925952	SD-<i>Myh7b<sup>em1Blar-/-</sup></i>		strain	DOID:11984	hypertrophic cardiomyopathy		IMP		D	RGD:126925946|PMID:32207065	20210816	RGD			
126925953	Myh7b<sup>em1Blar</sup>	myosin heavy chain 7B; CRISPR/Cas9 induced mutant 1, Blar	gene	DOID:11984	hypertrophic cardiomyopathy		IMP		D	RGD:126925946|PMID:32207065	20210819	RGD			
126925978	SD-<i>Ercc6<sup>em1Cgen</sup></i>		strain	DOID:0080908	Cockayne syndrome B		IMP		D	RGD:126925983|PMID:31644904	20210525	RGD			
126925980	Ercc6<sup>em1Cgen</sup>	ERCC excision repair 6, chromatin remodeling factor;  CRISPR/Cas9  induced mutant 1, Cgen	gene	DOID:0080908	Cockayne syndrome B		IMP		D	RGD:126925983|PMID:31644904	20210527	RGD			
126925992	SD-<i>Cftr<sup>em1Ang</sup></i>		strain	DOID:1485	cystic fibrosis		IMP		D	RGD:126928119|PMID:31942562	20210526	RGD			
126925992	SD-<i>Cftr<sup>em1Ang</sup></i>		strain	DOID:693	dental enamel hypoplasia		IMP		D	RGD:126928119|PMID:31942562	20210526	RGD			
126925993	Cftr<sup>em1Ang</sup>	cystic fibrosis transmembrane conductance regulator;  CRISPR/Cas9 induced mutant 1, Ang	gene	DOID:1485	cystic fibrosis		IMP		D	RGD:126928119|PMID:31942562	20210527	RGD			
126925993	Cftr<sup>em1Ang</sup>	cystic fibrosis transmembrane conductance regulator;  CRISPR/Cas9 induced mutant 1, Ang	gene	DOID:693	dental enamel hypoplasia		IMP		D	RGD:126928119|PMID:31942562	20210527	RGD			
126925994	SD-<i>Cftr<sup>em2Ang</sup></i>		strain	DOID:1485	cystic fibrosis		IMP		D	RGD:126928119|PMID:31942562	20210526	RGD			
126925994	SD-<i>Cftr<sup>em2Ang</sup></i>		strain	DOID:693	dental enamel hypoplasia		IMP		D	RGD:126928119|PMID:31942562	20210526	RGD			
126925995	Cftr<sup>em2Ang</sup>	cystic fibrosis transmembrane conductance regulator;  CRISPR/Cas9 induced mutant 2, Ang	gene	DOID:1485	cystic fibrosis		IMP		D	RGD:126928119|PMID:31942562	20210527	RGD			
126925995	Cftr<sup>em2Ang</sup>	cystic fibrosis transmembrane conductance regulator;  CRISPR/Cas9 induced mutant 2, Ang	gene	DOID:693	dental enamel hypoplasia		IMP		D	RGD:126928119|PMID:31942562	20210527	RGD			
126928146	ACI.Cg.-<i>Cdkn1b<sup>em1Musc</sup></i>		strain	DOID:5223	infertility		IMP		D	RGD:126908018|PMID:30893315	20210607	RGD			
126928146	ACI.Cg.-<i>Cdkn1b<sup>em1Musc</sup></i>		strain	DOID:83	cataract		IMP		D	RGD:126908018|PMID:30893315	20210607	RGD			
126928147	Cdkn1b<sup>em1Musc</sup>	cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc	gene	DOID:5223	infertility		IMP		D	RGD:126908018|PMID:30893315	20210610	RGD			
126928147	Cdkn1b<sup>em1Musc</sup>	cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc	gene	DOID:83	cataract		IMP		D	RGD:126908018|PMID:30893315	20210610	RGD			
126928150	ACI.Cg.-<i>Cdkn1b<sup>em4Musc</sup></i>		strain	DOID:5223	infertility		IMP		D	RGD:126908018|PMID:30893315	20210607	RGD			
126928150	ACI.Cg.-<i>Cdkn1b<sup>em4Musc</sup></i>		strain	DOID:83	cataract		IMP		D	RGD:126908018|PMID:30893315	20210607	RGD			
126928151	Cdkn1b<sup>em4Musc</sup>	cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc	gene	DOID:5223	infertility		IMP		D	RGD:126908018|PMID:30893315	20210610	RGD			
126928151	Cdkn1b<sup>em4Musc</sup>	cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc	gene	DOID:83	cataract		IMP		D	RGD:126908018|PMID:30893315	20210610	RGD			
127228636	CVCL_A6JK	NU-RMESO-9	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C60453	
127228637	CVCL_A6JJ	NU-RMESO-2	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C60453	
127228638	CVCL_A6JM	NU-RMESO-20	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C60453	
127228639	CVCL_A6JL	NU-RMESO-14	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C60453	
127228640	CVCL_A6JN	NU-RMESO-26	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C60453	
127228641	CVCL_A6JQ	NU-RMESO-79	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C60453	
127228642	CVCL_A6JP	NU-RMESO-40	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C60453	
127228718	CVCL_A6IM	FRA	cell line	DOID:9004547	Thyroid Neoplasms		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C179056	
127228813	CVCL_A6UV	RMM-A1	cell line	DOID:1909	melanoma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C60451	
127228814	CVCL_A6UU	RMM-C	cell line	DOID:1909	melanoma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C60451	
127228816	CVCL_A6UW	RMM-CAF	cell line	DOID:1909	melanoma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C60451	
127229263	CVCL_A7QC	RIN-AhGh	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C121566	
127229265	CVCL_A7QE	RIN 1046-44	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C121566	
127229266	CVCL_A7QD	RIN-AhLh	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C121566	
127229267	CVCL_A7QG	RIN-5AH-T2	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C121566	
127229268	CVCL_A7QF	RIN 1046-43	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C121566	
127229869	CVCL_A7AK	TSD-B4S	cell line	DOID:5563	malignant teratoma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C60468	
127229871	CVCL_A7AM	TSD-P	cell line	DOID:5563	malignant teratoma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C60468	
127229872	CVCL_A7AL	TSD-F9R	cell line	DOID:5563	malignant teratoma		IEA		D	RGD:21410187	20210602	CELLOSAURUS		NCI:C60468	
127284883	SD-<i>Aqp4<sup>em1Hrt</sup></i>		strain	DOID:9000438	Subarachnoid Hemorrhage	exacerbates	IMP		D	RGD:127284879|PMID:33574749	20220117	RGD			
127284884	Aqp4<sup>em1Hrt</sup>	aquaporin 4; TALEN induced mutant 1, Hrt	gene	DOID:9000438	Subarachnoid Hemorrhage	exacerbates	IMP		D	RGD:127284879|PMID:33574749	20220120	RGD			
127285380	SD-<i>Mir31<sup>em1Sage</sup></i>		strain	DOID:3748	esophagus squamous cell carcinoma	ameliorates	IMP		D	RGD:127285381|PMID:32123074	20220117	RGD			
127285404	SHR-<i>Cfb<sup>em1Tja</sup></i>		strain	DOID:9006646	Metabolic Syndrome	ameliorates	IMP		D	RGD:127285403|PMID:28739975	20260407	RGD			
127285405	Cfb<sup>em1Tja</sup>	complement factor B, ZFN induced mutant 1, Tja	gene	DOID:9006646	Metabolic Syndrome	ameliorates	IMP		D	RGD:127285403|PMID:28739975	20260409	RGD			
127285810	SD-<i>Trpa1<sup>em1Gne</sup></i>		strain	DOID:9002283	Experimental Allergic Asthma	severity	IMP		D	RGD:127285811|PMID:31969645	20210702	RGD			
127285812	Trpa1<sup>em1Gne</sup>	transient receptor potential cation channel, subfamily A, member 1;CRISPR/Cas9 induced mutant 1, Gne	gene	DOID:9002283	Experimental Allergic Asthma	severity	IMP		D	RGD:127285811|PMID:31969645	20260416	RGD			
127338473	WM/Nem		strain	DOID:9007337	Teratogenesis	susceptibility	IAGP		D	RGD:149735899|PMID:3347907	20211223	RGD			
127338474	BDIX/Nem		strain	DOID:9007337	Teratogenesis	susceptibility	IAGP		D	RGD:149735899|PMID:3347907	20211223	RGD			
127345097	SD-<i>Muc1<sup>em1Cgen</sup></i>		strain	DOID:4481	allergic rhinitis	severity	IMP		D	RGD:127345100|PMID:31425778	20210709	RGD			
127345099	Muc1<sup>em1Cgen</sup>	mucin 1, cell surface associated; TALEN induced mutant 1, Cgen	gene	DOID:4481	allergic rhinitis	severity	IMP		D	RGD:127345100|PMID:31425778	20210715	RGD			
12738218	SD-<i>GEPR-9</i>		strain	DOID:9009159	Audiogenic Epilepsy	induces	IAGP		D	RGD:13450925|PMID:21458955	20210108	RGD			
12738218	SD-<i>GEPR-9</i>		strain	DOID:9009159	Audiogenic Epilepsy	induces	IAGP		D	RGD:724734|PMID:3596061	20210111	RGD			
12738372	BDIX.BDIV-<i>D6Mit1-D6Mgh2</i>/Zte		strain	DOID:5940	malignant peripheral nerve sheath tumor	sexual_dimorphism	IAGP		D	RGD:11556249|PMID:21427360	20211222	RGD			
12790721	SS.BN-(<i>D13Rat151-D13Rat197)-Serpinc1<sup>em2Mcwi</sup></i>		strain	DOID:9006223	Kidney Reperfusion Injury		IMP		D	RGD:11354006|PMID:26108065	20170310	RGD			
12790722	Serpinc1<sup>em2Mcwi</sup>	serpin family C member 1; ZFN induced mutant 2, Medical College of Wisconsin	gene	DOID:9006223	Kidney Reperfusion Injury		IMP		D	RGD:11354006|PMID:26108065	20170515	RGD			
12791992	Gja8<sup>m1Cub</sup>	gap junction protein, alpha 8; mutant 1 Cub	gene	DOID:0110231	cataract 1 multiple types		IAGP		D	RGD:2293186|PMID:18470322	20170412	RGD			
12791992	Gja8<sup>m1Cub</sup>	gap junction protein, alpha 8; mutant 1 Cub	gene	DOID:10629	microphthalmia		IAGP		D	RGD:2293186|PMID:18470322	20170412	RGD			
12791992	Gja8<sup>m1Cub</sup>	gap junction protein, alpha 8; mutant 1 Cub	gene	DOID:83	cataract		IAGP		D	RGD:2293186|PMID:18470322	20251204	RGD			
12792252	Apc<sup>m1Kyo</sup>	APC, WNT signaling pathway regulator; mutant 1, Kyo	gene	DOID:219	colon cancer		IAGP		D	RGD:12792250|PMID:19694754	20170411	RGD			
12792283	Scn1a<sup>m1Kyo</sup>	sodium voltage-gated channel alpha subunit 1; ENU induced mutant1, Kyo	gene	DOID:9007956	Febrile Seizures		IMP		D	RGD:12792282|PMID:20410126	20170411	RGD			
12792284	Scn1a<sup>m2Kyo</sup>	sodium voltage-gated channel alpha subunit 1; ENU induced mutant2, Kyo	gene	DOID:9007956	Febrile Seizures		IMP		D	RGD:12792282|PMID:20410126	20170411	RGD			
12792962	Sv2a<sup>m1Kyo</sup>	synaptic vesicle glycoprotein 2a; ENU induced mutant 1, Kyo,	gene	DOID:9007090	Experimental Seizures		IMP		D	RGD:12792961|PMID:27265781	20170410	RGD			
12792963	Lep<sup>m1Kyo</sup>	leptin; ENU induced mutant1, Kyo	gene	DOID:9007692	Insulin Resistance		IMP		D	RGD:8549777|PMID:23800849	20170410	RGD			
12792963	Lep<sup>m1Kyo</sup>	leptin; ENU induced mutant1, Kyo	gene	DOID:9970	obesity		IMP		D	RGD:8549777|PMID:23800849	20170410	RGD			
12792967	Arsb<sup>MPR</sup>	arylsulfatase B; MPR mutant	gene	DOID:12800	mucopolysaccharidosis VI		IAGP		D	RGD:631738|PMID:8575749	20170410	RGD			
12792970	Lgi1<sup>m1Kyo</sup>	leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo	gene	DOID:1826	epilepsy		IMP		D	RGD:12792971|PMID:22589250	20170410	RGD		DNA:missense mutation:cds:p.L385R (c.1154T>G)	
12792970	Lgi1<sup>m1Kyo</sup>	leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		IMP		D	RGD:14995940|PMID:30813600	20200130	RGD			
12792972	Tyr<sup>em1Kyo</sup>	tyrosinase; TALEN induced mutant1, Kyo	gene	DOID:9001386	Albinism		IMP		D	RGD:12792973|PMID:23409244	20170410	RGD			
12793071	Mrs2<sup>dmyKyo</sup>	MRS2 magnesium transporter; demyelination mutant, Kyo	gene	DOID:3213	demyelinating disease		IAGP		D	RGD:12793070|PMID:21253565	20180525	RGD		DNA:missense mutation:intron(rat)	
12798532	SS.BN-(<i>D13Hmgc40-D13Got22</i>)/Mcwi		strain	DOID:576	proteinuria	induces	IAGP	XCO:0000022	D	RGD:12798539|PMID:21257920	20170324	RGD			
12798533	SS.BN-(<i>D13Hmgc85-D13Got22</i>)/Mcwi		strain	DOID:576	proteinuria	induces	IAGP	XCO:0000022	D	RGD:12798539|PMID:21257920	20170324	RGD			
12798534	SS.BN-(<i>D13Rat77-D13Got22</i>)/Mcwi		strain	DOID:576	proteinuria	induces	IAGP	XCO:0000022	D	RGD:12798539|PMID:21257920	20170324	RGD			
12798535	SS.BN-(<i>D13Rat111-D13Rat115</i>)/Mcwi		strain	DOID:576	proteinuria	induces	IAGP	XCO:0000022	D	RGD:12798539|PMID:21257920	20170324	RGD			
12798536	SS.BN-(<i>D13Rat111-D13Hmgc86</i>)/Mcwi		strain	DOID:576	proteinuria	induces	IAGP	XCO:0000022	D	RGD:12798539|PMID:21257920	20170324	RGD			
12798537	SS.BN-(<i>D13Rat111-D13Rat20</i>)/Mcwi		strain	DOID:576	proteinuria	induces	IAGP	XCO:0000022	D	RGD:12798539|PMID:21257920	20170324	RGD			
12798560	Il2rg<sup>em1Kyo</sup>	interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo	gene	DOID:0060013	X-linked severe combined immunodeficiency		IMP		D	RGD:2316325|PMID:20111598	20201210	RGD			
12798560	Il2rg<sup>em1Kyo</sup>	interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo	gene	DOID:628	combined T cell and B cell immunodeficiency		IMP		D	RGD:2316325|PMID:20111598	20170608	RGD			
12798561	Il2rg<sup>em2Kyo</sup>	interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo	gene	DOID:0060013	X-linked severe combined immunodeficiency		IMP		D	RGD:2316325|PMID:20111598	20201210	RGD			
12798561	Il2rg<sup>em2Kyo</sup>	interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo	gene	DOID:628	combined T cell and B cell immunodeficiency		IMP		D	RGD:2316325|PMID:20111598	20170608	RGD			
12802344	Kcnq1<sup>dfk</sup>	potassium voltage-gated channel subfamily Q member 1;deafness Kyoto	gene	DOID:10763	hypertension		IAGP		D	RGD:1581602|PMID:16368876	20170411	RGD			
12802344	Kcnq1<sup>dfk</sup>	potassium voltage-gated channel subfamily Q member 1;deafness Kyoto	gene	DOID:2843	long QT syndrome		IAGP		D	RGD:1581602|PMID:16368876	20200124	RGD			
12802344	Kcnq1<sup>dfk</sup>	potassium voltage-gated channel subfamily Q member 1;deafness Kyoto	gene	DOID:9001295	Achlorhydria		IAGP		D	RGD:1581602|PMID:16368876	20170411	RGD			
12802344	Kcnq1<sup>dfk</sup>	potassium voltage-gated channel subfamily Q member 1;deafness Kyoto	gene	DOID:9008681	Deafness		IAGP		D	RGD:1581602|PMID:16368876	20170411	RGD			
12802346	Plp1<i><sup>md</sup></i>	proteolipid protein 1; Myelin-deficient	gene	DOID:1826	epilepsy		IAGP		D	RGD:1358781|PMID:2479544	20170412	RGD			
12802351	Mbp<sup>md</sup>	myelin basic protein; myelin deficient	gene	DOID:3213	demyelinating disease		IAGP		D	RGD:1358763|PMID:10212300	20170412	RGD			
12859278	Slc:ZUC-<I>Lepr<sup>fa-/-</sup></I>	Zucker fatty rats	strain	DOID:0080547	metabolic dysfunction-associated steatohepatitis	induces	IAGP	XCO:0000025, XCO:0000246,XCO:0000164	D	RGD:21076282|PMID:20606728	20200313	RGD		compared to standard diet rats	
12859278	Slc:ZUC-<I>Lepr<sup>fa-/-</sup></I>	Zucker fatty rats	strain	DOID:2018	hyperinsulinism	MODEL: spontaneous	IAGP		D	RGD:2300017|PMID:14756693	20200113	RGD		compared to SHRSP/Izm	
12859278	Slc:ZUC-<I>Lepr<sup>fa-/-</sup></I>	Zucker fatty rats	strain	DOID:9000808	Hypercholesterolemia	MODEL: spontaneous	IAGP		D	RGD:2300017|PMID:14756693	20200113	RGD		compared to SHRSP/Izm	
12859278	Slc:ZUC-<I>Lepr<sup>fa-/-</sup></I>	Zucker fatty rats	strain	DOID:9000808	Hypercholesterolemia	induces	IAGP	XCO:0000025, XCO:0000246,XCO:0000164	D	RGD:21076282|PMID:20606728	20200313	RGD		compared to standard diet rats	
12859278	Slc:ZUC-<I>Lepr<sup>fa-/-</sup></I>	Zucker fatty rats	strain	DOID:9007692	Insulin Resistance		IAGP		D	RGD:12859275|PMID:25961052	20170414	RGD		compared to wt homozygotes	
12859278	Slc:ZUC-<I>Lepr<sup>fa-/-</sup></I>	Zucker fatty rats	strain	DOID:9970	obesity	MODEL: spontaneous	IAGP		D	RGD:12859276|PMID:23671847	20170414	RGD		compared to fa/+ heterozygotes	
12859278	Slc:ZUC-<I>Lepr<sup>fa-/-</sup></I>	Zucker fatty rats	strain	DOID:9970	obesity	MODEL: spontaneous	IAGP		D	RGD:2300017|PMID:14756693	20200113	RGD		compared to SHRSP/Izm	
12859279	Ho:ZFDM-<I>Lepr<sup>fa</sup></I>	Zucker Fatty Diabetes Mellitus rats	strain	DOID:9007692	Insulin Resistance		IAGP		D	RGD:12859275|PMID:25961052	20170414	RGD		compared to fa/+ heterozygotes	
12859279	Ho:ZFDM-<I>Lepr<sup>fa</sup></I>	Zucker Fatty Diabetes Mellitus rats	strain	DOID:9970	obesity		IAGP		D	RGD:12859276|PMID:23671847	20200320	RGD		compared to fa/+ heterozygotes	
12859287	ZDF-<i>Lepr<sup>fa/fa</sup></i>/Drt	Zucker Diabetic Fatty Rat	strain	DOID:9352	type 2 diabetes mellitus	MODEL: spontaneous	IAGP		D	RGD:1354693|PMID:15319354	20200306	RGD			
12879394	F344-<i>Atm<sup>m1Kyo</sup></i>	Atm missense rats	strain	DOID:0060058	lymphoma		IMP		D	RGD:12879393|PMID:27895165	20170418	RGD			
12879394	F344-<i>Atm<sup>m1Kyo</sup></i>	Atm missense rats	strain	DOID:14566	disease of cellular proliferation		IMP		D	RGD:12879393|PMID:27895165	20170418	RGD			
12879394	F344-<i>Atm<sup>m1Kyo</sup></i>	Atm missense rats	strain	DOID:5223	infertility		IMP		D	RGD:12879393|PMID:27895165	20170418	RGD			
12879395	Atm<sup>m1Kyo</sup>	ATM serine/threonine kinase; ENU induced mutant 1, Kyo	gene	DOID:0060058	lymphoma		IMP		D	RGD:12879393|PMID:27895165	20230119	RGD			
12879395	Atm<sup>m1Kyo</sup>	ATM serine/threonine kinase; ENU induced mutant 1, Kyo	gene	DOID:14566	disease of cellular proliferation		IMP		D	RGD:12879393|PMID:27895165	20230119	RGD			
12879395	Atm<sup>m1Kyo</sup>	ATM serine/threonine kinase; ENU induced mutant 1, Kyo	gene	DOID:5223	infertility		IMP		D	RGD:12879393|PMID:27895165	20170418	RGD			
12879400	F344-<i>Atm<sup>em1Kyo</sup></i>	ZFN-Atm  rats	strain	DOID:0060058	lymphoma		IMP		D	RGD:12879399|PMID:28007901	20170418	RGD			
12879400	F344-<i>Atm<sup>em1Kyo</sup></i>	ZFN-Atm  rats	strain	DOID:1240	leukemia		IMP		D	RGD:12879399|PMID:28007901	20170418	RGD			
12879400	F344-<i>Atm<sup>em1Kyo</sup></i>	ZFN-Atm  rats	strain	DOID:12704	ataxia telangiectasia		IMP		D	RGD:12879399|PMID:28007901	20170418	RGD			
12879400	F344-<i>Atm<sup>em1Kyo</sup></i>	ZFN-Atm  rats	strain	DOID:14566	disease of cellular proliferation		IMP		D	RGD:12879399|PMID:28007901	20170418	RGD			
12879400	F344-<i>Atm<sup>em1Kyo</sup></i>	ZFN-Atm  rats	strain	DOID:5223	infertility		IMP		D	RGD:12879399|PMID:28007901	20170418	RGD			
12879401	Atm<sup>em1Kyo</sup>	ATM serine/threonine kinase; ZFN induced mutant 1, Kyo	gene	DOID:0060058	lymphoma		IMP		D	RGD:12879399|PMID:28007901	20170418	RGD			
12879401	Atm<sup>em1Kyo</sup>	ATM serine/threonine kinase; ZFN induced mutant 1, Kyo	gene	DOID:1240	leukemia		IMP		D	RGD:12879399|PMID:28007901	20230117	RGD			
12879401	Atm<sup>em1Kyo</sup>	ATM serine/threonine kinase; ZFN induced mutant 1, Kyo	gene	DOID:12704	ataxia telangiectasia		IMP		D	RGD:12879399|PMID:28007901	20170418	RGD			
12879401	Atm<sup>em1Kyo</sup>	ATM serine/threonine kinase; ZFN induced mutant 1, Kyo	gene	DOID:14566	disease of cellular proliferation		IMP		D	RGD:12879399|PMID:28007901	20230119	RGD			
12879401	Atm<sup>em1Kyo</sup>	ATM serine/threonine kinase; ZFN induced mutant 1, Kyo	gene	DOID:5223	infertility		IMP		D	RGD:12879399|PMID:28007901	20170418	RGD			
12879506	Pur33	Proteinuria QTL 33	qtl	DOID:576	proteinuria		IAGP		D	RGD:11353859|PMID:27113531	20170424	RGD			
12879830	Bw178	Body weight QTL 178	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170426	RGD			
12879831	Cm82	Cardiac mass QTL 82	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170426	RGD			
12879832	Cm83	Cardiac mass QTL 83	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170426	RGD			
12879833	Cm84	Cardiac mass QTL 84	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170426	RGD			
12879834	Am1	Aortic mass QTL 1	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170426	RGD			
12879835	Kidm60	Kidney mass QTL 60	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20081029	RGD			
12879836	Kidm61	Kidney mass QTL 61	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170426	RGD			
12879837	Am2	Aortic mass QTL 2	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170426	RGD			
12879838	Cm86	Cardiac mass QTL 86	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170426	RGD			
12879839	Cm85	Cardiac mass QTL 85	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170426	RGD			
12879840	Bw179	Body weight QTL 179	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170426	RGD			
12879841	Cm87	Cardiac mass QTL 87	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170426	RGD			
12879842	Cm88	Cardiac mass QTL 88	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170426	RGD			
12879843	Am3	Aortic mass QTL 3	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170426	RGD			
12879844	Kidm62	Kidney mass QTL 62	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170426	RGD			
12879849	Bw180	Body weight QTL 180	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879850	Cm91	Cardiac mass QTL 91	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879851	Cm92	Cardiac mass QTL 92	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879852	Cm93	Cardiac mass QTL 93	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879853	Am5	Aortic mass QTL 5	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879854	Kidm63	Kidney mass QTL 63	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879860	Tg<sup>rdw</sup>	thyroglobulin; rdw mutant	gene	DOID:0060870	isolated growth hormone deficiency		IAGP		D	RGD:12880373|PMID:3366187	20170503	RGD			
12879860	Tg<sup>rdw</sup>	thyroglobulin; rdw mutant	gene	DOID:0060870	isolated growth hormone deficiency		IAGP		D	RGD:730133|PMID:11089535	20170503	RGD			
12879860	Tg<sup>rdw</sup>	thyroglobulin; rdw mutant	gene	DOID:1459	hypothyroidism		IAGP		D	RGD:730133|PMID:11089535	20210930	RGD		compared to wild type and heterozygotes	
12879860	Tg<sup>rdw</sup>	thyroglobulin; rdw mutant	gene	DOID:1459	hypothyroidism	treatment	IAGP		D	RGD:150429798|PMID:16365524	20210930	RGD			
12879860	Tg<sup>rdw</sup>	thyroglobulin; rdw mutant	gene	DOID:9007661	Dwarfism		IAGP		D	RGD:13605608|PMID:10760744	20201210	RGD			
12879860	Tg<sup>rdw</sup>	thyroglobulin; rdw mutant	gene	DOID:9007661	Dwarfism	treatment	IAGP		D	RGD:150429798|PMID:16365524	20210930	RGD			
12879863	Bp402	Blood pressure QTL 402	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879871	Am7	Aortic mass QTL 7	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879872	Cm97	Cardiac mass QTL 97	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879873	Cm96	Cardiac mass QTL 96	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879874	Cm98	Cardiac mass QTL 98	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879875	Kidm64	Kidney mass QTL 64	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879878	Bw183	Body weight QTL 183	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879879	Cm99	Cardiac mass QTL 99	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879880	Cm100	Cardiac mass QTL 100	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879881	Cm101	Cardiac mass QTL 101	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12879882	Am8	Aortic mass QTL 8	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20081029	RGD			
12879883	Kidm65	Kidney mass QTL 65	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170428	RGD			
12880021	SD-<i>Apoe<sup>em1Sage</sup></i>		strain	DOID:13810	familial hypercholesterolemia		IMP		D	RGD:150520219|PMID:29166645	20211108	RGD			
12880022	Apoe<sup>em1Sage</sup>	apolipoprotein E; endonuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs	gene	DOID:13810	familial hypercholesterolemia		IMP		D	RGD:150520219|PMID:29166645	20211111	RGD			
12880023	Bw184	Body weight QTL 184	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20080418	RGD			
12880025	Cm102	Cardiac mass QTL 102	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20080418	RGD			
12880028	Cm103	Cardiac mass QTL 103	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170502	RGD			
12880032	Dmd<sup>em1Ang</sup>	dystrophin; TALEN-induced mutant1, Ang	gene	DOID:11723	Duchenne muscular dystrophy		IMP		D	RGD:12880034|PMID:25310701	20170502	RGD			
12880032	Dmd<sup>em1Ang</sup>	dystrophin; TALEN-induced mutant1, Ang	gene	DOID:12930	dilated cardiomyopathy		IMP		D	RGD:12880034|PMID:25310701	20170502	RGD			
12880032	Dmd<sup>em1Ang</sup>	dystrophin; TALEN-induced mutant1, Ang	gene	DOID:9003139	Cardiac Fibrosis		IMP		D	RGD:12880034|PMID:25310701	20170502	RGD			
12880037	SD-<i>Dmd<sup>em1Ang</sup></i>		strain	DOID:11723	Duchenne muscular dystrophy	MODEL: spontaneous	IMP		D	RGD:12880034|PMID:25310701	20170502	RGD			
12880037	SD-<i>Dmd<sup>em1Ang</sup></i>		strain	DOID:12930	dilated cardiomyopathy		IMP		D	RGD:12880034|PMID:25310701	20170502	RGD			
12880037	SD-<i>Dmd<sup>em1Ang</sup></i>		strain	DOID:9003139	Cardiac Fibrosis		IMP		D	RGD:12880034|PMID:25310701	20170502	RGD			
12880044	Am9	Aortic mass QTL 9	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20081029	RGD			
12880050	Am10	Aortic mass QTL 10	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20081029	RGD			
12880053	Cm104	Cardiac mass QTL 104	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20081029	RGD			
12880368	Bw187	Body weight QTL 187	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20081029	RGD			
12880370	Cm105	Cardiac mass QTL 105	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170503	RGD			
12880371	Cm106	Cardiac mass QTL 106	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170503	RGD			
12880372	Am12	Aortic mass QTL 12	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170503	RGD			
12880375	Kidm66	Kidney mass QTL 66	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170503	RGD			
12880380	Gh1<sup>sdr</sup>		gene	DOID:9007661	Dwarfism		IAGP		D	RGD:1578506|PMID:2152867	20170504	RGD			
12880382	Cacna1a<sup>gry</sup>	calcium voltage-gated channel subunit alpha1 A; groggy mutant	gene	DOID:1825	childhood absence epilepsy		IAGP		D	RGD:1598976|PMID:17196942	20170504	RGD			
12880383	Kcna1<sup>Adms</sup>	potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures	gene	DOID:0050989	episodic ataxia type 1		IAGP		D	RGD:10047237|PMID:22206926	20170504	RGD			
12880383	Kcna1<sup>Adms</sup>	potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		IAGP		D	RGD:10047237|PMID:22206926	20170504	RGD			
12880383	Kcna1<sup>Adms</sup>	potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures	gene	DOID:9003935	Myokymia		IAGP		D	RGD:10047237|PMID:22206926	20170504	RGD			
12880384	Cm107	Cardiac mass QTL 107	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170505	RGD			
12880385	Cm108	Cardiac mass QTL 108	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170505	RGD			
12880395	Cm109	Cardiac mass QTL 109	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170505	RGD			
12880396	Am13	Aortic mass QTL 13	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170505	RGD			
12880398	Kidm67	Kidney mass QTL 67	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170505	RGD			
12902615	Bw185	Body weight QTL 185	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170615	RGD			
12902622	Bdnf<sup>em1Sage</sup>	brain-derived neurotrophic factor; ZFN induced mutant 1, Sage	gene	DOID:9005632	Cocaine-Related Disorders	severity	IMP		D	RGD:38501054|PMID:23583595	20200820	RGD			
12903245	Cm110	Cardiac mass QTL 110	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170510	RGD			
12903246	Cm111	Cardiac mass QTL 111	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170510	RGD			
12903247	Cm112	Cardiac mass QTL 112	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170510	RGD			
12903248	Am14	Aortic mass QTL 14	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170510	RGD			
12903249	Kidm68	Kidney mass QTL 68	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170510	RGD			
12903278	Am16	Aortic mass QTL 16	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170511	RGD			
12903279	Cm115	Cardiac mass QTL 115	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170511	RGD			
12903281	Cm116	Cardiac mass QTL 116	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170511	RGD			
12903952	Cm117	Cardiac mass QTL 117	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170511	RGD			
12903954	Bw186	Body weight QTL 186	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170511	RGD			
12903955	Kidm69	Kidney mass QTL 69	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170511	RGD			
12903978	Cm118	Cardiac mass QTL 118	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170512	RGD			
12903979	Cm119	Cardiac mass QTL 119	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170512	RGD			
12903980	Cm120	Cardiac mass QTL 120	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170512	RGD			
12903981	Am17	Aortic mass QTL 17	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170512	RGD			
12903982	Kidm70	Kidney mass QTL 70	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170512	RGD			
12904067	Cm122	Cardiac mass QTL 122	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170516	RGD			
12904069	Cm123	Cardiac mass QTL 123	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170516	RGD			
12904070	Cm124	Cardiac mass QTL 124	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170516	RGD			
12904071	Am18	Aortic mass QTL 18	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170516	RGD			
12904073	Kidm71	Kidney mass QTL 71	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170516	RGD			
12904668	Bw188	Body weight QTL 188	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170517	RGD			
12904669	Cm125	Cardiac mass QTL 125	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170517	RGD			
12904670	Cm126	Cardiac mass QTL 126	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170517	RGD			
12904673	Cm127	Cardiac mass QTL 127	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170517	RGD			
12904675	Am19	Aortic mass QTL 19	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170517	RGD			
12904677	Kidm72	Kidney mass QTL 72	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170517	RGD			
12904679	WKY-<i>Cyp2j4<sup>em1Sage</sup></i>/Tja		strain	DOID:10952	nephritis		IMP		D	RGD:12904676|PMID:25840911	20170517	RGD			
12904679	WKY-<i>Cyp2j4<sup>em1Sage</sup></i>/Tja		strain	DOID:5199	ureteral obstruction		IMP		D	RGD:12904676|PMID:25840911	20170517	RGD			
12904680	Bw189	Body weight QTL 189	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170517	RGD			
12904681	Cyp2j4<i><sup>em1Sage</sup></i>	cytochrome P450, family 2, subfamily j, polypeptide 4, ZFN induced mutant 1, Sage	gene	DOID:10952	nephritis		IMP		D	RGD:12904676|PMID:25840911	20170517	RGD			
12904681	Cyp2j4<i><sup>em1Sage</sup></i>	cytochrome P450, family 2, subfamily j, polypeptide 4, ZFN induced mutant 1, Sage	gene	DOID:5199	ureteral obstruction		IMP		D	RGD:12904676|PMID:25840911	20170517	RGD			
12904689	Cm128	Cardiac mass QTL 128	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20081029	RGD			
12904690	Cm129	Cardiac mass QTL 129	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170517	RGD			
12904691	Cm130	Cardiac mass QTL 130	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170517	RGD			
12904693	Am20	Aortic mass QTL 20	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170517	RGD			
12904695	Kidm73	Kidney mass QTL 73	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20170517	RGD			
12904897	SD-<i>Tp53<sup>em1Sage</sup></i>		strain	DOID:9000227	Hypogonadism and Testicular Atrophy		IMP		D	RGD:14995504|PMID:28834365	20210928	RGD		compared to SD	
12904898	Tp53<sup>em1Sage</sup>	tumor protein p53; ZFN  induced mutant 1, Sage	gene	DOID:9000227	Hypogonadism and Testicular Atrophy		IMP		D	RGD:14995504|PMID:28834365	20210930	RGD		compared to SD	
12904907	SD-<i>Prkdc<sup>em1Sage</sup></i>		strain	DOID:9003676	Brain Hypoxia-Ischemia	treatment	IMP		D	RGD:39938998|PMID:30485360	20211111	RGD			
12904908	SD-<i>Ldlr<sup>em1Sage</sup></i>		strain	DOID:9000808	Hypercholesterolemia		IMP		D	RGD:12910100|PMID:28469073	20170608	RGD			
12904908	SD-<i>Ldlr<sup>em1Sage</sup></i>		strain	DOID:9006599	Hypertriglyceridemia		IMP		D	RGD:12910100|PMID:28469073	20170608	RGD			
12904909	Ldlr<sup>em1Sage</sup>	low density lipoprotein receptor; ZFN induced mutant 1, Sage	gene	DOID:9000808	Hypercholesterolemia		IMP		D	RGD:12910100|PMID:28469073	20170608	RGD			
12904909	Ldlr<sup>em1Sage</sup>	low density lipoprotein receptor; ZFN induced mutant 1, Sage	gene	DOID:9006599	Hypertriglyceridemia		IMP		D	RGD:12910100|PMID:28469073	20170608	RGD			
12904912	SD-<i>Lep<sup>em1Sage-/-</sup></i>		strain	DOID:10603	glucose intolerance		IMP		D	RGD:12904911|PMID:22948215	20170526	RGD			
12904912	SD-<i>Lep<sup>em1Sage-/-</sup></i>		strain	DOID:2018	hyperinsulinism		IMP		D	RGD:12904911|PMID:22948215	20170526	RGD			
12904912	SD-<i>Lep<sup>em1Sage-/-</sup></i>		strain	DOID:9000808	Hypercholesterolemia		IMP		D	RGD:12904911|PMID:22948215	20170526	RGD			
12904912	SD-<i>Lep<sup>em1Sage-/-</sup></i>		strain	DOID:9006599	Hypertriglyceridemia		IMP		D	RGD:12904911|PMID:22948215	20170526	RGD			
12904912	SD-<i>Lep<sup>em1Sage-/-</sup></i>		strain	DOID:9970	obesity		IMP		D	RGD:12904911|PMID:22948215	20170526	RGD			
12904927	Lep<sup>em1Sage</sup>	leptin; zinc finger nuclease induced mutant1, Sage	gene	DOID:10603	glucose intolerance		IMP		D	RGD:12904911|PMID:22948215	20170526	RGD			
12904927	Lep<sup>em1Sage</sup>	leptin; zinc finger nuclease induced mutant1, Sage	gene	DOID:2018	hyperinsulinism		IMP		D	RGD:12904911|PMID:22948215	20170526	RGD			
12904927	Lep<sup>em1Sage</sup>	leptin; zinc finger nuclease induced mutant1, Sage	gene	DOID:9000808	Hypercholesterolemia		IMP		D	RGD:12904911|PMID:22948215	20170526	RGD			
12904927	Lep<sup>em1Sage</sup>	leptin; zinc finger nuclease induced mutant1, Sage	gene	DOID:9006599	Hypertriglyceridemia		IMP		D	RGD:12904911|PMID:22948215	20170526	RGD			
12904927	Lep<sup>em1Sage</sup>	leptin; zinc finger nuclease induced mutant1, Sage	gene	DOID:9970	obesity		IMP		D	RGD:12904911|PMID:22948215	20170526	RGD			
12910101	SD-<i>Ldlr<sup>em1</sup></i>		strain	DOID:9000808	Hypercholesterolemia		IMP		D	RGD:12910104|PMID:27378433	20170608	RGD			
12910101	SD-<i>Ldlr<sup>em1</sup></i>		strain	DOID:9003370	Dyslipidemias		IMP		D	RGD:12910104|PMID:27378433	20170608	RGD			
12910101	SD-<i>Ldlr<sup>em1</sup></i>		strain	DOID:9006599	Hypertriglyceridemia		IMP		D	RGD:12910104|PMID:27378433	20170608	RGD			
12910102	Ldlr<sup>em1</sup>	low density lipoprotein receptor; ZFN  induced mutant 1	gene	DOID:9000808	Hypercholesterolemia		IMP		D	RGD:12910104|PMID:27378433	20170608	RGD			
12910102	Ldlr<sup>em1</sup>	low density lipoprotein receptor; ZFN  induced mutant 1	gene	DOID:9003370	Dyslipidemias		IMP		D	RGD:12910104|PMID:27378433	20170608	RGD			
12910102	Ldlr<sup>em1</sup>	low density lipoprotein receptor; ZFN  induced mutant 1	gene	DOID:9006599	Hypertriglyceridemia		IMP		D	RGD:12910104|PMID:27378433	20170608	RGD			
12910493	LEW.1WR1-<i>Ifnar1<sup>em1</sup></i>		strain	DOID:9004531	Cardiovirus Infections		IMP		D	RGD:12910492|PMID:27999109	20170616	RGD			
12910493	LEW.1WR1-<i>Ifnar1<sup>em1</sup></i>		strain	DOID:9005643	Experimental Diabetes Mellitus		IMP		D	RGD:12910492|PMID:27999109	20170616	RGD			
12910494	LEW.1WR1-<i>Ifnar1<sup>em2</sup></i>		strain	DOID:9004531	Cardiovirus Infections		IMP		D	RGD:12910492|PMID:27999109	20170616	RGD			
12910494	LEW.1WR1-<i>Ifnar1<sup>em2</sup></i>		strain	DOID:9005643	Experimental Diabetes Mellitus		IMP		D	RGD:12910492|PMID:27999109	20170616	RGD			
12910495	Ifnar1<sup>em1</sup>	interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 1	gene	DOID:9004531	Cardiovirus Infections		IMP		D	RGD:12910492|PMID:27999109	20170616	RGD			
12910495	Ifnar1<sup>em1</sup>	interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 1	gene	DOID:9005643	Experimental Diabetes Mellitus		IMP		D	RGD:12910492|PMID:27999109	20170616	RGD			
12910496	Ifnar1<sup>em2</sup>	interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 2	gene	DOID:9004531	Cardiovirus Infections		IMP		D	RGD:12910492|PMID:27999109	20170616	RGD			
12910496	Ifnar1<sup>em2</sup>	interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 2	gene	DOID:9005643	Experimental Diabetes Mellitus		IMP		D	RGD:12910492|PMID:27999109	20170616	RGD			
12910517	SD-<i>Lepr<sup>em2</sup></i>		strain	DOID:9970	obesity		IMP		D	RGD:12910507|PMID:27225180	20170619	RGD			
12910518	Lepr<sup>em2</sup>	leptin receptor; TALEN induced mutant 2	gene	DOID:9970	obesity		IMP		D	RGD:12910507|PMID:27225180	20170619	RGD			
12910519	SD-<i>Lepr<sup>em3</sup></i>		strain	DOID:9970	obesity		IMP		D	RGD:12910507|PMID:27225180	20170619	RGD			
12910546	Lepr<sup>em3</sup>	leptin receptor; TALEN induced mutant 3	gene	DOID:9970	obesity		IMP		D	RGD:12910507|PMID:27225180	20170619	RGD			
12910736	Esr1<sup>em1Soar</sup>	estrogen receptor 1; ZFN induced mutant 1, Soar	gene	DOID:5223	infertility		IMP		D	RGD:8552987|PMID:24506075	20170623	RGD			
12910762	BN-<i>Kit<sup>Ws</sup></i>		strain	DOID:12449	aplastic anemia	severity	IMP		D	RGD:12910751|PMID:7694680	20170623	RGD			
12910763	Kit<sup>Ws</sup>	KIT proto-oncogene receptor tyrosine kinase; mutant 1	gene	DOID:12449	aplastic anemia	severity	IMP		D	RGD:12910751|PMID:7694680	20170623	RGD			
12910834	Zbtb16<sup>Lx</sup>	zinc finger and BTB domain containing 16, Lx mutant	gene	DOID:1148	polydactyly		IAGP		D	RGD:2312786|PMID:19191224	20170626	RGD			
12910940	SD-<i>Cdkn1b<sup>we</sup></i>		strain	DOID:0050771	pheochromocytoma		IAGP		D	RGD:619590|PMID:12036912	20180503	RGD			
12910940	SD-<i>Cdkn1b<sup>we</sup></i>		strain	DOID:0050773	paraganglioma		IAGP		D	RGD:619590|PMID:12036912	20180503	RGD			
12910940	SD-<i>Cdkn1b<sup>we</sup></i>		strain	DOID:3125	multiple endocrine neoplasia		IAGP		D	RGD:619590|PMID:12036912	20170628	RGD			
12910940	SD-<i>Cdkn1b<sup>we</sup></i>		strain	DOID:3829	pituitary adenoma		IAGP		D	RGD:619590|PMID:12036912	20180503	RGD			
12910940	SD-<i>Cdkn1b<sup>we</sup></i>		strain	DOID:83	cataract		IAGP		D	RGD:619590|PMID:12036912	20170628	RGD			
12910941	Cdkn1b<sup>we</sup>	cyclin-dependent kinase inhibitor 1B; white eye mutation	gene	DOID:0050771	pheochromocytoma		IAGP		D	RGD:619590|PMID:12036912	20201210	RGD			
12910941	Cdkn1b<sup>we</sup>	cyclin-dependent kinase inhibitor 1B; white eye mutation	gene	DOID:0050773	paraganglioma		IAGP		D	RGD:619590|PMID:12036912	20201210	RGD			
12910941	Cdkn1b<sup>we</sup>	cyclin-dependent kinase inhibitor 1B; white eye mutation	gene	DOID:3125	multiple endocrine neoplasia		IAGP		D	RGD:2293616|PMID:17030811	20170628	RGD			
12910941	Cdkn1b<sup>we</sup>	cyclin-dependent kinase inhibitor 1B; white eye mutation	gene	DOID:3125	multiple endocrine neoplasia		IAGP		D	RGD:619590|PMID:12036912	20201210	RGD			
12910941	Cdkn1b<sup>we</sup>	cyclin-dependent kinase inhibitor 1B; white eye mutation	gene	DOID:3829	pituitary adenoma		IAGP		D	RGD:619590|PMID:12036912	20201210	RGD			
12910941	Cdkn1b<sup>we</sup>	cyclin-dependent kinase inhibitor 1B; white eye mutation	gene	DOID:83	cataract		IAGP		D	RGD:2293616|PMID:17030811	20170628	RGD			
12910941	Cdkn1b<sup>we</sup>	cyclin-dependent kinase inhibitor 1B; white eye mutation	gene	DOID:83	cataract		IAGP		D	RGD:619590|PMID:12036912	20201210	RGD			
12910954	Csf1<sup>tl</sup>	colony stimulating factor 1; tooth less mutant	gene	DOID:13533	osteopetrosis		IAGP		D	RGD:628338|PMID:12379742	20170629	RGD			
12910954	Csf1<sup>tl</sup>	colony stimulating factor 1; tooth less mutant	gene	DOID:9007083	Edentulous Mouth		IAGP		D	RGD:628338|PMID:12379742	20180430	RGD			
1298065	Scl16	Serum cholesterol level QTL 16	qtl	DOID:9000808	Hypercholesterolemia		IDA		D	RGD:737694|PMID:14739155	19990101	RGD			
1298066	Bp159	Blood pressure QTL 159	qtl	DOID:10763	hypertension		IDA		D	RGD:61040|PMID:9685318	19990101	RGD			
1298066	Bp159	Blood pressure QTL 159	qtl	DOID:10763	hypertension		IDA		D	RGD:61047|PMID:9271663	19990101	RGD			
1298067	Scl15	Serum cholesterol level QTL 15	qtl	DOID:9000808	Hypercholesterolemia		IDA		D	RGD:737694|PMID:14739155	19990101	RGD			
1298068	Bp167	Blood pressure QTL 167	qtl	DOID:10763	hypertension		IDA		D	RGD:61042|PMID:7963489	19990101	RGD			
1298069	Bp168	Blood pressure QTL 168	qtl	DOID:10763	hypertension		IDA		D	RGD:61040|PMID:9685318	19990101	RGD			
1298070	Scl18	Serum cholesterol level QTL 18	qtl	DOID:9000808	Hypercholesterolemia		IDA		D	RGD:737694|PMID:14739155	19990101	RGD			
1298071	Edpm12	Estrogen-dependent pituitary mass QTL 12	qtl	DOID:9002234	Pituitary Neoplasms		IAGP		D	RGD:629550|PMID:11003699	19990101	RGD			
1298072	Cia26	Collagen induced arthritis QTL 26	qtl	DOID:9002457	Experimental Arthritis		IDA		D	RGD:1285224|PMID:15334486	19990101	RGD			
1298073	Cm13	Cardiac mass QTL 13	qtl	DOID:10763	hypertension		IDA		D	RGD:69705|PMID:9922389	19990101	RGD			
1298074	Bp164	Blood pressure QTL 164	qtl	DOID:10763	hypertension		IAGP		D	RGD:728179|PMID:11980293	19990101	RGD			
1298075	Scl17	Serum cholesterol level QTL 17	qtl	DOID:9000808	Hypercholesterolemia		IDA		D	RGD:737694|PMID:14739155	19990101	RGD			
1298076	Bp166	Blood pressure QTL 166	qtl	DOID:10763	hypertension		IAGP		D	RGD:728179|PMID:11980293	19990101	RGD			
1298077	Bp157	Blood pressure QTL 157	qtl	DOID:9006024	Hypotension		IDA		D	RGD:619649|PMID:11875185	19990101	RGD			
1298079	Activ2	Activity QTL 2	qtl	DOID:9002362	Hyperkinesis		QTM		D	RGD:631228|PMID:12660808	19990101	RGD			
1298080	Bp163	Blood pressure QTL 163	qtl	DOID:10763	hypertension		IDA		D	RGD:68910|PMID:10642295	19990101	RGD			
1298080	Bp163	Blood pressure QTL 163	qtl	DOID:10763	hypertension		IDA		D	RGD:69705|PMID:9922389	19990101	RGD			
1298081	Cia25	Collagen induced arthritis QTL 25	qtl	DOID:9002457	Experimental Arthritis		IDA		D	RGD:1285224|PMID:15334486	19990101	RGD			
1298083	Bp158	Blood pressure QTL 158	qtl	DOID:10763	hypertension		IDA		D	RGD:61038|PMID:8040284	19990101	RGD			
1298084	Thym4	Thymus enlargement QTL 4	qtl	DOID:9004911	Thymus Hyperplasia		IDA		D	RGD:70859|PMID:10792781	19990101	RGD			
1298085	Bp165	Blood pressure QTL 165	qtl	DOID:10763	hypertension		IAGP		D	RGD:728179|PMID:11980293	19990101	RGD			
1298086	Bp156	Blood pressure QTL 156	qtl	DOID:9006024	Hypotension		IDA		D	RGD:619649|PMID:11875185	19990101	RGD			
1298087	Iddm18	Insulin dependent diabetes mellitus QTL 18	qtl	DOID:9744	type 1 diabetes mellitus		IAGP		D	RGD:619685|PMID:11327715	19990101	RGD			
1298088	Edpm11	Estrogen-dependent pituitary mass QTL 11	qtl	DOID:9002234	Pituitary Neoplasms		IAGP		D	RGD:629550|PMID:11003699	19990101	RGD			
1298089	Scl14	Serum cholesterol level QTL 14	qtl	DOID:9000808	Hypercholesterolemia		IDA		D	RGD:737694|PMID:14739155	19990101	RGD			
1298090	Bp155	Blood pressure QTL 155	qtl	DOID:10763	hypertension		IAGP		D	RGD:731210|PMID:14678232	20100217	RGD			
1298093	LEW/NHsd		strain	DOID:0050742	nicotine dependence		IAGP		D	RGD:401959299|PMID:21745336	20240118	RGD		compared to Fischer344 rats	
1298524	Oia8	Oil induced arthritis QTL 8	qtl	DOID:9002457	Experimental Arthritis		IAGP		D	RGD:629560|PMID:12571866	19990101	RGD			
1298525	Cm1	Cardiac mass QTL 1	qtl	DOID:10763	hypertension		IAGP		D	RGD:69710|PMID:9383281	19990101	RGD			
1298525	Cm1	Cardiac mass QTL 1	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:69710|PMID:9383281	19990101	RGD			
1298528	Bp169	Blood pressure QTL 169	qtl	DOID:9006024	Hypotension		IDA		D	RGD:69711|PMID:11247666	19990101	RGD			
1299871	DA.F344-(<I>D20Arb2-D20Arb8</I>)/Arb		strain	DOID:7148	rheumatoid arthritis	MODEL: induced	IAGP	XCO:0000281	D	RGD:629569|PMID:12209529	20070214	RGD			
1299872	DA.F344-(<I>D8Arb15-D8Arb22</I>)/Arb		strain	DOID:9002457	Experimental Arthritis	induces	IAGP	XCO:0000281|XCO:0000263	D	RGD:629569|PMID:12209529	20200720	RGD			
1299872	DA.F344-(<I>D8Arb15-D8Arb22</I>)/Arb		strain	DOID:9002457	Experimental Arthritis	penetrance	IAGP	XCO:0000265	D	RGD:629569|PMID:12209529	20200720	RGD			
1299875	DA.F344-(<i>D7Rat22-D7Mit2</i>)/Nsi		strain	DOID:9002457	Experimental Arthritis	induces	IAGP	XCO:0000281|XCO:0000263|XCO:0000265	D	RGD:629569|PMID:12209529	20200720	RGD			
1299876	SS.LEW-(<I>D5Rat54-D5Rat108</I>)/Jr		strain	DOID:10763	hypertension	induces	IAGP	XCO:0000022	D	RGD:619649|PMID:11875185	19990101	RGD			
1299877	DA.F344-(<I>D10Rat204-D10Arb22</I>)/Arb		strain	DOID:9002457	Experimental Arthritis	induces	IAGP	XCO:0000281|XCO:0000263	D	RGD:629569|PMID:12209529	20200720	RGD			
1299877	DA.F344-(<I>D10Rat204-D10Arb22</I>)/Arb		strain	DOID:9002457	Experimental Arthritis	penetrance	IAGP	XCO:0000265	D	RGD:629569|PMID:12209529	20200720	RGD			
1299878	DA.F344-(<I>D4Arb30-D4Arb4</I>)/Arb		strain	DOID:9002457	Experimental Arthritis	MODEL: induced	IAGP	XCO:0000281| XCO:0000263	D	RGD:7243954|PMID:22076633	20130604	RGD			
1299878	DA.F344-(<I>D4Arb30-D4Arb4</I>)/Arb		strain	DOID:9002457	Experimental Arthritis	induces	IAGP	XCO:0000281|XCO:0000263	D	RGD:629569|PMID:12209529	20200720	RGD			
1299878	DA.F344-(<I>D4Arb30-D4Arb4</I>)/Arb		strain	DOID:9002457	Experimental Arthritis	penetrance	IAGP	XCO:0000265	D	RGD:629569|PMID:12209529	20200720	RGD			
1299880	F344.DA-(<I>D20Arb2-D20Arb8</I>)/Arb		strain	DOID:848	arthritis	induces	IAGP	XCO:0000281,XCO:0000263,XCO:0000265	D	RGD:629569|PMID:12209529	19990101	RGD		compared to DA/Bkl	
1300075	Glom7	Glomerulus QTL 7	qtl	DOID:9001542	Albuminuria		IAGP		D	RGD:730279|PMID:14638907	19990101	RGD			
1300076	Glom8	Glomerulus QTL 8	qtl	DOID:9001542	Albuminuria		IAGP		D	RGD:730279|PMID:14638907	19990101	RGD			
1300107	Rf18	Renal function QTL 18	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300107	Rf18	Renal function QTL 18	qtl	DOID:9005274	Polyuria		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300108	Rf8	Renal function QTL 8	qtl	DOID:1073	renal hypertension		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300108	Rf8	Renal function QTL 8	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300109	Rf13	Renal function QTL 13	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300110	Stl7	Serum triglyceride level QTL 7	qtl	DOID:9006599	Hypertriglyceridemia		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300111	Rf12	Renal function QTL 12	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300111	Rf12	Renal function QTL 12	qtl	DOID:557	kidney disease		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300112	Bp183	Blood pressure QTL 183	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300113	Bp176	Blood pressure QTL 176	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300114	Srn2	Serum renin concentration QTL 2	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300115	Hrtrt7	Heart rate QTL 7	qtl	DOID:114	heart disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300116	Hrtrt5	Heart rate QTL 5	qtl	DOID:114	heart disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300117	Hrtrt8	Heart rate QTL 8	qtl	DOID:9006599	Hypertriglyceridemia		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300118	Bp190	Blood pressure QTL 190	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300119	Bp180	Blood pressure QTL 180	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300120	Kidm7	Kidney mass QTL 7	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300121	Hrtrt1	Heart rate QTL 1	qtl	DOID:114	heart disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300122	Wbc1	White blood cell count QTL 1	qtl	DOID:114	heart disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300122	Wbc1	White blood cell count QTL 1	qtl	DOID:9005372	Inflammation		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300123	Bp194	Blood pressure QTL 194	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300124	Cm4	Cardiac mass QTL 4	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300124	Cm4	Cardiac mass QTL 4	qtl	DOID:9003936	Cardiomegaly		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300125	Rf26	Renal function QTL 26	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300126	Bp175	Blood pressure QTL 175	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300127	Srn1	Serum renin concentration QTL 1	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300128	Rf16	Renal function QTL 16	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300129	Rf25	Renal function QTL 25	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300130	Rf20	Renal function QTL 20	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300130	Rf20	Renal function QTL 20	qtl	DOID:1312	focal segmental glomerulosclerosis		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300131	Bp193	Blood pressure QTL 193	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300132	Bp182	Blood pressure QTL 182	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300133	Rf24	Renal function QTL 24	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300134	Bp185	Blood pressure QTL 185	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300135	Rf19	Renal function QTL 19	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300135	Rf19	Renal function QTL 19	qtl	DOID:576	proteinuria		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300136	Rf22	Renal function QTL 22	qtl	DOID:1073	renal hypertension		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300136	Rf22	Renal function QTL 22	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300137	Bp186	Blood pressure QTL 186	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300138	Hrtrt9	Heart rate QTL 9	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300139	Hrtrt6	Heart rate QTL 6	qtl	DOID:114	heart disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300140	Srn3	Serum renin concentration QTL 3	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300141	Bp178	Blood pressure QTL 178	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300142	Bp191	Blood pressure QTL 191	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300143	Rf14	Renal function QTL 14	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300144	Rf23	Renal function QTL 23	qtl	DOID:1073	renal hypertension		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300144	Rf23	Renal function QTL 23	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300145	Rf7	Renal function QTL 7	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300146	Rf17	Renal function QTL 17	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300147	Bp187	Blood pressure QTL 187	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300148	Bp192	Blood pressure QTL 192	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300149	Cm6	Cardiac mass QTL 6	qtl	DOID:9003936	Cardiomegaly		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300150	Cm3	Cardiac mass QTL 3	qtl	DOID:9003936	Cardiomegaly		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300151	Bp181	Blood pressure QTL 181	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300152	Bp195	Blood pressure QTL 195	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300153	Bp171	Blood pressure QTL 171	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300154	Bp189	Blood pressure QTL 189	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300155	Bp174	Blood pressure QTL 174	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300155	Bp174	Blood pressure QTL 174	qtl	DOID:576	proteinuria		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300156	Bp179	Blood pressure QTL 179	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300157	Rf21	Renal function QTL 21	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300157	Rf21	Renal function QTL 21	qtl	DOID:557	kidney disease		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300158	Bp173	Blood pressure QTL 173	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300159	Kidm4	Kidney mass QTL 4	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300160	Hrtrt3	Heart rate QTL 3	qtl	DOID:10763	hypertension		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300160	Hrtrt3	Heart rate QTL 3	qtl	DOID:114	heart disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300161	Rf10	Renal function QTL 10	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300162	Bp188	Blood pressure QTL 188	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300163	Cardf1	Cardiac cell morphology QTL 1	qtl	DOID:520	aortic disease		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300164	Rf15	Renal function QTL 15	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300165	Rf9	Renal function QTL 9	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300165	Rf9	Renal function QTL 9	qtl	DOID:1312	focal segmental glomerulosclerosis		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300166	Kidm6	Kidney mass QTL 6	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300167	Hrtrt2	Heart rate QTL 2	qtl	DOID:114	heart disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300168	Bp170	Blood pressure QTL 170	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300169	Bp177	Blood pressure QTL 177	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300170	Rf6	Renal function QTL 6	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300171	Bp184	Blood pressure QTL 184	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300172	Bp172	Blood pressure QTL 172	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300173	Rf11	Renal function QTL 11	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300175	Cm5	Cardiac mass QTL 5	qtl	DOID:9003936	Cardiomegaly		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300176	Hrtrt10	Heart rate QTL 10	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300177	Cm2	Cardiac mass QTL 2	qtl	DOID:10763	hypertension		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300177	Cm2	Cardiac mass QTL 2	qtl	DOID:9003936	Cardiomegaly		IDA		D	RGD:727992|PMID:14532335	19990101	RGD			
1300178	Hrtrt4	Heart rate QTL 4	qtl	DOID:114	heart disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1300179	Kidm5	Kidney mass QTL 5	qtl	DOID:557	kidney disease		IAGP		D	RGD:727992|PMID:14532335	19990101	RGD			
1302372	SDDIO/Rrrc		strain	DOID:9970	obesity	MODEL: spontaneous	IAGP		D	RGD:1302371|PMID:9277561	19990101	RGD		compared to SDDR/Rrrc strain	
1302372	SDDIO/Rrrc		strain	DOID:9970	obesity	MODEL: spontaneous	IAGP		D	RGD:21408576|PMID:27173431	20200320	RGD		compared to SDDR/Rrrc strain	
1302373	SDDR/Rrrc		strain	DOID:9970	obesity	MODEL: control	IAGP		D	RGD:1302371|PMID:9277561	20200320	RGD		compared to SDDIO/Rrrc strain	
1302373	SDDR/Rrrc		strain	DOID:9970	obesity	MODEL: control	IAGP		D	RGD:21408576|PMID:27173431	20200320	RGD		compared to SDDIO/Rrrc strain	
1302377	SPRD-<i>Anks6<sup>PKD</sup></i>/Rrrc		strain	DOID:0080322	polycystic kidney disease		IAGP		D	RGD:1300446|PMID:7933831	20200416	RGD			
1302377	SPRD-<i>Anks6<sup>PKD</sup></i>/Rrrc		strain	DOID:4676	uremia		IAGP		D	RGD:1300446|PMID:7933831	20200416	RGD			
1302377	SPRD-<i>Anks6<sup>PKD</sup></i>/Rrrc		strain	DOID:576	proteinuria		IAGP		D	RGD:1300446|PMID:7933831	20200416	RGD			
1302404	Cia27	Collagen induced arthritis QTL 27	qtl	DOID:9002457	Experimental Arthritis		IDA		D	RGD:61063|PMID:9870869	19990101	RGD			
1302597	LEXF7C/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	induces	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302600	HTX/Kyo	hydrocephalus texas	strain	DOID:10908	hydrocephalus	penetrance	IAGP		D	RGD:1302443|PMID:10661794	19990101	RGD			
1302604	LEXF4/Stm		strain	DOID:0080916	erythroleukemia	penetrance	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	19990101	RGD			
1302604	LEXF4/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	penetrance	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302605	LEXF2A/Stm		strain	DOID:0080916	erythroleukemia	penetrance	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	19990101	RGD			
1302605	LEXF2A/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	penetrance	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302610	KMI/Tky	miniature rat ishikawa	strain	DOID:9007661	Dwarfism		IAGP		D	RGD:150429792|PMID:15466490	20210929	RGD		compared to wild type	
1302610	KMI/Tky	miniature rat ishikawa	strain	DOID:9007661	Dwarfism		IAGP		D	RGD:150429793|PMID:19149413	20210929	RGD		compared to wild type, and heterozygous litter mates	
1302612	LEXF10C/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	induces	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302616	LEXF10B/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	penetrance	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302618	LEXF9/Stm		strain	DOID:0080916	erythroleukemia	induces	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	19990101	RGD			
1302621	LEXF10A/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	induces	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302623	TM/Kyo	tester moriyama rat	strain	DOID:2223	platelet storage pool deficiency		IAGP		D	RGD:1302447|PMID:9250486	19990101	RGD			
1302627	F344/NSlc		strain	DOID:4195	hyperglycemia	MODEL: control	IAGP	XCO:0000275	D	RGD:625760|PMID:12420133	20201201	RGD		compared to F.O-Nidd4/of,F.O-Nidd10/of,F.O-Nidd1/of,F.O-Nidd3/of	
1302627	F344/NSlc		strain	DOID:9351	diabetes mellitus	MODEL: control	IAGP		D	RGD:2298688|PMID:18612083	20200130	RGD		compared to SDT/Jcl	
1302636	WKY.SHRSP-(<I>D1Wox29-D1Arb21</I>)/Izm		strain	DOID:10763	hypertension	susceptibility	IAGP		D	RGD:1302892|PMID:15480093	19990101	RGD		compared to WKY/Izm	
1302636	WKY.SHRSP-(<I>D1Wox29-D1Arb21</I>)/Izm		strain	DOID:9003968	Stress-Induced Hypertension	induces	IAGP	XCO:0000337	D	RGD:1578503|PMID:16239369	20191209	RGD		compared to hypertensive strain SHRSP/Izm	
1302638	LEXF11/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	induces	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302641	LEXF1A/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	induces	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302645	DMY/Kyo	demyelination rat	strain	DOID:3213	demyelinating disease	MODEL: spontaneous	IAGP		D	RGD:12793070|PMID:21253565	20170320	RGD		DNA:missense mutation:intron (Mrs2)	
1302646	LEXF2C/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	induces	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302648	LEC/Hok	Long Evans Cinnamon	strain	DOID:2237	hepatitis		IAGP		D	RGD:1302497|PMID:3429843	19990101	RGD			
1302648	LEC/Hok	Long Evans Cinnamon	strain	DOID:2237	hepatitis		IAGP		D	RGD:25823153|PMID:3392951	20200501	RGD			
1302648	LEC/Hok	Long Evans Cinnamon	strain	DOID:684	hepatocellular carcinoma	onset	IAGP		D	RGD:15036817|PMID:8291609	20191120	RGD			
1302648	LEC/Hok	Long Evans Cinnamon	strain	DOID:893	Wilson disease	MODEL	IAGP	XCO:0000212	D	RGD:25823141|PMID:30733544	20200708	RGD		compared to LEA/Hok	
1302648	LEC/Hok	Long Evans Cinnamon	strain	DOID:893	Wilson disease	MODEL: induced	IAGP	XCO:0000212	D	RGD:35316074|PMID:24358170	20200708	RGD		compared to LEA/Hok	
1302648	LEC/Hok	Long Evans Cinnamon	strain	DOID:893	Wilson disease	MODEL: spontaneous	IAGP		D	RGD:25823154|PMID:1561010	20200501	RGD			
1302648	LEC/Hok	Long Evans Cinnamon	strain	DOID:893	Wilson disease	MODEL: spontaneous	IAGP		D	RGD:631728|PMID:7951327	20170628	RGD			
1302648	LEC/Hok	Long Evans Cinnamon	strain	DOID:9004590	Acute Liver Failure		IAGP		D	RGD:15036817|PMID:8291609	20191120	RGD			
1302649	LEXF7B/Stm		strain	DOID:0080916	erythroleukemia	penetrance	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	19990101	RGD			
1302649	LEXF7B/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	penetrance	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302652	LEXF7A/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	induces	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302653	LEXF8A/Stm		strain	DOID:0080916	erythroleukemia	penetrance	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	19990101	RGD			
1302654	F344.OLETF-(<i>D7Mgh16-D7Mgh20</i>)/Tj		strain	DOID:4195	hyperglycemia	MODEL: induced	IAGP	XCO:0000275	D	RGD:625760|PMID:12420133	20201201	RGD		compared to F344/NSlc	
1302660	RCS/Kyo	royal college of surgeons rat	strain	DOID:8466	retinal degeneration	MODEL: spontaneous	IAGP		D	RGD:69668|PMID:11592982	20190802	RGD			
1302663	F344.OLETF-(<i>D11Rat4-D11Rat1</i>)/Tj		strain	DOID:4195	hyperglycemia	MODEL: induced	IAGP	XCO:0000275	D	RGD:625760|PMID:12420133	20201201	RGD		compared to F344/NSlc	
1302666	LEXF1C/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	induces	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302678	NAR/Slc	non albumin rat	strain	DOID:9000568	Analbuminemia	susceptibility	IAGP		D	RGD:126781840|PMID:451621	20210421	RGD			
1302679	TRMR/Kyo	tremor resistant	strain	DOID:9000495	Tremor	MODEL: control	IAGP		D	RGD:11060746|PMID:25970616	20200910	RGD		compared to TRM/Kyo	
1302679	TRMR/Kyo	tremor resistant	strain	DOID:9000495	Tremor	MODEL: induced	IMP		D	RGD:11060746|PMID:25970616	20180103	RGD		induced by HCN1 channel blocker ZD7288	
1302685	F344.OLETF-(<i>D14Rat8-D14Rat26</i>)/Tj		strain	DOID:4195	hyperglycemia	MODEL: induced	IAGP	XCO:0000275	D	RGD:625760|PMID:12420133	20090211	RGD		compared to F344/NSlc	
1302686	F344/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	induces	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302695	SER/Kyo	spontaneously epileptic rat	strain	DOID:11832	visual epilepsy	MODEL: spontaneous	IAGP		D	RGD:1302445|PMID:3559168	20200923	RGD		compared to heterozygous rats	
1302695	SER/Kyo	spontaneously epileptic rat	strain	DOID:11832	visual epilepsy	MODEL: spontaneous	IAGP		D	RGD:1600256|PMID:17326796	20070306	RGD		compared to Wistar rats	
1302695	SER/Kyo	spontaneously epileptic rat	strain	DOID:7725	epilepsy with generalized tonic-clonic seizures	treatment	IAGP		D	RGD:39128157|PMID:16146430	20200923	RGD			
1302697	KND/Tky	komeda non-diabetic rat	strain	DOID:9744	type 1 diabetes mellitus	MODEL: control	IAGP		D	RGD:41412159|PMID:10395228	20210218	RGD		compared to KDP/Tky	
1302698	SDR/Slc	Spontaneous dwarf rat	strain	DOID:0060870	isolated growth hormone deficiency		IAGP		D	RGD:1578505|PMID:2752987	19990101	RGD			
1302698	SDR/Slc	Spontaneous dwarf rat	strain	DOID:9007661	Dwarfism		IAGP		D	RGD:1578505|PMID:2752987	20170504	RGD			
1302698	SDR/Slc	Spontaneous dwarf rat	strain	DOID:9007661	Dwarfism		IAGP		D	RGD:1578506|PMID:2152867	20170504	RGD			
1302699	LEXF8D/Stm		strain	DOID:0080916	erythroleukemia	penetrance	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302699	LEXF8D/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	penetrance	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302702	TRM/Kyo	tremor rat	strain	DOID:1825	childhood absence epilepsy	MODEL: spontaneous	IAGP		D	RGD:13602101|PMID:3104669	20090209	RGD			
1302702	TRM/Kyo	tremor rat	strain	DOID:9000495	Tremor		IAGP		D	RGD:11060746|PMID:25970616	20180103	RGD			
1302707	LEXF3/Stm		strain	DOID:0080916	erythroleukemia	penetrance	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	19990101	RGD			
1302707	LEXF3/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	penetrance	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302710	LEXF2B/Stm		strain	DOID:0081312	T-cell non-Hodgkin lymphoma	induces	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	20200320	RGD			
1302711	ExHC/Seac		strain	DOID:9000808	Hypercholesterolemia	induces	IAGP	XCO:0000246, XCO:0000025	D	RGD:2300117|PMID:18753676	20100217	RGD			
1302713	F344.OLETF-(<i>D8Rat58-D8Mgh17</i>)/Tj		strain	DOID:4195	hyperglycemia		IAGP		D	RGD:2300331|PMID:18421176	20080912	RGD		heterozygous genotype at the Niddm21 locus	
1302713	F344.OLETF-(<i>D8Rat58-D8Mgh17</i>)/Tj		strain	DOID:4195	hyperglycemia	MODEL: induced	IAGP	XCO:0000275	D	RGD:625760|PMID:12420133	20201201	RGD		compared to F344/NSlc	
1302721	LEC/Tj		strain	DOID:2697	renal adenoma	induces	IAGP	XCO:0000206	D	RGD:1302456|PMID:11509115	20191119	RGD			
1302721	LEC/Tj		strain	DOID:686	liver carcinoma	induces	IAGP	XCO:0000206	D	RGD:1302456|PMID:11509115	20191119	RGD			
1302721	LEC/Tj		strain	DOID:9007188	Liver Neoplasms		IAGP		D	RGD:1302456|PMID:11509115	20191119	RGD			
1302723	LEXF5/Stm		strain	DOID:0080916	erythroleukemia	penetrance	IAGP	XCO:0000437	D	RGD:619600|PMID:10360666	19990101	RGD			
1302728	MES/Slc	Matsumoto Eosinophilia Shinshu	strain	DOID:9001371	Eosinophilia		IAGP		D	RGD:11040542|PMID:19406829	20170828	RGD			
1302728	MES/Slc	Matsumoto Eosinophilia Shinshu	strain	DOID:9001371	Eosinophilia		IAGP		D	RGD:5134976|PMID:20660993	20200708	RGD			
1302728	MES/Slc	Matsumoto Eosinophilia Shinshu	strain	DOID:9001371	Eosinophilia		IAGP		D	RGD:5134988|PMID:21512270	20110711	RGD			
1302786	Kidm8	Kidney mass QTL 8	qtl	DOID:0080322	polycystic kidney disease		IDA		D	RGD:629573|PMID:9097967	19990101	RGD			
1302786	Kidm8	Kidney mass QTL 8	qtl	DOID:4676	uremia		IDA		D	RGD:629573|PMID:9097967	19990101	RGD			
1302787	Stl25	Serum triglyceride level QTL 25	qtl	DOID:9000808	Hypercholesterolemia		IDA		D	RGD:1299960|PMID:14709677	19990101	RGD			
1302788	Scl19	Serum cholesterol QTL 19	qtl	DOID:9000808	Hypercholesterolemia		IDA		D	RGD:1299960|PMID:14709677	19990101	RGD			
1302789	Stl26	Serum triglyceride level QTL 26	qtl	DOID:9000808	Hypercholesterolemia		IDA		D	RGD:1299960|PMID:14709677	19990101	RGD			
1302791	Stl29	Serum triglyceride level QTL 29	qtl	DOID:9000808	Hypercholesterolemia		IDA		D	RGD:1299960|PMID:14709677	19990101	RGD			
1302791	Stl29	Serum triglyceride level QTL 29	qtl	DOID:9006599	Hypertriglyceridemia		IAGP		D	RGD:1299960|PMID:14709677	20121002	RGD			
1302791	Stl29	Serum triglyceride level QTL 29	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1299960|PMID:14709677	20121002	RGD			
1302793	Bw16	Body weight QTL 16	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1299960|PMID:14709677	19990101	RGD			
1302793	Bw16	Body weight QTL 16	qtl	DOID:9970	obesity		IAGP		D	RGD:1299960|PMID:14709677	19990101	RGD			
1302794	Stl27	Serum triglyceride level QTL 27	qtl	DOID:9000808	Hypercholesterolemia		IDA		D	RGD:1299960|PMID:14709677	19990101	RGD			
1302795	HTG	Prague hypertriglyceridemic	strain	DOID:10763	hypertension		IAGP		D	RGD:1299960|PMID:14709677	19990101	RGD			
1302795	HTG	Prague hypertriglyceridemic	strain	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	20200416	RGD			
1302795	HTG	Prague hypertriglyceridemic	strain	DOID:9006599	Hypertriglyceridemia		IAGP		D	RGD:1299960|PMID:14709677	19990101	RGD			
1302921	F344-Tg(NPHS2-HBEGF)Wig		strain	DOID:0050851	glomerulosclerosis	induces	IMP	XCO:0000736	D	RGD:1556472|PMID:16107576	20200908	RGD			
1302934	St8sia5	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302934	St8sia5	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	gene	DOID:1909	melanoma		ISO	RGD:1349184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1302934	St8sia5	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302934	St8sia5	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1302934	St8sia5	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1349184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1302935	Nudt19	nudix hydrolase 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302935	Nudt19	nudix hydrolase 19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1302935	Nudt19	nudix hydrolase 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302935	Nudt19	nudix hydrolase 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302935	Nudt19	nudix hydrolase 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1302936	C1rl	complement C1r subcomponent like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302936	C1rl	complement C1r subcomponent like	gene	DOID:10534	stomach cancer		ISO	RGD:1346889	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302936	C1rl	complement C1r subcomponent like	gene	DOID:1115	sarcoma		ISO	RGD:1346889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302936	C1rl	complement C1r subcomponent like	gene	DOID:1909	melanoma		ISO	RGD:1346889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1302936	C1rl	complement C1r subcomponent like	gene	DOID:4362	cervical cancer		ISO	RGD:1346889	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302936	C1rl	complement C1r subcomponent like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346889	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1302936	C1rl	complement C1r subcomponent like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302937	Krt13	keratin 13	gene	DOID:0050448	white sponge nevus		ISO	RGD:1349257	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	
1302937	Krt13	keratin 13	gene	DOID:0050448	white sponge nevus		ISS	RGD:1332221	D	RGD:13592920	20230718	MouseDO			
1302937	Krt13	keratin 13	gene	DOID:0081288	white sponge nevus 2		ISO	RGD:1349257	D	RGD:7240710	20230201	OMIM			
1302937	Krt13	keratin 13	gene	DOID:0081288	white sponge nevus 2		ISO	RGD:1349257	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KRT13-related condition | ClinVar Annotator: match by term: WHITE SPONGE NEVUS 2 | ClinVar Annotator: match by term: White sponge nevus 2	PMID:25741868|PMID:28492532
1302937	Krt13	keratin 13	gene	DOID:1324	lung cancer		ISO	RGD:1349257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302937	Krt13	keratin 13	gene	DOID:3275	thymoma		ISO	RGD:1349257	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1302937	Krt13	keratin 13	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1349257	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
1302937	Krt13	keratin 13	gene	DOID:4362	cervical cancer		ISO	RGD:1349257	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302937	Krt13	keratin 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349257	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302937	Krt13	keratin 13	gene	DOID:630	genetic disease		ISO	RGD:1349257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1302937	Krt13	keratin 13	gene	DOID:9007168	Genetic Skin Diseases	susceptibility	ISO	RGD:1349257	D	RGD:1304472|PMID:7493031	20070301	RGD		DNA:missense mutation: ; white sponge nevus, OMIM:193900	
1302939	Eef1g	eukaryotic translation elongation factor 1 gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302939	Eef1g	eukaryotic translation elongation factor 1 gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1349957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302939	Eef1g	eukaryotic translation elongation factor 1 gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302939	Eef1g	eukaryotic translation elongation factor 1 gamma	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1302939	Eef1g	eukaryotic translation elongation factor 1 gamma	gene	DOID:4362	cervical cancer		ISO	RGD:1349957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302939	Eef1g	eukaryotic translation elongation factor 1 gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302939	Eef1g	eukaryotic translation elongation factor 1 gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302939	Eef1g	eukaryotic translation elongation factor 1 gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:0112123	deafness, dystonia, and cerebral hypomyelination		ISO	RGD:1349319	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:0112123	deafness, dystonia, and cerebral hypomyelination		ISO	RGD:1349319	D	RGD:7240710	20131106	OMIM			
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:0112123	deafness, dystonia, and cerebral hypomyelination		ISO	RGD:1349319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BCAP31-related condition | ClinVar Annotator: match by term: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION | ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	PMID:25741868|PMID:28492532
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1349319	D	RGD:7483567|PMID:24011989	20131202	RGD		DNA:mutation, deletion:exon:p.Q33X (human)	
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:10534	stomach cancer		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:10907	microcephaly		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:10329713|PMID:17056546|PMID:18287538|PMID:24597975|PMID:25741868|PMID:28492532
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:1891	optic nerve disease		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:480	movement disease		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:630	genetic disease		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302944	Bcap31	B-cell receptor-associated protein 31	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349319	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1302945	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302945	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302945	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302945	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302945	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302945	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1302945	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1302945	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302945	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1302945	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302945	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1302945	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1302945	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1302945	Naprt	nicotinate phosphoribosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302946	Capn11	calpain 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302946	Capn11	calpain 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302946	Capn11	calpain 11	gene	DOID:10534	stomach cancer		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302946	Capn11	calpain 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1302946	Capn11	calpain 11	gene	DOID:4362	cervical cancer		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302946	Capn11	calpain 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1302946	Capn11	calpain 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342957	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1302946	Capn11	calpain 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1302946	Capn11	calpain 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1302946	Capn11	calpain 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353438	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121792
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:1612	breast cancer		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:1909	melanoma		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1353438	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121792
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:3275	thymoma		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1353438	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1353438	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353438	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302948	Tacc3	transforming, acidic coiled-coil containing protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1604561	D	RGD:8554872	20200410	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604561	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604561	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302949	Tanc1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302950	Rnf166	ring finger protein 166	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302950	Rnf166	ring finger protein 166	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1302950	Rnf166	ring finger protein 166	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302952	Cops4	COP9 signalosome subunit 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302952	Cops4	COP9 signalosome subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302952	Cops4	COP9 signalosome subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302952	Cops4	COP9 signalosome subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302952	Cops4	COP9 signalosome subunit 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1302952	Cops4	COP9 signalosome subunit 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1302952	Cops4	COP9 signalosome subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345570	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1302952	Cops4	COP9 signalosome subunit 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1302952	Cops4	COP9 signalosome subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302952	Cops4	COP9 signalosome subunit 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1302952	Cops4	COP9 signalosome subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302952	Cops4	COP9 signalosome subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302954	Spata21	spermatogenesis associated 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302954	Spata21	spermatogenesis associated 21	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1602628	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1302954	Spata21	spermatogenesis associated 21	gene	DOID:1324	lung cancer		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302954	Spata21	spermatogenesis associated 21	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1302954	Spata21	spermatogenesis associated 21	gene	DOID:3275	thymoma		ISO	RGD:1602628	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1302954	Spata21	spermatogenesis associated 21	gene	DOID:4362	cervical cancer		ISO	RGD:1602628	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302954	Spata21	spermatogenesis associated 21	gene	DOID:5041	esophageal cancer		ISO	RGD:1602628	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1302954	Spata21	spermatogenesis associated 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602628	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302954	Spata21	spermatogenesis associated 21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1302954	Spata21	spermatogenesis associated 21	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1602628	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1302954	Spata21	spermatogenesis associated 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602628	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302954	Spata21	spermatogenesis associated 21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1302955	Ddah2	DDAH family member 2, ADMA-independent	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302955	Ddah2	DDAH family member 2, ADMA-independent	gene	DOID:10591	pre-eclampsia		ISO	RGD:1346413	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22285683
1302955	Ddah2	DDAH family member 2, ADMA-independent	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302955	Ddah2	DDAH family member 2, ADMA-independent	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1302955	Ddah2	DDAH family member 2, ADMA-independent	gene	DOID:3393	coronary artery disease		ISO	RGD:1346413	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17267746
1302955	Ddah2	DDAH family member 2, ADMA-independent	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302955	Ddah2	DDAH family member 2, ADMA-independent	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1302955	Ddah2	DDAH family member 2, ADMA-independent	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302955	Ddah2	DDAH family member 2, ADMA-independent	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302956	Spink2	serine peptidase inhibitor, Kazal type 2	gene	DOID:0111930	spermatogenic failure 29		ISO	RGD:1349585	D	RGD:7240710	20190315	OMIM			
1302956	Spink2	serine peptidase inhibitor, Kazal type 2	gene	DOID:0111930	spermatogenic failure 29		ISO	RGD:1349585	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 29	PMID:25741868
1302956	Spink2	serine peptidase inhibitor, Kazal type 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1302957	Kcne4	potassium voltage-gated channel subfamily E regulatory subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302957	Kcne4	potassium voltage-gated channel subfamily E regulatory subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1346142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302957	Kcne4	potassium voltage-gated channel subfamily E regulatory subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1346142	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1302957	Kcne4	potassium voltage-gated channel subfamily E regulatory subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302957	Kcne4	potassium voltage-gated channel subfamily E regulatory subunit 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1302959	Crip2	cysteine-rich protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302959	Crip2	cysteine-rich protein 2	gene	DOID:0080600	COVID-19		ISO	RGD:1351980	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1302959	Crip2	cysteine-rich protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1351980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302959	Crip2	cysteine-rich protein 2	gene	DOID:3275	thymoma		ISO	RGD:1351980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1302959	Crip2	cysteine-rich protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302959	Crip2	cysteine-rich protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351980	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1302959	Crip2	cysteine-rich protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302959	Crip2	cysteine-rich protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1302959	Crip2	cysteine-rich protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302959	Crip2	cysteine-rich protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302962	Mug2	murinoglobulin 2	gene	DOID:0080600	COVID-19		ISO	RGD:736140	D	RGD:9068941	20230330	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1302962	Mug2	murinoglobulin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736140	D	RGD:11554173	20230329	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1302962	Mug2	murinoglobulin 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736140	D	RGD:11554173	20230329	CTD		CTD Direct Evidence: marker/mechanism	PMID:16099942
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:10534	stomach cancer		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:1059	intellectual disability		ISO	RGD:1344132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:37664979
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:1115	sarcoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:1324	lung cancer		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:1826	epilepsy		ISO	RGD:1344132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:37664979
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:1909	melanoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:2394	ovarian cancer		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:3275	thymoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:630	genetic disease		ISO	RGD:1344132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:36413997|PMID:37664979
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorders	PMID:37664979
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:9004696	Neuromuscular Oculoauditory Syndrome		ISO	RGD:1344132	D	RGD:7240710	20200226	OMIM			
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:9004696	Neuromuscular Oculoauditory Syndrome		ISO	RGD:1344132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DHX16-related condition | ClinVar Annotator: match by term: Neuromuscular disease and ocular or auditory anomalies with or without seizures | ClinVar Annotator: match by term: neuromuscular disease and ocular or auditory anomalies with or without seizures	PMID:25741868|PMID:28492532|PMID:37664979
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302963	Dhx16	DEAH-box helicase 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1344132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1302965	Pon3	paraoxonase 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344009	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1302965	Pon3	paraoxonase 3	gene	DOID:10608	celiac disease		ISO	RGD:1344009	D	RGD:5509924|PMID:17664137	20111111	RGD		mRNA:decreased expression:duodenum (human)	
1302965	Pon3	paraoxonase 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1344009	D	RGD:5509926|PMID:16319130	20111111	RGD		DNA:polymorphisms:multiple SNPs (human)	
1302965	Pon3	paraoxonase 3	gene	DOID:1936	atherosclerosis		ISO	RGD:1344009	D	RGD:5509927|PMID:20182519	20111111	RGD		mRNA:altered expression::human transgene expression in ApoE-KO mice was protective	
1302965	Pon3	paraoxonase 3	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1344009	D	RGD:5509925|PMID:16822964	20111111	RGD		DNA:SNP:intron:rs10487132, association with LD block containing both PON3 and PON2 (human)	
1302965	Pon3	paraoxonase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302965	Pon3	paraoxonase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344009	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1302965	Pon3	paraoxonase 3	gene	DOID:8577	ulcerative colitis		ISO	RGD:1344009	D	RGD:5509924|PMID:17664137	20111111	RGD		mRNA:decreased expression:colon (human)	
1302965	Pon3	paraoxonase 3	gene	DOID:8778	Crohn's disease		ISO	RGD:1344009	D	RGD:5509924|PMID:17664137	20111111	RGD		mRNA:decreased expression:terminal ileum (human)	
1302966	Nrm	nurim	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302966	Nrm	nurim	gene	DOID:0050741	alcohol dependence		ISO	RGD:1352240	D	RGD:405650603|PMID:27151647	20240429	RGD		associated with other drug dependencies; DNA:SNPs:CDS:intron (rs2269705)	
1302968	Krt77	keratin 77	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302968	Krt77	keratin 77	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302968	Krt77	keratin 77	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1302969	Phf23	PHD finger protein 23	gene	DOID:10534	stomach cancer		ISO	RGD:1601853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302969	Phf23	PHD finger protein 23	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302969	Phf23	PHD finger protein 23	gene	DOID:1115	sarcoma		ISO	RGD:1601853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302969	Phf23	PHD finger protein 23	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1302969	Phf23	PHD finger protein 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302969	Phf23	PHD finger protein 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302970	Prss46	protease, serine, 46	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1552176	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1302971	Adm2	adrenomedullin 2	gene	DOID:178	vascular disease		ISO	RGD:1348112	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:19910445
1302971	Adm2	adrenomedullin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302971	Adm2	adrenomedullin 2	gene	DOID:864	phlebitis		ISO	RGD:1348112	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: therapeutic	PMID:34434487
1302971	Adm2	adrenomedullin 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1348112	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16987513
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1605700	D	RGD:9589169|PMID:24652950	20141110	RGD			
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:0050696	fetal alcohol spectrum disorder		IEP		D	RGD:11344152|PMID:26509893	20240130	RGD		mRNA:increased expression:pituitary gland (rat)	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:0060321	umbilical hernia		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868|PMID:39674972
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:39674972
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:1605700	D	RGD:9590069|PMID:24658378	20141112	RGD			
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:302	substance abuse		ISO	RGD:1550173	D	RGD:617242905|PMID:30321610	20250724	RGD		mRNA:increased expression:brain (mouse)	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1605700	D	RGD:9590071|PMID:24805087	20141112	RGD		protein:increased expression:esophagus mucosa:	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1605700	D	RGD:9589170|PMID:20940408	20141110	RGD			
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1605700	D	RGD:11554173	20221213	CTD		CTD Direct Evidence: marker/mechanism	PMID:25115793
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605700	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605700	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:5223	infertility		ISO	RGD:1605700	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25975992
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1605700	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605700	D	RGD:9590069|PMID:24658378	20141112	RGD		associated with Melanoma;	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605700	D	RGD:9590071|PMID:24805087	20141112	RGD		associated with Esophageal Squamous Cell Carcinoma;	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1605700	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20940408|PMID:25115793
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1605700	D	RGD:9589170|PMID:20940408	20141110	RGD		associated with lung neoplasms;	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:1605700	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29391238
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9004379	Vesicular Stomatitis		ISO	RGD:1605700	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: therapeutic	PMID:26418342
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1605700	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20940408
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1605700	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:20056891
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9006302	Binge Drinking		IEP		D	RGD:597538603|PMID:37402853	20250131	RGD		mRNA:increased expression:basal forebrain cholinergic neurons	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1605700	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29391238
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9008443	Colorectal Neoplasms	susceptibility	ISO	RGD:1605700	D	RGD:9589147|PMID:19843671	20141110	RGD		DNA:SNP: :rs535586(human)	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605700	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:24532712
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1550173	D	RGD:9589168|PMID:24532712	20141110	RGD			
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:986	alopecia areata		ISO	RGD:1605700	D	RGD:9587460|PMID:21936853	20141112	RGD		mRNA:increased expression:mononuclear cell:	
1302972	Ehmt2	euchromatic histone lysine methyltransferase 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1605700	D	RGD:11554173	20210601	CTD		CTD Direct Evidence: marker/mechanism	PMID:32889036
1302973	Rxfp1	relaxin family peptide receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1351067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302973	Rxfp1	relaxin family peptide receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1351067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302973	Rxfp1	relaxin family peptide receptor 1	gene	DOID:289	endometriosis		ISO	RGD:1351067	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
1302973	Rxfp1	relaxin family peptide receptor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1302973	Rxfp1	relaxin family peptide receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302974	Tcf19	transcription factor 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302974	Tcf19	transcription factor 19	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1345711	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1302974	Tcf19	transcription factor 19	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1345711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1302974	Tcf19	transcription factor 19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1302974	Tcf19	transcription factor 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345711	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1302974	Tcf19	transcription factor 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1302974	Tcf19	transcription factor 19	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1345711	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
1302974	Tcf19	transcription factor 19	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1345711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1302976	Rpl18a	ribosomal protein L18A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302976	Rpl18a	ribosomal protein L18A	gene	DOID:1115	sarcoma		ISO	RGD:1345925	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302976	Rpl18a	ribosomal protein L18A	gene	DOID:1324	lung cancer		ISO	RGD:1345925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302976	Rpl18a	ribosomal protein L18A	gene	DOID:1574	alcohol use disorder		IEP		D	RGD:11038708|PMID:11244494	20160222	RGD		mRNA:decreased expression:parietal cortex	
1302976	Rpl18a	ribosomal protein L18A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302976	Rpl18a	ribosomal protein L18A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1345925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1302976	Rpl18a	ribosomal protein L18A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302976	Rpl18a	ribosomal protein L18A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1302978	Ggnbp2	gametogenetin binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302978	Ggnbp2	gametogenetin binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302978	Ggnbp2	gametogenetin binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302978	Ggnbp2	gametogenetin binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1343556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302978	Ggnbp2	gametogenetin binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1343556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302978	Ggnbp2	gametogenetin binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1343556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1302978	Ggnbp2	gametogenetin binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1343556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1302978	Ggnbp2	gametogenetin binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302978	Ggnbp2	gametogenetin binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1302978	Ggnbp2	gametogenetin binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302978	Ggnbp2	gametogenetin binding protein 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1343556	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1302978	Ggnbp2	gametogenetin binding protein 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1343556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1302979	Habp2	hyaluronan binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302979	Habp2	hyaluronan binding protein 2	gene	DOID:0111907	thrombophilia due to thrombin defect	susceptibility	ISO	RGD:1350340	D	RGD:7240710	20260812	OMIM			
1302979	Habp2	hyaluronan binding protein 2	gene	DOID:2452	thrombophilia		ISO	RGD:1350340	D	RGD:11554173	20200805	CTD		CTD Direct Evidence: marker/mechanism	
1302979	Habp2	hyaluronan binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1350340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1302979	Habp2	hyaluronan binding protein 2	gene	DOID:3770	pulmonary fibrosis		IEP		D	RGD:11353855|PMID:20818495	20160725	RGD			
1302979	Habp2	hyaluronan binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1302979	Habp2	hyaluronan binding protein 2	gene	DOID:9000965	Neoplasm Metastasis	treatment	IMP		D	RGD:11353856|PMID:22715430	20160725	RGD		associated with Thyroid Neoplasms	
1302979	Habp2	hyaluronan binding protein 2	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1350340	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1302979	Habp2	hyaluronan binding protein 2	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:1350340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to	PMID:25741868
1302979	Habp2	hyaluronan binding protein 2	gene	DOID:9003505	Venous Thromboembolism	disease_progression	ISO	RGD:1350340	D	RGD:11353820|PMID:22421107	20160722	RGD		DNA:SNP: :p.G534E (rs7080536) (human)	
1302979	Habp2	hyaluronan binding protein 2	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1350340	D	RGD:11353820|PMID:22421107	20160722	RGD		DNA:SNP: :p.G534E (rs7080536) (human)	
1302979	Habp2	hyaluronan binding protein 2	gene	DOID:9004547	Thyroid Neoplasms		IMP		D	RGD:11353856|PMID:22715430	20160725	RGD			
1302979	Habp2	hyaluronan binding protein 2	gene	DOID:9007597	Thyroid Cancer, Nonmedullary, 5		ISO	RGD:1350340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HABP2-related condition | ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 5	PMID:25741868
1302979	Habp2	hyaluronan binding protein 2	gene	DOID:9007597	Thyroid Cancer, Nonmedullary, 5	susceptibility	ISO	RGD:1350340	D	RGD:7240710	20260812	OMIM			
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:0060058	lymphoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:1596	depressive disorder		ISO	RGD:1347436	D	RGD:401854249|PMID:35642741	20231106	RGD		DNA:SNP:CDS:multiple (human)	
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:1909	melanoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:3275	thymoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:9002809	Congenital Heart Defects, Multiple Types, 4		ISO	RGD:1347436	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4	PMID:25741868
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:9003760	Myalgia		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1302980	Xirp2	xin actin-binding repeat containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1302981	Zfp57	zinc finger protein 57	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302981	Zfp57	zinc finger protein 57	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:18414213|PMID:25741868|PMID:28492532
1302981	Zfp57	zinc finger protein 57	gene	DOID:0060058	lymphoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1302981	Zfp57	zinc finger protein 57	gene	DOID:0060334	transient neonatal diabetes mellitus		ISO	RGD:1344217	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus	PMID:18414213|PMID:18622393|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016
1302981	Zfp57	zinc finger protein 57	gene	DOID:0061173	transient neonatal diabetes mellitus 1		ISO	RGD:1344217	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1302981	Zfp57	zinc finger protein 57	gene	DOID:0061173	transient neonatal diabetes mellitus 1		ISO	RGD:1344217	D	RGD:7240710	20130731	OMIM			
1302981	Zfp57	zinc finger protein 57	gene	DOID:0061173	transient neonatal diabetes mellitus 1		ISO	RGD:1344217	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 | ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 1 | ClinVar Annotator: match by term: ZFP57-related condition	PMID:17576681|PMID:18414213|PMID:18622393|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:9536098
1302981	Zfp57	zinc finger protein 57	gene	DOID:1115	sarcoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:18414213|PMID:25741868|PMID:28492532
1302981	Zfp57	zinc finger protein 57	gene	DOID:2394	ovarian cancer		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1302981	Zfp57	zinc finger protein 57	gene	DOID:3275	thymoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1302981	Zfp57	zinc finger protein 57	gene	DOID:4362	cervical cancer		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302981	Zfp57	zinc finger protein 57	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1302981	Zfp57	zinc finger protein 57	gene	DOID:5041	esophageal cancer		ISO	RGD:1344217	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Esophageal cancer	
1302981	Zfp57	zinc finger protein 57	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302981	Zfp57	zinc finger protein 57	gene	DOID:630	genetic disease		ISO	RGD:1344217	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1302981	Zfp57	zinc finger protein 57	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1302981	Zfp57	zinc finger protein 57	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1302981	Zfp57	zinc finger protein 57	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302981	Zfp57	zinc finger protein 57	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1302981	Zfp57	zinc finger protein 57	gene	DOID:9351	diabetes mellitus		ISO	RGD:1344217	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:18622393
1302981	Zfp57	zinc finger protein 57	gene	DOID:9351	diabetes mellitus		ISO	RGD:1344217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:18414213|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016
1302982	Pla2g15	phospholipase A2, group XV	gene	DOID:0080600	COVID-19		ISO	RGD:1344350	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1302982	Pla2g15	phospholipase A2, group XV	gene	DOID:10534	stomach cancer		ISO	RGD:1344350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302982	Pla2g15	phospholipase A2, group XV	gene	DOID:1909	melanoma		ISO	RGD:1344350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1302982	Pla2g15	phospholipase A2, group XV	gene	DOID:2349	arteriosclerosis		ISO	RGD:1552207	D	RGD:1582126|PMID:15781238	20061101	RGD			
1302982	Pla2g15	phospholipase A2, group XV	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1302982	Pla2g15	phospholipase A2, group XV	gene	DOID:4362	cervical cancer		ISO	RGD:1344350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302982	Pla2g15	phospholipase A2, group XV	gene	DOID:5041	esophageal cancer		ISO	RGD:1344350	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1302982	Pla2g15	phospholipase A2, group XV	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302982	Pla2g15	phospholipase A2, group XV	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302982	Pla2g15	phospholipase A2, group XV	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1302983	Osmr	oncostatin M receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302983	Osmr	oncostatin M receptor	gene	DOID:0050639	primary cutaneous amyloidosis		ISO	RGD:1352311	D	RGD:11554173	20190402	CTD		CTD Direct Evidence: marker/mechanism	
1302983	Osmr	oncostatin M receptor	gene	DOID:0080600	COVID-19		ISO	RGD:1352311	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1302983	Osmr	oncostatin M receptor	gene	DOID:0080930	primary localized cutaneous amyloidosis 1		ISO	RGD:1352311	D	RGD:7240710	20190327	OMIM			
1302983	Osmr	oncostatin M receptor	gene	DOID:0080930	primary localized cutaneous amyloidosis 1		ISO	RGD:1352311	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 | ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 1 | ClinVar Annotator: match by term: OSMR-related condition	PMID:19690585|PMID:25741868|PMID:25792357|PMID:28492532|PMID:29419851|PMID:30734345|PMID:30740762|PMID:31180159
1302983	Osmr	oncostatin M receptor	gene	DOID:10534	stomach cancer		ISO	RGD:1352311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302983	Osmr	oncostatin M receptor	gene	DOID:10754	otitis media		ISO	RGD:1352311	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
1302983	Osmr	oncostatin M receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302983	Osmr	oncostatin M receptor	gene	DOID:1115	sarcoma		ISO	RGD:1352311	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302983	Osmr	oncostatin M receptor	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:1352311	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Allergic conjunctivitis	PMID:25741868
1302983	Osmr	oncostatin M receptor	gene	DOID:1324	lung cancer		ISO	RGD:1352311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302983	Osmr	oncostatin M receptor	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1352311	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
1302983	Osmr	oncostatin M receptor	gene	DOID:1909	melanoma		ISO	RGD:1352311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1302983	Osmr	oncostatin M receptor	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1352311	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868
1302983	Osmr	oncostatin M receptor	gene	DOID:3044	food allergy		ISO	RGD:1352311	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Food allergy	PMID:25741868
1302983	Osmr	oncostatin M receptor	gene	DOID:3275	thymoma		ISO	RGD:1352311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1302983	Osmr	oncostatin M receptor	gene	DOID:3310	atopic dermatitis		ISO	RGD:1352311	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868
1302983	Osmr	oncostatin M receptor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1302983	Osmr	oncostatin M receptor	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1352311	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427
1302983	Osmr	oncostatin M receptor	gene	DOID:4031	eosinophilic gastroenteritis		ISO	RGD:1352311	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Eosinophilic gastroenteritis	PMID:25741868
1302983	Osmr	oncostatin M receptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1302983	Osmr	oncostatin M receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302983	Osmr	oncostatin M receptor	gene	DOID:630	genetic disease		ISO	RGD:1352311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1302983	Osmr	oncostatin M receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1302983	Osmr	oncostatin M receptor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352311	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1302983	Osmr	oncostatin M receptor	gene	DOID:9004150	Lymphadenopathy		ISO	RGD:1352311	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphadenopathy	PMID:25741868
1302984	Lmo7	LIM domain 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302984	Lmo7	LIM domain 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302984	Lmo7	LIM domain 7	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1351855	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex	PMID:25741868
1302984	Lmo7	LIM domain 7	gene	DOID:10534	stomach cancer		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302984	Lmo7	LIM domain 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302984	Lmo7	LIM domain 7	gene	DOID:1115	sarcoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302984	Lmo7	LIM domain 7	gene	DOID:1324	lung cancer		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302984	Lmo7	LIM domain 7	gene	DOID:1909	melanoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1302984	Lmo7	LIM domain 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1302984	Lmo7	LIM domain 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1302984	Lmo7	LIM domain 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1302984	Lmo7	LIM domain 7	gene	DOID:4362	cervical cancer		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302984	Lmo7	LIM domain 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1302984	Lmo7	LIM domain 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1302984	Lmo7	LIM domain 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1351855	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1302984	Lmo7	LIM domain 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302984	Lmo7	LIM domain 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302984	Lmo7	LIM domain 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302984	Lmo7	LIM domain 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1302985	Rgl2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302985	Rgl2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302985	Rgl2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302985	Rgl2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:1115	sarcoma		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302985	Rgl2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:1324	lung cancer		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302985	Rgl2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:1909	melanoma		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1302985	Rgl2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1302985	Rgl2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302985	Rgl2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1302985	Rgl2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302985	Rgl2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1302986	Lcn6	lipocalin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302986	Lcn6	lipocalin 6	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1349815	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1302986	Lcn6	lipocalin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1349815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302986	Lcn6	lipocalin 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302986	Lcn6	lipocalin 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1302987	Ano7	anoctamin 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302987	Ano7	anoctamin 7	gene	DOID:10534	stomach cancer		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302987	Ano7	anoctamin 7	gene	DOID:1324	lung cancer		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302987	Ano7	anoctamin 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1302987	Ano7	anoctamin 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1302987	Ano7	anoctamin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302987	Ano7	anoctamin 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1302987	Ano7	anoctamin 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348339	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:22366787|PMID:25741868
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348339	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0060290	Ohdo syndrome, SBBYS variant		ISO	RGD:1348339	D	RGD:8554872	20210413	ClinVar		ClinVar Annotator: match by term: Blepharophimosis intellectual disability syndrome	PMID:32694869
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1348339	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy	PMID:25741868
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1348339	D	RGD:8554872	20181009	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 1	PMID:22366787|PMID:22426308|PMID:22426309|PMID:25724810|PMID:25741868
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1348339	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adenoid cystic carcinoma	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0081441	Nicolaides-Baraitser syndrome		ISO	RGD:1348339	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22366787
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0081441	Nicolaides-Baraitser syndrome		ISO	RGD:1348339	D	RGD:7240710	20141015	OMIM			
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0081441	Nicolaides-Baraitser syndrome		ISO	RGD:1348339	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability-sparse hair-brachydactyly syndrome | ClinVar Annotator: match by term: NICOLAIDES-BARAITSER SYNDROME | ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy | ClinVar Annotator: match by term: SMARCA2-related condition	PMID:17576681|PMID:18414213|PMID:19606471|PMID:22366787|PMID:22426308|PMID:22426309|PMID:23752187|PMID:23906836|PMID:23929686|PMID:24090879|PMID:25169058|PMID:25326637|PMID:25724810|PMID:25741868|PMID:27099726|PMID:27399259|PMID:27479843|PMID:27665729|PMID:28333917|PMID:28424519|PMID:28492532|PMID:28824374|PMID:28948053|PMID:30459321|PMID:31031587|PMID:31288860|PMID:31785789|PMID:32657847|PMID:32694869|PMID:32901917|PMID:34906496|PMID:35887114|PMID:37500730|PMID:8287185|PMID:9536098
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0081442	blepharophimosis-impaired intellectual development syndrome		ISO	RGD:1348339	D	RGD:7240710	20230215	OMIM			
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0081442	blepharophimosis-impaired intellectual development syndrome		ISO	RGD:1348339	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Blepharophimosis-impaired intellectual development syndrome	PMID:12419247|PMID:1350857|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28424519|PMID:28492532|PMID:28628100|PMID:32694869|PMID:9175470
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1348339	D	RGD:9068941	20200609	RGD			PMID:17075831|REF_RGD_ID:2302527
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:10348	blepharophimosis		ISO	RGD:1348339	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:25741868
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: Severe intellectual disability	PMID:22366787|PMID:25169058|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28424519|PMID:28492532|PMID:28628100|PMID:31785789|PMID:32694869
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:10907	microcephaly		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22366787|PMID:25741868|PMID:28492532|PMID:31785789
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1115	sarcoma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:22366787|PMID:25741868|PMID:28492532
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:12849	autistic disorder		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1324	lung cancer		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1348339	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1826	epilepsy		ISO	RGD:1348339	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22366787|PMID:25169058|PMID:25741868|PMID:28492532|PMID:31288860|PMID:32694869
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1909	melanoma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1348339	D	RGD:11554173	20221108	CTD		CTD Direct Evidence: marker/mechanism	PMID:22426308
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1348339	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability	PMID:18414213|PMID:28512736
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:22366787|PMID:25741868|PMID:28492532
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:2841	asthma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25533962|PMID:25741868|PMID:28628100|PMID:32694869
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348339	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:630	genetic disease		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28263302|PMID:28424519|PMID:28492532|PMID:28628100|PMID:29549119|PMID:31813803|PMID:32694869
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:674	cleft palate		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:22366787|PMID:25741868|PMID:28492532
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25533962|PMID:25741868|PMID:28628100|PMID:32694869
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:1348339	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	PMID:25741868
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348339	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9004507	Hirsutism		ISO	RGD:1348339	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:22366787|PMID:25741868
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9004866	Ataxia		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:22366787|PMID:22426308|PMID:22426309|PMID:25724810|PMID:25741868
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	PMID:16738128|PMID:25169058
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9005736	Pallor		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pallor	PMID:22366787|PMID:25741868|PMID:28492532
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22366787|PMID:25741868|PMID:28492532
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22366787|PMID:22426308|PMID:22426309|PMID:22822383|PMID:25724810|PMID:25741868|PMID:28492532|PMID:30952489|PMID:37500730
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1348339	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1302988	Smarca2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	gene	DOID:93	language disorder		ISO	RGD:1348339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:22366787|PMID:25741868|PMID:28492532
1302990	Lag3	lymphocyte activating 3	gene	DOID:1909	melanoma		ISO	RGD:1344873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1302990	Lag3	lymphocyte activating 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302990	Lag3	lymphocyte activating 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:0050562	West syndrome		ISO	RGD:1348300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1348300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1348300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:1059	intellectual disability		ISO	RGD:1348300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1348300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1348300	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:5723	optic atrophy		ISO	RGD:1348300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348300	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1348300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:9006140	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies		ISO	RGD:1348300	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:9006238	Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy		ISO	RGD:1348300	D	RGD:7240710	20200318	OMIM			
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:9006238	Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy		ISO	RGD:1348300	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348300	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1348300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138
1302991	Trappc4	trafficking protein particle complex subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:1909	melanoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1344859	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:29379198
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:670	amphetamine abuse		ISO	RGD:1344859	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344859	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743467
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1302992	Cchcr1	coiled-coil alpha-helical rod protein 1	gene	DOID:986	alopecia areata		ISS	RGD:1617323	D	RGD:13592920	20211104	MouseDO		OMIM:104000 | OMIM:610753	
1302993	Ly96	lymphocyte antigen 96	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1302993	Ly96	lymphocyte antigen 96	gene	DOID:0060058	lymphoma		ISO	RGD:1349135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1302993	Ly96	lymphocyte antigen 96	gene	DOID:13580	cholestasis		ISO	RGD:1349135	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
1302993	Ly96	lymphocyte antigen 96	gene	DOID:1909	melanoma		ISO	RGD:1349135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1302993	Ly96	lymphocyte antigen 96	gene	DOID:305	carcinoma		ISO	RGD:1349135	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22180778
1302993	Ly96	lymphocyte antigen 96	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302993	Ly96	lymphocyte antigen 96	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1302993	Ly96	lymphocyte antigen 96	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1349135	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17379860
1302993	Ly96	lymphocyte antigen 96	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1349135	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22180778
1302993	Ly96	lymphocyte antigen 96	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1349135	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1302993	Ly96	lymphocyte antigen 96	gene	DOID:9003321	Bacterial Keratitis		ISO	RGD:1623303	D	RGD:8662876|PMID:23033384	20140626	RGD		associated with Serratia Infections;	
1302993	Ly96	lymphocyte antigen 96	gene	DOID:9004610	Acute Lung Injury	treatment	IDA		D	RGD:632522751|PMID:31693211	20260219	RGD			
1302993	Ly96	lymphocyte antigen 96	gene	DOID:9004610	Acute Lung Injury	treatment	IDA		D	RGD:632522752|PMID:27118147	20260219	RGD		associated with LPS	
1302993	Ly96	lymphocyte antigen 96	gene	DOID:9004610	Acute Lung Injury	treatment	IMP		D	RGD:597538524|PMID:23428646	20260210	RGD		associated with orthotopic autologous liver transplantation	
1302993	Ly96	lymphocyte antigen 96	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1349135	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22180778
1302993	Ly96	lymphocyte antigen 96	gene	DOID:9008622	Adrenal Insufficiency		IEP		D	RGD:632527144|PMID:22081818	20260223	RGD		associated with lung injury; mRNA:decreased expression:lung	
1302994	Pa2g4	proliferation-associated 2G4	gene	DOID:10534	stomach cancer		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302994	Pa2g4	proliferation-associated 2G4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302994	Pa2g4	proliferation-associated 2G4	gene	DOID:4362	cervical cancer		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302994	Pa2g4	proliferation-associated 2G4	gene	DOID:5041	esophageal cancer		ISO	RGD:1354307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1302994	Pa2g4	proliferation-associated 2G4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302994	Pa2g4	proliferation-associated 2G4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1302994	Pa2g4	proliferation-associated 2G4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1302994	Pa2g4	proliferation-associated 2G4	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1354307	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1302994	Pa2g4	proliferation-associated 2G4	gene	DOID:9000918	Disease Progression		ISO	RGD:1354307	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1302994	Pa2g4	proliferation-associated 2G4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1302996	C20h6orf136	similar to human chromosome 6 open reading frame 136	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1302996	C20h6orf136	similar to human chromosome 6 open reading frame 136	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1302998	Mrps18b	mitochondrial ribosomal protein S18B	gene	DOID:10534	stomach cancer		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1302998	Mrps18b	mitochondrial ribosomal protein S18B	gene	DOID:1324	lung cancer		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1302998	Mrps18b	mitochondrial ribosomal protein S18B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1302998	Mrps18b	mitochondrial ribosomal protein S18B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1302998	Mrps18b	mitochondrial ribosomal protein S18B	gene	DOID:4362	cervical cancer		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1302998	Mrps18b	mitochondrial ribosomal protein S18B	gene	DOID:5041	esophageal cancer		ISO	RGD:1349132	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1302998	Mrps18b	mitochondrial ribosomal protein S18B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1302998	Mrps18b	mitochondrial ribosomal protein S18B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1302998	Mrps18b	mitochondrial ribosomal protein S18B	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1349132	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1302998	Mrps18b	mitochondrial ribosomal protein S18B	gene	DOID:9000918	Disease Progression		ISO	RGD:1349132	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1302998	Mrps18b	mitochondrial ribosomal protein S18B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1302998	Mrps18b	mitochondrial ribosomal protein S18B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303000	Cdh15	cadherin 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303000	Cdh15	cadherin 15	gene	DOID:0060573	von Willebrand's disease 1		ISO	RGD:1353127	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: von Willebrand disease type 1	PMID:25741868
1303000	Cdh15	cadherin 15	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:1353127	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 1	PMID:25741868
1303000	Cdh15	cadherin 15	gene	DOID:0070033	autosomal dominant intellectual developmental disorder 3		ISO	RGD:1353127	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303000	Cdh15	cadherin 15	gene	DOID:0070033	autosomal dominant intellectual developmental disorder 3		ISO	RGD:1353127	D	RGD:7240710	20130221	OMIM			
1303000	Cdh15	cadherin 15	gene	DOID:0070033	autosomal dominant intellectual developmental disorder 3		ISO	RGD:1353127	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: CDH15-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 3	PMID:18414213|PMID:19012874|PMID:25741868|PMID:28492532
1303000	Cdh15	cadherin 15	gene	DOID:1059	intellectual disability		ISO	RGD:1353127	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:25741868|PMID:28492532
1303000	Cdh15	cadherin 15	gene	DOID:1115	sarcoma		ISO	RGD:1353127	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303000	Cdh15	cadherin 15	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1353127	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1303000	Cdh15	cadherin 15	gene	DOID:1826	epilepsy		ISO	RGD:1353127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1303000	Cdh15	cadherin 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1353127	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303000	Cdh15	cadherin 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303000	Cdh15	cadherin 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303001	Pofut1	protein O-fucosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303001	Pofut1	protein O-fucosyltransferase 1	gene	DOID:0060256	Dowling-Degos disease		ISO	RGD:1348314	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1303001	Pofut1	protein O-fucosyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303001	Pofut1	protein O-fucosyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303001	Pofut1	protein O-fucosyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1348314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1303001	Pofut1	protein O-fucosyltransferase 1	gene	DOID:9006393	Dowling-Degos Disease 2		ISO	RGD:1348314	D	RGD:7240710	20140911	OMIM			
1303001	Pofut1	protein O-fucosyltransferase 1	gene	DOID:9006393	Dowling-Degos Disease 2		ISO	RGD:1348314	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DOWLING-DEGOS DISEASE 2 | ClinVar Annotator: match by term: Dowling-Degos disease 2 | ClinVar Annotator: match by term: POFUT1-related condition	PMID:25157627|PMID:25229252|PMID:25741868|PMID:28334865|PMID:28492532|PMID:31566882
1303001	Pofut1	protein O-fucosyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303001	Pofut1	protein O-fucosyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303002	Cops3	COP9 signalosome subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303002	Cops3	COP9 signalosome subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303002	Cops3	COP9 signalosome subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303002	Cops3	COP9 signalosome subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303002	Cops3	COP9 signalosome subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303002	Cops3	COP9 signalosome subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303002	Cops3	COP9 signalosome subunit 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303002	Cops3	COP9 signalosome subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350505	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303002	Cops3	COP9 signalosome subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303002	Cops3	COP9 signalosome subunit 3	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1350505	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1303002	Cops3	COP9 signalosome subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303002	Cops3	COP9 signalosome subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303003	Gatd3a	glutamine amidotransferase class 1 domain containing 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303003	Gatd3a	glutamine amidotransferase class 1 domain containing 3A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303003	Gatd3a	glutamine amidotransferase class 1 domain containing 3A	gene	DOID:1115	sarcoma		ISO	RGD:1343023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303003	Gatd3a	glutamine amidotransferase class 1 domain containing 3A	gene	DOID:12849	autistic disorder		ISO	RGD:14351503	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autism, susceptibility to, 20	PMID:21681106|PMID:30208311
1303003	Gatd3a	glutamine amidotransferase class 1 domain containing 3A	gene	DOID:1324	lung cancer		ISO	RGD:1343023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303003	Gatd3a	glutamine amidotransferase class 1 domain containing 3A	gene	DOID:3275	thymoma		ISO	RGD:1343023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303003	Gatd3a	glutamine amidotransferase class 1 domain containing 3A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303003	Gatd3a	glutamine amidotransferase class 1 domain containing 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:3275	thymoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349981	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349981	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349981	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303004	Tacc2	transforming, acidic coiled-coil containing protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303006	Pfdn6	prefoldin subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303006	Pfdn6	prefoldin subunit 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303007	Rpl35	ribosomal protein L35	gene	DOID:0111886	Diamond-Blackfan anemia 19		ISO	RGD:1353068	D	RGD:7240710	20190315	OMIM			
1303007	Rpl35	ribosomal protein L35	gene	DOID:0111886	Diamond-Blackfan anemia 19		ISO	RGD:1353068	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 | ClinVar Annotator: match by term: RPL35-related condition	PMID:28492532
1303007	Rpl35	ribosomal protein L35	gene	DOID:10534	stomach cancer		ISO	RGD:1353068	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303007	Rpl35	ribosomal protein L35	gene	DOID:3070	high grade glioma		ISO	RGD:1353068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303007	Rpl35	ribosomal protein L35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303007	Rpl35	ribosomal protein L35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303008	Msh5	mutS homolog 5	gene	DOID:0070573	spermatogenic failure 74		ISO	RGD:1343663	D	RGD:7240710	20220720	OMIM			
1303008	Msh5	mutS homolog 5	gene	DOID:0080870	primary ovarian insufficiency 13		ISO	RGD:1343663	D	RGD:7240710	20190315	OMIM			
1303008	Msh5	mutS homolog 5	gene	DOID:0080870	primary ovarian insufficiency 13		ISS	RGD:1552336	D	RGD:13592920	20230718	MouseDO		OMIM:617442	
1303008	Msh5	mutS homolog 5	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1343663	D	RGD:126848786|PMID:28093084	20210430	RGD		DNA:SNPs: :rs805304, rs707939 (human)	
1303008	Msh5	mutS homolog 5	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1343663	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
1303008	Msh5	mutS homolog 5	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1343663	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
1303008	Msh5	mutS homolog 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343663	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1303009	Slc4a5	solute carrier family 4 member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303009	Slc4a5	solute carrier family 4 member 5	gene	DOID:10534	stomach cancer		ISO	RGD:731047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303009	Slc4a5	solute carrier family 4 member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303009	Slc4a5	solute carrier family 4 member 5	gene	DOID:1324	lung cancer		ISO	RGD:731047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303009	Slc4a5	solute carrier family 4 member 5	gene	DOID:1909	melanoma		ISO	RGD:731047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303009	Slc4a5	solute carrier family 4 member 5	gene	DOID:3275	thymoma		ISO	RGD:731047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303009	Slc4a5	solute carrier family 4 member 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303009	Slc4a5	solute carrier family 4 member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:731047	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303009	Slc4a5	solute carrier family 4 member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303009	Slc4a5	solute carrier family 4 member 5	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:731047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1303009	Slc4a5	solute carrier family 4 member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303009	Slc4a5	solute carrier family 4 member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731047	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303014	Gpsm3	G-protein signaling modulator 3	gene	DOID:0060058	lymphoma		ISO	RGD:1343729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1303014	Gpsm3	G-protein signaling modulator 3	gene	DOID:1909	melanoma		ISO	RGD:1343729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303014	Gpsm3	G-protein signaling modulator 3	gene	DOID:4362	cervical cancer		ISO	RGD:1343729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303014	Gpsm3	G-protein signaling modulator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303015	Commd10	COMM domain containing 10	gene	DOID:0060058	lymphoma		ISO	RGD:1346630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1303015	Commd10	COMM domain containing 10	gene	DOID:1115	sarcoma		ISO	RGD:1346630	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303015	Commd10	COMM domain containing 10	gene	DOID:1909	melanoma		ISO	RGD:1346630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303015	Commd10	COMM domain containing 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303015	Commd10	COMM domain containing 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303015	Commd10	COMM domain containing 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303015	Commd10	COMM domain containing 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303015	Commd10	COMM domain containing 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303015	Commd10	COMM domain containing 10	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:0060306	Meier-Gorlin syndrome		ISO	RGD:1347363	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Meier-Gorlin syndrome	PMID:25741868|PMID:33654309
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:10534	stomach cancer		ISO	RGD:1347363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:1115	sarcoma		ISO	RGD:1347363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:12273	anisometropia		ISO	RGD:1347363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anisometropia	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:1324	lung cancer		ISO	RGD:1347363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1347363	D	RGD:2317697|PMID:15548371	20100416	RGD		mRNA, protein:increased expression:pancreatic duct	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1347363	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1347363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347363	D	RGD:15042853|PMID:27298561	20250609	RGD		associated with Chronic Hepatitis B;mRNA:increased expression:liver	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:7998	hyperthyroidism		IEP		D	RGD:2317698|PMID:17394799	20100416	RGD		protein:increased expression:endometrium, myometrium, placenta	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303018	Mcm7	minichromosome maintenance complex component 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303019	Rpl17	ribosomal protein L17	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1347180	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
1303020	Rnase6	ribonuclease A family member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303020	Rnase6	ribonuclease A family member 6	gene	DOID:3602	toxic encephalopathy		ISO	RGD:1353772	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
1303020	Rnase6	ribonuclease A family member 6	gene	DOID:409	liver disease		ISO	RGD:1353772	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
1303020	Rnase6	ribonuclease A family member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303022	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303022	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1343121	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:27023435|PMID:29107063|PMID:30319691|PMID:30320580
1303022	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:1115	sarcoma		ISO	RGD:1343121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303022	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:1909	melanoma		ISO	RGD:1343121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303022	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:3526	cerebral infarction		ISO	RGD:1343121	D	RGD:13464126|PMID:26171154	20171221	RGD		DNA:SNP: :rs2075650 (human)	
1303022	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1343121	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1303022	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:4362	cervical cancer		ISO	RGD:1343121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303022	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303022	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1343121	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:29670124
1303022	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:13463486|PMID:23255365	20171219	RGD		protein:decreased expression:retina	
1303022	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1343121	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1303022	Tomm40	translocase of outer mitochondrial membrane 40	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303023	Nudt2	nudix hydrolase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303023	Nudt2	nudix hydrolase 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1352613	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
1303023	Nudt2	nudix hydrolase 2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
1303023	Nudt2	nudix hydrolase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303023	Nudt2	nudix hydrolase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1352613	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
1303023	Nudt2	nudix hydrolase 2	gene	DOID:1143	exotropia		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
1303023	Nudt2	nudix hydrolase 2	gene	DOID:11720	distal myopathy		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
1303023	Nudt2	nudix hydrolase 2	gene	DOID:11782	astigmatism		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
1303023	Nudt2	nudix hydrolase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303023	Nudt2	nudix hydrolase 2	gene	DOID:9000579	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY		ISO	RGD:1352613	D	RGD:7240710	20220629	OMIM			
1303023	Nudt2	nudix hydrolase 2	gene	DOID:9000579	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY		ISO	RGD:1352613	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with or without peripheral neuropathy	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
1303023	Nudt2	nudix hydrolase 2	gene	DOID:9001031	Retrognathia		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
1303023	Nudt2	nudix hydrolase 2	gene	DOID:9001722	Dysarthria		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
1303023	Nudt2	nudix hydrolase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
1303023	Nudt2	nudix hydrolase 2	gene	DOID:9004866	Ataxia		ISO	RGD:1352613	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
1303023	Nudt2	nudix hydrolase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352613	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20533549
1303023	Nudt2	nudix hydrolase 2	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
1303024	Krt83	keratin 83	gene	DOID:0050472	monilethrix		ISO	RGD:1318342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monilethrix | ClinVar Annotator: match by term: monilethrix	PMID:25741868|PMID:28492532
1303024	Krt83	keratin 83	gene	DOID:0061145	monilethrix 1		ISO	RGD:1318342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MONILETHRIX 1 | ClinVar Annotator: match by term: Monilethrix-1	PMID:25741868|PMID:28492532
1303024	Krt83	keratin 83	gene	DOID:0061153	monilethrix 3		ISO	RGD:1318342	D	RGD:7240710	20250423	OMIM			
1303024	Krt83	keratin 83	gene	DOID:0061153	monilethrix 3		ISO	RGD:1318342	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: MONILETHRIX 3	PMID:15744029|PMID:25557232|PMID:25741868|PMID:28492532
1303024	Krt83	keratin 83	gene	DOID:0080251	erythrokeratodermia variabilis et progressiva 5		ISO	RGD:1318342	D	RGD:7240710	20221026	OMIM			
1303024	Krt83	keratin 83	gene	DOID:0080251	erythrokeratodermia variabilis et progressiva 5		ISO	RGD:1318342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 5 | ClinVar Annotator: match by term: KRT83-related condition	PMID:25741868|PMID:28492532
1303024	Krt83	keratin 83	gene	DOID:3275	thymoma		ISO	RGD:1318342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303024	Krt83	keratin 83	gene	DOID:4362	cervical cancer		ISO	RGD:1318342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:0060058	lymphoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:1324	lung cancer		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:1909	melanoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:2394	ovarian cancer		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:3275	thymoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1350670	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:6039	uveal melanoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:9004283	Transplant Rejection	susceptibility	ISO	RGD:1350670	D	RGD:14390152|PMID:25111513	20190221	RGD		DNA:haplotype: :rs11538264(human)	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1350670	D	RGD:2306963|PMID:15842729	20090513	RGD		DNA:polymorphism	
1303025	Prrc2a	proline-rich coiled-coil 2A	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:1350670	D	RGD:2306964|PMID:10987645	20090513	RGD		DNA:polymorphism	
1303027	C5ar2	complement C5a receptor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354173	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Esophageal cancer	
1303027	C5ar2	complement C5a receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303028	Chst7	carbohydrate sulfotransferase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303028	Chst7	carbohydrate sulfotransferase 7	gene	DOID:1324	lung cancer		ISO	RGD:1344494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303028	Chst7	carbohydrate sulfotransferase 7	gene	DOID:1909	melanoma		ISO	RGD:1344494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303028	Chst7	carbohydrate sulfotransferase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1344494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303028	Chst7	carbohydrate sulfotransferase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303029	Phactr3	phosphatase and actin regulator 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303029	Phactr3	phosphatase and actin regulator 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303029	Phactr3	phosphatase and actin regulator 3	gene	DOID:1324	lung cancer		ISO	RGD:1605886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303029	Phactr3	phosphatase and actin regulator 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303029	Phactr3	phosphatase and actin regulator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303029	Phactr3	phosphatase and actin regulator 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303029	Phactr3	phosphatase and actin regulator 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303030	Tlr6	toll-like receptor 6	gene	DOID:0060000	infective endocarditis	susceptibility	ISO	RGD:1344850	D	RGD:127229900|PMID:25213166	20210602	RGD		DNA:SNP:cds:rs3775073(1263A>G)(p.Lys421Lys)(human)	
1303030	Tlr6	toll-like receptor 6	gene	DOID:0080711	multisystem inflammatory syndrome in children		ISO	RGD:1344850	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children	
1303030	Tlr6	toll-like receptor 6	gene	DOID:1024	leprosy		ISO	RGD:1344850	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Leprosy, susceptibility to, 1	
1303030	Tlr6	toll-like receptor 6	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1552386	D	RGD:4889534|PMID:19019963	20101203	RGD			
1303030	Tlr6	toll-like receptor 6	gene	DOID:13564	aspergillosis	susceptibility	ISO	RGD:1344850	D	RGD:4889535|PMID:16461792	20101203	RGD		DNA:SNP: :p.S249P (human)	
1303030	Tlr6	toll-like receptor 6	gene	DOID:1574	alcohol use disorder		ISO	RGD:1344850	D	RGD:597538499|PMID:34415075	20250124	RGD		mRNA:increased expression:orbitofrontal cortex	
1303030	Tlr6	toll-like receptor 6	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1344850	D	RGD:4889528|PMID:18547625	20101203	RGD		DNA:SNP (human)	
1303030	Tlr6	toll-like receptor 6	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1344850	D	RGD:4889538|PMID:15266299	20101203	RGD		DNA:SNP: :p.S249P (human)	
1303030	Tlr6	toll-like receptor 6	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:1552386	D	RGD:7246909|PMID:18256364	20130621	RGD		mRNA:increased expression:renal glomerulus (mouse)	
1303030	Tlr6	toll-like receptor 6	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1344850	D	RGD:630350413|PMID:37051380	20260113	RGD		DNA:SNP:exon:rs5743810	
1303030	Tlr6	toll-like receptor 6	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:1320607	D	RGD:7246918|PMID:18091991	20130624	RGD		DNA:missense mutations:cds:multiple (human)	
1303030	Tlr6	toll-like receptor 6	gene	DOID:4483	rhinitis		ISO	RGD:1344850	D	RGD:4145352|PMID:20815312	20101203	RGD		associated with Asthma;DNA:SNP: :rs2381289 (human)	
1303030	Tlr6	toll-like receptor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303030	Tlr6	toll-like receptor 6	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1552386	D	RGD:4889532|PMID:20070409	20101203	RGD			
1303030	Tlr6	toll-like receptor 6	gene	DOID:8677	perinatal necrotizing enterocolitis		IEP		D	RGD:5128779|PMID:19608731	20101203	RGD		mRNA:increased expression:ileum	
1303030	Tlr6	toll-like receptor 6	gene	DOID:874	bacterial pneumonia		IDA		D	RGD:4889533|PMID:19844782	20101203	RGD			
1303030	Tlr6	toll-like receptor 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344850	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16537705
1303030	Tlr6	toll-like receptor 6	gene	DOID:9004484	Sepsis		ISO	RGD:1344850	D	RGD:155900762|PMID:31002148	20230215	RGD		mRNA:increased expression:plasma	
1303030	Tlr6	toll-like receptor 6	gene	DOID:9005372	Inflammation		IDA		D	RGD:4889539|PMID:16154916	20101203	RGD			
1303030	Tlr6	toll-like receptor 6	gene	DOID:9005372	Inflammation		ISO	RGD:1552386	D	RGD:4889537|PMID:20016195	20101203	RGD		associated with Respiratory Hypersensitivity	
1303030	Tlr6	toll-like receptor 6	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1344850	D	RGD:630350565|PMID:26518209	20260115	RGD		mRNA:increased expression:nasal cavity mucosa	
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1350289	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation	PMID:25741868|PMID:28492532|PMID:29395073|PMID:34085946
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:11162	respiratory failure		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532|PMID:31448845
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:11830	myopia		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:1596	depressive disorder		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:2030	anxiety disorder		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:9008023	Memory Disorders		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:9009153	Neurodegeneration with Brain Iron Accumulation 8		ISO	RGD:1350289	D	RGD:7240710	20190315	OMIM			
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:9009153	Neurodegeneration with Brain Iron Accumulation 8		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CRAT-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8	PMID:25741868|PMID:28492532|PMID:31448845
1303031	Crat	carnitine O-acetyltransferase	gene	DOID:9834	hyperopia		ISO	RGD:1350289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1303032	Krt39	keratin 39	gene	DOID:1324	lung cancer		ISO	RGD:1604916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303032	Krt39	keratin 39	gene	DOID:4362	cervical cancer		ISO	RGD:1604916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303032	Krt39	keratin 39	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303034	Gpn3	GPN-loop GTPase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303034	Gpn3	GPN-loop GTPase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303034	Gpn3	GPN-loop GTPase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303034	Gpn3	GPN-loop GTPase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303035	Kif5a	kinesin family member 5A	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1347916	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	PMID:20386726|PMID:25008398|PMID:25741868|PMID:29892902
1303035	Kif5a	kinesin family member 5A	gene	DOID:0051061	stroke		ISO	RGD:1347916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stroke	PMID:27957547
1303035	Kif5a	kinesin family member 5A	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1550437	D	RGD:12798528|PMID:23006449	20170324	RGD		mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse)	
1303035	Kif5a	kinesin family member 5A	gene	DOID:0081379	amyotrophic lateral sclerosis type 25		ISO	RGD:1347916	D	RGD:7240710	20260812	OMIM			
1303035	Kif5a	kinesin family member 5A	gene	DOID:0081379	amyotrophic lateral sclerosis type 25		ISO	RGD:1347916	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29342275|PMID:29566793|PMID:29954873|PMID:32815063|PMID:9536098
1303035	Kif5a	kinesin family member 5A	gene	DOID:0110069	frontotemporal dementia and/or amyotrophic lateral sclerosis 4		ISO	RGD:1347916	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	PMID:25741868|PMID:28492532|PMID:32579787
1303035	Kif5a	kinesin family member 5A	gene	DOID:0110763	hereditary spastic paraplegia 10		ISO	RGD:1347916	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303035	Kif5a	kinesin family member 5A	gene	DOID:0110763	hereditary spastic paraplegia 10		ISO	RGD:1347916	D	RGD:12793061|PMID:18245137	20170320	RGD		DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human)	
1303035	Kif5a	kinesin family member 5A	gene	DOID:0110763	hereditary spastic paraplegia 10		ISO	RGD:1347916	D	RGD:12793065|PMID:12355402	20170320	RGD		DNA:missense mutation:cds:p.N256S (human)	
1303035	Kif5a	kinesin family member 5A	gene	DOID:0110763	hereditary spastic paraplegia 10		ISO	RGD:1347916	D	RGD:12793068|PMID:25352184	20170320	RGD		DNA:missense mutation:cds:p.R162W (human)	
1303035	Kif5a	kinesin family member 5A	gene	DOID:0110763	hereditary spastic paraplegia 10		ISO	RGD:1347916	D	RGD:12793069|PMID:26374131	20170320	RGD		DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human)	
1303035	Kif5a	kinesin family member 5A	gene	DOID:0110763	hereditary spastic paraplegia 10		ISO	RGD:1347916	D	RGD:12859090|PMID:24939576	20170412	RGD		DNA:missense mutation:cds:p.L259Q (human)	
1303035	Kif5a	kinesin family member 5A	gene	DOID:0110763	hereditary spastic paraplegia 10		ISO	RGD:1347916	D	RGD:12859091|PMID:15452312	20170412	RGD		DNA:missense mutation:cds:p.R280C (human)	
1303035	Kif5a	kinesin family member 5A	gene	DOID:0110763	hereditary spastic paraplegia 10		ISO	RGD:1347916	D	RGD:7240710	20260812	OMIM			
1303035	Kif5a	kinesin family member 5A	gene	DOID:0110763	hereditary spastic paraplegia 10		ISO	RGD:1347916	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY	PMID:12355402|PMID:15452312|PMID:16476820|PMID:16489470|PMID:17576681|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:22714410|PMID:24123792|PMID:25008398|PMID:25741868|PMID:26467025|PMID:26543653|PMID:27463701|PMID:28362824|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29566793|PMID:29892902|PMID:29908077|PMID:30057544|PMID:30581417|PMID:31211173|PMID:31422367|PMID:31475037|PMID:32720330|PMID:33059505|PMID:33155544|PMID:33208543|PMID:34354735|PMID:34983064|PMID:35578252|PMID:35896380|PMID:37524782|PMID:40225153|PMID:42120987|PMID:9536098
1303035	Kif5a	kinesin family member 5A	gene	DOID:0110763	hereditary spastic paraplegia 10		ISO	RGD:1550437	D	RGD:12793060|PMID:22466687	20170320	RGD			
1303035	Kif5a	kinesin family member 5A	gene	DOID:10283	prostate cancer		ISO	RGD:1347916	D	RGD:11062257|PMID:23265383	20170320	RGD		DNA:mutations:multiple (human)	
1303035	Kif5a	kinesin family member 5A	gene	DOID:10283	prostate cancer		ISO	RGD:1347916	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:28492532
1303035	Kif5a	kinesin family member 5A	gene	DOID:10283	prostate cancer		ISO	RGD:1347916	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:28492532
1303035	Kif5a	kinesin family member 5A	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1347916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	
1303035	Kif5a	kinesin family member 5A	gene	DOID:1115	sarcoma		ISO	RGD:1347916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303035	Kif5a	kinesin family member 5A	gene	DOID:12859	choreatic disease		ISO	RGD:1347916	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Paroxysmal dyskinesia	PMID:25741868|PMID:28492532
1303035	Kif5a	kinesin family member 5A	gene	DOID:1826	epilepsy		ISO	RGD:1550437	D	RGD:12859092|PMID:23217743	20170412	RGD			
1303035	Kif5a	kinesin family member 5A	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:1347916	D	RGD:12793067|PMID:20508602	20170320	RGD		DNA:snp:intron:c.1717-152C>G (rs1678542) (human)	
1303035	Kif5a	kinesin family member 5A	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347916	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:15452312|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:25008398|PMID:25695920|PMID:25741868|PMID:26467025|PMID:26543653|PMID:28492532|PMID:28708278|PMID:28832565|PMID:29892902|PMID:31211173|PMID:31403080|PMID:31475037
1303035	Kif5a	kinesin family member 5A	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347916	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:15452312|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:25008398|PMID:25695920|PMID:25741868|PMID:26467025|PMID:26543653|PMID:27463701|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29892902|PMID:30057544|PMID:31108397|PMID:31211173|PMID:31403080|PMID:31404076|PMID:31475037|PMID:33059505|PMID:33310205|PMID:34715294|PMID:34983064|PMID:35303589|PMID:35578252|PMID:37524782|PMID:37926714
1303035	Kif5a	kinesin family member 5A	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347916	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:15452312|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:25008398|PMID:25741868|PMID:26467025|PMID:26543653|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29892902|PMID:29908077|PMID:30057544|PMID:31211173|PMID:31475037|PMID:33059505|PMID:35578252|PMID:37524782
1303035	Kif5a	kinesin family member 5A	gene	DOID:3070	high grade glioma		ISO	RGD:1347916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303035	Kif5a	kinesin family member 5A	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1347916	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868|PMID:28492532
1303035	Kif5a	kinesin family member 5A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1303035	Kif5a	kinesin family member 5A	gene	DOID:5041	esophageal cancer		ISO	RGD:1347916	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303035	Kif5a	kinesin family member 5A	gene	DOID:5214	demyelinating polyneuropathy		ISO	RGD:1347916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Demyelinating peripheral neuropathy	PMID:25741868
1303035	Kif5a	kinesin family member 5A	gene	DOID:5419	schizophrenia		ISO	RGD:1347916	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1303035	Kif5a	kinesin family member 5A	gene	DOID:543	dystonia		ISO	RGD:1347916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:18853458|PMID:22714410|PMID:24123792|PMID:25741868|PMID:28362824|PMID:28492532
1303035	Kif5a	kinesin family member 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303035	Kif5a	kinesin family member 5A	gene	DOID:607	paraplegia		ISO	RGD:1347916	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:15452312|PMID:16199547|PMID:16476820|PMID:16489470|PMID:17576681|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21107874|PMID:21623771|PMID:22714410|PMID:24123792|PMID:24731568|PMID:25008398|PMID:25352184|PMID:25640679|PMID:25741868|PMID:26374131|PMID:26403765|PMID:26467025|PMID:26543653|PMID:27084214|PMID:27414745|PMID:28362824|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29342275|PMID:29566793|PMID:29892902|PMID:29908077|PMID:29954873|PMID:30057544|PMID:30581417|PMID:30778698|PMID:31211173|PMID:31422367|PMID:31475037|PMID:31612903|PMID:31827005|PMID:32501971|PMID:32815063|PMID:32888732|PMID:33059505|PMID:33155544|PMID:33208543|PMID:33589474|PMID:33829936|PMID:34544842|PMID:35385738|PMID:35430760|PMID:35578252|PMID:35714755|PMID:35735139|PMID:35896380|PMID:36139378|PMID:36604770|PMID:37524782|PMID:37593923|PMID:37952009|PMID:38397244|PMID:38465286|PMID:38927616|PMID:40225153|PMID:9536098
1303035	Kif5a	kinesin family member 5A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1303035	Kif5a	kinesin family member 5A	gene	DOID:630	genetic disease		ISO	RGD:1347916	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29908077
1303035	Kif5a	kinesin family member 5A	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1347916	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
1303035	Kif5a	kinesin family member 5A	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1347916	D	RGD:12793073|PMID:21784728	20170321	RGD		DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) (human)	
1303035	Kif5a	kinesin family member 5A	gene	DOID:7148	rheumatoid arthritis	susceptibility	ISO	RGD:1347916	D	RGD:12793072|PMID:23378462	20170321	RGD		DNA:snp:intron:c.1717-152C>G (rs1678542) (human)	
1303035	Kif5a	kinesin family member 5A	gene	DOID:7596	asbestos-related lung carcinoma	susceptibility	ISO	RGD:1347916	D	RGD:12793066|PMID:21231887	20170320	RGD		protein:increased expression:serum (human)	
1303035	Kif5a	kinesin family member 5A	gene	DOID:870	neuropathy		ISO	RGD:1347916	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:18853458|PMID:21623771|PMID:25008398|PMID:25741868
1303035	Kif5a	kinesin family member 5A	gene	DOID:9001196	Nervous System Heredodegenerative Disorders		ISO	RGD:1347916	D	RGD:8554872	20240305	ClinVar		ClinVar Annotator: match by term: Inherited neurodegenerative disorder	PMID:25741868
1303035	Kif5a	kinesin family member 5A	gene	DOID:9001890	Auditory Neuropathy		ISO	RGD:1347916	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy	
1303035	Kif5a	kinesin family member 5A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1347916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:15452312|PMID:18203753|PMID:18853458|PMID:25008398|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29892902|PMID:31211173
1303035	Kif5a	kinesin family member 5A	gene	DOID:9006777	Neonatal Intractable Myoclonus		ISO	RGD:1347916	D	RGD:7240710	20260812	OMIM			
1303035	Kif5a	kinesin family member 5A	gene	DOID:9006777	Neonatal Intractable Myoclonus		ISO	RGD:1347916	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: MYOCLONUS, INTRACTABLE, NEONATAL | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal	PMID:18853458|PMID:22714410|PMID:24123792|PMID:25741868|PMID:26374131|PMID:27414745|PMID:27463701|PMID:28362824|PMID:28492532|PMID:39333504
1303035	Kif5a	kinesin family member 5A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1347916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:18853458|PMID:22714410|PMID:24123792|PMID:25741868|PMID:28362824|PMID:28492532
1303036	Rpap3	RNA polymerase II associated protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303036	Rpap3	RNA polymerase II associated protein 3	gene	DOID:3275	thymoma		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303036	Rpap3	RNA polymerase II associated protein 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303036	Rpap3	RNA polymerase II associated protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603005	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303036	Rpap3	RNA polymerase II associated protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303036	Rpap3	RNA polymerase II associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303036	Rpap3	RNA polymerase II associated protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303036	Rpap3	RNA polymerase II associated protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303036	Rpap3	RNA polymerase II associated protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:0070405	hypomyelinating leukodystrophy 16		ISO	RGD:1603394	D	RGD:7240710	20190315	OMIM			
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:0070405	hypomyelinating leukodystrophy 16		ISO	RGD:1603394	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16 | ClinVar Annotator: match by term: TMEM106B-related condition	PMID:10338095|PMID:10737981|PMID:16941474|PMID:17309651|PMID:25741868|PMID:28492532|PMID:29186371|PMID:29194508|PMID:29444210|PMID:32572497|PMID:32595021|PMID:33597727
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:0080600	COVID-19		ISO	RGD:1603394	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:33686287
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:10534	stomach cancer		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:1115	sarcoma		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:3275	thymoma		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:4362	cervical cancer		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:630	genetic disease		ISO	RGD:1603394	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:8725	vascular dementia		ISO	RGD:1603394	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:33268848
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1603394	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20154673
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303037	Tmem106b	transmembrane protein 106B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303038	G4	G4 protein	gene	DOID:0112342	hereditary spastic paraplegia 86		ISO	RGD:1354435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive	PMID:25741868
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1348620	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:15322546|PMID:16155189|PMID:16453322|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1348620	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:15322546|PMID:16155189|PMID:16453322|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038|PMID:36819107
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1348620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:15322546|PMID:16155189|PMID:16453322|PMID:25525159|PMID:25741868|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1348620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joubert Syndrome | ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21623382|PMID:21866095|PMID:21937992|PMID:23532844|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29146704|PMID:29186038|PMID:31054281|PMID:31069529|PMID:31319225|PMID:31456290|PMID:31589614|PMID:31963381|PMID:3196484|PMID:32335874|PMID:32865313|PMID:33879512|PMID:34205586|PMID:34627237|PMID:35087072|PMID:36819107|PMID:37446072|PMID:9536098
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0060025	immunoglobulin alpha deficiency		ISO	RGD:1348620	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:27723758
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348620	D	RGD:11537389|PMID:18782849	20161003	RGD		DNA:SNPs, haplotype	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348620	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26729329|PMID:26759440|PMID:28041643|PMID:28118669|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:31319225|PMID:32865313|PMID:34906502|PMID:9536098
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348620	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:20301500|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:29343940|PMID:30055837|PMID:30755392|PMID:31319225|PMID:32335874|PMID:32865313|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906502|PMID:9536098
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348620	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25445212|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25741913|PMID:25741916|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:29343940|PMID:30055837|PMID:30755392|PMID:31054281|PMID:31069529|PMID:31319225|PMID:31624253|PMID:32165824|PMID:32335874|PMID:32865313|PMID:33879512|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906502|PMID:36819107|PMID:9536098
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348620	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21228398|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:22995991|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25445212|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28391287|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:28976722|PMID:29186038|PMID:29343940|PMID:30055837|PMID:30755392|PMID:31054281|PMID:31069529|PMID:31319225|PMID:31456290|PMID:31589614|PMID:31624253|PMID:31938409|PMID:3196484|PMID:31964843|PMID:32165824|PMID:32335874|PMID:32483926|PMID:32865313|PMID:33879512|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906502|PMID:35087072|PMID:36819107|PMID:9536098
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348620	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21228398|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:22995991|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25445212|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28391287|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:28976722|PMID:29186038|PMID:29343940|PMID:30055837|PMID:30755392|PMID:31054281|PMID:31069529|PMID:31319225|PMID:31456290|PMID:31589614|PMID:31624253|PMID:31938409|PMID:3196484|PMID:31964843|PMID:32165824|PMID:32335874|PMID:32483926|PMID:32531858|PMID:32865313|PMID:33879512|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906470|PMID:34906502|PMID:35087072|PMID:36460718|PMID:36648511|PMID:36819107|PMID:37217489|PMID:37734845|PMID:37798099|PMID:38465142|PMID:9536098
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348620	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: JOUBERT-BOLTSHAUSER SYNDROME | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17576681|PMID:18414213|PMID:21623382|PMID:21866095|PMID:25525159|PMID:25741868|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038|PMID:31456290|PMID:31589614|PMID:3196484|PMID:32865313|PMID:33879512|PMID:37798099|PMID:9536098
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1348620	D	RGD:11343130|PMID:26541515	20161003	RGD		DNA:nonsense mutation:cds:c.910dup (human)	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1348620	D	RGD:11537346|PMID:18054307	20160930	RGD		DNA:missense mutation, nonsense mutations:exon:multiple	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1348620	D	RGD:11537387|PMID:16453322	20161003	RGD		DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1348620	D	RGD:11537388|PMID:15322546	20161003	RGD		DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human)	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1348620	D	RGD:11537395|PMID:18268248	20161004	RGD		DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human)	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1348620	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1348620	D	RGD:1304518|PMID:15467982	20160930	RGD		DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human)	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1348620	D	RGD:1598905|PMID:16155189	20061220	RGD		DNA:missense mutation, nonsense mutations:exon:multiple	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1348620	D	RGD:7240710	20130221	OMIM			
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1348620	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AHI1-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 3 | ClinVar Annotator: match by term: Joubert syndrome 3 | ClinVar Annotator: match by term: Joubert syndrome-3	PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17377524|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21623382|PMID:21937992|PMID:22236771|PMID:24690944|PMID:25356976|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:27434533|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29146704|PMID:29186038|PMID:29343940|PMID:29987673|PMID:31130284|PMID:31456290|PMID:31589614|PMID:31624253|PMID:3196484|PMID:32483926|PMID:33879512|PMID:34627237|PMID:34906502|PMID:9536098
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1348620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AHI1-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 3 | ClinVar Annotator: match by term: Joubert syndrome 3 | ClinVar Annotator: match by term: Joubert syndrome-3	PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17377524|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21623382|PMID:21866095|PMID:21937992|PMID:24690944|PMID:25356976|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:27434533|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29146704|PMID:29186038|PMID:29343940|PMID:29987673|PMID:31130284|PMID:31456290|PMID:31589614|PMID:31624253|PMID:3196484|PMID:32483926|PMID:33879512|PMID:34627237|PMID:34906502|PMID:9536098
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1552406	D	RGD:11537390|PMID:21623382	20161003	RGD			
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISS	RGD:1552406	D	RGD:13592920	20230718	MouseDO		OMIM:608629	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0110999	Joubert syndrome 4		ISO	RGD:1348620	D	RGD:7246903|PMID:17409309	20160930	RGD		DNA:missense mutation:cds:p.R830W (c.2488C>T) (human)	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1348620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:15322546|PMID:16155189|PMID:16453322|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:0111589	COACH syndrome		ISO	RGD:1348620	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joubert syndrome with ocular defect	PMID:16453322|PMID:21623382|PMID:25741868|PMID:26092869|PMID:28492532
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1348620	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15322546|PMID:16453322|PMID:21866095|PMID:24033266|PMID:25445212|PMID:25741868|PMID:26092869|PMID:28041643|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038|PMID:32165824|PMID:34191236
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1348620	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:15322546|PMID:16453322|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038|PMID:31456290
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:1059	intellectual disability		ISO	RGD:1348620	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:1059	intellectual disability		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:16453322|PMID:25741868|PMID:28492532
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:10907	microcephaly		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:1115	sarcoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1348620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:15322546|PMID:16155189|PMID:16453322|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:12712	nephronophthisis		ISS	RGD:1552406	D	RGD:13592920	20180518	MouseDO			
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:12849	autistic disorder		ISO	RGD:1348620	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18782849
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:12849	autistic disorder		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1348620	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:15322546|PMID:16453322|PMID:25445212|PMID:25741868|PMID:26092869|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:1826	epilepsy		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: seizures	PMID:15322546|PMID:16453322|PMID:16541367|PMID:25741868|PMID:28097321|PMID:28442542|PMID:28492532|PMID:29186038
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:1909	melanoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:2786	cerebellar disease		ISO	RGD:1348620	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20371615
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:3275	thymoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348620	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:5419	schizophrenia		ISO	RGD:1348620	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20371615
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:5679	retinal disease		ISO	RGD:1348620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:15322546|PMID:16453322|PMID:28442542|PMID:28492532|PMID:29186038
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:5723	optic atrophy		ISO	RGD:1348620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:18054307|PMID:21228398|PMID:22995991|PMID:25326637|PMID:25356976|PMID:25741868|PMID:26035799|PMID:26035800|PMID:28391287|PMID:28492532|PMID:28976722|PMID:31938409
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:630	genetic disease		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:8466	retinal degeneration		ISO	RGD:1348620	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20081859
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1348620	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17377524|PMID:18054307|PMID:21068128|PMID:21937992|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28125082|PMID:28442542|PMID:28492532|PMID:29186038|PMID:30055837|PMID:30755392|PMID:31456290|PMID:31589614|PMID:3196484|PMID:31964843|PMID:32865313|PMID:34906470|PMID:36460718|PMID:36648511|PMID:36819107|PMID:37217489|PMID:37734845|PMID:37798099|PMID:38465142
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:9004866	Ataxia		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:26092869|PMID:29146704
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:26092869|PMID:29146704
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348620	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1348620	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:28492532
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1348620	D	RGD:11537398|PMID:20045148	20161004	RGD		mRNA:increased expression:vastus lateralis	
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:26092869|PMID:29146704
1303040	Ahi1	Abelson helper integration site 1	gene	DOID:9970	obesity		ISO	RGD:1348620	D	RGD:11537398|PMID:20045148	20161004	RGD		mRNA:increased expression:vastus lateralis	
1303041	Pclaf	PCNA clamp associated factor	gene	DOID:10534	stomach cancer		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303041	Pclaf	PCNA clamp associated factor	gene	DOID:1324	lung cancer		ISO	RGD:1353661	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303041	Pclaf	PCNA clamp associated factor	gene	DOID:1909	melanoma		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303041	Pclaf	PCNA clamp associated factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1353661	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303041	Pclaf	PCNA clamp associated factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303041	Pclaf	PCNA clamp associated factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353661	D	RGD:11554173	20190702	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1303041	Pclaf	PCNA clamp associated factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303041	Pclaf	PCNA clamp associated factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303043	Clic1	CLIC family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303043	Clic1	CLIC family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1353337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303043	Clic1	CLIC family member 1	gene	DOID:1909	melanoma		ISO	RGD:1353337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303043	Clic1	CLIC family member 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1353337	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
1303043	Clic1	CLIC family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303043	Clic1	CLIC family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303043	Clic1	CLIC family member 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1353337	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1303043	Clic1	CLIC family member 1	gene	DOID:8398	osteoarthritis		ISO	RGD:1353337	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1303043	Clic1	CLIC family member 1	gene	DOID:9000058	Keloid		ISO	RGD:1353337	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
1303043	Clic1	CLIC family member 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1353337	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
1303043	Clic1	CLIC family member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353337	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303043	Clic1	CLIC family member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353337	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
1303043	Clic1	CLIC family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303044	Krt15	keratin 15	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1342638	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1303044	Krt15	keratin 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303044	Krt15	keratin 15	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1342638	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1303044	Krt15	keratin 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303044	Krt15	keratin 15	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1342638	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22011395
1303046	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303046	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303046	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303046	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303046	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303046	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347555	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303046	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303046	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:630	genetic disease		ISO	RGD:1347555	D	RGD:8554872	20180109	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1303046	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303046	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303046	Mtif2	mitochondrial translational initiation factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303047	Fscn3	fascin actin-bundling protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303047	Fscn3	fascin actin-bundling protein 3	gene	DOID:10892	hypospadias		ISO	RGD:1353847	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1303047	Fscn3	fascin actin-bundling protein 3	gene	DOID:1909	melanoma		ISO	RGD:1353847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303047	Fscn3	fascin actin-bundling protein 3	gene	DOID:3275	thymoma		ISO	RGD:1353847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303047	Fscn3	fascin actin-bundling protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303047	Fscn3	fascin actin-bundling protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303047	Fscn3	fascin actin-bundling protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303048	Slco4c1	solute carrier organic anion transporter family, member 4C1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303048	Slco4c1	solute carrier organic anion transporter family, member 4C1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303048	Slco4c1	solute carrier organic anion transporter family, member 4C1	gene	DOID:10534	stomach cancer		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303048	Slco4c1	solute carrier organic anion transporter family, member 4C1	gene	DOID:1074	kidney failure		IEP		D	RGD:1303977|PMID:14993604	20171110	RGD		mRNA:decreased expression:kidney	
1303048	Slco4c1	solute carrier organic anion transporter family, member 4C1	gene	DOID:1115	sarcoma		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303048	Slco4c1	solute carrier organic anion transporter family, member 4C1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303048	Slco4c1	solute carrier organic anion transporter family, member 4C1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303048	Slco4c1	solute carrier organic anion transporter family, member 4C1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303048	Slco4c1	solute carrier organic anion transporter family, member 4C1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303048	Slco4c1	solute carrier organic anion transporter family, member 4C1	gene	DOID:9256	colorectal cancer		ISO	RGD:1354473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:0080833	laryngomalacia		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:10534	stomach cancer		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:1059	intellectual disability		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:10907	microcephaly		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:1115	sarcoma		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:1459	hypothyroidism		IEP		D	RGD:11522362|PMID:10582581	20171222	RGD		mRNA:increased expression:striatum	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:4362	cervical cancer		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:480	movement disease		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:5041	esophageal cancer		ISO	RGD:1343038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:543	dystonia		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:6000	congestive heart failure		IDA		D	RGD:13464132|PMID:24395194	20171222	RGD		protein:increased serine phosphorylation:heart, mitochondrion	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:6000	congestive heart failure		ISO	RGD:1343038	D	RGD:13464131|PMID:25022898	20171222	RGD		mRNA:decreased expression:heart	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:630	genetic disease		ISO	RGD:1343038	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:9003936	Cardiomegaly		IEP		D	RGD:13464131|PMID:25022898	20171222	RGD		protein:decreased expression:left ventricle myocardium	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1551718	D	RGD:13464131|PMID:25022898	20171222	RGD		protein:decreased expression:heart	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:13463486|PMID:23255365	20171219	RGD		protein:decreased expression:retina	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303049	Tomm70	translocase of outer mitochondrial membrane 70	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303050	Zbtb9	zinc finger and BTB domain containing 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1354226	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303050	Zbtb9	zinc finger and BTB domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303051	Gnl1	G protein nucleolar 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303051	Gnl1	G protein nucleolar 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303051	Gnl1	G protein nucleolar 1	gene	DOID:1324	lung cancer		ISO	RGD:1352530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303051	Gnl1	G protein nucleolar 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352530	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303051	Gnl1	G protein nucleolar 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303051	Gnl1	G protein nucleolar 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352530	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303051	Gnl1	G protein nucleolar 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303051	Gnl1	G protein nucleolar 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303052	Usp11	ubiquitin specific peptidase 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303052	Usp11	ubiquitin specific peptidase 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303052	Usp11	ubiquitin specific peptidase 11	gene	DOID:1115	sarcoma		ISO	RGD:1347156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303052	Usp11	ubiquitin specific peptidase 11	gene	DOID:12215	oligohydramnios		ISO	RGD:1347156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
1303052	Usp11	ubiquitin specific peptidase 11	gene	DOID:1324	lung cancer		ISO	RGD:1347156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303052	Usp11	ubiquitin specific peptidase 11	gene	DOID:1909	melanoma		ISO	RGD:1347156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303052	Usp11	ubiquitin specific peptidase 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1347156	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303052	Usp11	ubiquitin specific peptidase 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303052	Usp11	ubiquitin specific peptidase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303052	Usp11	ubiquitin specific peptidase 11	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1347156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Situs inversus	
1303052	Usp11	ubiquitin specific peptidase 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303052	Usp11	ubiquitin specific peptidase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303052	Usp11	ubiquitin specific peptidase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303052	Usp11	ubiquitin specific peptidase 11	gene	DOID:9563	bronchiectasis		ISO	RGD:1347156	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	
1303053	Fuca2	alpha-L-fucosidase 2	gene	DOID:0080600	COVID-19		ISO	RGD:1344103	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1303053	Fuca2	alpha-L-fucosidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303053	Fuca2	alpha-L-fucosidase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303053	Fuca2	alpha-L-fucosidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303053	Fuca2	alpha-L-fucosidase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303053	Fuca2	alpha-L-fucosidase 2	gene	DOID:9002189	High Myopia		ISO	RGD:1344103	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1303054	Prss58	serine protease 58	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303055	Ubl7	ubiquitin-like 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303055	Ubl7	ubiquitin-like 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303055	Ubl7	ubiquitin-like 7	gene	DOID:10534	stomach cancer		ISO	RGD:1602843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303055	Ubl7	ubiquitin-like 7	gene	DOID:1909	melanoma		ISO	RGD:1602843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303055	Ubl7	ubiquitin-like 7	gene	DOID:3070	high grade glioma		ISO	RGD:1602843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303055	Ubl7	ubiquitin-like 7	gene	DOID:4362	cervical cancer		ISO	RGD:1602843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303055	Ubl7	ubiquitin-like 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303055	Ubl7	ubiquitin-like 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303055	Ubl7	ubiquitin-like 7	gene	DOID:9256	colorectal cancer		ISO	RGD:126736038	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:28492532
1303057	Tmem178a	transmembrane protein 178A	gene	DOID:1909	melanoma		ISO	RGD:1602302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303057	Tmem178a	transmembrane protein 178A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303057	Tmem178a	transmembrane protein 178A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1332223	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303058	Chia	chitinase, acidic	gene	DOID:0050073	invasive aspergillosis	treatment	IEP		D	RGD:631723613|PMID:24155872	20260122	RGD			
1303058	Chia	chitinase, acidic	gene	DOID:0050127	sinusitis	severity	ISO	RGD:1604020	D	RGD:5037227|PMID:19379605	20110303	RGD		mRNA:decreased expression:sinus, epithelial cell (human)	
1303058	Chia	chitinase, acidic	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1604020	D	RGD:632518424|PMID:35122869	20260224	RGD		mRNA:decreased expression:lung	
1303058	Chia	chitinase, acidic	gene	DOID:10325	silicosis		IEP		D	RGD:4893904|PMID:18685790	20110301	RGD		mRNA:increased expression:lung (rat)	
1303058	Chia	chitinase, acidic	gene	DOID:12053	cryptococcosis		IEP		D	RGD:4990459|PMID:18482441	20110301	RGD		protein:increased expression:lung (rat)	
1303058	Chia	chitinase, acidic	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:1604020	D	RGD:630350389|PMID:21159721	20260122	RGD		protein:increased expression:cerebrospinal fluid	
1303058	Chia	chitinase, acidic	gene	DOID:2841	asthma		ISO	RGD:1604020	D	RGD:4985150|PMID:15192232	20110301	RGD		mRNA:increased expression:lung, epithelial cell (human)	
1303058	Chia	chitinase, acidic	gene	DOID:2841	asthma		ISO	RGD:1604020	D	RGD:4996473|PMID:16179638	20110301	RGD		DNA:snps:5' utr, cds:multiple (human)	
1303058	Chia	chitinase, acidic	gene	DOID:2841	asthma		ISO	RGD:1615785	D	RGD:4990463|PMID:14734765	20110301	RGD		mRNA:increased expression:lung (mouse)	
1303058	Chia	chitinase, acidic	gene	DOID:2841	asthma		ISO	RGD:1615785	D	RGD:5024921|PMID:19548841	20110302	RGD			
1303058	Chia	chitinase, acidic	gene	DOID:2841	asthma	no_association	ISO	RGD:1604020	D	RGD:5024922|PMID:20226308	20110302	RGD		DNA:snps:multiple (human)	
1303058	Chia	chitinase, acidic	gene	DOID:3275	thymoma		ISO	RGD:1604020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303058	Chia	chitinase, acidic	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1615785	D	RGD:632518424|PMID:35122869	20260216	RGD		protein:decreased expression:lung	
1303058	Chia	chitinase, acidic	gene	DOID:8869	neuromyelitis optica		ISO	RGD:1604020	D	RGD:630350389|PMID:21159721	20260122	RGD		protein:increased expression:cerebrospinal fluid	
1303058	Chia	chitinase, acidic	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1604020	D	RGD:5024927|PMID:16871939	20110302	RGD		associated with Sinusitis; mRNA:increased expression:mucosa of ethmoidal sinus (human)	
1303058	Chia	chitinase, acidic	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1604020	D	RGD:630350387|PMID:19786213	20260122	RGD		mRNA, protein:increased expression:nasal cavity mucosa	
1303058	Chia	chitinase, acidic	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1604020	D	RGD:631723612|PMID:21711963	20260122	RGD		protein:increased expression:nasal cavity mucosa	
1303058	Chia	chitinase, acidic	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1604020	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1303058	Chia	chitinase, acidic	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:1604020	D	RGD:5037226|PMID:20422678	20110303	RGD		mRNA, protein:increased expression:turbinate, mucosa (human)	
1303058	Chia	chitinase, acidic	gene	DOID:9005372	Inflammation		ISO	RGD:1615785	D	RGD:5024919|PMID:17450126	20110302	RGD			
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:0111414	trichohepatoenteric syndrome		ISO	RGD:1351044	D	RGD:11554173	20190326	CTD		CTD Direct Evidence: marker/mechanism	
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:0111414	trichohepatoenteric syndrome		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichohepatoenteric syndrome	PMID:16199547|PMID:22444670|PMID:28492532
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:0111416	trichohepatoenteric syndrome 2		ISO	RGD:1351044	D	RGD:7240710	20140903	OMIM			
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:0111416	trichohepatoenteric syndrome 2		ISO	RGD:1351044	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: TRICHOHEPATOENTERIC SYNDROME 2 | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 | ClinVar Annotator: match by term: trichohepatoenteric syndrome 2	PMID:16199547|PMID:22444670|PMID:24033266|PMID:25741868|PMID:27050310|PMID:27431780|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:32313153|PMID:32963807|PMID:33114497|PMID:33249554|PMID:34414925|PMID:35607352
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:1115	sarcoma		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:1324	lung cancer		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:3275	thymoma		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:4362	cervical cancer		ISO	RGD:1351044	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:6039	uveal melanoma		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:24033266|PMID:25741868|PMID:28492532
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:630	genetic disease		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
1303059	Skic2	SKI2 subunit of superkiller complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303060	Hyal1	hyaluronidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303060	Hyal1	hyaluronidase 1	gene	DOID:0050809	mucopolysaccharidosis IX		ISO	RGD:1352194	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303060	Hyal1	hyaluronidase 1	gene	DOID:0050809	mucopolysaccharidosis IX		ISO	RGD:1352194	D	RGD:7240710	20131030	OMIM			
1303060	Hyal1	hyaluronidase 1	gene	DOID:0050809	mucopolysaccharidosis IX		ISO	RGD:1352194	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IX | ClinVar Annotator: match by term: Mucopolysaccharidosis type IX	PMID:10339581|PMID:16199547|PMID:17576681|PMID:21559944|PMID:25741868|PMID:28492532|PMID:9536098
1303060	Hyal1	hyaluronidase 1	gene	DOID:0050809	mucopolysaccharidosis IX		ISS	RGD:1550529	D	RGD:13592920	20230718	MouseDO		OMIM:601492	
1303060	Hyal1	hyaluronidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303060	Hyal1	hyaluronidase 1	gene	DOID:12798	mucopolysaccharidosis		ISO	RGD:1352194	D	RGD:1599811|PMID:10339581	20070215	RGD		mucopolysaccharidosis IX, OMIM:601492	
1303060	Hyal1	hyaluronidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352194	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303060	Hyal1	hyaluronidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303060	Hyal1	hyaluronidase 1	gene	DOID:6432	pulmonary hypertension		IEP		D	RGD:9588633|PMID:19915162	20141103	RGD		mRNA:decreased expression:lung	
1303060	Hyal1	hyaluronidase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1303060	Hyal1	hyaluronidase 1	gene	DOID:9006223	Kidney Reperfusion Injury		IEP		D	RGD:9588636|PMID:22529164	20141103	RGD			
1303060	Hyal1	hyaluronidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303061	Cenpc	centromere protein C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303061	Cenpc	centromere protein C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303061	Cenpc	centromere protein C	gene	DOID:0060218	CREST syndrome		ISO	RGD:1354407	D	RGD:27372886|PMID:25220385	20200529	RGD		associated with  Anticentromere antibody positivity	
1303061	Cenpc	centromere protein C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303061	Cenpc	centromere protein C	gene	DOID:1115	sarcoma		ISO	RGD:1354407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303061	Cenpc	centromere protein C	gene	DOID:1909	melanoma		ISO	RGD:1354407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303061	Cenpc	centromere protein C	gene	DOID:4362	cervical cancer		ISO	RGD:1354407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303061	Cenpc	centromere protein C	gene	DOID:5041	esophageal cancer		ISO	RGD:1354407	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303061	Cenpc	centromere protein C	gene	DOID:5082	liver cirrhosis		ISO	RGD:1354407	D	RGD:27372886|PMID:25220385	20200529	RGD		associated with  Anticentromere antibody positivity	
1303061	Cenpc	centromere protein C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303061	Cenpc	centromere protein C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303061	Cenpc	centromere protein C	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1354407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1303061	Cenpc	centromere protein C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303061	Cenpc	centromere protein C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303062	Katna1	katanin catalytic subunit A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303062	Katna1	katanin catalytic subunit A1	gene	DOID:10534	stomach cancer		ISO	RGD:1353857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303062	Katna1	katanin catalytic subunit A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353857	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303062	Katna1	katanin catalytic subunit A1	gene	DOID:1115	sarcoma		ISO	RGD:1353857	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303062	Katna1	katanin catalytic subunit A1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353857	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303062	Katna1	katanin catalytic subunit A1	gene	DOID:4362	cervical cancer		ISO	RGD:1353857	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303062	Katna1	katanin catalytic subunit A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303062	Katna1	katanin catalytic subunit A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303062	Katna1	katanin catalytic subunit A1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1353857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1303062	Katna1	katanin catalytic subunit A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303065	Spata4	spermatogenesis associated 4	gene	DOID:1115	sarcoma		ISO	RGD:1348615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303065	Spata4	spermatogenesis associated 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303065	Spata4	spermatogenesis associated 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303066	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303066	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303066	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303066	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347627	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303066	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303066	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1303066	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303066	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:9002189	High Myopia		ISO	RGD:1347627	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1303066	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347627	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1303066	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303066	Atat1	alpha tubulin acetyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:736450	D	RGD:11352253|PMID:24264604	20160712	RGD			
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:0060901	lymphoplasmacytic lymphoma	disease_progression	ISO	RGD:736450	D	RGD:11040774|PMID:21564078	20160315	RGD		DNA:polymorphism: :	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:0060901	lymphoplasmacytic lymphoma	treatment	ISO	RGD:736450	D	RGD:11352262|PMID:15659493	20160712	RGD		DNA:SNP:exon:p.F158V (rs396991) (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:0080162	lupus nephritis	susceptibility	ISO	RGD:736450	D	RGD:5508454|PMID:17596285	20160318	RGD		DNA:SNP:cds:p.V158F (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:736450	D	RGD:11040884|PMID:20400988	20160316	RGD		DNA:polymorphism:cds:p. V158F(rs396991)(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:0111941	immunodeficiency 20		ISO	RGD:736450	D	RGD:7240710	20140911	OMIM			
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:0111941	immunodeficiency 20		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	PMID:25741868
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:1037	lymphoid leukemia	no_association	ISO	RGD:736450	D	RGD:11344968|PMID:15217834	20160711	RGD		DNA:polymorphism:exon:p.F158V (rs396991) (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:10534	stomach cancer		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:10608	celiac disease		ISO	RGD:736450	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:10952	nephritis		ISO	RGD:1550776	D	RGD:5508402|PMID:16520389	20111014	RGD			
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:1115	sarcoma		ISO	RGD:736450	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:1205	allergic disease	treatment	ISO	RGD:736450	D	RGD:11352264|PMID:22025730	20160712	RGD		associated with Purpura, Thrombocytopenic, Idiopathic	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:736450	D	RGD:5508432|PMID:19026120	20111017	RGD		DNA:SNP:exon:p.F158V (rs396991)(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:13375	temporal arteritis		ISO	RGD:736450	D	RGD:5147974|PMID:16846526	20110830	RGD		DNA:polymorphism (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:1389	polyneuropathy	treatment	ISO	RGD:736450	D	RGD:11352254|PMID:24487381	20160712	RGD		associated with Monoclonal Gammopathy of Undetermined Significance;DNA:SNP:exon:p.F158V (rs396991) (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:1587	thrombocytopenia due to platelet alloimmunization	treatment	ISO	RGD:736450	D	RGD:11040770|PMID:22775462	20160315	RGD		DNA:SNP:cds:	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:1826	epilepsy	susceptibility	ISO	RGD:736450	D	RGD:5508454|PMID:17596285	20160318	RGD		associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:2377	multiple sclerosis	disease_progression	ISO	RGD:736450	D	RGD:5508375|PMID:18155780	20111013	RGD		protein:increased expression:gamma-delta T cell	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:2841	asthma	susceptibility	ISO	RGD:736450	D	RGD:5508449|PMID:18199088	20111018	RGD		DNA:polymorphism:exon:p.F158V(rs396991)(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:2921	glomerulonephritis		ISO	RGD:1550776	D	RGD:5508439|PMID:19050295	20111018	RGD			
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:2986	IgA glomerulonephritis	disease_progression	ISO	RGD:736450	D	RGD:5508463|PMID:16221721	20111018	RGD		DNA:polymorphism:exon:p.F176V(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:736450	D	RGD:5508464|PMID:15910853	20111018	RGD		DNA:SNP:exon:p.F158V (rs396991)(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:4362	cervical cancer		ISO	RGD:736450	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:4481	allergic rhinitis	susceptibility	ISO	RGD:736450	D	RGD:5508449|PMID:18199088	20111018	RGD		DNA:polymorphism:exon:p.F158V(rs396991)(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:736450	D	RGD:5508400|PMID:19946017	20111014	RGD		DNA:cnv: :	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:4780	anti-basement membrane glomerulonephritis	no_association	ISO	RGD:736450	D	RGD:5508403|PMID:19640933	20111014	RGD		DNA:polymorphism:exon:(rs396991)(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:526	human immunodeficiency virus infectious disease	susceptibility	ISO	RGD:736450	D	RGD:5508390|PMID:21187939	20111014	RGD		DNA:polymorphism:exon:p.F158V(rs396991)(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:552	pneumonia	treatment	ISO	RGD:736450	D	RGD:11352258|PMID:20423913	20160712	RGD		associated with Hodgkin Disease;DNA:SNP:exon:p.F158V (rs396991) (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:614	lymphopenia	susceptibility	ISO	RGD:736450	D	RGD:5508454|PMID:17596285	20160318	RGD		associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:633	myositis	susceptibility	ISO	RGD:736450	D	RGD:5508428|PMID:19493236	20111017	RGD		DNA:SNP:exon:p.F158V (rs396991)(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:7147	ankylosing spondylitis	severity	ISO	RGD:736450	D	RGD:5508388|PMID:8453794	20111014	RGD		protein:decreased expression:polymorphonuclear leucocyte	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736450	D	RGD:11344974|PMID:25154742	20160711	RGD		DNA:CNVs	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736450	D	RGD:5508467|PMID:15334114	20111018	RGD		protein:decreased expression:NK cell	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:7148	rheumatoid arthritis	susceptibility	ISO	RGD:736450	D	RGD:5508391|PMID:19019892	20111014	RGD		DNA:polymorphism:exon:p.F158V(rs396991)(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:848	arthritis		ISO	RGD:736450	D	RGD:5508443|PMID:19005160	20111018	RGD		DNA:SNP:exon:F158V (rs396991)(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:848	arthritis	susceptibility	ISO	RGD:736450	D	RGD:5508432|PMID:19026120	20111017	RGD		associated with Behcet Syndrome; DNA:SNP:exon:p.F158V (rs396991)(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:8778	Crohn's disease	treatment	ISO	RGD:736450	D	RGD:1304543|PMID:14987319	20160713	RGD		DNA:SNP:exon:p.F158V (rs396991) (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:736450	D	RGD:11040776|PMID:11380443	20160315	RGD		DNA:SNP:cds:p.V158F(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:8924	autoimmune thrombocytopenic purpura	susceptibility	ISO	RGD:736450	D	RGD:11040989|PMID:22123287	20160712	RGD		DNA:SNP:exon:p.F158V (rs396991) (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:8924	autoimmune thrombocytopenic purpura	treatment	ISO	RGD:1550776	D	RGD:11344926|PMID:15479722	20160708	RGD			
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:8924	autoimmune thrombocytopenic purpura	treatment	ISO	RGD:736450	D	RGD:11352255|PMID:23484707	20160712	RGD		DNA:SNP:exon:p.F158V (rs396991) (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736450	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	no_association	ISO	RGD:736450	D	RGD:11352260|PMID:14563637	20160712	RGD		DNA:SNP:exon:p.F158V (rs396991) (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9003020	Chemotherapy-Induced Febrile Neutropenia	treatment	ISO	RGD:736450	D	RGD:11344967|PMID:27282998	20160711	RGD		associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9004486	Drug-induced Neutropenia		ISO	RGD:736450	D	RGD:11344964|PMID:21883784	20160711	RGD		associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9004486	Drug-induced Neutropenia		ISO	RGD:736450	D	RGD:11344973|PMID:19933905	20160711	RGD		associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9004486	Drug-induced Neutropenia		ISO	RGD:736450	D	RGD:11352256|PMID:20730791	20160712	RGD		associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9004792	Familial Mixed Cryoglobulinemia	treatment	ISO	RGD:736450	D	RGD:11344956|PMID:21538321	20160711	RGD		DNA:polymorphism: :p.V176F (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9005125	Lupus Vasculitis, Central Nervous System		ISO	RGD:736450	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:26773105
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9008208	Heparin-induced Thrombocytopenia	susceptibility	ISO	RGD:736450	D	RGD:11040991|PMID:15191947	20160318	RGD		DNA:SNP:cds:p.V158F(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9008765	Malarial Anemia	severity	ISO	RGD:736450	D	RGD:11040771|PMID:20231419	20160711	RGD			
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9008765	Malarial Anemia	susceptibility	ISO	RGD:736450	D	RGD:11344971|PMID:23045477	20160711	RGD		DNA:polymorphism: :p.F176V (human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9009008	Temporomandibular Joint Dysfunction Syndrome		IMP		D	RGD:5508377|PMID:20589683	20111011	RGD			
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:736450	D	RGD:11344974|PMID:25154742	20160711	RGD		DNA:CNVs	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:736450	D	RGD:5508389|PMID:21370226	20111014	RGD		protein:decreased expression:NK cell	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:736450	D	RGD:5508444|PMID:18625651	20111018	RGD		DNA:SNPs:exon:rs403016,rs428888(human)	
1303067	Fcgr3a	Fc gamma receptor 3A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303068	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303068	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:0060058	lymphoma		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1303068	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1353529	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1303068	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303068	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:1324	lung cancer		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303068	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303068	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1353529	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303068	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303068	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1303068	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1353529	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1303068	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:9006549	Enterovirus Infections		ISO	RGD:1353529	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28446605
1303068	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303068	St3gal4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303069	Nup35	nucleoporin 35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303069	Nup35	nucleoporin 35	gene	DOID:0080072	intestinal pseudo-obstruction		ISS	RGD:1550583	D	RGD:13592920	20200702	MouseDO			
1303069	Nup35	nucleoporin 35	gene	DOID:10316	pneumoconiosis		ISO	RGD:1353367	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
1303069	Nup35	nucleoporin 35	gene	DOID:10534	stomach cancer		ISO	RGD:1353367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303069	Nup35	nucleoporin 35	gene	DOID:1115	sarcoma		ISO	RGD:1353367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303069	Nup35	nucleoporin 35	gene	DOID:1909	melanoma		ISO	RGD:1353367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303069	Nup35	nucleoporin 35	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303069	Nup35	nucleoporin 35	gene	DOID:3070	high grade glioma		ISO	RGD:1353367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303069	Nup35	nucleoporin 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303069	Nup35	nucleoporin 35	gene	DOID:6039	uveal melanoma		ISO	RGD:1353367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1303069	Nup35	nucleoporin 35	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303069	Nup35	nucleoporin 35	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303069	Nup35	nucleoporin 35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303071	Akap7	A-kinase anchoring protein 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303071	Akap7	A-kinase anchoring protein 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303071	Akap7	A-kinase anchoring protein 7	gene	DOID:1324	lung cancer		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303071	Akap7	A-kinase anchoring protein 7	gene	DOID:303	substance-related disorder		ISO	RGD:1350760	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1303071	Akap7	A-kinase anchoring protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303071	Akap7	A-kinase anchoring protein 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1303071	Akap7	A-kinase anchoring protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303071	Akap7	A-kinase anchoring protein 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303073	Xbp1	X-box binding protein 1	gene	DOID:0050589	inflammatory bowel disease		ISS	RGD:1332312	D	RGD:13592920	20180518	MouseDO			
1303073	Xbp1	X-box binding protein 1	gene	DOID:0060478	Zika fever		ISO	RGD:1332312	D	RGD:32733625|PMID:30241539	20200701	RGD		protein:increased expression:cerebellum, mesocephalon	
1303073	Xbp1	X-box binding protein 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1352787	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097666
1303073	Xbp1	X-box binding protein 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	IEP		D	RGD:329955565|PMID:26394137	20230717	RGD			
1303073	Xbp1	X-box binding protein 1	gene	DOID:10603	glucose intolerance		ISO	RGD:1352787	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:27325692
1303073	Xbp1	X-box binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1352787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303073	Xbp1	X-box binding protein 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1352787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1303073	Xbp1	X-box binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1352787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303073	Xbp1	X-box binding protein 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1352787	D	RGD:11554173	20210112	CTD		CTD Direct Evidence: marker/mechanism	PMID:30661753
1303073	Xbp1	X-box binding protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1352787	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21138464
1303073	Xbp1	X-box binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303073	Xbp1	X-box binding protein 1	gene	DOID:5154	borna disease		IEP		D	RGD:32733622|PMID:16912310	20200701	RGD		mRNA,protein:altered expression:cerebellum,hippocampus	
1303073	Xbp1	X-box binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303073	Xbp1	X-box binding protein 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1352787	D	RGD:11554173	20190702	CTD		CTD Direct Evidence: marker/mechanism	PMID:29793971
1303073	Xbp1	X-box binding protein 1	gene	DOID:9000238	Acute-On-Chronic Liver Failure		ISO	RGD:1352787	D	RGD:32716425|PMID:26234401	20200630	RGD		mRNA, protein:decreased expression:liver	
1303073	Xbp1	X-box binding protein 1	gene	DOID:9002488	Peritoneal Fibrosis	treatment	IEP		D	RGD:32733624|PMID:31836774	20200701	RGD			
1303073	Xbp1	X-box binding protein 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1352787	D	RGD:11554173	20210112	CTD		CTD Direct Evidence: marker/mechanism	PMID:30661753
1303073	Xbp1	X-box binding protein 1	gene	DOID:9006048	Major Affective Disorder 7		ISO	RGD:1352787	D	RGD:11554173	20190514	CTD		CTD Direct Evidence: marker/mechanism	
1303073	Xbp1	X-box binding protein 1	gene	DOID:9006048	Major Affective Disorder 7		ISO	RGD:1352787	D	RGD:8554872	20200310	ClinVar		ClinVar Annotator: match by term: Major affective disorder 7	
1303073	Xbp1	X-box binding protein 1	gene	DOID:9006048	Major Affective Disorder 7	susceptibility	ISO	RGD:1352787	D	RGD:7240710	20190502	OMIM			
1303073	Xbp1	X-box binding protein 1	gene	DOID:9006599	Hypertriglyceridemia	treatment	IEP		D	RGD:329955565|PMID:26394137	20230717	RGD			
1303073	Xbp1	X-box binding protein 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1332312	D	RGD:2326004|PMID:15486293	20100616	RGD			
1303073	Xbp1	X-box binding protein 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1352787	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:27325692
1303073	Xbp1	X-box binding protein 1	gene	DOID:9007692	Insulin Resistance	treatment	IEP		D	RGD:329955565|PMID:26394137	20230717	RGD			
1303073	Xbp1	X-box binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303073	Xbp1	X-box binding protein 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1352787	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097666
1303074	Edem2	ER degradation enhancing alpha-mannosidase like protein 2	gene	DOID:5419	schizophrenia		ISO	RGD:1354312	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1346893	D	RGD:5686803|PMID:14688203	20120126	RGD			
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:3275	thymoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:3770	pulmonary fibrosis		IEP		D	RGD:10445835|PMID:24670792	20151204	RGD		protein:decreased expression:lung (rat)	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1346893	D	RGD:152177907|PMID:24796583	20220519	RGD		protein:increased expression:liver (human)	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:4989	pancreatitis		IEP		D	RGD:5686868|PMID:19346995	20120130	RGD		mRNA:increased expression:lung (rat)	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1346893	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:767	muscular atrophy		IEP		D	RGD:5686383|PMID:21639837	20120120	RGD		mRNA:decreased expression:soleus muscle (rat)	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:10445836|PMID:24499940	20151204	RGD		protein:decreased expression:spinal cord (rat)	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1346893	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17566973
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:9007456	Female Infertility		ISO	RGD:1346893	D	RGD:10445839|PMID:19022436	20151204	RGD			
1303075	Hsp90ab1	heat shock protein 90 alpha family class B member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303076	Sh2d2a	SH2 domain containing 2A	gene	DOID:0080600	COVID-19		ISO	RGD:1345635	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1303076	Sh2d2a	SH2 domain containing 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1345635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303076	Sh2d2a	SH2 domain containing 2A	gene	DOID:1909	melanoma		ISO	RGD:1345635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303076	Sh2d2a	SH2 domain containing 2A	gene	DOID:2377	multiple sclerosis		ISO	RGD:1345635	D	RGD:1358573|PMID:11528519	19990101	RGD		DNA:repeat:promoter:-341(GA)13-33 (human)	
1303076	Sh2d2a	SH2 domain containing 2A	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:1345635	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter	PMID:18554728|REF_RGD_ID:2298871
1303076	Sh2d2a	SH2 domain containing 2A	gene	DOID:3275	thymoma		ISO	RGD:1345635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303076	Sh2d2a	SH2 domain containing 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303076	Sh2d2a	SH2 domain containing 2A	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1345635	D	RGD:2298870|PMID:15129233	20080729	RGD			
1303076	Sh2d2a	SH2 domain containing 2A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303076	Sh2d2a	SH2 domain containing 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303076	Sh2d2a	SH2 domain containing 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303078	Krt76	keratin 76	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303078	Krt76	keratin 76	gene	DOID:1115	sarcoma		ISO	RGD:1605387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303078	Krt76	keratin 76	gene	DOID:4362	cervical cancer		ISO	RGD:1605387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303078	Krt76	keratin 76	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303078	Krt76	keratin 76	gene	DOID:5041	esophageal cancer		ISO	RGD:1605387	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303079	Amigo1	adhesion molecule with Ig like domain 1	gene	DOID:5419	schizophrenia		ISO	RGD:1552604	D	RGD:11536055|PMID:26240432	20190221	RGD			
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:0080855	Parkinsonism		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:0090112	Nasu-Hakola disease		ISO	RGD:1351113	D	RGD:11554173	20200211	CTD		CTD Direct Evidence: marker/mechanism	PMID:17430113
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:0090112	Nasu-Hakola disease		ISO	RGD:1351113	D	RGD:7240710	20130221	OMIM			
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:0090112	Nasu-Hakola disease		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 | ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | ClinVar Annotator: match by term: TYROBP-related condition	PMID:10888890|PMID:11109371|PMID:12370476|PMID:17125796|PMID:25741868|PMID:27658901|PMID:28492532|PMID:28620717|PMID:28716534|PMID:31996268|PMID:36133075
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:0090112	Nasu-Hakola disease		ISS	RGD:1624060	D	RGD:13592920	20230718	MouseDO		OMIM:221770	
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:1307	dementia		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:409	liver disease		ISO	RGD:1351113	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12651611
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:630	genetic disease		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:7148	rheumatoid arthritis	treatment	IEP		D	RGD:127229930|PMID:27049384	20210603	RGD			
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:9000495	Tremor		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Action tremor	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:9000831	Hypokinesia		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351113	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:9008023	Memory Disorders		ISO	RGD:1351113	D	RGD:8554872	20240402	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
1303081	Tyrobp	transmembrane immune signaling adaptor Tyrobp	gene	DOID:9009089	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly	
1303082	Fcar	Fc alpha receptor	gene	DOID:0050855	renal fibrosis		ISO	RGD:1344251	D	RGD:7242172|PMID:18250479	20130327	RGD			
1303082	Fcar	Fc alpha receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303082	Fcar	Fc alpha receptor	gene	DOID:10534	stomach cancer		ISO	RGD:1344251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303082	Fcar	Fc alpha receptor	gene	DOID:12132	granulomatosis with polyangiitis		ISO	RGD:1344251	D	RGD:7242064|PMID:22147912	20130326	RGD			
1303082	Fcar	Fc alpha receptor	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1344251	D	RGD:7242063|PMID:22451718	20130326	RGD			
1303082	Fcar	Fc alpha receptor	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1344251	D	RGD:7242167|PMID:21985370	20130327	RGD			
1303082	Fcar	Fc alpha receptor	gene	DOID:3070	high grade glioma		ISO	RGD:1344251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303082	Fcar	Fc alpha receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:1344251	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303082	Fcar	Fc alpha receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303084	Pbx2	PBX homeobox 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303084	Pbx2	PBX homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303084	Pbx2	PBX homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350680	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303084	Pbx2	PBX homeobox 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303084	Pbx2	PBX homeobox 2	gene	DOID:1115	sarcoma		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303084	Pbx2	PBX homeobox 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303084	Pbx2	PBX homeobox 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303084	Pbx2	PBX homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350680	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303084	Pbx2	PBX homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303084	Pbx2	PBX homeobox 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303084	Pbx2	PBX homeobox 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303084	Pbx2	PBX homeobox 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:1115	sarcoma		ISO	RGD:1353107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1353107	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:1324	lung cancer		ISO	RGD:1353107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:1909	melanoma		ISO	RGD:1353107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:3275	thymoma		ISO	RGD:1353107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:4362	cervical cancer		ISO	RGD:1353107	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303085	Nop53	NOP53 ribosome biogenesis factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1353107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:0050554	X-linked sideroblastic anemia with ataxia		ISO	RGD:1351480	D	RGD:11038734|PMID:11050011	20160223	RGD		DNA:missense mutation:exon:p.E433K (1305G>A) (human)	
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:0050554	X-linked sideroblastic anemia with ataxia		ISO	RGD:1351480	D	RGD:11038735|PMID:11843825	20160223	RGD		DNA:missense mutation:exon:p.V411L (1299G>C) (human)	
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:0050554	X-linked sideroblastic anemia with ataxia		ISO	RGD:1351480	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21326867
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:0050554	X-linked sideroblastic anemia with ataxia		ISO	RGD:1351480	D	RGD:7240710	20130221	OMIM			
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:0050554	X-linked sideroblastic anemia with ataxia		ISO	RGD:1351480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH OR WITHOUT SIDEROBLASTIC ANEMIA | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia	PMID:10196363|PMID:16467350|PMID:17576681|PMID:22398176|PMID:25741868|PMID:28492532|PMID:34354969|PMID:9536098
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:0050554	X-linked sideroblastic anemia with ataxia	susceptibility	ISO	RGD:1351480	D	RGD:1598600|PMID:10196363	20061206	RGD		DNA:missense mutation: :p.I400M (human)	
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:0070113	Niemann-Pick disease type C1		ISO	RGD:1351480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM	PMID:10196363
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:3070	high grade glioma		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1351480	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:630	genetic disease		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1351480	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1351480	D	RGD:11038732|PMID:18398482	20160223	RGD			
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1351480	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16892088|PMID:18637800
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:9004866	Ataxia		ISO	RGD:1351480	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16892088
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:26242992
1303086	Abcb7	ATP binding cassette subfamily B member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303087	Wfdc9	WAP four-disulfide core domain 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303089	Gsn	gelsolin	gene	DOID:0050637	Finnish type amyloidosis		ISO	RGD:1346375	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303089	Gsn	gelsolin	gene	DOID:0050637	Finnish type amyloidosis		ISO	RGD:1346375	D	RGD:7240710	20130221	OMIM			
1303089	Gsn	gelsolin	gene	DOID:0050637	Finnish type amyloidosis		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AMYLOIDOSIS, FINNISH TYPE | ClinVar Annotator: match by term: Amyloidosis 5 | ClinVar Annotator: match by term: Finnish type amyloidosis | ClinVar Annotator: match by term: GSN-related condition	PMID:1338910|PMID:16199547|PMID:1652889|PMID:17576681|PMID:2176164|PMID:22622774|PMID:24601799|PMID:25342098|PMID:25741868|PMID:26915616|PMID:27633054|PMID:28492532|PMID:33499149|PMID:33973672|PMID:9536098
1303089	Gsn	gelsolin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1303089	Gsn	gelsolin	gene	DOID:0060224	atrial fibrillation	disease_progression	ISO	RGD:1550660	D	RGD:329333016|PMID:19669398	20230426	RGD			
1303089	Gsn	gelsolin	gene	DOID:10534	stomach cancer		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303089	Gsn	gelsolin	gene	DOID:10591	pre-eclampsia	disease_progression	ISO	RGD:1346375	D	RGD:329337339|PMID:24239294	20230427	RGD		protein:decreased expression:blood plasma (human)	
1303089	Gsn	gelsolin	gene	DOID:1115	sarcoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303089	Gsn	gelsolin	gene	DOID:11476	osteoporosis		ISO	RGD:1346375	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
1303089	Gsn	gelsolin	gene	DOID:1459	hypothyroidism		IEP		D	RGD:1599872|PMID:2848627	20070219	RGD		Protein:increased expression:cochlea	
1303089	Gsn	gelsolin	gene	DOID:3070	high grade glioma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303089	Gsn	gelsolin	gene	DOID:3275	thymoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1303089	Gsn	gelsolin	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1550660	D	RGD:329333031|PMID:18234195	20230426	RGD			
1303089	Gsn	gelsolin	gene	DOID:3525	middle cerebral artery infarction	ameliorates	ISO	RGD:1550660	D	RGD:329333033|PMID:9927495	20230426	RGD			
1303089	Gsn	gelsolin	gene	DOID:3526	cerebral infarction	severity	ISO	RGD:1346375	D	RGD:329337334|PMID:21481565	20230427	RGD		protein:decreased expression:blood plasma (human)	
1303089	Gsn	gelsolin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1303089	Gsn	gelsolin	gene	DOID:5041	esophageal cancer		ISO	RGD:1346375	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303089	Gsn	gelsolin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303089	Gsn	gelsolin	gene	DOID:5844	myocardial infarction		ISO	RGD:1346375	D	RGD:329333022|PMID:9142022	20230426	RGD		protein:decreased expression:blood serum (human)	
1303089	Gsn	gelsolin	gene	DOID:5844	myocardial infarction	ameliorates	IEP		D	RGD:329333030|PMID:28622474	20230426	RGD			
1303089	Gsn	gelsolin	gene	DOID:60001	pulmonary artery disease	severity	ISO	RGD:1550660	D	RGD:329333024|PMID:12654637	20230426	RGD		associated with ischemia	
1303089	Gsn	gelsolin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1303089	Gsn	gelsolin	gene	DOID:630	genetic disease		ISO	RGD:1346375	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:14640038|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1848334|PMID:2153578|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28166811|PMID:28492532|PMID:28924445|PMID:29167514|PMID:29637772|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:9536098
1303089	Gsn	gelsolin	gene	DOID:630	genetic disease		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32368002
1303089	Gsn	gelsolin	gene	DOID:8481	rheumatic myocarditis		ISO	RGD:1346375	D	RGD:329333026|PMID:25403731	20230426	RGD		protein:decreased expression:blood plasma (human)	
1303089	Gsn	gelsolin	gene	DOID:850	lung disease		IEP		D	RGD:1599873|PMID:2829631	20070219	RGD		Protein:increased expression:plasma	
1303089	Gsn	gelsolin	gene	DOID:9000438	Subarachnoid Hemorrhage	disease_progression	IEP		D	RGD:11055426|PMID:25744577	20230425	RGD		mRNA, protein:altered expression:cerebral cortex (rat)	
1303089	Gsn	gelsolin	gene	DOID:9000438	Subarachnoid Hemorrhage	severity	ISO	RGD:1346375	D	RGD:329333027|PMID:23880145	20230426	RGD		protein:decreased expression:blood plasma (human)	
1303089	Gsn	gelsolin	gene	DOID:9000815	Aortic Calcification	disease_progression	ISO	RGD:1346375	D	RGD:329336117|PMID:26941566	20230427	RGD		protein:decreased expression:blood (human)	
1303089	Gsn	gelsolin	gene	DOID:9000895	Preterm Intraventricular Hemorrhage		ISO	RGD:1550660	D	RGD:329337382|PMID:28755273	20230502	RGD		protein:decreased expression:blood plasma (human)	
1303089	Gsn	gelsolin	gene	DOID:9000998	Brain Injuries		IEP		D	RGD:1599864|PMID:14588109	20070219	RGD			
1303089	Gsn	gelsolin	gene	DOID:9001573	Experimental Liver Cirrhosis		IEP		D	RGD:1599866|PMID:14574581	20070219	RGD		mRNA, protein:increased expression	
1303089	Gsn	gelsolin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346375	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303089	Gsn	gelsolin	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1346375	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
1303089	Gsn	gelsolin	gene	DOID:9002599	Basal Ganglia Hemorrhage	severity	ISO	RGD:1346375	D	RGD:329333032|PMID:23142649	20230426	RGD		protein:decreased expression:blood plasma (human)	
1303089	Gsn	gelsolin	gene	DOID:9003121	Thromboembolism	ameliorates	ISO	RGD:1346375	D	RGD:329333020|PMID:31002695	20230426	RGD		human gene in mouse model	
1303089	Gsn	gelsolin	gene	DOID:9003565	Paratuberculosis		ISO	RGD:1346375	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22633222
1303089	Gsn	gelsolin	gene	DOID:9003566	Mesothelioma		ISO	RGD:1346375	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15920167
1303089	Gsn	gelsolin	gene	DOID:9003646	Arterial Thrombosis	ameliorates	ISO	RGD:1346375	D	RGD:329333020|PMID:31002695	20230426	RGD		human gene in mouse model	
1303089	Gsn	gelsolin	gene	DOID:9003676	Brain Hypoxia-Ischemia	severity	ISO	RGD:1346375	D	RGD:329333029|PMID:29466895	20230426	RGD		protein:decreased expression:blood plasma (human)	
1303089	Gsn	gelsolin	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1346375	D	RGD:11554173	20190409	CTD		CTD Direct Evidence: marker/mechanism	PMID:30240538
1303089	Gsn	gelsolin	gene	DOID:9003936	Cardiomegaly	treatment	IEP		D	RGD:329333015|PMID:30240538	20230426	RGD			
1303089	Gsn	gelsolin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303089	Gsn	gelsolin	gene	DOID:9004484	Sepsis		ISO	RGD:1346375	D	RGD:329333022|PMID:9142022	20230426	RGD		protein:decreased expression:blood serum (human)	
1303089	Gsn	gelsolin	gene	DOID:9004492	Familial Amyloidosis		ISO	RGD:1346375	D	RGD:1599858|PMID:2175344	20070219	RGD		DNA:point mutation: ;654G>A	
1303089	Gsn	gelsolin	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1346375	D	RGD:329333022|PMID:9142022	20230426	RGD		protein:decreased expression:blood serum (human)	
1303089	Gsn	gelsolin	gene	DOID:9004657	Weight Gain		ISO	RGD:1346375	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1303089	Gsn	gelsolin	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1303089	Gsn	gelsolin	gene	DOID:9005233	Experimental Mammary Neoplasms		IEP		D	RGD:1599869|PMID:8895730	20070219	RGD		mRNA:decreased expression	
1303089	Gsn	gelsolin	gene	DOID:9006646	Metabolic Syndrome	severity	ISO	RGD:1550660	D	RGD:329333017|PMID:29684438	20230426	RGD			
1303089	Gsn	gelsolin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303089	Gsn	gelsolin	gene	DOID:9007174	Ventricular Remodeling	ameliorates	ISO	RGD:1550660	D	RGD:329333014|PMID:19246681	20230426	RGD			
1303089	Gsn	gelsolin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1346375	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16099942
1303089	Gsn	gelsolin	gene	DOID:9008652	Postoperative Atrial Fibrillation	susceptibility	ISO	RGD:1346375	D	RGD:329337380|PMID:27923400	20230502	RGD		DNA:SNP:: (rs2230287) (human)	
1303089	Gsn	gelsolin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1303089	Gsn	gelsolin	gene	DOID:9159	gas gangrene		ISO	RGD:1346375	D	RGD:329333022|PMID:9142022	20230426	RGD		protein:decreased expression:blood serum (human)	
1303089	Gsn	gelsolin	gene	DOID:9256	colorectal cancer		ISO	RGD:1346375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1303091	Kcnk18	potassium two pore domain channel subfamily K member 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303091	Kcnk18	potassium two pore domain channel subfamily K member 18	gene	DOID:6364	migraine		ISO	RGD:1346775	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: KCNK18-related condition | ClinVar Annotator: match by term: Migraine, with or without aura, susceptibility to, 13 | ClinVar Annotator: match by term: migraine, with or without aura, susceptibility to, 13	PMID:20871611|PMID:25741868|PMID:28492532|PMID:30573346
1303091	Kcnk18	potassium two pore domain channel subfamily K member 18	gene	DOID:6364	migraine	susceptibility	ISO	RGD:1346775	D	RGD:7240710	20220216	OMIM			
1303093	Tmem35a	transmembrane protein 35A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303093	Tmem35a	transmembrane protein 35A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:1115	sarcoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:1324	lung cancer		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:1909	melanoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:3275	thymoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349528	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:9002189	High Myopia		ISO	RGD:1349528	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303094	Ablim2	actin binding LIM protein family, member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303096	Fut8	fucosyltransferase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303096	Fut8	fucosyltransferase 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303096	Fut8	fucosyltransferase 8	gene	DOID:1324	lung cancer		ISO	RGD:1344316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303096	Fut8	fucosyltransferase 8	gene	DOID:1909	melanoma		ISO	RGD:1344316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303096	Fut8	fucosyltransferase 8	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1344316	D	RGD:645122522|PMID:29228607	20260407	RGD		mRNA, protein:increased expression:lung	
1303096	Fut8	fucosyltransferase 8	gene	DOID:4362	cervical cancer		ISO	RGD:1344316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303096	Fut8	fucosyltransferase 8	gene	DOID:630	genetic disease		ISO	RGD:1344316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1303096	Fut8	fucosyltransferase 8	gene	DOID:9003434	Congenital Disorder of Glycosylation with Defective Fucosylation 1		ISO	RGD:1344316	D	RGD:7240710	20190315	OMIM			
1303096	Fut8	fucosyltransferase 8	gene	DOID:9003434	Congenital Disorder of Glycosylation with Defective Fucosylation 1		ISO	RGD:1344316	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 | ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 1 | ClinVar Annotator: match by term: FUT8-related condition	PMID:24033266|PMID:25741868|PMID:28492532|PMID:29304374|PMID:32049367
1303096	Fut8	fucosyltransferase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303096	Fut8	fucosyltransferase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303096	Fut8	fucosyltransferase 8	gene	DOID:9675	pulmonary emphysema		ISS	RGD:1550689	D	RGD:13592920	20180518	MouseDO		OMIM:130700	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351553	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:1115	sarcoma		ISO	RGD:1351553	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:1324	lung cancer		ISO	RGD:1351553	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:1909	melanoma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351553	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:1351553	D	RGD:2307362|PMID:14764791	20090528	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303097	Gfpt2	glutamine-fructose-6-phosphate transaminase 2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1351553	D	RGD:2307362|PMID:14764791	20090528	RGD		DNA:missense mutation, SNPs:exon, 3' utr:multiple	
1303098	Cpa5	carboxypeptidase A5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303098	Cpa5	carboxypeptidase A5	gene	DOID:10534	stomach cancer		ISO	RGD:1345322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303098	Cpa5	carboxypeptidase A5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303098	Cpa5	carboxypeptidase A5	gene	DOID:5041	esophageal cancer		ISO	RGD:1345322	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303098	Cpa5	carboxypeptidase A5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303098	Cpa5	carboxypeptidase A5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303099	Rasl11b	RAS-like family 11 member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303100	Cntfr	ciliary neurotrophic factor receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303100	Cntfr	ciliary neurotrophic factor receptor	gene	DOID:10283	prostate cancer		ISO	RGD:1344115	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1303100	Cntfr	ciliary neurotrophic factor receptor	gene	DOID:10283	prostate cancer		ISO	RGD:1344115	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1303101	Ly6g5b	lymphocyte antigen 6 family member G5B	gene	DOID:10534	stomach cancer		ISO	RGD:1349012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303101	Ly6g5b	lymphocyte antigen 6 family member G5B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303101	Ly6g5b	lymphocyte antigen 6 family member G5B	gene	DOID:1115	sarcoma		ISO	RGD:1349012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303103	Snu13	small nuclear ribonucleoprotein 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303103	Snu13	small nuclear ribonucleoprotein 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303103	Snu13	small nuclear ribonucleoprotein 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:0051061	stroke		ISO	RGD:1604306	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16549638
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:0060903	thrombosis		ISO	RGD:1604306	D	RGD:11554173	20191112	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581108
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:0080665	warfarin resistance		ISO	RGD:1604306	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:14765194|PMID:20210733|PMID:20386359|PMID:20497562|PMID:20579077
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:0080665	warfarin resistance		ISO	RGD:1604306	D	RGD:7240710	20130221	OMIM			
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:0080665	warfarin resistance		ISO	RGD:1604306	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: WARFARIN RESISTANCE	
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:0080666	warfarin sensitivity		IAGP		D	RGD:1303972|PMID:14765194	20180627	RGD		DNA:missense mutation: :p.Y139C (416A>G) (rat)	
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:0112174	combined deficiency of vitamin K-dependent clotting factors 2		ISO	RGD:1604306	D	RGD:1303972|PMID:14765194	20180627	RGD		DNA:missense mutation: :p.R98W (human)	
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:0112174	combined deficiency of vitamin K-dependent clotting factors 2		ISO	RGD:1604306	D	RGD:7240710	20160113	OMIM			
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:0112174	combined deficiency of vitamin K-dependent clotting factors 2		ISO	RGD:1604306	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 | ClinVar Annotator: match by term: VKORC1-related condition | ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, type 2	PMID:14765194|PMID:15358623|PMID:15883587|PMID:16270629|PMID:16270630|PMID:16611750|PMID:16676068|PMID:16879214|PMID:16890578|PMID:17049586|PMID:17189218|PMID:18466099|PMID:19344422|PMID:20128861|PMID:20653676|PMID:21127708|PMID:21326313|PMID:21635147|PMID:22349464|PMID:22992668|PMID:23039877|PMID:23208322|PMID:23990957|PMID:24019055|PMID:24838629|PMID:25084205|PMID:25126975|PMID:25594941|PMID:25741868|PMID:28492532
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:1247	blood coagulation disease		ISO	RGD:1604306	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19141161
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:178	vascular disease		ISO	RGD:1604306	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16549638
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:1604306	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16549638
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:9000815	Aortic Calcification	susceptibility	IAGP		D	RGD:2315841|PMID:19884975	20100113	RGD		DNA:missense mutation: :p.Y139C (416A>G) (rat)	
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:9004080	Aortic Rupture		ISO	RGD:1604306	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16549638
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1604306	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26445138
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:9008217	Hemorrhage		ISO	RGD:1604306	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20597268|PMID:26445138
1303107	Vkorc1	vitamin K epoxide reductase complex, subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303108	Ankra2	ankyrin repeat family A member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303108	Ankra2	ankyrin repeat family A member 2	gene	DOID:1909	melanoma		ISO	RGD:1347651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303108	Ankra2	ankyrin repeat family A member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303108	Ankra2	ankyrin repeat family A member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347651	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303108	Ankra2	ankyrin repeat family A member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303111	Rtca	RNA 3'-terminal phosphate cyclase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303111	Rtca	RNA 3'-terminal phosphate cyclase	gene	DOID:10534	stomach cancer		ISO	RGD:1344520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303111	Rtca	RNA 3'-terminal phosphate cyclase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303111	Rtca	RNA 3'-terminal phosphate cyclase	gene	DOID:1115	sarcoma		ISO	RGD:1344520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303111	Rtca	RNA 3'-terminal phosphate cyclase	gene	DOID:1324	lung cancer		ISO	RGD:1344520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303111	Rtca	RNA 3'-terminal phosphate cyclase	gene	DOID:1909	melanoma		ISO	RGD:1344520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303111	Rtca	RNA 3'-terminal phosphate cyclase	gene	DOID:3275	thymoma		ISO	RGD:1344520	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303111	Rtca	RNA 3'-terminal phosphate cyclase	gene	DOID:4362	cervical cancer		ISO	RGD:1344520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303111	Rtca	RNA 3'-terminal phosphate cyclase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303111	Rtca	RNA 3'-terminal phosphate cyclase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303111	Rtca	RNA 3'-terminal phosphate cyclase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1303111	Rtca	RNA 3'-terminal phosphate cyclase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303111	Rtca	RNA 3'-terminal phosphate cyclase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303111	Rtca	RNA 3'-terminal phosphate cyclase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303113	Syap1	synapse associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303113	Syap1	synapse associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303113	Syap1	synapse associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303113	Syap1	synapse associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303113	Syap1	synapse associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303113	Syap1	synapse associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303113	Syap1	synapse associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303114	Polr1h	RNA polymerase I subunit H	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1351679	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16609701
1303114	Polr1h	RNA polymerase I subunit H	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1351679	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16609701
1303115	Trim39	tripartite motif-containing 39	gene	DOID:1324	lung cancer		ISO	RGD:1345253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303115	Trim39	tripartite motif-containing 39	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303116	Plppr1	phospholipid phosphatase related 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303116	Plppr1	phospholipid phosphatase related 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303116	Plppr1	phospholipid phosphatase related 1	gene	DOID:11832	visual epilepsy		ISO	RGD:1603210	D	RGD:11554173	20260106	CTD		CTD Direct Evidence: marker/mechanism	PMID:23266720
1303116	Plppr1	phospholipid phosphatase related 1	gene	DOID:3275	thymoma		ISO	RGD:1603210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303116	Plppr1	phospholipid phosphatase related 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303116	Plppr1	phospholipid phosphatase related 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303117	Fam98c	family with sequence similarity 98, member C	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1604231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	
1303117	Fam98c	family with sequence similarity 98, member C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604231	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1303117	Fam98c	family with sequence similarity 98, member C	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1604231	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorders	
1303117	Fam98c	family with sequence similarity 98, member C	gene	DOID:10534	stomach cancer		ISO	RGD:1604231	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1303117	Fam98c	family with sequence similarity 98, member C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303117	Fam98c	family with sequence similarity 98, member C	gene	DOID:1148	polydactyly		ISO	RGD:1604231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	
1303117	Fam98c	family with sequence similarity 98, member C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604231	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1303117	Fam98c	family with sequence similarity 98, member C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303117	Fam98c	family with sequence similarity 98, member C	gene	DOID:4362	cervical cancer		ISO	RGD:1604231	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1303117	Fam98c	family with sequence similarity 98, member C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604231	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1303117	Fam98c	family with sequence similarity 98, member C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604231	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1303117	Fam98c	family with sequence similarity 98, member C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604231	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1303117	Fam98c	family with sequence similarity 98, member C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303118	Lrrc36	leucine rich repeat containing 36	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303118	Lrrc36	leucine rich repeat containing 36	gene	DOID:1115	sarcoma		ISO	RGD:1605363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303118	Lrrc36	leucine rich repeat containing 36	gene	DOID:1324	lung cancer		ISO	RGD:1605363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303118	Lrrc36	leucine rich repeat containing 36	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303118	Lrrc36	leucine rich repeat containing 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303118	Lrrc36	leucine rich repeat containing 36	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303118	Lrrc36	leucine rich repeat containing 36	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:0110064	amelogenesis imperfecta type 1H		ISO	RGD:1346382	D	RGD:7240710	20170802	OMIM			
1303119	Itgb6	integrin subunit beta 6	gene	DOID:0110064	amelogenesis imperfecta type 1H		ISO	RGD:1346382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IH | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IH | ClinVar Annotator: match by term: ITGB6-related condition	PMID:14970781|PMID:16838342|PMID:24319098|PMID:25741868|PMID:28492532|PMID:9189626
1303119	Itgb6	integrin subunit beta 6	gene	DOID:10283	prostate cancer		ISO	RGD:1346382	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1303119	Itgb6	integrin subunit beta 6	gene	DOID:10283	prostate cancer		ISO	RGD:1346382	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:10534	stomach cancer		ISO	RGD:1346382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:10907	microcephaly		ISO	RGD:1346382	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1303119	Itgb6	integrin subunit beta 6	gene	DOID:1115	sarcoma		ISO	RGD:1346382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:1324	lung cancer		ISO	RGD:1346382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1346382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:2841	asthma		ISS	RGD:1552765	D	RGD:13592920	20180518	MouseDO		OMIM:600807	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:3275	thymoma		ISO	RGD:1346382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:409	liver disease		ISO	RGD:1346382	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:18221819
1303119	Itgb6	integrin subunit beta 6	gene	DOID:417	autoimmune disease		ISO	RGD:1346382	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:25055964
1303119	Itgb6	integrin subunit beta 6	gene	DOID:4362	cervical cancer		ISO	RGD:1346382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1346382	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:5082	liver cirrhosis	disease_progression	ISO	RGD:1346382	D	RGD:2302245|PMID:18221819	20081205	RGD		associated with Hepatitis C, Chronic;mRNA:increased expression:liver	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:630	genetic disease		ISO	RGD:1346382	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:9001573	Experimental Liver Cirrhosis		IMP		D	RGD:2302244|PMID:18538673	20081205	RGD		mRNA, protein:increased expression:liver	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346382	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:18221819
1303119	Itgb6	integrin subunit beta 6	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1346382	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1303119	Itgb6	integrin subunit beta 6	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1346382	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:18221819
1303119	Itgb6	integrin subunit beta 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303119	Itgb6	integrin subunit beta 6	gene	DOID:9446	cholangitis		ISO	RGD:1346382	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:25055964
1303119	Itgb6	integrin subunit beta 6	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1346382	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:12634787
1303119	Itgb6	integrin subunit beta 6	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1552765	D	RGD:737734|PMID:12634787	19990101	RGD			
1303119	Itgb6	integrin subunit beta 6	gene	DOID:9675	pulmonary emphysema		ISS	RGD:1552765	D	RGD:13592920	20230718	MouseDO		OMIM:130700	
1303120	Tacc1	transforming, acidic coiled-coil containing protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303120	Tacc1	transforming, acidic coiled-coil containing protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1342908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303120	Tacc1	transforming, acidic coiled-coil containing protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1342908	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1303120	Tacc1	transforming, acidic coiled-coil containing protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342908	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303120	Tacc1	transforming, acidic coiled-coil containing protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303120	Tacc1	transforming, acidic coiled-coil containing protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303120	Tacc1	transforming, acidic coiled-coil containing protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303120	Tacc1	transforming, acidic coiled-coil containing protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303121	Txndc8	thioredoxin domain containing 8	gene	DOID:12336	male infertility		ISO	RGD:1345541	D	RGD:1303999|PMID:15181017	19990101	RGD		protein:increased expression:sperm (human)	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050562	West syndrome		ISO	RGD:1346332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868|PMID:27502409|PMID:28492532|PMID:29314548|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34484863|PMID:38465286|PMID:38703036|PMID:38752301
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111474	combined oxidative phosphorylation deficiency 1		ISO	RGD:1346332	D	RGD:8554872	20181206	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111478	combined oxidative phosphorylation deficiency 20		ISO	RGD:1346332	D	RGD:7240710	20170301	OMIM			
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111478	combined oxidative phosphorylation deficiency 20		ISO	RGD:1346332	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 | ClinVar Annotator: match by term: VARS2-related condition | ClinVar Annotator: match by term: VARS2-related disorders	PMID:25741868|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34484863|PMID:38465286|PMID:38703036|PMID:38752301
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:1059	intellectual disability		ISO	RGD:1346332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:29313548|PMID:29314548|PMID:30458719
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:10892	hypospadias		ISO	RGD:1346332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868|PMID:27502409|PMID:28492532|PMID:29314548|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34484863|PMID:38465286|PMID:38703036|PMID:38752301
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:11111	hydronephrosis		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:11162	respiratory failure		ISO	RGD:1346332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868|PMID:27502409|PMID:28492532|PMID:29314548|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34484863|PMID:38465286|PMID:38703036|PMID:38752301
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:11383	cryptorchidism		ISO	RGD:1346332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Unilateral cryptorchidism	PMID:25741868|PMID:27502409|PMID:28492532|PMID:29314548|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34484863|PMID:38465286|PMID:38703036|PMID:38752301
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:11714	gestational diabetes		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:12849	autistic disorder		ISO	RGD:1346332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:27502409|PMID:28492532|PMID:29314548|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34484863|PMID:38465286|PMID:38703036|PMID:38752301
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:1596	depressive disorder		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depressivity	PMID:28492532|PMID:31529142|PMID:32342562|PMID:36157797
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:2340	craniosynostosis		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:3650	lactic acidosis		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:4702	mongolian spot		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1346332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34362006|PMID:34484863|PMID:38465286|PMID:38703036|PMID:38752301
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1346332	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:850	lung disease		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34362006|PMID:34484863|PMID:38465286|PMID:38703036|PMID:38752301
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003132	Sialorrhea		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003133	Hypertelorism		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003507	Premature Birth		ISO	RGD:1346332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:27502409|PMID:28492532|PMID:29314548|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34484863|PMID:38465286|PMID:38703036|PMID:38752301
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1346332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:25741868|PMID:27502409|PMID:28492532|PMID:29314548|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34484863|PMID:38465286|PMID:38703036|PMID:38752301
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:27502409|PMID:28492532|PMID:29314548|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34484863|PMID:38465286|PMID:38703036|PMID:38752301
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:16199547|PMID:25741868|PMID:28492532|PMID:29313548|PMID:29314548
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9007661	Dwarfism		ISO	RGD:1346332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34362006|PMID:34484863|PMID:38465286|PMID:38703036|PMID:38752301
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9007722	Myoclonus		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1303122	Vars2	valyl-tRNA synthetase 2, mitochondrial	gene	DOID:936	brain disease		ISO	RGD:1346332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:34362006
1303123	Apold1	apolipoprotein L domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303123	Apold1	apolipoprotein L domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303123	Apold1	apolipoprotein L domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303123	Apold1	apolipoprotein L domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303123	Apold1	apolipoprotein L domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303123	Apold1	apolipoprotein L domain containing 1	gene	DOID:9008123	Bleeding Disorder, Vascular-Type		ISO	RGD:1604585	D	RGD:7240710	20240221	OMIM			
1303123	Apold1	apolipoprotein L domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303123	Apold1	apolipoprotein L domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303125	Mucl3	mucin like 3	gene	DOID:9007425	Diffuse Panbronchiolitis		ISO	RGD:1346376	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22152429
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:0060861	microphthalmia with limb anomalies		ISO	RGD:1348217	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:0060861	microphthalmia with limb anomalies		ISO	RGD:1348217	D	RGD:7240710	20141015	OMIM			
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:0060861	microphthalmia with limb anomalies		ISO	RGD:1348217	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microphthalmia with limb anomalies | ClinVar Annotator: match by term: Ophthalmoacromelic syndrome | ClinVar Annotator: match by term: SMOC1-related condition	PMID:16199547|PMID:21194678|PMID:21194680|PMID:21750680|PMID:23646827|PMID:25741868|PMID:28085523|PMID:28492532|PMID:31067494
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:0060861	microphthalmia with limb anomalies		ISS	RGD:1552814	D	RGD:13592920	20230718	MouseDO		OMIM:206920	
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:10629	microphthalmia		ISO	RGD:1348217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:21194678|PMID:21750680|PMID:28492532|PMID:31067494
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:1115	sarcoma		ISO	RGD:1348217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:1909	melanoma		ISO	RGD:1348217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:630	genetic disease		ISO	RGD:1348217	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348217	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303126	Smoc1	SPARC related modular calcium binding 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303127	Kansl2	KAT8 regulatory NSL complex subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303127	Kansl2	KAT8 regulatory NSL complex subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:1606280	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1303127	Kansl2	KAT8 regulatory NSL complex subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1606280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303127	Kansl2	KAT8 regulatory NSL complex subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303127	Kansl2	KAT8 regulatory NSL complex subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1606280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303127	Kansl2	KAT8 regulatory NSL complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303127	Kansl2	KAT8 regulatory NSL complex subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606280	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303127	Kansl2	KAT8 regulatory NSL complex subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303127	Kansl2	KAT8 regulatory NSL complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303127	Kansl2	KAT8 regulatory NSL complex subunit 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1606280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1303127	Kansl2	KAT8 regulatory NSL complex subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303127	Kansl2	KAT8 regulatory NSL complex subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303129	Selenok	selenoprotein K	gene	DOID:1324	lung cancer		ISO	RGD:1603383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303129	Selenok	selenoprotein K	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1303129	Selenok	selenoprotein K	gene	DOID:5041	esophageal cancer		ISO	RGD:1603383	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303129	Selenok	selenoprotein K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303129	Selenok	selenoprotein K	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303130	Glmp	glycosylated lysosomal membrane protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303130	Glmp	glycosylated lysosomal membrane protein	gene	DOID:0080600	COVID-19		ISO	RGD:1602078	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1303130	Glmp	glycosylated lysosomal membrane protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303130	Glmp	glycosylated lysosomal membrane protein	gene	DOID:1115	sarcoma		ISO	RGD:1602078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303130	Glmp	glycosylated lysosomal membrane protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303130	Glmp	glycosylated lysosomal membrane protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303130	Glmp	glycosylated lysosomal membrane protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1303130	Glmp	glycosylated lysosomal membrane protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303130	Glmp	glycosylated lysosomal membrane protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303131	Ncam2	neural cell adhesion molecule 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303131	Ncam2	neural cell adhesion molecule 2	gene	DOID:10534	stomach cancer		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303131	Ncam2	neural cell adhesion molecule 2	gene	DOID:1115	sarcoma		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303131	Ncam2	neural cell adhesion molecule 2	gene	DOID:12849	autistic disorder		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1303131	Ncam2	neural cell adhesion molecule 2	gene	DOID:13938	amenorrhea		ISO	RGD:1342930	D	RGD:8554872	20190416	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
1303131	Ncam2	neural cell adhesion molecule 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303131	Ncam2	neural cell adhesion molecule 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303131	Ncam2	neural cell adhesion molecule 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303131	Ncam2	neural cell adhesion molecule 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303131	Ncam2	neural cell adhesion molecule 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303131	Ncam2	neural cell adhesion molecule 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1303131	Ncam2	neural cell adhesion molecule 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0110198	Charcot-Marie-Tooth disease recessive intermediate C		ISO	RGD:1603206	D	RGD:7240710	20140911	OMIM			
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0110198	Charcot-Marie-Tooth disease recessive intermediate C		ISO	RGD:1603206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate c	PMID:16199547|PMID:17564964|PMID:17576681|PMID:23777631|PMID:23844677|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28160950|PMID:28166811|PMID:28492532|PMID:31345219|PMID:31589614|PMID:31827005|PMID:33220101|PMID:34602496|PMID:38112783|PMID:9536098
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0111213	autosomal recessive distal hereditary motor neuronopathy 4		ISO	RGD:1603206	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0111213	autosomal recessive distal hereditary motor neuronopathy 4		ISO	RGD:1603206	D	RGD:7240710	20130221	OMIM			
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0111213	autosomal recessive distal hereditary motor neuronopathy 4		ISO	RGD:1603206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset | ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 4 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 | ClinVar Annotator: match by term: PLEKHG5-related condition	PMID:16199547|PMID:17564964|PMID:17576681|PMID:23777631|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28492532|PMID:29177109|PMID:31345219|PMID:31589614|PMID:31827005|PMID:38112783|PMID:9536098
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1603206	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:1596	depressive disorder		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:2030	anxiety disorder		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1603206	D	RGD:8554872	20200407	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:2841	asthma		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:3070	high grade glioma		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:16199547|PMID:17564964|PMID:23777631|PMID:28492532
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:3275	thymoma		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:630	genetic disease		ISO	RGD:1603206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17564964|PMID:17576681|PMID:23777631|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28492532|PMID:31345219|PMID:31589614|PMID:31827005|PMID:38112783|PMID:9536098
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9000227	Hypogonadism and Testicular Atrophy		ISO	RGD:1603206	D	RGD:8554872	20230627	ClinVar		ClinVar Annotator: match by term: Testicular atrophy	PMID:25741868|PMID:26392352|PMID:28492532
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9000276	Juvenile Amyotrophic Lateral Sclerosis		ISO	RGD:1603206	D	RGD:8554872	20200728	ClinVar		ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis	PMID:25741868
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9001733	Tinnitus		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:26392352|PMID:28492532
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9003507	Premature Birth		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9004930	Spinal Muscular Atrophy, Facioscapulohumeral Type		ISO	RGD:1603206	D	RGD:8554872	20180807	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy, facioscapulohumeral type	
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9005077	Joint Instability		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9008023	Memory Disorders		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1303132	Plekhg5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9970	obesity		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1303133	Pgpep1	pyroglutamyl-peptidase I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303133	Pgpep1	pyroglutamyl-peptidase I	gene	DOID:10283	prostate cancer		ISO	RGD:1348411	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1303133	Pgpep1	pyroglutamyl-peptidase I	gene	DOID:10283	prostate cancer		ISO	RGD:1348411	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1303133	Pgpep1	pyroglutamyl-peptidase I	gene	DOID:3275	thymoma		ISO	RGD:1348411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303133	Pgpep1	pyroglutamyl-peptidase I	gene	DOID:4362	cervical cancer		ISO	RGD:1348411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303133	Pgpep1	pyroglutamyl-peptidase I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303133	Pgpep1	pyroglutamyl-peptidase I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303133	Pgpep1	pyroglutamyl-peptidase I	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:0111364	Alzheimer's disease 9		ISO	RGD:1601775	D	RGD:11554173	20190514	CTD		CTD Direct Evidence: marker/mechanism	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:0111364	Alzheimer's disease 9		ISO	RGD:1601775	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: ABCA7-related condition | ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Alzheimer disease 9	PMID:25741868|PMID:25807283|PMID:26141617|PMID:28097223|PMID:28447221|PMID:28492532|PMID:28789839|PMID:36133075|PMID:38281098
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:0111364	Alzheimer's disease 9	susceptibility	ISO	RGD:1601775	D	RGD:7240710	20190502	OMIM			
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:10534	stomach cancer		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1601775	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21460840|PMID:25807283
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1601775	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Alzheimer disease, early onset	PMID:25741868|PMID:25807283|PMID:26141617|PMID:28097223|PMID:28492532|PMID:36133075|PMID:38281098
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:1115	sarcoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:1324	lung cancer		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:1909	melanoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:3275	thymoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868|PMID:27037229|PMID:31381512|PMID:35361255
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:4362	cervical cancer		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:440	neuromuscular disease		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601775	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1601775	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:9000918	Disease Progression		ISO	RGD:1601775	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303134	Abca7	ATP binding cassette subfamily A member 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303135	Npc1l1	NPC1 like intracellular cholesterol transporter 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303135	Npc1l1	NPC1 like intracellular cholesterol transporter 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345181	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303135	Npc1l1	NPC1 like intracellular cholesterol transporter 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303135	Npc1l1	NPC1 like intracellular cholesterol transporter 1	gene	DOID:1115	sarcoma		ISO	RGD:1345181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303135	Npc1l1	NPC1 like intracellular cholesterol transporter 1	gene	DOID:1324	lung cancer		ISO	RGD:1345181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303135	Npc1l1	NPC1 like intracellular cholesterol transporter 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303135	Npc1l1	NPC1 like intracellular cholesterol transporter 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:1615659	D	RGD:1642183|PMID:17218600	20070906	RGD			
1303135	Npc1l1	NPC1 like intracellular cholesterol transporter 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303135	Npc1l1	NPC1 like intracellular cholesterol transporter 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345181	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303135	Npc1l1	NPC1 like intracellular cholesterol transporter 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303135	Npc1l1	NPC1 like intracellular cholesterol transporter 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303135	Npc1l1	NPC1 like intracellular cholesterol transporter 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1615659	D	RGD:1642184|PMID:15671032	20070906	RGD			
1303135	Npc1l1	NPC1 like intracellular cholesterol transporter 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303135	Npc1l1	NPC1 like intracellular cholesterol transporter 1	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:1642185|PMID:17292734	20070906	RGD		mRNA:increased expression:intestine, liver	
1303136	Ddx19a	DEAD-box helicase 19A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303136	Ddx19a	DEAD-box helicase 19A	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1303136	Ddx19a	DEAD-box helicase 19A	gene	DOID:10534	stomach cancer		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303136	Ddx19a	DEAD-box helicase 19A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303136	Ddx19a	DEAD-box helicase 19A	gene	DOID:1324	lung cancer		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303136	Ddx19a	DEAD-box helicase 19A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303136	Ddx19a	DEAD-box helicase 19A	gene	DOID:4362	cervical cancer		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303136	Ddx19a	DEAD-box helicase 19A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303137	Vwa7	von Willebrand factor A domain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303137	Vwa7	von Willebrand factor A domain containing 7	gene	DOID:10534	stomach cancer		ISO	RGD:1342662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303137	Vwa7	von Willebrand factor A domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1342662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303137	Vwa7	von Willebrand factor A domain containing 7	gene	DOID:1324	lung cancer		ISO	RGD:1342662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303137	Vwa7	von Willebrand factor A domain containing 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303137	Vwa7	von Willebrand factor A domain containing 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303137	Vwa7	von Willebrand factor A domain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303137	Vwa7	von Willebrand factor A domain containing 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303137	Vwa7	von Willebrand factor A domain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:10286	prostate carcinoma	disease_progression	ISO	RGD:1606832	D	RGD:1581314|PMID:16492908	19990101	RGD		protein:decreased expression:prostate gland (human)	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606832	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1606832	D	RGD:1581317|PMID:9743567	19990101	RGD		protein:decreased expression:parietal cortex (human)	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1550885	D	RGD:10043111|PMID:21898507	20150514	RGD		mRNA:increased expression:liver:	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:1324	lung cancer		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:13580	cholestasis		ISO	RGD:1550885	D	RGD:10043111|PMID:21898507	20150514	RGD		mRNA:increased expression:liver:	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:13608	biliary atresia	disease_progression	ISO	RGD:1606832	D	RGD:10043111|PMID:21898507	20150514	RGD		mRNA,protein:increased expression:liver:	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:1612	breast cancer	severity	ISO	RGD:1606832	D	RGD:1581315|PMID:14734471	19990101	RGD		mRNA:decreased expression:breast (human)	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:1697	ichthyosis		ISO	RGD:1550885	D	RGD:10043094|PMID:18832587	20150513	RGD			
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1606832	D	RGD:1581316|PMID:11948120	19990101	RGD		protein:decreased expression:ovarian epithelium (human)	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:5082	liver cirrhosis		IEP		D	RGD:10043112|PMID:15086199	20150519	RGD		mRNA:increased expression:spleen:	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:5517	stomach carcinoma	severity	ISO	RGD:1606832	D	RGD:1581312|PMID:16273651	19990101	RGD		mRNA:decreased expression:stomach (human)	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1606832	D	RGD:1581311|PMID:16820046	19990101	RGD		mRNA:decreased expression:colon (human)	
1303138	Spint1	serine peptidase inhibitor, Kunitz type 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303139	Rnf114	ring finger protein 114	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303139	Rnf114	ring finger protein 114	gene	DOID:10534	stomach cancer		ISO	RGD:1349716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303139	Rnf114	ring finger protein 114	gene	DOID:1115	sarcoma		ISO	RGD:1349716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303139	Rnf114	ring finger protein 114	gene	DOID:12336	male infertility		ISO	RGD:1349716	D	RGD:1303956|PMID:12621547	19990101	RGD		mRNA:decreased expression:testes (human)	
1303139	Rnf114	ring finger protein 114	gene	DOID:1324	lung cancer		ISO	RGD:1349716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303139	Rnf114	ring finger protein 114	gene	DOID:5041	esophageal cancer		ISO	RGD:1349716	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303139	Rnf114	ring finger protein 114	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303139	Rnf114	ring finger protein 114	gene	DOID:8893	psoriasis		ISO	RGD:1349716	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953190
1303140	Rilpl2	Rab interacting lysosomal protein-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303140	Rilpl2	Rab interacting lysosomal protein-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1606943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303140	Rilpl2	Rab interacting lysosomal protein-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303140	Rilpl2	Rab interacting lysosomal protein-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606943	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303140	Rilpl2	Rab interacting lysosomal protein-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:0080600	COVID-19		ISO	RGD:1344472	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1344472	D	RGD:6483097|PMID:20590401	20120515	RGD		mRNA: splice variants	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:1115	sarcoma		ISO	RGD:1344472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1344472	D	RGD:6483095|PMID:19429005	20120515	RGD		DNA: snp: intron: rs11155313	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:1909	melanoma		ISO	RGD:1344472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:2377	multiple sclerosis		ISO	RGD:1344472	D	RGD:6483093|PMID:20546594	20120515	RGD		DNA: snp: : rs1015340	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1344472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344472	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303141	Phactr2	phosphatase and actin regulator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303142	Oser1	oxidative stress responsive serine-rich 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303142	Oser1	oxidative stress responsive serine-rich 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303142	Oser1	oxidative stress responsive serine-rich 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303142	Oser1	oxidative stress responsive serine-rich 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303144	Ak8	adenylate kinase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303144	Ak8	adenylate kinase 8	gene	DOID:10908	hydrocephalus		ISS	RGD:1332480	D	RGD:13592920	20180518	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
1303144	Ak8	adenylate kinase 8	gene	DOID:1324	lung cancer		ISO	RGD:1350831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303144	Ak8	adenylate kinase 8	gene	DOID:1909	melanoma		ISO	RGD:1350831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303144	Ak8	adenylate kinase 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303144	Ak8	adenylate kinase 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303144	Ak8	adenylate kinase 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303144	Ak8	adenylate kinase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350831	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303145	Abhd12b	abhydrolase domain containing 12B	gene	DOID:1115	sarcoma		ISO	RGD:1349841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303145	Abhd12b	abhydrolase domain containing 12B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303145	Abhd12b	abhydrolase domain containing 12B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303145	Abhd12b	abhydrolase domain containing 12B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303145	Abhd12b	abhydrolase domain containing 12B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303146	Cacybp	calcyclin binding protein	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:1346732	D	RGD:2326146|PMID:18765951	20100625	RGD		mRNA, protein:increased expression:pancreas	
1303146	Cacybp	calcyclin binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303146	Cacybp	calcyclin binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303146	Cacybp	calcyclin binding protein	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1303146	Cacybp	calcyclin binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303146	Cacybp	calcyclin binding protein	gene	DOID:5844	myocardial infarction		IEP		D	RGD:2326117|PMID:16440310	20100624	RGD		mRNA:increased expression:heart	
1303146	Cacybp	calcyclin binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303146	Cacybp	calcyclin binding protein	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1346732	D	RGD:2326146|PMID:18765951	20100625	RGD		associated with pancreatic neoplasms	
1303146	Cacybp	calcyclin binding protein	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1303147	Wfdc21	WAP four-disulfide core domain 21	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1550911	D	RGD:11554173	20250429	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303147	Wfdc21	WAP four-disulfide core domain 21	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:8662735	D	RGD:11554173	20250429	CTD		CTD Direct Evidence: marker/mechanism	PMID:34953898
1303148	St7	suppression of tumorigenicity 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303148	St7	suppression of tumorigenicity 7	gene	DOID:10534	stomach cancer		ISO	RGD:1343912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303148	St7	suppression of tumorigenicity 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303148	St7	suppression of tumorigenicity 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303148	St7	suppression of tumorigenicity 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1303148	St7	suppression of tumorigenicity 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1343912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1303149	Krt85	keratin 85	gene	DOID:0111658	ectodermal dysplasia 4		ISO	RGD:1350889	D	RGD:7240710	20130807	OMIM			
1303149	Krt85	keratin 85	gene	DOID:0111658	ectodermal dysplasia 4		ISO	RGD:1350889	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE | ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type | ClinVar Annotator: match by term: KRT85-related condition	PMID:25741868|PMID:28492532
1303150	Rab21	RAB21, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303150	Rab21	RAB21, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303150	Rab21	RAB21, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1350890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303150	Rab21	RAB21, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1350890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303150	Rab21	RAB21, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1350890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303150	Rab21	RAB21, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303150	Rab21	RAB21, member RAS oncogene family	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350890	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303150	Rab21	RAB21, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350890	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303150	Rab21	RAB21, member RAS oncogene family	gene	DOID:9970	obesity		ISO	RGD:1350890	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:29273807
1303151	Adipor1	adiponectin receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344545	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1303151	Adipor1	adiponectin receptor 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1344545	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:26662040|PMID:27655171
1303151	Adipor1	adiponectin receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1344545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:1612	breast cancer		ISO	RGD:1344545	D	RGD:8694415|PMID:18451143	20140805	RGD		DNA:SNPs: :rs7539542 (human)	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:1612	breast cancer	no_association	ISO	RGD:1344545	D	RGD:8694417|PMID:19723917	20140805	RGD			
1303151	Adipor1	adiponectin receptor 1	gene	DOID:1909	melanoma		ISO	RGD:1344545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:2018	hyperinsulinism		IEP		D	RGD:1625765|PMID:16326833	20070629	RGD		mRNA:decreased expression:skeletal muscle cell	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:2526	prostate adenocarcinoma	susceptibility	ISO	RGD:1344545	D	RGD:8694410|PMID:21397927	20140805	RGD		DNA:SNPs, haplotype:intron, exon: (rs12733285, rs7539452)  (human)	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:4195	hyperglycemia		IEP		D	RGD:1625765|PMID:16326833	20070629	RGD		mRNA:decreased expression:skeletal muscle cell	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:4448	macular degeneration		ISO	RGD:1344545	D	RGD:8694465|PMID:22387454	20140805	RGD		DNA:SNP:intron:c.-95+191A>G (rs10753929) (human)	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1332010	D	RGD:1625764|PMID:16415076	20070629	RGD		mRNA, protein:decreased expression:heart left ventricle	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:783	end stage renal disease		IEP		D	RGD:8695941|PMID:24028144	20140806	RGD			
1303151	Adipor1	adiponectin receptor 1	gene	DOID:783	end stage renal disease		ISO	RGD:1344545	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19539174
1303151	Adipor1	adiponectin receptor 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1344545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33523960|PMID:9536098
1303151	Adipor1	adiponectin receptor 1	gene	DOID:9002231	Fetal Growth Retardation	treatment	IEP		D	RGD:8695947|PMID:23533720	20140806	RGD			
1303151	Adipor1	adiponectin receptor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:9006945	Diabetic Cardiomyopathies		IEP		D	RGD:8695938|PMID:24669271	20140806	RGD		associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:9007456	Female Infertility		ISO	RGD:1344545	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22265003
1303151	Adipor1	adiponectin receptor 1	gene	DOID:9007692	Insulin Resistance	resistance	ISO	RGD:1344545	D	RGD:1625762|PMID:17285539	20070629	RGD		associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:9970	obesity		IEP		D	RGD:1625763|PMID:16483885	20070629	RGD		mRNA:increased expression:liver	
1303151	Adipor1	adiponectin receptor 1	gene	DOID:9970	obesity		ISO	RGD:1344545	D	RGD:1625761|PMID:17391161	20070629	RGD		mRNA:decreased expression:lymphocyte	
1303152	Enc1	ectodermal-neural cortex 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303152	Enc1	ectodermal-neural cortex 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303152	Enc1	ectodermal-neural cortex 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303152	Enc1	ectodermal-neural cortex 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352868	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303152	Enc1	ectodermal-neural cortex 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303154	Rnf141	ring finger protein 141	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303154	Rnf141	ring finger protein 141	gene	DOID:3275	thymoma		ISO	RGD:1350770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303154	Rnf141	ring finger protein 141	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350770	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303155	Oxgr1	oxoglutarate receptor 1	gene	DOID:9004712	Calcium Oxalate Nephrolithiasis 2 with Nephrocalcinosis		ISO	RGD:1346637	D	RGD:7240710	20230531	OMIM			
1303155	Oxgr1	oxoglutarate receptor 1	gene	DOID:9004712	Calcium Oxalate Nephrolithiasis 2 with Nephrocalcinosis		ISO	RGD:1346637	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis	PMID:25741868|PMID:40794449
1303155	Oxgr1	oxoglutarate receptor 1	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:1550957	D	RGD:7775025|PMID:23200873	20131230	RGD			
1303155	Oxgr1	oxoglutarate receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303156	Npdc1	neural proliferation, differentiation and control, 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303156	Npdc1	neural proliferation, differentiation and control, 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303156	Npdc1	neural proliferation, differentiation and control, 1	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1353727	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1303156	Npdc1	neural proliferation, differentiation and control, 1	gene	DOID:1324	lung cancer		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303156	Npdc1	neural proliferation, differentiation and control, 1	gene	DOID:1909	melanoma		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303156	Npdc1	neural proliferation, differentiation and control, 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303156	Npdc1	neural proliferation, differentiation and control, 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303156	Npdc1	neural proliferation, differentiation and control, 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303156	Npdc1	neural proliferation, differentiation and control, 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353727	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303156	Npdc1	neural proliferation, differentiation and control, 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303157	Krt24	keratin 24	gene	DOID:10534	stomach cancer		ISO	RGD:1349415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303158	Hsd17b8	hydroxysteroid (17-beta) dehydrogenase 8	gene	DOID:1324	lung cancer		ISO	RGD:1351353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303158	Hsd17b8	hydroxysteroid (17-beta) dehydrogenase 8	gene	DOID:3275	thymoma		ISO	RGD:1351353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303158	Hsd17b8	hydroxysteroid (17-beta) dehydrogenase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303158	Hsd17b8	hydroxysteroid (17-beta) dehydrogenase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303159	Maip1	matrix AAA peptidase interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303159	Maip1	matrix AAA peptidase interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1603199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303159	Maip1	matrix AAA peptidase interacting protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303159	Maip1	matrix AAA peptidase interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303159	Maip1	matrix AAA peptidase interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303160	Arhgap20	Rho GTPase activating protein 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303160	Arhgap20	Rho GTPase activating protein 20	gene	DOID:10283	prostate cancer		ISO	RGD:1350363	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1303160	Arhgap20	Rho GTPase activating protein 20	gene	DOID:10283	prostate cancer		ISO	RGD:1350363	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1303160	Arhgap20	Rho GTPase activating protein 20	gene	DOID:10534	stomach cancer		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303160	Arhgap20	Rho GTPase activating protein 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303160	Arhgap20	Rho GTPase activating protein 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303160	Arhgap20	Rho GTPase activating protein 20	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303161	St8sia6	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605541	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303161	St8sia6	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	gene	DOID:0080600	COVID-19		ISO	RGD:1605541	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1303161	St8sia6	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	gene	DOID:10283	prostate cancer		ISO	RGD:1605541	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1303161	St8sia6	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	gene	DOID:10283	prostate cancer		ISO	RGD:1605541	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1303161	St8sia6	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1605541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303161	St8sia6	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	gene	DOID:1115	sarcoma		ISO	RGD:1605541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303161	St8sia6	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	gene	DOID:1324	lung cancer		ISO	RGD:1605541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303161	St8sia6	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	gene	DOID:1909	melanoma		ISO	RGD:1605541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303161	St8sia6	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303161	St8sia6	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303161	St8sia6	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605541	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303162	Ltb	lymphotoxin beta	gene	DOID:0060058	lymphoma		ISO	RGD:1353964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1303162	Ltb	lymphotoxin beta	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1353964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1303162	Ltb	lymphotoxin beta	gene	DOID:1909	melanoma		ISO	RGD:1353964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303162	Ltb	lymphotoxin beta	gene	DOID:2773	contact dermatitis		ISO	RGD:1551006	D	RGD:8548819|PMID:11390430	20140320	RGD			
1303162	Ltb	lymphotoxin beta	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353964	D	RGD:11554173	20170328	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303162	Ltb	lymphotoxin beta	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1551006	D	RGD:8548820|PMID:17911622	20140320	RGD			
1303162	Ltb	lymphotoxin beta	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1551006	D	RGD:8548822|PMID:12115620	20140320	RGD			
1303163	Ppp1r11	protein phosphatase 1, regulatory (inhibitor) subunit 11	gene	DOID:3275	thymoma		ISO	RGD:1350582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303163	Ppp1r11	protein phosphatase 1, regulatory (inhibitor) subunit 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303163	Ppp1r11	protein phosphatase 1, regulatory (inhibitor) subunit 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:0112342	hereditary spastic paraplegia 86		ISO	RGD:1351609	D	RGD:7240710	20220223	OMIM			
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:0112342	hereditary spastic paraplegia 86		ISO	RGD:1351609	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive	PMID:25741868
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:10534	stomach cancer		ISO	RGD:1351609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:1324	lung cancer		ISO	RGD:1351609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1351609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia	PMID:25741868
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:5041	esophageal cancer		ISO	RGD:1351609	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:607	paraplegia		ISO	RGD:1351609	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868|PMID:34587489
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:630	genetic disease		ISO	RGD:1351609	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351609	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1303164	Abhd16a	abhydrolase domain containing 16A, phospholipase	gene	DOID:9256	colorectal cancer		ISO	RGD:1351609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1303167	Slc44a4	solute carrier family 44, member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303167	Slc44a4	solute carrier family 44, member 4	gene	DOID:0060058	lymphoma		ISO	RGD:1349303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1303167	Slc44a4	solute carrier family 44, member 4	gene	DOID:0061167	autosomal recessive proximal renal tubular acidosis		ISO	RGD:1349303	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive proximal renal tubular acidosis	PMID:25741868
1303167	Slc44a4	solute carrier family 44, member 4	gene	DOID:0080268	autosomal dominant nonsyndromic deafness 72		ISO	RGD:1349303	D	RGD:7240710	20190315	OMIM			
1303167	Slc44a4	solute carrier family 44, member 4	gene	DOID:0080268	autosomal dominant nonsyndromic deafness 72		ISO	RGD:1349303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition	PMID:25741868|PMID:28492532
1303167	Slc44a4	solute carrier family 44, member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303167	Slc44a4	solute carrier family 44, member 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303167	Slc44a4	solute carrier family 44, member 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1303167	Slc44a4	solute carrier family 44, member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1349303	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303167	Slc44a4	solute carrier family 44, member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303167	Slc44a4	solute carrier family 44, member 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303167	Slc44a4	solute carrier family 44, member 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1349303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1303167	Slc44a4	solute carrier family 44, member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1303169	Il22ra2	interleukin 22 receptor subunit alpha 2	gene	DOID:0080711	multisystem inflammatory syndrome in children		ISO	RGD:1322028	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children	
1303169	Il22ra2	interleukin 22 receptor subunit alpha 2	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1322028	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
1303169	Il22ra2	interleukin 22 receptor subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303170	Jph4	junctophilin 4	gene	DOID:0080600	COVID-19		ISO	RGD:1315305	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1303170	Jph4	junctophilin 4	gene	DOID:1909	melanoma		ISO	RGD:1315305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303170	Jph4	junctophilin 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303170	Jph4	junctophilin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303170	Jph4	junctophilin 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303171	Clcf1	cardiotrophin-like cytokine factor 1	gene	DOID:0060294	cold-induced sweating syndrome		ISO	RGD:1606817	D	RGD:11554173	20180809	CTD		CTD Direct Evidence: marker/mechanism	
1303171	Clcf1	cardiotrophin-like cytokine factor 1	gene	DOID:0080330	cold-induced sweating syndrome 2		ISO	RGD:1606817	D	RGD:7240710	20170315	OMIM			
1303171	Clcf1	cardiotrophin-like cytokine factor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1606817	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1303171	Clcf1	cardiotrophin-like cytokine factor 1	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1606817	D	RGD:5490168|PMID:19635508	20200527	RGD		mRNA:decreased expression:lung (human)	
1303172	Fancd2	FA complementation group D2	gene	DOID:0060058	lymphoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:17436244|PMID:22720145|PMID:24033266|PMID:25703294|PMID:25741868|PMID:28386063|PMID:28492532
1303172	Fancd2	FA complementation group D2	gene	DOID:0111083	Fanconi anemia complementation group D2		ISO	RGD:1343234	D	RGD:7240710	20130425	OMIM			
1303172	Fancd2	FA complementation group D2	gene	DOID:0111083	Fanconi anemia complementation group D2		ISO	RGD:1343234	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D | ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 4 | ClinVar Annotator: match by term: Fanconi anemia complementation group D2 | ClinVar Annotator: match by term: Fanconi anemia, complementation group D2	PMID:11239453|PMID:16199547|PMID:17308347|PMID:17436244|PMID:17576681|PMID:22720145|PMID:22828868|PMID:23613520|PMID:24033266|PMID:25168418|PMID:25703294|PMID:25741868|PMID:27041517|PMID:27931139|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32581362|PMID:32659967|PMID:36463940|PMID:37433680|PMID:37566130|PMID:39283238|PMID:40906985|PMID:9536098
1303172	Fancd2	FA complementation group D2	gene	DOID:0111083	Fanconi anemia complementation group D2		ISS	RGD:1615723	D	RGD:13592920	20230718	MouseDO		OMIM:227646	
1303172	Fancd2	FA complementation group D2	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1343234	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group A	PMID:25168418|PMID:25741868|PMID:28492532
1303172	Fancd2	FA complementation group D2	gene	DOID:10534	stomach cancer		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303172	Fancd2	FA complementation group D2	gene	DOID:10629	microphthalmia		ISO	RGD:1615723	D	RGD:11344906|PMID:12893777	20160708	RGD			
1303172	Fancd2	FA complementation group D2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303172	Fancd2	FA complementation group D2	gene	DOID:1115	sarcoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303172	Fancd2	FA complementation group D2	gene	DOID:11383	cryptorchidism		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1303172	Fancd2	FA complementation group D2	gene	DOID:1324	lung cancer		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303172	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:11344904|PMID:19287902	20160707	RGD			
1303172	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14667412
1303172	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:1601137|PMID:11239453	20070409	RGD		DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple	
1303172	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:21356188|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25927356|PMID:26633542|PMID:27041517|PMID:28492532|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30713837|PMID:31586946|PMID:33558524|PMID:9536098
1303172	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:9536098
1303172	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:9536098
1303172	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:34585473|PMID:9536098
1303172	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:34585473|PMID:9536098
1303172	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17096012|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:22829014|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33270637|PMID:33558524|PMID:34327028|PMID:34585473|PMID:9536098
1303172	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17096012|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:22829014|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30633423|PMID:30713837|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33270637|PMID:33558524|PMID:34308104|PMID:34327028|PMID:34585473|PMID:36463940|PMID:38502138|PMID:9536098
1303172	Fancd2	FA complementation group D2	gene	DOID:13636	Fanconi anemia		ISO	RGD:1343234	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:11239453|PMID:14695169|PMID:16199547|PMID:17096012|PMID:17308347|PMID:17436244|PMID:17576681|PMID:22720145|PMID:22828868|PMID:22829014|PMID:23613520|PMID:24033266|PMID:24584348|PMID:25640679|PMID:25703294|PMID:25741868|PMID:26580448|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28195569|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:29926297|PMID:30256826|PMID:30306255|PMID:30633423|PMID:30713837|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33024263|PMID:33361032|PMID:33947352|PMID:34741701|PMID:35101336|PMID:36463940|PMID:37216690|PMID:37433680|PMID:37566130|PMID:39051418|PMID:39283238|PMID:40906985|PMID:9536098
1303172	Fancd2	FA complementation group D2	gene	DOID:1612	breast cancer		ISO	RGD:1343234	D	RGD:10769361|PMID:23897704	20160210	RGD			
1303172	Fancd2	FA complementation group D2	gene	DOID:1612	breast cancer		ISO	RGD:1343234	D	RGD:11344909|PMID:16679306	20160708	RGD		DNA:SNP, haplotype: :rs2272125 (human)	
1303172	Fancd2	FA complementation group D2	gene	DOID:1612	breast cancer		ISO	RGD:1343234	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast Cancer	PMID:25741868|PMID:28492532|PMID:33558524
1303172	Fancd2	FA complementation group D2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303172	Fancd2	FA complementation group D2	gene	DOID:2394	ovarian cancer		ISO	RGD:1343234	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1303172	Fancd2	FA complementation group D2	gene	DOID:2841	asthma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
1303172	Fancd2	FA complementation group D2	gene	DOID:3070	high grade glioma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303172	Fancd2	FA complementation group D2	gene	DOID:3275	thymoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1303172	Fancd2	FA complementation group D2	gene	DOID:4362	cervical cancer		ISO	RGD:1343234	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303172	Fancd2	FA complementation group D2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303172	Fancd2	FA complementation group D2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343234	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303172	Fancd2	FA complementation group D2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1615723	D	RGD:11344907|PMID:20935219	20160708	RGD			
1303172	Fancd2	FA complementation group D2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1343234	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17436244|PMID:21356188|PMID:24728327|PMID:25741868|PMID:28492532
1303172	Fancd2	FA complementation group D2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1343234	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17436244|PMID:17576681|PMID:21356188|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9536098
1303172	Fancd2	FA complementation group D2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1343234	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532
1303172	Fancd2	FA complementation group D2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17576681|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9536098
1303172	Fancd2	FA complementation group D2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1343234	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1303172	Fancd2	FA complementation group D2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303172	Fancd2	FA complementation group D2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303172	Fancd2	FA complementation group D2	gene	DOID:630	genetic disease		ISO	RGD:1343234	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1303172	Fancd2	FA complementation group D2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343234	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1303172	Fancd2	FA complementation group D2	gene	DOID:687	hepatoblastoma		ISO	RGD:1343234	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:25741868|PMID:28492532|PMID:28678401|PMID:30306255
1303172	Fancd2	FA complementation group D2	gene	DOID:8923	skin melanoma		ISO	RGD:1343234	D	RGD:11046262|PMID:21697891	20160404	RGD		mRNA,protein:increased expression:skin,nucleus:	
1303172	Fancd2	FA complementation group D2	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:1343234	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	PMID:25741868
1303172	Fancd2	FA complementation group D2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303172	Fancd2	FA complementation group D2	gene	DOID:9006493	Glandular and Epithelial Neoplasms		ISO	RGD:1615723	D	RGD:11344906|PMID:12893777	20160708	RGD			
1303172	Fancd2	FA complementation group D2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303172	Fancd2	FA complementation group D2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1343234	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary cancer	PMID:25741868
1303172	Fancd2	FA complementation group D2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532
1303172	Fancd2	FA complementation group D2	gene	DOID:9008539	Perinatal Death		ISO	RGD:1615723	D	RGD:11344906|PMID:12893777	20160708	RGD			
1303172	Fancd2	FA complementation group D2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17436244|PMID:22720145|PMID:24033266|PMID:25703294|PMID:25741868|PMID:28386063|PMID:28492532
1303172	Fancd2	FA complementation group D2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343234	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:17436244|PMID:23613520|PMID:25741868|PMID:28492532|PMID:37433680|PMID:37566130|PMID:39283238|PMID:40906985
1303172	Fancd2	FA complementation group D2	gene	DOID:9970	obesity		ISO	RGD:1343234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:10534	stomach cancer		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:1059	intellectual disability		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:1324	lung cancer		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:1909	melanoma		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:4362	cervical cancer		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:5041	esophageal cancer		ISO	RGD:1351066	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:630	genetic disease		ISO	RGD:1351066	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:9004263	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY		ISO	RGD:1351066	D	RGD:7240710	20220216	OMIM			
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:9004263	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY		ISO	RGD:1351066	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay | ClinVar Annotator: match by term: UBE4A-related condition	PMID:25741868|PMID:33420346
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351066	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303173	Ube4a	ubiquitination factor E4A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303174	Ppid	peptidylprolyl isomerase D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303174	Ppid	peptidylprolyl isomerase D	gene	DOID:1909	melanoma		ISO	RGD:1342741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303174	Ppid	peptidylprolyl isomerase D	gene	DOID:2316	brain ischemia		ISO	RGD:1553037	D	RGD:1580699|PMID:16103352	19990101	RGD			
1303174	Ppid	peptidylprolyl isomerase D	gene	DOID:4362	cervical cancer		ISO	RGD:1342741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303174	Ppid	peptidylprolyl isomerase D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303174	Ppid	peptidylprolyl isomerase D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303174	Ppid	peptidylprolyl isomerase D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303174	Ppid	peptidylprolyl isomerase D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303174	Ppid	peptidylprolyl isomerase D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303175	Nmt2	N-myristoyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303175	Nmt2	N-myristoyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303175	Nmt2	N-myristoyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1349505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303175	Nmt2	N-myristoyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1349505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303175	Nmt2	N-myristoyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1349505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303175	Nmt2	N-myristoyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303175	Nmt2	N-myristoyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303175	Nmt2	N-myristoyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349505	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303175	Nmt2	N-myristoyltransferase 2	gene	DOID:5119	ovarian cyst		ISO	RGD:1349505	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
1303175	Nmt2	N-myristoyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303175	Nmt2	N-myristoyltransferase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1349505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1303175	Nmt2	N-myristoyltransferase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303175	Nmt2	N-myristoyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303175	Nmt2	N-myristoyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303176	Tspan5	tetraspanin 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303176	Tspan5	tetraspanin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303176	Tspan5	tetraspanin 5	gene	DOID:10283	prostate cancer		ISO	RGD:1602132	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1303176	Tspan5	tetraspanin 5	gene	DOID:10283	prostate cancer		ISO	RGD:1602132	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1303176	Tspan5	tetraspanin 5	gene	DOID:1909	melanoma		ISO	RGD:1602132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303176	Tspan5	tetraspanin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303176	Tspan5	tetraspanin 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303177	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303177	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303177	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303177	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303177	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303177	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1303177	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303177	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303177	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303177	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303177	Top1mt	DNA topoisomerase I mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303178	Nanog	Nanog homeobox	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:1553059	D	RGD:9681444|PMID:24954161	20141126	RGD		mouse gene in a rat model;mRNA, protein:increased expression:embryonic stem cell	
1303178	Nanog	Nanog homeobox	gene	DOID:219	colon cancer	treatment	IDA		D	RGD:7240527|PMID:22641368	20141126	RGD			
1303178	Nanog	Nanog homeobox	gene	DOID:3307	teratoma	severity	ISO	RGD:1553059	D	RGD:9681441|PMID:20817694	20141126	RGD		mouse gene in a rat Myocardial Infarction model;protein:decreased expression:embryonic stem cell	
1303178	Nanog	Nanog homeobox	gene	DOID:5041	esophageal cancer		ISO	RGD:1347686	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303178	Nanog	Nanog homeobox	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1347686	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16168501
1303178	Nanog	Nanog homeobox	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1347686	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:29626521
1303178	Nanog	Nanog homeobox	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303179	Bpi	bactericidal/permeability-increasing protein	gene	DOID:10534	stomach cancer		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303179	Bpi	bactericidal/permeability-increasing protein	gene	DOID:1115	sarcoma		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303179	Bpi	bactericidal/permeability-increasing protein	gene	DOID:1324	lung cancer		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303179	Bpi	bactericidal/permeability-increasing protein	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1352137	D	RGD:5490168|PMID:19635508	20200527	RGD		mRNA:increased expression:lung (human)	
1303179	Bpi	bactericidal/permeability-increasing protein	gene	DOID:3275	thymoma		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303179	Bpi	bactericidal/permeability-increasing protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1352137	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303179	Bpi	bactericidal/permeability-increasing protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303179	Bpi	bactericidal/permeability-increasing protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303179	Bpi	bactericidal/permeability-increasing protein	gene	DOID:8778	Crohn's disease		ISO	RGD:1352137	D	RGD:1580079|PMID:15758620	19990101	RGD			
1303179	Bpi	bactericidal/permeability-increasing protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303179	Bpi	bactericidal/permeability-increasing protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303180	Sfta2	surfactant associated 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303181	Krt17	keratin 17	gene	DOID:0050449	pachyonychia congenita		ISO	RGD:1353171	D	RGD:11554173	20190402	CTD		CTD Direct Evidence: marker/mechanism	
1303181	Krt17	keratin 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303181	Krt17	keratin 17	gene	DOID:0080082	nonsyndromic congenital nail disorder 4		ISO	RGD:1353171	D	RGD:8554872	20190514	ClinVar		ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 4	PMID:25741868
1303181	Krt17	keratin 17	gene	DOID:0111556	steatocystoma multiplex		ISO	RGD:1353171	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303181	Krt17	keratin 17	gene	DOID:0111556	steatocystoma multiplex		ISO	RGD:1353171	D	RGD:7240710	20130221	OMIM			
1303181	Krt17	keratin 17	gene	DOID:0111556	steatocystoma multiplex		ISO	RGD:1353171	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: STEATOCYSTOMA MULTIPLEX | ClinVar Annotator: match by term: Steatocystoma multiplex	PMID:11809119|PMID:11886499|PMID:14714564|PMID:19470054|PMID:22336949|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:29784039|PMID:31823354|PMID:9008238|PMID:9767294
1303181	Krt17	keratin 17	gene	DOID:2121	ectodermal dysplasia	susceptibility	ISO	RGD:1353171	D	RGD:1600184|PMID:7539673	20070301	RGD		protein:mutation: ; N92D; pachyonychia congenita, OMIM:167210	
1303181	Krt17	keratin 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303181	Krt17	keratin 17	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1353171	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:20871598|PMID:36428691
1303181	Krt17	keratin 17	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1353171	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
1303181	Krt17	keratin 17	gene	DOID:4362	cervical cancer		ISO	RGD:1353171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303181	Krt17	keratin 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303181	Krt17	keratin 17	gene	DOID:630	genetic disease		ISO	RGD:1353171	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11809119|PMID:22336949|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:31823354|PMID:9767294
1303181	Krt17	keratin 17	gene	DOID:9001341	Chloracne		ISO	RGD:1353171	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21237254
1303181	Krt17	keratin 17	gene	DOID:9004213	Pachyonychia Congenita 2		ISO	RGD:1353171	D	RGD:7240710	20190327	OMIM			
1303181	Krt17	keratin 17	gene	DOID:9004213	Pachyonychia Congenita 2		ISO	RGD:1353171	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KRT17-related condition | ClinVar Annotator: match by term: PACHYONYCHIA CONGENITA 2 | ClinVar Annotator: match by term: PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE | ClinVar Annotator: match by term: Pachyonychia congenita 2 | ClinVar Annotator: match by term: pachyonychia congenita 2	PMID:11809119|PMID:17576681|PMID:22336949|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:31823354|PMID:9536098|PMID:9767294
1303181	Krt17	keratin 17	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1353171	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26168014
1303181	Krt17	keratin 17	gene	DOID:9008109	Sebocystomatosis		ISO	RGD:1353171	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sebocystomatosis	PMID:22336949|PMID:25741868|PMID:28492532|PMID:31823354
1303181	Krt17	keratin 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353171	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303182	Dctn2	dynactin subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303182	Dctn2	dynactin subunit 2	gene	DOID:0050890	synucleinopathy		IEP		D	RGD:11049591|PMID:19295143	20170726	RGD			
1303182	Dctn2	dynactin subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303182	Dctn2	dynactin subunit 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1352908	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	
1303182	Dctn2	dynactin subunit 2	gene	DOID:10907	microcephaly		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1303182	Dctn2	dynactin subunit 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1303182	Dctn2	dynactin subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303182	Dctn2	dynactin subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303182	Dctn2	dynactin subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1303182	Dctn2	dynactin subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303182	Dctn2	dynactin subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303182	Dctn2	dynactin subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1352908	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303182	Dctn2	dynactin subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303182	Dctn2	dynactin subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303182	Dctn2	dynactin subunit 2	gene	DOID:9007817	Macroglossia		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868
1303182	Dctn2	dynactin subunit 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1303182	Dctn2	dynactin subunit 2	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1303182	Dctn2	dynactin subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:10485	esophageal atresia		ISO	RGD:1346963	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:1115	sarcoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:1909	melanoma		ISO	RGD:1346963	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:1909	melanoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:3275	thymoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:8552	chronic myeloid leukemia		ISS	RGD:1553084	D	RGD:13592920	20180518	MouseDO		OMIM:608232	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303184	Sipa1	signal-induced proliferation-associated 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1346963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1303185	Tfap2c	transcription factor AP-2 gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303185	Tfap2c	transcription factor AP-2 gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303185	Tfap2c	transcription factor AP-2 gamma	gene	DOID:10907	microcephaly		ISO	RGD:1346626	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1303185	Tfap2c	transcription factor AP-2 gamma	gene	DOID:1115	sarcoma		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303185	Tfap2c	transcription factor AP-2 gamma	gene	DOID:1324	lung cancer		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303185	Tfap2c	transcription factor AP-2 gamma	gene	DOID:4362	cervical cancer		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303185	Tfap2c	transcription factor AP-2 gamma	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303185	Tfap2c	transcription factor AP-2 gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303185	Tfap2c	transcription factor AP-2 gamma	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1346626	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
1303185	Tfap2c	transcription factor AP-2 gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303185	Tfap2c	transcription factor AP-2 gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1353173	D	RGD:11053274|PMID:26098115	20231030	RGD		protein:increased expression:heart (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:0060604	ankyloglossia		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	PMID:25741868
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:0080600	COVID-19		ISO	RGD:1353173	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:1615702	D	RGD:401901253|PMID:36571365	20231206	RGD			
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:0112206	developmental and epileptic encephalopathy 70		ISO	RGD:1353173	D	RGD:7240710	20190315	OMIM			
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:0112206	developmental and epileptic encephalopathy 70		ISO	RGD:1353173	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 | ClinVar Annotator: match by term: PHACTR1-related condition	PMID:25741868
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:1059	intellectual disability		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:10825	essential hypertension	susceptibility	ISO	RGD:1353173	D	RGD:401900745|PMID:34758666	20231120	RGD		DNA:SNP::g.12903725A>G (rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:12783	migraine without aura		ISO	RGD:1353173	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22683712
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:12849	autistic disorder		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:13099	Moyamoya disease	disease_progression	ISO	RGD:1353173	D	RGD:401900691|PMID:32411507	20231115	RGD		DNA:missense mutation:CDS:c.13185159G>T (p.V265L) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:1826	epilepsy		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:1936	atherosclerosis	exacerbates	ISO	RGD:1353173	D	RGD:401900131|PMID:36091033	20231107	RGD		mRNA:increased expression:carotid artery (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1353173	D	RGD:11554173	20220308	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990|PMID:22751097|PMID:26098115|PMID:34961328
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1353173	D	RGD:401901251|PMID:31499127	20231206	RGD		DNA:hypermethylation, hypomethylation:promoter, exon: (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:3393	coronary artery disease	sexual_dimorphism	ISO	RGD:1353173	D	RGD:401851919|PMID:30777881	20231031	RGD		DNA:SNP:intron:g.12903725A>G (rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1353173	D	RGD:401900135|PMID:27517945	20231107	RGD		DNA:SNP:intron:g.12903957A>G (rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1353173	D	RGD:401900687|PMID:29784573	20231115	RGD		associated with familial hypercholesterolemia;DNA:SNP:intron: (rs12526453) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1353173	D	RGD:401900688|PMID:27893421	20231115	RGD		DNA:SNPs:intron: (rs9381439, rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1353173	D	RGD:401901243|PMID:27066539	20231206	RGD		DNA:SNP:exon: (rs4714955) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:3526	cerebral infarction		ISO	RGD:1353173	D	RGD:401900685|PMID:23042660	20231115	RGD		DNA:SNP:intron: (rs12526453) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:4248	coronary stenosis	susceptibility	ISO	RGD:1353173	D	RGD:401900726|PMID:22745674	20231116	RGD		DNA:SNP::g.13011943A>G (rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:5419	schizophrenia		ISO	RGD:1353173	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:5844	myocardial infarction		IEP		D	RGD:11053274|PMID:26098115	20231030	RGD		mRNA, protein:decreased expression:heart left ventricle (rat)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1353173	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19198609|PMID:26098115
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1353173	D	RGD:401900171|PMID:33460763	20231108	RGD		mRNA:increased expression:peripheral blood mononuclear cells (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:1353173	D	RGD:401900171|PMID:33460763	20231108	RGD		DNA:SNPs:intron 3: (rs9349379, rs2026458, rs2876300) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:5844	myocardial infarction	severity	ISO	RGD:1353173	D	RGD:11056926|PMID:26086777	20231115	RGD		DNA:SNP:intron:(rs12526453) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1353173	D	RGD:11052493|PMID:25838425	20231115	RGD		DNA:SNPs:multiple (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1353173	D	RGD:11052994|PMID:25738804	20231116	RGD		DNA:SNP:intron: (rs9369640) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1353173	D	RGD:401851907|PMID:19198609	20231030	RGD		DNA:SNP:intron:g.13035530G>C (rs12526453) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:6364	migraine		ISO	RGD:1353173	D	RGD:401901172|PMID:28957430	20231130	RGD		DNA:SNP:intron:g.13011943 (rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:6364	migraine		ISO	RGD:1353173	D	RGD:401901243|PMID:27066539	20231206	RGD		DNA:SNP:intron:g.13011943 (rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9000146	Plaque, Atherosclerotic		ISO	RGD:1353173	D	RGD:401900728|PMID:31980275	20231116	RGD		mRNA:decreased expression:carotid artery segment (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9000528	Coronary Disease	no_association	ISO	RGD:1353173	D	RGD:401901081|PMID:28287809	20231128	RGD		DNA:SNP:intron 3: (rs12526453) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1353173	D	RGD:11055500|PMID:22152955	20231205	RGD		associated with type 2 diabetes mellitus;DNA:SNP:intron: (rs12526453) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9001528	ARTERIAL DISSECTION	susceptibility	ISO	RGD:1353173	D	RGD:401900170|PMID:25420145	20231108	RGD		DNA:SNP:intron:g.13,011,943 >G (rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9001686	Acute Coronary Syndrome	exacerbates	ISO	RGD:1353173	D	RGD:401900689|PMID:32857129	20231115	RGD		protein:increased expression:monocyte (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9001829	Cerebrovascular Trauma		ISO	RGD:1353173	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25420145
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25741868
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	PMID:25741868
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9003785	Fibromuscular Dysplasia	susceptibility	ISO	RGD:1353173	D	RGD:401900294|PMID:27792790	20231116	RGD		DNA:SNPs:intron: (rs1332844, rs9369640, rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9003785	Fibromuscular Dysplasia	susceptibility	ISO	RGD:1353173	D	RGD:401900690|PMID:32475314	20231115	RGD		DNA:SNP:: (rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353173	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9005332	Spontaneous Coronary Artery Dissection		ISO	RGD:1353173	D	RGD:401900725|PMID:33319763	20231116	RGD		DNA:SNP:exon: (rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9005332	Spontaneous Coronary Artery Dissection		ISO	RGD:1353173	D	RGD:401901175|PMID:32887874	20231130	RGD		DNA:SNP:exon: (rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9005332	Spontaneous Coronary Artery Dissection	susceptibility	ISO	RGD:1353173	D	RGD:401901252|PMID:32374345	20231206	RGD		DNA:SNP:intron 3: (rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9006778	Carotid Atherosclerosis	severity	ISO	RGD:1353173	D	RGD:401900133|PMID:31200082	20231107	RGD		DNA:SNPs, haplotype:intron 3: (rs9349379, rs2026458, rs2876300) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9008778	Coronary Artery Calcification		ISO	RGD:1353173	D	RGD:11054804|PMID:26789557	20231205	RGD		DNA:SNP:intron:g.13011943A>G (rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9008778	Coronary Artery Calcification		ISO	RGD:1353173	D	RGD:11057923|PMID:23561647	20231130	RGD		DNA:SNP:intron: (rs12526453) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9008778	Coronary Artery Calcification		ISO	RGD:1353173	D	RGD:11058683|PMID:23394302	20231031	RGD		DNA:SNP:intron:g.13011943A>G (rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9008778	Coronary Artery Calcification		ISO	RGD:1353173	D	RGD:401901247|PMID:34241534	20231206	RGD		associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)	
1303187	Phactr1	phosphatase and actin regulator 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1353173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1303188	Spink4	serine peptidase inhibitor, Kazal type 4	gene	DOID:1909	melanoma		ISO	RGD:1342974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303190	Nox3	NADPH oxidase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303190	Nox3	NADPH oxidase 3	gene	DOID:1909	melanoma		ISO	RGD:1351952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303190	Nox3	NADPH oxidase 3	gene	DOID:3275	thymoma		ISO	RGD:1351952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303190	Nox3	NADPH oxidase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1351952	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303190	Nox3	NADPH oxidase 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351952	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1303191	Snupn	snurportin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303191	Snupn	snurportin 1	gene	DOID:0061134	autosomal recessive limb-girdle muscular dystrophy type 29		ISO	RGD:1353124	D	RGD:7240710	20240731	OMIM			
1303191	Snupn	snurportin 1	gene	DOID:0061134	autosomal recessive limb-girdle muscular dystrophy type 29		ISO	RGD:1353124	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SNUPN deficiency muscular dystrophy	PMID:25741868|PMID:38413582
1303191	Snupn	snurportin 1	gene	DOID:1115	sarcoma		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303191	Snupn	snurportin 1	gene	DOID:11162	respiratory failure		ISO	RGD:1353124	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: respiratory insufficiency	PMID:25741868|PMID:38366623|PMID:38413582
1303191	Snupn	snurportin 1	gene	DOID:3070	high grade glioma		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303191	Snupn	snurportin 1	gene	DOID:3275	thymoma		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303191	Snupn	snurportin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303191	Snupn	snurportin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303191	Snupn	snurportin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303191	Snupn	snurportin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303191	Snupn	snurportin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303192	Klk1c12	kallikrein 1-related peptidase C12	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1349866	D	RGD:1641802|PMID:15117887	20070822	RGD		associated with Diabetes Mellitus, Experimental	
1303192	Klk1c12	kallikrein 1-related peptidase C12	gene	DOID:10763	hypertension		ISO	RGD:1349866	D	RGD:1641794|PMID:17272402	20070822	RGD			
1303192	Klk1c12	kallikrein 1-related peptidase C12	gene	DOID:10763	hypertension		ISO	RGD:1349866	D	RGD:1641795|PMID:15905889	20070822	RGD		DNA:polymorphisms	
1303192	Klk1c12	kallikrein 1-related peptidase C12	gene	DOID:5844	myocardial infarction		ISO	RGD:1349866	D	RGD:1641799|PMID:17022964	20070822	RGD			
1303192	Klk1c12	kallikrein 1-related peptidase C12	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1349866	D	RGD:1641794|PMID:17272402	20070822	RGD			
1303192	Klk1c12	kallikrein 1-related peptidase C12	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1349866	D	RGD:1641797|PMID:17137568	20070822	RGD			
1303192	Klk1c12	kallikrein 1-related peptidase C12	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1349866	D	RGD:1641794|PMID:17272402	20070822	RGD			
1303194	Hyal4	hyaluronidase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303194	Hyal4	hyaluronidase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303195	Ddx56	DEAD-box helicase 56	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303195	Ddx56	DEAD-box helicase 56	gene	DOID:10534	stomach cancer		ISO	RGD:1349129	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303195	Ddx56	DEAD-box helicase 56	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303195	Ddx56	DEAD-box helicase 56	gene	DOID:3070	high grade glioma		ISO	RGD:1349129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303195	Ddx56	DEAD-box helicase 56	gene	DOID:4362	cervical cancer		ISO	RGD:1349129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303195	Ddx56	DEAD-box helicase 56	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303195	Ddx56	DEAD-box helicase 56	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303195	Ddx56	DEAD-box helicase 56	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303195	Ddx56	DEAD-box helicase 56	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303195	Ddx56	DEAD-box helicase 56	gene	DOID:9256	colorectal cancer		ISO	RGD:1349129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1303197	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303197	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303197	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353728	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303197	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303197	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303197	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:630	genetic disease		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1303197	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303197	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303197	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303197	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:9009067	Glycosylphosphatidylinositol Biosynthesis Defect 15		ISO	RGD:1353728	D	RGD:7240710	20190315	OMIM			
1303197	Gpaa1	glycosylphosphatidylinositol anchor attachment 1	gene	DOID:9009067	Glycosylphosphatidylinositol Biosynthesis Defect 15		ISO	RGD:1353728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | ClinVar Annotator: match by term: GPAA1-related condition | ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 15	PMID:25741868|PMID:28492532|PMID:29100095|PMID:32637629|PMID:34703884
1303198	Gcnt2	glucosaminyl (N-acetyl) transferase 2	gene	DOID:0110242	cataract 13 with adult i phenotype		ISO	RGD:1607088	D	RGD:7240710	20170111	OMIM			
1303198	Gcnt2	glucosaminyl (N-acetyl) transferase 2	gene	DOID:0110242	cataract 13 with adult i phenotype		ISO	RGD:1607088	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: ADULT i BLOOD GROUP PHENOTYPE | ClinVar Annotator: match by term: Blood group, I system | ClinVar Annotator: match by term: CATARACT 13 WITH ADULT i PHENOTYPE | ClinVar Annotator: match by term: Cataract 13 with adult I phenotype | ClinVar Annotator: match by term: Cataract 13 with adult i phenotype | ClinVar Annotator: match by term: GCNT2-related condition	PMID:11739194|PMID:12424189|PMID:12468428|PMID:15161861|PMID:17576681|PMID:21761136|PMID:22935719|PMID:25457163|PMID:25741868|PMID:28492532|PMID:29770612|PMID:29914532|PMID:9536098
1303198	Gcnt2	glucosaminyl (N-acetyl) transferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1607088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303198	Gcnt2	glucosaminyl (N-acetyl) transferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303198	Gcnt2	glucosaminyl (N-acetyl) transferase 2	gene	DOID:630	genetic disease		ISO	RGD:1607088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1303198	Gcnt2	glucosaminyl (N-acetyl) transferase 2	gene	DOID:83	cataract		ISO	RGD:1607088	D	RGD:8693611|PMID:15161861	20060127	RGD		DNA:nonsense mutation:exon:	
1303198	Gcnt2	glucosaminyl (N-acetyl) transferase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1607088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1303200	Ccl6	C-C motif chemokine ligand 6	gene	DOID:0060496	respiratory allergy		ISO	RGD:1553178	D	RGD:11554173	20251111	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085522
1303200	Ccl6	C-C motif chemokine ligand 6	gene	DOID:182	calcinosis		ISO	RGD:1553178	D	RGD:11554173	20251111	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
1303200	Ccl6	C-C motif chemokine ligand 6	gene	DOID:4079	heart valve disease		ISO	RGD:1553178	D	RGD:11554173	20251111	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
1303200	Ccl6	C-C motif chemokine ligand 6	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1553178	D	RGD:11554173	20251111	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303201	Sgce	sarcoglycan, epsilon	gene	DOID:0090033	myoclonic dystonia		ISO	RGD:1352882	D	RGD:11554173	20220705	CTD		CTD Direct Evidence: marker/mechanism	
1303201	Sgce	sarcoglycan, epsilon	gene	DOID:0090033	myoclonic dystonia		ISO	RGD:1352882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus-Dystonia	PMID:25741868|PMID:26046366|PMID:26467025|PMID:28492532|PMID:31186545|PMID:31449710|PMID:37688281
1303201	Sgce	sarcoglycan, epsilon	gene	DOID:0090034	myoclonic dystonia 11		ISO	RGD:1352882	D	RGD:7240710	20220629	OMIM			
1303201	Sgce	sarcoglycan, epsilon	gene	DOID:0090034	myoclonic dystonia 11		ISO	RGD:1352882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic dystonia 11 | ClinVar Annotator: match by term: SGCE-related condition	PMID:12821748|PMID:15389977|PMID:16199547|PMID:16240355|PMID:17296918|PMID:17576681|PMID:17853490|PMID:19066193|PMID:19117361|PMID:19133653|PMID:23365103|PMID:23677909|PMID:24297365|PMID:25209853|PMID:25406829|PMID:25741868|PMID:25868953|PMID:26046366|PMID:26467025|PMID:27441098|PMID:28492532|PMID:29801903|PMID:31186545|PMID:31449710|PMID:32955639|PMID:37688281|PMID:9536098
1303201	Sgce	sarcoglycan, epsilon	gene	DOID:0090034	myoclonic dystonia 11		ISS	RGD:1553181	D	RGD:13592920	20230718	MouseDO		OMIM:159900	
1303201	Sgce	sarcoglycan, epsilon	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1352882	D	RGD:152995287|PMID:28035468	20220614	RGD		mRNA:altered expression:stomach tumor (human)	
1303201	Sgce	sarcoglycan, epsilon	gene	DOID:630	genetic disease		ISO	RGD:1352882	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1303201	Sgce	sarcoglycan, epsilon	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1303201	Sgce	sarcoglycan, epsilon	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303204	Arfip2	ARF interacting protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303204	Arfip2	ARF interacting protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303204	Arfip2	ARF interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303204	Arfip2	ARF interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303204	Arfip2	ARF interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303204	Arfip2	ARF interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303204	Arfip2	ARF interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303205	Phf1	PHD finger protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303205	Phf1	PHD finger protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1344150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303205	Phf1	PHD finger protein 1	gene	DOID:3275	thymoma		ISO	RGD:1344150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303205	Phf1	PHD finger protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303205	Phf1	PHD finger protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303205	Phf1	PHD finger protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303206	Usp54	ubiquitin specific peptidase 54	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303206	Usp54	ubiquitin specific peptidase 54	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303206	Usp54	ubiquitin specific peptidase 54	gene	DOID:10534	stomach cancer		ISO	RGD:1343407	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303206	Usp54	ubiquitin specific peptidase 54	gene	DOID:1324	lung cancer		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303206	Usp54	ubiquitin specific peptidase 54	gene	DOID:1909	melanoma		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303206	Usp54	ubiquitin specific peptidase 54	gene	DOID:4362	cervical cancer		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303206	Usp54	ubiquitin specific peptidase 54	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303206	Usp54	ubiquitin specific peptidase 54	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303206	Usp54	ubiquitin specific peptidase 54	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303207	mt-Tl1	mitochondrially encoded tRNA leucine 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1353707	D	RGD:1580746|PMID:7906985	19990101	RGD			
1303209	Pcdh7	protocadherin 7	gene	DOID:1115	sarcoma		ISO	RGD:1346973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303209	Pcdh7	protocadherin 7	gene	DOID:4362	cervical cancer		ISO	RGD:1346973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303209	Pcdh7	protocadherin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303209	Pcdh7	protocadherin 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303209	Pcdh7	protocadherin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1348852	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:3082	interstitial lung disease		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Interstitial pneumonitis	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:3275	thymoma		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1348852	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:5082	liver cirrhosis		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cirrhosis of liver	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:9006686	Rajab Interstitial Lung Disease with Brain Calcifications 1		ISO	RGD:1348852	D	RGD:7240710	20190315	OMIM			
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:9006686	Rajab Interstitial Lung Disease with Brain Calcifications 1		ISO	RGD:1348852	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES | ClinVar Annotator: match by term: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1	PMID:25741868|PMID:28492532|PMID:30014610|PMID:35937029
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303210	Farsb	phenylalanyl-tRNA synthetase subunit beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605037	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24784135|PMID:25741868|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:1324	lung cancer		ISO	RGD:1605037	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24784135|PMID:25741868|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:1909	melanoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1605037	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:24784135|PMID:25741868|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:3275	thymoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605037	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:24784135|PMID:25741868|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:4621	holoprosencephaly		ISS	RGD:1619812	D	RGD:13592920	20191010	MouseDO			
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605037	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:630	genetic disease		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17711852|PMID:25741868|PMID:26050939|PMID:27848944|PMID:28492532|PMID:39655768
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9002189	High Myopia		ISO	RGD:1605037	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605037	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:1605037	D	RGD:8554872	20180515	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:25804403|PMID:26350515
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9006299	autosomal recessive intellectual developmental disorder 42		ISO	RGD:1605037	D	RGD:7240710	20140911	OMIM			
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9006299	autosomal recessive intellectual developmental disorder 42		ISO	RGD:1605037	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mental retardation, autosomal recessive 42 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities | ClinVar Annotator: match by term: PGAP1-related condition	PMID:17711852|PMID:24784135|PMID:25741868|PMID:25804403|PMID:25823418|PMID:26350515|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605037	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24784135|PMID:25741868|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605037	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24784135|PMID:25741868|PMID:28492532
1303213	Pgap1	post-GPI attachment to proteins inositol deacylase 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1605037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
1303214	Emc10	ER membrane protein complex subunit 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303214	Emc10	ER membrane protein complex subunit 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303214	Emc10	ER membrane protein complex subunit 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602050	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:35346031|PMID:35684946
1303214	Emc10	ER membrane protein complex subunit 10	gene	DOID:1909	melanoma		ISO	RGD:1602050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303214	Emc10	ER membrane protein complex subunit 10	gene	DOID:3275	thymoma		ISO	RGD:1602050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303214	Emc10	ER membrane protein complex subunit 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303214	Emc10	ER membrane protein complex subunit 10	gene	DOID:630	genetic disease		ISO	RGD:1602050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:35684946
1303214	Emc10	ER membrane protein complex subunit 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303214	Emc10	ER membrane protein complex subunit 10	gene	DOID:9007229	Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures		ISO	RGD:1602050	D	RGD:7240710	20210414	OMIM			
1303214	Emc10	ER membrane protein complex subunit 10	gene	DOID:9007229	Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures		ISO	RGD:1602050	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: EMC10-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures	PMID:25741868|PMID:33531666|PMID:35346031|PMID:35684946
1303214	Emc10	ER membrane protein complex subunit 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303215	Krt86	keratin 86	gene	DOID:0050472	monilethrix		ISO	RGD:1348087	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303215	Krt86	keratin 86	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303215	Krt86	keratin 86	gene	DOID:0061145	monilethrix 1		ISO	RGD:1348087	D	RGD:7240710	20250423	OMIM			
1303215	Krt86	keratin 86	gene	DOID:0061145	monilethrix 1		ISO	RGD:1348087	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MONILETHRIX 1 | ClinVar Annotator: match by term: Monilethrix-1	PMID:10469314|PMID:10594761|PMID:25741868
1303215	Krt86	keratin 86	gene	DOID:1324	lung cancer		ISO	RGD:1348087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303215	Krt86	keratin 86	gene	DOID:3275	thymoma		ISO	RGD:1348087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303215	Krt86	keratin 86	gene	DOID:421	hair disease	susceptibility	ISO	RGD:1348087	D	RGD:1600198|PMID:9241275	20070302	RGD		protein:mutations: ; E410K, E410D; monilethrix, OMIM:158000	
1303215	Krt86	keratin 86	gene	DOID:4362	cervical cancer		ISO	RGD:1348087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303215	Krt86	keratin 86	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303215	Krt86	keratin 86	gene	DOID:5041	esophageal cancer		ISO	RGD:1348087	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303215	Krt86	keratin 86	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303215	Krt86	keratin 86	gene	DOID:630	genetic disease		ISO	RGD:1348087	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1303215	Krt86	keratin 86	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303216	Krt72	keratin 72	gene	DOID:1115	sarcoma		ISO	RGD:1605869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303216	Krt72	keratin 72	gene	DOID:4362	cervical cancer		ISO	RGD:1605869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303216	Krt72	keratin 72	gene	DOID:5041	esophageal cancer		ISO	RGD:1605869	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303216	Krt72	keratin 72	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303216	Krt72	keratin 72	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303216	Krt72	keratin 72	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303216	Krt72	keratin 72	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303218	Emcn	endomucin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303218	Emcn	endomucin	gene	DOID:1115	sarcoma		ISO	RGD:1602001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303218	Emcn	endomucin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303218	Emcn	endomucin	gene	DOID:3963	thyroid gland carcinoma	treatment	ISO	RGD:1602001	D	RGD:151665104|PMID:32626543	20220310	RGD			
1303218	Emcn	endomucin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303218	Emcn	endomucin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303218	Emcn	endomucin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303218	Emcn	endomucin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303218	Emcn	endomucin	gene	DOID:9256	colorectal cancer		ISO	RGD:1602001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1303219	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303219	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1604035	D	RGD:13463463|PMID:26740948	20171215	RGD		DNA:SNPs: :	
1303219	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:10534	stomach cancer		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303219	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303219	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:1115	sarcoma		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303219	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:1324	lung cancer		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303219	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303219	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1303219	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:4362	cervical cancer		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303219	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:5041	esophageal cancer		ISO	RGD:1604035	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303219	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303219	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303219	Samm50	SAMM50 sorting and assembly machinery component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303221	Ppic	peptidylprolyl isomerase C	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1344607	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:0050211	swine influenza	disease_progression	ISO	RGD:1347771	D	RGD:32716383|PMID:23028320	20200626	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:0050211	swine influenza	treatment	ISO	RGD:1347771	D	RGD:32716408|PMID:22281510	20200629	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:0060758	immunodeficiency with hyper-IgM type 2		ISO	RGD:1347771	D	RGD:7240710	20180829	OMIM			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:0060758	immunodeficiency with hyper-IgM type 2		ISO	RGD:1347771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyper IgM Syndrome Type 2 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 2 | ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 | ClinVar Annotator: match by term: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 2	PMID:11007475|PMID:11112359|PMID:12715918|PMID:12910268|PMID:14769937|PMID:14962793|PMID:15358621|PMID:15893695|PMID:16199547|PMID:16964591|PMID:17553565|PMID:17560278|PMID:17576681|PMID:18838546|PMID:20652909|PMID:21192628|PMID:22715099|PMID:23215867|PMID:23803409|PMID:24033266|PMID:24349193|PMID:24591601|PMID:25025377|PMID:25064858|PMID:25741868|PMID:26551569|PMID:27142677|PMID:27577878|PMID:28471629|PMID:28492532|PMID:32694097|PMID:32888943|PMID:33276124|PMID:33377626|PMID:34992599|PMID:35482138|PMID:35570134|PMID:37402930|PMID:39513285|PMID:9536098
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:0060758	immunodeficiency with hyper-IgM type 2		ISS	RGD:1551301	D	RGD:13592920	20230810	MouseDO		OMIM:605258	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:0080544	hyper IgM syndrome		ISO	RGD:1347771	D	RGD:11554173	20200303	CTD		CTD Direct Evidence: marker/mechanism	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1551301	D	RGD:11039456|PMID:20357822	20160303	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1347771	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23589568
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:12365	malaria		ISO	RGD:1551301	D	RGD:30310233|PMID:27980783	20200624	RGD		protein:increased expression: B cell	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:1273	respiratory syncytial virus infectious disease	treatment	ISO	RGD:1551301	D	RGD:127285642|PMID:27721128	20210624	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:2043	hepatitis B	treatment	ISO	RGD:1551301	D	RGD:30310232|PMID:28063995	20200624	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:2938	Epstein-Barr virus infectious disease		ISO	RGD:1347771	D	RGD:32716377|PMID:25099163	20200626	RGD		associated with malaria;mRNA:increased expression:B cell	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:2938	Epstein-Barr virus infectious disease		ISO	RGD:1347771	D	RGD:32716387|PMID:21697063	20200706	RGD		mRNA:increased expression:T cell, natural killer cell	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:2959	hyperimmunoglobulin syndrome		ISO	RGD:1347771	D	RGD:11039457|PMID:17553565	20160303	RGD		DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:2959	hyperimmunoglobulin syndrome		ISO	RGD:1347771	D	RGD:11039485|PMID:15372234	20160304	RGD		DNA:splice-site mutation:intron:IVS2+1G>T (human)	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:2959	hyperimmunoglobulin syndrome	onset	ISO	RGD:1347771	D	RGD:11039483|PMID:11112359	20160304	RGD		DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human)	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:2959	hyperimmunoglobulin syndrome	susceptibility	ISO	RGD:1347771	D	RGD:1598906|PMID:11007475	20061220	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1347771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:28492532
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:3310	atopic dermatitis		ISO	RGD:1347771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:28492532
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:3721	plasmacytoma	treatment	ISO	RGD:1551301	D	RGD:11039454|PMID:20404277	20160303	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:4029	gastritis		ISO	RGD:1551301	D	RGD:11039453|PMID:18716662	20160303	RGD		associated with Autoimmune Diseases	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:417	autoimmune disease		ISO	RGD:1347771	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21305519
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1347771	D	RGD:127285639|PMID:30219203	20210624	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:630	genetic disease		ISO	RGD:1347771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1551301	D	RGD:127285629|PMID:18997814	20210624	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:707	B-cell lymphoma		ISO	RGD:1551301	D	RGD:11039449|PMID:17251349	20160303	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:8577	ulcerative colitis		ISO	RGD:1347771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ulcerative colitis	PMID:28492532
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1347771	D	RGD:127285638|PMID:21538122	20210624	RGD		associated with stomach cancer;protein:increased expression:stomach (human)	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9000242	Lymphoma, AIDS-Related	disease_progression	ISO	RGD:1347771	D	RGD:32716407|PMID:18090274	20200629	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9000386	Polyomavirus Infections		ISO	RGD:1347771	D	RGD:30310234|PMID:28959124	20200624	RGD		associated with  Merkel cell carcinoma;protein:decreased expression::	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:1551301	D	RGD:11098923|PMID:26456931	20200626	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	disease_progression	ISO	RGD:1347771	D	RGD:11039455|PMID:21133730	20160303	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9002473	Blast Crisis		ISO	RGD:1347771	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21570118
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9003369	Strongylida Infections		ISO	RGD:1551301	D	RGD:32716404|PMID:23630966	20200629	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1347771	D	RGD:30296664|PMID:26219420	20200615	RGD		mRNA:increased expression:B cell	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1347771	D	RGD:32716380|PMID:20189883	20200626	RGD		mRNA, protein:increased expression:B cell, CD19-positive (human)	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:1347771	D	RGD:32716369|PMID:26946048	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9004092	cryoglobulinemic vasculitis		ISO	RGD:1347771	D	RGD:30296664|PMID:26219420	20200615	RGD		associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human)	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9005099	Salmonella Infections, Animal	severity	ISO	RGD:1551301	D	RGD:127285640|PMID:29743315	20210624	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9006644	Retroviridae Infections	exacerbates	ISO	RGD:1551301	D	RGD:127285628|PMID:16782033	20210624	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9006644	Retroviridae Infections	treatment	ISO	RGD:1551301	D	RGD:127285643|PMID:25378499	20210624	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9007339	Alphavirus Infections	severity	ISO	RGD:1551301	D	RGD:127285644|PMID:29321331	20210624	RGD			
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1347771	D	RGD:127285627|PMID:23591766	20210624	RGD		protein:increased expression:mucosa of stomach (human)	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1551301	D	RGD:32716386|PMID:31001826	20200626	RGD		mRNA:altered expression:Bcell,CD4Tcell	
1303222	Aicda	activation-induced cytidine deaminase	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:1347771	D	RGD:11039451|PMID:19759560	20160303	RGD			
1303226	Dnajc7	DnaJ heat shock protein family (Hsp40) member C7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303226	Dnajc7	DnaJ heat shock protein family (Hsp40) member C7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303226	Dnajc7	DnaJ heat shock protein family (Hsp40) member C7	gene	DOID:10534	stomach cancer		ISO	RGD:1349384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303226	Dnajc7	DnaJ heat shock protein family (Hsp40) member C7	gene	DOID:1115	sarcoma		ISO	RGD:1349384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303226	Dnajc7	DnaJ heat shock protein family (Hsp40) member C7	gene	DOID:1826	epilepsy		ISO	RGD:1349384	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868
1303226	Dnajc7	DnaJ heat shock protein family (Hsp40) member C7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303226	Dnajc7	DnaJ heat shock protein family (Hsp40) member C7	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1349384	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
1303226	Dnajc7	DnaJ heat shock protein family (Hsp40) member C7	gene	DOID:4362	cervical cancer		ISO	RGD:1349384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303226	Dnajc7	DnaJ heat shock protein family (Hsp40) member C7	gene	DOID:5041	esophageal cancer		ISO	RGD:1349384	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303226	Dnajc7	DnaJ heat shock protein family (Hsp40) member C7	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1349384	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1303226	Dnajc7	DnaJ heat shock protein family (Hsp40) member C7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303226	Dnajc7	DnaJ heat shock protein family (Hsp40) member C7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303226	Dnajc7	DnaJ heat shock protein family (Hsp40) member C7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303227	Fkbpl	FKBP prolyl isomerase like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303227	Fkbpl	FKBP prolyl isomerase like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303227	Fkbpl	FKBP prolyl isomerase like	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353952	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:20103631
1303228	Klk4	kallikrein-related peptidase 4	gene	DOID:0110057	amelogenesis imperfecta type 2A1		ISO	RGD:1353266	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303228	Klk4	kallikrein-related peptidase 4	gene	DOID:0110057	amelogenesis imperfecta type 2A1		ISO	RGD:1353266	D	RGD:7240710	20170503	OMIM			
1303228	Klk4	kallikrein-related peptidase 4	gene	DOID:0110057	amelogenesis imperfecta type 2A1		ISO	RGD:1353266	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1 | ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 | ClinVar Annotator: match by term: KLK4-related condition	PMID:25741868
1303228	Klk4	kallikrein-related peptidase 4	gene	DOID:10283	prostate cancer		ISO	RGD:1353266	D	RGD:2314854|PMID:17545602	20091130	RGD		protein:increased expression:prostate gland	
1303228	Klk4	kallikrein-related peptidase 4	gene	DOID:10283	prostate cancer		ISO	RGD:1353266	D	RGD:2314857|PMID:12370833	20091130	RGD			
1303228	Klk4	kallikrein-related peptidase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1353266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303228	Klk4	kallikrein-related peptidase 4	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1353266	D	RGD:2314853|PMID:18687310	20091130	RGD		mRNA, protein:increased expression:breast	
1303228	Klk4	kallikrein-related peptidase 4	gene	DOID:1612	breast cancer	severity	ISO	RGD:1353266	D	RGD:2314852|PMID:19190825	20091130	RGD			
1303228	Klk4	kallikrein-related peptidase 4	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1353266	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: amelogenesis imperfecta	
1303228	Klk4	kallikrein-related peptidase 4	gene	DOID:2394	ovarian cancer	severity	ISO	RGD:1353266	D	RGD:2314856|PMID:15262123	20091130	RGD			
1303228	Klk4	kallikrein-related peptidase 4	gene	DOID:630	genetic disease		ISO	RGD:1353266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1303231	Rasl11a	RAS-like family 11 member A	gene	DOID:289	endometriosis		ISO	RGD:1343885	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1303231	Rasl11a	RAS-like family 11 member A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303231	Rasl11a	RAS-like family 11 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303231	Rasl11a	RAS-like family 11 member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303231	Rasl11a	RAS-like family 11 member A	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1343885	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:30224643
1303232	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303232	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303232	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303232	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303232	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:1324	lung cancer		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303232	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:3275	thymoma		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303232	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:3652	Leigh disease		ISO	RGD:1353326	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868
1303232	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303232	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1303232	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303232	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303232	Pyroxd2	pyridine nucleotide-disulphide oxidoreductase domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303233	Fgfr1op2	FGFR1 oncogene partner 2	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1348205	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22875613
1303233	Fgfr1op2	FGFR1 oncogene partner 2	gene	DOID:4362	cervical cancer		ISO	RGD:1348205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303233	Fgfr1op2	FGFR1 oncogene partner 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348205	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303233	Fgfr1op2	FGFR1 oncogene partner 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303233	Fgfr1op2	FGFR1 oncogene partner 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303233	Fgfr1op2	FGFR1 oncogene partner 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303235	Hsd17b11	hydroxysteroid (17-beta) dehydrogenase 11	gene	DOID:10534	stomach cancer		ISO	RGD:1352920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303235	Hsd17b11	hydroxysteroid (17-beta) dehydrogenase 11	gene	DOID:1909	melanoma		ISO	RGD:1352920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303235	Hsd17b11	hydroxysteroid (17-beta) dehydrogenase 11	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303235	Hsd17b11	hydroxysteroid (17-beta) dehydrogenase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303235	Hsd17b11	hydroxysteroid (17-beta) dehydrogenase 11	gene	DOID:9256	colorectal cancer		ISO	RGD:1352920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349366	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:0060058	lymphoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:0070790	congenital nonprogressive movement disorder with ataxia and eye movement abnormalities		ISO	RGD:1349366	D	RGD:7240710	20260805	OMIM			
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:0070790	congenital nonprogressive movement disorder with ataxia and eye movement abnormalities		ISO	RGD:1349366	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MOVEMENT DISORDER, CONGENITAL NONPROGRESSIVE, WITH ATAXIA AND EYE MOVEMENT ABNORMALITIES	PMID:25741868|PMID:41265421|PMID:41265451
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349366	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:3070	high grade glioma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:480	movement disease		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1349366	D	RGD:8554872	20190507	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1349366	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35220427
1303236	Esrrg	estrogen-related receptor gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:0050729	Chanarin-Dorfman syndrome		ISO	RGD:1342875	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:0050729	Chanarin-Dorfman syndrome		ISO	RGD:1342875	D	RGD:7240710	20130221	OMIM			
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:0050729	Chanarin-Dorfman syndrome		ISO	RGD:1342875	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis	PMID:11590543|PMID:14708602|PMID:15136565|PMID:16199547|PMID:18339307|PMID:18682927|PMID:20022472|PMID:20520629|PMID:22373837|PMID:25741868|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:3354610|PMID:6181472
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:0050729	Chanarin-Dorfman syndrome		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ABHD5-related condition | ClinVar Annotator: match by term: CHANARIN-DORFMAN SYNDROME | ClinVar Annotator: match by term: Chanarin-Dorfman Syndrome | ClinVar Annotator: match by term: Chanarin-Dorfman syndrome | ClinVar Annotator: match by term: Dorfman-Chanarin disease | ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis	PMID:11590543|PMID:14708602|PMID:15136565|PMID:16199547|PMID:18339307|PMID:18682927|PMID:22373837|PMID:25741868|PMID:26547112|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:3354610|PMID:545139|PMID:6181472|PMID:7362208
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:0050729	Chanarin-Dorfman syndrome		ISO	RGD:1342875	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ABHD5-related condition | ClinVar Annotator: match by term: CHANARIN-DORFMAN SYNDROME | ClinVar Annotator: match by term: Chanarin-Dorfman Syndrome | ClinVar Annotator: match by term: Chanarin-Dorfman syndrome | ClinVar Annotator: match by term: Dorfman-Chanarin disease | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis	PMID:11590543|PMID:14708602|PMID:16199547|PMID:18339307|PMID:18682927|PMID:22373837|PMID:25741868|PMID:26547112|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:6181472
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:0050729	Chanarin-Dorfman syndrome		ISS	RGD:1551382	D	RGD:13592920	20230718	MouseDO		OMIM:275630	
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:0060656	autosomal recessive congenital ichthyosis 1	susceptibility	ISO	RGD:1342875	D	RGD:1598668|PMID:11590543	20061211	RGD			
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:1697	ichthyosis		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:22373837|PMID:25741868|PMID:28492532
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342875	D	RGD:153002829|PMID:30842415	20220720	RGD		human cells in mouse model	
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:234	colon adenocarcinoma	disease_progression	ISO	RGD:1342875	D	RGD:153002829|PMID:30842415	20220720	RGD		mRNA:decreased expression:colon (human)	
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1303237	Abhd5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	gene	DOID:9006215	Exfoliative Dermatitis		ISO	RGD:1342875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Erythroderma	PMID:22373837|PMID:25741868|PMID:28492532
1303238	Atp6v0e2	ATPase, H+ transporting V0 subunit e2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303238	Atp6v0e2	ATPase, H+ transporting V0 subunit e2	gene	DOID:4362	cervical cancer		ISO	RGD:1606137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303238	Atp6v0e2	ATPase, H+ transporting V0 subunit e2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303238	Atp6v0e2	ATPase, H+ transporting V0 subunit e2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303238	Atp6v0e2	ATPase, H+ transporting V0 subunit e2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1303239	Dnmt3l	DNA methyltransferase 3 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303239	Dnmt3l	DNA methyltransferase 3 like	gene	DOID:1909	melanoma		ISO	RGD:1343645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303239	Dnmt3l	DNA methyltransferase 3 like	gene	DOID:3275	thymoma		ISO	RGD:1343645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303239	Dnmt3l	DNA methyltransferase 3 like	gene	DOID:8456	choline deficiency disease		IEP		D	RGD:9588267|PMID:17724018	20141023	RGD		mRNA:increased expression:liver:	
1303239	Dnmt3l	DNA methyltransferase 3 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:0080600	COVID-19		ISO	RGD:1344647	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1344647	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25194279
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:3070	high grade glioma		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:3151	skin squamous cell carcinoma		ISO	RGD:1344647	D	RGD:28867225|PMID:30972880	20200604	RGD		DNA:mutation:cds: p.Ala40Glu (human)	
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:3151	skin squamous cell carcinoma		ISO	RGD:1344647	D	RGD:28867226|PMID:25194279	20200604	RGD		DNA:mutation:cds: p.Ser24Phe(human)	
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:3275	thymoma		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:8866	actinic keratosis	severity	ISO	RGD:1344647	D	RGD:28867225|PMID:30972880	20200604	RGD		DNA:mutation:cds: p.Ala40Glu (human)	
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:9000886	Roifman-Chitayat Syndrome		ISO	RGD:1344647	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:9000886	Roifman-Chitayat Syndrome		ISO	RGD:1344647	D	RGD:7240710	20210505	OMIM			
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303240	Knstrn	kinetochore-localized astrin/SPAG5 binding protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1344647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1303241	Bace2	beta-secretase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1303241	Bace2	beta-secretase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303241	Bace2	beta-secretase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1350115	D	RGD:13782172|PMID:22074738	20180827	RGD		mRNA,protein:increased expression:gyrus:	
1303241	Bace2	beta-secretase 2	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1350115	D	RGD:13782180|PMID:16023140	20180827	RGD		DNA:SNP,haplotype:exon:	
1303241	Bace2	beta-secretase 2	gene	DOID:1115	sarcoma		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1303241	Bace2	beta-secretase 2	gene	DOID:1324	lung cancer		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303241	Bace2	beta-secretase 2	gene	DOID:1909	melanoma		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303241	Bace2	beta-secretase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303241	Bace2	beta-secretase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1303241	Bace2	beta-secretase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350115	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303241	Bace2	beta-secretase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303241	Bace2	beta-secretase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303241	Bace2	beta-secretase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303241	Bace2	beta-secretase 2	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1350115	D	RGD:13782172|PMID:22074738	20180827	RGD		mRNA,protein, activity:increased expression, increased activity:gyrus:	
1303241	Bace2	beta-secretase 2	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:1551409	D	RGD:13782177|PMID:28337562	20180827	RGD			
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:0060074	ductal carcinoma in situ	disease_progression	ISO	RGD:1606032	D	RGD:2314849|PMID:12788170	20091130	RGD		mRNA:decreased expression:breast	
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:1606032	D	RGD:2314851|PMID:11920956	20091130	RGD		DNA:SNP:exon:p.A50S (human)	
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1606032	D	RGD:2314846|PMID:18766180	20091130	RGD			
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:363	uterine cancer		ISO	RGD:1606032	D	RGD:2314848|PMID:16647913	20091130	RGD		mRNA, protein:increased expression:endometrium, serum	
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:4362	cervical cancer		ISO	RGD:1606032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1606032	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606032	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17182177
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1606032	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20686372
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1606032	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:1606032	D	RGD:2314851|PMID:11920956	20091130	RGD		mRNA, protein:decreased expression:testis	
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606032	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16800735
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606032	D	RGD:2314845|PMID:19150938	20091130	RGD		DNA:hypermethylation:exon (human)	
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606032	D	RGD:2314847|PMID:17585892	20091130	RGD			
1303242	Klk10	kallikrein related-peptidase 10	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:1606032	D	RGD:2314850|PMID:12087468	20091130	RGD			
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:0061026	hereditary pyropoikilocytosis		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PYROPOIKILOCYTOSIS, HEREDITARY	
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:0110917	hereditary spherocytosis type 2		ISO	RGD:1349727	D	RGD:7240710	20171011	OMIM			
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:0110917	hereditary spherocytosis type 2		ISO	RGD:1349727	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition	PMID:11703334|PMID:1391962|PMID:1498324|PMID:19168783|PMID:25741868|PMID:26830532|PMID:27292444|PMID:28492532|PMID:29396846|PMID:29758562|PMID:32392960|PMID:32436265|PMID:34140613|PMID:37516005|PMID:39521890|PMID:40327078|PMID:6426236|PMID:8018926|PMID:8844207|PMID:9714702|PMID:9887280
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:0110918	hereditary spherocytosis type 3		ISO	RGD:1349727	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hereditary spherocytosis type 3	
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:1115	sarcoma		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:11244	neonatal anemia		ISO	RGD:1349727	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9005995
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:1247	blood coagulation disease		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1349727	D	RGD:11059526|PMID:19538529	20160415	RGD		mRNA:decreased expression:erythrocyte:	
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1349727	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8102379|PMID:19538529
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis	PMID:1391962|PMID:1498324|PMID:25741868|PMID:26830532|PMID:27292444|PMID:28492532|PMID:8844207
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:1324	lung cancer		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:1909	melanoma		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:2355	anemia		ISO	RGD:1349727	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:2373	hereditary elliptocytosis		ISO	RGD:1349727	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:1975598
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:3275	thymoma		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:4362	cervical cancer		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:5041	esophageal cancer		ISO	RGD:1349727	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:583	hemolytic anemia		ISO	RGD:1349727	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9005995
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:583	hemolytic anemia		ISO	RGD:1349727	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:25741868
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:630	genetic disease		ISO	RGD:1349727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:865	vasculitis		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:1391962|PMID:1498324|PMID:25741868|PMID:26830532|PMID:27292444|PMID:28492532|PMID:8844207
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:9000177	Chudley-Mccullough syndrome		ISO	RGD:1349727	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 82	PMID:1391962|PMID:1498324|PMID:25741868|PMID:26830532|PMID:27292444|PMID:28492532|PMID:8844207
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:9002532	Neonatal Hyperbilirubinemia		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hyperbilirubinemia	PMID:25741868
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:9003801	Elliptocytosis 3		ISO	RGD:1349727	D	RGD:7240710	20190315	OMIM			
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:9003801	Elliptocytosis 3		ISO	RGD:1349727	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ELLIPTOCYTOSIS 3 | ClinVar Annotator: match by term: Elliptocytosis 3	PMID:19168783|PMID:25741868|PMID:27667160|PMID:28492532|PMID:29396846|PMID:31827275|PMID:32436265|PMID:36902777|PMID:37516005|PMID:9887280
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303243	Sptb	spectrin, beta, erythrocytic	gene	DOID:9993	hypoglycemia		ISO	RGD:1349727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
1303244	Kprp	keratinocyte proline-rich protein	gene	DOID:10283	prostate cancer		ISO	RGD:1353027	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1303244	Kprp	keratinocyte proline-rich protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303245	Rtn2	reticulon 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176
1303245	Rtn2	reticulon 2	gene	DOID:0060260	ptosis		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1303245	Rtn2	reticulon 2	gene	DOID:0060261	congenital ptosis		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ptosis	PMID:25741868
1303245	Rtn2	reticulon 2	gene	DOID:0110765	hereditary spastic paraplegia 12		ISO	RGD:1351891	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303245	Rtn2	reticulon 2	gene	DOID:0110765	hereditary spastic paraplegia 12		ISO	RGD:1351891	D	RGD:7240710	20130221	OMIM			
1303245	Rtn2	reticulon 2	gene	DOID:0110765	hereditary spastic paraplegia 12		ISO	RGD:1351891	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 | ClinVar Annotator: match by term: RTN2-related condition | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT	PMID:17576681|PMID:22232211|PMID:24123792|PMID:25741868|PMID:27165006|PMID:28492532|PMID:38527963|PMID:9536098
1303245	Rtn2	reticulon 2	gene	DOID:0111193	facioscapulohumeral muscular dystrophy 2		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weakness of facial musculature	PMID:25741868
1303245	Rtn2	reticulon 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303245	Rtn2	reticulon 2	gene	DOID:1143	exotropia		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
1303245	Rtn2	reticulon 2	gene	DOID:11830	myopia		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1303245	Rtn2	reticulon 2	gene	DOID:1909	melanoma		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303245	Rtn2	reticulon 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176
1303245	Rtn2	reticulon 2	gene	DOID:3275	thymoma		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176
1303245	Rtn2	reticulon 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351891	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303245	Rtn2	reticulon 2	gene	DOID:607	paraplegia		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:17576681|PMID:22232211|PMID:24123792|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28166811|PMID:28492532|PMID:29970176|PMID:35684947|PMID:38527963|PMID:9536098
1303245	Rtn2	reticulon 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303245	Rtn2	reticulon 2	gene	DOID:630	genetic disease		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1303245	Rtn2	reticulon 2	gene	DOID:9000641	Pain		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:25741868
1303245	Rtn2	reticulon 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1303245	Rtn2	reticulon 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1303245	Rtn2	reticulon 2	gene	DOID:9006617	Fatigue		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868
1303245	Rtn2	reticulon 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176
1303245	Rtn2	reticulon 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1303245	Rtn2	reticulon 2	gene	DOID:9008520	Chronic Pain		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic pain	PMID:25741868
1303245	Rtn2	reticulon 2	gene	DOID:9008910	autosomal recessive distal hereditary motor neuronopathy 11		ISO	RGD:1351891	D	RGD:7240710	20240717	OMIM			
1303245	Rtn2	reticulon 2	gene	DOID:9008910	autosomal recessive distal hereditary motor neuronopathy 11		ISO	RGD:1351891	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 11, WITH SPASTICITY	
1303245	Rtn2	reticulon 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176
1303246	Dek	DEK proto-oncogene	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303246	Dek	DEK proto-oncogene	gene	DOID:10534	stomach cancer		ISO	RGD:1349075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303246	Dek	DEK proto-oncogene	gene	DOID:1324	lung cancer		ISO	RGD:1349075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303246	Dek	DEK proto-oncogene	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1303246	Dek	DEK proto-oncogene	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303246	Dek	DEK proto-oncogene	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1349075	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
1303246	Dek	DEK proto-oncogene	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1349075	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:21291860|PMID:27811057
1303246	Dek	DEK proto-oncogene	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1349075	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
1303246	Dek	DEK proto-oncogene	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1349075	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
1303246	Dek	DEK proto-oncogene	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303246	Dek	DEK proto-oncogene	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303247	Slc25a47	solute carrier family 25, member 47	gene	DOID:10283	prostate cancer		ISO	RGD:1345966	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1303247	Slc25a47	solute carrier family 25, member 47	gene	DOID:10283	prostate cancer		ISO	RGD:1345966	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1303247	Slc25a47	solute carrier family 25, member 47	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345966	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1303247	Slc25a47	solute carrier family 25, member 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303248	Jam3	junctional adhesion molecule 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1346212	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1303248	Jam3	junctional adhesion molecule 3	gene	DOID:11446	sciatic neuropathy		IEP		D	RGD:7488944|PMID:22950044	20131206	RGD			
1303248	Jam3	junctional adhesion molecule 3	gene	DOID:1909	melanoma		ISO	RGD:1346212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303248	Jam3	junctional adhesion molecule 3	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1551450	D	RGD:7488919|PMID:16297198	20131205	RGD			
1303248	Jam3	junctional adhesion molecule 3	gene	DOID:418	systemic scleroderma		ISO	RGD:1346212	D	RGD:7488920|PMID:23001478	20131205	RGD		protein:increased expression:skin	
1303248	Jam3	junctional adhesion molecule 3	gene	DOID:418	systemic scleroderma		ISO	RGD:1346212	D	RGD:7488937|PMID:19439502	20131206	RGD		protein:decreased expression:skin, endothelial cell	
1303248	Jam3	junctional adhesion molecule 3	gene	DOID:5419	schizophrenia		ISO	RGD:1346212	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1303248	Jam3	junctional adhesion molecule 3	gene	DOID:630	genetic disease		ISO	RGD:1346212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1303248	Jam3	junctional adhesion molecule 3	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:1551450	D	RGD:7488935|PMID:22323465	20131206	RGD			
1303248	Jam3	junctional adhesion molecule 3	gene	DOID:9002502	Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts		ISO	RGD:1346212	D	RGD:7240710	20130221	OMIM			
1303248	Jam3	junctional adhesion molecule 3	gene	DOID:9002502	Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts		ISO	RGD:1346212	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS | ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | ClinVar Annotator: match by term: JAM3-related condition | ClinVar Annotator: match by term: Porencephaly-microcephaly-bilateral congenital cataract syndrome	PMID:21109224|PMID:25741868|PMID:25741869|PMID:28492532
1303248	Jam3	junctional adhesion molecule 3	gene	DOID:9003690	Carcinoma, Lewis Lung		ISO	RGD:1551450	D	RGD:7488936|PMID:15994945	20131206	RGD			
1303248	Jam3	junctional adhesion molecule 3	gene	DOID:9007748	Retinal Neovascularization		ISO	RGD:1551450	D	RGD:7488936|PMID:15994945	20131206	RGD			
1303249	Vkorc1l1	vitamin K epoxide reductase complex subunit 1L1	gene	DOID:10283	prostate cancer		ISO	RGD:1353419	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1303250	Zmynd10	zinc finger, MYND-type containing 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303250	Zmynd10	zinc finger, MYND-type containing 10	gene	DOID:0110597	primary ciliary dyskinesia 22		ISO	RGD:1351816	D	RGD:7240710	20140911	OMIM			
1303250	Zmynd10	zinc finger, MYND-type containing 10	gene	DOID:0110597	primary ciliary dyskinesia 22		ISO	RGD:1351816	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 22 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 | ClinVar Annotator: match by term: ZMYND10-related condition	PMID:23891469|PMID:23891471|PMID:25741868|PMID:28492532|PMID:31650533
1303250	Zmynd10	zinc finger, MYND-type containing 10	gene	DOID:0110597	primary ciliary dyskinesia 22		ISS	RGD:1551456	D	RGD:13592920	20230718	MouseDO		OMIM:615444	
1303250	Zmynd10	zinc finger, MYND-type containing 10	gene	DOID:1115	sarcoma		ISO	RGD:1351816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303250	Zmynd10	zinc finger, MYND-type containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303250	Zmynd10	zinc finger, MYND-type containing 10	gene	DOID:630	genetic disease		ISO	RGD:1351816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1303250	Zmynd10	zinc finger, MYND-type containing 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303250	Zmynd10	zinc finger, MYND-type containing 10	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1351816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:23891469|PMID:23891471|PMID:25741868|PMID:26824761|PMID:28492532|PMID:31879361|PMID:9536098
1303251	Mkrn1	makorin ring finger protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303251	Mkrn1	makorin ring finger protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303251	Mkrn1	makorin ring finger protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1347564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303251	Mkrn1	makorin ring finger protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303251	Mkrn1	makorin ring finger protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303251	Mkrn1	makorin ring finger protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303251	Mkrn1	makorin ring finger protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25217958
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25217958
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:0061220	pheochromocytoma/paraganglioma syndrome 5		ISO	RGD:1606319	D	RGD:8554872	20170207	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 5	
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:1606319	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 1	PMID:25741868
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:0070060	autosomal dominant intellectual developmental disorder 30		ISO	RGD:1606319	D	RGD:7240710	20170510	OMIM			
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:0070060	autosomal dominant intellectual developmental disorder 30		ISO	RGD:1606319	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 30 | ClinVar Annotator: match by term: ZMYND11-related condition	PMID:22542183|PMID:25217958|PMID:25281490|PMID:25741868|PMID:25741899|PMID:27334371|PMID:27626064|PMID:28191890|PMID:28492532|PMID:28708303|PMID:28933030|PMID:31618753|PMID:34216016|PMID:35172867|PMID:38290943|PMID:39678379|PMID:41652659
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25217958
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:10534	stomach cancer		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:1059	intellectual disability		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25217958|PMID:25741868|PMID:28492532|PMID:31618753|PMID:34216016
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:12849	autistic disorder		ISO	RGD:1606319	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25217958
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:12849	autistic disorder		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25217958
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:13922	eosinophilic esophagitis		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eosinophilic esophagitis	PMID:25217958
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:1826	epilepsy		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: epilepsy	PMID:22542183|PMID:24463507|PMID:25217958|PMID:25741868|PMID:27626064|PMID:28492532|PMID:31618753|PMID:32097528|PMID:34216016
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25217958
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:3275	thymoma		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:480	movement disease		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25217958
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:540	strabismus		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:5419	schizophrenia		ISO	RGD:1606319	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:630	genetic disease		ISO	RGD:1606319	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25217958|PMID:25281490|PMID:25741868|PMID:28492532|PMID:31618753|PMID:38290943|PMID:39678379
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25217958
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25217958|PMID:25741868
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25217958|PMID:25741868|PMID:28492532|PMID:34216016
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9005077	Joint Instability		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25217958
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25217958
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9007573	Flatfoot		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9007661	Dwarfism		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25217958
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:22542183|PMID:25217958|PMID:25741868|PMID:27626064|PMID:28492532|PMID:39678379
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9008268	Enuresis		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	PMID:25217958|PMID:25741868|PMID:28492532|PMID:34216016
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9008879	Self Mutilation		ISO	RGD:1606319	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Self-mutilation	PMID:25741868
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9834	hyperopia		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1303252	Zmynd11	zinc finger, MYND-type containing 11	gene	DOID:9970	obesity		ISO	RGD:1606319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605346	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:0080307	myofibrillar myopathy		ISO	RGD:1605346	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:0080308	myofibrillar myopathy 8		ISO	RGD:1605346	D	RGD:7240710	20190315	OMIM			
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:0080308	myofibrillar myopathy 8		ISO	RGD:1605346	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 8 | ClinVar Annotator: match by term: Myofibrillar myopathy 8 | ClinVar Annotator: match by term: Myopathy, myofibrillar, 8 | ClinVar Annotator: match by term: PYROXD1-related condition	PMID:17576681|PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607|PMID:9536098
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1605346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1605346	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1605346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:3275	thymoma		ISO	RGD:1605346	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:423	myopathy		ISO	RGD:1605346	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:480	movement disease		ISO	RGD:1605346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605346	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:26888465	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition	PMID:25741868|PMID:26467025|PMID:32566746
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:630	genetic disease		ISO	RGD:1605346	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:767	muscular atrophy		ISO	RGD:1605346	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1605346	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9000495	Tremor		ISO	RGD:1605346	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9000590	Dyspnea		ISO	RGD:1605346	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9000641	Pain		ISO	RGD:1605346	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pain	PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1605346	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1605346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9003760	Myalgia		ISO	RGD:1605346	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1605346	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605346	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Progressive muscle weakness	PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9006743	Spasm		ISO	RGD:1605346	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605346	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:28492532|PMID:30224651
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605346	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25741868|PMID:28492532|PMID:28724667|PMID:29351780|PMID:30224651|PMID:32566746
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605346	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:15096578|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28724667|PMID:29351780|PMID:30224651|PMID:32566746|PMID:33471991
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605346	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:15096578|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28724667|PMID:29351780|PMID:30224651|PMID:32566746|PMID:33471991|PMID:35264596
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605346	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:26467025|PMID:28492532|PMID:30224651|PMID:35264596
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605346	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532|PMID:30224651|PMID:35264596
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1605346	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1303253	Pyroxd1	pyridine nucleotide-disulphide oxidoreductase domain 1	gene	DOID:9884	muscular dystrophy		ISO	RGD:1605346	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:31455395|PMID:32037607
1303254	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303254	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303254	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:1909	melanoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303254	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303254	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1345232	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303254	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303254	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1345232	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1303254	Zdhhc23	zDHHC palmitoyltransferase 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:10534	stomach cancer		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:10591	pre-eclampsia		ISO	RGD:1352969	D	RGD:11554173	20220111	CTD		CTD Direct Evidence: marker/mechanism	PMID:34520790
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:1115	sarcoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:3275	thymoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:4362	cervical cancer		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:6039	uveal melanoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303255	Eif3d	eukaryotic translation initiation factor 3, subunit D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303256	Prss27	serine protease 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303256	Prss27	serine protease 27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303256	Prss27	serine protease 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:10534	stomach cancer		ISO	RGD:1602304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:1115	sarcoma		ISO	RGD:1602304	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:1909	melanoma		ISO	RGD:1602304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:3275	thymoma		ISO	RGD:1602304	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:4362	cervical cancer		ISO	RGD:1602304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1602304	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:6039	uveal melanoma		ISO	RGD:1602304	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1303257	Zc3h18	zinc finger CCCH-type containing 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303258	Mid1ip1	MID1 interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303258	Mid1ip1	MID1 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303258	Mid1ip1	MID1 interacting protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1344749	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303258	Mid1ip1	MID1 interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303259	Atp5mg	ATP synthase membrane subunit G	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1352647	D	RGD:13792588|PMID:28474567	20190809	RGD			
1303260	Tomm22	translocase of outer mitochondrial membrane 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303260	Tomm22	translocase of outer mitochondrial membrane 22	gene	DOID:1115	sarcoma		ISO	RGD:1342792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303260	Tomm22	translocase of outer mitochondrial membrane 22	gene	DOID:5041	esophageal cancer		ISO	RGD:1342792	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303260	Tomm22	translocase of outer mitochondrial membrane 22	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303260	Tomm22	translocase of outer mitochondrial membrane 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303261	Rtcb	RNA 2',3'-cyclic phosphate and 5'-OH ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303261	Rtcb	RNA 2',3'-cyclic phosphate and 5'-OH ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1605075	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303261	Rtcb	RNA 2',3'-cyclic phosphate and 5'-OH ligase	gene	DOID:1909	melanoma		ISO	RGD:1605075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303261	Rtcb	RNA 2',3'-cyclic phosphate and 5'-OH ligase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303261	Rtcb	RNA 2',3'-cyclic phosphate and 5'-OH ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1605075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303261	Rtcb	RNA 2',3'-cyclic phosphate and 5'-OH ligase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303261	Rtcb	RNA 2',3'-cyclic phosphate and 5'-OH ligase	gene	DOID:5041	esophageal cancer		ISO	RGD:1605075	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303261	Rtcb	RNA 2',3'-cyclic phosphate and 5'-OH ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303261	Rtcb	RNA 2',3'-cyclic phosphate and 5'-OH ligase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303261	Rtcb	RNA 2',3'-cyclic phosphate and 5'-OH ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303261	Rtcb	RNA 2',3'-cyclic phosphate and 5'-OH ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303261	Rtcb	RNA 2',3'-cyclic phosphate and 5'-OH ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1347109	D	RGD:405866369|PMID:17761687	20240628	RGD		DNA:SNPs:introns,exon:	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:0050742	nicotine dependence		ISO	RGD:1347109	D	RGD:401959295|PMID:25273375	20240118	RGD		DNA:haplotype: :rs2282511(human)	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1347109	D	RGD:401959319|PMID:17085484	20240122	RGD		DNA:SNPs,haplotype:introns,intergenics:multiple	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1347109	D	RGD:405866370|PMID:21168125	20240628	RGD		DNA:SNPs::	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1347109	D	RGD:405866371|PMID:30104163	20240628	RGD		DNA:SNP: :rs2236709(human)	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:0111857	primary ciliary dyskinesia 45		ISO	RGD:1347109	D	RGD:7240710	20200318	OMIM			
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:0111857	primary ciliary dyskinesia 45		ISO	RGD:1347109	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 45 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 45, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45 | ClinVar Annotator: match by term: TTC12-related condition	PMID:25741868
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:10534	stomach cancer		ISO	RGD:1347109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:1324	lung cancer		ISO	RGD:1347109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:3275	thymoma		ISO	RGD:1347109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1347109	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:630	genetic disease		ISO	RGD:1347109	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1347109	D	RGD:405866376|PMID:17657212	20240701	RGD		DNA:hypermethylation:5'end:CpG dinucleotide	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:9974	drug dependence		ISO	RGD:1347109	D	RGD:401959320|PMID:18828801	20240122	RGD		associated with alcohol dependence;DNA:haplotype:exon:	
1303264	Ttc12	tetratricopeptide repeat domain 12	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:1347109	D	RGD:401959304|PMID:23303482	20240118	RGD		DNA:SNP:5'UTR,intron:rs7130431(human)	
1303268	Slc38a7	solute carrier family 38, member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303268	Slc38a7	solute carrier family 38, member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303268	Slc38a7	solute carrier family 38, member 7	gene	DOID:0080600	COVID-19		ISO	RGD:1602480	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1303268	Slc38a7	solute carrier family 38, member 7	gene	DOID:10534	stomach cancer		ISO	RGD:1602480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303268	Slc38a7	solute carrier family 38, member 7	gene	DOID:3275	thymoma		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303268	Slc38a7	solute carrier family 38, member 7	gene	DOID:4362	cervical cancer		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303268	Slc38a7	solute carrier family 38, member 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303268	Slc38a7	solute carrier family 38, member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1602480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303268	Slc38a7	solute carrier family 38, member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303268	Slc38a7	solute carrier family 38, member 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303268	Slc38a7	solute carrier family 38, member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303268	Slc38a7	solute carrier family 38, member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303269	Mpig6b	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:10534	stomach cancer		ISO	RGD:1354388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303269	Mpig6b	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:1115	sarcoma		ISO	RGD:1354388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303269	Mpig6b	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1354388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
1303269	Mpig6b	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:2394	ovarian cancer		ISO	RGD:1354388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1303269	Mpig6b	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:5041	esophageal cancer		ISO	RGD:1354388	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303269	Mpig6b	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:630	genetic disease		ISO	RGD:1354388	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1303269	Mpig6b	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:9002422	Thrombocytopenia, Anemia, and Myelofibrosis		ISO	RGD:1354388	D	RGD:7240710	20190315	OMIM			
1303269	Mpig6b	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:9002422	Thrombocytopenia, Anemia, and Myelofibrosis		ISO	RGD:1354388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MPIG6B-related condition | ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis	PMID:25741868|PMID:27743390|PMID:28492532
1303270	Prr3	proline rich 3	gene	DOID:10534	stomach cancer		ISO	RGD:1343981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303270	Prr3	proline rich 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303270	Prr3	proline rich 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303270	Prr3	proline rich 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1343981	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303270	Prr3	proline rich 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303270	Prr3	proline rich 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303270	Prr3	proline rich 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1303270	Prr3	proline rich 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303271	Kdf1	keratinocyte differentiation factor 1	gene	DOID:0050591	tooth agenesis		ISO	RGD:1602654	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia	PMID:25741868
1303271	Kdf1	keratinocyte differentiation factor 1	gene	DOID:0111652	ectodermal dysplasia 12		ISO	RGD:1602654	D	RGD:7240710	20190315	OMIM			
1303271	Kdf1	keratinocyte differentiation factor 1	gene	DOID:0111652	ectodermal dysplasia 12		ISO	RGD:1602654	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | ClinVar Annotator: match by term: KDF1-related condition	PMID:25741868|PMID:28492532|PMID:37144643
1303271	Kdf1	keratinocyte differentiation factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303271	Kdf1	keratinocyte differentiation factor 1	gene	DOID:630	genetic disease		ISO	RGD:1602654	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1303271	Kdf1	keratinocyte differentiation factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:0050716	methylmalonic aciduria and homocystinuria type cblD		ISO	RGD:1346733	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:0050716	methylmalonic aciduria and homocystinuria type cblD		ISO	RGD:1346733	D	RGD:7240710	20130221	OMIM			
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:0050716	methylmalonic aciduria and homocystinuria type cblD		ISO	RGD:1346733	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type	PMID:16199547|PMID:17576681|PMID:18385497|PMID:19058814|PMID:22156578|PMID:24033266|PMID:24722857|PMID:25155779|PMID:25741868|PMID:27252276|PMID:28492532|PMID:28939051|PMID:29620684|PMID:30041674|PMID:30097992|PMID:32252256|PMID:33552904|PMID:39494389|PMID:9536098
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:12450	pancytopenia		ISO	RGD:1346733	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:25741868
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:1909	melanoma		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:2355	anemia		ISO	RGD:1346733	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:4362	cervical cancer		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:630	genetic disease		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism	PMID:25741868|PMID:28492532
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:9009058	methylmalonic acidemia cblD type		ISO	RGD:1346733	D	RGD:7240710	20241009	OMIM			
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:9009058	methylmalonic acidemia cblD type		ISO	RGD:1346733	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, cblD TYPE	PMID:25741868
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:9009229	Homocystinuria-megaloblastic anemia cblD type		ISO	RGD:1346733	D	RGD:7240710	20241009	OMIM			
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:9009229	Homocystinuria-megaloblastic anemia cblD type		ISO	RGD:1346733	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblD TYPE	
1303272	Mmadhc	metabolism of cobalamin associated D	gene	DOID:9263	homocystinuria		ISO	RGD:1346733	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: homocystinuria	PMID:18385497|PMID:22156578|PMID:25155779|PMID:25741868|PMID:28492532
1303273	Pard6a	par-6 family cell polarity regulator alpha	gene	DOID:3275	thymoma		ISO	RGD:1345737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303273	Pard6a	par-6 family cell polarity regulator alpha	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1345737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1303273	Pard6a	par-6 family cell polarity regulator alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303273	Pard6a	par-6 family cell polarity regulator alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303273	Pard6a	par-6 family cell polarity regulator alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:0050696	fetal alcohol spectrum disorder		IEP		D	RGD:11344152|PMID:26509893	20240130	RGD		mRNA:increased expression:pituitary gland (rat)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1606037	D	RGD:9589082|PMID:19626461	20141106	RGD		DNA:SNP: : 39179G>T(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1606037	D	RGD:9589120|PMID:24625449	20141107	RGD			
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1606037	D	RGD:9589120|PMID:24625449	20141107	RGD			
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1606037	D	RGD:11554173	20220208	CTD		CTD Direct Evidence: marker/mechanism	PMID:32431489
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606037	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:25290267|PMID:35663546
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:0060918	facioscapulohumeral muscular dystrophy 4		ISO	RGD:1606037	D	RGD:7240710	20210825	OMIM			
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:0060918	facioscapulohumeral muscular dystrophy 4		ISO	RGD:1606037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC | ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 4, digenic	PMID:21796119|PMID:25741868|PMID:27153398|PMID:28492532|PMID:33004076
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:0090007	immunodeficiency-centromeric instability-facial anomalies syndrome		ISO	RGD:1606037	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Centromeric instability, immunodeficiency syndrome	PMID:10588719|PMID:17576681|PMID:17893117|PMID:17908720|PMID:24033266|PMID:24577265|PMID:25741868|PMID:28492532|PMID:28916186|PMID:29255178|PMID:31681265|PMID:32888943|PMID:36790564|PMID:9536098
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:0090008	immunodeficiency-centromeric instability-facial anomalies syndrome 1		ISO	RGD:1606037	D	RGD:1601084|PMID:10647011	20150730	RGD		DNA:missense mutations, nonsense mutation: :multiple	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:0090008	immunodeficiency-centromeric instability-facial anomalies syndrome 1		ISO	RGD:1606037	D	RGD:7240710	20130221	OMIM			
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:0090008	immunodeficiency-centromeric instability-facial anomalies syndrome 1		ISO	RGD:1606037	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 | ClinVar Annotator: match by term: Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16 | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | ClinVar Annotator: match by term: immunodeficiency-centromeric instability-facial anomalies syndrome 1	PMID:10588719|PMID:10647011|PMID:11038463|PMID:11102980|PMID:11741835|PMID:11919202|PMID:12239717|PMID:15580563|PMID:16199547|PMID:16501171|PMID:16543361|PMID:17576681|PMID:17893117|PMID:17908720|PMID:21549127|PMID:21559330|PMID:23486536|PMID:24033266|PMID:24577265|PMID:24742017|PMID:25640679|PMID:25741868|PMID:26851945|PMID:27734333|PMID:28128455|PMID:28454995|PMID:28492532|PMID:28713390|PMID:28916186|PMID:29255178|PMID:29659838|PMID:29921932|PMID:30010917|PMID:30630233|PMID:31681265|PMID:31686314|PMID:32135276|PMID:32360517|PMID:32462469|PMID:32888943|PMID:34825286|PMID:35084691|PMID:36790564|PMID:38178268|PMID:39290110|PMID:9536098
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:0090008	immunodeficiency-centromeric instability-facial anomalies syndrome 1		ISS	RGD:1551604	D	RGD:13592920	20230718	MouseDO		OMIM:242860	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:10534	stomach cancer		ISO	RGD:1606037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:1115	sarcoma		ISO	RGD:1606037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:1324	lung cancer		ISO	RGD:1606037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1606037	D	RGD:9588658|PMID:24548441	20141104	RGD		protein:increased expression:lung:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:14654	prostatitis		IEP		D	RGD:9588290|PMID:20056826	20141024	RGD		mRNA,protein:increased expression:prostate gland ventral lobe:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:1682	congenital heart disease		IEP		D	RGD:9588314|PMID:23333085	20141028	RGD		associated with Vitamin A Deficiency; mRNA:decreased expression:heart:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:2030	anxiety disorder		IEP		D	RGD:9588317|PMID:23529784	20141028	RGD		mRNA:decreased expression:hypothalamus:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:1551604	D	RGD:2289681|PMID:17178860	20141107	RGD		mRNA,protein:increased expression:prostate gland:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:288	endometriosis of uterus		ISO	RGD:1606037	D	RGD:9588664|PMID:22572543	20141104	RGD		protein:increased expression:ectopic endometrium:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:289	endometriosis		ISO	RGD:1606037	D	RGD:9588669|PMID:17081533	20141104	RGD		mRNA:increased expression:endometrium:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:305	carcinoma		ISO	RGD:1606037	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21458988
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:3070	high grade glioma		ISO	RGD:1606037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:3275	thymoma	susceptibility	ISO	RGD:1606037	D	RGD:9589098|PMID:24260492	20141107	RGD		associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:1606037	D	RGD:9589121|PMID:22919364	20141107	RGD			
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1606037	D	RGD:9589085|PMID:22213175	20141106	RGD		protein:increased expression:nucleus:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1606037	D	RGD:9589086|PMID:15528220	20141106	RGD		DNA:SNPs,haplotype:promoter:-283T >C,-579G>T(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:4362	cervical cancer		ISO	RGD:1606037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1606037	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:5409	lung small cell carcinoma	susceptibility	ISO	RGD:1606037	D	RGD:9589086|PMID:15528220	20141106	RGD		DNA:SNPs:promoter:-283T >C,-579G>T(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:1606037	D	RGD:9589091|PMID:19576953	20141106	RGD		DNA:SNP,haplotype: :(rs6119954),(rs2424908)(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:5520	head and neck squamous cell carcinoma	susceptibility	ISO	RGD:1606037	D	RGD:9589078|PMID:18455294	20141106	RGD		DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1606037	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17908720
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:630	genetic disease		ISO	RGD:1606037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24577265|PMID:25741868|PMID:27479843|PMID:28492532|PMID:31681265
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:6705	gastric body carcinoma		ISO	RGD:1606037	D	RGD:9589084|PMID:20127025	20141106	RGD			
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606037	D	RGD:9588598|PMID:15885882	20141031	RGD		mRNA:increased expression:liver:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:7148	rheumatoid arthritis	disease_progression	ISO	RGD:1606037	D	RGD:9589110|PMID:19777235	20141107	RGD		DNA:polymorphism:promoter:-283C>T(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:8552	chronic myeloid leukemia	disease_progression	ISO	RGD:1606037	D	RGD:9588667|PMID:11222358	20141104	RGD			
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:1606037	D	RGD:9589074|PMID:21081840	20141106	RGD			
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1606037	D	RGD:9588662|PMID:18683034	20141104	RGD		mRNA:decreased expression:mononuclear cell	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:8924	autoimmune thrombocytopenic purpura	susceptibility	ISO	RGD:1606037	D	RGD:9589094|PMID:23000068	20141107	RGD		DNA:SNP:promoter: -579G>T(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1606037	D	RGD:9589121|PMID:22919364	20141107	RGD		associated with Carcinoma, Pancreatic Ductal;	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606037	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21458988
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1606037	D	RGD:9589117|PMID:22330137	20141107	RGD		associated with Uterine Cervical Neoplasms;	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9001030	Multiple Primary Neoplasms	treatment	ISO	RGD:1606037	D	RGD:9589077|PMID:22009713	20141106	RGD		associated with Head and Neck Neoplasms;DNA:SNP: :149C>T(rs2424913)(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9001255	Kabuki Syndrome 1		ISO	RGD:1606037	D	RGD:8554872	20191224	ClinVar		ClinVar Annotator: match by term: Kabuki syndrome 1	PMID:25741868|PMID:28492532|PMID:29255178
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1606037	D	RGD:9589146|PMID:15467427	20141110	RGD		mRNA:decreased expression: B cell	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9002231	Fetal Growth Retardation		IEP		D	RGD:9590296|PMID:24717552	20141124	RGD		mRNA:increased expression:adrenal gland:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606037	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16012746
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:1606037	D	RGD:9589075|PMID:22236544	20141106	RGD		protein:increased expression:mouth mucosa:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9003036	Oral Lichen Planus	susceptibility	ISO	RGD:1606037	D	RGD:9589075|PMID:22236544	20141106	RGD		DNA:polymorphism: :C46359T(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1606037	D	RGD:9589117|PMID:22330137	20141107	RGD		mRNA:increased expression:uterine cervix:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9003373	Uterine Cervical Neoplasms	susceptibility	ISO	RGD:1606037	D	RGD:9589114|PMID:23677709	20141107	RGD		DNA:SNP: :46359C>T(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:1606037	D	RGD:9588596|PMID:15721400	20141031	RGD		mRNA,protein:increased expression:uterus:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	IEP		D	RGD:9588304|PMID:24447120	20141027	RGD			
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606037	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9007456	Female Infertility		ISO	RGD:1606037	D	RGD:11554173	20221004	CTD		CTD Direct Evidence: marker/mechanism	PMID:34773530
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9007661	Dwarfism		ISO	RGD:1606037	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10588719|PMID:17893117|PMID:17908720|PMID:25741868|PMID:28492532|PMID:28916186|PMID:36790564
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1606037	D	RGD:9588596|PMID:15721400	20141031	RGD		mRNA,protein:decreased expression:uterus:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9008443	Colorectal Neoplasms	susceptibility	ISO	RGD:1606037	D	RGD:9589079|PMID:18662374	20141106	RGD		DNA:SNP:promoter:-579G>T(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9008443	Colorectal Neoplasms	susceptibility	ISO	RGD:1606037	D	RGD:9589147|PMID:19843671	20141110	RGD		DNA:SNP: :rs406193(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9008644	Dysmenorrhea		ISO	RGD:1606037	D	RGD:9588664|PMID:22572543	20141104	RGD		protein:increased expression:ectopic endometrium:	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1606037	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17908720
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606037	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18221536|PMID:22520950
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868|PMID:28492532
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606037	D	RGD:9588667|PMID:11222358	20141104	RGD		mRNA:increased expression:CD34+ bone marrow cells	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1606037	D	RGD:9589071|PMID:23251566	20141106	RGD			
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:1606037	D	RGD:9589103|PMID:24069326	20141107	RGD		DNA:SNPs,haplotype: :rs1569686,rs2424908, rs6087990, rs6119954(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:1606037	D	RGD:9589108|PMID:16194411	20141107	RGD		DNA:SNP:promoter: C>T46359(human)	
1303274	Dnmt3b	DNA methyltransferase 3 beta	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1606037	D	RGD:9589109|PMID:21864931	20141107	RGD		mRNA:increased expression:CD4+ T cell:	
1303275	Eml5	EMAP like 5	gene	DOID:10534	stomach cancer		ISO	RGD:1350172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303275	Eml5	EMAP like 5	gene	DOID:1324	lung cancer		ISO	RGD:1350172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303275	Eml5	EMAP like 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303275	Eml5	EMAP like 5	gene	DOID:4362	cervical cancer		ISO	RGD:1350172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303275	Eml5	EMAP like 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303275	Eml5	EMAP like 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1350172	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303275	Eml5	EMAP like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303275	Eml5	EMAP like 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:10534	stomach cancer		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:1827	generalized epilepsy		ISO	RGD:1344113	D	RGD:8554872	20170307	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:1909	melanoma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:2843	long QT syndrome		ISO	RGD:1344113	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:3070	high grade glioma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:3275	thymoma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:4362	cervical cancer		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1344113	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303276	Usp19	ubiquitin specific peptidase 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303278	Tmprss11b	transmembrane serine protease 11B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303279	St3gal6	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	gene	DOID:1115	sarcoma		ISO	RGD:1349452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303279	St3gal6	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	gene	DOID:1324	lung cancer		ISO	RGD:1349452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303279	St3gal6	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	gene	DOID:1909	melanoma		ISO	RGD:1349452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303279	St3gal6	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303279	St3gal6	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303279	St3gal6	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303280	Btla	B and T lymphocyte associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303280	Btla	B and T lymphocyte associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303281	Scgn	secretagogin, EF-hand calcium binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1347901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303281	Scgn	secretagogin, EF-hand calcium binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303281	Scgn	secretagogin, EF-hand calcium binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303281	Scgn	secretagogin, EF-hand calcium binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303281	Scgn	secretagogin, EF-hand calcium binding protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303281	Scgn	secretagogin, EF-hand calcium binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1347901	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303281	Scgn	secretagogin, EF-hand calcium binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303281	Scgn	secretagogin, EF-hand calcium binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303282	Notch4	notch receptor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303282	Notch4	notch receptor 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1354309	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1303282	Notch4	notch receptor 4	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1354309	D	RGD:2299156|PMID:17440163	20080813	RGD			
1303282	Notch4	notch receptor 4	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1354309	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868|PMID:27231971
1303282	Notch4	notch receptor 4	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1553588	D	RGD:6480671|PMID:19546852	20120330	RGD			
1303282	Notch4	notch receptor 4	gene	DOID:0060688	arteriovenous malformations of the brain		ISS	RGD:1553588	D	RGD:13592920	20240425	MouseDO		OMIM:108010	
1303282	Notch4	notch receptor 4	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1354309	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
1303282	Notch4	notch receptor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1354309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303282	Notch4	notch receptor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303282	Notch4	notch receptor 4	gene	DOID:1115	sarcoma		ISO	RGD:1354309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303282	Notch4	notch receptor 4	gene	DOID:1307	dementia		ISO	RGD:1354309	D	RGD:6480775|PMID:21297263	20120403	RGD			
1303282	Notch4	notch receptor 4	gene	DOID:1380	endometrial cancer		ISO	RGD:1354309	D	RGD:2299153|PMID:11078798	20080813	RGD		mRNA:decreased expression:endometrium	
1303282	Notch4	notch receptor 4	gene	DOID:1682	congenital heart disease		ISO	RGD:1354309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
1303282	Notch4	notch receptor 4	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1354309	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27923803
1303282	Notch4	notch receptor 4	gene	DOID:2349	arteriosclerosis		ISO	RGD:1354309	D	RGD:6480862|PMID:18802018	20120405	RGD			
1303282	Notch4	notch receptor 4	gene	DOID:2377	multiple sclerosis		ISO	RGD:1354309	D	RGD:6480692|PMID:21654846	20120402	RGD		DNA: snps: cds: rs422951	
1303282	Notch4	notch receptor 4	gene	DOID:264	hemangiopericytoma		ISO	RGD:1354309	D	RGD:155663351|PMID:26951238	20221110	RGD		mRNA,protein:increased expression:anterior temporal lobe	
1303282	Notch4	notch receptor 4	gene	DOID:3275	thymoma		ISO	RGD:1354309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303282	Notch4	notch receptor 4	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1354309	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208345
1303282	Notch4	notch receptor 4	gene	DOID:418	systemic scleroderma		ISO	RGD:1354309	D	RGD:6480691|PMID:21779181	20120402	RGD		DNA: SNPs: non-coding :multiple	
1303282	Notch4	notch receptor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1354309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303282	Notch4	notch receptor 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303282	Notch4	notch receptor 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1354309	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303282	Notch4	notch receptor 4	gene	DOID:5241	hemangioblastoma		ISO	RGD:1354309	D	RGD:155641257|PMID:27388534	20221107	RGD		mRNA,protein:increased expression:temporal lobe :	
1303282	Notch4	notch receptor 4	gene	DOID:5419	schizophrenia		ISO	RGD:1354309	D	RGD:1358753|PMID:14732589	19990101	RGD		DNA:snps, haplotype:5' utr:g.-1725T>G, g.-25T>C (human)	
1303282	Notch4	notch receptor 4	gene	DOID:5419	schizophrenia		ISO	RGD:1354309	D	RGD:6480689|PMID:16894623	20120330	RGD		DNA: SNP: intron: rs520692	
1303282	Notch4	notch receptor 4	gene	DOID:5419	schizophrenia	no_association	ISO	RGD:1353409	D	RGD:6480690|PMID:15211628	20120402	RGD		DNA: SNPs: :five SNPs in a Japanese population	
1303282	Notch4	notch receptor 4	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:1354309	D	RGD:9068941	20200609	RGD		DNA:snps, haplotype:5' utr:g.-1725T>G, g.-25T>C (human)	PMID:14732589|REF_RGD_ID:1358753
1303282	Notch4	notch receptor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303282	Notch4	notch receptor 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303282	Notch4	notch receptor 4	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1354309	D	RGD:6480790|PMID:20132067	20120403	RGD		mRNA : increased expression: : cd4+ cells	
1303282	Notch4	notch receptor 4	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1553588	D	RGD:2299155|PMID:8030284	20080813	RGD		DNA, mRNA:mutation, alternative form	
1303282	Notch4	notch receptor 4	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1354309	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27923803
1303282	Notch4	notch receptor 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1354309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1303282	Notch4	notch receptor 4	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1354309	D	RGD:2299154|PMID:15531924	20080813	RGD			
1303282	Notch4	notch receptor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303282	Notch4	notch receptor 4	gene	DOID:9007436	Hypertrophic Cicatrix	treatment	IEP		D	RGD:597830078|PMID:34320121	20250304	RGD			
1303282	Notch4	notch receptor 4	gene	DOID:9008782	AIDS-Associated Nephropathy		IEP		D	RGD:6480788|PMID:20706108	20120403	RGD		protein: increased expression: kidney	
1303282	Notch4	notch receptor 4	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1354309	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21036696|PMID:21679465
1303282	Notch4	notch receptor 4	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1354309	D	RGD:6480791|PMID:19143814	20120403	RGD		DNA: SNP: 5' utr: rs2395106	
1303282	Notch4	notch receptor 4	gene	DOID:986	alopecia areata		ISO	RGD:1354309	D	RGD:6480681|PMID:12589427	20120330	RGD			
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:0070062	Arboleda-Tham syndrome		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	PMID:25741868
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:0070264	congenital disorder of glycosylation type IIl		ISO	RGD:1346233	D	RGD:7240710	20140911	OMIM			
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:0070264	congenital disorder of glycosylation type IIl		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COG6-CGD | ClinVar Annotator: match by term: COG6-related condition | ClinVar Annotator: match by term: COG6-related disorder | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl	PMID:24033266|PMID:25741868|PMID:26260076|PMID:26937396|PMID:28492532|PMID:29709711|PMID:30426380
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:10534	stomach cancer		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:1059	intellectual disability		ISO	RGD:1346233	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23606727|PMID:25558065|PMID:25741868
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:1115	sarcoma		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:1324	lung cancer		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:1826	epilepsy		ISO	RGD:1346233	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:26260076
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:3275	thymoma		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:4362	cervical cancer		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1346233	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:630	genetic disease		ISO	RGD:1346233	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26260076|PMID:28492532
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:8778	Crohn's disease		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Crohn disease	PMID:25741868|PMID:28492532
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:9001463	Shaheen Syndrome		ISO	RGD:1346233	D	RGD:7240710	20140911	OMIM			
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:9001463	Shaheen Syndrome		ISO	RGD:1346233	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Shaheen syndrome	PMID:24033266|PMID:25741868|PMID:26260076|PMID:28492532|PMID:30426380
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346233	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:26260076
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1303283	Cog6	component of oligomeric golgi complex 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:0040047	trimellitic anhydride allergic asthma		ISO	RGD:1553598	D	RGD:645122515|PMID:30716586	20260505	RGD		mRNA, protein:increased expression:lung	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:0040104	toluene 2,4-diisocyanate allergic asthma	treatment	ISO	RGD:1553598	D	RGD:645122496|PMID:27126687	20260406	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:0050156	idiopathic pulmonary fibrosis	treatment	ISO	RGD:1553598	D	RGD:645233562|PMID:38635081	20260427	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:0050830	peripheral artery disease		IEP		D	RGD:645122555|PMID:26441669	20260409	RGD		protein:increased expression:dorsal root ganglion	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:0070355	overactive bladder syndrome		IMP		D	RGD:10043365|PMID:21367919	20150526	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:0070355	overactive bladder syndrome		ISO	RGD:1344231	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:21367919|PMID:23523557
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1344231	D	RGD:640480070|PMID:27779810	20260330	RGD		DNA:SNPs: :multiple	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:0080819	environmentally induced asthma		ISO	RGD:1553598	D	RGD:645233558|PMID:28102732	20260505	RGD		associated with Experimental Allergic Asthma;protein:increased expression:lung	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:0080819	environmentally induced asthma	treatment	ISO	RGD:1553598	D	RGD:645122514|PMID:31281589	20260407	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:0111729	familial episodic pain syndrome 1		ISO	RGD:1344231	D	RGD:7240710	20140911	OMIM			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:0111729	familial episodic pain syndrome 1		ISO	RGD:1344231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: TRPA1-related condition	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:1115	sarcoma		ISO	RGD:1344231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:12323	cough variant asthma	treatment	ISO	RGD:1553598	D	RGD:645122513|PMID:32890712	20260407	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:12930	dilated cardiomyopathy	severity	IMP		D	RGD:645122568|PMID:37219522	20260409	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:13189	gout	treatment	IMP		D	RGD:645122561|PMID:24780252	20260409	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:2841	asthma		IEP		D	RGD:645122506|PMID:27236325	20260406	RGD		mRNA, protein:decreased expression; respiratory system smooth muscle	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:2841	asthma		ISO	RGD:1344231	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19458046
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:2841	asthma		ISO	RGD:1553598	D	RGD:645122502|PMID:33873095	20260406	RGD		mRNA, protein:increased expression:lung	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:2841	asthma	treatment	ISO	RGD:1553598	D	RGD:640480059|PMID:39395376	20260327	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:2841	asthma	treatment	ISO	RGD:1553598	D	RGD:640480060|PMID:32570040	20260327	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:2841	asthma	treatment	ISO	RGD:1553598	D	RGD:645122504|PMID:30440113	20260406	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:2841	asthma	treatment	ISO	RGD:1553598	D	RGD:645233557|PMID:35928613	20260427	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1344231	D	RGD:645122500|PMID:33567636	20260406	RGD		DNA:SNP:exon:rs7819749	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:4029	gastritis		IEP		D	RGD:645122567|PMID:32764237	20260409	RGD		mRNA, protein:increased expression:stomach	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:4072	duodenum disease	treatment	IMP		D	RGD:645122558|PMID:30381276	20260409	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:4481	allergic rhinitis	treatment	ISO	RGD:1553598	D	RGD:640480061|PMID:33774861	20260327	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1344231	D	RGD:640480068|PMID:23219522	20260330	RGD		mRNA:increased expression:lung	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:552	pneumonia	treatment	ISO	RGD:1553598	D	RGD:645122505|PMID:37446875	20260406	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:670	amphetamine abuse	treatment	IMP		D	RGD:645122565|PMID:38644533	20260409	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:10043365|PMID:21367919	20150526	RGD		mRNA,protein:increased expression:urinary bladder, dorsal root ganglion:	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9000123	Deglutition Disorders	treatment	ISO	RGD:1344231	D	RGD:645122498|PMID:32064725	20260406	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9000133	Sneezing		ISO	RGD:1344231	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27545873
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9000194	Cold Hypersensitivity		IMP		D	RGD:10043615|PMID:21068322	20150527	RGD		associated with Peripheral Nerve Injuries;	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9000641	Pain		ISO	RGD:1344231	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20601631
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1344231	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19458046
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9000945	Ventilator-Induced Lung Injury	treatment	IMP		D	RGD:640480072|PMID:23846257	20260330	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9001048	Nociceptive Pain		IMP		D	RGD:10043788|PMID:23099257	20150528	RGD		associated with Experimental Colitis	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9001240	Peripheral Nerve Injuries		IEP		D	RGD:10043379|PMID:18514429	20150526	RGD		protein:increased expression:dorsal root ganglion:	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9001579	Neurogenic Inflammation	treatment	IMP		D	RGD:645244062|PMID:20720158	20260505	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002211	Hyperalgesia		IMP		D	RGD:10043618|PMID:18954467	20150527	RGD		associated with Peripheral Nerve Injuries;	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1344231	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18234885|PMID:21481532|PMID:23523557
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002211	Hyperalgesia	treatment	IMP		D	RGD:11530853|PMID:26393428	20260409	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:1553598	D	RGD:645122501|PMID:27812120	20260406	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002283	Experimental Allergic Asthma		ISO	RGD:1553598	D	RGD:645122515|PMID:30716586	20260407	RGD		mRNA, protein:increased expression:lung	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002283	Experimental Allergic Asthma		ISO	RGD:1553598	D	RGD:645233558|PMID:28102732	20260427	RGD		protein:increased expression:lung	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002283	Experimental Allergic Asthma		ISO	RGD:1553598	D	RGD:645233563|PMID:38759746	20260427	RGD		protein:increased expression:lung	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002283	Experimental Allergic Asthma		ISO	RGD:1553598	D	RGD:645238747|PMID:37634475	20260501	RGD		protein:increased expression:lung	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002283	Experimental Allergic Asthma	severity	IMP		D	RGD:127285811|PMID:31969645	20210708	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002283	Experimental Allergic Asthma	treatment	IMP		D	RGD:645233560|PMID:33620419	20260427	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002283	Experimental Allergic Asthma	treatment	IMP		D	RGD:645244050|PMID:21841185	20260504	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002283	Experimental Allergic Asthma	treatment	ISO	RGD:1553598	D	RGD:640480069|PMID:19458046	20260406	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002283	Experimental Allergic Asthma	treatment	ISO	RGD:1553598	D	RGD:645122516|PMID:30836174	20260407	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002283	Experimental Allergic Asthma	treatment	ISO	RGD:1553598	D	RGD:645122517|PMID:30517707	20260407	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002283	Experimental Allergic Asthma	treatment	ISO	RGD:1553598	D	RGD:645233567|PMID:35337920	20260427	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002467	Mycoplasma Infections	treatment	ISO	RGD:1553598	D	RGD:645233556|PMID:35911969	20260427	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002669	Hypoxia	treatment	ISO	RGD:1553598	D	RGD:645122503|PMID:24245768	20260406	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9002775	Cognitive Dysfunction	treatment	HEP		D	RGD:645122575|PMID:33136229	20260410	RGD		associated with middle cerebral artery infarction	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1553598	D	RGD:640480063|PMID:32388008	20260427	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9004992	Apnea	treatment	IMP		D	RGD:645122518|PMID:23384628	20260407	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9005372	Inflammation		ISO	RGD:1344231	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20601631
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9005372	Inflammation	treatment	ISO	RGD:1553598	D	RGD:640480062|PMID:22905134	20260327	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9005734	Abdominal Pain		IDA		D	RGD:10043376|PMID:24291101	20150526	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9006827	Lung Reperfusion Injury	treatment	IEP		D	RGD:645122519|PMID:31659953	20260427	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9006827	Lung Reperfusion Injury	treatment	IEP		D	RGD:645233580|PMID:31267824	20260428	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9006956	nephrotoxicity		ISO	RGD:1344231	D	RGD:645233564|PMID:40780049	20260427	RGD		DNA:SNP: :rs920829	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9007073	Cough		ISO	RGD:1344231	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27545873
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9007073	Cough	treatment	ISO	RGD:1553598	D	RGD:645233561|PMID:38224794	20260427	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9007073	Cough	treatment	ISO	RGD:1553598	D	RGD:645233565|PMID:40206065	20260427	RGD		associated with Mycoplasma pneumoniae pneumonia	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9007073	Cough	treatment	ISO	RGD:1553598	D	RGD:645233579|PMID:39306207	20260505	RGD		associated with respiratory syncytial virus infectious disease	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9007073	Cough	treatment	ISO	RGD:1553598	D	RGD:730441501|PMID:34099759	20260518	RGD		associated with eosinophilic bronchitis	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9261	nasopharynx carcinoma	disease_progression	ISO	RGD:1344231	D	RGD:645244061|PMID:27390592	20260505	RGD		mRNA, protein:increased expression:nasopharynx	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9352	type 2 diabetes mellitus	treatment	IDA		D	RGD:645122566|PMID:31668381	20260409	RGD			
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9415	allergic asthma		ISO	RGD:1553598	D	RGD:640480071|PMID:37500026	20260330	RGD		protein:increased expression:lung	
1303284	Trpa1	transient receptor potential cation channel, subfamily A, member 1	gene	DOID:9743	diabetic neuropathy		IMP		D	RGD:10043378|PMID:22133672	20150526	RGD			
1303285	Sirt5	sirtuin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303285	Sirt5	sirtuin 5	gene	DOID:10534	stomach cancer		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303285	Sirt5	sirtuin 5	gene	DOID:11830	myopia		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1303285	Sirt5	sirtuin 5	gene	DOID:1324	lung cancer		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303285	Sirt5	sirtuin 5	gene	DOID:1596	depressive disorder		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1303285	Sirt5	sirtuin 5	gene	DOID:1826	epilepsy		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1303285	Sirt5	sirtuin 5	gene	DOID:1909	melanoma		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303285	Sirt5	sirtuin 5	gene	DOID:2030	anxiety disorder		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1303285	Sirt5	sirtuin 5	gene	DOID:4362	cervical cancer		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303285	Sirt5	sirtuin 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303285	Sirt5	sirtuin 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303285	Sirt5	sirtuin 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1351920	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303285	Sirt5	sirtuin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303285	Sirt5	sirtuin 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1303285	Sirt5	sirtuin 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303285	Sirt5	sirtuin 5	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1303285	Sirt5	sirtuin 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1303285	Sirt5	sirtuin 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1303285	Sirt5	sirtuin 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1303285	Sirt5	sirtuin 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303285	Sirt5	sirtuin 5	gene	DOID:9008023	Memory Disorders		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
1303285	Sirt5	sirtuin 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303285	Sirt5	sirtuin 5	gene	DOID:9834	hyperopia		ISO	RGD:1351920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1303286	Esam	endothelial cell adhesion molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303286	Esam	endothelial cell adhesion molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303286	Esam	endothelial cell adhesion molecule	gene	DOID:1115	sarcoma		ISO	RGD:1348841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303286	Esam	endothelial cell adhesion molecule	gene	DOID:1324	lung cancer		ISO	RGD:1348841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303286	Esam	endothelial cell adhesion molecule	gene	DOID:5419	schizophrenia		ISO	RGD:1348841	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1303286	Esam	endothelial cell adhesion molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303286	Esam	endothelial cell adhesion molecule	gene	DOID:9003965	NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY		ISO	RGD:1348841	D	RGD:7240710	20230719	OMIM			
1303286	Esam	endothelial cell adhesion molecule	gene	DOID:9003965	NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY		ISO	RGD:1348841	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY | ClinVar Annotator: match by term: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity	PMID:25741868
1303286	Esam	endothelial cell adhesion molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303287	Agpat1	1-acylglycerol-3-phosphate O-acyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1348475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303287	Agpat1	1-acylglycerol-3-phosphate O-acyltransferase 1	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1348475	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553957
1303287	Agpat1	1-acylglycerol-3-phosphate O-acyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303287	Agpat1	1-acylglycerol-3-phosphate O-acyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303287	Agpat1	1-acylglycerol-3-phosphate O-acyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303287	Agpat1	1-acylglycerol-3-phosphate O-acyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303288	Spink14	serine peptidase inhibitor, Kazal type 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303289	Nenf	neudesin neurotrophic factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303289	Nenf	neudesin neurotrophic factor	gene	DOID:10534	stomach cancer		ISO	RGD:1603399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303289	Nenf	neudesin neurotrophic factor	gene	DOID:2394	ovarian cancer		ISO	RGD:1603399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1303289	Nenf	neudesin neurotrophic factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303289	Nenf	neudesin neurotrophic factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303290	Klhl10	kelch-like family member 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303290	Klhl10	kelch-like family member 10	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1344199	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868|PMID:28492532
1303290	Klhl10	kelch-like family member 10	gene	DOID:0070180	spermatogenic failure 11		ISO	RGD:1344199	D	RGD:7240710	20140903	OMIM			
1303290	Klhl10	kelch-like family member 10	gene	DOID:0070180	spermatogenic failure 11		ISO	RGD:1344199	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 11 | ClinVar Annotator: match by term: Spermatogenic failure 11	PMID:25741868
1303290	Klhl10	kelch-like family member 10	gene	DOID:1909	melanoma		ISO	RGD:1344199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303290	Klhl10	kelch-like family member 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303292	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303292	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1353803	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF	PMID:28492532
1303292	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1353803	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532
1303292	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:0112094	nuclear type mitochondrial complex I deficiency 14		ISO	RGD:1353803	D	RGD:7240710	20190315	OMIM			
1303292	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:0112094	nuclear type mitochondrial complex I deficiency 14		ISO	RGD:1353803	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 14 | ClinVar Annotator: match by term: NDUFA11-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32712949|PMID:9536098
1303292	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:10534	stomach cancer		ISO	RGD:1353803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303292	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:2033	communication disorder		ISO	RGD:1353803	D	RGD:401854249|PMID:35642741	20231106	RGD		DNA:SNP:CDS:multiple (human)	
1303292	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303292	Ndufa11	NADH:ubiquinone oxidoreductase subunit A11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	PMID:25741868|PMID:28492532
1303293	Tbc1d20	TBC1 domain family, member 20	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303293	Tbc1d20	TBC1 domain family, member 20	gene	DOID:0060237	Warburg micro syndrome		ISO	RGD:1346411	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1303293	Tbc1d20	TBC1 domain family, member 20	gene	DOID:0110719	Warburg micro syndrome 4		ISO	RGD:1346411	D	RGD:7240710	20140911	OMIM			
1303293	Tbc1d20	TBC1 domain family, member 20	gene	DOID:0110719	Warburg micro syndrome 4		ISO	RGD:1346411	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TBC1D20-related condition | ClinVar Annotator: match by term: WARBURG MICRO SYNDROME 4 | ClinVar Annotator: match by term: Warburg micro syndrome 4	PMID:25741868|PMID:28492532
1303293	Tbc1d20	TBC1 domain family, member 20	gene	DOID:0110719	Warburg micro syndrome 4		ISS	RGD:1551722	D	RGD:13592920	20230718	MouseDO		OMIM:615663	
1303293	Tbc1d20	TBC1 domain family, member 20	gene	DOID:1909	melanoma		ISO	RGD:1346411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303293	Tbc1d20	TBC1 domain family, member 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303293	Tbc1d20	TBC1 domain family, member 20	gene	DOID:630	genetic disease		ISO	RGD:1346411	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1303295	S100a11	S100 calcium binding protein A11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303295	S100a11	S100 calcium binding protein A11	gene	DOID:0080600	COVID-19		ISO	RGD:1323591	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD4+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
1303295	S100a11	S100 calcium binding protein A11	gene	DOID:5041	esophageal cancer		ISO	RGD:1323591	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303295	S100a11	S100 calcium binding protein A11	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323591	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303295	S100a11	S100 calcium binding protein A11	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1323591	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:20388789
1303295	S100a11	S100 calcium binding protein A11	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1323591	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1303295	S100a11	S100 calcium binding protein A11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303296	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:38549391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303296	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:10534	stomach cancer		ISO	RGD:38549391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303296	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:1115	sarcoma		ISO	RGD:38549391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303296	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:403	mouth disease		ISO	RGD:38549391	D	RGD:11554173	20220614	CTD		CTD Direct Evidence: marker/mechanism	PMID:17682004
1303296	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:38549391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303296	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:38549391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303296	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:38549391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303296	Hspa14	heat shock protein family A (Hsp70) member 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:38549391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303297	Krt2	keratin 2	gene	DOID:0060877	bullous congenital ichthyosiform erythroderma		ISO	RGD:1342754	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303297	Krt2	keratin 2	gene	DOID:0060877	bullous congenital ichthyosiform erythroderma		ISO	RGD:1342754	D	RGD:7240710	20130221	OMIM			
1303297	Krt2	keratin 2	gene	DOID:0060877	bullous congenital ichthyosiform erythroderma		ISO	RGD:1342754	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS BULLOSA OF SIEMENS | ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens | ClinVar Annotator: match by term: KRT2-related condition | ClinVar Annotator: match by term: Superficial epidermolytic ichthyosis	PMID:25741868|PMID:26581228|PMID:28492532|PMID:29444371|PMID:31953843|PMID:35887135|PMID:39434542
1303297	Krt2	keratin 2	gene	DOID:0060877	bullous congenital ichthyosiform erythroderma		ISS	RGD:1553683	D	RGD:13592920	20230718	MouseDO		OMIM:146800	
1303297	Krt2	keratin 2	gene	DOID:0070523	peeling skin syndrome 4		ISO	RGD:1342754	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exfoliative ichthyosis	PMID:25741868|PMID:26581228|PMID:28492532|PMID:29444371|PMID:31953843|PMID:35887135|PMID:39434542
1303297	Krt2	keratin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1342754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303297	Krt2	keratin 2	gene	DOID:1115	sarcoma		ISO	RGD:1342754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303297	Krt2	keratin 2	gene	DOID:1697	ichthyosis	susceptibility	ISO	RGD:1342754	D	RGD:1600192|PMID:7524919	20070302	RGD		DNA:mutations	
1303297	Krt2	keratin 2	gene	DOID:2773	contact dermatitis		ISO	RGD:1342754	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1303297	Krt2	keratin 2	gene	DOID:3275	thymoma		ISO	RGD:1342754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303297	Krt2	keratin 2	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:1342754	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratodermas	
1303297	Krt2	keratin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342754	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303297	Krt2	keratin 2	gene	DOID:630	genetic disease		ISO	RGD:1342754	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1303297	Krt2	keratin 2	gene	DOID:9004728	Ichthyosis Exfoliativa		ISO	RGD:1342754	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exfoliative ichthyosis	PMID:25741868|PMID:26581228|PMID:28492532|PMID:29444371|PMID:31953843|PMID:35887135|PMID:39434542
1303298	Arl10	ARF like GTPase 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303298	Arl10	ARF like GTPase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:0060058	lymphoma		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:0070712	developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies		ISO	RGD:1348496	D	RGD:7240710	20260603	OMIM			
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:0070712	developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies		ISO	RGD:1348496	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH VARIABLE CARDIAC AND RENAL CONGENITAL ANOMALIES AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:10534	stomach cancer		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:1324	lung cancer		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:13580	cholestasis		ISO	RGD:1348496	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:14766	renal agenesis		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: renal agenesis	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:1909	melanoma		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:3275	thymoma		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:4362	cervical cancer		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348496	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303301	Pan2	poly(A) specific ribonuclease subunit PAN2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1348496	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1303302	Nrg2	neuregulin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303302	Nrg2	neuregulin 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606028	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1303302	Nrg2	neuregulin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303302	Nrg2	neuregulin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303302	Nrg2	neuregulin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303302	Nrg2	neuregulin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303302	Nrg2	neuregulin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303303	Elp5	elongator acetyltransferase complex subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303303	Elp5	elongator acetyltransferase complex subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303303	Elp5	elongator acetyltransferase complex subunit 5	gene	DOID:1324	lung cancer		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303303	Elp5	elongator acetyltransferase complex subunit 5	gene	DOID:3070	high grade glioma		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303303	Elp5	elongator acetyltransferase complex subunit 5	gene	DOID:4362	cervical cancer		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303303	Elp5	elongator acetyltransferase complex subunit 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1606812	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303303	Elp5	elongator acetyltransferase complex subunit 5	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1303303	Elp5	elongator acetyltransferase complex subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303303	Elp5	elongator acetyltransferase complex subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303303	Elp5	elongator acetyltransferase complex subunit 5	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1303304	Gpank1	G patch domain and ankyrin repeats 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321766	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303304	Gpank1	G patch domain and ankyrin repeats 1	gene	DOID:1324	lung cancer		ISO	RGD:1321766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303304	Gpank1	G patch domain and ankyrin repeats 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303306	Cuta	cutA divalent cation tolerance homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303306	Cuta	cutA divalent cation tolerance homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303306	Cuta	cutA divalent cation tolerance homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303306	Cuta	cutA divalent cation tolerance homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303306	Cuta	cutA divalent cation tolerance homolog	gene	DOID:1324	lung cancer		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303306	Cuta	cutA divalent cation tolerance homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303306	Cuta	cutA divalent cation tolerance homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303306	Cuta	cutA divalent cation tolerance homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303307	Kif13b	kinesin family member 13B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303307	Kif13b	kinesin family member 13B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303307	Kif13b	kinesin family member 13B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1303307	Kif13b	kinesin family member 13B	gene	DOID:10534	stomach cancer		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303307	Kif13b	kinesin family member 13B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303307	Kif13b	kinesin family member 13B	gene	DOID:1324	lung cancer		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303307	Kif13b	kinesin family member 13B	gene	DOID:1909	melanoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303307	Kif13b	kinesin family member 13B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303307	Kif13b	kinesin family member 13B	gene	DOID:3070	high grade glioma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303307	Kif13b	kinesin family member 13B	gene	DOID:3275	thymoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303307	Kif13b	kinesin family member 13B	gene	DOID:4362	cervical cancer		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303307	Kif13b	kinesin family member 13B	gene	DOID:5041	esophageal cancer		ISO	RGD:1349792	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303307	Kif13b	kinesin family member 13B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303307	Kif13b	kinesin family member 13B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303307	Kif13b	kinesin family member 13B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303307	Kif13b	kinesin family member 13B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303307	Kif13b	kinesin family member 13B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303307	Kif13b	kinesin family member 13B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303308	Tspan1	tetraspanin 1	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1354320	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related	PMID:15466003|PMID:17576681|PMID:17878207|PMID:17906881|PMID:18195152|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:30961548|PMID:34324503|PMID:9536098
1303308	Tspan1	tetraspanin 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1354320	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098
1303308	Tspan1	tetraspanin 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1354320	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31230720|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:34426522|PMID:9536098
1303308	Tspan1	tetraspanin 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1354320	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31230720|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:34426522|PMID:35846108|PMID:9536098
1303308	Tspan1	tetraspanin 1	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:8557835	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:15236414|PMID:16427280|PMID:17906881|PMID:21361872|PMID:25390965|PMID:25741868|PMID:26467025|PMID:28492532
1303308	Tspan1	tetraspanin 1	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:8617310	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:11709191|PMID:12588800|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17559086|PMID:17878207|PMID:17881266|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:23326386|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26908613|PMID:26990548|PMID:27391550|PMID:27604308|PMID:28492532|PMID:30961548|PMID:31589614|PMID:31980526|PMID:33144682
1303308	Tspan1	tetraspanin 1	gene	DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O		ISO	RGD:10403909|RGD:10404161|RGD:10406706|RGD:11579560|RGD:11636589|RGD:11638110|RGD:11639130|RGD:11639681|RGD:11640284|RGD:11640845|RGD:11644079|RGD:126726806|RGD:126758283|RGD:126768167|RGD:12893722|RGD:13217039|RGD:13480686|RGD:13518342|RGD:13522390|RGD:13523106|RGD:13621292|RGD:13803378|RGD:13835794|RGD:13836220|RGD:14705744|RGD:14706773|RGD:14710628|RGD:14710727|RGD:150410332|RGD:150413742|RGD:150413747|RGD:151234623|RGD:15125546|RGD:15136300|RGD:15160455|RGD:151663456|RGD:151714168|RGD:151714999|RGD:151716490|RGD:151799626|RGD:151803868|RGD:151813936|RGD:156264636|RGD:156405339|RGD:26886621|RGD:28878705|RGD:38499795|RGD:40904548|RGD:9691368|RGD:9693238	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	PMID:25741868|PMID:28492532
1303308	Tspan1	tetraspanin 1	gene	DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O		ISO	RGD:127253427|RGD:13789892|RGD:13791602|RGD:13792167|RGD:151713712|RGD:151714816|RGD:151715021|RGD:151724754|RGD:156012922|RGD:156392641|RGD:38499090|RGD:405081868|RGD:405090241	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O	PMID:16199547|PMID:19299310|PMID:20816175|PMID:21447391|PMID:26908613|PMID:27391550|PMID:28492532
1303308	Tspan1	tetraspanin 1	gene	DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3		ISO	RGD:1354320	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:34324503|PMID:9536098
1303308	Tspan1	tetraspanin 1	gene	DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3		ISO	RGD:1354320	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:34324503|PMID:36819107|PMID:9536098
1303308	Tspan1	tetraspanin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303308	Tspan1	tetraspanin 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1354320	D	RGD:1331679|PMID:12115476	20150205	RGD			
1303308	Tspan1	tetraspanin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303308	Tspan1	tetraspanin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303309	Gtf2h4	general transcription factor 2H subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303309	Gtf2h4	general transcription factor 2H subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303309	Gtf2h4	general transcription factor 2H subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303309	Gtf2h4	general transcription factor 2H subunit 4	gene	DOID:1909	melanoma		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303309	Gtf2h4	general transcription factor 2H subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1352501	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303309	Gtf2h4	general transcription factor 2H subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303309	Gtf2h4	general transcription factor 2H subunit 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303309	Gtf2h4	general transcription factor 2H subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303309	Gtf2h4	general transcription factor 2H subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303310	Nfkbil1	NFKB inhibitor like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303310	Nfkbil1	NFKB inhibitor like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303310	Nfkbil1	NFKB inhibitor like 1	gene	DOID:1115	sarcoma		ISO	RGD:1351897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303310	Nfkbil1	NFKB inhibitor like 1	gene	DOID:1909	melanoma		ISO	RGD:1351897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303310	Nfkbil1	NFKB inhibitor like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303310	Nfkbil1	NFKB inhibitor like 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1351897	D	RGD:11554173	20190402	CTD		CTD Direct Evidence: marker/mechanism	
1303310	Nfkbil1	NFKB inhibitor like 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1351897	D	RGD:1331681|PMID:12509789	19990101	RGD		DNA:snp:promoter:c.-132T>A (rs2071592) (human)	
1303310	Nfkbil1	NFKB inhibitor like 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1351897	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:25741868
1303310	Nfkbil1	NFKB inhibitor like 1	gene	DOID:7148	rheumatoid arthritis	susceptibility	ISO	RGD:1351897	D	RGD:7240710	20190329	OMIM			
1303310	Nfkbil1	NFKB inhibitor like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303311	Lrrc46	leucine rich repeat containing 46	gene	DOID:10534	stomach cancer		ISO	RGD:1602198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303311	Lrrc46	leucine rich repeat containing 46	gene	DOID:1324	lung cancer		ISO	RGD:1602198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303311	Lrrc46	leucine rich repeat containing 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303311	Lrrc46	leucine rich repeat containing 46	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303311	Lrrc46	leucine rich repeat containing 46	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1602198	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043753
1303311	Lrrc46	leucine rich repeat containing 46	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303311	Lrrc46	leucine rich repeat containing 46	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303312	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303312	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303312	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:0060358	multiple acyl-CoA dehydrogenase deficiency		ISO	RGD:1347524	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303312	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:0060358	multiple acyl-CoA dehydrogenase deficiency		ISO	RGD:1347524	D	RGD:7240710	20130221	OMIM			
1303312	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:0060358	multiple acyl-CoA dehydrogenase deficiency		ISO	RGD:1347524	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLUTARIC ACIDEMIA IIB | ClinVar Annotator: match by term: Glutaric acidemia IIC | ClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Glutaric acidemia type 2 | ClinVar Annotator: match by term: Glutaric aciduria, type 2 | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	PMID:12706375|PMID:12815589|PMID:16199547|PMID:16510302|PMID:17576681|PMID:17638024|PMID:18289905|PMID:19088074|PMID:19763152|PMID:20307669|PMID:20674745|PMID:22406018|PMID:22588007|PMID:23785301|PMID:24033266|PMID:24215330|PMID:25741868|PMID:28454995|PMID:28492532|PMID:30626930|PMID:31418342|PMID:31589614|PMID:32778825|PMID:35095998|PMID:36964972|PMID:37344829|PMID:7912128|PMID:9536098
1303312	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
1303312	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303312	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303312	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1303312	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1303312	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1347524	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24215330|PMID:25741868|PMID:28492532
1303312	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:784	chronic kidney disease		ISO	RGD:1347524	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:24215330|PMID:25741868|PMID:28492532
1303312	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
1303312	Etfb	electron transfer flavoprotein subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303313	Ufc1	ubiquitin-fold modifier conjugating enzyme 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303313	Ufc1	ubiquitin-fold modifier conjugating enzyme 1	gene	DOID:0070421	neurodevelopmental disorder with spasticity and poor growth		ISO	RGD:1604819	D	RGD:7240710	20190315	OMIM			
1303313	Ufc1	ubiquitin-fold modifier conjugating enzyme 1	gene	DOID:0070421	neurodevelopmental disorder with spasticity and poor growth		ISO	RGD:1604819	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH | ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity and poor growth | ClinVar Annotator: match by term: UFC1-related condition	PMID:25741868
1303313	Ufc1	ubiquitin-fold modifier conjugating enzyme 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303313	Ufc1	ubiquitin-fold modifier conjugating enzyme 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303313	Ufc1	ubiquitin-fold modifier conjugating enzyme 1	gene	DOID:1115	sarcoma		ISO	RGD:1604819	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303313	Ufc1	ubiquitin-fold modifier conjugating enzyme 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1303313	Ufc1	ubiquitin-fold modifier conjugating enzyme 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303313	Ufc1	ubiquitin-fold modifier conjugating enzyme 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303313	Ufc1	ubiquitin-fold modifier conjugating enzyme 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303313	Ufc1	ubiquitin-fold modifier conjugating enzyme 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303313	Ufc1	ubiquitin-fold modifier conjugating enzyme 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1342599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1342599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1342599	D	RGD:11572212|PMID:26943237	20181226	RGD		DNA:hypermethylation:promoter:	
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1342599	D	RGD:13831335|PMID:11130185	20181226	RGD		protein:decreased expression:temporal cortex	
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1342599	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:1909	melanoma		ISO	RGD:1342599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:3275	thymoma		ISO	RGD:1342599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:9000233	PARKINSONISM WITH POLYNEUROPATHY		ISO	RGD:1342599	D	RGD:7240710	20210519	OMIM			
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:9000233	PARKINSONISM WITH POLYNEUROPATHY		ISO	RGD:1342599	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PARKINSONISM WITH POLYNEUROPATHY | ClinVar Annotator: match by term: Parkinsonism with polyneuropathy	PMID:25741868
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303314	Uqcrc1	ubiquinol-cytochrome c reductase core protein 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1342599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	
1303315	Cdc50a	cell division cycle 50 P4-ATPase accessory subunit A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303315	Cdc50a	cell division cycle 50 P4-ATPase accessory subunit A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303315	Cdc50a	cell division cycle 50 P4-ATPase accessory subunit A	gene	DOID:0060058	lymphoma		ISO	RGD:1345323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1303315	Cdc50a	cell division cycle 50 P4-ATPase accessory subunit A	gene	DOID:1909	melanoma		ISO	RGD:1345323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303315	Cdc50a	cell division cycle 50 P4-ATPase accessory subunit A	gene	DOID:4362	cervical cancer		ISO	RGD:1345323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303315	Cdc50a	cell division cycle 50 P4-ATPase accessory subunit A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303315	Cdc50a	cell division cycle 50 P4-ATPase accessory subunit A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303315	Cdc50a	cell division cycle 50 P4-ATPase accessory subunit A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303315	Cdc50a	cell division cycle 50 P4-ATPase accessory subunit A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303316	Krt81	keratin 81	gene	DOID:0061152	monilethrix 2		ISO	RGD:1352979	D	RGD:7240710	20250423	OMIM			
1303316	Krt81	keratin 81	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1352979	D	RGD:155882455|PMID:32678982	20230119	RGD		DNA:SNP:3'UTR:rs3660(human)	
1303316	Krt81	keratin 81	gene	DOID:421	hair disease	susceptibility	ISO	RGD:1352979	D	RGD:1600197|PMID:9402962	20070302	RGD		protein:mutation: ; E403K; monilethrix, OMIM:158000	
1303317	Atf6b	activating transcription factor 6 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303317	Atf6b	activating transcription factor 6 beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303317	Atf6b	activating transcription factor 6 beta	gene	DOID:1115	sarcoma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303317	Atf6b	activating transcription factor 6 beta	gene	DOID:3070	high grade glioma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303317	Atf6b	activating transcription factor 6 beta	gene	DOID:3275	thymoma		ISO	RGD:1346168	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303317	Atf6b	activating transcription factor 6 beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303317	Atf6b	activating transcription factor 6 beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303317	Atf6b	activating transcription factor 6 beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1346168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303317	Atf6b	activating transcription factor 6 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303317	Atf6b	activating transcription factor 6 beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303317	Atf6b	activating transcription factor 6 beta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303317	Atf6b	activating transcription factor 6 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:0081183	autosomal recessive intellectual developmental disorder 7		ISO	RGD:1606831	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:0081183	autosomal recessive intellectual developmental disorder 7		ISO	RGD:1606831	D	RGD:7240710	20130221	OMIM			
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:0081183	autosomal recessive intellectual developmental disorder 7		ISO	RGD:1606831	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 7 | ClinVar Annotator: match by term: TUSC3-related condition	PMID:18414213|PMID:25741868|PMID:28492532|PMID:28820871
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:1059	intellectual disability		ISO	RGD:1606831	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:28492532|PMID:30167849
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:1059	intellectual disability		ISO	RGD:1606831	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:1059	intellectual disability		ISO	RGD:1606831	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:10907	microcephaly		ISO	RGD:1606831	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:18452889|PMID:18455129|PMID:21681106|PMID:25741868|PMID:27148795
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:1142	alternating exotropia		ISO	RGD:1606831	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Alternating exotropia	PMID:25741868
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:11782	astigmatism		ISO	RGD:1606831	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:12849	autistic disorder		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:1324	lung cancer		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:1826	epilepsy		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:1909	melanoma		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation	PMID:25741868|PMID:28492532
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:535	sleep disorder		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:28492532
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:630	genetic disease		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18455129|PMID:25626710|PMID:25741868|PMID:28492532
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606831	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:9001581	Constipation		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:28492532
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606831	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:28492532
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:18455129|PMID:25626710|PMID:25741868|PMID:28492532
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1303318	Tusc3	tumor suppressor candidate 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303319	Tmem248	transmembrane protein 248	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303319	Tmem248	transmembrane protein 248	gene	DOID:1909	melanoma		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303319	Tmem248	transmembrane protein 248	gene	DOID:2394	ovarian cancer		ISO	RGD:1602880	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1303319	Tmem248	transmembrane protein 248	gene	DOID:4362	cervical cancer		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303319	Tmem248	transmembrane protein 248	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303319	Tmem248	transmembrane protein 248	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303319	Tmem248	transmembrane protein 248	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351629	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1551869	D	RGD:1331842|PMID:12351651	20160503	RGD			
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:1115	sarcoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:12987	agranulocytosis		ISO	RGD:1351629	D	RGD:11073696|PMID:14617031	20160503	RGD		associated with schizophrenia;DNA:SNPs:exons, intron:multiple	
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:12987	agranulocytosis		ISO	RGD:1351629	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14617031
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:1324	lung cancer		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1351629	D	RGD:11073691|PMID:18314446	20160503	RGD		DNA:deletion:promoter: (human)	
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1351629	D	RGD:7240710	20230505	OMIM			
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1351629	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:2773	contact dermatitis		ISO	RGD:1351629	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1351629	D	RGD:11073689|PMID:21351093	20160503	RGD		DNA:SNP: :rs1143684 (human)	
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:4961	bone marrow disease		ISO	RGD:1351629	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12351651
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351629	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9002514	Neointima		IMP		D	RGD:11073699|PMID:22508052	20160503	RGD			
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9004237	Hyperoxic Lung Injury		ISO	RGD:1551869	D	RGD:10769360|PMID:16678022	20160210	RGD			
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1351629	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20861374
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1351629	D	RGD:11554173	20180717	CTD		CTD Direct Evidence: marker/mechanism	
1303320	Nqo2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303321	Ier3	immediate early response 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303321	Ier3	immediate early response 3	gene	DOID:0080600	COVID-19		ISO	RGD:1347080	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
1303321	Ier3	immediate early response 3	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1347080	D	RGD:1331843|PMID:14534530	19990101	RGD		human gene in a mouse model	
1303321	Ier3	immediate early response 3	gene	DOID:10763	hypertension		ISO	RGD:1347080	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20713914
1303321	Ier3	immediate early response 3	gene	DOID:2772	irritant dermatitis		ISO	RGD:1347080	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27258892
1303321	Ier3	immediate early response 3	gene	DOID:37	skin disease		ISO	RGD:1347080	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1303321	Ier3	immediate early response 3	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1347080	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:10534	stomach cancer		ISO	RGD:1350768	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:1115	sarcoma		ISO	RGD:1350768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:1324	lung cancer		ISO	RGD:1350768	D	RGD:7240710	20240124	OMIM			
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:1324	lung cancer		ISO	RGD:1350768	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LUNG CANCER, SOMATIC	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:1612	breast cancer		ISO	RGD:1350768	D	RGD:7240710	20190315	OMIM			
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:1612	breast cancer		ISO	RGD:1350768	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, SOMATIC	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:234	colon adenocarcinoma	ameliorates	ISO	RGD:1350768	D	RGD:11522474|PMID:26196590	20220105	RGD		mRNA:decreased expression:colorectum (human)	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1350768	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1350768	D	RGD:150557424|PMID:25498886	20220105	RGD		mRNA:increased expression:lung (human)	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1350768	D	RGD:150557425|PMID:22237119	20220105	RGD		protein:increased expression:lung (human)	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1350768	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1350768	D	RGD:150557423|PMID:32726996	20220105	RGD		mRNA:increased expression:lung (human)	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:4362	cervical cancer		ISO	RGD:1350768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:4914	esophagus adenocarcinoma	disease_progression	ISO	RGD:1350768	D	RGD:150557426|PMID:23243219	20220105	RGD		DNA:hypermethylation: (human)	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1350768	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1350768	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:9007643	Embryonal Rhabdomyosarcoma 1		ISO	RGD:1350768	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:9007643	Embryonal Rhabdomyosarcoma 1		ISO	RGD:1350768	D	RGD:7240710	20190315	OMIM			
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350768	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	
1303323	Slc22a18	solute carrier family 22, member 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303324	Brd2	bromodomain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303324	Brd2	bromodomain containing 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:1350574	D	RGD:11554173	20170418	CTD		CTD Direct Evidence: marker/mechanism	PMID:24231268
1303324	Brd2	bromodomain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1303324	Brd2	bromodomain containing 2	gene	DOID:0060058	lymphoma		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1303324	Brd2	bromodomain containing 2	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1350574	D	RGD:9586345|PMID:14563639	20140929	RGD			
1303324	Brd2	bromodomain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1303324	Brd2	bromodomain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303324	Brd2	bromodomain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1303324	Brd2	bromodomain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1303324	Brd2	bromodomain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1350574	D	RGD:9586346|PMID:23950209	20140929	RGD		protein:mRNA:skin:	
1303324	Brd2	bromodomain containing 2	gene	DOID:2018	hyperinsulinism		ISO	RGD:1551876	D	RGD:9586446|PMID:19883376	20141001	RGD			
1303324	Brd2	bromodomain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1303324	Brd2	bromodomain containing 2	gene	DOID:3068	glioblastoma		ISO	RGD:1350574	D	RGD:11554173	20170418	CTD		CTD Direct Evidence: marker/mechanism	PMID:27388964
1303324	Brd2	bromodomain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303324	Brd2	bromodomain containing 2	gene	DOID:3159	photosensitivity disease	susceptibility	ISO	RGD:1350574	D	RGD:9586343|PMID:16516380	20140929	RGD		DNA:SNPs,haplotype: :	
1303324	Brd2	bromodomain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1303324	Brd2	bromodomain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1303324	Brd2	bromodomain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303324	Brd2	bromodomain containing 2	gene	DOID:4890	juvenile myoclonic epilepsy		ISO	RGD:1350574	D	RGD:1358444|PMID:12830434	19990101	RGD		DNA:SNPs:promoter (human)	
1303324	Brd2	bromodomain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350574	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303324	Brd2	bromodomain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1303324	Brd2	bromodomain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303324	Brd2	bromodomain containing 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1303324	Brd2	bromodomain containing 2	gene	DOID:707	B-cell lymphoma		ISO	RGD:1350574	D	RGD:9586345|PMID:14563639	20140929	RGD			
1303324	Brd2	bromodomain containing 2	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
1303324	Brd2	bromodomain containing 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:28492532
1303324	Brd2	bromodomain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303324	Brd2	bromodomain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303324	Brd2	bromodomain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1303324	Brd2	bromodomain containing 2	gene	DOID:9970	obesity		ISO	RGD:1551876	D	RGD:9586446|PMID:19883376	20141001	RGD			
1303325	Nelfe	negative elongation factor complex member E	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303325	Nelfe	negative elongation factor complex member E	gene	DOID:10534	stomach cancer		ISO	RGD:1344973	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303325	Nelfe	negative elongation factor complex member E	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303325	Nelfe	negative elongation factor complex member E	gene	DOID:1909	melanoma		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303325	Nelfe	negative elongation factor complex member E	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303325	Nelfe	negative elongation factor complex member E	gene	DOID:3275	thymoma		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303325	Nelfe	negative elongation factor complex member E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303325	Nelfe	negative elongation factor complex member E	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303325	Nelfe	negative elongation factor complex member E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303326	Dhps	deoxyhypusine synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303326	Dhps	deoxyhypusine synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303326	Dhps	deoxyhypusine synthase	gene	DOID:10534	stomach cancer		ISO	RGD:1602903	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303326	Dhps	deoxyhypusine synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303326	Dhps	deoxyhypusine synthase	gene	DOID:1826	epilepsy		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868|PMID:30661771
1303326	Dhps	deoxyhypusine synthase	gene	DOID:3275	thymoma		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303326	Dhps	deoxyhypusine synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303326	Dhps	deoxyhypusine synthase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1303326	Dhps	deoxyhypusine synthase	gene	DOID:9000463	Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment		ISO	RGD:1602903	D	RGD:7240710	20190807	OMIM			
1303326	Dhps	deoxyhypusine synthase	gene	DOID:9000463	Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment		ISO	RGD:1602903	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: DHPS-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment	PMID:25741868|PMID:30661771
1303326	Dhps	deoxyhypusine synthase	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1602903	D	RGD:597621636|PMID:38261723	20250205	RGD		protein:increased expression:pulmonary arterial smooth muscle:	
1303326	Dhps	deoxyhypusine synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303327	Tmed3	transmembrane p24 trafficking protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303327	Tmed3	transmembrane p24 trafficking protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303327	Tmed3	transmembrane p24 trafficking protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303328	Clint1	clathrin interactor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303328	Clint1	clathrin interactor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303328	Clint1	clathrin interactor 1	gene	DOID:1324	lung cancer		ISO	RGD:1602726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303328	Clint1	clathrin interactor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303328	Clint1	clathrin interactor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303328	Clint1	clathrin interactor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303328	Clint1	clathrin interactor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303328	Clint1	clathrin interactor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0050439	Usher syndrome		ISO	RGD:1553848	D	RGD:8694458|PMID:14519688	20140805	RGD			
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0050439	Usher syndrome		ISO	RGD:1553848	D	RGD:8695939|PMID:20095043	20140806	RGD			
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0050439	Usher syndrome		ISO	RGD:1604645	D	RGD:8547536|PMID:20212494	20140217	RGD			
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0050439	Usher syndrome		ISO	RGD:1604645	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:23380860|PMID:24033266|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30096381|PMID:30303587|PMID:30718709
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0050439	Usher syndrome		ISO	RGD:1604645	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24498627|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:33095980|PMID:9760205
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0050439	Usher syndrome		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:16199547|PMID:16963483|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24154662|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29739340|PMID:30245029|PMID:30303587|PMID:30718709|PMID:32581362|PMID:34391192|PMID:34426522|PMID:38219857
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0050439	Usher syndrome		ISO	RGD:1604645	D	RGD:8694457|PMID:11139240	20140805	RGD		DNA:mutations:cds:	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0050439	Usher syndrome	treatment	ISO	RGD:1604645	D	RGD:8695937|PMID:23380860	20140806	RGD			
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26969326|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0070655	Usher syndrome type 1B		ISO	RGD:1604645	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110473	autosomal recessive nonsyndromic deafness 18A		ISO	RGD:1553848	D	RGD:8694458|PMID:14519688	20140805	RGD			
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110473	autosomal recessive nonsyndromic deafness 18A		ISO	RGD:1604645	D	RGD:7240710	20130425	OMIM			
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110473	autosomal recessive nonsyndromic deafness 18A		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A | ClinVar Annotator: match by term: USH1C-related condition	PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:20095043|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21436283|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:25333064|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26969326|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32581362|PMID:38219857|PMID:9536098
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110473	autosomal recessive nonsyndromic deafness 18A		ISS	RGD:1553848	D	RGD:13592920	20230718	MouseDO		OMIM:602092	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110826	Usher syndrome type 1		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 1	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:16963483|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24154662|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29739340|PMID:30245029|PMID:30303587|PMID:30718709|PMID:34391192|PMID:34426522
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110826	Usher syndrome type 1		ISO	RGD:1604645	D	RGD:8695918|PMID:21487335	20140806	RGD		DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110826	Usher syndrome type 1		ISO	RGD:1604645	D	RGD:8695921|PMID:17407589	20140806	RGD		DNA:mutation:cds: c.216G>A(human)	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110826	Usher syndrome type 1	onset	ISO	RGD:1604645	D	RGD:8695919|PMID:23251578	20140806	RGD		DNA:deletion:exon:c.1220delG(human)	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110827	Usher syndrome type 2		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 2	PMID:25741868
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110830	Usher syndrome type 1C		ISO	RGD:1604645	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:12136232
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110830	Usher syndrome type 1C		ISO	RGD:1604645	D	RGD:1600453|PMID:10973247	20140806	RGD		DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human)	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110830	Usher syndrome type 1C		ISO	RGD:1604645	D	RGD:7240710	20130425	OMIM			
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110830	Usher syndrome type 1C		ISO	RGD:1604645	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 1C	PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:19297620|PMID:20095043|PMID:20142502|PMID:20146813|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23251578|PMID:23967202|PMID:24033266|PMID:24154662|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24875298|PMID:25262649|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:25788563|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32467589|PMID:9536098|PMID:9760205
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110830	Usher syndrome type 1C		ISO	RGD:1604645	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: USHER SYNDROME, TYPE I, ACADIAN VARIETY | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IC | ClinVar Annotator: match by term: Usher syndrome type 1C | ClinVar Annotator: match by term: Usher syndrome, type 1C	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:19297620|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21487335|PMID:21569298|PMID:22135276|PMID:22219650|PMID:22581970|PMID:23251578|PMID:23967202|PMID:24033266|PMID:24154662|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24875298|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:25788563|PMID:26445815|PMID:26969326|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29490346|PMID:29625443|PMID:29739340|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:31964843|PMID:32036094|PMID:32467589|PMID:32581362|PMID:32747562|PMID:33095980|PMID:33231815|PMID:33724713|PMID:33781268|PMID:34148116|PMID:34391192|PMID:34426522|PMID:36011334|PMID:36284460|PMID:38219857|PMID:9536098
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:0110830	Usher syndrome type 1C		ISS	RGD:1553848	D	RGD:13592920	20230718	MouseDO		OMIM:276904	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1553848	D	RGD:8695932|PMID:20211154	20140806	RGD			
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:10003	sensorineural hearing loss	susceptibility	ISO	RGD:1554257	D	RGD:1600453|PMID:10973247	20070309	RGD		DNA:splice-site mutation, frameshift mutation	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:10534	stomach cancer		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:27460420|PMID:28492532
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1604645	D	RGD:8547536|PMID:20212494	20140217	RGD			
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:1324	lung cancer		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:2841	asthma		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532|PMID:31858762
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:3070	high grade glioma		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:5041	esophageal cancer		ISO	RGD:1604645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:27460420|PMID:28492532
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:5723	optic atrophy		ISO	RGD:1604645	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:12136232|PMID:16963483|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:29739340|PMID:30245029|PMID:34391192|PMID:34426522
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:630	genetic disease		ISO	RGD:1604645	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532|PMID:31858762
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:8501	fundus dystrophy		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:16963483|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27208204|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29739340|PMID:30245029|PMID:30303587|PMID:30718709|PMID:34391192|PMID:34426522
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:9000343	Vision Disorders		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532|PMID:31858762
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:16199547|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26969326|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29625443|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1604645	D	RGD:8694454|PMID:12136232	20140805	RGD		DNA:mutations:cds:	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:9005581	Autosomal Recessive Nonsyndromic Deafness 18		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18 | ClinVar Annotator: match by term: Deafness, autosomal recessive 18	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:16199547|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:26969326|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709|PMID:31858762|PMID:32581362|PMID:38219857
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532|PMID:31858762
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532|PMID:31858762
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:9849	Meniere's disease		ISO	RGD:1604645	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:12136232|PMID:16963483|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:29739340|PMID:30245029|PMID:34391192|PMID:34426522
1303329	Ush1c	USH1 protein network component harmonin	gene	DOID:9970	obesity		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532|PMID:31858762
1303330	Prss57	serine protease 57	gene	DOID:0080600	COVID-19		ISO	RGD:1342482	D	RGD:9068941	20200613	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1303330	Prss57	serine protease 57	gene	DOID:1115	sarcoma		ISO	RGD:1342482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303330	Prss57	serine protease 57	gene	DOID:2843	long QT syndrome		ISO	RGD:1342482	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1303330	Prss57	serine protease 57	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17576681|PMID:28492532|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0050754	early-onset ataxia with oculomotor apraxia and hypoalbuminemia		ISO	RGD:1344743	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia-like syndrome	PMID:16199547|PMID:20118933|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31041400|PMID:31167812|PMID:32504494|PMID:35426160
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:31061747|PMID:31131953|PMID:32123317|PMID:33654647|PMID:34697416|PMID:37301908|PMID:38523675|PMID:38707135
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0070297	primary microcephaly		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:31061747|PMID:31131953|PMID:32123317|PMID:33654647|PMID:34697416|PMID:37301908|PMID:38523675|PMID:38707135
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0080457	microcephaly, seizures, and developmental delay		ISO	RGD:1344743	D	RGD:7240710	20130221	OMIM			
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0080457	microcephaly, seizures, and developmental delay		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 10 | ClinVar Annotator: match by term: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay	PMID:15749016|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20118933|PMID:22508754|PMID:23708187|PMID:23833122|PMID:24033266|PMID:24965255|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066567|PMID:27066586|PMID:27232581|PMID:28492532|PMID:29243230|PMID:29261713|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31041400|PMID:31061747|PMID:31131953|PMID:31167812|PMID:31436889|PMID:32010037|PMID:32056211|PMID:32123317|PMID:32504494|PMID:32666581|PMID:33332469|PMID:33654647|PMID:34009545|PMID:34697416|PMID:35426160|PMID:37061005|PMID:37301908|PMID:38523675|PMID:38707135|PMID:41283299|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1344743	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12	PMID:10446192|PMID:10446193|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15385968|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:20852255|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:23833122|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066567|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28453785|PMID:28492532|PMID:29056246|PMID:29243230|PMID:29261713|PMID:29498415|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31041400|PMID:31061747|PMID:31167812|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32123317|PMID:32347949|PMID:32504494|PMID:32666581|PMID:32980744|PMID:33332469|PMID:33654647|PMID:34009545|PMID:34040816|PMID:34697416|PMID:35354845|PMID:35426160|PMID:36627765|PMID:37301908|PMID:37916443|PMID:38374194|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1344743	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12	PMID:10446192|PMID:15381417|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20118933|PMID:22055185|PMID:22508754|PMID:23708187|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066567|PMID:27066586|PMID:27232581|PMID:28492532|PMID:29056246|PMID:29243230|PMID:29498415|PMID:29652299|PMID:29924869|PMID:30039206|PMID:31041400|PMID:31167812|PMID:32056211|PMID:32504494|PMID:32666581|PMID:35426160|PMID:36627765|PMID:36964972|PMID:38374194|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1344743	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12	PMID:10446192|PMID:15381417|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20118933|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23833122|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:27066586|PMID:27232581|PMID:28492532|PMID:29056246|PMID:29243230|PMID:29498415|PMID:29652299|PMID:29924869|PMID:30039206|PMID:31041400|PMID:31167812|PMID:31436889|PMID:31707899|PMID:32056211|PMID:32504494|PMID:32666581|PMID:33332469|PMID:34009545|PMID:35426160|PMID:36627765|PMID:36964972|PMID:38374194|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12	PMID:10446192|PMID:15381417|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20118933|PMID:22055185|PMID:22508754|PMID:23708187|PMID:23833122|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066567|PMID:27066586|PMID:27232581|PMID:28492532|PMID:29056246|PMID:29243230|PMID:29261713|PMID:29498415|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31041400|PMID:31061747|PMID:31131953|PMID:31167812|PMID:32056211|PMID:32123317|PMID:32504494|PMID:32666581|PMID:33332469|PMID:33654647|PMID:34009545|PMID:34697416|PMID:35426160|PMID:36627765|PMID:36964972|PMID:37301908|PMID:38374194|PMID:38523675|PMID:38707135|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0080768	pyridoxine-dependent epilepsy		ISO	RGD:1344743	D	RGD:8554872	20181009	ClinVar		ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy	PMID:25741868
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0081383	ataxia-oculomotor apraxia 4		ISO	RGD:1344743	D	RGD:7240710	20170215	OMIM			
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0081383	ataxia-oculomotor apraxia 4		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ATAXIA-OCULOMOTOR APRAXIA 4 | ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4	PMID:17576681|PMID:20118933|PMID:23833122|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31131953|PMID:31167812|PMID:32010037|PMID:32056211|PMID:32123317|PMID:33332469|PMID:33654647|PMID:34009545|PMID:34697416|PMID:36964972|PMID:37061005|PMID:37301908|PMID:38523675|PMID:38707135|PMID:41283299|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0110179	Charcot-Marie-Tooth disease type 2B2		ISO	RGD:1344743	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0110179	Charcot-Marie-Tooth disease type 2B2		ISO	RGD:1344743	D	RGD:7240710	20200520	OMIM			
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:0110179	Charcot-Marie-Tooth disease type 2B2		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2	PMID:15749016|PMID:16199547|PMID:20118933|PMID:23833122|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31131953|PMID:32123317|PMID:33332469|PMID:33654647|PMID:34009545|PMID:34697416|PMID:37301908|PMID:38523675|PMID:38707135
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:1059	intellectual disability		ISO	RGD:1344743	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:20118933|PMID:22055185|PMID:22508754|PMID:23224214|PMID:24033266|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29498415|PMID:29655203|PMID:29720203|PMID:31061747|PMID:31131953|PMID:31436889|PMID:31707899|PMID:32123317|PMID:33654647|PMID:34697416|PMID:37301908|PMID:38523675|PMID:38707135
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:1059	intellectual disability		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:31061747|PMID:31131953|PMID:32123317|PMID:33654647|PMID:34697416|PMID:37301908|PMID:38523675|PMID:38707135
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:10907	microcephaly		ISO	RGD:1344743	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20118933
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:10907	microcephaly		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:31061747|PMID:31131953|PMID:32123317|PMID:33654647|PMID:34697416|PMID:37301908|PMID:38523675|PMID:38707135
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:11162	respiratory failure		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:10446192|PMID:15381417|PMID:28492532|PMID:29056246
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:11720	distal myopathy		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:25741868|PMID:28492532
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:11830	myopia		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17576681|PMID:28492532|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:11832	visual epilepsy		ISO	RGD:1344743	D	RGD:11554173	20260106	CTD		CTD Direct Evidence: marker/mechanism	PMID:20118933
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:12849	autistic disorder		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:17576681|PMID:28492532|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:1324	lung cancer		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:1596	depressive disorder		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:17576681|PMID:28492532|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:1826	epilepsy		ISO	RGD:1344743	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:10446192|PMID:15381417|PMID:20118933|PMID:22055185|PMID:22508754|PMID:23224214|PMID:25558065|PMID:25728773|PMID:25741868|PMID:27066567|PMID:27066586|PMID:27232581|PMID:28492532|PMID:29056246|PMID:29498415|PMID:30039206|PMID:31436889|PMID:31707899
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:1909	melanoma		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:2030	anxiety disorder		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17576681|PMID:28492532|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:31061747|PMID:31131953|PMID:32123317|PMID:33654647|PMID:34697416|PMID:37301908|PMID:38523675|PMID:38707135
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:2841	asthma		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:3275	thymoma		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:4362	cervical cancer		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:31061747|PMID:31131953|PMID:32123317|PMID:33654647|PMID:34697416|PMID:37301908|PMID:38523675|PMID:38707135
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:630	genetic disease		ISO	RGD:1344743	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10446192|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15749016|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32347949|PMID:33654647
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:630	genetic disease		ISO	RGD:1344743	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10446192|PMID:10446193|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15385968|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:20852255|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:23833122|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28453785|PMID:28492532|PMID:29056246|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32980744|PMID:33654647|PMID:34009545|PMID:34040816|PMID:35354845|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:630	genetic disease		ISO	RGD:1344743	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10446192|PMID:10446193|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15385968|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:20852255|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:23833122|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28453785|PMID:28492532|PMID:29056246|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32123317|PMID:32347949|PMID:32980744|PMID:33654647|PMID:34009545|PMID:34040816|PMID:34697416|PMID:35354845|PMID:36627765|PMID:37301908|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:630	genetic disease		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10446192|PMID:11112660|PMID:15381417|PMID:15749016|PMID:17576681|PMID:18414213|PMID:20118933|PMID:22055185|PMID:22508754|PMID:23708187|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27232581|PMID:28492532|PMID:29056246|PMID:29924869|PMID:30039206|PMID:32056211|PMID:32666581|PMID:36627765|PMID:38374194|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:630	genetic disease		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10446192|PMID:15381417|PMID:15749016|PMID:17576681|PMID:18414213|PMID:20118933|PMID:22055185|PMID:22508754|PMID:23708187|PMID:23833122|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27232581|PMID:28492532|PMID:29056246|PMID:29261713|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31131953|PMID:32056211|PMID:32123317|PMID:32666581|PMID:33332469|PMID:33654647|PMID:34009545|PMID:34697416|PMID:36627765|PMID:37301908|PMID:38374194|PMID:38523675|PMID:38707135|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:31061747|PMID:31131953|PMID:32123317|PMID:33654647|PMID:34697416|PMID:37301908|PMID:38523675|PMID:38707135
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:17576681|PMID:28492532|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9001031	Retrognathia		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9001150	neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cerebrum	PMID:15749016|PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:31131953|PMID:32123317|PMID:33654647|PMID:34697416|PMID:37301908|PMID:38523675|PMID:38707135
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:27066586|PMID:27232581|PMID:28492532
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:27066586|PMID:27232581|PMID:28492532
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:17576681|PMID:28492532|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9004866	Ataxia		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:17576681|PMID:25728773|PMID:25741868|PMID:27066567|PMID:28492532|PMID:30039206|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:31061747|PMID:31131953|PMID:32123317|PMID:33654647|PMID:34697416|PMID:37301908|PMID:38523675|PMID:38707135
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10446192|PMID:15381417|PMID:17576681|PMID:25741868|PMID:27066586|PMID:27232581|PMID:28492532|PMID:29056246|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:20118933|PMID:25741868|PMID:28492532|PMID:30039206|PMID:32056211|PMID:38374194
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9007661	Dwarfism		ISO	RGD:1344743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066586|PMID:27232581|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:31061747|PMID:31131953|PMID:32123317|PMID:33654647|PMID:34697416|PMID:37301908|PMID:38523675|PMID:38707135
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9007722	Myoclonus		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:17576681|PMID:28492532|PMID:9536098
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344743	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20118933
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344743	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9008840	DNA Repair-Deficiency Disorders		ISO	RGD:1344743	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20118933
1303331	Pnkp	polynucleotide kinase 3'-phosphatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303334	Hyal3	hyaluronidase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1303334	Hyal3	hyaluronidase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303335	Ggt6	gamma-glutamyl transferase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603275	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1303335	Ggt6	gamma-glutamyl transferase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26457647
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:27317772|PMID:28941052
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1606038	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Diffuse large B cell lymphoma	PMID:25363760|PMID:25741868|PMID:29900417|PMID:30478443|PMID:32581362|PMID:33238114|PMID:34315901
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413734|PMID:24413737
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1606038	D	RGD:11554173	20220208	CTD		CTD Direct Evidence: marker/mechanism	PMID:32431489
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0050908	myelodysplastic syndrome	disease_progression	ISO	RGD:1606038	D	RGD:11041122|PMID:21415852	20160322	RGD		DNA:mutations:cds:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0050908	myelodysplastic syndrome	disease_progression	ISO	RGD:1606038	D	RGD:11041124|PMID:22066015	20160322	RGD		DNA:missense mutation:exon:p.R882 (human)	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25290267
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders	PMID:23849776|PMID:25426837|PMID:25426838|PMID:25741868|PMID:27525107|PMID:27993330|PMID:28492532|PMID:31371348|PMID:31861499|PMID:31981491|PMID:32435502|PMID:34429321|PMID:34644003|PMID:34661724|PMID:35101336|PMID:35982159|PMID:36329185
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1606038	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myeloproliferative disorder	PMID:25363760|PMID:25741868|PMID:29900417|PMID:30478443|PMID:32581362|PMID:33238114|PMID:34315901
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0080708	medulloblastoma non-WNT/non-SHH group 4		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 4	PMID:27543768|PMID:27993330|PMID:34429321
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0112339	Tatton-Brown-Rahman syndrome		ISO	RGD:1606038	D	RGD:7240710	20170419	OMIM			
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0112339	Tatton-Brown-Rahman syndrome		ISO	RGD:1606038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: TATTON-BROWN-RAHMAN SYNDROME | ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome | ClinVar Annotator: match by term: Tatton-Brown-Rahman syndrome | ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome	PMID:16199547|PMID:17576681|PMID:21067377|PMID:21415852|PMID:21537334|PMID:21670448|PMID:21967546|PMID:22077061|PMID:22124213|PMID:22216861|PMID:22289988|PMID:22291079|PMID:22417203|PMID:22722750|PMID:22722925|PMID:23341344|PMID:23632886|PMID:23849776|PMID:24614070|PMID:24936645|PMID:25172541|PMID:25281355|PMID:25363760|PMID:25363768|PMID:25426837|PMID:25426838|PMID:25650308|PMID:25741868|PMID:26689913|PMID:27276561|PMID:27288520|PMID:27317772|PMID:27418649|PMID:27525107|PMID:27636998|PMID:27701732|PMID:27733013|PMID:27771989|PMID:27993330|PMID:28432085|PMID:28475857|PMID:28492532|PMID:28941052|PMID:29758562|PMID:29900417|PMID:30478443|PMID:30544257|PMID:30705090|PMID:31371348|PMID:31620784|PMID:31685998|PMID:31861499|PMID:31961069|PMID:31981491|PMID:32435502|PMID:32581362|PMID:33057194|PMID:33238114|PMID:3409205|PMID:34092059|PMID:34315901|PMID:34429321|PMID:34644003|PMID:34661724|PMID:34721301|PMID:34788385|PMID:35101336|PMID:35556126|PMID:35904121|PMID:35982159|PMID:35982160|PMID:36329185|PMID:36528185|PMID:36964972|PMID:37795572|PMID:37872275|PMID:37906855|PMID:38041495|PMID:38937076|PMID:38960581|PMID:9536098
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:0112339	Tatton-Brown-Rahman syndrome		ISS	RGD:1620920	D	RGD:13592920	20250508	MouseDO		OMIM:615879	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:1606038	D	RGD:9589068|PMID:20128888	20141106	RGD		DNA:polymorphism:promoter:-488A>G(rs36012910)(human)	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:1059	intellectual disability		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24614070
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:1059	intellectual disability		ISO	RGD:1606038	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disability, borderline	PMID:25741868|PMID:27317772|PMID:28492532|PMID:28941052|PMID:29740169
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:10892	hypospadias		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:10907	microcephaly		ISO	RGD:1606038	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30478443
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:10907	microcephaly		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:10908	hydrocephalus		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:1115	sarcoma		ISO	RGD:1606038	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24614070|PMID:25741868|PMID:28492532|PMID:37906855|PMID:38937076
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:11199	hypoparathyroidism		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism	PMID:25741868|PMID:27317772|PMID:28941052
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:11383	cryptorchidism		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:25741868
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1620920	D	RGD:9589072|PMID:22031875	20141106	RGD		protein:increased expression:brain:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:11782	astigmatism		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:12849	autistic disorder		ISO	RGD:1606038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:23849776|PMID:24614070|PMID:25426837|PMID:25426838|PMID:25741868|PMID:27525107|PMID:27993330|PMID:28492532|PMID:31371348|PMID:31861499|PMID:31981491|PMID:32435502|PMID:34429321|PMID:34644003|PMID:34661724|PMID:35101336|PMID:35982159|PMID:36329185
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1606038	D	RGD:9588658|PMID:24548441	20141104	RGD		protein:increased expression:lung:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:13620	patent foramen ovale		ISO	RGD:1606038	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:21067377|PMID:22744846|PMID:22898539|PMID:24606448|PMID:24656771|PMID:25741868|PMID:27317772|PMID:27991732|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30478443|PMID:31164355|PMID:31620784|PMID:31961069|PMID:32015320|PMID:35101336
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1606038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23849776|PMID:25426837|PMID:25426838|PMID:25741868|PMID:27525107|PMID:27993330|PMID:28492532|PMID:31371348|PMID:31861499|PMID:31981491|PMID:32435502|PMID:34429321|PMID:34644003|PMID:34661724|PMID:35101336|PMID:35982159|PMID:36329185
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:14654	prostatitis		IEP		D	RGD:9588290|PMID:20056826	20141024	RGD		mRNA,protein:increased expression:prostate gland ventral lobe:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:1596	depressive disorder		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532|PMID:29900417
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:1596	depressive disorder		ISO	RGD:1620920	D	RGD:9589061|PMID:20729844	20141105	RGD		mRNA:increased expression:nucleus accumbens:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:1673	pneumothorax		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumothorax	PMID:25741868|PMID:27317772|PMID:28941052
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:1682	congenital heart disease		IEP		D	RGD:9588314|PMID:23333085	20141028	RGD		associated with Vitamin A Deficiency; mRNA:decreased expression:heart:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:1826	epilepsy		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27317772|PMID:28492532|PMID:28941052
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:1909	melanoma		ISO	RGD:1606038	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24614070|PMID:28475857|PMID:28492532|PMID:29900417
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:2030	anxiety disorder		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532|PMID:29900417
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:2034	encephalomalacia		ISO	RGD:1606038	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: encephalomalacia	PMID:21067377|PMID:21670448|PMID:22291079|PMID:22722925|PMID:23632886|PMID:24622842|PMID:24656771|PMID:24936645|PMID:25741868|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28252636|PMID:28492532|PMID:28643785|PMID:28941052|PMID:30185810|PMID:31164355|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32015320|PMID:32123902|PMID:32385248|PMID:34788385|PMID:35101336
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:1620920	D	RGD:2289681|PMID:17178860	20141107	RGD		mRNA:increased expression:prostate gland:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:288	endometriosis of uterus		ISO	RGD:1606038	D	RGD:9588664|PMID:22572543	20141104	RGD		protein:decreased expression:endometrium:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:289	endometriosis		ISO	RGD:1606038	D	RGD:9588669|PMID:17081533	20141104	RGD		mRNA:increased expression:endometrium:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:3068	glioblastoma		ISO	RGD:1606038	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Glioblastoma	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:3070	high grade glioma		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:3312	bipolar disorder		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532|PMID:29900417
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1620920	D	RGD:9589066|PMID:24399935	20141106	RGD		protein:decreased expression:mitochondrion:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:3525	middle cerebral artery infarction		IMP		D	RGD:9589049|PMID:23516428	20141105	RGD			
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:3565	meningioma		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:11836534|PMID:15456878|PMID:23031157|PMID:27993330|PMID:29900417|PMID:34315901|PMID:34429321|PMID:36266353
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:3650	lactic acidosis		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:3905	lung carcinoma	disease_progression	IDA		D	RGD:9588222|PMID:21163286	20141022	RGD		protein:increased expression:nucleus:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1606038	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:22898541|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28166811|PMID:28252636|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: papillary thyroid carcinoma	PMID:25741868|PMID:28492532|PMID:33182397
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606038	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27292127
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:480	movement disease		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:1606038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:23849776|PMID:25426837|PMID:25426838|PMID:25741868|PMID:27525107|PMID:27993330|PMID:28492532|PMID:31371348|PMID:31861499|PMID:31981491|PMID:32435502|PMID:34429321|PMID:34644003|PMID:34661724|PMID:35101336|PMID:35982159|PMID:36329185
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:4961	bone marrow disease		ISO	RGD:1620920	D	RGD:11041127|PMID:25416277	20160322	RGD			
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1606038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1606038	D	RGD:8554872	20200326	ClinVar		ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:5603	T-cell acute lymphoblastic leukemia	disease_progression	ISO	RGD:1606038	D	RGD:9589073|PMID:23341344	20141106	RGD		DNA:mutations: :	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:5603	T-cell acute lymphoblastic leukemia	susceptibility	ISO	RGD:1606038	D	RGD:11041131|PMID:26072070	20160322	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation:exon:p.R882H(human)	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:630	genetic disease		ISO	RGD:1606038	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11836534|PMID:15456878|PMID:23031157|PMID:23849776|PMID:24614070|PMID:25426837|PMID:25426838|PMID:25741868|PMID:27525107|PMID:27993330|PMID:28475857|PMID:28492532|PMID:29900417|PMID:31371348|PMID:31861499|PMID:31981491|PMID:32435502|PMID:33057194|PMID:3409205|PMID:34092059|PMID:34315901|PMID:34429321|PMID:34644003|PMID:34661724|PMID:35101336|PMID:35982159|PMID:36266353|PMID:36329185|PMID:37906855|PMID:38041495|PMID:38937076
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606038	D	RGD:9588598|PMID:15885882	20141031	RGD		protein:increased expression:liver:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:7998	hyperthyroidism		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532|PMID:29900417
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:8488	polyhydramnios		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:8541	Sezary's disease		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:8552	chronic myeloid leukemia	disease_progression	ISO	RGD:1606038	D	RGD:9588667|PMID:11222358	20141104	RGD			
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:8778	Crohn's disease		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21102463
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:8864	acute monocytic leukemia		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21399634
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1606038	D	RGD:9588662|PMID:18683034	20141104	RGD		mRNA:decreased expression:mononuclear cell	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:34315901
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9001487	Facies		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24614070
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:28492532|PMID:29900417
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532|PMID:29900417
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9003426	Glycosuria		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycosuria	PMID:25741868
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9003507	Premature Birth		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9003676	Brain Hypoxia-Ischemia		IEP		D	RGD:9588620|PMID:23716065	20141103	RGD		protein:decreased expression:brain:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:27317772|PMID:28941052
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9004253	Immunoblastic Lymphadenopathy		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413737
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:24614070|PMID:25741868|PMID:28492532
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9004507	Hirsutism		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:28492532|PMID:29900417|PMID:34315901
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9005077	Joint Instability		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:27317772|PMID:28492532|PMID:28941052|PMID:29900417
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9005184	Heyn-Sproul-Jackson Syndrome		ISO	RGD:1606038	D	RGD:7240710	20200226	OMIM			
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9005184	Heyn-Sproul-Jackson Syndrome		ISO	RGD:1606038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: HEYN-SPROUL-JACKSON SYNDROME | ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome	PMID:23849776|PMID:25426837|PMID:25426838|PMID:25650308|PMID:25741868|PMID:27525107|PMID:27993330|PMID:28492532|PMID:29740169|PMID:31371348|PMID:31861499|PMID:31981491|PMID:32435502|PMID:33182397|PMID:34429321|PMID:34644003|PMID:34661724|PMID:35101336|PMID:35982159|PMID:36329185
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27317772|PMID:28492532|PMID:28941052|PMID:29900417|PMID:34315901
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:25741868|PMID:27317772|PMID:28941052
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9006257	Growth Disorders		ISO	RGD:1606038	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:24614070|PMID:30478443
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9006617	Fatigue		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9006743	Spasm		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9007001	Bradycardia		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:25741868
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9007081	Cluster Headache		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cluster headache	PMID:28492532
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9007573	Flatfoot		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9007661	Dwarfism		ISO	RGD:1606038	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30478443
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9007661	Dwarfism		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9007702	Carcinogenesis	disease_progression	IDA		D	RGD:9588222|PMID:21163286	20141022	RGD			
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9008023	Memory Disorders		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532|PMID:29900417
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24614070|PMID:25741868|PMID:27317772|PMID:28492532|PMID:28941052|PMID:34315901
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24614070
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22520950
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606038	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:27335278
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606038	D	RGD:7240710	20190315	OMIM			
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606038	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:23849776|PMID:24614070|PMID:25426837|PMID:25426838|PMID:25650308|PMID:25693834|PMID:25741868|PMID:27525107|PMID:27993330|PMID:28492532|PMID:31371348|PMID:31861499|PMID:31981491|PMID:32435502|PMID:32581362|PMID:34429321|PMID:34480172|PMID:34632574|PMID:34644003|PMID:34661724|PMID:35101336|PMID:35982159|PMID:36329185|PMID:36641501|PMID:37906855|PMID:38937076
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606038	D	RGD:9588667|PMID:11222358	20141104	RGD		mRNA:increased expression:CD34+ bone marrow cells	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606038	D	RGD:9589067|PMID:22291079	20141106	RGD		DNA:mutations:cds:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1606038	D	RGD:11041121|PMID:26242829	20160322	RGD		DNA:hypomethylation: :	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1606038	D	RGD:11041123|PMID:24512939	20160322	RGD		DNA:missense mutation:exon:p.R882 (human)	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:1606038	D	RGD:11041122|PMID:21415852	20160322	RGD		associated with Myelodysplastic Syndromes; DNA:mutations:cds:	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1606038	D	RGD:11041120|PMID:25609058	20160322	RGD		DNA:mutation::	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9538	multiple myeloma		ISO	RGD:1606038	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:1606038	D	RGD:11041125|PMID:25242092	20160322	RGD		DNA:mutations:exon, intron:p.R882(human)	
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9970	obesity		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1303336	Dnmt3a	DNA methyltransferase 3 alpha	gene	DOID:9993	hypoglycemia		ISO	RGD:1606038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
1303337	Arl9	ARF like GTPase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1303337	Arl9	ARF like GTPase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1606161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303337	Arl9	ARF like GTPase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303338	Spink6	serine peptidase inhibitor, Kazal type 6	gene	DOID:10534	stomach cancer		ISO	RGD:1351307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1303338	Spink6	serine peptidase inhibitor, Kazal type 6	gene	DOID:1115	sarcoma		ISO	RGD:1351307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1303338	Spink6	serine peptidase inhibitor, Kazal type 6	gene	DOID:1324	lung cancer		ISO	RGD:1351307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303338	Spink6	serine peptidase inhibitor, Kazal type 6	gene	DOID:4362	cervical cancer		ISO	RGD:1351307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1303339	Clec4d	C-type lectin domain family 4, member D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1303339	Clec4d	C-type lectin domain family 4, member D	gene	DOID:1324	lung cancer		ISO	RGD:1347298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1303339	Clec4d	C-type lectin domain family 4, member D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303339	Clec4d	C-type lectin domain family 4, member D	gene	DOID:850	lung disease		ISO	RGD:1347298	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21602193
1303339	Clec4d	C-type lectin domain family 4, member D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1303340	Vmac	vimentin-type intermediate filament associated coiled-coil protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1303340	Vmac	vimentin-type intermediate filament associated coiled-coil protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1303341	Reg4	regenerating family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1303341	Reg4	regenerating family member 4	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1352664	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17237819
1303341	Reg4	regenerating family member 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1303341	Reg4	regenerating family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:1324	lung cancer		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605311	D	RGD:5490966|PMID:18772397	20110926	RGD			
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:1909	melanoma		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:2394	ovarian cancer		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:4362	cervical cancer		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:4621	holoprosencephaly		ISO	RGD:1605311	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence	PMID:28677295
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:5041	esophageal cancer		ISO	RGD:1605311	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1605311	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304550	Boc	BOC cell adhesion associated, oncogene regulated	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1605311	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1304551	Ush1g	USH1 protein network component sans	gene	DOID:0050439	Usher syndrome		ISO	RGD:1312053	D	RGD:8547536|PMID:20212494	20140217	RGD			
1304551	Ush1g	USH1 protein network component sans	gene	DOID:0050439	Usher syndrome		ISO	RGD:1312053	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome	PMID:24033266|PMID:25741868|PMID:28492532
1304551	Ush1g	USH1 protein network component sans	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1312053	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:25741868
1304551	Ush1g	USH1 protein network component sans	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1312053	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:24033266|PMID:25255398|PMID:25741868|PMID:27068579|PMID:27353947|PMID:28492532|PMID:30245029|PMID:30311386|PMID:30828346|PMID:31637240|PMID:37734845
1304551	Ush1g	USH1 protein network component sans	gene	DOID:0110473	autosomal recessive nonsyndromic deafness 18A		ISO	RGD:1312053	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 18A	PMID:25741868|PMID:28492532
1304551	Ush1g	USH1 protein network component sans	gene	DOID:0110826	Usher syndrome type 1		ISO	RGD:1312053	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Usher Syndrome Type I | ClinVar Annotator: match by term: Usher syndrome type 1 | ClinVar Annotator: match by term: usher syndrome type 1	PMID:11941484|PMID:21569298|PMID:25741868|PMID:28492532
1304551	Ush1g	USH1 protein network component sans	gene	DOID:0110834	Usher syndrome type 1G		ISO	RGD:1312053	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	
1304551	Ush1g	USH1 protein network component sans	gene	DOID:0110834	Usher syndrome type 1G		ISO	RGD:1312053	D	RGD:7240710	20130221	OMIM			
1304551	Ush1g	USH1 protein network component sans	gene	DOID:0110834	Usher syndrome type 1G		ISO	RGD:1312053	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: USH1G-related condition | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IG | ClinVar Annotator: match by term: Usher syndrome type 1G	PMID:12588794|PMID:15660226|PMID:16283141|PMID:17576681|PMID:17896313|PMID:20142502|PMID:22219650|PMID:24033266|PMID:25255398|PMID:25741868|PMID:27068579|PMID:27353947|PMID:28492532|PMID:28944237|PMID:30245029|PMID:30311386|PMID:30828346|PMID:31637240|PMID:35802133|PMID:36633841|PMID:37734845|PMID:9536098
1304551	Ush1g	USH1 protein network component sans	gene	DOID:0110834	Usher syndrome type 1G		ISS	RGD:1549969	D	RGD:13592920	20230718	MouseDO		OMIM:606943	
1304551	Ush1g	USH1 protein network component sans	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312053	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment	PMID:25741868
1304551	Ush1g	USH1 protein network component sans	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1312053	D	RGD:8547536|PMID:20212494	20140217	RGD			
1304551	Ush1g	USH1 protein network component sans	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304551	Ush1g	USH1 protein network component sans	gene	DOID:5723	optic atrophy		ISO	RGD:1312053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:24033266|PMID:25741868|PMID:28492532
1304551	Ush1g	USH1 protein network component sans	gene	DOID:630	genetic disease		ISO	RGD:1312053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1304551	Ush1g	USH1 protein network component sans	gene	DOID:8501	fundus dystrophy		ISO	RGD:1312053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1304551	Ush1g	USH1 protein network component sans	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312053	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:30029624
1304551	Ush1g	USH1 protein network component sans	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312053	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:24033266|PMID:25255398|PMID:25741868|PMID:27068579|PMID:27353947|PMID:28492532|PMID:30245029|PMID:30311386|PMID:30828346|PMID:31637240|PMID:37734845
1304551	Ush1g	USH1 protein network component sans	gene	DOID:9005581	Autosomal Recessive Nonsyndromic Deafness 18		ISO	RGD:1312053	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18	PMID:25741868|PMID:28492532
1304551	Ush1g	USH1 protein network component sans	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss		ISO	RGD:1312053	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment	PMID:28492532|PMID:30029624
1304551	Ush1g	USH1 protein network component sans	gene	DOID:9008681	Deafness		ISO	RGD:1312053	D	RGD:1599547|PMID:12588794	20070207	RGD		Usher syndrome, type IG, OMIM:607696	
1304551	Ush1g	USH1 protein network component sans	gene	DOID:9008681	Deafness		ISO	RGD:1312053	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:25741868
1304553	Ifi35	interferon-induced protein 35	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304553	Ifi35	interferon-induced protein 35	gene	DOID:10534	stomach cancer		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304553	Ifi35	interferon-induced protein 35	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304553	Ifi35	interferon-induced protein 35	gene	DOID:1324	lung cancer		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304553	Ifi35	interferon-induced protein 35	gene	DOID:3021	acute kidney failure		ISO	RGD:1312056	D	RGD:11554173	20260602	CTD		CTD Direct Evidence: therapeutic	PMID:40654249
1304553	Ifi35	interferon-induced protein 35	gene	DOID:3275	thymoma		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304553	Ifi35	interferon-induced protein 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304553	Ifi35	interferon-induced protein 35	gene	DOID:9001488	Human Influenza		ISO	RGD:1312056	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1304553	Ifi35	interferon-induced protein 35	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312056	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1304553	Ifi35	interferon-induced protein 35	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1312056	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1304553	Ifi35	interferon-induced protein 35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304555	Cog3	component of oligomeric golgi complex 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304555	Cog3	component of oligomeric golgi complex 3	gene	DOID:0051047	congenital disorder of glycosylation type IIbb		ISO	RGD:1312059	D	RGD:7240710	20231025	OMIM			
1304555	Cog3	component of oligomeric golgi complex 3	gene	DOID:0051047	congenital disorder of glycosylation type IIbb		ISO	RGD:1312059	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIbb	PMID:25741868
1304555	Cog3	component of oligomeric golgi complex 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304555	Cog3	component of oligomeric golgi complex 3	gene	DOID:1115	sarcoma		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304555	Cog3	component of oligomeric golgi complex 3	gene	DOID:1324	lung cancer		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304555	Cog3	component of oligomeric golgi complex 3	gene	DOID:3275	thymoma		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304555	Cog3	component of oligomeric golgi complex 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304555	Cog3	component of oligomeric golgi complex 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304555	Cog3	component of oligomeric golgi complex 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312059	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304555	Cog3	component of oligomeric golgi complex 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304555	Cog3	component of oligomeric golgi complex 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304555	Cog3	component of oligomeric golgi complex 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304555	Cog3	component of oligomeric golgi complex 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304556	Actg1	actin, gamma 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304556	Actg1	actin, gamma 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1312061	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: lissencephaly	PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness	PMID:13680526|PMID:19419963|PMID:19477959|PMID:22718764|PMID:25741868|PMID:2579266|PMID:25792668|PMID:27463135|PMID:30311386|PMID:30599039|PMID:32341388|PMID:34997062
1304556	Actg1	actin, gamma 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:0060260	ptosis		ISO	RGD:1312061	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:22366783|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal pseudo-obstruction	PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1312061	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract	PMID:13680526|PMID:18414213|PMID:22366783|PMID:25052316|PMID:26188271|PMID:27625340|PMID:30143558
1304556	Actg1	actin, gamma 1	gene	DOID:0081112	Baraitser-Winter syndrome 1		ISO	RGD:1312061	D	RGD:8554872	20250723	ClinVar		ClinVar Annotator: match by term: Baraitser-Winter syndrome 1	PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:0081113	Baraitser-Winter syndrome 2		ISO	RGD:1312061	D	RGD:7240710	20140903	OMIM			
1304556	Actg1	actin, gamma 1	gene	DOID:0081113	Baraitser-Winter syndrome 2		ISO	RGD:1312061	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-Winter syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2	PMID:11474115|PMID:13680526|PMID:18414213|PMID:19477959|PMID:19548389|PMID:20301607|PMID:22366783|PMID:24033266|PMID:25052316|PMID:25741868|PMID:25792668|PMID:26188271|PMID:26467025|PMID:26832775|PMID:27625340|PMID:28000701|PMID:28492532|PMID:29357087|PMID:29620237|PMID:29758562|PMID:29986705|PMID:30008475|PMID:30143558|PMID:30311386|PMID:30622556|PMID:31116477|PMID:32028042|PMID:32341388|PMID:33584783|PMID:33604570|PMID:33726816|PMID:34440452|PMID:34448047|PMID:36194208|PMID:36810952|PMID:38790200
1304556	Actg1	actin, gamma 1	gene	DOID:0110550	autosomal dominant nonsyndromic deafness 20		ISO	RGD:1312061	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304556	Actg1	actin, gamma 1	gene	DOID:0110550	autosomal dominant nonsyndromic deafness 20		ISO	RGD:1312061	D	RGD:7240710	20140219	OMIM			
1304556	Actg1	actin, gamma 1	gene	DOID:0110550	autosomal dominant nonsyndromic deafness 20		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 20 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 20	PMID:11474115|PMID:13680526|PMID:14684684|PMID:17576681|PMID:18414213|PMID:19419963|PMID:19477959|PMID:19548389|PMID:20301607|PMID:22200607|PMID:22366783|PMID:22718764|PMID:23506231|PMID:24033266|PMID:25052316|PMID:25741868|PMID:2579266|PMID:25792668|PMID:26188271|PMID:26467025|PMID:26832775|PMID:27463135|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29357087|PMID:29620237|PMID:29907799|PMID:29986705|PMID:30008475|PMID:30311386|PMID:30599039|PMID:30622556|PMID:31116477|PMID:31231230|PMID:32028042|PMID:32341388|PMID:33584783|PMID:33604570|PMID:34440452|PMID:34448047|PMID:34997062|PMID:35802133|PMID:36194208|PMID:36633841|PMID:36810952|PMID:9536098
1304556	Actg1	actin, gamma 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:13680526|PMID:19419963|PMID:19477959|PMID:22718764|PMID:25741868|PMID:2579266|PMID:25792668|PMID:27463135|PMID:28492532|PMID:30311386|PMID:30599039|PMID:32341388|PMID:34997062
1304556	Actg1	actin, gamma 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:1059	intellectual disability		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:28492532|PMID:30008475|PMID:33584783
1304556	Actg1	actin, gamma 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1312061	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:22366783|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304556	Actg1	actin, gamma 1	gene	DOID:1115	sarcoma		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:1143	exotropia		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:11476	osteoporosis		ISO	RGD:1312061	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
1304556	Actg1	actin, gamma 1	gene	DOID:12270	coloboma		ISO	RGD:1312061	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22366783
1304556	Actg1	actin, gamma 1	gene	DOID:12849	autistic disorder		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:1324	lung cancer		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1304556	Actg1	actin, gamma 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1304556	Actg1	actin, gamma 1	gene	DOID:1909	melanoma		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24033266|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:2841	asthma		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:305	carcinoma		ISO	RGD:1312061	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1304556	Actg1	actin, gamma 1	gene	DOID:3275	thymoma		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:24033266|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:24033266|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:630	genetic disease		ISO	RGD:1312061	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:13680526|PMID:18414213|PMID:22366783|PMID:24033266|PMID:25052316|PMID:25741868|PMID:26188271|PMID:27625340|PMID:28492532|PMID:30143558
1304556	Actg1	actin, gamma 1	gene	DOID:6364	migraine		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:870	neuropathy		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:28492532
1304556	Actg1	actin, gamma 1	gene	DOID:9000307	Presbycusis		ISO	RGD:3077730	D	RGD:1331525|PMID:15118671	19990101	GAD			
1304556	Actg1	actin, gamma 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1312061	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1304556	Actg1	actin, gamma 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:29357087|PMID:29620237
1304556	Actg1	actin, gamma 1	gene	DOID:9001581	Constipation		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1304556	Actg1	actin, gamma 1	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1312061	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
1304556	Actg1	actin, gamma 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:27240540
1304556	Actg1	actin, gamma 1	gene	DOID:9004369	Hypesthesia		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoesthesia	PMID:25741868|PMID:28492532
1304556	Actg1	actin, gamma 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312061	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:22366783|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312061	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:19477959|PMID:20301607|PMID:24033266|PMID:25741868|PMID:25792668|PMID:28492532|PMID:30311386
1304556	Actg1	actin, gamma 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11474115|PMID:19477959|PMID:20301607|PMID:24033266|PMID:25741868|PMID:25792668|PMID:26832775|PMID:28492532|PMID:29357087|PMID:29620237|PMID:30311386|PMID:32341388|PMID:36194208
1304556	Actg1	actin, gamma 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	
1304556	Actg1	actin, gamma 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1312061	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1304556	Actg1	actin, gamma 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304556	Actg1	actin, gamma 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1312061	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22366783
1304556	Actg1	actin, gamma 1	gene	DOID:9006617	Fatigue		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
1304556	Actg1	actin, gamma 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1312061	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25401301
1304556	Actg1	actin, gamma 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:30008475|PMID:33584783
1304556	Actg1	actin, gamma 1	gene	DOID:9008385	Vomiting		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1312061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1312061	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22366783
1304556	Actg1	actin, gamma 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868
1304556	Actg1	actin, gamma 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868
1304559	Wnt6	Wnt family member 6	gene	DOID:0060058	lymphoma		ISO	RGD:1312067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304559	Wnt6	Wnt family member 6	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1312067	D	RGD:8554872	20181206	ClinVar		ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX	
1304559	Wnt6	Wnt family member 6	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1312068	D	RGD:2298845|PMID:18649356	20080728	RGD			
1304559	Wnt6	Wnt family member 6	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1312068	D	RGD:2298848|PMID:9419423	20080729	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	
1304559	Wnt6	Wnt family member 6	gene	DOID:9005233	Experimental Mammary Neoplasms	no_association	ISO	RGD:1312068	D	RGD:2298863|PMID:8065359	20080729	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	
1304559	Wnt6	Wnt family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304560	Fahd1	fumarylacetoacetate hydrolase domain containing 1	gene	DOID:1826	epilepsy		ISO	RGD:1348488	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:28492532
1304560	Fahd1	fumarylacetoacetate hydrolase domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1348488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304560	Fahd1	fumarylacetoacetate hydrolase domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304560	Fahd1	fumarylacetoacetate hydrolase domain containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348488	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1304560	Fahd1	fumarylacetoacetate hydrolase domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1304561	Chchd6	coiled-coil-helix-coiled-coil-helix domain containing 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304561	Chchd6	coiled-coil-helix-coiled-coil-helix domain containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1312070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304561	Chchd6	coiled-coil-helix-coiled-coil-helix domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304561	Chchd6	coiled-coil-helix-coiled-coil-helix domain containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304561	Chchd6	coiled-coil-helix-coiled-coil-helix domain containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1349688	D	RGD:8554872	20221220	ClinVar		ClinVar Annotator: match by term: Non-syndromic renal or urinary tract malformation	PMID:25741868
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1349688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1349688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:1909	melanoma		ISO	RGD:1349688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:3275	thymoma		ISO	RGD:1349688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349688	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:630	genetic disease		ISO	RGD:1349688	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1349688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304562	Tbc1d1	TBC1 domain family member 1	gene	DOID:9970	obesity		ISO	RGD:1349688	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16893906|PMID:18325908|PMID:18931681
1304563	Syne3	spectrin repeat containing, nuclear envelope family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312072	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304563	Syne3	spectrin repeat containing, nuclear envelope family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304563	Syne3	spectrin repeat containing, nuclear envelope family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304563	Syne3	spectrin repeat containing, nuclear envelope family member 3	gene	DOID:12858	Huntington's disease		ISO	RGD:1312072	D	RGD:9068941	20200609	RGD		up-regulated	PMID:22202438|REF_RGD_ID:11073597
1304563	Syne3	spectrin repeat containing, nuclear envelope family member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304563	Syne3	spectrin repeat containing, nuclear envelope family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304563	Syne3	spectrin repeat containing, nuclear envelope family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304563	Syne3	spectrin repeat containing, nuclear envelope family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304563	Syne3	spectrin repeat containing, nuclear envelope family member 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1312072	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1304563	Syne3	spectrin repeat containing, nuclear envelope family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312072	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304563	Syne3	spectrin repeat containing, nuclear envelope family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304563	Syne3	spectrin repeat containing, nuclear envelope family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304563	Syne3	spectrin repeat containing, nuclear envelope family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:1324	lung cancer		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:3275	thymoma		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:4362	cervical cancer		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312076	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304565	Senp6	SUMO specific peptidase 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304566	Igsf9	immunoglobulin superfamily, member 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304566	Igsf9	immunoglobulin superfamily, member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304566	Igsf9	immunoglobulin superfamily, member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304566	Igsf9	immunoglobulin superfamily, member 9	gene	DOID:1115	sarcoma		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304566	Igsf9	immunoglobulin superfamily, member 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304566	Igsf9	immunoglobulin superfamily, member 9	gene	DOID:3275	thymoma		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304566	Igsf9	immunoglobulin superfamily, member 9	gene	DOID:4362	cervical cancer		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304566	Igsf9	immunoglobulin superfamily, member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1312078	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304566	Igsf9	immunoglobulin superfamily, member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304566	Igsf9	immunoglobulin superfamily, member 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312078	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304566	Igsf9	immunoglobulin superfamily, member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304566	Igsf9	immunoglobulin superfamily, member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304566	Igsf9	immunoglobulin superfamily, member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304567	C5h1orf174	similar to human chromosome 1 open reading frame 174	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304567	C5h1orf174	similar to human chromosome 1 open reading frame 174	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304567	C5h1orf174	similar to human chromosome 1 open reading frame 174	gene	DOID:1115	sarcoma		ISO	RGD:1603248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304567	C5h1orf174	similar to human chromosome 1 open reading frame 174	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603248	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1304567	C5h1orf174	similar to human chromosome 1 open reading frame 174	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1304567	C5h1orf174	similar to human chromosome 1 open reading frame 174	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1312081	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:1115	sarcoma		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:11830	myopia		ISO	RGD:1312081	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:1324	lung cancer		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312081	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:5295	intestinal disease		ISO	RGD:12184798	D	RGD:9068941	20250925	OMIA		Lundehund syndrome	PMID:25860808|PMID:27485430|PMID:37405168|PMID:37582787|PMID:40965331|PMID:7946268|PMID:853728
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:5327	retinal detachment		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal detachment	PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:5723	optic atrophy		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:630	genetic disease		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:83	cataract		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:9002189	High Myopia		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:9005145	High Myopia with Cataract and Vitreoretinal Degeneration		ISO	RGD:1312081	D	RGD:7240710	20140911	OMIM			
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:9005145	High Myopia with Cataract and Vitreoretinal Degeneration		ISO	RGD:1312081	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION | ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration | ClinVar Annotator: match by term: P3H2-related condition	PMID:21885030|PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304568	P3h2	prolyl 3-hydroxylase 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:1312081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290
1304569	Fem1b	fem-1 homolog B	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1312083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1304569	Fem1b	fem-1 homolog B	gene	DOID:3275	thymoma		ISO	RGD:1312083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304569	Fem1b	fem-1 homolog B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304569	Fem1b	fem-1 homolog B	gene	DOID:9352	type 2 diabetes mellitus		ISS	RGD:1312084	D	RGD:13592920	20180518	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
1304570	Fn3krp	fructosamine-3-kinase-related protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304570	Fn3krp	fructosamine-3-kinase-related protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304570	Fn3krp	fructosamine-3-kinase-related protein	gene	DOID:1324	lung cancer		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304570	Fn3krp	fructosamine-3-kinase-related protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304570	Fn3krp	fructosamine-3-kinase-related protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1606224	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304570	Fn3krp	fructosamine-3-kinase-related protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304570	Fn3krp	fructosamine-3-kinase-related protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304570	Fn3krp	fructosamine-3-kinase-related protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304570	Fn3krp	fructosamine-3-kinase-related protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304570	Fn3krp	fructosamine-3-kinase-related protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1304570	Fn3krp	fructosamine-3-kinase-related protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304571	Ebpl	EBP like	gene	DOID:1909	melanoma		ISO	RGD:1312086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304571	Ebpl	EBP like	gene	DOID:4362	cervical cancer		ISO	RGD:1312086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304571	Ebpl	EBP like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304571	Ebpl	EBP like	gene	DOID:5041	esophageal cancer		ISO	RGD:1312086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304571	Ebpl	EBP like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304571	Ebpl	EBP like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304572	Rnf150	ring finger protein 150	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304572	Rnf150	ring finger protein 150	gene	DOID:10534	stomach cancer		ISO	RGD:1322589	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304572	Rnf150	ring finger protein 150	gene	DOID:1324	lung cancer		ISO	RGD:1322589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304572	Rnf150	ring finger protein 150	gene	DOID:3275	thymoma		ISO	RGD:1322589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304572	Rnf150	ring finger protein 150	gene	DOID:4362	cervical cancer		ISO	RGD:1322589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304572	Rnf150	ring finger protein 150	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304572	Rnf150	ring finger protein 150	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312089	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304573	Mast2	microtubule associated serine/threonine kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304574	Selenon	selenoprotein N	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1603617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:27854218
1304574	Selenon	selenoprotein N	gene	DOID:0050847	sleep apnea		ISO	RGD:1603617	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:16199547|PMID:21131290|PMID:21670436|PMID:25741868|PMID:28492532
1304574	Selenon	selenoprotein N	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1603617	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17576681|PMID:17951086|PMID:19067361|PMID:20301436|PMID:21670436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786|PMID:9536098
1304574	Selenon	selenoprotein N	gene	DOID:0060249	scoliosis		ISO	RGD:1603617	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17576681|PMID:17951086|PMID:19067361|PMID:20301436|PMID:21670436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786|PMID:9536098
1304574	Selenon	selenoprotein N	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1603617	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders	PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28558865|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32746448|PMID:32796131|PMID:33652732|PMID:7224095
1304574	Selenon	selenoprotein N	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1603617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: Myopathy, congenital, with fiber-type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders	PMID:11528383|PMID:12192640|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16199547|PMID:16365872|PMID:16498447|PMID:17204937|PMID:17576681|PMID:17951086|PMID:18414213|PMID:19067361|PMID:20301436|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28688748|PMID:30932294|PMID:31127727|PMID:31321302|PMID:31847883|PMID:32796131|PMID:32864802|PMID:33037864|PMID:34867752|PMID:37807786|PMID:9536098
1304574	Selenon	selenoprotein N	gene	DOID:0081337	congenital myopathy		ISO	RGD:1603617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868|PMID:34769022
1304574	Selenon	selenoprotein N	gene	DOID:0110633	rigid spine muscular dystrophy 1		ISO	RGD:1603617	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304574	Selenon	selenoprotein N	gene	DOID:0110633	rigid spine muscular dystrophy 1		ISO	RGD:1603617	D	RGD:1599352|PMID:11528383	20070130	RGD		DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human)	
1304574	Selenon	selenoprotein N	gene	DOID:0110633	rigid spine muscular dystrophy 1		ISO	RGD:1603617	D	RGD:7240710	20130221	OMIM			
1304574	Selenon	selenoprotein N	gene	DOID:0110633	rigid spine muscular dystrophy 1		ISO	RGD:1603617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 3 WITH RIGID SPINE | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar Annotator: match by term: MYOPATHY, SEPN1-RELATED | ClinVar Annotator: match by term: SELENON-related condition | ClinVar Annotator: match by term: SEPN1-related disorder | ClinVar Annotator: match by term: SEPN1-related myopathy	PMID:11528383|PMID:1219264|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16199547|PMID:16365872|PMID:16498447|PMID:16779558|PMID:17204937|PMID:17576681|PMID:17951086|PMID:18414213|PMID:19067361|PMID:19285539|PMID:19557870|PMID:19763152|PMID:20301436|PMID:20307669|PMID:20937510|PMID:21131290|PMID:21520333|PMID:21670436|PMID:22406018|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25635128|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066551|PMID:27863379|PMID:28492532|PMID:28558865|PMID:28688748|PMID:29172004|PMID:29669168|PMID:30932294|PMID:31127727|PMID:31321302|PMID:31690835|PMID:31847883|PMID:32154989|PMID:32528171|PMID:32746448|PMID:32796131|PMID:33037864|PMID:33184643|PMID:33333461|PMID:33762497|PMID:34602496|PMID:34769022|PMID:34867752|PMID:35368679|PMID:37807786|PMID:9536098
1304574	Selenon	selenoprotein N	gene	DOID:0110633	rigid spine muscular dystrophy 1		ISS	RGD:1312091	D	RGD:13592920	20230718	MouseDO		OMIM:602771	
1304574	Selenon	selenoprotein N	gene	DOID:0110926	congenital myopathy 4B		ISO	RGD:1603617	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cap myopathy 1	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17951086|PMID:19067361|PMID:20301436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786
1304574	Selenon	selenoprotein N	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304574	Selenon	selenoprotein N	gene	DOID:11914	gastroparesis		ISO	RGD:1603617	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastroparesis	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17576681|PMID:17951086|PMID:19067361|PMID:20301436|PMID:21670436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786|PMID:9536098
1304574	Selenon	selenoprotein N	gene	DOID:12849	autistic disorder		ISO	RGD:1603617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:17576681|PMID:21670436|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32796131|PMID:9536098
1304574	Selenon	selenoprotein N	gene	DOID:1324	lung cancer		ISO	RGD:1603617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304574	Selenon	selenoprotein N	gene	DOID:1909	melanoma		ISO	RGD:1603617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304574	Selenon	selenoprotein N	gene	DOID:422	congenital structural myopathy		ISO	RGD:1603617	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16199547|PMID:16365872|PMID:17204937|PMID:17576681|PMID:17951086|PMID:19067361|PMID:20301436|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28688748|PMID:30932294|PMID:31127727|PMID:31321302|PMID:31847883|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786|PMID:9536098
1304574	Selenon	selenoprotein N	gene	DOID:4362	cervical cancer		ISO	RGD:1603617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304574	Selenon	selenoprotein N	gene	DOID:5041	esophageal cancer		ISO	RGD:1603617	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17951086|PMID:19067361|PMID:20301436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786
1304574	Selenon	selenoprotein N	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304574	Selenon	selenoprotein N	gene	DOID:630	genetic disease		ISO	RGD:1603617	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17951086|PMID:19067361|PMID:20301436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786
1304574	Selenon	selenoprotein N	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304574	Selenon	selenoprotein N	gene	DOID:9000641	Pain		ISO	RGD:1603617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:25741868|PMID:28492532
1304574	Selenon	selenoprotein N	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603617	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17951086|PMID:19067361|PMID:20301436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786
1304574	Selenon	selenoprotein N	gene	DOID:9001716	Hip Contracture		ISO	RGD:1603617	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hip contracture	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17576681|PMID:17951086|PMID:19067361|PMID:20301436|PMID:21670436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786|PMID:9536098
1304574	Selenon	selenoprotein N	gene	DOID:9005077	Joint Instability		ISO	RGD:1603617	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1304574	Selenon	selenoprotein N	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1603617	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17576681|PMID:17951086|PMID:19067361|PMID:20301436|PMID:21670436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786|PMID:9536098
1304574	Selenon	selenoprotein N	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1603617	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17951086|PMID:19067361|PMID:20301436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786
1304574	Selenon	selenoprotein N	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603617	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17951086|PMID:19067361|PMID:20301436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786
1304574	Selenon	selenoprotein N	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304574	Selenon	selenoprotein N	gene	DOID:9007105	Hyperemesis Gravidarum		ISO	RGD:1603617	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hyperemesis gravidarum	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17576681|PMID:17951086|PMID:19067361|PMID:20301436|PMID:21670436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786|PMID:9536098
1304574	Selenon	selenoprotein N	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603617	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17576681|PMID:17951086|PMID:19067361|PMID:20301436|PMID:21670436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786|PMID:9536098
1304574	Selenon	selenoprotein N	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1603617	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17576681|PMID:17951086|PMID:19067361|PMID:20301436|PMID:21670436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786|PMID:9536098
1304574	Selenon	selenoprotein N	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304574	Selenon	selenoprotein N	gene	DOID:9477	pulmonary embolism		ISO	RGD:1603617	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism	PMID:12192640|PMID:15122708|PMID:15668457|PMID:16365872|PMID:17204937|PMID:17576681|PMID:17951086|PMID:19067361|PMID:20301436|PMID:21670436|PMID:23394784|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32796131|PMID:33037864|PMID:34867752|PMID:37807786|PMID:9536098
1304574	Selenon	selenoprotein N	gene	DOID:9884	muscular dystrophy		ISO	RGD:1603617	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17123513
1304574	Selenon	selenoprotein N	gene	DOID:9884	muscular dystrophy		ISO	RGD:1603617	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:16199547|PMID:21131290|PMID:21670436|PMID:24033266|PMID:25741868|PMID:28492532
1304575	Map3k3	mitogen activated protein kinase kinase kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304575	Map3k3	mitogen activated protein kinase kinase kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304575	Map3k3	mitogen activated protein kinase kinase kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304575	Map3k3	mitogen activated protein kinase kinase kinase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304575	Map3k3	mitogen activated protein kinase kinase kinase 3	gene	DOID:5241	hemangioblastoma		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioblastoma	PMID:25728774|PMID:27993330|PMID:33729480|PMID:33891857|PMID:33899768|PMID:35355835|PMID:36995941
1304575	Map3k3	mitogen activated protein kinase kinase kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304575	Map3k3	mitogen activated protein kinase kinase kinase 3	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1312092	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17068819
1304575	Map3k3	mitogen activated protein kinase kinase kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304575	Map3k3	mitogen activated protein kinase kinase kinase 3	gene	DOID:9009272	Cerebral Cavernous Malformation 5		ISO	RGD:1312092	D	RGD:7240710	20250108	OMIM			
1304575	Map3k3	mitogen activated protein kinase kinase kinase 3	gene	DOID:9009272	Cerebral Cavernous Malformation 5		ISO	RGD:1312092	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CEREBRAL CAVERNOUS MALFORMATIONS 5, SOMATIC | ClinVar Annotator: match by term: Cerebral cavernous malformations 5 | ClinVar Annotator: match by term: Verrucous venous malformation	PMID:25741868
1304575	Map3k3	mitogen activated protein kinase kinase kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304576	Vps37b	VPS37B subunit of ESCRT-I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304576	Vps37b	VPS37B subunit of ESCRT-I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304577	Zfp13	zinc finger protein 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304577	Zfp13	zinc finger protein 13	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1312095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1304577	Zfp13	zinc finger protein 13	gene	DOID:1909	melanoma		ISO	RGD:1312095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304577	Zfp13	zinc finger protein 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304577	Zfp13	zinc finger protein 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304579	Trim5	tripartite motif-containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304579	Trim5	tripartite motif-containing 5	gene	DOID:10283	prostate cancer		ISO	RGD:1343210	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1304579	Trim5	tripartite motif-containing 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304579	Trim5	tripartite motif-containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1343210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304579	Trim5	tripartite motif-containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1343210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304579	Trim5	tripartite motif-containing 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304579	Trim5	tripartite motif-containing 5	gene	DOID:3275	thymoma		ISO	RGD:1343210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304579	Trim5	tripartite motif-containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1343210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304579	Trim5	tripartite motif-containing 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304579	Trim5	tripartite motif-containing 5	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1343210	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:15249687
1304579	Trim5	tripartite motif-containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304579	Trim5	tripartite motif-containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304579	Trim5	tripartite motif-containing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1602427	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness	PMID:23348741|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28958982
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:0110524	autosomal recessive nonsyndromic deafness 76		ISO	RGD:1602427	D	RGD:7240710	20170405	OMIM			
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:0110524	autosomal recessive nonsyndromic deafness 76		ISO	RGD:1602427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 76 | ClinVar Annotator: match by term: Deafness, autosomal recessive 76 | ClinVar Annotator: match by term: SYNE4-related condition | ClinVar Annotator: match by term: SYNE4-related hearing loss	PMID:23348741|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28958982|PMID:33111345
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1602427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:11830	myopia		ISO	RGD:1602427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1602427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:1596	depressive disorder		ISO	RGD:1602427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:2030	anxiety disorder		ISO	RGD:1602427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:7998	hyperthyroidism		ISO	RGD:1602427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1602427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1602427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:9003507	Premature Birth		ISO	RGD:1602427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1602427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304580	Syne4	spectrin repeat containing nuclear envelope family member 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1602427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1304581	Hebp1	heme binding protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1312101	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1304582	Mtm1	myotubularin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:10063835|PMID:16199547|PMID:27353517|PMID:28492532|PMID:9305655
1304582	Mtm1	myotubularin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304582	Mtm1	myotubularin 1	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1304582	Mtm1	myotubularin 1	gene	DOID:0111217	autosomal dominant centronuclear myopathy		ISO	RGD:1312103	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy	PMID:25741868|PMID:28492532
1304582	Mtm1	myotubularin 1	gene	DOID:0111225	centronuclear myopathy X-linked		ISO	RGD:1312103	D	RGD:7240710	20241120	OMIM			
1304582	Mtm1	myotubularin 1	gene	DOID:0111225	centronuclear myopathy X-linked		ISO	RGD:1312103	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, X-LINKED | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, X-LINKED | ClinVar Annotator: match by term: Myotubular myopathy, X-linked | ClinVar Annotator: match by term: Severe X-linked myotubular myopathy	PMID:10063835|PMID:10449925|PMID:10502779|PMID:10790201|PMID:10900271|PMID:11793470|PMID:12031625|PMID:12118066|PMID:12522554|PMID:12646134|PMID:12859411|PMID:15725586|PMID:15811014|PMID:15883335|PMID:16199547|PMID:17005396|PMID:17537630|PMID:17576681|PMID:17973976|PMID:18358876|PMID:18414213|PMID:19084976|PMID:19763152|PMID:20301605|PMID:20307669|PMID:20358311|PMID:20434914|PMID:20500434|PMID:21135508|PMID:22068590|PMID:22101172|PMID:22406018|PMID:22435031|PMID:22968135|PMID:22968136|PMID:23071445|PMID:23346162|PMID:23917616|PMID:25214167|PMID:25640679|PMID:25741868|PMID:25957634|PMID:26338224|PMID:26467025|PMID:26898940|PMID:27017278|PMID:27363342|PMID:28492532|PMID:28685322|PMID:29172004|PMID:29567349|PMID:30149909|PMID:30232666|PMID:30241883|PMID:30902907|PMID:31541013|PMID:33062893|PMID:33164942|PMID:34011573|PMID:34134972|PMID:34440373|PMID:34463354|PMID:37101954|PMID:37176116|PMID:38544359|PMID:8640223|PMID:9199578|PMID:9285787|PMID:9305655|PMID:9450905|PMID:9536098|PMID:9829274|PMID:9851444|PMID:9858861
1304582	Mtm1	myotubularin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304582	Mtm1	myotubularin 1	gene	DOID:1115	sarcoma		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304582	Mtm1	myotubularin 1	gene	DOID:1324	lung cancer		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304582	Mtm1	myotubularin 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1312103	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:10063835|PMID:18414213|PMID:25741868|PMID:28492532|PMID:30241883|PMID:9285787|PMID:9305655
1304582	Mtm1	myotubularin 1	gene	DOID:14717	centronuclear myopathy		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Centronuclear myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1 | ClinVar Annotator: match by term: Myotubular myopathy	PMID:10063835|PMID:10502779|PMID:10790201|PMID:10900271|PMID:11793470|PMID:12118066|PMID:15725586|PMID:15811014|PMID:17005396|PMID:18414213|PMID:19084976|PMID:20358311|PMID:20434914|PMID:22068590|PMID:25741868|PMID:25957634|PMID:28492532|PMID:28685322|PMID:30149909|PMID:30241883|PMID:33164942|PMID:34011573|PMID:34440373|PMID:34463354|PMID:37101954|PMID:37176116|PMID:8640223|PMID:9285787|PMID:9305655|PMID:9450905|PMID:9829274
1304582	Mtm1	myotubularin 1	gene	DOID:14717	centronuclear myopathy		ISS	RGD:1312104	D	RGD:13592920	20180726	MouseDO		OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959	
1304582	Mtm1	myotubularin 1	gene	DOID:1909	melanoma		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304582	Mtm1	myotubularin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304582	Mtm1	myotubularin 1	gene	DOID:318	progressive muscular atrophy		ISO	RGD:1312103	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive spinal muscular atrophy	PMID:10063835|PMID:18414213|PMID:25741868|PMID:28492532|PMID:30241883|PMID:9285787|PMID:9305655
1304582	Mtm1	myotubularin 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1312103	D	RGD:11554173	20180724	CTD		CTD Direct Evidence: marker/mechanism	PMID:17376685
1304582	Mtm1	myotubularin 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1312103	D	RGD:1600519|PMID:8640223	20070312	RGD		myotubular myopathy, OMIM:310400, DNA:point mutation:exon:p.N207S (human)	
1304582	Mtm1	myotubularin 1	gene	DOID:423	myopathy		ISO	RGD:1312103	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:32581362
1304582	Mtm1	myotubularin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312103	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304582	Mtm1	myotubularin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304582	Mtm1	myotubularin 1	gene	DOID:630	genetic disease		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1304582	Mtm1	myotubularin 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:10063835|PMID:10502779|PMID:10714588|PMID:10900271|PMID:11793470|PMID:12031625|PMID:12118066|PMID:17537630|PMID:18414213|PMID:2352255|PMID:25741868|PMID:28492532|PMID:28685322|PMID:8640223
1304582	Mtm1	myotubularin 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312103	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1304582	Mtm1	myotubularin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532|PMID:37101954
1304582	Mtm1	myotubularin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304582	Mtm1	myotubularin 1	gene	DOID:936	brain disease		ISO	RGD:1312103	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:10063835|PMID:18414213|PMID:25741868|PMID:28492532|PMID:30241883|PMID:9285787|PMID:9305655
1304583	Ago4	argonaute RISC component 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304583	Ago4	argonaute RISC component 4	gene	DOID:11193	syndactyly		ISO	RGD:1312105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:25741868
1304583	Ago4	argonaute RISC component 4	gene	DOID:13620	patent foramen ovale		ISO	RGD:1312105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1304583	Ago4	argonaute RISC component 4	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1312105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1304583	Ago4	argonaute RISC component 4	gene	DOID:1826	epilepsy		ISO	RGD:1312105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1304583	Ago4	argonaute RISC component 4	gene	DOID:1909	melanoma		ISO	RGD:1312105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304583	Ago4	argonaute RISC component 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1312105	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304583	Ago4	argonaute RISC component 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304583	Ago4	argonaute RISC component 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304583	Ago4	argonaute RISC component 4	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1312105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25741868
1304583	Ago4	argonaute RISC component 4	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:1312105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	PMID:25741868
1304583	Ago4	argonaute RISC component 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304583	Ago4	argonaute RISC component 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304583	Ago4	argonaute RISC component 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304583	Ago4	argonaute RISC component 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304584	Fbxo28	F-box protein 28	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304584	Fbxo28	F-box protein 28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304584	Fbxo28	F-box protein 28	gene	DOID:0060058	lymphoma		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304584	Fbxo28	F-box protein 28	gene	DOID:0070386	developmental and epileptic encephalopathy 100		ISO	RGD:1312107	D	RGD:7240710	20220316	OMIM			
1304584	Fbxo28	F-box protein 28	gene	DOID:0070386	developmental and epileptic encephalopathy 100		ISO	RGD:1312107	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 100	PMID:25356899|PMID:25741868|PMID:33280099
1304584	Fbxo28	F-box protein 28	gene	DOID:1826	epilepsy		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1304584	Fbxo28	F-box protein 28	gene	DOID:2394	ovarian cancer		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304584	Fbxo28	F-box protein 28	gene	DOID:3275	thymoma		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304584	Fbxo28	F-box protein 28	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304584	Fbxo28	F-box protein 28	gene	DOID:4362	cervical cancer		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304584	Fbxo28	F-box protein 28	gene	DOID:5041	esophageal cancer		ISO	RGD:1312107	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304584	Fbxo28	F-box protein 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304584	Fbxo28	F-box protein 28	gene	DOID:630	genetic disease		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1304584	Fbxo28	F-box protein 28	gene	DOID:8927	learning disability		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
1304584	Fbxo28	F-box protein 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304584	Fbxo28	F-box protein 28	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of brain	
1304584	Fbxo28	F-box protein 28	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304584	Fbxo28	F-box protein 28	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1312107	D	RGD:8554872	20210413	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:28492532
1304585	Lysmd2	LysM domain containing 2	gene	DOID:0080600	COVID-19		ISO	RGD:1605838	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1304585	Lysmd2	LysM domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060058	lymphoma		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1312110	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:15756637|PMID:17508018|PMID:19262603|PMID:20849526|PMID:25741868|PMID:28492532
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:16007253|PMID:19262603|PMID:20672373|PMID:20849526|PMID:22992804|PMID:25741868|PMID:26740202|PMID:28492532|PMID:36262015|PMID:36980989
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060656	autosomal recessive congenital ichthyosis 1		ISO	RGD:1312110	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16675967
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060656	autosomal recessive congenital ichthyosis 1	susceptibility	ISO	RGD:1312110	D	RGD:1598548|PMID:12915478	20061203	RGD			
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060712	autosomal recessive congenital ichthyosis 4A		ISO	RGD:1312110	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060712	autosomal recessive congenital ichthyosis 4A		ISO	RGD:1312110	D	RGD:7240710	20130221	OMIM			
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060712	autosomal recessive congenital ichthyosis 4A		ISO	RGD:1312110	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABCA12-related condition | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A | ClinVar Annotator: match by term: ICHTHYOSIS CONGENITA IIB | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A | ClinVar Annotator: match by term: Ichthyosis congenita IIB	PMID:12915478|PMID:16007253|PMID:16199547|PMID:16902423|PMID:19664001|PMID:20672373|PMID:21729033|PMID:22257947|PMID:22992804|PMID:23528209|PMID:25741868|PMID:27025581|PMID:28295493|PMID:28492532|PMID:29722424|PMID:29880184|PMID:29887490|PMID:30600594|PMID:30916489|PMID:31168818|PMID:32707200|PMID:32851342|PMID:34908195|PMID:36980989
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060713	autosomal recessive congenital ichthyosis 4B		ISO	RGD:1312110	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060713	autosomal recessive congenital ichthyosis 4B		ISO	RGD:1312110	D	RGD:7240710	20130221	OMIM			
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060713	autosomal recessive congenital ichthyosis 4B		ISO	RGD:1312110	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B | ClinVar Annotator: match by term: Harlequin fetus | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B | ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 4B (harlequin) | ClinVar Annotator: match by term: autosomal recessive congenital ichthyosis 4B	PMID:16007253|PMID:16902423|PMID:19664001|PMID:20672373|PMID:22257947|PMID:25741868|PMID:28492532|PMID:29880184|PMID:31168818|PMID:36980989
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:0060713	autosomal recessive congenital ichthyosis 4B		ISS	RGD:1620735	D	RGD:13592920	20230718	MouseDO		OMIM:242500	
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:10534	stomach cancer		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:1570	ectropion		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectropion	PMID:19664001|PMID:20672373|PMID:25741868|PMID:28492532|PMID:29880184
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:1697	ichthyosis		ISO	RGD:1312110	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Ichthyosis | ClinVar Annotator: match by term: ichthyosis	PMID:25741868
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:1909	melanoma		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:3275	thymoma		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:4362	cervical cancer		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:630	genetic disease		ISO	RGD:1312110	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:9002395	Hypothermia		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothermia	PMID:19664001|PMID:20672373|PMID:25741868|PMID:28492532|PMID:29880184
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:9002801	Recurrence		ISO	RGD:1312110	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1312110	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1312110	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1304586	Abca12	ATP binding cassette subfamily A member 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304587	C10h1orf35	similar to human chromosome 1 open reading frame 35	gene	DOID:5041	esophageal cancer		ISO	RGD:1312112	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304587	C10h1orf35	similar to human chromosome 1 open reading frame 35	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304587	C10h1orf35	similar to human chromosome 1 open reading frame 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304587	C10h1orf35	similar to human chromosome 1 open reading frame 35	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304587	C10h1orf35	similar to human chromosome 1 open reading frame 35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304587	C10h1orf35	similar to human chromosome 1 open reading frame 35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304588	Lpin2	lipin 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1312114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelodysplasia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1304588	Lpin2	lipin 2	gene	DOID:0061224	Majeed syndrome		ISO	RGD:1312114	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304588	Lpin2	lipin 2	gene	DOID:0061224	Majeed syndrome		ISO	RGD:1312114	D	RGD:7240710	20130221	OMIM			
1304588	Lpin2	lipin 2	gene	DOID:0061224	Majeed syndrome		ISO	RGD:1312114	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS 1, WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA, WITH OR WITHOUT NEUTROPHILIC DERMATOSIS | ClinVar Annotator: match by term: MAJEED SYNDROME | ClinVar Annotator: match by term: Majeed syndrome	PMID:10969284|PMID:11795677|PMID:15994876|PMID:16199547|PMID:17330256|PMID:17576681|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:23087183|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26386126|PMID:27860302|PMID:2809904|PMID:28492532|PMID:28600779|PMID:29387759|PMID:31377798|PMID:31598604|PMID:31727123|PMID:32199921|PMID:33314777|PMID:33670882|PMID:9536098
1304588	Lpin2	lipin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304588	Lpin2	lipin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312114	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304588	Lpin2	lipin 2	gene	DOID:1115	sarcoma		ISO	RGD:1312114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304588	Lpin2	lipin 2	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:1312114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic-uremic syndrome	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1304588	Lpin2	lipin 2	gene	DOID:1588	thrombocytopenia		ISO	RGD:1312114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1304588	Lpin2	lipin 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1312114	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:10969284|PMID:15994876|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:24033266|PMID:25741868|PMID:26386126|PMID:26639818|PMID:27860302|PMID:2809904|PMID:28492532|PMID:33670882|PMID:9536098
1304588	Lpin2	lipin 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1312114	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10969284|PMID:15994876|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:23087183|PMID:24033266|PMID:25741868|PMID:26386126|PMID:27860302|PMID:2809904|PMID:28492532|PMID:33670882|PMID:9536098
1304588	Lpin2	lipin 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1312114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10969284|PMID:15994876|PMID:17576681|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:23087183|PMID:24033266|PMID:25741868|PMID:26764160|PMID:27860302|PMID:2809904|PMID:28492532|PMID:32199921|PMID:33670882|PMID:9536098
1304588	Lpin2	lipin 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1312114	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10969284|PMID:15994876|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:23087183|PMID:24033266|PMID:25741868|PMID:27860302|PMID:2809904|PMID:28492532|PMID:33670882|PMID:9536098
1304588	Lpin2	lipin 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1312114	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:10969284|PMID:15994876|PMID:17576681|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:23087183|PMID:24033266|PMID:25741868|PMID:27860302|PMID:2809904|PMID:28492532|PMID:32199921|PMID:33670882|PMID:9536098
1304588	Lpin2	lipin 2	gene	DOID:3070	high grade glioma		ISO	RGD:1312114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304588	Lpin2	lipin 2	gene	DOID:3275	thymoma		ISO	RGD:1312114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1304588	Lpin2	lipin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304588	Lpin2	lipin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1304588	Lpin2	lipin 2	gene	DOID:630	genetic disease		ISO	RGD:1312114	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1304588	Lpin2	lipin 2	gene	DOID:8893	psoriasis		ISO	RGD:1312114	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Psoriasis	PMID:25741868|PMID:28492532
1304588	Lpin2	lipin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304588	Lpin2	lipin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304589	Snapc2	small nuclear RNA activating complex, polypeptide 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312116	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304589	Snapc2	small nuclear RNA activating complex, polypeptide 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304589	Snapc2	small nuclear RNA activating complex, polypeptide 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304589	Snapc2	small nuclear RNA activating complex, polypeptide 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304589	Snapc2	small nuclear RNA activating complex, polypeptide 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304589	Snapc2	small nuclear RNA activating complex, polypeptide 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304590	Rap1gap2	RAP1 GTPase activating protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304590	Rap1gap2	RAP1 GTPase activating protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304590	Rap1gap2	RAP1 GTPase activating protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1346377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304590	Rap1gap2	RAP1 GTPase activating protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1346377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304590	Rap1gap2	RAP1 GTPase activating protein 2	gene	DOID:1909	melanoma		ISO	RGD:1346377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304590	Rap1gap2	RAP1 GTPase activating protein 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304590	Rap1gap2	RAP1 GTPase activating protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304590	Rap1gap2	RAP1 GTPase activating protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304590	Rap1gap2	RAP1 GTPase activating protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346377	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304590	Rap1gap2	RAP1 GTPase activating protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304590	Rap1gap2	RAP1 GTPase activating protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304590	Rap1gap2	RAP1 GTPase activating protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1304590	Rap1gap2	RAP1 GTPase activating protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304591	Art1	ADP-ribosyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304591	Art1	ADP-ribosyltransferase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1312119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1304592	C2cd5	C2 calcium-dependent domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:736134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304592	C2cd5	C2 calcium-dependent domain containing 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304592	C2cd5	C2 calcium-dependent domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304592	C2cd5	C2 calcium-dependent domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304592	C2cd5	C2 calcium-dependent domain containing 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304592	C2cd5	C2 calcium-dependent domain containing 5	gene	DOID:3275	thymoma		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304592	C2cd5	C2 calcium-dependent domain containing 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304592	C2cd5	C2 calcium-dependent domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304592	C2cd5	C2 calcium-dependent domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:736134	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304592	C2cd5	C2 calcium-dependent domain containing 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304592	C2cd5	C2 calcium-dependent domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304592	C2cd5	C2 calcium-dependent domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304592	C2cd5	C2 calcium-dependent domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304592	C2cd5	C2 calcium-dependent domain containing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304593	Ints3	integrator complex subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304593	Ints3	integrator complex subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304593	Ints3	integrator complex subunit 3	gene	DOID:10283	prostate cancer		ISO	RGD:1603299	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1304593	Ints3	integrator complex subunit 3	gene	DOID:10283	prostate cancer		ISO	RGD:1603299	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1304593	Ints3	integrator complex subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304593	Ints3	integrator complex subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304593	Ints3	integrator complex subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304593	Ints3	integrator complex subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304593	Ints3	integrator complex subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304593	Ints3	integrator complex subunit 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603299	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304593	Ints3	integrator complex subunit 3	gene	DOID:2661	myoepithelioma		ISO	RGD:1603299	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1304593	Ints3	integrator complex subunit 3	gene	DOID:3275	thymoma		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304593	Ints3	integrator complex subunit 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304593	Ints3	integrator complex subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304593	Ints3	integrator complex subunit 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304593	Ints3	integrator complex subunit 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304593	Ints3	integrator complex subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603299	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304593	Ints3	integrator complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304593	Ints3	integrator complex subunit 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1304593	Ints3	integrator complex subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304593	Ints3	integrator complex subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304593	Ints3	integrator complex subunit 3	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1304593	Ints3	integrator complex subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304593	Ints3	integrator complex subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304593	Ints3	integrator complex subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304593	Ints3	integrator complex subunit 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1603299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:0070259	congenital disorder of glycosylation type IIg		ISO	RGD:1312123	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:0070259	congenital disorder of glycosylation type IIg		ISO	RGD:1312123	D	RGD:7240710	20130221	OMIM			
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:0070259	congenital disorder of glycosylation type IIg		ISO	RGD:1312123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME | ClinVar Annotator: match by term: COG1-related condition | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg	PMID:19008299|PMID:23757202|PMID:25741868|PMID:27112773|PMID:28492532|PMID:29127259
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:10283	prostate cancer		ISO	RGD:1312123	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:10283	prostate cancer		ISO	RGD:1312123	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:10907	microcephaly		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:1115	sarcoma		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312123	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:630	genetic disease		ISO	RGD:1312123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:23757202|PMID:25741868|PMID:27112773|PMID:28492532|PMID:9536098
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:9006549	Enterovirus Infections		ISO	RGD:1312123	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28446605
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1304594	Cog1	component of oligomeric golgi complex 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304595	Tmem268	transmembrane protein 268	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304595	Tmem268	transmembrane protein 268	gene	DOID:4362	cervical cancer		ISO	RGD:1312125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304595	Tmem268	transmembrane protein 268	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304595	Tmem268	transmembrane protein 268	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304595	Tmem268	transmembrane protein 268	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304595	Tmem268	transmembrane protein 268	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304597	Ndufa7	NADH:ubiquinone oxidoreductase subunit A7	gene	DOID:1324	lung cancer		ISO	RGD:1312128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304597	Ndufa7	NADH:ubiquinone oxidoreductase subunit A7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304598	Abhd15	abhydrolase domain containing 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:0070428	combined oxidative phosphorylation deficiency 55		ISO	RGD:1312131	D	RGD:7240710	20220223	OMIM			
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:0070428	combined oxidative phosphorylation deficiency 55		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 55 | ClinVar Annotator: match by term: POLRMT-related condition	PMID:25741868|PMID:33602924|PMID:38256266|PMID:40583167
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:1312131	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA Depletion Syndrome 4A	PMID:25741868
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:2843	long QT syndrome		ISO	RGD:1312131	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:3070	high grade glioma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:5041	esophageal cancer		ISO	RGD:1312131	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:6039	uveal melanoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312131	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312131	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33602924
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304599	Polrmt	RNA polymerase mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304601	Amdhd2	amidohydrolase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304601	Amdhd2	amidohydrolase domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304601	Amdhd2	amidohydrolase domain containing 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1304601	Amdhd2	amidohydrolase domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304601	Amdhd2	amidohydrolase domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304602	Crtam	cytotoxic and regulatory T cell molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304602	Crtam	cytotoxic and regulatory T cell molecule	gene	DOID:1324	lung cancer		ISO	RGD:1606263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304602	Crtam	cytotoxic and regulatory T cell molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304602	Crtam	cytotoxic and regulatory T cell molecule	gene	DOID:3275	thymoma		ISO	RGD:1606263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304602	Crtam	cytotoxic and regulatory T cell molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1606263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304602	Crtam	cytotoxic and regulatory T cell molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1606263	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304602	Crtam	cytotoxic and regulatory T cell molecule	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304602	Crtam	cytotoxic and regulatory T cell molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606263	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304602	Crtam	cytotoxic and regulatory T cell molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304602	Crtam	cytotoxic and regulatory T cell molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1312137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:12858	Huntington's disease		ISO	RGD:1312138	D	RGD:6771173|PMID:20529956	20171003	RGD		mRNA:decreased expression:striatum	
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:12858	Huntington's disease	onset	ISO	RGD:1312137	D	RGD:6770890|PMID:21595933	20171003	RGD		DNA:SNPs: :rs6949152, rs7781972 (human)	
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1312137	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:22975021
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312137	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:9002669	Hypoxia	treatment	IEP		D	RGD:329955450|PMID:33310031	20230717	RGD		mRNA:decreased expression:left ventricle myocardium (rat)	
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:9003676	Brain Hypoxia-Ischemia		IEP		D	RGD:2302400|PMID:18723421	20081216	RGD		mRNA, protein:increase expression:cerebral cortex	
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:9006102	Right Ventricular Hypertrophy		IEP		D	RGD:2302404|PMID:17704287	20081217	RGD		mRNA:increased expression:hear right ventricle	
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:9007170	Bowen's Disease		ISO	RGD:1312137	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21514422
1304603	Nrf1	nuclear respiratory factor 1	gene	DOID:9970	obesity	treatment	IEP		D	RGD:329955450|PMID:33310031	20230717	RGD		mRNA:decreased expression:left ventricle myocardium (rat)	
1304604	Senp5	SUMO specific peptidase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304604	Senp5	SUMO specific peptidase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304604	Senp5	SUMO specific peptidase 5	gene	DOID:1115	sarcoma		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304604	Senp5	SUMO specific peptidase 5	gene	DOID:1324	lung cancer		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304604	Senp5	SUMO specific peptidase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304604	Senp5	SUMO specific peptidase 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304604	Senp5	SUMO specific peptidase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1312139	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304604	Senp5	SUMO specific peptidase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304604	Senp5	SUMO specific peptidase 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304604	Senp5	SUMO specific peptidase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304605	Slc22a22	solute carrier family 22 member 22	gene	DOID:10534	stomach cancer		ISO	RGD:1602951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304605	Slc22a22	solute carrier family 22 member 22	gene	DOID:3068	glioblastoma		ISO	RGD:1602951	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1304605	Slc22a22	solute carrier family 22 member 22	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1602951	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1304605	Slc22a22	solute carrier family 22 member 22	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304605	Slc22a22	solute carrier family 22 member 22	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602951	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560|PMID:30705370
1304605	Slc22a22	solute carrier family 22 member 22	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304605	Slc22a22	solute carrier family 22 member 22	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1602951	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1304605	Slc22a22	solute carrier family 22 member 22	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1602951	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1304606	Agr2	anterior gradient 2, protein disulphide isomerase family member	gene	DOID:10534	stomach cancer		ISO	RGD:1312142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304606	Agr2	anterior gradient 2, protein disulphide isomerase family member	gene	DOID:1324	lung cancer		ISO	RGD:1312142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304606	Agr2	anterior gradient 2, protein disulphide isomerase family member	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1312142	D	RGD:2325661|PMID:16598187	20100604	RGD			
1304606	Agr2	anterior gradient 2, protein disulphide isomerase family member	gene	DOID:3498	pancreatic ductal adenocarcinoma		ISO	RGD:1312142	D	RGD:2325658|PMID:19714807	20200713	RGD		protein:increased expression:pancreas	
1304606	Agr2	anterior gradient 2, protein disulphide isomerase family member	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1312142	D	RGD:2325659|PMID:19609859	20100604	RGD		mRNA:increased expression:pancreas	
1304606	Agr2	anterior gradient 2, protein disulphide isomerase family member	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312142	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881|PMID:25237833
1304606	Agr2	anterior gradient 2, protein disulphide isomerase family member	gene	DOID:9004078	Pancreatic Intraepithelial Neoplasia		ISO	RGD:1312142	D	RGD:2325658|PMID:19714807	20100604	RGD		protein:increased expression:pancreas	
1304606	Agr2	anterior gradient 2, protein disulphide isomerase family member	gene	DOID:9005186	RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA		ISO	RGD:1312142	D	RGD:7240710	20230517	OMIM			
1304606	Agr2	anterior gradient 2, protein disulphide isomerase family member	gene	DOID:9005186	RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA		ISO	RGD:1312142	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AGR2-related condition | ClinVar Annotator: match by term: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA | ClinVar Annotator: match by term: Respiratory infections, recurrent, and failure to thrive with or without diarrhea	PMID:25741868
1304606	Agr2	anterior gradient 2, protein disulphide isomerase family member	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1312142	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20531310
1304607	Tmem216	transmembrane protein 216	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304607	Tmem216	transmembrane protein 216	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1602714	D	RGD:11067331|PMID:20512146	20161111	RGD		DNA:missense mutation:exon:c.218G>T(p.R73L)(human)	
1304607	Tmem216	transmembrane protein 216	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1602714	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20036350|PMID:20307669|PMID:20512146|PMID:22282472|PMID:22406018|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:39191256|PMID:40191993|PMID:9536098
1304607	Tmem216	transmembrane protein 216	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304607	Tmem216	transmembrane protein 216	gene	DOID:0061109	retinitis pigmentosa 98		ISO	RGD:1602714	D	RGD:7240710	20241106	OMIM			
1304607	Tmem216	transmembrane protein 216	gene	DOID:0061109	retinitis pigmentosa 98		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 98 | ClinVar Annotator: match by term: Retinitis pigmentosa 98	PMID:25741868|PMID:28492532|PMID:39191256
1304607	Tmem216	transmembrane protein 216	gene	DOID:0070116	Meckel syndrome 2		ISO	RGD:1602714	D	RGD:11067331|PMID:20512146	20161111	RGD		DNA:missense,frameshift,nonsense mutations:cds,splice junction:	
1304607	Tmem216	transmembrane protein 216	gene	DOID:0070116	Meckel syndrome 2		ISO	RGD:1602714	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304607	Tmem216	transmembrane protein 216	gene	DOID:0070116	Meckel syndrome 2		ISO	RGD:1602714	D	RGD:7240710	20130221	OMIM			
1304607	Tmem216	transmembrane protein 216	gene	DOID:0070116	Meckel syndrome 2		ISO	RGD:1602714	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome type 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2	PMID:16199547|PMID:20512146|PMID:25741868|PMID:26467025|PMID:28492532
1304607	Tmem216	transmembrane protein 216	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602714	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20036350|PMID:20301500|PMID:20307669|PMID:20512146|PMID:22282472|PMID:22406018|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568|PMID:31964843|PMID:32483926|PMID:34448047|PMID:36788019|PMID:37486637|PMID:39191256|PMID:9536098
1304607	Tmem216	transmembrane protein 216	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:25741868|PMID:26467025|PMID:28492532
1304607	Tmem216	transmembrane protein 216	gene	DOID:0110988	Joubert Syndrome 2		ISO	RGD:1602714	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304607	Tmem216	transmembrane protein 216	gene	DOID:0110988	Joubert Syndrome 2		ISO	RGD:1602714	D	RGD:11561919|PMID:20036350	20161111	RGD		DNA:misense mutation:exon:c.35G>T(p.R12L)(human)	
1304607	Tmem216	transmembrane protein 216	gene	DOID:0110988	Joubert Syndrome 2		ISO	RGD:1602714	D	RGD:7240710	20130221	OMIM			
1304607	Tmem216	transmembrane protein 216	gene	DOID:0110988	Joubert Syndrome 2		ISO	RGD:1602714	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: JOUBERT SYNDROME 2 | ClinVar Annotator: match by term: Joubert syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome type 2	PMID:16199547|PMID:20036350|PMID:20512146|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532
1304607	Tmem216	transmembrane protein 216	gene	DOID:10534	stomach cancer		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304607	Tmem216	transmembrane protein 216	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304607	Tmem216	transmembrane protein 216	gene	DOID:1115	sarcoma		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304607	Tmem216	transmembrane protein 216	gene	DOID:1324	lung cancer		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304607	Tmem216	transmembrane protein 216	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304607	Tmem216	transmembrane protein 216	gene	DOID:4362	cervical cancer		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304607	Tmem216	transmembrane protein 216	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304607	Tmem216	transmembrane protein 216	gene	DOID:5041	esophageal cancer		ISO	RGD:1602714	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304607	Tmem216	transmembrane protein 216	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304607	Tmem216	transmembrane protein 216	gene	DOID:630	genetic disease		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1304607	Tmem216	transmembrane protein 216	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304607	Tmem216	transmembrane protein 216	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304608	Tecrl	trans-2,3-enoyl-CoA reductase-like	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:1604717	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia	
1304608	Tecrl	trans-2,3-enoyl-CoA reductase-like	gene	DOID:0060677	catecholaminergic polymorphic ventricular tachycardia 3		ISO	RGD:1604717	D	RGD:7240710	20190315	OMIM			
1304608	Tecrl	trans-2,3-enoyl-CoA reductase-like	gene	DOID:0060677	catecholaminergic polymorphic ventricular tachycardia 3		ISO	RGD:1604717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 3 | ClinVar Annotator: match by term: TECRL-related condition | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3	PMID:17666061|PMID:25741868|PMID:27861123|PMID:28492532|PMID:30790670|PMID:32173957|PMID:33367594
1304609	Actr6	actin related protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304609	Actr6	actin related protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:1312146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304609	Actr6	actin related protein 6	gene	DOID:1324	lung cancer		ISO	RGD:1312146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304609	Actr6	actin related protein 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304609	Actr6	actin related protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1312146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304609	Actr6	actin related protein 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1312146	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304609	Actr6	actin related protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304609	Actr6	actin related protein 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304611	Zfp496	zinc finger protein 496	gene	DOID:1324	lung cancer		ISO	RGD:1312150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304611	Zfp496	zinc finger protein 496	gene	DOID:2394	ovarian cancer		ISO	RGD:1312150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304611	Zfp496	zinc finger protein 496	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304611	Zfp496	zinc finger protein 496	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304611	Zfp496	zinc finger protein 496	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorders	PMID:25741868
1304611	Zfp496	zinc finger protein 496	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:0060058	lymphoma		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312152	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:10763	hypertension		ISO	RGD:1312152	D	RGD:2314812|PMID:19421330	20091130	RGD			
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:3275	thymoma		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312152	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312152	D	RGD:8554872	20160719	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:26614431
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304612	Rasgrp3	RAS guanyl releasing protein 3	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1312152	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838193
1304613	Alpk1	alpha-kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304613	Alpk1	alpha-kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304613	Alpk1	alpha-kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304613	Alpk1	alpha-kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304613	Alpk1	alpha-kinase 1	gene	DOID:11664	nephrosclerosis		ISO	RGD:1351787	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27542954
1304613	Alpk1	alpha-kinase 1	gene	DOID:13189	gout		ISO	RGD:1351787	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27542954
1304613	Alpk1	alpha-kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1351787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304613	Alpk1	alpha-kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304613	Alpk1	alpha-kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304613	Alpk1	alpha-kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304613	Alpk1	alpha-kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304613	Alpk1	alpha-kinase 1	gene	DOID:630	genetic disease		ISO	RGD:1351787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1304613	Alpk1	alpha-kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304613	Alpk1	alpha-kinase 1	gene	DOID:9001981	Weight Loss		ISO	RGD:1351787	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27542954
1304613	Alpk1	alpha-kinase 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1351787	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27542954
1304613	Alpk1	alpha-kinase 1	gene	DOID:9005477	Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome		ISO	RGD:1351787	D	RGD:7240710	20201111	OMIM			
1304613	Alpk1	alpha-kinase 1	gene	DOID:9005477	Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome		ISO	RGD:1351787	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME | ClinVar Annotator: match by term: ROSAH syndrome | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | ClinVar Annotator: match by term: retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome	PMID:25741868|PMID:28492532|PMID:30967659|PMID:31053777|PMID:31939038|PMID:35868845
1304613	Alpk1	alpha-kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:28492532
1304613	Alpk1	alpha-kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304613	Alpk1	alpha-kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304613	Alpk1	alpha-kinase 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1351787	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27542954
1304614	Epha6	Eph receptor A6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304614	Epha6	Eph receptor A6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304614	Epha6	Eph receptor A6	gene	DOID:10534	stomach cancer		ISO	RGD:1605546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304614	Epha6	Eph receptor A6	gene	DOID:1324	lung cancer		ISO	RGD:1605546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304614	Epha6	Eph receptor A6	gene	DOID:1909	melanoma		ISO	RGD:1605546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304614	Epha6	Eph receptor A6	gene	DOID:3070	high grade glioma		ISO	RGD:1605546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304614	Epha6	Eph receptor A6	gene	DOID:3275	thymoma		ISO	RGD:1605546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304614	Epha6	Eph receptor A6	gene	DOID:4362	cervical cancer		ISO	RGD:1605546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304614	Epha6	Eph receptor A6	gene	DOID:5041	esophageal cancer		ISO	RGD:1605546	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304614	Epha6	Eph receptor A6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304615	Clybl	citramalyl-CoA lyase	gene	DOID:4362	cervical cancer		ISO	RGD:1312156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304616	Nop2	NOP2 nucleolar protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304616	Nop2	NOP2 nucleolar protein	gene	DOID:10534	stomach cancer		ISO	RGD:1312158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304616	Nop2	NOP2 nucleolar protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304616	Nop2	NOP2 nucleolar protein	gene	DOID:1909	melanoma		ISO	RGD:1312158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304616	Nop2	NOP2 nucleolar protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1312158	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304616	Nop2	NOP2 nucleolar protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304616	Nop2	NOP2 nucleolar protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304616	Nop2	NOP2 nucleolar protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304618	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304618	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:0112201	osteogenesis imperfecta type 21		ISO	RGD:1312161	D	RGD:7240710	20201223	OMIM			
1304618	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:0112201	osteogenesis imperfecta type 21		ISO	RGD:1312161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XXI | ClinVar Annotator: match by term: Osteogenesis imperfecta, type 21	PMID:25741868
1304618	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304618	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:1909	melanoma		ISO	RGD:1312161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304618	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312161	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304618	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304618	Kdelr2	KDEL endoplasmic reticulum protein retention receptor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304619	Ago1	argonaute RISC component 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1312163	D	RGD:401900681|PMID:25495208	20231115	RGD		DNA:SNP:intron:A>G(rs595961)(human)	
1304619	Ago1	argonaute RISC component 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304619	Ago1	argonaute RISC component 1	gene	DOID:1059	intellectual disability		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25356899|PMID:25741868|PMID:28492532|PMID:30213762|PMID:33057194|PMID:34930816
1304619	Ago1	argonaute RISC component 1	gene	DOID:11782	astigmatism		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1304619	Ago1	argonaute RISC component 1	gene	DOID:1324	lung cancer		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304619	Ago1	argonaute RISC component 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1304619	Ago1	argonaute RISC component 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
1304619	Ago1	argonaute RISC component 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1312163	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
1304619	Ago1	argonaute RISC component 1	gene	DOID:1826	epilepsy		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868
1304619	Ago1	argonaute RISC component 1	gene	DOID:1909	melanoma		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304619	Ago1	argonaute RISC component 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304619	Ago1	argonaute RISC component 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304619	Ago1	argonaute RISC component 1	gene	DOID:3275	thymoma		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304619	Ago1	argonaute RISC component 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312163	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304619	Ago1	argonaute RISC component 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304619	Ago1	argonaute RISC component 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304619	Ago1	argonaute RISC component 1	gene	DOID:630	genetic disease		ISO	RGD:1312163	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23809764|PMID:25356899|PMID:25741868|PMID:30213762|PMID:34930816
1304619	Ago1	argonaute RISC component 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:30213762
1304619	Ago1	argonaute RISC component 1	gene	DOID:9006049	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES		ISO	RGD:1312163	D	RGD:7240710	20230505	OMIM			
1304619	Ago1	argonaute RISC component 1	gene	DOID:9006049	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES		ISO	RGD:1312163	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AGO1-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	PMID:25356899|PMID:25741868|PMID:28492532|PMID:30213762|PMID:33057194|PMID:34930816
1304619	Ago1	argonaute RISC component 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304619	Ago1	argonaute RISC component 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1312163	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1304619	Ago1	argonaute RISC component 1	gene	DOID:9007845	Encopresis		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encopresis	PMID:25741868
1304619	Ago1	argonaute RISC component 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1304619	Ago1	argonaute RISC component 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304619	Ago1	argonaute RISC component 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304619	Ago1	argonaute RISC component 1	gene	DOID:9840	esotropia		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
1304619	Ago1	argonaute RISC component 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1312163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:10534	stomach cancer		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:1909	melanoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:3275	thymoma		ISO	RGD:1347519	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:4362	cervical cancer		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347519	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304620	Rabgap1l	RAB GTPase activating protein 1-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:0060058	lymphoma		ISO	RGD:1353651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:10534	stomach cancer		ISO	RGD:1353651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:1115	sarcoma		ISO	RGD:1353651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:3275	thymoma		ISO	RGD:1353651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:4362	cervical cancer		ISO	RGD:1353651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1353651	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1353651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304621	Urb1	URB1 ribosome biogenesis factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1353651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304622	Kiaa1614	KIAA1614 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1605647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304622	Kiaa1614	KIAA1614 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304622	Kiaa1614	KIAA1614 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304622	Kiaa1614	KIAA1614 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304622	Kiaa1614	KIAA1614 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304623	Cgnl1	cingulin-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304623	Cgnl1	cingulin-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353387	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304623	Cgnl1	cingulin-like 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1353387	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1304623	Cgnl1	cingulin-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304623	Cgnl1	cingulin-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304623	Cgnl1	cingulin-like 1	gene	DOID:1909	melanoma		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304623	Cgnl1	cingulin-like 1	gene	DOID:3275	thymoma		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304623	Cgnl1	cingulin-like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304623	Cgnl1	cingulin-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304623	Cgnl1	cingulin-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304623	Cgnl1	cingulin-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304623	Cgnl1	cingulin-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:0060058	lymphoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:0080600	COVID-19		ISO	RGD:1312170	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1312170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:1115	sarcoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:1324	lung cancer		ISO	RGD:1312170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:1909	melanoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:3275	thymoma		ISO	RGD:1312170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:4362	cervical cancer		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1312170	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:9003566	Mesothelioma		ISO	RGD:1312170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1304625	Map3k6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304626	Ccser2	coiled-coil serine-rich protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304626	Ccser2	coiled-coil serine-rich protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304626	Ccser2	coiled-coil serine-rich protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304626	Ccser2	coiled-coil serine-rich protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304626	Ccser2	coiled-coil serine-rich protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1312172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304626	Ccser2	coiled-coil serine-rich protein 2	gene	DOID:1909	melanoma		ISO	RGD:1312172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304626	Ccser2	coiled-coil serine-rich protein 2	gene	DOID:3275	thymoma		ISO	RGD:1312172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304626	Ccser2	coiled-coil serine-rich protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304626	Ccser2	coiled-coil serine-rich protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304626	Ccser2	coiled-coil serine-rich protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304626	Ccser2	coiled-coil serine-rich protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304627	Chat	choline O-acetyltransferase	gene	DOID:0050152	aspiration pneumonia		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aspiration pneumonia	PMID:12548525|PMID:15701560|PMID:25741868|PMID:28492532
1304627	Chat	choline O-acetyltransferase	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	PMID:25741868
1304627	Chat	choline O-acetyltransferase	gene	DOID:0050741	alcohol dependence		ISO	RGD:1549990	D	RGD:401976285|PMID:8436061	20240219	RGD		protein:decreased expression:hippocampus,septum,striatum	
1304627	Chat	choline O-acetyltransferase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312173	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1304627	Chat	choline O-acetyltransferase	gene	DOID:0110671	congenital myasthenic syndrome 6		ISO	RGD:1312173	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304627	Chat	choline O-acetyltransferase	gene	DOID:0110671	congenital myasthenic syndrome 6		ISO	RGD:1312173	D	RGD:7240710	20130221	OMIM			
1304627	Chat	choline O-acetyltransferase	gene	DOID:0110671	congenital myasthenic syndrome 6		ISO	RGD:1312173	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CHAT-related condition | ClinVar Annotator: match by term: Congenital myasthenic syndrome 6 | ClinVar Annotator: match by term: Familial infantile myasthenia | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 6, presynaptic	PMID:11172068|PMID:12548525|PMID:12609506|PMID:15701560|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19520274|PMID:19900826|PMID:21786365|PMID:21948486|PMID:22678886|PMID:23292760|PMID:24033266|PMID:25741868|PMID:26080897|PMID:26467025|PMID:26789281|PMID:28464723|PMID:28492532|PMID:28497657|PMID:29054425|PMID:29189923|PMID:31192527|PMID:32070632|PMID:33820833|PMID:34431804|PMID:34740919|PMID:35253369|PMID:36308527|PMID:38304750|PMID:38833907|PMID:39036811|PMID:39086444|PMID:9536098
1304627	Chat	choline O-acetyltransferase	gene	DOID:0110671	congenital myasthenic syndrome 6		ISS	RGD:1549990	D	RGD:13592920	20230718	MouseDO		OMIM:254210	
1304627	Chat	choline O-acetyltransferase	gene	DOID:0110671	congenital myasthenic syndrome 6	susceptibility	ISO	RGD:1312173	D	RGD:1600831|PMID:11172068	20070328	RGD		DNA:frameshift mutation, missense mutations (human)	
1304627	Chat	choline O-acetyltransferase	gene	DOID:0110679	congenital myasthenic syndrome 4C		ISO	RGD:1312173	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C	PMID:12548525|PMID:21786365|PMID:23292760|PMID:25741868|PMID:28492532
1304627	Chat	choline O-acetyltransferase	gene	DOID:10652	Alzheimer's disease		IEP		D	RGD:1600851|PMID:16834974	20070328	RGD			
1304627	Chat	choline O-acetyltransferase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1312173	D	RGD:1358495|PMID:12401548	20151215	RGD		DNA:polymorphism:CDS:4G>A (human)	
1304627	Chat	choline O-acetyltransferase	gene	DOID:1148	polydactyly		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868
1304627	Chat	choline O-acetyltransferase	gene	DOID:11832	visual epilepsy		ISO	RGD:1312173	D	RGD:11554173	20260106	CTD		CTD Direct Evidence: marker/mechanism	PMID:19941057
1304627	Chat	choline O-acetyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1304627	Chat	choline O-acetyltransferase	gene	DOID:12858	Huntington's disease		ISO	RGD:1549990	D	RGD:5686805|PMID:16987871	20120126	RGD		mRNA:decreased expression:cerebral cortex	
1304627	Chat	choline O-acetyltransferase	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:1312173	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27064256
1304627	Chat	choline O-acetyltransferase	gene	DOID:1596	depressive disorder		IEP		D	RGD:151347550|PMID:28420875	20220126	RGD		mRNA:decreased expression:habenula:	
1304627	Chat	choline O-acetyltransferase	gene	DOID:1596	depressive disorder		IMP		D	RGD:151347550|PMID:28420875	20220126	RGD			
1304627	Chat	choline O-acetyltransferase	gene	DOID:2841	asthma		IEP		D	RGD:5686690|PMID:17328924	20070328	RGD		Protein:decreased expression:lung epithelium	
1304627	Chat	choline O-acetyltransferase	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1312173	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Synaptic congenital myasthenic syndrome	PMID:11172068|PMID:12548525|PMID:19520274|PMID:21786365|PMID:22678886|PMID:23292760|PMID:24033266|PMID:25741868|PMID:25741895|PMID:26080897|PMID:28492532|PMID:28497657|PMID:28991257|PMID:29189923|PMID:32368696|PMID:33820833
1304627	Chat	choline O-acetyltransferase	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1312173	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome	PMID:12548525|PMID:19520274|PMID:21786365|PMID:22678886|PMID:23292760|PMID:24033266|PMID:25741868|PMID:26080897|PMID:28492532|PMID:28497657|PMID:29189923|PMID:29783273|PMID:32420686|PMID:33650116|PMID:33820833|PMID:34028515|PMID:34431804|PMID:38304750|PMID:38696726|PMID:39036811|PMID:39086444
1304627	Chat	choline O-acetyltransferase	gene	DOID:423	myopathy		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
1304627	Chat	choline O-acetyltransferase	gene	DOID:5679	retinal disease		ISO	RGD:1312173	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23075401
1304627	Chat	choline O-acetyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1304627	Chat	choline O-acetyltransferase	gene	DOID:8488	polyhydramnios		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1304627	Chat	choline O-acetyltransferase	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
1304627	Chat	choline O-acetyltransferase	gene	DOID:9000197	Edema		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	PMID:25741868
1304627	Chat	choline O-acetyltransferase	gene	DOID:9000727	Syncope		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:28492532
1304627	Chat	choline O-acetyltransferase	gene	DOID:9001733	Tinnitus		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1304627	Chat	choline O-acetyltransferase	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1312173	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
1304627	Chat	choline O-acetyltransferase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:28492532
1304627	Chat	choline O-acetyltransferase	gene	DOID:9003539	Hyperacusis		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1304627	Chat	choline O-acetyltransferase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1312173	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23075401
1304627	Chat	choline O-acetyltransferase	gene	DOID:9005077	Joint Instability		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1304627	Chat	choline O-acetyltransferase	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:402463971|PMID:26282349	20240308	RGD		protein:decreased expression:telencephalon	
1304627	Chat	choline O-acetyltransferase	gene	DOID:9006302	Binge Drinking		IEP		D	RGD:597538603|PMID:37402853	20250131	RGD		mRNA:decreased expression:basal forebrain cholinergic neurons	
1304627	Chat	choline O-acetyltransferase	gene	DOID:9007736	Vertigo		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1304627	Chat	choline O-acetyltransferase	gene	DOID:936	brain disease		ISO	RGD:1312173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
1304628	Exog	exo/endonuclease G	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1312174	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:20129283|PMID:22789973|PMID:28492532
1304628	Exog	exo/endonuclease G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312174	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304628	Exog	exo/endonuclease G	gene	DOID:10534	stomach cancer		ISO	RGD:1312174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304628	Exog	exo/endonuclease G	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304628	Exog	exo/endonuclease G	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304628	Exog	exo/endonuclease G	gene	DOID:5041	esophageal cancer		ISO	RGD:1312174	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304628	Exog	exo/endonuclease G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304628	Exog	exo/endonuclease G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304628	Exog	exo/endonuclease G	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304628	Exog	exo/endonuclease G	gene	DOID:9256	colorectal cancer		ISO	RGD:1312174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304629	Acer2	alkaline ceramidase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304629	Acer2	alkaline ceramidase 2	gene	DOID:1324	lung cancer		ISO	RGD:1312176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304629	Acer2	alkaline ceramidase 2	gene	DOID:3275	thymoma		ISO	RGD:1312176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304629	Acer2	alkaline ceramidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312176	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304629	Acer2	alkaline ceramidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304631	Zfp169	zinc finger protein 169	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304631	Zfp169	zinc finger protein 169	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304631	Zfp169	zinc finger protein 169	gene	DOID:9970	obesity		ISO	RGD:1312178	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:29273807
1304632	Socs6	suppressor of cytokine signaling 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304632	Socs6	suppressor of cytokine signaling 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304632	Socs6	suppressor of cytokine signaling 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304632	Socs6	suppressor of cytokine signaling 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:0061097	immunodeficiency 132B		ISO	RGD:1312182	D	RGD:7240710	20250226	OMIM			
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:0061097	immunodeficiency 132B		ISO	RGD:1312182	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 132B	PMID:28492532
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:0061101	immunodeficiency 132A		ISO	RGD:1312182	D	RGD:7240710	20250226	OMIM			
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:0061101	immunodeficiency 132A		ISO	RGD:1312182	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 | ClinVar Annotator: match by term: IMMUNODEFICIENCY 132A | ClinVar Annotator: match by term: TRAF3 haploinsufficiency | ClinVar Annotator: match by term: TRAF3 related condition | ClinVar Annotator: match by term: TRAF3-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:35960817|PMID:36004314|PMID:9536098
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:0080711	multisystem inflammatory syndrome in children		ISO	RGD:1312182	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children	PMID:28492532
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:12849	autistic disorder		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:1826	epilepsy		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:1909	melanoma		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:2030	anxiety disorder		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312182	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:9003870	Herpes Simplex Encephalitis		ISO	RGD:1312182	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:9005834	Ependymomas		ISO	RGD:1312182	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304633	Traf3	Tnf receptor-associated factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304634	Dph2	diphthamide biosynthesis 2	gene	DOID:0070478	diphthamide deficiency syndrome 2		ISO	RGD:1312184	D	RGD:7240710	20221123	OMIM			
1304634	Dph2	diphthamide biosynthesis 2	gene	DOID:0070478	diphthamide deficiency syndrome 2		ISO	RGD:1312184	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2	PMID:25741868|PMID:27421267|PMID:32576952
1304634	Dph2	diphthamide biosynthesis 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304634	Dph2	diphthamide biosynthesis 2	gene	DOID:1909	melanoma		ISO	RGD:1312184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304634	Dph2	diphthamide biosynthesis 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312184	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304634	Dph2	diphthamide biosynthesis 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304634	Dph2	diphthamide biosynthesis 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1304634	Dph2	diphthamide biosynthesis 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304634	Dph2	diphthamide biosynthesis 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304635	Atp6v1g3	ATPase H+ transporting V1 subunit G3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304636	Sema4a	semaphorin 4A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304636	Sema4a	semaphorin 4A	gene	DOID:0110357	retinitis pigmentosa 35		ISO	RGD:1312188	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1304636	Sema4a	semaphorin 4A	gene	DOID:0110357	retinitis pigmentosa 35		ISO	RGD:1312188	D	RGD:7240710	20130425	OMIM			
1304636	Sema4a	semaphorin 4A	gene	DOID:0110357	retinitis pigmentosa 35		ISO	RGD:1312188	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 35 | ClinVar Annotator: match by term: Retinitis pigmentosa 35	PMID:22956603|PMID:25741868|PMID:28492532
1304636	Sema4a	semaphorin 4A	gene	DOID:0111017	cone-rod dystrophy 10		ISO	RGD:1312188	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1304636	Sema4a	semaphorin 4A	gene	DOID:0111017	cone-rod dystrophy 10		ISO	RGD:1312188	D	RGD:7240710	20130221	OMIM			
1304636	Sema4a	semaphorin 4A	gene	DOID:0111017	cone-rod dystrophy 10		ISO	RGD:1312188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition	PMID:25741868|PMID:28492532
1304636	Sema4a	semaphorin 4A	gene	DOID:0111228	Sveinsson chorioretinal atrophy		ISO	RGD:1312188	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Sveinsson chorioretinal atrophy	PMID:25741868
1304636	Sema4a	semaphorin 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1312188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304636	Sema4a	semaphorin 4A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1312188	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199541|PMID:23360997|PMID:24033266|PMID:25307848|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28805479|PMID:32483926|PMID:32531858
1304636	Sema4a	semaphorin 4A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1312188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:28492532
1304636	Sema4a	semaphorin 4A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304636	Sema4a	semaphorin 4A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304636	Sema4a	semaphorin 4A	gene	DOID:2394	ovarian cancer		ISO	RGD:1312188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304636	Sema4a	semaphorin 4A	gene	DOID:4362	cervical cancer		ISO	RGD:1312188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304636	Sema4a	semaphorin 4A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304636	Sema4a	semaphorin 4A	gene	DOID:5723	optic atrophy		ISO	RGD:1312188	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:24265693|PMID:25741868|PMID:28492532
1304636	Sema4a	semaphorin 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304636	Sema4a	semaphorin 4A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304636	Sema4a	semaphorin 4A	gene	DOID:8501	fundus dystrophy		ISO	RGD:1312188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25307848|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30910914|PMID:32483926
1304636	Sema4a	semaphorin 4A	gene	DOID:9004271	Colonic Polyps		ISO	RGD:1312188	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Colon polyps	PMID:25637381|PMID:25741868|PMID:28492532
1304636	Sema4a	semaphorin 4A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304636	Sema4a	semaphorin 4A	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1312188	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:33290778
1304636	Sema4a	semaphorin 4A	gene	DOID:9256	colorectal cancer		ISO	RGD:1312188	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25637381|PMID:25741868|PMID:28492532
1304637	Lto1	LTO1 maturation factor of ABCE1	gene	DOID:1115	sarcoma		ISO	RGD:1312190	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304637	Lto1	LTO1 maturation factor of ABCE1	gene	DOID:1324	lung cancer		ISO	RGD:1312190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304637	Lto1	LTO1 maturation factor of ABCE1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304637	Lto1	LTO1 maturation factor of ABCE1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304638	Coq4	coenzyme Q4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304638	Coq4	coenzyme Q4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304638	Coq4	coenzyme Q4	gene	DOID:0050952	spastic ataxia		ISO	RGD:1312192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196
1304638	Coq4	coenzyme Q4	gene	DOID:0070244	primary coenzyme Q10 deficiency 7		ISO	RGD:1312192	D	RGD:7240710	20161109	OMIM			
1304638	Coq4	coenzyme Q4	gene	DOID:0070244	primary coenzyme Q10 deficiency 7		ISO	RGD:1312192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COENZYME Q10 DEFICIENCY, PRIMARY, 7 | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	PMID:16199547|PMID:17576681|PMID:23533218|PMID:23774949|PMID:25658047|PMID:25741868|PMID:26185144|PMID:27374853|PMID:28465093|PMID:28472853|PMID:28492532|PMID:28540186|PMID:29980630|PMID:31325447|PMID:31396399|PMID:31440721|PMID:31967322|PMID:32718099|PMID:32860008|PMID:33215859|PMID:33704555|PMID:34299348|PMID:34440436|PMID:34445196|PMID:34638552|PMID:34656997|PMID:34992632|PMID:35154243|PMID:35598585|PMID:36047608|PMID:39759098|PMID:9536098
1304638	Coq4	coenzyme Q4	gene	DOID:10534	stomach cancer		ISO	RGD:1312192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304638	Coq4	coenzyme Q4	gene	DOID:1059	intellectual disability		ISO	RGD:1312192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196
1304638	Coq4	coenzyme Q4	gene	DOID:10907	microcephaly		ISO	RGD:1312192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196
1304638	Coq4	coenzyme Q4	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1312192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196
1304638	Coq4	coenzyme Q4	gene	DOID:1324	lung cancer		ISO	RGD:1312192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304638	Coq4	coenzyme Q4	gene	DOID:1826	epilepsy		ISO	RGD:1312192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196
1304638	Coq4	coenzyme Q4	gene	DOID:4362	cervical cancer		ISO	RGD:1312192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304638	Coq4	coenzyme Q4	gene	DOID:5041	esophageal cancer		ISO	RGD:1312192	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304638	Coq4	coenzyme Q4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304638	Coq4	coenzyme Q4	gene	DOID:630	genetic disease		ISO	RGD:1312192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25658047|PMID:25741868|PMID:25954003|PMID:26185144|PMID:27618451|PMID:28490743|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196
1304638	Coq4	coenzyme Q4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196
1304638	Coq4	coenzyme Q4	gene	DOID:9006071	Spastic Ataxia 10, Autosomal Recessive		ISO	RGD:1312192	D	RGD:7240710	20240124	OMIM			
1304638	Coq4	coenzyme Q4	gene	DOID:9006071	Spastic Ataxia 10, Autosomal Recessive		ISO	RGD:1312192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive	PMID:16199547|PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:28540186|PMID:30659264|PMID:30847826|PMID:31325447|PMID:31396399|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196|PMID:34656997|PMID:34992632|PMID:35598585|PMID:38013626|PMID:39759098
1304638	Coq4	coenzyme Q4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196
1304638	Coq4	coenzyme Q4	gene	DOID:9008582	Developmental Disease		ISO	RGD:1312192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1304639	Lig4	DNA ligase 4	gene	DOID:0060021	DNA ligase IV deficiency		ISO	RGD:1312194	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304639	Lig4	DNA ligase 4	gene	DOID:0060021	DNA ligase IV deficiency		ISO	RGD:1312194	D	RGD:13204707|PMID:27063650	20170713	RGD		DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human)	
1304639	Lig4	DNA ligase 4	gene	DOID:0060021	DNA ligase IV deficiency		ISO	RGD:1312194	D	RGD:7240710	20130221	OMIM			
1304639	Lig4	DNA ligase 4	gene	DOID:0060021	DNA ligase IV deficiency		ISO	RGD:1312194	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4 SYNDROME | ClinVar Annotator: match by term: LIG4-Related Disorders | ClinVar Annotator: match by term: LIG4-related disorder | ClinVar Annotator: match by term: Lig4 syndrome	PMID:11779494|PMID:15333585|PMID:16088910|PMID:16358361|PMID:16358631|PMID:16585603|PMID:1779494|PMID:18845326|PMID:19418549|PMID:21664875|PMID:23337116|PMID:23372718|PMID:24027040|PMID:24033266|PMID:24123394|PMID:24759409|PMID:2489227|PMID:24892279|PMID:2523926|PMID:25239263|PMID:25741868|PMID:26151233|PMID:26608917|PMID:26762768|PMID:26774591|PMID:27063650|PMID:27577878|PMID:27612988|PMID:27855655|PMID:27893162|PMID:28039949|PMID:28492532|PMID:28866308|PMID:29146883|PMID:30607663|PMID:30719430|PMID:31589614|PMID:31604460|PMID:31696992|PMID:32534991|PMID:33225392|PMID:34630384|PMID:35482138|PMID:35503492|PMID:35592332|PMID:35665709|PMID:35776903|PMID:36324046|PMID:38165471|PMID:39039281|PMID:39052144|PMID:5333585|PMID:7063650
1304639	Lig4	DNA ligase 4	gene	DOID:0060021	DNA ligase IV deficiency		ISO	RGD:1312195	D	RGD:13204717|PMID:20133615	20170714	RGD		DNA:missense mutation: :p.R278H (mouse)	
1304639	Lig4	DNA ligase 4	gene	DOID:0060021	DNA ligase IV deficiency		ISO	RGD:1312195	D	RGD:8694074|PMID:19451691	20140723	RGD		DNA:missense mutation: :p.Y288C (mouse)	
1304639	Lig4	DNA ligase 4	gene	DOID:0060021	DNA ligase IV deficiency		ISS	RGD:1312195	D	RGD:13592920	20230718	MouseDO		OMIM:606593	
1304639	Lig4	DNA ligase 4	gene	DOID:0090012	severe combined immunodeficiency with sensitivity to ionizing radiation		ISO	RGD:1312194	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation | ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency	PMID:24033266|PMID:25741868|PMID:28492532
1304639	Lig4	DNA ligase 4	gene	DOID:10283	prostate cancer	treatment	ISO	RGD:1312194	D	RGD:13204720|PMID:16638864	20170714	RGD			
1304639	Lig4	DNA ligase 4	gene	DOID:10907	microcephaly		ISO	RGD:1312194	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|PMID:28866308
1304639	Lig4	DNA ligase 4	gene	DOID:10908	hydrocephalus		ISO	RGD:1312194	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aqueductal stenosis | ClinVar Annotator: match by term: Ventriculomegaly	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|PMID:28866308
1304639	Lig4	DNA ligase 4	gene	DOID:11476	osteoporosis		ISO	RGD:1312194	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532
1304639	Lig4	DNA ligase 4	gene	DOID:11830	myopia		ISO	RGD:1312194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532|PMID:34630384
1304639	Lig4	DNA ligase 4	gene	DOID:12450	pancytopenia		ISO	RGD:1312194	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532
1304639	Lig4	DNA ligase 4	gene	DOID:1459	hypothyroidism		ISO	RGD:1312194	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532
1304639	Lig4	DNA ligase 4	gene	DOID:1588	thrombocytopenia		ISO	RGD:1312194	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532
1304639	Lig4	DNA ligase 4	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:1312194	D	RGD:2317363|PMID:19147782	20100416	RGD		associated with Diabetes Mellitus;DNA:polymorphism: :54C>T (human)	
1304639	Lig4	DNA ligase 4	gene	DOID:2841	asthma		ISO	RGD:1312194	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|PMID:34630384
1304639	Lig4	DNA ligase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1312194	D	RGD:13204718|PMID:23663450	20170714	RGD		DNA:SNP: :rs1805388 (human)	
1304639	Lig4	DNA ligase 4	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1312194	D	RGD:8554872	20190409	ClinVar		ClinVar Annotator: match by term: Papillary thyroid carcinoma	PMID:25741868
1304639	Lig4	DNA ligase 4	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1312194	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532
1304639	Lig4	DNA ligase 4	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1312194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe Combined Immune Deficiency	PMID:28492532|PMID:34630384
1304639	Lig4	DNA ligase 4	gene	DOID:630	genetic disease		ISO	RGD:1312194	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24027040|PMID:24123394|PMID:24759409|PMID:24892279|PMID:2523926|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|PMID:28866308|PMID:29146883|PMID:31589614|PMID:35592332
1304639	Lig4	DNA ligase 4	gene	DOID:8927	learning disability		ISO	RGD:1312194	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532
1304639	Lig4	DNA ligase 4	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1312194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532|PMID:34630384
1304639	Lig4	DNA ligase 4	gene	DOID:9001733	Tinnitus		ISO	RGD:1312194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532|PMID:34630384
1304639	Lig4	DNA ligase 4	gene	DOID:9003539	Hyperacusis		ISO	RGD:1312194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532|PMID:34630384
1304639	Lig4	DNA ligase 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312194	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532
1304639	Lig4	DNA ligase 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1312194	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532
1304639	Lig4	DNA ligase 4	gene	DOID:9007736	Vertigo		ISO	RGD:1312194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532|PMID:34630384
1304639	Lig4	DNA ligase 4	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1312194	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|PMID:28866308
1304639	Lig4	DNA ligase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1304639	Lig4	DNA ligase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1312194	D	RGD:8694072|PMID:24282031	20140723	RGD		DNA, mRNA:hypermethylation, decreased expression	
1304639	Lig4	DNA ligase 4	gene	DOID:9409	diabetes insipidus		ISO	RGD:1312194	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532
1304639	Lig4	DNA ligase 4	gene	DOID:9452	steatotic liver disease		ISO	RGD:1312194	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532
1304639	Lig4	DNA ligase 4	gene	DOID:9538	multiple myeloma		ISO	RGD:1312194	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304639	Lig4	DNA ligase 4	gene	DOID:9538	multiple myeloma		ISO	RGD:1312194	D	RGD:1600305|PMID:12471202	20070306	RGD		DNA:polymorphisms	
1304639	Lig4	DNA ligase 4	gene	DOID:9538	multiple myeloma		ISO	RGD:1312194	D	RGD:7240710	20130221	OMIM			
1304639	Lig4	DNA ligase 4	gene	DOID:9538	multiple myeloma		ISO	RGD:1312194	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Plasma cell myeloma	PMID:11779494|PMID:15333585|PMID:16088910|PMID:24027040|PMID:24123394|PMID:24759409|PMID:24892279|PMID:2523926|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|PMID:28866308|PMID:29146883|PMID:31589614|PMID:35592332
1304639	Lig4	DNA ligase 4	gene	DOID:9834	hyperopia		ISO	RGD:1312194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532|PMID:34630384
1304640	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304640	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:1115	sarcoma		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304640	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:1909	melanoma		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304640	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:3070	high grade glioma		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304640	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304640	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304640	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304640	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1304640	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304640	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304640	Cpsf6	cleavage and polyadenylation specific factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:1324	lung cancer		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:1909	melanoma		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:3070	high grade glioma		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312198	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:9004657	Weight Gain		ISO	RGD:1312198	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1304641	Stim2	stromal interaction molecule 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304641	Stim2	stromal interaction molecule 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304642	Foxd2	forkhead box D2	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1312200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	
1304642	Foxd2	forkhead box D2	gene	DOID:1074	kidney failure		ISO	RGD:1312200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	
1304642	Foxd2	forkhead box D2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1312200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868
1304642	Foxd2	forkhead box D2	gene	DOID:576	proteinuria		ISO	RGD:1312200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	
1304642	Foxd2	forkhead box D2	gene	DOID:784	chronic kidney disease		ISO	RGD:1312200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	
1304643	Aste1	asteroid structure-specific endonuclease 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304643	Aste1	asteroid structure-specific endonuclease 1	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:1606299	D	RGD:9068941	20220721	RGD		DNA:mutations:cds: (human)	PMID:28218421|REF_RGD_ID:153297765
1304643	Aste1	asteroid structure-specific endonuclease 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:1606299	D	RGD:9068941	20220721	RGD		DNA:mutations:cds: (human)	PMID:28218421|REF_RGD_ID:153297765
1304643	Aste1	asteroid structure-specific endonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304643	Aste1	asteroid structure-specific endonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:0050694	Brown-Vialetto-Van Laere syndrome		ISO	RGD:1312203	D	RGD:11554173	20190326	CTD		CTD Direct Evidence: marker/mechanism	
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:0050694	Brown-Vialetto-Van Laere syndrome		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Brown-Vialetto-Van laere syndrome | ClinVar Annotator: match by term: PONTOBULBAR PALSY WITH DEAFNESS	PMID:20206331|PMID:21512156|PMID:23243084|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29961494|PMID:30553531|PMID:34395718|PMID:37116404
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1312203	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:28220687
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:0080632	Fazio-Londe disease		ISO	RGD:1312203	D	RGD:7240710	20200311	OMIM			
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:0080632	Fazio-Londe disease		ISO	RGD:1312203	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Childhood Progressive Bulbar Palsy | ClinVar Annotator: match by term: Progressive bulbar palsy of childhood	PMID:20206331|PMID:20920669|PMID:21110228|PMID:22273710|PMID:22718020|PMID:22824638|PMID:23243084|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:28492532|PMID:29053833|PMID:29950502|PMID:29961494|PMID:30553531|PMID:33189404|PMID:34662687
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:0080785	Brown-Vialetto-Van Laere syndrome 1		ISO	RGD:1312203	D	RGD:7240710	20190320	OMIM			
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:0080785	Brown-Vialetto-Van Laere syndrome 1		ISO	RGD:1312203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BROWN-VIALETTO-VAN LAERE SYNDROME 1 | ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 | ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1	PMID:16199547|PMID:17576681|PMID:2020633|PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22273710|PMID:22633641|PMID:22718020|PMID:22740598|PMID:22824638|PMID:23243084|PMID:23506902|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:26072523|PMID:26443808|PMID:27777325|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29950502|PMID:29961494|PMID:30553531|PMID:33087424|PMID:33189404|PMID:33325104|PMID:34395718|PMID:34662687|PMID:37116404|PMID:9536098
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:21512156|PMID:28492532|PMID:28856173
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:1555	urticaria		ISO	RGD:1312203	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Urticaria	PMID:25741868
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:231	motor neuron disease		ISO	RGD:1312203	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Madras motor neuron disease	PMID:25741868|PMID:28492532|PMID:32579787
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:2841	asthma		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:21512156|PMID:28492532|PMID:28856173
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:3275	thymoma		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1312203	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:20729853
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:630	genetic disease		ISO	RGD:1312203	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22824638|PMID:23506902|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:27777325|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29961494|PMID:33087424|PMID:34395718|PMID:34662687|PMID:37116404
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:681	progressive bulbar palsy		ISO	RGD:1312203	D	RGD:11554173	20200317	CTD		CTD Direct Evidence: marker/mechanism	
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:21512156|PMID:28492532|PMID:28856173
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:1312203	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vocal cord paresis	PMID:25741868
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:9001890	Auditory Neuropathy		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy	
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:21512156|PMID:28492532|PMID:28856173
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312203	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:21512156|PMID:28492532|PMID:28856173
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304644	Slc52a3	solute carrier family 52 member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21512156|PMID:28492532|PMID:28856173
1304646	Dis3	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304646	Dis3	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304646	Dis3	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	gene	DOID:0060476	Perlman syndrome		ISO	RGD:1312206	D	RGD:8554872	20181206	ClinVar		ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism	PMID:25741868
1304646	Dis3	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	gene	DOID:0080906	CNS neuroblastoma with FOXR2 activation		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cns neuroblastoma with FOXR2 activation	PMID:20531386|PMID:23917401|PMID:24705251|PMID:26046463|PMID:26193331|PMID:27993330|PMID:33147539|PMID:35617957
1304646	Dis3	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	gene	DOID:10534	stomach cancer		ISO	RGD:1312206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304646	Dis3	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	gene	DOID:1115	sarcoma		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304646	Dis3	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	gene	DOID:1324	lung cancer		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:30967618|PMID:36835493
1304646	Dis3	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:20531386|PMID:24150935|PMID:35101336
1304646	Dis3	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304646	Dis3	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	gene	DOID:4362	cervical cancer		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304646	Dis3	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304646	Dis3	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304646	Dis3	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:30967618|PMID:36835493
1304646	Dis3	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	gene	DOID:9538	multiple myeloma		ISO	RGD:1312206	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1304647	Snx6	sorting nexin 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304647	Snx6	sorting nexin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304647	Snx6	sorting nexin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304647	Snx6	sorting nexin 6	gene	DOID:1115	sarcoma		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304647	Snx6	sorting nexin 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304647	Snx6	sorting nexin 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304647	Snx6	sorting nexin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304647	Snx6	sorting nexin 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304647	Snx6	sorting nexin 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304648	Pskh1	protein serine kinase H1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304648	Pskh1	protein serine kinase H1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304648	Pskh1	protein serine kinase H1	gene	DOID:1909	melanoma		ISO	RGD:1312210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304648	Pskh1	protein serine kinase H1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304648	Pskh1	protein serine kinase H1	gene	DOID:9009191	Progressive Familial Intrahepatic Cholestasis 13		ISO	RGD:1312210	D	RGD:7240710	20241016	OMIM			
1304648	Pskh1	protein serine kinase H1	gene	DOID:9009191	Progressive Familial Intrahepatic Cholestasis 13		ISO	RGD:1312210	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 13 | ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 13	PMID:25741868
1304649	Cdc14a	cell division cycle 14A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1304649	Cdc14a	cell division cycle 14A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1304649	Cdc14a	cell division cycle 14A	gene	DOID:0060058	lymphoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304649	Cdc14a	cell division cycle 14A	gene	DOID:0110491	autosomal recessive nonsyndromic deafness 32		ISO	RGD:1312211	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:27259055|PMID:29293958
1304649	Cdc14a	cell division cycle 14A	gene	DOID:0110491	autosomal recessive nonsyndromic deafness 32		ISO	RGD:1312211	D	RGD:7240710	20190315	OMIM			
1304649	Cdc14a	cell division cycle 14A	gene	DOID:0110491	autosomal recessive nonsyndromic deafness 32		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CDC14A-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 32 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32	PMID:24033266|PMID:25741868|PMID:26467025|PMID:27259055|PMID:28492532|PMID:29293958|PMID:31850270
1304649	Cdc14a	cell division cycle 14A	gene	DOID:0110491	autosomal recessive nonsyndromic deafness 32		ISS	RGD:1312212	D	RGD:13592920	20230718	MouseDO		OMIM:608653	
1304649	Cdc14a	cell division cycle 14A	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312211	D	RGD:8554872	20191112	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1304649	Cdc14a	cell division cycle 14A	gene	DOID:10534	stomach cancer		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1304649	Cdc14a	cell division cycle 14A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304649	Cdc14a	cell division cycle 14A	gene	DOID:1115	sarcoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1304649	Cdc14a	cell division cycle 14A	gene	DOID:12336	male infertility		ISO	RGD:1312211	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29293958
1304649	Cdc14a	cell division cycle 14A	gene	DOID:1324	lung cancer		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1304649	Cdc14a	cell division cycle 14A	gene	DOID:14228	oligospermia		ISO	RGD:1312211	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29293958
1304649	Cdc14a	cell division cycle 14A	gene	DOID:1909	melanoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1304649	Cdc14a	cell division cycle 14A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1304649	Cdc14a	cell division cycle 14A	gene	DOID:3275	thymoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1304649	Cdc14a	cell division cycle 14A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304649	Cdc14a	cell division cycle 14A	gene	DOID:4362	cervical cancer		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304649	Cdc14a	cell division cycle 14A	gene	DOID:5041	esophageal cancer		ISO	RGD:1312211	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1304649	Cdc14a	cell division cycle 14A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1304649	Cdc14a	cell division cycle 14A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1304649	Cdc14a	cell division cycle 14A	gene	DOID:630	genetic disease		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1304649	Cdc14a	cell division cycle 14A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1304649	Cdc14a	cell division cycle 14A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1304649	Cdc14a	cell division cycle 14A	gene	DOID:9008681	Deafness		ISO	RGD:1312211	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29293958
1304649	Cdc14a	cell division cycle 14A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304649	Cdc14a	cell division cycle 14A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1304651	Ppp1r13b	protein phosphatase 1, regulatory subunit 13B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304651	Ppp1r13b	protein phosphatase 1, regulatory subunit 13B	gene	DOID:1909	melanoma		ISO	RGD:1312214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304651	Ppp1r13b	protein phosphatase 1, regulatory subunit 13B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304651	Ppp1r13b	protein phosphatase 1, regulatory subunit 13B	gene	DOID:4362	cervical cancer		ISO	RGD:1312214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304651	Ppp1r13b	protein phosphatase 1, regulatory subunit 13B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304651	Ppp1r13b	protein phosphatase 1, regulatory subunit 13B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304651	Ppp1r13b	protein phosphatase 1, regulatory subunit 13B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304651	Ppp1r13b	protein phosphatase 1, regulatory subunit 13B	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1312214	D	RGD:8554872	20151208	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
1304651	Ppp1r13b	protein phosphatase 1, regulatory subunit 13B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304653	Vma22	vacuolar ATPase assembly factor VMA22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304653	Vma22	vacuolar ATPase assembly factor VMA22	gene	DOID:0070267	congenital disorder of glycosylation type IIo		ISO	RGD:1603946	D	RGD:7240710	20190315	OMIM			
1304653	Vma22	vacuolar ATPase assembly factor VMA22	gene	DOID:0070267	congenital disorder of glycosylation type IIo		ISO	RGD:1603946	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: CCDC115-CDG | ClinVar Annotator: match by term: CCDC115-related condition | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	PMID:24033266|PMID:25741868|PMID:26833332|PMID:28492532|PMID:29759592|PMID:33413482
1304653	Vma22	vacuolar ATPase assembly factor VMA22	gene	DOID:0080561	congenital disorder of glycosylation Ii		ISO	RGD:1603946	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Congenital Disorders of Glycosylation type II | ClinVar Annotator: match by term: Congenital disorders of glycosylation type II	PMID:24033266|PMID:25741868|PMID:26833332|PMID:28492532|PMID:29759592|PMID:33413482
1304653	Vma22	vacuolar ATPase assembly factor VMA22	gene	DOID:0112135	severe congenital neutropenia 8		ISO	RGD:1603946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant	PMID:25741868
1304653	Vma22	vacuolar ATPase assembly factor VMA22	gene	DOID:10534	stomach cancer		ISO	RGD:1603946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304653	Vma22	vacuolar ATPase assembly factor VMA22	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304653	Vma22	vacuolar ATPase assembly factor VMA22	gene	DOID:5041	esophageal cancer		ISO	RGD:1603946	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304653	Vma22	vacuolar ATPase assembly factor VMA22	gene	DOID:630	genetic disease		ISO	RGD:1603946	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1304653	Vma22	vacuolar ATPase assembly factor VMA22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304655	Tmprss7	transmembrane serine protease 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312220	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304655	Tmprss7	transmembrane serine protease 7	gene	DOID:10534	stomach cancer		ISO	RGD:1312220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304655	Tmprss7	transmembrane serine protease 7	gene	DOID:1324	lung cancer		ISO	RGD:1312220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304655	Tmprss7	transmembrane serine protease 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1312220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304655	Tmprss7	transmembrane serine protease 7	gene	DOID:303	substance-related disorder		ISO	RGD:1312220	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1304655	Tmprss7	transmembrane serine protease 7	gene	DOID:3070	high grade glioma		ISO	RGD:1312220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304655	Tmprss7	transmembrane serine protease 7	gene	DOID:3275	thymoma		ISO	RGD:1312220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304655	Tmprss7	transmembrane serine protease 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1312220	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304655	Tmprss7	transmembrane serine protease 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304655	Tmprss7	transmembrane serine protease 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304657	Zdhhc6	zDHHC palmitoyltransferase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304657	Zdhhc6	zDHHC palmitoyltransferase 6	gene	DOID:1324	lung cancer		ISO	RGD:1312223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304657	Zdhhc6	zDHHC palmitoyltransferase 6	gene	DOID:1909	melanoma		ISO	RGD:1312223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304657	Zdhhc6	zDHHC palmitoyltransferase 6	gene	DOID:3275	thymoma		ISO	RGD:1312223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304657	Zdhhc6	zDHHC palmitoyltransferase 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1312223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304657	Zdhhc6	zDHHC palmitoyltransferase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304657	Zdhhc6	zDHHC palmitoyltransferase 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304657	Zdhhc6	zDHHC palmitoyltransferase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cobalamin deficiency	PMID:25741868
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:0060249	scoliosis		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:0111432	essential tremor 5		ISO	RGD:1312224	D	RGD:7240710	20190315	OMIM			
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:0111432	essential tremor 5		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: TENM4-related condition | ClinVar Annotator: match by term: TREMOR, HEREDITARY ESSENTIAL, 5 | ClinVar Annotator: match by term: Tremor, hereditary essential, 5	PMID:25741868|PMID:26188006|PMID:28492532
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:1909	melanoma		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:3312	bipolar disorder		ISO	RGD:1312224	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21926972
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:4990	essential tremor		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Essential tremor	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1312224	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:674	cleft palate		ISO	RGD:1312224	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:9001694	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	PMID:25741868
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304658	Tenm4	teneurin transmembrane protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:0080312	neurodevelopmental disorder with midbrain and hindbrain malformations		ISO	RGD:1312226	D	RGD:7240710	20190315	OMIM			
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:0080312	neurodevelopmental disorder with midbrain and hindbrain malformations		ISO	RGD:1312226	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARHGEF2-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with midbrain and hindbrain malformations	PMID:25741868|PMID:28492532
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:0080312	neurodevelopmental disorder with midbrain and hindbrain malformations		ISS	RGD:1312227	D	RGD:13592920	20230718	MouseDO		OMIM:617523	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:10907	microcephaly		ISO	RGD:1312226	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1312226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1312226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:1909	melanoma		ISO	RGD:1312226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:2661	myoepithelioma		ISO	RGD:1312226	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:3070	high grade glioma		ISO	RGD:1312226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:3275	thymoma		ISO	RGD:1312226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304659	Arhgef2	Rho/Rac guanine nucleotide exchange factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304660	Ccl27	C-C motif chemokine ligand 27	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1312228	D	RGD:30309209|PMID:32360286	20200618	RGD		protein:increased expression:plasma (human)	
1304660	Ccl27	C-C motif chemokine ligand 27	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1312228	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
1304660	Ccl27	C-C motif chemokine ligand 27	gene	DOID:2773	contact dermatitis		ISO	RGD:1312228	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1304660	Ccl27	C-C motif chemokine ligand 27	gene	DOID:2841	asthma		ISO	RGD:1312228	D	RGD:9068941	20200609	RGD			PMID:19541356|REF_RGD_ID:5130899
1304660	Ccl27	C-C motif chemokine ligand 27	gene	DOID:3310	atopic dermatitis		ISO	RGD:1312228	D	RGD:1626250|PMID:12642842	20070727	RGD			
1304661	Serpinb13	serpin family B member 13	gene	DOID:10283	prostate cancer		ISO	RGD:1312230	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1304661	Serpinb13	serpin family B member 13	gene	DOID:1324	lung cancer		ISO	RGD:1312230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304661	Serpinb13	serpin family B member 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304661	Serpinb13	serpin family B member 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304662	Pla2g12a	phospholipase A2, group XIIA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304662	Pla2g12a	phospholipase A2, group XIIA	gene	DOID:3275	thymoma		ISO	RGD:1312232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304662	Pla2g12a	phospholipase A2, group XIIA	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304662	Pla2g12a	phospholipase A2, group XIIA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304662	Pla2g12a	phospholipase A2, group XIIA	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312232	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1304662	Pla2g12a	phospholipase A2, group XIIA	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304662	Pla2g12a	phospholipase A2, group XIIA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304662	Pla2g12a	phospholipase A2, group XIIA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304664	Slc39a6	solute carrier family 39 member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1312236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304664	Slc39a6	solute carrier family 39 member 6	gene	DOID:1115	sarcoma		ISO	RGD:1312236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304664	Slc39a6	solute carrier family 39 member 6	gene	DOID:1324	lung cancer		ISO	RGD:1312236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304664	Slc39a6	solute carrier family 39 member 6	gene	DOID:1909	melanoma		ISO	RGD:1312236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304664	Slc39a6	solute carrier family 39 member 6	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1312236	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: therapeutic	PMID:23644492
1304664	Slc39a6	solute carrier family 39 member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1312236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304664	Slc39a6	solute carrier family 39 member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304664	Slc39a6	solute carrier family 39 member 6	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1312236	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12839489
1304664	Slc39a6	solute carrier family 39 member 6	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312236	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1304664	Slc39a6	solute carrier family 39 member 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304664	Slc39a6	solute carrier family 39 member 6	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1312236	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12839489
1304664	Slc39a6	solute carrier family 39 member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304667	Kcna10	potassium voltage-gated channel subfamily A member 10	gene	DOID:2843	long QT syndrome		ISO	RGD:1312242	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
1304667	Kcna10	potassium voltage-gated channel subfamily A member 10	gene	DOID:3426	vestibular disease		ISS	RGD:1621289	D	RGD:13592920	20180518	MouseDO			
1304668	Blmh	bleomycin hydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304668	Blmh	bleomycin hydrolase	gene	DOID:10534	stomach cancer		ISO	RGD:1312244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304668	Blmh	bleomycin hydrolase	gene	DOID:1909	melanoma		ISO	RGD:1312244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304668	Blmh	bleomycin hydrolase	gene	DOID:4362	cervical cancer		ISO	RGD:1312244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304668	Blmh	bleomycin hydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304668	Blmh	bleomycin hydrolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304668	Blmh	bleomycin hydrolase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304669	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304669	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304669	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304669	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304669	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304669	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1312246	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304669	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304669	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1312246	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16501603
1304669	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1304669	Ccndbp1	cyclin D1 binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304670	Cyb561a3	cytochrome b561 family, member A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304670	Cyb561a3	cytochrome b561 family, member A3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304671	Snapc1	small nuclear RNA activating complex, polypeptide 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304671	Snapc1	small nuclear RNA activating complex, polypeptide 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304671	Snapc1	small nuclear RNA activating complex, polypeptide 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304671	Snapc1	small nuclear RNA activating complex, polypeptide 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304671	Snapc1	small nuclear RNA activating complex, polypeptide 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312249	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304671	Snapc1	small nuclear RNA activating complex, polypeptide 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304671	Snapc1	small nuclear RNA activating complex, polypeptide 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304671	Snapc1	small nuclear RNA activating complex, polypeptide 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304675	Plch2	phospholipase C, eta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304675	Plch2	phospholipase C, eta 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304675	Plch2	phospholipase C, eta 2	gene	DOID:1115	sarcoma		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304675	Plch2	phospholipase C, eta 2	gene	DOID:1909	melanoma		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304675	Plch2	phospholipase C, eta 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304675	Plch2	phospholipase C, eta 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304675	Plch2	phospholipase C, eta 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304675	Plch2	phospholipase C, eta 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304675	Plch2	phospholipase C, eta 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346590	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304675	Plch2	phospholipase C, eta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304675	Plch2	phospholipase C, eta 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304675	Plch2	phospholipase C, eta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304675	Plch2	phospholipase C, eta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304676	Tollip	toll interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304676	Tollip	toll interacting protein	gene	DOID:0080600	COVID-19		ISO	RGD:1312257	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease COVID-19	
1304676	Tollip	toll interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1312257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304676	Tollip	toll interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1312257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304676	Tollip	toll interacting protein	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1312257	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease	
1304676	Tollip	toll interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1312257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304676	Tollip	toll interacting protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304676	Tollip	toll interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304676	Tollip	toll interacting protein	gene	DOID:9000575	Respiratory Signs and Symptoms		ISO	RGD:1312257	D	RGD:11554173	20251202	CTD		CTD Direct Evidence: marker/mechanism	PMID:39009092
1304676	Tollip	toll interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304677	Pank1	pantothenate kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304677	Pank1	pantothenate kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304677	Pank1	pantothenate kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304677	Pank1	pantothenate kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304677	Pank1	pantothenate kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304677	Pank1	pantothenate kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304677	Pank1	pantothenate kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304677	Pank1	pantothenate kinase 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1312259	D	RGD:11554173	20230905	CTD		CTD Direct Evidence: therapeutic	PMID:35589691
1304677	Pank1	pantothenate kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304678	Gdf1	growth differentiation factor 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1312261	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304678	Gdf1	growth differentiation factor 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1312261	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Visceral heterotaxy	PMID:17924340|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257
1304678	Gdf1	growth differentiation factor 1	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1312261	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17924340
1304678	Gdf1	growth differentiation factor 1	gene	DOID:0060772	multiple types of congenital heart defects 6		ISO	RGD:1312261	D	RGD:7240710	20140903	OMIM			
1304678	Gdf1	growth differentiation factor 1	gene	DOID:0060850	annular pancreas		ISS	RGD:1312262	D	RGD:13592920	20180518	MouseDO		OMIM:167750	
1304678	Gdf1	growth differentiation factor 1	gene	DOID:0060856	right atrial isomerism		ISO	RGD:1312261	D	RGD:7240710	20250205	OMIM			
1304678	Gdf1	growth differentiation factor 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1312261	D	RGD:11252017|PMID:24275554	20230413	RGD		mRNA,protein:increased expression:heart (human)	
1304678	Gdf1	growth differentiation factor 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1312261	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28991257
1304678	Gdf1	growth differentiation factor 1	gene	DOID:1682	congenital heart disease	susceptibility	ISO	RGD:1312261	D	RGD:11536909|PMID:26656983	20230412	RGD		DNA:SNPs:exon8: (rs4808863) (human)	
1304678	Gdf1	growth differentiation factor 1	gene	DOID:1682	congenital heart disease	susceptibility	ISO	RGD:1312261	D	RGD:243065149|PMID:23076529	20230412	RGD		DNA:SNPs,haplotypes: (rs7250622,rs4808867, rs4808870) (human)	
1304678	Gdf1	growth differentiation factor 1	gene	DOID:5082	liver cirrhosis	disease_progression	ISO	RGD:1312261	D	RGD:243065147|PMID:36268984	20230412	RGD		associated with Stable Angina; protein:decreased expression:blood plasma (human)	
1304678	Gdf1	growth differentiation factor 1	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1312261	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17924340
1304678	Gdf1	growth differentiation factor 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1312261	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17924340
1304678	Gdf1	growth differentiation factor 1	gene	DOID:9003936	Cardiomegaly	exacerbates	ISO	RGD:1312262	D	RGD:11252017|PMID:24275554	20230413	RGD			
1304678	Gdf1	growth differentiation factor 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1312261	D	RGD:11252030|PMID:25726944	20230405	RGD		protein:increased expression:Left ventricle (human)	
1304678	Gdf1	growth differentiation factor 1	gene	DOID:9007174	Ventricular Remodeling	ameliorates	ISO	RGD:1312262	D	RGD:11252030|PMID:25726944	20230405	RGD		associated with myocardial infarction	
1304679	Chordc1	cysteine and histidine rich domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304679	Chordc1	cysteine and histidine rich domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304679	Chordc1	cysteine and histidine rich domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1312263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304679	Chordc1	cysteine and histidine rich domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304679	Chordc1	cysteine and histidine rich domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1312263	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304679	Chordc1	cysteine and histidine rich domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304679	Chordc1	cysteine and histidine rich domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304679	Chordc1	cysteine and histidine rich domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312263	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304679	Chordc1	cysteine and histidine rich domain containing 1	gene	DOID:8552	chronic myeloid leukemia		ISS	RGD:1312264	D	RGD:13592920	20180518	MouseDO		OMIM:608232	
1304679	Chordc1	cysteine and histidine rich domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304679	Chordc1	cysteine and histidine rich domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304680	Epha1	Eph receptor A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304680	Epha1	Eph receptor A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304680	Epha1	Eph receptor A1	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1312265	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex	PMID:25741868
1304680	Epha1	Eph receptor A1	gene	DOID:10534	stomach cancer		ISO	RGD:1312265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304680	Epha1	Eph receptor A1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1312265	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21460840|PMID:21460841
1304680	Epha1	Eph receptor A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304680	Epha1	Eph receptor A1	gene	DOID:1115	sarcoma		ISO	RGD:1312265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304680	Epha1	Eph receptor A1	gene	DOID:1324	lung cancer		ISO	RGD:1312265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304680	Epha1	Eph receptor A1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304680	Epha1	Eph receptor A1	gene	DOID:4362	cervical cancer		ISO	RGD:1312265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304680	Epha1	Eph receptor A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312265	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304680	Epha1	Eph receptor A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304680	Epha1	Eph receptor A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304680	Epha1	Eph receptor A1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1312265	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19277044
1304680	Epha1	Eph receptor A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304680	Epha1	Eph receptor A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304681	Abhd11	abhydrolase domain containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304681	Abhd11	abhydrolase domain containing 11	gene	DOID:1324	lung cancer		ISO	RGD:1606493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304681	Abhd11	abhydrolase domain containing 11	gene	DOID:1909	melanoma		ISO	RGD:1606493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304681	Abhd11	abhydrolase domain containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1606493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304681	Abhd11	abhydrolase domain containing 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304681	Abhd11	abhydrolase domain containing 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606493	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304681	Abhd11	abhydrolase domain containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:0060249	scoliosis		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:28540413
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:0070309	absence epilepsy		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:0080918	polymicrogyria		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:0111145	ureteropelvic junction obstruction		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ureteropelvic junction obstruction	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:10534	stomach cancer		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:10908	hydrocephalus		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:11111	hydronephrosis		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:1115	sarcoma		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:11518	abnormal pupillary function		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal pupillary function	PMID:28540413
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1312269	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:12849	autistic disorder		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:1324	lung cancer		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:13934	facial paralysis		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial palsy	PMID:28540413
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:1826	epilepsy		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:1909	melanoma		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:3070	high grade glioma		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:3275	thymoma		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:4362	cervical cancer		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1312269	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:630	genetic disease		ISO	RGD:1312269	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29861105|PMID:34440880
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28540413
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:9000053	Headache		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:9000343	Vision Disorders		ISO	RGD:1312269	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Visual impairment	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:28540413
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:9007356	Eczema		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:9007907	Congenital Myopathy with Neuropathy and Deafness		ISO	RGD:1312269	D	RGD:7240710	20190315	OMIM			
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:9007907	Congenital Myopathy with Neuropathy and Deafness		ISO	RGD:1312269	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness | ClinVar Annotator: match by term: SPTBN4-related condition	PMID:25741868|PMID:28492532|PMID:28540413
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28540413
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304682	Sptbn4	spectrin, beta, non-erythrocytic 4	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1312269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1304683	Gnat1	G protein subunit alpha transducin 1	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1312271	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1304683	Gnat1	G protein subunit alpha transducin 1	gene	DOID:0110714	congenital stationary night blindness 1G		ISO	RGD:1312271	D	RGD:7240710	20170405	OMIM			
1304683	Gnat1	G protein subunit alpha transducin 1	gene	DOID:0110714	congenital stationary night blindness 1G		ISO	RGD:1312271	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness 1G | ClinVar Annotator: match by term: GNAT1-related condition | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G | ClinVar Annotator: match by term: Night blindness, congenital stationary, type 1g	PMID:11095744|PMID:17576681|PMID:25741868|PMID:26472407|PMID:27624628|PMID:28492532|PMID:31736247|PMID:9536098
1304683	Gnat1	G protein subunit alpha transducin 1	gene	DOID:0110715	congenital stationary night blindness autosomal dominant 3		ISO	RGD:1312271	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304683	Gnat1	G protein subunit alpha transducin 1	gene	DOID:0110715	congenital stationary night blindness autosomal dominant 3		ISO	RGD:1312271	D	RGD:7240710	20130221	OMIM			
1304683	Gnat1	G protein subunit alpha transducin 1	gene	DOID:0110715	congenital stationary night blindness autosomal dominant 3		ISO	RGD:1312271	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 3 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, NOUGARET TYPE	PMID:11095744|PMID:17584859|PMID:25741868|PMID:28492532|PMID:31736247
1304683	Gnat1	G protein subunit alpha transducin 1	gene	DOID:0110867	congenital stationary night blindness 1C		ISO	RGD:1312271	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness 1C	PMID:25741868
1304683	Gnat1	G protein subunit alpha transducin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1312271	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:28492532|PMID:30718709|PMID:34906470
1304683	Gnat1	G protein subunit alpha transducin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304683	Gnat1	G protein subunit alpha transducin 1	gene	DOID:630	genetic disease		ISO	RGD:1312271	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1304683	Gnat1	G protein subunit alpha transducin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304683	Gnat1	G protein subunit alpha transducin 1	gene	DOID:8499	night blindness		ISO	RGD:1312271	D	RGD:1599006|PMID:8673138	20070111	RGD			
1304683	Gnat1	G protein subunit alpha transducin 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1312271	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11095744|PMID:25741868|PMID:28492532|PMID:31736247|PMID:33946315|PMID:34064|PMID:34064005
1304683	Gnat1	G protein subunit alpha transducin 1	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:1600001|PMID:15939031	20081121	RGD		protein:decreased expression:retina	
1304684	Poglut2	protein O-glucosyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304684	Poglut2	protein O-glucosyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1312273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304684	Poglut2	protein O-glucosyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1312273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304684	Poglut2	protein O-glucosyltransferase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304684	Poglut2	protein O-glucosyltransferase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304684	Poglut2	protein O-glucosyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304684	Poglut2	protein O-glucosyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304684	Poglut2	protein O-glucosyltransferase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1312273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304685	Klhl8	kelch-like family member 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304685	Klhl8	kelch-like family member 8	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:1312275	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia	
1304685	Klhl8	kelch-like family member 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304685	Klhl8	kelch-like family member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304685	Klhl8	kelch-like family member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304685	Klhl8	kelch-like family member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304686	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304686	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304686	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1601944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304686	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:1909	melanoma		ISO	RGD:1601944	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1304686	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1601944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304686	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304686	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304686	Eif1ad	eukaryotic translation initiation factor 1A domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:0060249	scoliosis		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:0081232	autosomal recessive intellectual developmental disorder 71		ISO	RGD:1602194	D	RGD:7240710	20190911	OMIM			
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:0081232	autosomal recessive intellectual developmental disorder 71		ISO	RGD:1602194	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALKBH8-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 71 | ClinVar Annotator: match by term: intellectual developmental disorder, autosomal recessive 71	PMID:25741868|PMID:28492532
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1602194	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:4667	kyphosis		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1602194	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9001510	Funnel Chest		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1602194	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:25741868
1304687	Alkbh8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1602194	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
1304688	Slc49a3	solute carrier family 49 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304688	Slc49a3	solute carrier family 49 member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304688	Slc49a3	solute carrier family 49 member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304688	Slc49a3	solute carrier family 49 member 3	gene	DOID:3275	thymoma		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304688	Slc49a3	solute carrier family 49 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304688	Slc49a3	solute carrier family 49 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304688	Slc49a3	solute carrier family 49 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304688	Slc49a3	solute carrier family 49 member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304689	Tubgcp5	tubulin gamma complex component 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304689	Tubgcp5	tubulin gamma complex component 5	gene	DOID:10534	stomach cancer		ISO	RGD:1312280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304689	Tubgcp5	tubulin gamma complex component 5	gene	DOID:10907	microcephaly		ISO	RGD:1312280	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1304689	Tubgcp5	tubulin gamma complex component 5	gene	DOID:1115	sarcoma		ISO	RGD:1312280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304689	Tubgcp5	tubulin gamma complex component 5	gene	DOID:1324	lung cancer		ISO	RGD:1312280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304689	Tubgcp5	tubulin gamma complex component 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304689	Tubgcp5	tubulin gamma complex component 5	gene	DOID:4362	cervical cancer		ISO	RGD:1312280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304689	Tubgcp5	tubulin gamma complex component 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304689	Tubgcp5	tubulin gamma complex component 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304689	Tubgcp5	tubulin gamma complex component 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304689	Tubgcp5	tubulin gamma complex component 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304690	Eml4	EMAP like 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304690	Eml4	EMAP like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304690	Eml4	EMAP like 4	gene	DOID:1115	sarcoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304690	Eml4	EMAP like 4	gene	DOID:1324	lung cancer		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304690	Eml4	EMAP like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304690	Eml4	EMAP like 4	gene	DOID:3275	thymoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304690	Eml4	EMAP like 4	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1351948	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17625570|PMID:21757253|PMID:21767331|PMID:22568572|PMID:22617245|PMID:22986231
1304690	Eml4	EMAP like 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1351948	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:22980554|PMID:22999080
1304690	Eml4	EMAP like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304690	Eml4	EMAP like 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304690	Eml4	EMAP like 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1351948	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304690	Eml4	EMAP like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304690	Eml4	EMAP like 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1304690	Eml4	EMAP like 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304690	Eml4	EMAP like 4	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1351948	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22986231|PMID:22999080
1304690	Eml4	EMAP like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304690	Eml4	EMAP like 4	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1351948	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22986231
1304690	Eml4	EMAP like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304690	Eml4	EMAP like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304690	Eml4	EMAP like 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312283	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9002554	Tachycardia		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:25741868
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9002589	Bone Fractures		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9007736	Vertigo		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304691	Rabgap1	RAB GTPase activating protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304692	Pus7l	pseudouridine synthase 7 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304692	Pus7l	pseudouridine synthase 7 like	gene	DOID:1115	sarcoma		ISO	RGD:1606495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304692	Pus7l	pseudouridine synthase 7 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1606495	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304692	Pus7l	pseudouridine synthase 7 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304692	Pus7l	pseudouridine synthase 7 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304692	Pus7l	pseudouridine synthase 7 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606495	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304692	Pus7l	pseudouridine synthase 7 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304692	Pus7l	pseudouridine synthase 7 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304693	Mms22l	MMS22-like, DNA repair protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1312286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304693	Mms22l	MMS22-like, DNA repair protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304694	Kiaa0930	KIAA0930 homolog	gene	DOID:0080600	COVID-19		ISO	RGD:1312287	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1304694	Kiaa0930	KIAA0930 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304694	Kiaa0930	KIAA0930 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304694	Kiaa0930	KIAA0930 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304694	Kiaa0930	KIAA0930 homolog	gene	DOID:1909	melanoma		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304694	Kiaa0930	KIAA0930 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304694	Kiaa0930	KIAA0930 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304694	Kiaa0930	KIAA0930 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304694	Kiaa0930	KIAA0930 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:0050567	orofacial cleft		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:0070658	alcohol-associated liver disease		IEP		D	RGD:11553884|PMID:25767260	20161017	RGD		protein:increased expression:liver, endoplasmic reticulum (rat)	
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:0080001	bone disease		ISO	RGD:1312289	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22228435
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:0080739	Ehlers-Danlos syndrome spondylodysplastic type 3		ISO	RGD:1312289	D	RGD:11553863|PMID:18513683	20161014	RGD		DNA:deletion:cds:c.483_491del9 (human)	
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:0080739	Ehlers-Danlos syndrome spondylodysplastic type 3		ISO	RGD:1312289	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:0080739	Ehlers-Danlos syndrome spondylodysplastic type 3		ISO	RGD:1312289	D	RGD:7240710	20130221	OMIM			
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:0080739	Ehlers-Danlos syndrome spondylodysplastic type 3		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: SLC39A13-related condition	PMID:18513683|PMID:24033266|PMID:25007800|PMID:25741868|PMID:28492532|PMID:32295219
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:10534	stomach cancer		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:1115	sarcoma		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:11830	myopia		ISO	RGD:1312289	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:12176	goiter		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:1324	lung cancer		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1312289	D	RGD:11553861|PMID:18985159	20161014	RGD		DNA:missense mutation:cds:p.G74D (human)	
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1312289	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18985159
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1312289	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:25741868|PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1551989	D	RGD:11553861|PMID:18985159	20161014	RGD			
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:1596	depressive disorder		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:1826	epilepsy		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:2030	anxiety disorder		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:2841	asthma		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:3144	cutis laxa		ISO	RGD:1312289	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868|PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:419	scleroderma		ISO	RGD:1312289	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scleroderma	PMID:25741868|PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:4667	kyphosis		ISO	RGD:1312289	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18985159
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:480	movement disease		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1312289	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:630	genetic disease		ISO	RGD:1312289	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:65	connective tissue disease		ISO	RGD:1312289	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18985159|PMID:22228435
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:65	connective tissue disease		ISO	RGD:1312289	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:7998	hyperthyroidism		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9000793	Fine-Lubinsky Syndrome		ISO	RGD:1312289	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Fine-Lubinsky Syndrome	PMID:25741868
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9001733	Tinnitus		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9003539	Hyperacusis		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9003566	Mesothelioma		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9003921	Zinc Deficiency		IEP		D	RGD:11553849|PMID:20859692	20161128	RGD		mRNA:increased expression:lung, kidney (rat)	
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9007573	Flatfoot		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9007661	Dwarfism		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature	PMID:25741868
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9007736	Vertigo		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9008023	Memory Disorders		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9008421	Epistaxis		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9009007	Tooth Abnormalities		ISO	RGD:1312289	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18985159|PMID:22228435
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9834	hyperopia		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:988	mitral valve prolapse		ISO	RGD:1312289	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:25741868|PMID:28492532
1304695	Slc39a13	solute carrier family 39 member 13	gene	DOID:9970	obesity		ISO	RGD:1312289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1304696	Txndc15	thioredoxin domain containing 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304696	Txndc15	thioredoxin domain containing 15	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1312290	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:25741868
1304696	Txndc15	thioredoxin domain containing 15	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1312290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:25741868|PMID:27894351|PMID:29209597
1304696	Txndc15	thioredoxin domain containing 15	gene	DOID:0050778	Meckel syndrome		ISS	RGD:1312291	D	RGD:13592920	20260423	MouseDO			
1304696	Txndc15	thioredoxin domain containing 15	gene	DOID:0070703	Meckel syndrome 14		ISO	RGD:1312290	D	RGD:7240710	20220518	OMIM			
1304696	Txndc15	thioredoxin domain containing 15	gene	DOID:0070703	Meckel syndrome 14		ISO	RGD:1312290	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MECKEL SYNDROME 14 | ClinVar Annotator: match by term: TXNDC15-related condition	PMID:25741868|PMID:27894351|PMID:28492532|PMID:30851085
1304696	Txndc15	thioredoxin domain containing 15	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1312290	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	PMID:25741868
1304696	Txndc15	thioredoxin domain containing 15	gene	DOID:10534	stomach cancer		ISO	RGD:1312290	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1304696	Txndc15	thioredoxin domain containing 15	gene	DOID:4362	cervical cancer		ISO	RGD:1312290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304696	Txndc15	thioredoxin domain containing 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304696	Txndc15	thioredoxin domain containing 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304696	Txndc15	thioredoxin domain containing 15	gene	DOID:630	genetic disease		ISO	RGD:1312290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1304697	Actl7a	actin-like 7a	gene	DOID:0070585	spermatogenic failure 86		ISO	RGD:1312292	D	RGD:7240710	20230906	OMIM			
1304697	Actl7a	actin-like 7a	gene	DOID:0070585	spermatogenic failure 86		ISO	RGD:1312292	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 86 | ClinVar Annotator: match by term: Spermatogenic failure 86	PMID:25741868
1304697	Actl7a	actin-like 7a	gene	DOID:12336	male infertility		ISO	RGD:1312292	D	RGD:13831339|PMID:26957350	20181227	RGD			
1304697	Actl7a	actin-like 7a	gene	DOID:4006	bladder urothelial carcinoma		ISO	RGD:1312292	D	RGD:13831338|PMID:29058301	20181227	RGD			
1304698	Srprb	SRP receptor subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304698	Srprb	SRP receptor subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1312294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304698	Srprb	SRP receptor subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1312294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304698	Srprb	SRP receptor subunit beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1312294	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304698	Srprb	SRP receptor subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304698	Srprb	SRP receptor subunit beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304698	Srprb	SRP receptor subunit beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304698	Srprb	SRP receptor subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304699	Naxe	NAD(P)HX epimerase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304699	Naxe	NAD(P)HX epimerase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304699	Naxe	NAD(P)HX epimerase	gene	DOID:1826	epilepsy		ISO	RGD:1312295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1304699	Naxe	NAD(P)HX epimerase	gene	DOID:4362	cervical cancer		ISO	RGD:1312295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304699	Naxe	NAD(P)HX epimerase	gene	DOID:5041	esophageal cancer		ISO	RGD:1312295	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304699	Naxe	NAD(P)HX epimerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304699	Naxe	NAD(P)HX epimerase	gene	DOID:630	genetic disease		ISO	RGD:1312295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1304699	Naxe	NAD(P)HX epimerase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304699	Naxe	NAD(P)HX epimerase	gene	DOID:9006901	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy		ISO	RGD:1312295	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY | ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	PMID:25741868|PMID:27290639|PMID:27616477|PMID:28492532|PMID:33798445
1304699	Naxe	NAD(P)HX epimerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304699	Naxe	NAD(P)HX epimerase	gene	DOID:9008024	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1		ISO	RGD:1312295	D	RGD:7240710	20190315	OMIM			
1304699	Naxe	NAD(P)HX epimerase	gene	DOID:9008024	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1		ISO	RGD:1312295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | ClinVar Annotator: match by term: NAXE-related condition	PMID:25741868|PMID:28492532|PMID:31745726|PMID:31758406|PMID:32020600|PMID:33798445|PMID:35637064|PMID:36773198|PMID:38419707|PMID:38703036
1304700	Ndst2	N-deacetylase and N-sulfotransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1312297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304700	Ndst2	N-deacetylase and N-sulfotransferase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312297	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1304701	Prmt6	protein arginine methyltransferase 6	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1312299	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27506785
1304701	Prmt6	protein arginine methyltransferase 6	gene	DOID:9005632	Cocaine-Related Disorders	treatment	IEP		D	RGD:11561325|PMID:27506785	20250327	RGD			
1304701	Prmt6	protein arginine methyltransferase 6	gene	DOID:9005632	Cocaine-Related Disorders	treatment	ISO	RGD:1550002	D	RGD:11561325|PMID:27506785	20250327	RGD			
1304701	Prmt6	protein arginine methyltransferase 6	gene	DOID:9975	cocaine dependence		ISO	RGD:1312299	D	RGD:11561325|PMID:27506785	20250326	RGD		mRNA:decreased expression:nucleus accumbens (human)	
1304702	Colgalt2	collagen beta(1-O)galactosyltransferase 2	gene	DOID:0080600	COVID-19		ISO	RGD:1602008	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1304702	Colgalt2	collagen beta(1-O)galactosyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304702	Colgalt2	collagen beta(1-O)galactosyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1602008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304702	Colgalt2	collagen beta(1-O)galactosyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1602008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304702	Colgalt2	collagen beta(1-O)galactosyltransferase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1602008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1304702	Colgalt2	collagen beta(1-O)galactosyltransferase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304702	Colgalt2	collagen beta(1-O)galactosyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304702	Colgalt2	collagen beta(1-O)galactosyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304702	Colgalt2	collagen beta(1-O)galactosyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304703	Tnfrsf17	TNF receptor superfamily member 17	gene	DOID:0080600	COVID-19		ISO	RGD:1312303	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1304703	Tnfrsf17	TNF receptor superfamily member 17	gene	DOID:1520	colon carcinoma		ISO	RGD:1312303	D	RGD:2317311|PMID:11104810	20100326	RGD			
1304703	Tnfrsf17	TNF receptor superfamily member 17	gene	DOID:9538	multiple myeloma		ISO	RGD:1312303	D	RGD:2317306|PMID:15692072	20100326	RGD			
1304704	Rtraf	RNA transcription, translation and transport factor	gene	DOID:10534	stomach cancer		ISO	RGD:1312305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304704	Rtraf	RNA transcription, translation and transport factor	gene	DOID:1324	lung cancer		ISO	RGD:1312305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304704	Rtraf	RNA transcription, translation and transport factor	gene	DOID:1909	melanoma		ISO	RGD:1312305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304704	Rtraf	RNA transcription, translation and transport factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304704	Rtraf	RNA transcription, translation and transport factor	gene	DOID:4362	cervical cancer		ISO	RGD:1312305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304704	Rtraf	RNA transcription, translation and transport factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304704	Rtraf	RNA transcription, translation and transport factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304704	Rtraf	RNA transcription, translation and transport factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304706	Tmem147	transmembrane protein 147	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304706	Tmem147	transmembrane protein 147	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304706	Tmem147	transmembrane protein 147	gene	DOID:10534	stomach cancer		ISO	RGD:1607077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304706	Tmem147	transmembrane protein 147	gene	DOID:1059	intellectual disability		ISO	RGD:1607077	D	RGD:8554872	20221122	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:36044892
1304706	Tmem147	transmembrane protein 147	gene	DOID:1909	melanoma		ISO	RGD:1607077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304706	Tmem147	transmembrane protein 147	gene	DOID:630	genetic disease		ISO	RGD:1607077	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1304706	Tmem147	transmembrane protein 147	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1607077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304706	Tmem147	transmembrane protein 147	gene	DOID:9007224	Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly		ISO	RGD:1607077	D	RGD:7240710	20221102	OMIM			
1304706	Tmem147	transmembrane protein 147	gene	DOID:9007224	Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly		ISO	RGD:1607077	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY | ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | ClinVar Annotator: match by term: TMEM147-related condition	PMID:25741868|PMID:36044892
1304706	Tmem147	transmembrane protein 147	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304707	Lrfn1	leucine rich repeat and fibronectin type III domain containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1312309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1304707	Lrfn1	leucine rich repeat and fibronectin type III domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304708	Dapk2	death-associated protein kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304708	Dapk2	death-associated protein kinase 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1312311	D	RGD:11554173	20190409	CTD		CTD Direct Evidence: marker/mechanism	PMID:28978663
1304708	Dapk2	death-associated protein kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304708	Dapk2	death-associated protein kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304708	Dapk2	death-associated protein kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1312311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304708	Dapk2	death-associated protein kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1312311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304708	Dapk2	death-associated protein kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304708	Dapk2	death-associated protein kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304708	Dapk2	death-associated protein kinase 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1312311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1304708	Dapk2	death-associated protein kinase 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1312311	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1304708	Dapk2	death-associated protein kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304708	Dapk2	death-associated protein kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304708	Dapk2	death-associated protein kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1312311	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	PMID:28492532
1304709	Ca8	carbonic anhydrase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1304709	Ca8	carbonic anhydrase 8	gene	DOID:0060058	lymphoma		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304709	Ca8	carbonic anhydrase 8	gene	DOID:0070558	autosomal recessive spinocerebellar ataxia 34		ISO	RGD:1312313	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304709	Ca8	carbonic anhydrase 8	gene	DOID:0070558	autosomal recessive spinocerebellar ataxia 34		ISO	RGD:1312313	D	RGD:7240710	20130221	OMIM			
1304709	Ca8	carbonic anhydrase 8	gene	DOID:0070558	autosomal recessive spinocerebellar ataxia 34		ISO	RGD:1312313	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34	PMID:25741868
1304709	Ca8	carbonic anhydrase 8	gene	DOID:0070558	autosomal recessive spinocerebellar ataxia 34		ISS	RGD:1312314	D	RGD:13592920	20260312	MouseDO		OMIM:613227	
1304709	Ca8	carbonic anhydrase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1304709	Ca8	carbonic anhydrase 8	gene	DOID:1059	intellectual disability		ISO	RGD:1312313	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1304709	Ca8	carbonic anhydrase 8	gene	DOID:1059	intellectual disability		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1304709	Ca8	carbonic anhydrase 8	gene	DOID:10907	microcephaly		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1304709	Ca8	carbonic anhydrase 8	gene	DOID:1115	sarcoma		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1304709	Ca8	carbonic anhydrase 8	gene	DOID:1247	blood coagulation disease		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868
1304709	Ca8	carbonic anhydrase 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304709	Ca8	carbonic anhydrase 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1304709	Ca8	carbonic anhydrase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312313	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304709	Ca8	carbonic anhydrase 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1304709	Ca8	carbonic anhydrase 8	gene	DOID:630	genetic disease		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1304709	Ca8	carbonic anhydrase 8	gene	DOID:9004866	Ataxia		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1304709	Ca8	carbonic anhydrase 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1304709	Ca8	carbonic anhydrase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1304709	Ca8	carbonic anhydrase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1304709	Ca8	carbonic anhydrase 8	gene	DOID:9563	bronchiectasis		ISO	RGD:1312313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:25741868
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1312315	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: syndromic intellectual disability	PMID:25741868|PMID:28492532
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312315	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:0060260	ptosis		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1312315	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Severe hydrocephalus	PMID:25741868
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312315	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121791
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:1115	sarcoma		ISO	RGD:1312315	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:12849	autistic disorder		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:1324	lung cancer		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:2018	hyperinsulinism		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemia	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:255	hemangioma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glabellar hemangioma	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:2725	capillary hemangioma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312315	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:630	genetic disease		ISO	RGD:1312315	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9003591	Telecanthus		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9003728	Shashi-Pena Syndrome		ISO	RGD:1312315	D	RGD:7240710	20190315	OMIM			
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9003728	Shashi-Pena Syndrome		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ASXL2-related condition | ClinVar Annotator: match by term: SHASHI-PENA SYNDROME | ClinVar Annotator: match by term: Shashi-Pena syndrome	PMID:25741868|PMID:27693232|PMID:28492532|PMID:28516957|PMID:30251205|PMID:35101336
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin resistance	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1312315	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312315	D	RGD:11554173	20161213	CTD		CTD Direct Evidence: marker/mechanism	PMID:27798625
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:27693232
1304710	Asxl2	ASXL transcriptional regulator 2	gene	DOID:9970	obesity		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:27693232
1304711	Ints10	integrator complex subunit 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304711	Ints10	integrator complex subunit 10	gene	DOID:10534	stomach cancer		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304711	Ints10	integrator complex subunit 10	gene	DOID:1115	sarcoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304711	Ints10	integrator complex subunit 10	gene	DOID:1324	lung cancer		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304711	Ints10	integrator complex subunit 10	gene	DOID:1909	melanoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304711	Ints10	integrator complex subunit 10	gene	DOID:3275	thymoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304711	Ints10	integrator complex subunit 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304711	Ints10	integrator complex subunit 10	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304711	Ints10	integrator complex subunit 10	gene	DOID:4362	cervical cancer		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304711	Ints10	integrator complex subunit 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304711	Ints10	integrator complex subunit 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1602701	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304711	Ints10	integrator complex subunit 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304711	Ints10	integrator complex subunit 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304711	Ints10	integrator complex subunit 10	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304711	Ints10	integrator complex subunit 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304711	Ints10	integrator complex subunit 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304711	Ints10	integrator complex subunit 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304714	Eral1	Era-like 12S mitochondrial rRNA chaperone 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304714	Eral1	Era-like 12S mitochondrial rRNA chaperone 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304714	Eral1	Era-like 12S mitochondrial rRNA chaperone 1	gene	DOID:0080256	Perrault syndrome 6		ISO	RGD:1312320	D	RGD:7240710	20190315	OMIM			
1304714	Eral1	Era-like 12S mitochondrial rRNA chaperone 1	gene	DOID:0080256	Perrault syndrome 6		ISO	RGD:1312320	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: PERRAULT SYNDROME 6 | ClinVar Annotator: match by term: Perrault syndrome 6	PMID:25741868|PMID:28449065
1304714	Eral1	Era-like 12S mitochondrial rRNA chaperone 1	gene	DOID:0080600	COVID-19		ISO	RGD:1312320	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1304714	Eral1	Era-like 12S mitochondrial rRNA chaperone 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304714	Eral1	Era-like 12S mitochondrial rRNA chaperone 1	gene	DOID:1324	lung cancer		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304714	Eral1	Era-like 12S mitochondrial rRNA chaperone 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304714	Eral1	Era-like 12S mitochondrial rRNA chaperone 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304714	Eral1	Era-like 12S mitochondrial rRNA chaperone 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312320	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304714	Eral1	Era-like 12S mitochondrial rRNA chaperone 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304714	Eral1	Era-like 12S mitochondrial rRNA chaperone 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312320	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1304714	Eral1	Era-like 12S mitochondrial rRNA chaperone 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304715	Rcsd1	RCSD domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304715	Rcsd1	RCSD domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304715	Rcsd1	RCSD domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304715	Rcsd1	RCSD domain containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603598	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1304715	Rcsd1	RCSD domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304715	Rcsd1	RCSD domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304715	Rcsd1	RCSD domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1603598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:0080064	autosomal recessive spinocerebellar ataxia 17		ISO	RGD:1312323	D	RGD:7240710	20150218	OMIM			
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:0080064	autosomal recessive spinocerebellar ataxia 17		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 | ClinVar Annotator: match by term: CWF19L1-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17	PMID:25361784|PMID:25741868|PMID:26197978|PMID:27016154|PMID:28492532
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1312323	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:630	genetic disease		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1312323	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:9004866	Ataxia		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: truncal ataxia	PMID:25741868
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1304716	Cwf19l1	CWF19 like cell cycle control factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
1304717	Cxcl17	C-X-C motif chemokine ligand 17	gene	DOID:0080600	COVID-19		ISO	RGD:1602051	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1312327	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:25175347|PMID:25741868|PMID:28492532
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:0070502	mitochondrial complex IV deficiency nuclear type 17		ISO	RGD:1312327	D	RGD:7240710	20201111	OMIM			
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:0070502	mitochondrial complex IV deficiency nuclear type 17		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COA8-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 17	PMID:25175347|PMID:25741868|PMID:28492532
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:10534	stomach cancer		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:1324	lung cancer		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:1826	epilepsy		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25175347|PMID:25741868|PMID:28492532
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:1909	melanoma		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Agammaglobulinemia	PMID:25175347|PMID:25741868|PMID:28492532
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:607	paraplegia		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25175347|PMID:25741868|PMID:28492532
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:630	genetic disease		ISO	RGD:1312327	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25175347|PMID:25741868|PMID:28492532
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304719	Coa8	cytochrome c oxidase assembly factor 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304722	Cadm4	cell adhesion molecule 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304722	Cadm4	cell adhesion molecule 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304722	Cadm4	cell adhesion molecule 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304722	Cadm4	cell adhesion molecule 4	gene	DOID:1324	lung cancer		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304722	Cadm4	cell adhesion molecule 4	gene	DOID:3275	thymoma		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304722	Cadm4	cell adhesion molecule 4	gene	DOID:4362	cervical cancer		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304722	Cadm4	cell adhesion molecule 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1312331	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304722	Cadm4	cell adhesion molecule 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304722	Cadm4	cell adhesion molecule 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304722	Cadm4	cell adhesion molecule 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1304723	Them4	thioesterase superfamily member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304723	Them4	thioesterase superfamily member 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304723	Them4	thioesterase superfamily member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304723	Them4	thioesterase superfamily member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603281	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:23392203
1304723	Them4	thioesterase superfamily member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304725	Dnajb1	DnaJ heat shock protein family (Hsp40) member B1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304725	Dnajb1	DnaJ heat shock protein family (Hsp40) member B1	gene	DOID:4362	cervical cancer		ISO	RGD:1312336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304725	Dnajb1	DnaJ heat shock protein family (Hsp40) member B1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312336	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304725	Dnajb1	DnaJ heat shock protein family (Hsp40) member B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0060249	scoliosis		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angelman-like syndrome	PMID:25741868
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0070480	schwannomatosis 1		ISO	RGD:1313743	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: SWNTS1	PMID:25741868|PMID:28492532
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1313743	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:25741868|PMID:26760213|PMID:27993330|PMID:29489754|PMID:32025007
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0112368	Coffin-Siris syndrome 5		ISO	RGD:1313743	D	RGD:7240710	20260805	OMIM			
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:0112368	Coffin-Siris syndrome 5		ISO	RGD:1313743	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 5 | ClinVar Annotator: match by term: Coffin-Siris syndrome 5	PMID:23929686|PMID:25741868|PMID:27264197|PMID:28492532|PMID:35980532|PMID:37500730
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:1059	intellectual disability		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:35980532
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:12849	autistic disorder		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532|PMID:35980532
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1313743	D	RGD:11554173	20221108	CTD		CTD Direct Evidence: marker/mechanism	PMID:22426308
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astrocytoma	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:3459	breast carcinoma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:28492532
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:3565	meningioma		ISO	RGD:1313743	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:35681054
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:3565	meningioma		ISO	RGD:1313743	D	RGD:151708704|PMID:29409008	20220414	RGD		DNA:multiple:multiple (human)	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:3565	meningioma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:17576681|PMID:28492532|PMID:35101336|PMID:9536098
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:4210	clear cell meningioma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell meningioma	PMID:27993330
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:4362	cervical cancer		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:4586	familial meningioma		ISO	RGD:1313743	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23377182
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:4586	familial meningioma		ISO	RGD:1313743	D	RGD:7240710	20260805	OMIM			
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:4586	familial meningioma		ISO	RGD:1313743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to | ClinVar Annotator: match by term: familial meningioma	PMID:16199547|PMID:17576681|PMID:23377182|PMID:23556151|PMID:23929686|PMID:25143307|PMID:25741868|PMID:26803492|PMID:27264197|PMID:27891692|PMID:28474749|PMID:28492532|PMID:29625052|PMID:31675646|PMID:33020650|PMID:34918830|PMID:35681054|PMID:35980532|PMID:37164167|PMID:37350193|PMID:37500730|PMID:9536098
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:480	movement disease		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:630	genetic disease		ISO	RGD:1313743	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313743	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:23377182|PMID:25143307|PMID:25168959|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313743	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:23377182|PMID:25143307|PMID:25168959|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:35980532|PMID:37500730|PMID:9536098
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313743	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:23377182|PMID:25143307|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:35980532|PMID:37500730|PMID:9536098
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313743	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:23377182|PMID:25143307|PMID:25169753|PMID:25741868|PMID:26803492|PMID:28492532|PMID:30209809|PMID:33651299|PMID:35980532|PMID:37500730|PMID:9536098
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:23377182|PMID:25143307|PMID:25741868|PMID:26803492|PMID:28492532|PMID:30209809|PMID:33651299|PMID:35980532|PMID:37500730|PMID:9536098
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9007722	Myoclonus		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23929686|PMID:25741868|PMID:27264197|PMID:28492532
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9009047	Laryngeal Cleft		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Laryngeal cleft	PMID:25741868
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1304726	Smarce1	SWI/SNF related BAF chromatin remodeling complex subunit E1	gene	DOID:9834	hyperopia		ISO	RGD:1313743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1304727	Mtf2	metal response element binding transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304727	Mtf2	metal response element binding transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304727	Mtf2	metal response element binding transcription factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304727	Mtf2	metal response element binding transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304727	Mtf2	metal response element binding transcription factor 2	gene	DOID:1909	melanoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304727	Mtf2	metal response element binding transcription factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304727	Mtf2	metal response element binding transcription factor 2	gene	DOID:3275	thymoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304727	Mtf2	metal response element binding transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605093	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304727	Mtf2	metal response element binding transcription factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304727	Mtf2	metal response element binding transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304727	Mtf2	metal response element binding transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304727	Mtf2	metal response element binding transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304727	Mtf2	metal response element binding transcription factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1605106	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:29138412
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1605106	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:29138412
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:1115	sarcoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605106	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:630	genetic disease		ISO	RGD:1605106	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29138412
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:9005357	Orofaciodigital Syndrome XV		ISO	RGD:1605106	D	RGD:7240710	20190315	OMIM			
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:9005357	Orofaciodigital Syndrome XV		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: OFDS XV | ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XV | ClinVar Annotator: match by term: Orofaciodigital syndrome XV	PMID:25741868|PMID:28492532|PMID:29138412
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:9005615	Joubert Syndrome 38		ISO	RGD:1605106	D	RGD:7240710	20210825	OMIM			
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:9005615	Joubert Syndrome 38		ISO	RGD:1605106	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 38	PMID:17576681|PMID:25741868|PMID:26643951|PMID:28492532|PMID:29138412|PMID:34523780|PMID:9536098
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:9008070	Short-Rib Thoracic Dysplasia 21 without Polydactyly		ISO	RGD:1605106	D	RGD:7240710	20210825	OMIM			
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:9008070	Short-Rib Thoracic Dysplasia 21 without Polydactyly		ISO	RGD:1605106	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly	PMID:25741868|PMID:28492532|PMID:29138412|PMID:34523780
1304728	4933427D14Rikl	RIKEN cDNA 4933427D14 gene like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304729	Sfn	stratifin	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1312341	D	RGD:2299928|PMID:17645415	20080821	RGD		protein:increased expression:urothelium (human)	
1304729	Sfn	stratifin	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1312341	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
1304729	Sfn	stratifin	gene	DOID:2101	vulva squamous cell carcinoma		ISO	RGD:1312341	D	RGD:2299936|PMID:11896620	20080821	RGD		DNA, mRNA:hypermethylation, decreased expression:vulva	
1304729	Sfn	stratifin	gene	DOID:2394	ovarian cancer		ISO	RGD:1312341	D	RGD:2299930|PMID:16773180	20080821	RGD		mRNA:increased expression:ovary	
1304729	Sfn	stratifin	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1312341	D	RGD:2299933|PMID:15102672	20080821	RGD			
1304729	Sfn	stratifin	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1312341	D	RGD:2299929|PMID:16964403	20080821	RGD		DNA:hypermethylation:promoter	
1304729	Sfn	stratifin	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1312341	D	RGD:2299931|PMID:16271083	20080821	RGD			
1304729	Sfn	stratifin	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1312341	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
1304729	Sfn	stratifin	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1312341	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
1304729	Sfn	stratifin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312341	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
1304729	Sfn	stratifin	gene	DOID:8719	in situ carcinoma		ISO	RGD:1312341	D	RGD:2299936|PMID:11896620	20080821	RGD		mRNA:decreased expression:vulva	
1304729	Sfn	stratifin	gene	DOID:9000058	Keloid		ISO	RGD:1312341	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
1304729	Sfn	stratifin	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1312341	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
1304729	Sfn	stratifin	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1312341	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
1304729	Sfn	stratifin	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1312341	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
1304730	Dcaf10	DDB1 and CUL4 associated factor 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304730	Dcaf10	DDB1 and CUL4 associated factor 10	gene	DOID:3070	high grade glioma		ISO	RGD:1352348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304730	Dcaf10	DDB1 and CUL4 associated factor 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304733	Ep400	E1A binding protein p400	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304733	Ep400	E1A binding protein p400	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304733	Ep400	E1A binding protein p400	gene	DOID:0070309	absence epilepsy		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:39708813
1304733	Ep400	E1A binding protein p400	gene	DOID:10534	stomach cancer		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304733	Ep400	E1A binding protein p400	gene	DOID:1059	intellectual disability		ISO	RGD:1312347	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability, borderline	PMID:25741868|PMID:39708813
1304733	Ep400	E1A binding protein p400	gene	DOID:10907	microcephaly		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:39708813
1304733	Ep400	E1A binding protein p400	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304733	Ep400	E1A binding protein p400	gene	DOID:1115	sarcoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304733	Ep400	E1A binding protein p400	gene	DOID:1324	lung cancer		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304733	Ep400	E1A binding protein p400	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304733	Ep400	E1A binding protein p400	gene	DOID:3275	thymoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304733	Ep400	E1A binding protein p400	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304733	Ep400	E1A binding protein p400	gene	DOID:4362	cervical cancer		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304733	Ep400	E1A binding protein p400	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304733	Ep400	E1A binding protein p400	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304733	Ep400	E1A binding protein p400	gene	DOID:5041	esophageal cancer		ISO	RGD:1312347	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304733	Ep400	E1A binding protein p400	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304733	Ep400	E1A binding protein p400	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304733	Ep400	E1A binding protein p400	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304733	Ep400	E1A binding protein p400	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312347	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1304733	Ep400	E1A binding protein p400	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304733	Ep400	E1A binding protein p400	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304733	Ep400	E1A binding protein p400	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304734	Elmo3	engulfment and cell motility 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304734	Elmo3	engulfment and cell motility 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304734	Elmo3	engulfment and cell motility 3	gene	DOID:1324	lung cancer		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304734	Elmo3	engulfment and cell motility 3	gene	DOID:1909	melanoma		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304734	Elmo3	engulfment and cell motility 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304734	Elmo3	engulfment and cell motility 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304734	Elmo3	engulfment and cell motility 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304734	Elmo3	engulfment and cell motility 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304735	Mov10l1	Mov10 like RNA helicase 1	gene	DOID:0070572	spermatogenic failure 73		ISO	RGD:1345883	D	RGD:7240710	20220518	OMIM			
1304735	Mov10l1	Mov10 like RNA helicase 1	gene	DOID:0070572	spermatogenic failure 73		ISO	RGD:1345883	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 73 | ClinVar Annotator: match by term: Spermatogenic failure 73	PMID:25741868
1304735	Mov10l1	Mov10 like RNA helicase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304735	Mov10l1	Mov10 like RNA helicase 1	gene	DOID:12336	male infertility		ISO	RGD:1345883	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
1304735	Mov10l1	Mov10 like RNA helicase 1	gene	DOID:14227	azoospermia		ISO	RGD:1345883	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Azoospermia	
1304735	Mov10l1	Mov10 like RNA helicase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304735	Mov10l1	Mov10 like RNA helicase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304735	Mov10l1	Mov10 like RNA helicase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304735	Mov10l1	Mov10 like RNA helicase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304735	Mov10l1	Mov10 like RNA helicase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1304736	Fndc3a	fibronectin type III domain containing 3a	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304736	Fndc3a	fibronectin type III domain containing 3a	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304736	Fndc3a	fibronectin type III domain containing 3a	gene	DOID:1115	sarcoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304736	Fndc3a	fibronectin type III domain containing 3a	gene	DOID:1324	lung cancer		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304736	Fndc3a	fibronectin type III domain containing 3a	gene	DOID:1909	melanoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304736	Fndc3a	fibronectin type III domain containing 3a	gene	DOID:3275	thymoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304736	Fndc3a	fibronectin type III domain containing 3a	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304736	Fndc3a	fibronectin type III domain containing 3a	gene	DOID:4362	cervical cancer		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304736	Fndc3a	fibronectin type III domain containing 3a	gene	DOID:5041	esophageal cancer		ISO	RGD:1354235	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304736	Fndc3a	fibronectin type III domain containing 3a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304736	Fndc3a	fibronectin type III domain containing 3a	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304736	Fndc3a	fibronectin type III domain containing 3a	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304736	Fndc3a	fibronectin type III domain containing 3a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304736	Fndc3a	fibronectin type III domain containing 3a	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304737	Zfr2	zinc finger RNA binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304737	Zfr2	zinc finger RNA binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1312353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304737	Zfr2	zinc finger RNA binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1312353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304737	Zfr2	zinc finger RNA binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1312353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304737	Zfr2	zinc finger RNA binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304737	Zfr2	zinc finger RNA binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304737	Zfr2	zinc finger RNA binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304737	Zfr2	zinc finger RNA binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304737	Zfr2	zinc finger RNA binding protein 2	gene	DOID:9970	obesity		ISO	RGD:1312353	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:29273807
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:0060058	lymphoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1312355	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:0081292	traumatic brain injury		ISO	RGD:1312355	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:10534	stomach cancer		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:1115	sarcoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:1324	lung cancer		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:1909	melanoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:3070	high grade glioma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:4362	cervical cancer		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:5041	esophageal cancer		ISO	RGD:1312355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1312355	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:1312355	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:9008582	Developmental Disease		ISO	RGD:1312355	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1304738	Ube4b	ubiquitination factor E4B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312355	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304739	Exosc3	exosome component 3	gene	DOID:0060264	pontocerebellar hypoplasia		ISO	RGD:1312357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia	PMID:18414213|PMID:22544365|PMID:23284067|PMID:23975261|PMID:24033266|PMID:24524299|PMID:25533962|PMID:25741868|PMID:25809939|PMID:28492532|PMID:31980526|PMID:33462000|PMID:34056100|PMID:36004024
1304739	Exosc3	exosome component 3	gene	DOID:0060266	pontocerebellar hypoplasia type 1B		ISO	RGD:1312357	D	RGD:7240710	20140911	OMIM			
1304739	Exosc3	exosome component 3	gene	DOID:0060266	pontocerebellar hypoplasia type 1B		ISO	RGD:1312357	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EXOSC3-related condition | ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1B | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1b	PMID:16199547|PMID:18414213|PMID:22544365|PMID:23284067|PMID:23975261|PMID:24033266|PMID:24524299|PMID:25533962|PMID:25741868|PMID:25809939|PMID:27777260|PMID:28053271|PMID:28492532|PMID:29093021|PMID:30986545|PMID:31692161|PMID:31980526|PMID:33462000|PMID:34056100|PMID:36004024
1304739	Exosc3	exosome component 3	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1312357	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545|PMID:34582790|PMID:37337484|PMID:38347586
1304739	Exosc3	exosome component 3	gene	DOID:0112322	pontocerebellar hypoplasia type 1		ISO	RGD:1312357	D	RGD:11554173	20190723	CTD		CTD Direct Evidence: marker/mechanism	PMID:22544365
1304739	Exosc3	exosome component 3	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1312357	D	RGD:151893464|PMID:29069277	20220420	RGD		mRNA:altered expression:stomach, tumor (human)	
1304739	Exosc3	exosome component 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304739	Exosc3	exosome component 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304739	Exosc3	exosome component 3	gene	DOID:630	genetic disease		ISO	RGD:1312357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1304739	Exosc3	exosome component 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1312357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:18414213|PMID:23975261|PMID:24033266|PMID:25741868|PMID:25809939|PMID:28492532|PMID:34056100
1304740	Tspan9	tetraspanin 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304740	Tspan9	tetraspanin 9	gene	DOID:1324	lung cancer		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304740	Tspan9	tetraspanin 9	gene	DOID:1909	melanoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304740	Tspan9	tetraspanin 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304740	Tspan9	tetraspanin 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1304740	Tspan9	tetraspanin 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304740	Tspan9	tetraspanin 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304743	Ust	uronyl-2-sulfotransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304743	Ust	uronyl-2-sulfotransferase	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1312363	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1304743	Ust	uronyl-2-sulfotransferase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1312363	D	RGD:401854249|PMID:35642741	20231106	RGD		DNA:SNP:CDS:mutiple (human)	
1304743	Ust	uronyl-2-sulfotransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304743	Ust	uronyl-2-sulfotransferase	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1312363	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1304743	Ust	uronyl-2-sulfotransferase	gene	DOID:289	endometriosis		ISO	RGD:1312363	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1304744	Stx11	syntaxin 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304744	Stx11	syntaxin 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304744	Stx11	syntaxin 11	gene	DOID:0110924	familial hemophagocytic lymphohistiocytosis 4		ISO	RGD:1312365	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304744	Stx11	syntaxin 11	gene	DOID:0110924	familial hemophagocytic lymphohistiocytosis 4		ISO	RGD:1312365	D	RGD:7240710	20150527	OMIM			
1304744	Stx11	syntaxin 11	gene	DOID:0110924	familial hemophagocytic lymphohistiocytosis 4		ISO	RGD:1312365	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 | ClinVar Annotator: match by term: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 4 | ClinVar Annotator: match by term: STX11-related condition	PMID:15703195|PMID:16582076|PMID:17525286|PMID:19967551|PMID:20486178|PMID:24459464|PMID:24524345|PMID:24916509|PMID:25741868|PMID:26004995|PMID:26176172|PMID:28399723|PMID:28492532|PMID:28750028|PMID:29113160|PMID:29665027|PMID:30290665|PMID:30899265|PMID:32542393|PMID:33746956
1304744	Stx11	syntaxin 11	gene	DOID:0110924	familial hemophagocytic lymphohistiocytosis 4		ISS	RGD:1312366	D	RGD:13592920	20230718	MouseDO		OMIM:603552	
1304744	Stx11	syntaxin 11	gene	DOID:0110925	familial hemophagocytic lymphohistiocytosis 5		ISO	RGD:1312365	D	RGD:8554872	20220104	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5	PMID:15703195
1304744	Stx11	syntaxin 11	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1312365	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:24524345|PMID:25741868|PMID:28492532
1304744	Stx11	syntaxin 11	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1312365	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:24524345|PMID:25741868|PMID:28399723|PMID:28492532|PMID:30290665
1304744	Stx11	syntaxin 11	gene	DOID:630	genetic disease		ISO	RGD:1312365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1304744	Stx11	syntaxin 11	gene	DOID:9004404	Familial Hemophagocytic Lymphohistiocytoses		ISO	RGD:1312365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis	
1304744	Stx11	syntaxin 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1312370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:12716	newborn respiratory distress syndrome	treatment	ISO	RGD:1312370	D	RGD:632517845|PMID:22445700	20260129	RGD		associated with Premature Obstetric Labor;DNA:SNP: :rs2230739	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:126758770	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Broad thumb-hallux syndrome	PMID:15706485|PMID:28492532
1304747	Adcy9	adenylate cyclase 9	gene	DOID:2841	asthma		ISO	RGD:1312370	D	RGD:632517844|PMID:28076799	20260129	RGD		DNA:SNPs:intron:rs2601796, rs2601814	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:2841	asthma	severity	ISO	RGD:1312370	D	RGD:632517847|PMID:37579959	20260129	RGD		DNA:SNP:intron:rs2601796	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:2841	asthma	treatment	ISO	RGD:1312370	D	RGD:632517843|PMID:21545619	20260129	RGD		DNA:SNP:exon, haplotype:p.I772M (rs2230739), rs879619	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:3275	thymoma		ISO	RGD:1312370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:3324	mood disorder	no_association	ISO	RGD:1312370	D	RGD:1358365|PMID:11840511	19990101	RGD		DNA:polymorphisms:repeat,cds:	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1312370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1312370	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312370	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1304747	Adcy9	adenylate cyclase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:9415	allergic asthma		ISO	RGD:1312370	D	RGD:632517844|PMID:28076799	20260129	RGD		DNA:SNPs: :multiple	
1304747	Adcy9	adenylate cyclase 9	gene	DOID:9415	allergic asthma	treatment	IEP		D	RGD:632517846|PMID:38671520	20260129	RGD			
1304748	Ggact	gamma-glutamylamine cyclotransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2299985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304748	Ggact	gamma-glutamylamine cyclotransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2299985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:0050567	orofacial cleft		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft | ClinVar Annotator: match by term: Orofacial clefting	PMID:22813217|PMID:23806086|PMID:26963285|PMID:28492532
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:0050591	tooth agenesis		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis	PMID:22813217|PMID:23033978|PMID:23806086|PMID:25741868|PMID:26963285|PMID:28492532
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:0080074	neural tube defect		ISS	RGD:1312374	D	RGD:13592920	20180518	MouseDO		OMIM:182940 | OMIM:301410 | OMIM:601634	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:10126	keratoconus		ISO	RGD:1312373	D	RGD:8554872	20181009	ClinVar		ClinVar Annotator: match by term: Keratoconus	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:10283	prostate cancer		ISO	RGD:1312373	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:10283	prostate cancer		ISO	RGD:1312373	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:10907	microcephaly		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:1115	sarcoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:1324	lung cancer		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:1909	melanoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:2030	anxiety disorder		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:3275	thymoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1312373	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:630	genetic disease		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26387593|PMID:28492532|PMID:33391533|PMID:34593752
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1312373	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:25741868|PMID:28492532
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1312373	D	RGD:2298724|PMID:12660824	20080718	RGD			
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312374	D	RGD:4110127|PMID:18006602	20100817	RGD			
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:9002189	High Myopia		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:9002374	Coronary Artery Disease, Autosomal Dominant 2		ISO	RGD:1312373	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:9002374	Coronary Artery Disease, Autosomal Dominant 2		ISO	RGD:1312373	D	RGD:7240710	20130221	OMIM			
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:9002374	Coronary Artery Disease, Autosomal Dominant 2		ISO	RGD:1312373	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2	PMID:23703864|PMID:25741868|PMID:28492532
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1312373	D	RGD:2298725|PMID:17332414	20080718	RGD		DNA:missense mutation:cds	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1312373	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:24552774
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:9007661	Dwarfism		ISO	RGD:1312373	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:9008283	Selective Tooth Agenesis 7		ISO	RGD:1312373	D	RGD:7240710	20160120	OMIM			
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:9008283	Selective Tooth Agenesis 7		ISO	RGD:1312373	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LRP6-related condition | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 7 | ClinVar Annotator: match by term: Tooth agenesis, selective, 7	PMID:23033978|PMID:25741868|PMID:26387593|PMID:28492532|PMID:34306029|PMID:34593752|PMID:34834569
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304749	Lrp6	LDL receptor related protein 6	gene	DOID:9452	steatotic liver disease		ISS	RGD:1312374	D	RGD:13592920	20180518	MouseDO		OMIM:228100	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:0060058	lymphoma		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:10534	stomach cancer		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:1324	lung cancer		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:1909	melanoma		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:4362	cervical cancer		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1604352	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:9000387	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS		ISO	RGD:1604352	D	RGD:7240710	20220323	OMIM			
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:9000387	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS		ISO	RGD:1604352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis	PMID:25741868
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304751	Vps50	VPS50 subunit of EARP/GARPII complex	gene	DOID:9256	colorectal cancer		ISO	RGD:1604352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304753	Pcdh17	protocadherin 17	gene	DOID:10534	stomach cancer		ISO	RGD:1312379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304753	Pcdh17	protocadherin 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304753	Pcdh17	protocadherin 17	gene	DOID:1324	lung cancer		ISO	RGD:1312379	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304753	Pcdh17	protocadherin 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1312379	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304753	Pcdh17	protocadherin 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304753	Pcdh17	protocadherin 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304753	Pcdh17	protocadherin 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304753	Pcdh17	protocadherin 17	gene	DOID:9256	colorectal cancer		ISO	RGD:1312379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	
1304754	Hcls1	hematopoietic cell specific Lyn substrate 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304754	Hcls1	hematopoietic cell specific Lyn substrate 1	gene	DOID:1115	sarcoma		ISO	RGD:1312380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304754	Hcls1	hematopoietic cell specific Lyn substrate 1	gene	DOID:1324	lung cancer		ISO	RGD:1312380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304754	Hcls1	hematopoietic cell specific Lyn substrate 1	gene	DOID:3275	thymoma		ISO	RGD:1312380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304754	Hcls1	hematopoietic cell specific Lyn substrate 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304754	Hcls1	hematopoietic cell specific Lyn substrate 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304754	Hcls1	hematopoietic cell specific Lyn substrate 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304754	Hcls1	hematopoietic cell specific Lyn substrate 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304754	Hcls1	hematopoietic cell specific Lyn substrate 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1312380	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12833524
1304754	Hcls1	hematopoietic cell specific Lyn substrate 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304754	Hcls1	hematopoietic cell specific Lyn substrate 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304754	Hcls1	hematopoietic cell specific Lyn substrate 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304754	Hcls1	hematopoietic cell specific Lyn substrate 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304755	Phlda2	pleckstrin homology-like domain, family A, member 2	gene	DOID:0080600	COVID-19		ISO	RGD:1312382	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
1304755	Phlda2	pleckstrin homology-like domain, family A, member 2	gene	DOID:3347	osteosarcoma		ISO	RGD:1312382	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:22021909
1304755	Phlda2	pleckstrin homology-like domain, family A, member 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1312382	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427
1304755	Phlda2	pleckstrin homology-like domain, family A, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304755	Phlda2	pleckstrin homology-like domain, family A, member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304756	Fank1	fibronectin type III and ankyrin repeat domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304756	Fank1	fibronectin type III and ankyrin repeat domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304756	Fank1	fibronectin type III and ankyrin repeat domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1312384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304756	Fank1	fibronectin type III and ankyrin repeat domains 1	gene	DOID:1909	melanoma		ISO	RGD:1312384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304756	Fank1	fibronectin type III and ankyrin repeat domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312384	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304756	Fank1	fibronectin type III and ankyrin repeat domains 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304756	Fank1	fibronectin type III and ankyrin repeat domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312384	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304756	Fank1	fibronectin type III and ankyrin repeat domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304756	Fank1	fibronectin type III and ankyrin repeat domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304756	Fank1	fibronectin type III and ankyrin repeat domains 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1312384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1304756	Fank1	fibronectin type III and ankyrin repeat domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304756	Fank1	fibronectin type III and ankyrin repeat domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304757	Elac1	elaC ribonuclease Z 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304757	Elac1	elaC ribonuclease Z 1	gene	DOID:1115	sarcoma		ISO	RGD:1312386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304757	Elac1	elaC ribonuclease Z 1	gene	DOID:3275	thymoma		ISO	RGD:1312386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304757	Elac1	elaC ribonuclease Z 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304757	Elac1	elaC ribonuclease Z 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1312386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304758	Tmub2	transmembrane and ubiquitin-like domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304758	Tmub2	transmembrane and ubiquitin-like domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604292	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304758	Tmub2	transmembrane and ubiquitin-like domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304758	Tmub2	transmembrane and ubiquitin-like domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304758	Tmub2	transmembrane and ubiquitin-like domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:0050671	female breast cancer	susceptibility	ISO	RGD:1605949	D	RGD:152995259|PMID:30303537	20220609	RGD		DNA:missense mutation:cds: (human)	
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17200668|PMID:17287723|PMID:18288683|PMID:18302019|PMID:19333784|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21932393|PMID:22241545|PMID:22310028|PMID:23824750|PMID:23977390|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:28492532|PMID:30287823
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1605949	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ductal carcinoma in situ	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30309218|PMID:33471991|PMID:39402389
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1	PMID:25741868|PMID:26315354|PMID:28492532|PMID:32546565|PMID:32885271
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:0080645	B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1		ISO	RGD:1605949	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1	PMID:25085752|PMID:25741868|PMID:28492532|PMID:33471991
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1605949	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:25085752|PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:33471991
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:0080777	lung sarcomatoid carcinoma		ISO	RGD:1605949	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Lung sarcomatoid carcinoma	
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1605949	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:25741868
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:0111094	Fanconi anemia complementation group N		ISO	RGD:1605949	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:0111094	Fanconi anemia complementation group N		ISO	RGD:1605949	D	RGD:7240710	20260812	OMIM			
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:0111094	Fanconi anemia complementation group N		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP N | ClinVar Annotator: match by term: Fanconi anemia complementation group N	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:23110154|PMID:23448497|PMID:23555315|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24448499|PMID:24485656|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25980754|PMID:26023681|PMID:26094658|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27099641|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27573125|PMID:27595995|PMID:27631815|PMID:27779110|PMID:27783279|PMID:27829436|PMID:27907908|PMID:27930734|PMID:27978560|PMID:28152038|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28492532|PMID:28524162|PMID:28580595|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29190888|PMID:29360161|PMID:29431189|PMID:29486991|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29731985|PMID:29752822|PMID:29785153|PMID:29922827|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30521987|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30638972|PMID:30661751|PMID:30675318|PMID:30720863|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31300551|PMID:31360874|PMID:31446535|PMID:31447099|PMID:31470354|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31841383|PMID:31843900|PMID:31871109|PMID:32019277|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32238468|PMID:32339256|PMID:32427313|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:33113089|PMID:33139182|PMID:33193564|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33964450|PMID:33980423|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34326862|PMID:34399810|PMID:34793666|PMID:34846068|PMID:35039564|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35762214|PMID:35806449|PMID:35884425|PMID:35980532|PMID:36003761|PMID:36175305|PMID:36207130|PMID:36243179|PMID:36446039|PMID:36451132|PMID:36627197|PMID:36978154|PMID:36980780|PMID:37436117|PMID:37937776|PMID:38061684|PMID:38136308|PMID:38355628|PMID:38874686|PMID:39272924|PMID:39999518|PMID:41109346|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:0111618	autosomal recessive spinocerebellar ataxia 8		ISO	RGD:1605949	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type	PMID:24556926|PMID:25085752|PMID:25326637|PMID:25741868|PMID:26283626|PMID:26467025|PMID:26564480|PMID:27106063|PMID:28492532|PMID:28779002|PMID:28794409|PMID:31642931|PMID:35264596|PMID:35806449
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:10534	stomach cancer		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:18288683|PMID:18302019|PMID:19333784|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21932393|PMID:22241545|PMID:22310028|PMID:23824750|PMID:23977390|PMID:24136930|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:28194609|PMID:28492532|PMID:28724667|PMID:28888541|PMID:29263802|PMID:2980694|PMID:30287823|PMID:30377213|PMID:31871109|PMID:36988593
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1115	sarcoma		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:17200668|PMID:17287723|PMID:18302019|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:22241545|PMID:22310028|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:28492532
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:11830	myopia		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26315354|PMID:28492532|PMID:29625052|PMID:31206626|PMID:31841383
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1324	lung cancer		ISO	RGD:1605949	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26023681|PMID:26467025|PMID:28319063|PMID:28492532|PMID:29625052|PMID:29785153|PMID:29922827|PMID:31159747|PMID:31447099|PMID:31619740|PMID:36207130|PMID:36451132|PMID:36980780
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1324	lung cancer		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:17200668|PMID:17287723|PMID:18288683|PMID:18302019|PMID:19333784|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21932393|PMID:22241545|PMID:22310028|PMID:23824750|PMID:23977390|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:28492532|PMID:30287823
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1324	lung cancer		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:18288683|PMID:18302019|PMID:19333784|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21932393|PMID:22241545|PMID:22310028|PMID:23824750|PMID:23977390|PMID:24136930|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26023681|PMID:26283626|PMID:26467025|PMID:28319063|PMID:28492532|PMID:29625052|PMID:29785153|PMID:29922827|PMID:30287823|PMID:31159747|PMID:31447099|PMID:31619740|PMID:36207130|PMID:36451132|PMID:36980780
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:24141787|PMID:31636395|PMID:31757951|PMID:35101336
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1459	hypothyroidism		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25085752|PMID:25741868|PMID:25980754|PMID:28492532|PMID:33471991|PMID:34326862|PMID:35610400
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1520	colon carcinoma		ISO	RGD:1605949	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:18053174|PMID:21285249|PMID:21365267|PMID:21618343|PMID:22692731|PMID:23977390|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28944238|PMID:30287823|PMID:30303537|PMID:3040479|PMID:30638972|PMID:31586400|PMID:31636395|PMID:32546565|PMID:33195396|PMID:33471991
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1520	colon carcinoma		ISO	RGD:1605949	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:18053174|PMID:21285249|PMID:21365267|PMID:21618343|PMID:22692731|PMID:23977390|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28944238|PMID:29522266|PMID:30287823|PMID:30303537|PMID:3040479|PMID:30638972|PMID:31586400|PMID:31636395|PMID:31911633|PMID:32546565|PMID:33195396|PMID:33471991
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1520	colon carcinoma		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:18053174|PMID:25085752|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:28492532|PMID:28779002|PMID:28944238|PMID:31586400|PMID:31636395|PMID:32546565|PMID:33195396|PMID:33471991|PMID:34326862
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31159747|PMID:31214711|PMID:31300551|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32068069|PMID:32295079|PMID:32339256|PMID:32566746|PMID:32832836|PMID:32854451|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384|PMID:35806449
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384|PMID:35806449
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33917078|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:35806449|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:34439348|PMID:34687117|PMID:35264596|PMID:35451682|PMID:35610400|PMID:35806449
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:36243179|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27907908|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:34439348|PMID:34687117
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:35264596|PMID:35451682|PMID:35610400|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:34439348|PMID:34687117|PMID:34793666|PMID:35263119|PMID:35264596|PMID:35451682|PMID:35610400|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:34399810|PMID:34439348|PMID:34687117|PMID:34793666|PMID:35263119|PMID:35264596|PMID:35451682|PMID:35610400|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25337756|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26787237|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27907908|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28454591|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29053726|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30979843|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31382929|PMID:31422574|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32012241|PMID:32019277|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:32885271|PMID:32947577|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33758026|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:34399810|PMID:34439348|PMID:34687117|PMID:34793666|PMID:34846068|PMID:35218119|PMID:35263119|PMID:35264596|PMID:35441217|PMID:35451682|PMID:35610400|PMID:35806449|PMID:36169650|PMID:36207130|PMID:36243179|PMID:36451132|PMID:36605468|PMID:36744932|PMID:36980780|PMID:36988593|PMID:37461096|PMID:37628606|PMID:37865086|PMID:37937776|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25326637|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26787237|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27907908|PMID:27978560|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28454591|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29053726|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30979843|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31382929|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33758026|PMID:33811135|PMID:33910496
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:34399810|PMID:34439348|PMID:34687117|PMID:34793666|PMID:34846068|PMID:35218119|PMID:35263119|PMID:35264596|PMID:35441217|PMID:35451682|PMID:35610400|PMID:35806449|PMID:36169650|PMID:36207130|PMID:36243179|PMID:36451132|PMID:36605468|PMID:36744932|PMID:36980780|PMID:36988593|PMID:37461096|PMID:37628606|PMID:37865086|PMID:37937776|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19863560|PMID:20091115|PMID:20412113|PMID:20582465|PMID:20722467|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25239263|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25794774|PMID:26057125|PMID:26094658|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26787237|PMID:26845104|PMID:26898890|PMID:26990772|PMID:27067391|PMID:27099641|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27783279|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28440294|PMID:28454591|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29053726|PMID:29190888|PMID:29338689|PMID:29431189|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29909963|PMID:29922827|PMID:30254378|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30337689|PMID:30521987|PMID:30720863|PMID:30792206|PMID:30890586|PMID:30979843|PMID:30982232|PMID:31206626|PMID:31382929|PMID:31428676|PMID:31447099|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31841383|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32242007|PMID:32338768|PMID:32339256|PMID:32427313|PMID:32546565|PMID:32546831|PMID:32566746|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32885271|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33646313|PMID:33811135|PMID:33917078|PMID:33964450|PMID:34092963|PMID:34113003|PMID:34326862|PMID:34399810|PMID:34793666|PMID:34846068|PMID:35264596|PMID:35438911|PMID:35585550|PMID:35610400|PMID:36169650|PMID:36243179|PMID:36627197|PMID:36744932|PMID:36988593|PMID:37461096|PMID:37686625|PMID:37937776|PMID:38196669|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1612	breast cancer		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20582465|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25239263|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25794774|PMID:25980754|PMID:26023681|PMID:26094658|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27067391|PMID:27099641|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27783279|PMID:27829436|PMID:27907908|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28319063|PMID:28380452|PMID:28440294|PMID:28492532|PMID:28495237|PMID:28580595|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28873162|PMID:28888541|PMID:29052111|PMID:29190888|PMID:29338689|PMID:29431189|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29922827|PMID:30086788|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30521987|PMID:30651582|PMID:30675318|PMID:30720863|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31382929|PMID:31428676|PMID:31447099|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31757951|PMID:31841383|PMID:31942411|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32339256|PMID:32427313|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32854451|PMID:32885271|PMID:32947577|PMID:33007869|PMID:33113089|PMID:33120919|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33646313|PMID:33811135|PMID:33910496|PMID:33964450|PMID:33980423|PMID:34092963|PMID:34113003|PMID:34326862|PMID:34522520|PMID:34793666|PMID:34846068|PMID:35171259|PMID:35264596|PMID:35438911|PMID:35610400|PMID:35806449|PMID:35980532|PMID:36207130|PMID:36243179|PMID:36451132|PMID:36627197|PMID:36980780|PMID:36988593|PMID:37444530|PMID:37461096|PMID:37686625|PMID:38874686|PMID:38890714|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098869
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:7240710	20260812	OMIM			
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27624329|PMID:27783279|PMID:27829436|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:30890586|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31586400|PMID:31636395|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32295079|PMID:32339256|PMID:32566746|PMID:33139182|PMID:33471991
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33139182|PMID:33471991
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31575519|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33139182|PMID:33471991
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3	PMID:100849|PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:22692731|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:27829436|PMID:27878467|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29335925|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29478780|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30665703|PMID:30720863|PMID:30833416|PMID:30890586|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31757951|PMID:31768816|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32522261|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33917078|PMID:33980423|PMID:34113003|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34846068|PMID:35263119|PMID:35264596|PMID:35610400|PMID:36605468|PMID:36988593|PMID:37239058
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22241545|PMID:22692731|PMID:23110154|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27449771|PMID:27553368|PMID:27595995|PMID:27624329|PMID:27829436|PMID:27878467|PMID:28008555|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29335925|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30337689|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30833416|PMID:30890586|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31721781|PMID:31757951|PMID:31768816|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32012241|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32522261|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34034685|PMID:34113003|PMID:34284872|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34846068|PMID:35263119|PMID:35264596|PMID:35610400|PMID:36605468|PMID:36988593|PMID:37013556|PMID:37239058
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3	PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22241545|PMID:22692731|PMID:23110154|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935836|PMID:23977390|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27449771|PMID:27553368|PMID:27595995|PMID:27624329|PMID:27829436|PMID:27878467|PMID:28008555|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29335925|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29485843|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30337689|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30833416|PMID:30890586|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31721781|PMID:31757951|PMID:31768816|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32012241|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34034685|PMID:34113003|PMID:34284872|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34846068|PMID:35263119|PMID:35264596|PMID:35610400|PMID:36605468|PMID:36988593|PMID:37013556|PMID:37239058
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3	PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22241545|PMID:22692731|PMID:23110154|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935836|PMID:23977390|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27449771|PMID:27553368|PMID:27595995|PMID:27624329|PMID:27829436|PMID:27878467|PMID:28008555|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29335925|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30337689|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30833416|PMID:30890586|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31721781|PMID:31757951|PMID:31768816|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32012241|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34034685|PMID:34113003|PMID:34284872|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34846068|PMID:35263119|PMID:35264596|PMID:35610400|PMID:36605468|PMID:36988593|PMID:37013556|PMID:37239058
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3	PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17576681|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22241545|PMID:22692731|PMID:22895193|PMID:23110154|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934836|PMID:23935836|PMID:23977390|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25337756|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27553368|PMID:27595995|PMID:27624329|PMID:27631815|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28580595|PMID:28678401|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29053726|PMID:29335925|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30337689|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30890586|PMID:30982232|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31312277|PMID:31422574|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31721781|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32012241|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32238468|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33758026|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34034685|PMID:34113003|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34687117|PMID:34793666|PMID:34846068|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35441217|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35853885|PMID:36003761|PMID:36169650|PMID:36175305|PMID:36207130|PMID:36243179|PMID:36451132|PMID:36605468|PMID:36744932|PMID:36978154|PMID:36980780|PMID:36988593|PMID:37013556|PMID:37239058|PMID:37628606|PMID:37937776|PMID:38153744|PMID:38355628|PMID:39251783|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3	PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17576681|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22241545|PMID:22692731|PMID:22895193|PMID:23110154|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934836|PMID:23935836|PMID:23977390|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25337756|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27553368|PMID:27595995|PMID:27624329|PMID:27631815|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28580595|PMID:28678401|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29053726|PMID:29335925|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30337689|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30890586|PMID:30982232|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31312277|PMID:31422574|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31721781|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32012241|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32238468|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32720237|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33758026|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34034685|PMID:34113003|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34687117|PMID:34793666|PMID:34846068|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35441217|PMID:35534704|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35853885|PMID:36003761|PMID:36169650|PMID:36175305|PMID:36207130|PMID:36243179|PMID:36451132|PMID:36605468|PMID:36744932|PMID:36978154|PMID:36980780|PMID:36988593|PMID:37013556|PMID:37239058|PMID:37628606|PMID:37937776|PMID:38355628|PMID:39251783|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:100849|PMID:1378620|PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17576681|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20925782|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21635267|PMID:21932393|PMID:22241545|PMID:22692731|PMID:22895193|PMID:23110154|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934836|PMID:23935836|PMID:23977390|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26315534|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27553368|PMID:27595995|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28580595|PMID:28678401|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29053726|PMID:29335925|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30890586|PMID:30982232|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31312277|PMID:31336395|PMID:31422574|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31721781|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32012241|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32238468|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33758026|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34357101|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34687117|PMID:34793666|PMID:34846068|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35441217|PMID:35534704|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35853885|PMID:36003761|PMID:36169650|PMID:36175305|PMID:36207130|PMID:36243179|PMID:36451132|PMID:36605468|PMID:36744932|PMID:36978154|PMID:36980780|PMID:36988593|PMID:37013556|PMID:37239058|PMID:37628606|PMID:37937776|PMID:38136308|PMID:38355628|PMID:39251783|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17576681|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20925782|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21635267|PMID:21932393|PMID:22241545|PMID:22692731|PMID:22895193|PMID:23110154|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934836|PMID:23935836|PMID:23977390|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26315534|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27553368|PMID:27595995|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28580595|PMID:28678401|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29053726|PMID:29335925|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30890586|PMID:30982232|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31312277|PMID:31336395|PMID:31422574|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31721781|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32012241|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32238468|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33758026|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34357101|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34687117|PMID:34793666|PMID:34846068|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35441217|PMID:35534704|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35853885|PMID:36003761|PMID:36169650|PMID:36175305|PMID:36207130|PMID:36243179|PMID:36451132|PMID:36605468|PMID:36627197|PMID:36744932|PMID:36898365|PMID:36978154|PMID:36980780|PMID:36988593|PMID:37013556|PMID:37239058|PMID:37628606|PMID:37937776|PMID:38136308|PMID:38355628
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3	PMID:39251783|PMID:39999518|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic Cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 | ClinVar Annotator: match by term: pancreatic cancer	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20412113|PMID:20925782|PMID:20927582|PMID:21165770|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21635267|PMID:21932393|PMID:22241545|PMID:22310028|PMID:22692731|PMID:23341105|PMID:23448497|PMID:23555315|PMID:23824750|PMID:23935381|PMID:23935836|PMID:24136930|PMID:24141787|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24556926|PMID:24728327|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25575445|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25980754|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26757417|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27433846|PMID:27443514|PMID:27631815|PMID:27666373|PMID:27779110|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28492532|PMID:28524162|PMID:28678401|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29486991|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29922827|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30541756|PMID:30584090|PMID:30638972|PMID:30661751|PMID:30720863|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31360874|PMID:31447099|PMID:31470354|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31841383|PMID:31843900|PMID:31871109|PMID:32012241|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32238468|PMID:32339256|PMID:32427313|PMID:32522261|PMID:32546565|PMID:32832836|PMID:32868316|PMID:32885271|PMID:32980694|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33558524|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34399810|PMID:34793666|PMID:34846068|PMID:35039564|PMID:35171259|PMID:35258993|PMID:35263119|PMID:35264596|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35884425|PMID:36003761|PMID:36169650|PMID:36175305|PMID:36243179|PMID:36627197|PMID:36744932|PMID:36978154|PMID:37733863|PMID:37937776|PMID:38061684|PMID:38136308|PMID:38196669|PMID:38355628|PMID:38476606|PMID:38874686|PMID:39251783|PMID:39272924|PMID:39427061|PMID:39999518|PMID:40967221|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic Cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 | ClinVar Annotator: match by term: pancreatic cancer	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20412113|PMID:20925782|PMID:20927582|PMID:21165770|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21635267|PMID:21932393|PMID:22241545|PMID:22310028|PMID:22692731|PMID:23341105|PMID:23448497|PMID:23555315|PMID:23824750|PMID:23935381|PMID:24136930|PMID:24141787|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24556926|PMID:24728327|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25575445|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25980754|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26757417|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27433846|PMID:27443514|PMID:27631815|PMID:27666373|PMID:27779110|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28492532|PMID:28524162|PMID:28678401|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29486991|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29922827|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30541756|PMID:30584090|PMID:30638972|PMID:30661751|PMID:30720863|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31360874|PMID:31447099|PMID:31470354|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31841383|PMID:31843900|PMID:31871109|PMID:32012241|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32238468|PMID:32339256|PMID:32427313|PMID:32522261|PMID:32546565|PMID:32832836|PMID:32868316|PMID:32885271|PMID:32980694|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33558524|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34399810|PMID:34793666|PMID:34846068|PMID:35039564|PMID:35171259|PMID:35258993|PMID:35263119|PMID:35264596|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35884425|PMID:36003761|PMID:36169650|PMID:36175305|PMID:36243179|PMID:36627197|PMID:36744932|PMID:36978154|PMID:37733863|PMID:37937776|PMID:38061684|PMID:38136308|PMID:38196669|PMID:38355628|PMID:38476606|PMID:38874686|PMID:39251783|PMID:39272924|PMID:39427061|PMID:39999518|PMID:40967221|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic Cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 | ClinVar Annotator: match by term: pancreatic cancer	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20412113|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22241545|PMID:22310028|PMID:22692731|PMID:23110154|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25980754|PMID:26023681|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27553368|PMID:27595995|PMID:27631815|PMID:27779110|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28135048|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28423363|PMID:28492532|PMID:28524162|PMID:28528518|PMID:2853339|PMID:28678401|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30541756|PMID:30580288|PMID:30584090|PMID:30613976|PMID:30638972|PMID:30661751|PMID:30665703|PMID:30720863|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31054147|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31360874|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31470354|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31841383|PMID:31843900|PMID:31871109|PMID:31921681|PMID:32012241|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32238468|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32522261|PMID:32546565|PMID:32546831|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33558524|PMID:33758026|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34196900|PMID:34326862|PMID:34399810|PMID:34439348|PMID:34793666|PMID:34846068|PMID:35039564|PMID:35171259|PMID:35258993|PMID:35263119|PMID:35264596|PMID:35438911|PMID:35441217|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35884425|PMID:36003761|PMID:36169650|PMID:36175305|PMID:36207130|PMID:36243179|PMID:36451132|PMID:36600573|PMID:36627197|PMID:36744932|PMID:36978154|PMID:36980780|PMID:36988593|PMID:37436117|PMID:37937776|PMID:38061684|PMID:38136308|PMID:38196669|PMID:38355628|PMID:38476606|PMID:38874686|PMID:39251783|PMID:39272924|PMID:39409938|PMID:39427061|PMID:39999518|PMID:40638876|PMID:40967221|PMID:41109346|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic Cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 | ClinVar Annotator: match by term: pancreatic cancer	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19763884|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:23110154|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27553368|PMID:27595995|PMID:27631815|PMID:27779110|PMID:27907908|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28423363|PMID:28492532|PMID:28524162|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29909963|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30638972|PMID:30661751|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30890586|PMID:30982232|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31447099|PMID:31467304|PMID:31470354|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31841383|PMID:31843900|PMID:31871109|PMID:32012241|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32238468|PMID:32255556|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33674644|PMID:33758026|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34196900|PMID:34204722|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34793666|PMID:34846068|PMID:35039564|PMID:35171259|PMID:35258993|PMID:35263119|PMID:35264596|PMID:35438911|PMID:35441217|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35884425|PMID:35980532|PMID:36003761|PMID:36169650|PMID:36175305|PMID:36207130|PMID:36243179|PMID:36446039|PMID:36451132|PMID:36600573|PMID:36627197|PMID:36744932|PMID:36978154|PMID:36980780|PMID:36988593|PMID:37436117|PMID:37937776|PMID:38061684|PMID:38136308|PMID:38355628|PMID:38476606|PMID:38874686|PMID:39272924|PMID:39409938|PMID:39427061|PMID:39999518|PMID:40967221|PMID:41109346|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic Cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 | ClinVar Annotator: match by term: pancreatic cancer	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:23110154|PMID:23448497|PMID:23555315|PMID:23824750|PMID:23935381|PMID:23935836|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24448499|PMID:24485656|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25356972|PMID:25428789|PMID:25479140|PMID:25575445|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25980754|PMID:26023681|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27631815|PMID:27779110|PMID:27907908|PMID:27930734|PMID:27978560|PMID:28152038|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28423363|PMID:28492532|PMID:28524162|PMID:28678401|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29486991|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29731985|PMID:29752822|PMID:29785153|PMID:29922827|PMID:30128536|PMID:30287823|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30638972|PMID:30661751|PMID:30675318|PMID:30720863|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31300551|PMID:31360874|PMID:31447099|PMID:31470354|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31841383|PMID:31843900|PMID:31871109|PMID:31921681|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32238468|PMID:32339256|PMID:32427313|PMID:32522261|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33558524|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34196900|PMID:34326862|PMID:34399810|PMID:34793666|PMID:34846068|PMID:35039564|PMID:35171259|PMID:35258993|PMID:35263119|PMID:35264596|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35762214|PMID:35884425|PMID:35980532|PMID:36003761|PMID:36175305|PMID:36207130|PMID:36243179|PMID:36446039|PMID:36451132|PMID:36627197|PMID:36978154|PMID:36980780|PMID:37436117|PMID:37937776|PMID:38061684|PMID:38136308|PMID:38355628|PMID:38874686|PMID:39272924|PMID:39427061|PMID:39999518|PMID:41109346|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:1605949	D	RGD:2325776|PMID:19264984	20100609	RGD		DNA:nonsense mutations:exon:172_175del, 3116del, 3256C>T (human)	
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1798	pancreatic endocrine carcinoma		ISO	RGD:1605949	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:28492532|PMID:28724667
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:1826	epilepsy		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29522266|PMID:29758562|PMID:29922827|PMID:29982661
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:219	colon cancer		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:21409391|PMID:23555315|PMID:24448499|PMID:25085752|PMID:25186627|PMID:25225577|PMID:25479140|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26689913|PMID:26976419|PMID:28492532|PMID:28767289|PMID:28779002|PMID:28873162|PMID:30541756|PMID:32546565|PMID:32885271|PMID:33471991|PMID:34326862|PMID:35263119|PMID:37937776
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:2234	focal epilepsy		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29522266|PMID:29758562|PMID:29922827|PMID:29982661
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:17200668|PMID:17287723|PMID:18302019|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:22241545|PMID:22310028|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:28492532
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:2394	ovarian cancer		ISO	RGD:1605949	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:17200668|PMID:17200671|PMID:17287723|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:22241545|PMID:22310028|PMID:23448497|PMID:23471749|PMID:23787919|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25225577|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25741868|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28158555|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29052111|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29625052|PMID:29753700|PMID:29909963|PMID:29961768|PMID:30287823|PMID:30322717|PMID:30665703|PMID:31090900|PMID:31159747|PMID:31263054|PMID:31422574|PMID:31447099|PMID:31575519|PMID:31636395|PMID:31757951|PMID:31841383|PMID:31843900|PMID:32012241|PMID:32081490|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32546565|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:33139182|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33758026|PMID:33811135|PMID:34113003|PMID:34585473|PMID:35441217|PMID:35853885|PMID:38476606|PMID:40967221
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:2394	ovarian cancer		ISO	RGD:1605949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:17200668|PMID:17200671|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:21618343|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23787919|PMID:24206657|PMID:24415441|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25225577|PMID:25356972|PMID:25452441|PMID:25525159|PMID:25575445|PMID:25741868|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27978560|PMID:28008555|PMID:28158555|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28864920|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29625052|PMID:29753700|PMID:29909963|PMID:29961768|PMID:30287823|PMID:30322717|PMID:30665703|PMID:31090900|PMID:31159747|PMID:31263054|PMID:31447099|PMID:31575519|PMID:31636395|PMID:31757951|PMID:31841383|PMID:31843900|PMID:32012241|PMID:32081490|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32546565|PMID:32581362|PMID:32832836|PMID:32853339|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33758026|PMID:33811135|PMID:34113003|PMID:34585473|PMID:35441217|PMID:35853885|PMID:38476606|PMID:40967221
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:2394	ovarian cancer		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:18302019|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:22241545|PMID:22310028|PMID:24136930|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:26467025|PMID:26681312|PMID:27978560|PMID:28492532|PMID:28724667|PMID:28825143|PMID:29387807|PMID:29506128|PMID:29922827|PMID:30287823|PMID:31768816|PMID:32546565|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33811135|PMID:34585473|PMID:35853885|PMID:36243179|PMID:36988593
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:17200668|PMID:20091115|PMID:22241545|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26689913|PMID:26692951|PMID:26898890|PMID:28440294|PMID:28492532|PMID:28580595|PMID:28767289|PMID:28779002|PMID:31468469|PMID:31636395|PMID:32068069|PMID:32091409|PMID:32546565|PMID:32625235|PMID:32659497|PMID:32885271|PMID:33113089|PMID:33471991|PMID:33563768|PMID:33588785|PMID:34326862|PMID:36271373
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:3010	lobular neoplasia		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: lobular carcinoma in situ	PMID:26845104|PMID:28492532
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:3275	thymoma		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:17200668|PMID:18288683|PMID:19333784|PMID:21113654|PMID:21932393|PMID:23824750|PMID:23977390|PMID:25741868|PMID:26283626|PMID:28492532|PMID:30287823
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:3302	chordoma		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chordoma	PMID:25741868|PMID:26283626|PMID:28492532|PMID:31636395|PMID:33471991|PMID:35762214
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:3459	breast carcinoma		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18288683|PMID:18302019|PMID:20927582|PMID:21165770|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:23448497|PMID:23555315|PMID:23824750|PMID:23935836|PMID:24136930|PMID:24206657|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26976419|PMID:28319063|PMID:28492532|PMID:28767289|PMID:28779002|PMID:28873162|PMID:30255452|PMID:30309218|PMID:30337689|PMID:30426508|PMID:30541756|PMID:31159747|PMID:31586400|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31843900|PMID:32133419|PMID:32546565|PMID:32885271|PMID:33169439|PMID:33471991|PMID:33964450|PMID:34326862|PMID:34846068|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35438911|PMID:37937776|PMID:39402389
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:3650	lactic acidosis		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868|PMID:26580448|PMID:28492532|PMID:28678401|PMID:33471991|PMID:35449021
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1605949	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Thyroid gland papillary carcinoma	PMID:25085752|PMID:25741868|PMID:28492532
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1605949	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Ovarian carcinoma	PMID:17200671|PMID:20927582|PMID:21165770|PMID:21365267|PMID:25741868|PMID:26283626|PMID:26296701|PMID:28492532
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:4362	cervical cancer		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:17200668|PMID:17287723|PMID:18302019|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:22241545|PMID:22310028|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:28492532
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17200668|PMID:17287723|PMID:18302019|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:22241545|PMID:22310028|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:28492532
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:4606	bile duct cancer		ISO	RGD:1605949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bile duct cancer	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:1605949	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:25741868|PMID:26283626|PMID:28492532|PMID:28664506|PMID:32546565
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:17200668|PMID:17287723|PMID:18302019|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:22241545|PMID:22310028|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:28492532
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17200668|PMID:17287723|PMID:18302019|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:22241545|PMID:22310028|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:28492532
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:7240710	20260812	OMIM			
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35806449|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30833416|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33674644|PMID:33917078|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33674644|PMID:33917078|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:34026625|PMID:34113003|PMID:35264596|PMID:35610400|PMID:35806449|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30638972|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33120919|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:34026625|PMID:34113003|PMID:34399810|PMID:35089076|PMID:35264596|PMID:35610400|PMID:35806449|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32885271|PMID:32980694|PMID:32997802|PMID:33120919|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:34026625|PMID:34113003|PMID:34399810|PMID:34846068|PMID:35089076|PMID:35264596|PMID:35610400|PMID:35806449|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30651582|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31942411|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33120919|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34326862|PMID:34399810|PMID:34846068|PMID:35089076|PMID:35264596|PMID:35610400|PMID:35806449|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30651582|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31942411|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33120919|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34204722|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34608183|PMID:34846068|PMID:35089076|PMID:35264596|PMID:35610400|PMID:35806449|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100849|PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30651582|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31942411|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32238468|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33120919|PMID:33127389|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34204722|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34608183|PMID:34793666|PMID:34846068|PMID:35089076|PMID:35171259|PMID:35264596|PMID:35610400|PMID:35676859|PMID:35762214|PMID:35806449|PMID:36605468|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32133419|PMID:32238468|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34204722|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34608183|PMID:34793666|PMID:34846068|PMID:35089076|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35610400|PMID:35676859|PMID:35762214|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100849|PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30541756|PMID:30552643|PMID:30651582|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31942411|PMID:32019277|PMID:32041954|PMID:32068069
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32081490|PMID:32133419|PMID:32238468|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34204722|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34608183|PMID:34793666|PMID:34846068|PMID:34946951|PMID:35089076|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35610400|PMID:35676859|PMID:35762214|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100849|PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30541756|PMID:30552643|PMID:30651582|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:31942411|PMID:32019277|PMID:32041954
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32068069|PMID:32081490|PMID:32133419|PMID:32238468|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34204722|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34608183|PMID:34793666|PMID:34846068|PMID:34946951|PMID:35089076|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35610400|PMID:35676859|PMID:35762214|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100849|PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30541756|PMID:30552643|PMID:30651582|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31942411|PMID:32019277|PMID:32041954|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32238468|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32365798|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34204722|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34608183|PMID:34793666|PMID:34846068|PMID:34946951|PMID:35089076|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35610400|PMID:35676859|PMID:35762214|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:37239058|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100849|PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30541756|PMID:30552643|PMID:30651582|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31921681|PMID:31942411|PMID:32019277|PMID:32041954|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32238468|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32365798|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34204722|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34608183|PMID:34793666|PMID:34846068|PMID:34946951|PMID:35089076|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35610400|PMID:35676859|PMID:35762214|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:37239058|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100849|PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30541756|PMID:30552643|PMID:30651582|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31642931|PMID:31666926|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31921681|PMID:31942411|PMID:32019277|PMID:32041954|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32238468|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32365798|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34608183|PMID:34793666|PMID:34846068|PMID:34946951|PMID:35089076|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35610400|PMID:35676859|PMID:35762214|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:37239058|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31921681|PMID:31942411|PMID:32019277|PMID:32041954|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32238468|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32365798|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34608183|PMID:34793666|PMID:34846068|PMID:34946951|PMID:35089076|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35610400|PMID:35676859|PMID:35762214|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:37239058|PMID:37415201|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100849|PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25337756|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26787237|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28454591|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29053726|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30541756|PMID:30552643|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30680046|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30979843|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31921681|PMID:31942411|PMID:32019277|PMID:32041954|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32238468|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32365798|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33646313|PMID:33674644|PMID:33758026|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34608183|PMID:34687117|PMID:34793666|PMID:34846068|PMID:34946951|PMID:35087742|PMID:35089076|PMID:35171259|PMID:35218119|PMID:35263119|PMID:35264596|PMID:35441217|PMID:35534704|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35762214|PMID:35806449|PMID:36003761|PMID:36045058|PMID:36169650|PMID:36243179|PMID:36605468|PMID:36744932|PMID:36978154|PMID:36988593|PMID:37239058|PMID:37415201|PMID:37461096|PMID:37628606|PMID:37686625|PMID:37937776|PMID:38355628|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100849|PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25337756|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26787237|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28454591|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29053726|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30541756|PMID:30552643|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30680046|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30979843|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31921681|PMID:31942411|PMID:32012241|PMID:32019277|PMID:32041954|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32238468|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32365798|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33646313|PMID:33674644|PMID:33758026|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34113003|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34608183|PMID:34687117|PMID:34793666|PMID:34846068|PMID:34946951|PMID:35087742|PMID:35089076|PMID:35171259|PMID:35218119|PMID:35263119|PMID:35264596|PMID:35441217|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35762214|PMID:35806449|PMID:35853885|PMID:36003761|PMID:36045058|PMID:36169650|PMID:36243179|PMID:36605468|PMID:36744932|PMID:36978154|PMID:36988593|PMID:37239058|PMID:37415201|PMID:37461096|PMID:37628606|PMID:37686625|PMID:37937776|PMID:38153744|PMID:38355628|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:100849|PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23423317|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23649399|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25099585|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25337756|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:2598075|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26787237|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28454591|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29053726|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30541756|PMID:30552643|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30680046|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30979843|PMID:30982232|PMID:30995915|PMID:31089269
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31921681|PMID:31942411|PMID:32012241|PMID:32019277|PMID:32041954|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32238468|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32365798|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33646313|PMID:33674644|PMID:33758026|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34113003|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34608183|PMID:34687117|PMID:34793666|PMID:34846068|PMID:34946951|PMID:35087742|PMID:35089076|PMID:35171259|PMID:35218119|PMID:35263119|PMID:35264596|PMID:35441217|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35762214|PMID:35806449|PMID:35853885|PMID:35980532|PMID:36003761|PMID:36045058|PMID:36169650|PMID:36243179|PMID:36605468|PMID:36744932|PMID:36978154|PMID:36988593|PMID:37239058|PMID:37415201|PMID:37461096|PMID:37628606|PMID:37686625|PMID:37937776|PMID:38153744|PMID:38355628|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:100849|PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20925782|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21635267|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23423317|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23649399|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25099585|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:2598075|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26315534|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26787237|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28454591|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28727289|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29053726|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338072|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30541756|PMID:30552643|PMID:30613976|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30680046
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:30715675|PMID:30720863|PMID:30792206|PMID:30827823|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30979843|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31336395|PMID:31360874|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31468469|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31721781|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31921681|PMID:31942411|PMID:32012241|PMID:32019277|PMID:32041954|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32238468|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32365798|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32625235|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33384714|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33563768|PMID:33588785|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33758026|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34357101|PMID:34382369|PMID:34399810|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34608183|PMID:34687117|PMID:34793666|PMID:34846068|PMID:34946951|PMID:35087742|PMID:35089076|PMID:35171259|PMID:35218119|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35441217|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35734982|PMID:35762214|PMID:35806449|PMID:35853885|PMID:35954363|PMID:35980532|PMID:36003761|PMID:36045058|PMID:36169650|PMID:36175305|PMID:36243179|PMID:36271373|PMID:36605468|PMID:36622392|PMID:36627197|PMID:36744932|PMID:36978154|PMID:36988593|PMID:37013556|PMID:37239058|PMID:37415201|PMID:37461096|PMID:37628606|PMID:37686625|PMID:37937776|PMID:38153744|PMID:38355628|PMID:38476606|PMID:39251783|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20925782|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21635267|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23423317|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25099585|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25326637|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25833843|PMID:25897114|PMID:25959805|PMID:2598075|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26315534|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26787237|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28454591|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28727289|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29053726|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338072|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30541756|PMID:30552643|PMID:30613976|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:30680046|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30827823|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30979843|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31131953|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31336395|PMID:31360874|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31468469|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31721781|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31921681|PMID:31942411|PMID:32012241|PMID:32019277|PMID:32041954|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32238468|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32365798|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32625235|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33563768|PMID:33588785|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33758026|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34357101|PMID:34382369|PMID:34399810|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34608183|PMID:34687117|PMID:34793666|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35087742|PMID:35089076|PMID:35171259|PMID:35218119|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35441217|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35734982|PMID:35762214|PMID:35806449|PMID:35853885|PMID:35954363|PMID:35980532|PMID:36003761|PMID:36045058|PMID:36169650|PMID:36175305|PMID:36243179|PMID:36271373|PMID:36605468|PMID:36622392|PMID:36627197|PMID:36744932|PMID:36978154|PMID:36988593|PMID:37013556|PMID:37239058|PMID:37415201|PMID:37461096|PMID:37628606|PMID:37686625|PMID:37937776|PMID:38153744|PMID:38355628|PMID:38476606|PMID:39251783|PMID:39999518|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20722467|PMID:20852946|PMID:20925782|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21635267|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:23302520|PMID:23341105|PMID:23423317|PMID:23448497|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25794774|PMID:25897114|PMID:2598075|PMID:25980754|PMID:26057125|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26787237|PMID:26845104|PMID:26848151|PMID:26898890|PMID:26911350|PMID:26976419|PMID:26990772|PMID:27067391|PMID:27099641|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27631815|PMID:27779110|PMID:27783279|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28440294|PMID:28454591|PMID:28492532|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29053726|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29909963|PMID:29922827|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30377213|PMID:30426508|PMID:30472649|PMID:30521987|PMID:30541756|PMID:30552643|PMID:30638972|PMID:30661751|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30883245|PMID:30890586|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31360874|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31768816|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31871109|PMID:32012241|PMID:32019277|PMID:32068069|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32238468|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32427313|PMID:32546565|PMID:32546831|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32832836|PMID:32853339|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33128190|PMID:33139182|PMID:33193564|PMID:33195396|PMID:33224012|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33646313|PMID:33718150|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34092963|PMID:34113003|PMID:34326862|PMID:34399810|PMID:34439348|PMID:34601666|PMID:34793666|PMID:34846068|PMID:35039564|PMID:35171259|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35449021|PMID:35451682|PMID:35534704|PMID:35585550
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:35610400|PMID:35626031|PMID:35676859|PMID:35710434|PMID:35734982|PMID:35853885|PMID:35954363|PMID:35980532|PMID:36003761|PMID:36169650|PMID:36175305|PMID:36243179|PMID:36315513|PMID:36600573|PMID:36627197|PMID:36744932|PMID:36898365|PMID:36978154|PMID:36988593|PMID:37461096|PMID:37507557|PMID:37686625|PMID:37937776|PMID:38061684|PMID:38153744|PMID:38196669|PMID:38355628|PMID:38476606|PMID:39251783|PMID:39272924|PMID:39402389|PMID:39409938|PMID:39999518|PMID:40257527|PMID:40967221|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:2241545|PMID:22692731|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23423317|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25794774|PMID:25897114|PMID:2598075|PMID:25980754|PMID:26057125|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26787237|PMID:26845104|PMID:26848151|PMID:26898890|PMID:26911350|PMID:26976419|PMID:26990772|PMID:27067391|PMID:27099641|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27631815|PMID:27666373|PMID:27779110|PMID:27783279|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28135048|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28423363|PMID:28440294|PMID:28454591|PMID:28492532|PMID:28524162|PMID:28528518|PMID:2853339|PMID:28580595|PMID:28664506|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29053726|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29909963|PMID:29922827|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30377213|PMID:30426508|PMID:30521987|PMID:30541756|PMID:30552643|PMID:30580288|PMID:30613976|PMID:30638972|PMID:30661751|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30883245|PMID:30890586|PMID:30979843|PMID:30982232|PMID:31054147|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31360874|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31768816|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31871109|PMID:31921681|PMID:32012241|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32238468|PMID:32242007|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32546565|PMID:32546831|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33128190|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33224012|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33646313|PMID:33718150|PMID:33758026|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34092963|PMID:34113003|PMID:34326862|PMID:34399810|PMID:34439348
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:34601666|PMID:34793666|PMID:34846068|PMID:35039564|PMID:35171259|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35441217|PMID:35449021|PMID:35451682|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35710434|PMID:35734982|PMID:35806449|PMID:35853885|PMID:35954363|PMID:35980532|PMID:36003761|PMID:36169650|PMID:36175305|PMID:36243179|PMID:36315513|PMID:36600573|PMID:36627197|PMID:36744932|PMID:36898365|PMID:36978154|PMID:36988593|PMID:37436117|PMID:37461096|PMID:37507557|PMID:37686625|PMID:37733863|PMID:37937776|PMID:38061684|PMID:38153744|PMID:38196669|PMID:38355628|PMID:38476606|PMID:38874686|PMID:39251783|PMID:39272924|PMID:39402389|PMID:39409938|PMID:39999518|PMID:40257527|PMID:40638876|PMID:40967221|PMID:41109346|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20122277|PMID:20153123|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:2241545|PMID:22692731|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23423317|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26787237|PMID:26845104|PMID:26898890|PMID:26911350|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27631815|PMID:27666373|PMID:27779110|PMID:27783279|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28454591|PMID:28492532|PMID:28524162|PMID:28528518|PMID:2853339|PMID:28580595|PMID:28664506|PMID:28709830|PMID:28724667|PMID:28727289|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29053726|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29909963|PMID:29922827|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30377213|PMID:30426508|PMID:30541756|PMID:30552643|PMID:30580288|PMID:30613976|PMID:30638972|PMID:30661751|PMID:30665703|PMID:30680046|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30979843|PMID:30982232|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31768816|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31871109|PMID:31921681|PMID:32012241|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32238468|PMID:32242007|PMID:32255556|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32761968|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33224012|PMID:33309985|PMID:33471991|PMID:33646313
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:33674644|PMID:33718150|PMID:33758026|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34204722|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34601666|PMID:34793666|PMID:34846068|PMID:35039564|PMID:35171259|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35441217|PMID:35449021|PMID:35451682|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35710434|PMID:35734982|PMID:35853885|PMID:35954363|PMID:35980532|PMID:36003761|PMID:36169650|PMID:36175305|PMID:36243179|PMID:36600573|PMID:36627197|PMID:36744932|PMID:36978154|PMID:36988593|PMID:37436117|PMID:37444530|PMID:37461096|PMID:37507557|PMID:37686625|PMID:37733863|PMID:37937776|PMID:38061684|PMID:38153744|PMID:38355628|PMID:38476606|PMID:38874686|PMID:38890714|PMID:39272924|PMID:39409938|PMID:39999518|PMID:40638876|PMID:40967221|PMID:41109346|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:2241545|PMID:22692731|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23423317|PMID:23448497|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26898890|PMID:26911350|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27631815|PMID:27666373|PMID:27779110|PMID:27783279|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28158555|PMID:28194609|PMID:28259476|PMID:28279176|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28492532|PMID:28524162|PMID:28528518|PMID:2853339|PMID:28580595|PMID:28664506|PMID:28709830|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:29052111|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29922827|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30377213|PMID:30426508|PMID:30521987|PMID:30541756|PMID:30552643|PMID:30580288|PMID:30613976|PMID:30638972|PMID:30651582|PMID:30661751|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31428676|PMID:31467304|PMID:31468469|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31768816|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31871109|PMID:31921681|PMID:31942411|PMID:32012241|PMID:32019277|PMID:32068069|PMID:32091409|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32238468|PMID:32339256|PMID:32408270|PMID:32427313|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32625235|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33224012|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33563768|PMID:33588785|PMID:33646313|PMID:33674644|PMID:33718150|PMID:33811135|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34092963|PMID:34113003|PMID:34326862|PMID:34399810|PMID:34439348|PMID:34601666|PMID:34793666
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:34846068|PMID:35039564|PMID:35171259|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35449021|PMID:35451682|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35710434|PMID:35734982|PMID:35762214|PMID:35806449|PMID:35853885|PMID:35954363|PMID:35980532|PMID:36003761|PMID:36175305|PMID:36243179|PMID:36271373|PMID:36600573|PMID:36623239|PMID:36627197|PMID:36978154|PMID:36988593|PMID:37436117|PMID:37507557|PMID:37685988|PMID:37686625|PMID:37733863|PMID:37937776|PMID:38061684|PMID:38153744|PMID:38355628|PMID:38476606|PMID:38874686|PMID:39272924|PMID:39409938|PMID:39999518|PMID:40638876|PMID:41109346|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17200668|PMID:17287723|PMID:18288683|PMID:18302019|PMID:19333784|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21932393|PMID:22241545|PMID:22310028|PMID:23824750|PMID:23977390|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:28492532|PMID:30287823
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:17200672|PMID:25085752|PMID:25741868|PMID:26467025|PMID:26681312|PMID:28492532|PMID:30661751|PMID:30890586|PMID:31589614|PMID:35449021|PMID:35626031|PMID:38061684
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:6741	bilateral breast cancer		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: bilateral breast cancer	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:26845104|PMID:28492532
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17200668|PMID:17287723|PMID:18302019|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:22241545|PMID:22310028|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:28492532
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:768	retinoblastoma		ISO	RGD:1605949	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Retinoblastoma	PMID:23555315|PMID:25085752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28873162|PMID:32832836|PMID:32868316
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:7998	hyperthyroidism		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25186627|PMID:25741868|PMID:28492532|PMID:31636395
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:865	vasculitis		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868|PMID:26580448|PMID:28492532|PMID:28678401|PMID:33471991|PMID:35449021
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:21409391|PMID:23555315|PMID:24448499|PMID:25085752|PMID:25186627|PMID:25225577|PMID:25479140|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26689913|PMID:26976419|PMID:28492532|PMID:28767289|PMID:28779002|PMID:28873162|PMID:30541756|PMID:32546565|PMID:32885271|PMID:33471991|PMID:34326862|PMID:35263119|PMID:37937776
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9000590	Dyspnea		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25741868|PMID:26580448|PMID:28492532|PMID:28678401|PMID:33471991|PMID:35449021
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:21409391|PMID:23555315|PMID:24448499|PMID:25085752|PMID:25186627|PMID:25225577|PMID:25479140|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26689913|PMID:26976419|PMID:28492532|PMID:28767289|PMID:28779002|PMID:28873162|PMID:30541756|PMID:32546565|PMID:32885271|PMID:33471991|PMID:34326862|PMID:35263119|PMID:37937776
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:33471991|PMID:35264596|PMID:35534704
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605949	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9003674	Chest Pain		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chest pain	PMID:25741868|PMID:26580448|PMID:28492532|PMID:28678401|PMID:33471991|PMID:35449021
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9003824	Infectious Encephalitis		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infectious encephalitis	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29522266|PMID:29758562|PMID:29922827|PMID:29982661
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9003870	Herpes Simplex Encephalitis		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Herpes simplex encephalitis	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29522266|PMID:29758562|PMID:29922827|PMID:29982661
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605949	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:17200668|PMID:21618343|PMID:22692731|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26898890|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:30287823|PMID:32546565|PMID:33471991|PMID:34196900|PMID:35171259|PMID:35264596|PMID:35534704|PMID:35853885
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1605949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine neoplasm	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:27553368|PMID:28492532|PMID:31841383
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532|PMID:33471991|PMID:35264596|PMID:35534704
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:26580448|PMID:28492532|PMID:28678401|PMID:33471991|PMID:35449021
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:28492532|PMID:32427313|PMID:36446039
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868|PMID:26580448|PMID:28492532|PMID:28678401|PMID:33471991|PMID:35449021
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9006414	Breast Cancer, Familial Male		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial male	PMID:22692731|PMID:25575445|PMID:25741868|PMID:28492532|PMID:31636395|PMID:31757951
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22194698|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25326637|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30447919|PMID:30521987|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31263054|PMID:31300551|PMID:31382929|PMID:31422574|PMID:31428572|PMID:31447099|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31921681|PMID:31942411|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32521533|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33811135|PMID:33910496|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34196900|PMID:34284872|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25326637|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30521987|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34284872|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34846068|PMID:34946951|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35806449|PMID:35853885|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30521987|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34204722|PMID:34284872|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35610400|PMID:35806449|PMID:35853885|PMID:36315513|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32756499|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34399810|PMID:34623906|PMID:34659905|PMID:34793666|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35610400|PMID:35626031|PMID:35806449|PMID:35853885|PMID:36315513|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28825729|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30255452|PMID:30257646|PMID:30287823|PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31468469|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768066|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32625235|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32756499|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33320972|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33563768|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34399810|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34608183|PMID:34623906|PMID:34659905|PMID:34687117|PMID:34793666|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35451682|PMID:35610400|PMID:35626031|PMID:35806449|PMID:35853885|PMID:36139699|PMID:36243179|PMID:36271373|PMID:36315513|PMID:36605468|PMID:36988593|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823|PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30541756|PMID:30564542|PMID:30584090|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31468469|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31721781|PMID:31742824|PMID:31757951|PMID:31768066|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32012241|PMID:32019277|PMID:32039725|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32238468|PMID:32255556|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531196|PMID:3254656|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32625235|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32756499|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33320972|PMID:33332384|PMID:33384714|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33563768|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33804961|PMID:33809179|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34206535|PMID:34284872|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34399810|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34608183|PMID:34623906|PMID:34659905|PMID:34687117|PMID:34793666|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35171259|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35762214|PMID:35806449|PMID:35853885|PMID:35886069|PMID:36139699|PMID:36175305|PMID:36243179|PMID:36271373|PMID:36315513|PMID:36605468|PMID:36655350|PMID:36988593|PMID:37013556|PMID:37239058|PMID:37686625|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:100849|PMID:1378620|PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:202105|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23423317|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23649399|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25833843|PMID:25897114|PMID:25959805|PMID:2598075|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27907908|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28259476|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28825729|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29053726|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29335925|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29484706|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823|PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30541756|PMID:30564542|PMID:30584090|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31468469|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31721781|PMID:31742824|PMID:31757951|PMID:31768066|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32012241|PMID:32019277|PMID:32039725|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32238468|PMID:32255556|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531196|PMID:3254656|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32625235|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32756499|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33320972|PMID:33332384|PMID:33384714|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33563768|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33804961|PMID:33809179|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34206535|PMID:34284872|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34399810|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34608183|PMID:34623906|PMID:34659905|PMID:34687117|PMID:34793666|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35171259|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35710434|PMID:35762214|PMID:35806449|PMID:35853885|PMID:35886069|PMID:36139699|PMID:36175305|PMID:36243179|PMID:36271373|PMID:36315513|PMID:36605468|PMID:36655350|PMID:36988593|PMID:37013556|PMID:37239058|PMID:37686625|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:100849|PMID:1378620|PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:202105|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23423317|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23649399|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25326637|PMID:25330149|PMID:25337756|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25833843|PMID:25897114|PMID:25959805|PMID:2598075|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26787237|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27907908|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28259476|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28454591|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28825729|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29053726|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29484706|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29758562|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823|PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30541756|PMID:30564542|PMID:30584090|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30979843|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31468469|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31721781|PMID:31742824|PMID:31757951|PMID:31768066|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32012241|PMID:32019277|PMID:32039725|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32238468|PMID:32242007|PMID:32255556|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32339256|PMID:32365798|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531196|PMID:3254656|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32625235|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32756499|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32906206|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33320972|PMID:33332384|PMID:33384714|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33563768|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33758026|PMID:33804961|PMID:33809179|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34206535|PMID:34284872|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34399810|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34585473|PMID:34608183|PMID:34623906|PMID:34659905|PMID:34687117|PMID:34793666|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35038823|PMID:35087742|PMID:35089076|PMID:35171259|PMID:35218119|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35710434|PMID:35734982|PMID:35762214|PMID:35806449|PMID:35853885|PMID:35884425|PMID:35886069|PMID:35980532|PMID:36003761|PMID:36045058|PMID:36139699|PMID:36169650|PMID:36175305|PMID:36207130|PMID:36243179|PMID:36271373|PMID:36315513|PMID:36451132|PMID:36605468|PMID:36622392|PMID:36627197|PMID:36655350|PMID:36744932|PMID:36845387|PMID:36978154|PMID:36980780|PMID:36988593|PMID:37013556|PMID:37239058|PMID:37415201|PMID:37436117|PMID:37460928|PMID:37461096|PMID:37628606|PMID:37686625|PMID:37865086|PMID:37937776|PMID:38153744|PMID:38355628|PMID:38476606|PMID:38697030|PMID:39251783|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer predisposing syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32365798|PMID:32427313|PMID:32522261|PMID:3254656|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33804961|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34130653|PMID:34196900|PMID:34206535|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34399810|PMID:34439348|PMID:34485163|PMID:34585473|PMID:34659905|PMID:34793666|PMID:34846068|PMID:34917121|PMID:35039564|PMID:35171259|PMID:35220195|PMID:35258993|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35734982|PMID:35762214|PMID:35853885|PMID:35884425|PMID:36003761|PMID:36139699|PMID:36169650|PMID:36175305|PMID:36243179|PMID:36315513|PMID:36493725|PMID:36627197|PMID:36744932|PMID:36833268|PMID:36845387|PMID:36898365|PMID:36978154|PMID:36988593|PMID:37415201|PMID:37436117|PMID:37460928|PMID:37461096|PMID:37507557|PMID:37686625|PMID:37688579|PMID:37733863|PMID:37937776|PMID:38061684|PMID:38136308|PMID:38153744|PMID:38196669|PMID:38308423|PMID:38355628|PMID:38446987|PMID:38476606|PMID:38874686|PMID:39226054|PMID:39251783|PMID:39272924|PMID:39402389|PMID:39427061|PMID:39999518|PMID:40967221|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer predisposing syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:2241545|PMID:22692731|PMID:22980975|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23555315|PMID:23824750|PMID:23861464|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24136930|PMID:24141787|PMID:241536|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25833843|PMID:25897114|PMID:2598075|PMID:25980754|PMID:26023681|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26848151|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27067391|PMID:27099641|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27631815|PMID:27779110|PMID:27783279|PMID:27829436|PMID:27878467|PMID:27907908|PMID:27930734|PMID:27978560|PMID:28024868|PMID:28051113|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28492532|PMID:28495237|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28825729|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29025590|PMID:29052111|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29484706|PMID:29486991|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29706558|PMID:29719599|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29909963|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30377213|PMID:30426508|PMID:30447919|PMID:30521987|PMID:30541756|PMID:30564542|PMID:30584090|PMID:30613976|PMID:30630526|PMID:30638972|PMID:30651582|PMID:30661751|PMID:30675318|PMID:30720863|PMID:30792206|PMID:30842647|PMID:30883245|PMID:30890586|PMID:30975761|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360874|PMID:31382929|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31447099|PMID:31468469|PMID:31470354|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31857685|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31921681|PMID:31942411|PMID:32019277|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32098121|PMID:32133419|PMID:32185139
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer predisposing syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32238468|PMID:32255556|PMID:32339256|PMID:32365798|PMID:32427313|PMID:32522261|PMID:32531196|PMID:3254656|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32625235|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33128190|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33563768|PMID:33588785|PMID:33606809|PMID:33646313|PMID:33804961|PMID:33811135|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34130653|PMID:34196900|PMID:34206535|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34399810|PMID:34439348|PMID:34485163|PMID:34585473|PMID:34646395|PMID:34659905|PMID:34793666|PMID:34846068|PMID:34917121|PMID:35039564|PMID:35171259|PMID:35220195|PMID:35258993|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35734982|PMID:35762214|PMID:35806449|PMID:35853885|PMID:35884425|PMID:35980532|PMID:36003761|PMID:36139699|PMID:36175305|PMID:36207130|PMID:36243179|PMID:36271373|PMID:36315513|PMID:36446039|PMID:36451132|PMID:36493725|PMID:36627197|PMID:36845387|PMID:36898365|PMID:36978154|PMID:36980780|PMID:36988593|PMID:37415201|PMID:37436117|PMID:37460928|PMID:37461096|PMID:37507557|PMID:37686625|PMID:37688579|PMID:37937776|PMID:38061684|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38355628|PMID:38446987|PMID:38476606|PMID:38874686|PMID:39226054|PMID:39272924|PMID:39402389|PMID:39427061|PMID:39999518|PMID:40257527|PMID:41109346|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26315354|PMID:28492532|PMID:29625052|PMID:31206626|PMID:31841383
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605949	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825726
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605949	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29945567|PMID:30322717|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32339256|PMID:32566746
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605949	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29922827|PMID:29945567|PMID:30322717|PMID:30982232|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32068069|PMID:32339256|PMID:32566746|PMID:33193564
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605949	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29922827|PMID:29945567|PMID:30322717|PMID:30720863|PMID:30982232|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32068069|PMID:32339256|PMID:32566746|PMID:33193564|PMID:36988593
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms	PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:24448499|PMID:25085752|PMID:25099575|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29566657|PMID:29752822|PMID:29922827|PMID:30982232|PMID:32068069|PMID:32339256|PMID:33193564|PMID:33471991
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial Breast cancer | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32242007|PMID:32338768|PMID:32339256|PMID:32427313|PMID:32522261|PMID:3254656|PMID:32546565|PMID:32546831|PMID:32566746|PMID:32624572|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32756499|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33224012|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33718150|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34399810|PMID:34439348|PMID:34585473|PMID:34623906|PMID:34793666|PMID:34846068|PMID:34917121|PMID:35039564|PMID:35171259|PMID:35220195|PMID:35258993|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35710434|PMID:35734982|PMID:35853885|PMID:35884425|PMID:36003761|PMID:36139699|PMID:36169650|PMID:36175305|PMID:36243179|PMID:36315513|PMID:36493725|PMID:36627197|PMID:36655350|PMID:36744932|PMID:36833268|PMID:36898365|PMID:36978154|PMID:36988593|PMID:37436117|PMID:37460928|PMID:37461096|PMID:37507557|PMID:37686625|PMID:37733863|PMID:37937776|PMID:37961416|PMID:38061684|PMID:38136308|PMID:38153744|PMID:38196669|PMID:38308423|PMID:38355628|PMID:38476606|PMID:38874686|PMID:38918649|PMID:38981878|PMID:39251783|PMID:39256447|PMID:39272924|PMID:39402389|PMID:39427061|PMID:39999518|PMID:40967221|PMID:7200671|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763152|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20307669|PMID:20412113|PMID:20582465|PMID:20722467|PMID:20852946|PMID:20871615|PMID:20925782|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21635267|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22331464|PMID:22406018|PMID:22692731|PMID:22980975|PMID:23021409|PMID:23302520|PMID:23341105|PMID:23423317|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24982446|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25640679|PMID:25741868|PMID:25794774|PMID:25833843|PMID:25897114|PMID:25980754|PMID:26057125|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26787237|PMID:26845104|PMID:26845227|PMID:26898890|PMID:26911350|PMID:26976419|PMID:26990772|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27631815|PMID:27648926|PMID:27666373|PMID:27757719|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28454591|PMID:28492532|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28825729|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29053726|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29909963|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30054569|PMID:30093976|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30377213|PMID:30410870|PMID:30426508|PMID:30521987|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30638972|PMID:30661751|PMID:30720863|PMID:30792206|PMID:30883245|PMID:30890586|PMID:30947698|PMID:30975761|PMID:30979843|PMID:30982232|PMID:31060593|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31470354|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31871109|PMID:31871297|PMID:32012241|PMID:32019277|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32185139|PMID:32238468
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605949	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32242007|PMID:32338768|PMID:32339256|PMID:32427313|PMID:32522261|PMID:3254656|PMID:32546565|PMID:32546831|PMID:32624572|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32756499|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33224012|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33718150|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34399810|PMID:34439348|PMID:34585473|PMID:34623906|PMID:34793666|PMID:34846068|PMID:34917121|PMID:35039564|PMID:35171259|PMID:35220195|PMID:35258993|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35585550|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35710434|PMID:35734982|PMID:35853885|PMID:35884425|PMID:36003761|PMID:36139699|PMID:36169650|PMID:36175305|PMID:36243179|PMID:36315513|PMID:36493725|PMID:36627197|PMID:36655350|PMID:36744932|PMID:36833268|PMID:36898365|PMID:36978154|PMID:36988593|PMID:37436117|PMID:37460928|PMID:37461096|PMID:37507557|PMID:37686625|PMID:37733863|PMID:37937776|PMID:37961416|PMID:38061684|PMID:38136308|PMID:38153744|PMID:38196669|PMID:38308423|PMID:38355628|PMID:38476606|PMID:38874686|PMID:38918649|PMID:38981878|PMID:39251783|PMID:39256447|PMID:39272924|PMID:39402389|PMID:39427061|PMID:39999518|PMID:40967221|PMID:7200671|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763152|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20307669|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20871615|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22331464|PMID:22406018|PMID:2241545|PMID:22692731|PMID:22980975|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23423317|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24982446|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25640679|PMID:25741868|PMID:25794774|PMID:25833843|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26787237|PMID:26845104|PMID:26845227|PMID:26898890|PMID:26911350|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27631815|PMID:27648926|PMID:27757719|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27907908|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28454591|PMID:28492532|PMID:28495237|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727289|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28825729|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29053726|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29909963|PMID:29922827|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:30410870|PMID:30426508|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30638972|PMID:30661751|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30947698|PMID:30975761|PMID:30979843|PMID:30982232|PMID:31060593|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31470354|PMID:31570822|PMID:31575519|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31742824|PMID:31757951|PMID:31768816
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605949	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31871109|PMID:31871297|PMID:32012241|PMID:32019277|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32185139|PMID:32238468|PMID:32242007|PMID:32255556|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32522261|PMID:3254656|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32581362|PMID:32624572|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32756499|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33224012|PMID:33309985|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33674644|PMID:33718150|PMID:33758026|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34204722|PMID:34308366|PMID:34326862|PMID:34357101|PMID:34371384|PMID:34399810|PMID:34439348|PMID:34585473|PMID:34623906|PMID:34793666|PMID:34846068|PMID:34917121|PMID:35039564|PMID:35171259|PMID:35220195|PMID:35258993|PMID:35263119|PMID:35264596|PMID:35438911|PMID:35441217|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35710434|PMID:35734982|PMID:35853885|PMID:35884425|PMID:35980532|PMID:36003761|PMID:36139699|PMID:36169650|PMID:36175305|PMID:36207130|PMID:36243179|PMID:36446039|PMID:36451132|PMID:36493725|PMID:36600573|PMID:36627197|PMID:36655350|PMID:36744932|PMID:36833268|PMID:36978154|PMID:36980780|PMID:36988593|PMID:37436117|PMID:37444530|PMID:37460928|PMID:37461096|PMID:37507557|PMID:37686625|PMID:37937776|PMID:37961416|PMID:38061684|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38355628|PMID:38476606|PMID:38874686|PMID:38890714|PMID:38918649|PMID:38981878|PMID:39256447|PMID:39272924|PMID:39402389|PMID:39409938|PMID:39427061|PMID:39999518|PMID:40967221|PMID:41109346|PMID:7200671|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial Breast cancer | ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763152|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20307669|PMID:20412113|PMID:20582465|PMID:20722467|PMID:20852946|PMID:20871615|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22331464|PMID:22406018|PMID:2241545|PMID:22692731|PMID:22980975|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24982446|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25640679|PMID:25741868|PMID:25794774|PMID:25833843|PMID:25897114|PMID:25980754|PMID:26023681|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26845227|PMID:26898890|PMID:26911350|PMID:26976419|PMID:26990772|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27631815|PMID:27648926|PMID:27757719|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27907908|PMID:27930734|PMID:27978560|PMID:28024868|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28492532|PMID:28495237|PMID:28524162|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28825729|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30054569|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30377213|PMID:30410870|PMID:30426508|PMID:30521987|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30638972|PMID:30651582|PMID:30661751|PMID:30675318|PMID:30720863|PMID:30792206|PMID:30890586|PMID:30947698|PMID:30975761|PMID:30982232|PMID:31060593|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31428676|PMID:31447099|PMID:31468469|PMID:31470354|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31871109|PMID:31871297|PMID:31921681|PMID:31942411|PMID:32019277|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32185139|PMID:32238468|PMID:32339256|PMID:32427313|PMID:32522261|PMID:3254656|PMID:32546565|PMID:32546831|PMID:32554798|PMID:32624572
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial Breast cancer | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32625235|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32756499|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33224012|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33563768|PMID:33588785|PMID:33606809|PMID:33646313|PMID:33718150|PMID:33811135|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34399810|PMID:34439348|PMID:34585473|PMID:34623906|PMID:34793666|PMID:34846068|PMID:34917121|PMID:35039564|PMID:35171259|PMID:35220195|PMID:35258993|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35710434|PMID:35734982|PMID:35762214|PMID:35806449|PMID:35853885|PMID:35884425|PMID:35980532|PMID:36003761|PMID:36139699|PMID:36175305|PMID:36207130|PMID:36243179|PMID:36271373|PMID:36446039|PMID:36451132|PMID:36493725|PMID:36627197|PMID:36655350|PMID:36978154|PMID:36980780|PMID:36988593|PMID:37436117|PMID:37460928|PMID:37461096|PMID:37507557|PMID:37686625|PMID:37937776|PMID:37961416|PMID:38061684|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38355628|PMID:38874686|PMID:38918649|PMID:38981878|PMID:39256447|PMID:39272924|PMID:39402389|PMID:39427061|PMID:39999518|PMID:41109346|PMID:7200671|PMID:9536098
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9256	colorectal cancer		ISO	RGD:1605949	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:17420451|PMID:19264984|PMID:23341105|PMID:25099575|PMID:25741868|PMID:26467025|PMID:28492532
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9256	colorectal cancer		ISO	RGD:1605949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18302019|PMID:19264984|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:22241545|PMID:22310028|PMID:23341105|PMID:24136930|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28492532|PMID:28779002|PMID:28944238|PMID:31586400|PMID:31636395|PMID:32546565|PMID:33195396|PMID:33471991|PMID:34326862|PMID:35534704|PMID:35610400
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9256	colorectal cancer		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18302019|PMID:19264984|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:22241545|PMID:22310028|PMID:23341105|PMID:24136930|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25356972|PMID:25479140|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:28492532|PMID:28779002|PMID:28944238|PMID:31586400|PMID:31636395|PMID:32546565|PMID:33195396|PMID:33471991|PMID:34326862
1304759	Palb2	partner and localizer of BRCA2	gene	DOID:9834	hyperopia		ISO	RGD:1605949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:21409391|PMID:23555315|PMID:24448499|PMID:25085752|PMID:25186627|PMID:25225577|PMID:25479140|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26689913|PMID:26976419|PMID:28492532|PMID:28767289|PMID:28779002|PMID:28873162|PMID:30541756|PMID:32546565|PMID:32885271|PMID:33471991|PMID:34326862|PMID:35263119|PMID:37937776
1304760	Pi16	peptidase inhibitor 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304760	Pi16	peptidase inhibitor 16	gene	DOID:10534	stomach cancer		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304760	Pi16	peptidase inhibitor 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304760	Pi16	peptidase inhibitor 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304760	Pi16	peptidase inhibitor 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304760	Pi16	peptidase inhibitor 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304762	Iws1	interacts with SUPT6H, CTD assembly factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304762	Iws1	interacts with SUPT6H, CTD assembly factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304762	Iws1	interacts with SUPT6H, CTD assembly factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304762	Iws1	interacts with SUPT6H, CTD assembly factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1604340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304762	Iws1	interacts with SUPT6H, CTD assembly factor 1	gene	DOID:3275	thymoma		ISO	RGD:1604340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304762	Iws1	interacts with SUPT6H, CTD assembly factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304762	Iws1	interacts with SUPT6H, CTD assembly factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304762	Iws1	interacts with SUPT6H, CTD assembly factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304762	Iws1	interacts with SUPT6H, CTD assembly factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304762	Iws1	interacts with SUPT6H, CTD assembly factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304762	Iws1	interacts with SUPT6H, CTD assembly factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304763	Cct6a	chaperonin containing TCP1 subunit 6A	gene	DOID:10534	stomach cancer		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304763	Cct6a	chaperonin containing TCP1 subunit 6A	gene	DOID:1324	lung cancer		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304763	Cct6a	chaperonin containing TCP1 subunit 6A	gene	DOID:1909	melanoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304763	Cct6a	chaperonin containing TCP1 subunit 6A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304763	Cct6a	chaperonin containing TCP1 subunit 6A	gene	DOID:3275	thymoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304763	Cct6a	chaperonin containing TCP1 subunit 6A	gene	DOID:4362	cervical cancer		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304763	Cct6a	chaperonin containing TCP1 subunit 6A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304763	Cct6a	chaperonin containing TCP1 subunit 6A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1304763	Cct6a	chaperonin containing TCP1 subunit 6A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304763	Cct6a	chaperonin containing TCP1 subunit 6A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:39480921
1304763	Cct6a	chaperonin containing TCP1 subunit 6A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304763	Cct6a	chaperonin containing TCP1 subunit 6A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1304763	Cct6a	chaperonin containing TCP1 subunit 6A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304763	Cct6a	chaperonin containing TCP1 subunit 6A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304764	Ppp2r1b	protein phosphatase 2 scaffold subunit A beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304764	Ppp2r1b	protein phosphatase 2 scaffold subunit A beta	gene	DOID:1115	sarcoma		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304764	Ppp2r1b	protein phosphatase 2 scaffold subunit A beta	gene	DOID:1324	lung cancer		ISO	RGD:1312396	D	RGD:7240710	20240124	OMIM			
1304764	Ppp2r1b	protein phosphatase 2 scaffold subunit A beta	gene	DOID:1324	lung cancer		ISO	RGD:1312396	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LUNG CANCER, SOMATIC | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: PPP2R1B-related condition	
1304764	Ppp2r1b	protein phosphatase 2 scaffold subunit A beta	gene	DOID:1909	melanoma		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304764	Ppp2r1b	protein phosphatase 2 scaffold subunit A beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304764	Ppp2r1b	protein phosphatase 2 scaffold subunit A beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304764	Ppp2r1b	protein phosphatase 2 scaffold subunit A beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1312396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304764	Ppp2r1b	protein phosphatase 2 scaffold subunit A beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304764	Ppp2r1b	protein phosphatase 2 scaffold subunit A beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304764	Ppp2r1b	protein phosphatase 2 scaffold subunit A beta	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1312396	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304764	Ppp2r1b	protein phosphatase 2 scaffold subunit A beta	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304764	Ppp2r1b	protein phosphatase 2 scaffold subunit A beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304765	Ano6	anoctamin 6	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1312398	D	RGD:9684849|PMID:23308121	20141209	RGD		associated with Spondylitis, Ankylosing;DNA:SNP: :rs17095830(human)	
1304765	Ano6	anoctamin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304765	Ano6	anoctamin 6	gene	DOID:0070683	congenital hydrocephalus 2		ISO	RGD:1312398	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2	PMID:25741868
1304765	Ano6	anoctamin 6	gene	DOID:0111052	Scott syndrome		ISO	RGD:1312398	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304765	Ano6	anoctamin 6	gene	DOID:0111052	Scott syndrome		ISO	RGD:1312398	D	RGD:7240710	20130221	OMIM			
1304765	Ano6	anoctamin 6	gene	DOID:0111052	Scott syndrome		ISO	RGD:1312398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANO6-related condition | ClinVar Annotator: match by term: SCOTT SYNDROME | ClinVar Annotator: match by term: Scott syndrome	PMID:16199547|PMID:21107324|PMID:21511967|PMID:25741868|PMID:27879994|PMID:28492532|PMID:37647632
1304765	Ano6	anoctamin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
1304765	Ano6	anoctamin 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304765	Ano6	anoctamin 6	gene	DOID:3275	thymoma		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304765	Ano6	anoctamin 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1312398	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304765	Ano6	anoctamin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304765	Ano6	anoctamin 6	gene	DOID:630	genetic disease		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1304765	Ano6	anoctamin 6	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1312398	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138694
1304765	Ano6	anoctamin 6	gene	DOID:7147	ankylosing spondylitis	severity	ISO	RGD:1312398	D	RGD:9684849|PMID:23308121	20160617	RGD		DNA:SNP: :rs17095830(human)	
1304765	Ano6	anoctamin 6	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312398	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1304765	Ano6	anoctamin 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304765	Ano6	anoctamin 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304765	Ano6	anoctamin 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:10534	stomach cancer		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:1324	lung cancer		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:2394	ovarian cancer		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:4362	cervical cancer		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1312400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304766	Arhgef19	Rho guanine nucleotide exchange factor 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304770	Mfsd4b2	major facilitator superfamily domain containing 4B2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304770	Mfsd4b2	major facilitator superfamily domain containing 4B2	gene	DOID:1115	sarcoma		ISO	RGD:1321427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304770	Mfsd4b2	major facilitator superfamily domain containing 4B2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321427	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304770	Mfsd4b2	major facilitator superfamily domain containing 4B2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304770	Mfsd4b2	major facilitator superfamily domain containing 4B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304770	Mfsd4b2	major facilitator superfamily domain containing 4B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304770	Mfsd4b2	major facilitator superfamily domain containing 4B2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312407	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1312407	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:25741868|PMID:28492532
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss	PMID:25741868
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:1059	intellectual disability		ISO	RGD:1312407	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:12849	autistic disorder		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:37003183
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1312407	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:23263491
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:630	genetic disease		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:28518168|PMID:32461654
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312407	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475|PMID:29662167
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:37003183
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:618672
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:9008787	Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies		ISO	RGD:1312407	D	RGD:7240710	20200115	OMIM			
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:9008787	Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CNOT3-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | ClinVar Annotator: match by term: intellectual developmental disorder with speech delay, autism, and dysmorphic facies	PMID:17576681|PMID:25741868|PMID:28492532|PMID:31201375|PMID:32720325|PMID:37003183|PMID:618672|PMID:9536098
1304771	Cnot3	CCR4-NOT transcription complex, subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304772	Tex9	testis expressed 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304772	Tex9	testis expressed 9	gene	DOID:10534	stomach cancer		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304772	Tex9	testis expressed 9	gene	DOID:1115	sarcoma		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304772	Tex9	testis expressed 9	gene	DOID:1324	lung cancer		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304772	Tex9	testis expressed 9	gene	DOID:4362	cervical cancer		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304772	Tex9	testis expressed 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304772	Tex9	testis expressed 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304772	Tex9	testis expressed 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1606392	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304772	Tex9	testis expressed 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304772	Tex9	testis expressed 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304772	Tex9	testis expressed 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304772	Tex9	testis expressed 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304773	Cop1	COP1, E3 ubiquitin ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304773	Cop1	COP1, E3 ubiquitin ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304773	Cop1	COP1, E3 ubiquitin ligase	gene	DOID:1115	sarcoma		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304773	Cop1	COP1, E3 ubiquitin ligase	gene	DOID:12849	autistic disorder		ISO	RGD:1346229	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19404257
1304773	Cop1	COP1, E3 ubiquitin ligase	gene	DOID:1324	lung cancer		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304773	Cop1	COP1, E3 ubiquitin ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304773	Cop1	COP1, E3 ubiquitin ligase	gene	DOID:5041	esophageal cancer		ISO	RGD:1346229	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304773	Cop1	COP1, E3 ubiquitin ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304773	Cop1	COP1, E3 ubiquitin ligase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304773	Cop1	COP1, E3 ubiquitin ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304773	Cop1	COP1, E3 ubiquitin ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304773	Cop1	COP1, E3 ubiquitin ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304773	Cop1	COP1, E3 ubiquitin ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304774	Castor1	cytosolic arginine sensor for mTORC1 subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2306475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304774	Castor1	cytosolic arginine sensor for mTORC1 subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2306475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304774	Castor1	cytosolic arginine sensor for mTORC1 subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:2306475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304774	Castor1	cytosolic arginine sensor for mTORC1 subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:2306475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304774	Castor1	cytosolic arginine sensor for mTORC1 subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:2306475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304774	Castor1	cytosolic arginine sensor for mTORC1 subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2306475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304774	Castor1	cytosolic arginine sensor for mTORC1 subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2306475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304774	Castor1	cytosolic arginine sensor for mTORC1 subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2306475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304775	Ccdc150	coiled-coil domain containing 150	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304775	Ccdc150	coiled-coil domain containing 150	gene	DOID:1115	sarcoma		ISO	RGD:1606406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304775	Ccdc150	coiled-coil domain containing 150	gene	DOID:1324	lung cancer		ISO	RGD:1606406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304775	Ccdc150	coiled-coil domain containing 150	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304775	Ccdc150	coiled-coil domain containing 150	gene	DOID:4362	cervical cancer		ISO	RGD:1606406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304775	Ccdc150	coiled-coil domain containing 150	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304775	Ccdc150	coiled-coil domain containing 150	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304776	Xirp1	xin actin-binding repeat containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304776	Xirp1	xin actin-binding repeat containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1304776	Xirp1	xin actin-binding repeat containing 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISS	RGD:1312414	D	RGD:13592920	20180518	MouseDO			
1304776	Xirp1	xin actin-binding repeat containing 1	gene	DOID:1909	melanoma		ISO	RGD:1312413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304776	Xirp1	xin actin-binding repeat containing 1	gene	DOID:3275	thymoma		ISO	RGD:1312413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1304776	Xirp1	xin actin-binding repeat containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304776	Xirp1	xin actin-binding repeat containing 1	gene	DOID:9000046	Poisoning		ISO	RGD:1312413	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21964422
1304776	Xirp1	xin actin-binding repeat containing 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1312413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1304776	Xirp1	xin actin-binding repeat containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1304777	Nrip3	nuclear receptor interacting protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304777	Nrip3	nuclear receptor interacting protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312415	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304777	Nrip3	nuclear receptor interacting protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304777	Nrip3	nuclear receptor interacting protein 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1312415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304778	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304778	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304778	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:1324	lung cancer		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304778	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:1909	melanoma		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304778	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:3070	high grade glioma		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304778	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1312417	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304778	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1312417	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304778	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304778	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304778	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304778	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304778	Cercam	cerebral endothelial cell adhesion molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304779	Lrrc23	leucine rich repeat containing 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304779	Lrrc23	leucine rich repeat containing 23	gene	DOID:0070591	spermatogenic failure 92		ISO	RGD:1604054	D	RGD:7240710	20240703	OMIM			
1304779	Lrrc23	leucine rich repeat containing 23	gene	DOID:0070591	spermatogenic failure 92		ISO	RGD:1604054	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 92	
1304779	Lrrc23	leucine rich repeat containing 23	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304779	Lrrc23	leucine rich repeat containing 23	gene	DOID:1115	sarcoma		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304779	Lrrc23	leucine rich repeat containing 23	gene	DOID:1909	melanoma		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304779	Lrrc23	leucine rich repeat containing 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304779	Lrrc23	leucine rich repeat containing 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304779	Lrrc23	leucine rich repeat containing 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304779	Lrrc23	leucine rich repeat containing 23	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304780	Spats2	spermatogenesis associated, serine-rich 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304780	Spats2	spermatogenesis associated, serine-rich 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304780	Spats2	spermatogenesis associated, serine-rich 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304780	Spats2	spermatogenesis associated, serine-rich 2	gene	DOID:1324	lung cancer		ISO	RGD:1312420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304780	Spats2	spermatogenesis associated, serine-rich 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304780	Spats2	spermatogenesis associated, serine-rich 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312420	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304780	Spats2	spermatogenesis associated, serine-rich 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304780	Spats2	spermatogenesis associated, serine-rich 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304780	Spats2	spermatogenesis associated, serine-rich 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304780	Spats2	spermatogenesis associated, serine-rich 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1312422	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:0111464	combined oxidative phosphorylation deficiency 35		ISO	RGD:1312422	D	RGD:7240710	20190315	OMIM			
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:0111464	combined oxidative phosphorylation deficiency 35		ISO	RGD:1312422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 35 | ClinVar Annotator: match by term: TRIT1 Deficiency | ClinVar Annotator: match by term: TRIT1-related condition	PMID:24901367|PMID:25741868|PMID:26381753|PMID:28185376|PMID:28492532|PMID:30977854|PMID:31140736|PMID:31665838|PMID:32948376|PMID:35032046|PMID:36047296|PMID:36049610|PMID:37393059|PMID:37471090
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:10907	microcephaly		ISO	RGD:1312422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1312422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1312422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:2725	capillary hemangioma		ISO	RGD:1312422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	PMID:25741868
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1312422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30977854
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1312422	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1312422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:30977854
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1312422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532|PMID:32948376
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1304781	Trit1	tRNA isopentenyltransferase 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1312422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868
1304782	Rprd1b	regulation of nuclear pre-mRNA domain containing 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312424	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304782	Rprd1b	regulation of nuclear pre-mRNA domain containing 1B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304782	Rprd1b	regulation of nuclear pre-mRNA domain containing 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1312424	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304782	Rprd1b	regulation of nuclear pre-mRNA domain containing 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304783	Dohh	deoxyhypusine hydroxylase	gene	DOID:1059	intellectual disability		ISO	RGD:1606491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1304783	Dohh	deoxyhypusine hydroxylase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304783	Dohh	deoxyhypusine hydroxylase	gene	DOID:1115	sarcoma		ISO	RGD:1606491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304783	Dohh	deoxyhypusine hydroxylase	gene	DOID:12849	autistic disorder		ISO	RGD:1606491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1304783	Dohh	deoxyhypusine hydroxylase	gene	DOID:1324	lung cancer		ISO	RGD:1606491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304783	Dohh	deoxyhypusine hydroxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304783	Dohh	deoxyhypusine hydroxylase	gene	DOID:6432	pulmonary hypertension		IEP		D	RGD:597621636|PMID:38261723	20250205	RGD		protein:increased expression:pulmonary artery,right ventricle	
1304783	Dohh	deoxyhypusine hydroxylase	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1606491	D	RGD:597621636|PMID:38261723	20250205	RGD		protein:increased expression:pulmonary arterial smooth muscle, pulmonary artery, right ventricle:	
1304783	Dohh	deoxyhypusine hydroxylase	gene	DOID:9004467	Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment		ISO	RGD:1606491	D	RGD:7240710	20221123	OMIM			
1304783	Dohh	deoxyhypusine hydroxylase	gene	DOID:9004467	Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment		ISO	RGD:1606491	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: DOHH related neurodevelopmental disorder | ClinVar Annotator: match by term: DOHH-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment	PMID:25741868|PMID:35858628
1304783	Dohh	deoxyhypusine hydroxylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304784	Lmx1a	LIM homeobox transcription factor 1 alpha	gene	DOID:0110591	autosomal dominant nonsyndromic deafness 7		ISO	RGD:1312426	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304784	Lmx1a	LIM homeobox transcription factor 1 alpha	gene	DOID:0110591	autosomal dominant nonsyndromic deafness 7		ISO	RGD:1312426	D	RGD:7240710	20200226	OMIM			
1304784	Lmx1a	LIM homeobox transcription factor 1 alpha	gene	DOID:0110591	autosomal dominant nonsyndromic deafness 7		ISO	RGD:1312426	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 7 | ClinVar Annotator: match by term: Deafness, autosomal dominant 7 | ClinVar Annotator: match by term: LMX1A-related condition	PMID:25741868
1304784	Lmx1a	LIM homeobox transcription factor 1 alpha	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312426	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1304784	Lmx1a	LIM homeobox transcription factor 1 alpha	gene	DOID:5419	schizophrenia		ISO	RGD:1312426	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1304784	Lmx1a	LIM homeobox transcription factor 1 alpha	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312426	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:29971487
1304784	Lmx1a	LIM homeobox transcription factor 1 alpha	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312426	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:30311386|PMID:32840933|PMID:35711095|PMID:36140227
1304786	Rbpjl	recombination signal binding protein for immunoglobulin kappa J region-like	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1312429	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868
1304786	Rbpjl	recombination signal binding protein for immunoglobulin kappa J region-like	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1312429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1304786	Rbpjl	recombination signal binding protein for immunoglobulin kappa J region-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304786	Rbpjl	recombination signal binding protein for immunoglobulin kappa J region-like	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1312429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1304787	Fbxo42	F-box protein 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304787	Fbxo42	F-box protein 42	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304787	Fbxo42	F-box protein 42	gene	DOID:1115	sarcoma		ISO	RGD:1312431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304787	Fbxo42	F-box protein 42	gene	DOID:1324	lung cancer		ISO	RGD:1312431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304787	Fbxo42	F-box protein 42	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304787	Fbxo42	F-box protein 42	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304787	Fbxo42	F-box protein 42	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304788	Lactb	lactamase, beta	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1312433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1304788	Lactb	lactamase, beta	gene	DOID:1909	melanoma		ISO	RGD:1312433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304788	Lactb	lactamase, beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304788	Lactb	lactamase, beta	gene	DOID:3275	thymoma		ISO	RGD:1312433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304788	Lactb	lactamase, beta	gene	DOID:4362	cervical cancer		ISO	RGD:1312433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304788	Lactb	lactamase, beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304788	Lactb	lactamase, beta	gene	DOID:9970	obesity		ISO	RGD:1312433	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18344982
1304789	Serpina9	serpin family A member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312435	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304789	Serpina9	serpin family A member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304790	Fam43a	family with sequence similarity 43, member A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343774	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1304791	Bfar	bifunctional apoptosis regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1312438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304791	Bfar	bifunctional apoptosis regulator	gene	DOID:1115	sarcoma		ISO	RGD:1312438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304791	Bfar	bifunctional apoptosis regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1312438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304791	Bfar	bifunctional apoptosis regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304791	Bfar	bifunctional apoptosis regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304792	Gcfc2	GC-rich sequence DNA-binding factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304792	Gcfc2	GC-rich sequence DNA-binding factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304792	Gcfc2	GC-rich sequence DNA-binding factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304792	Gcfc2	GC-rich sequence DNA-binding factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304792	Gcfc2	GC-rich sequence DNA-binding factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1312440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304792	Gcfc2	GC-rich sequence DNA-binding factor 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304792	Gcfc2	GC-rich sequence DNA-binding factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304792	Gcfc2	GC-rich sequence DNA-binding factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304792	Gcfc2	GC-rich sequence DNA-binding factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304792	Gcfc2	GC-rich sequence DNA-binding factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304792	Gcfc2	GC-rich sequence DNA-binding factor 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304792	Gcfc2	GC-rich sequence DNA-binding factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304792	Gcfc2	GC-rich sequence DNA-binding factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304792	Gcfc2	GC-rich sequence DNA-binding factor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1312440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304793	Tmem222	transmembrane protein 222	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304793	Tmem222	transmembrane protein 222	gene	DOID:10534	stomach cancer		ISO	RGD:1604776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304793	Tmem222	transmembrane protein 222	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304793	Tmem222	transmembrane protein 222	gene	DOID:1115	sarcoma		ISO	RGD:1604776	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304793	Tmem222	transmembrane protein 222	gene	DOID:1324	lung cancer		ISO	RGD:1604776	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304793	Tmem222	transmembrane protein 222	gene	DOID:3275	thymoma		ISO	RGD:1604776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304793	Tmem222	transmembrane protein 222	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304793	Tmem222	transmembrane protein 222	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304793	Tmem222	transmembrane protein 222	gene	DOID:630	genetic disease		ISO	RGD:1604776	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1304793	Tmem222	transmembrane protein 222	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304793	Tmem222	transmembrane protein 222	gene	DOID:9002095	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1604776	D	RGD:7240710	20211027	OMIM			
1304793	Tmem222	transmembrane protein 222	gene	DOID:9002095	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1604776	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities	PMID:25741868
1304794	Cenpb	centromere protein B	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1312443	D	RGD:27226708|PMID:8911074	20200522	RGD			
1304794	Cenpb	centromere protein B	gene	DOID:2952	inner ear disease		ISO	RGD:1312443	D	RGD:27226707|PMID:18520322	20200522	RGD		associated with  limited scleroderma	
1304795	Apbb1ip	amyloid beta precursor protein binding family B member 1 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312445	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304795	Apbb1ip	amyloid beta precursor protein binding family B member 1 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1312445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304795	Apbb1ip	amyloid beta precursor protein binding family B member 1 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1312445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304795	Apbb1ip	amyloid beta precursor protein binding family B member 1 interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1312445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304795	Apbb1ip	amyloid beta precursor protein binding family B member 1 interacting protein	gene	DOID:3070	high grade glioma		ISO	RGD:1312445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304795	Apbb1ip	amyloid beta precursor protein binding family B member 1 interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1312445	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304795	Apbb1ip	amyloid beta precursor protein binding family B member 1 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304795	Apbb1ip	amyloid beta precursor protein binding family B member 1 interacting protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304795	Apbb1ip	amyloid beta precursor protein binding family B member 1 interacting protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312445	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1304796	Mrpl15	mitochondrial ribosomal protein L15	gene	DOID:0080600	COVID-19		ISO	RGD:1312447	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1304796	Mrpl15	mitochondrial ribosomal protein L15	gene	DOID:4362	cervical cancer		ISO	RGD:1312447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304796	Mrpl15	mitochondrial ribosomal protein L15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304796	Mrpl15	mitochondrial ribosomal protein L15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304796	Mrpl15	mitochondrial ribosomal protein L15	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304796	Mrpl15	mitochondrial ribosomal protein L15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304797	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304797	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304797	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:10534	stomach cancer		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304797	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:1324	lung cancer		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304797	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304797	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:3275	thymoma		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304797	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:4362	cervical cancer		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304797	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:5041	esophageal cancer		ISO	RGD:1312449	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304797	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304797	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304797	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:9005651	NOR POLYAGGLUTINATION SYNDROME		ISO	RGD:1312449	D	RGD:7240710	20241113	OMIM			
1304797	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304797	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304797	B3galnt1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304798	Zfp184	zinc finger protein 184	gene	DOID:10283	prostate cancer		ISO	RGD:1312451	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1304798	Zfp184	zinc finger protein 184	gene	DOID:10283	prostate cancer		ISO	RGD:1312451	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1304798	Zfp184	zinc finger protein 184	gene	DOID:10534	stomach cancer		ISO	RGD:1312451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304798	Zfp184	zinc finger protein 184	gene	DOID:1909	melanoma		ISO	RGD:1312451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304798	Zfp184	zinc finger protein 184	gene	DOID:5041	esophageal cancer		ISO	RGD:1312451	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304798	Zfp184	zinc finger protein 184	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304798	Zfp184	zinc finger protein 184	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304799	Dguok	deoxyguanosine kinase	gene	DOID:0080121	mitochondrial DNA depletion syndrome 3		IMP		D	RGD:15039296|PMID:30404003	20191127	RGD			
1304799	Dguok	deoxyguanosine kinase	gene	DOID:0080121	mitochondrial DNA depletion syndrome 3		ISO	RGD:1312453	D	RGD:7240710	20130221	OMIM			
1304799	Dguok	deoxyguanosine kinase	gene	DOID:0080121	mitochondrial DNA depletion syndrome 3		ISO	RGD:1312453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 | ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	PMID:11687800|PMID:12205643|PMID:12210798|PMID:14623087|PMID:16263314|PMID:16908739|PMID:17073823|PMID:17452231|PMID:17576681|PMID:18205204|PMID:19103789|PMID:19265691|PMID:19748572|PMID:19900589|PMID:21107780|PMID:23043144|PMID:23783014|PMID:24423689|PMID:24642831|PMID:25741868|PMID:26874653|PMID:27324545|PMID:28492532|PMID:28493820|PMID:29137425|PMID:30366773|PMID:30589726|PMID:32482602|PMID:33486010|PMID:37976411|PMID:38703036|PMID:38756539|PMID:39382773|PMID:9175742|PMID:9536098
1304799	Dguok	deoxyguanosine kinase	gene	DOID:0080121	mitochondrial DNA depletion syndrome 3		ISO	RGD:1312454	D	RGD:15039214|PMID:31127938	20191127	RGD			
1304799	Dguok	deoxyguanosine kinase	gene	DOID:0111516	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4		ISO	RGD:1312453	D	RGD:7240710	20190315	OMIM			
1304799	Dguok	deoxyguanosine kinase	gene	DOID:0111516	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4		ISO	RGD:1312453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	PMID:12205643|PMID:14623087|PMID:17073823|PMID:17452231|PMID:17576681|PMID:18205204|PMID:19103789|PMID:19900589|PMID:24642831|PMID:25741868|PMID:27324545|PMID:28492532|PMID:28493820|PMID:30366773|PMID:32482602|PMID:9536098
1304799	Dguok	deoxyguanosine kinase	gene	DOID:10024	migraine with aura		ISO	RGD:1312453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine with aura	PMID:25741868|PMID:28492532
1304799	Dguok	deoxyguanosine kinase	gene	DOID:10762	portal hypertension		ISO	RGD:1312453	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1304799	Dguok	deoxyguanosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1312453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:17073823|PMID:17452231|PMID:17576681|PMID:18205204|PMID:24642831|PMID:25741868|PMID:28492532|PMID:9536098
1304799	Dguok	deoxyguanosine kinase	gene	DOID:13580	cholestasis		ISO	RGD:1312453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868
1304799	Dguok	deoxyguanosine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304799	Dguok	deoxyguanosine kinase	gene	DOID:3650	lactic acidosis		ISO	RGD:1312453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
1304799	Dguok	deoxyguanosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1312453	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1304799	Dguok	deoxyguanosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304799	Dguok	deoxyguanosine kinase	gene	DOID:630	genetic disease		ISO	RGD:1312453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12205643|PMID:14623087|PMID:19103789|PMID:25741868|PMID:27324545|PMID:28492532|PMID:28493820|PMID:30366773|PMID:32482602
1304799	Dguok	deoxyguanosine kinase	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1312453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the mitochondrion | ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532
1304799	Dguok	deoxyguanosine kinase	gene	DOID:700	mitochondrial metabolism disease	susceptibility	ISO	RGD:1312453	D	RGD:1601052|PMID:11687800	20070404	RGD		mitochondrial DNA depletion syndrome, hepatocerebral form, OMIM:251880;DNA:deletion: :204delA	
1304799	Dguok	deoxyguanosine kinase	gene	DOID:9000761	Deoxyguanosine Kinase Deficiency		ISO	RGD:1312453	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26342080
1304799	Dguok	deoxyguanosine kinase	gene	DOID:9001065	Noncirrhotic Portal Hypertension 1		ISO	RGD:1312453	D	RGD:7240710	20241120	OMIM			
1304799	Dguok	deoxyguanosine kinase	gene	DOID:9001065	Noncirrhotic Portal Hypertension 1		ISO	RGD:1312453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 1	PMID:12205643|PMID:14623087|PMID:17073823|PMID:17452231|PMID:17576681|PMID:18205204|PMID:19103789|PMID:19900589|PMID:24642831|PMID:25741868|PMID:27324545|PMID:28492532|PMID:28493820|PMID:30366773|PMID:32482602|PMID:9536098
1304799	Dguok	deoxyguanosine kinase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1304799	Dguok	deoxyguanosine kinase	gene	DOID:9007874	Liver Failure		ISO	RGD:1312453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:25741868
1304799	Dguok	deoxyguanosine kinase	gene	DOID:9008023	Memory Disorders		ISO	RGD:1312453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1304799	Dguok	deoxyguanosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304800	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304800	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304800	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304800	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304800	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304800	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304800	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304800	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304800	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304800	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304800	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304800	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304800	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304800	Gga2	golgi associated, gamma adaptin ear containing, ARF binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304801	S1pr4	sphingosine-1-phosphate receptor 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1312457	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22406263
1304802	Frmd3	FERM domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304802	Frmd3	FERM domain containing 3	gene	DOID:0060081	triple-negative breast cancer		ISS	RGD:1312460	D	RGD:13592920	20250130	MouseDO			
1304802	Frmd3	FERM domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1312459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304802	Frmd3	FERM domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1312459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304802	Frmd3	FERM domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304802	Frmd3	FERM domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304802	Frmd3	FERM domain containing 3	gene	DOID:9001341	Chloracne		ISO	RGD:1312459	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
1304802	Frmd3	FERM domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304802	Frmd3	FERM domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304802	Frmd3	FERM domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304803	Wdr24	WD repeat domain 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304803	Wdr24	WD repeat domain 24	gene	DOID:10534	stomach cancer		ISO	RGD:1344935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304803	Wdr24	WD repeat domain 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304803	Wdr24	WD repeat domain 24	gene	DOID:1324	lung cancer		ISO	RGD:1344935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304803	Wdr24	WD repeat domain 24	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304803	Wdr24	WD repeat domain 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304805	Krt12	keratin 12	gene	DOID:0060451	Meesmann corneal dystrophy		ISO	RGD:1312464	D	RGD:11554173	20200505	CTD		CTD Direct Evidence: marker/mechanism	
1304805	Krt12	keratin 12	gene	DOID:0080670	Meesmann corneal dystrophy 1		ISO	RGD:1312464	D	RGD:7240710	20200429	OMIM			
1304805	Krt12	keratin 12	gene	DOID:0080670	Meesmann corneal dystrophy 1		ISO	RGD:1312464	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, MEESMANN, 1 | ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 1 | ClinVar Annotator: match by term: KRT12-related condition	PMID:25741868|PMID:28492532
1304805	Krt12	keratin 12	gene	DOID:1754	mitral valve stenosis		ISO	RGD:1312464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral stenosis	PMID:20577595
1304805	Krt12	keratin 12	gene	DOID:2566	corneal dystrophy	susceptibility	ISO	RGD:1312464	D	RGD:1600169|PMID:9171831	20070301	RGD		protein:mutations: ; V143L, R135T; Meesmann's corneal dystrophy, OMIM:122100	
1304805	Krt12	keratin 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304805	Krt12	keratin 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304805	Krt12	keratin 12	gene	DOID:630	genetic disease		ISO	RGD:1312464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1304808	Ino80d	INO80 complex subunit D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304808	Ino80d	INO80 complex subunit D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304808	Ino80d	INO80 complex subunit D	gene	DOID:10534	stomach cancer		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304808	Ino80d	INO80 complex subunit D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304808	Ino80d	INO80 complex subunit D	gene	DOID:1115	sarcoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304808	Ino80d	INO80 complex subunit D	gene	DOID:1909	melanoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304808	Ino80d	INO80 complex subunit D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304808	Ino80d	INO80 complex subunit D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304808	Ino80d	INO80 complex subunit D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304809	Ankef1	ankyrin repeat and EF-hand domain containing 1	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1312470	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:28492532|PMID:32733715
1304810	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304810	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602875	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304810	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304810	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:3275	thymoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304810	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304810	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304810	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304810	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304810	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304810	Trmt9b	tRNA methyltransferase 9B (putative)	gene	DOID:9256	colorectal cancer		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304811	Tmc4	transmembrane channel-like 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304811	Tmc4	transmembrane channel-like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304811	Tmc4	transmembrane channel-like 4	gene	DOID:10534	stomach cancer		ISO	RGD:1312473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304811	Tmc4	transmembrane channel-like 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304811	Tmc4	transmembrane channel-like 4	gene	DOID:1115	sarcoma		ISO	RGD:1312473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304811	Tmc4	transmembrane channel-like 4	gene	DOID:1324	lung cancer		ISO	RGD:1312473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304811	Tmc4	transmembrane channel-like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304811	Tmc4	transmembrane channel-like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1312473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304811	Tmc4	transmembrane channel-like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304811	Tmc4	transmembrane channel-like 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304811	Tmc4	transmembrane channel-like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304812	Fchsd2	FCH and double SH3 domains 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304812	Fchsd2	FCH and double SH3 domains 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304812	Fchsd2	FCH and double SH3 domains 2	gene	DOID:1324	lung cancer		ISO	RGD:1312475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304812	Fchsd2	FCH and double SH3 domains 2	gene	DOID:1909	melanoma		ISO	RGD:1312475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304812	Fchsd2	FCH and double SH3 domains 2	gene	DOID:3070	high grade glioma		ISO	RGD:1312475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304812	Fchsd2	FCH and double SH3 domains 2	gene	DOID:3275	thymoma		ISO	RGD:1312475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304812	Fchsd2	FCH and double SH3 domains 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304812	Fchsd2	FCH and double SH3 domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304812	Fchsd2	FCH and double SH3 domains 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1312475	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1304812	Fchsd2	FCH and double SH3 domains 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304812	Fchsd2	FCH and double SH3 domains 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304812	Fchsd2	FCH and double SH3 domains 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304813	Rbms2	RNA binding motif, single stranded interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304813	Rbms2	RNA binding motif, single stranded interacting protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304813	Rbms2	RNA binding motif, single stranded interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304813	Rbms2	RNA binding motif, single stranded interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304813	Rbms2	RNA binding motif, single stranded interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312477	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304813	Rbms2	RNA binding motif, single stranded interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304813	Rbms2	RNA binding motif, single stranded interacting protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304813	Rbms2	RNA binding motif, single stranded interacting protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304814	Klhl9	kelch-like family member 9	gene	DOID:630	genetic disease		ISO	RGD:1347061	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1312479	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:19732867|PMID:21465660|PMID:22975204|PMID:23226338|PMID:24033266|PMID:25741868|PMID:25792669|PMID:26969326|PMID:28000701|PMID:28492532|PMID:29676012|PMID:30311386|PMID:31152317|PMID:31547530|PMID:32860223|PMID:33297549|PMID:33753533|PMID:33892339
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1312479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness	PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:29676012|PMID:30760222|PMID:31152317|PMID:31547530|PMID:31709873|PMID:32149082|PMID:32860223|PMID:33892339|PMID:35875410
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:1312479	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss	PMID:25741868
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:0050567	orofacial cleft	susceptibility	ISO	RGD:1312479	D	RGD:13204730|PMID:27242896	20170717	RGD		DNA:SNP:exon:rs1450425 (human)	
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:0060249	scoliosis		ISO	RGD:1312479	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24033266|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:0080046	Stickler syndrome		ISO	RGD:1312479	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Stickler syndrome	PMID:28492532|PMID:30311386
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1312479	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	PMID:24033266|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:0110525	autosomal recessive nonsyndromic deafness 77		ISO	RGD:1312479	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:0110525	autosomal recessive nonsyndromic deafness 77		ISO	RGD:1312479	D	RGD:7240710	20130221	OMIM			
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:0110525	autosomal recessive nonsyndromic deafness 77		ISO	RGD:1312479	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive deafness type 77 | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 77 | ClinVar Annotator: match by term: Deafness, autosomal recessive 77 | ClinVar Annotator: match by term: LOXHD1-related condition	PMID:16199547|PMID:17576681|PMID:19732867|PMID:21465660|PMID:22341973|PMID:22975204|PMID:23226338|PMID:24033266|PMID:25251670|PMID:25741868|PMID:25792669|PMID:25938503|PMID:26346818|PMID:26467025|PMID:26561413|PMID:26763877|PMID:26969326|PMID:26973026|PMID:27068579|PMID:27959697|PMID:27984600|PMID:28000701|PMID:28383030|PMID:28492532|PMID:28984810|PMID:29309402|PMID:29676012|PMID:29799290|PMID:30123251|PMID:30311386|PMID:30760222|PMID:31152317|PMID:31547530|PMID:31709873|PMID:31827275|PMID:31980526|PMID:32149082|PMID:32279305|PMID:32645618|PMID:32860223|PMID:32991204|PMID:33297549|PMID:33753533|PMID:33892339|PMID:34171171|PMID:34440452|PMID:34593925|PMID:34599366|PMID:34753855|PMID:35440622|PMID:35711932|PMID:35802133|PMID:35875410|PMID:36568381|PMID:36597107|PMID:36633841|PMID:37438890|PMID:38844983|PMID:39767564|PMID:9536098
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:24033266|PMID:25741868|PMID:25938503|PMID:26467025|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:10485	esophageal atresia		ISO	RGD:1312479	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:24033266|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:1059	intellectual disability		ISO	RGD:1312479	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:24033266|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:11555	Fuchs' endothelial dystrophy		ISO	RGD:1312479	D	RGD:11072687|PMID:22341973	20170717	RGD		DNA:missense mutations: :multiple	
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1312479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1312479	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:24033266|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:14679	VACTERL association		ISO	RGD:1312479	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: VATER association	PMID:24033266|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1312479	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:16199547|PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:28492532|PMID:32165824|PMID:33892339
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1312479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:24033266|PMID:25741868|PMID:25938503|PMID:26467025|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312479	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:26467025|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:630	genetic disease		ISO	RGD:1312479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1312479	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:24033266|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1312479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:24033266|PMID:25741868|PMID:25938503|PMID:26467025|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1312479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:24033266|PMID:25741868|PMID:25938503|PMID:26467025|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312479	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:19732867|PMID:21465660|PMID:24033266|PMID:25792669|PMID:28492532|PMID:29676012|PMID:30311386|PMID:37438890
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1312479	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24033266|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24033266|PMID:28492532
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:9008681	Deafness		ISO	RGD:1312479	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:19732867|PMID:21465660|PMID:22341973|PMID:23897863|PMID:24033266|PMID:25333069|PMID:25741868|PMID:25792669|PMID:28492532|PMID:33111345
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304815	Loxhd1	lipoxygenase homology PLAT domains 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1312479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:0060058	lymphoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:10534	stomach cancer		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:1909	melanoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:303	substance-related disorder		ISO	RGD:1312480	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:3275	thymoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:4362	cervical cancer		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1312480	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:630	genetic disease		ISO	RGD:1312480	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:670	amphetamine abuse		ISO	RGD:1312480	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304816	Fkbp15	FKBP prolyl isomerase family member 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304817	Atg7	autophagy related 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304817	Atg7	autophagy related 7	gene	DOID:0050908	myelodysplastic syndrome		ISS	RGD:1558502	D	RGD:13592920	20180518	MouseDO		OMIM:614286	
1304817	Atg7	autophagy related 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304817	Atg7	autophagy related 7	gene	DOID:0060319	cardiac arrest	ameliorates	IMP		D	RGD:407532703|PMID:26071643	20240911	RGD			
1304817	Atg7	autophagy related 7	gene	DOID:0070412	autosomal recessive spinocerebellar ataxia 31		ISO	RGD:1312481	D	RGD:7240710	20210728	OMIM			
1304817	Atg7	autophagy related 7	gene	DOID:0070412	autosomal recessive spinocerebellar ataxia 31		ISO	RGD:1312481	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ATG7-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 | ClinVar Annotator: match by term: spinocerebellar ataxia, autosomal recessive 31	PMID:25741868|PMID:28492532|PMID:34161705|PMID:35725745
1304817	Atg7	autophagy related 7	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	ameliorates	ISO	RGD:1558502	D	RGD:407445922|PMID:34303881	20240822	RGD			
1304817	Atg7	autophagy related 7	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	exacerbates	ISO	RGD:1558502	D	RGD:407445921|PMID:31235522	20240822	RGD			
1304817	Atg7	autophagy related 7	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:1558502	D	RGD:407445926|PMID:31090940	20240826	RGD		protein:increased expression:liver	
1304817	Atg7	autophagy related 7	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	IEP		D	RGD:25823196|PMID:31787541	20240822	RGD			
1304817	Atg7	autophagy related 7	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	IEP		D	RGD:407532640|PMID:34052187	20240910	RGD			
1304817	Atg7	autophagy related 7	gene	DOID:10534	stomach cancer		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304817	Atg7	autophagy related 7	gene	DOID:10763	hypertension		IEP		D	RGD:11557985|PMID:24119246	20161103	RGD		protein:increased expression:skeletal muscle	
1304817	Atg7	autophagy related 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304817	Atg7	autophagy related 7	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:1558502	D	RGD:407445926|PMID:31090940	20240826	RGD		protein:increased expression:liver	
1304817	Atg7	autophagy related 7	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:1558502	D	RGD:407532639|PMID:36308627	20240910	RGD			
1304817	Atg7	autophagy related 7	gene	DOID:1289	neurodegenerative disease		IEP		D	RGD:11557995|PMID:26208597	20161104	RGD			
1304817	Atg7	autophagy related 7	gene	DOID:12935	alcoholic cardiomyopathy	treatment	ISO	RGD:1558502	D	RGD:407532638|PMID:29039471	20240910	RGD			
1304817	Atg7	autophagy related 7	gene	DOID:14330	Parkinson's disease		ISS	RGD:1558502	D	RGD:13592920	20180518	MouseDO		OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251	
1304817	Atg7	autophagy related 7	gene	DOID:1909	melanoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304817	Atg7	autophagy related 7	gene	DOID:2355	anemia		ISO	RGD:1312481	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
1304817	Atg7	autophagy related 7	gene	DOID:3070	high grade glioma	treatment	IDA		D	RGD:11557994|PMID:25542083	20161104	RGD			
1304817	Atg7	autophagy related 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304817	Atg7	autophagy related 7	gene	DOID:4362	cervical cancer		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304817	Atg7	autophagy related 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304817	Atg7	autophagy related 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1312481	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304817	Atg7	autophagy related 7	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1312481	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1304817	Atg7	autophagy related 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304817	Atg7	autophagy related 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304817	Atg7	autophagy related 7	gene	DOID:5844	myocardial infarction		IEP		D	RGD:11557988|PMID:24427319	20161103	RGD		mRNA:increased expression:plantaris	
1304817	Atg7	autophagy related 7	gene	DOID:607	paraplegia		IEP		D	RGD:11557990|PMID:23055316	20161103	RGD			
1304817	Atg7	autophagy related 7	gene	DOID:614	lymphopenia		ISO	RGD:1312481	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
1304817	Atg7	autophagy related 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312481	D	RGD:11554173	20180410	CTD		CTD Direct Evidence: marker/mechanism	PMID:29191453
1304817	Atg7	autophagy related 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304817	Atg7	autophagy related 7	gene	DOID:8466	retinal degeneration	exacerbates	ISO	RGD:1558502	D	RGD:407445924|PMID:23341467	20240826	RGD			
1304817	Atg7	autophagy related 7	gene	DOID:8947	diabetic retinopathy		IEP		D	RGD:407571700|PMID:32272782	20241002	RGD		associated with type 2 diabetes mellitus; protein:decreased, altered expression:retina	
1304817	Atg7	autophagy related 7	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1558502	D	RGD:407571700|PMID:32272782	20241022	RGD		associated with type 1 diabetes mellitus;protein:decreased, altered expression:retina	
1304817	Atg7	autophagy related 7	gene	DOID:90	degenerative disc disease	ameliorates	IDA		D	RGD:407571673|PMID:33372336	20240925	RGD			
1304817	Atg7	autophagy related 7	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:11553820|PMID:25040536	20161013	RGD		protein:increased expression:axon	
1304817	Atg7	autophagy related 7	gene	DOID:9001981	Weight Loss		ISO	RGD:1312481	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
1304817	Atg7	autophagy related 7	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1558502	D	RGD:329902072|PMID:34400126	20230630	RGD			
1304817	Atg7	autophagy related 7	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1312481	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28408137
1304817	Atg7	autophagy related 7	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1312481	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:26483381
1304817	Atg7	autophagy related 7	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1558502	D	RGD:11557993|PMID:24874076	20161104	RGD		protein:decreased expression:myocardium	
1304817	Atg7	autophagy related 7	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	IEP		D	RGD:11557996|PMID:24993523	20161104	RGD			
1304817	Atg7	autophagy related 7	gene	DOID:9005749	Necrosis		ISO	RGD:1312481	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:21081844
1304817	Atg7	autophagy related 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304817	Atg7	autophagy related 7	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1312481	D	RGD:11554173	20260505	CTD		CTD Direct Evidence: therapeutic	PMID:40578406
1304817	Atg7	autophagy related 7	gene	DOID:9007874	Liver Failure		ISO	RGD:1312481	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:26483381
1304817	Atg7	autophagy related 7	gene	DOID:9008617	Lethargy		ISO	RGD:1312481	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
1304817	Atg7	autophagy related 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304817	Atg7	autophagy related 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304818	Heca	HECA ribonucleoprotein granule regulator	gene	DOID:1324	lung cancer		ISO	RGD:1312483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304819	Cdc23	cell division cycle 23	gene	DOID:1115	sarcoma		ISO	RGD:1312484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304819	Cdc23	cell division cycle 23	gene	DOID:1324	lung cancer		ISO	RGD:1312484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304819	Cdc23	cell division cycle 23	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304819	Cdc23	cell division cycle 23	gene	DOID:4362	cervical cancer		ISO	RGD:1312484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304819	Cdc23	cell division cycle 23	gene	DOID:5223	infertility		ISS	RGD:1312485	D	RGD:13592920	20240314	MouseDO			
1304819	Cdc23	cell division cycle 23	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304819	Cdc23	cell division cycle 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304819	Cdc23	cell division cycle 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605646	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34648132
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:0051064	left ventricular failure		ISO	RGD:1605646	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34648132
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:0081292	traumatic brain injury		IEP		D	RGD:329901857|PMID:31992337	20230627	RGD		mRNA:decreased expression:cerebral cortex	
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1605646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9000197	Edema		ISO	RGD:1605646	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34648132
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:1605646	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34648132
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9005749	Necrosis		ISO	RGD:1605646	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34648132
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1605646	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35226250
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1605646	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35226250
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304822	Mettl14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	gene	DOID:9538	multiple myeloma		ISO	RGD:1605646	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35038059
1304823	Kdm8	lysine demethylase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1602684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304823	Kdm8	lysine demethylase 8	gene	DOID:1115	sarcoma		ISO	RGD:1602684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304823	Kdm8	lysine demethylase 8	gene	DOID:1612	breast cancer		ISO	RGD:1602684	D	RGD:9587844|PMID:20457893	20141021	RGD		mRNA:increased expression:breast (human)	
1304823	Kdm8	lysine demethylase 8	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1602684	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome	PMID:25741868
1304823	Kdm8	lysine demethylase 8	gene	DOID:3070	high grade glioma		ISO	RGD:1602684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304823	Kdm8	lysine demethylase 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1602684	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304823	Kdm8	lysine demethylase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304823	Kdm8	lysine demethylase 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602684	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1304825	Timcc	TIM double twin CX3C motif chaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304825	Timcc	TIM double twin CX3C motif chaperone	gene	DOID:10534	stomach cancer		ISO	RGD:1605923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304825	Timcc	TIM double twin CX3C motif chaperone	gene	DOID:1115	sarcoma		ISO	RGD:1605923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304825	Timcc	TIM double twin CX3C motif chaperone	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304825	Timcc	TIM double twin CX3C motif chaperone	gene	DOID:9849	Meniere's disease		ISO	RGD:1605923	D	RGD:8554872	20150210	ClinVar		ClinVar Annotator: match by term: MENIERE DISEASE	PMID:25305078
1304826	Alg12	ALG12, alpha-1,6-mannosyltransferase	gene	DOID:0080559	congenital disorder of glycosylation Ig		ISO	RGD:1312492	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304826	Alg12	ALG12, alpha-1,6-mannosyltransferase	gene	DOID:0080559	congenital disorder of glycosylation Ig		ISO	RGD:1312492	D	RGD:7240710	20130221	OMIM			
1304826	Alg12	ALG12, alpha-1,6-mannosyltransferase	gene	DOID:0080559	congenital disorder of glycosylation Ig		ISO	RGD:1312492	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation | ClinVar Annotator: match by term: ALG12-related disorder | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ig	PMID:11983712|PMID:12217961|PMID:15639192|PMID:16199547|PMID:16435218|PMID:17506107|PMID:17576681|PMID:21029365|PMID:21315133|PMID:25019053|PMID:25741868|PMID:28492532|PMID:30266093|PMID:31481313|PMID:33461977|PMID:35279850|PMID:36064943|PMID:38959600|PMID:9536098
1304826	Alg12	ALG12, alpha-1,6-mannosyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304826	Alg12	ALG12, alpha-1,6-mannosyltransferase	gene	DOID:11836	clubfoot		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:15639192|PMID:25019053|PMID:28492532|PMID:31481313
1304826	Alg12	ALG12, alpha-1,6-mannosyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304826	Alg12	ALG12, alpha-1,6-mannosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304826	Alg12	ALG12, alpha-1,6-mannosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1312492	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304826	Alg12	ALG12, alpha-1,6-mannosyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304826	Alg12	ALG12, alpha-1,6-mannosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1304826	Alg12	ALG12, alpha-1,6-mannosyltransferase	gene	DOID:9003279	Joint Dislocations		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	PMID:15639192|PMID:25019053|PMID:28492532|PMID:31481313
1304826	Alg12	ALG12, alpha-1,6-mannosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304826	Alg12	ALG12, alpha-1,6-mannosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304827	Pomgnt2	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1332253	D	RGD:11532770|PMID:26060116	20160907	RGD			
1304827	Pomgnt2	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1606199	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1304827	Pomgnt2	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	gene	DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8		ISO	RGD:1606199	D	RGD:7240710	20140911	OMIM			
1304827	Pomgnt2	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	gene	DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8		ISO	RGD:1606199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED	PMID:22958903|PMID:25741868|PMID:26436962|PMID:26467025|PMID:27066570|PMID:27708273|PMID:28492532|PMID:32570172|PMID:33057194|PMID:35131284|PMID:35229910|PMID:35533453|PMID:35982159|PMID:37432431
1304827	Pomgnt2	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	gene	DOID:0112382	muscular dystrophy-dystroglycanopathy type C8		ISO	RGD:1606199	D	RGD:7240710	20190315	OMIM			
1304827	Pomgnt2	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	gene	DOID:0112382	muscular dystrophy-dystroglycanopathy type C8		ISO	RGD:1606199	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT2-RELATED | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	PMID:25741868|PMID:27066570|PMID:28492532|PMID:32570172|PMID:35131284
1304827	Pomgnt2	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	gene	DOID:10908	hydrocephalus		ISO	RGD:1606199	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Severe hydrocephalus	PMID:22958903|PMID:25741868|PMID:28492532|PMID:31130284
1304827	Pomgnt2	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	gene	DOID:630	genetic disease		ISO	RGD:1606199	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:35131284|PMID:35533453|PMID:37432431
1304829	Med13	mediator complex subunit 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304829	Med13	mediator complex subunit 13	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312495	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1304829	Med13	mediator complex subunit 13	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1304829	Med13	mediator complex subunit 13	gene	DOID:0061034	autosomal dominant intellectual developmental disorder 61		ISO	RGD:1312495	D	RGD:7240710	20200226	OMIM			
1304829	Med13	mediator complex subunit 13	gene	DOID:0061034	autosomal dominant intellectual developmental disorder 61		ISO	RGD:1312495	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 | ClinVar Annotator: match by term: Intellectual developmental disorder 61 | ClinVar Annotator: match by term: MED13-related condition	PMID:25741868|PMID:28492532|PMID:29740199|PMID:29740699|PMID:29758562|PMID:35982160|PMID:36087421|PMID:38528425|PMID:38958063
1304829	Med13	mediator complex subunit 13	gene	DOID:0070043	autosomal dominant intellectual developmental disorder 13		ISO	RGD:1312495	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13	PMID:25741868
1304829	Med13	mediator complex subunit 13	gene	DOID:0080855	Parkinsonism		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868|PMID:35982160|PMID:38958063
1304829	Med13	mediator complex subunit 13	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss	
1304829	Med13	mediator complex subunit 13	gene	DOID:10488	imperforate anus		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868|PMID:35982160|PMID:38958063
1304829	Med13	mediator complex subunit 13	gene	DOID:1059	intellectual disability		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:35982160|PMID:38958063
1304829	Med13	mediator complex subunit 13	gene	DOID:10907	microcephaly		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:35982160|PMID:38958063
1304829	Med13	mediator complex subunit 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304829	Med13	mediator complex subunit 13	gene	DOID:1115	sarcoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304829	Med13	mediator complex subunit 13	gene	DOID:12849	autistic disorder		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:35982160|PMID:38958063
1304829	Med13	mediator complex subunit 13	gene	DOID:1324	lung cancer		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304829	Med13	mediator complex subunit 13	gene	DOID:1682	congenital heart disease		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
1304829	Med13	mediator complex subunit 13	gene	DOID:1826	epilepsy		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	
1304829	Med13	mediator complex subunit 13	gene	DOID:2030	anxiety disorder		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:35982160|PMID:38958063
1304829	Med13	mediator complex subunit 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304829	Med13	mediator complex subunit 13	gene	DOID:3070	high grade glioma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304829	Med13	mediator complex subunit 13	gene	DOID:3087	gingivitis		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:35982160|PMID:38958063
1304829	Med13	mediator complex subunit 13	gene	DOID:3275	thymoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304829	Med13	mediator complex subunit 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304829	Med13	mediator complex subunit 13	gene	DOID:4362	cervical cancer		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304829	Med13	mediator complex subunit 13	gene	DOID:480	movement disease		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:35982160|PMID:38958063
1304829	Med13	mediator complex subunit 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1312495	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304829	Med13	mediator complex subunit 13	gene	DOID:540	strabismus		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1304829	Med13	mediator complex subunit 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304829	Med13	mediator complex subunit 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304829	Med13	mediator complex subunit 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304829	Med13	mediator complex subunit 13	gene	DOID:630	genetic disease		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:29740699|PMID:35982160|PMID:38958063
1304829	Med13	mediator complex subunit 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304829	Med13	mediator complex subunit 13	gene	DOID:8927	learning disability		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Learning disability	PMID:25741868
1304829	Med13	mediator complex subunit 13	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:35982160|PMID:38958063
1304829	Med13	mediator complex subunit 13	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1304829	Med13	mediator complex subunit 13	gene	DOID:9003816	Macrocephaly		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1304829	Med13	mediator complex subunit 13	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312495	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1304829	Med13	mediator complex subunit 13	gene	DOID:9004507	Hirsutism		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	
1304829	Med13	mediator complex subunit 13	gene	DOID:9005077	Joint Instability		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:35982160|PMID:38958063
1304829	Med13	mediator complex subunit 13	gene	DOID:9006102	Right Ventricular Hypertrophy		IEP		D	RGD:9681715|PMID:25287062	20141203	RGD		associated with Hypertension, Pulmonary	
1304829	Med13	mediator complex subunit 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304829	Med13	mediator complex subunit 13	gene	DOID:9007661	Dwarfism		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1304829	Med13	mediator complex subunit 13	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:35982160|PMID:38958063
1304829	Med13	mediator complex subunit 13	gene	DOID:9008268	Enuresis		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	PMID:25741868
1304829	Med13	mediator complex subunit 13	gene	DOID:9008582	Developmental Disease		ISO	RGD:1312495	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1304829	Med13	mediator complex subunit 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304829	Med13	mediator complex subunit 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304829	Med13	mediator complex subunit 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304829	Med13	mediator complex subunit 13	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	
1304829	Med13	mediator complex subunit 13	gene	DOID:9840	esotropia		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
1304829	Med13	mediator complex subunit 13	gene	DOID:9970	obesity		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1304830	Otop2	otopetrin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304830	Otop2	otopetrin 2	gene	DOID:9849	Meniere's disease		ISO	RGD:1312497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:30311386
1304831	Il4i1	interleukin 4 induced 1	gene	DOID:0060058	lymphoma		ISO	RGD:1312498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304831	Il4i1	interleukin 4 induced 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304831	Il4i1	interleukin 4 induced 1	gene	DOID:1909	melanoma		ISO	RGD:1312498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304831	Il4i1	interleukin 4 induced 1	gene	DOID:3275	thymoma		ISO	RGD:1312498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304831	Il4i1	interleukin 4 induced 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304831	Il4i1	interleukin 4 induced 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304831	Il4i1	interleukin 4 induced 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1312498	D	RGD:11554173	20230606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36537648
1304831	Il4i1	interleukin 4 induced 1	gene	DOID:9005372	Inflammation		ISO	RGD:1312498	D	RGD:11554173	20230606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36537648
1304831	Il4i1	interleukin 4 induced 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:1312500	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:29653220|PMID:30124830|PMID:30373780|PMID:32314272|PMID:33909043|PMID:9536098
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:16199547|PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25326637|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28492532|PMID:28493438|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31791873|PMID:32314272|PMID:32376792|PMID:32403337|PMID:32571458|PMID:33294374|PMID:33909043|PMID:9536098
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:16199547|PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:6492094|PMID:9536098
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:16199547|PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:30373780|PMID:31130284|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:34645488|PMID:34650302|PMID:6492094|PMID:7842019|PMID:9536098
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:16199547|PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25640679|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:30373780|PMID:31130284|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:34645488|PMID:34650302|PMID:6492094|PMID:7842019|PMID:9536098
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:16199547|PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:24627108|PMID:25640679|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:31069529|PMID:31130284|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33144514|PMID:33294374|PMID:33369814|PMID:33753480|PMID:34446925|PMID:34645488|PMID:34650302|PMID:34813128|PMID:7842019|PMID:9536098
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:16199547|PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:24627108|PMID:25640679|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:27164712|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:31069529|PMID:31130284|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33144514|PMID:33294374|PMID:33369814|PMID:33753480|PMID:34446925|PMID:34645488|PMID:34650302|PMID:34813128|PMID:7842019|PMID:9536098
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:16199547|PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:24627108|PMID:25640679|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:27164712|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:31130284|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33144514|PMID:33294374|PMID:33369814|PMID:33753480|PMID:34446925|PMID:34645488|PMID:34650302|PMID:34813128|PMID:38221827|PMID:7842019|PMID:9536098
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0061023	nonphotosensitive trichothiodystrophy 8		ISO	RGD:1312500	D	RGD:7240710	20220112	OMIM			
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0061023	nonphotosensitive trichothiodystrophy 8		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE | ClinVar Annotator: match by term: Trichothiodystrophy 8, nonphotosensitive	PMID:25741868|PMID:28492532|PMID:33909043
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0080451	developmental and epileptic encephalopathy 29		ISO	RGD:1312500	D	RGD:7240710	20160810	OMIM			
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0080451	developmental and epileptic encephalopathy 29		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 29 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 29	PMID:21494555|PMID:25741868|PMID:25817015|PMID:28492532|PMID:28493438|PMID:29653220|PMID:32571458|PMID:33294374|PMID:34446925
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia		ISO	RGD:1312500	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids	PMID:31775912
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0110177	Charcot-Marie-Tooth disease axonal type 2N		ISO	RGD:1312500	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0110177	Charcot-Marie-Tooth disease axonal type 2N		ISO	RGD:1312500	D	RGD:7240710	20130221	OMIM			
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:0110177	Charcot-Marie-Tooth disease axonal type 2N		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N	PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:25741868|PMID:25817015|PMID:26032230|PMID:26257172|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:31827005|PMID:32314272|PMID:33294374|PMID:34446925|PMID:7842019
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1312500	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27549087|PMID:28492532|PMID:29653220|PMID:32314272|PMID:32376792|PMID:32403337|PMID:33294374|PMID:9536098
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27549087|PMID:28492532|PMID:29653220|PMID:32314272|PMID:32376792|PMID:33294374|PMID:33753480|PMID:34446925|PMID:34813128|PMID:9536098
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:1115	sarcoma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:11252	microcytic anemia		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:25741868
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:11759	hypochromic anemia		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypochromic anemia	PMID:25741868
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:11836	clubfoot		ISO	RGD:1312500	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1312500	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:1324	lung cancer		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:25817015|PMID:28492532|PMID:28493438|PMID:34446925
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:16199547|PMID:25741868|PMID:25817015|PMID:28492532|PMID:28493438|PMID:34446925|PMID:34650302
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:480	movement disease		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312500	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:540	strabismus		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:583	hemolytic anemia		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:25741868
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1312500	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17576681|PMID:21494555|PMID:22009580|PMID:22206013|PMID:25025039|PMID:25741868|PMID:25817015|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31827005|PMID:32376792|PMID:33294374|PMID:34446925|PMID:9536098
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21494555|PMID:22009580|PMID:22206013|PMID:25741868|PMID:25817015|PMID:26257172|PMID:27993330|PMID:28492532|PMID:28902413|PMID:29653220|PMID:30124830|PMID:31827005|PMID:32376792|PMID:33294374|PMID:38221827
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:7319	axonal neuropathy		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:870	neuropathy		ISO	RGD:1312500	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868|PMID:25817015|PMID:28492532|PMID:28493438|PMID:34446925
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9007874	Liver Failure		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:25741868
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25817015|PMID:28492532|PMID:28493438|PMID:34446925
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9008175	Hereditary Diffuse Leukoencephalopathy with Spheroids 2		ISO	RGD:1312500	D	RGD:7240710	20220112	OMIM			
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9008175	Hereditary Diffuse Leukoencephalopathy with Spheroids 2		ISO	RGD:1312500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS, SWEDISH TYPE | ClinVar Annotator: match by term: Leukoencephalopathy, hereditary diffuse, with spheroids 2	PMID:25741868|PMID:28492532
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
1304832	Aars1	alanyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304833	Rc3h2	ring finger and CCCH-type domains 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304833	Rc3h2	ring finger and CCCH-type domains 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304833	Rc3h2	ring finger and CCCH-type domains 2	gene	DOID:0060058	lymphoma		ISO	RGD:1312502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304833	Rc3h2	ring finger and CCCH-type domains 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304833	Rc3h2	ring finger and CCCH-type domains 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304833	Rc3h2	ring finger and CCCH-type domains 2	gene	DOID:1115	sarcoma		ISO	RGD:1312502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304833	Rc3h2	ring finger and CCCH-type domains 2	gene	DOID:1909	melanoma		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304833	Rc3h2	ring finger and CCCH-type domains 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304833	Rc3h2	ring finger and CCCH-type domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304833	Rc3h2	ring finger and CCCH-type domains 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1304833	Rc3h2	ring finger and CCCH-type domains 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304833	Rc3h2	ring finger and CCCH-type domains 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304833	Rc3h2	ring finger and CCCH-type domains 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304833	Rc3h2	ring finger and CCCH-type domains 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304834	Rtkn2	rhotekin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304834	Rtkn2	rhotekin 2	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:1312504	D	RGD:8554872	20240702	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2	
1304834	Rtkn2	rhotekin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304834	Rtkn2	rhotekin 2	gene	DOID:1115	sarcoma		ISO	RGD:1312504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304834	Rtkn2	rhotekin 2	gene	DOID:1324	lung cancer		ISO	RGD:1312504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304834	Rtkn2	rhotekin 2	gene	DOID:3275	thymoma		ISO	RGD:1312504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304834	Rtkn2	rhotekin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304834	Rtkn2	rhotekin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304834	Rtkn2	rhotekin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304834	Rtkn2	rhotekin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1312504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304835	Calhm6	calcium homeostasis modulator family member 6	gene	DOID:1826	epilepsy		ISO	RGD:1605771	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy	
1304836	Gatd1	glutamine amidotransferase class 1 domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304836	Gatd1	glutamine amidotransferase class 1 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304836	Gatd1	glutamine amidotransferase class 1 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304836	Gatd1	glutamine amidotransferase class 1 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304837	Gphra	golgi pH regulator A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:625785787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304837	Gphra	golgi pH regulator A	gene	DOID:1324	lung cancer		ISO	RGD:625785787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304837	Gphra	golgi pH regulator A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:625785787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304837	Gphra	golgi pH regulator A	gene	DOID:4362	cervical cancer		ISO	RGD:625785787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304837	Gphra	golgi pH regulator A	gene	DOID:5041	esophageal cancer		ISO	RGD:625785787	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304837	Gphra	golgi pH regulator A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:625785787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304837	Gphra	golgi pH regulator A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:625785787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304840	Ttc34	tetratricopeptide repeat domain 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2293894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304840	Ttc34	tetratricopeptide repeat domain 34	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2293894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304840	Ttc34	tetratricopeptide repeat domain 34	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2293894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304840	Ttc34	tetratricopeptide repeat domain 34	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2293894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304841	Ctdspl	CTD small phosphatase like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304841	Ctdspl	CTD small phosphatase like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304841	Ctdspl	CTD small phosphatase like	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1345284	D	RGD:153350086|PMID:22491060	20220906	RGD		mRNA:decreased expression:lung (human)	
1304841	Ctdspl	CTD small phosphatase like	gene	DOID:5041	esophageal cancer		ISO	RGD:1345284	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304841	Ctdspl	CTD small phosphatase like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:0111217	autosomal dominant centronuclear myopathy		ISO	RGD:1605051	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF	PMID:17008356|PMID:19590496|PMID:25741868|PMID:28492532
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:0111223	centronuclear myopathy 1		ISO	RGD:1605051	D	RGD:7240710	20130221	OMIM			
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:0111223	centronuclear myopathy 1		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MTMR14-related condition	PMID:28492532
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:10534	stomach cancer		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:1115	sarcoma		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:1324	lung cancer		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:1909	melanoma		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1605051	D	RGD:11554173	20221213	CTD		CTD Direct Evidence: marker/mechanism	PMID:30365097
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:422	congenital structural myopathy		ISO	RGD:1605051	D	RGD:11554173	20180724	CTD		CTD Direct Evidence: marker/mechanism	
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304842	Mtmr14	myotubularin related protein 14	gene	DOID:9256	colorectal cancer		ISO	RGD:1605051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304843	Vill	villin-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304843	Vill	villin-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304843	Vill	villin-like	gene	DOID:10534	stomach cancer		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304843	Vill	villin-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304843	Vill	villin-like	gene	DOID:1115	sarcoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304843	Vill	villin-like	gene	DOID:1909	melanoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304843	Vill	villin-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304843	Vill	villin-like	gene	DOID:2394	ovarian cancer		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304843	Vill	villin-like	gene	DOID:3275	thymoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304843	Vill	villin-like	gene	DOID:4362	cervical cancer		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304843	Vill	villin-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1347824	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304843	Vill	villin-like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304843	Vill	villin-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304843	Vill	villin-like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304843	Vill	villin-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304843	Vill	villin-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304843	Vill	villin-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304846	Amz2	archaelysin family metallopeptidase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304846	Amz2	archaelysin family metallopeptidase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304846	Amz2	archaelysin family metallopeptidase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1605392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304846	Amz2	archaelysin family metallopeptidase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304846	Amz2	archaelysin family metallopeptidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605392	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304846	Amz2	archaelysin family metallopeptidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304846	Amz2	archaelysin family metallopeptidase 2	gene	DOID:9006737	Monoclonal B-Cell Lymphocytosis		ISO	RGD:1605392	D	RGD:8554872	20160322	ClinVar		ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis	
1304846	Amz2	archaelysin family metallopeptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304847	Zfp444	zinc finger protein 444	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304847	Zfp444	zinc finger protein 444	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304848	Traf3ip3	TRAF3 interacting protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304848	Traf3ip3	TRAF3 interacting protein 3	gene	DOID:1909	melanoma		ISO	RGD:1604284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304848	Traf3ip3	TRAF3 interacting protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604284	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304848	Traf3ip3	TRAF3 interacting protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304848	Traf3ip3	TRAF3 interacting protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312522	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304849	Atad2	ATPase family, AAA domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:0050860	colorectal adenoma	ameliorates	ISO	RGD:1312524	D	RGD:9068941	20220204	RGD		protein:increased expression:colorectal mucosa (human)	PMID:19156145|REF_RGD_ID:151347861
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312524	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:0060058	lymphoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:0070681	congenital hydrocephalus		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hydrocephalus	PMID:25741868|PMID:29983323
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:0080199	colorectal carcinoma	exacerbates	ISO	RGD:1312524	D	RGD:151347859|PMID:30144500	20220204	RGD		protein:increased expression:colorectum (human)	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:1115	sarcoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:1909	melanoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:299	adenocarcinoma		ISO	RGD:1312524	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:3275	thymoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1312524	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:4362	cervical cancer		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1312524	D	RGD:127285652|PMID:33532313	20210624	RGD			
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:630	genetic disease		ISO	RGD:1312524	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:37639281
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1312524	D	RGD:151347860|PMID:32514535	20220204	RGD		mRNA, protein:increased expression:liver (human)	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312524	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9002758	Congenital Hydrocephalus 5		ISO	RGD:1312524	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, 5, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hydrocephalus, congenital, 5, susceptibility to | ClinVar Annotator: match by term: SMARCC1-associated developmental dysgenesis syndrome | ClinVar Annotator: match by term: SMARCC1-related disorder	PMID:25741868
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9002758	Congenital Hydrocephalus 5	susceptibility	ISO	RGD:1312524	D	RGD:7240710	20230505	OMIM			
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1312524	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1312524	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9008840	DNA Repair-Deficiency Disorders		ISO	RGD:1312524	D	RGD:126848759|PMID:31922331	20220204	RGD		associated with gastric carcinoma;protein:decreased expression:stomach (human)	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304850	Smarcc1	SWI/SNF related BAF chromatin remodeling complex subunit C1	gene	DOID:9256	colorectal cancer		ISO	RGD:1312524	D	RGD:151347862|PMID:32606978	20220204	RGD		RNA:increased expression:colorectum (human)	
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:0070738	Al Kaissi syndrome		ISO	RGD:1312526	D	RGD:7240710	20190315	OMIM			
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:0070738	Al Kaissi syndrome		ISO	RGD:1312526	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AL KAISSI SYNDROME | ClinVar Annotator: match by term: Al Kaissi syndrome | ClinVar Annotator: match by term: CDK10-related condition | ClinVar Annotator: match by term: GROWTH RETARDATION, SPINE MALFORMATION, DYSMORPHIC FACIES, AND DEVELOPMENTAL DELAY	PMID:25741868|PMID:26539891|PMID:28886341|PMID:29130579
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:1115	sarcoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:1324	lung cancer		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: patent ductus arteriosus	PMID:25741868
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:1909	melanoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:3275	thymoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:4362	cervical cancer		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:630	genetic disease		ISO	RGD:1312526	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26539891|PMID:29130579
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304851	Cdk10	cyclin-dependent kinase 10	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312526	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1304853	Dlx2	distal-less homeobox 2	gene	DOID:12849	autistic disorder		ISO	RGD:1312529	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18728693
1304853	Dlx2	distal-less homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304853	Dlx2	distal-less homeobox 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304853	Dlx2	distal-less homeobox 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1312529	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9187081
1304854	Plekhh3	pleckstrin homology, MyTH4 and FERM domain containing H3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304854	Plekhh3	pleckstrin homology, MyTH4 and FERM domain containing H3	gene	DOID:1324	lung cancer		ISO	RGD:1602457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304854	Plekhh3	pleckstrin homology, MyTH4 and FERM domain containing H3	gene	DOID:1909	melanoma		ISO	RGD:1602457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304854	Plekhh3	pleckstrin homology, MyTH4 and FERM domain containing H3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304854	Plekhh3	pleckstrin homology, MyTH4 and FERM domain containing H3	gene	DOID:4362	cervical cancer		ISO	RGD:1602457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304854	Plekhh3	pleckstrin homology, MyTH4 and FERM domain containing H3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304854	Plekhh3	pleckstrin homology, MyTH4 and FERM domain containing H3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304854	Plekhh3	pleckstrin homology, MyTH4 and FERM domain containing H3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304854	Plekhh3	pleckstrin homology, MyTH4 and FERM domain containing H3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304855	Capn7	calpain 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304855	Capn7	calpain 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304855	Capn7	calpain 7	gene	DOID:1324	lung cancer		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304855	Capn7	calpain 7	gene	DOID:1909	melanoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304855	Capn7	calpain 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304855	Capn7	calpain 7	gene	DOID:3275	thymoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304855	Capn7	calpain 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304855	Capn7	calpain 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304855	Capn7	calpain 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304855	Capn7	calpain 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1312532	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304855	Capn7	calpain 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304855	Capn7	calpain 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304855	Capn7	calpain 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304855	Capn7	calpain 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304857	Slf1	SMC5/6 complex localization factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304857	Slf1	SMC5/6 complex localization factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304857	Slf1	SMC5/6 complex localization factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1312535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304857	Slf1	SMC5/6 complex localization factor 1	gene	DOID:1909	melanoma		ISO	RGD:1312535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304857	Slf1	SMC5/6 complex localization factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312535	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304857	Slf1	SMC5/6 complex localization factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304857	Slf1	SMC5/6 complex localization factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304857	Slf1	SMC5/6 complex localization factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1312535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1312537	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:10534	stomach cancer		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:1115	sarcoma		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:1324	lung cancer		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:1909	melanoma		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:4362	cervical cancer		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:5419	schizophrenia		ISO	RGD:1312537	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23042115
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1312537	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304858	Vps39	VPS39 subunit of HOPS complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304859	Sh3glb1	SH3 domain -containing GRB2-like endophilin B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304859	Sh3glb1	SH3 domain -containing GRB2-like endophilin B1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312539	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304859	Sh3glb1	SH3 domain -containing GRB2-like endophilin B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304860	Ube2g2	ubiquitin-conjugating enzyme E2G 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304860	Ube2g2	ubiquitin-conjugating enzyme E2G 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304860	Ube2g2	ubiquitin-conjugating enzyme E2G 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304861	Cuedc1	CUE domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304861	Cuedc1	CUE domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1349850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304861	Cuedc1	CUE domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304861	Cuedc1	CUE domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304861	Cuedc1	CUE domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304861	Cuedc1	CUE domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304864	Tfap2d	transcription factor AP-2 delta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304865	Muc20	mucin 20, cell surface associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304865	Muc20	mucin 20, cell surface associated	gene	DOID:0060058	lymphoma		ISO	RGD:1312550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304865	Muc20	mucin 20, cell surface associated	gene	DOID:0080162	lupus nephritis		ISO	RGD:1312551	D	RGD:7364790|PMID:14565953	20130927	RGD			
1304865	Muc20	mucin 20, cell surface associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304865	Muc20	mucin 20, cell surface associated	gene	DOID:1324	lung cancer		ISO	RGD:1312550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304865	Muc20	mucin 20, cell surface associated	gene	DOID:2986	IgA glomerulonephritis	disease_progression	ISO	RGD:1312550	D	RGD:7364789|PMID:16508246	20130927	RGD		DNA:repeat	
1304865	Muc20	mucin 20, cell surface associated	gene	DOID:3021	acute kidney failure		ISO	RGD:1312551	D	RGD:7364790|PMID:14565953	20130927	RGD			
1304865	Muc20	mucin 20, cell surface associated	gene	DOID:4362	cervical cancer		ISO	RGD:1312550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304865	Muc20	mucin 20, cell surface associated	gene	DOID:5199	ureteral obstruction		ISO	RGD:1312551	D	RGD:7364790|PMID:14565953	20130927	RGD			
1304865	Muc20	mucin 20, cell surface associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304865	Muc20	mucin 20, cell surface associated	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304865	Muc20	mucin 20, cell surface associated	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1304865	Muc20	mucin 20, cell surface associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304865	Muc20	mucin 20, cell surface associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304866	Lrrtm3	leucine rich repeat transmembrane neuronal 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312552	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20678249
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:0060915	proteosome-associated autoinflammatory syndrome 4		ISO	RGD:1312554	D	RGD:7240710	20210303	OMIM			
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:0060915	proteosome-associated autoinflammatory syndrome 4		ISO	RGD:1312554	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: PSMG2-related condition | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:30664889|PMID:9536098
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:11830	myopia		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:1596	depressive disorder		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:2841	asthma		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
1304867	Psmg2	proteasome assembly chaperone 2	gene	DOID:9970	obesity		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1304868	Dph7	diphthamide biosynthesis 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304868	Dph7	diphthamide biosynthesis 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304868	Dph7	diphthamide biosynthesis 7	gene	DOID:10283	prostate cancer		ISO	RGD:1312556	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1304868	Dph7	diphthamide biosynthesis 7	gene	DOID:10283	prostate cancer		ISO	RGD:1312556	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1304868	Dph7	diphthamide biosynthesis 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304868	Dph7	diphthamide biosynthesis 7	gene	DOID:1324	lung cancer		ISO	RGD:1312556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304868	Dph7	diphthamide biosynthesis 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304868	Dph7	diphthamide biosynthesis 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304868	Dph7	diphthamide biosynthesis 7	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304868	Dph7	diphthamide biosynthesis 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304868	Dph7	diphthamide biosynthesis 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:0050581	brachydactyly		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:31623504|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:31623504|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:1059	intellectual disability		ISO	RGD:1601867	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868|PMID:28492532
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:1059	intellectual disability		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:31623504|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:10907	microcephaly		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: microcephaly	PMID:25741868|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:31623504|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:1439	pyuria		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyuria	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:1826	epilepsy		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:1827	generalized epilepsy		ISO	RGD:1601867	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:1909	melanoma		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:1924	hypogonadism		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:31623504|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:31623504|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:3275	thymoma		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:5003	eunuchism		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Male hypogonadism	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1601867	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:5199	ureteral obstruction		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ureteral obstruction	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:540	strabismus		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:576	proteinuria		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:630	genetic disease		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:8488	polyhydramnios		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9002745	Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures		ISO	RGD:1601867	D	RGD:7240710	20190315	OMIM			
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9002745	Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PRMT7-related condition | ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9003507	Premature Birth		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9004538	Hearing Loss		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:25741868|PMID:2643702|PMID:26437029|PMID:27718516|PMID:28492532|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:31623504|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin resistance	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:31623504|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:930	orbital disease		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9351	diabetes mellitus		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:28492532
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9452	steatotic liver disease		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:31623504|PMID:36399134
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9840	esotropia		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
1304869	Prmt7	protein arginine methyltransferase 7	gene	DOID:9970	obesity		ISO	RGD:1601867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:31623504|PMID:36399134
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1312564	D	RGD:11554173	20240903	CTD		CTD Direct Evidence: therapeutic	PMID:33779332
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:0111998	immunodeficiency 66		ISO	RGD:1312564	D	RGD:7240710	20200429	OMIM			
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:0111998	immunodeficiency 66		ISO	RGD:1312564	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 66 | ClinVar Annotator: match by term: MRTFA-related condition	PMID:25741868|PMID:28492532
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:10652	Alzheimer's disease		IEP		D	RGD:596933302|PMID:27387387	20241218	RGD		protein:altered expression:brain cortex	
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:1115	sarcoma		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:11830	myopia		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:1596	depressive disorder		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:2030	anxiety disorder		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:224	transient cerebral ischemia	disease_progression	IEP		D	RGD:596933303|PMID:28230854	20241218	RGD			
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:2841	asthma		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:3312	bipolar disorder		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:5082	liver cirrhosis		ISO	RGD:1312564	D	RGD:11554173	20240903	CTD		CTD Direct Evidence: therapeutic	PMID:33779332
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:5082	liver cirrhosis	ameliorates	ISO	RGD:1312565	D	RGD:11555770|PMID:26693892	20241205	RGD			
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:8761	acute megakaryocytic leukemia		ISO	RGD:1312564	D	RGD:1599948|PMID:11431691	20070221	RGD			
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:9001733	Tinnitus		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:9003539	Hyperacusis		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:9003936	Cardiomegaly		IEP		D	RGD:596933353|PMID:25633973	20241219	RGD			
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:9004657	Weight Gain		ISO	RGD:1312564	D	RGD:11554173	20240903	CTD		CTD Direct Evidence: therapeutic	PMID:33779332
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:9007736	Vertigo		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:9008421	Epistaxis		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:9834	hyperopia		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1304873	Mrtfa	myocardin related transcription factor A	gene	DOID:9970	obesity		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1304874	Rexo2	RNA exonuclease 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304874	Rexo2	RNA exonuclease 2	gene	DOID:1115	sarcoma		ISO	RGD:1603665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304874	Rexo2	RNA exonuclease 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304874	Rexo2	RNA exonuclease 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304874	Rexo2	RNA exonuclease 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304874	Rexo2	RNA exonuclease 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304874	Rexo2	RNA exonuclease 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304874	Rexo2	RNA exonuclease 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304875	Dlx3	distal-less homeobox 3	gene	DOID:0050591	tooth agenesis		ISO	RGD:1312567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligodontia	
1304875	Dlx3	distal-less homeobox 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304875	Dlx3	distal-less homeobox 3	gene	DOID:0110053	amelogenesis imperfecta type 4		ISO	RGD:1312567	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304875	Dlx3	distal-less homeobox 3	gene	DOID:0110053	amelogenesis imperfecta type 4		ISO	RGD:1312567	D	RGD:7240710	20130221	OMIM			
1304875	Dlx3	distal-less homeobox 3	gene	DOID:0110053	amelogenesis imperfecta type 4		ISO	RGD:1312567	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV | ClinVar Annotator: match by term: DLX3-related condition	PMID:17950683|PMID:18492670|PMID:20510228|PMID:21520071|PMID:25741868|PMID:27924851|PMID:28492532|PMID:9361034|PMID:9467018
1304875	Dlx3	distal-less homeobox 3	gene	DOID:0111565	trichodontoosseous syndrome		ISO	RGD:1312567	D	RGD:7240710	20131030	OMIM			
1304875	Dlx3	distal-less homeobox 3	gene	DOID:0111565	trichodontoosseous syndrome		ISO	RGD:1312567	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tricho-dento-osseous syndrome | ClinVar Annotator: match by term: tricho-dento-osseous syndrome	PMID:17950683|PMID:18492670|PMID:20510228|PMID:21520071|PMID:25741868|PMID:26104267|PMID:27924851|PMID:28492532|PMID:35714441|PMID:9361034|PMID:9467018
1304875	Dlx3	distal-less homeobox 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304875	Dlx3	distal-less homeobox 3	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1312567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	
1304875	Dlx3	distal-less homeobox 3	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1312567	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta	PMID:25741868
1304875	Dlx3	distal-less homeobox 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312567	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304875	Dlx3	distal-less homeobox 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304875	Dlx3	distal-less homeobox 3	gene	DOID:630	genetic disease		ISO	RGD:1312567	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17950683|PMID:18492670|PMID:20510228|PMID:21520071|PMID:25741868|PMID:27924851|PMID:28492532|PMID:9361034|PMID:9467018
1304875	Dlx3	distal-less homeobox 3	gene	DOID:9003098	Taurodontism		ISO	RGD:1312567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Taurodontism	PMID:25741868
1304875	Dlx3	distal-less homeobox 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304876	Ggct	gamma-glutamyl cyclotransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304876	Ggct	gamma-glutamyl cyclotransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1312569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304876	Ggct	gamma-glutamyl cyclotransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304876	Ggct	gamma-glutamyl cyclotransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304876	Ggct	gamma-glutamyl cyclotransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304877	Trim44	tripartite motif-containing 44	gene	DOID:12271	aniridia		ISO	RGD:1312571	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1304877	Trim44	tripartite motif-containing 44	gene	DOID:1324	lung cancer		ISO	RGD:1312571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304877	Trim44	tripartite motif-containing 44	gene	DOID:1909	melanoma		ISO	RGD:1312571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304877	Trim44	tripartite motif-containing 44	gene	DOID:9001549	Aniridia 3		ISO	RGD:1312571	D	RGD:7240710	20190315	OMIM			
1304877	Trim44	tripartite motif-containing 44	gene	DOID:9001549	Aniridia 3		ISO	RGD:1312571	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aniridia 3	PMID:25741868
1304877	Trim44	tripartite motif-containing 44	gene	DOID:9003936	Cardiomegaly		IEP		D	RGD:329961579|PMID:35855640	20230726	RGD		mRNA,protein:increased expression:heart	
1304877	Trim44	tripartite motif-containing 44	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1312571	D	RGD:329961579|PMID:35855640	20230726	RGD		mRNA:increased expression:heart	
1304877	Trim44	tripartite motif-containing 44	gene	DOID:9003936	Cardiomegaly	ameliorates	IMP		D	RGD:329961579|PMID:35855640	20230726	RGD			
1304878	Atg2b	autophagy related 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304878	Atg2b	autophagy related 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312572	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304878	Atg2b	autophagy related 2B	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1312572	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26280900
1304878	Atg2b	autophagy related 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1312572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304878	Atg2b	autophagy related 2B	gene	DOID:1324	lung cancer		ISO	RGD:1312572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related condition | ClinVar Annotator: match by term: Lung cancer	
1304878	Atg2b	autophagy related 2B	gene	DOID:1909	melanoma		ISO	RGD:1312572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304878	Atg2b	autophagy related 2B	gene	DOID:3275	thymoma		ISO	RGD:1312572	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304878	Atg2b	autophagy related 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1312572	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304878	Atg2b	autophagy related 2B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304878	Atg2b	autophagy related 2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304878	Atg2b	autophagy related 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1312572	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304878	Atg2b	autophagy related 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304878	Atg2b	autophagy related 2B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304878	Atg2b	autophagy related 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304878	Atg2b	autophagy related 2B	gene	DOID:8692	myeloid leukemia		ISO	RGD:1312572	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26280900
1304878	Atg2b	autophagy related 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304878	Atg2b	autophagy related 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304878	Atg2b	autophagy related 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304880	Scube3	signal peptide, CUB domain and EGF like domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304880	Scube3	signal peptide, CUB domain and EGF like domain containing 3	gene	DOID:0112358	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2		ISO	RGD:1312575	D	RGD:7240710	20210303	OMIM			
1304880	Scube3	signal peptide, CUB domain and EGF like domain containing 3	gene	DOID:0112358	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2		ISO	RGD:1312575	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2 | ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	PMID:25741868|PMID:33308444
1304880	Scube3	signal peptide, CUB domain and EGF like domain containing 3	gene	DOID:10283	prostate cancer		ISO	RGD:1312575	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1304880	Scube3	signal peptide, CUB domain and EGF like domain containing 3	gene	DOID:10283	prostate cancer		ISO	RGD:1312575	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1304880	Scube3	signal peptide, CUB domain and EGF like domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312575	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304880	Scube3	signal peptide, CUB domain and EGF like domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304880	Scube3	signal peptide, CUB domain and EGF like domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304880	Scube3	signal peptide, CUB domain and EGF like domain containing 3	gene	DOID:630	genetic disease		ISO	RGD:1312575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1304880	Scube3	signal peptide, CUB domain and EGF like domain containing 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1312575	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1304880	Scube3	signal peptide, CUB domain and EGF like domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304880	Scube3	signal peptide, CUB domain and EGF like domain containing 3	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1312575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1304881	Dcaf15	DDB1 and CUL4 associated factor 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2306328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304881	Dcaf15	DDB1 and CUL4 associated factor 15	gene	DOID:1115	sarcoma		ISO	RGD:2306328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304881	Dcaf15	DDB1 and CUL4 associated factor 15	gene	DOID:1324	lung cancer		ISO	RGD:2306328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304881	Dcaf15	DDB1 and CUL4 associated factor 15	gene	DOID:4362	cervical cancer		ISO	RGD:2306328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304881	Dcaf15	DDB1 and CUL4 associated factor 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2306328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304881	Dcaf15	DDB1 and CUL4 associated factor 15	gene	DOID:5041	esophageal cancer		ISO	RGD:2306328	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304881	Dcaf15	DDB1 and CUL4 associated factor 15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:2306328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304881	Dcaf15	DDB1 and CUL4 associated factor 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2306328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304881	Dcaf15	DDB1 and CUL4 associated factor 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2306328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304883	Clpx	caseinolytic mitochondrial matrix peptidase chaperone subunit X	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304883	Clpx	caseinolytic mitochondrial matrix peptidase chaperone subunit X	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304883	Clpx	caseinolytic mitochondrial matrix peptidase chaperone subunit X	gene	DOID:1115	sarcoma		ISO	RGD:1312578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304883	Clpx	caseinolytic mitochondrial matrix peptidase chaperone subunit X	gene	DOID:1909	melanoma		ISO	RGD:1312578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304883	Clpx	caseinolytic mitochondrial matrix peptidase chaperone subunit X	gene	DOID:5041	esophageal cancer		ISO	RGD:1312578	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304883	Clpx	caseinolytic mitochondrial matrix peptidase chaperone subunit X	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304883	Clpx	caseinolytic mitochondrial matrix peptidase chaperone subunit X	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304883	Clpx	caseinolytic mitochondrial matrix peptidase chaperone subunit X	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304883	Clpx	caseinolytic mitochondrial matrix peptidase chaperone subunit X	gene	DOID:9009003	Erythropoietic Protoporphyria 2		ISO	RGD:1312578	D	RGD:7240710	20190315	OMIM			
1304883	Clpx	caseinolytic mitochondrial matrix peptidase chaperone subunit X	gene	DOID:9009003	Erythropoietic Protoporphyria 2		ISO	RGD:1312578	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: CLPX-related condition | ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 2 | ClinVar Annotator: match by term: protoporphyria, erythropoietic, 2	PMID:25741868|PMID:28492532|PMID:28874591
1304884	6430548M08Rikl	RIKEN cDNA 6430548M08 gene like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304884	6430548M08Rikl	RIKEN cDNA 6430548M08 gene like	gene	DOID:10534	stomach cancer		ISO	RGD:1351889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304884	6430548M08Rikl	RIKEN cDNA 6430548M08 gene like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304884	6430548M08Rikl	RIKEN cDNA 6430548M08 gene like	gene	DOID:1115	sarcoma		ISO	RGD:1351889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304884	6430548M08Rikl	RIKEN cDNA 6430548M08 gene like	gene	DOID:4362	cervical cancer		ISO	RGD:1351889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304884	6430548M08Rikl	RIKEN cDNA 6430548M08 gene like	gene	DOID:5041	esophageal cancer		ISO	RGD:1351889	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304884	6430548M08Rikl	RIKEN cDNA 6430548M08 gene like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304884	6430548M08Rikl	RIKEN cDNA 6430548M08 gene like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304884	6430548M08Rikl	RIKEN cDNA 6430548M08 gene like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304884	6430548M08Rikl	RIKEN cDNA 6430548M08 gene like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304884	6430548M08Rikl	RIKEN cDNA 6430548M08 gene like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:10534	stomach cancer		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:1115	sarcoma		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:1324	lung cancer		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:3070	high grade glioma		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304885	Sh3d19	SH3 domain containing 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304886	Tmem54	transmembrane protein 54	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304886	Tmem54	transmembrane protein 54	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304886	Tmem54	transmembrane protein 54	gene	DOID:4362	cervical cancer		ISO	RGD:1606187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304886	Tmem54	transmembrane protein 54	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304886	Tmem54	transmembrane protein 54	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304886	Tmem54	transmembrane protein 54	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606187	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304886	Tmem54	transmembrane protein 54	gene	DOID:9256	colorectal cancer		ISO	RGD:1606187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1312583	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1312583	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:1059	intellectual disability		ISO	RGD:1312583	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:11830	myopia		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:1596	depressive disorder		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:1909	melanoma		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312583	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1312583	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1304887	Dscaml1	DS cell adhesion molecule-like 1	gene	DOID:9834	hyperopia		ISO	RGD:1312583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:0050436	mulibrey nanism		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Perheentupa syndrome	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:0050675	Birk-Barel syndrome		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mental retardation with hypotonia and facial dysmorphism	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1312585	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1312585	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:1059	intellectual disability		ISO	RGD:1312585	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32427099|PMID:32439617|PMID:34438093|PMID:35146895|PMID:36648066
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:1059	intellectual disability		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:10629	microphthalmia		ISS	RGD:1312586	D	RGD:13592920	20210812	MouseDO			
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:10907	microcephaly		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:1115	sarcoma		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:11836	clubfoot		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:12215	oligohydramnios		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:12849	autistic disorder		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:1324	lung cancer		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:1826	epilepsy		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:1909	melanoma		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:2030	anxiety disorder		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:2340	craniosynostosis		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:480	movement disease		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:540	strabismus		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:543	dystonia		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:630	genetic disease		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:670	amphetamine abuse		ISO	RGD:1312585	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:83	cataract		ISS	RGD:1312586	D	RGD:13592920	20210812	MouseDO		OMIM:601371	
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312585	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:31278393|PMID:32427099
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:9005266	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES		ISO	RGD:1312585	D	RGD:7240710	20230830	OMIM			
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:9005266	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895|PMID:36648066
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:9005560	Congenital Hip Dislocation		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital hip dislocation	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32427099|PMID:32439617|PMID:34438093|PMID:35146895|PMID:36648066
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:9006366	Cataract 50 with or without Glaucoma		ISO	RGD:1312585	D	RGD:7240710	20230505	OMIM			
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:9006366	Cataract 50 with or without Glaucoma		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: TRPM3-related condition	PMID:25741868|PMID:28492532|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:9008633	Congenital Torticollis		ISO	RGD:1312585	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital muscular torticollis	PMID:25741868|PMID:31278393|PMID:32427099|PMID:32439617|PMID:35146895
1304888	Trpm3	transient receptor potential cation channel, subfamily M, member 3	gene	DOID:9970	obesity		ISO	RGD:1312585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1304890	Ufm1	ubiquitin-fold modifier 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304890	Ufm1	ubiquitin-fold modifier 1	gene	DOID:0080296	hypomyelinating leukodystrophy 14		ISO	RGD:1344837	D	RGD:7240710	20190315	OMIM			
1304890	Ufm1	ubiquitin-fold modifier 1	gene	DOID:0080296	hypomyelinating leukodystrophy 14		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 | ClinVar Annotator: match by term: UFM1-related condition	PMID:25741868|PMID:28492532|PMID:29868776
1304890	Ufm1	ubiquitin-fold modifier 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344837	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304890	Ufm1	ubiquitin-fold modifier 1	gene	DOID:1909	melanoma		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304890	Ufm1	ubiquitin-fold modifier 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304890	Ufm1	ubiquitin-fold modifier 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1344837	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
1304890	Ufm1	ubiquitin-fold modifier 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304890	Ufm1	ubiquitin-fold modifier 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304890	Ufm1	ubiquitin-fold modifier 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304890	Ufm1	ubiquitin-fold modifier 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304890	Ufm1	ubiquitin-fold modifier 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0050567	orofacial cleft		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0050902	medulloblastoma		ISO	RGD:1312590	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312590	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0060058	lymphoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0060135	apraxia		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0070062	Arboleda-Tham syndrome		ISO	RGD:1312590	D	RGD:7240710	20150513	OMIM			
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0070062	Arboleda-Tham syndrome		ISO	RGD:1312590	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARBOLEDA-THAM SYNDROME | ClinVar Annotator: match by term: Arboleda-Tham syndrome | ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 32	PMID:17374998|PMID:23431171|PMID:25728775|PMID:25728777|PMID:25741868|PMID:27133397|PMID:28492532|PMID:29758562|PMID:30245513|PMID:31292255|PMID:32041641|PMID:32477112|PMID:34748993|PMID:34930245|PMID:35892268|PMID:35904121|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intestinal pseudo-obstruction	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1312590	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:10534	stomach cancer		ISO	RGD:1312590	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:1059	intellectual disability		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:10907	microcephaly		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:1115	sarcoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1312591	D	RGD:9590333|PMID:22921202	20141125	RGD			
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:11198	DiGeorge syndrome		ISS	RGD:1312591	D	RGD:13592920	20180518	MouseDO		OMIM:188400	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:11383	cryptorchidism		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:11782	astigmatism		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:11830	myopia		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:12849	autistic disorder		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:1324	lung cancer		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:13620	patent foramen ovale		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:1459	hypothyroidism		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:1657	ventricular septal defect		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:1682	congenital heart disease		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:1826	epilepsy		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizures	PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:2030	anxiety disorder		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:2340	craniosynostosis		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868|PMID:30245513|PMID:31292255
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:2725	capillary hemangioma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:2843	long QT syndrome		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Prolonged QT interval	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:3070	high grade glioma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:3275	thymoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:4362	cervical cancer		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:5041	esophageal cancer		ISO	RGD:1312590	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:540	strabismus		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:630	genetic disease		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25728775|PMID:25728777|PMID:25741868|PMID:27133397|PMID:28135719|PMID:28492532|PMID:28518168|PMID:30245513|PMID:32461654|PMID:33004838|PMID:35892268|PMID:36660029
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:630	genetic disease		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28135719|PMID:28492532|PMID:28518168|PMID:30245513|PMID:32041641|PMID:32461654|PMID:35892268|PMID:36660029|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:8927	learning disability		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Learning disability	PMID:25741868
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9001586	Experimental Liver Neoplasms		IEP		D	RGD:2312274|PMID:17083329	20140925	RGD		protein:increased expression:liver (rat)	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312590	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9002969	Nevus		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9003646	Arterial Thrombosis		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arterial thrombosis	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9003879	Vein of Galen Aneurysm		ISO	RGD:1312590	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Galen vein aneurysm	PMID:30578106
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312590	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9005077	Joint Instability		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: speech delay	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9005616	Micrognathism		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1312590	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9007661	Dwarfism		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:34748993|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1312590	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:30245513|PMID:31292255
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9008617	Lethargy		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:25741868
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1312590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:1312590	D	RGD:9590335|PMID:25220592	20141125	RGD		mRNA:increased expression:breast (human)	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28492532
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312590	D	RGD:9590334|PMID:12676584	20141125	RGD		human gene in a mouse model;DNA:translocation:exon	
1304892	Kat6a	lysine acetyltransferase 6A	gene	DOID:9834	hyperopia		ISO	RGD:1312590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1304893	Ccr8	C-C motif chemokine receptor 8	gene	DOID:10534	stomach cancer		ISO	RGD:1312592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304893	Ccr8	C-C motif chemokine receptor 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304893	Ccr8	C-C motif chemokine receptor 8	gene	DOID:1824	status epilepticus		ISO	RGD:1312592	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17181556
1304893	Ccr8	C-C motif chemokine receptor 8	gene	DOID:2841	asthma		IEP		D	RGD:2306304|PMID:15993846	20090416	RGD		mRNA:increased expression:lung	
1304893	Ccr8	C-C motif chemokine receptor 8	gene	DOID:3070	high grade glioma		ISO	RGD:1312592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304893	Ccr8	C-C motif chemokine receptor 8	gene	DOID:3770	pulmonary fibrosis		IEP		D	RGD:2306304|PMID:15993846	20090416	RGD		mRNA:increased expression:lung	
1304893	Ccr8	C-C motif chemokine receptor 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304894	Clca2	chloride channel accessory 2	gene	DOID:1324	lung cancer		ISO	RGD:1312594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304894	Clca2	chloride channel accessory 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304894	Clca2	chloride channel accessory 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304894	Clca2	chloride channel accessory 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1312594	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
1304894	Clca2	chloride channel accessory 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:10534	stomach cancer		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:1115	sarcoma		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:1324	lung cancer		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:1909	melanoma		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:2394	ovarian cancer		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:3275	thymoma		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:4362	cervical cancer		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:5041	esophageal cancer		ISO	RGD:1312596	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304895	Ddx31	DEAD-box helicase 31	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304896	Glt1d1	glycosyltransferase 1 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1606714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304896	Glt1d1	glycosyltransferase 1 domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304896	Glt1d1	glycosyltransferase 1 domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304896	Glt1d1	glycosyltransferase 1 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304896	Glt1d1	glycosyltransferase 1 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606714	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304896	Glt1d1	glycosyltransferase 1 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304897	Rpl23a	ribosomal protein L23A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304897	Rpl23a	ribosomal protein L23A	gene	DOID:1324	lung cancer		ISO	RGD:1312599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304897	Rpl23a	ribosomal protein L23A	gene	DOID:14330	Parkinson's disease		ISO	RGD:1312599	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18353766
1304897	Rpl23a	ribosomal protein L23A	gene	DOID:1909	melanoma		ISO	RGD:1312599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304897	Rpl23a	ribosomal protein L23A	gene	DOID:3275	thymoma		ISO	RGD:1312599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304897	Rpl23a	ribosomal protein L23A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304897	Rpl23a	ribosomal protein L23A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1312599	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
1304897	Rpl23a	ribosomal protein L23A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304897	Rpl23a	ribosomal protein L23A	gene	DOID:9256	colorectal cancer		ISO	RGD:1312599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304898	Prtn3	proteinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304898	Prtn3	proteinase 3	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:1312601	D	RGD:11554173	20260407	CTD		CTD Direct Evidence: marker/mechanism	PMID:17157168
1304898	Prtn3	proteinase 3	gene	DOID:12132	granulomatosis with polyangiitis		ISO	RGD:1312601	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25288799
1304898	Prtn3	proteinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1312601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304898	Prtn3	proteinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304899	Myt1	myelin transcription factor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312603	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1304899	Myt1	myelin transcription factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1312603	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1304899	Myt1	myelin transcription factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1312603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304899	Myt1	myelin transcription factor 1	gene	DOID:1909	melanoma		ISO	RGD:1312603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304899	Myt1	myelin transcription factor 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1312603	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	
1304899	Myt1	myelin transcription factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1312603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304899	Myt1	myelin transcription factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312603	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304899	Myt1	myelin transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1304899	Myt1	myelin transcription factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304899	Myt1	myelin transcription factor 1	gene	DOID:630	genetic disease		ISO	RGD:1312603	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1304899	Myt1	myelin transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304899	Myt1	myelin transcription factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304900	Zfp598	zinc finger protein 598	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304900	Zfp598	zinc finger protein 598	gene	DOID:10534	stomach cancer		ISO	RGD:1312605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304900	Zfp598	zinc finger protein 598	gene	DOID:1115	sarcoma		ISO	RGD:1312605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304900	Zfp598	zinc finger protein 598	gene	DOID:3070	high grade glioma		ISO	RGD:1312605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304900	Zfp598	zinc finger protein 598	gene	DOID:3275	thymoma		ISO	RGD:1312605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304900	Zfp598	zinc finger protein 598	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304900	Zfp598	zinc finger protein 598	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304900	Zfp598	zinc finger protein 598	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304900	Zfp598	zinc finger protein 598	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1312605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1304900	Zfp598	zinc finger protein 598	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304900	Zfp598	zinc finger protein 598	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304902	Nlrc3	NLR family, CARD domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304902	Nlrc3	NLR family, CARD domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304902	Nlrc3	NLR family, CARD domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304902	Nlrc3	NLR family, CARD domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304902	Nlrc3	NLR family, CARD domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304902	Nlrc3	NLR family, CARD domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304902	Nlrc3	NLR family, CARD domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304902	Nlrc3	NLR family, CARD domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604212	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304902	Nlrc3	NLR family, CARD domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304902	Nlrc3	NLR family, CARD domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604212	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:30081150
1304902	Nlrc3	NLR family, CARD domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304902	Nlrc3	NLR family, CARD domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304902	Nlrc3	NLR family, CARD domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304904	Gpat2	glycerol-3-phosphate acyltransferase 2, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304904	Gpat2	glycerol-3-phosphate acyltransferase 2, mitochondrial	gene	DOID:12336	male infertility		ISO	RGD:1601718	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
1304904	Gpat2	glycerol-3-phosphate acyltransferase 2, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1601718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304904	Gpat2	glycerol-3-phosphate acyltransferase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1601718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304904	Gpat2	glycerol-3-phosphate acyltransferase 2, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1601718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304904	Gpat2	glycerol-3-phosphate acyltransferase 2, mitochondrial	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304904	Gpat2	glycerol-3-phosphate acyltransferase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304904	Gpat2	glycerol-3-phosphate acyltransferase 2, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304904	Gpat2	glycerol-3-phosphate acyltransferase 2, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304904	Gpat2	glycerol-3-phosphate acyltransferase 2, mitochondrial	gene	DOID:9256	colorectal cancer		ISO	RGD:1601718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304906	Trappc2l	trafficking protein particle complex subunit 2L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304906	Trappc2l	trafficking protein particle complex subunit 2L	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304906	Trappc2l	trafficking protein particle complex subunit 2L	gene	DOID:1324	lung cancer		ISO	RGD:1604619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304906	Trappc2l	trafficking protein particle complex subunit 2L	gene	DOID:1909	melanoma		ISO	RGD:1604619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304906	Trappc2l	trafficking protein particle complex subunit 2L	gene	DOID:4362	cervical cancer		ISO	RGD:1604619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304906	Trappc2l	trafficking protein particle complex subunit 2L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304906	Trappc2l	trafficking protein particle complex subunit 2L	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304906	Trappc2l	trafficking protein particle complex subunit 2L	gene	DOID:9009062	Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis		ISO	RGD:1604619	D	RGD:7240710	20190315	OMIM			
1304906	Trappc2l	trafficking protein particle complex subunit 2L	gene	DOID:9009062	Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis		ISO	RGD:1604619	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS | ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | ClinVar Annotator: match by term: TRAPPC2L-related condition	PMID:25741868|PMID:32843486
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1312619	D	RGD:9850279|PMID:16211284	20150406	RGD		mRNA:decreased expression:bone marrow mononuclear cell (human)	
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:1115	sarcoma		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:1324	lung cancer		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:1909	melanoma		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:4362	cervical cancer		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:9007346	Cachexia		IEP		D	RGD:1641826|PMID:14718385	20150402	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:gastrocnemius muscle (rat)	
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:9007346	Cachexia		ISO	RGD:1312620	D	RGD:1641826|PMID:14718385	20150402	RGD		associated with Malnutrition;mRNA:increased expression:gastrocnemius muscle (mouse)	
1304909	Ddx42	DEAD-box helicase 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304910	Zfp775	zinc finger protein 775	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304912	Lipm	lipase, family member M	gene	DOID:1115	sarcoma		ISO	RGD:1312623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304912	Lipm	lipase, family member M	gene	DOID:5041	esophageal cancer		ISO	RGD:1312623	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304913	Mrpl45	mitochondrial ribosomal protein L45	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304913	Mrpl45	mitochondrial ribosomal protein L45	gene	DOID:1936	atherosclerosis		ISO	RGD:1312625	D	RGD:155882464|PMID:33381146	20230123	RGD		associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human)	
1304913	Mrpl45	mitochondrial ribosomal protein L45	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304913	Mrpl45	mitochondrial ribosomal protein L45	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304913	Mrpl45	mitochondrial ribosomal protein L45	gene	DOID:5041	esophageal cancer		ISO	RGD:1312625	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304913	Mrpl45	mitochondrial ribosomal protein L45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304913	Mrpl45	mitochondrial ribosomal protein L45	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304913	Mrpl45	mitochondrial ribosomal protein L45	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa	PMID:23105016|PMID:26355662|PMID:28492532
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary bladder cancer	
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:1115	sarcoma		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:1324	lung cancer		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:3275	thymoma		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312627	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:5723	optic atrophy		ISO	RGD:1312627	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:8501	fundus dystrophy		ISO	RGD:1312627	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532|PMID:28714225|PMID:30718709
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304914	Adgra3	adhesion G protein-coupled receptor A3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304915	Mrpl42	mitochondrial ribosomal protein L42	gene	DOID:1324	lung cancer		ISO	RGD:1312629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304915	Mrpl42	mitochondrial ribosomal protein L42	gene	DOID:1909	melanoma		ISO	RGD:1312629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304915	Mrpl42	mitochondrial ribosomal protein L42	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304915	Mrpl42	mitochondrial ribosomal protein L42	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304915	Mrpl42	mitochondrial ribosomal protein L42	gene	DOID:5041	esophageal cancer		ISO	RGD:1312629	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304915	Mrpl42	mitochondrial ribosomal protein L42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304915	Mrpl42	mitochondrial ribosomal protein L42	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304915	Mrpl42	mitochondrial ribosomal protein L42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304916	Optc	opticin	gene	DOID:1115	sarcoma		ISO	RGD:1312631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304916	Optc	opticin	gene	DOID:5041	esophageal cancer		ISO	RGD:1312631	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304917	Arsl	arylsulfatase L	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304917	Arsl	arylsulfatase L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1304917	Arsl	arylsulfatase L	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597
1304917	Arsl	arylsulfatase L	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:14265589	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1304917	Arsl	arylsulfatase L	gene	DOID:0060292	X-linked chondrodysplasia punctata 1		ISO	RGD:1312633	D	RGD:11554173	20200114	CTD		CTD Direct Evidence: marker/mechanism	PMID:7720070|PMID:18348268
1304917	Arsl	arylsulfatase L	gene	DOID:0060292	X-linked chondrodysplasia punctata 1		ISO	RGD:1312633	D	RGD:7240710	20181017	OMIM			
1304917	Arsl	arylsulfatase L	gene	DOID:0060292	X-linked chondrodysplasia punctata 1		ISO	RGD:1312633	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARSL-related disorder | ClinVar Annotator: match by term: BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA | ClinVar Annotator: match by term: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE | ClinVar Annotator: match by term: Chondrodysplasia punctata 1, X-linked recessive | ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic | ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1	PMID:12567415|PMID:1557308|PMID:16199547|PMID:16937129|PMID:17576681|PMID:18348268|PMID:18414213|PMID:20301713|PMID:20523025|PMID:20598055|PMID:23462608|PMID:23470839|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26377240|PMID:26526591|PMID:2722194|PMID:28257906|PMID:28492532|PMID:30084160|PMID:32523032|PMID:32860008|PMID:34697415|PMID:36964972|PMID:38374194|PMID:7720070|PMID:9497243|PMID:9536098|PMID:9863597
1304917	Arsl	arylsulfatase L	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1312633	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12	PMID:18348268|PMID:20301713|PMID:23470839|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32523032|PMID:34697415|PMID:7720070|PMID:9863597
1304917	Arsl	arylsulfatase L	gene	DOID:0110059	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keratosis pilaris	PMID:16199547|PMID:23470839|PMID:25741868|PMID:28492532|PMID:9497243
1304917	Arsl	arylsulfatase L	gene	DOID:11155	hypohidrosis		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:17576681|PMID:28492532|PMID:9536098
1304917	Arsl	arylsulfatase L	gene	DOID:11830	myopia		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17576681|PMID:28492532|PMID:9536098
1304917	Arsl	arylsulfatase L	gene	DOID:12849	autistic disorder		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:12567415|PMID:17576681|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9536098|PMID:9863597
1304917	Arsl	arylsulfatase L	gene	DOID:1909	melanoma		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304917	Arsl	arylsulfatase L	gene	DOID:1924	hypogonadism		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:17576681|PMID:28492532|PMID:9536098
1304917	Arsl	arylsulfatase L	gene	DOID:2030	anxiety disorder		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17576681|PMID:28492532|PMID:9536098
1304917	Arsl	arylsulfatase L	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1304917	Arsl	arylsulfatase L	gene	DOID:2581	chondrodysplasia punctata	susceptibility	ISO	RGD:1312633	D	RGD:1599238|PMID:9409863	20070122	RGD			
1304917	Arsl	arylsulfatase L	gene	DOID:3275	thymoma		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1304917	Arsl	arylsulfatase L	gene	DOID:4362	cervical cancer		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1304917	Arsl	arylsulfatase L	gene	DOID:5041	esophageal cancer		ISO	RGD:1312633	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304917	Arsl	arylsulfatase L	gene	DOID:557	kidney disease		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597
1304917	Arsl	arylsulfatase L	gene	DOID:6039	uveal melanoma		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1304917	Arsl	arylsulfatase L	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1304917	Arsl	arylsulfatase L	gene	DOID:630	genetic disease		ISO	RGD:1312633	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597
1304917	Arsl	arylsulfatase L	gene	DOID:65	connective tissue disease		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
1304917	Arsl	arylsulfatase L	gene	DOID:687	hepatoblastoma		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:16199547|PMID:23470839|PMID:25741868|PMID:28492532|PMID:9497243
1304917	Arsl	arylsulfatase L	gene	DOID:7998	hyperthyroidism		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:17576681|PMID:28492532|PMID:9536098
1304917	Arsl	arylsulfatase L	gene	DOID:824	periodontitis		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:17576681|PMID:28492532|PMID:9536098
1304917	Arsl	arylsulfatase L	gene	DOID:870	neuropathy		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597
1304917	Arsl	arylsulfatase L	gene	DOID:9000073	Metaphyseal Chondrodysplasia		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metaphyseal chondrodysplasia	PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597
1304917	Arsl	arylsulfatase L	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:17576681|PMID:28492532|PMID:9536098
1304917	Arsl	arylsulfatase L	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17576681|PMID:28492532|PMID:9536098
1304917	Arsl	arylsulfatase L	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:17576681|PMID:28492532|PMID:9536098
1304917	Arsl	arylsulfatase L	gene	DOID:9004866	Ataxia		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:12567415|PMID:20301713|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9863597
1304917	Arsl	arylsulfatase L	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:17576681|PMID:28492532|PMID:9536098
1304917	Arsl	arylsulfatase L	gene	DOID:9005745	Stillbirth		ISO	RGD:1312633	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stillbirth	
1304917	Arsl	arylsulfatase L	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1304917	Arsl	arylsulfatase L	gene	DOID:9007661	Dwarfism		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:17576681|PMID:23470839|PMID:25741868|PMID:28492532|PMID:9497243|PMID:9536098
1304917	Arsl	arylsulfatase L	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12567415|PMID:16199547|PMID:20301713|PMID:23470839|PMID:25741868|PMID:28492532|PMID:30084160|PMID:32860008|PMID:9497243|PMID:9863597
1304917	Arsl	arylsulfatase L	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1312633	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	
1304917	Arsl	arylsulfatase L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1304918	Asf1b	anti-silencing function 1B histone chaperone	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1312634	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581250
1304918	Asf1b	anti-silencing function 1B histone chaperone	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1312634	D	RGD:9586017|PMID:21179005	20140924	RGD			
1304918	Asf1b	anti-silencing function 1B histone chaperone	gene	DOID:5041	esophageal cancer		ISO	RGD:1312634	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304918	Asf1b	anti-silencing function 1B histone chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304918	Asf1b	anti-silencing function 1B histone chaperone	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312634	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1304919	S100a13	S100 calcium binding protein A13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304919	S100a13	S100 calcium binding protein A13	gene	DOID:10534	stomach cancer		ISO	RGD:1312636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304919	S100a13	S100 calcium binding protein A13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304919	S100a13	S100 calcium binding protein A13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304919	S100a13	S100 calcium binding protein A13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304921	Cdc27	cell division cycle 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304921	Cdc27	cell division cycle 27	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1304921	Cdc27	cell division cycle 27	gene	DOID:10485	esophageal atresia		ISO	RGD:1312639	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
1304921	Cdc27	cell division cycle 27	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304921	Cdc27	cell division cycle 27	gene	DOID:1115	sarcoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304921	Cdc27	cell division cycle 27	gene	DOID:1324	lung cancer		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304921	Cdc27	cell division cycle 27	gene	DOID:1909	melanoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304921	Cdc27	cell division cycle 27	gene	DOID:3070	high grade glioma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304921	Cdc27	cell division cycle 27	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304921	Cdc27	cell division cycle 27	gene	DOID:4362	cervical cancer		ISO	RGD:1312639	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304921	Cdc27	cell division cycle 27	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304921	Cdc27	cell division cycle 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1312639	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304921	Cdc27	cell division cycle 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304921	Cdc27	cell division cycle 27	gene	DOID:6039	uveal melanoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1304921	Cdc27	cell division cycle 27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304921	Cdc27	cell division cycle 27	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312639	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304921	Cdc27	cell division cycle 27	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312639	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1304921	Cdc27	cell division cycle 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304921	Cdc27	cell division cycle 27	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1312639	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Pulmonary artery atresia	
1304921	Cdc27	cell division cycle 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304921	Cdc27	cell division cycle 27	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304921	Cdc27	cell division cycle 27	gene	DOID:9256	colorectal cancer		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304922	Irf2	interferon regulatory factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304922	Irf2	interferon regulatory factor 2	gene	DOID:0080600	COVID-19		ISO	RGD:1312641	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1304922	Irf2	interferon regulatory factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304922	Irf2	interferon regulatory factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304922	Irf2	interferon regulatory factor 2	gene	DOID:1909	melanoma		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304922	Irf2	interferon regulatory factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304922	Irf2	interferon regulatory factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312641	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304922	Irf2	interferon regulatory factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312641	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561517
1304922	Irf2	interferon regulatory factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304922	Irf2	interferon regulatory factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1304922	Irf2	interferon regulatory factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304923	Batf	basic leucine zipper ATF-like transcription factor	gene	DOID:1324	lung cancer		ISO	RGD:1312643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304923	Batf	basic leucine zipper ATF-like transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304924	Eme2	essential meiotic structure-specific endonuclease subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304924	Eme2	essential meiotic structure-specific endonuclease subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304924	Eme2	essential meiotic structure-specific endonuclease subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304924	Eme2	essential meiotic structure-specific endonuclease subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304924	Eme2	essential meiotic structure-specific endonuclease subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304924	Eme2	essential meiotic structure-specific endonuclease subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304924	Eme2	essential meiotic structure-specific endonuclease subunit 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1304924	Eme2	essential meiotic structure-specific endonuclease subunit 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1344240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304925	Phf3	PHD finger protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304925	Phf3	PHD finger protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304925	Phf3	PHD finger protein 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312646	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1304925	Phf3	PHD finger protein 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1312646	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21179430|PMID:22302105|PMID:22363543|PMID:22581970|PMID:24033266|PMID:24474277|PMID:24652164|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26667666|PMID:26787102|PMID:26872967|PMID:27208204|PMID:27658286|PMID:28041643|PMID:28492532|PMID:28704921|PMID:29068140|PMID:29159838|PMID:29550188|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30804660|PMID:31054281|PMID:31074760|PMID:31087526|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31725169|PMID:31814702|PMID:31960602|PMID:31964843|PMID:32037395|PMID:32531858|PMID:32675063|PMID:32728228|PMID:33090715|PMID:33247286|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33833316|PMID:34178978|PMID:34315337|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34689181|PMID:34795310|PMID:34906470|PMID:35672425|PMID:36460718|PMID:36729443|PMID:36764454|PMID:36819107|PMID:37544434|PMID:37798099
1304925	Phf3	PHD finger protein 3	gene	DOID:1059	intellectual disability		ISO	RGD:1312646	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1304925	Phf3	PHD finger protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304925	Phf3	PHD finger protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304925	Phf3	PHD finger protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304925	Phf3	PHD finger protein 3	gene	DOID:1909	melanoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304925	Phf3	PHD finger protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304925	Phf3	PHD finger protein 3	gene	DOID:3275	thymoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304925	Phf3	PHD finger protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304925	Phf3	PHD finger protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312646	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304925	Phf3	PHD finger protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304925	Phf3	PHD finger protein 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1304925	Phf3	PHD finger protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304925	Phf3	PHD finger protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304925	Phf3	PHD finger protein 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312646	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1304925	Phf3	PHD finger protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304925	Phf3	PHD finger protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304925	Phf3	PHD finger protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:10534	stomach cancer		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:1059	intellectual disability		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:1324	lung cancer		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:1826	epilepsy		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:1909	melanoma		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312648	D	RGD:5135276|PMID:6722784	20211118	RGD			
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:3905	lung carcinoma		ISO	RGD:1614154	D	RGD:5135276|PMID:6722784	20211118	RGD			
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:4362	cervical cancer		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1312648	D	RGD:5135276|PMID:6722784	20211118	RGD			
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:1312648	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:684	hepatocellular carcinoma		IEP		D	RGD:5135276|PMID:6722784	20110719	RGD		protein:increased activity:hepatoma (rat)	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:5135485|PMID:3043317	20110722	RGD		protein:increased activity:liver (rat)	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:9007661	Dwarfism		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304926	Pfas	phosphoribosylformylglycinamidine synthase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:0080198	infantile histiocytoid cardiomyopathy		ISO	RGD:1312650	D	RGD:8554872	20161011	ClinVar		ClinVar Annotator: match by term: Histiocytoid cardiomyopathy	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:10534	stomach cancer		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:1115	sarcoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:1324	lung cancer		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:1909	melanoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1312650	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304927	Fam135a	family with sequence similarity 135, member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304928	Hmx1	H6 family homeobox 1	gene	DOID:0060482	oculoauricular syndrome		ISO	RGD:1312652	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:19379485
1304928	Hmx1	H6 family homeobox 1	gene	DOID:0060482	oculoauricular syndrome		ISO	RGD:1312652	D	RGD:7240710	20130221	OMIM			
1304928	Hmx1	H6 family homeobox 1	gene	DOID:0060482	oculoauricular syndrome		ISO	RGD:1312652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HMX1-related condition | ClinVar Annotator: match by term: OCULOAURICULAR SYNDROME | ClinVar Annotator: match by term: Oculoauricular syndrome	PMID:25741868|PMID:28492532
1304928	Hmx1	H6 family homeobox 1	gene	DOID:0060482	oculoauricular syndrome		ISS	RGD:1312653	D	RGD:13592920	20230718	MouseDO		OMIM:612109	
1304928	Hmx1	H6 family homeobox 1	gene	DOID:10629	microphthalmia		ISO	RGD:1312652	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19379485
1304928	Hmx1	H6 family homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1312652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1304928	Hmx1	H6 family homeobox 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1312652	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1304928	Hmx1	H6 family homeobox 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1312652	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19379485
1304929	Rubcnl	rubicon like autophagy enhancer	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304929	Rubcnl	rubicon like autophagy enhancer	gene	DOID:10283	prostate cancer		ISO	RGD:1312654	D	RGD:8554872	20190312	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1304929	Rubcnl	rubicon like autophagy enhancer	gene	DOID:10283	prostate cancer		ISO	RGD:1312654	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1304929	Rubcnl	rubicon like autophagy enhancer	gene	DOID:1115	sarcoma		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304929	Rubcnl	rubicon like autophagy enhancer	gene	DOID:1324	lung cancer		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304929	Rubcnl	rubicon like autophagy enhancer	gene	DOID:4362	cervical cancer		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304929	Rubcnl	rubicon like autophagy enhancer	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304929	Rubcnl	rubicon like autophagy enhancer	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304929	Rubcnl	rubicon like autophagy enhancer	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304929	Rubcnl	rubicon like autophagy enhancer	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304930	Cnih2	cornichon family AMPA receptor auxiliary protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304930	Cnih2	cornichon family AMPA receptor auxiliary protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304930	Cnih2	cornichon family AMPA receptor auxiliary protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1352659	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304930	Cnih2	cornichon family AMPA receptor auxiliary protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1352659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304930	Cnih2	cornichon family AMPA receptor auxiliary protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1352659	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304930	Cnih2	cornichon family AMPA receptor auxiliary protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304933	Pdcd11	programmed cell death 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304933	Pdcd11	programmed cell death 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304933	Pdcd11	programmed cell death 11	gene	DOID:10534	stomach cancer		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304933	Pdcd11	programmed cell death 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304933	Pdcd11	programmed cell death 11	gene	DOID:1324	lung cancer		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304933	Pdcd11	programmed cell death 11	gene	DOID:1909	melanoma		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304933	Pdcd11	programmed cell death 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304933	Pdcd11	programmed cell death 11	gene	DOID:3070	high grade glioma		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304933	Pdcd11	programmed cell death 11	gene	DOID:3275	thymoma		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304933	Pdcd11	programmed cell death 11	gene	DOID:4362	cervical cancer		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304933	Pdcd11	programmed cell death 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304933	Pdcd11	programmed cell death 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1354347	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304933	Pdcd11	programmed cell death 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304933	Pdcd11	programmed cell death 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304933	Pdcd11	programmed cell death 11	gene	DOID:6039	uveal melanoma		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1304933	Pdcd11	programmed cell death 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304933	Pdcd11	programmed cell death 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304933	Pdcd11	programmed cell death 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304933	Pdcd11	programmed cell death 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304934	Rpusd1	RNA pseudouridine synthase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304934	Rpusd1	RNA pseudouridine synthase domain containing 1	gene	DOID:10283	prostate cancer		ISO	RGD:1344939	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1304934	Rpusd1	RNA pseudouridine synthase domain containing 1	gene	DOID:10283	prostate cancer		ISO	RGD:1344939	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1304934	Rpusd1	RNA pseudouridine synthase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304934	Rpusd1	RNA pseudouridine synthase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304934	Rpusd1	RNA pseudouridine synthase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1344939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304934	Rpusd1	RNA pseudouridine synthase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304935	Plekhh2	pleckstrin homology, MyTH4 and FERM domain containing H2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304935	Plekhh2	pleckstrin homology, MyTH4 and FERM domain containing H2	gene	DOID:10534	stomach cancer		ISO	RGD:1351016	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stomach cancer	
1304935	Plekhh2	pleckstrin homology, MyTH4 and FERM domain containing H2	gene	DOID:1115	sarcoma		ISO	RGD:1351016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304935	Plekhh2	pleckstrin homology, MyTH4 and FERM domain containing H2	gene	DOID:1324	lung cancer		ISO	RGD:1351016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304935	Plekhh2	pleckstrin homology, MyTH4 and FERM domain containing H2	gene	DOID:1909	melanoma		ISO	RGD:1351016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304935	Plekhh2	pleckstrin homology, MyTH4 and FERM domain containing H2	gene	DOID:3275	thymoma		ISO	RGD:1351016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304935	Plekhh2	pleckstrin homology, MyTH4 and FERM domain containing H2	gene	DOID:4362	cervical cancer		ISO	RGD:1351016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304935	Plekhh2	pleckstrin homology, MyTH4 and FERM domain containing H2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304935	Plekhh2	pleckstrin homology, MyTH4 and FERM domain containing H2	gene	DOID:630	genetic disease		ISO	RGD:1351016	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1304935	Plekhh2	pleckstrin homology, MyTH4 and FERM domain containing H2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304935	Plekhh2	pleckstrin homology, MyTH4 and FERM domain containing H2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304935	Plekhh2	pleckstrin homology, MyTH4 and FERM domain containing H2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351016	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304936	Mtfr1	mitochondrial fission regulator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304936	Mtfr1	mitochondrial fission regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304936	Mtfr1	mitochondrial fission regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304936	Mtfr1	mitochondrial fission regulator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304936	Mtfr1	mitochondrial fission regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304936	Mtfr1	mitochondrial fission regulator 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1304936	Mtfr1	mitochondrial fission regulator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304936	Mtfr1	mitochondrial fission regulator 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304938	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304938	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:10283	prostate cancer		ISO	RGD:1347923	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1304938	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:10283	prostate cancer		ISO	RGD:1347923	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1304938	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304938	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:1115	sarcoma		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304938	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:1324	lung cancer		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304938	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:3275	thymoma		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304938	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1304938	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:4362	cervical cancer		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304938	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1347923	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1304938	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304938	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304938	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304938	Arap3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304939	Exoc1	exocyst complex component 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304939	Exoc1	exocyst complex component 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304939	Exoc1	exocyst complex component 1	gene	DOID:1324	lung cancer		ISO	RGD:1312667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304939	Exoc1	exocyst complex component 1	gene	DOID:3275	thymoma		ISO	RGD:1312667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304939	Exoc1	exocyst complex component 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304939	Exoc1	exocyst complex component 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312667	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304939	Exoc1	exocyst complex component 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304939	Exoc1	exocyst complex component 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304939	Exoc1	exocyst complex component 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304939	Exoc1	exocyst complex component 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304939	Exoc1	exocyst complex component 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304940	Atf7	activating transcription factor 7	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1312669	D	RGD:11055686|PMID:26148593	20170918	RGD			
1304941	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304941	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304941	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1312671	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:36052886
1304941	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304941	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304941	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304941	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304941	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304941	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304941	Hipk1	homeodomain interacting protein kinase 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1312671	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1304942	Abcf2	ATP binding cassette subfamily F member 2	gene	DOID:9000918	Disease Progression		ISO	RGD:1312673	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:0081297	oculopharyngodistal myopathy 1		ISO	RGD:1312675	D	RGD:7240710	20200722	OMIM			
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:0081382	amyotrophic lateral sclerosis type 28		ISO	RGD:1312675	D	RGD:7240710	20230809	OMIM			
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:0081382	amyotrophic lateral sclerosis type 28		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 28 | ClinVar Annotator: match by term: LRP12-related condition	PMID:25741868
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:0110645	long QT syndrome 2		ISO	RGD:1312675	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 2	PMID:25741868
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:11719	oculopharyngeal muscular dystrophy		ISO	RGD:1312675	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:31332380
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:1612	breast cancer		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:1909	melanoma		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:3275	thymoma		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:4362	cervical cancer		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1312675	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1312675	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:630	genetic disease		ISO	RGD:1312675	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304943	Lrp12	LDL receptor related protein 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304945	Ddx17	DEAD-box helicase 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304945	Ddx17	DEAD-box helicase 17	gene	DOID:0061046	autosomal dominant intellectual developmental disorder 73		ISO	RGD:1312679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 73	PMID:25741868
1304945	Ddx17	DEAD-box helicase 17	gene	DOID:1059	intellectual disability		ISO	RGD:1312679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:39405200
1304945	Ddx17	DEAD-box helicase 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304945	Ddx17	DEAD-box helicase 17	gene	DOID:1826	epilepsy		ISO	RGD:1312679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:39405200
1304945	Ddx17	DEAD-box helicase 17	gene	DOID:4362	cervical cancer		ISO	RGD:1312679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304945	Ddx17	DEAD-box helicase 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304945	Ddx17	DEAD-box helicase 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304945	Ddx17	DEAD-box helicase 17	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:39405200
1304945	Ddx17	DEAD-box helicase 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304945	Ddx17	DEAD-box helicase 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304949	Card10	caspase recruitment domain family, member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304949	Card10	caspase recruitment domain family, member 10	gene	DOID:0061059	immunodeficiency 89		ISO	RGD:1312685	D	RGD:7240710	20211201	OMIM			
1304949	Card10	caspase recruitment domain family, member 10	gene	DOID:0061059	immunodeficiency 89		ISO	RGD:1312685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARD10-related condition | ClinVar Annotator: match by term: Immunodeficiency 89 and autoimmunity	PMID:25741868|PMID:28492532
1304949	Card10	caspase recruitment domain family, member 10	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1312685	D	RGD:8554872	20170307	ClinVar		ClinVar Annotator: match by term: Primary open angle glaucoma	PMID:27896285
1304949	Card10	caspase recruitment domain family, member 10	gene	DOID:1909	melanoma		ISO	RGD:1312685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304949	Card10	caspase recruitment domain family, member 10	gene	DOID:4362	cervical cancer		ISO	RGD:1312685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304949	Card10	caspase recruitment domain family, member 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304949	Card10	caspase recruitment domain family, member 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1312685	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304949	Card10	caspase recruitment domain family, member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304949	Card10	caspase recruitment domain family, member 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1304950	Il21r	interleukin 21 receptor	gene	DOID:0050486	exanthem		ISO	RGD:1312687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:22235133|PMID:25741868|PMID:28492532
1304950	Il21r	interleukin 21 receptor	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1312687	D	RGD:6892935|PMID:19322899	20120817	RGD		protein:increased expression:gut mucosa,leukocytes, mononuclear	
1304950	Il21r	interleukin 21 receptor	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1312687	D	RGD:1600111|PMID:11821949	20070228	RGD		diffuse large B-cell lymphoma	
1304950	Il21r	interleukin 21 receptor	gene	DOID:0081267	graft-versus-host disease		ISO	RDG:1312688	D	RGD:6892927|PMID:21596854	20120816	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:0111946	immunodeficiency 31C		ISO	RGD:1312687	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 31C, autosomal dominant	PMID:25741868
1304950	Il21r	interleukin 21 receptor	gene	DOID:0111982	immunodeficiency 56		ISO	RGD:1312687	D	RGD:7240710	20140911	OMIM			
1304950	Il21r	interleukin 21 receptor	gene	DOID:0111982	immunodeficiency 56		ISO	RGD:1312687	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IL21R immunodeficiency | ClinVar Annotator: match by term: IL21R-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 56	PMID:18254984|PMID:22235133|PMID:24033266|PMID:25398835|PMID:25741868|PMID:28492532|PMID:33929673
1304950	Il21r	interleukin 21 receptor	gene	DOID:12155	lymphocytic choriomeningitis		ISO	RDG:1312688	D	RGD:6892934|PMID:19478140	20120816	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1312687	D	RGD:6892941|PMID:18254984	20120817	RGD		DNA:SNPs:exons:	
1304950	Il21r	interleukin 21 receptor	gene	DOID:13141	uveitis		ISO	RDG:1312688	D	RGD:6892928|PMID:21593413	20120816	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:13141	uveitis		ISO	RDG:1312688	D	RGD:6892932|PMID:20057909	20120816	RGD		mRNA, protein:increased expression:lymph node, spleen	
1304950	Il21r	interleukin 21 receptor	gene	DOID:13241	Behcet's disease		ISO	RGD:1312687	D	RGD:6892926|PMID:21724243	20120816	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:13375	temporal arteritis		ISO	RGD:1312687	D	RGD:6892962|PMID:22147555	20120821	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:1826	epilepsy		ISO	RGD:1312687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22235133|PMID:25741868|PMID:28492532
1304950	Il21r	interleukin 21 receptor	gene	DOID:1909	melanoma		ISO	RGD:1312687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304950	Il21r	interleukin 21 receptor	gene	DOID:2377	multiple sclerosis		ISO	RGD:1312687	D	RGD:6892695|PMID:20072140	20120813	RGD		DNA:polymorphisms: :	
1304950	Il21r	interleukin 21 receptor	gene	DOID:2377	multiple sclerosis		ISO	RGD:1312687	D	RGD:6892963|PMID:21281812	20120821	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:3310	atopic dermatitis		ISO	RDG:1312688	D	RGD:6892938|PMID:19075398	20120817	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:3310	atopic dermatitis		ISO	RGD:1312687	D	RGD:6892938|PMID:19075398	20120817	RGD		protein:increased expression:skin	
1304950	Il21r	interleukin 21 receptor	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1312687	D	RGD:6892924|PMID:22530560	20120816	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1304950	Il21r	interleukin 21 receptor	gene	DOID:6132	bronchitis		ISO	RGD:1312687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic bronchitis	PMID:22235133|PMID:25741868|PMID:28492532
1304950	Il21r	interleukin 21 receptor	gene	DOID:630	genetic disease		ISO	RGD:1312687	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22235133|PMID:25741868|PMID:28492532
1304950	Il21r	interleukin 21 receptor	gene	DOID:707	B-cell lymphoma		ISO	RGD:1312687	D	RGD:1600111|PMID:11821949	20070228	RGD		diffuse large B-cell lymphoma	
1304950	Il21r	interleukin 21 receptor	gene	DOID:7148	rheumatoid arthritis		ISO	RDG:1312688	D	RGD:6892964|PMID:19342640	20120821	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:820	myocarditis	no_association	ISO	RDG:1312688	D	RGD:6892939|PMID:18546146	20120817	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:870	neuropathy		ISO	RGD:1312687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:22235133|PMID:25741868|PMID:28492532
1304950	Il21r	interleukin 21 receptor	gene	DOID:8778	Crohn's disease		ISO	RGD:1312687	D	RGD:6482789|PMID:22021194	20120816	RGD		DNA:altered methylation: :	
1304950	Il21r	interleukin 21 receptor	gene	DOID:9000053	Headache		ISO	RGD:1312687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:22235133|PMID:25741868|PMID:28492532
1304950	Il21r	interleukin 21 receptor	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RDG:1312688	D	RGD:6892942|PMID:17920666	20120817	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:9000972	Fever		ISO	RGD:1312687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:22235133|PMID:25741868|PMID:28492532
1304950	Il21r	interleukin 21 receptor	gene	DOID:9001953	Pneumovirus Infections		ISO	RDG:1312688	D	RGD:6892925|PMID:22238461	20120816	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	disease_progression	ISO	RDG:1312688	D	RGD:6892940|PMID:18353312	20120817	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	no_association	ISO	RDG:1312688	D	RGD:6892939|PMID:18546146	20120817	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1312687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:22235133|PMID:25741868|PMID:28492532
1304950	Il21r	interleukin 21 receptor	gene	DOID:9007651	Chronic Bronchitis		ISO	RGD:1312687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic bronchitis	PMID:22235133|PMID:25741868|PMID:28492532
1304950	Il21r	interleukin 21 receptor	gene	DOID:9008727	Ige Responsiveness, Atopic		ISO	RGD:1312687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IMMUNOGLOBULIN E, BASIC LEVEL OF, IN SERUM | ClinVar Annotator: match by term: IgE responsiveness, atopic	PMID:25741868|PMID:28492532
1304950	Il21r	interleukin 21 receptor	gene	DOID:9074	systemic lupus erythematosus		ISO	RDG:1312688	D	RGD:6892931|PMID:20424514	20120816	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:9074	systemic lupus erythematosus		ISO	RDG:1312688	D	RGD:6892937|PMID:19164519	20120817	RGD			
1304950	Il21r	interleukin 21 receptor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1312687	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:17911475
1304950	Il21r	interleukin 21 receptor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1312687	D	RGD:6892933|PMID:19644854	20120816	RGD		DNA:polymorphism: : rs3093301 (human)	
1304950	Il21r	interleukin 21 receptor	gene	DOID:9744	type 1 diabetes mellitus		ISO	RDG:1312688	D	RGD:6892930|PMID:19208913	20120816	RGD			
1304952	Pianp	PILR alpha associated neural protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304952	Pianp	PILR alpha associated neural protein	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1312691	D	RGD:13592920	20210902	MouseDO			
1304952	Pianp	PILR alpha associated neural protein	gene	DOID:1324	lung cancer		ISO	RGD:1606434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304952	Pianp	PILR alpha associated neural protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304952	Pianp	PILR alpha associated neural protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304953	Tsacc	TSSK6 activating co-chaperone	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304953	Tsacc	TSSK6 activating co-chaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304953	Tsacc	TSSK6 activating co-chaperone	gene	DOID:0060058	lymphoma		ISO	RGD:1604756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304953	Tsacc	TSSK6 activating co-chaperone	gene	DOID:10534	stomach cancer		ISO	RGD:1604756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304953	Tsacc	TSSK6 activating co-chaperone	gene	DOID:1115	sarcoma		ISO	RGD:1604756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304953	Tsacc	TSSK6 activating co-chaperone	gene	DOID:1324	lung cancer		ISO	RGD:1604756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304953	Tsacc	TSSK6 activating co-chaperone	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304953	Tsacc	TSSK6 activating co-chaperone	gene	DOID:2394	ovarian cancer		ISO	RGD:1604756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304953	Tsacc	TSSK6 activating co-chaperone	gene	DOID:5041	esophageal cancer		ISO	RGD:1604756	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304953	Tsacc	TSSK6 activating co-chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304953	Tsacc	TSSK6 activating co-chaperone	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304953	Tsacc	TSSK6 activating co-chaperone	gene	DOID:9256	colorectal cancer		ISO	RGD:1604756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304954	Pold2	DNA polymerase delta 2, accessory subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304954	Pold2	DNA polymerase delta 2, accessory subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304954	Pold2	DNA polymerase delta 2, accessory subunit	gene	DOID:1115	sarcoma		ISO	RGD:1312693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304954	Pold2	DNA polymerase delta 2, accessory subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304954	Pold2	DNA polymerase delta 2, accessory subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1312693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304954	Pold2	DNA polymerase delta 2, accessory subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1312693	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304954	Pold2	DNA polymerase delta 2, accessory subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304954	Pold2	DNA polymerase delta 2, accessory subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304954	Pold2	DNA polymerase delta 2, accessory subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304954	Pold2	DNA polymerase delta 2, accessory subunit	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304954	Pold2	DNA polymerase delta 2, accessory subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1304956	Ebf3	EBF transcription factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:0050591	tooth agenesis		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:25741868|PMID:28017370|PMID:28017372
1304956	Ebf3	EBF transcription factor 3	gene	DOID:0050840	cervical dystonia		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1346410	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1304956	Ebf3	EBF transcription factor 3	gene	DOID:0060135	apraxia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:25741868|PMID:28017370|PMID:28017372
1304956	Ebf3	EBF transcription factor 3	gene	DOID:0070309	absence epilepsy		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Absence seizures	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:28017373|PMID:32637629
1304956	Ebf3	EBF transcription factor 3	gene	DOID:0081176	hypotonia, ataxia, and delayed development syndrome		ISO	RGD:1346410	D	RGD:7240710	20190315	OMIM			
1304956	Ebf3	EBF transcription factor 3	gene	DOID:0081176	hypotonia, ataxia, and delayed development syndrome		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EBF3-related condition | ClinVar Annotator: match by term: EBF3-related disorder | ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome	PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:28492532|PMID:29162653|PMID:30577886|PMID:31952901|PMID:32366537|PMID:32581362|PMID:32637629|PMID:33102976|PMID:33956416|PMID:35340043|PMID:35346031|PMID:36937983|PMID:37090941|PMID:38703036
1304956	Ebf3	EBF transcription factor 3	gene	DOID:0111428	essential tremor 1		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868
1304956	Ebf3	EBF transcription factor 3	gene	DOID:1059	intellectual disability		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28017370|PMID:28017372
1304956	Ebf3	EBF transcription factor 3	gene	DOID:1059	intellectual disability		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28017370|PMID:28017372|PMID:28487885
1304956	Ebf3	EBF transcription factor 3	gene	DOID:10907	microcephaly		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28017370|PMID:28487885
1304956	Ebf3	EBF transcription factor 3	gene	DOID:10908	hydrocephalus		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28017370|PMID:28017372
1304956	Ebf3	EBF transcription factor 3	gene	DOID:11111	hydronephrosis		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:28017370|PMID:28487885
1304956	Ebf3	EBF transcription factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:11383	cryptorchidism		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:28017370|PMID:28017372
1304956	Ebf3	EBF transcription factor 3	gene	DOID:1143	exotropia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:28017370|PMID:28017372
1304956	Ebf3	EBF transcription factor 3	gene	DOID:11782	astigmatism		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:29162653
1304956	Ebf3	EBF transcription factor 3	gene	DOID:11830	myopia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28017373|PMID:32637629
1304956	Ebf3	EBF transcription factor 3	gene	DOID:12143	neurogenic bladder		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:28017373|PMID:32366537
1304956	Ebf3	EBF transcription factor 3	gene	DOID:12215	oligohydramnios		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28017370|PMID:28017372
1304956	Ebf3	EBF transcription factor 3	gene	DOID:12849	autistic disorder		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043
1304956	Ebf3	EBF transcription factor 3	gene	DOID:12849	autistic disorder		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28017370|PMID:28017372
1304956	Ebf3	EBF transcription factor 3	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
1304956	Ebf3	EBF transcription factor 3	gene	DOID:13501	Moebius syndrome		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	PMID:25741868|PMID:28017370|PMID:33956416
1304956	Ebf3	EBF transcription factor 3	gene	DOID:1909	melanoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:3275	thymoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:4258	Weissenbacher-Zweymuller syndrome		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate	PMID:25741868|PMID:28017370|PMID:28017372
1304956	Ebf3	EBF transcription factor 3	gene	DOID:540	strabismus		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:29162653|PMID:32637629
1304956	Ebf3	EBF transcription factor 3	gene	DOID:557	kidney disease		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:28017373|PMID:32366537
1304956	Ebf3	EBF transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:630	genetic disease		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19627984|PMID:20300201|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:29062322|PMID:29162653|PMID:32637629|PMID:33956416|PMID:34177436|PMID:35340043|PMID:36937983
1304956	Ebf3	EBF transcription factor 3	gene	DOID:630	genetic disease		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19627984|PMID:20300201|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:29062322|PMID:29162653|PMID:32637629|PMID:34177436|PMID:36937983
1304956	Ebf3	EBF transcription factor 3	gene	DOID:630	genetic disease		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19627984|PMID:20300201|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:29062322|PMID:29162653|PMID:32637629|PMID:33102976|PMID:34177436|PMID:36937983
1304956	Ebf3	EBF transcription factor 3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28017370|PMID:28017372
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9000495	Tremor		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9001510	Funnel Chest		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:28017370|PMID:28487885
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9001581	Constipation		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9001722	Dysarthria		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28017370|PMID:28017372
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868|PMID:28017370|PMID:28017372
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28017370|PMID:31952901
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28017370|PMID:28017373|PMID:28487885|PMID:32637629
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9004866	Ataxia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Dyssynergia	PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:29162653|PMID:32637629
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9005077	Joint Instability		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:25741868|PMID:28017370|PMID:28017372|PMID:29162653
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:28017370|PMID:28017372
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346410	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia | ClinVar Annotator: match by term: poor muscle tone	PMID:20876732|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:29162653|PMID:32366537|PMID:7796816
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1346410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: walking difficulty	PMID:25741868|PMID:28492532
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9007573	Flatfoot		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28017370|PMID:28017372|PMID:28487885
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:25741868|PMID:28017370|PMID:28487885
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28017370|PMID:28017372
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28017370|PMID:28487885
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9834	hyperopia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28017373|PMID:32637629
1304956	Ebf3	EBF transcription factor 3	gene	DOID:9840	esotropia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:28017370|PMID:28017372
1304957	Atoh7	atonal bHLH transcription factor 7	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:1312698	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Foveal hypoplasia	PMID:28492532|PMID:31696227
1304957	Atoh7	atonal bHLH transcription factor 7	gene	DOID:9005204	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive		ISO	RGD:1312698	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304957	Atoh7	atonal bHLH transcription factor 7	gene	DOID:9005204	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive		ISO	RGD:1312698	D	RGD:7240710	20140226	OMIM			
1304957	Atoh7	atonal bHLH transcription factor 7	gene	DOID:9005204	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive		ISO	RGD:1312698	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATOH7-related condition | ClinVar Annotator: match by term: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive	PMID:22068589|PMID:25741868|PMID:28492532
1304958	Tbc1d19	TBC1 domain family, member 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304958	Tbc1d19	TBC1 domain family, member 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304958	Tbc1d19	TBC1 domain family, member 19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304958	Tbc1d19	TBC1 domain family, member 19	gene	DOID:1324	lung cancer		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304958	Tbc1d19	TBC1 domain family, member 19	gene	DOID:4362	cervical cancer		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304958	Tbc1d19	TBC1 domain family, member 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1343247	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304958	Tbc1d19	TBC1 domain family, member 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304958	Tbc1d19	TBC1 domain family, member 19	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304958	Tbc1d19	TBC1 domain family, member 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304958	Tbc1d19	TBC1 domain family, member 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304959	Rdh13	retinol dehydrogenase 13	gene	DOID:0060058	lymphoma		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304959	Rdh13	retinol dehydrogenase 13	gene	DOID:10534	stomach cancer		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304959	Rdh13	retinol dehydrogenase 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304959	Rdh13	retinol dehydrogenase 13	gene	DOID:1115	sarcoma		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304959	Rdh13	retinol dehydrogenase 13	gene	DOID:1324	lung cancer		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304959	Rdh13	retinol dehydrogenase 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304959	Rdh13	retinol dehydrogenase 13	gene	DOID:3275	thymoma		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304959	Rdh13	retinol dehydrogenase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304959	Rdh13	retinol dehydrogenase 13	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312701	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27865848
1304959	Rdh13	retinol dehydrogenase 13	gene	DOID:9003566	Mesothelioma		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1304959	Rdh13	retinol dehydrogenase 13	gene	DOID:9005749	Necrosis		ISO	RGD:1312701	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27865848
1304959	Rdh13	retinol dehydrogenase 13	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1312701	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27865848
1304959	Rdh13	retinol dehydrogenase 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304960	Gdap1l1	ganglioside-induced differentiation-associated protein 1-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304960	Gdap1l1	ganglioside-induced differentiation-associated protein 1-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304960	Gdap1l1	ganglioside-induced differentiation-associated protein 1-like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304960	Gdap1l1	ganglioside-induced differentiation-associated protein 1-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304960	Gdap1l1	ganglioside-induced differentiation-associated protein 1-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:0080717	infantile liver failure syndrome 1		ISO	RGD:1312707	D	RGD:7240710	20150708	OMIM			
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:0080717	infantile liver failure syndrome 1		ISO	RGD:1312707	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Infantile liver failure syndrome 1 | ClinVar Annotator: match by term: LARS1-related condition	PMID:16199547|PMID:22607940|PMID:25051973|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30349989|PMID:32699352|PMID:33300650|PMID:33726816|PMID:34023347|PMID:34194004|PMID:36135330|PMID:38844943
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:0080778	transient infantile liver failure		ISO	RGD:1312707	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT	PMID:25051973|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30349989|PMID:32699352|PMID:33726816|PMID:34023347|PMID:34194004|PMID:36135330
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:16199547|PMID:25741868|PMID:28492532|PMID:32699352|PMID:33300650
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:1115	sarcoma		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:1324	lung cancer		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer)	
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312707	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:25741868|PMID:28492532|PMID:32699352|PMID:33300650
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:25741868|PMID:28492532|PMID:32699352|PMID:33300650
1304962	Lars1	leucyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:2298744	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:20398886|PMID:24339724|PMID:24780881|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26496393|PMID:28492532|PMID:28763557
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:0110364	retinitis pigmentosa 54		ISO	RGD:2298744	D	RGD:7240710	20130425	OMIM			
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:0110364	retinitis pigmentosa 54		ISO	RGD:2298744	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 23 | ClinVar Annotator: match by term: PCARE-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 54 | ClinVar Annotator: match by term: Retinitis pigmentosa 54	PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:24339724|PMID:24780881|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26496393|PMID:28492532|PMID:28763557|PMID:31725702|PMID:32312818
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:0110364	retinitis pigmentosa 54		ISS	RGD:1312708	D	RGD:13592920	20230718	MouseDO		OMIM:613428	
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:2298744	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:23105016|PMID:24339724|PMID:24780881|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26497376|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:30054919|PMID:30718709|PMID:31725702|PMID:33546218
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:2298744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa with macular involvement	PMID:20398884|PMID:20398886|PMID:21412943|PMID:24339724|PMID:25741868|PMID:26496393|PMID:26497376|PMID:28492532|PMID:28763557|PMID:30054919|PMID:30718709|PMID:34906470
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:2298744	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa with macular involvement	PMID:20398884|PMID:20398886|PMID:21412943|PMID:24339724|PMID:24780881|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26496393|PMID:26497376|PMID:28492532|PMID:28763557|PMID:30054919|PMID:30718709|PMID:32531858|PMID:34906470|PMID:36460718|PMID:36819107
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:2298744	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa with macular involvement	PMID:20398886|PMID:21412943|PMID:24339724|PMID:24780881|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26496393|PMID:26497376|PMID:28492532|PMID:28763557|PMID:30054919|PMID:30718709|PMID:34906470
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:1115	sarcoma		ISO	RGD:2298744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:5679	retinal disease		ISO	RGD:2298744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:20398886|PMID:21412943|PMID:24339724|PMID:25741868|PMID:26496393|PMID:27353947|PMID:28041643|PMID:28492532|PMID:31964843|PMID:32531858|PMID:32581362|PMID:33546218|PMID:34426522|PMID:34906470|PMID:35836572|PMID:36460718|PMID:36819107
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:5723	optic atrophy		ISO	RGD:2298744	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2298744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:630	genetic disease		ISO	RGD:2298744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:8501	fundus dystrophy		ISO	RGD:2298744	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:20398886|PMID:21412943|PMID:23105016|PMID:24339724|PMID:24938718|PMID:25741868|PMID:26496393|PMID:27353947|PMID:28492532|PMID:28763557|PMID:312135|PMID:31213501|PMID:31456290|PMID:3196484|PMID:31964843|PMID:32531858|PMID:33576794|PMID:34426522|PMID:34440443|PMID:34906470|PMID:34964967|PMID:36460718|PMID:36819107
1304963	Pcare	photoreceptor cilium actin regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2298744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304964	Aifm2	AIF family member 2, ferroptosis suppressor	gene	DOID:10534	stomach cancer		ISO	RGD:1312709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304964	Aifm2	AIF family member 2, ferroptosis suppressor	gene	DOID:1115	sarcoma		ISO	RGD:1312709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304964	Aifm2	AIF family member 2, ferroptosis suppressor	gene	DOID:1909	melanoma		ISO	RGD:1312709	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304964	Aifm2	AIF family member 2, ferroptosis suppressor	gene	DOID:3275	thymoma		ISO	RGD:1312709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304964	Aifm2	AIF family member 2, ferroptosis suppressor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304964	Aifm2	AIF family member 2, ferroptosis suppressor	gene	DOID:5041	esophageal cancer		ISO	RGD:1312709	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304964	Aifm2	AIF family member 2, ferroptosis suppressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304964	Aifm2	AIF family member 2, ferroptosis suppressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304964	Aifm2	AIF family member 2, ferroptosis suppressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312709	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304965	Rhoc	ras homolog family member C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304965	Rhoc	ras homolog family member C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304965	Rhoc	ras homolog family member C	gene	DOID:10534	stomach cancer		ISO	RGD:1312711	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304965	Rhoc	ras homolog family member C	gene	DOID:1612	breast cancer	severity	ISO	RGD:1312711	D	RGD:2298874|PMID:12237774	20080730	RGD		protein:increased expression:breast	
1304965	Rhoc	ras homolog family member C	gene	DOID:1909	melanoma		ISO	RGD:1312711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304965	Rhoc	ras homolog family member C	gene	DOID:2394	ovarian cancer		ISO	RGD:1312711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304965	Rhoc	ras homolog family member C	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1312711	D	RGD:2298873|PMID:12808121	20080729	RGD		mRNA:increased expression:ovary	
1304965	Rhoc	ras homolog family member C	gene	DOID:4362	cervical cancer		ISO	RGD:1312711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304965	Rhoc	ras homolog family member C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304965	Rhoc	ras homolog family member C	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1304965	Rhoc	ras homolog family member C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304965	Rhoc	ras homolog family member C	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1312711	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:18230616
1304965	Rhoc	ras homolog family member C	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1312711	D	RGD:2298873|PMID:12808121	20080729	RGD		associated with Ovarian Neoplasms	
1304965	Rhoc	ras homolog family member C	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1312711	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
1304965	Rhoc	ras homolog family member C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312711	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304966	Cutc	cutC copper transporter	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304966	Cutc	cutC copper transporter	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304966	Cutc	cutC copper transporter	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304966	Cutc	cutC copper transporter	gene	DOID:1909	melanoma		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304966	Cutc	cutC copper transporter	gene	DOID:4362	cervical cancer		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304966	Cutc	cutC copper transporter	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304966	Cutc	cutC copper transporter	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304966	Cutc	cutC copper transporter	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304967	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304967	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:0070793	FICUS syndrome		ISO	RGD:1312715	D	RGD:7240710	20250730	OMIM			
1304967	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:0070793	FICUS syndrome		ISO	RGD:1312715	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FICUS SYNDROME	PMID:25741868|PMID:31010896
1304967	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304967	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:1115	sarcoma		ISO	RGD:1312715	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304967	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:5041	esophageal cancer		ISO	RGD:1312715	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304967	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304967	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312715	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304967	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304967	Lsm1	LSM1 homolog, mRNA degradation associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304968	Rsrc1	arginine and serine rich coiled-coil 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304968	Rsrc1	arginine and serine rich coiled-coil 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304968	Rsrc1	arginine and serine rich coiled-coil 1	gene	DOID:0060058	lymphoma		ISO	RGD:1602488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304968	Rsrc1	arginine and serine rich coiled-coil 1	gene	DOID:0081231	autosomal recessive intellectual developmental disorder 70		ISO	RGD:1602488	D	RGD:7240710	20190605	OMIM			
1304968	Rsrc1	arginine and serine rich coiled-coil 1	gene	DOID:0081231	autosomal recessive intellectual developmental disorder 70		ISO	RGD:1602488	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 70 | ClinVar Annotator: match by term: RSRC1-related disorder	PMID:25741868
1304968	Rsrc1	arginine and serine rich coiled-coil 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304968	Rsrc1	arginine and serine rich coiled-coil 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304968	Rsrc1	arginine and serine rich coiled-coil 1	gene	DOID:3070	high grade glioma		ISO	RGD:1602488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304968	Rsrc1	arginine and serine rich coiled-coil 1	gene	DOID:5419	schizophrenia		ISO	RGD:1602488	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1304968	Rsrc1	arginine and serine rich coiled-coil 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1304968	Rsrc1	arginine and serine rich coiled-coil 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304968	Rsrc1	arginine and serine rich coiled-coil 1	gene	DOID:630	genetic disease		ISO	RGD:1602488	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1304969	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304969	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304969	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304969	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304969	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304969	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1603258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304969	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304969	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304969	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304969	Eef2kmt	eukaryotic elongation factor 2 lysine methyltransferase	gene	DOID:9256	colorectal cancer		ISO	RGD:1603258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:0070278	primary autosomal recessive microcephaly 7		ISO	RGD:1312720	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:0070278	primary autosomal recessive microcephaly 7		ISO	RGD:1312720	D	RGD:7240710	20141015	OMIM			
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:0070278	primary autosomal recessive microcephaly 7		ISO	RGD:1312720	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive | ClinVar Annotator: match by term: STIL-related condition	PMID:18414213|PMID:19215732|PMID:20301772|PMID:23772360|PMID:24986681|PMID:25741868|PMID:26467025|PMID:26548919|PMID:26633542|PMID:28492532|PMID:33132204
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:0080600	COVID-19		ISO	RGD:1312720	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:10534	stomach cancer		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:1059	intellectual disability		ISO	RGD:1312720	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:2661	myoepithelioma		ISO	RGD:1312720	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:3275	thymoma		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:630	genetic disease		ISO	RGD:1312720	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23772360|PMID:25741868|PMID:26467025|PMID:28492532
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312720	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:18414213|PMID:23772360|PMID:25741868|PMID:26467025|PMID:26548919|PMID:28492532
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304972	Stil	STIL, centriolar assembly protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304973	Mospd3	motile sperm domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304973	Mospd3	motile sperm domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1312722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304973	Mospd3	motile sperm domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1312722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304973	Mospd3	motile sperm domain containing 3	gene	DOID:1682	congenital heart disease		ISO	RGD:1312723	D	RGD:1582660|PMID:15533722	20061116	RGD			
1304973	Mospd3	motile sperm domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1312722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304973	Mospd3	motile sperm domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304973	Mospd3	motile sperm domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304973	Mospd3	motile sperm domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304973	Mospd3	motile sperm domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1312725	D	RGD:151660337|PMID:26629180	20220303	RGD		DNA:SNP:3'utr: (rs7963551) (human)	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:0060058	lymphoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:0110673	congenital myasthenic syndrome 19		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 19	PMID:25741868
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:10155	intestinal cancer	disease_progression	ISO	RGD:1312726	D	RGD:151361160|PMID:27984746	20220225	RGD			
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:1115	sarcoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:1324	lung cancer		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1312725	D	RGD:151660351|PMID:18449888	20220304	RGD		DNA:SNP,haplotype:	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1312725	D	RGD:151660503|PMID:22382497	20220307	RGD		DNA:SNP: (rs4766394) (human)	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1312725	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:26013599
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:1909	melanoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:219	colon cancer	susceptibility	ISO	RGD:1312725	D	RGD:151361212|PMID:26735576	20220301	RGD		DNA:SNPs:3'utr: (rs1051669, rs11571475) (human)	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:3907	lung squamous cell carcinoma	ameliorates	ISO	RGD:1312726	D	RGD:151660334|PMID:28415565	20220303	RGD			
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1312725	D	RGD:151660345|PMID:22585858	20220303	RGD		DNA:SNP: (rs6489769) (human)	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1312725	D	RGD:151660355|PMID:32401173	20220307	RGD		DNA:SNPs,haplotype:multiple	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal cortex carcinoma	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:25741868
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:5409	lung small cell carcinoma	susceptibility	ISO	RGD:1312725	D	RGD:151660337|PMID:26629180	20220303	RGD		DNA:SNP:3'utr: (rs7963551) (human)	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:5409	lung small cell carcinoma	treatment	ISO	RGD:1312725	D	RGD:151660339|PMID:27531263	20220303	RGD		DNA:SNP: (rs10774474)(human)	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:684	hepatocellular carcinoma	onset	ISO	RGD:1312725	D	RGD:151361207|PMID:31719794	20220228	RGD		mRNA,protein:increased expression:liver (human)	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1312725	D	RGD:151361199|PMID:24729511	20220228	RGD		associated with hepatitis B;DNA:SNP:3'utr: (rs7963551) (human)	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:9000965	Neoplasm Metastasis	susceptibility	ISO	RGD:1312725	D	RGD:151361161|PMID:29245274	20220225	RGD		associated with colorectal cancer; DNA:SNP:3'utr: (rs7963551) (human)	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1312725	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:26013599
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:9256	colorectal cancer	onset	ISO	RGD:1312725	D	RGD:151361161|PMID:29245274	20220225	RGD		DNA:SNP,haplotypes:3'utr: (rs1051669) (human)	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1312725	D	RGD:151361212|PMID:26735576	20220301	RGD		DNA:SNPs:3'utr: (rs7963551, rs11226) (human)	
1304975	Rad52	RAD52 DNA repair protein	gene	DOID:9261	nasopharynx carcinoma	severity	ISO	RGD:1312725	D	RGD:151361208|PMID:25026830	20220301	RGD		protein:increased expression:nasopharynx (human)	
1304976	Cimap1c	ciliary microtubule associated protein 1C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304976	Cimap1c	ciliary microtubule associated protein 1C	gene	DOID:5041	esophageal cancer		ISO	RGD:1348133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304977	Nup214	nucleoporin 214	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304977	Nup214	nucleoporin 214	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304977	Nup214	nucleoporin 214	gene	DOID:10534	stomach cancer		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304977	Nup214	nucleoporin 214	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304977	Nup214	nucleoporin 214	gene	DOID:1115	sarcoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304977	Nup214	nucleoporin 214	gene	DOID:1324	lung cancer		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304977	Nup214	nucleoporin 214	gene	DOID:1909	melanoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304977	Nup214	nucleoporin 214	gene	DOID:4362	cervical cancer		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304977	Nup214	nucleoporin 214	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304977	Nup214	nucleoporin 214	gene	DOID:5041	esophageal cancer		ISO	RGD:1316779	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304977	Nup214	nucleoporin 214	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304977	Nup214	nucleoporin 214	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304977	Nup214	nucleoporin 214	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304977	Nup214	nucleoporin 214	gene	DOID:9001487	Facies		ISO	RGD:1316779	D	RGD:8554872	20221018	ClinVar		ClinVar Annotator: match by term: Facial dysmorphism	
1304977	Nup214	nucleoporin 214	gene	DOID:9002011	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9		ISO	RGD:1316779	D	RGD:7240710	20260617	OMIM			
1304977	Nup214	nucleoporin 214	gene	DOID:9002011	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9		ISO	RGD:1316779	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 9 | ClinVar Annotator: match by term: encephalopathy, acute, infection-induced, susceptibility to, 9	PMID:25741868|PMID:31178128
1304977	Nup214	nucleoporin 214	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304977	Nup214	nucleoporin 214	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1304977	Nup214	nucleoporin 214	gene	DOID:9008582	Developmental Disease		ISO	RGD:1316779	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1304977	Nup214	nucleoporin 214	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304977	Nup214	nucleoporin 214	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316779	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	
1304977	Nup214	nucleoporin 214	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316779	D	RGD:7240710	20260617	OMIM			
1304977	Nup214	nucleoporin 214	gene	DOID:936	brain disease		ISO	RGD:1316779	D	RGD:8554872	20230502	ClinVar		ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868
1304977	Nup214	nucleoporin 214	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1316779	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	
1304977	Nup214	nucleoporin 214	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1316779	D	RGD:7240710	20260617	OMIM			
1304977	Nup214	nucleoporin 214	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1316779	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Acute lymphoid leukemia	PMID:25741868
1304978	Mettl15	methyltransferase 15, mitochondrial 12S rRNA N4-cytidine	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304978	Mettl15	methyltransferase 15, mitochondrial 12S rRNA N4-cytidine	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304978	Mettl15	methyltransferase 15, mitochondrial 12S rRNA N4-cytidine	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1312730	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1312730	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35022897
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:3946	pituitary-dependent Cushing's disease		ISO	RGD:1312730	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25485838
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:3946	pituitary-dependent Cushing's disease		ISO	RGD:1312730	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pituitary dependent hypercortisolism	
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:4362	cervical cancer		ISO	RGD:1312730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1312730	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:7004	ACTH-secreting pituitary adenoma		ISO	RGD:1312730	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25485838
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:7004	ACTH-secreting pituitary adenoma		ISO	RGD:1312730	D	RGD:7240710	20190315	OMIM			
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:7004	ACTH-secreting pituitary adenoma		ISO	RGD:1312730	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: USP8-related condition	PMID:25741868|PMID:28492532
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304979	Usp8	ubiquitin specific peptidase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304980	Mapkapk3	MAPK activated protein kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304980	Mapkapk3	MAPK activated protein kinase 3	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1312732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:28492532
1304980	Mapkapk3	MAPK activated protein kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304980	Mapkapk3	MAPK activated protein kinase 3	gene	DOID:0060863	patterned macular dystrophy		ISO	RGD:1312732	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1304980	Mapkapk3	MAPK activated protein kinase 3	gene	DOID:0060865	patterned macular dystrophy 3		ISO	RGD:1312732	D	RGD:7240710	20190315	OMIM			
1304980	Mapkapk3	MAPK activated protein kinase 3	gene	DOID:0060865	patterned macular dystrophy 3		ISO	RGD:1312732	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MAPKAPK3-related condition | ClinVar Annotator: match by term: Patterned macular dystrophy 3	PMID:25741868|PMID:28492532
1304980	Mapkapk3	MAPK activated protein kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304980	Mapkapk3	MAPK activated protein kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304980	Mapkapk3	MAPK activated protein kinase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1304980	Mapkapk3	MAPK activated protein kinase 3	gene	DOID:3275	thymoma		ISO	RGD:1312732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304980	Mapkapk3	MAPK activated protein kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304980	Mapkapk3	MAPK activated protein kinase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304980	Mapkapk3	MAPK activated protein kinase 3	gene	DOID:8501	fundus dystrophy		ISO	RGD:1312732	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1304980	Mapkapk3	MAPK activated protein kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304981	Lpxn	leupaxin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304981	Lpxn	leupaxin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304981	Lpxn	leupaxin	gene	DOID:1115	sarcoma		ISO	RGD:1312734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304981	Lpxn	leupaxin	gene	DOID:4362	cervical cancer		ISO	RGD:1312734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304981	Lpxn	leupaxin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304981	Lpxn	leupaxin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312734	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1304981	Lpxn	leupaxin	gene	DOID:9256	colorectal cancer		ISO	RGD:1312734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1312738	D	RGD:11554173	20221101	CTD		CTD Direct Evidence: marker/mechanism	PMID:21685914
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:0060058	lymphoma		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:0060975	polycystic liver disease 2		ISO	RGD:1312738	D	RGD:14402049|PMID:15133510	20190528	RGD		DNA:mutations:multiple	
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:0060975	polycystic liver disease 2		ISO	RGD:1312738	D	RGD:7240710	20190315	OMIM			
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:0060975	polycystic liver disease 2		ISO	RGD:1312738	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 2 | ClinVar Annotator: match by term: Polycystic liver disease 2 with or without kidney cysts | ClinVar Annotator: match by term: SEC63-related condition	PMID:20095989|PMID:23209713|PMID:25741868|PMID:28375157|PMID:28492532
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:0060980	polycystic liver disease 1		ISO	RGD:1312738	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polycystic liver disease 1	PMID:25741868
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1312738	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21685914
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:1909	melanoma		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:2975	cystic kidney disease		ISO	RGD:1312738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:3070	high grade glioma		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:3275	thymoma		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1312738	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:630	genetic disease		ISO	RGD:1312738	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20095989|PMID:25741868|PMID:28492532
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:1312738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1304984	Sec63	SEC63 protein translocation regulator	gene	DOID:9452	steatotic liver disease		ISO	RGD:1312738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: fatty liver	PMID:25741868
1304988	Wnt10b	Wnt family member 10B	gene	DOID:0090026	split hand-foot malformation 6		ISO	RGD:1312744	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1304988	Wnt10b	Wnt family member 10B	gene	DOID:0090026	split hand-foot malformation 6		ISO	RGD:1312744	D	RGD:7240710	20130221	OMIM			
1304988	Wnt10b	Wnt family member 10B	gene	DOID:0090026	split hand-foot malformation 6		ISO	RGD:1312744	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ECTRODACTYLY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: SPLIT-HAND/FOOT MALFORMATION 6 | ClinVar Annotator: match by term: Split hand-foot malformation 6 | ClinVar Annotator: match by term: WNT10B-related condition	PMID:18515319|PMID:25741868|PMID:27321946|PMID:28492532|PMID:29364501|PMID:31050392|PMID:31502745|PMID:34394812|PMID:36035248
1304988	Wnt10b	Wnt family member 10B	gene	DOID:1148	polydactyly		ISO	RGD:1312744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: polydactyly	PMID:25741868
1304988	Wnt10b	Wnt family member 10B	gene	DOID:630	genetic disease		ISO	RGD:1312744	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1304988	Wnt10b	Wnt family member 10B	gene	DOID:9001843	Selective Tooth Agenesis 8		ISO	RGD:1312744	D	RGD:7240710	20190315	OMIM			
1304988	Wnt10b	Wnt family member 10B	gene	DOID:9001843	Selective Tooth Agenesis 8		ISO	RGD:1312744	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 8 | ClinVar Annotator: match by term: Tooth agenesis, selective, 8	PMID:25741868|PMID:28492532
1304988	Wnt10b	Wnt family member 10B	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312744	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
1304988	Wnt10b	Wnt family member 10B	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1312744	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
1304988	Wnt10b	Wnt family member 10B	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1312744	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12437293
1304988	Wnt10b	Wnt family member 10B	gene	DOID:9970	obesity		ISO	RGD:1312744	D	RGD:2300029|PMID:16477437	20080829	RGD			
1304988	Wnt10b	Wnt family member 10B	gene	DOID:9970	obesity		ISO	RGD:1312745	D	RGD:2326237|PMID:17578883	20100701	RGD			
1304990	Kctd5	potassium channel tetramerization domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304990	Kctd5	potassium channel tetramerization domain containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304990	Kctd5	potassium channel tetramerization domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1312748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304990	Kctd5	potassium channel tetramerization domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304990	Kctd5	potassium channel tetramerization domain containing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304990	Kctd5	potassium channel tetramerization domain containing 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304990	Kctd5	potassium channel tetramerization domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304990	Kctd5	potassium channel tetramerization domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304991	Thoc5	THO complex subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304991	Thoc5	THO complex subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304991	Thoc5	THO complex subunit 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304991	Thoc5	THO complex subunit 5	gene	DOID:1115	sarcoma		ISO	RGD:1349222	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304991	Thoc5	THO complex subunit 5	gene	DOID:1324	lung cancer		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304991	Thoc5	THO complex subunit 5	gene	DOID:1909	melanoma		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304991	Thoc5	THO complex subunit 5	gene	DOID:2355	anemia		ISO	RGD:1312750	D	RGD:2317224|PMID:20051105	20100322	RGD			
1304991	Thoc5	THO complex subunit 5	gene	DOID:3070	high grade glioma		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304991	Thoc5	THO complex subunit 5	gene	DOID:3275	thymoma		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304991	Thoc5	THO complex subunit 5	gene	DOID:3459	breast carcinoma		ISO	RGD:1349222	D	RGD:2317225|PMID:16959974	20100322	RGD		DNA:missense mutations:cds:c.1139C>A, c.1495G>A (human)	
1304991	Thoc5	THO complex subunit 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1304991	Thoc5	THO complex subunit 5	gene	DOID:4362	cervical cancer		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304991	Thoc5	THO complex subunit 5	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1304991	Thoc5	THO complex subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304991	Thoc5	THO complex subunit 5	gene	DOID:615	leukopenia		ISO	RGD:1312750	D	RGD:2317224|PMID:20051105	20100322	RGD			
1304991	Thoc5	THO complex subunit 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1304991	Thoc5	THO complex subunit 5	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1304991	Thoc5	THO complex subunit 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304991	Thoc5	THO complex subunit 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304992	Fkbp3	FKBP prolyl isomerase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304992	Fkbp3	FKBP prolyl isomerase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304992	Fkbp3	FKBP prolyl isomerase 3	gene	DOID:1115	sarcoma		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304992	Fkbp3	FKBP prolyl isomerase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304992	Fkbp3	FKBP prolyl isomerase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304992	Fkbp3	FKBP prolyl isomerase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304993	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304993	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304993	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1304993	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304993	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304993	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312753	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1304993	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:9007532	TAN-ALMURSHEDI SYNDROME		ISO	RGD:1312753	D	RGD:7240710	20240306	OMIM			
1304993	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:9007532	TAN-ALMURSHEDI SYNDROME		ISO	RGD:1312753	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: TAN-ALMURSHEDI SYNDROME	PMID:25741868|PMID:37179472
1304993	Drg1	developmentally regulated GTP binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304994	Cebpz	CCAAT/enhancer binding protein zeta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304994	Cebpz	CCAAT/enhancer binding protein zeta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304994	Cebpz	CCAAT/enhancer binding protein zeta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304994	Cebpz	CCAAT/enhancer binding protein zeta	gene	DOID:1324	lung cancer		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304994	Cebpz	CCAAT/enhancer binding protein zeta	gene	DOID:2394	ovarian cancer		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304994	Cebpz	CCAAT/enhancer binding protein zeta	gene	DOID:3070	high grade glioma		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304994	Cebpz	CCAAT/enhancer binding protein zeta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312755	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1304994	Cebpz	CCAAT/enhancer binding protein zeta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304994	Cebpz	CCAAT/enhancer binding protein zeta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304995	Nek4	NIMA-related kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1304995	Nek4	NIMA-related kinase 4	gene	DOID:0060340	ciliopathy		ISO	RGD:1312757	D	RGD:8554872	20171017	ClinVar		ClinVar Annotator: match by term: Ciliopathy	
1304995	Nek4	NIMA-related kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1312757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304995	Nek4	NIMA-related kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1304995	Nek4	NIMA-related kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1312757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304995	Nek4	NIMA-related kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1312757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304995	Nek4	NIMA-related kinase 4	gene	DOID:3275	thymoma		ISO	RGD:1312757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1304995	Nek4	NIMA-related kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1312757	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304995	Nek4	NIMA-related kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304995	Nek4	NIMA-related kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1304995	Nek4	NIMA-related kinase 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1304995	Nek4	NIMA-related kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304995	Nek4	NIMA-related kinase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1312757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1304996	Kif1a	kinesin family member 1A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:1312759	D	RGD:12911225|PMID:21820098	20170710	RGD		DNA:frameshift mutations:exon:p.Leu947Argfs¿¿¿4 (c.2840delT), p.Ser1758Glnfs¿¿¿7 (c.5271dupC) (human)	
1304996	Kif1a	kinesin family member 1A	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:1312759	D	RGD:12911226|PMID:25265257	20170710	RGD		DNA:missense mutations: :multiple	
1304996	Kif1a	kinesin family member 1A	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE	PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28492532|PMID:28554332|PMID:28970574|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:36284339
1304996	Kif1a	kinesin family member 1A	gene	DOID:0050562	West syndrome		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar Annotator: match by term: Dysmetria	PMID:25209998|PMID:25741868|PMID:28492532|PMID:29589274|PMID:31488895
1304996	Kif1a	kinesin family member 1A	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165
1304996	Kif1a	kinesin family member 1A	gene	DOID:0050890	synucleinopathy		IEP		D	RGD:11049591|PMID:19295143	20170713	RGD			
1304996	Kif1a	kinesin family member 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304996	Kif1a	kinesin family member 1A	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:25741868|PMID:26467025|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:0050952	spastic ataxia		ISO	RGD:1312759	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sporadic amyotrophic lateral sclerosis	PMID:25741868
1304996	Kif1a	kinesin family member 1A	gene	DOID:0060249	scoliosis		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26467025|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:0060260	ptosis		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088
1304996	Kif1a	kinesin family member 1A	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angelman syndrome-like	PMID:25741868
1304996	Kif1a	kinesin family member 1A	gene	DOID:0070039	NESCAV syndrome		ISO	RGD:1312759	D	RGD:7240710	20140911	OMIM			
1304996	Kif1a	kinesin family member 1A	gene	DOID:0070039	NESCAV syndrome		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar Annotator: match by term: NESCAV SYNDROME	PMID:16199547|PMID:17576681|PMID:21376300|PMID:21820098|PMID:22258533|PMID:25209998|PMID:25265257|PMID:25533962|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26994895|PMID:27034427|PMID:27146152|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28927378|PMID:28970574|PMID:29589274|PMID:29915382|PMID:30144970|PMID:30385166|PMID:30564185|PMID:30582020|PMID:31069529|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32343762|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34015165|PMID:34354735|PMID:34356170|PMID:34445196|PMID:34469436|PMID:34487232|PMID:34782662|PMID:35132656|PMID:35917346|PMID:36247768|PMID:36284339|PMID:36305856|PMID:37251230|PMID:37541188|PMID:37784170|PMID:38785164|PMID:39076207|PMID:39730866|PMID:41560358|PMID:9536098
1304996	Kif1a	kinesin family member 1A	gene	DOID:0070147	hereditary sensory neuropathy type 2C		ISO	RGD:1312759	D	RGD:7240710	20140911	OMIM			
1304996	Kif1a	kinesin family member 1A	gene	DOID:0070147	hereditary sensory neuropathy type 2C		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 2C	PMID:16199547|PMID:17576681|PMID:21376300|PMID:21820098|PMID:22258533|PMID:25265257|PMID:25533962|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26994895|PMID:27034427|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28927378|PMID:28970574|PMID:29915382|PMID:30144970|PMID:30385166|PMID:30564185|PMID:30582020|PMID:31069529|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32343762|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34015165|PMID:34354735|PMID:34356170|PMID:34445196|PMID:34469436|PMID:34487232|PMID:34782662|PMID:35132656|PMID:35917346|PMID:36247768|PMID:36284339|PMID:36305856|PMID:37251230|PMID:37541188|PMID:38785164|PMID:39076207|PMID:41560358|PMID:9536098
1304996	Kif1a	kinesin family member 1A	gene	DOID:0070155	hereditary sensory and autonomic neuropathy type 2A		ISO	RGD:1312759	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A	PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28970574|PMID:30564185|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:32096284|PMID:32737135|PMID:32860008
1304996	Kif1a	kinesin family member 1A	gene	DOID:0070155	hereditary sensory and autonomic neuropathy type 2A		ISO	RGD:1312759	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A	PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28970574|PMID:30564185|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:32096284|PMID:32174959|PMID:32737135|PMID:32860008
1304996	Kif1a	kinesin family member 1A	gene	DOID:0070155	hereditary sensory and autonomic neuropathy type 2A		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A	PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28492532|PMID:28554332|PMID:28970574|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:36284339
1304996	Kif1a	kinesin family member 1A	gene	DOID:0070161	hereditary sensory and autonomic neuropathy type 2		ISO	RGD:1312759	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type II | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2	PMID:21820098|PMID:22258533|PMID:25265257|PMID:28492532|PMID:28970574|PMID:31616253
1304996	Kif1a	kinesin family member 1A	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452
1304996	Kif1a	kinesin family member 1A	gene	DOID:0070646	hereditary spastic paraplegia 30B		ISO	RGD:1312759	D	RGD:11554173	20240723	CTD		CTD Direct Evidence: marker/mechanism	
1304996	Kif1a	kinesin family member 1A	gene	DOID:0070646	hereditary spastic paraplegia 30B		ISO	RGD:1312759	D	RGD:7240710	20240717	OMIM			
1304996	Kif1a	kinesin family member 1A	gene	DOID:0070646	hereditary spastic paraplegia 30B		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 30B, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia 30b, autosomal recessive	PMID:22258533|PMID:25741868|PMID:28492532|PMID:28832565|PMID:31785789|PMID:32096284|PMID:33880452|PMID:34445196|PMID:41560358
1304996	Kif1a	kinesin family member 1A	gene	DOID:0070647	hereditary spastic paraplegia 30A		ISO	RGD:1312759	D	RGD:7240710	20240717	OMIM			
1304996	Kif1a	kinesin family member 1A	gene	DOID:0070647	hereditary spastic paraplegia 30A		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 30A, autosomal dominant	PMID:16199547|PMID:17576681|PMID:21376300|PMID:21820098|PMID:22258533|PMID:25265257|PMID:25533962|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26994895|PMID:27034427|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28927378|PMID:28970574|PMID:29915382|PMID:30144970|PMID:30385166|PMID:30564185|PMID:30582020|PMID:31069529|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32343762|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34015165|PMID:34356170|PMID:34445196|PMID:34469436|PMID:34487232|PMID:34782662|PMID:35917346|PMID:36247768|PMID:36284339|PMID:36305856|PMID:37251230|PMID:38785164|PMID:39076207|PMID:41560358|PMID:9536098
1304996	Kif1a	kinesin family member 1A	gene	DOID:0080016	spina bifida		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal dysraphism	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:0080539	PEHO syndrome		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PEHO syndrome	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165
1304996	Kif1a	kinesin family member 1A	gene	DOID:0080917	sporadic amyotrophic lateral sclerosis		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sporadic amyotrophic lateral sclerosis	PMID:25741868
1304996	Kif1a	kinesin family member 1A	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:1312759	D	RGD:12911230|PMID:26451909	20170710	RGD			
1304996	Kif1a	kinesin family member 1A	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1312759	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26467025|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165
1304996	Kif1a	kinesin family member 1A	gene	DOID:0110781	hereditary spastic paraplegia 30		ISO	RGD:1312759	D	RGD:12911224|PMID:22258533	20170710	RGD		DNA:missense mutations: :p.A255V, p.R350G (human)	
1304996	Kif1a	kinesin family member 1A	gene	DOID:0110781	hereditary spastic paraplegia 30		ISO	RGD:1312759	D	RGD:12911228|PMID:21487076	20170710	RGD		DNA:missense mutation: :p.A255V (human)	
1304996	Kif1a	kinesin family member 1A	gene	DOID:0110781	hereditary spastic paraplegia 30		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 30	PMID:16199547|PMID:17576681|PMID:21376300|PMID:21487076|PMID:21820098|PMID:22258533|PMID:25140959|PMID:25265257|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26752160|PMID:26994895|PMID:27034427|PMID:27146152|PMID:27165006|PMID:27956632|PMID:28106320|PMID:28333917|PMID:28362824|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28927378|PMID:28970574|PMID:29589274|PMID:29915382|PMID:30144970|PMID:30385166|PMID:30564185|PMID:30582020|PMID:30778698|PMID:31069529|PMID:31227335|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32174959|PMID:32343762|PMID:32631363|PMID:32652677|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34015165|PMID:34234304|PMID:34354735|PMID:34356170|PMID:34445196|PMID:34469436|PMID:34487232|PMID:34782662|PMID:35132656|PMID:35917346|PMID:36155026|PMID:36247768|PMID:36284339|PMID:36305856|PMID:37251230|PMID:37541188|PMID:37712079|PMID:37849306|PMID:38105687|PMID:38703036|PMID:38785164|PMID:39076207|PMID:41560358|PMID:9536098
1304996	Kif1a	kinesin family member 1A	gene	DOID:0110781	hereditary spastic paraplegia 30		ISS	RGD:1312760	D	RGD:13592920	20230718	MouseDO		OMIM:610357	
1304996	Kif1a	kinesin family member 1A	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868|PMID:28492532|PMID:31488895|PMID:31796088
1304996	Kif1a	kinesin family member 1A	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:10376	amblyopia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:10485	esophageal atresia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aganglionic megacolon	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304996	Kif1a	kinesin family member 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25326635|PMID:25533962|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26467025|PMID:26486474|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:31796088|PMID:31805580|PMID:32096284|PMID:32737135|PMID:33880452|PMID:34015165
1304996	Kif1a	kinesin family member 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25533962|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26354034|PMID:26486474|PMID:26994895|PMID:27146152|PMID:28333917|PMID:28492532|PMID:28554332|PMID:29915382|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32096284|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34015165|PMID:39730866
1304996	Kif1a	kinesin family member 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25265257|PMID:25533962|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:26994895|PMID:28492532|PMID:28554332|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32096284|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34015165
1304996	Kif1a	kinesin family member 1A	gene	DOID:10629	microphthalmia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:10892	hypospadias		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:10907	microcephaly		ISO	RGD:1312759	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25265257|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26467025|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:31796088|PMID:32096284|PMID:32737135|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26467025|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:11044	gastroschisis		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroschisis	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:11383	cryptorchidism		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:11720	distal myopathy		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:25741868
1304996	Kif1a	kinesin family member 1A	gene	DOID:11836	clubfoot		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:12143	neurogenic bladder		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452
1304996	Kif1a	kinesin family member 1A	gene	DOID:12270	coloboma		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:12849	autistic disorder		ISO	RGD:1312759	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30559488
1304996	Kif1a	kinesin family member 1A	gene	DOID:12849	autistic disorder		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:12859	choreatic disease		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:1324	lung cancer		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304996	Kif1a	kinesin family member 1A	gene	DOID:13580	cholestasis		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:1389	polyneuropathy		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor polyneuropathy	PMID:21820098|PMID:25741868|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1312759	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868|PMID:28492532|PMID:28834584|PMID:31455732|PMID:31488895|PMID:31813911|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34356170|PMID:34469436|PMID:34487232|PMID:38785164
1304996	Kif1a	kinesin family member 1A	gene	DOID:1826	epilepsy		ISO	RGD:1312759	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
1304996	Kif1a	kinesin family member 1A	gene	DOID:1826	epilepsy		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:1891	optic nerve disease		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:1923	disorder of sexual development		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:1969	cerebral palsy		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532|PMID:31455732|PMID:31488895|PMID:32737135
1304996	Kif1a	kinesin family member 1A	gene	DOID:2234	focal epilepsy		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452
1304996	Kif1a	kinesin family member 1A	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:2394	ovarian cancer		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1304996	Kif1a	kinesin family member 1A	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1312759	D	RGD:12911231|PMID:28362824	20170710	RGD		DNA:missense mutations: :p.V8M, p.I27T (human)	
1304996	Kif1a	kinesin family member 1A	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1312759	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:31488895|PMID:32096284|PMID:32860008
1304996	Kif1a	kinesin family member 1A	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1312759	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:31488895|PMID:31796088|PMID:32096284|PMID:32860008|PMID:33880452
1304996	Kif1a	kinesin family member 1A	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1312759	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:17576681|PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:29691679|PMID:31488895|PMID:31796088|PMID:32096284|PMID:32860008|PMID:33880452|PMID:9536098
1304996	Kif1a	kinesin family member 1A	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1312759	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:17576681|PMID:21376300|PMID:22258533|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28927378|PMID:28970574|PMID:29159194|PMID:29590070|PMID:29691679|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:32096284|PMID:32343762|PMID:32737135|PMID:32860008|PMID:33880452|PMID:39825153|PMID:9536098
1304996	Kif1a	kinesin family member 1A	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17576681|PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28927378|PMID:29159194|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32096284|PMID:32343762|PMID:32737135|PMID:32935419|PMID:33880452|PMID:39076207|PMID:9536098
1304996	Kif1a	kinesin family member 1A	gene	DOID:2725	capillary hemangioma		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:2841	asthma		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
1304996	Kif1a	kinesin family member 1A	gene	DOID:3070	high grade glioma		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1304996	Kif1a	kinesin family member 1A	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1312759	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:21820098|PMID:25741868|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:480	movement disease		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1312759	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1304996	Kif1a	kinesin family member 1A	gene	DOID:539	ophthalmoplegia		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ophthalmoparesis	PMID:25741868|PMID:26467025|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:540	strabismus		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:543	dystonia		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: Limb dystonia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:31488895|PMID:31796088|PMID:33880452|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:5723	optic atrophy		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452
1304996	Kif1a	kinesin family member 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304996	Kif1a	kinesin family member 1A	gene	DOID:607	paraplegia		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:17576681|PMID:21820098|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34782662|PMID:34983064|PMID:9536098
1304996	Kif1a	kinesin family member 1A	gene	DOID:630	genetic disease		ISO	RGD:1312759	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:18414213|PMID:21376300|PMID:22258533|PMID:25209998|PMID:25265257|PMID:25356899|PMID:25533962|PMID:25741868|PMID:25975756|PMID:26125038|PMID:26350204|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27034427|PMID:27146152|PMID:27681307|PMID:27956632|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28927378|PMID:28970574|PMID:29589274|PMID:29590070|PMID:29691679|PMID:29908077|PMID:29915382|PMID:29970176|PMID:30564185|PMID:31455732|PMID:31488895|PMID:31628766|PMID:31700678|PMID:31734026|PMID:31805580|PMID:32096284|PMID:32343762|PMID:32737135|PMID:32860008|PMID:33880452|PMID:39076207|PMID:39825153|PMID:9536098
1304996	Kif1a	kinesin family member 1A	gene	DOID:630	genetic disease		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:21376300|PMID:22258533|PMID:25209998|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27124789|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28834584|PMID:28970574|PMID:29589274|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:31813911|PMID:32343762|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33717719|PMID:33880452|PMID:34015165|PMID:34356170|PMID:34469436|PMID:34487232|PMID:36284339|PMID:38539105|PMID:38785164|PMID:39076207|PMID:9536098
1304996	Kif1a	kinesin family member 1A	gene	DOID:630	genetic disease		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:21376300|PMID:22258533|PMID:25209998|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27124789|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28834584|PMID:28927378|PMID:28970574|PMID:29589274|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:31813911|PMID:32343762|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33717719|PMID:33880452|PMID:34015165|PMID:34356170|PMID:34469436|PMID:34487232|PMID:36284339|PMID:38539105|PMID:38785164|PMID:39076207|PMID:9536098
1304996	Kif1a	kinesin family member 1A	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:674	cleft palate		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the mitochondrion	PMID:25741868|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:7319	axonal neuropathy		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:21376300|PMID:25253658|PMID:25265257|PMID:25326635|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26486474|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:32096284|PMID:32737135|PMID:34782662
1304996	Kif1a	kinesin family member 1A	gene	DOID:7319	axonal neuropathy		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Motor axonal neuropathy | ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:25265257|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:31455732|PMID:31488895|PMID:32096284|PMID:32737135|PMID:34782662
1304996	Kif1a	kinesin family member 1A	gene	DOID:767	muscular atrophy		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:21820098|PMID:25741868|PMID:26467025|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:83	cataract		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:870	neuropathy		ISO	RGD:1312759	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:21820098|PMID:25741868|PMID:26467025|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:8927	learning disability		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:28492532|PMID:31628766
1304996	Kif1a	kinesin family member 1A	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9000343	Vision Disorders		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:26354034|PMID:26467025|PMID:27034427|PMID:28492532|PMID:28708303|PMID:29915382|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9000495	Tremor		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Resting tremor	PMID:25741868|PMID:26467025|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9001897	MOTOR NEURON ATROPHY		ISO	RGD:1312759	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Motor neuron atrophy	PMID:21820098|PMID:25741868|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:26354034
1304996	Kif1a	kinesin family member 1A	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
1304996	Kif1a	kinesin family member 1A	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165
1304996	Kif1a	kinesin family member 1A	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26486474|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34015165
1304996	Kif1a	kinesin family member 1A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34015165
1304996	Kif1a	kinesin family member 1A	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452
1304996	Kif1a	kinesin family member 1A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1304996	Kif1a	kinesin family member 1A	gene	DOID:9004866	Ataxia		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28492532|PMID:28554332|PMID:30564185|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34354735|PMID:35917346|PMID:36247768|PMID:36305856|PMID:37251230
1304996	Kif1a	kinesin family member 1A	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1312759	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868|PMID:28492532|PMID:31488895
1304996	Kif1a	kinesin family member 1A	gene	DOID:9005329	Preaxial Polydactyly		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preaxial polydactyly	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:21820098|PMID:25265257|PMID:25741868|PMID:25975756|PMID:26467025|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25209998|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27034427|PMID:28492532|PMID:28708303|PMID:29589274|PMID:29915382|PMID:31488895|PMID:31796088|PMID:31805580|PMID:33880452|PMID:34015165|PMID:34354735|PMID:39825153
1304996	Kif1a	kinesin family member 1A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312759	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25209998|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27034427|PMID:28492532|PMID:28708303|PMID:29589274|PMID:29915382|PMID:31488895|PMID:31796088|PMID:31805580|PMID:33880452|PMID:34015165|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25209998|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27034427|PMID:28492532|PMID:28554332|PMID:28708303|PMID:29589274|PMID:29915382|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34015165|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9005640	Complete Atrioventricular Septal Defect		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complete atrioventricular canal	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:11059542|PMID:23776493	20160415	RGD		mRNA:increased expression:hippocampus	
1304996	Kif1a	kinesin family member 1A	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1312759	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532|PMID:28834584|PMID:31455732|PMID:31488895|PMID:31813911|PMID:32737135|PMID:32746806|PMID:32935419|PMID:33880452|PMID:34356170|PMID:34469436|PMID:34487232|PMID:38785164
1304996	Kif1a	kinesin family member 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304996	Kif1a	kinesin family member 1A	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: walking difficulty	PMID:25741868|PMID:28492532|PMID:33057194
1304996	Kif1a	kinesin family member 1A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25265257|PMID:25741868|PMID:25852444|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26994895|PMID:28492532|PMID:30144970|PMID:30385166|PMID:30564185|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31796088|PMID:32096284|PMID:32737135|PMID:32746806|PMID:33880452|PMID:34354735|PMID:34782662|PMID:35917346|PMID:36247768|PMID:36305856|PMID:37251230
1304996	Kif1a	kinesin family member 1A	gene	DOID:9007661	Dwarfism		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26486474|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31796088|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34015165|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312759	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30559488
1304996	Kif1a	kinesin family member 1A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25209998|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:27034427|PMID:28492532|PMID:28554332|PMID:28708303|PMID:29589274|PMID:29915382|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9008582	Developmental Disease		ISO	RGD:1312759	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1304996	Kif1a	kinesin family member 1A	gene	DOID:9008675	Dyskinesias		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:25741868|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:9008739	Athetosis		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Athetosis	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165
1304996	Kif1a	kinesin family member 1A	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452|PMID:34015165
1304996	Kif1a	kinesin family member 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1304996	Kif1a	kinesin family member 1A	gene	DOID:913	atrophic muscular disease		ISO	RGD:1312759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Distal lower limb amyotrophy	PMID:25741868|PMID:26467025|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1312759	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: spinocerebellar disease	PMID:25741868|PMID:26467025|PMID:28492532
1304996	Kif1a	kinesin family member 1A	gene	DOID:9351	diabetes mellitus		ISO	RGD:1312759	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23776493
1304996	Kif1a	kinesin family member 1A	gene	DOID:9351	diabetes mellitus		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1312759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34354735
1304996	Kif1a	kinesin family member 1A	gene	DOID:9834	hyperopia		ISO	RGD:1312759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:31455732|PMID:31488895|PMID:31700678|PMID:31805580|PMID:32737135|PMID:32935419|PMID:33880452
1304997	Sec61b	SEC61 translocon subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1304997	Sec61b	SEC61 translocon subunit beta	gene	DOID:0060207	amyotrophic lateral sclerosis type 16		ISO	RGD:1312761	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16	
1304997	Sec61b	SEC61 translocon subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1312761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1304997	Sec61b	SEC61 translocon subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1312761	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1304997	Sec61b	SEC61 translocon subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304999	Fam161a	FAM161 centrosomal protein A	gene	DOID:0110365	retinitis pigmentosa 28		ISO	RGD:2293814	D	RGD:7240710	20170726	OMIM			
1304999	Fam161a	FAM161 centrosomal protein A	gene	DOID:0110365	retinitis pigmentosa 28		ISO	RGD:2293814	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FAM161A-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 28 | ClinVar Annotator: match by term: Retinitis pigmentosa 28 | ClinVar Annotator: match by term: Retinitis pigmentosa type 28	PMID:16199547|PMID:17576681|PMID:20705278|PMID:20705279|PMID:22581970|PMID:23591405|PMID:24520187|PMID:24651477|PMID:25097241|PMID:25525159|PMID:25741868|PMID:26261414|PMID:26574802|PMID:27208204|PMID:28005406|PMID:28492532|PMID:28559085|PMID:28945494|PMID:30543658|PMID:30718709|PMID:31236346|PMID:31370859|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32531858|PMID:34906470|PMID:36819107|PMID:36964972|PMID:37322672|PMID:40900079|PMID:9536098
1304999	Fam161a	FAM161 centrosomal protein A	gene	DOID:0110365	retinitis pigmentosa 28		ISS	RGD:1312765	D	RGD:13592920	20230718	MouseDO		OMIM:606068	
1304999	Fam161a	FAM161 centrosomal protein A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:2293814	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10507729|PMID:20705278|PMID:20705279|PMID:23167750|PMID:23591405|PMID:24520187|PMID:24651477|PMID:25007332|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26113502|PMID:26355662|PMID:26574802|PMID:28041643|PMID:28492532|PMID:28945494|PMID:30718709|PMID:32531858|PMID:32581362|PMID:34906470|PMID:36909829
1304999	Fam161a	FAM161 centrosomal protein A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:2293814	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10507729|PMID:20705278|PMID:20705279|PMID:23167750|PMID:23591405|PMID:24520187|PMID:24651477|PMID:25007332|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26113502|PMID:26355662|PMID:26574802|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28945494|PMID:30718709|PMID:31108397|PMID:31345219|PMID:31589614|PMID:31814694|PMID:31964843|PMID:31980526|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32938956|PMID:33576794|PMID:33749171|PMID:34426522|PMID:34758253|PMID:34906470|PMID:35456422|PMID:36819107|PMID:36909829
1304999	Fam161a	FAM161 centrosomal protein A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:2293814	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:20705278|PMID:20705279|PMID:24651477|PMID:25525159|PMID:25741868|PMID:26261414|PMID:28041643|PMID:28492532|PMID:28945494|PMID:30543658|PMID:30718709|PMID:31108397|PMID:31456290|PMID:31589614|PMID:31814694|PMID:31964843|PMID:31980526|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32938956|PMID:34758253|PMID:34906470|PMID:36909829|PMID:38219857
1304999	Fam161a	FAM161 centrosomal protein A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:2293814	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:20705278|PMID:20705279|PMID:24651477|PMID:25525159|PMID:25741868|PMID:26261414|PMID:28041643|PMID:28492532|PMID:28945494|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32531858|PMID:32581362|PMID:34906470|PMID:36909829|PMID:38219857
1304999	Fam161a	FAM161 centrosomal protein A	gene	DOID:1115	sarcoma		ISO	RGD:2293814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1304999	Fam161a	FAM161 centrosomal protein A	gene	DOID:1324	lung cancer		ISO	RGD:2293814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1304999	Fam161a	FAM161 centrosomal protein A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2293814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1304999	Fam161a	FAM161 centrosomal protein A	gene	DOID:630	genetic disease		ISO	RGD:2293814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1304999	Fam161a	FAM161 centrosomal protein A	gene	DOID:8501	fundus dystrophy		ISO	RGD:2293814	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:20705278|PMID:20705279|PMID:24651477|PMID:25525159|PMID:25741868|PMID:26261414|PMID:28492532|PMID:28945494|PMID:30543658|PMID:30718709|PMID:30902645|PMID:31108397|PMID:31456290|PMID:31589614|PMID:31814694|PMID:31964843|PMID:31980526|PMID:32483926|PMID:32531858|PMID:32938956|PMID:34758253|PMID:34906470|PMID:39462066
1304999	Fam161a	FAM161 centrosomal protein A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2293814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1304999	Fam161a	FAM161 centrosomal protein A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2293814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305000	Cldn19	claudin 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1305000	Cldn19	claudin 19	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1312766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1305000	Cldn19	claudin 19	gene	DOID:0060881	renal hypomagnesemia 5 with ocular involvement		ISO	RGD:1312766	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1305000	Cldn19	claudin 19	gene	DOID:0060881	renal hypomagnesemia 5 with ocular involvement		ISO	RGD:1312766	D	RGD:7240710	20130221	OMIM			
1305000	Cldn19	claudin 19	gene	DOID:0060881	renal hypomagnesemia 5 with ocular involvement		ISO	RGD:1312766	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CLDN19-related condition | ClinVar Annotator: match by term: HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT | ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement | ClinVar Annotator: match by term: MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement | ClinVar Annotator: match by term: renal hypomagnesemia 5 with ocular involvement	PMID:17033971|PMID:18188451|PMID:22422540|PMID:23301036|PMID:25366522|PMID:25410674|PMID:25741868|PMID:27530400|PMID:28492532|PMID:31479589|PMID:33532864|PMID:34805638
1305000	Cldn19	claudin 19	gene	DOID:1115	sarcoma		ISO	RGD:1312766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1305000	Cldn19	claudin 19	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1312766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:25741868|PMID:27530400|PMID:28492532|PMID:28893421|PMID:33025205|PMID:34805638
1305000	Cldn19	claudin 19	gene	DOID:1324	lung cancer		ISO	RGD:1312766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305000	Cldn19	claudin 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1305000	Cldn19	claudin 19	gene	DOID:630	genetic disease		ISO	RGD:1312766	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305000	Cldn19	claudin 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305001	Rrn3	RNA polymerase I transcription factor RRN3	gene	DOID:14330	Parkinson's disease		ISS	RGD:1553236	D	RGD:13592920	20180518	MouseDO		OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251	
1305002	Ccng2	cyclin G2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305002	Ccng2	cyclin G2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305002	Ccng2	cyclin G2	gene	DOID:1115	sarcoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305002	Ccng2	cyclin G2	gene	DOID:11934	head and neck cancer		ISO	RGD:1312769	D	RGD:151361200|PMID:27982046	20220228	RGD		mRNA:decreased expression:head and neck (human)	
1305002	Ccng2	cyclin G2	gene	DOID:1909	melanoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305002	Ccng2	cyclin G2	gene	DOID:1993	rectum cancer		ISO	RGD:1312769	D	RGD:151361200|PMID:27982046	20220228	RGD		mRNA:decreased expression:colon,rectum (human)	
1305002	Ccng2	cyclin G2	gene	DOID:219	colon cancer		ISO	RGD:1312769	D	RGD:151361200|PMID:27982046	20220228	RGD		mRNA:decreased expression:colon,rectum (human)	
1305002	Ccng2	cyclin G2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305002	Ccng2	cyclin G2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305002	Ccng2	cyclin G2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312769	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305002	Ccng2	cyclin G2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305002	Ccng2	cyclin G2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305002	Ccng2	cyclin G2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312770	D	RGD:151361200|PMID:27982046	20220228	RGD			
1305002	Ccng2	cyclin G2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1312770	D	RGD:151361200|PMID:27982046	20220228	RGD			
1305002	Ccng2	cyclin G2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305003	Pknox1	PBX/knotted 1 homeobox 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305003	Pknox1	PBX/knotted 1 homeobox 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305003	Pknox1	PBX/knotted 1 homeobox 1	gene	DOID:1115	sarcoma		ISO	RGD:1312771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305003	Pknox1	PBX/knotted 1 homeobox 1	gene	DOID:1324	lung cancer		ISO	RGD:1312771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305003	Pknox1	PBX/knotted 1 homeobox 1	gene	DOID:1909	melanoma		ISO	RGD:1312771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305003	Pknox1	PBX/knotted 1 homeobox 1	gene	DOID:3275	thymoma		ISO	RGD:1312771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305003	Pknox1	PBX/knotted 1 homeobox 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305003	Pknox1	PBX/knotted 1 homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305003	Pknox1	PBX/knotted 1 homeobox 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305003	Pknox1	PBX/knotted 1 homeobox 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305004	Sfswap	splicing factor SWAP	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305004	Sfswap	splicing factor SWAP	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305004	Sfswap	splicing factor SWAP	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312773	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24781735
1305004	Sfswap	splicing factor SWAP	gene	DOID:10534	stomach cancer		ISO	RGD:1312773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305004	Sfswap	splicing factor SWAP	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305004	Sfswap	splicing factor SWAP	gene	DOID:1324	lung cancer		ISO	RGD:1312773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305004	Sfswap	splicing factor SWAP	gene	DOID:4362	cervical cancer		ISO	RGD:1312773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305004	Sfswap	splicing factor SWAP	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305004	Sfswap	splicing factor SWAP	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305004	Sfswap	splicing factor SWAP	gene	DOID:6039	uveal melanoma		ISO	RGD:1312773	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305004	Sfswap	splicing factor SWAP	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305004	Sfswap	splicing factor SWAP	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305004	Sfswap	splicing factor SWAP	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305005	Lamtor5	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305005	Lamtor5	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	gene	DOID:10603	glucose intolerance		ISO	RGD:1312775	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: therapeutic	PMID:29259128
1305005	Lamtor5	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305005	Lamtor5	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305005	Lamtor5	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1312775	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26229107
1305005	Lamtor5	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305006	Gnl2	G protein nucleolar 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305006	Gnl2	G protein nucleolar 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305006	Gnl2	G protein nucleolar 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305006	Gnl2	G protein nucleolar 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305006	Gnl2	G protein nucleolar 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305006	Gnl2	G protein nucleolar 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343978	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305006	Gnl2	G protein nucleolar 2	gene	DOID:540	strabismus		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1305006	Gnl2	G protein nucleolar 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305006	Gnl2	G protein nucleolar 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305006	Gnl2	G protein nucleolar 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305006	Gnl2	G protein nucleolar 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305007	Ogfod3	2-oxoglutarate and iron-dependent oxygenase domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:0080128	mitochondrial DNA depletion syndrome 9		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9	PMID:28492532
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:11830	myopia		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1312779	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16823967
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:1596	depressive disorder		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:1826	epilepsy		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:1909	melanoma		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:28492532|PMID:9536098
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:2030	anxiety disorder		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:289	endometriosis		ISO	RGD:1312779	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23284138
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1312779	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1312779	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:9008023	Memory Disorders		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:9834	hyperopia		ISO	RGD:1312779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1305008	Suclg2	succinate-CoA ligase GDP-forming subunit beta	gene	DOID:9970	obesity		ISO	RGD:1312779	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
1305009	Dnajc9	DnaJ heat shock protein family (Hsp40) member C9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305009	Dnajc9	DnaJ heat shock protein family (Hsp40) member C9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305009	Dnajc9	DnaJ heat shock protein family (Hsp40) member C9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305009	Dnajc9	DnaJ heat shock protein family (Hsp40) member C9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305012	Irak1bp1	interleukin-1 receptor-associated kinase 1 binding protein 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1312787	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097067
1305012	Irak1bp1	interleukin-1 receptor-associated kinase 1 binding protein 1	gene	DOID:9000949	DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES		ISO	RGD:15151227|RGD:155909985|RGD:155917711|RGD:155941657|RGD:155946743|RGD:155994000|RGD:156001386|RGD:156086774|RGD:156086800|RGD:156113993|RGD:156168282|RGD:156199250|RGD:156199284|RGD:156206084|RGD:156218440|RGD:156223036|RGD:156223204|RGD:156256772|RGD:156268314|RGD:156279616|RGD:156285069|RGD:156310091|RGD:156311384|RGD:156313510|RGD:156356438|RGD:156374182|RGD:156390259|RGD:156398887|RGD:156412232|RGD:156434275|RGD:401920707|RGD:402468189|RGD:402487821|RGD:402506967|RGD:404986306|RGD:405062539|RGD:405122933|RGD:405123442|RGD:405123801|RGD:405219665|RGD:405237749|RGD:405246767|RGD:405254476|RGD:408368305|RGD:408368324|RGD:408368355|RGD:408368502|RGD:408368632|RGD:408368865|RGD:408369028|RGD:408378350	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related disorder	PMID:28492532
1305013	Tmem143	transmembrane protein 143	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305013	Tmem143	transmembrane protein 143	gene	DOID:10534	stomach cancer		ISO	RGD:1602477	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305013	Tmem143	transmembrane protein 143	gene	DOID:3275	thymoma		ISO	RGD:1602477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305013	Tmem143	transmembrane protein 143	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305013	Tmem143	transmembrane protein 143	gene	DOID:5041	esophageal cancer		ISO	RGD:1602477	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305013	Tmem143	transmembrane protein 143	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305013	Tmem143	transmembrane protein 143	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305014	C1h10orf88	similar to human chromosome 10 open reading frame 88	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305014	C1h10orf88	similar to human chromosome 10 open reading frame 88	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305014	C1h10orf88	similar to human chromosome 10 open reading frame 88	gene	DOID:1909	melanoma		ISO	RGD:1312790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305014	C1h10orf88	similar to human chromosome 10 open reading frame 88	gene	DOID:5041	esophageal cancer		ISO	RGD:1312790	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305014	C1h10orf88	similar to human chromosome 10 open reading frame 88	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305014	C1h10orf88	similar to human chromosome 10 open reading frame 88	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305014	C1h10orf88	similar to human chromosome 10 open reading frame 88	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305015	Pabpc4	poly(A) binding protein, cytoplasmic 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305015	Pabpc4	poly(A) binding protein, cytoplasmic 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305015	Pabpc4	poly(A) binding protein, cytoplasmic 4	gene	DOID:3275	thymoma		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305015	Pabpc4	poly(A) binding protein, cytoplasmic 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1312792	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1305015	Pabpc4	poly(A) binding protein, cytoplasmic 4	gene	DOID:4362	cervical cancer		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305015	Pabpc4	poly(A) binding protein, cytoplasmic 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305015	Pabpc4	poly(A) binding protein, cytoplasmic 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305015	Pabpc4	poly(A) binding protein, cytoplasmic 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305015	Pabpc4	poly(A) binding protein, cytoplasmic 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305015	Pabpc4	poly(A) binding protein, cytoplasmic 4	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1312792	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1305015	Pabpc4	poly(A) binding protein, cytoplasmic 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305015	Pabpc4	poly(A) binding protein, cytoplasmic 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305016	Pard6g	par-6 family cell polarity regulator gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305017	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305017	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305017	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:1324	lung cancer		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305017	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:1909	melanoma		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305017	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305017	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305017	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305017	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305017	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:9009263	Congenital disorder of glycosylation, type 1DD		ISO	RGD:1344855	D	RGD:7240710	20241218	OMIM			
1305017	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:9009263	Congenital disorder of glycosylation, type 1DD		ISO	RGD:1344855	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1DD	
1305017	Dhrsx	dehydrogenase/reductase X-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305018	Wnt9a	Wnt family member 9A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305018	Wnt9a	Wnt family member 9A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305018	Wnt9a	Wnt family member 9A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305018	Wnt9a	Wnt family member 9A	gene	DOID:1612	breast cancer		ISO	RGD:1312797	D	RGD:2299944|PMID:11713592	20080821	RGD			
1305018	Wnt9a	Wnt family member 9A	gene	DOID:1793	pancreatic cancer		ISO	RGD:1312797	D	RGD:5490966|PMID:18772397	20140724	RGD		DNA:mutations:exon	
1305018	Wnt9a	Wnt family member 9A	gene	DOID:3275	thymoma		ISO	RGD:1312797	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305018	Wnt9a	Wnt family member 9A	gene	DOID:4362	cervical cancer		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305018	Wnt9a	Wnt family member 9A	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1312797	D	RGD:152998978|PMID:31687280	20220714	RGD		mRNA:altered expression:liver (human)	
1305018	Wnt9a	Wnt family member 9A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305018	Wnt9a	Wnt family member 9A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305019	Cerk	ceramide kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305019	Cerk	ceramide kinase	gene	DOID:1115	sarcoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305019	Cerk	ceramide kinase	gene	DOID:1324	lung cancer		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305019	Cerk	ceramide kinase	gene	DOID:1909	melanoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305019	Cerk	ceramide kinase	gene	DOID:3275	thymoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305019	Cerk	ceramide kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305019	Cerk	ceramide kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305019	Cerk	ceramide kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305019	Cerk	ceramide kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1312799	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305019	Cerk	ceramide kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305019	Cerk	ceramide kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305019	Cerk	ceramide kinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312799	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305019	Cerk	ceramide kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305019	Cerk	ceramide kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305019	Cerk	ceramide kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305020	Phf20	PHD finger protein 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305020	Phf20	PHD finger protein 20	gene	DOID:10534	stomach cancer		ISO	RGD:1605683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305020	Phf20	PHD finger protein 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305020	Phf20	PHD finger protein 20	gene	DOID:3275	thymoma		ISO	RGD:1605683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305020	Phf20	PHD finger protein 20	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305020	Phf20	PHD finger protein 20	gene	DOID:4362	cervical cancer		ISO	RGD:1605683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305020	Phf20	PHD finger protein 20	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305020	Phf20	PHD finger protein 20	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605683	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305020	Phf20	PHD finger protein 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305020	Phf20	PHD finger protein 20	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305020	Phf20	PHD finger protein 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305020	Phf20	PHD finger protein 20	gene	DOID:9007661	Dwarfism		ISO	RGD:1605683	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1305020	Phf20	PHD finger protein 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305021	Ppfia2	PPFI scaffold protein A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305021	Ppfia2	PPFI scaffold protein A2	gene	DOID:10534	stomach cancer		ISO	RGD:1312803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305021	Ppfia2	PPFI scaffold protein A2	gene	DOID:1115	sarcoma		ISO	RGD:1312803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305021	Ppfia2	PPFI scaffold protein A2	gene	DOID:1909	melanoma		ISO	RGD:1312803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305021	Ppfia2	PPFI scaffold protein A2	gene	DOID:3275	thymoma		ISO	RGD:1312803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305021	Ppfia2	PPFI scaffold protein A2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305021	Ppfia2	PPFI scaffold protein A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305021	Ppfia2	PPFI scaffold protein A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305021	Ppfia2	PPFI scaffold protein A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305021	Ppfia2	PPFI scaffold protein A2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305022	Heyl	hes-related family bHLH transcription factor with YRPW motif-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305022	Heyl	hes-related family bHLH transcription factor with YRPW motif-like	gene	DOID:4362	cervical cancer		ISO	RGD:1312805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305022	Heyl	hes-related family bHLH transcription factor with YRPW motif-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305022	Heyl	hes-related family bHLH transcription factor with YRPW motif-like	gene	DOID:9006182	Carotid Artery Injuries		IEP		D	RGD:625426|PMID:11971902	20150324	RGD			
1305022	Heyl	hes-related family bHLH transcription factor with YRPW motif-like	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1312805	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21036696
1305023	Degs2	delta(4)-desaturase, sphingolipid 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305023	Degs2	delta(4)-desaturase, sphingolipid 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305025	Zfp575	zinc finger protein 575	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305025	Zfp575	zinc finger protein 575	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305025	Zfp575	zinc finger protein 575	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305026	Tnks2	tankyrase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305026	Tnks2	tankyrase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305026	Tnks2	tankyrase 2	gene	DOID:1324	lung cancer		ISO	RGD:1312811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305026	Tnks2	tankyrase 2	gene	DOID:1909	melanoma		ISO	RGD:1312811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305026	Tnks2	tankyrase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305026	Tnks2	tankyrase 2	gene	DOID:3275	thymoma		ISO	RGD:1312811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305026	Tnks2	tankyrase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305026	Tnks2	tankyrase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305026	Tnks2	tankyrase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312811	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305026	Tnks2	tankyrase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305026	Tnks2	tankyrase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305026	Tnks2	tankyrase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305026	Tnks2	tankyrase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305026	Tnks2	tankyrase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305026	Tnks2	tankyrase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305027	Sfmbt2	Scm-like with four mbt domains 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312812	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305027	Sfmbt2	Scm-like with four mbt domains 2	gene	DOID:1115	sarcoma		ISO	RGD:1312812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305027	Sfmbt2	Scm-like with four mbt domains 2	gene	DOID:1324	lung cancer		ISO	RGD:1312812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305027	Sfmbt2	Scm-like with four mbt domains 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305027	Sfmbt2	Scm-like with four mbt domains 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312812	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305027	Sfmbt2	Scm-like with four mbt domains 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305027	Sfmbt2	Scm-like with four mbt domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305027	Sfmbt2	Scm-like with four mbt domains 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:0050842	oculogyric crisis		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oculogyric crisis	PMID:25741868|PMID:37433783
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:0060320	inguinal hernia		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:0060521	cow milk allergy		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cow milk allergy	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:25741868|PMID:37314226|PMID:37433783
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:1115	sarcoma		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:1143	exotropia		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:2340	craniosynostosis		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312813	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:9000972	Fever		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:9001510	Funnel Chest		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:9002532	Neonatal Hyperbilirubinemia		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal hyperbilirubinemia	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:9003132	Sialorrhea		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EZH1-neurodevelopmental syndrome	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:37433783
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:37433783
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:9007661	Dwarfism		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:9008675	Dyskinesias		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:9008811	Tachypnea		ISO	RGD:1312813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868
1305028	Ezh1	enhancer of zeste 1 polycomb repressive complex 2 subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:10316	pneumoconiosis		ISO	RGD:1312815	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1312815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:2841	asthma		ISO	RGD:1312816	D	RGD:5128496|PMID:16081811	20110304	RGD			
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1312816	D	RGD:5128486|PMID:15749890	20110304	RGD			
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:3275	thymoma		ISO	RGD:1312815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:418	systemic scleroderma		ISO	RGD:1312815	D	RGD:5128477|PMID:20705635	20110304	RGD		mRNA:increased expression:skin	
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1312815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:4483	rhinitis		ISO	RGD:1312816	D	RGD:5128480|PMID:19354069	20110304	RGD			
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1312815	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:9009404	Immunodeficiency 134 (Epstein-Barr virus-specific)		ISO	RGD:1312815	D	RGD:7240710	20251126	OMIM			
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:9009404	Immunodeficiency 134 (Epstein-Barr virus-specific)		ISO	RGD:1312815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 134 (EPSTEIN-BARR VIRUS-SPECIFIC)	
1305029	Il27ra	interleukin 27 receptor subunit alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:0060058	lymphoma		ISO	RGD:1312817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1312817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:1059	intellectual disability		ISO	RGD:1312817	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:1059	intellectual disability		ISO	RGD:1312817	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:36457943
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:1324	lung cancer		ISO	RGD:1312817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1312817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1312817	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:630	genetic disease		ISO	RGD:1312817	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:9006408	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES		ISO	RGD:1312817	D	RGD:7240710	20240717	OMIM			
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:9006408	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES		ISO	RGD:1312817	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACBD6-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive movement abnormalities	PMID:25741868
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305030	Acbd6	acyl-CoA binding domain containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305031	Vta1	vesicle trafficking 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312819	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305031	Vta1	vesicle trafficking 1	gene	DOID:0060058	lymphoma		ISO	RGD:1312819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305031	Vta1	vesicle trafficking 1	gene	DOID:1115	sarcoma		ISO	RGD:1312819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305031	Vta1	vesicle trafficking 1	gene	DOID:1324	lung cancer		ISO	RGD:1312819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305031	Vta1	vesicle trafficking 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305031	Vta1	vesicle trafficking 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305031	Vta1	vesicle trafficking 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305033	Tmprss4	transmembrane serine protease 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305033	Tmprss4	transmembrane serine protease 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305033	Tmprss4	transmembrane serine protease 4	gene	DOID:0080600	COVID-19		ISO	RGD:1312821	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:32404436
1305033	Tmprss4	transmembrane serine protease 4	gene	DOID:10534	stomach cancer		ISO	RGD:1312821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305033	Tmprss4	transmembrane serine protease 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305033	Tmprss4	transmembrane serine protease 4	gene	DOID:1324	lung cancer		ISO	RGD:1312821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305033	Tmprss4	transmembrane serine protease 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305033	Tmprss4	transmembrane serine protease 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305033	Tmprss4	transmembrane serine protease 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305033	Tmprss4	transmembrane serine protease 4	gene	DOID:9001488	Human Influenza		ISO	RGD:1312821	D	RGD:11554173	20200331	CTD		CTD Direct Evidence: marker/mechanism	PMID:26889029
1305033	Tmprss4	transmembrane serine protease 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305034	Net1	neuroepithelial cell transforming 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305034	Net1	neuroepithelial cell transforming 1	gene	DOID:0080600	COVID-19		ISO	RGD:1312823	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305034	Net1	neuroepithelial cell transforming 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305034	Net1	neuroepithelial cell transforming 1	gene	DOID:1324	lung cancer		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305034	Net1	neuroepithelial cell transforming 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1312823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1305034	Net1	neuroepithelial cell transforming 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305034	Net1	neuroepithelial cell transforming 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312823	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305034	Net1	neuroepithelial cell transforming 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305034	Net1	neuroepithelial cell transforming 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1305034	Net1	neuroepithelial cell transforming 1	gene	DOID:9005834	Ependymomas		ISO	RGD:1312823	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1305034	Net1	neuroepithelial cell transforming 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305034	Net1	neuroepithelial cell transforming 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305034	Net1	neuroepithelial cell transforming 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312823	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:0060742	methylmalonic acidemia cblA type		ISO	RGD:1312825	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:0060742	methylmalonic acidemia cblA type		ISO	RGD:1312825	D	RGD:7240710	20130221	OMIM			
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:0060742	methylmalonic acidemia cblA type		ISO	RGD:1312825	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, cblA TYPE | ClinVar Annotator: match by term: Methylmalonic acidemia cblA type | ClinVar Annotator: match by term: Methylmalonic aciduria cblA type | ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type	PMID:12438653|PMID:15308131|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16247646|PMID:17576681|PMID:17728257|PMID:17957493|PMID:19375370|PMID:20549364|PMID:21048060|PMID:21114891|PMID:21545677|PMID:22614770|PMID:22661206|PMID:23026888|PMID:23711287|PMID:23716945|PMID:24033266|PMID:24059531|PMID:25525159|PMID:25636100|PMID:25741868|PMID:25748407|PMID:25959030|PMID:26270765|PMID:27858373|PMID:28468868|PMID:28492532|PMID:28497574|PMID:29996803|PMID:30904546|PMID:31139930|PMID:31497484|PMID:31622506|PMID:32034731|PMID:32754920|PMID:33029243|PMID:33453710|PMID:33726816|PMID:34915869|PMID:35618652|PMID:38651393|PMID:39494389|PMID:40762225|PMID:9536098
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:10907	microcephaly		ISO	RGD:1312825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:1324	lung cancer		ISO	RGD:1312825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1312825	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Methylmalonic acidemia	PMID:25741868|PMID:28492532|PMID:28497574|PMID:32754920
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:1909	melanoma		ISO	RGD:1312825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:630	genetic disease		ISO	RGD:1312825	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:83	cataract		ISO	RGD:1312825	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868|PMID:28492532
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1312825	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: hepatomegaly	PMID:15523652|PMID:15781192|PMID:25741868|PMID:27591164|PMID:28492532|PMID:28497574
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:1312825	D	RGD:1600803|PMID:15523652	20070327	RGD		methylmalonic aciduria, OMIM:251100	
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:9006731	Hyperlactatemia		ISO	RGD:1312825	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: hyperlactatemia	PMID:25741868
1305035	Mmaa	metabolism of cobalamin associated A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305036	Ints4	integrator complex subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305036	Ints4	integrator complex subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305036	Ints4	integrator complex subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305036	Ints4	integrator complex subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305036	Ints4	integrator complex subunit 4	gene	DOID:3070	high grade glioma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305036	Ints4	integrator complex subunit 4	gene	DOID:3275	thymoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305036	Ints4	integrator complex subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305036	Ints4	integrator complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305036	Ints4	integrator complex subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305036	Ints4	integrator complex subunit 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1603936	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
1305036	Ints4	integrator complex subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:1115	sarcoma		ISO	RGD:1312828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:1324	lung cancer		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:1909	melanoma		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:3275	thymoma		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312828	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25485837
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305037	Baz2a	bromodomain adjacent to zinc finger domain, 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305038	Plk5	polo-like kinase 5	gene	DOID:1115	sarcoma		ISO	RGD:2302687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305038	Plk5	polo-like kinase 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2302687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305038	Plk5	polo-like kinase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:2302687	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305038	Plk5	polo-like kinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305038	Plk5	polo-like kinase 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2302687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305039	Icam5	intercellular adhesion molecule 5	gene	DOID:0080600	COVID-19		ISO	RGD:1312830	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:35255492
1305039	Icam5	intercellular adhesion molecule 5	gene	DOID:1324	lung cancer		ISO	RGD:1312830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305039	Icam5	intercellular adhesion molecule 5	gene	DOID:1909	melanoma		ISO	RGD:1312830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305039	Icam5	intercellular adhesion molecule 5	gene	DOID:4362	cervical cancer		ISO	RGD:1312830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305039	Icam5	intercellular adhesion molecule 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305039	Icam5	intercellular adhesion molecule 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305039	Icam5	intercellular adhesion molecule 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1312830	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:21278247
1305039	Icam5	intercellular adhesion molecule 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1312830	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
1305039	Icam5	intercellular adhesion molecule 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305040	Six5	SIX homeobox 5	gene	DOID:0111424	branchiootorenal syndrome 2		ISO	RGD:1312832	D	RGD:7240710	20191106	OMIM			
1305040	Six5	SIX homeobox 5	gene	DOID:0111424	branchiootorenal syndrome 2		ISO	RGD:1312832	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRANCHIOOTORENAL SYNDROME 2 | ClinVar Annotator: match by term: Branchiootorenal syndrome 2 | ClinVar Annotator: match by term: SIX5-related condition	PMID:17357085|PMID:24429398|PMID:25741868|PMID:28492532
1305040	Six5	SIX homeobox 5	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:1312832	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1305040	Six5	SIX homeobox 5	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1312832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:27657687
1305041	Gimap6	GTPase, IMAP family member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1603796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305041	Gimap6	GTPase, IMAP family member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305041	Gimap6	GTPase, IMAP family member 6	gene	DOID:1324	lung cancer		ISO	RGD:1603796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305041	Gimap6	GTPase, IMAP family member 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305041	Gimap6	GTPase, IMAP family member 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305041	Gimap6	GTPase, IMAP family member 6	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1603796	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary Immune Deficiency	PMID:25741868
1305041	Gimap6	GTPase, IMAP family member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305042	Snx22	sorting nexin 22	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:11558879|RGD:11635093|RGD:11635149|RGD:11635414|RGD:11635780|RGD:153346244	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	
1305042	Snx22	sorting nexin 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305042	Snx22	sorting nexin 22	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305042	Snx22	sorting nexin 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305043	Clrn3	clarin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305044	Zan	zonadhesin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305044	Zan	zonadhesin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305044	Zan	zonadhesin	gene	DOID:10534	stomach cancer		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305044	Zan	zonadhesin	gene	DOID:1115	sarcoma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305044	Zan	zonadhesin	gene	DOID:1324	lung cancer		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305044	Zan	zonadhesin	gene	DOID:1909	melanoma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305044	Zan	zonadhesin	gene	DOID:3070	high grade glioma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305044	Zan	zonadhesin	gene	DOID:5041	esophageal cancer		ISO	RGD:1312837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305044	Zan	zonadhesin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305044	Zan	zonadhesin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305044	Zan	zonadhesin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305044	Zan	zonadhesin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312837	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305044	Zan	zonadhesin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305045	Emc7	ER membrane protein complex subunit 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305045	Emc7	ER membrane protein complex subunit 7	gene	DOID:1115	sarcoma		ISO	RGD:1312839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305045	Emc7	ER membrane protein complex subunit 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305045	Emc7	ER membrane protein complex subunit 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305045	Emc7	ER membrane protein complex subunit 7	gene	DOID:4362	cervical cancer		ISO	RGD:1312839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305045	Emc7	ER membrane protein complex subunit 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1312839	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305045	Emc7	ER membrane protein complex subunit 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305045	Emc7	ER membrane protein complex subunit 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1312841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1312841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1312841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:1312841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1312841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1312841	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312841	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305046	Stk11ip	serine/threonine kinase 11 interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:0050562	West syndrome		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:0080430	developmental and epileptic encephalopathy 65		ISO	RGD:1312845	D	RGD:7240710	20190315	OMIM			
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:0080430	developmental and epileptic encephalopathy 65		ISO	RGD:1312845	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CYFIP2-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 65	PMID:21107423|PMID:25741868|PMID:25741869|PMID:25741870|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277|PMID:33710394
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1312845	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Severe intellectual disability	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277|PMID:33710394
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:10907	microcephaly		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1312845	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:3275	thymoma		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312845	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:535	sleep disorder		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:543	dystonia		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:585	nephrolithiasis		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:630	genetic disease		ISO	RGD:1312845	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277|PMID:33710394
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:9001581	Constipation		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:28492532
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305048	Cyfip2	cytoplasmic FMR1 interacting protein 2	gene	DOID:93	language disorder		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868
1305049	Fbxo16	F-box protein 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305049	Fbxo16	F-box protein 16	gene	DOID:10534	stomach cancer		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305049	Fbxo16	F-box protein 16	gene	DOID:1324	lung cancer		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305049	Fbxo16	F-box protein 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305049	Fbxo16	F-box protein 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305049	Fbxo16	F-box protein 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305049	Fbxo16	F-box protein 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305049	Fbxo16	F-box protein 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1312847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305050	Chmp2a	charged multivesicular body protein 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305050	Chmp2a	charged multivesicular body protein 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1603659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305050	Chmp2a	charged multivesicular body protein 2A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305050	Chmp2a	charged multivesicular body protein 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305050	Chmp2a	charged multivesicular body protein 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305050	Chmp2a	charged multivesicular body protein 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305051	Aen	apoptosis enhancing nuclease	gene	DOID:1115	sarcoma		ISO	RGD:1601976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305051	Aen	apoptosis enhancing nuclease	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305051	Aen	apoptosis enhancing nuclease	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1601976	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305051	Aen	apoptosis enhancing nuclease	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305051	Aen	apoptosis enhancing nuclease	gene	DOID:9256	colorectal cancer		ISO	RGD:126736038	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:28492532
1305052	Pgs1	phosphatidylglycerophosphate synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305052	Pgs1	phosphatidylglycerophosphate synthase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305052	Pgs1	phosphatidylglycerophosphate synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305052	Pgs1	phosphatidylglycerophosphate synthase 1	gene	DOID:1324	lung cancer		ISO	RGD:1606322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305052	Pgs1	phosphatidylglycerophosphate synthase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305052	Pgs1	phosphatidylglycerophosphate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305052	Pgs1	phosphatidylglycerophosphate synthase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305052	Pgs1	phosphatidylglycerophosphate synthase 1	gene	DOID:9002189	High Myopia		ISO	RGD:1606322	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1305052	Pgs1	phosphatidylglycerophosphate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305052	Pgs1	phosphatidylglycerophosphate synthase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305053	Arhgap18	Rho GTPase activating protein 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305053	Arhgap18	Rho GTPase activating protein 18	gene	DOID:0060058	lymphoma		ISO	RGD:1312852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305053	Arhgap18	Rho GTPase activating protein 18	gene	DOID:1115	sarcoma		ISO	RGD:1312852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305053	Arhgap18	Rho GTPase activating protein 18	gene	DOID:1324	lung cancer		ISO	RGD:1312852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305053	Arhgap18	Rho GTPase activating protein 18	gene	DOID:1909	melanoma		ISO	RGD:1312852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305053	Arhgap18	Rho GTPase activating protein 18	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305053	Arhgap18	Rho GTPase activating protein 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1312852	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305053	Arhgap18	Rho GTPase activating protein 18	gene	DOID:5419	schizophrenia		ISO	RGD:1312852	D	RGD:5686816|PMID:19065146	20120126	RGD		DNA:SNPs:multiple	
1305053	Arhgap18	Rho GTPase activating protein 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305053	Arhgap18	Rho GTPase activating protein 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305053	Arhgap18	Rho GTPase activating protein 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305054	Dntt	DNA nucleotidylexotransferase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1312854	D	RGD:8694149|PMID:7020399	20140725	RGD		protein:increased activity:peripheral blood,bone marrow:	
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:0060332	mitochondrial complex V (ATP synthase) deficiency nuclear type 3		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ATP6V0A4-related condition	PMID:25741868|PMID:26208211|PMID:27247958|PMID:28492532|PMID:29398133|PMID:31738409|PMID:34997822
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:0061166	autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss		ISO	RGD:1312856	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:0061166	autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss		ISO	RGD:1312856	D	RGD:7240710	20130221	OMIM			
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:0061166	autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss		ISO	RGD:1312856	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	PMID:10973252|PMID:12414817|PMID:16199547|PMID:16611712|PMID:17576681|PMID:18632794|PMID:22093743|PMID:22854161|PMID:23754897|PMID:24033266|PMID:24252324|PMID:25285676|PMID:25741868|PMID:26787776|PMID:28188436|PMID:28233610|PMID:28492532|PMID:29024829|PMID:29202719|PMID:29311258|PMID:29627839|PMID:29725771|PMID:30076350|PMID:30230413|PMID:31328266|PMID:31589614|PMID:31672324|PMID:31959358|PMID:32613277|PMID:34159584|PMID:34805638|PMID:35738466|PMID:35822476|PMID:35990030|PMID:39382926|PMID:40794449|PMID:9536098
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:10534	stomach cancer		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:10609	rickets		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rickets	PMID:12414817|PMID:18632794|PMID:23754897|PMID:25741868|PMID:28492532|PMID:29202719
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:12414817|PMID:18632794|PMID:23754897|PMID:25285676|PMID:25741868|PMID:26787776|PMID:28188436|PMID:28233610|PMID:28492532|PMID:29202719|PMID:29311258
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:1324	lung cancer		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:13250	diarrhea		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:12414817|PMID:18632794|PMID:23754897|PMID:25741868|PMID:28492532|PMID:29202719
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:14219	renal tubular acidosis		ISS	RGD:1312857	D	RGD:13592920	20180518	MouseDO		OMIM:179830 | OMIM:267200 | OMIM:602722	
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:14219	renal tubular acidosis	susceptibility	ISO	RGD:1312856	D	RGD:1599383|PMID:10973252	20070201	RGD			
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:1909	melanoma		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:4362	cervical cancer		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:630	genetic disease		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:40794449
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29202719|PMID:29627839|PMID:34159584|PMID:39382926|PMID:9536098
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:9001510	Funnel Chest		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312856	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:12414817|PMID:23754897|PMID:25741868|PMID:28492532|PMID:29202719|PMID:30230413|PMID:31589614|PMID:32613277
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:9005274	Polyuria		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyuria	PMID:25741868
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:9006727	Polydipsia		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydipsia	PMID:25741868
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:9007406	Distal Renal Tubular Acidosis		ISO	RGD:1312856	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: distal renal tubular acidosis	PMID:12414817|PMID:16611712|PMID:23754897|PMID:25285676|PMID:25741868|PMID:26787776|PMID:28188436|PMID:28233610|PMID:28492532|PMID:29202719|PMID:29311258|PMID:29725771|PMID:30230413|PMID:31589614|PMID:31672324|PMID:31959358|PMID:32613277|PMID:35822476|PMID:35990030
1305055	Atp6v0a4	ATPase H+ transporting V0 subunit a4	gene	DOID:9007993	Dehydration		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dehydration	PMID:12414817|PMID:18632794|PMID:23754897|PMID:25741868|PMID:28492532|PMID:29202719
1305056	Angel2	angel homolog 2	gene	DOID:10534	stomach cancer		ISO	RGD:1601837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305056	Angel2	angel homolog 2	gene	DOID:1324	lung cancer		ISO	RGD:1601837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305056	Angel2	angel homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305056	Angel2	angel homolog 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1601837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305056	Angel2	angel homolog 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305056	Angel2	angel homolog 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305057	Nagk	N-acetylglucosamine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305057	Nagk	N-acetylglucosamine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305057	Nagk	N-acetylglucosamine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1312859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305057	Nagk	N-acetylglucosamine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1312859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305057	Nagk	N-acetylglucosamine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305057	Nagk	N-acetylglucosamine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305057	Nagk	N-acetylglucosamine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1312859	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305057	Nagk	N-acetylglucosamine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305057	Nagk	N-acetylglucosamine kinase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1312859	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005
1305057	Nagk	N-acetylglucosamine kinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312859	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305057	Nagk	N-acetylglucosamine kinase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312859	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1305057	Nagk	N-acetylglucosamine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305058	Rab34	RAB34, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305058	Rab34	RAB34, member RAS oncogene family	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1312861	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Jeune's syndrome	PMID:25741868|PMID:37619988
1305058	Rab34	RAB34, member RAS oncogene family	gene	DOID:0060962	orofaciodigital syndrome XX		ISO	RGD:1312861	D	RGD:7240710	20240221	OMIM			
1305058	Rab34	RAB34, member RAS oncogene family	gene	DOID:0060962	orofaciodigital syndrome XX		ISO	RGD:1312861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XX	PMID:25741868
1305058	Rab34	RAB34, member RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305058	Rab34	RAB34, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305058	Rab34	RAB34, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305058	Rab34	RAB34, member RAS oncogene family	gene	DOID:5041	esophageal cancer		ISO	RGD:1312861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305058	Rab34	RAB34, member RAS oncogene family	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305058	Rab34	RAB34, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305058	Rab34	RAB34, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305058	Rab34	RAB34, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1312863	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:1909	melanoma		ISO	RGD:1312863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1312863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1312863	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305059	Rbm5	RNA binding motif protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305060	Ctnna2	catenin alpha 2	gene	DOID:0050453	lissencephaly		ISO	RGD:1312865	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30013181
1305060	Ctnna2	catenin alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305060	Ctnna2	catenin alpha 2	gene	DOID:0061138	complex cortical dysplasia with other brain malformations 9		ISO	RGD:1312865	D	RGD:7240710	20190315	OMIM			
1305060	Ctnna2	catenin alpha 2	gene	DOID:0061138	complex cortical dysplasia with other brain malformations 9		ISO	RGD:1312865	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | ClinVar Annotator: match by term: CTNNA2-related condition | ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 9	PMID:25741868|PMID:28492532|PMID:30013181
1305060	Ctnna2	catenin alpha 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305060	Ctnna2	catenin alpha 2	gene	DOID:1324	lung cancer		ISO	RGD:1312865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305060	Ctnna2	catenin alpha 2	gene	DOID:1909	melanoma		ISO	RGD:1312865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305060	Ctnna2	catenin alpha 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1312865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
1305060	Ctnna2	catenin alpha 2	gene	DOID:3070	high grade glioma		ISO	RGD:1312865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305060	Ctnna2	catenin alpha 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312865	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305060	Ctnna2	catenin alpha 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305060	Ctnna2	catenin alpha 2	gene	DOID:630	genetic disease		ISO	RGD:1312865	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1305060	Ctnna2	catenin alpha 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1312865	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24816253
1305061	Tppp3	tubulin polymerization-promoting protein family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1604620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305061	Tppp3	tubulin polymerization-promoting protein family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305061	Tppp3	tubulin polymerization-promoting protein family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305062	Rwdd2b	RWD domain containing 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305062	Rwdd2b	RWD domain containing 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305062	Rwdd2b	RWD domain containing 2B	gene	DOID:1115	sarcoma		ISO	RGD:1312868	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305062	Rwdd2b	RWD domain containing 2B	gene	DOID:1909	melanoma		ISO	RGD:1312868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305062	Rwdd2b	RWD domain containing 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1312868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305062	Rwdd2b	RWD domain containing 2B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305062	Rwdd2b	RWD domain containing 2B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305062	Rwdd2b	RWD domain containing 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305063	Rab11fip4	RAB11 family interacting protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305063	Rab11fip4	RAB11 family interacting protein 4	gene	DOID:10283	prostate cancer		ISO	RGD:1348691	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305063	Rab11fip4	RAB11 family interacting protein 4	gene	DOID:10283	prostate cancer		ISO	RGD:1348691	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305063	Rab11fip4	RAB11 family interacting protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305063	Rab11fip4	RAB11 family interacting protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305063	Rab11fip4	RAB11 family interacting protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305063	Rab11fip4	RAB11 family interacting protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305063	Rab11fip4	RAB11 family interacting protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305063	Rab11fip4	RAB11 family interacting protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305063	Rab11fip4	RAB11 family interacting protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305063	Rab11fip4	RAB11 family interacting protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305063	Rab11fip4	RAB11 family interacting protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305063	Rab11fip4	RAB11 family interacting protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305063	Rab11fip4	RAB11 family interacting protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305064	Scrn3	secernin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305064	Scrn3	secernin 3	gene	DOID:1115	sarcoma		ISO	RGD:1312871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305064	Scrn3	secernin 3	gene	DOID:1324	lung cancer		ISO	RGD:1312871	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305064	Scrn3	secernin 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1312871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305064	Scrn3	secernin 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305064	Scrn3	secernin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305064	Scrn3	secernin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305064	Scrn3	secernin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305066	Tnfsf18	TNF superfamily member 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305067	Ube2j1	ubiquitin-conjugating enzyme E2, J1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305067	Ube2j1	ubiquitin-conjugating enzyme E2, J1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305067	Ube2j1	ubiquitin-conjugating enzyme E2, J1	gene	DOID:0080600	COVID-19		ISO	RGD:1312877	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
1305067	Ube2j1	ubiquitin-conjugating enzyme E2, J1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305067	Ube2j1	ubiquitin-conjugating enzyme E2, J1	gene	DOID:3275	thymoma		ISO	RGD:1312877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305067	Ube2j1	ubiquitin-conjugating enzyme E2, J1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312877	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305067	Ube2j1	ubiquitin-conjugating enzyme E2, J1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305067	Ube2j1	ubiquitin-conjugating enzyme E2, J1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305067	Ube2j1	ubiquitin-conjugating enzyme E2, J1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305067	Ube2j1	ubiquitin-conjugating enzyme E2, J1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305067	Ube2j1	ubiquitin-conjugating enzyme E2, J1	gene	DOID:9256	colorectal cancer		ISO	RGD:1312877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305068	Ybx2	Y box binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305068	Ybx2	Y box binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1606288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305068	Ybx2	Y box binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305068	Ybx2	Y box binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305068	Ybx2	Y box binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305069	Smad6	SMAD family member 6	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1312880	D	RGD:152995482|PMID:31874165	20220624	RGD		mRNA:decreased expression:blood plasma (human)	
1305069	Smad6	SMAD family member 6	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:25741868|PMID:28492532|PMID:28659821|PMID:31138930|PMID:32499606|PMID:34953066|PMID:36049609
1305069	Smad6	SMAD family member 6	gene	DOID:0060912	craniosynostosis 7		ISO	RGD:1312880	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: CRS7, DIGENIC | ClinVar Annotator: match by term: Craniosynostosis 7	PMID:17576681|PMID:21681813|PMID:25741868|PMID:27606499|PMID:28492532|PMID:28659821|PMID:32499606|PMID:34429528|PMID:34953066|PMID:36414630|PMID:36732661|PMID:38290823|PMID:38913236|PMID:9536098
1305069	Smad6	SMAD family member 6	gene	DOID:0060912	craniosynostosis 7	susceptibility	ISO	RGD:1312880	D	RGD:7240710	20260805	OMIM			
1305069	Smad6	SMAD family member 6	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1312880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	PMID:28492532|PMID:32641753|PMID:35519826
1305069	Smad6	SMAD family member 6	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1312880	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30455415
1305069	Smad6	SMAD family member 6	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	
1305069	Smad6	SMAD family member 6	gene	DOID:0080333	aortic valve disease 1		ISO	RGD:1312880	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Aortic valve disease 1	PMID:28492532|PMID:30796334
1305069	Smad6	SMAD family member 6	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AORTIC VALVE DISEASE 2 | ClinVar Annotator: match by term: Aortic valve disease 2	PMID:16199547|PMID:17576681|PMID:22275001|PMID:25741868|PMID:25931334|PMID:27606499|PMID:27723096|PMID:28492532|PMID:28659821|PMID:28808027|PMID:30056620|PMID:30796334|PMID:30848080|PMID:31138930|PMID:32005695|PMID:32499606|PMID:32748548|PMID:34429528|PMID:34953066|PMID:36049609|PMID:36414630|PMID:36732661|PMID:36920900|PMID:37977316|PMID:38290823|PMID:38913236|PMID:39226896|PMID:40133303|PMID:9536098
1305069	Smad6	SMAD family member 6	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:1312880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AORTIC VALVE DISEASE 2 | ClinVar Annotator: match by term: Aortic valve disease 2 | ClinVar Annotator: match by term: Aortic valve stenosis	PMID:16199547|PMID:17576681|PMID:21681813|PMID:22275001|PMID:25741868|PMID:25931334|PMID:27606499|PMID:27723096|PMID:28492532|PMID:28659821|PMID:28808027|PMID:30056620|PMID:30796334|PMID:30848080|PMID:31138930|PMID:32005695|PMID:32499606|PMID:32641753|PMID:32748548|PMID:34429528|PMID:34953066|PMID:35519826|PMID:36049609|PMID:36414630|PMID:36732661|PMID:36920900|PMID:37977316|PMID:38290823|PMID:38913236|PMID:39226896|PMID:40133303|PMID:9536098
1305069	Smad6	SMAD family member 6	gene	DOID:0080334	aortic valve disease 2	susceptibility	ISO	RGD:1312880	D	RGD:7240710	20260805	OMIM			
1305069	Smad6	SMAD family member 6	gene	DOID:0111004	Joubert syndrome 9		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 9	PMID:28492532
1305069	Smad6	SMAD family member 6	gene	DOID:10485	esophageal atresia		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:28492532|PMID:32641753|PMID:35519826
1305069	Smad6	SMAD family member 6	gene	DOID:10754	otitis media		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
1305069	Smad6	SMAD family member 6	gene	DOID:10952	nephritis		IEP		D	RGD:2315074|PMID:11170839	20091216	RGD		mRNA:decreased expression:kidney	
1305069	Smad6	SMAD family member 6	gene	DOID:1115	sarcoma		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305069	Smad6	SMAD family member 6	gene	DOID:1148	polydactyly		ISO	RGD:1312880	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:28492532|PMID:34953066
1305069	Smad6	SMAD family member 6	gene	DOID:1324	lung cancer		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305069	Smad6	SMAD family member 6	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1312880	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: thoracic aortic aneurysms	
1305069	Smad6	SMAD family member 6	gene	DOID:1682	congenital heart disease		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
1305069	Smad6	SMAD family member 6	gene	DOID:2340	craniosynostosis		ISO	RGD:1312880	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1305069	Smad6	SMAD family member 6	gene	DOID:2340	craniosynostosis		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868|PMID:28492532|PMID:32499606|PMID:36732661
1305069	Smad6	SMAD family member 6	gene	DOID:520	aortic disease		ISO	RGD:1312880	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial aortopathy	PMID:25741868
1305069	Smad6	SMAD family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305069	Smad6	SMAD family member 6	gene	DOID:630	genetic disease		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11739411|PMID:22275001|PMID:25741868|PMID:27606499|PMID:28492532|PMID:30796334|PMID:30848080|PMID:34953066|PMID:36920900|PMID:39226896|PMID:40133303
1305069	Smad6	SMAD family member 6	gene	DOID:6432	pulmonary hypertension		IEP		D	RGD:1643222|PMID:17347486	20091216	RGD		mRNA:decreased expression:lung	
1305069	Smad6	SMAD family member 6	gene	DOID:9002165	Diabetic Nephropathies		IEP		D	RGD:2289036|PMID:17437042	20091216	RGD		associated with Diabetes Mellitus, Experimental	
1305069	Smad6	SMAD family member 6	gene	DOID:9002589	Bone Fractures		IEP		D	RGD:724455|PMID:11920662	20091216	RGD			
1305069	Smad6	SMAD family member 6	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1312880	D	RGD:2300008|PMID:11078792	20091216	RGD		DNA:polymorphism:intron (human)	
1305069	Smad6	SMAD family member 6	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:32499606|PMID:34429528
1305069	Smad6	SMAD family member 6	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:28492532|PMID:32499606|PMID:36732661
1305069	Smad6	SMAD family member 6	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1312880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1305069	Smad6	SMAD family member 6	gene	DOID:9827	radioulnar synostosis		ISO	RGD:1312880	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Radioulnar synostosis | ClinVar Annotator: match by term: Radioulnar synostosis, nonsyndromic, susceptibility to | ClinVar Annotator: match by term: radioulnar synostosis	PMID:21681813|PMID:25741868|PMID:27606499|PMID:28492532|PMID:28659821|PMID:28808027|PMID:28973083|PMID:31138930|PMID:32499606|PMID:34953066|PMID:36049609|PMID:36414630
1305069	Smad6	SMAD family member 6	gene	DOID:9827	radioulnar synostosis	susceptibility	ISO	RGD:1312880	D	RGD:7240710	20260805	OMIM			
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:0050840	cervical dystonia		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:0050952	spastic ataxia		ISO	RGD:1606754	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532|PMID:31847883|PMID:34445196
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:0080068	Charcot-Marie-Tooth disease type 6		ISS	RGD:1606754	D	RGD:13592920	20190912	MouseDO		OMIM:601152 | OMIM:616505	
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:0112330	pontocerebellar hypoplasia type 1E		ISO	RGD:1606754	D	RGD:7240710	20210526	OMIM			
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:0112330	pontocerebellar hypoplasia type 1E		ISO	RGD:1606754	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1E	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27543974|PMID:28492532|PMID:28653766|PMID:9536098
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:1059	intellectual disability		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1606754	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26168012
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1606754	D	RGD:8554872	20200407	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:28492532
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:11162	respiratory failure		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:1143	exotropia		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:11830	myopia		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:1324	lung cancer		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:1826	epilepsy		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:1909	melanoma		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:3275	thymoma		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:4362	cervical cancer		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:5723	optic atrophy		ISO	RGD:1606754	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26168012
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:5723	optic atrophy		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:630	genetic disease		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27543974|PMID:28369803|PMID:28492532|PMID:28558379|PMID:31847883|PMID:32259769|PMID:34445196|PMID:9536098
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:6364	migraine		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:8446	intussusception		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intussusception	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:8501	fundus dystrophy		ISO	RGD:1606754	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9000343	Vision Disorders		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9000972	Fever		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9001031	Retrognathia		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9007722	Myoclonus		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9008385	Vomiting		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9008547	Charcot-Marie-Tooth Disease Type 6B		ISO	RGD:1606754	D	RGD:7240710	20190911	OMIM			
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9008547	Charcot-Marie-Tooth Disease Type 6B		ISO	RGD:1606754	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, type VIB | ClinVar Annotator: match by term: SLC25A46-related condition	PMID:17576681|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27543974|PMID:28369803|PMID:28492532|PMID:28558379|PMID:30178502|PMID:31607746|PMID:31847883|PMID:32259769|PMID:33841295|PMID:34445196|PMID:9536098
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9008675	Dyskinesias		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868|PMID:28492532|PMID:31607746
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9256	colorectal cancer		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1305072	Slc25a46	solute carrier family 25, member 46	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1606754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:31607746
1305074	Trim69	tripartite motif-containing 69	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305074	Trim69	tripartite motif-containing 69	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312888	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305074	Trim69	tripartite motif-containing 69	gene	DOID:0080711	multisystem inflammatory syndrome in children		ISO	RGD:1312888	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children	
1305074	Trim69	tripartite motif-containing 69	gene	DOID:10534	stomach cancer		ISO	RGD:1312888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305074	Trim69	tripartite motif-containing 69	gene	DOID:3275	thymoma		ISO	RGD:1312888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305074	Trim69	tripartite motif-containing 69	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305074	Trim69	tripartite motif-containing 69	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305074	Trim69	tripartite motif-containing 69	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:1115	sarcoma		ISO	RGD:1312890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:1909	melanoma		ISO	RGD:1312890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:3275	thymoma		ISO	RGD:1312890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1312890	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312890	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305075	Rhbdf1	rhomboid 5 homolog 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305076	Cdc16	cell division cycle 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305076	Cdc16	cell division cycle 16	gene	DOID:10534	stomach cancer		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305076	Cdc16	cell division cycle 16	gene	DOID:1115	sarcoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305076	Cdc16	cell division cycle 16	gene	DOID:1324	lung cancer		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305076	Cdc16	cell division cycle 16	gene	DOID:3275	thymoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305076	Cdc16	cell division cycle 16	gene	DOID:4362	cervical cancer		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305076	Cdc16	cell division cycle 16	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305076	Cdc16	cell division cycle 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305076	Cdc16	cell division cycle 16	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305076	Cdc16	cell division cycle 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305076	Cdc16	cell division cycle 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:26167768
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:0080279	Joubert syndrome 33		ISO	RGD:1312894	D	RGD:7240710	20190315	OMIM			
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:0080279	Joubert syndrome 33		ISO	RGD:1312894	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 33 | ClinVar Annotator: match by term: Joubert syndrome 33 | ClinVar Annotator: match by term: PIBF1-related condition	PMID:25741868|PMID:28492532|PMID:30858804
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:0080279	Joubert syndrome 33		ISS	RGD:1624034	D	RGD:13592920	20250925	MouseDO		OMIM:617767	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:1909	melanoma		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:31474318
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312894	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:630	genetic disease		ISO	RGD:1312894	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:674	cleft palate		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:9000983	Encephalocele		ISO	RGD:1312894	D	RGD:8554872	20210309	ClinVar		ClinVar Annotator: match by term: Cephalocele	PMID:25741868|PMID:26167768|PMID:30858804|PMID:31474318
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:9004410	Threatened Abortion		ISO	RGD:1312894	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15760377
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:9009158	MHC CLASS II DEFICIENCY 1		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MHC class II deficiency 1	PMID:25741868
1305077	Pibf1	progesterone immunomodulatory binding factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1312894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305078	Sulf2	sulfatase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305078	Sulf2	sulfatase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312895	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1305078	Sulf2	sulfatase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305078	Sulf2	sulfatase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305078	Sulf2	sulfatase 2	gene	DOID:1115	sarcoma		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305078	Sulf2	sulfatase 2	gene	DOID:1324	lung cancer		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305078	Sulf2	sulfatase 2	gene	DOID:1909	melanoma		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305078	Sulf2	sulfatase 2	gene	DOID:289	endometriosis		ISO	RGD:1312895	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642|PMID:21063030
1305078	Sulf2	sulfatase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305078	Sulf2	sulfatase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305078	Sulf2	sulfatase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305078	Sulf2	sulfatase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312895	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305078	Sulf2	sulfatase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305078	Sulf2	sulfatase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305078	Sulf2	sulfatase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305078	Sulf2	sulfatase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305078	Sulf2	sulfatase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305078	Sulf2	sulfatase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305079	Dse	dermatan sulfate epimerase	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	
1305079	Dse	dermatan sulfate epimerase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1305079	Dse	dermatan sulfate epimerase	gene	DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2		ISO	RGD:1312897	D	RGD:7240710	20140911	OMIM			
1305079	Dse	dermatan sulfate epimerase	gene	DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2		ISO	RGD:1312897	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DSE-related condition | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28229453|PMID:28492532|PMID:32130795|PMID:9536098
1305079	Dse	dermatan sulfate epimerase	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1312897	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:25741868|PMID:28492532
1305079	Dse	dermatan sulfate epimerase	gene	DOID:1909	melanoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305079	Dse	dermatan sulfate epimerase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1305079	Dse	dermatan sulfate epimerase	gene	DOID:3275	thymoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305079	Dse	dermatan sulfate epimerase	gene	DOID:4362	cervical cancer		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1305079	Dse	dermatan sulfate epimerase	gene	DOID:5041	esophageal cancer		ISO	RGD:1312897	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1305079	Dse	dermatan sulfate epimerase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305079	Dse	dermatan sulfate epimerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1305079	Dse	dermatan sulfate epimerase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305079	Dse	dermatan sulfate epimerase	gene	DOID:630	genetic disease		ISO	RGD:1312897	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305079	Dse	dermatan sulfate epimerase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1305079	Dse	dermatan sulfate epimerase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1305079	Dse	dermatan sulfate epimerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305079	Dse	dermatan sulfate epimerase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1305079	Dse	dermatan sulfate epimerase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	
1305080	Cdkl1	cyclin dependent kinase like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305080	Cdkl1	cyclin dependent kinase like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305080	Cdkl1	cyclin dependent kinase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305080	Cdkl1	cyclin dependent kinase like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305081	Aif1l	allograft inflammatory factor 1-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305081	Aif1l	allograft inflammatory factor 1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305081	Aif1l	allograft inflammatory factor 1-like	gene	DOID:1115	sarcoma		ISO	RGD:1312901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305081	Aif1l	allograft inflammatory factor 1-like	gene	DOID:1612	breast cancer	severity	ISO	RGD:1312901	D	RGD:13842475|PMID:30233209	20190129	RGD			
1305081	Aif1l	allograft inflammatory factor 1-like	gene	DOID:4362	cervical cancer		ISO	RGD:1312901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305081	Aif1l	allograft inflammatory factor 1-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305081	Aif1l	allograft inflammatory factor 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305083	Ro60	Ro60, Y RNA binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305083	Ro60	Ro60, Y RNA binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305083	Ro60	Ro60, Y RNA binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1312904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305083	Ro60	Ro60, Y RNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1312904	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305083	Ro60	Ro60, Y RNA binding protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305083	Ro60	Ro60, Y RNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305083	Ro60	Ro60, Y RNA binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305083	Ro60	Ro60, Y RNA binding protein	gene	DOID:9074	systemic lupus erythematosus		ISS	RGD:1624075	D	RGD:13592920	20180518	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
1305084	Zfp473	zinc finger protein 473	gene	DOID:1324	lung cancer		ISO	RGD:1352232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305084	Zfp473	zinc finger protein 473	gene	DOID:3275	thymoma		ISO	RGD:1352232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305084	Zfp473	zinc finger protein 473	gene	DOID:4362	cervical cancer		ISO	RGD:1352232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305084	Zfp473	zinc finger protein 473	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305084	Zfp473	zinc finger protein 473	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305085	Matn3	matrilin 3	gene	DOID:0070299	multiple epiphyseal dysplasia 5		ISO	RGD:1312907	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305085	Matn3	matrilin 3	gene	DOID:0070299	multiple epiphyseal dysplasia 5		ISO	RGD:1312907	D	RGD:7240710	20260708	OMIM			
1305085	Matn3	matrilin 3	gene	DOID:0070299	multiple epiphyseal dysplasia 5		ISO	RGD:1312907	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	PMID:14729835|PMID:15948199|PMID:16287128|PMID:17517694|PMID:18205203|PMID:20428984|PMID:21922596|PMID:28492532
1305085	Matn3	matrilin 3	gene	DOID:0070299	multiple epiphyseal dysplasia 5		ISS	RGD:1312908	D	RGD:13592920	20230718	MouseDO		OMIM:607078	
1305085	Matn3	matrilin 3	gene	DOID:0080047	pseudoachondroplasia		ISO	RGD:1312907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	PMID:25741868
1305085	Matn3	matrilin 3	gene	DOID:12721	multiple epiphyseal dysplasia		ISO	RGD:1312907	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Multiple epiphyseal dysplasia	PMID:11479597|PMID:14729835|PMID:15459972|PMID:16199550|PMID:16287128|PMID:18205203|PMID:18518980|PMID:20301302|PMID:21965141|PMID:25741868|PMID:26377240|PMID:26499313|PMID:28492532|PMID:30138938|PMID:34092239|PMID:34122524|PMID:38378010
1305085	Matn3	matrilin 3	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1312907	D	RGD:1599919|PMID:15121775	20070221	RGD			
1305085	Matn3	matrilin 3	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1312907	D	RGD:1599920|PMID:11479597	20070221	RGD			
1305085	Matn3	matrilin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312907	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305085	Matn3	matrilin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312907	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305085	Matn3	matrilin 3	gene	DOID:630	genetic disease		ISO	RGD:1312907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11479597|PMID:14729835|PMID:15459972|PMID:16199550|PMID:16287128|PMID:18518980|PMID:20301302|PMID:21965141|PMID:25741868|PMID:26377240|PMID:26499313|PMID:28492532|PMID:30138938|PMID:34122524|PMID:38378010
1305085	Matn3	matrilin 3	gene	DOID:65	connective tissue disease		ISO	RGD:1312907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532|PMID:37019085
1305085	Matn3	matrilin 3	gene	DOID:8398	osteoarthritis		ISO	RGD:1312907	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305085	Matn3	matrilin 3	gene	DOID:8398	osteoarthritis		ISO	RGD:1312907	D	RGD:7240710	20260708	OMIM			
1305085	Matn3	matrilin 3	gene	DOID:8398	osteoarthritis		ISO	RGD:1312907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoarthritis susceptibility 2	PMID:25741868
1305085	Matn3	matrilin 3	gene	DOID:8398	osteoarthritis		ISS	RGD:1312908	D	RGD:13592920	20230718	MouseDO			
1305085	Matn3	matrilin 3	gene	DOID:9006065	Arthralgia		ISO	RGD:1312907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868
1305085	Matn3	matrilin 3	gene	DOID:9007064	Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type		ISO	RGD:1312907	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305085	Matn3	matrilin 3	gene	DOID:9007064	Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type		ISO	RGD:1312907	D	RGD:7240710	20260708	OMIM			
1305085	Matn3	matrilin 3	gene	DOID:9007064	Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type		ISO	RGD:1312907	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, MATN3-related | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, matrilin-3 type	PMID:11479597|PMID:14729835|PMID:15459972|PMID:16199550|PMID:16287128|PMID:18518980|PMID:20301302|PMID:21965141|PMID:25741868|PMID:26377240|PMID:26499313|PMID:28492532|PMID:30138938|PMID:34122524|PMID:38378010
1305087	Slc9b1	solute carrier family 9 member B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305087	Slc9b1	solute carrier family 9 member B1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1605279	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1305087	Slc9b1	solute carrier family 9 member B1	gene	DOID:10534	stomach cancer		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305087	Slc9b1	solute carrier family 9 member B1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305087	Slc9b1	solute carrier family 9 member B1	gene	DOID:1115	sarcoma		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305087	Slc9b1	solute carrier family 9 member B1	gene	DOID:1324	lung cancer		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305087	Slc9b1	solute carrier family 9 member B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305087	Slc9b1	solute carrier family 9 member B1	gene	DOID:3275	thymoma		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305087	Slc9b1	solute carrier family 9 member B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305088	Purg	purine-rich element binding protein G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305088	Purg	purine-rich element binding protein G	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312911	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305088	Purg	purine-rich element binding protein G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305089	Prorp	protein only RNase P catalytic subunit	gene	DOID:0070427	combined oxidative phosphorylation deficiency 54		ISO	RGD:1312913	D	RGD:7240710	20220223	OMIM			
1305090	Mnmip1	manchette microtubule inner protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305090	Mnmip1	manchette microtubule inner protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305090	Mnmip1	manchette microtubule inner protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605948	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305090	Mnmip1	manchette microtubule inner protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305090	Mnmip1	manchette microtubule inner protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305090	Mnmip1	manchette microtubule inner protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305092	Lrrc59	leucine rich repeat containing 59	gene	DOID:1324	lung cancer		ISO	RGD:1605059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305092	Lrrc59	leucine rich repeat containing 59	gene	DOID:3068	glioblastoma		ISO	RGD:1605059	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1305092	Lrrc59	leucine rich repeat containing 59	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305092	Lrrc59	leucine rich repeat containing 59	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605059	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1305092	Lrrc59	leucine rich repeat containing 59	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305092	Lrrc59	leucine rich repeat containing 59	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605059	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1305092	Lrrc59	leucine rich repeat containing 59	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605059	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1305092	Lrrc59	leucine rich repeat containing 59	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1605059	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1305093	Mxd4	Max dimerization protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305093	Mxd4	Max dimerization protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305093	Mxd4	Max dimerization protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305093	Mxd4	Max dimerization protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305093	Mxd4	Max dimerization protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305093	Mxd4	Max dimerization protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305095	Fbxo24	F-box protein 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305096	Pdrg1	p53 and DNA damage regulated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305096	Pdrg1	p53 and DNA damage regulated 1	gene	DOID:1324	lung cancer		ISO	RGD:1349373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305096	Pdrg1	p53 and DNA damage regulated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305096	Pdrg1	p53 and DNA damage regulated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305096	Pdrg1	p53 and DNA damage regulated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305096	Pdrg1	p53 and DNA damage regulated 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1349373	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1305096	Pdrg1	p53 and DNA damage regulated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305096	Pdrg1	p53 and DNA damage regulated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:0060320	inguinal hernia		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:1059	intellectual disability		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:10907	microcephaly		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:11111	hydronephrosis		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:1115	sarcoma		ISO	RGD:1352511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:12849	autistic disorder		ISO	RGD:1352511	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:12849	autistic disorder		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:1324	lung cancer		ISO	RGD:1352511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:13620	patent foramen ovale		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:1826	epilepsy		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:1909	melanoma		ISO	RGD:1352511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:630	genetic disease		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:9000343	Vision Disorders		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:9001203	Turnpenny-Fry Syndrome		ISO	RGD:1352511	D	RGD:7240710	20190424	OMIM			
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:9001203	Turnpenny-Fry Syndrome		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PCGF2-related condition | ClinVar Annotator: match by term: TURNPENNY-FRY SYNDROME | ClinVar Annotator: match by term: Turnpenny-fry syndrome	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:9001581	Constipation		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305097	Pcgf2	polycomb group ring finger 2	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1352511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25533962|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942
1305098	Slc30a10	solute carrier family 30, member 10	gene	DOID:0080536	hypermanganesemia with dystonia 1		ISO	RGD:1604615	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22341971|PMID:22926781
1305098	Slc30a10	solute carrier family 30, member 10	gene	DOID:0080536	hypermanganesemia with dystonia 1		ISO	RGD:1604615	D	RGD:7240710	20171011	OMIM			
1305098	Slc30a10	solute carrier family 30, member 10	gene	DOID:0080536	hypermanganesemia with dystonia 1		ISO	RGD:1604615	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPERMANGANESEMIA WITH DYSTONIA 1 | ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis | ClinVar Annotator: match by term: SLC30A10-related condition	PMID:22934317|PMID:25741868|PMID:27117033|PMID:28492532|PMID:31594250|PMID:34315874
1305098	Slc30a10	solute carrier family 30, member 10	gene	DOID:0080855	Parkinsonism		ISO	RGD:1604615	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26220508
1305098	Slc30a10	solute carrier family 30, member 10	gene	DOID:13580	cholestasis		ISO	RGD:1604615	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
1305098	Slc30a10	solute carrier family 30, member 10	gene	DOID:14330	Parkinson's disease		ISO	RGD:1604615	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25149416
1305098	Slc30a10	solute carrier family 30, member 10	gene	DOID:1459	hypothyroidism		ISO	RGD:1604615	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:28860195
1305098	Slc30a10	solute carrier family 30, member 10	gene	DOID:5082	liver cirrhosis		ISO	RGD:1604615	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22926781
1305098	Slc30a10	solute carrier family 30, member 10	gene	DOID:543	dystonia		ISO	RGD:1604615	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22926781
1305098	Slc30a10	solute carrier family 30, member 10	gene	DOID:630	genetic disease		ISO	RGD:1604615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305098	Slc30a10	solute carrier family 30, member 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305098	Slc30a10	solute carrier family 30, member 10	gene	DOID:8432	polycythemia		ISO	RGD:1604615	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22926781
1305098	Slc30a10	solute carrier family 30, member 10	gene	DOID:9000304	Manganese Poisoning		ISO	RGD:1604615	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:28860195|PMID:29429640
1305098	Slc30a10	solute carrier family 30, member 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305100	Pbx4	PBX homeobox 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305100	Pbx4	PBX homeobox 4	gene	DOID:10534	stomach cancer		ISO	RGD:1345476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305100	Pbx4	PBX homeobox 4	gene	DOID:4362	cervical cancer		ISO	RGD:1345476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305100	Pbx4	PBX homeobox 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305100	Pbx4	PBX homeobox 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305100	Pbx4	PBX homeobox 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305100	Pbx4	PBX homeobox 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305100	Pbx4	PBX homeobox 4	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1345476	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
1305100	Pbx4	PBX homeobox 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305100	Pbx4	PBX homeobox 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1345476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305101	Pudp	pseudouridine 5'-phosphatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305101	Pudp	pseudouridine 5'-phosphatase	gene	DOID:3275	thymoma		ISO	RGD:1344399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305101	Pudp	pseudouridine 5'-phosphatase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305101	Pudp	pseudouridine 5'-phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305101	Pudp	pseudouridine 5'-phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305102	Scel	sciellin	gene	DOID:10534	stomach cancer		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305102	Scel	sciellin	gene	DOID:1115	sarcoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305102	Scel	sciellin	gene	DOID:1324	lung cancer		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305102	Scel	sciellin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305102	Scel	sciellin	gene	DOID:4362	cervical cancer		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305102	Scel	sciellin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305102	Scel	sciellin	gene	DOID:5041	esophageal cancer		ISO	RGD:1312935	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305102	Scel	sciellin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305102	Scel	sciellin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305102	Scel	sciellin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305102	Scel	sciellin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312937	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312937	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:0060249	scoliosis		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:38816421
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:38816421
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868|PMID:38816421
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312937	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:1059	intellectual disability		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:38816421
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:10907	microcephaly		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:38816421
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:12849	autistic disorder		ISO	RGD:1312937	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:14264	benign neonatal seizures		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:25741868|PMID:38816421
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:1826	epilepsy		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:1909	melanoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:303	substance-related disorder		ISO	RGD:1312937	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:3275	thymoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312937	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:5419	schizophrenia		ISO	RGD:1312937	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:5419	schizophrenia		ISS	RGD:1312938	D	RGD:13592920	20180518	MouseDO		OMIM:181500	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:670	amphetamine abuse		ISO	RGD:1312937	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312937	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:8893	psoriasis		ISO	RGD:1312937	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953187
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:9007595	Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome		ISO	RGD:1312937	D	RGD:632518374|PMID:24876173	20260210	RGD		DNA:SNPs: :rs11779254, rs6997939	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:38816421
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305103	Csmd1	CUB and Sushi multiple domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305104	Ankrd2	ankyrin repeat domain 2	gene	DOID:3275	thymoma		ISO	RGD:1312939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305104	Ankrd2	ankyrin repeat domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305104	Ankrd2	ankyrin repeat domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305104	Ankrd2	ankyrin repeat domain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305105	Smyd1	SET and MYND domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305105	Smyd1	SET and MYND domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1312941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305105	Smyd1	SET and MYND domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305106	Cidea	cell death-inducing DFFA-like effector a	gene	DOID:10534	stomach cancer		ISO	RGD:1312942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305106	Cidea	cell death-inducing DFFA-like effector a	gene	DOID:6000	congestive heart failure		ISO	RGD:1312942	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670611
1305106	Cidea	cell death-inducing DFFA-like effector a	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312942	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305106	Cidea	cell death-inducing DFFA-like effector a	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305106	Cidea	cell death-inducing DFFA-like effector a	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1312942	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030|PMID:28108177
1305106	Cidea	cell death-inducing DFFA-like effector a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305106	Cidea	cell death-inducing DFFA-like effector a	gene	DOID:9970	obesity		ISO	RGD:1312942	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20975297
1305106	Cidea	cell death-inducing DFFA-like effector a	gene	DOID:9970	obesity		ISO	RGD:1312942	D	RGD:1625390|PMID:16186410	20070606	RGD			
1305107	Srpk2	SRSF protein kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312944	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1305107	Srpk2	SRSF protein kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312944	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1305107	Srpk2	SRSF protein kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305107	Srpk2	SRSF protein kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1312944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305107	Srpk2	SRSF protein kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1312944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305107	Srpk2	SRSF protein kinase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1312944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305107	Srpk2	SRSF protein kinase 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1312944	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
1305107	Srpk2	SRSF protein kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312944	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1305107	Srpk2	SRSF protein kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305107	Srpk2	SRSF protein kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312944	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1305107	Srpk2	SRSF protein kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312944	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1305107	Srpk2	SRSF protein kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305109	Stom	stomatin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305109	Stom	stomatin	gene	DOID:1909	melanoma		ISO	RGD:1312947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305109	Stom	stomatin	gene	DOID:5041	esophageal cancer		ISO	RGD:1312947	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305109	Stom	stomatin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305109	Stom	stomatin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305109	Stom	stomatin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305110	Sanbr	SANT and BTB domain regulator of CSR	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305110	Sanbr	SANT and BTB domain regulator of CSR	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305110	Sanbr	SANT and BTB domain regulator of CSR	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305110	Sanbr	SANT and BTB domain regulator of CSR	gene	DOID:1324	lung cancer		ISO	RGD:1606998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305110	Sanbr	SANT and BTB domain regulator of CSR	gene	DOID:1909	melanoma		ISO	RGD:1606998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305110	Sanbr	SANT and BTB domain regulator of CSR	gene	DOID:3275	thymoma		ISO	RGD:1606998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305110	Sanbr	SANT and BTB domain regulator of CSR	gene	DOID:4362	cervical cancer		ISO	RGD:1606998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305110	Sanbr	SANT and BTB domain regulator of CSR	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305110	Sanbr	SANT and BTB domain regulator of CSR	gene	DOID:5041	esophageal cancer		ISO	RGD:1606998	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305110	Sanbr	SANT and BTB domain regulator of CSR	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305110	Sanbr	SANT and BTB domain regulator of CSR	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305110	Sanbr	SANT and BTB domain regulator of CSR	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305110	Sanbr	SANT and BTB domain regulator of CSR	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305110	Sanbr	SANT and BTB domain regulator of CSR	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606998	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:0080636	syndromic microphthalmia		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic microphthalmia	PMID:25741868|PMID:38242088
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:10534	stomach cancer		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:1115	sarcoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:1324	lung cancer		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:1686	glaucoma		ISO	RGD:1312950	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:25741868
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:1909	melanoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:4362	cervical cancer		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1312950	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:9004657	Weight Gain		ISO	RGD:1312950	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305111	Arhgef12	Rho guanine nucleotide exchange factor 12	gene	DOID:9256	colorectal cancer		ISO	RGD:1312950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305112	Tex2	testis expressed 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305112	Tex2	testis expressed 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305112	Tex2	testis expressed 2	gene	DOID:0080600	COVID-19		ISO	RGD:1603633	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305112	Tex2	testis expressed 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305112	Tex2	testis expressed 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305112	Tex2	testis expressed 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305112	Tex2	testis expressed 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305112	Tex2	testis expressed 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603633	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305112	Tex2	testis expressed 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305112	Tex2	testis expressed 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603633	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305112	Tex2	testis expressed 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305112	Tex2	testis expressed 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305112	Tex2	testis expressed 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1603633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305112	Tex2	testis expressed 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305112	Tex2	testis expressed 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305112	Tex2	testis expressed 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305112	Tex2	testis expressed 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305113	Nubp2	NUBP iron-sulfur cluster assembly factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305113	Nubp2	NUBP iron-sulfur cluster assembly factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305113	Nubp2	NUBP iron-sulfur cluster assembly factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305113	Nubp2	NUBP iron-sulfur cluster assembly factor 2	gene	DOID:3275	thymoma		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305113	Nubp2	NUBP iron-sulfur cluster assembly factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305113	Nubp2	NUBP iron-sulfur cluster assembly factor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305113	Nubp2	NUBP iron-sulfur cluster assembly factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312953	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305113	Nubp2	NUBP iron-sulfur cluster assembly factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305113	Nubp2	NUBP iron-sulfur cluster assembly factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305113	Nubp2	NUBP iron-sulfur cluster assembly factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305113	Nubp2	NUBP iron-sulfur cluster assembly factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305114	Mob1b	MOB kinase activator 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305114	Mob1b	MOB kinase activator 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305114	Mob1b	MOB kinase activator 1B	gene	DOID:1115	sarcoma		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305114	Mob1b	MOB kinase activator 1B	gene	DOID:1324	lung cancer		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305114	Mob1b	MOB kinase activator 1B	gene	DOID:3275	thymoma		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305114	Mob1b	MOB kinase activator 1B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305114	Mob1b	MOB kinase activator 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305114	Mob1b	MOB kinase activator 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305115	Hbe1	hemoglobin subunit epsilon 1	gene	DOID:10923	sickle cell anemia	treatment	ISO	RGD:1312957	D	RGD:11353858|PMID:12124399	20160725	RGD			
1305115	Hbe1	hemoglobin subunit epsilon 1	gene	DOID:10923	sickle cell anemia	treatment	ISO	RGD:1312957	D	RGD:11353860|PMID:23409025	20160725	RGD		DNA:SNP: :rs7130110 (human)	
1305115	Hbe1	hemoglobin subunit epsilon 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305115	Hbe1	hemoglobin subunit epsilon 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305117	Jpt2	Jupiter microtubule associated homolog 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305117	Jpt2	Jupiter microtubule associated homolog 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305117	Jpt2	Jupiter microtubule associated homolog 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1312960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305117	Jpt2	Jupiter microtubule associated homolog 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305117	Jpt2	Jupiter microtubule associated homolog 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305117	Jpt2	Jupiter microtubule associated homolog 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305119	Daam1	dishevelled associated activator of morphogenesis 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305119	Daam1	dishevelled associated activator of morphogenesis 1	gene	DOID:0060036	intrinsic cardiomyopathy		ISS	RGD:1312963	D	RGD:13592920	20180518	MouseDO			
1305119	Daam1	dishevelled associated activator of morphogenesis 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305119	Daam1	dishevelled associated activator of morphogenesis 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305119	Daam1	dishevelled associated activator of morphogenesis 1	gene	DOID:1826	epilepsy		ISO	RGD:1346826	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
1305119	Daam1	dishevelled associated activator of morphogenesis 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305119	Daam1	dishevelled associated activator of morphogenesis 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305119	Daam1	dishevelled associated activator of morphogenesis 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305119	Daam1	dishevelled associated activator of morphogenesis 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305119	Daam1	dishevelled associated activator of morphogenesis 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305119	Daam1	dishevelled associated activator of morphogenesis 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305120	Dennd2d	DENN domain containing 2D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305120	Dennd2d	DENN domain containing 2D	gene	DOID:10534	stomach cancer		ISO	RGD:1602459	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305120	Dennd2d	DENN domain containing 2D	gene	DOID:1909	melanoma		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305120	Dennd2d	DENN domain containing 2D	gene	DOID:5041	esophageal cancer		ISO	RGD:1602459	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305120	Dennd2d	DENN domain containing 2D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305120	Dennd2d	DENN domain containing 2D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305120	Dennd2d	DENN domain containing 2D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1625089	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:28492532
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		IEP		D	RGD:329951008|PMID:23329013	20230706	RGD		mRNA, protein:increased expression:liver	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1625089	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:35654975
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:0080334	aortic valve disease 2	sexual_dimorphism	ISO	RGD:1625089	D	RGD:11251377|PMID:26431034	20230522	RGD		DNA:SNP: :rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:0081292	traumatic brain injury		IEP		D	RGD:329901857|PMID:31992337	20230627	RGD		mRNA:decreased expression:cerebral cortex	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1625089	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:17558409|PMID:28492532
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:10325	silicosis		ISO	RGD:1625089	D	RGD:11554173	20240206	CTD		CTD Direct Evidence: marker/mechanism	PMID:37979906
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:1059	intellectual disability		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:10763	hypertension		ISO	RGD:1621572	D	RGD:329812016|PMID:31801409	20230522	RGD		associated with Obesity	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:10763	hypertension		ISO	RGD:1625089	D	RGD:329901765|PMID:20031594	20230622	RGD		DNA:SNP:intron:rs9302652 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:10825	essential hypertension		ISO	RGD:1625089	D	RGD:329845889|PMID:23691120	20230605	RGD		DNA:SNP: :rs8050136 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:10908	hydrocephalus		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:26378117
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:11446	sciatic neuropathy		IMP		D	RGD:329951012|PMID:36545239	20230707	RGD			
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:11446	sciatic neuropathy		IMP		D	RGD:329951014|PMID:33829413	20230707	RGD			
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:1287	cardiovascular system disease	sexual_dimorphism	ISO	RGD:1625089	D	RGD:329901763|PMID:20400278	20230622	RGD		associated with type 2 diabetes mellitus;DNA:SNP: :rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:1324	lung cancer		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:13963	nuclear senile cataract		ISO	RGD:1625089	D	RGD:329845885|PMID:19329528	20230605	RGD		DNA:SNP: :rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:1657	ventricular septal defect		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:28492532
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:1826	epilepsy		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:1909	melanoma		ISO	RGD:1625089	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23455637
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:1909	melanoma		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:1936	atherosclerosis	sexual_dimorphism	ISO	RGD:1621572	D	RGD:329812017|PMID:28253220	20230522	RGD			
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:329901764|PMID:32426101	20230622	RGD		protein:decreased expression:cerebral cortex	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:329951019|PMID:36479246	20230707	RGD		mRNA:decreased expression:cerebral cortex	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1621572	D	RGD:329901768|PMID:34413770	20230622	RGD		mRNA:decreased expression:heart	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:28492532
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:3083	chronic obstructive pulmonary disease	disease_progression	ISO	RGD:1625089	D	RGD:640476655|PMID:27118560	20260318	RGD		DNA:SNP: :rs9939609	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:3393	coronary artery disease		ISO	RGD:1625089	D	RGD:329812039|PMID:24622111	20230522	RGD		DNA:SNP: :rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:3393	coronary artery disease		ISO	RGD:1625089	D	RGD:329901772|PMID:28167353	20230623	RGD		DNA:SNP:intron:rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:4450	renal cell carcinoma	treatment	ISO	RGD:1625089	D	RGD:329812005|PMID:30648791	20230519	RGD			
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1625089	D	RGD:329812006|PMID:32817424	20230519	RGD		mRNA:increased expression:kidney	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:4467	clear cell renal cell carcinoma	disease_progression	ISO	RGD:1625089	D	RGD:329812005|PMID:30648791	20230519	RGD		mRNA:decreased expression:kidney	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:4467	clear cell renal cell carcinoma	treatment	ISO	RGD:1625089	D	RGD:329812006|PMID:32817424	20230519	RGD			
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:552	pneumonia	susceptibility	ISO	RGD:1625089	D	RGD:640476655|PMID:27118560	20260318	RGD		associated with chronic obstructive pulmonary disease; DNA:SNP: :rs9939609	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:5844	myocardial infarction		ISO	RGD:1621572	D	RGD:329812009|PMID:29997116	20230519	RGD		mRNA, protein:decreased expression:heart	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:5844	myocardial infarction		ISO	RGD:1625089	D	RGD:11555187|PMID:26772723	20230623	RGD		DNA:SNP: :rs17817449 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:5844	myocardial infarction		ISO	RGD:1625089	D	RGD:329901766|PMID:20031593	20230622	RGD		associated with type 2 diabetes mellitus;DNA:SNP:intron:rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:1621572	D	RGD:329812009|PMID:29997116	20230519	RGD			
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:6000	congestive heart failure		ISO	RGD:1621572|RGD:1625089	D	RGD:329901854|PMID:33748197	20230627	RGD		mRNA:increased expression:heart	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:6000	congestive heart failure		ISO	RGD:1625089	D	RGD:329812009|PMID:29997116	20230519	RGD		mRNA, protein:decreased expression:heart	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:1621572	D	RGD:329812038|PMID:34728610	20230522	RGD			
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:1621572	D	RGD:329901853|PMID:36120562	20230627	RGD		protein:increased expression:heart	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:630	genetic disease		ISO	RGD:1625089	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1625089	D	RGD:329901855|PMID:32042813	20230627	RGD		mRNA, protein:altered expression:aorta	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9000528	Coronary Disease		ISO	RGD:1625089	D	RGD:11555922|PMID:26555680	20230620	RGD		DNA:SNP: :rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9001686	Acute Coronary Syndrome	susceptibility	ISO	RGD:1625089	D	RGD:329813083|PMID:20362563	20230523	RGD		DNA:SNP: :rs17817449 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9001820	Pulmonary Arterial Hypertension		IEP		D	RGD:329845886|PMID:34310344	20230605	RGD		protein:decreased expression:lung	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1625089	D	RGD:329901856|PMID:29410390	20230627	RGD		associated with type 2 diabetes mellitus;DNA:SNPs: :rs1121980, rs1421085, rs17817449 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:1625089	D	RGD:329813082|PMID:29154870	20230523	RGD		associated with diabetes mellitus;DNA:SNP: :rs17817449 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:1625089	D	RGD:329813084|PMID:34134115	20230523	RGD		associated with type 2 diabetes mellitus;DNA:SNP: :rs7204609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:1621572	D	RGD:329812008|PMID:34102854	20230519	RGD		associated with Cerebral Hemorrhage	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9002231	Fetal Growth Retardation		IEP		D	RGD:329955538|PMID:25054679	20230713	RGD		mRNA:decreased expression:placenta	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1625089	D	RGD:329955538|PMID:25054679	20230713	RGD		mRNA:decreased expression:chorionic villus	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9002371	Cardiotoxicity		IDA		D	RGD:329951017|PMID:35462195	20230707	RGD		DNA:hypermethylation:promoter	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1621572	D	RGD:329812008|PMID:34102854	20230519	RGD		protein:increased expression:thalamic complex	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9003081	Growth Retardation, Developmental Delay, Coarse Facies, and Early Death		ISO	RGD:1625089	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9003081	Growth Retardation, Developmental Delay, Coarse Facies, and Early Death		ISO	RGD:1625089	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM	PMID:19833892|PMID:26820768|PMID:27105045|PMID:28492532
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9003081	Growth Retardation, Developmental Delay, Coarse Facies, and Early Death	susceptibility	ISO	RGD:1625089	D	RGD:7240710	20260805	OMIM			
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:1625089	D	RGD:329901775|PMID:28528403	20230623	RGD		DNA:SNP: :rs1558902 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9003505	Venous Thromboembolism	sexual_dimorphism	ISO	RGD:1625089	D	RGD:329812019|PMID:29325734	20230522	RGD		DNA:SNP: :rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9003507	Premature Birth		ISO	RGD:1625089	D	RGD:329845883|PMID:27768255	20230605	RGD		DNA:SNP: :rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:1625089	D	RGD:11055817|PMID:25953783	20260310	RGD		DNA:SNP: :rs1558902	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:1625089	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25137265
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9004581	Pediatric Obesity	treatment	ISO	RGD:1625089	D	RGD:11054066|PMID:26849546	20230623	RGD		DNA:SNP: :rs17817449 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9004657	Weight Gain		ISO	RGD:1625089	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25322899
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9005298	heart transplant rejection		ISO	RGD:1625089	D	RGD:329845888|PMID:30408245	20230605	RGD		DNA:SNP: :rs17817449 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9006411	Testicular Injury		IEP		D	RGD:329951021|PMID:31923814	20230707	RGD		mRNA:decreased expression:testis	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1625089	D	RGD:329853776|PMID:21796137	20230620	RGD		DNA:SNPs: :rs1421085, rs1558902, rs8050136, rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1625089	D	RGD:329901771|PMID:32061761	20230623	RGD		DNA:SNP: :rs9939973 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9006778	Carotid Atherosclerosis		ISO	RGD:1625089	D	RGD:329901850|PMID:36894991	20230627	RGD		DNA:SNP:intron:rs9937354 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9007633	Body Weight		ISO	RGD:1625089	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22344219|PMID:22344221
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9007692	Insulin Resistance		IEP		D	RGD:329951016|PMID:35945320	20230707	RGD		mRNA, protein:increased expression:liver	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1625089	D	RGD:329812018|PMID:30273662	20230522	RGD		associated with diabetes mellitus;DNA:SNP: :rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1625089	D	RGD:329812040|PMID:21919686	20230522	RGD		associated with obesity;DNA:SNP:intron:rs17817449 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1625089	D	RGD:329853775|PMID:20075932	20230620	RGD		DNA:SNPs, haplotype: :rs1121980, rs1558902, rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9008091	Optic Nerve Injuries		IEP		D	RGD:329951020|PMID:33664770	20230707	RGD		mRNA:increased expression:retina	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1625089	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23535733
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:26378117
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9352	type 2 diabetes mellitus		IEP		D	RGD:329951010|PMID:25303482	20230707	RGD		mRNA:increased expression:blood	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1625089	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104008
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1625089	D	RGD:329901762|PMID:21294771	20230622	RGD		DNA:SNP: :rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1625089	D	RGD:329901771|PMID:32061761	20230623	RGD		DNA:SNP: :rs1421085 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1625089	D	RGD:329901773|PMID:28890888	20230623	RGD		DNA:SNP:intron:rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1625089	D	RGD:329901856|PMID:29410390	20230627	RGD		DNA:SNPs: :multiple	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1625089	D	RGD:329813082|PMID:29154870	20230523	RGD		DNA:SNP: :rs17817449 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9408	acute myocardial infarction		ISO	RGD:1625089	D	RGD:329901852|PMID:35693610	20230627	RGD		mRNA:increased expression:blood	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9477	pulmonary embolism		ISO	RGD:1625089	D	RGD:329901770|PMID:25161014	20230623	RGD		associated with Venous Thrombosis;DNA:SNP:intron:rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9538	multiple myeloma		ISO	RGD:1625089	D	RGD:329901767|PMID:34274946	20230622	RGD		mRNA:increased expression:bone marrow	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9743	diabetic neuropathy	susceptibility	ISO	RGD:1625089	D	RGD:329813082|PMID:29154870	20230523	RGD		associated with type 2 diabetes mellitus;DNA:SNP: :rs17817449 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9849	Meniere's disease		ISO	RGD:1625089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9970	obesity		IEP		D	RGD:329951013|PMID:32420297	20230707	RGD		mRNA:increased expression:pancreas	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9970	obesity		IEP		D	RGD:329951016|PMID:35945320	20230707	RGD		mRNA, protein:increased expression:liver	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9970	obesity		ISO	RGD:1625089	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17496892|PMID:19079260|PMID:19079261|PMID:19151714|PMID:19918250|PMID:21076408
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9970	obesity		ISO	RGD:1625089	D	RGD:329812007|PMID:23134754	20230519	RGD		DNA:SNP:intron:rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9970	obesity		ISO	RGD:1625089	D	RGD:329812010|PMID:23111453	20230519	RGD		DNA:SNP: :rs9939609 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9970	obesity		ISO	RGD:1625089	D	RGD:329812040|PMID:21919686	20230522	RGD		DNA:SNP:intron:rs17817449 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9970	obesity		ISO	RGD:1625089	D	RGD:329845887|PMID:29540276	20230605	RGD		DNA:SNPs: :rs9939609, rs1421085, rs17817449  (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9970	obesity		ISO	RGD:1625089	D	RGD:329901774|PMID:25606423	20230623	RGD		DNA:SNP: :rs3751812 (human)	
1305121	Fto	FTO, alpha-ketoglutarate dependent dioxygenase	gene	DOID:9970	obesity	severity	ISO	RGD:1625089	D	RGD:329812016|PMID:31801409	20230522	RGD			
1305123	Tbrg1	transforming growth factor beta regulator 1	gene	DOID:1059	intellectual disability		ISO	RGD:1312969	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	
1305123	Tbrg1	transforming growth factor beta regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305123	Tbrg1	transforming growth factor beta regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305123	Tbrg1	transforming growth factor beta regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305123	Tbrg1	transforming growth factor beta regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305123	Tbrg1	transforming growth factor beta regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305124	Cilp	cartilage intermediate layer protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305124	Cilp	cartilage intermediate layer protein	gene	DOID:10534	stomach cancer		ISO	RGD:1312971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305124	Cilp	cartilage intermediate layer protein	gene	DOID:419	scleroderma		ISO	RGD:1312971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scleroderma	PMID:25741868
1305124	Cilp	cartilage intermediate layer protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305124	Cilp	cartilage intermediate layer protein	gene	DOID:8398	osteoarthritis	disease_progression	ISO	RGD:1312971	D	RGD:1625347|PMID:15334463	20070604	RGD			
1305124	Cilp	cartilage intermediate layer protein	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:1312971	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: marker/mechanism	
1305124	Cilp	cartilage intermediate layer protein	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:1312971	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: CILP-related condition	
1305124	Cilp	cartilage intermediate layer protein	gene	DOID:9000585	Intervertebral Disc Disease	susceptibility	ISO	RGD:1312971	D	RGD:7240710	20230505	OMIM			
1305124	Cilp	cartilage intermediate layer protein	gene	DOID:9002589	Bone Fractures		ISO	RGD:1312971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868
1305125	Atl2	atlastin GTPase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305125	Atl2	atlastin GTPase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305125	Atl2	atlastin GTPase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312973	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305125	Atl2	atlastin GTPase 2	gene	DOID:1115	sarcoma		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305125	Atl2	atlastin GTPase 2	gene	DOID:1324	lung cancer		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305125	Atl2	atlastin GTPase 2	gene	DOID:1909	melanoma		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305125	Atl2	atlastin GTPase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305125	Atl2	atlastin GTPase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305125	Atl2	atlastin GTPase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305125	Atl2	atlastin GTPase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305125	Atl2	atlastin GTPase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305126	Kif21a	kinesin family member 21A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305126	Kif21a	kinesin family member 21A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305126	Kif21a	kinesin family member 21A	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	
1305126	Kif21a	kinesin family member 21A	gene	DOID:0080143	congenital fibrosis of the extraocular muscles		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: congenital fibrosis of extraocular muscles	PMID:25741868
1305126	Kif21a	kinesin family member 21A	gene	DOID:0080143	congenital fibrosis of the extraocular muscles		ISS	RGD:1312975	D	RGD:13592920	20180518	MouseDO		OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219	
1305126	Kif21a	kinesin family member 21A	gene	DOID:0080600	COVID-19		ISO	RGD:1312975	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305126	Kif21a	kinesin family member 21A	gene	DOID:0081015	congenital fibrosis of the extraocular muscles 1		ISO	RGD:1312975	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305126	Kif21a	kinesin family member 21A	gene	DOID:0081015	congenital fibrosis of the extraocular muscles 1		ISO	RGD:1312975	D	RGD:1600402|PMID:14595441	20070307	RGD		DNA:missense mutation:CDS:2860C>T (p.R954W) (human)	
1305126	Kif21a	kinesin family member 21A	gene	DOID:0081015	congenital fibrosis of the extraocular muscles 1		ISO	RGD:1312975	D	RGD:7240710	20151028	OMIM			
1305126	Kif21a	kinesin family member 21A	gene	DOID:0081015	congenital fibrosis of the extraocular muscles 1		ISO	RGD:1312975	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 | ClinVar Annotator: match by term: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b | ClinVar Annotator: match by term: KIF21A-related condition	PMID:14595441|PMID:15223798|PMID:16157808|PMID:25741868|PMID:28492532|PMID:36494820
1305126	Kif21a	kinesin family member 21A	gene	DOID:10534	stomach cancer		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305126	Kif21a	kinesin family member 21A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305126	Kif21a	kinesin family member 21A	gene	DOID:11836	clubfoot		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	
1305126	Kif21a	kinesin family member 21A	gene	DOID:12271	aniridia		ISO	RGD:1312975	D	RGD:8554872	20160308	ClinVar		ClinVar Annotator: match by term: Congenital aniridia	PMID:26893459
1305126	Kif21a	kinesin family member 21A	gene	DOID:1324	lung cancer		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305126	Kif21a	kinesin family member 21A	gene	DOID:1909	melanoma		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305126	Kif21a	kinesin family member 21A	gene	DOID:3275	thymoma		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305126	Kif21a	kinesin family member 21A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305126	Kif21a	kinesin family member 21A	gene	DOID:4362	cervical cancer		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305126	Kif21a	kinesin family member 21A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305126	Kif21a	kinesin family member 21A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305126	Kif21a	kinesin family member 21A	gene	DOID:5041	esophageal cancer		ISO	RGD:1312975	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305126	Kif21a	kinesin family member 21A	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1312975	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1305126	Kif21a	kinesin family member 21A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305126	Kif21a	kinesin family member 21A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305126	Kif21a	kinesin family member 21A	gene	DOID:630	genetic disease		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1305126	Kif21a	kinesin family member 21A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1305126	Kif21a	kinesin family member 21A	gene	DOID:9000807	Megaduodenum		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megacystis	
1305126	Kif21a	kinesin family member 21A	gene	DOID:9001031	Retrognathia		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
1305126	Kif21a	kinesin family member 21A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1305126	Kif21a	kinesin family member 21A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305126	Kif21a	kinesin family member 21A	gene	DOID:9008214	Genu Valgum		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	
1305126	Kif21a	kinesin family member 21A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1305126	Kif21a	kinesin family member 21A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305126	Kif21a	kinesin family member 21A	gene	DOID:9256	colorectal cancer		ISO	RGD:1312975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305127	Txnl4b	thioredoxin-like 4B	gene	DOID:10534	stomach cancer		ISO	RGD:1344635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305127	Txnl4b	thioredoxin-like 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1344635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305127	Txnl4b	thioredoxin-like 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305128	Polg2	DNA polymerase gamma 2, accessory subunit	gene	DOID:0070446	mitochondrial DNA depletion syndrome 16		ISO	RGD:1312978	D	RGD:7240710	20190904	OMIM			
1305128	Polg2	DNA polymerase gamma 2, accessory subunit	gene	DOID:0070447	mitochondrial DNA depletion syndrome 16B		ISO	RGD:1312978	D	RGD:7240710	20210825	OMIM			
1305128	Polg2	DNA polymerase gamma 2, accessory subunit	gene	DOID:0111525	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4		ISO	RGD:1312978	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305128	Polg2	DNA polymerase gamma 2, accessory subunit	gene	DOID:0111525	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4		ISO	RGD:1312978	D	RGD:7240710	20130221	OMIM			
1305128	Polg2	DNA polymerase gamma 2, accessory subunit	gene	DOID:0111525	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4		ISO	RGD:1312978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	PMID:25741868
1305128	Polg2	DNA polymerase gamma 2, accessory subunit	gene	DOID:12679	nephrocalcinosis		ISS	RGD:1312979	D	RGD:13592920	20211028	MouseDO			
1305128	Polg2	DNA polymerase gamma 2, accessory subunit	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1312979	D	RGD:8694187|PMID:22229649	20140728	RGD		mRNA,protein:decreased expression:retina,mitochondrion:	
1305129	Mamdc2	MAM domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305129	Mamdc2	MAM domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:1312980	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305129	Mamdc2	MAM domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:1312980	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305129	Mamdc2	MAM domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305129	Mamdc2	MAM domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1312980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305129	Mamdc2	MAM domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312980	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305129	Mamdc2	MAM domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305129	Mamdc2	MAM domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305129	Mamdc2	MAM domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1312980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305130	Zfp18	zinc finger protein 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305130	Zfp18	zinc finger protein 18	gene	DOID:3275	thymoma		ISO	RGD:1312982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305130	Zfp18	zinc finger protein 18	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305130	Zfp18	zinc finger protein 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1312982	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305130	Zfp18	zinc finger protein 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305130	Zfp18	zinc finger protein 18	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305130	Zfp18	zinc finger protein 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305130	Zfp18	zinc finger protein 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305130	Zfp18	zinc finger protein 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305132	Klhdc8a	kelch domain containing 8A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305132	Klhdc8a	kelch domain containing 8A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605377	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305132	Klhdc8a	kelch domain containing 8A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305133	Mphosph8	M-phase phosphoprotein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305133	Mphosph8	M-phase phosphoprotein 8	gene	DOID:10534	stomach cancer		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305133	Mphosph8	M-phase phosphoprotein 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305133	Mphosph8	M-phase phosphoprotein 8	gene	DOID:1115	sarcoma		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305133	Mphosph8	M-phase phosphoprotein 8	gene	DOID:4362	cervical cancer		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305133	Mphosph8	M-phase phosphoprotein 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1603305	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305133	Mphosph8	M-phase phosphoprotein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305133	Mphosph8	M-phase phosphoprotein 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305133	Mphosph8	M-phase phosphoprotein 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305133	Mphosph8	M-phase phosphoprotein 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305135	Palm2akap2	PALM2 and AKAP2 fusion	gene	DOID:10283	prostate cancer		ISO	RGD:1603446	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305135	Palm2akap2	PALM2 and AKAP2 fusion	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305135	Palm2akap2	PALM2 and AKAP2 fusion	gene	DOID:9004657	Weight Gain		ISO	RGD:2308242	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1305135	Palm2akap2	PALM2 and AKAP2 fusion	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305137	Med25	mediator complex subunit 25	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1347126	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:16199547|PMID:17576681|PMID:25488817|PMID:25527630|PMID:25741868|PMID:26257172|PMID:28492532|PMID:30039206|PMID:30800049|PMID:9536098
1305137	Med25	mediator complex subunit 25	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:16199547|PMID:17576681|PMID:25527630|PMID:25741868|PMID:26257172|PMID:28170084|PMID:28492532|PMID:30039206|PMID:30800049|PMID:31602195|PMID:32324310|PMID:32371413|PMID:32376792|PMID:37091313|PMID:9536098
1305137	Med25	mediator complex subunit 25	gene	DOID:0050581	brachydactyly		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:26257172|PMID:28492532|PMID:30039206|PMID:37091313
1305137	Med25	mediator complex subunit 25	gene	DOID:0110179	Charcot-Marie-Tooth disease type 2B2		ISO	RGD:1347126	D	RGD:11554173	20200526	CTD		CTD Direct Evidence: marker/mechanism	
1305137	Med25	mediator complex subunit 25	gene	DOID:0110179	Charcot-Marie-Tooth disease type 2B2		ISO	RGD:1347126	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B2	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32324310|PMID:32371413|PMID:37091313|PMID:9536098
1305137	Med25	mediator complex subunit 25	gene	DOID:10534	stomach cancer		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305137	Med25	mediator complex subunit 25	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868|PMID:26257172|PMID:28492532|PMID:30039206|PMID:32376792|PMID:37091313
1305137	Med25	mediator complex subunit 25	gene	DOID:1324	lung cancer		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305137	Med25	mediator complex subunit 25	gene	DOID:1389	polyneuropathy		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:28492532
1305137	Med25	mediator complex subunit 25	gene	DOID:1596	depressive disorder		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25527630|PMID:28492532
1305137	Med25	mediator complex subunit 25	gene	DOID:1826	epilepsy		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25527630|PMID:28492532
1305137	Med25	mediator complex subunit 25	gene	DOID:1909	melanoma		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305137	Med25	mediator complex subunit 25	gene	DOID:2030	anxiety disorder		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25527630|PMID:28492532
1305137	Med25	mediator complex subunit 25	gene	DOID:3275	thymoma		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305137	Med25	mediator complex subunit 25	gene	DOID:4362	cervical cancer		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305137	Med25	mediator complex subunit 25	gene	DOID:5041	esophageal cancer		ISO	RGD:1347126	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305137	Med25	mediator complex subunit 25	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305137	Med25	mediator complex subunit 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305137	Med25	mediator complex subunit 25	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305137	Med25	mediator complex subunit 25	gene	DOID:630	genetic disease		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305137	Med25	mediator complex subunit 25	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305137	Med25	mediator complex subunit 25	gene	DOID:9001510	Funnel Chest		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:26257172|PMID:28492532|PMID:30039206|PMID:37091313
1305137	Med25	mediator complex subunit 25	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1347126	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1305137	Med25	mediator complex subunit 25	gene	DOID:9005442	Basel-Vanagaite-Smirin-Yosef syndrome		ISO	RGD:1347126	D	RGD:7240710	20170301	OMIM			
1305137	Med25	mediator complex subunit 25	gene	DOID:9005442	Basel-Vanagaite-Smirin-Yosef syndrome		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME | ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome | ClinVar Annotator: match by term: Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	PMID:25527630|PMID:25741868|PMID:25792360|PMID:28170084|PMID:28492532|PMID:30800049|PMID:31602195|PMID:32324310|PMID:32371413|PMID:32376792|PMID:32816121|PMID:37091313
1305137	Med25	mediator complex subunit 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305137	Med25	mediator complex subunit 25	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:26257172|PMID:28492532|PMID:30039206|PMID:32324310|PMID:32371413|PMID:37091313
1305137	Med25	mediator complex subunit 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305138	Slc61a1	solute carrier family 61 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305138	Slc61a1	solute carrier family 61 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305139	Zfp281	zinc finger protein 281	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305139	Zfp281	zinc finger protein 281	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305140	Dcaf7	DDB1 and CUL4 associated factor 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305140	Dcaf7	DDB1 and CUL4 associated factor 7	gene	DOID:0080798	myeloid leukemia associated with Down Syndrome		ISO	RGD:1604053	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056718
1305140	Dcaf7	DDB1 and CUL4 associated factor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1604053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305140	Dcaf7	DDB1 and CUL4 associated factor 7	gene	DOID:1115	sarcoma		ISO	RGD:1604053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305140	Dcaf7	DDB1 and CUL4 associated factor 7	gene	DOID:1909	melanoma		ISO	RGD:1604053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305140	Dcaf7	DDB1 and CUL4 associated factor 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1604053	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305140	Dcaf7	DDB1 and CUL4 associated factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305140	Dcaf7	DDB1 and CUL4 associated factor 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305140	Dcaf7	DDB1 and CUL4 associated factor 7	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1604053	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
1305141	Wdr45b	WD repeat domain 45B	gene	DOID:10534	stomach cancer		ISO	RGD:1350558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305141	Wdr45b	WD repeat domain 45B	gene	DOID:1059	intellectual disability		ISO	RGD:1350558	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1305141	Wdr45b	WD repeat domain 45B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305141	Wdr45b	WD repeat domain 45B	gene	DOID:1115	sarcoma		ISO	RGD:1350558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305141	Wdr45b	WD repeat domain 45B	gene	DOID:1324	lung cancer		ISO	RGD:1350558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1305141	Wdr45b	WD repeat domain 45B	gene	DOID:3275	thymoma		ISO	RGD:1350558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305141	Wdr45b	WD repeat domain 45B	gene	DOID:5041	esophageal cancer		ISO	RGD:1350558	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305141	Wdr45b	WD repeat domain 45B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305141	Wdr45b	WD repeat domain 45B	gene	DOID:630	genetic disease		ISO	RGD:1350558	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305141	Wdr45b	WD repeat domain 45B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305141	Wdr45b	WD repeat domain 45B	gene	DOID:9009173	Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures		ISO	RGD:1350558	D	RGD:7240710	20190315	OMIM			
1305141	Wdr45b	WD repeat domain 45B	gene	DOID:9009173	Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures		ISO	RGD:1350558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | ClinVar Annotator: match by term: WDR45B-related condition	PMID:25741868
1305141	Wdr45b	WD repeat domain 45B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:1115	sarcoma		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:1909	melanoma		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:3070	high grade glioma		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:3275	thymoma		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305142	Tbl3	transducin (beta)-like 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1313000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305143	Sdhaf3	succinate dehydrogenase complex assembly factor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305143	Sdhaf3	succinate dehydrogenase complex assembly factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305144	Rps6kb2	ribosomal protein S6 kinase B2	gene	DOID:10534	stomach cancer		ISO	RGD:1313003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305144	Rps6kb2	ribosomal protein S6 kinase B2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305144	Rps6kb2	ribosomal protein S6 kinase B2	gene	DOID:1115	sarcoma		ISO	RGD:1313003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305144	Rps6kb2	ribosomal protein S6 kinase B2	gene	DOID:1909	melanoma		ISO	RGD:1313003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305144	Rps6kb2	ribosomal protein S6 kinase B2	gene	DOID:4362	cervical cancer		ISO	RGD:1313003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305144	Rps6kb2	ribosomal protein S6 kinase B2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305144	Rps6kb2	ribosomal protein S6 kinase B2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305144	Rps6kb2	ribosomal protein S6 kinase B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305144	Rps6kb2	ribosomal protein S6 kinase B2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305144	Rps6kb2	ribosomal protein S6 kinase B2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1313003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1305144	Rps6kb2	ribosomal protein S6 kinase B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305144	Rps6kb2	ribosomal protein S6 kinase B2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313003	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953835
1305144	Rps6kb2	ribosomal protein S6 kinase B2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111474	combined oxidative phosphorylation deficiency 1		ISO	RGD:1605947	D	RGD:8554872	20180508	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 | ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	PMID:25741868
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111485	combined oxidative phosphorylation deficiency 24		ISO	RGD:1605947	D	RGD:7240710	20170301	OMIM			
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111485	combined oxidative phosphorylation deficiency 24		ISO	RGD:1605947	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 24	PMID:25741868|PMID:25807530|PMID:26467025|PMID:28077841|PMID:28492532|PMID:30327238|PMID:37838930
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111641	autosomal recessive nonsyndromic deafness 94		ISO	RGD:1605947	D	RGD:7240710	20190626	OMIM			
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111641	autosomal recessive nonsyndromic deafness 94		ISO	RGD:1605947	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 94	PMID:25741868|PMID:25807530|PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111641	autosomal recessive nonsyndromic deafness 94		ISO	RGD:1605947	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 94 | ClinVar Annotator: match by term: NARS2-related condition	PMID:17576681|PMID:25741868|PMID:25807530|PMID:26402642|PMID:28492532|PMID:9536098
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:1059	intellectual disability		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25807530|PMID:26402642|PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25807530|PMID:26402642|PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:11162	respiratory failure		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:11714	gestational diabetes		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:12849	autistic disorder		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic disorder	
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:1596	depressive disorder		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:1827	generalized epilepsy		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:3070	high grade glioma		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:543	dystonia		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: Paroxysmal dystonia	PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1605947	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1605947	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Mitochondrial disorder	
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:8741	seborrheic dermatitis		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seborrheic dermatitis	PMID:25741868
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9002049	Anophthalmia		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anophthalmia	PMID:25741868
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004538	Hearing Loss		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25807530|PMID:26402642|PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9256	colorectal cancer		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1305145	Nars2	asparaginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9970	obesity		ISO	RGD:1605947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25807530|PMID:26402642|PMID:28492532
1305146	Tmx4	thioredoxin-related transmembrane protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305146	Tmx4	thioredoxin-related transmembrane protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305146	Tmx4	thioredoxin-related transmembrane protein 4	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1603023	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:28492532|PMID:32733715
1305146	Tmx4	thioredoxin-related transmembrane protein 4	gene	DOID:3275	thymoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305146	Tmx4	thioredoxin-related transmembrane protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305146	Tmx4	thioredoxin-related transmembrane protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305146	Tmx4	thioredoxin-related transmembrane protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1603023	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305146	Tmx4	thioredoxin-related transmembrane protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305146	Tmx4	thioredoxin-related transmembrane protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305148	Marchf1	membrane associated ring-CH-type finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305148	Marchf1	membrane associated ring-CH-type finger 1	gene	DOID:0060058	lymphoma		ISO	RGD:1354489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305148	Marchf1	membrane associated ring-CH-type finger 1	gene	DOID:0080600	COVID-19		ISO	RGD:1354489	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305148	Marchf1	membrane associated ring-CH-type finger 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305148	Marchf1	membrane associated ring-CH-type finger 1	gene	DOID:1324	lung cancer		ISO	RGD:1354489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305148	Marchf1	membrane associated ring-CH-type finger 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305148	Marchf1	membrane associated ring-CH-type finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305149	Il15ra	interleukin 15 receptor subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1313009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305149	Il15ra	interleukin 15 receptor subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305149	Il15ra	interleukin 15 receptor subunit alpha	gene	DOID:1909	melanoma		ISO	RGD:1313009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305149	Il15ra	interleukin 15 receptor subunit alpha	gene	DOID:3275	thymoma		ISO	RGD:1313009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305149	Il15ra	interleukin 15 receptor subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1313009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305149	Il15ra	interleukin 15 receptor subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305149	Il15ra	interleukin 15 receptor subunit alpha	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1313009	D	RGD:153344586|PMID:35693827	20220829	RGD		mRNA:increased expression:liver (human)	
1305149	Il15ra	interleukin 15 receptor subunit alpha	gene	DOID:9001488	Human Influenza		ISO	RGD:1313010	D	RGD:4994196|PMID:21098221	20110728	RGD			
1305149	Il15ra	interleukin 15 receptor subunit alpha	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:1313010	D	RGD:5000755|PMID:17611121	20110728	RGD			
1305149	Il15ra	interleukin 15 receptor subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305149	Il15ra	interleukin 15 receptor subunit alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313009	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305151	B3gnt3	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305152	Itga10	integrin subunit alpha 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305152	Itga10	integrin subunit alpha 10	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:12262494	D	RGD:9068941	20240725	OMIA		Chondrodysplasia, disproportionate short-limbed, ITGA10-related'	PMID:24086591|PMID:27525650|PMID:37582787|PMID:7081383
1305154	Asb7	ankyrin repeat and SOCS box-containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305154	Asb7	ankyrin repeat and SOCS box-containing 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305154	Asb7	ankyrin repeat and SOCS box-containing 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1313017	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305154	Asb7	ankyrin repeat and SOCS box-containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305154	Asb7	ankyrin repeat and SOCS box-containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305154	Asb7	ankyrin repeat and SOCS box-containing 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:1115	sarcoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:1324	lung cancer		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1313018	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:1909	melanoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313018	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1313018	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305155	Adamtsl3	ADAMTS-like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305156	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305156	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:0070008	Seckel syndrome 10		ISO	RGD:1606915	D	RGD:7240710	20190315	OMIM			
1305156	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:0070008	Seckel syndrome 10		ISO	RGD:1606915	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: NSMCE2-related condition | ClinVar Annotator: match by term: SECKEL SYNDROME 10 | ClinVar Annotator: match by term: Seckel syndrome 10	PMID:25105364|PMID:25741868|PMID:26443207|PMID:28492532
1305156	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:2394	ovarian cancer		ISO	RGD:1606915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305156	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:2717	Bloom syndrome		ISS	RGD:1331905	D	RGD:13592920	20180518	MouseDO		OMIM:210900	
1305156	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305156	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1606915	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305156	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305156	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305156	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:9007661	Dwarfism		ISO	RGD:1606915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: short stature	
1305156	Nsmce2	NSE2 SUMO ligase component of SMC5/6 complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305157	Gask1a	golgi associated kinase 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305157	Gask1a	golgi associated kinase 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305157	Gask1a	golgi associated kinase 1A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305157	Gask1a	golgi associated kinase 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305157	Gask1a	golgi associated kinase 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305157	Gask1a	golgi associated kinase 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305157	Gask1a	golgi associated kinase 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305158	Smim8	small integral membrane protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305158	Smim8	small integral membrane protein 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305159	Wdr5	WD repeat domain 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305159	Wdr5	WD repeat domain 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305159	Wdr5	WD repeat domain 5	gene	DOID:1115	sarcoma		ISO	RGD:1349800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305159	Wdr5	WD repeat domain 5	gene	DOID:1324	lung cancer		ISO	RGD:1349800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305159	Wdr5	WD repeat domain 5	gene	DOID:1682	congenital heart disease		ISO	RGD:1349800	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Congenital Heart Disease	
1305159	Wdr5	WD repeat domain 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305159	Wdr5	WD repeat domain 5	gene	DOID:3070	high grade glioma		ISO	RGD:1349800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305159	Wdr5	WD repeat domain 5	gene	DOID:4362	cervical cancer		ISO	RGD:1349800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305159	Wdr5	WD repeat domain 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305159	Wdr5	WD repeat domain 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305159	Wdr5	WD repeat domain 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305159	Wdr5	WD repeat domain 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349800	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1305159	Wdr5	WD repeat domain 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:0050768	mitochondrial complex V (ATP synthase) deficiency nuclear type 1		ISO	RGD:1313025	D	RGD:7240710	20130221	OMIM			
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:0050768	mitochondrial complex V (ATP synthase) deficiency nuclear type 1		ISO	RGD:1313025	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATPAF2-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:1059	intellectual disability		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:10907	microcephaly		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:1826	epilepsy		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:3275	thymoma		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:9007373	Left Ventricular Outflow Obstruction		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular outflow tract obstruction	
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662
1305161	Atpaf2	ATP synthase mitochondrial F1 complex assembly factor 2	gene	DOID:930	orbital disease		ISO	RGD:1313025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436|PMID:34930662
1305162	Fam76a	family with sequence similarity 76, member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305162	Fam76a	family with sequence similarity 76, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305162	Fam76a	family with sequence similarity 76, member A	gene	DOID:2394	ovarian cancer		ISO	RGD:1604511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305162	Fam76a	family with sequence similarity 76, member A	gene	DOID:3275	thymoma		ISO	RGD:1604511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305162	Fam76a	family with sequence similarity 76, member A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305162	Fam76a	family with sequence similarity 76, member A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305162	Fam76a	family with sequence similarity 76, member A	gene	DOID:9256	colorectal cancer		ISO	RGD:1604511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305163	Irgm	immunity-related GTPase M	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1601797	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192919
1305163	Irgm	immunity-related GTPase M	gene	DOID:0110890	inflammatory bowel disease 19		ISO	RGD:1601797	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305163	Irgm	immunity-related GTPase M	gene	DOID:0110890	inflammatory bowel disease 19		ISO	RGD:1601797	D	RGD:7240710	20130731	OMIM			
1305163	Irgm	immunity-related GTPase M	gene	DOID:0110890	inflammatory bowel disease 19		ISO	RGD:1601797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IRGM-related condition	
1305163	Irgm	immunity-related GTPase M	gene	DOID:1115	sarcoma		ISO	RGD:1601797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305163	Irgm	immunity-related GTPase M	gene	DOID:399	tuberculosis		ISO	RGD:1601797	D	RGD:7240710	20230505	OMIM			
1305163	Irgm	immunity-related GTPase M	gene	DOID:8577	ulcerative colitis		ISO	RGD:1601797	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799
1305163	Irgm	immunity-related GTPase M	gene	DOID:8778	Crohn's disease		ISO	RGD:1601797	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17554261|PMID:18438406|PMID:19165925|PMID:21278745
1305163	Irgm	immunity-related GTPase M	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305164	Pdia2	protein disulfide isomerase family A, member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305164	Pdia2	protein disulfide isomerase family A, member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305164	Pdia2	protein disulfide isomerase family A, member 2	gene	DOID:1115	sarcoma		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305164	Pdia2	protein disulfide isomerase family A, member 2	gene	DOID:1324	lung cancer		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305164	Pdia2	protein disulfide isomerase family A, member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305164	Pdia2	protein disulfide isomerase family A, member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305164	Pdia2	protein disulfide isomerase family A, member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305164	Pdia2	protein disulfide isomerase family A, member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305164	Pdia2	protein disulfide isomerase family A, member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305164	Pdia2	protein disulfide isomerase family A, member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1313029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305165	Ranbp6	RAN binding protein 6	gene	DOID:1115	sarcoma		ISO	RGD:1313031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305165	Ranbp6	RAN binding protein 6	gene	DOID:1909	melanoma		ISO	RGD:1313031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305165	Ranbp6	RAN binding protein 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305165	Ranbp6	RAN binding protein 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1313031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305166	Tctn3	tectonic family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305166	Tctn3	tectonic family member 3	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1313033	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:22883145|PMID:25118024|PMID:25741868|PMID:26092869|PMID:2692869|PMID:28492532|PMID:35170189|PMID:37217489
1305166	Tctn3	tectonic family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305166	Tctn3	tectonic family member 3	gene	DOID:0060058	lymphoma		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305166	Tctn3	tectonic family member 3	gene	DOID:0060340	ciliopathy		ISO	RGD:1313033	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: ciliopathy	PMID:22883145|PMID:25118024|PMID:25741868|PMID:2692869|PMID:28492532
1305166	Tctn3	tectonic family member 3	gene	DOID:0060374	orofaciodigital syndrome IV		ISO	RGD:1313033	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305166	Tctn3	tectonic family member 3	gene	DOID:0060374	orofaciodigital syndrome IV		ISO	RGD:1313033	D	RGD:7240710	20150701	OMIM			
1305166	Tctn3	tectonic family member 3	gene	DOID:0060374	orofaciodigital syndrome IV		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MOHR-MAJEWSKI SYNDROME | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME IV | ClinVar Annotator: match by term: Orofacial-digital syndrome IV	PMID:16199547|PMID:22883145|PMID:24033266|PMID:25118024|PMID:25741868|PMID:26092869|PMID:2692869|PMID:28492532|PMID:35170189|PMID:37217489
1305166	Tctn3	tectonic family member 3	gene	DOID:0110987	Joubert Syndrome 18		ISO	RGD:1313033	D	RGD:7240710	20150701	OMIM			
1305166	Tctn3	tectonic family member 3	gene	DOID:0110987	Joubert Syndrome 18		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 18 | ClinVar Annotator: match by term: Joubert syndrome 18	PMID:16199547|PMID:17576681|PMID:22883145|PMID:25118024|PMID:25741868|PMID:26092869|PMID:2692869|PMID:28333917|PMID:28492532|PMID:35170189|PMID:37217489|PMID:9536098
1305166	Tctn3	tectonic family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305166	Tctn3	tectonic family member 3	gene	DOID:12849	autistic disorder		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1305166	Tctn3	tectonic family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305166	Tctn3	tectonic family member 3	gene	DOID:2843	long QT syndrome		ISO	RGD:1313033	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1305166	Tctn3	tectonic family member 3	gene	DOID:3275	thymoma		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305166	Tctn3	tectonic family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305166	Tctn3	tectonic family member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305166	Tctn3	tectonic family member 3	gene	DOID:630	genetic disease		ISO	RGD:1313033	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22883145|PMID:25118024|PMID:25741868|PMID:2692869|PMID:28492532
1305166	Tctn3	tectonic family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305166	Tctn3	tectonic family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305166	Tctn3	tectonic family member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1305167	Fsd2	fibronectin type III and SPRY domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1346005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305167	Fsd2	fibronectin type III and SPRY domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1346005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305167	Fsd2	fibronectin type III and SPRY domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346005	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305167	Fsd2	fibronectin type III and SPRY domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305167	Fsd2	fibronectin type III and SPRY domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305167	Fsd2	fibronectin type III and SPRY domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:126736038	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: GALNT12-related condition	PMID:28492532
1305168	Mcm3	minichromosome maintenance complex component 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305168	Mcm3	minichromosome maintenance complex component 3	gene	DOID:0060306	Meier-Gorlin syndrome		ISO	RGD:1313036	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Meier-Gorlin syndrome	PMID:25741868|PMID:33654309
1305168	Mcm3	minichromosome maintenance complex component 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305168	Mcm3	minichromosome maintenance complex component 3	gene	DOID:1115	sarcoma		ISO	RGD:1313036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305168	Mcm3	minichromosome maintenance complex component 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1313036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305168	Mcm3	minichromosome maintenance complex component 3	gene	DOID:3275	thymoma		ISO	RGD:1313036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305168	Mcm3	minichromosome maintenance complex component 3	gene	DOID:4362	cervical cancer		ISO	RGD:1313036	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305168	Mcm3	minichromosome maintenance complex component 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305168	Mcm3	minichromosome maintenance complex component 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305168	Mcm3	minichromosome maintenance complex component 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305168	Mcm3	minichromosome maintenance complex component 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305168	Mcm3	minichromosome maintenance complex component 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305169	Pank2	pantothenate kinase 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1313038	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:11479594|PMID:12510040|PMID:16023068|PMID:28492532
1305169	Pank2	pantothenate kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305169	Pank2	pantothenate kinase 2	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1313038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20629144
1305169	Pank2	pantothenate kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305169	Pank2	pantothenate kinase 2	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:26497376
1305169	Pank2	pantothenate kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305169	Pank2	pantothenate kinase 2	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1313038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16450344|PMID:17296847
1305169	Pank2	pantothenate kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1305169	Pank2	pantothenate kinase 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:11479594|PMID:12510040|PMID:16437574|PMID:25741868|PMID:28492532
1305169	Pank2	pantothenate kinase 2	gene	DOID:2367	neuroaxonal dystrophy		ISO	RGD:1313038	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neuroaxonal dystrophy, late infantile	PMID:11479594|PMID:12510040|PMID:15843062|PMID:15911822|PMID:16023068|PMID:16149094|PMID:16437574|PMID:16758184|PMID:17576681|PMID:23166001|PMID:24215330|PMID:24250886|PMID:25741868|PMID:26467025|PMID:28094106|PMID:28492532|PMID:28680084|PMID:29801903|PMID:35462688|PMID:37947042|PMID:9536098
1305169	Pank2	pantothenate kinase 2	gene	DOID:3981	pantothenate kinase-associated neurodegeneration		ISO	RGD:1313038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14580665
1305169	Pank2	pantothenate kinase 2	gene	DOID:3981	pantothenate kinase-associated neurodegeneration		ISO	RGD:1313038	D	RGD:7240710	20130221	OMIM			
1305169	Pank2	pantothenate kinase 2	gene	DOID:3981	pantothenate kinase-associated neurodegeneration		ISO	RGD:1313038	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HARP SYNDROME | ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1 | ClinVar Annotator: match by term: Pantothenate kinase-associated neurodegeneration | ClinVar Annotator: match by term: Pigmentary pallidal degeneration	PMID:11479594|PMID:12058097|PMID:12510040|PMID:12523119|PMID:12811783|PMID:1301187|PMID:14631201|PMID:14638969|PMID:14639680|PMID:14743358|PMID:15465096|PMID:15565311|PMID:15659606|PMID:15747360|PMID:15834858|PMID:15843062|PMID:15911822|PMID:16023068|PMID:16149094|PMID:16157712|PMID:16199547|PMID:16240131|PMID:16272150|PMID:16437574|PMID:16450344|PMID:16758184|PMID:16962235|PMID:17576681|PMID:17631502|PMID:17903678|PMID:18006953|PMID:18074375|PMID:18462962|PMID:19224615|PMID:20076801|PMID:20193558|PMID:20301663|PMID:20551478|PMID:20629144|PMID:20721927|PMID:20976082|PMID:21198414|PMID:21480873|PMID:21877312|PMID:22103354|PMID:22127788|PMID:22221393|PMID:22416811|PMID:22547525|PMID:22682757|PMID:23166001|PMID:23634310|PMID:23644322|PMID:23968566|PMID:24033266|PMID:24075960|PMID:24209433|PMID:24215330|PMID:24250886|PMID:24348190|PMID:24689511|PMID:24712887|PMID:24868354|PMID:25268133|PMID:25640679|PMID:25741868|PMID:25915509|PMID:26467025|PMID:26795593|PMID:26828213|PMID:27303611|PMID:27815806|PMID:28094106|PMID:28113101|PMID:28357202|PMID:28492532|PMID:28680084|PMID:28681788|PMID:28708303|PMID:28781879|PMID:28821231|PMID:28845923|PMID:28863176|PMID:28881514|PMID:29642163|PMID:29801903|PMID:30226968|PMID:30363610|PMID:30363918|PMID:3043782|PMID:30681573|PMID:31088771|PMID:31371123|PMID:31540697|PMID:32043823|PMID:32310012|PMID:32456086|PMID:32581362|PMID:32654475|PMID:32705819|PMID:32851917|PMID:33043782|PMID:33072517|PMID:33098801|PMID:33853092|PMID:34015165|PMID:34272103|PMID:35246191|PMID:35462688|PMID:36790591|PMID:37188304|PMID:37947042|PMID:38506547|PMID:39609877|PMID:9536098
1305169	Pank2	pantothenate kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305169	Pank2	pantothenate kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305169	Pank2	pantothenate kinase 2	gene	DOID:543	dystonia		ISO	RGD:1313038	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder	PMID:11479594|PMID:12058097|PMID:12510040|PMID:1734303|PMID:25741868|PMID:28492532|PMID:32581362|PMID:39825153
1305169	Pank2	pantothenate kinase 2	gene	DOID:5723	optic atrophy		ISO	RGD:1313038	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1305169	Pank2	pantothenate kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305169	Pank2	pantothenate kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23634310|PMID:24712887|PMID:25741868|PMID:28492532
1305169	Pank2	pantothenate kinase 2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1313038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20493851
1305169	Pank2	pantothenate kinase 2	gene	DOID:9004866	Ataxia		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:11479594|PMID:12510040|PMID:16437574|PMID:25741868|PMID:28492532
1305169	Pank2	pantothenate kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305169	Pank2	pantothenate kinase 2	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1313038	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: walking difficulty	PMID:25741868|PMID:28492532|PMID:28881514
1305169	Pank2	pantothenate kinase 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:11479594|PMID:12510040|PMID:16437574|PMID:25741868|PMID:28492532
1305169	Pank2	pantothenate kinase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11479594|PMID:12510040|PMID:16437574|PMID:25741868|PMID:28492532
1305169	Pank2	pantothenate kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305170	Cpn2	carboxypeptidase N subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305170	Cpn2	carboxypeptidase N subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305172	Snapc3	small nuclear RNA activating complex, polypeptide 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305172	Snapc3	small nuclear RNA activating complex, polypeptide 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305172	Snapc3	small nuclear RNA activating complex, polypeptide 3	gene	DOID:4362	cervical cancer		ISO	RGD:1313043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305172	Snapc3	small nuclear RNA activating complex, polypeptide 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305172	Snapc3	small nuclear RNA activating complex, polypeptide 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305172	Snapc3	small nuclear RNA activating complex, polypeptide 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305172	Snapc3	small nuclear RNA activating complex, polypeptide 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:0051044	infantile-onset myofibrillar myopathy 12 with cardiomyopathy		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	PMID:25741868
1305173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:1324	lung cancer		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:4362	cervical cancer		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305173	Gtf3c5	general transcription factor IIIC subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305174	Magoh	mago homolog, exon junction complex subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305174	Magoh	mago homolog, exon junction complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305174	Magoh	mago homolog, exon junction complex subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305174	Magoh	mago homolog, exon junction complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305174	Magoh	mago homolog, exon junction complex subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305174	Magoh	mago homolog, exon junction complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305176	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305176	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305176	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305176	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305176	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305176	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305176	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305176	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605417	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305176	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305176	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305176	Dcaf1	DDB1 and CUL4 associated factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305177	Lctl	lactase-like	gene	DOID:6039	uveal melanoma		ISO	RGD:1602287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305177	Lctl	lactase-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305177	Lctl	lactase-like	gene	DOID:9256	colorectal cancer		ISO	RGD:126736038	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:28492532
1305178	C3h9orf78	similar to human chromosome 9 open reading frame 78	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305178	C3h9orf78	similar to human chromosome 9 open reading frame 78	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305178	C3h9orf78	similar to human chromosome 9 open reading frame 78	gene	DOID:10534	stomach cancer		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305178	C3h9orf78	similar to human chromosome 9 open reading frame 78	gene	DOID:1324	lung cancer		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305178	C3h9orf78	similar to human chromosome 9 open reading frame 78	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305178	C3h9orf78	similar to human chromosome 9 open reading frame 78	gene	DOID:3275	thymoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305178	C3h9orf78	similar to human chromosome 9 open reading frame 78	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305178	C3h9orf78	similar to human chromosome 9 open reading frame 78	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305178	C3h9orf78	similar to human chromosome 9 open reading frame 78	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305178	C3h9orf78	similar to human chromosome 9 open reading frame 78	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305178	C3h9orf78	similar to human chromosome 9 open reading frame 78	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305179	N4bp1	Nedd4 binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305179	N4bp1	Nedd4 binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305179	N4bp1	Nedd4 binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305179	N4bp1	Nedd4 binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1605706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305179	N4bp1	Nedd4 binding protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1605706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305179	N4bp1	Nedd4 binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1605706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305179	N4bp1	Nedd4 binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305179	N4bp1	Nedd4 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305179	N4bp1	Nedd4 binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305179	N4bp1	Nedd4 binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305179	N4bp1	Nedd4 binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305179	N4bp1	Nedd4 binding protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1605706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:151790784	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:28492532|PMID:29845577
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1313054	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1313054	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305180	Pbxip1	PBX homeobox interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:0050432	Asperger syndrome	susceptibility	ISO	RGD:1313056	D	RGD:13628740|PMID:24679184	20180621	RGD		DNA:SNP: :rs6716901(human)	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:0050696	fetal alcohol spectrum disorder	treatment	IEP		D	RGD:13432044|PMID:23763370	20240626	RGD			
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313056	D	RGD:13628738|PMID:18180767	20180621	RGD		mRNA:increased expression:prefrontal cortex	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313056	D	RGD:8554872	20161011	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:0060041	autism spectrum disorder	no_association	ISO	RGD:1313056	D	RGD:13628739|PMID:17151801	20180621	RGD			
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:0080349	developmental and epileptic encephalopathy 39		ISO	RGD:1313056	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:0080349	developmental and epileptic encephalopathy 39		ISO	RGD:1313056	D	RGD:7240710	20130731	OMIM			
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:0080349	developmental and epileptic encephalopathy 39		ISO	RGD:1313056	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 | ClinVar Annotator: match by term: SLC25A12-related condition	PMID:17576681|PMID:24515575|PMID:25741868|PMID:28492532|PMID:34052969|PMID:9536098
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:0080349	developmental and epileptic encephalopathy 39		ISS	RGD:1313057	D	RGD:13592920	20230718	MouseDO		OMIM:612949	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1313056	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:25741868
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:10534	stomach cancer		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:1059	intellectual disability		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17576681|PMID:28492532|PMID:9536098
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:12849	autistic disorder		ISO	RGD:1313056	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15056512|PMID:18348195
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:1313056	D	RGD:1358576|PMID:15056512	19990101	RGD		DNA:snps:introns:IVS3-21A>G (rs2056202), IVS16+70A>G (rs2292813) (human)	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:1826	epilepsy		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17576681|PMID:28492532|PMID:9536098
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:1909	melanoma		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1313056	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:630	genetic disease		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:31766059|PMID:35008954
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1313056	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12833524
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:9003507	Premature Birth		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:9007661	Dwarfism		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
1305181	Slc25a12	solute carrier family 25 member 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305182	Col8a2	collagen type VIII alpha 2 chain	gene	DOID:0110856	posterior polymorphous corneal dystrophy 2		ISO	RGD:1313058	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305182	Col8a2	collagen type VIII alpha 2 chain	gene	DOID:0110856	posterior polymorphous corneal dystrophy 2		ISO	RGD:1313058	D	RGD:7240710	20130221	OMIM			
1305182	Col8a2	collagen type VIII alpha 2 chain	gene	DOID:0110856	posterior polymorphous corneal dystrophy 2		ISO	RGD:1313058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COL8A2-related condition | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 2 | ClinVar Annotator: match by term: posterior polymorphous corneal dystrophy 2	PMID:25741868|PMID:28492532
1305182	Col8a2	collagen type VIII alpha 2 chain	gene	DOID:11555	Fuchs' endothelial dystrophy		ISS	RGD:1313059	D	RGD:13592920	20180518	MouseDO		OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523	
1305182	Col8a2	collagen type VIII alpha 2 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305182	Col8a2	collagen type VIII alpha 2 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305182	Col8a2	collagen type VIII alpha 2 chain	gene	DOID:630	genetic disease		ISO	RGD:1313058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305182	Col8a2	collagen type VIII alpha 2 chain	gene	DOID:9000137	Corneal Dystrophy, Fuchs' Endothelial, 1		ISO	RGD:1313058	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305182	Col8a2	collagen type VIII alpha 2 chain	gene	DOID:9000137	Corneal Dystrophy, Fuchs' Endothelial, 1		ISO	RGD:1313058	D	RGD:7240710	20130221	OMIM			
1305182	Col8a2	collagen type VIII alpha 2 chain	gene	DOID:9000137	Corneal Dystrophy, Fuchs' Endothelial, 1		ISO	RGD:1313058	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 | ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 1	PMID:25741868
1305182	Col8a2	collagen type VIII alpha 2 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1313064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:0112341	hereditary spastic paraplegia 80		ISO	RGD:1313064	D	RGD:7240710	20190911	OMIM			
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:0112341	hereditary spastic paraplegia 80		ISO	RGD:1313064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant | ClinVar Annotator: match by term: UBAP1-related condition	PMID:25741868|PMID:25741869|PMID:31203368|PMID:31515522|PMID:31696996
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:0112341	hereditary spastic paraplegia 80		ISS	RGD:1313065	D	RGD:13592920	20230718	MouseDO		OMIM:618418	
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1313064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1313064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313064	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:630	genetic disease		ISO	RGD:1313064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305186	Ubap1	ubiquitin-associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305188	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:1115	sarcoma		ISO	RGD:1313067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305188	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1313067	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1305188	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:1324	lung cancer		ISO	RGD:1313067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305188	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:1909	melanoma		ISO	RGD:1313067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305188	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305188	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:6039	uveal melanoma		ISO	RGD:1313067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305188	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305188	Mgat5b	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305189	Parp3	poly (ADP-ribose) polymerase family, member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305189	Parp3	poly (ADP-ribose) polymerase family, member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305189	Parp3	poly (ADP-ribose) polymerase family, member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604647	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305189	Parp3	poly (ADP-ribose) polymerase family, member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305189	Parp3	poly (ADP-ribose) polymerase family, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305189	Parp3	poly (ADP-ribose) polymerase family, member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305189	Parp3	poly (ADP-ribose) polymerase family, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305189	Parp3	poly (ADP-ribose) polymerase family, member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305190	Slc25a51	solute carrier family 25, member 51	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305190	Slc25a51	solute carrier family 25, member 51	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305190	Slc25a51	solute carrier family 25, member 51	gene	DOID:1324	lung cancer		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305190	Slc25a51	solute carrier family 25, member 51	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305190	Slc25a51	solute carrier family 25, member 51	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305190	Slc25a51	solute carrier family 25, member 51	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1313072	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:1909	melanoma		ISO	RGD:1313072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:1313072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:3275	thymoma		ISO	RGD:1313072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1313072	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305191	Kifap3	kinesin-associated protein 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1313072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:10534	stomach cancer		ISO	RGD:1313074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:1115	sarcoma		ISO	RGD:1313074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:4362	cervical cancer		ISO	RGD:1313074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:5041	esophageal cancer		ISO	RGD:1313074	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:9008279	Progressive Familial Intrahepatic Cholestasis 11		ISO	RGD:1313074	D	RGD:7240710	20220518	OMIM			
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:9008279	Progressive Familial Intrahepatic Cholestasis 11		ISO	RGD:1313074	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 11	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305192	Sema7a	semaphorin 7A (John Milton Hagen blood group)	gene	DOID:9256	colorectal cancer		ISO	RGD:1313074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:0060903	thrombosis		ISO	RGD:1313078	D	RGD:11059524|PMID:9845553	20160415	RGD			
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:0060929	non-syndromic X-linked intellectual developmental disorder 111		ISO	RGD:1313077	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 111	PMID:25741868|PMID:27667160|PMID:28492532|PMID:29484404|PMID:30198572|PMID:32581362|PMID:34553410|PMID:35638908|PMID:37400730|PMID:7646993|PMID:8844207
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:0061026	hereditary pyropoikilocytosis		ISO	RGD:1313077	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:0061026	hereditary pyropoikilocytosis		ISO	RGD:1313077	D	RGD:7240710	20130221	OMIM			
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:0061026	hereditary pyropoikilocytosis		ISO	RGD:1313077	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PYROPOIKILOCYTOSIS, HEREDITARY | ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary	PMID:15384986|PMID:1541680|PMID:18218854|PMID:18815189|PMID:2346729|PMID:24033266|PMID:25741868|PMID:26002053|PMID:27292444|PMID:27667160|PMID:28492532|PMID:29484404|PMID:30198572|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31364155|PMID:31723846|PMID:32266426|PMID:32436265|PMID:32581362|PMID:33074880|PMID:34553410|PMID:35638908|PMID:36920900|PMID:37400730|PMID:6236232|PMID:7074218|PMID:7646993|PMID:8844207|PMID:8941647|PMID:9192783|PMID:9746802
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:0110916	hereditary spherocytosis type 1		ISS	RGD:1313078	D	RGD:13592920	20180518	MouseDO		OMIM:182900	
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:0110918	hereditary spherocytosis type 3		ISO	RGD:1313077	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:0110918	hereditary spherocytosis type 3		ISO	RGD:1313077	D	RGD:7240710	20130221	OMIM			
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:0110918	hereditary spherocytosis type 3		ISO	RGD:1313077	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis type 3	PMID:15384986|PMID:1541680|PMID:18218854|PMID:18815189|PMID:24033266|PMID:25741868|PMID:26002053|PMID:27292444|PMID:27667160|PMID:28492532|PMID:29484404|PMID:30198572|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31364155|PMID:31723846|PMID:32266426|PMID:32436265|PMID:32581362|PMID:33074880|PMID:34553410|PMID:35638908|PMID:36920900|PMID:37400730|PMID:7646993|PMID:8844207|PMID:8941647|PMID:9192783
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:0110918	hereditary spherocytosis type 3		ISS	RGD:1313078	D	RGD:13592920	20230718	MouseDO		OMIM:270970	
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:10923	sickle cell anemia		ISS	RGD:1313078	D	RGD:13592920	20180518	MouseDO		OMIM:603903	
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:1115	sarcoma		ISO	RGD:1313077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1313077	D	RGD:11059521|PMID:15384986	20160415	RGD		DNA:polymorphisms:introns,exon:	
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1313077	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive	PMID:15384986|PMID:24033266|PMID:25741868|PMID:27292444|PMID:28492532|PMID:30976395|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31723846|PMID:8941647
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1313077	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis	PMID:15384986|PMID:18218854|PMID:18815189|PMID:23974198|PMID:24033266|PMID:25741868|PMID:27292444|PMID:27667160|PMID:2794061|PMID:28492532|PMID:31038472|PMID:31130284|PMID:31147440|PMID:31333484|PMID:31364155|PMID:31539204|PMID:31723846|PMID:32436265|PMID:32641076|PMID:32751168|PMID:37400730|PMID:41020088|PMID:8857939|PMID:8941647
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1313078	D	RGD:11059522|PMID:11920196	20160415	RGD		DNA:deletion:cds:	
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1313077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:1909	melanoma		ISO	RGD:1313077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:2355	anemia		ISO	RGD:1313077	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:31038472|PMID:31723846|PMID:32581362
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:2373	hereditary elliptocytosis		ISO	RGD:1313078	D	RGD:11059523|PMID:11154235	20160415	RGD		DNA:insertion:intron:	
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:3275	thymoma		ISO	RGD:1313077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:583	hemolytic anemia		ISO	RGD:1313077	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:25741868|PMID:27667160|PMID:28492532|PMID:29484404|PMID:30198572|PMID:32581362|PMID:34553410|PMID:35638908|PMID:37400730|PMID:7646993|PMID:8844207
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:9000941	Elliptocytosis 2		ISO	RGD:1313077	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:9000941	Elliptocytosis 2		ISO	RGD:1313077	D	RGD:7240710	20130221	OMIM			
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:9000941	Elliptocytosis 2		ISO	RGD:1313077	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ELLIPTOCYTOSIS 2 | ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE | ClinVar Annotator: match by term: Elliptocytosis 2	PMID:15384986|PMID:1541680|PMID:18218854|PMID:18783249|PMID:18815189|PMID:19593814|PMID:23974198|PMID:24033266|PMID:25741868|PMID:26002053|PMID:27292444|PMID:27667160|PMID:2794061|PMID:28492532|PMID:29484404|PMID:29729090|PMID:30198572|PMID:31038472|PMID:31130284|PMID:31147440|PMID:31333484|PMID:31364155|PMID:31539204|PMID:31723846|PMID:32266426|PMID:32436265|PMID:32581362|PMID:32641076|PMID:32751168|PMID:33074880|PMID:34553410|PMID:35638908|PMID:36920900|PMID:37400730|PMID:38069343|PMID:41020088|PMID:7646993|PMID:8844207|PMID:8857939|PMID:8941647|PMID:9192783
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1313077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868|PMID:28492532
1305194	Spta1	spectrin, alpha, erythrocytic 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305195	Rbm11	RNA binding motif protein 11	gene	DOID:1324	lung cancer		ISO	RGD:1313079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305195	Rbm11	RNA binding motif protein 11	gene	DOID:1909	melanoma		ISO	RGD:1313079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305195	Rbm11	RNA binding motif protein 11	gene	DOID:4362	cervical cancer		ISO	RGD:1313079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305195	Rbm11	RNA binding motif protein 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305195	Rbm11	RNA binding motif protein 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305195	Rbm11	RNA binding motif protein 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305196	Jph2	junctophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1313081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
1305196	Jph2	junctophilin 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1313081	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:24033266|PMID:25500949|PMID:25741868|PMID:28492532|PMID:30235249|PMID:30615648|PMID:33673806
1305196	Jph2	junctophilin 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1313081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25500949|PMID:25741868|PMID:28492532|PMID:30235249|PMID:33673806
1305196	Jph2	junctophilin 2	gene	DOID:0081161	dilated cardiomyopathy 2E		ISO	RGD:1313081	D	RGD:7240710	20210908	OMIM			
1305196	Jph2	junctophilin 2	gene	DOID:0081161	dilated cardiomyopathy 2E		ISO	RGD:1313081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 2E | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2E	PMID:22584458|PMID:25741868|PMID:27471098|PMID:28492532|PMID:28771489|PMID:30384889|PMID:31227780|PMID:34036930|PMID:35838873
1305196	Jph2	junctophilin 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:11040048	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	
1305196	Jph2	junctophilin 2	gene	DOID:0110308	hypertrophic cardiomyopathy 2		ISO	RGD:1313081	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2	
1305196	Jph2	junctophilin 2	gene	DOID:0110323	hypertrophic cardiomyopathy 17		ISO	RGD:1313081	D	RGD:7240710	20140911	OMIM			
1305196	Jph2	junctophilin 2	gene	DOID:0110323	hypertrophic cardiomyopathy 17		ISO	RGD:1313081	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 17 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 | ClinVar Annotator: match by term: JPH2-related condition	PMID:17476457|PMID:22584458|PMID:23757202|PMID:23973696|PMID:24033266|PMID:25333069|PMID:25741868|PMID:27471098|PMID:27532831|PMID:28492532|PMID:28771489|PMID:30384889|PMID:30531895|PMID:31227780
1305196	Jph2	junctophilin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:28492532
1305196	Jph2	junctophilin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305196	Jph2	junctophilin 2	gene	DOID:1115	sarcoma		ISO	RGD:1313081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:25741868|PMID:28492532
1305196	Jph2	junctophilin 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1313081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:17476457|PMID:17509612|PMID:17576681|PMID:22584458|PMID:23757202|PMID:23861362|PMID:23973696|PMID:24033266|PMID:25333069|PMID:25741868|PMID:26718681|PMID:27471098|PMID:27532831|PMID:28008999|PMID:28393127|PMID:28492532|PMID:28771489|PMID:30235249|PMID:30384889|PMID:30847666|PMID:31227780|PMID:32368696|PMID:32492895|PMID:32880476|PMID:33552729|PMID:33673806|PMID:33954932|PMID:34036930|PMID:34062390|PMID:35238659|PMID:35352813|PMID:37904629|PMID:9536098
1305196	Jph2	junctophilin 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1313081	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:17476457|PMID:17509612|PMID:17576681|PMID:22584458|PMID:23861362|PMID:23973696|PMID:24033266|PMID:25741868|PMID:26718681|PMID:27471098|PMID:28008999|PMID:28393127|PMID:28492532|PMID:28771489|PMID:30235249|PMID:30384889|PMID:30847666|PMID:31227780|PMID:32368696|PMID:32492895|PMID:32880476|PMID:33552729|PMID:33673806|PMID:33954932|PMID:34036930|PMID:35238659|PMID:35352813|PMID:37904629|PMID:9536098
1305196	Jph2	junctophilin 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1313081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:17476457|PMID:17509612|PMID:17576681|PMID:22584458|PMID:23757202|PMID:23861362|PMID:23973696|PMID:24033266|PMID:25333069|PMID:25741868|PMID:26718681|PMID:27471098|PMID:27532831|PMID:28008999|PMID:28393127|PMID:28492532|PMID:28771489|PMID:30235249|PMID:30384889|PMID:30847666|PMID:31227780|PMID:32368696|PMID:32880476|PMID:33552729|PMID:33673806|PMID:33954932|PMID:34036930|PMID:35238659|PMID:35352813|PMID:37904629|PMID:9536098
1305196	Jph2	junctophilin 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1313082	D	RGD:1580652|PMID:15541368	19990101	RGD			
1305196	Jph2	junctophilin 2	gene	DOID:11984	hypertrophic cardiomyopathy	disease_progression	IEP		D	RGD:6480270|PMID:20576937	20120320	RGD		protein:decreased expression:heart	
1305196	Jph2	junctophilin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1313081	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:28492532|PMID:30384889
1305196	Jph2	junctophilin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1313081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
1305196	Jph2	junctophilin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1313082	D	RGD:1580652|PMID:15541368	19990101	RGD			
1305196	Jph2	junctophilin 2	gene	DOID:1324	lung cancer		ISO	RGD:1313081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:28492532
1305196	Jph2	junctophilin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305196	Jph2	junctophilin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313081	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305196	Jph2	junctophilin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1305196	Jph2	junctophilin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1305196	Jph2	junctophilin 2	gene	DOID:9000006	Supraventricular Tachycardia		ISO	RGD:1313081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Supraventricular tachycardia	PMID:22584458|PMID:23834499|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28798025
1305196	Jph2	junctophilin 2	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1313081	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868|PMID:28492532|PMID:34814702
1305196	Jph2	junctophilin 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1313081	D	RGD:8554872	20181009	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	
1305197	Nrl	neural retina leucine zipper	gene	DOID:0061232	enhanced S-cone syndrome 2		ISO	RGD:1313083	D	RGD:7240710	20260203	OMIM			
1305197	Nrl	neural retina leucine zipper	gene	DOID:0061232	enhanced S-cone syndrome 2		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ENHANCED S-CONE SYNDROME 2	PMID:11694879|PMID:15591106|PMID:17335001|PMID:25412400|PMID:25741868|PMID:28341476|PMID:28492532|PMID:34906470
1305197	Nrl	neural retina leucine zipper	gene	DOID:0090059	enhanced S-cone syndrome		ISO	RGD:1313083	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Enhanced S-cone syndrome	PMID:11694879|PMID:15591106|PMID:25741868|PMID:27732723|PMID:28492532|PMID:31456290
1305197	Nrl	neural retina leucine zipper	gene	DOID:0090059	enhanced S-cone syndrome		ISS	RGD:1313084	D	RGD:13592920	20180518	MouseDO		OMIM:268100	
1305197	Nrl	neural retina leucine zipper	gene	DOID:0110397	retinitis pigmentosa 27		ISO	RGD:1313083	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305197	Nrl	neural retina leucine zipper	gene	DOID:0110397	retinitis pigmentosa 27		ISO	RGD:1313083	D	RGD:7240710	20141015	OMIM			
1305197	Nrl	neural retina leucine zipper	gene	DOID:0110397	retinitis pigmentosa 27		ISO	RGD:1313083	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NRL-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 27 | ClinVar Annotator: match by term: Retinitis pigmentosa 27 | ClinVar Annotator: match by term: retinitis pigmentosa 27	PMID:11385710|PMID:15591106|PMID:15994872|PMID:17335001|PMID:21981118|PMID:25741868|PMID:28106895|PMID:28492532
1305197	Nrl	neural retina leucine zipper	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313083	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10192380|PMID:12796249
1305197	Nrl	neural retina leucine zipper	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313083	D	RGD:1580991|PMID:11879142	19990101	RGD		DNA:missense mutation:cds:p.S50L (human)	
1305197	Nrl	neural retina leucine zipper	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313083	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15591106|PMID:17335001|PMID:23534816|PMID:25741868|PMID:27081294|PMID:27624628|PMID:28492532|PMID:29385733|PMID:34906470|PMID:35693422
1305197	Nrl	neural retina leucine zipper	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313083	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:15591106|PMID:17335001|PMID:23534816|PMID:25741868|PMID:27081294|PMID:28492532
1305197	Nrl	neural retina leucine zipper	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15591106|PMID:17335001|PMID:23534816|PMID:25741868|PMID:28492532|PMID:29385733|PMID:34906470|PMID:35693422
1305197	Nrl	neural retina leucine zipper	gene	DOID:630	genetic disease		ISO	RGD:1313083	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305197	Nrl	neural retina leucine zipper	gene	DOID:8466	retinal degeneration		ISO	RGD:1313083	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15591106
1305197	Nrl	neural retina leucine zipper	gene	DOID:8499	night blindness		ISO	RGD:1313083	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12796249|PMID:15591106
1305197	Nrl	neural retina leucine zipper	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11879142|PMID:15591106|PMID:17335|PMID:17335001|PMID:25741868|PMID:28492532|PMID:29385733|PMID:33691693|PMID:34906470|PMID:36819107
1305197	Nrl	neural retina leucine zipper	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Choroidal neovascularization	PMID:25741868|PMID:28492532|PMID:29385733
1305197	Nrl	neural retina leucine zipper	gene	DOID:9001386	Albinism		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:25741868|PMID:28492532|PMID:29385733
1305197	Nrl	neural retina leucine zipper	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:1313083	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Foveal hypoplasia	PMID:25741868|PMID:28492532|PMID:29385733
1305197	Nrl	neural retina leucine zipper	gene	DOID:9002843	Waardenburg Syndrome Type 2		ISO	RGD:1313083	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Waardenburg syndrome type 2	PMID:25741868|PMID:28492532
1305198	Meis2	Meis homeobox 2	gene	DOID:0050567	orofacial cleft		ISO	RGD:1313085	D	RGD:155598680|PMID:24678003	20221019	RGD		DNA:mutations, haplotype insufficiency: :	
1305198	Meis2	Meis homeobox 2	gene	DOID:0050567	orofacial cleft		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate	
1305198	Meis2	Meis homeobox 2	gene	DOID:0050591	tooth agenesis		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth agenesis	PMID:25741868
1305198	Meis2	Meis homeobox 2	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1313085	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:24678003|PMID:25741868|PMID:30291340
1305198	Meis2	Meis homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305198	Meis2	Meis homeobox 2	gene	DOID:0111697	cleft palate, cardiac defects, and intellectual disability		ISO	RGD:1313085	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305198	Meis2	Meis homeobox 2	gene	DOID:0111697	cleft palate, cardiac defects, and intellectual disability		ISO	RGD:1313085	D	RGD:7240710	20190315	OMIM			
1305198	Meis2	Meis homeobox 2	gene	DOID:0111697	cleft palate, cardiac defects, and intellectual disability		ISO	RGD:1313085	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | ClinVar Annotator: match by term: Cleft palate, cardiac defects, and mental retardation | ClinVar Annotator: match by term: MEIS2-related condition	PMID:17576681|PMID:25712757|PMID:25741868|PMID:27225850|PMID:28492532|PMID:30055086|PMID:30291340|PMID:30735726|PMID:32345733|PMID:33526774|PMID:39252126|PMID:9536098
1305198	Meis2	Meis homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305198	Meis2	Meis homeobox 2	gene	DOID:1059	intellectual disability		ISO	RGD:1313085	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Borderline intellectual disability	PMID:25741868
1305198	Meis2	Meis homeobox 2	gene	DOID:1067	open-angle glaucoma	susceptibility	ISO	RGD:1313085	D	RGD:155630591|PMID:29452408	20221020	RGD		DNA:SNP::rs28480457(human)	
1305198	Meis2	Meis homeobox 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305198	Meis2	Meis homeobox 2	gene	DOID:1115	sarcoma		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305198	Meis2	Meis homeobox 2	gene	DOID:1324	lung cancer		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305198	Meis2	Meis homeobox 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1305198	Meis2	Meis homeobox 2	gene	DOID:1909	melanoma		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305198	Meis2	Meis homeobox 2	gene	DOID:3454	brain infarction		IEP		D	RGD:155630606|PMID:12161747	20221025	RGD		protein:altered expression:brain (rat)	
1305198	Meis2	Meis homeobox 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305198	Meis2	Meis homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305198	Meis2	Meis homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1313085	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:30291340|PMID:30735726|PMID:32345733
1305198	Meis2	Meis homeobox 2	gene	DOID:674	cleft palate		ISO	RGD:1313085	D	RGD:155598678|PMID:30291340	20221019	RGD		DNA:mutations:cds:multiples	
1305198	Meis2	Meis homeobox 2	gene	DOID:674	cleft palate		ISO	RGD:1313085	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1305198	Meis2	Meis homeobox 2	gene	DOID:8927	learning disability		ISO	RGD:1313085	D	RGD:155598680|PMID:24678003	20221019	RGD		DNA:mutations, haplotype insufficiency: :	
1305198	Meis2	Meis homeobox 2	gene	DOID:9000121	Malocclusion		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cross bite	PMID:25741868
1305198	Meis2	Meis homeobox 2	gene	DOID:9004397	Calcification of Aortic Valve		ISO	RGD:1313085	D	RGD:155598679|PMID:30594396	20221019	RGD		mRNA,protein:decreased expression:aortic valve:	
1305198	Meis2	Meis homeobox 2	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1313085	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Speech delay	PMID:25741868
1305198	Meis2	Meis homeobox 2	gene	DOID:9005813	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES		ISO	RGD:1313085	D	RGD:155598678|PMID:30291340	20221019	RGD		DNA:mutations:cds:multiples	
1305198	Meis2	Meis homeobox 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305198	Meis2	Meis homeobox 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1305198	Meis2	Meis homeobox 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605937	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:440	neuromuscular disease		ISO	RGD:1605937	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605937	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:14698291	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305199	Mctp1	multiple C2 and transmembrane domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305200	Ttll2	tubulin tyrosine ligase like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305200	Ttll2	tubulin tyrosine ligase like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305200	Ttll2	tubulin tyrosine ligase like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305200	Ttll2	tubulin tyrosine ligase like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305200	Ttll2	tubulin tyrosine ligase like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305201	Dr1	down-regulator of transcription 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305201	Dr1	down-regulator of transcription 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305201	Dr1	down-regulator of transcription 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305201	Dr1	down-regulator of transcription 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305202	Ccm2l	CCM2 like scaffold protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305202	Ccm2l	CCM2 like scaffold protein	gene	DOID:10534	stomach cancer		ISO	RGD:1344204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305202	Ccm2l	CCM2 like scaffold protein	gene	DOID:1324	lung cancer		ISO	RGD:1344204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305202	Ccm2l	CCM2 like scaffold protein	gene	DOID:4362	cervical cancer		ISO	RGD:1344204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305202	Ccm2l	CCM2 like scaffold protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305202	Ccm2l	CCM2 like scaffold protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305203	Bag1	BAG cochaperone 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305203	Bag1	BAG cochaperone 1	gene	DOID:0080600	COVID-19		ISO	RGD:1313091	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1305203	Bag1	BAG cochaperone 1	gene	DOID:10283	prostate cancer		ISO	RGD:1313091	D	RGD:2293885|PMID:17503439	20080620	RGD		DNA, protein:amplification, increased expression:prostate gland	
1305203	Bag1	BAG cochaperone 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305203	Bag1	BAG cochaperone 1	gene	DOID:12528	lesion of sciatic nerve		IEP		D	RGD:13506903|PMID:23108487	20180221	RGD			
1305203	Bag1	BAG cochaperone 1	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:1313092	D	RGD:13506921|PMID:18400759	20180223	RGD			
1305203	Bag1	BAG cochaperone 1	gene	DOID:1380	endometrial cancer		ISO	RGD:1313091	D	RGD:2293886|PMID:15297164	20080620	RGD		protein:increased expression:endometrium	
1305203	Bag1	BAG cochaperone 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1313091	D	RGD:2293888|PMID:11181661	20080620	RGD		protein:increased expression:breast	
1305203	Bag1	BAG cochaperone 1	gene	DOID:2893	cervix carcinoma		ISO	RGD:1313091	D	RGD:2293889|PMID:10047462	20080620	RGD		protein:increased expression:uterine cervix	
1305203	Bag1	BAG cochaperone 1	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1313091	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19066611
1305203	Bag1	BAG cochaperone 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305203	Bag1	BAG cochaperone 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305203	Bag1	BAG cochaperone 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313091	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305203	Bag1	BAG cochaperone 1	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1313091	D	RGD:2292908|PMID:18430249	20080506	RGD		associated with Breast Neoplasms:protein:increased expression:breast	
1305203	Bag1	BAG cochaperone 1	gene	DOID:9004009	Reperfusion Injury		IMP		D	RGD:2296021|PMID:12215270	20080623	RGD			
1305203	Bag1	BAG cochaperone 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313091	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19066611
1305204	Rnf43	ring finger protein 43	gene	DOID:0050869	villous adenoma		ISO	RGD:1342772	D	RGD:9068941	20220825	RGD		DNA:nonsense mutation:CDS:p.R113X (human)	PMID:24512911|REF_RGD_ID:11552863
1305204	Rnf43	ring finger protein 43	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305204	Rnf43	ring finger protein 43	gene	DOID:10534	stomach cancer		ISO	RGD:1332400	D	RGD:11354809|PMID:27006499	20220311	RGD			
1305204	Rnf43	ring finger protein 43	gene	DOID:10534	stomach cancer		ISO	RGD:1342772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305204	Rnf43	ring finger protein 43	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1342772	D	RGD:151361220|PMID:27514024	20220301	RGD		mRNA:altered expression:stomach (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:10907	microcephaly		ISO	RGD:1342772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	PMID:25741868|PMID:28492532
1305204	Rnf43	ring finger protein 43	gene	DOID:1380	endometrial cancer		ISO	RGD:1342772	D	RGD:151361224|PMID:25344691	20220301	RGD		DNA:mutations:multiple: (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1342772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:26350900|PMID:33067269|PMID:35101336
1305204	Rnf43	ring finger protein 43	gene	DOID:218	ascending colon cancer	exacerbates	ISO	RGD:1342772	D	RGD:151361217|PMID:32236609	20220301	RGD		DNA:nonsense mutation, frameshift mutations:CDS:multiple (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1342772	D	RGD:11053240|PMID:26350900	20220224	RGD		mRNA:increased expression:colon (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1305204	Rnf43	ring finger protein 43	gene	DOID:3070	high grade glioma	exacerbates	ISO	RGD:1342772	D	RGD:151361124|PMID:25755738	20220224	RGD		protein:decreased expression:brain, brainstem (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:3493	signet ring cell adenocarcinoma		ISO	RGD:1342772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Signet ring cell carcinoma	PMID:25344691|PMID:27993330|PMID:28481359|PMID:32008206
1305204	Rnf43	ring finger protein 43	gene	DOID:3717	gastric adenocarcinoma	severity	ISO	RGD:1342772	D	RGD:151361216|PMID:30380024	20220301	RGD		human cells in a mouse model	
1305204	Rnf43	ring finger protein 43	gene	DOID:4029	gastritis	exacerbates	ISO	RGD:1332400	D	RGD:151361146|PMID:30884828	20220224	RGD		associated with Helicobacter Infections; DNA:missense mutations:CDS:p.H292R, p.H295R (mouse)	
1305204	Rnf43	ring finger protein 43	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305204	Rnf43	ring finger protein 43	gene	DOID:4928	intrahepatic cholangiocarcinoma	exacerbates	ISO	RGD:1342772	D	RGD:151361125|PMID:26980022	20220224	RGD		mRNA, protein:decreased expression:liver, bile duct epithelium (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342772	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561520
1305204	Rnf43	ring finger protein 43	gene	DOID:4947	cholangiocarcinoma	exacerbates	ISO	RGD:1342772	D	RGD:151361227|PMID:22561520	20220301	RGD		associated with opisthorchiasis;DNA:SNPs:multiple: (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:5517	stomach carcinoma		ISO	RGD:1342772	D	RGD:151665118|PMID:24816253	20220311	RGD		DNA:mutations:multiple: (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:5517	stomach carcinoma	exacerbates	ISO	RGD:1342772	D	RGD:11086719|PMID:26184844	20220301	RGD		protein:decreased expression:stomach (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1342772	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1305204	Rnf43	ring finger protein 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305204	Rnf43	ring finger protein 43	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1342772	D	RGD:151361219|PMID:23136185	20220301	RGD		human cells in a mouse model	
1305204	Rnf43	ring finger protein 43	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1342772	D	RGD:11056888|PMID:26297255	20220301	RGD		associated with colorectal cancer, stomach cancer;protein:decreased expression:cytoplasm (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1342772	D	RGD:151361217|PMID:32236609	20220301	RGD		associated with ascending colon cancer;DNA:nonsense mutation, frameshift mutations:CDS:multiple (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1342772	D	RGD:151361224|PMID:25344691	20220301	RGD		associated with colorectal cancer, endometrial cancer;DNA:mutations:multiple (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1342772	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24816253
1305204	Rnf43	ring finger protein 43	gene	DOID:9001231	Sessile Serrated Polyposis Cancer Syndrome		ISO	RGD:1342772	D	RGD:11552863|PMID:24512911	20220301	RGD		DNA:nonsense mutation:CDS:p.R113X (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:9001231	Sessile Serrated Polyposis Cancer Syndrome		ISO	RGD:1342772	D	RGD:7240710	20190315	OMIM			
1305204	Rnf43	ring finger protein 43	gene	DOID:9001231	Sessile Serrated Polyposis Cancer Syndrome		ISO	RGD:1342772	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RNF43-related condition | ClinVar Annotator: match by term: Sessile serrated polyposis cancer syndrome | ClinVar Annotator: match by term: sessile serrated polyposis cancer syndrome	PMID:17576681|PMID:24033266|PMID:24512911|PMID:25741868|PMID:27582512|PMID:28492532|PMID:28767289|PMID:29330307|PMID:30862463|PMID:32965059|PMID:33525650|PMID:34160418|PMID:35101336|PMID:35907983|PMID:39120161|PMID:9536098
1305204	Rnf43	ring finger protein 43	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1342772	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1305204	Rnf43	ring finger protein 43	gene	DOID:9003155	Parasitic Liver Diseases		ISO	RGD:1342772	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561520
1305204	Rnf43	ring finger protein 43	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1342772	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1305204	Rnf43	ring finger protein 43	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1342772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:28492532
1305204	Rnf43	ring finger protein 43	gene	DOID:9006618	Liver Metastasis		ISO	RGD:1342772	D	RGD:151361221|PMID:28789449	20220301	RGD		associated with colorectal adenocarcinoma;mRNA:increased expression:liver (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:27582512|PMID:28492532|PMID:29330307
1305204	Rnf43	ring finger protein 43	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1342772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:24033266|PMID:25741868|PMID:27582512|PMID:28492532|PMID:28767289|PMID:29330307|PMID:30862463
1305204	Rnf43	ring finger protein 43	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1342772	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25344691
1305204	Rnf43	ring finger protein 43	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868|PMID:28492532
1305204	Rnf43	ring finger protein 43	gene	DOID:9008330	Serrated Polyposis		ISO	RGD:1342772	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colon Serrated Polyposis	PMID:22552244
1305204	Rnf43	ring finger protein 43	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1342772	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25344691
1305204	Rnf43	ring finger protein 43	gene	DOID:9256	colorectal cancer		ISO	RGD:1332400	D	RGD:151361223|PMID:29021137	20220301	RGD		protein:decreased expression:colorectum (mouse)	
1305204	Rnf43	ring finger protein 43	gene	DOID:9256	colorectal cancer		ISO	RGD:1342772	D	RGD:151361218|PMID:27661107	20220301	RGD		mRNA, protein:decreased expression:colorectum (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:9256	colorectal cancer		ISO	RGD:1342772	D	RGD:151361224|PMID:25344691	20220301	RGD		DNA:mutations:multiple: (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1342772	D	RGD:151361145|PMID:31140864	20220224	RGD		DNA:silent mutation, missense mutation:exon 3:p.R117R, p.R117H (rs2257205) (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1342772	D	RGD:151361209|PMID:29756208	20220301	RGD		DNA:mutations:multiple (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1342772	D	RGD:151361228|PMID:33230914	20220301	RGD		DNA:mutations:multiple: (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:9256	colorectal cancer	onset	ISO	RGD:1342772	D	RGD:151356979|PMID:33194656	20220311	RGD		associated with Neoplasm Metastasis;DNA:mutations:multiple (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1342772	D	RGD:151665113|PMID:29473265	20220311	RGD			
1305204	Rnf43	ring finger protein 43	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1342772	D	RGD:151665114|PMID:22977472	20220311	RGD			
1305204	Rnf43	ring finger protein 43	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1342772	D	RGD:151665115|PMID:23267878	20220311	RGD			
1305204	Rnf43	ring finger protein 43	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1342772	D	RGD:151665116|PMID:22202234	20220311	RGD			
1305204	Rnf43	ring finger protein 43	gene	DOID:9778	irritable bowel syndrome	exacerbates	ISO	RGD:1342772	D	RGD:151361225|PMID:29416670	20220301	RGD		associated with Colitis-Associated Neoplasms;DNA:mutations:multiple: (human)	
1305204	Rnf43	ring finger protein 43	gene	DOID:9970	obesity		ISO	RGD:1342772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
1305205	Tmt1b	thiol methyltransferase 1B	gene	DOID:1909	melanoma		ISO	RGD:1603260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305205	Tmt1b	thiol methyltransferase 1B	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1603260	D	RGD:11554173	20221213	CTD		CTD Direct Evidence: marker/mechanism	PMID:28811376
1305205	Tmt1b	thiol methyltransferase 1B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305206	Ipo4	importin 4	gene	DOID:1115	sarcoma		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305206	Ipo4	importin 4	gene	DOID:1324	lung cancer		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305206	Ipo4	importin 4	gene	DOID:1909	melanoma		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305206	Ipo4	importin 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313095	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1305206	Ipo4	importin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305206	Ipo4	importin 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305206	Ipo4	importin 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305206	Ipo4	importin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1313095	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305206	Ipo4	importin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305206	Ipo4	importin 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305206	Ipo4	importin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305206	Ipo4	importin 4	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1313095	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1305206	Ipo4	importin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305206	Ipo4	importin 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:0060058	lymphoma		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:10534	stomach cancer		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:1115	sarcoma		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:1324	lung cancer		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:3275	thymoma		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:4362	cervical cancer		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:5419	schizophrenia		ISO	RGD:1605837	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305208	Als2cl	ALS2 C-terminal like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305211	Lipt2	lipoyl(octanoyl) transferase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:8558771	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
1305211	Lipt2	lipoyl(octanoyl) transferase 2	gene	DOID:0070752	neonatal severe encephalopathy with lactic acidosis and brain abnormalities		ISO	RGD:2947567	D	RGD:7240710	20190315	OMIM			
1305211	Lipt2	lipoyl(octanoyl) transferase 2	gene	DOID:0070752	neonatal severe encephalopathy with lactic acidosis and brain abnormalities		ISO	RGD:2947567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | ClinVar Annotator: match by term: LIPT2-related condition	PMID:25741868|PMID:28492532|PMID:28757203|PMID:28803783
1305211	Lipt2	lipoyl(octanoyl) transferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:2947567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305211	Lipt2	lipoyl(octanoyl) transferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2947567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305212	Poli	DNA polymerase iota	gene	DOID:1115	sarcoma		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305212	Poli	DNA polymerase iota	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305212	Poli	DNA polymerase iota	gene	DOID:4362	cervical cancer		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305212	Poli	DNA polymerase iota	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305212	Poli	DNA polymerase iota	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305212	Poli	DNA polymerase iota	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305212	Poli	DNA polymerase iota	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305212	Poli	DNA polymerase iota	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305214	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305214	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305214	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305214	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305214	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305214	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1313107	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1305214	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305214	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305214	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313107	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305214	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305214	Nt5dc1	5'-nucleotidase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305215	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:0060551	poikiloderma with neutropenia		ISO	RGD:1606230	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305215	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:0060551	poikiloderma with neutropenia		ISO	RGD:1606230	D	RGD:7240710	20190315	OMIM			
1305215	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:0060551	poikiloderma with neutropenia		ISO	RGD:1606230	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POIKILODERMA WITH NEUTROPENIA | ClinVar Annotator: match by term: Poikiloderma with neutropenia | ClinVar Annotator: match by term: USB1-related condition	PMID:16199547|PMID:17576681|PMID:20004881|PMID:20618321|PMID:20817924|PMID:21271650|PMID:21872685|PMID:21967010|PMID:23190533|PMID:24033266|PMID:25044170|PMID:25741868|PMID:27612988|PMID:28492532|PMID:29982244|PMID:31522452|PMID:32897901|PMID:9536098
1305215	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305215	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305215	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305215	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606230	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305215	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305215	Usb1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:630	genetic disease		ISO	RGD:1606230	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305216	Sirt6	sirtuin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305216	Sirt6	sirtuin 6	gene	DOID:0051064	left ventricular failure		ISO	RGD:1313110	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: therapeutic	PMID:34713381
1305216	Sirt6	sirtuin 6	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1305216	Sirt6	sirtuin 6	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	IEP		D	RGD:6484527|PMID:21373642	20140926	RGD			
1305216	Sirt6	sirtuin 6	gene	DOID:10763	hypertension	exacerbates	ISO	RGD:1313111	D	RGD:155260334|PMID:30894089	20221003	RGD			
1305216	Sirt6	sirtuin 6	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:1313110	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: therapeutic	PMID:34713381
1305216	Sirt6	sirtuin 6	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:9586062|PMID:23899523	20140926	RGD		mRNA, protein:decreased expression:brain	
1305216	Sirt6	sirtuin 6	gene	DOID:2843	long QT syndrome		ISO	RGD:1313110	D	RGD:8554872	20150908	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	PMID:26132555
1305216	Sirt6	sirtuin 6	gene	DOID:2843	long QT syndrome		ISO	RGD:1313110	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1305216	Sirt6	sirtuin 6	gene	DOID:3275	thymoma		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305216	Sirt6	sirtuin 6	gene	DOID:3911	progeria		ISS	RGD:1313111	D	RGD:13592920	20180518	MouseDO		OMIM:176670	
1305216	Sirt6	sirtuin 6	gene	DOID:4362	cervical cancer		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305216	Sirt6	sirtuin 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1313110	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305216	Sirt6	sirtuin 6	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1313110	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1305216	Sirt6	sirtuin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305216	Sirt6	sirtuin 6	gene	DOID:9000784	Fibrosis		ISO	RGD:1313110	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: marker/mechanism	PMID:35798905
1305216	Sirt6	sirtuin 6	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:1313110	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: therapeutic	PMID:34713381
1305216	Sirt6	sirtuin 6	gene	DOID:9003234	Hypertensive Nephropathy		ISO	RGD:1313110	D	RGD:155260334|PMID:30894089	20221003	RGD		protein:decreased expression:kidney	
1305216	Sirt6	sirtuin 6	gene	DOID:9003566	Mesothelioma		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1305216	Sirt6	sirtuin 6	gene	DOID:9003936	Cardiomegaly		IEP		D	RGD:9586060|PMID:22335191	20140926	RGD			
1305216	Sirt6	sirtuin 6	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1313110	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:22335191|PMID:35798905
1305216	Sirt6	sirtuin 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313110	D	RGD:8554872	20250128	ClinVar		ClinVar Annotator: match by term: Syndromic complex neurodevelopmental disorder	PMID:25741868
1305216	Sirt6	sirtuin 6	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1313110	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: marker/mechanism	PMID:35798905
1305216	Sirt6	sirtuin 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305216	Sirt6	sirtuin 6	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:1313110	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: therapeutic	PMID:34713381
1305216	Sirt6	sirtuin 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305216	Sirt6	sirtuin 6	gene	DOID:9452	steatotic liver disease		ISO	RGD:1313110	D	RGD:11554173	20200211	CTD		CTD Direct Evidence: therapeutic	PMID:28536482
1305216	Sirt6	sirtuin 6	gene	DOID:9970	obesity		IEP		D	RGD:9586064|PMID:24135502	20140926	RGD		protein:decreased expression:ovary	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:0080867	primary ovarian insufficiency 10		ISO	RGD:1313114	D	RGD:7240710	20160914	OMIM			
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:0080867	primary ovarian insufficiency 10		ISO	RGD:1313114	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 10 | ClinVar Annotator: match by term: Premature ovarian failure 10	PMID:25741868
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:0111001	Joubert syndrome 6		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 6	PMID:25741868
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:10534	stomach cancer		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:11476	osteoporosis		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:31042289
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:1324	lung cancer		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:13938	amenorrhea		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:25741868|PMID:28863940
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:1909	melanoma		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:3070	high grade glioma		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:4362	cervical cancer		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1313114	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:630	genetic disease		ISO	RGD:1313114	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:31042289
1305218	Mcm8	minichromosome maintenance 8 homologous recombination repair factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1313116	D	RGD:401851917|PMID:18438686	20231031	RGD		DNA:SNP:: (rs560019) (human)	
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:10534	stomach cancer		ISO	RGD:1313116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1313116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28327206
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:1115	sarcoma		ISO	RGD:1313116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:1324	lung cancer		ISO	RGD:1313116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:1574	alcohol use disorder		ISO	RGD:1313116	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:1612	breast cancer		ISO	RGD:1313116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:1909	melanoma		ISO	RGD:1313116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:4362	cervical cancer		ISO	RGD:1313116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313116	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1305219	Cdk20	cyclin-dependent kinase 20	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305220	Ppm1l	protein phosphatase, Mg2+/Mn2+ dependent, 1L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305220	Ppm1l	protein phosphatase, Mg2+/Mn2+ dependent, 1L	gene	DOID:9970	obesity		ISO	RGD:1313118	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18344982
1305221	Pgm3	phosphoglucomutase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305221	Pgm3	phosphoglucomutase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305221	Pgm3	phosphoglucomutase 3	gene	DOID:0111953	immunodeficiency 23		ISO	RGD:1603410	D	RGD:7240710	20140911	OMIM			
1305221	Pgm3	phosphoglucomutase 3	gene	DOID:0111953	immunodeficiency 23		ISO	RGD:1603410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 23 | ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23	PMID:16199547|PMID:17548465|PMID:17576681|PMID:24589341|PMID:24931394|PMID:25741868|PMID:26409661|PMID:26482871|PMID:27379089|PMID:28492532|PMID:28543917|PMID:29967067|PMID:30157810|PMID:30498080|PMID:31980526|PMID:32394034|PMID:32506361|PMID:35040011|PMID:36413997|PMID:39776909|PMID:9536098
1305221	Pgm3	phosphoglucomutase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305221	Pgm3	phosphoglucomutase 3	gene	DOID:1115	sarcoma		ISO	RGD:1603410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305221	Pgm3	phosphoglucomutase 3	gene	DOID:3307	teratoma		ISO	RGD:1603410	D	RGD:2299871|PMID:5259759	20080818	RGD			
1305221	Pgm3	phosphoglucomutase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1603410	D	RGD:2299870|PMID:508567	20080818	RGD			
1305221	Pgm3	phosphoglucomutase 3	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1603410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:17548465|PMID:24589341|PMID:24931394|PMID:25741868|PMID:26482871|PMID:28492532|PMID:28543917|PMID:32394034|PMID:35040011|PMID:39776909
1305221	Pgm3	phosphoglucomutase 3	gene	DOID:630	genetic disease		ISO	RGD:1603410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26482871|PMID:28492532|PMID:28543917|PMID:32394034|PMID:35040011|PMID:39776909
1305221	Pgm3	phosphoglucomutase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305221	Pgm3	phosphoglucomutase 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1603410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305222	Tma16	translation machinery associated 16 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305222	Tma16	translation machinery associated 16 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1605071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305222	Tma16	translation machinery associated 16 homolog	gene	DOID:3070	high grade glioma		ISO	RGD:1605071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305222	Tma16	translation machinery associated 16 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305222	Tma16	translation machinery associated 16 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305222	Tma16	translation machinery associated 16 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305222	Tma16	translation machinery associated 16 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305223	Slc66a2	solute carrier family 66 member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305223	Slc66a2	solute carrier family 66 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305223	Slc66a2	solute carrier family 66 member 2	gene	DOID:1115	sarcoma		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305223	Slc66a2	solute carrier family 66 member 2	gene	DOID:1909	melanoma		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305223	Slc66a2	solute carrier family 66 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305223	Slc66a2	solute carrier family 66 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313123	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305223	Slc66a2	solute carrier family 66 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305223	Slc66a2	solute carrier family 66 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305223	Slc66a2	solute carrier family 66 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305223	Slc66a2	solute carrier family 66 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305225	Ccdc174	coiled-coil domain containing 174	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305225	Ccdc174	coiled-coil domain containing 174	gene	DOID:10534	stomach cancer		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305225	Ccdc174	coiled-coil domain containing 174	gene	DOID:1115	sarcoma		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305225	Ccdc174	coiled-coil domain containing 174	gene	DOID:1324	lung cancer		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305225	Ccdc174	coiled-coil domain containing 174	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305225	Ccdc174	coiled-coil domain containing 174	gene	DOID:9001031	Retrognathia		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1305225	Ccdc174	coiled-coil domain containing 174	gene	DOID:9001343	Infantile Hypotonia with Psychomotor Retardation		ISO	RGD:1348248	D	RGD:7240710	20190315	OMIM			
1305225	Ccdc174	coiled-coil domain containing 174	gene	DOID:9001343	Infantile Hypotonia with Psychomotor Retardation		ISO	RGD:1348248	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION | ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation	PMID:25741868|PMID:28492532
1305225	Ccdc174	coiled-coil domain containing 174	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868
1305225	Ccdc174	coiled-coil domain containing 174	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
1305225	Ccdc174	coiled-coil domain containing 174	gene	DOID:9008993	Myotonia		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myotonia	PMID:25741868
1305225	Ccdc174	coiled-coil domain containing 174	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305225	Ccdc174	coiled-coil domain containing 174	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1305225	Ccdc174	coiled-coil domain containing 174	gene	DOID:9884	muscular dystrophy		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
1305226	Kmt5c	lysine methyltransferase 5C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305226	Kmt5c	lysine methyltransferase 5C	gene	DOID:1909	melanoma		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305226	Kmt5c	lysine methyltransferase 5C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305226	Kmt5c	lysine methyltransferase 5C	gene	DOID:3275	thymoma		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305226	Kmt5c	lysine methyltransferase 5C	gene	DOID:4362	cervical cancer		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305226	Kmt5c	lysine methyltransferase 5C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305226	Kmt5c	lysine methyltransferase 5C	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:9586742|PMID:21357467	20141003	RGD		mRNA:increased expression:retina	
1305226	Kmt5c	lysine methyltransferase 5C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305226	Kmt5c	lysine methyltransferase 5C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305226	Kmt5c	lysine methyltransferase 5C	gene	DOID:916	liver benign neoplasm	disease_progression	IEP		D	RGD:9586726|PMID:16497704	20141003	RGD		protein:decreased expression:liver	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:1115	sarcoma		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:1324	lung cancer		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:234	colon adenocarcinoma	severity	ISO	RGD:1313128	D	RGD:151356955|PMID:23095742	20220221	RGD		human cell line in a mouse model	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:3275	thymoma		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313128	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1313128	D	RGD:151356954|PMID:24483990	20220221	RGD		assoc. w/gastric cancer;DNA:frameshift mutations:exon 6, exon 17:K188fsX5, T751fsX9 (human)	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313128	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1313128	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305227	Smc2	structural maintenance of chromosomes 2	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1313128	D	RGD:151356956|PMID:31357676	20220221	RGD		mRNA:decreased expression:colorectum (human)	
1305228	Phf2	PHD finger protein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313130	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1305228	Phf2	PHD finger protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1313130	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305228	Phf2	PHD finger protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1313130	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305228	Phf2	PHD finger protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1313130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305228	Phf2	PHD finger protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1313130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305228	Phf2	PHD finger protein 2	gene	DOID:1909	melanoma		ISO	RGD:1313130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305228	Phf2	PHD finger protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1313130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305228	Phf2	PHD finger protein 2	gene	DOID:3275	thymoma		ISO	RGD:1313130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305228	Phf2	PHD finger protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305228	Phf2	PHD finger protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305228	Phf2	PHD finger protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305228	Phf2	PHD finger protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313130	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305228	Phf2	PHD finger protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313130	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305228	Phf2	PHD finger protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305228	Phf2	PHD finger protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313130	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1305228	Phf2	PHD finger protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313130	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1305228	Phf2	PHD finger protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305228	Phf2	PHD finger protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305228	Phf2	PHD finger protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305229	Frmpd1	FERM and PDZ domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305229	Frmpd1	FERM and PDZ domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305229	Frmpd1	FERM and PDZ domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1313132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305229	Frmpd1	FERM and PDZ domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305229	Frmpd1	FERM and PDZ domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305229	Frmpd1	FERM and PDZ domain containing 1	gene	DOID:687	hepatoblastoma		ISO	RGD:1313132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	
1305229	Frmpd1	FERM and PDZ domain containing 1	gene	DOID:9005233	Experimental Mammary Neoplasms		IEP		D	RGD:1601189|PMID:17404222	20090216	RGD			
1305229	Frmpd1	FERM and PDZ domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305230	Reep1	receptor accessory protein 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1313134	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
1305230	Reep1	receptor accessory protein 1	gene	DOID:0081425	autosomal recessive distal hereditary motor neuronopathy 6		ISO	RGD:1313134	D	RGD:7240710	20220921	OMIM			
1305230	Reep1	receptor accessory protein 1	gene	DOID:0081425	autosomal recessive distal hereditary motor neuronopathy 6		ISO	RGD:1313134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6	PMID:25741868
1305230	Reep1	receptor accessory protein 1	gene	DOID:0110782	hereditary spastic paraplegia 31		ISO	RGD:1313134	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305230	Reep1	receptor accessory protein 1	gene	DOID:0110782	hereditary spastic paraplegia 31		ISO	RGD:1313134	D	RGD:7240710	20130221	OMIM			
1305230	Reep1	receptor accessory protein 1	gene	DOID:0110782	hereditary spastic paraplegia 31		ISO	RGD:1313134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant	PMID:16199547|PMID:16826527|PMID:17576681|PMID:18321925|PMID:18644145|PMID:19034539|PMID:19072839|PMID:20718791|PMID:21618648|PMID:22062632|PMID:22703882|PMID:23812641|PMID:24098485|PMID:24451228|PMID:24478229|PMID:24986827|PMID:25025039|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26201691|PMID:26374131|PMID:26392352|PMID:26467025|PMID:26671083|PMID:27260292|PMID:28362824|PMID:28492532|PMID:29124833|PMID:30373780|PMID:30637453|PMID:32581362|PMID:32655478|PMID:34782662|PMID:34983064|PMID:9536098
1305230	Reep1	receptor accessory protein 1	gene	DOID:0110782	hereditary spastic paraplegia 31		ISS	RGD:1313135	D	RGD:13592920	20230718	MouseDO		OMIM:610250	
1305230	Reep1	receptor accessory protein 1	gene	DOID:0111203	autosomal dominant distal hereditary motor neuronopathy 5		ISO	RGD:1313134	D	RGD:11554173	20190702	CTD		CTD Direct Evidence: marker/mechanism	
1305230	Reep1	receptor accessory protein 1	gene	DOID:0111205	autosomal dominant distal hereditary motor neuronopathy 12		ISO	RGD:1313134	D	RGD:7240710	20140911	OMIM			
1305230	Reep1	receptor accessory protein 1	gene	DOID:0111205	autosomal dominant distal hereditary motor neuronopathy 12		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VB	PMID:16826527|PMID:18321925|PMID:19034539|PMID:20718791|PMID:22703882|PMID:25741868|PMID:26467025|PMID:28492532
1305230	Reep1	receptor accessory protein 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:24604904|PMID:25025039|PMID:25741868|PMID:28492532
1305230	Reep1	receptor accessory protein 1	gene	DOID:1389	polyneuropathy		ISO	RGD:1313134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
1305230	Reep1	receptor accessory protein 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1313134	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:16199547|PMID:16826527|PMID:18321925|PMID:18644145|PMID:19034539|PMID:19072839|PMID:20718791|PMID:22703882|PMID:23400676|PMID:23812641|PMID:24098485|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29629531|PMID:30637453|PMID:32581362
1305230	Reep1	receptor accessory protein 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1313134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:16826527|PMID:18321925|PMID:19034539|PMID:20718791|PMID:22703882|PMID:23812641|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:28492532|PMID:28832565|PMID:32581362
1305230	Reep1	receptor accessory protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305230	Reep1	receptor accessory protein 1	gene	DOID:607	paraplegia		ISO	RGD:1313134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16826527|PMID:18321925|PMID:20718791|PMID:22703882|PMID:23812641|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:28492532|PMID:32581362|PMID:34983064
1305230	Reep1	receptor accessory protein 1	gene	DOID:630	genetic disease		ISO	RGD:1313134	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16826527|PMID:18321925|PMID:19034539|PMID:20718791|PMID:24051375|PMID:25741868|PMID:26392352|PMID:28492532
1305230	Reep1	receptor accessory protein 1	gene	DOID:630	genetic disease		ISO	RGD:1313134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16826527|PMID:18321925|PMID:19034539|PMID:20718791|PMID:22703882|PMID:23812641|PMID:24051375|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32581362
1305230	Reep1	receptor accessory protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305230	Reep1	receptor accessory protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:28492532
1305230	Reep1	receptor accessory protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305230	Reep1	receptor accessory protein 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1313134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25025039|PMID:25741868
1305230	Reep1	receptor accessory protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305231	Usp42	ubiquitin specific peptidase 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305231	Usp42	ubiquitin specific peptidase 42	gene	DOID:1115	sarcoma		ISO	RGD:1313136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305231	Usp42	ubiquitin specific peptidase 42	gene	DOID:1909	melanoma		ISO	RGD:1313136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305231	Usp42	ubiquitin specific peptidase 42	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305231	Usp42	ubiquitin specific peptidase 42	gene	DOID:4362	cervical cancer		ISO	RGD:1313136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305231	Usp42	ubiquitin specific peptidase 42	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305231	Usp42	ubiquitin specific peptidase 42	gene	DOID:5041	esophageal cancer		ISO	RGD:1313136	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305231	Usp42	ubiquitin specific peptidase 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305231	Usp42	ubiquitin specific peptidase 42	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305231	Usp42	ubiquitin specific peptidase 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305232	Slc5a10	solute carrier family 5 member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305232	Slc5a10	solute carrier family 5 member 10	gene	DOID:1909	melanoma		ISO	RGD:1313138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305232	Slc5a10	solute carrier family 5 member 10	gene	DOID:4362	cervical cancer		ISO	RGD:1313138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305232	Slc5a10	solute carrier family 5 member 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305232	Slc5a10	solute carrier family 5 member 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305232	Slc5a10	solute carrier family 5 member 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:0050120	hemophagocytic lymphohistiocytosis		ISO	RGD:1313140	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374066
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:0070662	subcutaneous panniculitis-like T-cell lymphoma		ISO	RGD:1313140	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374066
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:0070662	subcutaneous panniculitis-like T-cell lymphoma		ISO	RGD:1313140	D	RGD:7240710	20190515	OMIM			
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:0070662	subcutaneous panniculitis-like T-cell lymphoma		ISO	RGD:1313140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HAVCR2-related condition | ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma	PMID:25741868|PMID:28492532|PMID:30374066|PMID:30792187|PMID:32005988|PMID:34398459|PMID:34398505|PMID:34426522|PMID:36171125|PMID:36212426|PMID:37062931
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:1115	sarcoma		ISO	RGD:1313140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:1485	cystic fibrosis		ISO	RGD:1313140	D	RGD:5135530|PMID:21263071	20110726	RGD			
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:224	transient cerebral ischemia	treatment	IEP		D	RGD:9686115|PMID:24771108	20150202	RGD			
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:2841	asthma		ISO	RGD:1313141	D	RGD:5135525|PMID:17517968	20110726	RGD			
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1313140	D	RGD:5135524|PMID:21382414	20110726	RGD			
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:3275	thymoma		ISO	RGD:1313140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:4450	renal cell carcinoma	susceptibility	ISO	RGD:1313140	D	RGD:7245505|PMID:22472081	20130607	RGD		DNA:polymorphisms: :-574G>T, +4259T>G (human)	
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1313140	D	RGD:40818257|PMID:27034168	20201116	RGD		associated with hepatitis B;DNA:SNP: :  ���1516  G>T (human)	
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1313140	D	RGD:7245505|PMID:22472081	20130607	RGD		DNA:polymorphisms: : +4259T>G (human)	
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9002457	Experimental Arthritis		IEP		D	RGD:9686117|PMID:25264706	20150202	RGD		mRNA,protein:altered expression:bone:	
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IEP		D	RGD:9686113|PMID:15913792	20150202	RGD		mRNA:increased expression:spinal cord:	
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1313141	D	RGD:9686086|PMID:11823861	20150130	RGD			
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9004283	Transplant Rejection		IEP		D	RGD:9686116|PMID:24508263	20150202	RGD		mRNA,protein:increased expression:lung:	
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1313140	D	RGD:7245954|PMID:22172823	20130617	RGD		mRNA:increased expression:Leukocytes, Mononuclear:	
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9006647	Experimental Autoimmune Neuritis	disease_progression	IEP		D	RGD:9686114|PMID:21784136	20150202	RGD		mRNA,protein:increased expression:sciatic nerve:	
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9007356	Eczema		ISO	RGD:1313140	D	RGD:5128852|PMID:16159638	20110726	RGD			
1305233	Havcr2	hepatitis A virus cellular receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1305234	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305234	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305234	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1313142	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
1305234	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:1115	sarcoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305234	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:1909	melanoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305234	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:2394	ovarian cancer		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305234	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:3275	thymoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305234	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305234	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305234	Ythdf3	YTH N6-methyladenosine RNA binding protein F3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305235	Dcph1	damage control phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305235	Dcph1	damage control phosphatase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305235	Dcph1	damage control phosphatase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1313144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305235	Dcph1	damage control phosphatase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305235	Dcph1	damage control phosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305235	Dcph1	damage control phosphatase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1313144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305236	Psmd13	proteasome 26S subunit, non-ATPase 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305236	Psmd13	proteasome 26S subunit, non-ATPase 13	gene	DOID:10534	stomach cancer		ISO	RGD:1313146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305236	Psmd13	proteasome 26S subunit, non-ATPase 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305236	Psmd13	proteasome 26S subunit, non-ATPase 13	gene	DOID:1324	lung cancer		ISO	RGD:1313146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305236	Psmd13	proteasome 26S subunit, non-ATPase 13	gene	DOID:4362	cervical cancer		ISO	RGD:1313146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305236	Psmd13	proteasome 26S subunit, non-ATPase 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305236	Psmd13	proteasome 26S subunit, non-ATPase 13	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1313146	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1305236	Psmd13	proteasome 26S subunit, non-ATPase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305236	Psmd13	proteasome 26S subunit, non-ATPase 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305236	Psmd13	proteasome 26S subunit, non-ATPase 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305236	Psmd13	proteasome 26S subunit, non-ATPase 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305238	Trim32	tripartite motif-containing 32	gene	DOID:0110133	Bardet-Biedl syndrome 11		ISO	RGD:1313150	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305238	Trim32	tripartite motif-containing 32	gene	DOID:0110133	Bardet-Biedl syndrome 11		ISO	RGD:1313150	D	RGD:7240710	20171011	OMIM			
1305238	Trim32	tripartite motif-containing 32	gene	DOID:0110282	autosomal recessive limb-girdle muscular dystrophy type 2H		ISO	RGD:1313150	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305238	Trim32	tripartite motif-containing 32	gene	DOID:0110282	autosomal recessive limb-girdle muscular dystrophy type 2H		ISO	RGD:1313150	D	RGD:7240710	20130221	OMIM			
1305238	Trim32	tripartite motif-containing 32	gene	DOID:0110282	autosomal recessive limb-girdle muscular dystrophy type 2H		ISS	RGD:1313151	D	RGD:13592920	20230718	MouseDO		OMIM:254110	
1305238	Trim32	tripartite motif-containing 32	gene	DOID:1935	Bardet-Biedl syndrome	susceptibility	ISO	RGD:1313150	D	RGD:1624129|PMID:16606853	20070502	RGD		DNA:missense mutation:exon:p.P130S	
1305238	Trim32	tripartite motif-containing 32	gene	DOID:9884	muscular dystrophy	susceptibility	ISO	RGD:1313150	D	RGD:1624127|PMID:11822024	20070502	RGD		Limb-girdle muscular dystrophy type 2H, OMIM:254110;DNA:missense mutation:exon:p.D487N	
1305239	Zfp804a	zinc finger protein 804A	gene	DOID:1909	melanoma		ISO	RGD:1349576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305239	Zfp804a	zinc finger protein 804A	gene	DOID:303	substance-related disorder		ISO	RGD:1349576	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1305239	Zfp804a	zinc finger protein 804A	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1349576	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
1305239	Zfp804a	zinc finger protein 804A	gene	DOID:5419	schizophrenia		ISO	RGD:1349576	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677311
1305239	Zfp804a	zinc finger protein 804A	gene	DOID:5419	schizophrenia		ISO	RGD:1349576	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
1305239	Zfp804a	zinc finger protein 804A	gene	DOID:5419	schizophrenia		ISS	RGD:1332515	D	RGD:13592920	20230718	MouseDO		OMIM:181500	
1305239	Zfp804a	zinc finger protein 804A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305239	Zfp804a	zinc finger protein 804A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305239	Zfp804a	zinc finger protein 804A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305240	Nomo1	nodal modulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354081	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305240	Nomo1	nodal modulator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305240	Nomo1	nodal modulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305241	Slc39a1	solute carrier family 39 member 1	gene	DOID:0060496	respiratory allergy		ISO	RGD:1313154	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085522
1305241	Slc39a1	solute carrier family 39 member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305241	Slc39a1	solute carrier family 39 member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305241	Slc39a1	solute carrier family 39 member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305241	Slc39a1	solute carrier family 39 member 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313154	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16700911|PMID:19208208
1305241	Slc39a1	solute carrier family 39 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305243	Rfwd3	ring finger and WD repeat domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305243	Rfwd3	ring finger and WD repeat domain 3	gene	DOID:0060978	Fanconi anemia complementation group W		ISO	RGD:1349611	D	RGD:7240710	20190315	OMIM			
1305243	Rfwd3	ring finger and WD repeat domain 3	gene	DOID:0060978	Fanconi anemia complementation group W		ISO	RGD:1349611	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Fanconi anemia, complementation group W | ClinVar Annotator: match by term: RFWD3-related condition	PMID:17576681|PMID:25741868|PMID:26474068|PMID:28492532|PMID:28691929|PMID:33044890|PMID:9536098
1305243	Rfwd3	ring finger and WD repeat domain 3	gene	DOID:1115	sarcoma		ISO	RGD:1349611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305243	Rfwd3	ring finger and WD repeat domain 3	gene	DOID:13636	Fanconi anemia		ISO	RGD:1349611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:25741868|PMID:28492532
1305243	Rfwd3	ring finger and WD repeat domain 3	gene	DOID:3275	thymoma		ISO	RGD:1349611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305243	Rfwd3	ring finger and WD repeat domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305243	Rfwd3	ring finger and WD repeat domain 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349611	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305243	Rfwd3	ring finger and WD repeat domain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305243	Rfwd3	ring finger and WD repeat domain 3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1349611	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23666239
1305243	Rfwd3	ring finger and WD repeat domain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305243	Rfwd3	ring finger and WD repeat domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1305243	Rfwd3	ring finger and WD repeat domain 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1305244	Plekha3	pleckstrin homology domain containing A3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305244	Plekha3	pleckstrin homology domain containing A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305244	Plekha3	pleckstrin homology domain containing A3	gene	DOID:0060058	lymphoma		ISO	RGD:1313158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305244	Plekha3	pleckstrin homology domain containing A3	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1313158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1305244	Plekha3	pleckstrin homology domain containing A3	gene	DOID:2394	ovarian cancer		ISO	RGD:1313158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305246	Abhd17b	abhydrolase domain containing 17B, depalmitoylase	gene	DOID:1115	sarcoma		ISO	RGD:1313162	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305246	Abhd17b	abhydrolase domain containing 17B, depalmitoylase	gene	DOID:4362	cervical cancer		ISO	RGD:1313162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305246	Abhd17b	abhydrolase domain containing 17B, depalmitoylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305246	Abhd17b	abhydrolase domain containing 17B, depalmitoylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305247	Prdm9	PR/SET domain 9	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1349245	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
1305247	Prdm9	PR/SET domain 9	gene	DOID:10534	stomach cancer		ISO	RGD:1349245	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305247	Prdm9	PR/SET domain 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305247	Prdm9	PR/SET domain 9	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1349245	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
1305247	Prdm9	PR/SET domain 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305247	Prdm9	PR/SET domain 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:0050952	spastic ataxia		ISO	RGD:1312719	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1312719	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:22544366|PMID:29892015
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2		ISO	RGD:1312719	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant	PMID:25741868
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:0070250	autosomal dominant Emery-Dreifuss muscular dystrophy 5		ISO	RGD:1312719	D	RGD:7240710	20180912	OMIM			
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:0070250	autosomal dominant Emery-Dreifuss muscular dystrophy 5		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar Annotator: match by term: SYNE2-related condition	PMID:16199547|PMID:17576681|PMID:25214167|PMID:25741868|PMID:26094658|PMID:26467025|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28798025|PMID:32508047|PMID:35741838|PMID:37012247|PMID:37667433|PMID:9536098
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:0070250	autosomal dominant Emery-Dreifuss muscular dystrophy 5		ISO	RGD:1312719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar Annotator: match by term: SYNE2-related condition	PMID:16199547|PMID:17576681|PMID:25214167|PMID:25741868|PMID:26094658|PMID:26467025|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28798025|PMID:32508047|PMID:35741838|PMID:9536098
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:11162	respiratory failure		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:11383	cryptorchidism		IAGP		D	RGD:12911229|PMID:26502805	20170713	RGD		DNA:deletion:exon:	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1312719	D	RGD:11554173	20180918	CTD		CTD Direct Evidence: marker/mechanism	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:1596	depressive disorder		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:1909	melanoma		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1312719	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:28492532
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:3275	thymoma		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1312719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312719	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305248	Syne2	spectrin repeat containing nuclear envelope protein 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1312719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305250	Pdzrn3	PDZ domain containing RING finger 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305250	Pdzrn3	PDZ domain containing RING finger 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305250	Pdzrn3	PDZ domain containing RING finger 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305250	Pdzrn3	PDZ domain containing RING finger 3	gene	DOID:1115	sarcoma		ISO	RGD:1313169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305250	Pdzrn3	PDZ domain containing RING finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305250	Pdzrn3	PDZ domain containing RING finger 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313169	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305250	Pdzrn3	PDZ domain containing RING finger 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305250	Pdzrn3	PDZ domain containing RING finger 3	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1313169	D	RGD:8554872	20151208	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
1305250	Pdzrn3	PDZ domain containing RING finger 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1313169	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1305250	Pdzrn3	PDZ domain containing RING finger 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305251	Rnf152	ring finger protein 152	gene	DOID:3275	thymoma		ISO	RGD:1313171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305251	Rnf152	ring finger protein 152	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305251	Rnf152	ring finger protein 152	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305252	Rnf135	ring finger protein 135	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305252	Rnf135	ring finger protein 135	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313173	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:30763456
1305252	Rnf135	ring finger protein 135	gene	DOID:0060403	chromosome 17q11.2 deletion syndrome		ISO	RGD:1313173	D	RGD:11554173	20220920	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632510
1305252	Rnf135	ring finger protein 135	gene	DOID:0060403	chromosome 17q11.2 deletion syndrome		ISO	RGD:1313173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb	PMID:25741868
1305252	Rnf135	ring finger protein 135	gene	DOID:0080206	congenital anomalies of the kidney and urinary tract 1		ISO	RGD:1313173	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1	
1305252	Rnf135	ring finger protein 135	gene	DOID:10534	stomach cancer		ISO	RGD:1313173	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305252	Rnf135	ring finger protein 135	gene	DOID:1115	sarcoma		ISO	RGD:1313173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305252	Rnf135	ring finger protein 135	gene	DOID:12849	autistic disorder		ISO	RGD:1313173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:17632510|PMID:21681106
1305252	Rnf135	ring finger protein 135	gene	DOID:4362	cervical cancer		ISO	RGD:1313173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305252	Rnf135	ring finger protein 135	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305252	Rnf135	ring finger protein 135	gene	DOID:9006257	Growth Disorders		ISO	RGD:1313173	D	RGD:11554173	20220920	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632510
1305252	Rnf135	ring finger protein 135	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305253	Otor	otoraplin	gene	DOID:1115	sarcoma		ISO	RGD:1313174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305255	Tbc1d30	TBC1 domain family, member 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2291766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305255	Tbc1d30	TBC1 domain family, member 30	gene	DOID:4362	cervical cancer		ISO	RGD:2291766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305255	Tbc1d30	TBC1 domain family, member 30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2291766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305255	Tbc1d30	TBC1 domain family, member 30	gene	DOID:9002362	Hyperkinesis		ISO	RGD:2291766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinesis	PMID:25741868
1305255	Tbc1d30	TBC1 domain family, member 30	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2291766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305256	Lrrn4	leucine rich repeat neuronal 4	gene	DOID:1115	sarcoma		ISO	RGD:1313178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305256	Lrrn4	leucine rich repeat neuronal 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305258	Cwc25	CWC25 spliceosome associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305258	Cwc25	CWC25 spliceosome associated protein	gene	DOID:0060058	lymphoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305258	Cwc25	CWC25 spliceosome associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305258	Cwc25	CWC25 spliceosome associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305258	Cwc25	CWC25 spliceosome associated protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305258	Cwc25	CWC25 spliceosome associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1603211	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305258	Cwc25	CWC25 spliceosome associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1603211	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305258	Cwc25	CWC25 spliceosome associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305258	Cwc25	CWC25 spliceosome associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050562	West syndrome		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050944	spastic ataxia 5		ISO	RGD:1313183	D	RGD:7240710	20140911	OMIM			
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050944	spastic ataxia 5		ISO	RGD:1313183	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic ataxia 5	PMID:22022284|PMID:25401298|PMID:25741868|PMID:26467025|PMID:28449981|PMID:28454995|PMID:28492532|PMID:31111429|PMID:31327635|PMID:31589614|PMID:32219868|PMID:32237276|PMID:33841295|PMID:34333379|PMID:34418069|PMID:34445196|PMID:35869996|PMID:37332640
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050952	spastic ataxia		ISO	RGD:1313183	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050952	spastic ataxia	onset	ISO	RGD:1313183	D	RGD:11532672|PMID:22022284	20160902	RGD		DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human)	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050977	spinocerebellar ataxia 28		ISO	RGD:1313183	D	RGD:11532673|PMID:20725928	20160902	RGD		DNA:missense mutations:exon:p.M666V (c.1996A>G),  p.G671R (c.2011G>A) (human)	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050977	spinocerebellar ataxia 28		ISO	RGD:1313183	D	RGD:11532674|PMID:20208537	20160902	RGD		DNA:missense mutations: :multiple	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050977	spinocerebellar ataxia 28		ISO	RGD:1313183	D	RGD:11532675|PMID:20354562	20160902	RGD		DNA:missense mutation:exon:p.E700K (c.2098G>A) (human)	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050977	spinocerebellar ataxia 28		ISO	RGD:1313183	D	RGD:11532678|PMID:26868664	20160902	RGD		DNA:missense mutation:exon:p.P688T (c.2062C>A) (human)	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050977	spinocerebellar ataxia 28		ISO	RGD:1313183	D	RGD:11534993|PMID:24814845	20160916	RGD		DNA:deletion	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050977	spinocerebellar ataxia 28		ISO	RGD:1313183	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050977	spinocerebellar ataxia 28		ISO	RGD:1313183	D	RGD:7240710	20130221	OMIM			
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050977	spinocerebellar ataxia 28		ISO	RGD:1313183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 28 | ClinVar Annotator: match by term: Spinocerebellar ataxia 28 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 28	PMID:20208537|PMID:20354562|PMID:20725928|PMID:24272953|PMID:25741868|PMID:25741869|PMID:26454370|PMID:26467025|PMID:28492532|PMID:30910913|PMID:31111429|PMID:31327635|PMID:31589614|PMID:32219868|PMID:32237276|PMID:33841295|PMID:33956305|PMID:34052969|PMID:34333379|PMID:34418069|PMID:34445196|PMID:35869996|PMID:35982159|PMID:37332640
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050977	spinocerebellar ataxia 28		ISO	RGD:1313184	D	RGD:11532671|PMID:25485680	20160902	RGD			
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0050977	spinocerebellar ataxia 28		ISS	RGD:1313184	D	RGD:13592920	20230718	MouseDO		OMIM:610246	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0080840	optic atrophy 12		ISO	RGD:1313183	D	RGD:7240710	20200902	OMIM			
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0080840	optic atrophy 12		ISO	RGD:1313183	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OPTIC ATROPHY 12 | ClinVar Annotator: match by term: Optic atrophy 12 | ClinVar Annotator: match by term: optic atrophy 12	PMID:25741868|PMID:26467025|PMID:26633542|PMID:28492532|PMID:30910913|PMID:31111429|PMID:31589614|PMID:32219868|PMID:32237276|PMID:32548275|PMID:32600459|PMID:33841295|PMID:34333379|PMID:34418069|PMID:34445196|PMID:35869996|PMID:37332640
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:10301	parotitis		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parotitis	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:10579	leukodystrophy		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:1313183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:32219868|PMID:34052969|PMID:35982159
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:10907	microcephaly		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:10969	hemiplegia		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiplegia/hemiparesis	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:20725928|PMID:25741868|PMID:28492532
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:12642	hiatus hernia		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:12678	hypercalcemia		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalcemia	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:12895	keratoconjunctivitis sicca		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keratoconjunctivitis sicca	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:1824	status epilepticus		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:1313183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:34052969|PMID:35982159
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1313183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:34052969|PMID:35982159
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:1891	optic nerve disease		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology | ClinVar Annotator: match by term: Optic neuropathy	PMID:32219868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:2234	focal epilepsy		ISO	RGD:1313183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:34052969|PMID:35982159
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:2748	glycogen storage disease III		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease type III	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: bipolar disorder	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:4031	eosinophilic gastroenteritis		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eosinophilic gastroenteritis	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:4448	macular degeneration		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular degeneration	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:480	movement disease		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:543	dystonia		ISO	RGD:1313183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: Paroxysmal dystonia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32219868|PMID:34052969|PMID:35982159
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:5679	retinal disease		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:26467025|PMID:35641312
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:5723	optic atrophy		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32219868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:31111429|PMID:31589614|PMID:32237276|PMID:33841295|PMID:34333379|PMID:34418069|PMID:34445196|PMID:35869996|PMID:37332640
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313183	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1313183	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25401298
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9000343	Vision Disorders		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9000831	Hypokinesia		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9001738	Hypercalciuria		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalciuria	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1313183	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20208537
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinesis	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32219868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9002805	Enterocolitis		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enterocolitis	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9003286	Diplopia		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diplopia	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9004992	Apnea		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9006065	Arthralgia		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9006511	Xerostomia		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Xerostomia	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9006617	Fatigue		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9007722	Myoclonus		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9007736	Vertigo		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:20725928|PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:34052969|PMID:35982159
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9649	congenital nystagmus		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:25741868
1305259	Afg3l2	AFG3 like matrix AAA peptidase subunit 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1313183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1305260	Tmed6	transmembrane p24 trafficking protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305260	Tmed6	transmembrane p24 trafficking protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305260	Tmed6	transmembrane p24 trafficking protein 6	gene	DOID:1115	sarcoma		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305260	Tmed6	transmembrane p24 trafficking protein 6	gene	DOID:1324	lung cancer		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305260	Tmed6	transmembrane p24 trafficking protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305260	Tmed6	transmembrane p24 trafficking protein 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305260	Tmed6	transmembrane p24 trafficking protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305260	Tmed6	transmembrane p24 trafficking protein 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346090	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305260	Tmed6	transmembrane p24 trafficking protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305261	Cyp4f18	cytochrome P450, family 4, subfamily f, polypeptide 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305261	Cyp4f18	cytochrome P450, family 4, subfamily f, polypeptide 18	gene	DOID:10534	stomach cancer		ISO	RGD:1349362	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305261	Cyp4f18	cytochrome P450, family 4, subfamily f, polypeptide 18	gene	DOID:1324	lung cancer		ISO	RGD:1349362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305261	Cyp4f18	cytochrome P450, family 4, subfamily f, polypeptide 18	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305261	Cyp4f18	cytochrome P450, family 4, subfamily f, polypeptide 18	gene	DOID:4362	cervical cancer		ISO	RGD:1349362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305261	Cyp4f18	cytochrome P450, family 4, subfamily f, polypeptide 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305261	Cyp4f18	cytochrome P450, family 4, subfamily f, polypeptide 18	gene	DOID:9000046	Poisoning		ISO	RGD:1349362	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20036648
1305261	Cyp4f18	cytochrome P450, family 4, subfamily f, polypeptide 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305262	Golga3	golgin A3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305262	Golga3	golgin A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305262	Golga3	golgin A3	gene	DOID:10534	stomach cancer		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305262	Golga3	golgin A3	gene	DOID:1115	sarcoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305262	Golga3	golgin A3	gene	DOID:1324	lung cancer		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305262	Golga3	golgin A3	gene	DOID:1909	melanoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305262	Golga3	golgin A3	gene	DOID:3275	thymoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305262	Golga3	golgin A3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305262	Golga3	golgin A3	gene	DOID:4362	cervical cancer		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305262	Golga3	golgin A3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305262	Golga3	golgin A3	gene	DOID:5041	esophageal cancer		ISO	RGD:1313187	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305262	Golga3	golgin A3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305262	Golga3	golgin A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305262	Golga3	golgin A3	gene	DOID:6039	uveal melanoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305262	Golga3	golgin A3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305262	Golga3	golgin A3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305262	Golga3	golgin A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305262	Golga3	golgin A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305262	Golga3	golgin A3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:1324	lung cancer		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:1909	melanoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313189	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305263	Asap2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:10534	stomach cancer		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:1324	lung cancer		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:3275	thymoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:4362	cervical cancer		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:440	neuromuscular disease		ISO	RGD:1604350	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604350	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1604350	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305264	Ttc27	tetratricopeptide repeat domain 27	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305266	Phf10	PHD finger protein 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305266	Phf10	PHD finger protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305266	Phf10	PHD finger protein 10	gene	DOID:0060058	lymphoma		ISO	RGD:1313192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305266	Phf10	PHD finger protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1313192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305266	Phf10	PHD finger protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305266	Phf10	PHD finger protein 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305266	Phf10	PHD finger protein 10	gene	DOID:2394	ovarian cancer		ISO	RGD:1313192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305266	Phf10	PHD finger protein 10	gene	DOID:3275	thymoma		ISO	RGD:1313192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305266	Phf10	PHD finger protein 10	gene	DOID:4362	cervical cancer		ISO	RGD:1313192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305266	Phf10	PHD finger protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1313192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305266	Phf10	PHD finger protein 10	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305266	Phf10	PHD finger protein 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305266	Phf10	PHD finger protein 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305267	Arhgap32	Rho GTPase activating protein 32	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305267	Arhgap32	Rho GTPase activating protein 32	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1313195	D	RGD:13592920	20190516	MouseDO			
1305267	Arhgap32	Rho GTPase activating protein 32	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305267	Arhgap32	Rho GTPase activating protein 32	gene	DOID:1115	sarcoma		ISO	RGD:1605412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305267	Arhgap32	Rho GTPase activating protein 32	gene	DOID:1909	melanoma		ISO	RGD:1605412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305267	Arhgap32	Rho GTPase activating protein 32	gene	DOID:3070	high grade glioma		ISO	RGD:1605412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305267	Arhgap32	Rho GTPase activating protein 32	gene	DOID:4362	cervical cancer		ISO	RGD:1605412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305267	Arhgap32	Rho GTPase activating protein 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305267	Arhgap32	Rho GTPase activating protein 32	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305267	Arhgap32	Rho GTPase activating protein 32	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1305267	Arhgap32	Rho GTPase activating protein 32	gene	DOID:9005834	Ependymomas		ISO	RGD:1605412	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1305267	Arhgap32	Rho GTPase activating protein 32	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1305267	Arhgap32	Rho GTPase activating protein 32	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305267	Arhgap32	Rho GTPase activating protein 32	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305268	Amotl1	angiomotin-like 1	gene	DOID:0070791	craniofaciocardiohepatic syndrome		ISO	RGD:1313196	D	RGD:7240710	20250730	OMIM			
1305268	Amotl1	angiomotin-like 1	gene	DOID:0070791	craniofaciocardiohepatic syndrome		ISO	RGD:1313196	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CRANIOFACIOCARDIOHEPATIC SYNDROME | ClinVar Annotator: match by term: Craniofaciocardiohepatic syndrome	PMID:25741868|PMID:28492532|PMID:30375152|PMID:36116699|PMID:36751037
1305268	Amotl1	angiomotin-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305268	Amotl1	angiomotin-like 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1305268	Amotl1	angiomotin-like 1	gene	DOID:3070	high grade glioma		ISO	RGD:1313196	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34480788
1305268	Amotl1	angiomotin-like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313196	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305268	Amotl1	angiomotin-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313196	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305268	Amotl1	angiomotin-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305268	Amotl1	angiomotin-like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305268	Amotl1	angiomotin-like 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	
1305268	Amotl1	angiomotin-like 1	gene	DOID:674	cleft palate		ISO	RGD:1313196	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:30375152|PMID:36751037
1305268	Amotl1	angiomotin-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305268	Amotl1	angiomotin-like 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1313196	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34480788
1305268	Amotl1	angiomotin-like 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1313196	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: hypertelorism	PMID:25741868|PMID:28492532|PMID:33026150|PMID:36751037
1305268	Amotl1	angiomotin-like 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1313196	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34480788
1305268	Amotl1	angiomotin-like 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313196	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:30375152|PMID:36751037
1305268	Amotl1	angiomotin-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305268	Amotl1	angiomotin-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1604823	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:1909	melanoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:303	substance-related disorder		ISO	RGD:1604823	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:3070	high grade glioma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:3275	thymoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604823	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604823	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305269	Limch1	LIM and calponin homology domains 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:0060260	ptosis		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:0080600	COVID-19		ISO	RGD:1313199	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:0110391	retinitis pigmentosa 31		ISO	RGD:1313199	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:0110391	retinitis pigmentosa 31		ISO	RGD:1313199	D	RGD:7240710	20130425	OMIM			
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:0110391	retinitis pigmentosa 31		ISO	RGD:1313199	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 31 | ClinVar Annotator: match by term: TOPORS-related condition | ClinVar Annotator: match by term: TOPORS-related retinopathy	PMID:17924349|PMID:25741868|PMID:26720483|PMID:28492532|PMID:32531858|PMID:35579903
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:10283	prostate cancer		ISO	RGD:1313199	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:10283	prostate cancer		ISO	RGD:1313199	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313199	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:18509552|PMID:19373681|PMID:22334370|PMID:25741868|PMID:28041643|PMID:28166811|PMID:28492532|PMID:30718709
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:18509552|PMID:25741868|PMID:26720483|PMID:28041643|PMID:28492532|PMID:30718709
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313199	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:18509552|PMID:25741868|PMID:26720483|PMID:28492532|PMID:30718709
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:1115	sarcoma		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:11830	myopia		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:12849	autistic disorder		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:1826	epilepsy		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:2841	asthma		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:3347	osteosarcoma		ISO	RGD:1313199	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14767549
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:4448	macular degeneration		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy	PMID:25741868|PMID:26720483|PMID:28492532
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:480	movement disease		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:5723	optic atrophy		ISO	RGD:1313199	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:630	genetic disease		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17924349|PMID:18509552|PMID:22581970|PMID:23950152|PMID:25741868|PMID:26155838|PMID:26872967|PMID:28076437|PMID:28453362|PMID:28492532|PMID:32531858|PMID:35579903|PMID:37734845
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:9001510	Funnel Chest		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:9003507	Premature Birth		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:9005077	Joint Instability		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:9821	Choroideremia		ISO	RGD:1313199	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Choroideremia	PMID:25741868
1305270	Topors	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	gene	DOID:9834	hyperopia		ISO	RGD:1313199	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:26720483|PMID:28492532
1305273	Lims2	LIM zinc finger domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305273	Lims2	LIM zinc finger domain containing 2	gene	DOID:0110288	autosomal recessive limb-girdle muscular dystrophy type 2W		ISO	RGD:1313204	D	RGD:7240710	20190315	OMIM			
1305273	Lims2	LIM zinc finger domain containing 2	gene	DOID:0110288	autosomal recessive limb-girdle muscular dystrophy type 2W		ISO	RGD:1313204	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W | ClinVar Annotator: match by term: Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2W	PMID:16199547|PMID:17576681|PMID:25589244|PMID:25741868|PMID:28492532|PMID:9536098
1305273	Lims2	LIM zinc finger domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305273	Lims2	LIM zinc finger domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1313204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305273	Lims2	LIM zinc finger domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313204	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305273	Lims2	LIM zinc finger domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305273	Lims2	LIM zinc finger domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305274	Coa7	cytochrome c oxidase assembly factor 7	gene	DOID:0070465	autosomal recessive spinocerebellar ataxia with axonal neuropathy 3		ISO	RGD:1606511	D	RGD:7240710	20190515	OMIM			
1305274	Coa7	cytochrome c oxidase assembly factor 7	gene	DOID:0070465	autosomal recessive spinocerebellar ataxia with axonal neuropathy 3		ISO	RGD:1606511	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COA7-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	PMID:25741868|PMID:28492532
1305274	Coa7	cytochrome c oxidase assembly factor 7	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1606511	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1305274	Coa7	cytochrome c oxidase assembly factor 7	gene	DOID:630	genetic disease		ISO	RGD:1606511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0050581	brachydactyly		ISO	RGD:1313207	D	RGD:8554872	20170111	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0060764	autosomal recessive Robinow syndrome		ISO	RGD:1313207	D	RGD:11537348|PMID:24932600	20160930	RGD		DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0060764	autosomal recessive Robinow syndrome		ISO	RGD:1313207	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12815588|PMID:15952209
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0060764	autosomal recessive Robinow syndrome		ISO	RGD:1313207	D	RGD:7240710	20130221	OMIM			
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0060764	autosomal recessive Robinow syndrome		ISO	RGD:1313207	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive	PMID:10932186|PMID:10932187|PMID:18252861|PMID:18414213|PMID:19640924|PMID:25741868|PMID:26284319|PMID:27124789|PMID:28492532|PMID:31680123|PMID:35344616
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0060764	autosomal recessive Robinow syndrome		ISO	RGD:1313208	D	RGD:11535948|PMID:18353862	20160923	RGD		DNA:nonsense mutation:cds:p.W749X(mouse)	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0060764	autosomal recessive Robinow syndrome		ISO	RGD:1313208	D	RGD:11537347|PMID:14745966	20160930	RGD			
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0060764	autosomal recessive Robinow syndrome		ISS	RGD:1313208	D	RGD:13592920	20230718	MouseDO		OMIM:268310	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1313207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Guérin-Stern syndrome	PMID:25741868|PMID:28492532|PMID:31680123
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0110969	brachydactyly type B1		ISO	RGD:1313207	D	RGD:11535949|PMID:25696018	20160923	RGD		DNA:mutation:c.2273C>A; p.S758X (human)	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0110969	brachydactyly type B1		ISO	RGD:1313207	D	RGD:11535951|PMID:19461659	20160923	RGD		DNA:deletion mutation:exon:c.2243delC,p.W749fsX24(human)	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0110969	brachydactyly type B1		ISO	RGD:1313207	D	RGD:11535952|PMID:21377971	20160923	RGD		DNA:missense mutation:cds:c.2265C>A,p.Y755X(human)	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0110969	brachydactyly type B1		ISO	RGD:1313207	D	RGD:11535953|PMID:24954533	20160923	RGD		DNA:deletion:exon:c.1396-1398delAA, (human)	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0110969	brachydactyly type B1		ISO	RGD:1313207	D	RGD:11537345|PMID:23238279	20160930	RGD		DNA:nonsense mutation:cds:c.2278C>T, p.Q760X (human)	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0110969	brachydactyly type B1		ISO	RGD:1313207	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:12815588
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0110969	brachydactyly type B1		ISO	RGD:1313207	D	RGD:7240710	20130221	OMIM			
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0110969	brachydactyly type B1		ISO	RGD:1313207	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRACHYDACTYLY, TYPE B1 | ClinVar Annotator: match by term: Brachydactyly type B1 | ClinVar Annotator: match by term: ROR2-related condition	PMID:10932186|PMID:10932187|PMID:10986040|PMID:18252861|PMID:18414213|PMID:19640924|PMID:24932600|PMID:24954533|PMID:25741868|PMID:26284319|PMID:27124789|PMID:28492532|PMID:31680123|PMID:36294409|PMID:38504427
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1313207	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:25741868|PMID:28492532|PMID:31680123
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532|PMID:31680123
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:3086	gingival overgrowth		ISO	RGD:1313207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:630	genetic disease		ISO	RGD:1313207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18252861|PMID:25741868|PMID:26284319|PMID:28492532
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:674	cleft palate		ISO	RGD:1313207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:674	cleft palate	susceptibility	ISO	RGD:1313207	D	RGD:11535950|PMID:22490406	20160923	RGD		DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human)	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:9001951	Distal Symphalangism		ISO	RGD:1313207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal symphalangism	PMID:24932600|PMID:25741868|PMID:36294409|PMID:38504427
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1313207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1313207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1313207	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:39428718
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1313207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10932186|PMID:10932187|PMID:25741868|PMID:28492532|PMID:31680123|PMID:33937263
1305275	Ror2	receptor tyrosine kinase-like orphan receptor 2	gene	DOID:9296	cleft lip		ISO	RGD:1313207	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:0081013	severe COVID-19		ISO	RGD:1313212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe COVID-19	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:10534	stomach cancer		ISO	RGD:1313212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:1115	sarcoma		ISO	RGD:1313212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:2841	asthma		ISO	RGD:1313212	D	RGD:1331525|PMID:15118671	19990101	GAD			
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:2841	asthma		ISO	RGD:1313212	D	RGD:4145359|PMID:19940503	20101101	RGD		DNA:SNPs (human)	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:2841	asthma		ISO	RGD:1313213	D	RGD:4145360|PMID:19635592	20101101	RGD		mRNA:increased expression:lung	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:2841	asthma	disease_progression	ISO	RGD:1313212	D	RGD:4145380|PMID:17339047	20101102	RGD		mRNA:increased expression:bronchus	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:2841	asthma	no_association	ISO	RGD:1313212	D	RGD:4145382|PMID:16893396	20101102	RGD		DNA:SNPs:introns,exon:7575G>A, 11188A>T, 12433T>C (human)	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1313212	D	RGD:4145378|PMID:18778489	20101102	RGD		DNA:SNPs: :multiple (human)	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1313212	D	RGD:4145379|PMID:17961406	20101102	RGD		DNA:polymorphism: :p.M764T (human)	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1313212	D	RGD:4145361|PMID:19284602	20101101	RGD		DNA:polymorphisms: :multiple (human)	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:3083	chronic obstructive pulmonary disease	no_association	ISO	RGD:1313212	D	RGD:4145358|PMID:20156753	20101101	RGD		DNA:polymorphisms (human)	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1313212	D	RGD:4145357|PMID:20003279	20101101	RGD		DNA:polymorphisms: :multiple (human)	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:4362	cervical cancer		ISO	RGD:1313212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:1313212	D	RGD:4145378|PMID:18778489	20101102	RGD		DNA:SNPs: :multiple (human)	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:1313212	D	RGD:4145383|PMID:15298558	20101102	RGD		DNA:SNPs: :multiple (human)	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:5041	esophageal cancer		ISO	RGD:1313212	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:6039	uveal melanoma		ISO	RGD:1313212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1313212	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17061022
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1313212	D	RGD:1331525|PMID:15118671	19990101	GAD			
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:9006928	Viral Bronchiolitis	susceptibility	ISO	RGD:1313212	D	RGD:4142862|PMID:19258923	20101101	RGD		DNA:SNP: :rs2787094 c.2891G>C (human)	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305278	Adam33	ADAM metallopeptidase domain 33	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313212	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:30226539
1305279	Cherp	calcium homeostasis endoplasmic reticulum protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305279	Cherp	calcium homeostasis endoplasmic reticulum protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305279	Cherp	calcium homeostasis endoplasmic reticulum protein	gene	DOID:3275	thymoma		ISO	RGD:1313214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305279	Cherp	calcium homeostasis endoplasmic reticulum protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305279	Cherp	calcium homeostasis endoplasmic reticulum protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305279	Cherp	calcium homeostasis endoplasmic reticulum protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305280	Dazap1	DAZ associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305280	Dazap1	DAZ associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305280	Dazap1	DAZ associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305280	Dazap1	DAZ associated protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1313216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305280	Dazap1	DAZ associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1313216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305280	Dazap1	DAZ associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305280	Dazap1	DAZ associated protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305280	Dazap1	DAZ associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305280	Dazap1	DAZ associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305280	Dazap1	DAZ associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305280	Dazap1	DAZ associated protein 1	gene	DOID:9006737	Monoclonal B-Cell Lymphocytosis		ISO	RGD:1313216	D	RGD:8554872	20160322	ClinVar		ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis	
1305280	Dazap1	DAZ associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305280	Dazap1	DAZ associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305283	Cmc1	C-x(9)-C motif containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305283	Cmc1	C-x(9)-C motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305283	Cmc1	C-x(9)-C motif containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305283	Cmc1	C-x(9)-C motif containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305283	Cmc1	C-x(9)-C motif containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305283	Cmc1	C-x(9)-C motif containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606956	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305283	Cmc1	C-x(9)-C motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305283	Cmc1	C-x(9)-C motif containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305283	Cmc1	C-x(9)-C motif containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305284	Zfp512b	zinc finger protein 512B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305284	Zfp512b	zinc finger protein 512B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305284	Zfp512b	zinc finger protein 512B	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1606523	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1305284	Zfp512b	zinc finger protein 512B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305284	Zfp512b	zinc finger protein 512B	gene	DOID:3070	high grade glioma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305284	Zfp512b	zinc finger protein 512B	gene	DOID:3275	thymoma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305284	Zfp512b	zinc finger protein 512B	gene	DOID:4362	cervical cancer		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305284	Zfp512b	zinc finger protein 512B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305284	Zfp512b	zinc finger protein 512B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305284	Zfp512b	zinc finger protein 512B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305284	Zfp512b	zinc finger protein 512B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305284	Zfp512b	zinc finger protein 512B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305284	Zfp512b	zinc finger protein 512B	gene	DOID:9256	colorectal cancer		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305285	Postn	periostin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305285	Postn	periostin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305285	Postn	periostin	gene	DOID:0060500	drug allergy		ISO	RGD:1313223	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18391768
1305285	Postn	periostin	gene	DOID:0080010	bone structure disease		ISS	RGD:1313224	D	RGD:13592920	20180518	MouseDO			
1305285	Postn	periostin	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:1313223	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18391768
1305285	Postn	periostin	gene	DOID:10534	stomach cancer		ISO	RGD:1313223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305285	Postn	periostin	gene	DOID:10763	hypertension		IEP		D	RGD:10041050|PMID:21712488	20150511	RGD		associated with Renal Insufficiency, Chronic; protein:increased expression:left ventricle:	
1305285	Postn	periostin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305285	Postn	periostin	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:1313223	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363622
1305285	Postn	periostin	gene	DOID:11723	Duchenne muscular dystrophy		ISO	RGD:1313223	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21641384
1305285	Postn	periostin	gene	DOID:1324	lung cancer		ISO	RGD:1313223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305285	Postn	periostin	gene	DOID:1474	aggressive periodontitis		ISS	RGD:1313224	D	RGD:13592920	20180518	MouseDO		OMIM:170650 | OMIM:608526	
1305285	Postn	periostin	gene	DOID:1909	melanoma		ISO	RGD:1313223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305285	Postn	periostin	gene	DOID:3275	thymoma		ISO	RGD:1313223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305285	Postn	periostin	gene	DOID:4362	cervical cancer		ISO	RGD:1313223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305285	Postn	periostin	gene	DOID:5041	esophageal cancer		ISO	RGD:1313223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305285	Postn	periostin	gene	DOID:5082	liver cirrhosis		ISO	RGD:1313223	D	RGD:11554173	20200908	CTD		CTD Direct Evidence: marker/mechanism	PMID:32344006
1305285	Postn	periostin	gene	DOID:5199	ureteral obstruction		ISO	RGD:1313224	D	RGD:10040972|PMID:22167593	20150507	RGD		mRNA,protein:increased expression:kidney:	
1305285	Postn	periostin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305285	Postn	periostin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305285	Postn	periostin	gene	DOID:5844	myocardial infarction		IEP		D	RGD:10041024|PMID:24212842	20150508	RGD		protein:increased expression:heart:	
1305285	Postn	periostin	gene	DOID:6000	congestive heart failure	treatment	IMP		D	RGD:10040999|PMID:15381649	20150507	RGD			
1305285	Postn	periostin	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:1313223	D	RGD:10040951|PMID:16414453	20150506	RGD		mRNA:increased expression:heart	
1305285	Postn	periostin	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1313223	D	RGD:10041046|PMID:24260297	20150511	RGD		protein:increased expression:aorta:	
1305285	Postn	periostin	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1313224	D	RGD:10041046|PMID:24260297	20150511	RGD		protein:increased expression:aorta:	
1305285	Postn	periostin	gene	DOID:783	end stage renal disease		IEP		D	RGD:10040972|PMID:22167593	20150507	RGD		mRNA,protein:increased expression,increased secretion:kidney,urine:	
1305285	Postn	periostin	gene	DOID:784	chronic kidney disease		ISO	RGD:1313223	D	RGD:10040972|PMID:22167593	20150507	RGD		protein:increased secretion:urine:	
1305285	Postn	periostin	gene	DOID:784	chronic kidney disease		ISO	RGD:1313223	D	RGD:10041032|PMID:22403621	20150508	RGD		protein:increased expression:kidney:	
1305285	Postn	periostin	gene	DOID:824	periodontitis		IEP		D	RGD:10041024|PMID:24212842	20150508	RGD		protein:decreased expression:mandible:	
1305285	Postn	periostin	gene	DOID:90	degenerative disc disease		IEP		D	RGD:10040995|PMID:23453657	20150507	RGD		protein:increased expression:tail intervertebral disc:	
1305285	Postn	periostin	gene	DOID:90	degenerative disc disease		ISO	RGD:1313223	D	RGD:10040995|PMID:23453657	20150507	RGD		mRNA,protein:increased expression:nucleus pulposus:	
1305285	Postn	periostin	gene	DOID:9001600	Wounds and Injuries		IEP		D	RGD:10040991|PMID:22681660	20150507	RGD		protein:increased expression:skin:	
1305285	Postn	periostin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1313224	D	RGD:10040972|PMID:22167593	20150507	RGD		mRNA,protein:increased expression:kidney:	
1305285	Postn	periostin	gene	DOID:9003234	Hypertensive Nephropathy	disease_progression	IEP		D	RGD:10041032|PMID:22403621	20150508	RGD		mRNA,protein:increased expression:kidney:	
1305285	Postn	periostin	gene	DOID:9003936	Cardiomegaly	severity	IEP		D	RGD:10040951|PMID:16414453	20150506	RGD		mRNA,protein:increased expression:left ventricle:	
1305285	Postn	periostin	gene	DOID:9004498	Cumulative Trauma Disorders		IEP		D	RGD:10040958|PMID:19620321	20150506	RGD		protein:increased expression:tendon,muscle,nerve:	
1305285	Postn	periostin	gene	DOID:9006182	Carotid Artery Injuries		IEP		D	RGD:10040973|PMID:15514205	20150507	RGD		mRNA,protein:increased expression:artery:	
1305285	Postn	periostin	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1313223	D	RGD:38596342|PMID:28471975	20201023	RGD		mRNA,protein:increased expression:nasal mucus	
1305285	Postn	periostin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305285	Postn	periostin	gene	DOID:9007039	Ventricular Dysfunction		IDA		D	RGD:10040999|PMID:15381649	20150507	RGD			
1305285	Postn	periostin	gene	DOID:9007621	Craniocerebral Trauma		IEP		D	RGD:10041014|PMID:17878602	20150508	RGD			
1305285	Postn	periostin	gene	DOID:9008331	Tendon Injuries		IEP		D	RGD:10041033|PMID:23149902	20150508	RGD		protein:increased expression:achilles tendon:	
1305285	Postn	periostin	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1313223	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15731169
1305285	Postn	periostin	gene	DOID:9008763	Femoral Fractures		IEP		D	RGD:10040956|PMID:19006175	20150506	RGD		mRNA,protein:increased expression:bone:	
1305285	Postn	periostin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305285	Postn	periostin	gene	DOID:971	tendinitis		IEP		D	RGD:2314473|PMID:19743505	20150508	RGD		protein:increased expression:peritendon:	
1305286	Plag1	PLAG1 zinc finger	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305286	Plag1	PLAG1 zinc finger	gene	DOID:1059	intellectual disability		ISO	RGD:1313225	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1305286	Plag1	PLAG1 zinc finger	gene	DOID:14681	Silver-Russell syndrome		ISO	RGD:1313225	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Russell-Silver syndrome	PMID:25741868
1305286	Plag1	PLAG1 zinc finger	gene	DOID:1909	melanoma		ISO	RGD:1313225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305286	Plag1	PLAG1 zinc finger	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1313225	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1305286	Plag1	PLAG1 zinc finger	gene	DOID:452	pleomorphic adenoma		ISO	RGD:1313225	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305286	Plag1	PLAG1 zinc finger	gene	DOID:452	pleomorphic adenoma		ISO	RGD:1313225	D	RGD:1599086|PMID:10029085	20070116	RGD			
1305286	Plag1	PLAG1 zinc finger	gene	DOID:452	pleomorphic adenoma		ISO	RGD:1313225	D	RGD:7240710	20130221	OMIM			
1305286	Plag1	PLAG1 zinc finger	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305286	Plag1	PLAG1 zinc finger	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305286	Plag1	PLAG1 zinc finger	gene	DOID:630	genetic disease		ISO	RGD:1313225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305286	Plag1	PLAG1 zinc finger	gene	DOID:9002587	Silver-Russell Syndrome 4		ISO	RGD:1313225	D	RGD:7240710	20200701	OMIM			
1305286	Plag1	PLAG1 zinc finger	gene	DOID:9002587	Silver-Russell Syndrome 4		ISO	RGD:1313225	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PLAG1-related condition | ClinVar Annotator: match by term: SILVER-RUSSELL SYNDROME 4 | ClinVar Annotator: match by term: Silver-russell syndrome 4	PMID:25741868
1305286	Plag1	PLAG1 zinc finger	gene	DOID:9006311	Lipoblastoma		ISO	RGD:1313225	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16308870
1305287	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:1324	lung cancer		ISO	RGD:1604576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1305287	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:1612	breast cancer		ISO	RGD:1604576	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Hereditary breast cancer, ABRAXAS1-related	PMID:25741868|PMID:28492532
1305287	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:3459	breast carcinoma		ISO	RGD:1604576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25503501|PMID:28492532
1305287	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1604576	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532|PMID:32566746
1305287	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1604576	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532
1305287	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305287	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305287	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604576	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:24240112|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28166811|PMID:28492532|PMID:31159747|PMID:31361614|PMID:31980526
1305287	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604576	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17525340|PMID:17643121|PMID:22357538|PMID:24240112|PMID:25503501|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28492532|PMID:31000350|PMID:31159747|PMID:31361614|PMID:31630195|PMID:31980526|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34117267
1305287	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604576	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17525340|PMID:17643121|PMID:22357538|PMID:24240112|PMID:25503501|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28492532|PMID:31000350|PMID:31159747|PMID:31248605|PMID:31361614|PMID:31630195|PMID:31980526|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34117267
1305287	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604576	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17525340|PMID:17643121|PMID:24240112|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28492532|PMID:31159747|PMID:31248605|PMID:31361614|PMID:31980526|PMID:33471991|PMID:34117267
1305287	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604576	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17525340|PMID:17643121|PMID:24240112|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28492532|PMID:31159747|PMID:31361614|PMID:31980526|PMID:33471991
1305287	Abraxas1	abraxas 1, BRCA1 A complex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305288	Haus4	HAUS augmin-like complex, subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305288	Haus4	HAUS augmin-like complex, subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305289	Tubal3	tubulin, alpha-like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1313230	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305289	Tubal3	tubulin, alpha-like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305290	Rpp25	ribonuclease P/MRP subunit p25	gene	DOID:12849	autistic disorder		ISO	RGD:1313231	D	RGD:9743931|PMID:20632321	20150220	RGD		mRNA:decreased expression:prefrontal cortex	
1305291	Rasip1	Ras interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305291	Rasip1	Ras interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1313233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305291	Rasip1	Ras interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1313233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305291	Rasip1	Ras interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305291	Rasip1	Ras interacting protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1313233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305291	Rasip1	Ras interacting protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305291	Rasip1	Ras interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305292	Incenp	inner centromere protein	gene	DOID:10534	stomach cancer		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305292	Incenp	inner centromere protein	gene	DOID:12712	nephronophthisis		ISO	RGD:1313235	D	RGD:8554872	20180807	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:26489029
1305292	Incenp	inner centromere protein	gene	DOID:1324	lung cancer		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305292	Incenp	inner centromere protein	gene	DOID:1909	melanoma		ISO	RGD:1313235	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1305292	Incenp	inner centromere protein	gene	DOID:1909	melanoma		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305292	Incenp	inner centromere protein	gene	DOID:3070	high grade glioma		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305292	Incenp	inner centromere protein	gene	DOID:3275	thymoma		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305292	Incenp	inner centromere protein	gene	DOID:4362	cervical cancer		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305292	Incenp	inner centromere protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305292	Incenp	inner centromere protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305292	Incenp	inner centromere protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305292	Incenp	inner centromere protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313235	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1305292	Incenp	inner centromere protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305292	Incenp	inner centromere protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305292	Incenp	inner centromere protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305293	Fkbp7	FKBP prolyl isomerase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1313236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305293	Fkbp7	FKBP prolyl isomerase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305293	Fkbp7	FKBP prolyl isomerase 7	gene	DOID:1324	lung cancer		ISO	RGD:1313236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305293	Fkbp7	FKBP prolyl isomerase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1313236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305293	Fkbp7	FKBP prolyl isomerase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305293	Fkbp7	FKBP prolyl isomerase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305293	Fkbp7	FKBP prolyl isomerase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:10763	hypertension		IEP		D	RGD:10755511|PMID:12708758	20160129	RGD		mRNA:increased expression:heart left ventricle	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:1591	renovascular hypertension		IEP		D	RGD:10755511|PMID:12708758	20160129	RGD		mRNA:increased expression:heart left ventricle	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:3275	thymoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313238	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305294	Eif4g2	eukaryotic translation initiation factor 4, gamma 2	gene	DOID:916	liver benign neoplasm		ISO	RGD:1313239	D	RGD:10755510|PMID:9633945	20160129	RGD			
1305295	Wfdc3	WAP four-disulfide core domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305295	Wfdc3	WAP four-disulfide core domain 3	gene	DOID:1324	lung cancer		ISO	RGD:1313240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305295	Wfdc3	WAP four-disulfide core domain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1313240	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305295	Wfdc3	WAP four-disulfide core domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305295	Wfdc3	WAP four-disulfide core domain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305295	Wfdc3	WAP four-disulfide core domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305296	R3hdml	R3H domain containing-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305296	R3hdml	R3H domain containing-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305297	Rlf	RLF zinc finger	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305297	Rlf	RLF zinc finger	gene	DOID:1115	sarcoma		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305297	Rlf	RLF zinc finger	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305297	Rlf	RLF zinc finger	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305297	Rlf	RLF zinc finger	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305299	Arid3a	AT-rich interaction domain 3A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305299	Arid3a	AT-rich interaction domain 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313245	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305299	Arid3a	AT-rich interaction domain 3A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305299	Arid3a	AT-rich interaction domain 3A	gene	DOID:1324	lung cancer		ISO	RGD:1313245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305299	Arid3a	AT-rich interaction domain 3A	gene	DOID:1909	melanoma		ISO	RGD:1313245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305299	Arid3a	AT-rich interaction domain 3A	gene	DOID:3275	thymoma		ISO	RGD:1313245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305299	Arid3a	AT-rich interaction domain 3A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305299	Arid3a	AT-rich interaction domain 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305299	Arid3a	AT-rich interaction domain 3A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305299	Arid3a	AT-rich interaction domain 3A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313245	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35179300
1305299	Arid3a	AT-rich interaction domain 3A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305299	Arid3a	AT-rich interaction domain 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:10283	prostate cancer		ISO	RGD:1313249	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:10283	prostate cancer		ISO	RGD:1313249	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:3070	high grade glioma		ISO	RGD:1313249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:3275	thymoma		ISO	RGD:1313249	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:3459	breast carcinoma		ISO	RGD:1313249	D	RGD:11041882|PMID:23556449	20160331	RGD		mRNA:increased expression:breast (human)	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1313249	D	RGD:11046260|PMID:18788636	20160404	RGD		mRNA, protein:increased expression:lung (human)	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1313249	D	RGD:11041871|PMID:19657357	20160330	RGD		DNA:mutations:multiple (human)	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313249	D	RGD:11041873|PMID:21932399	20160330	RGD		mRNA:increased expression:liver (human)	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1313249	D	RGD:11041887|PMID:22294766	20160401	RGD		mRNA:increased expression:colorectal mucosa (human)	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1313249	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313249	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305301	Abce1	ATP binding cassette subfamily E member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1313249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305302	Cdkn2aip	CDKN2A interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305302	Cdkn2aip	CDKN2A interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305302	Cdkn2aip	CDKN2A interacting protein	gene	DOID:10283	prostate cancer		ISO	RGD:1604354	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305302	Cdkn2aip	CDKN2A interacting protein	gene	DOID:10283	prostate cancer		ISO	RGD:1604354	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305302	Cdkn2aip	CDKN2A interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1604354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305302	Cdkn2aip	CDKN2A interacting protein	gene	DOID:1909	melanoma		ISO	RGD:1604354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305302	Cdkn2aip	CDKN2A interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:1313252	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinopathy of prematurity	PMID:12637671|PMID:12925671|PMID:17544092|PMID:17893200|PMID:19663824|PMID:20621347|PMID:21057262|PMID:23538514|PMID:25344726|PMID:25741868|PMID:26472314|PMID:28492532
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1313252	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Congenital dyserythropoietic anemia	PMID:25741868
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:2051	maxillary sinusitis		ISO	RGD:1313252	D	RGD:632517858|PMID:25707370	20260130	RGD		DNA:SNP: :c.1282G>A (p.Ala428Thr)	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:2316	brain ischemia		IEP		D	RGD:7495802|PMID:21925238	20131213	RGD		mRNA, protein:increased expression:cerebral cortex	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:2841	asthma		ISO	RGD:1313252	D	RGD:632517864|PMID:33020954	20260130	RGD		DNA:SNP:intron:rs4251513	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:4481	allergic rhinitis	sexual_dimorphism	ISO	RGD:1313252	D	RGD:632517861|PMID:21738793	20260130	RGD		DNA:SNPs: :rs4251431, rs6582484	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:4481	allergic rhinitis	susceptibility	ISO	RGD:1313252	D	RGD:632517861|PMID:21738793	20260130	RGD		DNA:SNP: :rs3794262	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9000113	Pneumococcal Meningitis	disease_progression	ISO	RGD:1313252	D	RGD:632517876|PMID:27432718	20260130	RGD		DNA:SNP, haplotype:3' utr:rs4251552	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313252	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16537705
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:1313252	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21925238
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9003909	Immunodeficiency 67		ISO	RGD:1313252	D	RGD:11251272|PMID:26075815	20260130	RGD		associated with Systemic Inflammatory Response Syndrome;DNA: SNPs: : rs4251513, rs1461567	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9003909	Immunodeficiency 67		ISO	RGD:1313252	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9003909	Immunodeficiency 67		ISO	RGD:1313252	D	RGD:7240710	20130221	OMIM			
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9003909	Immunodeficiency 67		ISO	RGD:1313252	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 67 | ClinVar Annotator: match by term: IRAK4-related disorder | ClinVar Annotator: match by term: Immunodeficiency 67	PMID:12637671|PMID:12925671|PMID:16199547|PMID:16647421|PMID:16950813|PMID:17312103|PMID:17544092|PMID:17576681|PMID:17878374|PMID:17893200|PMID:19663824|PMID:19814626|PMID:20621347|PMID:21057262|PMID:23538514|PMID:24316379|PMID:25344726|PMID:25741868|PMID:26472314|PMID:26698383|PMID:28492532|PMID:30073964|PMID:32047491|PMID:33083971|PMID:9536098
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9003909	Immunodeficiency 67	no_association	ISO	RGD:1313252	D	RGD:632517868|PMID:25886387	20260130	RGD		DNA:SNPs: :multiple	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9004384	Bacterial Infections and Mycoses	susceptibility	ISO	RGD:1313252	D	RGD:1600199|PMID:12637671	20070302	RGD		deficiency of IRAK4/extracellular pyogenic bacterial and fungal infections, OMIM:607676	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9004484	Sepsis		IEP		D	RGD:7495805|PMID:23073793	20131213	RGD			
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1313253	D	RGD:632517874|PMID:36076574	20260130	RGD		associated with adult respiratory distress syndrome	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1313253	D	RGD:632517877|PMID:28363843	20260130	RGD			
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313252	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:12637671|PMID:12925671|PMID:17544092|PMID:17893200|PMID:19663824|PMID:20621347|PMID:21057262|PMID:23538514|PMID:25344726|PMID:25741868|PMID:26472314|PMID:28492532
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9006095	Ascites		ISO	RGD:1313252	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:12637671|PMID:12925671|PMID:17544092|PMID:17893200|PMID:19663824|PMID:20621347|PMID:21057262|PMID:23538514|PMID:25344726|PMID:25741868|PMID:26472314|PMID:28492532
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1313252	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:28003376
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9007480	Hyperoxia		ISO	RGD:1313253	D	RGD:7495804|PMID:15622543	20131213	RGD			
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9008727	Ige Responsiveness, Atopic	susceptibility	ISO	RGD:1313252	D	RGD:632517859|PMID:19254290	20260130	RGD		associated with chronic rhinosinusitis;DNA:SNPs:intron:rs1461567, rs4251513	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1313252	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:28003376
1305303	Irak4	interleukin-1 receptor-associated kinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305304	Etnk2	ethanolamine kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305304	Etnk2	ethanolamine kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305304	Etnk2	ethanolamine kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305304	Etnk2	ethanolamine kinase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305304	Etnk2	ethanolamine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305304	Etnk2	ethanolamine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305304	Etnk2	ethanolamine kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305305	Ube2q1	ubiquitin conjugating enzyme E2 Q1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305305	Ube2q1	ubiquitin conjugating enzyme E2 Q1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305305	Ube2q1	ubiquitin conjugating enzyme E2 Q1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313256	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305305	Ube2q1	ubiquitin conjugating enzyme E2 Q1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305305	Ube2q1	ubiquitin conjugating enzyme E2 Q1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305305	Ube2q1	ubiquitin conjugating enzyme E2 Q1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305306	Epb42	erythrocyte membrane protein band 4.2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305306	Epb42	erythrocyte membrane protein band 4.2	gene	DOID:0110916	hereditary spherocytosis type 1		ISS	RGD:1313259	D	RGD:13592920	20180518	MouseDO		OMIM:182900	
1305306	Epb42	erythrocyte membrane protein band 4.2	gene	DOID:0110920	hereditary spherocytosis type 5		ISO	RGD:1313258	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305306	Epb42	erythrocyte membrane protein band 4.2	gene	DOID:0110920	hereditary spherocytosis type 5		ISO	RGD:1313258	D	RGD:7240710	20130221	OMIM			
1305306	Epb42	erythrocyte membrane protein band 4.2	gene	DOID:0110920	hereditary spherocytosis type 5		ISO	RGD:1313258	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPB42-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 5	PMID:10406914|PMID:10629586|PMID:1558976|PMID:19508687|PMID:20179084|PMID:25741868|PMID:28492532|PMID:7772513|PMID:7803799|PMID:7819064|PMID:8542017
1305306	Epb42	erythrocyte membrane protein band 4.2	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1313258	D	RGD:1598910|PMID:1558976	20061221	RGD			
1305306	Epb42	erythrocyte membrane protein band 4.2	gene	DOID:1324	lung cancer		ISO	RGD:1313258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305306	Epb42	erythrocyte membrane protein band 4.2	gene	DOID:630	genetic disease		ISO	RGD:1313258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:39760301
1305310	Neto2	neuropilin and tolloid like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305310	Neto2	neuropilin and tolloid like 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1313264	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1305310	Neto2	neuropilin and tolloid like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1313264	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305310	Neto2	neuropilin and tolloid like 2	gene	DOID:10283	prostate cancer		ISO	RGD:1313264	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305310	Neto2	neuropilin and tolloid like 2	gene	DOID:10283	prostate cancer		ISO	RGD:1313264	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305310	Neto2	neuropilin and tolloid like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305310	Neto2	neuropilin and tolloid like 2	gene	DOID:1115	sarcoma		ISO	RGD:1313264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305310	Neto2	neuropilin and tolloid like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305310	Neto2	neuropilin and tolloid like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1313264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305310	Neto2	neuropilin and tolloid like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305310	Neto2	neuropilin and tolloid like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313264	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305310	Neto2	neuropilin and tolloid like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305310	Neto2	neuropilin and tolloid like 2	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1313264	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1305310	Neto2	neuropilin and tolloid like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305311	Drc11	dynein regulatory complex subunit 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349054	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305311	Drc11	dynein regulatory complex subunit 11	gene	DOID:10534	stomach cancer		ISO	RGD:1349054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305311	Drc11	dynein regulatory complex subunit 11	gene	DOID:1115	sarcoma		ISO	RGD:1349054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305311	Drc11	dynein regulatory complex subunit 11	gene	DOID:1324	lung cancer		ISO	RGD:1349054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305311	Drc11	dynein regulatory complex subunit 11	gene	DOID:3275	thymoma		ISO	RGD:1349054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305311	Drc11	dynein regulatory complex subunit 11	gene	DOID:4362	cervical cancer		ISO	RGD:1349054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305311	Drc11	dynein regulatory complex subunit 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1349054	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305311	Drc11	dynein regulatory complex subunit 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305311	Drc11	dynein regulatory complex subunit 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305311	Drc11	dynein regulatory complex subunit 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305313	Cnot7	CCR4-NOT transcription complex, subunit 7	gene	DOID:12336	male infertility		IEP		D	RGD:10755341|PMID:22785219	20160125	RGD		mRNA:increased expression:testis	
1305313	Cnot7	CCR4-NOT transcription complex, subunit 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305313	Cnot7	CCR4-NOT transcription complex, subunit 7	gene	DOID:3275	thymoma		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305313	Cnot7	CCR4-NOT transcription complex, subunit 7	gene	DOID:4362	cervical cancer		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305313	Cnot7	CCR4-NOT transcription complex, subunit 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305313	Cnot7	CCR4-NOT transcription complex, subunit 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305313	Cnot7	CCR4-NOT transcription complex, subunit 7	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305313	Cnot7	CCR4-NOT transcription complex, subunit 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305313	Cnot7	CCR4-NOT transcription complex, subunit 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305314	Zfp518a	zinc finger protein 518A	gene	DOID:1115	sarcoma		ISO	RGD:1348764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305314	Zfp518a	zinc finger protein 518A	gene	DOID:4362	cervical cancer		ISO	RGD:1348764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305314	Zfp518a	zinc finger protein 518A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348764	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305314	Zfp518a	zinc finger protein 518A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305314	Zfp518a	zinc finger protein 518A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1305314	Zfp518a	zinc finger protein 518A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305315	Rnf115	ring finger protein 115	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305315	Rnf115	ring finger protein 115	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313271	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25751625
1305316	Btd	biotinidase	gene	DOID:0050810	biotin deficiency		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Biotin deficiency	PMID:10801060|PMID:11313766|PMID:11668630|PMID:12359137|PMID:15060693|PMID:17382128|PMID:19728141|PMID:22698809|PMID:24797656|PMID:25174816|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27378695|PMID:28492532|PMID:28498829|PMID:29359854|PMID:30616616|PMID:31337602|PMID:31618753|PMID:36413997|PMID:9396567|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:0060260	ptosis		ISO	RGD:1313273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:26810761|PMID:28492532
1305316	Btd	biotinidase	gene	DOID:0080016	spina bifida		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spinal dysraphism	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:1059	intellectual disability		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:1313766|PMID:14628140|PMID:15776412|PMID:17185019|PMID:20224900|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22698809|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:24797656|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25423671|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27378695|PMID:27657684|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:28971021|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:36413997|PMID:9232193|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:11383	cryptorchidism		ISO	RGD:1313273	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1305316	Btd	biotinidase	gene	DOID:11830	myopia		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Trigeminal neuralgia	PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12618081|PMID:1313766|PMID:14628140|PMID:17185019|PMID:20224900|PMID:20301497|PMID:22698809|PMID:23644139|PMID:24797656|PMID:25423671|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27657684|PMID:28492532|PMID:28498829|PMID:28971021|PMID:29359854|PMID:33312878|PMID:9232193|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:12849	autistic disorder		ISO	RGD:1313273	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:13680408
1305316	Btd	biotinidase	gene	DOID:1826	epilepsy		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:1891	optic nerve disease		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic neuropathy	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:1924	hypogonadism		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:255	hemangioma		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:5723	optic atrophy		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12618081|PMID:1313766|PMID:14628140|PMID:17185019|PMID:20224900|PMID:20301497|PMID:22698809|PMID:23644139|PMID:24797656|PMID:25423671|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27657684|PMID:28492532|PMID:28498829|PMID:28971021|PMID:29359854|PMID:33312878|PMID:9232193|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:630	genetic disease		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:1313766|PMID:14628140|PMID:15776412|PMID:17185019|PMID:20083419|PMID:20224900|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22698809|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:24797656|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25423671|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27378695|PMID:27657684|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:28971021|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:31801038|PMID:33312878|PMID:34136440|PMID:34374989|PMID:36413997|PMID:9232193|PMID:9375914|PMID:9396567|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:856	biotinidase deficiency		ISO	RGD:1313273	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305316	Btd	biotinidase	gene	DOID:856	biotinidase deficiency		ISO	RGD:1313273	D	RGD:7240710	20130221	OMIM			
1305316	Btd	biotinidase	gene	DOID:856	biotinidase deficiency		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BIOTINIDASE DEFICIENCY | ClinVar Annotator: match by term: BTD-related condition | ClinVar Annotator: match by term: Biotinidase deficiency | ClinVar Annotator: match by term: Late-onset biotin-responsive multiple carboxylase deficiency | ClinVar Annotator: match by term: biotinidase deficiency	PMID:10206677|PMID:10394193|PMID:10400129|PMID:10655158|PMID:10801053|PMID:10801060|PMID:11313766|PMID:11380987|PMID:11668630|PMID:11865279|PMID:12227467|PMID:12359137|PMID:12618081|PMID:1313766|PMID:14628140|PMID:14707518|PMID:15059618|PMID:15060693|PMID:15776412|PMID:16199547|PMID:16435182|PMID:17092467|PMID:17185019|PMID:17382128|PMID:17576681|PMID:18645204|PMID:19728141|PMID:19757147|PMID:20083419|PMID:20224900|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:21752405|PMID:21907891|PMID:22011816|PMID:22698809|PMID:22975760|PMID:22995991|PMID:23481307|PMID:23644139|PMID:23971085|PMID:24033266|PMID:24066991|PMID:24123366|PMID:24516753|PMID:24525934|PMID:24797656|PMID:24932929|PMID:25087612|PMID:25144890|PMID:25174816|PMID:25333069|PMID:25423671|PMID:25741868|PMID:25754625|PMID:25795614|PMID:25954003|PMID:25967232|PMID:26203071|PMID:26334177|PMID:26361991|PMID:26467025|PMID:26589311|PMID:26635394|PMID:26656798|PMID:26810761|PMID:26990548|PMID:27207447|PMID:27329734|PMID:27378695|PMID:27535533|PMID:27618451|PMID:27625817|PMID:27629047|PMID:27657684|PMID:27760515|PMID:27845546|PMID:28220409|PMID:28281033|PMID:28490743|PMID:28492532|PMID:28498829|PMID:28649532|PMID:28649539|PMID:28682309|PMID:28971021|PMID:29353266|PMID:29359854|PMID:29728376|PMID:29995633|PMID:30616616|PMID:30912303|PMID:31035122|PMID:31208052|PMID:31337602|PMID:31618753|PMID:31801038|PMID:31973013|PMID:31980526|PMID:32300527|PMID:33016994|PMID:33123633|PMID:33134520|PMID:33189081|PMID:33217065|PMID:33223529|PMID:33312878|PMID:34107619|PMID:34136440|PMID:34166817|PMID:34374989|PMID:34448386|PMID:35167647|PMID:35195902|PMID:35627187|PMID:35805799|PMID:36198807|PMID:36413997|PMID:36684547|PMID:37279760|PMID:37443404|PMID:37564434|PMID:38141137|PMID:38299772|PMID:38943247|PMID:39033936|PMID:39439447|PMID:39451125|PMID:39461572|PMID:39582447|PMID:39688110|PMID:40700042|PMID:41002989|PMID:7550325|PMID:9099842|PMID:9158148|PMID:9232193|PMID:9375914|PMID:9396567|PMID:9506660|PMID:9536098|PMID:9654207|PMID:9705240
1305316	Btd	biotinidase	gene	DOID:856	biotinidase deficiency		ISS	RGD:1313274	D	RGD:13592920	20230718	MouseDO		OMIM:253260	
1305316	Btd	biotinidase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:9003539	Hyperacusis		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305316	Btd	biotinidase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1313273	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15469856
1305316	Btd	biotinidase	gene	DOID:9007661	Dwarfism		ISO	RGD:1313273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26810761|PMID:28492532
1305316	Btd	biotinidase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:9008173	Paraparesis		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Paraparesis	PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12618081|PMID:1313766|PMID:14628140|PMID:17185019|PMID:20224900|PMID:20301497|PMID:22698809|PMID:23644139|PMID:24797656|PMID:25423671|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27657684|PMID:28492532|PMID:28498829|PMID:28971021|PMID:29359854|PMID:33312878|PMID:9232193|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:9834	hyperopia		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305316	Btd	biotinidase	gene	DOID:9970	obesity		ISO	RGD:1313273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:22975760|PMID:22995991|PMID:23644139|PMID:24525934|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27845546|PMID:28492532|PMID:28498829|PMID:28682309|PMID:29353266|PMID:29359854|PMID:31208052|PMID:31337602|PMID:33312878|PMID:34374989|PMID:9375914|PMID:9654207
1305317	Cntrl	centriolin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305317	Cntrl	centriolin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305317	Cntrl	centriolin	gene	DOID:0060058	lymphoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305317	Cntrl	centriolin	gene	DOID:10534	stomach cancer		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305317	Cntrl	centriolin	gene	DOID:1115	sarcoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305317	Cntrl	centriolin	gene	DOID:12712	nephronophthisis		ISS	RGD:1557555	D	RGD:13592920	20180518	MouseDO			
1305317	Cntrl	centriolin	gene	DOID:2394	ovarian cancer		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305317	Cntrl	centriolin	gene	DOID:3275	thymoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305317	Cntrl	centriolin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305317	Cntrl	centriolin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305317	Cntrl	centriolin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305317	Cntrl	centriolin	gene	DOID:5041	esophageal cancer		ISO	RGD:1313275	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305317	Cntrl	centriolin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305317	Cntrl	centriolin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305317	Cntrl	centriolin	gene	DOID:6039	uveal melanoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305317	Cntrl	centriolin	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313275	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305317	Cntrl	centriolin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305317	Cntrl	centriolin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305317	Cntrl	centriolin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305317	Cntrl	centriolin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1305317	Cntrl	centriolin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305319	Ttll12	tubulin tyrosine ligase like 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305319	Ttll12	tubulin tyrosine ligase like 12	gene	DOID:1115	sarcoma		ISO	RGD:1604381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305319	Ttll12	tubulin tyrosine ligase like 12	gene	DOID:1909	melanoma		ISO	RGD:1604381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305319	Ttll12	tubulin tyrosine ligase like 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305319	Ttll12	tubulin tyrosine ligase like 12	gene	DOID:3275	thymoma		ISO	RGD:1604381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305319	Ttll12	tubulin tyrosine ligase like 12	gene	DOID:4362	cervical cancer		ISO	RGD:1604381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305319	Ttll12	tubulin tyrosine ligase like 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305319	Ttll12	tubulin tyrosine ligase like 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305319	Ttll12	tubulin tyrosine ligase like 12	gene	DOID:6039	uveal melanoma		ISO	RGD:1604381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305319	Ttll12	tubulin tyrosine ligase like 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305319	Ttll12	tubulin tyrosine ligase like 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305320	Rcl1	RNA terminal phosphate cyclase-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305320	Rcl1	RNA terminal phosphate cyclase-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305320	Rcl1	RNA terminal phosphate cyclase-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305320	Rcl1	RNA terminal phosphate cyclase-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305320	Rcl1	RNA terminal phosphate cyclase-like 1	gene	DOID:2468	psychotic disorder		ISO	RGD:1313278	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	
1305320	Rcl1	RNA terminal phosphate cyclase-like 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313278	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1305320	Rcl1	RNA terminal phosphate cyclase-like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305320	Rcl1	RNA terminal phosphate cyclase-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313278	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305320	Rcl1	RNA terminal phosphate cyclase-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305320	Rcl1	RNA terminal phosphate cyclase-like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305320	Rcl1	RNA terminal phosphate cyclase-like 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1313278	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1305320	Rcl1	RNA terminal phosphate cyclase-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:0061024	nonphotosensitive trichothiodystrophy 9		ISO	RGD:1313280	D	RGD:7240710	20220112	OMIM			
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:0061024	nonphotosensitive trichothiodystrophy 9		ISO	RGD:1313280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Trichothiodystrophy 9, nonphotosensitive	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:0070454	hereditary spastic paraplegia 70		ISO	RGD:1313280	D	RGD:7240710	20230505	OMIM			
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:0070454	hereditary spastic paraplegia 70		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE	PMID:25741868|PMID:28492532|PMID:34585293
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:0110173	Charcot-Marie-Tooth disease axonal type 2U		ISO	RGD:1313280	D	RGD:7240710	20151111	OMIM			
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:0110173	Charcot-Marie-Tooth disease axonal type 2U		ISO	RGD:1313280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23729695|PMID:24103465|PMID:24482476|PMID:25640679|PMID:25741868|PMID:25913036|PMID:28492532|PMID:28708278|PMID:29582526|PMID:29775242|PMID:29875423|PMID:30723866|PMID:31356216|PMID:32376792|PMID:32833345|PMID:34169998|PMID:34298581|PMID:34496286|PMID:34813128|PMID:34983064|PMID:35723632|PMID:36738734|PMID:37976411|PMID:9536098
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1313280	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:23729695|PMID:24103465|PMID:25741868|PMID:25913036|PMID:28492532|PMID:29655802|PMID:31356216|PMID:32376792
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1313280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:23729695|PMID:24103465|PMID:25741868|PMID:28492532|PMID:29655802|PMID:32376792|PMID:36413997
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:1115	sarcoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:12120	pulmonary alveolar proteinosis		ISO	RGD:1313280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonary alveolar proteinosis	
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1313280	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:1324	lung cancer		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	PMID:25741868
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:3087	gingivitis		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:480	movement disease		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:824	periodontitis		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:9002394	INTERSTITIAL LUNG AND LIVER DISEASE		ISO	RGD:1313280	D	RGD:7240710	20181114	OMIM			
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:9002394	INTERSTITIAL LUNG AND LIVER DISEASE		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTERSTITIAL LUNG AND LIVER DISEASE | ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND	PMID:24103465|PMID:25741868|PMID:25913036|PMID:28492532|PMID:29582526|PMID:29775242|PMID:30723866|PMID:32376792
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1305321	Mars1	methionyl-tRNA synthetase 1	gene	DOID:9834	hyperopia		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:0060058	lymphoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1313282	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:10488	imperforate anus		ISO	RGD:1313282	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Imperforate anus	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1313282	D	RGD:11538454|PMID:26549737	20220131	RGD		mRNA:increased expression:stomach (human)	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:2043	hepatitis B		ISO	RGD:1313282	D	RGD:151347673|PMID:21196414	20220131	RGD		associated with hepatocellular carcinoma;mRNA:increased expression:liver, blood serum (human)	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:3275	thymoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313282	D	RGD:151347681|PMID:33510968	20220131	RGD		protein:increased expression:lung (human)	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1313282	D	RGD:151347678|PMID:28306189	20220131	RGD		human cell line in a mouse model	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		mRNA, protein:increased expression:lung (human)	PMID:22824148|REF_RGD_ID:151347677
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1313282	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:37126546
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1313282	D	RGD:151347673|PMID:21196414	20220131	RGD		human cell line in a mouse model	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1313282	D	RGD:151347674|PMID:27010469	20220131	RGD		human recombinant gene and cell line in a mouse model	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1313282	D	RGD:151347839|PMID:31922225	20220202	RGD		human cell line in a mouse model	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1313282	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1313282	D	RGD:151347675|PMID:29138007	20220131	RGD		mRNA:splicing variants:colorectum (human)	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1313282	D	RGD:151347676|PMID:25602366	20220131	RGD		mRNA:increased expression:colorectum (human)	
1305322	Map4k4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1313282	D	RGD:151347679|PMID:27882171	20220131	RGD		mRNA, protein:increased expression:colorectum, lymph node, blood serum (human)	
1305323	Pla2g3	phospholipase A2, group III	gene	DOID:10534	stomach cancer		ISO	RGD:1313284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305323	Pla2g3	phospholipase A2, group III	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305323	Pla2g3	phospholipase A2, group III	gene	DOID:1115	sarcoma		ISO	RGD:1313284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305323	Pla2g3	phospholipase A2, group III	gene	DOID:4990	essential tremor		ISO	RGD:1313284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Essential tremor	
1305323	Pla2g3	phospholipase A2, group III	gene	DOID:5041	esophageal cancer		ISO	RGD:1313284	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305323	Pla2g3	phospholipase A2, group III	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305323	Pla2g3	phospholipase A2, group III	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305323	Pla2g3	phospholipase A2, group III	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305324	Spry4	sprouty RTK signaling antagonist 4	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1313286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
1305324	Spry4	sprouty RTK signaling antagonist 4	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1313286	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1305324	Spry4	sprouty RTK signaling antagonist 4	gene	DOID:0090079	hypogonadotropic hypogonadism 17 with or without anosmia		ISO	RGD:1313286	D	RGD:7240710	20140911	OMIM			
1305324	Spry4	sprouty RTK signaling antagonist 4	gene	DOID:0090079	hypogonadotropic hypogonadism 17 with or without anosmia		ISO	RGD:1313286	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 17 with or without anosmia | ClinVar Annotator: match by term: SPRY4-related condition	PMID:23643382|PMID:25741868|PMID:28492532|PMID:33670044
1305324	Spry4	sprouty RTK signaling antagonist 4	gene	DOID:1324	lung cancer		ISO	RGD:1313286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305324	Spry4	sprouty RTK signaling antagonist 4	gene	DOID:13938	amenorrhea		ISO	RGD:1313286	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:32870266
1305324	Spry4	sprouty RTK signaling antagonist 4	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1313286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
1305324	Spry4	sprouty RTK signaling antagonist 4	gene	DOID:1923	disorder of sexual development		ISO	RGD:1313286	D	RGD:8554872	20210907	ClinVar		ClinVar Annotator: match by term: Disorder of sexual differentiation	
1305324	Spry4	sprouty RTK signaling antagonist 4	gene	DOID:3614	Kallmann syndrome		ISO	RGD:1313286	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Kallmann syndrome	PMID:25741868
1305324	Spry4	sprouty RTK signaling antagonist 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305324	Spry4	sprouty RTK signaling antagonist 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313286	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25822087
1305325	Plxna2	plexin A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305325	Plxna2	plexin A2	gene	DOID:10534	stomach cancer		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305325	Plxna2	plexin A2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305325	Plxna2	plexin A2	gene	DOID:1115	sarcoma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305325	Plxna2	plexin A2	gene	DOID:12849	autistic disorder		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532|PMID:33749153
1305325	Plxna2	plexin A2	gene	DOID:1909	melanoma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1305325	Plxna2	plexin A2	gene	DOID:3070	high grade glioma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305325	Plxna2	plexin A2	gene	DOID:4362	cervical cancer		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305325	Plxna2	plexin A2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305325	Plxna2	plexin A2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313288	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305325	Plxna2	plexin A2	gene	DOID:5419	schizophrenia		ISO	RGD:1313288	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18583979
1305325	Plxna2	plexin A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305325	Plxna2	plexin A2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305325	Plxna2	plexin A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305325	Plxna2	plexin A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305325	Plxna2	plexin A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305325	Plxna2	plexin A2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313288	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305326	Mcub	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:10907	microcephaly		ISO	RGD:1602886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1305326	Mcub	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:3275	thymoma		ISO	RGD:1602886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305326	Mcub	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1602886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305326	Mcub	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1602886	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305326	Mcub	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:9007661	Dwarfism		ISO	RGD:1602886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1305326	Mcub	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1305326	Mcub	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1602886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868
1305326	Mcub	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305327	Nol12	nucleolar protein 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305327	Nol12	nucleolar protein 12	gene	DOID:10534	stomach cancer		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305327	Nol12	nucleolar protein 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305327	Nol12	nucleolar protein 12	gene	DOID:1909	melanoma		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305327	Nol12	nucleolar protein 12	gene	DOID:3275	thymoma		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305327	Nol12	nucleolar protein 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305327	Nol12	nucleolar protein 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305327	Nol12	nucleolar protein 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313295	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1313295	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:16116617|PMID:16199547|PMID:17139268|PMID:17576681|PMID:18347291|PMID:19131948|PMID:19890349|PMID:23083690|PMID:23621129|PMID:24033266|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29687370|PMID:31046801|PMID:31168818|PMID:31642606|PMID:31953843|PMID:33255364|PMID:33435499|PMID:33726816|PMID:34008892|PMID:34379964|PMID:9536098
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1313295	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:16116617|PMID:16199547|PMID:18347291|PMID:19131948|PMID:19890349|PMID:23083690|PMID:23621129|PMID:24033266|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29687370|PMID:31046801|PMID:31168818|PMID:31953843|PMID:33255364|PMID:33435499|PMID:33726816|PMID:34008892|PMID:34379964|PMID:34908195|PMID:35412663|PMID:36003334|PMID:36258281|PMID:38060040|PMID:38791074
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:0060656	autosomal recessive congenital ichthyosis 1		ISO	RGD:1313295	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21739938
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:0060710	autosomal recessive congenital ichthyosis 2		ISO	RGD:1313295	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:0060710	autosomal recessive congenital ichthyosis 2		ISO	RGD:1313295	D	RGD:7240710	20130221	OMIM			
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:0060710	autosomal recessive congenital ichthyosis 2		ISO	RGD:1313295	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALOX12B-related condition | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 | ClinVar Annotator: match by term: autosomal recessive congenital ichthyosis 2	PMID:11773004|PMID:16116617|PMID:16199547|PMID:17139268|PMID:17576681|PMID:18347291|PMID:18414213|PMID:19131948|PMID:19890349|PMID:20222929|PMID:22622417|PMID:23083690|PMID:23621129|PMID:24033266|PMID:25524567|PMID:25741868|PMID:25998749|PMID:26762237|PMID:26863999|PMID:27025581|PMID:28236338|PMID:28492532|PMID:29687370|PMID:31046801|PMID:31168818|PMID:31642606|PMID:31953843|PMID:32253496|PMID:33255364|PMID:33435499|PMID:33726816|PMID:34008892|PMID:34273205|PMID:34379964|PMID:34547244|PMID:34908195|PMID:35052464|PMID:35186387|PMID:35412663|PMID:36003334|PMID:36703223|PMID:38588653|PMID:38791074|PMID:39501396|PMID:9536098
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:10534	stomach cancer		ISO	RGD:1313295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:1570	ectropion		ISO	RGD:1313295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectropion	PMID:25741868|PMID:31046801
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:1697	ichthyosis		ISO	RGD:1313295	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:16116617|PMID:19131948|PMID:19890349|PMID:24033266|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:31168818|PMID:33255364|PMID:33435499|PMID:34008892|PMID:34273205|PMID:34908195|PMID:36964972|PMID:38791074
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:1793	pancreatic cancer		ISO	RGD:1313295	D	RGD:11554173	20240206	CTD		CTD Direct Evidence: marker/mechanism	PMID:30258081
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:299	adenocarcinoma		ISO	RGD:1313295	D	RGD:11554173	20191112	CTD		CTD Direct Evidence: marker/mechanism	PMID:30258081
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:1313295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratodermas	PMID:25741868|PMID:25998749
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313295	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:30258081
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1313295	D	RGD:11554173	20191112	CTD		CTD Direct Evidence: marker/mechanism	PMID:30258081
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:630	genetic disease		ISO	RGD:1313295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:31168818|PMID:33435499
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313295	D	RGD:11554173	20191112	CTD		CTD Direct Evidence: marker/mechanism	PMID:30258081
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1313295	D	RGD:11554173	20191112	CTD		CTD Direct Evidence: marker/mechanism	PMID:30258081
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1313295	D	RGD:11554173	20191112	CTD		CTD Direct Evidence: marker/mechanism	PMID:30258081
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1313295	D	RGD:11554173	20191112	CTD		CTD Direct Evidence: marker/mechanism	PMID:30258081
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:9006202	Pruritus		ISO	RGD:1313295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pruritus	PMID:25741868|PMID:31046801
1305330	Alox12b	arachidonate 12-lipoxygenase, 12R type	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305331	Tpst2	tyrosylprotein sulfotransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305331	Tpst2	tyrosylprotein sulfotransferase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313297	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1305331	Tpst2	tyrosylprotein sulfotransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1313297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305331	Tpst2	tyrosylprotein sulfotransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305331	Tpst2	tyrosylprotein sulfotransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305331	Tpst2	tyrosylprotein sulfotransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:0050625	biliary tract benign neoplasm		ISO	RGD:1313299	D	RGD:2317415|PMID:16505435	20100405	RGD		protein:increased expression:biliary epithelium (human)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:0050908	myelodysplastic syndrome	no_association	ISO	RGD:1313299	D	RGD:11073731|PMID:22668018	20160504	RGD		DNA:SNP:cds:309T>G(rs2279744)(human)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1313299	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14555611
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:10534	stomach cancer		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:10923	sickle cell anemia		ISO	RGD:1313300	D	RGD:10412315|PMID:21085184	20151116	RGD			
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:11054	urinary bladder cancer	severity	ISO	RGD:1313299	D	RGD:13602098|PMID:27798881	20180531	RGD		mRNA:increased expression:bladder	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:1115	sarcoma		ISO	RGD:1313299	D	RGD:2317412|PMID:1614537	20100405	RGD		DNA:amplification:cds (human)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:1115	sarcoma		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:12336	male infertility		ISO	RGD:1313299	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22773013
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:1324	lung cancer		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:13677	SAPHO syndrome		ISO	RGD:1313299	D	RGD:11554173	20190312	CTD		CTD Direct Evidence: marker/mechanism	PMID:19779722
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1313299	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to	PMID:15550242|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:28492532|PMID:9536098
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1313299	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to | ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms	PMID:15550242|PMID:16199547|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:23653682|PMID:28492532|PMID:9536098
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1313299	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to	PMID:16199547|PMID:17576681|PMID:23653682|PMID:25741868|PMID:28492532|PMID:9536098
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:1612	breast cancer		IEP		D	RGD:2293626|PMID:15844214	20100402	RGD		protein:increased expression:breast tumor (rat)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:1697	ichthyosis		ISO	RGD:1313299	D	RGD:10412066|PMID:24005053	20151113	RGD			
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:1697	ichthyosis	treatment	IMP		D	RGD:10412066|PMID:24005053	20151113	RGD			
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:1909	melanoma		ISO	RGD:1313299	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17210701
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:2055	post-traumatic stress disorder		IDA		D	RGD:10412309|PMID:23174211	20151116	RGD			
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:224	transient cerebral ischemia	treatment	IDA		D	RGD:10412310|PMID:24334056	20151116	RGD			
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:3068	glioblastoma		ISO	RGD:1313299	D	RGD:13702089|PMID:23796897	20180717	RGD		DNA:amplication	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:3587	pancreatic ductal carcinoma	onset	ISO	RGD:1313299	D	RGD:2317414|PMID:19752772	20100405	RGD		DNA:snp:promoter, intron:IVS1+309T>G (human)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:3587	pancreatic ductal carcinoma	severity	ISO	RGD:1313299	D	RGD:2317416|PMID:15810085	20100405	RGD		protein:increased expression:pancreas (human)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:3669	intermittent claudication	treatment	IEP		D	RGD:9586024|PMID:23658678	20151116	RGD			
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1313299	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19941079|PMID:21268124
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:409	liver disease	onset	IEP		D	RGD:2317409|PMID:14555611	20100402	RGD		protein:increased expression:Enzyme altered focus (rat)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1313299	D	RGD:2317417|PMID:15619210	20100405	RGD		protein:increased expression:intrahepatic bile duct (human)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1313299	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12878215
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1313299	D	RGD:2317357|PMID:20019189	20100330	RGD		DNA:transversion:promoter:g.-309T>G (human)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:8552	chronic myeloid leukemia	onset	ISO	RGD:1313299	D	RGD:13703044|PMID:23818300	20180730	RGD		DNA:SNP:promoter:rs2279744(human)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:10412063|PMID:23595775	20151113	RGD		protein:increased expression:spinal cord	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1313299	D	RGD:11554173	20200702	CTD		CTD Direct Evidence: marker/mechanism	PMID:31945315
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9000998	Brain Injuries		IEP		D	RGD:2317397|PMID:15165363	20100402	RGD		protein:increased expression:brain cortex (rat)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9002231	Fetal Growth Retardation		IEP		D	RGD:2317395|PMID:15563574	20100402	RGD		mRNA:decreased expression:cerebrum (rat)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313299	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20875869
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9002395	Hypothermia		IEP		D	RGD:2317393|PMID:15777295	20100402	RGD		associated with Reperfusion Injury; protein:increased expression:hippocampus (rat)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9002644	Premature Aging		ISO	RGD:1313300	D	RGD:10412052|PMID:23766372	20151112	RGD			
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9003020	Chemotherapy-Induced Febrile Neutropenia	susceptibility	ISO	RGD:1313299	D	RGD:11073725|PMID:21706156	20160504	RGD		associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9003292	Intracranial Subdural Hematoma	treatment	IMP		D	RGD:155882538|PMID:34334113	20230126	RGD			
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9004277	Lessel-Kubisch Syndrome		ISO	RGD:1313299	D	RGD:7240710	20260729	OMIM			
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9004277	Lessel-Kubisch Syndrome		ISO	RGD:1313299	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lessel-kubisch syndrome | ClinVar Annotator: match by term: MDM2-related condition	PMID:25741868|PMID:28492532
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9004486	Drug-induced Neutropenia	susceptibility	ISO	RGD:1313299	D	RGD:11073715|PMID:24732641	20160504	RGD		associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9005396	Intimal Hyperplasia	treatment	ISO	RGD:1313300	D	RGD:10412065|PMID:21498419	20151113	RGD			
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:10412313|PMID:23530877	20151116	RGD		protein:increased degradation:myocardium	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9007558	Acute Experimental Pancreatitis		IEP		D	RGD:2317361|PMID:19850968	20100330	RGD		protein:increased expression:pancreas (rat)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1313299	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15550242
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1313299	D	RGD:7240710	20260729	OMIM			
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9007838	Myocardial Reperfusion Injury		IEP		D	RGD:2317401|PMID:14644432	20100402	RGD		protein:increased serine phosphorylation:heart ventricle (rat)	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313299	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26229107
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1313299	D	RGD:11251749|PMID:11064355	20160621	RGD			
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9256	colorectal cancer		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305332	Mdm2	MDM2 proto-oncogene	gene	DOID:9286	priapism		IEP		D	RGD:10412315|PMID:21085184	20151116	RGD		protein:increased expression:corpus cavernosum	
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:0090040	torsion dystonia 7		ISO	RGD:1313304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22447717
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:0090051	dystonia 23		ISO	RGD:1313304	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Dystonia 23	PMID:25741868
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1313304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17508423
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:543	dystonia		ISO	RGD:1313304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222958
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:543	dystonia		ISO	RGD:1313304	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: Paroxysmal dystonia	PMID:16199547|PMID:17576681|PMID:22447717|PMID:25741868|PMID:25778706|PMID:28492532|PMID:35041927|PMID:9536098
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305336	Ciz1	CDKN1A interacting zinc finger protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305337	Triml1	tripartite motif family-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305337	Triml1	tripartite motif family-like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1605231	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305337	Triml1	tripartite motif family-like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1605231	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305337	Triml1	tripartite motif family-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1605231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305337	Triml1	tripartite motif family-like 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305337	Triml1	tripartite motif family-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305338	Hic2	HIC ZBTB transcriptional repressor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305338	Hic2	HIC ZBTB transcriptional repressor 2	gene	DOID:11372	megacolon		ISO	RGD:1313307	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
1305338	Hic2	HIC ZBTB transcriptional repressor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305338	Hic2	HIC ZBTB transcriptional repressor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305338	Hic2	HIC ZBTB transcriptional repressor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305339	Dap3	death associated protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305339	Dap3	death associated protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305339	Dap3	death associated protein 3	gene	DOID:0061073	Perrault syndrome 7		ISO	RGD:1313309	D	RGD:7240710	20250219	OMIM			
1305339	Dap3	death associated protein 3	gene	DOID:0061073	Perrault syndrome 7		ISO	RGD:1313309	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PERRAULT SYNDROME 7	PMID:25741868|PMID:39371131|PMID:39701103
1305339	Dap3	death associated protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305339	Dap3	death associated protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305339	Dap3	death associated protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305339	Dap3	death associated protein 3	gene	DOID:3275	thymoma		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305339	Dap3	death associated protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305339	Dap3	death associated protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305339	Dap3	death associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305339	Dap3	death associated protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305339	Dap3	death associated protein 3	gene	DOID:9003326	Perrault Syndrome 1		ISO	RGD:1313309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Perrault syndrome 1	
1305339	Dap3	death associated protein 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313309	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
1305340	Cep55	centrosomal protein 55	gene	DOID:0050778	Meckel syndrome		ISS	RGD:1623932	D	RGD:13592920	20240314	MouseDO			
1305340	Cep55	centrosomal protein 55	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305340	Cep55	centrosomal protein 55	gene	DOID:0080327	multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly		ISO	RGD:1313311	D	RGD:7240710	20190315	OMIM			
1305340	Cep55	centrosomal protein 55	gene	DOID:0080327	multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly		ISO	RGD:1313311	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: CEP55-related condition | ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia | ClinVar Annotator: match by term: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	PMID:25741868|PMID:28264986|PMID:28295209|PMID:28492532|PMID:30622327|PMID:32100459
1305340	Cep55	centrosomal protein 55	gene	DOID:0080600	COVID-19		ISO	RGD:1313311	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305340	Cep55	centrosomal protein 55	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305340	Cep55	centrosomal protein 55	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1313311	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1305340	Cep55	centrosomal protein 55	gene	DOID:1824	status epilepticus		ISO	RGD:1313311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868
1305340	Cep55	centrosomal protein 55	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305340	Cep55	centrosomal protein 55	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305340	Cep55	centrosomal protein 55	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305340	Cep55	centrosomal protein 55	gene	DOID:630	genetic disease		ISO	RGD:1313311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16198290|PMID:25741868|PMID:28492532
1305340	Cep55	centrosomal protein 55	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313311	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1305340	Cep55	centrosomal protein 55	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305340	Cep55	centrosomal protein 55	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:0050700	cardiomyopathy		ISS	RGD:1552183	D	RGD:13592920	20230330	MouseDO			
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:0110243	cataract 46 juvenile-onset		ISO	RGD:1313312	D	RGD:7240710	20190315	OMIM			
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:0110243	cataract 46 juvenile-onset		ISO	RGD:1313312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cataract 46 juvenile-onset	PMID:26788539
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:10907	microcephaly		ISO	RGD:1313312	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:3275	thymoma		ISO	RGD:1313312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:9000495	Tremor		ISO	RGD:1313312	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:25741868
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1313312	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1313312	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:9007917	Supernumerary Tooth		ISO	RGD:1313312	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Teeth, supernumerary	PMID:25741868
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:9009262	Marbach-Rustad progeroid syndrome		ISO	RGD:1313312	D	RGD:7240710	20241120	OMIM			
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:9009262	Marbach-Rustad progeroid syndrome		ISO	RGD:1313312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEMD2-related condition | ClinVar Annotator: match by term: Marbach-Rustad progeroid syndrome	PMID:25741868|PMID:28492532
1305341	Lemd2	LEM domain nuclear envelope protein 2	gene	DOID:930	orbital disease		ISO	RGD:1313312	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:1115	sarcoma		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:11840	coronary artery vasospasm		ISO	RGD:1313314	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19911011
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:1909	melanoma		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:3275	thymoma		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:4362	cervical cancer		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313314	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313314	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305342	Arhgap9	Rho GTPase activating protein 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305343	Emilin2	elastin microfibril interfacer 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305343	Emilin2	elastin microfibril interfacer 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305343	Emilin2	elastin microfibril interfacer 2	gene	DOID:1115	sarcoma		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305343	Emilin2	elastin microfibril interfacer 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305343	Emilin2	elastin microfibril interfacer 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305343	Emilin2	elastin microfibril interfacer 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313316	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305343	Emilin2	elastin microfibril interfacer 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305343	Emilin2	elastin microfibril interfacer 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305343	Emilin2	elastin microfibril interfacer 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305343	Emilin2	elastin microfibril interfacer 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305343	Emilin2	elastin microfibril interfacer 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305344	Iglon5	IgLON family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305345	Pars2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305345	Pars2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:0112211	developmental and epileptic encephalopathy 75		ISO	RGD:1603670	D	RGD:7240710	20190612	OMIM			
1305345	Pars2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:0112211	developmental and epileptic encephalopathy 75		ISO	RGD:1603670	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 75 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 | ClinVar Annotator: match by term: PARS2-related condition	PMID:25629079|PMID:25705216|PMID:25741868|PMID:27290639|PMID:27348859|PMID:28077841|PMID:28492532|PMID:29410512|PMID:29915213|PMID:30237576|PMID:31130284|PMID:31487502|PMID:32071833|PMID:32514400|PMID:32533790|PMID:33339579|PMID:34484863|PMID:37956963|PMID:38087948|PMID:38469956|PMID:38703036
1305345	Pars2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1603670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305345	Pars2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:2661	myoepithelioma		ISO	RGD:1603670	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1305345	Pars2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1603670	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10447505|PMID:25741868|PMID:27290639|PMID:27348859|PMID:28492532|PMID:29410512|PMID:29915213|PMID:30237576|PMID:31487502|PMID:32071833|PMID:32514400|PMID:33339579|PMID:34484863|PMID:35012964|PMID:37956963|PMID:38087948|PMID:38469956
1305345	Pars2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1313320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1313320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:1909	melanoma		ISO	RGD:1313320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1313320	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:303	substance-related disorder		ISO	RGD:1313320	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313320	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305346	Farp1	FERM, ARH/RhoGEF and pleckstrin domain protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305347	C5h1orf210	similar to human chromosome 1 open reading frame 210	gene	DOID:2394	ovarian cancer		ISO	RGD:1603568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305347	C5h1orf210	similar to human chromosome 1 open reading frame 210	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603568	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305347	C5h1orf210	similar to human chromosome 1 open reading frame 210	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305347	C5h1orf210	similar to human chromosome 1 open reading frame 210	gene	DOID:9001573	Experimental Liver Cirrhosis		EXP		D	RGD:11554173	20180130	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305348	Cep152	centrosomal protein 152	gene	DOID:0050569	Seckel syndrome		ISO	RGD:1604825	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Seckel syndrome	PMID:21131973|PMID:24033266|PMID:25741868|PMID:28492532
1305348	Cep152	centrosomal protein 152	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305348	Cep152	centrosomal protein 152	gene	DOID:0070007	Seckel syndrome 1		ISO	RGD:1604825	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21131973
1305348	Cep152	centrosomal protein 152	gene	DOID:0070012	Seckel syndrome 5		ISO	RGD:1604825	D	RGD:7240710	20140911	OMIM			
1305348	Cep152	centrosomal protein 152	gene	DOID:0070012	Seckel syndrome 5		ISO	RGD:1604825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEP152-Related Disorders | ClinVar Annotator: match by term: CEP152-related disorder | ClinVar Annotator: match by term: SECKEL SYNDROME 5 | ClinVar Annotator: match by term: Seckel syndrome 5	PMID:16199547|PMID:18414213|PMID:20598275|PMID:21131973|PMID:25741868|PMID:28492532
1305348	Cep152	centrosomal protein 152	gene	DOID:0070292	primary autosomal recessive microcephaly 9		ISO	RGD:1604825	D	RGD:7240710	20140911	OMIM			
1305348	Cep152	centrosomal protein 152	gene	DOID:0070292	primary autosomal recessive microcephaly 9		ISO	RGD:1604825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEP152-related condition | ClinVar Annotator: match by term: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 9	PMID:16199547|PMID:18414213|PMID:20598275|PMID:21131973|PMID:25741868|PMID:25996639|PMID:28454995|PMID:28492532|PMID:34402213
1305348	Cep152	centrosomal protein 152	gene	DOID:10534	stomach cancer		ISO	RGD:1604825	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:18414213|PMID:28492532
1305348	Cep152	centrosomal protein 152	gene	DOID:1115	sarcoma		ISO	RGD:1604825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305348	Cep152	centrosomal protein 152	gene	DOID:12849	autistic disorder		ISO	RGD:1604825	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:18414213|PMID:28492532
1305348	Cep152	centrosomal protein 152	gene	DOID:1826	epilepsy		ISO	RGD:1604825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:21131973|PMID:25741868|PMID:28492532
1305348	Cep152	centrosomal protein 152	gene	DOID:3275	thymoma		ISO	RGD:1604825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305348	Cep152	centrosomal protein 152	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305348	Cep152	centrosomal protein 152	gene	DOID:4362	cervical cancer		ISO	RGD:1604825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305348	Cep152	centrosomal protein 152	gene	DOID:630	genetic disease		ISO	RGD:1604825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:21131973|PMID:25741868|PMID:28492532
1305348	Cep152	centrosomal protein 152	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1604825	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:18414213|PMID:28492532
1305348	Cep152	centrosomal protein 152	gene	DOID:9000727	Syncope		ISO	RGD:1604825	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:18414213|PMID:28492532
1305348	Cep152	centrosomal protein 152	gene	DOID:9001733	Tinnitus		ISO	RGD:1604825	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:18414213|PMID:28492532
1305348	Cep152	centrosomal protein 152	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1604825	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:18414213|PMID:28492532
1305348	Cep152	centrosomal protein 152	gene	DOID:9003539	Hyperacusis		ISO	RGD:1604825	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:18414213|PMID:28492532
1305348	Cep152	centrosomal protein 152	gene	DOID:9005077	Joint Instability		ISO	RGD:1604825	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:18414213|PMID:28492532
1305348	Cep152	centrosomal protein 152	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305348	Cep152	centrosomal protein 152	gene	DOID:9007736	Vertigo		ISO	RGD:1604825	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:18414213|PMID:28492532
1305348	Cep152	centrosomal protein 152	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305349	Pcdhb21	protocadherin beta 21	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345982	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1305350	2510039O18Rikl	RIKEN cDNA 2510039O18 gene like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305350	2510039O18Rikl	RIKEN cDNA 2510039O18 gene like	gene	DOID:1115	sarcoma		ISO	RGD:1602668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305350	2510039O18Rikl	RIKEN cDNA 2510039O18 gene like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305351	Drc12	dynein regulatory complex subunit 12 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305351	Drc12	dynein regulatory complex subunit 12 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305351	Drc12	dynein regulatory complex subunit 12 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305352	Lyar	Ly1 antibody reactive	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305352	Lyar	Ly1 antibody reactive	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305352	Lyar	Ly1 antibody reactive	gene	DOID:10534	stomach cancer		ISO	RGD:1604346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305352	Lyar	Ly1 antibody reactive	gene	DOID:4362	cervical cancer		ISO	RGD:1604346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305352	Lyar	Ly1 antibody reactive	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305352	Lyar	Ly1 antibody reactive	gene	DOID:6039	uveal melanoma		ISO	RGD:1604346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305352	Lyar	Ly1 antibody reactive	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305352	Lyar	Ly1 antibody reactive	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305352	Lyar	Ly1 antibody reactive	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305352	Lyar	Ly1 antibody reactive	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305352	Lyar	Ly1 antibody reactive	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305353	Matn2	matrilin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305353	Matn2	matrilin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305353	Matn2	matrilin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305353	Matn2	matrilin 2	gene	DOID:1324	lung cancer		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305353	Matn2	matrilin 2	gene	DOID:1909	melanoma		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305353	Matn2	matrilin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313328	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305353	Matn2	matrilin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305353	Matn2	matrilin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305353	Matn2	matrilin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305353	Matn2	matrilin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305353	Matn2	matrilin 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305353	Matn2	matrilin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305353	Matn2	matrilin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305354	Lsm7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:0050835	generalized dystonia		ISO	RGD:1313330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	
1305354	Lsm7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305354	Lsm7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:10579	leukodystrophy		ISO	RGD:1313330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	
1305354	Lsm7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1313330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	
1305354	Lsm7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:5041	esophageal cancer		ISO	RGD:1313330	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305354	Lsm7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305354	Lsm7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:9009141	Joubert Syndrome 36		ISO	RGD:1313330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 36	PMID:25741868
1305354	Lsm7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:9009357	Leukodystrophy and cerebellar atrophy		ISO	RGD:1313330	D	RGD:7240710	20250730	OMIM			
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0050439	Usher syndrome		ISO	RGD:1313332	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Usher syndrome	PMID:25741868
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1313332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:12631110|PMID:14871398|PMID:17216251|PMID:17396119|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26934356|PMID:27884173|PMID:28492532|PMID:30467950|PMID:31308072|PMID:33040356|PMID:35675912
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney, Polycystic | ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:25741868|PMID:28492532|PMID:31922066
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1313332	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome	PMID:25741868|PMID:28492532
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0110032	Alport syndrome 3A		ISO	RGD:1313332	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT	PMID:11375996|PMID:11961012|PMID:12028435|PMID:12631110|PMID:12748344|PMID:15618242|PMID:15954103|PMID:16199547|PMID:16467446|PMID:17216251|PMID:17576681|PMID:17942953|PMID:19129241|PMID:20301386|PMID:21196518|PMID:21897443|PMID:24033266|PMID:24046192|PMID:24052634|PMID:24633401|PMID:24854265|PMID:25307543|PMID:25525159|PMID:25596306|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27859054|PMID:28492532|PMID:28632965|PMID:28658201|PMID:28704582|PMID:28844315|PMID:29801666|PMID:29854973|PMID:29924831|PMID:30586318|PMID:30745910|PMID:31308072|PMID:31312213|PMID:31328266|PMID:31576025|PMID:31589614|PMID:31934206|PMID:32939031|PMID:33233744|PMID:33369211|PMID:33532864|PMID:33712733|PMID:33772369|PMID:33838161|PMID:33854215|PMID:34400539|PMID:34746741|PMID:35368817|PMID:35759000|PMID:36100708|PMID:36130833|PMID:36239278|PMID:37078890|PMID:37097554|PMID:38317457|PMID:38978054|PMID:9536098|PMID:9792860
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0110032	Alport syndrome 3A		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT	PMID:11375996|PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:20301386|PMID:21196518|PMID:21897443|PMID:24033266|PMID:24046192|PMID:24854265|PMID:25307543|PMID:25596306|PMID:25741868|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28632965|PMID:28658201|PMID:28704582|PMID:31312213|PMID:33369211|PMID:36100708|PMID:36130833|PMID:37078890|PMID:38978054
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0110033	Alport syndrome 2		ISO	RGD:1313332	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0110033	Alport syndrome 2		ISO	RGD:1313332	D	RGD:7240710	20130221	OMIM			
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0110033	Alport syndrome 2		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome | ClinVar Annotator: match by term: COL4A4-related disorder	PMID:11375996|PMID:11961012|PMID:12028435|PMID:12325029|PMID:12631110|PMID:14582039|PMID:14871398|PMID:15086897|PMID:16199547|PMID:16338941|PMID:16467446|PMID:17216251|PMID:17396119|PMID:17576681|PMID:17942953|PMID:19129241|PMID:19675380|PMID:20029656|PMID:20301386|PMID:21196518|PMID:21897443|PMID:22887978|PMID:23349334|PMID:23551117|PMID:24033266|PMID:24033287|PMID:24046192|PMID:24052634|PMID:24398087|PMID:24522496|PMID:24633401|PMID:24854265|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25755845|PMID:26467025|PMID:26809805|PMID:26833262|PMID:26934356|PMID:27281700|PMID:27859054|PMID:27884173|PMID:28117080|PMID:28492532|PMID:28632965|PMID:28658201|PMID:28704582|PMID:28968992|PMID:28976722|PMID:29204651|PMID:29496980|PMID:29551517|PMID:29801666|PMID:29854973|PMID:29873249|PMID:29924831|PMID:30076350|PMID:30450445|PMID:30467950|PMID:30586318|PMID:30647093|PMID:30883042|PMID:31019026|PMID:31246743|PMID:31308072|PMID:31312213|PMID:31328266|PMID:31408864|PMID:31515789|PMID:31589614|PMID:31677115|PMID:32647767|PMID:33040356|PMID:33048202|PMID:33233744|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33838161|PMID:33854215|PMID:34120753|PMID:34448697|PMID:34584596|PMID:34746741|PMID:34993602|PMID:35090027|PMID:35114279|PMID:35419377|PMID:35675912|PMID:35759000|PMID:36090501|PMID:36100708|PMID:36117978|PMID:36130833|PMID:36161695|PMID:36292665|PMID:36349757|PMID:36349777|PMID:36370330|PMID:36938085|PMID:37078890|PMID:37097554|PMID:37147621|PMID:37248651|PMID:37895203|PMID:38317457|PMID:38790222|PMID:38972501|PMID:38978054|PMID:39443691|PMID:39558648|PMID:7987396|PMID:9536098|PMID:9792860
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0110033	Alport syndrome 2		ISS	RGD:1313333	D	RGD:13592920	20230718	MouseDO		OMIM:203780	
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0110034	X-linked Alport syndrome		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked Alport syndrome	PMID:12028435|PMID:17396119|PMID:19129241|PMID:19675380|PMID:20029656|PMID:24033266|PMID:25514610|PMID:25741868|PMID:25755845|PMID:26467025|PMID:28492532
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:17396119|PMID:20029656|PMID:24033266|PMID:25514610|PMID:25741868|PMID:26467025|PMID:28492532
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0111132	focal segmental glomerulosclerosis 7		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7	PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26809805|PMID:28492532
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0111365	benign familial hematuria		ISO	RGD:1313332	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: marker/mechanism	
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0111365	benign familial hematuria		ISO	RGD:1313332	D	RGD:7242047|PMID:19357112	20130322	RGD			
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0111365	benign familial hematuria		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria | ClinVar Annotator: match by term: THIN MEMBRANE NEPHROPATHY	PMID:11375996|PMID:12028435|PMID:15086897|PMID:16199547|PMID:16467446|PMID:17216251|PMID:17396119|PMID:17576681|PMID:17942953|PMID:19129241|PMID:20301386|PMID:21196518|PMID:21897443|PMID:22887978|PMID:23349334|PMID:23551117|PMID:24033266|PMID:24033287|PMID:24046192|PMID:24052634|PMID:24398087|PMID:24854265|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25596306|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27859054|PMID:28476686|PMID:28492532|PMID:28632965|PMID:28704582|PMID:28968992|PMID:28976722|PMID:29496980|PMID:29801666|PMID:30076350|PMID:30295827|PMID:30586318|PMID:30647093|PMID:30968591|PMID:31019026|PMID:31246743|PMID:31312213|PMID:31328266|PMID:31408864|PMID:31589614|PMID:32332277|PMID:32647767|PMID:32703181|PMID:33048202|PMID:33233744|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33838161|PMID:33854215|PMID:34448697|PMID:34584596|PMID:34993602|PMID:35090027|PMID:35114279|PMID:35759000|PMID:36100708|PMID:36117978|PMID:36130833|PMID:36161695|PMID:36292665|PMID:36349757|PMID:36349777|PMID:36370330|PMID:36938085|PMID:37078890|PMID:37097554|PMID:37147621|PMID:37248651|PMID:37895203|PMID:38317457|PMID:38790222|PMID:38972501|PMID:38978054|PMID:39443691|PMID:9536098|PMID:9792860
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:0112314	autosomal dominant brain small vessel disease 2A		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brain small vessel disease 2A, autosomal dominant	PMID:25741868|PMID:28492532
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:19675380|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:1074	kidney failure		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:10983	Alport syndrome		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Alport Syndrome | ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria	PMID:11685592|PMID:11961012|PMID:12028435|PMID:12325029|PMID:12631110|PMID:12748344|PMID:14582039|PMID:14871398|PMID:15086897|PMID:15365990|PMID:15618242|PMID:15954103|PMID:16199547|PMID:16338941|PMID:16467446|PMID:1721625|PMID:17216251|PMID:17396119|PMID:17576681|PMID:17942953|PMID:19129241|PMID:19675380|PMID:20029656|PMID:20301386|PMID:21196518|PMID:21897443|PMID:22887978|PMID:23349334|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24046192|PMID:24052634|PMID:24509478|PMID:24522496|PMID:24633401|PMID:24854265|PMID:25229338|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25525159|PMID:25596306|PMID:25741868|PMID:25755845|PMID:26346198|PMID:26467025|PMID:26610912|PMID:26628290|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27469977|PMID:27859054|PMID:27884173|PMID:28098982|PMID:28492532|PMID:28509291|PMID:28542346|PMID:28632965|PMID:28658201|PMID:28704582|PMID:28844315|PMID:28968992|PMID:28976722|PMID:29098738|PMID:29204651|PMID:29496980|PMID:29551517|PMID:29801666|PMID:29854973|PMID:29924831|PMID:30076350|PMID:30406062|PMID:30450445|PMID:30467950|PMID:30506145|PMID:30586318|PMID:30647093|PMID:30745910|PMID:30968591|PMID:31019026|PMID:31246743|PMID:31306228|PMID:31308072|PMID:31319225|PMID:31328266|PMID:31387071|PMID:31408864|PMID:31589614|PMID:31738409|PMID:31831576|PMID:31934206|PMID:32203225|PMID:32604935|PMID:32647767|PMID:32939031|PMID:33040356|PMID:33048202|PMID:33095447|PMID:33159707|PMID:33233744|PMID:33369211|PMID:33532864|PMID:33654185|PMID:33712733|PMID:33772369|PMID:33774617|PMID:33838161|PMID:3385421|PMID:33854215|PMID:34400539|PMID:34448697|PMID:34483311|PMID:34508137|PMID:34584596|PMID:34625929|PMID:34746741|PMID:34762194|PMID:34993602|PMID:35064937|PMID:35090027|PMID:35114279|PMID:35121647|PMID:35325889|PMID:35368817|PMID:3536955|PMID:35369551|PMID:35372954|PMID:35386907|PMID:35419377|PMID:35478268|PMID:35582193|PMID:35675912|PMID:35683636|PMID:35759000|PMID:35760791|PMID:36013122|PMID:36090501|PMID:36100708|PMID:36117978|PMID:36130833|PMID:36161695|PMID:36239278|PMID:36253919|PMID:36292665|PMID:36349757|PMID:36349777|PMID:36370330|PMID:36514391|PMID:36646731|PMID:36685964|PMID:36699462|PMID:36758113|PMID:36925663|PMID:36938085|PMID:37078890|PMID:37097554|PMID:37147621|PMID:37217505|PMID:3724865|PMID:37248651|PMID:37323669|PMID:37353797|PMID:37464296|PMID:37895203|PMID:37915894|PMID:38178635|PMID:38179179|PMID:38214412|PMID:38262496|PMID:38317457|PMID:38338714|PMID:38433557|PMID:38790222|PMID:38837003|PMID:38972501|PMID:38978054|PMID:39135934|PMID:39190490|PMID:39430195|PMID:39443691|PMID:39540369|PMID:39558648|PMID:39584075|PMID:39597783|PMID:39810285|PMID:40004525|PMID:40044766|PMID:40115459|PMID:40806767|PMID:5369551|PMID:7987396|PMID:8787673|PMID:9536098|PMID:9792860
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:1115	sarcoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:11202	primary hyperparathyroidism		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary hyperparathyroidism	PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:21897443|PMID:24046192|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28704582|PMID:29801666|PMID:30586318|PMID:33838161|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36100708|PMID:36292665|PMID:37248651|PMID:38790222
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:11383	cryptorchidism		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:11830	myopia		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:12028435|PMID:16467446|PMID:17396119|PMID:17942953|PMID:24033287|PMID:24046192|PMID:24854265|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:29801666|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596|PMID:35090027|PMID:36349757|PMID:38317457|PMID:39443691
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:21897443|PMID:24046192|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28704582|PMID:29801666|PMID:30586318|PMID:33838161|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36100708|PMID:36292665|PMID:37248651|PMID:38790222
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:13098	central retinal artery occlusion		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Central retinal artery occlusion	PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:21897443|PMID:24046192|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28704582|PMID:29801666|PMID:30586318|PMID:33838161|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36100708|PMID:36292665|PMID:37248651|PMID:38790222
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FSGS | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:12028435|PMID:16467446|PMID:17396119|PMID:17942953|PMID:20029656|PMID:20301386|PMID:24033266|PMID:24046192|PMID:25514610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28704582|PMID:30586318|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36161695
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:2921	glomerulonephritis		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulonephritis	PMID:25741868|PMID:28492532
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:3021	acute kidney failure		ISO	RGD:1313332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	PMID:25741868
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:3275	thymoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:19675380|PMID:25741868|PMID:28492532
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:4007	bladder carcinoma		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Urinary bladder carcinoma	PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:21897443|PMID:24046192|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28704582|PMID:29801666|PMID:30586318|PMID:33838161|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36100708|PMID:36292665|PMID:37248651|PMID:38790222
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:19675380|PMID:25741868|PMID:28492532
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1313332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:557	kidney disease		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:12028435|PMID:16467446|PMID:1721625|PMID:17216251|PMID:17942953|PMID:22887978|PMID:24033266|PMID:24046192|PMID:25381091|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28704582|PMID:28976722|PMID:29924831|PMID:31019026|PMID:31246743|PMID:31589614|PMID:33772369|PMID:35114279|PMID:36130833|PMID:36349777|PMID:36370330|PMID:37097554|PMID:37147621|PMID:9792860
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:576	proteinuria		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:11375996|PMID:12028435|PMID:16467446|PMID:17396119|PMID:17576681|PMID:17942953|PMID:23551117|PMID:24033287|PMID:24046192|PMID:24398087|PMID:24854265|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:29801666|PMID:30647093|PMID:31408864|PMID:32647767|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596|PMID:35090027|PMID:35759000|PMID:36100708|PMID:36349757|PMID:38317457|PMID:39443691|PMID:9536098
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:630	genetic disease		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11970952|PMID:12028435|PMID:12325029|PMID:12631110|PMID:15299013|PMID:16467446|PMID:17942953|PMID:2011424|PMID:20301386|PMID:21196518|PMID:22887978|PMID:24033266|PMID:24046192|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25381091|PMID:25741868|PMID:26346198|PMID:28476686|PMID:28492532|PMID:28518168|PMID:28658201|PMID:28704582|PMID:28976722|PMID:29801666|PMID:30443360|PMID:31019026|PMID:31246743|PMID:31589614|PMID:32461654|PMID:33772369|PMID:34400539|PMID:34508137|PMID:35114279|PMID:35177655|PMID:36130833|PMID:36349777|PMID:36370330|PMID:37097554|PMID:37147621|PMID:9724608|PMID:9792860
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:630	genetic disease		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11970952|PMID:12028435|PMID:15299013|PMID:16467446|PMID:17216251|PMID:17942953|PMID:2011424|PMID:20301386|PMID:21897443|PMID:22887978|PMID:24033266|PMID:24046192|PMID:25381091|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28476686|PMID:28492532|PMID:28518168|PMID:28658201|PMID:28704582|PMID:28976722|PMID:29801666|PMID:30443360|PMID:30586318|PMID:31019026|PMID:31246743|PMID:31589614|PMID:32461654|PMID:33772369|PMID:33838161|PMID:33854215|PMID:34400539|PMID:34508137|PMID:34993602|PMID:35114279|PMID:35177655|PMID:35759000|PMID:36100708|PMID:36130833|PMID:36292665|PMID:36349777|PMID:36370330|PMID:37097554|PMID:37147621|PMID:37248651|PMID:38790222|PMID:9724608|PMID:9792860
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:783	end stage renal disease		ISO	RGD:1313332	D	RGD:7242047|PMID:19357112	20130322	RGD			
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:783	end stage renal disease		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:12028435|PMID:16467446|PMID:17942953|PMID:20301386|PMID:24046192|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28704582|PMID:30586318|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36161695
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:784	chronic kidney disease		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|PMID:32723786
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9000104	Glomerular Diseases		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulopathy	PMID:11375996|PMID:25741868|PMID:26809805|PMID:28492532|PMID:36100708
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9000343	Vision Disorders		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:32939031
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9000363	Hematuria		ISO	RGD:1313332	D	RGD:7242047|PMID:19357112	20130322	RGD			
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9000363	Hematuria		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:12028435|PMID:16199547|PMID:16467446|PMID:17216251|PMID:17396119|PMID:17576681|PMID:17942953|PMID:21196518|PMID:21897443|PMID:23551117|PMID:24033287|PMID:24046192|PMID:24052634|PMID:24398087|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27859054|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:29801666|PMID:30586318|PMID:32647767|PMID:33048202|PMID:33532864|PMID:33838161|PMID:33854215|PMID:34584596|PMID:34993602|PMID:35090027|PMID:35759000|PMID:36100708|PMID:36292665|PMID:36349757|PMID:36938085|PMID:37248651|PMID:38317457|PMID:38790222|PMID:39443691|PMID:9536098
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9001961	Hyperkalemia		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperkalemia	PMID:25741868
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9002315	Kidney Calculi		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kidney stone	PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:21897443|PMID:24046192|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28704582|PMID:29801666|PMID:30586318|PMID:33838161|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36100708|PMID:36292665|PMID:37248651|PMID:38790222
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1313332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:12028435|PMID:16467446|PMID:17396119|PMID:17942953|PMID:24033287|PMID:24046192|PMID:24854265|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:28704582|PMID:29496980|PMID:29801666|PMID:30311386|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596|PMID:35090027|PMID:36349757|PMID:38317457|PMID:39443691
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9006352	Benign Familial Hematuria 1		ISO	RGD:1313332	D	RGD:7240710	20230505	OMIM			
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9006352	Benign Familial Hematuria 1		ISO	RGD:1313332	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: COL4A4-related condition	PMID:12325029|PMID:12631110|PMID:16199547|PMID:17216251|PMID:17576681|PMID:19129241|PMID:20301386|PMID:21196518|PMID:21897443|PMID:24052634|PMID:24522496|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27281700|PMID:27859054|PMID:28492532|PMID:28632965|PMID:31049720|PMID:31922066|PMID:33532864|PMID:35419377|PMID:9536098|PMID:9792860
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9006352	Benign Familial Hematuria 1		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COL4A4-related condition | ClinVar Annotator: match by term: HEMATURIA, BENIGN FAMILIAL, 1 | ClinVar Annotator: match by term: Hematuria, benign familial, 1	PMID:11375996|PMID:11961012|PMID:12028435|PMID:15086897|PMID:16199547|PMID:16338941|PMID:16467446|PMID:17216251|PMID:17396119|PMID:17576681|PMID:17942953|PMID:19129241|PMID:19675380|PMID:20301386|PMID:21196518|PMID:21897443|PMID:22887978|PMID:23349334|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24046192|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25596306|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27859054|PMID:28492532|PMID:28632965|PMID:28704582|PMID:28968992|PMID:28976722|PMID:29496980|PMID:29551517|PMID:29801666|PMID:29854973|PMID:29873249|PMID:29907799|PMID:29924831|PMID:30002862|PMID:30076350|PMID:30293248|PMID:30450445|PMID:30586318|PMID:30647093|PMID:31019026|PMID:31049720|PMID:31144478|PMID:31246743|PMID:31312213|PMID:31328266|PMID:31408864|PMID:31589614|PMID:31922066|PMID:32647767|PMID:33003980|PMID:33048202|PMID:33233744|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33838161|PMID:33854215|PMID:34448697|PMID:34584596|PMID:34746741|PMID:34993602|PMID:35090027|PMID:35114279|PMID:35419377|PMID:35759000|PMID:36090501|PMID:36100708|PMID:36117978|PMID:36130833|PMID:36161695|PMID:36292665|PMID:36349757|PMID:36349777|PMID:36370330|PMID:37078890|PMID:37097554|PMID:37147621|PMID:37248651|PMID:37895203|PMID:38317457|PMID:38790222|PMID:38972501|PMID:38978054|PMID:39443691|PMID:9536098|PMID:9792860
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868|PMID:28492532
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9009133	acanthocytosis		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthocytosis	
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9335	scotoma		ISO	RGD:1313332	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Central scotoma	PMID:12028435|PMID:16467446|PMID:17216251|PMID:17942953|PMID:21897443|PMID:24046192|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28704582|PMID:29801666|PMID:30586318|PMID:33838161|PMID:33854215|PMID:34993602|PMID:35759000|PMID:36100708|PMID:36292665|PMID:37248651|PMID:38790222
1305355	Col4a4	collagen type IV alpha 4 chain	gene	DOID:9849	Meniere's disease		ISO	RGD:1313332	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Ménière's disease	PMID:12028435|PMID:16467446|PMID:17576681|PMID:17942953|PMID:24046192|PMID:24052634|PMID:25741868|PMID:28492532|PMID:28658201|PMID:28704582|PMID:9536098
1305356	Srek1ip1	SREK1-interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305356	Srek1ip1	SREK1-interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305356	Srek1ip1	SREK1-interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305356	Srek1ip1	SREK1-interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305356	Srek1ip1	SREK1-interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular adenoma	PMID:25741868
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:10534	stomach cancer		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:1324	lung cancer		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:1909	melanoma		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:4362	cervical cancer		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:4977	lymphedema		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:25741868
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603630	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:630	genetic disease		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:6691	Aagenaes syndrome		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aagenaes syndrome	PMID:25741868
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:9003507	Premature Birth		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:9004291	Osteootohepatoenteric Syndrome		ISO	RGD:1603630	D	RGD:7240710	20210616	OMIM			
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:9004291	Osteootohepatoenteric Syndrome		ISO	RGD:1603630	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: OSTEOOTOHEPATOENTERIC SYNDROME | ClinVar Annotator: match by term: Osteootohepatoenteric syndrome | ClinVar Annotator: match by term: UNC45A-related condition	PMID:25741868|PMID:28492532|PMID:29429573|PMID:31231135|PMID:35575086
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1305357	Unc45a	unc-45 myosin chaperone A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305358	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305358	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305358	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305358	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305358	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305358	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305358	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313336	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305358	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305358	B4galt2	beta-1,4-galactosyltransferase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1313336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305360	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313339	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305360	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305360	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305360	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305360	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:1909	melanoma		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305360	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:3275	thymoma		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305360	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305360	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305360	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305360	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305360	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305360	Acap1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305361	Wfikkn2	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305361	Wfikkn2	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305362	Fam114a2	family with sequence similarity 114, member A2	gene	DOID:10534	stomach cancer		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305362	Fam114a2	family with sequence similarity 114, member A2	gene	DOID:1115	sarcoma		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305362	Fam114a2	family with sequence similarity 114, member A2	gene	DOID:1324	lung cancer		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305362	Fam114a2	family with sequence similarity 114, member A2	gene	DOID:3275	thymoma		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305362	Fam114a2	family with sequence similarity 114, member A2	gene	DOID:4362	cervical cancer		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305362	Fam114a2	family with sequence similarity 114, member A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305362	Fam114a2	family with sequence similarity 114, member A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305362	Fam114a2	family with sequence similarity 114, member A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305363	Mapkap1	MAPK associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305363	Mapkap1	MAPK associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305363	Mapkap1	MAPK associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305363	Mapkap1	MAPK associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305363	Mapkap1	MAPK associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313344	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305363	Mapkap1	MAPK associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305363	Mapkap1	MAPK associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305363	Mapkap1	MAPK associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305363	Mapkap1	MAPK associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:10534	stomach cancer		ISO	RGD:1313346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:1115	sarcoma		ISO	RGD:1313346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:1909	melanoma		ISO	RGD:1313346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:2394	ovarian cancer		ISO	RGD:714011664|RGD:714155182	D	RGD:9068941	20260709	ClinVar		ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: familial ovarian cancer	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:3275	thymoma		ISO	RGD:1313346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:5041	esophageal cancer		ISO	RGD:1313346	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1313346	D	RGD:8554872	20190507	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:6039	uveal melanoma		ISO	RGD:1313346	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313346	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305364	Crocc	ciliary rootlet coiled-coil, rootletin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305366	Hs2st1	heparan sulfate 2-O-sulfotransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305366	Hs2st1	heparan sulfate 2-O-sulfotransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313348	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305366	Hs2st1	heparan sulfate 2-O-sulfotransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305366	Hs2st1	heparan sulfate 2-O-sulfotransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1313348	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305366	Hs2st1	heparan sulfate 2-O-sulfotransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305366	Hs2st1	heparan sulfate 2-O-sulfotransferase 1	gene	DOID:9003425	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS		ISO	RGD:1313348	D	RGD:7240710	20210317	OMIM			
1305366	Hs2st1	heparan sulfate 2-O-sulfotransferase 1	gene	DOID:9003425	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS		ISO	RGD:1313348	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HS2ST1-related condition | ClinVar Annotator: match by term: Neurofacioskeletal syndrome with or without renal agenesis	PMID:25741868
1305366	Hs2st1	heparan sulfate 2-O-sulfotransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305366	Hs2st1	heparan sulfate 2-O-sulfotransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:0080855	Parkinsonism		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868|PMID:28492532
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:0111500	combined oxidative phosphorylation deficiency 23		ISO	RGD:1313350	D	RGD:7240710	20170301	OMIM			
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:0111500	combined oxidative phosphorylation deficiency 23		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23 | ClinVar Annotator: match by term: GTPBP3-related condition	PMID:17576681|PMID:25434004|PMID:25741868|PMID:28492532|PMID:33619562|PMID:37923198|PMID:9536098
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:1059	intellectual disability		ISO	RGD:1313350	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	PMID:25434004|PMID:28492532
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:1059	intellectual disability		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1313350	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25434004|PMID:25741868|PMID:30426380|PMID:34276756|PMID:35413567
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:1247	blood coagulation disease		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868|PMID:28492532
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:1826	epilepsy		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:2355	anemia		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:28492532
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868|PMID:28492532
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:480	movement disease		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:630	genetic disease		ISO	RGD:1313350	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:25434004|PMID:25741868|PMID:28492532|PMID:30426380
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:9005541	autosomal recessive intellectual developmental disorder 53		ISO	RGD:1313350	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: PIGG-related neurodevelopmental disorder	PMID:25741868|PMID:28492532
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:936	brain disease		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532
1305367	Gtpbp3	GTP binding protein 3	gene	DOID:9993	hypoglycemia		ISO	RGD:1313350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:28492532
1305368	Klhl40	kelch-like family member 40	gene	DOID:0060249	scoliosis		ISO	RGD:1313352	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:36322148
1305368	Klhl40	kelch-like family member 40	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:23746549|PMID:25721947|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:34930662|PMID:35379254
1305368	Klhl40	kelch-like family member 40	gene	DOID:0110930	nemaline myopathy 8		ISO	RGD:1313352	D	RGD:7240710	20150708	OMIM			
1305368	Klhl40	kelch-like family member 40	gene	DOID:0110930	nemaline myopathy 8		ISO	RGD:1313352	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEMALINE MYOPATHY 8 | ClinVar Annotator: match by term: Nemaline myopathy 8 | ClinVar Annotator: match by term: Nemaline myopathy 8, autosomal recessive	PMID:16199547|PMID:17576681|PMID:23746549|PMID:24033266|PMID:25721947|PMID:25741868|PMID:26467025|PMID:26578207|PMID:27528495|PMID:27762439|PMID:28492532|PMID:28973083|PMID:30665247|PMID:31360996|PMID:32403337|PMID:34930662|PMID:35131284|PMID:35379254|PMID:36322148|PMID:9536098
1305368	Klhl40	kelch-like family member 40	gene	DOID:0110930	nemaline myopathy 8		ISS	RGD:1313353	D	RGD:13592920	20230718	MouseDO		OMIM:615348	
1305368	Klhl40	kelch-like family member 40	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1313352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus | ClinVar Annotator: match by term: Rocker bottom foot	PMID:23746549|PMID:25721947|PMID:25741868|PMID:28492532|PMID:34930662
1305368	Klhl40	kelch-like family member 40	gene	DOID:11111	hydronephrosis		ISO	RGD:1313352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:23746549|PMID:25721947|PMID:25741868|PMID:28492532|PMID:34930662
1305368	Klhl40	kelch-like family member 40	gene	DOID:11830	myopia		ISO	RGD:1313352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1305368	Klhl40	kelch-like family member 40	gene	DOID:11836	clubfoot		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254
1305368	Klhl40	kelch-like family member 40	gene	DOID:2030	anxiety disorder		ISO	RGD:1313352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1305368	Klhl40	kelch-like family member 40	gene	DOID:2355	anemia		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254
1305368	Klhl40	kelch-like family member 40	gene	DOID:2841	asthma		ISO	RGD:1313352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
1305368	Klhl40	kelch-like family member 40	gene	DOID:630	genetic disease		ISO	RGD:1313352	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
1305368	Klhl40	kelch-like family member 40	gene	DOID:674	cleft palate		ISO	RGD:1313352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:23746549|PMID:25721947|PMID:25741868|PMID:28492532|PMID:34930662
1305368	Klhl40	kelch-like family member 40	gene	DOID:767	muscular atrophy		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254
1305368	Klhl40	kelch-like family member 40	gene	DOID:8488	polyhydramnios		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:23746549|PMID:25721947|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:34930662|PMID:35379254
1305368	Klhl40	kelch-like family member 40	gene	DOID:9003671	Hypoventilation		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoventilation	PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254
1305368	Klhl40	kelch-like family member 40	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:23746549|PMID:25721947|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:34930662|PMID:35379254
1305368	Klhl40	kelch-like family member 40	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313352	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:23746549|PMID:25721947|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:34930662|PMID:35379254|PMID:36322148
1305368	Klhl40	kelch-like family member 40	gene	DOID:9005827	Spontaneous Fractures		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pathologic fracture	PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254
1305369	Nkx3-1	NK3 homeobox 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305369	Nkx3-1	NK3 homeobox 1	gene	DOID:10283	prostate cancer		ISS	RGD:1313355	D	RGD:13592920	20180518	MouseDO		OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959	
1305369	Nkx3-1	NK3 homeobox 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313354	D	RGD:14401599|PMID:28972178	20190514	RGD		mRNA:decreased expression:liver	
1305369	Nkx3-1	NK3 homeobox 1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1313354	D	RGD:14401599|PMID:28972178	20190514	RGD		human gene in a mouse model	
1305369	Nkx3-1	NK3 homeobox 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313354	D	RGD:11554173	20200908	CTD		CTD Direct Evidence: marker/mechanism	PMID:16817226|PMID:17173048|PMID:17202838|PMID:22610119|PMID:32690948
1305369	Nkx3-1	NK3 homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:10941	intracranial aneurysm		ISO	RGD:1313358	D	RGD:329853324|PMID:25596186	20230614	RGD		protein:decreased expression:middle cerebral artery (human)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:10941	intracranial aneurysm	no_association	ISO	RGD:1313358	D	RGD:329955568|PMID:31250579	20230717	RGD		DNA:SNP:enhancer: (rs10958409) (human)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:1313358	D	RGD:329853325|PMID:29191544	20230614	RGD		DNA:SNP:enhancer: (rs1072737) (human)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:1313358	D	RGD:329853736|PMID:22961961	20230615	RGD		DNA:SNP:enhancer: (rs1072737) (human)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:1313358	D	RGD:329955463|PMID:31040677	20230712	RGD		DNA:SNP:enhancer: (rs1072737) (human)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:1313358	D	RGD:329955465|PMID:20364137	20230712	RGD		DNA:SNP:enhancer: (rs10958409) (human)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:1313358	D	RGD:329955569|PMID:18997786	20230717	RGD		DNA:SNP:enhancer: (rs10958409) (human)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:11561	hypertensive retinopathy	treatment	ISO	RGD:1313359	D	RGD:329853320|PMID:36200131	20230614	RGD			
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:13608	biliary atresia		ISS	RGD:1313359	D	RGD:13592920	20180518	MouseDO			
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1313358	D	RGD:329853328|PMID:33794346	20230614	RGD		DNA:nonsense mutation:CDS:p.E185* (human)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:1313358	D	RGD:329853737|PMID:36919784	20230615	RGD		protein:decreased expression:pulmonary artery (human)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:4362	cervical cancer		ISO	RGD:1313358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:4947	cholangiocarcinoma	severity	IEP		D	RGD:4889598|PMID:20816680	20110531	RGD			
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:630	genetic disease		ISO	RGD:1313358	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:6432	pulmonary hypertension		IEP		D	RGD:329853317|PMID:36913491	20230614	RGD		protein:decreased expression:lung (rat)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1313358	D	RGD:329853313|PMID:30029678	20230614	RGD		associated with congenital heart disease;DNA:mutations:multiple (human)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1313358	D	RGD:329853317|PMID:36913491	20230614	RGD		protein:decreased expression:lung endothelium (human)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1313358	D	RGD:329853326|PMID:33952808	20230614	RGD		DNA:nonsense mutation:CDS:p.Q127* (human)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1313358	D	RGD:8554872	20250603	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: SOX17-related pulmonary arterial hypertension	PMID:25741868|PMID:28492532
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9001820	Pulmonary Arterial Hypertension	onset	ISO	RGD:1313358	D	RGD:329853735|PMID:29650961	20230615	RGD		DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple (human)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9001820	Pulmonary Arterial Hypertension	susceptibility	ISO	RGD:1313358	D	RGD:329955464|PMID:30527955	20230712	RGD		DNA:SNPs:enhancers: (rs10103692, rs13266183) (human)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9004716	Vesicoureteral Reflux 3		ISO	RGD:1313358	D	RGD:7240710	20131030	OMIM			
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9004716	Vesicoureteral Reflux 3		ISO	RGD:1313358	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SOX17-related condition | ClinVar Annotator: match by term: VESICOURETERAL REFLUX 3 | ClinVar Annotator: match by term: Vesicoureteral reflux 3	PMID:25741868|PMID:28492532|PMID:30029678
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced		ISO	RGD:1313359	D	RGD:329853737|PMID:36919784	20230615	RGD		protein:decreased expression:pulmonary artery endothelium (mouse)	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	exacerbates	ISO	RGD:1313359	D	RGD:329853316|PMID:37066790	20230614	RGD			
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	exacerbates	ISO	RGD:1313359	D	RGD:329853317|PMID:36913491	20230614	RGD			
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	exacerbates	ISO	RGD:1313359	D	RGD:329853734|PMID:36205124	20230615	RGD			
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9007337	Teratogenesis		ISO	RGD:1313358	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24154490
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1313358	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18413743
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9009354	primary pulmonary hypertension 7		ISO	RGD:1313358	D	RGD:7240710	20250730	OMIM			
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9009354	primary pulmonary hypertension 7		ISO	RGD:1313358	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PRIMARY PULMONARY HYPERTENSION 7 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 7	PMID:25741868
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1313358	D	RGD:11554173	20170822	CTD		CTD Direct Evidence: marker/mechanism	
1305371	Sox17	SRY-box transcription factor 17	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1313358	D	RGD:8554872	20180508	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868
1305373	Eif6	eukaryotic translation initiation factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305373	Eif6	eukaryotic translation initiation factor 6	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1313362	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Exstrophy-epispadias complex	PMID:25741868
1305373	Eif6	eukaryotic translation initiation factor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305373	Eif6	eukaryotic translation initiation factor 6	gene	DOID:1909	melanoma		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305373	Eif6	eukaryotic translation initiation factor 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305373	Eif6	eukaryotic translation initiation factor 6	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1313362	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1305373	Eif6	eukaryotic translation initiation factor 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305373	Eif6	eukaryotic translation initiation factor 6	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1305373	Eif6	eukaryotic translation initiation factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305373	Eif6	eukaryotic translation initiation factor 6	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1305373	Eif6	eukaryotic translation initiation factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305373	Eif6	eukaryotic translation initiation factor 6	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313362	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151356
1305373	Eif6	eukaryotic translation initiation factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305374	B3gnt8	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1313364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305374	B3gnt8	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305375	Galk1	galactokinase 1	gene	DOID:0060733	junctional epidermolysis bullosa with pyloric atresia		ISO	RGD:1313365	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia	PMID:10484780|PMID:11328943|PMID:11886501|PMID:12485428|PMID:18955862|PMID:20301304|PMID:23496044|PMID:25741868|PMID:28492532|PMID:9792864|PMID:9892956
1305375	Galk1	galactokinase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1313365	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305375	Galk1	galactokinase 1	gene	DOID:14695	galactokinase deficiency		ISO	RGD:1313365	D	RGD:7240710	20180130	OMIM			
1305375	Galk1	galactokinase 1	gene	DOID:14695	galactokinase deficiency		ISO	RGD:1313365	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deficiency of galactokinase | ClinVar Annotator: match by term: GALACTOSEMIA II | ClinVar Annotator: match by term: GALK1-related condition | ClinVar Annotator: match by term: Galactokinase deficiency with cataracts	PMID:10521295|PMID:10570908|PMID:10790206|PMID:11139256|PMID:11231902|PMID:11978883|PMID:11978884|PMID:12647253|PMID:12694189|PMID:12796487|PMID:12942049|PMID:14596685|PMID:15024738|PMID:15590630|PMID:16199547|PMID:17517531|PMID:17576681|PMID:19309526|PMID:20405025|PMID:21264483|PMID:21290184|PMID:22632133|PMID:25741868|PMID:27307692|PMID:27334249|PMID:28173647|PMID:28253266|PMID:28418495|PMID:28429145|PMID:28468868|PMID:28492532|PMID:28672748|PMID:29505688|PMID:29770612|PMID:29893426|PMID:32807972|PMID:33562227|PMID:33763395|PMID:38090149|PMID:7670469|PMID:9536098
1305375	Galk1	galactokinase 1	gene	DOID:1909	melanoma		ISO	RGD:1313365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305375	Galk1	galactokinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305375	Galk1	galactokinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305375	Galk1	galactokinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305375	Galk1	galactokinase 1	gene	DOID:630	genetic disease		ISO	RGD:1313365	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305375	Galk1	galactokinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305375	Galk1	galactokinase 1	gene	DOID:83	cataract		ISO	RGD:1313365	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:7670469
1305375	Galk1	galactokinase 1	gene	DOID:83	cataract		ISO	RGD:1313365	D	RGD:1300192|PMID:7670469	20070111	RGD		DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human)	
1305375	Galk1	galactokinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305375	Galk1	galactokinase 1	gene	DOID:9870	galactosemia		ISO	RGD:1313365	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:7670469
1305376	Srp68	signal recognition particle 68	gene	DOID:10534	stomach cancer		ISO	RGD:1313366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305376	Srp68	signal recognition particle 68	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305376	Srp68	signal recognition particle 68	gene	DOID:1115	sarcoma		ISO	RGD:1313366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305376	Srp68	signal recognition particle 68	gene	DOID:37	skin disease		ISO	RGD:1313366	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1305376	Srp68	signal recognition particle 68	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305376	Srp68	signal recognition particle 68	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305376	Srp68	signal recognition particle 68	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305376	Srp68	signal recognition particle 68	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305376	Srp68	signal recognition particle 68	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305376	Srp68	signal recognition particle 68	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1313366	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1305376	Srp68	signal recognition particle 68	gene	DOID:9008627	Severe Congenital Neutropenia 10		ISO	RGD:1313366	D	RGD:7240710	20231011	OMIM			
1305376	Srp68	signal recognition particle 68	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1313366	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
1305376	Srp68	signal recognition particle 68	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305376	Srp68	signal recognition particle 68	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305377	Best2	bestrophin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305377	Best2	bestrophin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305377	Best2	bestrophin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305378	Mtmr6	myotubularin related protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305378	Mtmr6	myotubularin related protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:1313370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305378	Mtmr6	myotubularin related protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305378	Mtmr6	myotubularin related protein 6	gene	DOID:1909	melanoma		ISO	RGD:1313370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305378	Mtmr6	myotubularin related protein 6	gene	DOID:3275	thymoma		ISO	RGD:1313370	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305378	Mtmr6	myotubularin related protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1313370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305378	Mtmr6	myotubularin related protein 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305378	Mtmr6	myotubularin related protein 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1313370	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305378	Mtmr6	myotubularin related protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305378	Mtmr6	myotubularin related protein 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:0061189	neuronal ceroid lipofuscinosis 15		ISO	RGD:1313372	D	RGD:7240710	20221116	OMIM			
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:0061189	neuronal ceroid lipofuscinosis 15		ISO	RGD:1313372	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 15 | ClinVar Annotator: match by term: CLCN6-related condition | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33217309|PMID:38095064|PMID:9536098
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:0110731	neuronal ceroid lipofuscinosis 3		ISS	RGD:1313373	D	RGD:13592920	20180518	MouseDO		OMIM:204200	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:10534	stomach cancer		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:1115	sarcoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:1324	lung cancer		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:3275	thymoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1313372	D	RGD:14696742|PMID:26740945	20190723	RGD		DNA:SNP: :rs3737964(human)	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1313372	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:540	strabismus		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305379	Clcn6	Cl-/H+ antiporter 6	gene	DOID:9970	obesity		ISO	RGD:1313372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
1305381	Relt	RELT, TNF receptor	gene	DOID:0111722	amelogenesis imperfecta type 3C		ISO	RGD:1313376	D	RGD:7240710	20190424	OMIM			
1305381	Relt	RELT, TNF receptor	gene	DOID:0111722	amelogenesis imperfecta type 3C		ISO	RGD:1313376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIC | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3C | ClinVar Annotator: match by term: RELT-related condition	PMID:25741868|PMID:28492532|PMID:32052416
1305381	Relt	RELT, TNF receptor	gene	DOID:0111722	amelogenesis imperfecta type 3C		ISS	RGD:1313377	D	RGD:13592920	20230718	MouseDO		OMIM:618386	
1305381	Relt	RELT, TNF receptor	gene	DOID:10534	stomach cancer		ISO	RGD:1313376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305381	Relt	RELT, TNF receptor	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1313376	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta	PMID:25741868|PMID:30506946|PMID:32052416
1305381	Relt	RELT, TNF receptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305381	Relt	RELT, TNF receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:1313376	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305381	Relt	RELT, TNF receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305381	Relt	RELT, TNF receptor	gene	DOID:630	genetic disease		ISO	RGD:1313376	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305381	Relt	RELT, TNF receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305381	Relt	RELT, TNF receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305381	Relt	RELT, TNF receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305381	Relt	RELT, TNF receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:0080600	COVID-19		ISO	RGD:1313378	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:10534	stomach cancer		ISO	RGD:1313378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:1324	lung cancer		ISO	RGD:1313378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:3275	thymoma		ISO	RGD:1313378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:4362	cervical cancer		ISO	RGD:1313378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:5041	esophageal cancer		ISO	RGD:1313378	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313378	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313378	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:9003566	Mesothelioma		ISO	RGD:1313378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:9004814	Chromosome Aberrations		ISO	RGD:1313378	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: therapeutic	PMID:27129209
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313378	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17659439
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305382	Ube2c	ubiquitin-conjugating enzyme E2C	gene	DOID:9256	colorectal cancer		ISO	RGD:1313378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305383	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:4362	cervical cancer		ISO	RGD:1313380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305383	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305383	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1313380	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1305383	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305383	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313380	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305383	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1313380	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
1305383	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305383	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305383	Arhgdib	Rho GDP dissociation inhibitor beta	gene	DOID:9256	colorectal cancer		ISO	RGD:1313380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305384	Cpt1c	carnitine palmitoyltransferase 1c	gene	DOID:0110818	hereditary spastic paraplegia 73		ISO	RGD:1313382	D	RGD:7240710	20170412	OMIM			
1305384	Cpt1c	carnitine palmitoyltransferase 1c	gene	DOID:0110818	hereditary spastic paraplegia 73		ISO	RGD:1313382	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 | ClinVar Annotator: match by term: Spastic paraplegia 73, autosomal dominant	PMID:16199547|PMID:17576681|PMID:25741868|PMID:25751282|PMID:28492532|PMID:30564185|PMID:30911584|PMID:9536098
1305384	Cpt1c	carnitine palmitoyltransferase 1c	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305384	Cpt1c	carnitine palmitoyltransferase 1c	gene	DOID:1909	melanoma		ISO	RGD:1313382	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778180
1305384	Cpt1c	carnitine palmitoyltransferase 1c	gene	DOID:1909	melanoma		ISO	RGD:1313382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305384	Cpt1c	carnitine palmitoyltransferase 1c	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1313382	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: hereditary spastic paraplegia	PMID:25741868|PMID:28492532
1305384	Cpt1c	carnitine palmitoyltransferase 1c	gene	DOID:3275	thymoma		ISO	RGD:1313382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305384	Cpt1c	carnitine palmitoyltransferase 1c	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305384	Cpt1c	carnitine palmitoyltransferase 1c	gene	DOID:4362	cervical cancer		ISO	RGD:1313382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305384	Cpt1c	carnitine palmitoyltransferase 1c	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1313382	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
1305384	Cpt1c	carnitine palmitoyltransferase 1c	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305384	Cpt1c	carnitine palmitoyltransferase 1c	gene	DOID:607	paraplegia		ISO	RGD:1313382	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868
1305384	Cpt1c	carnitine palmitoyltransferase 1c	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305385	Hrob	homologous recombination factor with OB-fold	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305385	Hrob	homologous recombination factor with OB-fold	gene	DOID:10534	stomach cancer		ISO	RGD:1602101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305385	Hrob	homologous recombination factor with OB-fold	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305385	Hrob	homologous recombination factor with OB-fold	gene	DOID:4362	cervical cancer		ISO	RGD:1602101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305385	Hrob	homologous recombination factor with OB-fold	gene	DOID:5041	esophageal cancer		ISO	RGD:1602101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305385	Hrob	homologous recombination factor with OB-fold	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305385	Hrob	homologous recombination factor with OB-fold	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305385	Hrob	homologous recombination factor with OB-fold	gene	DOID:9009118	Ovarian Dysgenesis 11		ISO	RGD:1602101	D	RGD:7240710	20240731	OMIM			
1305385	Hrob	homologous recombination factor with OB-fold	gene	DOID:9009118	Ovarian Dysgenesis 11		ISO	RGD:1602101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OVARIAN DYSGENESIS 11	
1305385	Hrob	homologous recombination factor with OB-fold	gene	DOID:9256	colorectal cancer		ISO	RGD:1602101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305386	Fnbp1l	formin binding protein 1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305386	Fnbp1l	formin binding protein 1-like	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1346897	D	RGD:11554173	20250819	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1305386	Fnbp1l	formin binding protein 1-like	gene	DOID:4362	cervical cancer		ISO	RGD:1346897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305386	Fnbp1l	formin binding protein 1-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1346897	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305386	Fnbp1l	formin binding protein 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305386	Fnbp1l	formin binding protein 1-like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305386	Fnbp1l	formin binding protein 1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305386	Fnbp1l	formin binding protein 1-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305387	Hsdl2	hydroxysteroid dehydrogenase like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305387	Hsdl2	hydroxysteroid dehydrogenase like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305387	Hsdl2	hydroxysteroid dehydrogenase like 2	gene	DOID:1324	lung cancer		ISO	RGD:1350650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305387	Hsdl2	hydroxysteroid dehydrogenase like 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1350650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305387	Hsdl2	hydroxysteroid dehydrogenase like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305387	Hsdl2	hydroxysteroid dehydrogenase like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305387	Hsdl2	hydroxysteroid dehydrogenase like 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1350650	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030
1305387	Hsdl2	hydroxysteroid dehydrogenase like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305388	Josd1	Josephin domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305388	Josd1	Josephin domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305388	Josd1	Josephin domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305388	Josd1	Josephin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305390	Plk4	polo-like kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305390	Plk4	polo-like kinase 4	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
1305390	Plk4	polo-like kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305390	Plk4	polo-like kinase 4	gene	DOID:0060058	lymphoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305390	Plk4	polo-like kinase 4	gene	DOID:0080105	microcephaly and chorioretinopathy 1		ISO	RGD:1313392	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1305390	Plk4	polo-like kinase 4	gene	DOID:0080106	microcephaly and chorioretinopathy 2		ISO	RGD:1313392	D	RGD:7240710	20171018	OMIM			
1305390	Plk4	polo-like kinase 4	gene	DOID:0080106	microcephaly and chorioretinopathy 2		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 | ClinVar Annotator: match by term: PLK4-related condition	PMID:25320347|PMID:25344692|PMID:25741868|PMID:28492532|PMID:30842647
1305390	Plk4	polo-like kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305390	Plk4	polo-like kinase 4	gene	DOID:10907	microcephaly		ISO	RGD:1313392	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25344692
1305390	Plk4	polo-like kinase 4	gene	DOID:10907	microcephaly		ISO	RGD:1313392	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1305390	Plk4	polo-like kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305390	Plk4	polo-like kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305390	Plk4	polo-like kinase 4	gene	DOID:219	colon cancer		ISO	RGD:1313392	D	RGD:11075990|PMID:26439168	20200521	RGD		protein:increased expression:colon	
1305390	Plk4	polo-like kinase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305390	Plk4	polo-like kinase 4	gene	DOID:3007	breast ductal carcinoma		ISO	RGD:1313392	D	RGD:11075990|PMID:26439168	20200521	RGD		protein:increased expression:breast	
1305390	Plk4	polo-like kinase 4	gene	DOID:3275	thymoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305390	Plk4	polo-like kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1313392	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1305390	Plk4	polo-like kinase 4	gene	DOID:5723	optic atrophy		ISO	RGD:1313392	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1305390	Plk4	polo-like kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305390	Plk4	polo-like kinase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305390	Plk4	polo-like kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305390	Plk4	polo-like kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313392	D	RGD:27226690|PMID:21324136	20200521	RGD		DNA:hypermethylation:promoter	
1305390	Plk4	polo-like kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305390	Plk4	polo-like kinase 4	gene	DOID:684	hepatocellular carcinoma	sexual_dimorphism	ISO	RGD:1313393	D	RGD:27226690|PMID:21324136	20200521	RGD			
1305390	Plk4	polo-like kinase 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313392	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1305390	Plk4	polo-like kinase 4	gene	DOID:8947	diabetic retinopathy	treatment	IEP		D	RGD:401850543|PMID:33416109	20231019	RGD			
1305390	Plk4	polo-like kinase 4	gene	DOID:9002525	Hereditary Eye Diseases		ISO	RGD:1313392	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25344692
1305390	Plk4	polo-like kinase 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305390	Plk4	polo-like kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305390	Plk4	polo-like kinase 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1313392	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25344692
1305390	Plk4	polo-like kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:1115	sarcoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:1324	lung cancer		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:1909	melanoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1313394	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:9002669	Hypoxia		IEP		D	RGD:9590077|PMID:24893663	20141112	RGD		protein:decreased dimerization:hippocampus (rat)	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305391	Nap1l4	nucleosome assembly protein 1-like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305393	Tigd3	tigger transposable element derived 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305393	Tigd3	tigger transposable element derived 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305393	Tigd3	tigger transposable element derived 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1313398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305394	Acy3	aminoacylase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305394	Acy3	aminoacylase 3	gene	DOID:0060058	lymphoma		ISO	RGD:1352202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305394	Acy3	aminoacylase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1352202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305394	Acy3	aminoacylase 3	gene	DOID:1909	melanoma		ISO	RGD:1352202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305394	Acy3	aminoacylase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1352202	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305394	Acy3	aminoacylase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305394	Acy3	aminoacylase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:1115	sarcoma		ISO	RGD:1313400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:1909	melanoma		ISO	RGD:1313400	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30619488
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:1909	melanoma		ISO	RGD:1313400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:1313400	D	RGD:640480045|PMID:41320721	20260325	RGD			
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1313400	D	RGD:640480045|PMID:41320721	20260325	RGD			
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1313400	D	RGD:640480045|PMID:41320721	20260325	RGD			
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:6039	uveal melanoma		ISO	RGD:1313400	D	RGD:11554173	20260414	CTD		CTD Direct Evidence: marker/mechanism	PMID:30619488
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:8923	skin melanoma		ISO	RGD:1313400	D	RGD:11554173	20241224	CTD		CTD Direct Evidence: marker/mechanism	PMID:30619488
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313400	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30619488
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1313400	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30619488
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:9003566	Mesothelioma		ISO	RGD:1313400	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30619488
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305395	Jmjd6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313400	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30619488
1305397	Rbsn	rabenosyn, RAB effector	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305397	Rbsn	rabenosyn, RAB effector	gene	DOID:0061158	Kariminejad neurodevelopmental syndrome		ISO	RGD:1313404	D	RGD:7240710	20241016	OMIM			
1305397	Rbsn	rabenosyn, RAB effector	gene	DOID:0061158	Kariminejad neurodevelopmental syndrome		ISO	RGD:1313404	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KARIMINEJAD NEURODEVELOPMENTAL SYNDROME	
1305397	Rbsn	rabenosyn, RAB effector	gene	DOID:1115	sarcoma		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305397	Rbsn	rabenosyn, RAB effector	gene	DOID:1909	melanoma		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305397	Rbsn	rabenosyn, RAB effector	gene	DOID:4362	cervical cancer		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305397	Rbsn	rabenosyn, RAB effector	gene	DOID:5041	esophageal cancer		ISO	RGD:1313404	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305397	Rbsn	rabenosyn, RAB effector	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305397	Rbsn	rabenosyn, RAB effector	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305397	Rbsn	rabenosyn, RAB effector	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305397	Rbsn	rabenosyn, RAB effector	gene	DOID:9009179	MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND		ISO	RGD:1313404	D	RGD:7240710	20241016	OMIM			
1305397	Rbsn	rabenosyn, RAB effector	gene	DOID:9009179	MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND		ISO	RGD:1313404	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities	
1305397	Rbsn	rabenosyn, RAB effector	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305398	Taf13	TATA-box binding protein associated factor 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305398	Taf13	TATA-box binding protein associated factor 13	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1313406	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: autosomal recessive primary microcephaly	PMID:25741868
1305398	Taf13	TATA-box binding protein associated factor 13	gene	DOID:0081222	autosomal recessive intellectual developmental disorder 60		ISO	RGD:1313406	D	RGD:7240710	20190315	OMIM			
1305398	Taf13	TATA-box binding protein associated factor 13	gene	DOID:0081222	autosomal recessive intellectual developmental disorder 60		ISO	RGD:1313406	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 60 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 60 | ClinVar Annotator: match by term: TAF13-related condition	PMID:25741868|PMID:28257693
1305398	Taf13	TATA-box binding protein associated factor 13	gene	DOID:3275	thymoma		ISO	RGD:1313406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305398	Taf13	TATA-box binding protein associated factor 13	gene	DOID:4362	cervical cancer		ISO	RGD:1313406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1305398	Taf13	TATA-box binding protein associated factor 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
1305398	Taf13	TATA-box binding protein associated factor 13	gene	DOID:5419	schizophrenia		ISO	RGD:1313406	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
1305398	Taf13	TATA-box binding protein associated factor 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1305398	Taf13	TATA-box binding protein associated factor 13	gene	DOID:630	genetic disease		ISO	RGD:1313406	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305398	Taf13	TATA-box binding protein associated factor 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:0061075	immunodeficiency 106		ISO	RGD:1313408	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IFNAR1 DEFICIENCY | ClinVar Annotator: match by term: IFNAR1-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS | ClinVar Annotator: match by term: Immunodeficiency 106, susceptibility to viral infections | ClinVar Annotator: match by term: immunodeficiency 106, susceptibility to viral infections	PMID:16199547|PMID:25741868|PMID:28492532|PMID:31270247|PMID:32960813
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:0061075	immunodeficiency 106	susceptibility	ISO	RGD:1313408	D	RGD:7240710	20220720	OMIM			
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:0080600	COVID-19		ISO	RGD:1313408	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:10533	viral pneumonia		ISO	RGD:1313409	D	RGD:5490272|PMID:21383977	20110912	RGD		H1N1 virus susceptibility	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:10533	viral pneumonia	disease_progression	ISO	RGD:1313409	D	RGD:9068941	20200609	RGD			PMID:21383977|REF_RGD_ID:5490272
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:12155	lymphocytic choriomeningitis		ISO	RGD:1313409	D	RGD:124715479|PMID:24760883	20210326	RGD			
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:12155	lymphocytic choriomeningitis	disease_progression	ISO	RGD:1313409	D	RGD:124715467|PMID:28878077	20210325	RGD		DNA:mutation: :	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:1883	hepatitis C	resistance	ISO	RGD:1313408	D	RGD:5147491|PMID:21756311	20110809	RGD			
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313408	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:552	pneumonia		ISO	RGD:1313409	D	RGD:5490275|PMID:18566423	20110912	RGD		Cryptococcus (yeast) pneumonia	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:552	pneumonia	resistance	ISO	RGD:1313409	D	RGD:9068941	20200609	RGD		Cryptococcus (yeast) pneumonia	PMID:18566423|REF_RGD_ID:5490275
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:8704	genital herpes	exacerbates	ISO	RGD:1313409	D	RGD:125093738|PMID:28264883	20210329	RGD			
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:874	bacterial pneumonia		ISO	RGD:1313409	D	RGD:5490274|PMID:19487810	20110912	RGD			
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:1313409	D	RGD:9068941	20200609	RGD			PMID:19487810|REF_RGD_ID:5490274
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9001049	Staphylococcal Pneumonia		ISO	RGD:1313409	D	RGD:5490273|PMID:19603548	20110912	RGD			
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9001049	Staphylococcal Pneumonia	susceptibility	ISO	RGD:1313409	D	RGD:9068941	20200609	RGD			PMID:19603548|REF_RGD_ID:5490273
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9004531	Cardiovirus Infections		IMP		D	RGD:12910492|PMID:27999109	20201210	RGD			
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9004531	Cardiovirus Infections	susceptibility	IMP		D	RGD:12910492|PMID:27999109	20170616	RGD			
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9005643	Experimental Diabetes Mellitus		IMP		D	RGD:12910492|PMID:27999109	20170616	RGD			
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305399	Ifnar1	interferon alpha and beta receptor subunit 1	gene	DOID:934	viral infectious disease		ISO	RGD:1313408	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18722370
1305401	Nipa1	NIPA magnesium transporter 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305401	Nipa1	NIPA magnesium transporter 1	gene	DOID:0110811	hereditary spastic paraplegia 6		ISO	RGD:1606742	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305401	Nipa1	NIPA magnesium transporter 1	gene	DOID:0110811	hereditary spastic paraplegia 6		ISO	RGD:1606742	D	RGD:7240710	20130221	OMIM			
1305401	Nipa1	NIPA magnesium transporter 1	gene	DOID:0110811	hereditary spastic paraplegia 6		ISO	RGD:1606742	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 | ClinVar Annotator: match by term: NIPA1-related condition	PMID:14508710|PMID:15643603|PMID:15711826|PMID:16267846|PMID:17092466|PMID:17166836|PMID:17268193|PMID:17928003|PMID:18191948|PMID:19091982|PMID:19620182|PMID:20816793|PMID:21419568|PMID:21599812|PMID:22302102|PMID:22378146|PMID:23032108|PMID:23850684|PMID:24075313|PMID:24128679|PMID:25341883|PMID:25689425|PMID:25741868|PMID:26467025|PMID:27084228|PMID:28492532|PMID:28832565|PMID:29934652|PMID:31104286|PMID:31630374|PMID:32500351|PMID:32581362|PMID:7825577
1305401	Nipa1	NIPA magnesium transporter 1	gene	DOID:0110811	hereditary spastic paraplegia 6		ISO	RGD:1606742	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 | ClinVar Annotator: match by term: NIPA1-related condition | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT	PMID:14508710|PMID:17166836|PMID:19091982|PMID:20816793|PMID:22378146|PMID:25741868|PMID:26467025|PMID:27084228|PMID:28492532|PMID:31630374
1305401	Nipa1	NIPA magnesium transporter 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1606742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:26467025|PMID:28492532
1305401	Nipa1	NIPA magnesium transporter 1	gene	DOID:607	paraplegia		ISO	RGD:1606742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868|PMID:28492532|PMID:34983064
1305401	Nipa1	NIPA magnesium transporter 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305401	Nipa1	NIPA magnesium transporter 1	gene	DOID:630	genetic disease		ISO	RGD:1606742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305401	Nipa1	NIPA magnesium transporter 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305402	Commd8	COMM domain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305402	Commd8	COMM domain containing 8	gene	DOID:0060305	megalocornea		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megalocornea	PMID:25741868
1305402	Commd8	COMM domain containing 8	gene	DOID:10892	hypospadias		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1305402	Commd8	COMM domain containing 8	gene	DOID:1324	lung cancer		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305402	Commd8	COMM domain containing 8	gene	DOID:13620	patent foramen ovale		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:25741868
1305402	Commd8	COMM domain containing 8	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1305402	Commd8	COMM domain containing 8	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1305402	Commd8	COMM domain containing 8	gene	DOID:1909	melanoma		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305402	Commd8	COMM domain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1313413	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305402	Commd8	COMM domain containing 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305402	Commd8	COMM domain containing 8	gene	DOID:9001031	Retrognathia		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1305402	Commd8	COMM domain containing 8	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1305402	Commd8	COMM domain containing 8	gene	DOID:9001510	Funnel Chest		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1305402	Commd8	COMM domain containing 8	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868
1305402	Commd8	COMM domain containing 8	gene	DOID:9003133	Hypertelorism		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1305402	Commd8	COMM domain containing 8	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:25741868
1305402	Commd8	COMM domain containing 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1305402	Commd8	COMM domain containing 8	gene	DOID:9005616	Micrognathism		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1305402	Commd8	COMM domain containing 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1305402	Commd8	COMM domain containing 8	gene	DOID:930	orbital disease		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868
1305403	Ankrd34c	ankyrin repeat domain 34C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2291762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305404	Lect2	leukocyte cell-derived chemotaxin 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1313416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305404	Lect2	leukocyte cell-derived chemotaxin 2	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1313416	D	RGD:153323337|PMID:30453282	20220817	RGD		human cells in mouse model	
1305404	Lect2	leukocyte cell-derived chemotaxin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305404	Lect2	leukocyte cell-derived chemotaxin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313416	D	RGD:153323333|PMID:24892551	20220817	RGD		protein:increased expression:blood serum (human)	
1305404	Lect2	leukocyte cell-derived chemotaxin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313417	D	RGD:153323333|PMID:24892551	20220817	RGD		protein:increased expression:blood serum (mouse)	
1305404	Lect2	leukocyte cell-derived chemotaxin 2	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1313416	D	RGD:153323335|PMID:21394108	20220817	RGD		human cells in mouse model	
1305404	Lect2	leukocyte cell-derived chemotaxin 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313416	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: therapeutic	PMID:30453282
1305404	Lect2	leukocyte cell-derived chemotaxin 2	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1313416	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: therapeutic	PMID:30453282
1305404	Lect2	leukocyte cell-derived chemotaxin 2	gene	DOID:9003690	Carcinoma, Lewis Lung		ISO	RGD:1313416	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: therapeutic	PMID:30453282
1305404	Lect2	leukocyte cell-derived chemotaxin 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1313416	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: therapeutic	PMID:30453282
1305405	Zcwpw1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305405	Zcwpw1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305405	Zcwpw1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305405	Zcwpw1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305405	Zcwpw1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305405	Zcwpw1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305405	Zcwpw1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305405	Zcwpw1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313418	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305405	Zcwpw1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305405	Zcwpw1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305405	Zcwpw1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313418	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:0112372	Coffin-Siris syndrome 11		ISO	RGD:1313419	D	RGD:7240710	20200226	OMIM			
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:0112372	Coffin-Siris syndrome 11		ISO	RGD:1313419	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 11 | ClinVar Annotator: match by term: Coffin-Siris syndrome 11	PMID:25741868
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:10534	stomach cancer		ISO	RGD:1313419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:1168	familial hyperlipidemia		IEP		D	RGD:9586357|PMID:24615205	20140929	RGD		mRNA:decreased expression:thoracic aorta	
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:4362	cervical cancer		ISO	RGD:1313419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313419	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:630	genetic disease		ISO	RGD:1313419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313419	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305406	Smarcd1	SWI/SNF related BAF chromatin remodeling complex subunit D1	gene	DOID:987	alopecia		ISO	RGD:1313419	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Alopecia, androgenetic, 1	
1305407	Ky	kyphoscoliosis peptidase	gene	DOID:0080098	myofibrillar myopathy 7		ISO	RGD:1313421	D	RGD:7240710	20190315	OMIM			
1305407	Ky	kyphoscoliosis peptidase	gene	DOID:0080307	myofibrillar myopathy		ISO	RGD:1313421	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1305407	Ky	kyphoscoliosis peptidase	gene	DOID:0080600	COVID-19		ISO	RGD:1313421	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305408	Foxk2	forkhead box K2	gene	DOID:12336	male infertility		ISO	RGD:1313423	D	RGD:11554173	20201012	CTD		CTD Direct Evidence: marker/mechanism	PMID:32522586
1305408	Foxk2	forkhead box K2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305408	Foxk2	forkhead box K2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305408	Foxk2	forkhead box K2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313423	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305408	Foxk2	forkhead box K2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305408	Foxk2	forkhead box K2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:10534	stomach cancer		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:1115	sarcoma		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:1324	lung cancer		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:1909	melanoma		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:4362	cervical cancer		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1313426	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305410	Ttc17	tetratricopeptide repeat domain 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305411	Cdc34	cell division cycle 34, ubiquitin conjugating enzyme	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305411	Cdc34	cell division cycle 34, ubiquitin conjugating enzyme	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305411	Cdc34	cell division cycle 34, ubiquitin conjugating enzyme	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305411	Cdc34	cell division cycle 34, ubiquitin conjugating enzyme	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305411	Cdc34	cell division cycle 34, ubiquitin conjugating enzyme	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305412	Rexo5	RNA exonuclease 5	gene	DOID:10534	stomach cancer		ISO	RGD:1601954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305412	Rexo5	RNA exonuclease 5	gene	DOID:1115	sarcoma		ISO	RGD:1601954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305412	Rexo5	RNA exonuclease 5	gene	DOID:1909	melanoma		ISO	RGD:1601954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305412	Rexo5	RNA exonuclease 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305412	Rexo5	RNA exonuclease 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1601954	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305412	Rexo5	RNA exonuclease 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305412	Rexo5	RNA exonuclease 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305412	Rexo5	RNA exonuclease 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1601954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305412	Rexo5	RNA exonuclease 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305412	Rexo5	RNA exonuclease 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305412	Rexo5	RNA exonuclease 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305412	Rexo5	RNA exonuclease 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305413	Mroh2b	maestro heat-like repeat family member 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305413	Mroh2b	maestro heat-like repeat family member 2B	gene	DOID:1115	sarcoma		ISO	RGD:1604530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305413	Mroh2b	maestro heat-like repeat family member 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604530	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305413	Mroh2b	maestro heat-like repeat family member 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305413	Mroh2b	maestro heat-like repeat family member 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305414	Uchl5	ubiquitin C-terminal hydrolase L5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305414	Uchl5	ubiquitin C-terminal hydrolase L5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305414	Uchl5	ubiquitin C-terminal hydrolase L5	gene	DOID:0070658	alcohol-associated liver disease		IEP		D	RGD:9480236|PMID:19609968	20141022	RGD		protein:decreased expression:liver, cytosolic proteasome complex	
1305414	Uchl5	ubiquitin C-terminal hydrolase L5	gene	DOID:1115	sarcoma		ISO	RGD:1313432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305414	Uchl5	ubiquitin C-terminal hydrolase L5	gene	DOID:1324	lung cancer		ISO	RGD:1313432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305414	Uchl5	ubiquitin C-terminal hydrolase L5	gene	DOID:4362	cervical cancer		ISO	RGD:1313432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305414	Uchl5	ubiquitin C-terminal hydrolase L5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305414	Uchl5	ubiquitin C-terminal hydrolase L5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305414	Uchl5	ubiquitin C-terminal hydrolase L5	gene	DOID:9001390	Testis Reperfusion Injury		IEP		D	RGD:9588240|PMID:24189580	20141022	RGD		mRNA, protein:decreased expression:testis	
1305414	Uchl5	ubiquitin C-terminal hydrolase L5	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:9588239|PMID:23500140	20141022	RGD			
1305414	Uchl5	ubiquitin C-terminal hydrolase L5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305415	Micall1	MICAL-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305415	Micall1	MICAL-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305415	Micall1	MICAL-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305415	Micall1	MICAL-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305415	Micall1	MICAL-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305415	Micall1	MICAL-like 1	gene	DOID:1909	melanoma		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305415	Micall1	MICAL-like 1	gene	DOID:3275	thymoma		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305415	Micall1	MICAL-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305415	Micall1	MICAL-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602200	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305415	Micall1	MICAL-like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305415	Micall1	MICAL-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305415	Micall1	MICAL-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305417	Atpaf1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305417	Atpaf1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313436	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305417	Atpaf1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305417	Atpaf1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305417	Atpaf1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305417	Atpaf1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305417	Atpaf1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305417	Atpaf1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:9970	obesity		ISO	RGD:1313436	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16199547|PMID:17847012|PMID:22569581|PMID:25741868|PMID:26083569|PMID:28492532
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050561	Lennox-Gastaut syndrome		ISO	RGD:1313439	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lennox-Gastaut syndrome	PMID:25741868|PMID:28492532
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0060058	lymphoma		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0060264	pontocerebellar hypoplasia		ISO	RGD:1313439	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia	PMID:20635367|PMID:22569581|PMID:25741868|PMID:26970947|PMID:27290639|PMID:28492532|PMID:31102535|PMID:32725632|PMID:33798445|PMID:33926074|PMID:39551846
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0060266	pontocerebellar hypoplasia type 1B		ISO	RGD:1313439	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia	PMID:20635367|PMID:22569581|PMID:25741868|PMID:26970947|PMID:27290639|PMID:28492532|PMID:31102535|PMID:32725632|PMID:33798445|PMID:33926074|PMID:39551846
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0060275	pontocerebellar hypoplasia type 6		ISO	RGD:1313439	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0060275	pontocerebellar hypoplasia type 6		ISO	RGD:1313439	D	RGD:7240710	20130221	OMIM			
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0060275	pontocerebellar hypoplasia type 6		ISO	RGD:1313439	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 6 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 6 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 6 | ClinVar Annotator: match by term: RARS2-related condition	PMID:10447505|PMID:16199547|PMID:17576681|PMID:17847012|PMID:18414213|PMID:20635367|PMID:20952379|PMID:22086604|PMID:22569581|PMID:2259581|PMID:24047924|PMID:24123792|PMID:24642831|PMID:25356970|PMID:25533962|PMID:25741868|PMID:25807530|PMID:25809939|PMID:25954003|PMID:26083569|PMID:26467025|PMID:26539891|PMID:26795593|PMID:26968897|PMID:26970947|PMID:2706168|PMID:27061686|PMID:27290639|PMID:27618451|PMID:27683254|PMID:28490743|PMID:28492532|PMID:29434700|PMID:29881806|PMID:30006346|PMID:30091983|PMID:30634555|PMID:30791064|PMID:30921410|PMID:31102535|PMID:31216405|PMID:31429931|PMID:31474318|PMID:31536827|PMID:31618753|PMID:31665838|PMID:31980526|PMID:32071833|PMID:32313153|PMID:32571458|PMID:32725632|PMID:32860008|PMID:33120460|PMID:33209735|PMID:33587123|PMID:33798445|PMID:33926074|PMID:33972171|PMID:34077496|PMID:34085948|PMID:34247374|PMID:34445196|PMID:34490615|PMID:34600502|PMID:34717047|PMID:34869784|PMID:35068129|PMID:35231114|PMID:35468344|PMID:35571021|PMID:35707589|PMID:37344844|PMID:37597066|PMID:38009286|PMID:38438854|PMID:38622473|PMID:38703036|PMID:38733322|PMID:39521787|PMID:39551846|PMID:9536098
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1313439	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:1059	intellectual disability		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual deficiency	PMID:25741868
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:1824	status epilepticus		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24047924|PMID:25741868|PMID:28492532|PMID:33209735
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:2394	ovarian cancer		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:3275	thymoma		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:5041	esophageal cancer		ISO	RGD:1313439	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1313439	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10447505|PMID:22569581|PMID:2259581|PMID:25741868|PMID:28492532|PMID:30006346|PMID:31102535|PMID:34077496
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305419	Rars2	arginyl-tRNA synthetase 2, mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1305420	Trmo	tRNA methyltransferase O	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305420	Trmo	tRNA methyltransferase O	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305420	Trmo	tRNA methyltransferase O	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305420	Trmo	tRNA methyltransferase O	gene	DOID:1324	lung cancer		ISO	RGD:1313441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305420	Trmo	tRNA methyltransferase O	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305420	Trmo	tRNA methyltransferase O	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:0050965	spinocerebellar ataxia 15		ISO	RGD:1353596	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16	PMID:25741868
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:0060058	lymphoma		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:0080057	autosomal recessive spinocerebellar ataxia 15		ISO	RGD:1353596	D	RGD:7240710	20151216	OMIM			
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:0080057	autosomal recessive spinocerebellar ataxia 15		ISO	RGD:1353596	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 | ClinVar Annotator: match by term: RUBCN-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15	PMID:25741868|PMID:28492532
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:1059	intellectual disability		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:1324	lung cancer		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:1909	melanoma		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:2394	ovarian cancer		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1353596	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1353596	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353596	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1305422	Rubcn	rubicon autophagy regulator	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1353596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1305423	Efcab3	EF-hand calcium binding domain 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1603895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305423	Efcab3	EF-hand calcium binding domain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305424	Tspan11	tetraspanin 11	gene	DOID:1115	sarcoma		ISO	RGD:1604416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305424	Tspan11	tetraspanin 11	gene	DOID:1324	lung cancer		ISO	RGD:1604416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305424	Tspan11	tetraspanin 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305424	Tspan11	tetraspanin 11	gene	DOID:4362	cervical cancer		ISO	RGD:1604416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305424	Tspan11	tetraspanin 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1604416	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305424	Tspan11	tetraspanin 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305424	Tspan11	tetraspanin 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305424	Tspan11	tetraspanin 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:10283	prostate cancer		ISO	RGD:1313452	D	RGD:9587761|PMID:24200674	20141016	RGD		mRNA:decreased expression:prostate gland (human)	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:10534	stomach cancer		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:1059	intellectual disability		ISO	RGD:1313452	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:1059	intellectual disability		ISO	RGD:1313452	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:33350388
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:1115	sarcoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:11383	cryptorchidism		IEP		D	RGD:9588526|PMID:24679876	20141030	RGD		mRNA:increased expression:testes (rat)	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:12849	autistic disorder		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:13620	patent foramen ovale		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:1612	breast cancer	severity	ISO	RGD:1313452	D	RGD:9586731|PMID:23266085	20141003	RGD		mRNA:decreased expression:breast (human)	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:1657	ventricular septal defect		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:1909	melanoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:3070	high grade glioma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1313452	D	RGD:9588530|PMID:25162518	20141030	RGD		protein:increased expression:lung (human)	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:5041	esophageal cancer		ISO	RGD:1313452	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:5517	stomach carcinoma		ISO	RGD:1313452	D	RGD:9588529|PMID:23794145	20141030	RGD		mRNA:increased expression:stomach (human)	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:7147	ankylosing spondylitis	susceptibility	ISO	RGD:1313452	D	RGD:9588532|PMID:24069348	20141030	RGD		DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human)	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:9006059	EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME		ISO	RGD:1313452	D	RGD:7240710	20240612	OMIM			
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:9006059	EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME		ISO	RGD:1313452	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: El Hayek-Chahrour neurodevelopmental disorder | ClinVar Annotator: match by term: KDM5A-related condition	PMID:16199547|PMID:25741868|PMID:28492532|PMID:33350388|PMID:3350388|PMID:39374907
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:9007817	Macroglossia		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305429	Kdm5a	lysine demethylase 5A	gene	DOID:986	alopecia areata		ISO	RGD:1313452	D	RGD:9587460|PMID:21936853	20141015	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	
1305430	Cdh18	cadherin 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305430	Cdh18	cadherin 18	gene	DOID:0111275	speech-language disorder-1		ISO	RGD:1313454	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Childhood apraxia of speech	
1305430	Cdh18	cadherin 18	gene	DOID:10534	stomach cancer		ISO	RGD:1313454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305430	Cdh18	cadherin 18	gene	DOID:1909	melanoma		ISO	RGD:1313454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305430	Cdh18	cadherin 18	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305430	Cdh18	cadherin 18	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305430	Cdh18	cadherin 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305431	Ubl3	ubiquitin-like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305431	Ubl3	ubiquitin-like 3	gene	DOID:1115	sarcoma		ISO	RGD:1313456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305431	Ubl3	ubiquitin-like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305432	Siglecf	sialic acid binding Ig-like lectin F	gene	DOID:10283	prostate cancer		ISO	RGD:1348004	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1305432	Siglecf	sialic acid binding Ig-like lectin F	gene	DOID:1324	lung cancer		ISO	RGD:1348004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305432	Siglecf	sialic acid binding Ig-like lectin F	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305432	Siglecf	sialic acid binding Ig-like lectin F	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1348004	D	RGD:11554173	20170411	CTD		CTD Direct Evidence: marker/mechanism	PMID:26808113
1305433	Gramd1c	GRAM domain containing 1C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305433	Gramd1c	GRAM domain containing 1C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305433	Gramd1c	GRAM domain containing 1C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305433	Gramd1c	GRAM domain containing 1C	gene	DOID:1115	sarcoma		ISO	RGD:1606791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305433	Gramd1c	GRAM domain containing 1C	gene	DOID:1324	lung cancer		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1305433	Gramd1c	GRAM domain containing 1C	gene	DOID:1909	melanoma		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305433	Gramd1c	GRAM domain containing 1C	gene	DOID:3275	thymoma		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305433	Gramd1c	GRAM domain containing 1C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305433	Gramd1c	GRAM domain containing 1C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305433	Gramd1c	GRAM domain containing 1C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305434	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:0080600	COVID-19		ISO	RGD:1603703	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305434	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:1324	lung cancer		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305434	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:1909	melanoma		ISO	RGD:1603703	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1305434	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:1909	melanoma		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305434	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305434	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603703	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305434	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1305434	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305434	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603703	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1305434	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305434	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1305434	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1305434	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305434	Pkmyt1	protein kinase, membrane associated tyrosine/threonine 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:0080840	optic atrophy 12		ISO	RGD:1343762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy 12	PMID:25741868
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:0112221	developmental and epileptic encephalopathy 87		ISO	RGD:1343762	D	RGD:7240710	20200701	OMIM			
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:0112221	developmental and epileptic encephalopathy 87		ISO	RGD:1343762	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 87	PMID:25741868|PMID:32330417|PMID:33495529
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:10907	microcephaly		ISO	RGD:1343762	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:1115	sarcoma		ISO	RGD:1343762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:1909	melanoma		ISO	RGD:1343762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:3070	high grade glioma		ISO	RGD:1343762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:4362	cervical cancer		ISO	RGD:1343762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:630	genetic disease		ISO	RGD:1343762	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:2316019|PMID:18008145	20141121	RGD		mRNA, protein:increased expression:spinal cord	
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343762	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1343762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: speech delay	PMID:25741868
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305435	Cdk19	cyclin-dependent kinase 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1313466	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868|PMID:28492532
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:0070181	spermatogenic failure 23		ISO	RGD:1313466	D	RGD:7240710	20190315	OMIM			
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:0070181	spermatogenic failure 23		ISO	RGD:1313466	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 23 | ClinVar Annotator: match by term: Spermatogenic failure 23 | ClinVar Annotator: match by term: TEX14-related condition	PMID:25741868|PMID:28492532
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1313466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:10283	prostate cancer		ISO	RGD:1313466	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:10283	prostate cancer		ISO	RGD:1313466	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:1115	sarcoma		ISO	RGD:1313466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:3275	thymoma		ISO	RGD:1313466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:4362	cervical cancer		ISO	RGD:1313466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1313466	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313466	D	RGD:8554872	20190409	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3	
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313466	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3	PMID:25741868|PMID:38922859
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305437	Tex14	testis expressed 14, intercellular bridge forming factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305438	Cdh20	cadherin 20	gene	DOID:10534	stomach cancer		ISO	RGD:1313468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305438	Cdh20	cadherin 20	gene	DOID:1115	sarcoma		ISO	RGD:1313468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305438	Cdh20	cadherin 20	gene	DOID:11193	syndactyly		ISO	RGD:1313468	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:25741868
1305438	Cdh20	cadherin 20	gene	DOID:1324	lung cancer		ISO	RGD:1313468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305438	Cdh20	cadherin 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305439	Best3	bestrophin 3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1313470	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1305439	Best3	bestrophin 3	gene	DOID:0080685	aortic dissection		ISS	RGD:1550212	D	RGD:13592920	20231019	MouseDO			
1305439	Best3	bestrophin 3	gene	DOID:1115	sarcoma		ISO	RGD:1313470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305439	Best3	bestrophin 3	gene	DOID:1324	lung cancer		ISO	RGD:1313470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1305439	Best3	bestrophin 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305439	Best3	bestrophin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305441	Cpsf7	cleavage and polyadenylation specific factor 7	gene	DOID:10283	prostate cancer		ISO	RGD:1602680	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305441	Cpsf7	cleavage and polyadenylation specific factor 7	gene	DOID:10283	prostate cancer		ISO	RGD:1602680	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305441	Cpsf7	cleavage and polyadenylation specific factor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305441	Cpsf7	cleavage and polyadenylation specific factor 7	gene	DOID:1115	sarcoma		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305441	Cpsf7	cleavage and polyadenylation specific factor 7	gene	DOID:1324	lung cancer		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305441	Cpsf7	cleavage and polyadenylation specific factor 7	gene	DOID:1909	melanoma		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305441	Cpsf7	cleavage and polyadenylation specific factor 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305441	Cpsf7	cleavage and polyadenylation specific factor 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305441	Cpsf7	cleavage and polyadenylation specific factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305441	Cpsf7	cleavage and polyadenylation specific factor 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305442	Tm2d1	TM2 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305442	Tm2d1	TM2 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1602315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305442	Tm2d1	TM2 domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1602315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305442	Tm2d1	TM2 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602315	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305442	Tm2d1	TM2 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305442	Tm2d1	TM2 domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305442	Tm2d1	TM2 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305443	Gramd1b	GRAM domain containing 1B	gene	DOID:1059	intellectual disability		ISO	RGD:1606522	D	RGD:8554872	20210309	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	PMID:30167849
1305443	Gramd1b	GRAM domain containing 1B	gene	DOID:1059	intellectual disability		ISO	RGD:1606522	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	
1305443	Gramd1b	GRAM domain containing 1B	gene	DOID:1324	lung cancer		ISO	RGD:1606522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305443	Gramd1b	GRAM domain containing 1B	gene	DOID:1909	melanoma		ISO	RGD:1606522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305443	Gramd1b	GRAM domain containing 1B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305443	Gramd1b	GRAM domain containing 1B	gene	DOID:3275	thymoma		ISO	RGD:1606522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305443	Gramd1b	GRAM domain containing 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305443	Gramd1b	GRAM domain containing 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305443	Gramd1b	GRAM domain containing 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305444	Prrg2	proline rich and Gla domain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305444	Prrg2	proline rich and Gla domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305444	Prrg2	proline rich and Gla domain 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305444	Prrg2	proline rich and Gla domain 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305444	Prrg2	proline rich and Gla domain 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1305444	Prrg2	proline rich and Gla domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305444	Prrg2	proline rich and Gla domain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305444	Prrg2	proline rich and Gla domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305445	Ltf	lactotransferrin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305445	Ltf	lactotransferrin	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1313477	D	RGD:7243943|PMID:9791051	20130521	RGD			
1305445	Ltf	lactotransferrin	gene	DOID:10534	stomach cancer		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305445	Ltf	lactotransferrin	gene	DOID:10763	hypertension		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:24587916
1305445	Ltf	lactotransferrin	gene	DOID:1115	sarcoma		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305445	Ltf	lactotransferrin	gene	DOID:11476	osteoporosis		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16648989|PMID:16936800
1305445	Ltf	lactotransferrin	gene	DOID:1324	lung cancer		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305445	Ltf	lactotransferrin	gene	DOID:13250	diarrhea		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
1305445	Ltf	lactotransferrin	gene	DOID:13689	prostate calculus		ISO	RGD:1313477	D	RGD:7243107|PMID:19202053	20130502	RGD			
1305445	Ltf	lactotransferrin	gene	DOID:14262	oral candidiasis		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
1305445	Ltf	lactotransferrin	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
1305445	Ltf	lactotransferrin	gene	DOID:1508	candidiasis		ISO	RGD:1313477	D	RGD:7243948|PMID:17922408	20130521	RGD			
1305445	Ltf	lactotransferrin	gene	DOID:2272	vulvovaginal candidiasis		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
1305445	Ltf	lactotransferrin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305445	Ltf	lactotransferrin	gene	DOID:289	endometriosis		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
1305445	Ltf	lactotransferrin	gene	DOID:381	arthropathy		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
1305445	Ltf	lactotransferrin	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1313477	D	RGD:7243860|PMID:21532506	20130517	RGD			
1305445	Ltf	lactotransferrin	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1313477	D	RGD:7243106|PMID:23201854	20130502	RGD			
1305445	Ltf	lactotransferrin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305445	Ltf	lactotransferrin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305445	Ltf	lactotransferrin	gene	DOID:65	connective tissue disease		ISO	RGD:1313477	D	RGD:7243945|PMID:8296641	20130521	RGD			
1305445	Ltf	lactotransferrin	gene	DOID:8577	ulcerative colitis		ISO	RGD:1313477	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16640825|PMID:35999755
1305445	Ltf	lactotransferrin	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
1305445	Ltf	lactotransferrin	gene	DOID:9000310	Lung Injury		ISO	RGD:1313477	D	RGD:7243109|PMID:16905637	20130502	RGD			
1305445	Ltf	lactotransferrin	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
1305445	Ltf	lactotransferrin	gene	DOID:9001981	Weight Loss		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:24587916
1305445	Ltf	lactotransferrin	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:12079509
1305445	Ltf	lactotransferrin	gene	DOID:9003507	Premature Birth		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
1305445	Ltf	lactotransferrin	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis		ISO	RGD:1313477	D	RGD:7243106|PMID:23201854	20130502	RGD			
1305445	Ltf	lactotransferrin	gene	DOID:9004484	Sepsis		ISO	RGD:1313477	D	RGD:7243861|PMID:23425819	20130517	RGD			
1305445	Ltf	lactotransferrin	gene	DOID:9004786	Carbon Tetrachloride Poisoning		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16141546
1305445	Ltf	lactotransferrin	gene	DOID:9005372	Inflammation		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16141546
1305445	Ltf	lactotransferrin	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305445	Ltf	lactotransferrin	gene	DOID:9006024	Hypotension		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563657
1305445	Ltf	lactotransferrin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305445	Ltf	lactotransferrin	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1313477	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: therapeutic	PMID:12079509
1305445	Ltf	lactotransferrin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16141546
1305445	Ltf	lactotransferrin	gene	DOID:9008261	Chemically-Induced Disorders		ISO	RGD:1313477	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35999755
1305445	Ltf	lactotransferrin	gene	DOID:9008821	Otitis Media with Effusion	treatment	ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:21079169|REF_RGD_ID:11554025
1305445	Ltf	lactotransferrin	gene	DOID:9008885	Staphylococcal Infections		ISO	RGD:1313477	D	RGD:7243953|PMID:10030017	20130521	RGD			
1305445	Ltf	lactotransferrin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305445	Ltf	lactotransferrin	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1313477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:15651117
1305445	Ltf	lactotransferrin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:0050856	oppositional defiant disorder		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oppositional defiant disorder	PMID:25741868
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:0060046	aphasia		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aphasia	PMID:25741868
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:0060058	lymphoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:0060260	ptosis		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:0112166	autosomal dominant nonsyndromic deafness 75		ISO	RGD:1313479	D	RGD:7240710	20200226	OMIM			
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:0112166	autosomal dominant nonsyndromic deafness 75		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 75	PMID:25741868
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:10283	prostate cancer		ISO	RGD:1313479	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:10283	prostate cancer		ISO	RGD:1313479	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:1059	intellectual disability		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28492532
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:10892	hypospadias		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:10907	microcephaly		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:11252	microcytic anemia		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:25741868
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:12849	autistic disorder		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:14219	renal tubular acidosis		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal tubular acidosis	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:1826	epilepsy		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:30827496
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:1829	urethral stricture		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urethral stenosis	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:1909	melanoma		ISO	RGD:1313479	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21499247
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:1909	melanoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:2030	anxiety disorder		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:3275	thymoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:3307	teratoma		ISO	RGD:1313479	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Teratoma	PMID:25741868
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:423	myopathy		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:4428	dyslexia		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:4667	kyphosis		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1313479	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:5419	schizophrenia		ISO	RGD:1313479	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266|PMID:23042115
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:630	genetic disease		ISO	RGD:1313479	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30827496
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:6364	migraine		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:8927	learning disability		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:30827496
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9000343	Vision Disorders		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:28492532
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9003507	Premature Birth		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	PMID:25741868
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313479	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: complex neurodevelopmental disorder with or without congenital anomalies	PMID:25741868|PMID:28492532
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9004552	Genu Varum		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu varum	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9005077	Joint Instability		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9006617	Fatigue		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868|PMID:28492532
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9007402	Gliosis		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25741898|PMID:28492532
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:28492532
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9008582	Developmental Disease		ISO	RGD:1313479	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868|PMID:28492532
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9009182	Developmental Delay with or without Dysmorphic Facies and Autism		ISO	RGD:1313479	D	RGD:7240710	20190911	OMIM			
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9009182	Developmental Delay with or without Dysmorphic Facies and Autism		ISO	RGD:1313479	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism | ClinVar Annotator: match by term: TRRAP-Related Disorder | ClinVar Annotator: match by term: TRRAP-related condition | ClinVar Annotator: match by term: TRRAP-related neurodevelopmental disorder | ClinVar Annotator: match by term: developmental delay with or without dysmorphic facies and autism	PMID:17576681|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30424743|PMID:30827496|PMID:9536098
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305446	Trrap	transformation/transcription domain-associated protein	gene	DOID:9840	esotropia		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:0070157	hereditary sensory and autonomic neuropathy type 1C		ISO	RGD:1354205	D	RGD:7240710	20130221	OMIM			
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:0070157	hereditary sensory and autonomic neuropathy type 1C		ISO	RGD:1354205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HSN IC | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C	PMID:16199547|PMID:17576681|PMID:20920666|PMID:23658386|PMID:24175284|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26573920|PMID:26681808|PMID:27549087|PMID:28492532|PMID:29042446|PMID:30373780|PMID:30955194|PMID:31692161|PMID:31701603|PMID:35837722|PMID:36966328|PMID:38041679|PMID:9536098
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:0080600	COVID-19		ISO	RGD:1354205	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1354205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:11830	myopia		ISO	RGD:1354205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:26467025|PMID:26573920|PMID:28492532|PMID:29042446|PMID:30373780|PMID:31701603
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:1247	blood coagulation disease		ISO	RGD:1354205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:28492532
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1354205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1354205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1354205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354205	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1354205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:26573920|PMID:28492532|PMID:29042446|PMID:30373780|PMID:31701603
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:8893	psoriasis		ISS	RGD:1614415	D	RGD:13592920	20180518	MouseDO		OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106	
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1354205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:26467025|PMID:26573920|PMID:28492532|PMID:29042446|PMID:30373780|PMID:31701603
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305447	Sptlc2	serine palmitoyltransferase, long chain base subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305448	Trim11	tripartite motif-containing 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305448	Trim11	tripartite motif-containing 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305448	Trim11	tripartite motif-containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305448	Trim11	tripartite motif-containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305448	Trim11	tripartite motif-containing 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305448	Trim11	tripartite motif-containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305452	Cct8	chaperonin containing TCP1 subunit 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305452	Cct8	chaperonin containing TCP1 subunit 8	gene	DOID:0080600	COVID-19		ISO	RGD:1313488	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305452	Cct8	chaperonin containing TCP1 subunit 8	gene	DOID:10534	stomach cancer		ISO	RGD:1313488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305452	Cct8	chaperonin containing TCP1 subunit 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305452	Cct8	chaperonin containing TCP1 subunit 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1313488	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305452	Cct8	chaperonin containing TCP1 subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305452	Cct8	chaperonin containing TCP1 subunit 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305452	Cct8	chaperonin containing TCP1 subunit 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305453	Mtfr1l	mitochondrial fission regulator 1-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305453	Mtfr1l	mitochondrial fission regulator 1-like	gene	DOID:1909	melanoma		ISO	RGD:1606533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305453	Mtfr1l	mitochondrial fission regulator 1-like	gene	DOID:4362	cervical cancer		ISO	RGD:1606533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305453	Mtfr1l	mitochondrial fission regulator 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305453	Mtfr1l	mitochondrial fission regulator 1-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305454	Psmg1	proteasome assembly chaperone 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305454	Psmg1	proteasome assembly chaperone 1	gene	DOID:1324	lung cancer		ISO	RGD:1313491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305454	Psmg1	proteasome assembly chaperone 1	gene	DOID:3275	thymoma		ISO	RGD:1313491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305454	Psmg1	proteasome assembly chaperone 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305454	Psmg1	proteasome assembly chaperone 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305454	Psmg1	proteasome assembly chaperone 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305454	Psmg1	proteasome assembly chaperone 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:1313491	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799
1305454	Psmg1	proteasome assembly chaperone 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305455	Trappc14	trafficking protein particle complex subunit 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305455	Trappc14	trafficking protein particle complex subunit 14	gene	DOID:0051036	primary autosomal recessive microcephaly 25		ISO	RGD:1605367	D	RGD:7240710	20190315	OMIM			
1305455	Trappc14	trafficking protein particle complex subunit 14	gene	DOID:0051036	primary autosomal recessive microcephaly 25		ISO	RGD:1605367	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly 25, primary, autosomal recessive | ClinVar Annotator: match by term: TRAPPC14-related condition	PMID:25741868
1305455	Trappc14	trafficking protein particle complex subunit 14	gene	DOID:10534	stomach cancer		ISO	RGD:1605367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305455	Trappc14	trafficking protein particle complex subunit 14	gene	DOID:1115	sarcoma		ISO	RGD:1605367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305455	Trappc14	trafficking protein particle complex subunit 14	gene	DOID:3275	thymoma		ISO	RGD:1605367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305455	Trappc14	trafficking protein particle complex subunit 14	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305455	Trappc14	trafficking protein particle complex subunit 14	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305455	Trappc14	trafficking protein particle complex subunit 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305455	Trappc14	trafficking protein particle complex subunit 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305455	Trappc14	trafficking protein particle complex subunit 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305456	Tfcp2l1	transcription factor CP2-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305456	Tfcp2l1	transcription factor CP2-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1313494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305456	Tfcp2l1	transcription factor CP2-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305456	Tfcp2l1	transcription factor CP2-like 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1313494	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:33097957
1305456	Tfcp2l1	transcription factor CP2-like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305456	Tfcp2l1	transcription factor CP2-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305456	Tfcp2l1	transcription factor CP2-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305457	Ikbip	IKBKB interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1605589	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305457	Ikbip	IKBKB interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1605589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305457	Ikbip	IKBKB interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1605589	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305457	Ikbip	IKBKB interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1605589	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305457	Ikbip	IKBKB interacting protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605589	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305457	Ikbip	IKBKB interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:0111243	acromicric dysplasia		ISO	RGD:1343515	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:0111243	acromicric dysplasia		ISO	RGD:1343515	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Geleophysic dwarfism	PMID:24014090|PMID:25741868|PMID:26879370|PMID:33369194|PMID:36474027
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:0111725	geleophysic dysplasia 1		ISO	RGD:1343515	D	RGD:7240710	20130221	OMIM			
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:0111725	geleophysic dysplasia 1		ISO	RGD:1343515	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ADAMTSL2-related condition | ClinVar Annotator: match by term: GELEOPHYSIC DYSPLASIA 1 | ClinVar Annotator: match by term: Geleophysic dysplasia 1 | ClinVar Annotator: match by term: geleophysic dysplasia 1	PMID:18677313|PMID:20301776|PMID:21415077|PMID:25741868|PMID:26879370|PMID:33369194|PMID:35903967|PMID:36474027|PMID:38300707
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:0111725	geleophysic dysplasia 1		ISS	RGD:1550215	D	RGD:13592920	20230718	MouseDO		OMIM:231050	
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:1875	impotence		ISS	RGD:1550215	D	RGD:13592920	20240801	MouseDO			
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1343515	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1343515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:3627	aortic aneurysm		ISO	RGD:1343515	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:25741868|PMID:26879370|PMID:33369194|PMID:35903967
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:4079	heart valve disease		ISO	RGD:1343515	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:630	genetic disease		ISO	RGD:1343515	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1343515	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:9001487	Facies		ISO	RGD:1343515	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:9003299	Short Limb Dwarfism Al Gazali Type		ISO	RGD:1343515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethal short-limb skeletal dysplasia, Al Gazali type	PMID:25741868
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:9004585	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES		ISO	RGD:12117271	D	RGD:9068941	20260702	OMIA		Geleophysic dysplasia, ADMATSL2-related	PMID:20862248|PMID:28158899|PMID:34861369|PMID:42324135
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:9004795	Congenital Hand Deformities		ISO	RGD:1343515	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1343515	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:9006257	Growth Disorders		ISO	RGD:1343515	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
1305459	Adamtsl2	ADAMTS-like 2	gene	DOID:9006836	Contracture		ISO	RGD:1343515	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1313498	D	RGD:1599171|PMID:12021784	20070118	RGD			
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:10534	stomach cancer		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:1059	intellectual disability		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28343630|PMID:28492532
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:1115	sarcoma		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:11383	cryptorchidism		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:25741868
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:11782	astigmatism		ISO	RGD:1313498	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:1612	breast cancer		ISO	RGD:1313498	D	RGD:7240710	20180711	OMIM			
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:2030	anxiety disorder		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:2394	ovarian cancer		ISO	RGD:1313498	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:3070	high grade glioma		ISO	RGD:1313498	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24880341
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:3070	high grade glioma		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:540	strabismus		ISO	RGD:1313498	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:630	genetic disease		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27479843|PMID:28135719|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:36413997|PMID:37183572
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:25741868
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9002777	Brain Stem Neoplasms		ISO	RGD:1313498	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24880341
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9003126	Hallucinations		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:25741868
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313498	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9004839	INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD		ISO	RGD:1313498	D	RGD:7240710	20190315	OMIM			
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9004839	INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD		ISO	RGD:1313498	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | ClinVar Annotator: match by term: JANSEN-DE VRIES SYNDROME | ClinVar Annotator: match by term: PPM1D-related condition	PMID:17932621|PMID:23649806|PMID:23907125|PMID:24262437|PMID:24880341|PMID:25741868|PMID:27713908|PMID:27993330|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:29758292|PMID:29758562|PMID:30216591|PMID:30388424|PMID:30795918|PMID:30850729|PMID:31916397|PMID:33057194|PMID:33528536|PMID:34312540|PMID:35982159|PMID:37183572|PMID:37709843
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9005077	Joint Instability		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313498	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25741868
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9007573	Flatfoot		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313498	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9008675	Dyskinesias		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313498	D	RGD:11554173	20180717	CTD		CTD Direct Evidence: marker/mechanism	
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313498	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:23907125|PMID:24262437|PMID:25741868|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:30216591|PMID:30388424
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313498	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:23907125|PMID:24262437|PMID:25741868|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:30216591|PMID:30388424|PMID:37378944
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1313498	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9834	hyperopia		ISO	RGD:1313498	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572
1305460	Ppm1d	protein phosphatase, Mg2+/Mn2+ dependent, 1D	gene	DOID:9970	obesity		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:0050938	breast lobular carcinoma		ISO	RGD:1313500	D	RGD:11554173	20201012	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:0060412	chromosome 1q41-q42 deletion syndrome		ISS	RGD:1313501	D	RGD:13592920	20180809	MouseDO		OMIM:612530	
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:1115	sarcoma		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:1324	lung cancer		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:1909	melanoma		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313500	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1313500	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313500	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305461	Tp53bp2	tumor protein p53 binding protein, 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:0070542	neurodevelopmental disorder with spastic paraplegia and microcephaly		ISO	RGD:1313502	D	RGD:7240710	20170510	OMIM			
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:0070542	neurodevelopmental disorder with spastic paraplegia and microcephaly		ISO	RGD:1313502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GPT2-related condition | ClinVar Annotator: match by term: GPT2-related neurodevelopmental disorder | ClinVar Annotator: match by term: Glutamate pyruvate transaminase 2 deficiency | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and spastic paraplegia	PMID:24901346|PMID:25741868|PMID:25758935|PMID:27601654|PMID:28374019|PMID:32214227
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1313502	D	RGD:14975251|PMID:22922605	20191003	RGD		protein:increased activity:plasma	
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1313503	D	RGD:14975250|PMID:18710424	20191003	RGD		protein:increased expression:liver,serum	
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:1115	sarcoma		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:1324	lung cancer		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:1909	melanoma		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:3275	thymoma		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:3571	liver cancer	treatment	ISO	RGD:1313502	D	RGD:14975251|PMID:22922605	20191003	RGD			
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313502	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:630	genetic disease		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1313502	D	RGD:14975251|PMID:22922605	20191003	RGD		protein:increased activity:plasma	
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental Disorder	
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		IEP		D	RGD:14975249|PMID:19085960	20191003	RGD		protein:increased expression, activity:serum:	
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1313503	D	RGD:14975249|PMID:19085960	20191003	RGD		protein:increased expression, activity:serum:	
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1313502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:9352	type 2 diabetes mellitus		IEP		D	RGD:11342811|PMID:25865565	20191003	RGD		protein:increased expression, activity:liver:	
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:1313503	D	RGD:14975241|PMID:15122758	20191002	RGD		mRNA:increased expression:liver	
1305462	Gpt2	glutamic--pyruvic transaminase 2	gene	DOID:9970	obesity		ISO	RGD:1313503	D	RGD:11342811|PMID:25865565	20191003	RGD		protein:increased expression, activity:liver:	
1305463	Map4k1	mitogen activated protein kinase kinase kinase kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305463	Map4k1	mitogen activated protein kinase kinase kinase kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305463	Map4k1	mitogen activated protein kinase kinase kinase kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305463	Map4k1	mitogen activated protein kinase kinase kinase kinase 1	gene	DOID:224	transient cerebral ischemia	treatment	IDA		D	RGD:7495845|PMID:18498770	20131217	RGD			
1305463	Map4k1	mitogen activated protein kinase kinase kinase kinase 1	gene	DOID:224	transient cerebral ischemia	treatment	IDA		D	RGD:7495847|PMID:18382279	20131217	RGD			
1305463	Map4k1	mitogen activated protein kinase kinase kinase kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305463	Map4k1	mitogen activated protein kinase kinase kinase kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305463	Map4k1	mitogen activated protein kinase kinase kinase kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305463	Map4k1	mitogen activated protein kinase kinase kinase kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305463	Map4k1	mitogen activated protein kinase kinase kinase kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305463	Map4k1	mitogen activated protein kinase kinase kinase kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305464	Prmt2ip	PRMT2 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305464	Prmt2ip	PRMT2 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:1604333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305464	Prmt2ip	PRMT2 interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305464	Prmt2ip	PRMT2 interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305464	Prmt2ip	PRMT2 interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1604333	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305464	Prmt2ip	PRMT2 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305464	Prmt2ip	PRMT2 interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305465	Fbxo10	F-box protein 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305465	Fbxo10	F-box protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305465	Fbxo10	F-box protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305465	Fbxo10	F-box protein 10	gene	DOID:1324	lung cancer		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305465	Fbxo10	F-box protein 10	gene	DOID:1909	melanoma		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305465	Fbxo10	F-box protein 10	gene	DOID:2394	ovarian cancer		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305465	Fbxo10	F-box protein 10	gene	DOID:3070	high grade glioma		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305465	Fbxo10	F-box protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1313507	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305465	Fbxo10	F-box protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305465	Fbxo10	F-box protein 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305465	Fbxo10	F-box protein 10	gene	DOID:9005233	Experimental Mammary Neoplasms		IEP		D	RGD:1601189|PMID:17404222	20090216	RGD			
1305465	Fbxo10	F-box protein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305465	Fbxo10	F-box protein 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1313507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305466	Lonp2	lon peptidase 2, peroxisomal	gene	DOID:10283	prostate cancer		ISO	RGD:1605609	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305466	Lonp2	lon peptidase 2, peroxisomal	gene	DOID:10283	prostate cancer		ISO	RGD:1605609	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:0051061	stroke		ISO	RGD:1313510	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:0060673	Peters anomaly		ISO	RGD:1313510	D	RGD:8554872	20170221	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:26893459
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:0110381	retinitis pigmentosa 14		ISO	RGD:1313510	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 14	
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:0110403	retinitis pigmentosa 13		ISO	RGD:1313510	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:0110403	retinitis pigmentosa 13		ISO	RGD:1313510	D	RGD:7240710	20130425	OMIM			
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:0110403	retinitis pigmentosa 13		ISO	RGD:1313510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PRPF8-related condition | ClinVar Annotator: match by term: PRPF8-related disorder | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 13	PMID:11468273|PMID:11910553|PMID:12714658|PMID:16799052|PMID:17061239|PMID:18695108|PMID:22277662|PMID:23950152|PMID:25741868|PMID:28492532|PMID:28515276|PMID:33691693|PMID:35543142|PMID:36819107|PMID:37734845
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:0110403	retinitis pigmentosa 13		ISS	RGD:1313511	D	RGD:13592920	20230718	MouseDO		OMIM:600059	
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:10534	stomach cancer		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313510	D	RGD:1599210|PMID:11468273	20070119	RGD			
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313510	D	RGD:8547535|PMID:23701314	20140217	RGD			
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313510	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:30718709|PMID:31725702|PMID:9536098
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313510	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:30718709|PMID:31725702|PMID:32531858|PMID:34906470|PMID:36909829|PMID:9536098
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313510	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:29847639|PMID:30718709|PMID:31213501|PMID:31456290|PMID:31725702|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33494148|PMID:33712029|PMID:33749171|PMID:34716235|PMID:34758253|PMID:34906470|PMID:35138024|PMID:36909829|PMID:9536098
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:29847639|PMID:30718709|PMID:31213501|PMID:31725702|PMID:32581362|PMID:33090715|PMID:34758253|PMID:34906470|PMID:36909829|PMID:9536098
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:1909	melanoma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:3070	high grade glioma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:3275	thymoma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:4362	cervical cancer		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1313510	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:5679	retinal disease		ISO	RGD:1313510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:11468273|PMID:12714658|PMID:16799052|PMID:20232351|PMID:25741868|PMID:28492532|PMID:28515276|PMID:30360737
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:630	genetic disease		ISO	RGD:1313510	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Disorder | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19344873|PMID:27535533|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28798898|PMID:33157387|PMID:33598457|PMID:33781268|PMID:34321860
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:630	genetic disease		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19344873|PMID:27535533|PMID:28492532
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11468273|PMID:16799052|PMID:17061239|PMID:18695108|PMID:20232351|PMID:21378395|PMID:23950152|PMID:24938718|PMID:25741868|PMID:28076437|PMID:28492532|PMID:28515276|PMID:28559085|PMID:28707069|PMID:28761320|PMID:28798898|PMID:30029497|PMID:31087526|PMID:32531858|PMID:33157387|PMID:33576794|PMID:33598457|PMID:33781268|PMID:34321860|PMID:34906470|PMID:3646071|PMID:36819107
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:9002569	Overweight		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313510	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:22039234|PMID:25741868|PMID:29087248|PMID:35543142
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:9008582	Developmental Disease		ISO	RGD:1313510	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1305467	Prpf8	pre-mRNA processing factor 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cystic disease of liver	PMID:19862844|PMID:25741868|PMID:28492532|PMID:35778421|PMID:39899384
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313512	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:0060976	polycystic liver disease 3		ISO	RGD:1313512	D	RGD:7240710	20190315	OMIM			
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:0060976	polycystic liver disease 3		ISO	RGD:1313512	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 3 with or without kidney cysts	PMID:16199547|PMID:17576681|PMID:19648040|PMID:19862844|PMID:25741868|PMID:26066342|PMID:28375157|PMID:28492532|PMID:35778421|PMID:36574950|PMID:37628703|PMID:38012624|PMID:39899384|PMID:9536098
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:0080560	congenital disorder of glycosylation Ih		ISO	RGD:1313512	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:0080560	congenital disorder of glycosylation Ih		ISO	RGD:1313512	D	RGD:7240710	20130221	OMIM			
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:0080560	congenital disorder of glycosylation Ih		ISO	RGD:1313512	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: CDG Ih | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih	PMID:12480927|PMID:15235028|PMID:16199547|PMID:17576681|PMID:19648040|PMID:19688606|PMID:19862844|PMID:23806237|PMID:25428507|PMID:25640679|PMID:25741868|PMID:26066342|PMID:26653770|PMID:28106320|PMID:28375157|PMID:28492532|PMID:28940310|PMID:35211808|PMID:35716054|PMID:35778421|PMID:36574950|PMID:37628703|PMID:9536098
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:0080560	congenital disorder of glycosylation Ih		ISO	RGD:1313512	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALG8-related disorder | ClinVar Annotator: match by term: CDG Ih | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H	PMID:16199547|PMID:19862844|PMID:23806237|PMID:25741868|PMID:26066342|PMID:28375157|PMID:28492532|PMID:28820871|PMID:28940310|PMID:35778421|PMID:36574950|PMID:38012624|PMID:39899384
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:10907	microcephaly		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:23806237|PMID:28492532|PMID:28940310
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1313512	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:1459	hypothyroidism		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:23806237|PMID:28492532|PMID:28940310
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:1682	congenital heart disease		ISO	RGD:1313512	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:19862844|PMID:25741868|PMID:26066342|PMID:28375157|PMID:28492532|PMID:36574950|PMID:39899384
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:2975	cystic kidney disease		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic renal disease | ClinVar Annotator: match by term: Familial cystic renal disease	PMID:19688606|PMID:19862844|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532|PMID:36574950|PMID:37628703|PMID:39899384
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1313512	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313512	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1313512	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313512	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:26066342|PMID:28375157|PMID:28492532|PMID:35778421|PMID:9536098
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:784	chronic kidney disease		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: chronic kidney disease	PMID:25741868|PMID:28492532
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:8488	polyhydramnios		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:23806237|PMID:28492532|PMID:28940310
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:23806237|PMID:28492532|PMID:28940310
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:9000781	Cyanosis		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cyanosis	PMID:23806237|PMID:28492532|PMID:28940310
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:9000892	Fetal Distress		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal distress	PMID:23806237|PMID:28492532|PMID:28940310
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:9003133	Hypertelorism		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:23806237|PMID:28492532|PMID:28940310
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:9004992	Apnea		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:23806237|PMID:28492532|PMID:28940310
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:23806237|PMID:25741868|PMID:28492532|PMID:28940310
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:9005616	Micrognathism		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:23806237|PMID:28492532|PMID:28940310
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:9007817	Macroglossia		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:23806237|PMID:28492532|PMID:28940310
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:9008539	Perinatal Death		ISO	RGD:1313512	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal death	PMID:19862844|PMID:25741868|PMID:26066342|PMID:28375157|PMID:28492532|PMID:36574950|PMID:39899384
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313512	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1305468	Alg8	ALG8, alpha-1,3-glucosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313512	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1305469	Prr14l	proline rich 14-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305469	Prr14l	proline rich 14-like	gene	DOID:10534	stomach cancer		ISO	RGD:1604500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305469	Prr14l	proline rich 14-like	gene	DOID:3275	thymoma		ISO	RGD:1604500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305469	Prr14l	proline rich 14-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1604500	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305469	Prr14l	proline rich 14-like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305469	Prr14l	proline rich 14-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305469	Prr14l	proline rich 14-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305469	Prr14l	proline rich 14-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305470	Rnf19b	ring finger protein 19B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305470	Rnf19b	ring finger protein 19B	gene	DOID:0080600	COVID-19		ISO	RGD:1313515	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1305470	Rnf19b	ring finger protein 19B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305470	Rnf19b	ring finger protein 19B	gene	DOID:1909	melanoma		ISO	RGD:1313515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305470	Rnf19b	ring finger protein 19B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305470	Rnf19b	ring finger protein 19B	gene	DOID:3070	high grade glioma		ISO	RGD:1313515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305470	Rnf19b	ring finger protein 19B	gene	DOID:3275	thymoma		ISO	RGD:1313515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305470	Rnf19b	ring finger protein 19B	gene	DOID:5041	esophageal cancer		ISO	RGD:1313515	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305470	Rnf19b	ring finger protein 19B	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1313515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1305470	Rnf19b	ring finger protein 19B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305470	Rnf19b	ring finger protein 19B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305470	Rnf19b	ring finger protein 19B	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1313515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1305470	Rnf19b	ring finger protein 19B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305470	Rnf19b	ring finger protein 19B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305471	Atf6	activating transcription factor 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305471	Atf6	activating transcription factor 6	gene	DOID:0110009	achromatopsia 7		ISO	RGD:1313517	D	RGD:7240710	20170215	OMIM			
1305471	Atf6	activating transcription factor 6	gene	DOID:0110009	achromatopsia 7		ISO	RGD:1313517	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACHROMATOPSIA 7 | ClinVar Annotator: match by term: ATF6-related condition | ClinVar Annotator: match by term: Achromatopsia 7	PMID:25741868|PMID:26029869|PMID:26063662|PMID:26070061|PMID:28028229|PMID:28492532|PMID:31237654
1305471	Atf6	activating transcription factor 6	gene	DOID:0110009	achromatopsia 7		ISS	RGD:1313518	D	RGD:13592920	20230718	MouseDO		OMIM:616517	
1305471	Atf6	activating transcription factor 6	gene	DOID:10320	asbestosis		ISO	RGD:1313517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25324550
1305471	Atf6	activating transcription factor 6	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26029869
1305471	Atf6	activating transcription factor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305471	Atf6	activating transcription factor 6	gene	DOID:1115	sarcoma		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305471	Atf6	activating transcription factor 6	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:1313517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349890
1305471	Atf6	activating transcription factor 6	gene	DOID:1324	lung cancer		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305471	Atf6	activating transcription factor 6	gene	DOID:13399	color blindness		ISO	RGD:1313517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26029869
1305471	Atf6	activating transcription factor 6	gene	DOID:13911	achromatopsia		ISO	RGD:1313517	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Achromatopsia	PMID:16199547|PMID:24033266|PMID:26029869|PMID:26063662|PMID:26070061|PMID:28492532
1305471	Atf6	activating transcription factor 6	gene	DOID:1909	melanoma		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305471	Atf6	activating transcription factor 6	gene	DOID:4448	macular degeneration		ISO	RGD:1313517	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	
1305471	Atf6	activating transcription factor 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305471	Atf6	activating transcription factor 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1313517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305471	Atf6	activating transcription factor 6	gene	DOID:5154	borna disease		IEP		D	RGD:32733622|PMID:16912310	20200701	RGD		protein:increased expression:cerebellum,  hippocampus	
1305471	Atf6	activating transcription factor 6	gene	DOID:5434	scrapie		ISO	RGD:1313517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349890
1305471	Atf6	activating transcription factor 6	gene	DOID:5679	retinal disease		ISO	RGD:1313517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:25741868|PMID:28492532
1305471	Atf6	activating transcription factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305471	Atf6	activating transcription factor 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305471	Atf6	activating transcription factor 6	gene	DOID:630	genetic disease		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305471	Atf6	activating transcription factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305471	Atf6	activating transcription factor 6	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313517	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532|PMID:30202406
1305471	Atf6	activating transcription factor 6	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1313518	D	RGD:329812011|PMID:34144219	20230522	RGD			
1305471	Atf6	activating transcription factor 6	gene	DOID:9003137	Photophobia		ISO	RGD:1313517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26029869
1305471	Atf6	activating transcription factor 6	gene	DOID:9006945	Diabetic Cardiomyopathies	ameliorates	ISO	RGD:1313518	D	RGD:156430337|PMID:36044268	20230228	RGD			
1305471	Atf6	activating transcription factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305471	Atf6	activating transcription factor 6	gene	DOID:9008022	Temporomandibular Joint Osteoarthritis		IEP		D	RGD:34888237|PMID:31007149	20200706	RGD		mRNA,protein:increased expression:chondrocyte	
1305471	Atf6	activating transcription factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305471	Atf6	activating transcription factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305471	Atf6	activating transcription factor 6	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:1313518	D	RGD:401842386|PMID:27813192	20231018	RGD			
1305471	Atf6	activating transcription factor 6	gene	DOID:9649	congenital nystagmus		ISO	RGD:1313517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26029869
1305473	Spag7	sperm associated antigen 7	gene	DOID:1324	lung cancer		ISO	RGD:1313520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305473	Spag7	sperm associated antigen 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305473	Spag7	sperm associated antigen 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1313520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305473	Spag7	sperm associated antigen 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:0050902	medulloblastoma		ISO	RGD:1313522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313522	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1313522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:1909	melanoma		ISO	RGD:1313522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1313522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:3275	thymoma		ISO	RGD:1313522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1313522	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1313522	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305474	L3mbtl3	L3MBTL histone methyl-lysine binding protein 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313522	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:0050745	diffuse large B-cell lymphoma	disease_progression	ISO	RGD:1313525	D	RGD:6483541|PMID:20919850	20120524	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:1313525	D	RGD:11554173	20200805	CTD		CTD Direct Evidence: marker/mechanism	PMID:31939706
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:0080178	mucositis		IEP		D	RGD:5509078|PMID:21846355	20120524	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:0080600	COVID-19		ISO	RGD:1313525	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:1313525	D	RGD:6483534|PMID:21440078	20120524	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:10286	prostate carcinoma		IDA		D	RGD:6483545|PMID:22268182	20120524	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:10534	stomach cancer		ISO	RGD:1313525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1313525	D	RGD:9068941	20210611	RGD		human cells in mouse model	PMID:29408335|REF_RGD_ID:127284846
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:11054	urinary bladder cancer		IEP		D	RGD:2317708|PMID:20367636	20100419	RGD		protein:increased expression:urinary bladder	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:1115	sarcoma		ISO	RGD:1313525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:1227	neutropenia		ISO	RGD:1313525	D	RGD:6483522|PMID:22092365	20120523	RGD		protein:increased expression:blood, T cell	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:12365	malaria		ISO	RGD:1313526	D	RGD:6483517|PMID:21931708	20120523	RGD		associated with Lung Neoplasms	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:127	leiomyoma		IDA		D	RGD:6483544|PMID:22302692	20120524	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1313525	D	RGD:153344580|PMID:29183007	20220829	RGD		human cells in mouse model	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:13949	interstitial cystitis		ISO	RGD:1313525	D	RGD:6483539|PMID:21166752	20120524	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:1574	alcohol use disorder		IEP		D	RGD:401938665|PMID:30277635	20231220	RGD		mRNA:decreased expression:hippocampus (rat)	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:1612	breast cancer		ISO	RGD:1313525	D	RGD:6483528|PMID:21880954	20120524	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1313525	D	RGD:6483516|PMID:22004841	20120523	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:1793	pancreatic cancer		ISO	RGD:1313525	D	RGD:2317704|PMID:20137856	20100416	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:1313525	D	RGD:2317703|PMID:20350215	20100416	RGD		protein:increased expression:pancreas	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:1909	melanoma		ISO	RGD:1313525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:219	colon cancer	treatment	IEP		D	RGD:127229954|PMID:33360052	20210607	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:2843	long QT syndrome		ISO	RGD:1313525	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:299	adenocarcinoma		ISO	RGD:1313525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19028472
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1313526	D	RGD:6483538|PMID:21294775	20120524	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:3070	high grade glioma		IDA		D	RGD:6483547|PMID:22262719	20120524	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1313525	D	RGD:153344584|PMID:31205511	20220829	RGD		human cells in mouse model	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1313525	D	RGD:152999419|PMID:26942465	20220719	RGD		protein:altered expression:lung (human)	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:4362	cervical cancer		ISO	RGD:1313525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:4545	mesenchymal chondrosarcoma		ISO	RGD:1313525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12817616
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1313525	D	RGD:2317705|PMID:12903495	20100416	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:5031	adult pineal parenchymal tumor	severity	ISO	RGD:1313525	D	RGD:6483520|PMID:21696422	20120523	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:5082	liver cirrhosis		ISO	RGD:1313525	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:39716576
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1313525	D	RGD:6483531|PMID:21576701	20120524	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:557	kidney disease		IEP		D	RGD:6483553|PMID:22017545	20120524	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1313525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:6039	uveal melanoma		ISO	RGD:1313525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313525	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:687	hepatoblastoma	ameliorates	ISO	RGD:1313525	D	RGD:153344539|PMID:31541079	20220824	RGD		human cells in mouse model	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:8719	in situ carcinoma		ISO	RGD:1313525	D	RGD:2317703|PMID:20350215	20100416	RGD		associated with Pancreatic Neoplasms;protein:increased expression:pancreas	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:8778	Crohn's disease		ISO	RGD:1313525	D	RGD:6483536|PMID:21364546	20120524	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:8893	psoriasis		ISO	RGD:1313525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10384915
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:8893	psoriasis		ISO	RGD:1313525	D	RGD:6483515|PMID:22499302	20120523	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9000918	Disease Progression		ISO	RGD:1313525	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29179997
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313525	D	RGD:2317702|PMID:20388395	20100416	RGD		associated with Pancreatic Neoplasms	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1313525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21442130
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1313525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19028472
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1313526	D	RGD:6483523|PMID:22070864	20120523	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9002936	Bile Duct Neoplasms	disease_progression	ISO	RGD:1313525	D	RGD:2317706|PMID:9869516	20100416	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9005372	Inflammation		ISO	RGD:1313525	D	RGD:6483533|PMID:21536322	20120524	RGD		associated with Common Variable Immunodeficiency	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9006395	Copper-Overload Cirrhosis		ISO	RGD:1313525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9007533	Hantavirus Infections		ISO	RGD:1313525	D	RGD:6483519|PMID:21795350	20120523	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9007838	Myocardial Reperfusion Injury		IDA		D	RGD:6483543|PMID:22405128	20120524	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1313525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12645814
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:1313525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15706428|PMID:18768436|PMID:19436038
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1313525	D	RGD:6483529|PMID:21693493	20120524	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9206	Barrett's esophagus	severity	ISO	RGD:1313525	D	RGD:6483521|PMID:22147251	20120523	RGD			
1305476	Mki67	marker of proliferation Ki-67	gene	DOID:9352	type 2 diabetes mellitus		IEP		D	RGD:2317709|PMID:20045412	20100419	RGD		protein:increased expression:hippocampus	
1305478	Elp6	elongator acetyltransferase complex subunit 6	gene	DOID:10534	stomach cancer		ISO	RGD:1606547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305478	Elp6	elongator acetyltransferase complex subunit 6	gene	DOID:1324	lung cancer		ISO	RGD:1606547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305478	Elp6	elongator acetyltransferase complex subunit 6	gene	DOID:1909	melanoma		ISO	RGD:1606547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305478	Elp6	elongator acetyltransferase complex subunit 6	gene	DOID:4362	cervical cancer		ISO	RGD:1606547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305478	Elp6	elongator acetyltransferase complex subunit 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305478	Elp6	elongator acetyltransferase complex subunit 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305478	Elp6	elongator acetyltransferase complex subunit 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305478	Elp6	elongator acetyltransferase complex subunit 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1305480	Snx7	sorting nexin 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305480	Snx7	sorting nexin 7	gene	DOID:10534	stomach cancer		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305480	Snx7	sorting nexin 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305480	Snx7	sorting nexin 7	gene	DOID:1115	sarcoma		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305480	Snx7	sorting nexin 7	gene	DOID:1324	lung cancer		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305480	Snx7	sorting nexin 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305480	Snx7	sorting nexin 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1313530	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305480	Snx7	sorting nexin 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305480	Snx7	sorting nexin 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313530	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305480	Snx7	sorting nexin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305481	Sfr1	SWI5-dependent homologous recombination repair protein 1	gene	DOID:1909	melanoma		ISO	RGD:1313532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305481	Sfr1	SWI5-dependent homologous recombination repair protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305481	Sfr1	SWI5-dependent homologous recombination repair protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313532	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305482	Lrrn2	leucine rich repeat neuronal 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1313536	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:25741868|PMID:28492532
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1	PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25512458|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31159747|PMID:31269945|PMID:31422574|PMID:31433215|PMID:31742824|PMID:31992580|PMID:32068069|PMID:32661327|PMID:32773772|PMID:33120919|PMID:33471991|PMID:35089076|PMID:35535697|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25512458|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27589204|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31159747|PMID:31269945|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31742824|PMID:31992580|PMID:32068069|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:33120919|PMID:33259954|PMID:33471991|PMID:33693762|PMID:34271781|PMID:35089076|PMID:35402282|PMID:35535697|PMID:36073783|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25512458|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28286799|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:29596542|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31054147|PMID:31159747|PMID:31269945|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31491536|PMID:31589614|PMID:31742824|PMID:31830689|PMID:31916644|PMID:31948886|PMID:31992580|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32459922|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32914570|PMID:32980694|PMID:33120919|PMID:33259954|PMID:33359728|PMID:33442023|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33535600|PMID:33693762|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34489406|PMID:34680242|PMID:34897210|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35535697|PMID:36073783|PMID:36134613|PMID:36243179|PMID:36360190|PMID:36586540|PMID:36647049|PMID:36715493|PMID:36790526|PMID:36824550|PMID:36988593|PMID:37262391|PMID:37296477|PMID:37509324|PMID:37534630|PMID:37536918|PMID:37673932|PMID:38284451|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25512458|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:29596542|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31054147|PMID:31159747|PMID:31269945|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31491536|PMID:31589614|PMID:31742824|PMID:31830689|PMID:31916644|PMID:31948886|PMID:31992580|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32459922|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32914570|PMID:32980694|PMID:33120919|PMID:33259954|PMID:33359728|PMID:33442023|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33535600|PMID:33693762|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34489406|PMID:34680242|PMID:34897210|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35535697|PMID:36073783|PMID:36134613|PMID:36243179|PMID:36360190|PMID:36586540|PMID:36647049|PMID:36715493|PMID:36790526|PMID:36824550|PMID:36988593|PMID:37262391|PMID:37296477|PMID:37509324|PMID:37534630|PMID:37536918|PMID:37673932|PMID:38284451|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25512458|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:29596542|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31054147|PMID:31159747|PMID:31269945|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31491536|PMID:31589614|PMID:31742824|PMID:31830689|PMID:31916644|PMID:31948886|PMID:31992580|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32459922|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32914570|PMID:32980694|PMID:33120919|PMID:33259954|PMID:33359728|PMID:33442023|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33535600|PMID:33693762|PMID:33939675|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34489406|PMID:34680242|PMID:34897210|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35535697|PMID:36073783|PMID:36134613|PMID:36243179|PMID:36360190|PMID:36409970|PMID:36586540|PMID:36647049|PMID:36715493|PMID:36790526|PMID:36824550|PMID:36988593|PMID:37262391|PMID:37296477|PMID:37509324|PMID:37534630|PMID:37536918|PMID:37673932|PMID:37791908|PMID:38284451|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:16472587|PMID:16619239|PMID:19039682|PMID:19132747|PMID:19723918|PMID:20051945|PMID:20205264|PMID:21376568|PMID:22703879|PMID:23960188|PMID:24027009|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24728327|PMID:24790682|PMID:25117502|PMID:25691505|PMID:25741868|PMID:25964535|PMID:26247049|PMID:26272126|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26898890|PMID:27435373|PMID:27589204|PMID:27930734|PMID:28492532|PMID:28765196|PMID:29345684|PMID:29596542|PMID:29659569|PMID:29665853|PMID:29887214|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30608896|PMID:31269945|PMID:31391288|PMID:31589614|PMID:31742824|PMID:31830689|PMID:31916644|PMID:32068069|PMID:32459922|PMID:32661327|PMID:32794040|PMID:32980694|PMID:33471991|PMID:33535600|PMID:34326862|PMID:34489406|PMID:34897210|PMID:35449176|PMID:36073783|PMID:36243179|PMID:36451132|PMID:36586540|PMID:36647049|PMID:36715493|PMID:36988593|PMID:37864171|PMID:38552658|PMID:39334433
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070275	hereditary nonpolyposis colorectal cancer type 4		ISO	RGD:1313536	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070275	hereditary nonpolyposis colorectal cancer type 4		ISO	RGD:1313536	D	RGD:7240710	20141015	OMIM			
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0070275	hereditary nonpolyposis colorectal cancer type 4		ISO	RGD:1313536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 | ClinVar Annotator: match by term: LYNCH SYNDROME 4 | ClinVar Annotator: match by term: Lynch syndrome 4	PMID:10037723|PMID:10763829|PMID:11574484|PMID:12697830|PMID:15608192|PMID:15887099|PMID:16187360|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16507833|PMID:17417778|PMID:17576681|PMID:18178629|PMID:18310077|PMID:18602922|PMID:18619468|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19479271|PMID:19723918|PMID:1992580|PMID:20051945|PMID:20186688|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20698049|PMID:21376568|PMID:21520333|PMID:22295133|PMID:22577899|PMID:22848017|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23709753|PMID:23837913|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24351291|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24763289|PMID:24790682|PMID:25186627|PMID:25274553|PMID:25318351|PMID:25430799|PMID:25503501|PMID:25512458|PMID:25637381|PMID:25691505|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26467025|PMID:26544533|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26888055|PMID:26895986|PMID:26976419|PMID:27064304|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27720647|PMID:27742654|PMID:27820123|PMID:27882345|PMID:27978560|PMID:28007021|PMID:28051113|PMID:28135145|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28577310|PMID:28640387|PMID:28668860|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28912153|PMID:28975465|PMID:29212164|PMID:29345684|PMID:29368341|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29665853|PMID:29684080|PMID:29750335|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29905759|PMID:29967336|PMID:30013564|PMID:30093976|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30322717|PMID:30337059|PMID:30376427|PMID:30389464|PMID:30478739|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30740824|PMID:30764633|PMID:30787465|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31332305|PMID:31346352|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31486992|PMID:31589614|PMID:31742824|PMID:31780696|PMID:31830689|PMID:31874108|PMID:31992580|PMID:32068069|PMID:32090079|PMID:32283892|PMID:32459922|PMID:32642664|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32761968|PMID:32794040|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32980694|PMID:33193653|PMID:33259954|PMID:33471991|PMID:33535600|PMID:33646313|PMID:33821390|PMID:34172528|PMID:34250417|PMID:34285288|PMID:34326862|PMID:34350294|PMID:34371384|PMID:34482403|PMID:34489406|PMID:34646395|PMID:34761457|PMID:34793666|PMID:34897210|PMID:35098669|PMID:35101336|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35884469|PMID:35886069|PMID:35988656|PMID:36010253|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36451132|PMID:36586540|PMID:36647049|PMID:36715493|PMID:36717774|PMID:36988593|PMID:37231433|PMID:37310942|PMID:37854294|PMID:37864171|PMID:38023196|PMID:38311346|PMID:38358347|PMID:38509102|PMID:38552658|PMID:38734621|PMID:38773787|PMID:38851388|PMID:38925456|PMID:38981878|PMID:39334433|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1313536	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:23435383|PMID:25741868|PMID:28492532|PMID:35451539
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11		ISO	RGD:1313536	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11	PMID:23435383|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36315513
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0111522	autosomal recessive progressive external ophthalmoplegia 1		ISO	RGD:1313536	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	PMID:10199405|PMID:11574484|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26249686|PMID:28492532|PMID:30653781
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:1313536	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10763829|PMID:15077197
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome	PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18007577|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27356891|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29489754|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31507588|PMID:31589614|PMID:31599855|PMID:31857677|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:34048176|PMID:34271781|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35886069|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome	PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18007577|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27356891|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29489754|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31507588|PMID:31589614|PMID:31599855|PMID:31857677|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:34048176|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35886069|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: MMR DEFICIENCY | ClinVar Annotator: match by term: Turcot syndrome	PMID:17576681|PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25186627|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28007021|PMID:28135145|PMID:28492532|PMID:28514183|PMID:29684080|PMID:29967336|PMID:30013564|PMID:31332305|PMID:31992580|PMID:33471991|PMID:34326862|PMID:35223509|PMID:35886069|PMID:36790526|PMID:38311346|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1313536	D	RGD:2315026|PMID:19124481	20091214	RGD			
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:10534	stomach cancer		ISO	RGD:1313536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:16199547|PMID:1992580|PMID:21376568|PMID:23709753|PMID:24033266|PMID:24362816|PMID:24440087|PMID:25741868|PMID:26247049|PMID:26467025|PMID:27589204|PMID:28449805|PMID:28492532|PMID:28640387|PMID:31101557|PMID:31589614|PMID:31992580|PMID:32794040|PMID:36647049|PMID:36988593
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:1313536	D	RGD:2315025|PMID:19692168	20091214	RGD		DNA:SNP: :rs6463524 (human)	
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:11111	hydronephrosis		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1115	sarcoma		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:11830	myopia		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:26689913|PMID:28492532|PMID:31386297
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:12849	autistic disorder		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:16199547|PMID:1992580|PMID:21376568|PMID:23709753|PMID:24033266|PMID:24362816|PMID:24440087|PMID:25741868|PMID:26247049|PMID:28449805|PMID:28492532|PMID:28640387|PMID:31101557|PMID:31992580|PMID:36988593
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1324	lung cancer		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	PMID:23709753|PMID:25741868|PMID:26110232|PMID:26247049|PMID:26467025|PMID:28492532|PMID:28873162|PMID:30306255|PMID:31992580|PMID:33693762|PMID:34308366
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:12697830|PMID:21376568|PMID:24362816|PMID:25741868|PMID:26681312|PMID:28492532|PMID:29596542|PMID:30013564|PMID:30337059|PMID:30389464|PMID:31992580|PMID:35101336
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1520	colon carcinoma		ISO	RGD:1313536	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10037723|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12900794|PMID:15470502|PMID:16338176|PMID:16472587|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18602922|PMID:18768816|PMID:19132747|PMID:19389263|PMID:20186688|PMID:20205264|PMID:20533529|PMID:21239990|PMID:21376568|PMID:21618646|PMID:22290698|PMID:22608206|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23709753|PMID:2402700|PMID:24027009|PMID:24362816|PMID:24728327|PMID:25194673|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25741868|PMID:25856668|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26333163|PMID:26467025|PMID:26689913|PMID:26845104|PMID:26976419|PMID:27082517|PMID:27376475|PMID:27435373|PMID:27930734|PMID:28135145|PMID:28166811|PMID:28218421|PMID:28466842|PMID:28492532|PMID:28502729|PMID:28514183|PMID:285143|PMID:29300386|PMID:29345684|PMID:29478780|PMID:29684080|PMID:30103829|PMID:30374176|PMID:30764633|PMID:31159747|PMID:31336956|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31650731|PMID:31857677|PMID:31992580|PMID:32547938|PMID:32658311|PMID:32832836|PMID:33471991|PMID:34994648|PMID:35223509|PMID:35263119|PMID:35449176|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1520	colon carcinoma		ISO	RGD:1313536	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10037723|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12900794|PMID:15470502|PMID:16338176|PMID:16472587|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18602922|PMID:18768816|PMID:19132747|PMID:19389263|PMID:20186688|PMID:20205264|PMID:20533529|PMID:21239990|PMID:21376568|PMID:21618646|PMID:22290698|PMID:22608206|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23709753|PMID:2402700|PMID:24027009|PMID:24362816|PMID:24728327|PMID:25194673|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25741868|PMID:25856668|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26333163|PMID:26467025|PMID:26689913|PMID:26845104|PMID:26976419|PMID:27082517|PMID:27376475|PMID:27435373|PMID:27930734|PMID:28135145|PMID:28166811|PMID:28218421|PMID:28466842|PMID:28492532|PMID:28502729|PMID:28514183|PMID:285143|PMID:29300386|PMID:29345684|PMID:29478780|PMID:29684080|PMID:30103829|PMID:30374176|PMID:30764633|PMID:31159747|PMID:31336956|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31650731|PMID:31857677|PMID:31992580|PMID:32547938|PMID:32658311|PMID:32832836|PMID:33471991|PMID:34326862|PMID:34994648|PMID:35223509|PMID:35263119|PMID:35449176|PMID:37296477|PMID:38552658|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1520	colon carcinoma		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:10037723|PMID:16338176|PMID:20533529|PMID:21376568|PMID:24362816|PMID:25741868|PMID:26110232|PMID:26116798|PMID:28492532|PMID:30764633
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:2293505|PMID:17394628	20091214	RGD			
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042|PMID:36988593|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26416026|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28617965|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29597095|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042|PMID:35449176|PMID:36988593|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31297337|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34359559|PMID:34371384|PMID:35189042|PMID:35449176|PMID:36988593|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29625052|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31297337|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32694065|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34162944|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34326862|PMID:34359559|PMID:34371384|PMID:35189042|PMID:35273153|PMID:35449176|PMID:36243179|PMID:36988593|PMID:37937776|PMID:38136308|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1313536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:15256438|PMID:15872200|PMID:16472587|PMID:16619239|PMID:18602922|PMID:20186688|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22081473|PMID:22658618|PMID:23012243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24351291|PMID:24362816|PMID:25741868|PMID:25964535|PMID:26110232|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26845104|PMID:27435373|PMID:27601186|PMID:28381238|PMID:28492532|PMID:28765196|PMID:28874130|PMID:29659569|PMID:29887214|PMID:30077346|PMID:30256826|PMID:30337059|PMID:30702970|PMID:31741177|PMID:31883735|PMID:31916644|PMID:31942411|PMID:31992580|PMID:32369273|PMID:32885271|PMID:36169650|PMID:36644715
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1657	ventricular septal defect		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epithelial ovarian cancer	PMID:25741868
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:219	colon cancer		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:17576681|PMID:21376568|PMID:24362816|PMID:25741868|PMID:28492532|PMID:29752822|PMID:30376427|PMID:31297337|PMID:35273153|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:2394	ovarian cancer		ISO	RGD:1313536	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:10479499|PMID:10480359|PMID:15077197|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:22086678|PMID:22290698|PMID:22703879|PMID:24027009|PMID:24072394|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25479140|PMID:25503501|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26798439|PMID:26845104|PMID:26900293|PMID:27028851|PMID:27356891|PMID:27435373|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27930734|PMID:28135145|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28528518|PMID:28874130|PMID:29570743|PMID:29684080|PMID:30093976|PMID:30122538|PMID:30166348|PMID:30521064|PMID:31269945|PMID:31391288|PMID:31742824|PMID:31830689|PMID:31921681|PMID:32068069|PMID:32566746|PMID:32661327|PMID:32832836|PMID:32914570|PMID:32980694|PMID:33413596|PMID:33471991|PMID:33850299|PMID:34172528|PMID:34350294|PMID:34567566|PMID:34897210|PMID:35171259|PMID:35449176|PMID:36200007|PMID:36243179|PMID:37534630|PMID:38509102
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:2394	ovarian cancer		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: ovarian cancer	PMID:10479499|PMID:10480359|PMID:15077197|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:22086678|PMID:22290698|PMID:22703879|PMID:24027009|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25479140|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27028851|PMID:27435373|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27930734|PMID:28466842|PMID:28492532|PMID:28874130|PMID:29570743|PMID:29684080|PMID:29905759|PMID:30093976|PMID:30166348|PMID:30521064|PMID:31269945|PMID:31391288|PMID:31742824|PMID:32068069|PMID:32661327|PMID:32914570|PMID:32980694|PMID:33471991|PMID:34350294|PMID:34897210|PMID:35449176|PMID:36243179|PMID:38358347|PMID:38509102|PMID:38734621|PMID:38981878
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:2394	ovarian cancer		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:24728327|PMID:25503501|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532|PMID:29570743|PMID:29684080|PMID:29905759|PMID:30093976|PMID:30166348|PMID:30521064|PMID:31269945|PMID:31391288|PMID:31742824|PMID:32068069|PMID:32661327|PMID:32914570|PMID:32980694|PMID:33471991|PMID:34350294|PMID:34897210|PMID:35449176|PMID:36243179|PMID:38358347|PMID:38509102|PMID:38734621|PMID:38981878
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1313536	D	RGD:2315028|PMID:18723338	20091214	RGD		DNA:SNP: :rs2228006 (human)	
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1313536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:16199547|PMID:19479271|PMID:21376568|PMID:23012243|PMID:24027009|PMID:24033266|PMID:24362816|PMID:24440087|PMID:24728327|PMID:25186627|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26110232|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28873162|PMID:28912153|PMID:28975465|PMID:29345684|PMID:29785153|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31300551|PMID:31391288|PMID:31992580|PMID:32547938|PMID:34326862|PMID:35988656
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3087	gingivitis		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1313536	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19293170
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3275	thymoma		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3459	breast carcinoma		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:16199547|PMID:21376568|PMID:24362816|PMID:25741868|PMID:28492532|PMID:34326862
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14756672|PMID:15887124|PMID:25701956
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:153297765|PMID:28218421	20220721	RGD		DNA:mutations:cds: (human)	
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:1599137|PMID:8072530	20070117	RGD			
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:1599142|PMID:16472587	20070117	RGD			
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11897781|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:20961292|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27854218|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34178123|PMID:34284872|PMID:34371384|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34115236|PMID:34178123|PMID:34284872|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34284872|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27854218|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:36091175|PMID:36647049|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34646395|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26416026|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28617965|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:29597095|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34820595|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:35982947|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:36931573|PMID:36988593|PMID:37536918|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34820595|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:35982947|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:36931573|PMID:36988593|PMID:36999887|PMID:37536918|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35739278|PMID:35886069|PMID:35939113|PMID:35982947|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37296477|PMID:37536918|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982|PMID:35739278|PMID:35886069|PMID:35939113|PMID:35982947|PMID:36011273|PMID:36091175
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37296477|PMID:37536918|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31042466|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982|PMID:35739278|PMID:35886069|PMID:35939113|PMID:35982947|PMID:36011273
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37296477|PMID:37536918|PMID:37673932|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36743879|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37296477|PMID:37534630|PMID:37536918|PMID:37673932|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25677497|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982|PMID:35739278|PMID:35886069|PMID:35939113|PMID:35982947|PMID:36011273
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982|PMID:35739278|PMID:35886069|PMID:35939113|PMID:35982947|PMID:36011273
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25786579|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982|PMID:35739278|PMID:35886069|PMID:35939113
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:35982947|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36743879|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37296477|PMID:37534630|PMID:37536918|PMID:37673932|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32876971|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34897210|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:35739278|PMID:35886069|PMID:35939113|PMID:35982947|PMID:35988656|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36743879|PMID:36790526|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37296477|PMID:37534630|PMID:37536918|PMID:37673932|PMID:38552658|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:2689598|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32876971|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34897210|PMID:34964038|PMID:34994648|PMID:35002543|PMID:3501477|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35451539
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982|PMID:35886069|PMID:35939113|PMID:35982947|PMID:35988656|PMID:36011273|PMID:36091175|PMID:36091691|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36743879|PMID:36790526|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37296477|PMID:37308967|PMID:37534630|PMID:37536918|PMID:37673932|PMID:38311346|PMID:38313678|PMID:38552658|PMID:38654521|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:862267|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:2689598|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29895855|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30850667|PMID:30877237|PMID:31019026|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31761620|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32191290|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32359129|PMID:32369273|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32809219|PMID:32827758|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32876971|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33442023|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34162944|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34645491|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34687117|PMID:34707284|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34897210|PMID:34964038|PMID:34994648|PMID:35002543|PMID:3501477|PMID:35089076
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:35098669|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35534704|PMID:35535697|PMID:35651417|PMID:35734982|PMID:35884425|PMID:35886069|PMID:35904628|PMID:35939113|PMID:35982947|PMID:35988656|PMID:36010253|PMID:36011273|PMID:36091175|PMID:36091691|PMID:36134613|PMID:36165864|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36644715|PMID:36647049|PMID:36715493|PMID:36743879|PMID:36790526|PMID:36824550|PMID:36896836|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37231433|PMID:37239058|PMID:37262391|PMID:37296477|PMID:37308967|PMID:37453563|PMID:37509324|PMID:37534630|PMID:37536918|PMID:37673932|PMID:37704212|PMID:37937776|PMID:37965459|PMID:38136308|PMID:38284451|PMID:38311346|PMID:38313678|PMID:38344144|PMID:38552658|PMID:38567167|PMID:38654521|PMID:38773787|PMID:38851388|PMID:38898688|PMID:39004446|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:862267|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:2689598|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29895855|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30850667|PMID:30877237|PMID:31019026|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31761620|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31916644|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32191290|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32359129|PMID:32369273|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32809219|PMID:32827758|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32876971|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33442023|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34162944|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34645491|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34687117|PMID:34707284|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34897210|PMID:34964038|PMID:34994648|PMID:35002543|PMID:3501477
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:35089076|PMID:35098669|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35534704|PMID:35535697|PMID:35651417|PMID:35734982|PMID:35884425|PMID:35886069|PMID:35904628|PMID:35939113|PMID:35982947|PMID:35988656|PMID:36010253|PMID:36011273|PMID:36091175|PMID:36091691|PMID:36134613|PMID:36165864|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36644715|PMID:36647049|PMID:36715493|PMID:36743879|PMID:36790526|PMID:36824550|PMID:36896836|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37231433|PMID:37239058|PMID:37262391|PMID:37296477|PMID:37308967|PMID:37453563|PMID:37509324|PMID:37534630|PMID:37536918|PMID:37673932|PMID:37704212|PMID:37937776|PMID:37965459|PMID:38136308|PMID:38284451|PMID:38311346|PMID:38313678|PMID:38344144|PMID:38552658|PMID:38566764|PMID:38567167|PMID:38654521|PMID:38773787|PMID:38851388|PMID:38898688|PMID:39004446|PMID:39334433|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:862267|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:2689598|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:2813514|PMID:28135145|PMID:28152038
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29895855|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30850667|PMID:30877237|PMID:31019026|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31346352|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31761620|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31916644|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32191290|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32359129|PMID:32369273|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32794040|PMID:32809219|PMID:32827758|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32876971|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33442023|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34162944|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34645491|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34687117|PMID:34707284|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34897210|PMID:34964038|PMID:34994648|PMID:35002543
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:3501477|PMID:35089076|PMID:35098669|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35534704|PMID:35535697|PMID:35651417|PMID:35734982|PMID:35884425|PMID:35886069|PMID:35904628|PMID:35939113|PMID:35982947|PMID:35988656|PMID:36010253|PMID:36011273|PMID:36091175|PMID:36091691|PMID:36134613|PMID:36165864|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36644715|PMID:36647049|PMID:36715493|PMID:36743879|PMID:36790526|PMID:36824550|PMID:36896836|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37231433|PMID:37239058|PMID:37262391|PMID:37296477|PMID:37306523|PMID:37308967|PMID:37453563|PMID:37509324|PMID:37534630|PMID:37536918|PMID:37673932|PMID:37704212|PMID:37842866|PMID:37937776|PMID:37965459|PMID:38136308|PMID:38284451|PMID:38311346|PMID:38313678|PMID:38344144|PMID:38509102|PMID:38552658|PMID:38566764|PMID:38567167|PMID:38654521|PMID:38773787|PMID:38851388|PMID:38874686|PMID:38898688|PMID:39004446|PMID:39334433|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:862267|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:10037723|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:12697830|PMID:12851690|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15521988|PMID:15608192|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16507833|PMID:16619239|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17258725|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:18007577|PMID:18030674|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19479271|PMID:19526325|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20051945|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23288611|PMID:23435383|PMID:23582141|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24113346|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24440087|PMID:24506336|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25640679|PMID:25691505|PMID:25741868|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26320870|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26544533|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27060149|PMID:27064304|PMID:27273229|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27742654|PMID:27854218|PMID:27863258|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28007021|PMID:28051113|PMID:2813514|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28912153|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29665853|PMID:29667044|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29905759|PMID:29941579|PMID:29967336|PMID:30013564|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30376427|PMID:30389464|PMID:30478739|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30764633|PMID:30787465|PMID:30850667|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31269945|PMID:31300551|PMID:31332305|PMID:31350202|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31494577|PMID:31589614|PMID:31742824|PMID:31780696
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:31830689|PMID:31860975|PMID:31874108|PMID:31883735|PMID:31916644|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32359129|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32794040|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33259954|PMID:33471991|PMID:33535600|PMID:33646313|PMID:33693762|PMID:33821390|PMID:34048176|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34285288|PMID:34326862|PMID:34350294|PMID:34465341|PMID:34482403|PMID:34489406|PMID:34646395|PMID:34667028|PMID:34687117|PMID:34761457|PMID:34793666|PMID:34897210|PMID:35089076|PMID:35098669|PMID:35101336|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35535697|PMID:35651417|PMID:35734982|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35939113|PMID:35988656|PMID:36091175|PMID:36165864|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36644715|PMID:36647049|PMID:36715493|PMID:36717774|PMID:36824296|PMID:36988593|PMID:37231433|PMID:37262391|PMID:37310942|PMID:37534630|PMID:37673932|PMID:37842866|PMID:37854294|PMID:37864171|PMID:38023196|PMID:38284451|PMID:38311346|PMID:38358347|PMID:38509102|PMID:38552658|PMID:38734621|PMID:38773787|PMID:38851388|PMID:38898688|PMID:38925456|PMID:38981878|PMID:39004446|PMID:39334433|PMID:7628019|PMID:8072530|PMID:8993976|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:12697830|PMID:12851690|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15521988|PMID:15608192|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16507833|PMID:16619239|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17258725|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19479271|PMID:19526325|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20051945|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22703879|PMID:22848017|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23288611|PMID:23435383|PMID:23582141|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24113346|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24440087|PMID:24506336|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26320870|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26544533|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27060149|PMID:27064304|PMID:27082517|PMID:27273229|PMID:27376475|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28007021|PMID:28051113|PMID:2813514|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28912153|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29478780|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29665853|PMID:29667044|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29905759|PMID:29941579|PMID:29967336|PMID:30013564|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30337059|PMID:30376427|PMID:30389464|PMID:30478739|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30764633|PMID:30787465|PMID:30850667|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31269945|PMID:31300551|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:31433215|PMID:31447099|PMID:31486992|PMID:31494577|PMID:31512090|PMID:31589614|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31830689|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31916644|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32359129|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32794040|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33259954|PMID:33442023|PMID:33471991|PMID:33535600|PMID:33646313|PMID:33693762|PMID:33821390|PMID:34048176|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34285288|PMID:34326862|PMID:34350294|PMID:34465341|PMID:34482403|PMID:34489406|PMID:34646395|PMID:34667028|PMID:34687117|PMID:34707284|PMID:34761457|PMID:34793666|PMID:34897210|PMID:34994648|PMID:35089076|PMID:35098669|PMID:35101336|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35535697|PMID:35651417|PMID:35734982|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35939113|PMID:35988656|PMID:36091175|PMID:36165864|PMID:36230473|PMID:36232793|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36717774|PMID:36824296|PMID:36824550|PMID:36988593|PMID:37231433|PMID:37262391|PMID:37310942|PMID:37509324|PMID:37534630|PMID:37839795|PMID:37842866|PMID:37854294|PMID:37864171|PMID:38023196|PMID:38284451|PMID:38311346|PMID:38358347|PMID:38509102|PMID:38552658|PMID:38734621|PMID:38773787|PMID:38851388|PMID:38898688|PMID:38925456|PMID:38981878|PMID:39004446|PMID:39334433|PMID:7628019|PMID:8072530|PMID:8993976|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:12697830|PMID:12851690|PMID:14756672|PMID:15256438|PMID:15521988|PMID:15608192|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16507833|PMID:16619239|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17258725|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19479271|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20051945|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23435383|PMID:23582141|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24068316|PMID:24113346|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24440087|PMID:24506336|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24790682|PMID:25006859|PMID:25186627|PMID:25274553|PMID:25318351|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25640679|PMID:25691505|PMID:25741868|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26320870|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26544533|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26811195|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27060149|PMID:27064304|PMID:27273229|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27742654|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28007021|PMID:28051113|PMID:2813514|PMID:28135145|PMID:28218421|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503822|PMID:28514183|PMID:28529006|PMID:28562508|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28912153|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29368341|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29665853|PMID:29667044|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29905759|PMID:29941579|PMID:29945567|PMID:29967336|PMID:30013564|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30376427|PMID:30389464|PMID:30478739|PMID:30521064|PMID:30608896|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30764633|PMID:30787465|PMID:30850667|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31269945|PMID:31300551|PMID:31332305|PMID:31350202|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422818|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31494577|PMID:31589614|PMID:31742824|PMID:31780696|PMID:31830689|PMID:31860975|PMID:31874108|PMID:31916644|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32268276|PMID:32359129|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32642664
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:32658311|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32720237|PMID:32761968|PMID:32773772|PMID:32794040|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32980694|PMID:33193653|PMID:33259954|PMID:33471991|PMID:33535600|PMID:33646313|PMID:33693762|PMID:33821390|PMID:34048176|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34371384|PMID:34465341|PMID:34482403|PMID:34489406|PMID:34646395|PMID:34667028|PMID:34687117|PMID:34761457|PMID:34793666|PMID:34897210|PMID:35098669|PMID:35101336|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35306340|PMID:35402282|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35532657|PMID:35651417|PMID:35734982|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35939113|PMID:35988656|PMID:36091175|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36421850|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36717774|PMID:36824296|PMID:36988593|PMID:37231433|PMID:37310942|PMID:37534630|PMID:37842866|PMID:37854294|PMID:37864171|PMID:37937776|PMID:38023196|PMID:38284451|PMID:38311346|PMID:38358347|PMID:38509102|PMID:38552658|PMID:38734621|PMID:38773787|PMID:38851388|PMID:38925456|PMID:38981878|PMID:39334433|PMID:8072530|PMID:8993976|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:12697830|PMID:12851690|PMID:14756672|PMID:15256438|PMID:15521988|PMID:15608192|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16507833|PMID:16619239|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17258725|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19479271|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20051945|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23435383|PMID:23582141|PMID:23629955|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24440087|PMID:24506336|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25637381|PMID:25640679|PMID:25691505|PMID:25741868|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26320870|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26544533|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26811195|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26976419|PMID:27060149|PMID:27064304|PMID:27082517|PMID:27273229|PMID:27376475|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27882345|PMID:27978560|PMID:28007021|PMID:28051113|PMID:28135145|PMID:28218421|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28912153|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29368341|PMID:29478780|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29665853|PMID:29667044|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29905759|PMID:29941579|PMID:29967336|PMID:30013564|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30376427|PMID:30389464|PMID:30478739|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30764633|PMID:30787465|PMID:30850667|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31233827|PMID:31269945|PMID:31300551|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31494577|PMID:31512090|PMID:31589614|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31830689|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31916644|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32060687|PMID:32060697|PMID:32068069
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1313536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:32090079|PMID:32359129|PMID:32459922|PMID:32510614|PMID:32547938|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32794040|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32980694|PMID:33193653|PMID:33259954|PMID:33471991|PMID:33535600|PMID:33646313|PMID:33821390|PMID:34048176|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34285288|PMID:34326862|PMID:34350294|PMID:34371384|PMID:34465341|PMID:34482403|PMID:34489406|PMID:34646395|PMID:34667028|PMID:34687117|PMID:34761457|PMID:34793666|PMID:34897210|PMID:34994648|PMID:35098669|PMID:35101336|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35535697|PMID:35651417|PMID:35734982|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35939113|PMID:35988656|PMID:36010253|PMID:36091175|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36421850|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36717774|PMID:36824296|PMID:36988593|PMID:37231433|PMID:37262391|PMID:37310942|PMID:37534630|PMID:37839795|PMID:37842866|PMID:37854294|PMID:37864171|PMID:38023196|PMID:38311346|PMID:38358347|PMID:38509102|PMID:38552658|PMID:38734621|PMID:38773787|PMID:38851388|PMID:38898688|PMID:38925456|PMID:38981878|PMID:39004446|PMID:39334433|PMID:7628019|PMID:8072530|PMID:8993976|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:480	movement disease		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5041	esophageal cancer		ISO	RGD:1313536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28492532|PMID:31428572|PMID:35449176|PMID:39334433
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:7628019|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35535697|PMID:7628019|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35535697|PMID:7628019|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:30013564|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35189042|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:30013564|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35189042|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26416026|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28617965|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29597095|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:36134613|PMID:36243179|PMID:36360190|PMID:36446039|PMID:37536918|PMID:7628019|PMID:9419979|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:37536918|PMID:7628019|PMID:9419979|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:7628019|PMID:9419979|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:37536918|PMID:7628019|PMID:9419979|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:37296477|PMID:37536918|PMID:7628019|PMID:9419979|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36743879|PMID:37296477|PMID:37536918|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36743879|PMID:37296477|PMID:37536918|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36743879|PMID:36790526|PMID:37296477|PMID:37536918|PMID:38552658|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30787465|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31784482|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34707284|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36743879|PMID:36790526|PMID:37231433|PMID:37262391|PMID:37296477|PMID:37534630|PMID:37536918|PMID:38552658|PMID:38567167|PMID:38773787|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30787465|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31784482|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34707284|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36743879|PMID:36790526|PMID:37231433|PMID:37262391|PMID:37296477|PMID:37534630|PMID:37536918|PMID:38552658|PMID:38567167|PMID:38773787|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28286799|PMID:28365877|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30787465|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31784482|PMID:31874108|PMID:31916644|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34707284|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36743879|PMID:36790526|PMID:37231433|PMID:37262391|PMID:37296477|PMID:37534630|PMID:37536918|PMID:38552658|PMID:38567167|PMID:38773787|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30787465|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31784482|PMID:31874108|PMID:31916644|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34707284|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36743879|PMID:36790526|PMID:37231433|PMID:37262391|PMID:37296477|PMID:37534630|PMID:37536918|PMID:38552658|PMID:38567167|PMID:38773787|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23612316|PMID:23709753|PMID:23837913|PMID:23960188|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28590052|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29368341|PMID:29570743|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30311369|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30787465|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31248605|PMID:31327751|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31486992|PMID:31784482|PMID:31874108|PMID:31916644|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:33939675|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34707284|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36360190|PMID:36409970|PMID:36446039|PMID:36743879|PMID:36790526|PMID:37231433|PMID:37262391|PMID:37296477|PMID:37534630|PMID:37536918|PMID:37791908|PMID:38552658|PMID:38567167|PMID:38773787|PMID:38851388|PMID:38898688|PMID:39004446|PMID:7628019|PMID:9419979|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10479499|PMID:10480359|PMID:15077197|PMID:18273873|PMID:18602922|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20698049|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24689082|PMID:24728327|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26976419|PMID:27028851|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27601186|PMID:27616075|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28051113|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29659569|PMID:29684080|PMID:29750335|PMID:29785153|PMID:29887214|PMID:30256826|PMID:30267214|PMID:30337059|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31486992|PMID:31874108|PMID:31916644|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:33120919|PMID:33193653|PMID:33471991|PMID:33821390|PMID:34326862|PMID:34761457|PMID:35089076|PMID:35171259|PMID:35402282|PMID:35449176|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36717774|PMID:37231433|PMID:38773787|PMID:38925456
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10479499|PMID:10480359|PMID:15077197|PMID:18273873|PMID:18602922|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20698049|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24689082|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26976419|PMID:27028851|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27601186|PMID:27616075|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28051113|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29659569|PMID:29684080|PMID:29750335|PMID:29785153|PMID:29887214|PMID:30256826|PMID:30267214|PMID:30337059|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31486992|PMID:31874108|PMID:31916644|PMID:31992580|PMID:32658311|PMID:32885271|PMID:33120919|PMID:33193653|PMID:33471991|PMID:33821390|PMID:34326862|PMID:34761457|PMID:35089076|PMID:35171259|PMID:35402282|PMID:35449176|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36717774|PMID:37231433|PMID:38773787|PMID:38925456
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10479499|PMID:10480359|PMID:15077197|PMID:17417778|PMID:18273873|PMID:18602922|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20698049|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24689082|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26976419|PMID:27028851|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27601186|PMID:27616075|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28051113|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29659569|PMID:29684080|PMID:29750335|PMID:29785153|PMID:29887214|PMID:30246500|PMID:30256826|PMID:30267214|PMID:30311369|PMID:30337059|PMID:30651582|PMID:30653781|PMID:30787465|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31486992|PMID:31874108|PMID:31916644|PMID:31992580|PMID:32658311|PMID:32885271|PMID:33120919|PMID:33193653|PMID:33471991|PMID:33821390|PMID:34326862|PMID:34707284|PMID:34761457|PMID:35089076|PMID:35171259|PMID:35402282|PMID:35449176|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36717774|PMID:37231433|PMID:38773787|PMID:38925456
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:17016615|PMID:17417778|PMID:18273873|PMID:18602922|PMID:19479271|PMID:20186688|PMID:20205264|PMID:20531397|PMID:20698049|PMID:22290698|PMID:22577899|PMID:22949387|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24351291|PMID:25006859|PMID:25186627|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26232782|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26866578|PMID:26976419|PMID:27435373|PMID:27601186|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28051113|PMID:28135145|PMID:28492532|PMID:28765196|PMID:28873162|PMID:28975465|PMID:29212164|PMID:29333623|PMID:29368341|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29750335|PMID:29785153|PMID:29887214|PMID:30256826|PMID:30267214|PMID:30337059|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31433215|PMID:31486992|PMID:31874108|PMID:31916644|PMID:31992580|PMID:32459922|PMID:32658311|PMID:32720237|PMID:32885271|PMID:32980694|PMID:33193653|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34326862|PMID:34371384|PMID:34761457|PMID:35171259|PMID:35264596|PMID:35306340|PMID:35402282|PMID:35449176|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36717774|PMID:37231433|PMID:37937776|PMID:38311346|PMID:38773787|PMID:38851388|PMID:38925456|PMID:39334433
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17417778|PMID:19479271|PMID:20205264|PMID:20698049|PMID:22949387|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24351291|PMID:25186627|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26976419|PMID:27435373|PMID:27882345|PMID:27978560|PMID:28051113|PMID:28135145|PMID:28492532|PMID:28765196|PMID:28873162|PMID:28975465|PMID:29212164|PMID:29368341|PMID:29596542|PMID:29659569|PMID:29684080|PMID:29750335|PMID:29785153|PMID:29887214|PMID:30256826|PMID:30267214|PMID:30337059|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31433215|PMID:31486992|PMID:31874108|PMID:31916644|PMID:31992580|PMID:32459922|PMID:32658311|PMID:32885271|PMID:32980694|PMID:33193653|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34326862|PMID:34371384|PMID:34761457|PMID:35171259|PMID:35264596|PMID:35402282|PMID:35449176|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36717774|PMID:37231433|PMID:38311346|PMID:38773787|PMID:38925456
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313536	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:7998	hyperthyroidism		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:824	periodontitis		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:8488	polyhydramnios		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24689082|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28492532|PMID:28514183|PMID:29967336|PMID:31992580|PMID:35223509
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313536	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17717427
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1313536	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15077197
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9002904	Primitive Neuroectodermal Tumors		ISO	RGD:1313536	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15077197
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1313536	D	RGD:1599141|PMID:10763829	20070117	RGD			
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9003507	Premature Birth		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9003685	Mismatch Repair Cancer Syndrome 4		ISO	RGD:1313536	D	RGD:7240710	20201202	OMIM			
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9003685	Mismatch Repair Cancer Syndrome 4		ISO	RGD:1313536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 4 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 4 | ClinVar Annotator: match by term: PMS2-related condition	PMID:10763829|PMID:16199547|PMID:16472587|PMID:16507833|PMID:17417778|PMID:18178629|PMID:18602922|PMID:18619468|PMID:18768816|PMID:19132747|PMID:19283792|PMID:19479271|PMID:1992580|PMID:20186688|PMID:20205264|PMID:20531397|PMID:20587412|PMID:20603082|PMID:21239990|PMID:21376568|PMID:21520333|PMID:22577899|PMID:22675565|PMID:22703879|PMID:22848017|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24362816|PMID:24440087|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:25186627|PMID:25318351|PMID:25430799|PMID:25503501|PMID:25512458|PMID:25637381|PMID:25691505|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25980754|PMID:26110232|PMID:26247049|PMID:26318770|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26837502|PMID:26888055|PMID:26895986|PMID:26976419|PMID:27060170|PMID:27435373|PMID:27443514|PMID:27720647|PMID:27978560|PMID:28051113|PMID:28135145|PMID:28449805|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28577310|PMID:28640387|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28912153|PMID:28975465|PMID:29335925|PMID:29345684|PMID:29566657|PMID:29570743|PMID:29581542|PMID:29596542|PMID:29684080|PMID:29750335|PMID:29785153|PMID:29887214|PMID:29905759|PMID:29967336|PMID:30093976|PMID:30122538|PMID:30161022|PMID:30166348|PMID:30322717|PMID:30447919|PMID:30478739|PMID:30521064|PMID:30608896|PMID:30651582|PMID:30653781|PMID:30787465|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31428572|PMID:31486992|PMID:31742824|PMID:31780696|PMID:31830689|PMID:31874108|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32459922|PMID:32620519|PMID:32642664|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32832836|PMID:32868316|PMID:32914570|PMID:32980694|PMID:33193653|PMID:33259954|PMID:33471991|PMID:33535600|PMID:33821390|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34350294|PMID:34371384|PMID:34482403|PMID:34489406|PMID:34897210|PMID:35125405|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35988656|PMID:36010253|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36715493|PMID:36988593|PMID:37231433|PMID:37854294|PMID:38311346|PMID:38358347|PMID:38509102|PMID:38552658|PMID:38734621|PMID:38773787|PMID:38874686|PMID:38981878|PMID:39334433|PMID:39669620
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18007577|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27273229|PMID:27356891|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29489754|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31507588|PMID:31589614|PMID:31599855|PMID:31857677|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32459922|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:33753322|PMID:33881185|PMID:34048176|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34326862|PMID:34371384|PMID:34680242|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35475445|PMID:35535697|PMID:35886069|PMID:35982947|PMID:36360190|PMID:36988593|PMID:37536918|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26333163|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27273229|PMID:27356891|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:29489754|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30723297|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31054147|PMID:31056861|PMID:31159747|PMID:31297337|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31507588|PMID:31599855|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32459922|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32832836|PMID:32876971|PMID:32885271|PMID:32959997|PMID:33087929|PMID:33120919|PMID:33259954|PMID:33471991|PMID:33693762|PMID:33753322|PMID:33881185|PMID:34048176|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308104|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34897210|PMID:35089076|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35441217|PMID:35449176|PMID:35451539|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35886069|PMID:35982947|PMID:36169650|PMID:36360190|PMID:36644715|PMID:36790526|PMID:36988593|PMID:37262391|PMID:37296477|PMID:37534630|PMID:37536918|PMID:37673932|PMID:38284451|PMID:38313678|PMID:38851388|PMID:38898688|PMID:39004446|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:1313536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 | ClinVar Annotator: match by term: mismatch repair cancer syndrome 1	PMID:16199547|PMID:17576681|PMID:18602922|PMID:20205264|PMID:20682701|PMID:21376568|PMID:22848017|PMID:23012243|PMID:24362816|PMID:24440087|PMID:24689082|PMID:25186627|PMID:25512458|PMID:25741868|PMID:26110232|PMID:26467025|PMID:26681312|PMID:27435373|PMID:28007021|PMID:28492532|PMID:28514183|PMID:29128982|PMID:29684080|PMID:29922827|PMID:29967336|PMID:31332305|PMID:31992580|PMID:32773772|PMID:33471991|PMID:34326862|PMID:35223509|PMID:35886069|PMID:36586540|PMID:38311346|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of uterus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9004271	Colonic Polyps		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon polyps	PMID:19479271|PMID:24027009|PMID:24033266|PMID:25186627|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29785153|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31391288|PMID:31992580|PMID:34326862
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9006537	Supratentorial Neoplasms		ISO	RGD:1313536	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15077197
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11897781|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29286535|PMID:29333623|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29570743
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34178123|PMID:34284872|PMID:34371384|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29489754|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31599855|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34271781|PMID:34284872|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35402282|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:2813514|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:36091175|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22295133|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34646395|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18709565|PMID:187425|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28514183|PMID:285143|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34680242|PMID:34820595|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:35982947|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36931573|PMID:36988593|PMID:36999887|PMID:37536918|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:2648339|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28286799|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31042466|PMID:31054147|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31248605|PMID:31269945|PMID:31297337|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31642931|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:3199258|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060687|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34680242|PMID:34793666|PMID:34820595|PMID:34873870|PMID:34964038|PMID:34994648|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35532657|PMID:35535697|PMID:35734982|PMID:35739278|PMID:35886069|PMID:35939113|PMID:35982947|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36931573|PMID:36988593
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:36999887|PMID:37296477|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:36999887|PMID:37296477|PMID:37536918|PMID:37673932|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794|PMID:9756907
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10763829|PMID:11574484|PMID:11948175|PMID:12697830|PMID:12851690|PMID:15608192|PMID:15887099|PMID:15942939|PMID:16187360|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16507833|PMID:16619239|PMID:17016615|PMID:17417778|PMID:17576681|PMID:17851451|PMID:17976239|PMID:18178629|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19723918|PMID:1992580|PMID:20051945|PMID:20186688|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20698049|PMID:21261604|PMID:21354867|PMID:21376568|PMID:21520333|PMID:22204421|PMID:22290698|PMID:22295133|PMID:22461402|PMID:22577899|PMID:22848017|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24351291|PMID:24362816|PMID:24440087|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24790682|PMID:25186627|PMID:25274553|PMID:25318351|PMID:25430799|PMID:25503501|PMID:25512458|PMID:25559809|PMID:25637381|PMID:25691505|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26391938|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26895986|PMID:26976419|PMID:27017610|PMID:27064304|PMID:27146957|PMID:27273229|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27820123|PMID:27882345|PMID:27978560|PMID:28007021|PMID:28051113|PMID:28135145|PMID:28218421|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28577310|PMID:28640387|PMID:28668860|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28912153|PMID:28975465|PMID:29025590|PMID:29192238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29368341|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29665853|PMID:29684080|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29905759|PMID:29967336|PMID:30013564|PMID:30093976|PMID:30161022|PMID:30166348|PMID:30256826|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30376427|PMID:30389464|PMID:30478739|PMID:30521064|PMID:30608896|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30723297|PMID:30740824|PMID:30764633|PMID:30787465|PMID:30833958|PMID:30850667|PMID:30877237|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31332305|PMID:31350202|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31465090|PMID:31486992|PMID:31589614|PMID:31599855|PMID:31642931|PMID:31742824|PMID:31780696|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31874108|PMID:31916644|PMID:31942411|PMID:31992580|PMID:32068069|PMID:32090079|PMID:32359129|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32571878|PMID:32642664|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32761968|PMID:32794040|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33247381|PMID:33259954|PMID:33471991|PMID:33535600|PMID:33646313|PMID:33821390|PMID:34172528|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34326862|PMID:34350294|PMID:34371384|PMID:34482403|PMID:34489406|PMID:34646395|PMID:34687117|PMID:34761457|PMID:34793666|PMID:34897210|PMID:34964038|PMID:3501477|PMID:35098669|PMID:35101336|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35651417|PMID:35884425|PMID:35884469|PMID:35886069|PMID:35988656|PMID:36010253|PMID:36091691|PMID:36165864|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36451132|PMID:36586540
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:36627197|PMID:36647049|PMID:36715493|PMID:36717774|PMID:36988593|PMID:36999887|PMID:37231433|PMID:37310942|PMID:37854294|PMID:37864171|PMID:38023196|PMID:38311346|PMID:38313678|PMID:38358347|PMID:38509102|PMID:38552658|PMID:38654521|PMID:38734621|PMID:38773787|PMID:38925456|PMID:38981878|PMID:39334433|PMID:862267|PMID:9536098
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1313536	D	RGD:1599141|PMID:10763829	20070117	RGD			
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1313536	D	RGD:2306714|PMID:11900875	20090504	RGD			
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:25741868|PMID:28492532
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313536	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:27449771|PMID:27616075|PMID:28492532|PMID:31159747|PMID:33294277|PMID:35089076
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313536	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:26689913|PMID:27449771|PMID:27616075|PMID:28492532|PMID:31159747|PMID:33294277|PMID:35089076|PMID:35127508|PMID:36011273
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313536	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:26689913|PMID:27449771|PMID:27616075|PMID:28492532|PMID:31159747|PMID:31391288|PMID:33294277|PMID:35089076|PMID:35127508|PMID:36011273
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
1305483	Pms2	PMS1 homolog 2, mismatch repair system component	gene	DOID:936	brain disease		ISO	RGD:1313536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532
1305484	Dpep3	dipeptidase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305486	Fam98a	family with sequence similarity 98, member A	gene	DOID:0060058	lymphoma		ISO	RGD:1603675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305486	Fam98a	family with sequence similarity 98, member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305486	Fam98a	family with sequence similarity 98, member A	gene	DOID:3070	high grade glioma		ISO	RGD:1603675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305486	Fam98a	family with sequence similarity 98, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:0050567	orofacial cleft		ISO	RGD:1313544	D	RGD:13831307|PMID:28543373	20181221	RGD		DNA:missense mutation: :p.V496A (rs59088485) (human)	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:0050567	orofacial cleft		ISO	RGD:1313544	D	RGD:13831309|PMID:27229527	20181221	RGD		DNA:missense mutation: :p.V496A (rs59088485) (human)	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:0050567	orofacial cleft		ISO	RGD:1313544	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonsyndromic cleft lip palate	PMID:25741868
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:11981	morbid obesity	treatment	ISO	RGD:1313544	D	RGD:13831306|PMID:22384010	20181221	RGD			
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1313544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:1909	melanoma		ISO	RGD:1313544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:3275	thymoma		ISO	RGD:1313544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:1313544	D	RGD:152995523|PMID:29885404	20220628	RGD		protein:increased expression:lung (human)	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313544	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:9004118	Experimental Melanoma	treatment	ISO	RGD:1313544	D	RGD:13831304|PMID:27539851	20181221	RGD			
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:9005372	Inflammation		ISO	RGD:1313544	D	RGD:13831308|PMID:25533197	20181221	RGD		associated with nonalcoholic fatty liver disease	
1305489	Acss2	acyl-CoA synthetase short-chain family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1350261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:39568205
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:10907	microcephaly		ISO	RGD:1350261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:39568205
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:1115	sarcoma		ISO	RGD:1350261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1350261	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1350261	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1350261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:39568205
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1350261	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:9008350	NATURAL KILLER CELL ENTEROPATHY		ISO	RGD:1350261	D	RGD:8554872	20200121	ClinVar		ClinVar Annotator: match by term: Natural killer cell enteropathy	
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350261	D	RGD:11554173	20161213	CTD		CTD Direct Evidence: marker/mechanism	PMID:18206229|PMID:27798625
1305490	Runx1t1	RUNX1 partner transcriptional co-repressor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305491	Rnf2	ring finger protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305491	Rnf2	ring finger protein 2	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:1313548	D	RGD:9491843|PMID:19585519	20140916	RGD		protein:increased expression:pancreas	
1305491	Rnf2	ring finger protein 2	gene	DOID:0070416	Luo-Schoch-Yamamoto syndrome		ISO	RGD:1313548	D	RGD:7240710	20211027	OMIM			
1305491	Rnf2	ring finger protein 2	gene	DOID:0070416	Luo-Schoch-Yamamoto syndrome		ISO	RGD:1313548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LUO-SCHOCH-YAMAMOTO SYNDROME | ClinVar Annotator: match by term: Luo-Schoch-Yamamoto syndrome	PMID:25741868
1305491	Rnf2	ring finger protein 2	gene	DOID:0080016	spina bifida		IEP		D	RGD:9491842|PMID:20515739	20140916	RGD			
1305491	Rnf2	ring finger protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305491	Rnf2	ring finger protein 2	gene	DOID:3275	thymoma		ISO	RGD:1313548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305491	Rnf2	ring finger protein 2	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1313549|RGD:1313548	D	RGD:9491843|PMID:19585519	20140916	RGD		protein:increased expression:pancreas	
1305491	Rnf2	ring finger protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305491	Rnf2	ring finger protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305491	Rnf2	ring finger protein 2	gene	DOID:9001725	Retina Reperfusion Injury		IEP		D	RGD:9491844|PMID:20740046	20140916	RGD			
1305491	Rnf2	ring finger protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1305491	Rnf2	ring finger protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305491	Rnf2	ring finger protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305492	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305492	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305492	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305492	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305492	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1607008	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305492	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305492	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305492	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1607008	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305492	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305492	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305492	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305492	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305492	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305492	Gpbp1	GC-rich promoter binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305493	Sema6a	semaphorin 6A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305493	Sema6a	semaphorin 6A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305493	Sema6a	semaphorin 6A	gene	DOID:10534	stomach cancer		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305493	Sema6a	semaphorin 6A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305493	Sema6a	semaphorin 6A	gene	DOID:1115	sarcoma		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305493	Sema6a	semaphorin 6A	gene	DOID:1909	melanoma		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305493	Sema6a	semaphorin 6A	gene	DOID:3275	thymoma		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305493	Sema6a	semaphorin 6A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305493	Sema6a	semaphorin 6A	gene	DOID:5041	esophageal cancer		ISO	RGD:1313551	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305493	Sema6a	semaphorin 6A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305493	Sema6a	semaphorin 6A	gene	DOID:6039	uveal melanoma		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305493	Sema6a	semaphorin 6A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305493	Sema6a	semaphorin 6A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305493	Sema6a	semaphorin 6A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305493	Sema6a	semaphorin 6A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305493	Sema6a	semaphorin 6A	gene	DOID:9005231	Self-Limited Delayed Puberty		ISO	RGD:1313551	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Delayed puberty, self-limited	
1305493	Sema6a	semaphorin 6A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1305493	Sema6a	semaphorin 6A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305494	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305494	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305494	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305494	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305494	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305494	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305494	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305494	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305494	Gtf2h3	general transcription factor IIH subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305495	Plxnb2	plexin B2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305495	Plxnb2	plexin B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305495	Plxnb2	plexin B2	gene	DOID:10534	stomach cancer		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305495	Plxnb2	plexin B2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305495	Plxnb2	plexin B2	gene	DOID:1115	sarcoma		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305495	Plxnb2	plexin B2	gene	DOID:1324	lung cancer		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305495	Plxnb2	plexin B2	gene	DOID:1909	melanoma		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305495	Plxnb2	plexin B2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305495	Plxnb2	plexin B2	gene	DOID:3275	thymoma		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305495	Plxnb2	plexin B2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305495	Plxnb2	plexin B2	gene	DOID:4362	cervical cancer		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305495	Plxnb2	plexin B2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313554	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305495	Plxnb2	plexin B2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305495	Plxnb2	plexin B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305495	Plxnb2	plexin B2	gene	DOID:6039	uveal melanoma		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305495	Plxnb2	plexin B2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305495	Plxnb2	plexin B2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305495	Plxnb2	plexin B2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1305495	Plxnb2	plexin B2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305495	Plxnb2	plexin B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305495	Plxnb2	plexin B2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305496	Msc	musculin	gene	DOID:0080600	COVID-19		ISO	RGD:1313556	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305496	Msc	musculin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305496	Msc	musculin	gene	DOID:783	end stage renal disease	susceptibility	ISO	RGD:1313556	D	RGD:596936222|PMID:19929986	20241226	RGD		associated with type 1 diabetes mellitus;DNA:SNP:5'UTR:rs9298190(human)	
1305496	Msc	musculin	gene	DOID:9000099	Experimental Colitis	exacerbates	ISO	RGD:1313557	D	RGD:596936211|PMID:33448336	20241226	RGD			
1305496	Msc	musculin	gene	DOID:9000099	Experimental Colitis	no_association	ISO	RGD:1313557	D	RGD:596936221|PMID:36848960	20241226	RGD			
1305498	Cotl1	coactosin-like F-actin binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305498	Cotl1	coactosin-like F-actin binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305498	Cotl1	coactosin-like F-actin binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1313560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305498	Cotl1	coactosin-like F-actin binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1313560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305498	Cotl1	coactosin-like F-actin binding protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313560	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305498	Cotl1	coactosin-like F-actin binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305498	Cotl1	coactosin-like F-actin binding protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313560	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
1305498	Cotl1	coactosin-like F-actin binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305498	Cotl1	coactosin-like F-actin binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305499	Calml3	calmodulin-like 3	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1313562	D	RGD:9068941	20220318	RGD		protein:decreased expression:liver (human)	PMID:29445139|REF_RGD_ID:151665319
1305499	Calml3	calmodulin-like 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313562	D	RGD:9068941	20220318	RGD		associated with hepatocellular carcinoma; protein:decreased expression:liver (human)	PMID:29445139|REF_RGD_ID:151665319
1305499	Calml3	calmodulin-like 3	gene	DOID:9000965	Neoplasm Metastasis	ameliorates	ISO	RGD:1313562	D	RGD:151665319|PMID:29445139	20220318	RGD		associated with hepatocellular carcinoma; human cells in mouse model	
1305499	Calml3	calmodulin-like 3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1313562	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
1305500	Fam204a	family with sequence similarity 204, member A	gene	DOID:1115	sarcoma		ISO	RGD:1313564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305500	Fam204a	family with sequence similarity 204, member A	gene	DOID:1324	lung cancer		ISO	RGD:1313564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305500	Fam204a	family with sequence similarity 204, member A	gene	DOID:4362	cervical cancer		ISO	RGD:1313564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305500	Fam204a	family with sequence similarity 204, member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1313564	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305500	Fam204a	family with sequence similarity 204, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305500	Fam204a	family with sequence similarity 204, member A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305500	Fam204a	family with sequence similarity 204, member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305500	Fam204a	family with sequence similarity 204, member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305500	Fam204a	family with sequence similarity 204, member A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305501	Tufm	Tu translation elongation factor, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305501	Tufm	Tu translation elongation factor, mitochondrial	gene	DOID:0111494	combined oxidative phosphorylation deficiency 4		ISO	RGD:1313566	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305501	Tufm	Tu translation elongation factor, mitochondrial	gene	DOID:0111494	combined oxidative phosphorylation deficiency 4		ISO	RGD:1313566	D	RGD:7240710	20130221	OMIM			
1305501	Tufm	Tu translation elongation factor, mitochondrial	gene	DOID:0111494	combined oxidative phosphorylation deficiency 4		ISO	RGD:1313566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 | ClinVar Annotator: match by term: Combined oxidative phosphorylation defect type 4 | ClinVar Annotator: match by term: TUFM-related condition	PMID:17160893|PMID:19524667|PMID:25741868|PMID:28492532
1305501	Tufm	Tu translation elongation factor, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1313566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305501	Tufm	Tu translation elongation factor, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1313566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305501	Tufm	Tu translation elongation factor, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305501	Tufm	Tu translation elongation factor, mitochondrial	gene	DOID:3650	lactic acidosis		ISO	RGD:1313566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic Acidosis	PMID:17160893|PMID:19524667|PMID:20435138|PMID:28492532|PMID:33629572|PMID:38630895
1305501	Tufm	Tu translation elongation factor, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1313566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305501	Tufm	Tu translation elongation factor, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1313566	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305501	Tufm	Tu translation elongation factor, mitochondrial	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1313566	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868
1305501	Tufm	Tu translation elongation factor, mitochondrial	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1313566	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
1305501	Tufm	Tu translation elongation factor, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305502	Xrra1	X-ray radiation resistance associated 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305502	Xrra1	X-ray radiation resistance associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305502	Xrra1	X-ray radiation resistance associated 1	gene	DOID:1324	lung cancer		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305502	Xrra1	X-ray radiation resistance associated 1	gene	DOID:1909	melanoma		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305502	Xrra1	X-ray radiation resistance associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305502	Xrra1	X-ray radiation resistance associated 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305502	Xrra1	X-ray radiation resistance associated 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313568	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305502	Xrra1	X-ray radiation resistance associated 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305502	Xrra1	X-ray radiation resistance associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305502	Xrra1	X-ray radiation resistance associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305502	Xrra1	X-ray radiation resistance associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305504	Adck5	aarF domain containing kinase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305504	Adck5	aarF domain containing kinase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305504	Adck5	aarF domain containing kinase 5	gene	DOID:1324	lung cancer		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305504	Adck5	aarF domain containing kinase 5	gene	DOID:1909	melanoma		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305504	Adck5	aarF domain containing kinase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305504	Adck5	aarF domain containing kinase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305504	Adck5	aarF domain containing kinase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1313570	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305504	Adck5	aarF domain containing kinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305504	Adck5	aarF domain containing kinase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305504	Adck5	aarF domain containing kinase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305504	Adck5	aarF domain containing kinase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305504	Adck5	aarF domain containing kinase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305506	Ubtd2	ubiquitin domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305506	Ubtd2	ubiquitin domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305506	Ubtd2	ubiquitin domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1601834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305506	Ubtd2	ubiquitin domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1601834	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305506	Ubtd2	ubiquitin domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1601834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305506	Ubtd2	ubiquitin domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305506	Ubtd2	ubiquitin domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601834	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305506	Ubtd2	ubiquitin domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305506	Ubtd2	ubiquitin domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305508	Dhrs13	dehydrogenase/reductase 13	gene	DOID:1115	sarcoma		ISO	RGD:1603266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305508	Dhrs13	dehydrogenase/reductase 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305508	Dhrs13	dehydrogenase/reductase 13	gene	DOID:4362	cervical cancer		ISO	RGD:1603266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305508	Dhrs13	dehydrogenase/reductase 13	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305508	Dhrs13	dehydrogenase/reductase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305508	Dhrs13	dehydrogenase/reductase 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:0070210	hereditary lymphedema IA		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema of the dorsum of feet	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:11162	respiratory failure		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:1324	lung cancer		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313579	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1313579	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:9003133	Hypertelorism		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305510	Senp7	SUMO specific peptidase 7	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1305511	Ppl	periplakin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305511	Ppl	periplakin	gene	DOID:0060058	lymphoma		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305511	Ppl	periplakin	gene	DOID:10534	stomach cancer		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305511	Ppl	periplakin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305511	Ppl	periplakin	gene	DOID:1115	sarcoma		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305511	Ppl	periplakin	gene	DOID:1324	lung cancer		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305511	Ppl	periplakin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305511	Ppl	periplakin	gene	DOID:4362	cervical cancer		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305511	Ppl	periplakin	gene	DOID:5041	esophageal cancer		ISO	RGD:1313581	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305511	Ppl	periplakin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305511	Ppl	periplakin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305511	Ppl	periplakin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313581	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1305511	Ppl	periplakin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305511	Ppl	periplakin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305511	Ppl	periplakin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305512	Fam3d	FAM3 metabolism regulating signaling molecule D	gene	DOID:10534	stomach cancer		ISO	RGD:1313583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305512	Fam3d	FAM3 metabolism regulating signaling molecule D	gene	DOID:5041	esophageal cancer		ISO	RGD:1313583	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305512	Fam3d	FAM3 metabolism regulating signaling molecule D	gene	DOID:5419	schizophrenia		ISO	RGD:1313583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1305512	Fam3d	FAM3 metabolism regulating signaling molecule D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305513	Rnf31	ring finger protein 31	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305513	Rnf31	ring finger protein 31	gene	DOID:0061081	immunodeficiency 115		ISO	RGD:1348836	D	RGD:7240710	20231206	OMIM			
1305513	Rnf31	ring finger protein 31	gene	DOID:0061081	immunodeficiency 115		ISO	RGD:1348836	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION | ClinVar Annotator: match by term: RNF31-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30936877|PMID:9536098
1305513	Rnf31	ring finger protein 31	gene	DOID:10534	stomach cancer		ISO	RGD:1348836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305513	Rnf31	ring finger protein 31	gene	DOID:1909	melanoma		ISO	RGD:1348836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305513	Rnf31	ring finger protein 31	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305513	Rnf31	ring finger protein 31	gene	DOID:3070	high grade glioma		ISO	RGD:1348836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305513	Rnf31	ring finger protein 31	gene	DOID:4362	cervical cancer		ISO	RGD:1348836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305513	Rnf31	ring finger protein 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305513	Rnf31	ring finger protein 31	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305513	Rnf31	ring finger protein 31	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1348836	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1305513	Rnf31	ring finger protein 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305513	Rnf31	ring finger protein 31	gene	DOID:9007661	Dwarfism		ISO	RGD:1348836	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
1305513	Rnf31	ring finger protein 31	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:10534	stomach cancer		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:1115	sarcoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:1909	melanoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:3275	thymoma		ISO	RGD:1606423	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:4362	cervical cancer		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606423	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1606423	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305514	Patl1	PAT1 homolog 1, processing body mRNA decay factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606423	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305515	Rgs17	regulator of G-protein signaling 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305515	Rgs17	regulator of G-protein signaling 17	gene	DOID:670	amphetamine abuse		ISO	RGD:1313587	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1305515	Rgs17	regulator of G-protein signaling 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305516	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:1115	sarcoma		ISO	RGD:1313589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305516	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:1909	melanoma		ISO	RGD:1313589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305516	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:3275	thymoma		ISO	RGD:1313589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305516	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305516	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305516	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305516	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1313589	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17982127
1305516	Cables1	Cdk5 and Abl enzyme substrate 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305520	Aak1	AP2 associated kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305520	Aak1	AP2 associated kinase 1	gene	DOID:0050591	tooth agenesis		ISO	RGD:1313595	D	RGD:8554872	20200324	ClinVar		ClinVar Annotator: match by term: Tooth agenesis	
1305520	Aak1	AP2 associated kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305520	Aak1	AP2 associated kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1313595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305520	Aak1	AP2 associated kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1313595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305520	Aak1	AP2 associated kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313595	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305520	Aak1	AP2 associated kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305520	Aak1	AP2 associated kinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305520	Aak1	AP2 associated kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313595	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305520	Aak1	AP2 associated kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305520	Aak1	AP2 associated kinase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305520	Aak1	AP2 associated kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305520	Aak1	AP2 associated kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305520	Aak1	AP2 associated kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305521	Gnpda2	glucosamine-6-phosphate deaminase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305521	Gnpda2	glucosamine-6-phosphate deaminase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305521	Gnpda2	glucosamine-6-phosphate deaminase 2	gene	DOID:1909	melanoma		ISO	RGD:1313596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305521	Gnpda2	glucosamine-6-phosphate deaminase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305521	Gnpda2	glucosamine-6-phosphate deaminase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305521	Gnpda2	glucosamine-6-phosphate deaminase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305521	Gnpda2	glucosamine-6-phosphate deaminase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305521	Gnpda2	glucosamine-6-phosphate deaminase 2	gene	DOID:9007633	Body Weight		ISO	RGD:1313596	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22344219
1305521	Gnpda2	glucosamine-6-phosphate deaminase 2	gene	DOID:9970	obesity		ISO	RGD:1313596	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19079261
1305522	B9d1	B9 domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305522	B9d1	B9 domain containing 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1602004	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert Syndrome | ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:29165578|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1602004	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:17576681|PMID:21493627|PMID:25741868|PMID:25920555|PMID:26477546|PMID:28492532|PMID:29165578|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:0050778	Meckel syndrome		ISS	RGD:1313598	D	RGD:13592920	20180518	MouseDO			
1305522	B9d1	B9 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602004	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305522	B9d1	B9 domain containing 1	gene	DOID:0060340	ciliopathy		ISO	RGD:1602004	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ciliopathy	PMID:24886560|PMID:25741868|PMID:26092869|PMID:28492532|PMID:36180924
1305522	B9d1	B9 domain containing 1	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1305522	B9d1	B9 domain containing 1	gene	DOID:0061294	Meckel syndrome 9		ISO	RGD:1602004	D	RGD:7240710	20140911	OMIM			
1305522	B9d1	B9 domain containing 1	gene	DOID:0061294	Meckel syndrome 9		ISO	RGD:1602004	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: B9D1-related disorder | ClinVar Annotator: match by term: Meckel syndrome, type 9	PMID:17576681|PMID:21493627|PMID:25741868|PMID:27894351|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:17576681|PMID:21493627|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16007087|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:27123465|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:29165578|PMID:30055837|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:27854218|PMID:28492532|PMID:29165578|PMID:30055837|PMID:32622957|PMID:34906502|PMID:36180924|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:17576681|PMID:21493627|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:0110996	Joubert Syndrome 27		ISO	RGD:1602004	D	RGD:7240710	20190315	OMIM			
1305522	B9d1	B9 domain containing 1	gene	DOID:0110996	Joubert Syndrome 27		ISO	RGD:1602004	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 27 | ClinVar Annotator: match by term: Joubert syndrome 27	PMID:17576681|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:29165578|PMID:30055837|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Borderline intellectual disability	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305522	B9d1	B9 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602004	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305522	B9d1	B9 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1305522	B9d1	B9 domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305522	B9d1	B9 domain containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602004	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305522	B9d1	B9 domain containing 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098
1305522	B9d1	B9 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305522	B9d1	B9 domain containing 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1602004	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1305523	Fbxl14	F-box and leucine-rich repeat protein 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305523	Fbxl14	F-box and leucine-rich repeat protein 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305523	Fbxl14	F-box and leucine-rich repeat protein 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1313599	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:0080600	COVID-19		ISO	RGD:1601740	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1601740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1601740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1601740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1601740	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601740	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305524	Nt5dc2	5'-nucleotidase domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305525	Mllt11	MLLT11, transcription factor 7 cofactor	gene	DOID:3070	high grade glioma		ISO	RGD:1605692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305525	Mllt11	MLLT11, transcription factor 7 cofactor	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:1605692	D	RGD:11554173	20211207	CTD		CTD Direct Evidence: marker/mechanism	PMID:31587870
1305525	Mllt11	MLLT11, transcription factor 7 cofactor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305526	Arb2a	ARB2 cotranscriptional regulator A	gene	DOID:10534	stomach cancer		ISO	RGD:1605018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305526	Arb2a	ARB2 cotranscriptional regulator A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305526	Arb2a	ARB2 cotranscriptional regulator A	gene	DOID:4362	cervical cancer		ISO	RGD:1605018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305526	Arb2a	ARB2 cotranscriptional regulator A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305526	Arb2a	ARB2 cotranscriptional regulator A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305526	Arb2a	ARB2 cotranscriptional regulator A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305526	Arb2a	ARB2 cotranscriptional regulator A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1305526	Arb2a	ARB2 cotranscriptional regulator A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305526	Arb2a	ARB2 cotranscriptional regulator A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305527	Ankrd35	ankyrin repeat domain 35	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305527	Ankrd35	ankyrin repeat domain 35	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305528	Fbxl12	F-box and leucine-rich repeat protein 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305528	Fbxl12	F-box and leucine-rich repeat protein 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305528	Fbxl12	F-box and leucine-rich repeat protein 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305529	Pcnx3	pecanex 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305529	Pcnx3	pecanex 3	gene	DOID:10534	stomach cancer		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305529	Pcnx3	pecanex 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305529	Pcnx3	pecanex 3	gene	DOID:1115	sarcoma		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305529	Pcnx3	pecanex 3	gene	DOID:1324	lung cancer		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305529	Pcnx3	pecanex 3	gene	DOID:1909	melanoma		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305529	Pcnx3	pecanex 3	gene	DOID:3070	high grade glioma		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305529	Pcnx3	pecanex 3	gene	DOID:3275	thymoma		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305529	Pcnx3	pecanex 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305529	Pcnx3	pecanex 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305529	Pcnx3	pecanex 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305529	Pcnx3	pecanex 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1602160	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305529	Pcnx3	pecanex 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305529	Pcnx3	pecanex 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305529	Pcnx3	pecanex 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305529	Pcnx3	pecanex 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305529	Pcnx3	pecanex 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305529	Pcnx3	pecanex 3	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1602160	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26808113
1305529	Pcnx3	pecanex 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305530	Ccl25	C-C motif chemokine ligand 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305530	Ccl25	C-C motif chemokine ligand 25	gene	DOID:10247	pleurisy		ISO	RGD:1313609	D	RGD:5130924|PMID:18056919	20110414	RGD		protein:increased expression:pleural fluid	
1305530	Ccl25	C-C motif chemokine ligand 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305530	Ccl25	C-C motif chemokine ligand 25	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305530	Ccl25	C-C motif chemokine ligand 25	gene	DOID:9004898	Jaundice		IEP		D	RGD:5130926|PMID:18592157	20110414	RGD		mRNA:decreased expression:ileum	
1305531	Hspa12a	heat shock protein family A (Hsp70) member 12A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305531	Hspa12a	heat shock protein family A (Hsp70) member 12A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305531	Hspa12a	heat shock protein family A (Hsp70) member 12A	gene	DOID:1324	lung cancer		ISO	RGD:1313610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305531	Hspa12a	heat shock protein family A (Hsp70) member 12A	gene	DOID:1909	melanoma		ISO	RGD:1313610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305531	Hspa12a	heat shock protein family A (Hsp70) member 12A	gene	DOID:303	substance-related disorder		ISO	RGD:1313610	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1305531	Hspa12a	heat shock protein family A (Hsp70) member 12A	gene	DOID:4362	cervical cancer		ISO	RGD:1313610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305531	Hspa12a	heat shock protein family A (Hsp70) member 12A	gene	DOID:5041	esophageal cancer		ISO	RGD:1313610	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305531	Hspa12a	heat shock protein family A (Hsp70) member 12A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305531	Hspa12a	heat shock protein family A (Hsp70) member 12A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:1115	sarcoma		ISO	RGD:1313612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:11383	cryptorchidism		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:1324	lung cancer		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:9001031	Retrognathia		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:9001581	Constipation		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:9003133	Hypertelorism		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:9007661	Dwarfism		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1305532	Rbbp5	RB binding protein 5, histone lysine methyltransferase complex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170
1305533	Tbce	tubulin folding cofactor E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:0060058	lymphoma		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:0060348	hypoparathyroidism-retardation-dysmorphism syndrome		ISO	RGD:1313614	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12389028
1305533	Tbce	tubulin folding cofactor E	gene	DOID:0060348	hypoparathyroidism-retardation-dysmorphism syndrome		ISO	RGD:1313614	D	RGD:7240710	20130221	OMIM			
1305533	Tbce	tubulin folding cofactor E	gene	DOID:0060348	hypoparathyroidism-retardation-dysmorphism syndrome		ISO	RGD:1313614	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome | ClinVar Annotator: match by term: SANJAD-SAKATI SYNDROME	PMID:12389028|PMID:12389029|PMID:16199547|PMID:16938882|PMID:20152369|PMID:25097779|PMID:25741868|PMID:26231322|PMID:26336027|PMID:27666369|PMID:28492532|PMID:30080992|PMID:30638765|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|PMID:39252126
1305533	Tbce	tubulin folding cofactor E	gene	DOID:0060704	lymphoproliferative syndrome		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoproliferative disorder	PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170
1305533	Tbce	tubulin folding cofactor E	gene	DOID:0080722	Kenny-Caffey syndrome type 1		ISO	RGD:1313614	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:0080722	Kenny-Caffey syndrome type 1		ISO	RGD:1313614	D	RGD:7240710	20130221	OMIM			
1305533	Tbce	tubulin folding cofactor E	gene	DOID:0080722	Kenny-Caffey syndrome type 1		ISO	RGD:1313614	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome	PMID:12389028|PMID:16199547|PMID:20152369|PMID:25097779|PMID:25741868|PMID:26231322|PMID:26336027|PMID:27666369|PMID:28492532|PMID:30080992|PMID:30638765|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|PMID:39252126
1305533	Tbce	tubulin folding cofactor E	gene	DOID:0080723	Kenny-Caffey syndrome type 2		ISO	RGD:1313614	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12389028
1305533	Tbce	tubulin folding cofactor E	gene	DOID:104	bacterial infectious disease		ISO	RGD:1313614	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12389028
1305533	Tbce	tubulin folding cofactor E	gene	DOID:10629	microphthalmia		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:10907	microcephaly		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:11199	hypoparathyroidism		ISO	RGD:1313614	D	RGD:1599303|PMID:12389028	20070130	RGD		hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:12215	oligohydramnios		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:1324	lung cancer		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:1459	hypothyroidism		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:1686	glaucoma		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:1826	epilepsy		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:1827	generalized epilepsy		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170
1305533	Tbce	tubulin folding cofactor E	gene	DOID:1923	disorder of sexual development		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disorder of sexual differentiation	PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170
1305533	Tbce	tubulin folding cofactor E	gene	DOID:3275	thymoma		ISO	RGD:1313614	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:4254	osteosclerosis		ISO	RGD:1313614	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12389028
1305533	Tbce	tubulin folding cofactor E	gene	DOID:4362	cervical cancer		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:552	pneumonia		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170
1305533	Tbce	tubulin folding cofactor E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313614	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:630	genetic disease		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
1305533	Tbce	tubulin folding cofactor E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:718	autoimmune hemolytic anemia		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune hemolytic anemia	PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170
1305533	Tbce	tubulin folding cofactor E	gene	DOID:9001487	Facies		ISO	RGD:1313614	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12389028
1305533	Tbce	tubulin folding cofactor E	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:9001981	Weight Loss		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170
1305533	Tbce	tubulin folding cofactor E	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:1313614	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Pituitary Stalk Interruption Syndrome	PMID:25741868
1305533	Tbce	tubulin folding cofactor E	gene	DOID:9004538	Hearing Loss		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:9005242	Progressive Encephalopathy with Amyotrophy and Optic Atrophy		ISO	RGD:1313614	D	RGD:7240710	20190315	OMIM			
1305533	Tbce	tubulin folding cofactor E	gene	DOID:9005242	Progressive Encephalopathy with Amyotrophy and Optic Atrophy		ISO	RGD:1313614	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy	PMID:12389028|PMID:16199547|PMID:20152369|PMID:25097779|PMID:25741868|PMID:26231322|PMID:26336027|PMID:27666369|PMID:28492532|PMID:30080992|PMID:30638765|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170|PMID:39252126
1305533	Tbce	tubulin folding cofactor E	gene	DOID:9007661	Dwarfism		ISO	RGD:1313614	D	RGD:1599303|PMID:12389028	20070130	RGD		Kenny-Caffey syndrome, OMIM:244460	
1305533	Tbce	tubulin folding cofactor E	gene	DOID:9008707	Viremia		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Viremia	PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170
1305533	Tbce	tubulin folding cofactor E	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1313614	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12389028
1305533	Tbce	tubulin folding cofactor E	gene	DOID:9563	bronchiectasis		ISO	RGD:1313614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:38250573|PMID:39153170
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:10534	stomach cancer		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:1115	sarcoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:1324	lung cancer		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:1909	melanoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:5041	esophageal cancer		ISO	RGD:1313616	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305534	Dop1a	DOP1 leucine zipper like protein A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305535	Arl6	ARF like GTPase 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305535	Arl6	ARF like GTPase 6	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1313618	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305535	Arl6	ARF like GTPase 6	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1313618	D	RGD:7240710	20170726	OMIM			
1305535	Arl6	ARF like GTPase 6	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1313618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 1	PMID:15258860|PMID:19858128|PMID:20142850|PMID:22334370|PMID:23219996|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27486776|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:31054281|PMID:31736247|PMID:32483926|PMID:32906206|PMID:33090715|PMID:33946315|PMID:35457050
1305535	Arl6	ARF like GTPase 6	gene	DOID:0110125	Bardet-Biedl syndrome 3		ISO	RGD:1313618	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305535	Arl6	ARF like GTPase 6	gene	DOID:0110125	Bardet-Biedl syndrome 3		ISO	RGD:1313618	D	RGD:7240710	20171011	OMIM			
1305535	Arl6	ARF like GTPase 6	gene	DOID:0110125	Bardet-Biedl syndrome 3		ISO	RGD:1313618	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 3 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 3	PMID:15258860|PMID:15314642|PMID:16199547|PMID:17160889|PMID:17576681|PMID:19236846|PMID:19858128|PMID:20142850|PMID:20177705|PMID:20498079|PMID:22334370|PMID:22410627|PMID:23219996|PMID:24400638|PMID:25640679|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27383656|PMID:27486776|PMID:27708425|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:29806606|PMID:31054281|PMID:31736247|PMID:32361989|PMID:32483926|PMID:32906206|PMID:33090715|PMID:33946315|PMID:34716235|PMID:34906470|PMID:35457050|PMID:37217489|PMID:9536098
1305535	Arl6	ARF like GTPase 6	gene	DOID:0110125	Bardet-Biedl syndrome 3		ISS	RGD:1313619	D	RGD:13592920	20230718	MouseDO		OMIM:600151	
1305535	Arl6	ARF like GTPase 6	gene	DOID:0110370	retinitis pigmentosa 55		ISO	RGD:1313618	D	RGD:7240710	20130425	OMIM			
1305535	Arl6	ARF like GTPase 6	gene	DOID:0110370	retinitis pigmentosa 55		ISO	RGD:1313618	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 55 | ClinVar Annotator: match by term: Retinitis pigmentosa 55	PMID:15258860|PMID:16199547|PMID:17160889|PMID:19858128|PMID:19956407|PMID:20142850|PMID:20177705|PMID:22334370|PMID:23219996|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27486776|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:31054281|PMID:31736247|PMID:32483926|PMID:32906206|PMID:33090715|PMID:33946315|PMID:35457050|PMID:37217489
1305535	Arl6	ARF like GTPase 6	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313618	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1305535	Arl6	ARF like GTPase 6	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:17160889|PMID:20177705|PMID:23219996|PMID:25741868|PMID:26355662|PMID:27124789|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:31054281|PMID:32906206|PMID:33090715|PMID:33946315|PMID:35457050
1305535	Arl6	ARF like GTPase 6	gene	DOID:1324	lung cancer		ISO	RGD:1313618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305535	Arl6	ARF like GTPase 6	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1313618	D	RGD:1578724|PMID:15314642	20110617	RGD		DNA:missense mutations:multiple (human)	
1305535	Arl6	ARF like GTPase 6	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1313618	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ARL6-related disorder | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:15258860|PMID:15314642|PMID:16199547|PMID:17160889|PMID:19858128|PMID:20142850|PMID:20177705|PMID:22334370|PMID:22773737|PMID:23219996|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27486776|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:31054281|PMID:31736247|PMID:32483926|PMID:32531858|PMID:32906206|PMID:33090715|PMID:33946315|PMID:35457050|PMID:35886001|PMID:37217489
1305535	Arl6	ARF like GTPase 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1313618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305535	Arl6	ARF like GTPase 6	gene	DOID:5723	optic atrophy		ISO	RGD:1313618	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:34828430
1305535	Arl6	ARF like GTPase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305535	Arl6	ARF like GTPase 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305535	Arl6	ARF like GTPase 6	gene	DOID:630	genetic disease		ISO	RGD:1313618	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305535	Arl6	ARF like GTPase 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305535	Arl6	ARF like GTPase 6	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313618	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:15258860|PMID:15314642|PMID:17160889|PMID:19236846|PMID:19858128|PMID:20142850|PMID:20177705|PMID:20498079|PMID:22334370|PMID:25525159|PMID:25741868|PMID:27486776|PMID:28492532|PMID:31456290|PMID:31736247|PMID:31964843|PMID:33090715
1305535	Arl6	ARF like GTPase 6	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1313618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:15258860|PMID:16199547|PMID:19858128|PMID:20142850|PMID:22334370|PMID:25741868|PMID:27486776|PMID:28492532|PMID:31736247|PMID:38374194
1305535	Arl6	ARF like GTPase 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1313623	D	RGD:401959222|PMID:28574012	20240117	RGD		DNA:polymorphism:exon:	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1313623	D	RGD:401959307|PMID:23443985	20240118	RGD		DNA:SNP,haplotype:exon:rs1800497(human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050742	nicotine dependence		ISO	RGD:1313623	D	RGD:401959295|PMID:25273375	20240118	RGD		DNA:haplotype: :multiple	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050742	nicotine dependence	onset	ISO	RGD:1313623	D	RGD:401959296|PMID:21936764	20240118	RGD		DNA:SNP,haplotype: :rs11604671, rs4938015 (human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1313623	D	RGD:401959222|PMID:28574012	20240117	RGD		DNA:polymorphism:exon:	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1313623	D	RGD:401959232|PMID:18354387	20240117	RGD		DNA:SNP:exon:rs2734849(human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1313623	D	RGD:401959315|PMID:22382052	20240119	RGD		DNA:SNP, haplotype:exon:rs1800497(human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1313623	D	RGD:401959319|PMID:17085484	20240122	RGD		DNA:SNPs,haplotype:introns,exons:multiple	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050742	nicotine dependence	treatment	ISO	RGD:1313623	D	RGD:401959399|PMID:21540761	20240124	RGD		associated with depressive disorder;DNA:SNP:exon:rs1800497(human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:0060131	alexithymia		ISO	RGD:1313623	D	RGD:401959322|PMID:22728571	20240122	RGD		associated with Binge Drinking;DNA:SNP:exon:rs1800497(human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:0080832	mild cognitive impairment	susceptibility	ISO	RGD:1313623	D	RGD:401959397|PMID:25237117	20240124	RGD		associated with pathological gambling; DNA:SNP:exon:rs1800497(human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:11206	opioid abuse	susceptibility	ISO	RGD:1313623	D	RGD:11065747|PMID:26138154	20240117	RGD		associated with phlegm syndrome;DNA:polymorphism:exon:	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:1313623	D	RGD:401940151|PMID:32889058	20240112	RGD		DNA:polymorphism: :rs1800497(human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:1574	alcohol use disorder	severity	ISO	RGD:1313623	D	RGD:401959296|PMID:21936764	20240118	RGD		DNA:SNP,haplotype: :rs11604671, rs4938015 (human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:251	alcohol-induced mental disorder		ISO	RGD:1313623	D	RGD:401959336|PMID:18669994	20240122	RGD		DNA:SNP:exon:rs1800497(human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:1313623	D	RGD:401959309|PMID:19373123	20240118	RGD		DNA:SNP,haplotype:exon:rs1800497(human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313623	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1313623	D	RGD:401959324|PMID:23691092	20240122	RGD		DNA:SNPs,haplotype::rs11604671, rs2734849,rs1800497(human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:93	language disorder		ISO	RGD:1313623	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23691092
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:9974	drug dependence		ISO	RGD:1313623	D	RGD:401959320|PMID:18828801	20240122	RGD		associated with alcohol dependence;DNA:haplotype:exons:	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:9975	cocaine dependence	treatment	ISO	RGD:1313623	D	RGD:401959203|PMID:23635803	20240112	RGD		DNA:SNP: :rs1800497(human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:9976	heroin dependence		ISO	RGD:1313623	D	RGD:401959205|PMID:29550268	20240112	RGD		DNA:SNPs, haplotypes:intron, 3'flanking:rs11214598, rs2859545(human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:9976	heroin dependence	onset	ISO	RGD:1313623	D	RGD:401959202|PMID:28854834	20240112	RGD		DNA:SNPS:exon:rs17115439, rs7118900, rs1800497 (human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:1313623	D	RGD:401959223|PMID:23840506	20240117	RGD		DNA:SNP:exon:rs1800497(human)	
1305538	Ankk1	ankyrin repeat and kinase domain containing 1	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:1313623	D	RGD:401959304|PMID:23303482	20240118	RGD		DNA:SNPs:5'UTR,exon:rs877138, rs4938013(human)	
1305539	Cfap91	cilia and flagella associated protein 91	gene	DOID:0112273	spermatogenic failure 51		ISO	RGD:1346781	D	RGD:7240710	20210303	OMIM			
1305539	Cfap91	cilia and flagella associated protein 91	gene	DOID:0112273	spermatogenic failure 51		ISO	RGD:1346781	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CFAP91-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 51 | ClinVar Annotator: match by term: Spermatogenic failure 51	PMID:25741868
1305539	Cfap91	cilia and flagella associated protein 91	gene	DOID:10534	stomach cancer		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305539	Cfap91	cilia and flagella associated protein 91	gene	DOID:1115	sarcoma		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305539	Cfap91	cilia and flagella associated protein 91	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305539	Cfap91	cilia and flagella associated protein 91	gene	DOID:3275	thymoma		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305539	Cfap91	cilia and flagella associated protein 91	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305539	Cfap91	cilia and flagella associated protein 91	gene	DOID:5041	esophageal cancer		ISO	RGD:1346781	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305539	Cfap91	cilia and flagella associated protein 91	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305539	Cfap91	cilia and flagella associated protein 91	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305542	Fbl	fibrillarin rRNA 2'-O-methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305542	Fbl	fibrillarin rRNA 2'-O-methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305542	Fbl	fibrillarin rRNA 2'-O-methyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1313628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305542	Fbl	fibrillarin rRNA 2'-O-methyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1313628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305542	Fbl	fibrillarin rRNA 2'-O-methyltransferase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313628	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1305542	Fbl	fibrillarin rRNA 2'-O-methyltransferase	gene	DOID:417	autoimmune disease		ISO	RGD:1313628	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8738957|PMID:9693280|PMID:19077085
1305542	Fbl	fibrillarin rRNA 2'-O-methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1313628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305542	Fbl	fibrillarin rRNA 2'-O-methyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305542	Fbl	fibrillarin rRNA 2'-O-methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305542	Fbl	fibrillarin rRNA 2'-O-methyltransferase	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1313628	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1305542	Fbl	fibrillarin rRNA 2'-O-methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305542	Fbl	fibrillarin rRNA 2'-O-methyltransferase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313628	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
1305542	Fbl	fibrillarin rRNA 2'-O-methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305542	Fbl	fibrillarin rRNA 2'-O-methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305544	Cdk14	cyclin-dependent kinase 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313632	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305544	Cdk14	cyclin-dependent kinase 14	gene	DOID:1324	lung cancer		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305544	Cdk14	cyclin-dependent kinase 14	gene	DOID:1909	melanoma		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305544	Cdk14	cyclin-dependent kinase 14	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305544	Cdk14	cyclin-dependent kinase 14	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305544	Cdk14	cyclin-dependent kinase 14	gene	DOID:4362	cervical cancer		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305544	Cdk14	cyclin-dependent kinase 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305544	Cdk14	cyclin-dependent kinase 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305544	Cdk14	cyclin-dependent kinase 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1313632	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305544	Cdk14	cyclin-dependent kinase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305544	Cdk14	cyclin-dependent kinase 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313632	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22922871
1305544	Cdk14	cyclin-dependent kinase 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305544	Cdk14	cyclin-dependent kinase 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305545	Metap1	methionyl aminopeptidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305545	Metap1	methionyl aminopeptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305545	Metap1	methionyl aminopeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305545	Metap1	methionyl aminopeptidase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1313634	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:32764695
1305545	Metap1	methionyl aminopeptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1313634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305545	Metap1	methionyl aminopeptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1313634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305545	Metap1	methionyl aminopeptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305545	Metap1	methionyl aminopeptidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305545	Metap1	methionyl aminopeptidase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305545	Metap1	methionyl aminopeptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305545	Metap1	methionyl aminopeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305545	Metap1	methionyl aminopeptidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:0112104	Sotos syndrome 3		ISO	RGD:1313637	D	RGD:11055469|PMID:25753423	20190710	RGD			
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:12449	aplastic anemia		ISO	RGD:1313636	D	RGD:14696669|PMID:28968996	20190710	RGD		protein:decreased expression:bone marrow (human)	
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1313636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:1405	primary angle-closure glaucoma		ISO	RGD:1313636	D	RGD:14696671|PMID:29332228	20190710	RGD		protein:increased expression:aqueous humor of eyeball (human)	
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1313636	D	RGD:14696682|PMID:12036940	20190711	RGD		mRNA:decreased expression:lung (human)	
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313636	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:5386	lung adenoma		ISO	RGD:1313636	D	RGD:10047051|PMID:14647414	20190711	RGD		mRNA:decreased expression:lung (human)	
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1313636	D	RGD:14696679|PMID:25724728	20190711	RGD		protein:increased expression:serum (human)	
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1313637	D	RGD:14696672|PMID:21191042	20190710	RGD			
1305546	Anapc2	anaphase promoting complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313636	D	RGD:11067888|PMID:26046517	20190710	RGD		mRNA:increased expression:blood (human)	
1305547	Ints2	integrator complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305547	Ints2	integrator complex subunit 2	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1606257	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Exstrophy-epispadias complex	PMID:25741868
1305547	Ints2	integrator complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305547	Ints2	integrator complex subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1606257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305547	Ints2	integrator complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1606257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305547	Ints2	integrator complex subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1606257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305547	Ints2	integrator complex subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1606257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305547	Ints2	integrator complex subunit 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305547	Ints2	integrator complex subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606257	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305547	Ints2	integrator complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305547	Ints2	integrator complex subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305547	Ints2	integrator complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305547	Ints2	integrator complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305547	Ints2	integrator complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305548	Stac2	SH3 and cysteine rich domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1313639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305548	Stac2	SH3 and cysteine rich domain 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305548	Stac2	SH3 and cysteine rich domain 2	gene	DOID:9002189	High Myopia		ISO	RGD:1313639	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1305548	Stac2	SH3 and cysteine rich domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305548	Stac2	SH3 and cysteine rich domain 2	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1313639	D	RGD:8554872	20151208	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
1305549	Ms4a7	membrane spanning 4-domains A7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305549	Ms4a7	membrane spanning 4-domains A7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305549	Ms4a7	membrane spanning 4-domains A7	gene	DOID:1324	lung cancer		ISO	RGD:1313641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305549	Ms4a7	membrane spanning 4-domains A7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313641	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305549	Ms4a7	membrane spanning 4-domains A7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305549	Ms4a7	membrane spanning 4-domains A7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305549	Ms4a7	membrane spanning 4-domains A7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:10534	stomach cancer		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:1324	lung cancer		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:1909	melanoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:2394	ovarian cancer		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:4362	cervical cancer		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1313642	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305550	Eps15	epidermal growth factor receptor pathway substrate 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305551	Rassf2	Ras association domain family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305551	Rassf2	Ras association domain family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1313644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305551	Rassf2	Ras association domain family member 2	gene	DOID:1909	melanoma		ISO	RGD:1313644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305551	Rassf2	Ras association domain family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313644	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305551	Rassf2	Ras association domain family member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305551	Rassf2	Ras association domain family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305551	Rassf2	Ras association domain family member 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1313644	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013896
1305551	Rassf2	Ras association domain family member 2	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:1313644	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013896
1305551	Rassf2	Ras association domain family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305552	Med8	mediator complex subunit 8	gene	DOID:10534	stomach cancer		ISO	RGD:1313646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305552	Med8	mediator complex subunit 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305552	Med8	mediator complex subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305552	Med8	mediator complex subunit 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1313646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305552	Med8	mediator complex subunit 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305552	Med8	mediator complex subunit 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305552	Med8	mediator complex subunit 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305553	Telo2	telomere maintenance 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305553	Telo2	telomere maintenance 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305553	Telo2	telomere maintenance 2	gene	DOID:10907	microcephaly		ISO	RGD:1605097	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1305553	Telo2	telomere maintenance 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305553	Telo2	telomere maintenance 2	gene	DOID:1324	lung cancer		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305553	Telo2	telomere maintenance 2	gene	DOID:1826	epilepsy		ISO	RGD:126735466|RGD:156439480	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:28492532
1305553	Telo2	telomere maintenance 2	gene	DOID:1909	melanoma		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305553	Telo2	telomere maintenance 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305553	Telo2	telomere maintenance 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305553	Telo2	telomere maintenance 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305553	Telo2	telomere maintenance 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305553	Telo2	telomere maintenance 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605097	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305553	Telo2	telomere maintenance 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305553	Telo2	telomere maintenance 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305553	Telo2	telomere maintenance 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305553	Telo2	telomere maintenance 2	gene	DOID:630	genetic disease		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33149276|PMID:36797513|PMID:9536098
1305553	Telo2	telomere maintenance 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1305553	Telo2	telomere maintenance 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305553	Telo2	telomere maintenance 2	gene	DOID:9008826	YOU-HOOVER-FONG SYNDROME		ISO	RGD:1605097	D	RGD:7240710	20190315	OMIM			
1305553	Telo2	telomere maintenance 2	gene	DOID:9008826	YOU-HOOVER-FONG SYNDROME		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: TELO2-related condition | ClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorder | ClinVar Annotator: match by term: YOU-HOOVER-FONG SYNDROME | ClinVar Annotator: match by term: You-Hoover-Fong syndrome	PMID:17576681|PMID:24033266|PMID:25741868|PMID:27132593|PMID:28492532|PMID:32940098|PMID:33057194|PMID:33149276|PMID:36797513|PMID:9536098
1305553	Telo2	telomere maintenance 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305553	Telo2	telomere maintenance 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305556	Nelfa	negative elongation factor complex member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305556	Nelfa	negative elongation factor complex member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313651	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305556	Nelfa	negative elongation factor complex member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305556	Nelfa	negative elongation factor complex member A	gene	DOID:4362	cervical cancer		ISO	RGD:1313651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305556	Nelfa	negative elongation factor complex member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305556	Nelfa	negative elongation factor complex member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305556	Nelfa	negative elongation factor complex member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305557	Tmem59l	transmembrane protein 59-like	gene	DOID:1115	sarcoma		ISO	RGD:1313653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305557	Tmem59l	transmembrane protein 59-like	gene	DOID:5119	ovarian cyst		ISO	RGD:1313653	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
1305557	Tmem59l	transmembrane protein 59-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305557	Tmem59l	transmembrane protein 59-like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313653	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305557	Tmem59l	transmembrane protein 59-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305558	Ttk	Ttk protein kinase	gene	DOID:0080600	COVID-19		ISO	RGD:1313655	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305558	Ttk	Ttk protein kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305558	Ttk	Ttk protein kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305558	Ttk	Ttk protein kinase	gene	DOID:1115	sarcoma		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305558	Ttk	Ttk protein kinase	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1313655	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1305558	Ttk	Ttk protein kinase	gene	DOID:1324	lung cancer		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305558	Ttk	Ttk protein kinase	gene	DOID:1909	melanoma		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305558	Ttk	Ttk protein kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305558	Ttk	Ttk protein kinase	gene	DOID:3275	thymoma		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305558	Ttk	Ttk protein kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305558	Ttk	Ttk protein kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305558	Ttk	Ttk protein kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305558	Ttk	Ttk protein kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1313655	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305558	Ttk	Ttk protein kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305558	Ttk	Ttk protein kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305558	Ttk	Ttk protein kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313655	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1305558	Ttk	Ttk protein kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305558	Ttk	Ttk protein kinase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1313655	D	RGD:153344586|PMID:35693827	20220829	RGD		mRNA:increased expression:liver (human)	
1305558	Ttk	Ttk protein kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305558	Ttk	Ttk protein kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:1313655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305559	Adgrg5	adhesion G protein-coupled receptor G5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305559	Adgrg5	adhesion G protein-coupled receptor G5	gene	DOID:10534	stomach cancer		ISO	RGD:1313657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305559	Adgrg5	adhesion G protein-coupled receptor G5	gene	DOID:1909	melanoma		ISO	RGD:1313657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305559	Adgrg5	adhesion G protein-coupled receptor G5	gene	DOID:3275	thymoma		ISO	RGD:1313657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305559	Adgrg5	adhesion G protein-coupled receptor G5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305559	Adgrg5	adhesion G protein-coupled receptor G5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305559	Adgrg5	adhesion G protein-coupled receptor G5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305561	Satb1	SATB homeobox 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305561	Satb1	SATB homeobox 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305561	Satb1	SATB homeobox 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313660	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1305561	Satb1	SATB homeobox 1	gene	DOID:0061249	familial hyperaldosteronism II		ISO	RGD:1313660	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPERALDOSTERONISM, FAMILIAL, TYPE II	
1305561	Satb1	SATB homeobox 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305561	Satb1	SATB homeobox 1	gene	DOID:1059	intellectual disability		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1305561	Satb1	SATB homeobox 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1305561	Satb1	SATB homeobox 1	gene	DOID:12849	autistic disorder		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1305561	Satb1	SATB homeobox 1	gene	DOID:12894	Sjogren's syndrome		ISS	RGD:1313661	D	RGD:13592920	20220616	MouseDO		OMIM:270150	
1305561	Satb1	SATB homeobox 1	gene	DOID:1826	epilepsy		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1305561	Satb1	SATB homeobox 1	gene	DOID:1909	melanoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305561	Satb1	SATB homeobox 1	gene	DOID:3070	high grade glioma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305561	Satb1	SATB homeobox 1	gene	DOID:3275	thymoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305561	Satb1	SATB homeobox 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305561	Satb1	SATB homeobox 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313660	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1305561	Satb1	SATB homeobox 1	gene	DOID:4189	mutism		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	PMID:28492532
1305561	Satb1	SATB homeobox 1	gene	DOID:543	dystonia		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:28492532
1305561	Satb1	SATB homeobox 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305561	Satb1	SATB homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305561	Satb1	SATB homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1313660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:33513338
1305561	Satb1	SATB homeobox 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305561	Satb1	SATB homeobox 1	gene	DOID:9000289	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES		ISO	RGD:1313660	D	RGD:7240710	20210414	OMIM			
1305561	Satb1	SATB homeobox 1	gene	DOID:9000289	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES | ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies | ClinVar Annotator: match by term: SATB1-related condition	PMID:25741868|PMID:28492532|PMID:33513338
1305561	Satb1	SATB homeobox 1	gene	DOID:9000495	Tremor		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:28492532
1305561	Satb1	SATB homeobox 1	gene	DOID:9003563	KOHLSCHUTTER-TONZ SYNDROME-LIKE		ISO	RGD:1313660	D	RGD:7240710	20210414	OMIM			
1305561	Satb1	SATB homeobox 1	gene	DOID:9003563	KOHLSCHUTTER-TONZ SYNDROME-LIKE		ISO	RGD:1313660	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEN HOED-DE BOER-VOISIN SYNDROME | ClinVar Annotator: match by term: Kohlschutter-Tonz syndrome-like	PMID:16371359|PMID:17652321|PMID:25741868|PMID:27462121|PMID:33513338|PMID:34782754
1305561	Satb1	SATB homeobox 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313660	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1305561	Satb1	SATB homeobox 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1313660	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1305561	Satb1	SATB homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305561	Satb1	SATB homeobox 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868
1305561	Satb1	SATB homeobox 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305562	Xpot	exportin for tRNA	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305562	Xpot	exportin for tRNA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305562	Xpot	exportin for tRNA	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1313662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1305562	Xpot	exportin for tRNA	gene	DOID:10534	stomach cancer		ISO	RGD:1313662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305562	Xpot	exportin for tRNA	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305562	Xpot	exportin for tRNA	gene	DOID:1115	sarcoma		ISO	RGD:1313662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305562	Xpot	exportin for tRNA	gene	DOID:1324	lung cancer		ISO	RGD:1313662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305562	Xpot	exportin for tRNA	gene	DOID:1909	melanoma		ISO	RGD:1313662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305562	Xpot	exportin for tRNA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305562	Xpot	exportin for tRNA	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313662	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305562	Xpot	exportin for tRNA	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305562	Xpot	exportin for tRNA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305562	Xpot	exportin for tRNA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305562	Xpot	exportin for tRNA	gene	DOID:9256	colorectal cancer		ISO	RGD:1313662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305563	Cpa2	carboxypeptidase A2	gene	DOID:10534	stomach cancer		ISO	RGD:1313664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305563	Cpa2	carboxypeptidase A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305563	Cpa2	carboxypeptidase A2	gene	DOID:9002669	Hypoxia		ISO	RGD:1313664	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579223
1305564	Klhl7	kelch-like family member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305564	Klhl7	kelch-like family member 7	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1313665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:19520207|PMID:20547956|PMID:21828050|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31456290|PMID:31856884|PMID:33576794|PMID:35052694|PMID:36460718|PMID:36819107
1305564	Klhl7	kelch-like family member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305564	Klhl7	kelch-like family member 7	gene	DOID:0060260	ptosis		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:0060294	cold-induced sweating syndrome		ISO	RGD:1313665	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1305564	Klhl7	kelch-like family member 7	gene	DOID:0080331	cold-induced sweating syndrome 3		ISO	RGD:1313665	D	RGD:7240710	20190315	OMIM			
1305564	Klhl7	kelch-like family member 7	gene	DOID:0080331	cold-induced sweating syndrome 3		ISO	RGD:1313665	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: KLHL7-related condition | ClinVar Annotator: match by term: PERCHING SYNDROME | ClinVar Annotator: match by term: PERCHING syndrome	PMID:18414213|PMID:21828050|PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:30997404|PMID:31953236|PMID:35670385|PMID:35699517
1305564	Klhl7	kelch-like family member 7	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:0110386	retinitis pigmentosa 42		ISO	RGD:1313665	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1305564	Klhl7	kelch-like family member 7	gene	DOID:0110386	retinitis pigmentosa 42		ISO	RGD:1313665	D	RGD:7240710	20130425	OMIM			
1305564	Klhl7	kelch-like family member 7	gene	DOID:0110386	retinitis pigmentosa 42		ISO	RGD:1313665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 42 | ClinVar Annotator: match by term: Retinitis pigmentosa 42	PMID:19520207|PMID:20547956|PMID:21828050|PMID:22084217|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31456290|PMID:31856884|PMID:33576794|PMID:35052694|PMID:36460718|PMID:36819107
1305564	Klhl7	kelch-like family member 7	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313665	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:19520207|PMID:21828050|PMID:25741868|PMID:27160483|PMID:28041643|PMID:28492532|PMID:31856884|PMID:32581362|PMID:34906470
1305564	Klhl7	kelch-like family member 7	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313665	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:19520207|PMID:20547956|PMID:21828050|PMID:25741868|PMID:27160483|PMID:28041643|PMID:28492532|PMID:28559085|PMID:31456290|PMID:31856884|PMID:32531858|PMID:32581362|PMID:33576794|PMID:34906470|PMID:35052694|PMID:36460718|PMID:36819107
1305564	Klhl7	kelch-like family member 7	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:19520207|PMID:20547956|PMID:21828050|PMID:25741868|PMID:27160483|PMID:28041643|PMID:28492532|PMID:28559085|PMID:31456290|PMID:31856884|PMID:32581362|PMID:33576794|PMID:34906470|PMID:35052694|PMID:36460718|PMID:36819107|PMID:37510321
1305564	Klhl7	kelch-like family member 7	gene	DOID:1059	intellectual disability		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:10907	microcephaly		ISO	RGD:1313665	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:30997404|PMID:31953236|PMID:35670385
1305564	Klhl7	kelch-like family member 7	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:13620	patent foramen ovale		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:1686	glaucoma		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:1826	epilepsy		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:255	hemangioma		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:3275	thymoma		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305564	Klhl7	kelch-like family member 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305564	Klhl7	kelch-like family member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1313665	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305564	Klhl7	kelch-like family member 7	gene	DOID:543	dystonia		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305564	Klhl7	kelch-like family member 7	gene	DOID:630	genetic disease		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:674	cleft palate		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:19520207|PMID:20547956|PMID:21828050|PMID:25741868|PMID:27392078|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31456290|PMID:31856884|PMID:31953236|PMID:32037395|PMID:32531858|PMID:32581362|PMID:33576794|PMID:35052694|PMID:36460718|PMID:36819107
1305564	Klhl7	kelch-like family member 7	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17576681|PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236|PMID:35670385|PMID:9536098
1305564	Klhl7	kelch-like family member 7	gene	DOID:9001582	Bohring Syndrome		ISO	RGD:1313665	D	RGD:8554872	20191112	ClinVar		ClinVar Annotator: match by term: C-like syndrome	PMID:25741868
1305564	Klhl7	kelch-like family member 7	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:9003133	Hypertelorism		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:9005616	Micrognathism		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:30997404|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21828050|PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305564	Klhl7	kelch-like family member 7	gene	DOID:9993	hypoglycemia		ISO	RGD:1313665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:31953236
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:1115	sarcoma		ISO	RGD:1313667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:1324	lung cancer		ISO	RGD:1313667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:1697	ichthyosis		ISO	RGD:1313667	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19145458
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:3275	thymoma		ISO	RGD:1313667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:5041	esophageal cancer		ISO	RGD:1313667	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:9001946	Skin Abnormalities		ISO	RGD:1313667	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19145458
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:9008824	Sarcopenia		ISO	RGD:1313667	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19145458
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305565	Supv3l1	Suv3 like RNA helicase	gene	DOID:987	alopecia		ISO	RGD:1313667	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19145458
1305566	Upp1	uridine phosphorylase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305566	Upp1	uridine phosphorylase 1	gene	DOID:0060496	respiratory allergy		ISO	RGD:1313669	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24211530
1305566	Upp1	uridine phosphorylase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305566	Upp1	uridine phosphorylase 1	gene	DOID:1324	lung cancer		ISO	RGD:1313669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305566	Upp1	uridine phosphorylase 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1313669	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1305566	Upp1	uridine phosphorylase 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1313669	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
1305566	Upp1	uridine phosphorylase 1	gene	DOID:3525	middle cerebral artery infarction		IEP		D	RGD:2317094|PMID:18457515	20110610	RGD		mRNA, protein:increased expression:brain (rat)	
1305566	Upp1	uridine phosphorylase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305566	Upp1	uridine phosphorylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305566	Upp1	uridine phosphorylase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305566	Upp1	uridine phosphorylase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305566	Upp1	uridine phosphorylase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305567	Lrfn3	leucine rich repeat and fibronectin type III domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305567	Lrfn3	leucine rich repeat and fibronectin type III domain containing 3	gene	DOID:0080600	COVID-19		ISO	RGD:1313671	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305567	Lrfn3	leucine rich repeat and fibronectin type III domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305567	Lrfn3	leucine rich repeat and fibronectin type III domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305567	Lrfn3	leucine rich repeat and fibronectin type III domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305567	Lrfn3	leucine rich repeat and fibronectin type III domain containing 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1313671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1305568	Pax2	paired box 2	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1313673	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868|PMID:35005812
1305568	Pax2	paired box 2	gene	DOID:0080206	congenital anomalies of the kidney and urinary tract 1		ISO	RGD:1313673	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1	PMID:22213154|PMID:25741868|PMID:32203253|PMID:34217267
1305568	Pax2	paired box 2	gene	DOID:0090006	renal coloboma syndrome		ISO	RGD:1313673	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305568	Pax2	paired box 2	gene	DOID:0090006	renal coloboma syndrome		ISO	RGD:1313673	D	RGD:7240710	20130221	OMIM			
1305568	Pax2	paired box 2	gene	DOID:0090006	renal coloboma syndrome		ISO	RGD:1313673	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAKUT WITH OR WITHOUT OCULAR ABNORMALITIES | ClinVar Annotator: match by term: Coloboma of optic nerve with renal disease | ClinVar Annotator: match by term: PAPILLORENAL SYNDROME | ClinVar Annotator: match by term: PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES | ClinVar Annotator: match by term: PAX2-related condition | ClinVar Annotator: match by term: Papillorenal syndrome | ClinVar Annotator: match by term: Renal coloboma syndrome	PMID:10466411|PMID:10533062|PMID:11093271|PMID:11461952|PMID:15652857|PMID:17576681|PMID:20221250|PMID:20301624|PMID:21108633|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:27657687|PMID:28492532|PMID:28566479|PMID:29973660|PMID:30076350|PMID:30241513|PMID:3077329|PMID:30773290|PMID:30937553|PMID:31001663|PMID:31060108|PMID:31576025|PMID:31692565|PMID:32164334|PMID:32203253|PMID:32776440|PMID:33532864|PMID:34059960|PMID:34696790|PMID:35444690|PMID:35574290|PMID:36549658|PMID:8589702|PMID:9536098|PMID:9760197
1305568	Pax2	paired box 2	gene	DOID:0090006	renal coloboma syndrome		ISS	RGD:1313674	D	RGD:13592920	20230718	MouseDO		OMIM:120330	
1305568	Pax2	paired box 2	gene	DOID:0111101	renal cysts and diabetes syndrome		ISO	RGD:1313673	D	RGD:8554872	20170307	ClinVar		ClinVar Annotator: match by term: Renal cysts and diabetes syndrome	PMID:27657687
1305568	Pax2	paired box 2	gene	DOID:0111132	focal segmental glomerulosclerosis 7		ISO	RGD:1313673	D	RGD:7240710	20170222	OMIM			
1305568	Pax2	paired box 2	gene	DOID:0111132	focal segmental glomerulosclerosis 7		ISO	RGD:1313673	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 | ClinVar Annotator: match by term: PAX2-Related Disorder | ClinVar Annotator: match by term: PAX2-related disorder | ClinVar Annotator: match by term: focal segmental glomerulosclerosis 7	PMID:1093271|PMID:11461952|PMID:16199547|PMID:17576681|PMID:2|PMID:20221250|PMID:20301624|PMID:20358591|PMID:21380624|PMID:22213154|PMID:24429398|PMID:24676634|PMID:25640679|PMID:25741868|PMID:28492532|PMID:28518168|PMID:28566479|PMID:29194579|PMID:30348286|PMID:30773290|PMID:31027891|PMID:31060108|PMID:31328266|PMID:31937884|PMID:32203253|PMID:32461654|PMID:32604935|PMID:32776440|PMID:33226606|PMID:33712733|PMID:33997468|PMID:34031707|PMID:34059960|PMID:34696790|PMID:34979951|PMID:35444690|PMID:36549658|PMID:36938085|PMID:7795640|PMID:9536098|PMID:9760197
1305568	Pax2	paired box 2	gene	DOID:1074	kidney failure		ISO	RGD:1313673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:20221250|PMID:22213154|PMID:25741868|PMID:28492532|PMID:35444690|PMID:9760197
1305568	Pax2	paired box 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1313673	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	
1305568	Pax2	paired box 2	gene	DOID:12270	coloboma		ISO	RGD:1313673	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:25741868
1305568	Pax2	paired box 2	gene	DOID:12577	urethral obstruction		ISO	RGD:1313673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Urethral obstruction	PMID:20221250|PMID:22213154|PMID:25741868|PMID:28492532|PMID:35444690|PMID:9760197
1305568	Pax2	paired box 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1313673	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1305568	Pax2	paired box 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:31001663
1305568	Pax2	paired box 2	gene	DOID:2154	nephroblastoma		IEP		D	RGD:2316757|PMID:7937920	20100222	RGD		mRNA:increased expression:kidney	
1305568	Pax2	paired box 2	gene	DOID:2154	nephroblastoma		ISO	RGD:1313673	D	RGD:2316755|PMID:12057921	20100222	RGD		mRNA:increased expression:kidney	
1305568	Pax2	paired box 2	gene	DOID:289	endometriosis		ISO	RGD:1313673	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22473392
1305568	Pax2	paired box 2	gene	DOID:2975	cystic kidney disease		ISO	RGD:1313673	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Cystic kidney disease	
1305568	Pax2	paired box 2	gene	DOID:5176	renal Wilms' tumor		ISO	RGD:1313673	D	RGD:155631277|PMID:18467665	20221031	RGD		human tumor in mouse model	
1305568	Pax2	paired box 2	gene	DOID:5723	optic atrophy		ISO	RGD:1313673	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1305568	Pax2	paired box 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305568	Pax2	paired box 2	gene	DOID:576	proteinuria		ISO	RGD:1313673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:20221250|PMID:22213154|PMID:25741868|PMID:28492532|PMID:35444690|PMID:9760197
1305568	Pax2	paired box 2	gene	DOID:630	genetic disease		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21380624|PMID:25741868|PMID:28492532|PMID:30348286|PMID:31937884|PMID:34059960|PMID:34215756|PMID:34696790|PMID:36549658
1305568	Pax2	paired box 2	gene	DOID:783	end stage renal disease		ISO	RGD:1313673	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16631587
1305568	Pax2	paired box 2	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:1313673	D	RGD:155631310|PMID:33298161	20221101	RGD		human cells in rat model	
1305568	Pax2	paired box 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1305568	Pax2	paired box 2	gene	DOID:9002165	Diabetic Nephropathies		IEP		D	RGD:2316747|PMID:15149326	20100219	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney cortex	
1305568	Pax2	paired box 2	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:1313673	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
1305568	Pax2	paired box 2	gene	DOID:9004303	Tubulointerstitial Fibrosis		ISO	RGD:1313673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Renal interstitial fibrosis	PMID:20221250|PMID:22213154|PMID:25741868|PMID:28492532|PMID:35444690|PMID:9760197
1305568	Pax2	paired box 2	gene	DOID:9006223	Kidney Reperfusion Injury		IEP		D	RGD:727468|PMID:12444203	20100222	RGD		mRNA, protein:increased expression:kidney	
1305568	Pax2	paired box 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305569	Arl5b	ARF like GTPase 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305569	Arl5b	ARF like GTPase 5B	gene	DOID:0080600	COVID-19		ISO	RGD:1313675	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1305569	Arl5b	ARF like GTPase 5B	gene	DOID:1115	sarcoma		ISO	RGD:1313675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305569	Arl5b	ARF like GTPase 5B	gene	DOID:1909	melanoma		ISO	RGD:1313675	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1305569	Arl5b	ARF like GTPase 5B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305569	Arl5b	ARF like GTPase 5B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305569	Arl5b	ARF like GTPase 5B	gene	DOID:5041	esophageal cancer		ISO	RGD:1313675	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305569	Arl5b	ARF like GTPase 5B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305569	Arl5b	ARF like GTPase 5B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305569	Arl5b	ARF like GTPase 5B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305569	Arl5b	ARF like GTPase 5B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305569	Arl5b	ARF like GTPase 5B	gene	DOID:9256	colorectal cancer		ISO	RGD:1313675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:0050440	familial partial lipodystrophy		ISS	RGD:1313678	D	RGD:13592920	20180518	MouseDO		OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238	
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:0060762	restrictive dermopathy		ISO	RGD:1313677	D	RGD:10043097|PMID:16297189	20150513	RGD		DNA:duplication:exon:c.591dupT (human)	
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:0060762	restrictive dermopathy		ISO	RGD:1313677	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: marker/mechanism	
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:0060762	restrictive dermopathy		ISO	RGD:1313677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy	PMID:16297189|PMID:19504603|PMID:22718200|PMID:24169522|PMID:25741868|PMID:28492532
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:0070369	restrictive dermopathy 1		ISO	RGD:1313677	D	RGD:7240710	20230505	OMIM			
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:0070369	restrictive dermopathy 1		ISO	RGD:1313677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Restrictive dermopathy 1 | ClinVar Annotator: match by term: ZMPSTE24-related disorder	PMID:22718200|PMID:25741868|PMID:28492532|PMID:36386051
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:0081129	mandibuloacral dysplasia type B lipodystrophy		ISO	RGD:1313677	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:0081129	mandibuloacral dysplasia type B lipodystrophy		ISO	RGD:1313677	D	RGD:7240710	20130221	OMIM			
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:0081129	mandibuloacral dysplasia type B lipodystrophy		ISO	RGD:1313677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lipodystrophy, type B, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar Annotator: match by term: ZMPSTE24-related condition	PMID:17576681|PMID:18435794|PMID:18671782|PMID:20814950|PMID:22718200|PMID:24169522|PMID:25741868|PMID:28492532|PMID:9536098
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:10534	stomach cancer		ISO	RGD:1313677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISS	RGD:1313678	D	RGD:13592920	20180518	MouseDO		OMIM:181350 | OMIM:300696 | OMIM:310300 | OMIM:612998 | OMIM:612999 | OMIM:614302	
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1313677	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17152860
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:3275	thymoma		ISO	RGD:1313677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:3911	progeria		ISO	RGD:1313677	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23217256
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:3911	progeria		ISS	RGD:1313678	D	RGD:13592920	20230718	MouseDO		OMIM:176670	
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:630	genetic disease		ISO	RGD:1313677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:811	lipodystrophy		ISO	RGD:1313677	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12913070
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:811	lipodystrophy		ISO	RGD:1313678	D	RGD:10043099|PMID:21828285	20150513	RGD			
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:9001402	Acro-Osteolysis		ISO	RGD:1313677	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12913070|PMID:17152860
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:9002644	Premature Aging		ISO	RGD:1313678	D	RGD:10043096|PMID:19014358	20150513	RGD			
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:9006105	Craniomandibular Disorders		ISO	RGD:1313678	D	RGD:10043096|PMID:19014358	20150513	RGD			
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:9006309	Mandibular Diseases		ISO	RGD:1313677	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12913070
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1313677	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17152860
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:9008856	HIV-Associated Lipodystrophy Syndrome		ISO	RGD:1313677	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18230615
1305570	Zmpste24	zinc metallopeptidase STE24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305571	Cnnm4	cyclin and CBS domain divalent metal cation transport mediator 4	gene	DOID:0111404	Jalili syndrome		ISO	RGD:1313679	D	RGD:7240710	20200228	OMIM			
1305571	Cnnm4	cyclin and CBS domain divalent metal cation transport mediator 4	gene	DOID:0111404	Jalili syndrome		ISO	RGD:1313679	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CNNM4-related condition | ClinVar Annotator: match by term: JALILI SYNDROME | ClinVar Annotator: match by term: Jalili syndrome	PMID:19200525|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29421294
1305571	Cnnm4	cyclin and CBS domain divalent metal cation transport mediator 4	gene	DOID:10534	stomach cancer		ISO	RGD:1313679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305571	Cnnm4	cyclin and CBS domain divalent metal cation transport mediator 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:28492532|PMID:34906470
1305571	Cnnm4	cyclin and CBS domain divalent metal cation transport mediator 4	gene	DOID:1115	sarcoma		ISO	RGD:1313679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305571	Cnnm4	cyclin and CBS domain divalent metal cation transport mediator 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305571	Cnnm4	cyclin and CBS domain divalent metal cation transport mediator 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305571	Cnnm4	cyclin and CBS domain divalent metal cation transport mediator 4	gene	DOID:630	genetic disease		ISO	RGD:1313679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305571	Cnnm4	cyclin and CBS domain divalent metal cation transport mediator 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305571	Cnnm4	cyclin and CBS domain divalent metal cation transport mediator 4	gene	DOID:8466	retinal degeneration		ISO	RGD:1313679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: retinal degeneration	PMID:25741868
1305571	Cnnm4	cyclin and CBS domain divalent metal cation transport mediator 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:19200525|PMID:23362848|PMID:25741868|PMID:28492532
1305571	Cnnm4	cyclin and CBS domain divalent metal cation transport mediator 4	gene	DOID:9001979	Amaurosis Hypertrichosis		ISO	RGD:1313679	D	RGD:11554173	20181009	CTD		CTD Direct Evidence: marker/mechanism	
1305571	Cnnm4	cyclin and CBS domain divalent metal cation transport mediator 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305572	Sde2	spliceosome associated SDE2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305572	Sde2	spliceosome associated SDE2	gene	DOID:10534	stomach cancer		ISO	RGD:1603354	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305572	Sde2	spliceosome associated SDE2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305572	Sde2	spliceosome associated SDE2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603354	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305572	Sde2	spliceosome associated SDE2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305573	Rpl38	ribosomal protein L38	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305573	Rpl38	ribosomal protein L38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305573	Rpl38	ribosomal protein L38	gene	DOID:10534	stomach cancer		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305573	Rpl38	ribosomal protein L38	gene	DOID:10754	otitis media		ISS	RGD:1313683	D	RGD:13592920	20180518	MouseDO		OMIM:166760	
1305573	Rpl38	ribosomal protein L38	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305573	Rpl38	ribosomal protein L38	gene	DOID:1324	lung cancer		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305573	Rpl38	ribosomal protein L38	gene	DOID:1909	melanoma		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305573	Rpl38	ribosomal protein L38	gene	DOID:3275	thymoma		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305573	Rpl38	ribosomal protein L38	gene	DOID:4362	cervical cancer		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305573	Rpl38	ribosomal protein L38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305573	Rpl38	ribosomal protein L38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0050425	restless legs syndrome		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Restless legs	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0050591	tooth agenesis		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligodontia	PMID:21855841|PMID:22819058|PMID:25339210|PMID:25741868|PMID:28492532|PMID:30898877|PMID:32600288
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0050952	spastic ataxia		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31637490|PMID:31855841|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic pancreatitis	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0060249	scoliosis		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0060789	hypomyelinating leukodystrophy 4		ISO	RGD:1351863	D	RGD:8554872	20181206	ClinVar		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4	PMID:29389947
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0060794	hypomyelinating leukodystrophy 7		ISO	RGD:1351863	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0060794	hypomyelinating leukodystrophy 7		ISO	RGD:1351863	D	RGD:7240710	20141015	OMIM			
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0060794	hypomyelinating leukodystrophy 7		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HLD7 | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 | ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | ClinVar Annotator: match by term: POLR3A-related condition | ClinVar Annotator: match by term: POLR3A-related disorder	PMID:16199547|PMID:17576681|PMID:21855841|PMID:22036171|PMID:22451160|PMID:22819058|PMID:22855961|PMID:23283657|PMID:23355746|PMID:23694757|PMID:23965854|PMID:25339210|PMID:25741868|PMID:26096995|PMID:26752647|PMID:27029625|PMID:27506977|PMID:27521716|PMID:27535217|PMID:27612211|PMID:28334938|PMID:28407788|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29451896|PMID:29618326|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30838315|PMID:30847471|PMID:30898877|PMID:31438894|PMID:31637490|PMID:31855841|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32483275|PMID:32582862|PMID:32597037|PMID:32600288|PMID:33085208|PMID:33134517|PMID:33491183|PMID:33644862|PMID:33669240|PMID:33879512|PMID:33972714|PMID:34284285|PMID:34296356|PMID:34302356|PMID:34445196|PMID:34589056|PMID:34611991|PMID:34753215|PMID:34758253|PMID:35012964|PMID:35032046|PMID:35586607|PMID:35691411|PMID:36140376|PMID:36344503|PMID:36385762|PMID:36397839|PMID:36530930|PMID:36596744|PMID:36825045|PMID:37152446|PMID:37197783|PMID:37237429|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38550343|PMID:38700104|PMID:38909121|PMID:39039281|PMID:614258|PMID:9536098
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0060794	hypomyelinating leukodystrophy 7		ISS	RGD:1313684	D	RGD:13592920	20250515	MouseDO		OMIM:607694	
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0060797	hypomyelinating leukodystrophy 8		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0080918	polymicrogyria		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:28492532|PMID:31637490
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0081333	Wiedemann-Rautenstrauch syndrome		ISO	RGD:1351863	D	RGD:7240710	20190612	OMIM			
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0081333	Wiedemann-Rautenstrauch syndrome		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: POLR3A-related disorders | ClinVar Annotator: match by term: WIEDEMANN-RAUTENSTRAUCH SYNDROME | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch Syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome	PMID:16199547|PMID:17576681|PMID:21855841|PMID:22036171|PMID:22451160|PMID:22855961|PMID:23355746|PMID:23965854|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27506977|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31855841|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32555393|PMID:32582862|PMID:32597037|PMID:33085208|PMID:33134517|PMID:33491183|PMID:33644862|PMID:33669240|PMID:33879512|PMID:33972714|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:35586607|PMID:35691411|PMID:36344503|PMID:36397839|PMID:36530930|PMID:36596744|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38550343|PMID:38700104|PMID:38909121|PMID:39039281|PMID:614258|PMID:9536098
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:25339210|PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:29389947|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:10534	stomach cancer		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:10579	leukodystrophy		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukodystrophy | ClinVar Annotator: match by term: POLR-related leukodystrophy	PMID:16199547|PMID:21855841|PMID:22036171|PMID:22451160|PMID:22819058|PMID:22855961|PMID:23355746|PMID:23965854|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27506977|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:30898877|PMID:31637490|PMID:31855841|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32582862|PMID:32597037|PMID:32600288|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37077564|PMID:37152446|PMID:37197783|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38550343|PMID:38700104|PMID:38909121|PMID:39039281|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:1059	intellectual disability		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:29389947|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:10907	microcephaly		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28459997|PMID:28492532|PMID:29389947|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32582862|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:10908	hydrocephalus		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:1115	sarcoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:11162	respiratory failure		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:1143	exotropia		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:1324	lung cancer		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:1389	polyneuropathy		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:1826	epilepsy		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29389947|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:1891	optic nerve disease		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic neuropathy	PMID:25741868|PMID:28492532|PMID:31637490
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:1909	melanoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:21855841|PMID:25339210|PMID:27612211|PMID:28492532|PMID:30414627|PMID:30450527
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:2846	bruxism		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:3275	thymoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:420	hypertrichosis		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:4362	cervical cancer		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:480	movement disease		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:4989	pancreatitis		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pancreatitis	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:5041	esophageal cancer		ISO	RGD:1351863	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:540	strabismus		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:21855841|PMID:22819058|PMID:25339210|PMID:25741868|PMID:28492532|PMID:30898877|PMID:32600288
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:543	dystonia		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder	PMID:16199547|PMID:21855841|PMID:22855961|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27506977|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32582862|PMID:32597037|PMID:32860008|PMID:33085208|PMID:33134517|PMID:33491183|PMID:33644862|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:35586607|PMID:35691411|PMID:36344503|PMID:36397839|PMID:36530930|PMID:36596744|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:543	dystonia		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27506977|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32582862|PMID:32597037|PMID:33085208|PMID:33134517|PMID:33491183|PMID:33644862|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:35586607|PMID:35691411|PMID:36344503|PMID:36397839|PMID:36530930|PMID:36596744|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38550343|PMID:38700104|PMID:38909121|PMID:39039281|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:6039	uveal melanoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:630	genetic disease		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21855841|PMID:25339210|PMID:25741868|PMID:26752647|PMID:27029625|PMID:27506977|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32582862|PMID:32597037|PMID:33085208|PMID:33134517|PMID:33491183|PMID:33644862|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:35586607|PMID:35691411|PMID:36344503|PMID:36397839|PMID:36530930|PMID:36596744|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38550343|PMID:38700104|PMID:38909121|PMID:39039281|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:850	lung disease		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:870	neuropathy		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28459997|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32582862|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9000495	Tremor		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31637490|PMID:31855841|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9001581	Constipation		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9001722	Dysarthria		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28459997|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32582862|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532|PMID:31637490
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:21855841|PMID:25741868|PMID:27029625|PMID:27506977|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32582862|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38550343|PMID:38700104|PMID:38909121|PMID:39039281|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9003132	Sialorrhea		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31637490|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9003242	Paresthesia		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Paresthesia	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9004034	Alacrima		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Alacrima	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9004866	Ataxia		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Dyssynergia | ClinVar Annotator: match by term: Limb ataxia	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29389947|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31637490|PMID:31855841|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31932101|PMID:31940116|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:21855841|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27029625|PMID:27506977|PMID:28459997|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32582862|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic gait | ClinVar Annotator: match by term: Unsteady gait	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31637490|PMID:31855841|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27506977|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31637490|PMID:31855841|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32582862|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38550343|PMID:38700104|PMID:38909121|PMID:39039281|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9007661	Dwarfism		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9007722	Myoclonus		ISO	RGD:1351863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30564185|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33085208|PMID:33491183|PMID:33669240|PMID:33879512|PMID:34296356|PMID:34445196|PMID:34753215|PMID:34758253|PMID:35032046|PMID:36344503|PMID:36530930|PMID:36825045|PMID:37152446|PMID:37273706|PMID:37597066|PMID:37644014|PMID:38413463|PMID:38700104|PMID:38909121|PMID:39039281
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25339210|PMID:25741868|PMID:27029625|PMID:27506977|PMID:28459997|PMID:28492532|PMID:30847471|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32582862|PMID:33134517|PMID:33644862|PMID:35586607|PMID:35691411|PMID:36397839|PMID:36596744|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9009047	Laryngeal Cleft		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Laryngeal cleft	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1351863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:27506977|PMID:28459997|PMID:28492532|PMID:31940116|PMID:32214227|PMID:32582862|PMID:38550343|PMID:614258
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16199547|PMID:21855841|PMID:25339210|PMID:25741868|PMID:27612211|PMID:28492532|PMID:30323018|PMID:30414627|PMID:30450527|PMID:31855841
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:31637490
1305574	Polr3a	RNA polymerase III subunit A	gene	DOID:9840	esotropia		ISO	RGD:1351863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:28492532|PMID:31637490
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:0050156	idiopathic pulmonary fibrosis	exacerbates	ISO	RGD:1602894	D	RGD:150429642|PMID:33533494	20210910	RGD		associated with lung squamous cell carcinoma; DNA:mutations:multiple (human)	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1602894	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:0060260	ptosis		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ptosis	PMID:25741868
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:0061043	autosomal dominant intellectual developmental disorder 70		ISO	RGD:1602894	D	RGD:7240710	20221221	OMIM			
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:0061043	autosomal dominant intellectual developmental disorder 70		ISO	RGD:1602894	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70	PMID:25741868|PMID:28492532|PMID:32710489
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:0070309	absence epilepsy		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1602894	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:28492532|PMID:29276005|PMID:31474318|PMID:32710489
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1602894	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1602894	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868|PMID:28492532|PMID:29276005|PMID:31474318|PMID:32710489
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:0080794	childhood acute megakaryoblastic leukemia		ISO	RGD:1602894	D	RGD:8554872	20210413	ClinVar		ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome	PMID:27993330
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:27993330
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1602894	D	RGD:150429638|PMID:29522714	20210910	RGD		mRNA:decreased expression:stomach (human)	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:10908	hydrocephalus		ISO	RGD:1602894	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:31474318
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1602894	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:1240	leukemia		ISO	RGD:1602894	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24509477
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:24852293|PMID:26084711|PMID:28492532|PMID:32674319|PMID:35101336
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1602894	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:26928227
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1602894	D	RGD:150429641|PMID:27834213	20210910	RGD		DNA:mutations:multiple (human)	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1602894	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	PMID:25741868|PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602894	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:3070	high grade glioma		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1602894	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29376028
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1602894	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:3307	teratoma		ISO	RGD:1602894	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ewing sarcoma	PMID:25223734|PMID:27993330|PMID:35079231
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:3571	liver cancer		ISO	RGD:1602894	D	RGD:11530741|PMID:26172293	20210910	RGD		protein:decreased expression:liver (human)	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1602894	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868|PMID:28492532|PMID:29276005|PMID:31474318|PMID:32710489
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1602894	D	RGD:150429633|PMID:33223508	20210910	RGD		human cells and genes in mouse model	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1602894	D	RGD:150429649|PMID:27687306	20210910	RGD		DNA:mutations:multiple (human)	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1621311	D	RGD:126848875|PMID:28202515	20210910	RGD			
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1602894	D	RGD:150429648|PMID:33707235	20210910	RGD			
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1602894	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1602894	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691|PMID:23797736
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1602894	D	RGD:6907137|PMID:21654818	20121030	RGD			
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602894	D	RGD:150429635|PMID:26864202	20210910	RGD		DNA:SNPs,loss of heterozygosity:multiple (human)	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:4467	clear cell renal cell carcinoma	severity	ISO	RGD:1602894	D	RGD:150429640|PMID:26891804	20210910	RGD		DNA:mutations:multiple (human)	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:480	movement disease		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:22495309|PMID:23160955|PMID:24267886|PMID:24852293|PMID:24901346|PMID:25574603|PMID:26084711|PMID:27317772|PMID:28424246|PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:23417712|PMID:27993330|PMID:28064387|PMID:30419952
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:23417712|PMID:24509477|PMID:27993330|PMID:28912153|PMID:30419952|PMID:30861589
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22495309|PMID:23160955|PMID:24267886|PMID:24728327|PMID:24852293|PMID:24901346|PMID:25574603|PMID:25741868|PMID:26084711|PMID:26467025|PMID:27317772|PMID:28424246|PMID:28492532|PMID:28577310|PMID:29276005|PMID:31474318|PMID:32710489|PMID:33004838|PMID:36474027
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1602894	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22495309|PMID:23160955|PMID:24267886|PMID:24852293|PMID:24901346|PMID:25574603|PMID:25741868|PMID:26084711|PMID:26467025|PMID:27317772|PMID:28424246|PMID:28492532|PMID:28577310|PMID:29276005|PMID:31474318|PMID:32710489|PMID:33004838
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:7474	malignant pleural mesothelioma		ISO	RGD:1602894	D	RGD:150429647|PMID:26928227	20210910	RGD		DNA:mutations:CDS:multiple (human)	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:7474	malignant pleural mesothelioma	disease_progression	ISO	RGD:1602894	D	RGD:150520202|PMID:33691361	20211105	RGD			
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1602894	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25701956
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1602894	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25741868|PMID:28492532|PMID:29276005|PMID:31474318|PMID:32710489
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:25741868|PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1602894	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:28492532|PMID:29276005|PMID:31474318|PMID:32710489
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1602894	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9002916	Hyperphagia		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9003745	Enteropathy-Associated T-Cell Lymphoma		ISO	RGD:1602894	D	RGD:150429643|PMID:27600764	20210910	RGD		DNA:mutations:multiple (human)	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9004240	Phyllodes Tumor		ISO	RGD:1602894	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437033
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1602894	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1602894	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic absence seizure	PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9005233	Experimental Mammary Neoplasms		IEP		D	RGD:151665131|PMID:27766425	20241212	RGD		mRNA, protein:decreased expression:serum, mammary gland	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:22495309|PMID:23160955|PMID:24267886|PMID:24852293|PMID:24901346|PMID:25574603|PMID:26084711|PMID:27317772|PMID:28424246|PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1602894	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868|PMID:28492532|PMID:29276005|PMID:31474318|PMID:32710489
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9008051	Luscan-Lumish Syndrome		ISO	RGD:1602894	D	RGD:7240710	20190315	OMIM			
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9008051	Luscan-Lumish Syndrome		ISO	RGD:1602894	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome | ClinVar Annotator: match by term: SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth	PMID:17576681|PMID:20864444|PMID:22495309|PMID:23160955|PMID:24142049|PMID:24267886|PMID:24728327|PMID:24852293|PMID:24901346|PMID:25574603|PMID:25741868|PMID:26084711|PMID:26467025|PMID:26580448|PMID:27317772|PMID:27455002|PMID:27528607|PMID:28166811|PMID:28424246|PMID:28492532|PMID:28577310|PMID:29276005|PMID:29681085|PMID:30419952|PMID:31474318|PMID:32668055|PMID:32710489|PMID:33004838|PMID:33921431|PMID:36474027|PMID:37025455|PMID:37372360|PMID:9536098
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9008051	Luscan-Lumish Syndrome		ISO	RGD:1602894	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LUSCAN-LUMISH SYNDROME | ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome | ClinVar Annotator: match by term: SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth	PMID:17576681|PMID:22495309|PMID:23160955|PMID:24267886|PMID:24852293|PMID:24901346|PMID:25574603|PMID:25741868|PMID:26084711|PMID:26467025|PMID:27317772|PMID:27455002|PMID:27528607|PMID:28166811|PMID:28424246|PMID:28492532|PMID:28577310|PMID:29276005|PMID:29681085|PMID:31474318|PMID:31643139|PMID:32668055|PMID:32674319|PMID:32710489|PMID:33004838|PMID:33337535|PMID:35101336|PMID:37025455|PMID:9536098
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9008582	Developmental Disease		ISO	RGD:1602894	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1602894	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437033
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1602894	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:31474318
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9009270	Rabin-Pappas syndrome		ISO	RGD:1602894	D	RGD:7240710	20250108	OMIM			
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9009270	Rabin-Pappas syndrome		ISO	RGD:1602894	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rabin-Pappas syndrome	PMID:25741868|PMID:28492532|PMID:29276005|PMID:31474318|PMID:32710489
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602894	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24509477|PMID:25741868|PMID:27359055|PMID:27993330|PMID:28492532|PMID:37038274
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9253	gastrointestinal stromal tumor	exacerbates	ISO	RGD:1602894	D	RGD:150429637|PMID:26338826	20210910	RGD		DNA:mutations:multiple (human)	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9256	colorectal cancer		ISO	RGD:1602894	D	RGD:150429645|PMID:26069251	20210910	RGD		mRNA:decreased expression:colon (human)	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9256	colorectal cancer		ISO	RGD:1602894	D	RGD:150429646|PMID:24925220	20210910	RGD		DNA:frameshift mutation:exon 3:c.4219delA (human)	
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1621311	D	RGD:150429636|PMID:28825595	20210910	RGD			
1305576	Setd2	SET domain containing 2, histone lysine methyltransferase	gene	DOID:9970	obesity		ISO	RGD:1602894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:0080600	COVID-19		ISO	RGD:1313689	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:0110592	autosomal dominant nonsyndromic deafness 70		ISO	RGD:1313689	D	RGD:7240710	20190315	OMIM			
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:0110592	autosomal dominant nonsyndromic deafness 70		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 70 | ClinVar Annotator: match by term: MCM2-related condition	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29706348
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1313689	D	RGD:10412048|PMID:19946466	20151112	RGD			
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1313690	D	RGD:10412050|PMID:17070803	20151112	RGD			
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:1115	sarcoma		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:1324	lung cancer		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:3275	thymoma		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313689	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1313689	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:23770000
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305577	Mcm2	minichromosome maintenance complex component 2	gene	DOID:9007970	Chronic Cerebral Hypoperfusion		IEP		D	RGD:10412049|PMID:17931356	20151112	RGD		protein:increased expression:dentate gyrus	
1305578	Cdcp1	CUB domain containing protein 1	gene	DOID:1909	melanoma		ISO	RGD:1601855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305578	Cdcp1	CUB domain containing protein 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1601855	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1305578	Cdcp1	CUB domain containing protein 1	gene	DOID:303	substance-related disorder		ISO	RGD:1601855	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1305578	Cdcp1	CUB domain containing protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305578	Cdcp1	CUB domain containing protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1601855	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305578	Cdcp1	CUB domain containing protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305578	Cdcp1	CUB domain containing protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305578	Cdcp1	CUB domain containing protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305578	Cdcp1	CUB domain containing protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305579	Swap70	switching B-cell complex subunit SWAP70	gene	DOID:4362	cervical cancer		ISO	RGD:1604631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305579	Swap70	switching B-cell complex subunit SWAP70	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:0040084	Streptococcus pneumonia	susceptibility	ISO	RGD:1313695	D	RGD:127345090|PMID:11390487	20210708	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1305581	Itgb2	integrin subunit beta 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:0060180	colitis		ISO	RGD:1313695	D	RGD:6482227|PMID:11031123	20120419	RGD		associated with Spirochaetales infections	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1313694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16764927
1305581	Itgb2	integrin subunit beta 2	gene	DOID:0110910	leukocyte adhesion deficiency 1		ISO	RGD:1313694	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:0110910	leukocyte adhesion deficiency 1		ISO	RGD:1313694	D	RGD:7240710	20131030	OMIM			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:0110910	leukocyte adhesion deficiency 1		ISO	RGD:1313694	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEUKOCYTE ADHESION DEFICIENCY 1 | ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 | ClinVar Annotator: match by term: Leukocyte adhesion deficiency type 1 | ClinVar Annotator: match by term: Lymphocyte function-associated antigen 1 immunodeficiency	PMID:11703376|PMID:11882363|PMID:12377933|PMID:12488604|PMID:12749013|PMID:1346613|PMID:1347532|PMID:14512306|PMID:1590804|PMID:16199547|PMID:17576681|PMID:17875809|PMID:18675632|PMID:19171538|PMID:1968911|PMID:20549317|PMID:20807363|PMID:21195692|PMID:22134107|PMID:24033266|PMID:24338230|PMID:25135596|PMID:25514840|PMID:25703682|PMID:25741868|PMID:25858935|PMID:26497373|PMID:26639818|PMID:27492259|PMID:28445705|PMID:28492532|PMID:29548898|PMID:30041527|PMID:30919141|PMID:32279896|PMID:33391282|PMID:34333755|PMID:36353617|PMID:36696755|PMID:37002583|PMID:38096369|PMID:7509236|PMID:7705401|PMID:7901025|PMID:9536098|PMID:9884339
1305581	Itgb2	integrin subunit beta 2	gene	DOID:0110910	leukocyte adhesion deficiency 1		ISS	RGD:1313695	D	RGD:13592920	20230718	MouseDO		OMIM:116920	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:0110910	leukocyte adhesion deficiency 1	susceptibility	ISO	RGD:1313694	D	RGD:6482224|PMID:20549317	20210701	RGD		DNA:polymorphisms:multiple (human)	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:0110912	leukocyte adhesion deficiency 3		ISO	RGD:1313694	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3	PMID:25741868
1305581	Itgb2	integrin subunit beta 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:10952	nephritis	treatment	IMP		D	RGD:8547716|PMID:8773354	20140220	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:11162	respiratory failure		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
1305581	Itgb2	integrin subunit beta 2	gene	DOID:11830	myopia		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1305581	Itgb2	integrin subunit beta 2	gene	DOID:1205	allergic disease		ISO	RGD:1313694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
1305581	Itgb2	integrin subunit beta 2	gene	DOID:12297	Vogt-Koyanagi-Harada disease		ISO	RGD:1313694	D	RGD:6482200|PMID:21297967	20120417	RGD		protein:decreased expression:T cell	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:1324	lung cancer		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:13241	Behcet's disease		ISO	RGD:1313694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8712863
1305581	Itgb2	integrin subunit beta 2	gene	DOID:182	calcinosis		ISO	RGD:1313694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
1305581	Itgb2	integrin subunit beta 2	gene	DOID:1909	melanoma		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:2527	nephrosis		ISO	RGD:1313694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12845231
1305581	Itgb2	integrin subunit beta 2	gene	DOID:2723	dermatitis		ISO	RGD:1313694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9653089
1305581	Itgb2	integrin subunit beta 2	gene	DOID:2841	asthma		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1305581	Itgb2	integrin subunit beta 2	gene	DOID:2921	glomerulonephritis		ISO	RGD:1313695	D	RGD:6907051|PMID:19752320	20121024	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:2921	glomerulonephritis		ISO	RGD:1313695	D	RGD:6907066|PMID:15277234	20121024	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:2938	Epstein-Barr virus infectious disease		ISO	RGD:1313694	D	RGD:127285814|PMID:25041527	20210701	RGD		associated with Hodgkin's lymphoma;mRNA, protein:increased expression:lymph node (human)	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:4079	heart valve disease		ISO	RGD:1313694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
1305581	Itgb2	integrin subunit beta 2	gene	DOID:4247	coronary restenosis		ISO	RGD:1313694	D	RGD:1581185|PMID:11703955	19990101	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:4481	allergic rhinitis	treatment	IEP		D	RGD:9698435|PMID:12046991	20210708	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:4961	bone marrow disease		ISO	RGD:1313694	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:10886250|PMID:11703376|PMID:12488604|PMID:1346132|PMID:17875809|PMID:22134107|PMID:25514840|PMID:25703682|PMID:25741868|PMID:28492532|PMID:30412664|PMID:7686755|PMID:7705401
1305581	Itgb2	integrin subunit beta 2	gene	DOID:4989	pancreatitis		ISO	RGD:1313695	D	RGD:6482196|PMID:22490516	20120417	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:552	pneumonia		IMP		D	RGD:6482228|PMID:10030843	20120419	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:552	pneumonia		ISO	RGD:1313694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
1305581	Itgb2	integrin subunit beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:630	genetic disease		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305581	Itgb2	integrin subunit beta 2	gene	DOID:6612	leukocyte adhesion deficiency		ISO	RGD:1313694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9653089
1305581	Itgb2	integrin subunit beta 2	gene	DOID:6612	leukocyte adhesion deficiency		ISO	RGD:1313694	D	RGD:1600220|PMID:1968911	20070305	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:6612	leukocyte adhesion deficiency		ISO	RGD:1313694	D	RGD:6482222|PMID:10886250	20120418	RGD		DNA:mutations:cds:p.D231H, G284S (human)	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:6612	leukocyte adhesion deficiency		ISO	RGD:1313694	D	RGD:6482223|PMID:21103413	20120419	RGD		DNA:mutation:exon:p.R188X(human)	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:6612	leukocyte adhesion deficiency		ISO	RGD:1313694	D	RGD:6482224|PMID:20549317	20120419	RGD		DNA:mutations:multiple	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:6612	leukocyte adhesion deficiency		ISO	RGD:1313694	D	RGD:6482225|PMID:14512306	20120419	RGD		DNA:deletion, nonsense mutations:exons:1622_1657del, 2200G>T (human)	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1305581	Itgb2	integrin subunit beta 2	gene	DOID:820	myocarditis		ISO	RGD:1313694	D	RGD:13702915|PMID:9556870	20180724	RGD		protein:increased expression:serum	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:8283	peritonitis	ameliorates	ISO	RGD:1313695	D	RGD:127345091|PMID:18239087	20210708	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:8549	chronic ulcer of skin		ISO	RGD:1313694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9653089
1305581	Itgb2	integrin subunit beta 2	gene	DOID:8893	psoriasis		ISO	RGD:1313695	D	RGD:6482221|PMID:19812597	20120418	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:8893	psoriasis		ISS	RGD:1313695	D	RGD:13592920	20180518	MouseDO		OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9000146	Plaque, Atherosclerotic		ISO	RGD:1313694	D	RGD:11085957|PMID:26188538	20180530	RGD		mRNA:increased expression:artery	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:1313694	D	RGD:6480655|PMID:21382035	20120329	RGD		mRNA:increased expression:gingival tissues (human)	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9001341	Chloracne		ISO	RGD:1313694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1313694	D	RGD:401851916|PMID:35592524	20231031	RGD		mRNA:increased expression:nephron tubule (human)	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1313695	D	RGD:6907072|PMID:11907109	20121025	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9002457	Experimental Arthritis		IMP		D	RGD:6482229|PMID:8881759	20120419	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1313695	D	RGD:6482197|PMID:18615643	20120417	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9002805	Enterocolitis		ISO	RGD:1313694	D	RGD:6482226|PMID:18675632	20120419	RGD		associated with Hirschsprung Disease;DNA:polymorphisms:multiple	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9004610	Acute Lung Injury		IMP		D	RGD:6482199|PMID:1374449	20120417	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9006223	Kidney Reperfusion Injury		IMP		D	RGD:6907073|PMID:11007822	20121025	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1313694	D	RGD:6907049|PMID:20504838	20121024	RGD		Associated with renal transplant patients	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1313694	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935819
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9009184	Eosinophilic Myocarditis	treatment	ISO	RGD:1313695	D	RGD:13702914|PMID:9822282	20180724	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9065	leishmaniasis	ameliorates	ISO	RGD:1313695	D	RGD:127285813|PMID:14502280	20210701	RGD			
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:1313695	D	RGD:8547590|PMID:7743671	20210708	RGD		protein:increased expression:lung (mouse)	
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9500	leukocyte disease		ISO	RGD:1313694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:2880869|PMID:9653089
1305581	Itgb2	integrin subunit beta 2	gene	DOID:9834	hyperopia		ISO	RGD:1313694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1305584	Dhrs3	dehydrogenase/reductase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305584	Dhrs3	dehydrogenase/reductase 3	gene	DOID:0070691	craniosynostosis-scoliosis syndrome		ISO	RGD:1313699	D	RGD:7240710	20260311	OMIM			
1305584	Dhrs3	dehydrogenase/reductase 3	gene	DOID:0070691	craniosynostosis-scoliosis syndrome		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CRANIOSYNOSTOSIS-SCOLIOSIS SYNDROME | ClinVar Annotator: match by term: Craniosynostosis-scoliosis syndrome	
1305584	Dhrs3	dehydrogenase/reductase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305584	Dhrs3	dehydrogenase/reductase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305584	Dhrs3	dehydrogenase/reductase 3	gene	DOID:1909	melanoma		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305584	Dhrs3	dehydrogenase/reductase 3	gene	DOID:2340	craniosynostosis		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868
1305584	Dhrs3	dehydrogenase/reductase 3	gene	DOID:3275	thymoma		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305584	Dhrs3	dehydrogenase/reductase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305584	Dhrs3	dehydrogenase/reductase 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0050663	Bethlem myopathy		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures	PMID:11381124|PMID:12840783|PMID:15689448|PMID:16130093|PMID:16199547|PMID:17576681|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18852439|PMID:19309692|PMID:19344236|PMID:19884007|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:23040494|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:25211533|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27447704|PMID:27782108|PMID:28492532|PMID:29774307|PMID:30467950|PMID:30564623|PMID:30609409|PMID:31949757|PMID:32065942|PMID:33250842|PMID:33567613|PMID:34106991|PMID:34167565|PMID:37091313|PMID:37526466|PMID:37569848|PMID:38374194|PMID:4793163|PMID:7695699|PMID:8218237|PMID:9536098
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:12840783|PMID:15689448|PMID:25741868|PMID:26467025|PMID:28492532
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0060942	Ullrich congenital muscular dystrophy 1B		ISO	RGD:1313701	D	RGD:7240710	20240320	OMIM			
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0060942	Ullrich congenital muscular dystrophy 1B		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1B	PMID:11381124|PMID:15689448|PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24271325|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30564623|PMID:30609409|PMID:32065942|PMID:33567613|PMID:34106991|PMID:34167565|PMID:37091313|PMID:37526466|PMID:38374194
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0060946	Ullrich congenital muscular dystrophy 1A		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A	PMID:11381124|PMID:15689448|PMID:16199547|PMID:18414213|PMID:18825676|PMID:19309692|PMID:19884007|PMID:20576434|PMID:20976770|PMID:21280092|PMID:23040494|PMID:24033266|PMID:24271325|PMID:24314752|PMID:25204870|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27447704|PMID:28492532|PMID:29419890|PMID:29774307|PMID:30564623|PMID:30609409|PMID:32065942|PMID:33567613|PMID:34106991|PMID:34167565|PMID:37091313|PMID:37526466|PMID:38374194
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1313701	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A	PMID:11381124|PMID:11865138|PMID:15563506|PMID:15689448|PMID:16130093|PMID:16199547|PMID:17576681|PMID:17785673|PMID:1788629|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:18852439|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:22075033|PMID:23040494|PMID:23326386|PMID:23757202|PMID:23940025|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24801232|PMID:25204870|PMID:25380242|PMID:25533456|PMID:25535305|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27104957|PMID:27159402|PMID:27363342|PMID:27421963|PMID:27782108|PMID:27854218|PMID:28492532|PMID:28600779|PMID:28660205|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:30564623|PMID:30963254|PMID:31127727|PMID:31949757|PMID:32053901|PMID:32065942|PMID:32403337|PMID:32528171|PMID:33101984|PMID:33146414|PMID:33250842|PMID:33441455|PMID:33567613|PMID:34167565|PMID:34440373|PMID:35387801|PMID:36982625|PMID:37091313|PMID:37526466|PMID:37569848|PMID:38374194|PMID:39135765|PMID:39367186|PMID:4793163|PMID:7695699|PMID:7785673|PMID:8218237|PMID:8782832|PMID:9536098
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A	PMID:11381124|PMID:11865138|PMID:15365990|PMID:15563506|PMID:15689448|PMID:16130093|PMID:16199547|PMID:17078022|PMID:17576681|PMID:17785673|PMID:1788629|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:18852439|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20576434|PMID:20729548|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22075033|PMID:23040494|PMID:23326386|PMID:23757202|PMID:23940025|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25204870|PMID:25211533|PMID:25380242|PMID:25533456|PMID:25535305|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27363342|PMID:27421963|PMID:27447704|PMID:27782108|PMID:27854218|PMID:28098982|PMID:28492532|PMID:28600779|PMID:28660205|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:29774307|PMID:30467950|PMID:30564623|PMID:30609409|PMID:30963254|PMID:31127727|PMID:31949757|PMID:32053901|PMID:32065942|PMID:32403337|PMID:32528171|PMID:33101984|PMID:33146414|PMID:33250842|PMID:33567613|PMID:34106991|PMID:34167565|PMID:34440373|PMID:35387801|PMID:36982625|PMID:37091313|PMID:37526466|PMID:37569848|PMID:38374194|PMID:39135765|PMID:39367186|PMID:40225934|PMID:4793163|PMID:7695699|PMID:7785673|PMID:8218237|PMID:8782832|PMID:9536098
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A	PMID:11381124|PMID:11865138|PMID:12840783|PMID:15365990|PMID:15563506|PMID:15689448|PMID:16130093|PMID:16199547|PMID:17078022|PMID:17576681|PMID:17785673|PMID:1788629|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:18852439|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:20576434|PMID:20729548|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22075033|PMID:23040494|PMID:23326386|PMID:23940025|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25204870|PMID:25211533|PMID:25380242|PMID:25533456|PMID:25535305|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27363342|PMID:27421963|PMID:27447704|PMID:27782108|PMID:27854218|PMID:28098982|PMID:28492532|PMID:28600779|PMID:28660205|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:29774307|PMID:30467950|PMID:30564623|PMID:30609409|PMID:30963254|PMID:31127727|PMID:31949757|PMID:32053901|PMID:32065942|PMID:32403337|PMID:32528171|PMID:33101984|PMID:33146414|PMID:33250842|PMID:33567613|PMID:34106991|PMID:34167565|PMID:34440373|PMID:35387801|PMID:36982625|PMID:37091313|PMID:37526466|PMID:37569848|PMID:38374194|PMID:39135765|PMID:39367186|PMID:40225934|PMID:4793163|PMID:7695699|PMID:7785673|PMID:8218237|PMID:8782832|PMID:9536098
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0061198	Bethlem myopathy 1A	susceptibility	ISO	RGD:1313701	D	RGD:1600934|PMID:8782832	20070402	RGD		Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)	
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0061199	Bethlem myopathy 1B		ISO	RGD:1313701	D	RGD:7240710	20240320	OMIM			
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0061199	Bethlem myopathy 1B		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1B	PMID:11381124|PMID:15689448|PMID:19309692|PMID:19884007|PMID:20576434|PMID:20976770|PMID:21280092|PMID:24033266|PMID:24271325|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30564623|PMID:30609409|PMID:32065942|PMID:33567613|PMID:34106991|PMID:37091313|PMID:37526466|PMID:38374194
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0080600	COVID-19		ISO	RGD:1313701	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0081337	congenital myopathy		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:11381124|PMID:17886299|PMID:19309692|PMID:20576434|PMID:20729548|PMID:20981092|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30467950|PMID:30564623|PMID:30609409|PMID:32065942|PMID:34106991|PMID:37526466|PMID:38374194
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:0111679	glutamate formiminotransferase deficiency		ISO	RGD:8659346	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency	PMID:25741868|PMID:28492532
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:1115	sarcoma		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:12840783|PMID:15689448|PMID:25741868|PMID:26467025|PMID:28492532
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:11162	respiratory failure		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:1324	lung cancer		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:12840783|PMID:15689448|PMID:23040494|PMID:24271325|PMID:25741868|PMID:26467025|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1313701	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1313701	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Leber's amaurosis	PMID:19884007|PMID:25741868|PMID:28492532|PMID:29419890|PMID:30564623|PMID:31127727|PMID:32165824|PMID:34167565
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:1826	epilepsy		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:1909	melanoma		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:12840783|PMID:15689448|PMID:16199547|PMID:19884007|PMID:20976770|PMID:23040494|PMID:24271325|PMID:25741868|PMID:26467025|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:2841	asthma		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:3275	thymoma		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:12840783|PMID:15689448|PMID:25741868|PMID:26467025|PMID:28492532
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:423	myopathy		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:12840783|PMID:15689448|PMID:23040494|PMID:25741868|PMID:26467025|PMID:28492532
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1313701	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:12840783|PMID:15689448|PMID:23040494|PMID:24271325|PMID:25741868|PMID:26467025|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:5844	myocardial infarction		ISO	RGD:1313701	D	RGD:626469561|PMID:29399125	20250916	RGD		mRNA:increased expression:blood	
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:630	genetic disease		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15689448|PMID:19344236|PMID:24038877|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9724608
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:12840783|PMID:15689448|PMID:25741868|PMID:26467025|PMID:28492532
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:767	muscular atrophy		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:8398	osteoarthritis		ISO	RGD:1313701	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9000495	Tremor		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9001573	Experimental Liver Cirrhosis		IEP		D	RGD:1600938|PMID:7791542	20070402	RGD		Protein:increased expression:liver	
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313701	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:11381124|PMID:15689448|PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24271325|PMID:24314752|PMID:25204870|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30564623|PMID:30609409|PMID:32065942|PMID:33567613|PMID:34106991|PMID:37091313|PMID:37526466|PMID:38374194
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9005560	Congenital Hip Dislocation		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital hip dislocation	PMID:11381124|PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30609409|PMID:32065942|PMID:34106991|PMID:37526466|PMID:38374194
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:12840783|PMID:15689448|PMID:23040494|PMID:25741868|PMID:26467025|PMID:28492532
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:11381124|PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30609409|PMID:32065942|PMID:34106991|PMID:37526466|PMID:38374194
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9007626	Myosclerosis, Autosomal Recessive		ISO	RGD:1313701	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9007626	Myosclerosis, Autosomal Recessive		ISO	RGD:1313701	D	RGD:7240710	20130221	OMIM			
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9007626	Myosclerosis, Autosomal Recessive		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL | ClinVar Annotator: match by term: Myosclerosis	PMID:11381124|PMID:12840783|PMID:15689448|PMID:18414213|PMID:18852439|PMID:19309692|PMID:20576434|PMID:21280092|PMID:23040494|PMID:24033266|PMID:24271325|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30564623|PMID:30609409|PMID:32065942|PMID:33567613|PMID:34106991|PMID:37091313|PMID:37526466|PMID:38374194|PMID:4793163
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9007661	Dwarfism		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:28492532|PMID:30564623|PMID:37091313
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:936	brain disease		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
1305585	Col6a2	collagen type VI alpha 2 chain	gene	DOID:9884	muscular dystrophy		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
1305586	Tmem45b	transmembrane protein 45b	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305586	Tmem45b	transmembrane protein 45b	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305586	Tmem45b	transmembrane protein 45b	gene	DOID:1115	sarcoma		ISO	RGD:1348060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305586	Tmem45b	transmembrane protein 45b	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305586	Tmem45b	transmembrane protein 45b	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305586	Tmem45b	transmembrane protein 45b	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305586	Tmem45b	transmembrane protein 45b	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305587	Fam241b	family with sequence similarity 241 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305587	Fam241b	family with sequence similarity 241 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305587	Fam241b	family with sequence similarity 241 member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305587	Fam241b	family with sequence similarity 241 member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313704	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305588	Rag2	recombination activating 2	gene	DOID:0060010	Omenn syndrome		ISO	RGD:1313706	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305588	Rag2	recombination activating 2	gene	DOID:0060010	Omenn syndrome		ISO	RGD:1313706	D	RGD:1599403|PMID:9630231	20070201	RGD			
1305588	Rag2	recombination activating 2	gene	DOID:0060010	Omenn syndrome		ISO	RGD:1313706	D	RGD:7240710	20130221	OMIM			
1305588	Rag2	recombination activating 2	gene	DOID:0060010	Omenn syndrome		ISO	RGD:1313706	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Omenn syndrome | ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia	PMID:10552957|PMID:10635319|PMID:10777560|PMID:10891502|PMID:11133745|PMID:11138625|PMID:11313270|PMID:11908269|PMID:12200379|PMID:15025726|PMID:15964836|PMID:16960852|PMID:17476358|PMID:17572155|PMID:18025461|PMID:18033247|PMID:18463379|PMID:18682256|PMID:19333736|PMID:19414857|PMID:19470080|PMID:20234091|PMID:20603253|PMID:21131235|PMID:21502542|PMID:21624848|PMID:21664875|PMID:22841008|PMID:23243423|PMID:23994475|PMID:24052573|PMID:24139496|PMID:24144642|PMID:24174341|PMID:24331380|PMID:24481607|PMID:24996264|PMID:25109802|PMID:25333069|PMID:25707801|PMID:25741868|PMID:25869295|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26692406|PMID:26915675|PMID:26996199|PMID:27730413|PMID:28492532|PMID:28600779|PMID:28747913|PMID:28769923|PMID:28970295|PMID:29051008|PMID:29410113|PMID:29658452|PMID:29772310|PMID:30159811|PMID:30305145|PMID:30307608|PMID:30778343|PMID:31031743|PMID:31058115|PMID:31334206|PMID:31388879|PMID:31838659|PMID:32265901|PMID:32445296|PMID:32531373|PMID:32581362|PMID:32655540|PMID:32888943|PMID:33193364|PMID:33599911|PMID:33628209|PMID:33954879|PMID:34851571|PMID:35281013|PMID:35482138|PMID:35874699|PMID:35902420|PMID:36279417|PMID:37724703|PMID:37898571|PMID:38165471|PMID:39789600|PMID:39792639|PMID:8617299|PMID:8810255|PMID:9630231
1305588	Rag2	recombination activating 2	gene	DOID:0060010	Omenn syndrome		ISS	RGD:1313707	D	RGD:13592920	20230718	MouseDO		OMIM:603554	
1305588	Rag2	recombination activating 2	gene	DOID:0060012	recombinase activating gene 2 deficiency		ISO	RGD:1313706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RAG2 deficiency | ClinVar Annotator: match by term: Recombinase activating gene 2 deficiency	PMID:10777560|PMID:11313270|PMID:15025726|PMID:15964836|PMID:16960852|PMID:17572155|PMID:19178939|PMID:20234091|PMID:23243423|PMID:25741868|PMID:26457731|PMID:28492532|PMID:28747913|PMID:28769923|PMID:29772310|PMID:30307608|PMID:33954879|PMID:35753512|PMID:37854700|PMID:38096800
1305588	Rag2	recombination activating 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1313706	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24211274
1305588	Rag2	recombination activating 2	gene	DOID:0080915	histiocytic sarcoma		ISO	RGD:1313706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Histiocytic medullary reticulosis	PMID:10777560|PMID:11313270|PMID:15025726|PMID:16960852|PMID:17572155|PMID:19178939|PMID:23243423|PMID:23994475|PMID:25741868|PMID:26457731|PMID:28492532|PMID:28747913|PMID:28769923|PMID:29772310|PMID:30159811|PMID:30307608|PMID:33954879|PMID:35753512|PMID:36279417|PMID:37854700
1305588	Rag2	recombination activating 2	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1313706	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305588	Rag2	recombination activating 2	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1313706	D	RGD:7240710	20130221	OMIM			
1305588	Rag2	recombination activating 2	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1313706	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	PMID:10777560|PMID:10891502|PMID:11133745|PMID:11313270|PMID:15025726|PMID:16960852|PMID:17572155|PMID:19178939|PMID:19414857|PMID:20234091|PMID:21502542|PMID:21624848|PMID:22295088|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24174341|PMID:25741868|PMID:25869295|PMID:26457731|PMID:26692406|PMID:27730413|PMID:28492532|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32445296|PMID:32655540|PMID:8810255
1305588	Rag2	recombination activating 2	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1313706	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	PMID:10777560|PMID:10891502|PMID:11133745|PMID:11138625|PMID:11313270|PMID:15025726|PMID:16960852|PMID:17476358|PMID:17572155|PMID:18025461|PMID:18682256|PMID:19178939|PMID:19333736|PMID:19414857|PMID:20234091|PMID:21502542|PMID:21624848|PMID:22295088|PMID:23243423|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24174341|PMID:25741868|PMID:25869295|PMID:26457731|PMID:26692406|PMID:27730413|PMID:28492532|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32445296|PMID:32655540|PMID:32888943|PMID:8810255
1305588	Rag2	recombination activating 2	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1313706	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	PMID:10777560|PMID:10891502|PMID:11133745|PMID:11138625|PMID:11313270|PMID:15025726|PMID:16960852|PMID:17476358|PMID:17572155|PMID:18025461|PMID:18682256|PMID:19178939|PMID:19333736|PMID:19414857|PMID:19912631|PMID:20234091|PMID:21502542|PMID:21624848|PMID:22295088|PMID:23243423|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24174341|PMID:25741868|PMID:25869295|PMID:26457731|PMID:26692406|PMID:27730413|PMID:28492532|PMID:28747913|PMID:28769923|PMID:28970295|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32445296|PMID:32655540|PMID:32888943|PMID:8810255
1305588	Rag2	recombination activating 2	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1313706	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE | ClinVar Annotator: match by term: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE | ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	PMID:10777560|PMID:11133745|PMID:11313270|PMID:15025726|PMID:16960852|PMID:17572155|PMID:19178939|PMID:19912631|PMID:20234091|PMID:21624848|PMID:22295088|PMID:23243423|PMID:23994475|PMID:25741868|PMID:25869295|PMID:26457731|PMID:28492532|PMID:28747913|PMID:28769923|PMID:29772310|PMID:30159811|PMID:30307608|PMID:33954879|PMID:35753512|PMID:36279417|PMID:37854700|PMID:9630231
1305588	Rag2	recombination activating 2	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISS	RGD:1313707	D	RGD:13592920	20230718	MouseDO		OMIM:601457	
1305588	Rag2	recombination activating 2	gene	DOID:0112253	combined cellular and humoral immune defects with granulomas		ISO	RGD:1313706	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305588	Rag2	recombination activating 2	gene	DOID:0112253	combined cellular and humoral immune defects with granulomas		ISO	RGD:1313706	D	RGD:7240710	20130221	OMIM			
1305588	Rag2	recombination activating 2	gene	DOID:0112253	combined cellular and humoral immune defects with granulomas		ISO	RGD:1313706	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas	PMID:10777560|PMID:10891502|PMID:11133745|PMID:11138625|PMID:11313270|PMID:12200379|PMID:15025726|PMID:16111638|PMID:16960852|PMID:17476358|PMID:17572155|PMID:18025461|PMID:18033247|PMID:18463379|PMID:18682256|PMID:19178939|PMID:19333736|PMID:19414857|PMID:19763152|PMID:20234091|PMID:20307669|PMID:20603253|PMID:21131235|PMID:21184155|PMID:21502542|PMID:21624848|PMID:21625022|PMID:21664875|PMID:22295088|PMID:22406018|PMID:22841008|PMID:23243423|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24174341|PMID:24290284|PMID:24331380|PMID:24481607|PMID:24996264|PMID:25109802|PMID:25333069|PMID:25707801|PMID:25739914|PMID:25741868|PMID:25842288|PMID:25869295|PMID:2618670|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26692406|PMID:26915675|PMID:26996199|PMID:27730413|PMID:28492532|PMID:28600779|PMID:28747913|PMID:28769923|PMID:28970295|PMID:29051008|PMID:29095814|PMID:29658452|PMID:29772310|PMID:30159811|PMID:30305145|PMID:30307608|PMID:30778343|PMID:31031743|PMID:31058115|PMID:31334206|PMID:31388879|PMID:31838659|PMID:32445296|PMID:32531373|PMID:32581362|PMID:32655540|PMID:32888943|PMID:33505738|PMID:33628209|PMID:33954879|PMID:35281013|PMID:35902420|PMID:36279417|PMID:8810255|PMID:9630231
1305588	Rag2	recombination activating 2	gene	DOID:0112253	combined cellular and humoral immune defects with granulomas		ISO	RGD:1313706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas	PMID:10777560|PMID:10891502|PMID:11133745|PMID:11313270|PMID:12200379|PMID:15025726|PMID:16111638|PMID:16960852|PMID:17572155|PMID:18033247|PMID:19178939|PMID:19763152|PMID:19912631|PMID:20234091|PMID:20307669|PMID:20603253|PMID:21131235|PMID:21184155|PMID:21624848|PMID:22406018|PMID:22841008|PMID:23243423|PMID:23994475|PMID:24144642|PMID:25707801|PMID:25739914|PMID:25741868|PMID:25842288|PMID:2618670|PMID:26457731|PMID:26476733|PMID:26692406|PMID:26915675|PMID:28492532|PMID:28600779|PMID:28747913|PMID:28769923|PMID:29658452|PMID:29772310|PMID:30159811|PMID:30307608|PMID:30778343|PMID:31031743|PMID:31388879|PMID:31838659|PMID:32445296|PMID:32655540|PMID:32888943|PMID:33505738|PMID:33628209|PMID:33954879|PMID:35753512|PMID:36279417|PMID:37854700|PMID:37898571|PMID:8810255|PMID:9630231
1305588	Rag2	recombination activating 2	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1313706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Common variable immunodeficiency	PMID:25741868
1305588	Rag2	recombination activating 2	gene	DOID:3659	sialuria		ISO	RGD:1313706	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Salla disease	PMID:25741868
1305588	Rag2	recombination activating 2	gene	DOID:627	severe combined immunodeficiency		IMP		D	RGD:38508903|PMID:30206106	20200821	RGD			
1305588	Rag2	recombination activating 2	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1313706	D	RGD:1599402|PMID:8810255	20070201	RGD			
1305588	Rag2	recombination activating 2	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1313706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:10777560|PMID:11313270|PMID:15025726|PMID:16960852|PMID:18033247|PMID:23243423|PMID:25741868|PMID:28492532|PMID:28747913|PMID:28769923|PMID:30307608|PMID:32655540|PMID:33954879|PMID:36279417
1305588	Rag2	recombination activating 2	gene	DOID:630	genetic disease		ISO	RGD:1313706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305588	Rag2	recombination activating 2	gene	DOID:9000156	Metaplasia		ISO	RGD:1313706	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: therapeutic	PMID:27315767
1305588	Rag2	recombination activating 2	gene	DOID:9001371	Eosinophilia		ISO	RGD:1313706	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: therapeutic	PMID:27315767
1305588	Rag2	recombination activating 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1313706	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:20974942
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:0060058	lymphoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1313708	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1313708	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34427968
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9000918	Disease Progression		ISO	RGD:1313708	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34427968
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313708	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151356
1305589	Fgd5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:0060357	chylomicron retention disease		ISO	RGD:1313710	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:0060357	chylomicron retention disease		ISO	RGD:1313710	D	RGD:7240710	20130221	OMIM			
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:0060357	chylomicron retention disease		ISO	RGD:1313710	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHYLOMICRON RETENTION DISEASE | ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells | ClinVar Annotator: match by term: SAR1B-related condition	PMID:12692552|PMID:17945526|PMID:19285442|PMID:24033266|PMID:25741868|PMID:28492532
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:0060357	chylomicron retention disease		ISS	RGD:1313711	D	RGD:13592920	20230718	MouseDO		OMIM:246700	
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:1324	lung cancer		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:6039	uveal melanoma		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:630	genetic disease		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:1313710	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:12692552|PMID:25741868
1305590	Sar1b	secretion associated, Ras related GTPase 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305591	Ccdc15	coiled-coil domain containing 15	gene	DOID:10534	stomach cancer		ISO	RGD:1605034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305591	Ccdc15	coiled-coil domain containing 15	gene	DOID:1115	sarcoma		ISO	RGD:1605034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305591	Ccdc15	coiled-coil domain containing 15	gene	DOID:1324	lung cancer		ISO	RGD:1605034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305591	Ccdc15	coiled-coil domain containing 15	gene	DOID:1909	melanoma		ISO	RGD:1605034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305591	Ccdc15	coiled-coil domain containing 15	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305591	Ccdc15	coiled-coil domain containing 15	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305591	Ccdc15	coiled-coil domain containing 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1605034	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305591	Ccdc15	coiled-coil domain containing 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305591	Ccdc15	coiled-coil domain containing 15	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605034	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1305591	Ccdc15	coiled-coil domain containing 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305592	Pagr1	Paxip1-associated glutamate-rich protein 1	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1606780	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
1305592	Pagr1	Paxip1-associated glutamate-rich protein 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606780	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy	PMID:28492532
1305592	Pagr1	Paxip1-associated glutamate-rich protein 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1606780	D	RGD:153344568|PMID:33833989	20220826	RGD		mRNA, protein:decreased expression:esophagus (human)	
1305592	Pagr1	Paxip1-associated glutamate-rich protein 1	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1606780	D	RGD:153344568|PMID:33833989	20220826	RGD		protein:decreased expression:esophagus (human)	
1305592	Pagr1	Paxip1-associated glutamate-rich protein 1	gene	DOID:9009121	lung metastasis		ISO	RGD:1606780	D	RGD:153344568|PMID:33833989	20220826	RGD		human cells in mouse model	
1305594	Evx2	even-skipped homeobox 2	gene	DOID:9005586	Synpolydactyly 1		ISO	RGD:1348415	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Synpolydactyly type 1	PMID:25741868
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:10534	stomach cancer		ISO	RGD:1313717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:1115	sarcoma		ISO	RGD:1313717	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:1324	lung cancer		ISO	RGD:1313717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:1793	pancreatic cancer		ISO	RGD:1313717	D	RGD:2317573|PMID:12428789	20100412	RGD		protein:increased expression:pancreas	
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:1909	melanoma		ISO	RGD:1313717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313717	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:4362	cervical cancer		ISO	RGD:1313717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:5041	esophageal cancer		ISO	RGD:1313717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:850	lung disease		ISO	RGD:1313717	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21602193
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305595	Adgre5	adhesion G protein-coupled receptor E5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305597	Samd4b	sterile alpha motif domain containing 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305597	Samd4b	sterile alpha motif domain containing 4B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305597	Samd4b	sterile alpha motif domain containing 4B	gene	DOID:3275	thymoma		ISO	RGD:1605980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305597	Samd4b	sterile alpha motif domain containing 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1605980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305597	Samd4b	sterile alpha motif domain containing 4B	gene	DOID:5041	esophageal cancer		ISO	RGD:1605980	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305597	Samd4b	sterile alpha motif domain containing 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305597	Samd4b	sterile alpha motif domain containing 4B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305597	Samd4b	sterile alpha motif domain containing 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1313721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:0110798	hereditary spastic paraplegia 46		ISO	RGD:1313721	D	RGD:7240710	20140911	OMIM			
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:0110798	hereditary spastic paraplegia 46		ISO	RGD:1313721	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GBA2-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 46, autosomal recessive	PMID:16199547|PMID:17576681|PMID:23332916|PMID:23332917|PMID:24252062|PMID:25741868|PMID:26220345|PMID:28492532|PMID:28832565|PMID:30308956|PMID:30560021|PMID:30662006|PMID:33397523|PMID:42120987|PMID:9536098
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:1059	intellectual disability		ISO	RGD:1313721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:23332916|PMID:23332917|PMID:25741868|PMID:28492532
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:1115	sarcoma		ISO	RGD:1313721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1313721	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:24252062|PMID:25741868|PMID:28492532|PMID:30560021|PMID:30662006
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313721	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:607	paraplegia		ISO	RGD:1313721	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:17576681|PMID:23332916|PMID:23332917|PMID:24252062|PMID:25741868|PMID:28052128|PMID:28492532|PMID:29980238|PMID:30560021|PMID:30662006|PMID:32590105|PMID:33956305|PMID:34251556|PMID:34782662|PMID:9536098
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:630	genetic disease		ISO	RGD:1313721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313721	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1305598	Gba2	glucosylceramidase beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305600	U2af1l4	U2 small nuclear RNA auxiliary factor 1-like 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343980	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305600	U2af1l4	U2 small nuclear RNA auxiliary factor 1-like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305600	U2af1l4	U2 small nuclear RNA auxiliary factor 1-like 4	gene	DOID:1324	lung cancer		ISO	RGD:1343980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305600	U2af1l4	U2 small nuclear RNA auxiliary factor 1-like 4	gene	DOID:1909	melanoma		ISO	RGD:1343980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305600	U2af1l4	U2 small nuclear RNA auxiliary factor 1-like 4	gene	DOID:3275	thymoma		ISO	RGD:1343980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305600	U2af1l4	U2 small nuclear RNA auxiliary factor 1-like 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305600	U2af1l4	U2 small nuclear RNA auxiliary factor 1-like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305601	Rsph14	radial spoke head 14 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305601	Rsph14	radial spoke head 14 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305601	Rsph14	radial spoke head 14 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1313725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305601	Rsph14	radial spoke head 14 homolog	gene	DOID:3275	thymoma		ISO	RGD:1313725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305601	Rsph14	radial spoke head 14 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305601	Rsph14	radial spoke head 14 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305602	Ephb3	Eph receptor B3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305602	Ephb3	Eph receptor B3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305602	Ephb3	Eph receptor B3	gene	DOID:10534	stomach cancer		ISO	RGD:1313727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305602	Ephb3	Eph receptor B3	gene	DOID:12365	malaria		IEP		D	RGD:127285023|PMID:25784101	20210616	RGD			
1305602	Ephb3	Eph receptor B3	gene	DOID:1909	melanoma		ISO	RGD:1313727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305602	Ephb3	Eph receptor B3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305602	Ephb3	Eph receptor B3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305602	Ephb3	Eph receptor B3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305602	Ephb3	Eph receptor B3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305602	Ephb3	Eph receptor B3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305602	Ephb3	Eph receptor B3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305603	Pfdn1	prefoldin subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305603	Pfdn1	prefoldin subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1313729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305603	Pfdn1	prefoldin subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305603	Pfdn1	prefoldin subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305603	Pfdn1	prefoldin subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305603	Pfdn1	prefoldin subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305603	Pfdn1	prefoldin subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305604	Ccdc30	coiled-coil domain containing 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305604	Ccdc30	coiled-coil domain containing 30	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1305604	Ccdc30	coiled-coil domain containing 30	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305604	Ccdc30	coiled-coil domain containing 30	gene	DOID:1324	lung cancer		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305604	Ccdc30	coiled-coil domain containing 30	gene	DOID:1909	melanoma		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305604	Ccdc30	coiled-coil domain containing 30	gene	DOID:3275	thymoma		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305604	Ccdc30	coiled-coil domain containing 30	gene	DOID:4362	cervical cancer		ISO	RGD:1605139	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305604	Ccdc30	coiled-coil domain containing 30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305604	Ccdc30	coiled-coil domain containing 30	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305604	Ccdc30	coiled-coil domain containing 30	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305604	Ccdc30	coiled-coil domain containing 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305605	Nop14	NOP14 nucleolar protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305605	Nop14	NOP14 nucleolar protein	gene	DOID:10534	stomach cancer		ISO	RGD:1313732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305605	Nop14	NOP14 nucleolar protein	gene	DOID:1115	sarcoma		ISO	RGD:1313732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305605	Nop14	NOP14 nucleolar protein	gene	DOID:4362	cervical cancer		ISO	RGD:1313732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305605	Nop14	NOP14 nucleolar protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1313732	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305605	Nop14	NOP14 nucleolar protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305605	Nop14	NOP14 nucleolar protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:0060058	lymphoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1603307	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital hypogonadotropic hypogonadism	PMID:25741868
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:1909	melanoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1603307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305606	Otud4	OTU deubiquitinase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305607	Adamtsl5	ADAMTS-like 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305607	Adamtsl5	ADAMTS-like 5	gene	DOID:1909	melanoma		ISO	RGD:1313735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305607	Adamtsl5	ADAMTS-like 5	gene	DOID:4362	cervical cancer		ISO	RGD:1313735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305607	Adamtsl5	ADAMTS-like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305607	Adamtsl5	ADAMTS-like 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1313735	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1305607	Adamtsl5	ADAMTS-like 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305607	Adamtsl5	ADAMTS-like 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1313737	D	RGD:13831357|PMID:11172604	20190107	RGD			
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:1059	intellectual disability		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:1115	sarcoma		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:11782	astigmatism		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:12849	autistic disorder		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:1909	melanoma		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:2394	ovarian cancer		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:3008	invasive ductal carcinoma	disease_progression	ISO	RGD:1313737	D	RGD:13831358|PMID:25376607	20190107	RGD			
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:3068	glioblastoma		ISO	RGD:1313737	D	RGD:13831355|PMID:12507886	20190107	RGD		mRNA:decreased expression:brain:	
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:3068	glioblastoma	treatment	ISO	RGD:1313737	D	RGD:13831352|PMID:16244591	20190107	RGD			
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:3069	malignant astrocytoma	severity	ISO	RGD:1313737	D	RGD:13831356|PMID:23761815	20190107	RGD			
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313737	D	RGD:13831350|PMID:11875720	20190107	RGD		mRNA:decreased expression:pancreas	
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:4362	cervical cancer		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:4450	renal cell carcinoma	severity	ISO	RGD:1313737	D	RGD:13831349|PMID:21511296	20190107	RGD			
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1313737	D	RGD:13831357|PMID:11172604	20190107	RGD		associated with stomach cancer;	
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313737	D	RGD:13831353|PMID:9772287	20190107	RGD		associated with colorectal cancer	
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:9002805	Enterocolitis		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enterocolitis	PMID:25741868
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305608	Adgrb1	adhesion G protein-coupled receptor B1	gene	DOID:9256	colorectal cancer		ISO	RGD:1313737	D	RGD:13831353|PMID:9772287	20190107	RGD		mRNA:decreased expression:colorectum	
1305609	Shcbp1l	SHC binding and spindle associated 1 like	gene	DOID:10283	prostate cancer		ISO	RGD:1313739	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305609	Shcbp1l	SHC binding and spindle associated 1 like	gene	DOID:10283	prostate cancer		ISO	RGD:1313739	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305609	Shcbp1l	SHC binding and spindle associated 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1313739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305609	Shcbp1l	SHC binding and spindle associated 1 like	gene	DOID:1909	melanoma		ISO	RGD:1313739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305609	Shcbp1l	SHC binding and spindle associated 1 like	gene	DOID:3275	thymoma		ISO	RGD:1313739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:1115	sarcoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:3275	thymoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313741	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1313741	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305610	Sh3tc1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305613	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305613	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:10316	pneumoconiosis		ISO	RGD:1602314	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
1305613	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1305613	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305613	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:1324	lung cancer		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305613	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:3275	thymoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305613	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305613	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:4362	cervical cancer		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305613	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:5041	esophageal cancer		ISO	RGD:1602314	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305613	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305613	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305613	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305613	Spns1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305614	Igf2bp2	insulin-like growth factor 2 mRNA binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305614	Igf2bp2	insulin-like growth factor 2 mRNA binding protein 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1606569	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1305614	Igf2bp2	insulin-like growth factor 2 mRNA binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305614	Igf2bp2	insulin-like growth factor 2 mRNA binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305614	Igf2bp2	insulin-like growth factor 2 mRNA binding protein 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1606569	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35226250
1305614	Igf2bp2	insulin-like growth factor 2 mRNA binding protein 2	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1606569	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35226250
1305614	Igf2bp2	insulin-like growth factor 2 mRNA binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305614	Igf2bp2	insulin-like growth factor 2 mRNA binding protein 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1606569	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: marker/mechanism	
1305614	Igf2bp2	insulin-like growth factor 2 mRNA binding protein 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1606569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS, SUSCEPTIBILITY TO	
1305614	Igf2bp2	insulin-like growth factor 2 mRNA binding protein 2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1606569	D	RGD:7240710	20230505	OMIM			
1305615	Armc9	armadillo repeat containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305615	Armc9	armadillo repeat containing 9	gene	DOID:0050453	lissencephaly		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrogyria	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
1305615	Armc9	armadillo repeat containing 9	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert Syndrome | ClinVar Annotator: match by term: Joubert syndrome	PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318
1305615	Armc9	armadillo repeat containing 9	gene	DOID:0050847	sleep apnea		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
1305615	Armc9	armadillo repeat containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305615	Armc9	armadillo repeat containing 9	gene	DOID:0060260	ptosis		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
1305615	Armc9	armadillo repeat containing 9	gene	DOID:0080275	Joubert syndrome 30		ISO	RGD:1604597	D	RGD:7240710	20190315	OMIM			
1305615	Armc9	armadillo repeat containing 9	gene	DOID:0080275	Joubert syndrome 30		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARMC9-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 30 | ClinVar Annotator: match by term: Joubert syndrome 30	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28625504|PMID:29159890|PMID:31474318|PMID:35186037|PMID:9536098
1305615	Armc9	armadillo repeat containing 9	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318
1305615	Armc9	armadillo repeat containing 9	gene	DOID:10534	stomach cancer		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305615	Armc9	armadillo repeat containing 9	gene	DOID:1059	intellectual disability		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
1305615	Armc9	armadillo repeat containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305615	Armc9	armadillo repeat containing 9	gene	DOID:11193	syndactyly		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
1305615	Armc9	armadillo repeat containing 9	gene	DOID:11383	cryptorchidism		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
1305615	Armc9	armadillo repeat containing 9	gene	DOID:1143	exotropia		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
1305615	Armc9	armadillo repeat containing 9	gene	DOID:1148	polydactyly		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
1305615	Armc9	armadillo repeat containing 9	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1305615	Armc9	armadillo repeat containing 9	gene	DOID:1324	lung cancer		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305615	Armc9	armadillo repeat containing 9	gene	DOID:1909	melanoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305615	Armc9	armadillo repeat containing 9	gene	DOID:2340	craniosynostosis		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
1305615	Armc9	armadillo repeat containing 9	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1604597	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318
1305615	Armc9	armadillo repeat containing 9	gene	DOID:3310	atopic dermatitis		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dermatitis, atopic	PMID:25741868
1305615	Armc9	armadillo repeat containing 9	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
1305615	Armc9	armadillo repeat containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305615	Armc9	armadillo repeat containing 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305615	Armc9	armadillo repeat containing 9	gene	DOID:630	genetic disease		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305615	Armc9	armadillo repeat containing 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305615	Armc9	armadillo repeat containing 9	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1305615	Armc9	armadillo repeat containing 9	gene	DOID:9000343	Vision Disorders		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
1305615	Armc9	armadillo repeat containing 9	gene	DOID:9001118	Equinus Deformity		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Talipes equinovalgus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
1305615	Armc9	armadillo repeat containing 9	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1305615	Armc9	armadillo repeat containing 9	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:25741868
1305615	Armc9	armadillo repeat containing 9	gene	DOID:9003133	Hypertelorism		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1305615	Armc9	armadillo repeat containing 9	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
1305615	Armc9	armadillo repeat containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305615	Armc9	armadillo repeat containing 9	gene	DOID:9007661	Dwarfism		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1305615	Armc9	armadillo repeat containing 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305615	Armc9	armadillo repeat containing 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305615	Armc9	armadillo repeat containing 9	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1305615	Armc9	armadillo repeat containing 9	gene	DOID:9837	hypertropia		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertropia	PMID:25741868
1305616	Spag6	sperm associated antigen 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305616	Spag6	sperm associated antigen 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305616	Spag6	sperm associated antigen 6	gene	DOID:1909	melanoma		ISO	RGD:1313749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305616	Spag6	sperm associated antigen 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305616	Spag6	sperm associated antigen 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305617	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305617	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:10534	stomach cancer		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305617	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305617	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:3070	high grade glioma		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305617	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:3275	thymoma		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305617	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305617	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305617	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:4362	cervical cancer		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305617	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305617	Marchf5	membrane associated ring-CH-type finger 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305619	Ndufab1	NADH:ubiquinone oxidoreductase subunit AB1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305619	Ndufab1	NADH:ubiquinone oxidoreductase subunit AB1	gene	DOID:10534	stomach cancer		ISO	RGD:1313754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305619	Ndufab1	NADH:ubiquinone oxidoreductase subunit AB1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305619	Ndufab1	NADH:ubiquinone oxidoreductase subunit AB1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305619	Ndufab1	NADH:ubiquinone oxidoreductase subunit AB1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:10534	stomach cancer		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:1909	melanoma		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:3070	high grade glioma		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:3275	thymoma		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:4362	cervical cancer		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1313758	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305621	Usp20	ubiquitin specific peptidase 20	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305622	Bod1	biorientation of chromosomes in cell division 1	gene	DOID:1059	intellectual disability		ISO	RGD:1348370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1305622	Bod1	biorientation of chromosomes in cell division 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305622	Bod1	biorientation of chromosomes in cell division 1	gene	DOID:1115	sarcoma		ISO	RGD:1348370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305622	Bod1	biorientation of chromosomes in cell division 1	gene	DOID:1826	epilepsy		ISO	RGD:1348370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1305622	Bod1	biorientation of chromosomes in cell division 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305622	Bod1	biorientation of chromosomes in cell division 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305622	Bod1	biorientation of chromosomes in cell division 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305622	Bod1	biorientation of chromosomes in cell division 1	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1348370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	
1305622	Bod1	biorientation of chromosomes in cell division 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1348370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1305622	Bod1	biorientation of chromosomes in cell division 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305622	Bod1	biorientation of chromosomes in cell division 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:0070309	absence epilepsy		ISO	RGD:1313761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1313761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:0111492	combined oxidative phosphorylation deficiency 32		ISO	RGD:1313761	D	RGD:7240710	20190315	OMIM			
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:0111492	combined oxidative phosphorylation deficiency 32		ISO	RGD:1313761	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 | ClinVar Annotator: match by term: MRPS34-related condition	PMID:25741868|PMID:28492532|PMID:2877793|PMID:28777931|PMID:32445240|PMID:34052969
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:10376	amblyopia		ISO	RGD:1313761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:1059	intellectual disability		ISO	RGD:1313761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:1205	allergic disease		ISO	RGD:1313761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:1313761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:5723	optic atrophy		ISO	RGD:1313761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:630	genetic disease		ISO	RGD:1313761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:36413997
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:9003816	Macrocephaly		ISO	RGD:1313761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:9004538	Hearing Loss		ISO	RGD:1313761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1313761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1313761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969
1305623	Mrps34	mitochondrial ribosomal protein S34	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1313761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:28492532|PMID:28777931|PMID:32445240|PMID:34052969
1305624	Palmd	palmdelphin	gene	DOID:10534	stomach cancer		ISO	RGD:1313763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305624	Palmd	palmdelphin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305624	Palmd	palmdelphin	gene	DOID:5041	esophageal cancer		ISO	RGD:1313763	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305624	Palmd	palmdelphin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305624	Palmd	palmdelphin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313763	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305624	Palmd	palmdelphin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305625	Tmem123	transmembrane protein 123	gene	DOID:0080600	COVID-19		ISO	RGD:1605596	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1305625	Tmem123	transmembrane protein 123	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305625	Tmem123	transmembrane protein 123	gene	DOID:1115	sarcoma		ISO	RGD:1605596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305625	Tmem123	transmembrane protein 123	gene	DOID:3275	thymoma		ISO	RGD:1605596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305625	Tmem123	transmembrane protein 123	gene	DOID:4362	cervical cancer		ISO	RGD:1605596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305625	Tmem123	transmembrane protein 123	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305625	Tmem123	transmembrane protein 123	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305626	Taf11	TATA-box binding protein associated factor 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305626	Taf11	TATA-box binding protein associated factor 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305626	Taf11	TATA-box binding protein associated factor 11	gene	DOID:1909	melanoma		ISO	RGD:1313766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305626	Taf11	TATA-box binding protein associated factor 11	gene	DOID:4362	cervical cancer		ISO	RGD:1313766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305626	Taf11	TATA-box binding protein associated factor 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1313766	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305626	Taf11	TATA-box binding protein associated factor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305626	Taf11	TATA-box binding protein associated factor 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305626	Taf11	TATA-box binding protein associated factor 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305628	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305628	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305628	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305628	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305628	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305628	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305628	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305628	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305628	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305628	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:2301266	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305628	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305628	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305628	Crybg3	crystallin beta-gamma domain containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:2301266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305629	Ctdsp1	CTD small phosphatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305629	Ctdsp1	CTD small phosphatase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305629	Ctdsp1	CTD small phosphatase 1	gene	DOID:1115	sarcoma		ISO	RGD:1313770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305629	Ctdsp1	CTD small phosphatase 1	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1313770	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1305629	Ctdsp1	CTD small phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305629	Ctdsp1	CTD small phosphatase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305629	Ctdsp1	CTD small phosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305629	Ctdsp1	CTD small phosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0050817	Stargardt disease		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stargardt disease	PMID:28492532
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0050817	Stargardt disease		ISS	RGD:1313773	D	RGD:13592920	20180518	MouseDO		OMIM:248200 | OMIM:600110 | OMIM:603786	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0050952	spastic ataxia		ISO	RGD:1313772	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0050981	spinocerebellar ataxia 34		ISO	RGD:1313772	D	RGD:7240710	20180425	OMIM			
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0050981	spinocerebellar ataxia 34		ISO	RGD:1313772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia type 34	PMID:15930014|PMID:24566826|PMID:25741868|PMID:28492532|PMID:28559085|PMID:30065956|PMID:30982505|PMID:31105016|PMID:31616255|PMID:31692161|PMID:31750392|PMID:32211516|PMID:32780351|PMID:33556440|PMID:34234304|PMID:34623043|PMID:37787810
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0061238	Stargardt disease 3		ISO	RGD:1313772	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0061238	Stargardt disease 3		ISO	RGD:1313772	D	RGD:7240710	20130221	OMIM			
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0061238	Stargardt disease 3		ISO	RGD:1313772	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STARGARDT DISEASE 3 | ClinVar Annotator: match by term: STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Stargardt disease 3	PMID:15557430|PMID:15930014|PMID:24566826|PMID:25741868|PMID:27116512|PMID:28492532|PMID:28559085|PMID:31692161|PMID:31750392|PMID:32211516|PMID:33546218|PMID:34073554
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:11155	hypohidrosis		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:1588	thrombocytopenia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:1909	melanoma		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:2566	corneal dystrophy		ISO	RGD:1313772	D	RGD:1598895|PMID:11726641	20061220	RGD			
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:630	genetic disease		ISO	RGD:1313772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:83	cataract		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:8947	diabetic retinopathy		IEP		D	RGD:617212661|PMID:24736612	20250714	RGD		mRNA:altered expression:retina	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9000495	Tremor		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: tremors	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9000515	Ichthyosis, Spastic Quadriplegia, and Mental Retardation		ISO	RGD:1313772	D	RGD:7240710	20140911	OMIM			
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9000515	Ichthyosis, Spastic Quadriplegia, and Mental Retardation		ISO	RGD:1313772	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION	PMID:11138005|PMID:15930014|PMID:22100072|PMID:23509295|PMID:24566826|PMID:24833735|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31692161|PMID:31750392|PMID:32211516
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9001722	Dysarthria		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9003286	Diplopia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diplopia	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9004484	Sepsis		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sepsis	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9004866	Ataxia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532|PMID:30065956|PMID:30982505|PMID:31105016|PMID:31616255|PMID:32780351|PMID:33556440|PMID:34234304|PMID:34623043
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:963	episodic ataxia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	
1305630	Elovl4	ELOVL fatty acid elongase 4	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1305631	Cox19	cytochrome c oxidase assembly factor COX19	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305631	Cox19	cytochrome c oxidase assembly factor COX19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305631	Cox19	cytochrome c oxidase assembly factor COX19	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:1115	sarcoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1313775	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1313775	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:5419	schizophrenia		IEP		D	RGD:9586022|PMID:23932495	20140924	RGD			
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313775	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:26539891
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305632	Ash2l	ASH2 like histone lysine methyltransferase complex subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305633	Rrp1b	ribosomal RNA processing 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305633	Rrp1b	ribosomal RNA processing 1B	gene	DOID:1324	lung cancer		ISO	RGD:1313777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305633	Rrp1b	ribosomal RNA processing 1B	gene	DOID:3070	high grade glioma		ISO	RGD:1313777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305633	Rrp1b	ribosomal RNA processing 1B	gene	DOID:3275	thymoma		ISO	RGD:1313777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305633	Rrp1b	ribosomal RNA processing 1B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305633	Rrp1b	ribosomal RNA processing 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305633	Rrp1b	ribosomal RNA processing 1B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305633	Rrp1b	ribosomal RNA processing 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305633	Rrp1b	ribosomal RNA processing 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305633	Rrp1b	ribosomal RNA processing 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313777	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305633	Rrp1b	ribosomal RNA processing 1B	gene	DOID:9256	colorectal cancer		ISO	RGD:1313777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305634	Ddx27	DEAD-box helicase 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305634	Ddx27	DEAD-box helicase 27	gene	DOID:10534	stomach cancer		ISO	RGD:1313779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305634	Ddx27	DEAD-box helicase 27	gene	DOID:1324	lung cancer		ISO	RGD:1313779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305634	Ddx27	DEAD-box helicase 27	gene	DOID:1909	melanoma		ISO	RGD:1313779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305634	Ddx27	DEAD-box helicase 27	gene	DOID:3275	thymoma		ISO	RGD:1313779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305634	Ddx27	DEAD-box helicase 27	gene	DOID:4362	cervical cancer		ISO	RGD:1313779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305634	Ddx27	DEAD-box helicase 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1313779	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305634	Ddx27	DEAD-box helicase 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305634	Ddx27	DEAD-box helicase 27	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305634	Ddx27	DEAD-box helicase 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305634	Ddx27	DEAD-box helicase 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305634	Ddx27	DEAD-box helicase 27	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305635	Il1f10	interleukin 1 family member 10	gene	DOID:10534	stomach cancer		ISO	RGD:1313781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305636	Zfp410	zinc finger protein 410	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305636	Zfp410	zinc finger protein 410	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305636	Zfp410	zinc finger protein 410	gene	DOID:10534	stomach cancer		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305636	Zfp410	zinc finger protein 410	gene	DOID:1909	melanoma		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305636	Zfp410	zinc finger protein 410	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305636	Zfp410	zinc finger protein 410	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305636	Zfp410	zinc finger protein 410	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305636	Zfp410	zinc finger protein 410	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305636	Zfp410	zinc finger protein 410	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1313785	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583980
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:10534	stomach cancer		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:1909	melanoma		ISO	RGD:1313785	D	RGD:152995261|PMID:25231748	20220610	RGD		DNA:SNP:cds:rs9420907|rs2995264 (human)	
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:3275	thymoma		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1313785	D	RGD:11554173	20221213	CTD		CTD Direct Evidence: marker/mechanism	PMID:28346442
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:4362	cervical cancer		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:630	genetic disease		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:9003025	Cerebroretinal Microangiopathy with Calcifications and Cysts		ISO	RGD:1313785	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1313785	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28604730
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:9005983	Cerebroretinal Microangiopathy with Calcifications and Cysts 2		ISO	RGD:1313785	D	RGD:7240710	20190315	OMIM			
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:9005983	Cerebroretinal Microangiopathy with Calcifications and Cysts 2		ISO	RGD:1313785	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition	PMID:25741868|PMID:27432940|PMID:28492532|PMID:28934486|PMID:32135276
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305637	Stn1	STN1 subunit of CST complex	gene	DOID:936	brain disease		ISO	RGD:1313785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brain disorder	
1305638	Tmem50a	transmembrane protein 50A	gene	DOID:10534	stomach cancer		ISO	RGD:1606813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305638	Tmem50a	transmembrane protein 50A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305638	Tmem50a	transmembrane protein 50A	gene	DOID:1324	lung cancer		ISO	RGD:1606813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305638	Tmem50a	transmembrane protein 50A	gene	DOID:3275	thymoma		ISO	RGD:1606813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305638	Tmem50a	transmembrane protein 50A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305638	Tmem50a	transmembrane protein 50A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305638	Tmem50a	transmembrane protein 50A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305641	Adprhl1	ADP-ribosylhydrolase like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305641	Adprhl1	ADP-ribosylhydrolase like 1	gene	DOID:1115	sarcoma		ISO	RGD:1313790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305641	Adprhl1	ADP-ribosylhydrolase like 1	gene	DOID:3275	thymoma		ISO	RGD:1313790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305641	Adprhl1	ADP-ribosylhydrolase like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305641	Adprhl1	ADP-ribosylhydrolase like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305641	Adprhl1	ADP-ribosylhydrolase like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305642	Ormdl2	ORMDL sphingolipid biosynthesis regulator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305642	Ormdl2	ORMDL sphingolipid biosynthesis regulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305642	Ormdl2	ORMDL sphingolipid biosynthesis regulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305643	Ctnnd1	catenin delta 1	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1313793	D	RGD:11526681|PMID:26464646	20190111	RGD			
1305643	Ctnnd1	catenin delta 1	gene	DOID:0080346	blepharocheilodontic syndrome 2		ISO	RGD:1313793	D	RGD:7240710	20190315	OMIM			
1305643	Ctnnd1	catenin delta 1	gene	DOID:0080600	COVID-19		ISO	RGD:1313793	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305643	Ctnnd1	catenin delta 1	gene	DOID:6432	pulmonary hypertension	treatment	IEP		D	RGD:38500244|PMID:25593290	20200924	RGD			
1305643	Ctnnd1	catenin delta 1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1313793	D	RGD:38500244|PMID:25593290	20200924	RGD		protein:decreased expression:lung	
1305643	Ctnnd1	catenin delta 1	gene	DOID:9006102	Right Ventricular Hypertrophy	treatment	IEP		D	RGD:38500244|PMID:25593290	20200924	RGD			
1305644	Ube2e2	ubiquitin-conjugating enzyme E2E 2	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:1346022	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27914986
1305644	Ube2e2	ubiquitin-conjugating enzyme E2E 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346022	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27914986
1305644	Ube2e2	ubiquitin-conjugating enzyme E2E 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305644	Ube2e2	ubiquitin-conjugating enzyme E2E 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305644	Ube2e2	ubiquitin-conjugating enzyme E2E 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1346022	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20818381
1305644	Ube2e2	ubiquitin-conjugating enzyme E2E 2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1346022	D	RGD:401850598|PMID:27281273	20231024	RGD		associated with Environmental Illness; DNA:SNP:: (rs1496653) (human)	
1305646	Chit1	chitinase 1	gene	DOID:0050073	invasive aspergillosis		IDA		D	RGD:631723613|PMID:24155872	20260122	RGD		protein:increased expression:lung	
1305646	Chit1	chitinase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1313797	D	RGD:629122702|PMID:35679109	20251216	RGD		protein:increased expression:lung	
1305646	Chit1	chitinase 1	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1313797	D	RGD:629142810|PMID:22826322	20260116	RGD		associated with systemic scleroderma;protein:increased expression:blood serum, lung	
1305646	Chit1	chitinase 1	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1313797	D	RGD:632518424|PMID:35122869	20260216	RGD		mRNA:increased expression:lung	
1305646	Chit1	chitinase 1	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1313797	D	RGD:632518426|PMID:17631992	20260216	RGD		protein:increased expression:respiratory system fluid/secretion	
1305646	Chit1	chitinase 1	gene	DOID:0050156	idiopathic pulmonary fibrosis	treatment	ISO	RGD:1313797	D	RGD:629142809|PMID:35222369	20260102	RGD			
1305646	Chit1	chitinase 1	gene	DOID:0050156	idiopathic pulmonary fibrosis	treatment	ISO	RGD:1313798	D	RGD:629122705|PMID:33078933	20251216	RGD			
1305646	Chit1	chitinase 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	IEP		D	RGD:645122464|PMID:40510344	20260403	RGD			
1305646	Chit1	chitinase 1	gene	DOID:1024	leprosy		ISO	RGD:1313797	D	RGD:629136822|PMID:26635870	20251222	RGD		mRNA:increased expression:skin of body	
1305646	Chit1	chitinase 1	gene	DOID:10320	asbestosis		ISO	RGD:1313797	D	RGD:629136824|PMID:19347743	20251222	RGD		protein:increased expression:blood serum	
1305646	Chit1	chitinase 1	gene	DOID:10325	silicosis		ISO	RGD:1313797	D	RGD:629136829|PMID:37733997	20251222	RGD		protein:increased expression:blood serum	
1305646	Chit1	chitinase 1	gene	DOID:11162	respiratory failure		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:11335	sarcoidosis	disease_progression	ISO	RGD:1313797	D	RGD:632518426|PMID:17631992	20260224	RGD		protein:increased expression:respiratory system fluid/secretion	
1305646	Chit1	chitinase 1	gene	DOID:11830	myopia		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:1205	allergic disease		ISO	RGD:1313797	D	RGD:629136819|PMID:17693102	20251222	RGD		DNA:insertion:exon	
1305646	Chit1	chitinase 1	gene	DOID:1247	blood coagulation disease		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1313797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305646	Chit1	chitinase 1	gene	DOID:13272	Klebsiella pneumonia		ISO	RGD:1313798	D	RGD:630350573|PMID:29891554	20260116	RGD		protein:decreased expression:respiratory system fluid/secretion	
1305646	Chit1	chitinase 1	gene	DOID:13564	aspergillosis		ISO	RGD:1313797	D	RGD:629122706|PMID:32184111	20260116	RGD		associated with brochiectasis;protein:increased expression:blood serum	
1305646	Chit1	chitinase 1	gene	DOID:1485	cystic fibrosis		ISO	RGD:1313797	D	RGD:630350391|PMID:27056270	20260109	RGD		protein:increased expression:blood serum	
1305646	Chit1	chitinase 1	gene	DOID:1508	candidiasis		ISO	RGD:1313797	D	RGD:630350391|PMID:27056270	20260126	RGD		associated with cystic fibrosis;protein:increased expression:blood serum, respiratory system fluid/secretion	
1305646	Chit1	chitinase 1	gene	DOID:1508	candidiasis	susceptibility	ISO	RGD:1313797	D	RGD:630350391|PMID:27056270	20260126	RGD		associated with cystic fibrosis;DNA:duplication: :rs3831317	
1305646	Chit1	chitinase 1	gene	DOID:1926	Gaucher's disease		ISO	RGD:1313797	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17464953
1305646	Chit1	chitinase 1	gene	DOID:1926	Gaucher's disease		ISO	RGD:1313797	D	RGD:630350391|PMID:27056270	20260126	RGD		protein:increased expression:blood serum	
1305646	Chit1	chitinase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305646	Chit1	chitinase 1	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:1313797	D	RGD:630350389|PMID:21159721	20260109	RGD		protein:increased expression:cerebrospinal fluid	
1305646	Chit1	chitinase 1	gene	DOID:2841	asthma		ISO	RGD:1313797	D	RGD:11098501|PMID:26372680	20251216	RGD		protein:increased expression:blood serum	
1305646	Chit1	chitinase 1	gene	DOID:2841	asthma	treatment	ISO	RGD:1313798	D	RGD:629136821|PMID:36934237	20251222	RGD			
1305646	Chit1	chitinase 1	gene	DOID:2841	asthma	treatment	ISO	RGD:1313798	D	RGD:629136823|PMID:37890698	20251222	RGD		associated with obesity	
1305646	Chit1	chitinase 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1313797	D	RGD:631723615|PMID:22956876	20260122	RGD		protein:increased expression:blood serum	
1305646	Chit1	chitinase 1	gene	DOID:2957	pulmonary tuberculosis	treatment	ISO	RGD:1313797	D	RGD:629136828|PMID:22563552	20251222	RGD		Protein:increased expression:blood, serum	
1305646	Chit1	chitinase 1	gene	DOID:3082	interstitial lung disease	severity	ISO	RGD:1313797	D	RGD:629136825|PMID:31092718	20251222	RGD		associated with dermatomyositis;protein:increased expression:blood serum	
1305646	Chit1	chitinase 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1313797	D	RGD:11098501|PMID:26372680	20251216	RGD		protein:increased expression:blood, serum	
1305646	Chit1	chitinase 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1313797	D	RGD:629122706|PMID:32184111	20260116	RGD		protein:increased expression:blood serum	
1305646	Chit1	chitinase 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1313797	D	RGD:632518368|PMID:19491341	20260206	RGD		mRNA, protein:increased expression:lung	
1305646	Chit1	chitinase 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1313797	D	RGD:632518417|PMID:20042671	20260216	RGD		protein:increased expression:lung, respiratory system fluid/secretion	
1305646	Chit1	chitinase 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1313797	D	RGD:632518425|PMID:31413557	20260216	RGD		mRNA, protein:increased expression:peripheral blood mononuclear cells, sputum	
1305646	Chit1	chitinase 1	gene	DOID:3083	chronic obstructive pulmonary disease	no_association	ISO	RGD:1313797	D	RGD:629136818|PMID:36497025	20251222	RGD			
1305646	Chit1	chitinase 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1313797	D	RGD:629136824|PMID:19347743	20251222	RGD		protein:increased expression:blood serum	
1305646	Chit1	chitinase 1	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:1313798	D	RGD:629122702|PMID:35679109	20260102	RGD			
1305646	Chit1	chitinase 1	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:1313798	D	RGD:629136821|PMID:36934237	20260119	RGD			
1305646	Chit1	chitinase 1	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:1313798	D	RGD:632518424|PMID:35122869	20260216	RGD			
1305646	Chit1	chitinase 1	gene	DOID:399	tuberculosis		ISO	RGD:1313797	D	RGD:629136819|PMID:17693102	20251222	RGD		DNA:insertion:exon	
1305646	Chit1	chitinase 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:1313797	D	RGD:5037226|PMID:20422678	20251222	RGD		mRNA, protein:increased expression:nasal cavity mucosa	
1305646	Chit1	chitinase 1	gene	DOID:480	movement disease		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:8869	neuromyelitis optica		ISO	RGD:1313797	D	RGD:630350389|PMID:21159721	20260109	RGD		protein:increased expression:cerebrospinal fluid	
1305646	Chit1	chitinase 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1313797	D	RGD:630350387|PMID:19786213	20260109	RGD		mRNA, protein:increased expression:inferior nasal concha	
1305646	Chit1	chitinase 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1313797	D	RGD:631723612|PMID:21711963	20260122	RGD		protein:increased expression:nasal cavity mucosa	
1305646	Chit1	chitinase 1	gene	DOID:9002331	Knee Osteoarthritis		IEP		D	RGD:645122466|PMID:25308850	20260403	RGD		protein:increased expression:condyle of femur, chondrocyte	
1305646	Chit1	chitinase 1	gene	DOID:9002457	Experimental Arthritis	treatment	IEP		D	RGD:645122465|PMID:35094663	20260403	RGD			
1305646	Chit1	chitinase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:9003219	Invasive Pulmonary Aspergillosis	treatment	ISO	RGD:1313798	D	RGD:629136820|PMID:33468116	20251222	RGD			
1305646	Chit1	chitinase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:9004182	CHITOTRIOSIDASE DEFICIENCY		ISO	RGD:1313797	D	RGD:7240710	20190315	OMIM			
1305646	Chit1	chitinase 1	gene	DOID:9004182	CHITOTRIOSIDASE DEFICIENCY		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chitotriosidase deficiency	PMID:17464953|PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:17464953|PMID:25741868|PMID:28492532|PMID:9748235
1305646	Chit1	chitinase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:9005723	Multibacillary Leprosy		ISO	RGD:1313797	D	RGD:630350390|PMID:19307157	20260109	RGD		protein:increased expression:blood serum	
1305646	Chit1	chitinase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1305646	Chit1	chitinase 1	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	IEP		D	RGD:645122463|PMID:39700960	20260403	RGD			
1305646	Chit1	chitinase 1	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:1313798	D	RGD:630350573|PMID:29891554	20260116	RGD		protein:decreased expression:respiratory system fluid/secretion	
1305646	Chit1	chitinase 1	gene	DOID:9007432	Latent Tuberculosis		ISO	RGD:1313797	D	RGD:629136819|PMID:17693102	20260116	RGD		DNA:insertion:exon	
1305646	Chit1	chitinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1305646	Chit1	chitinase 1	gene	DOID:9360	intrinsic asthma		ISO	RGD:1313797	D	RGD:630350388|PMID:20090309	20260109	RGD		protein:increased expression:blood, serum	
1305646	Chit1	chitinase 1	gene	DOID:9415	allergic asthma		ISO	RGD:1313797	D	RGD:629122703|PMID:29420850	20251216	RGD		protein:increased expression:sputum	
1305646	Chit1	chitinase 1	gene	DOID:9415	allergic asthma		ISO	RGD:1313798	D	RGD:629122703|PMID:29420850	20251216	RGD		mRNA, protein:increased expression:lung	
1305646	Chit1	chitinase 1	gene	DOID:9415	allergic asthma	severity	ISO	RGD:1313797	D	RGD:629122704|PMID:29572197	20251216	RGD		protein:increased expression:blood serum	
1305646	Chit1	chitinase 1	gene	DOID:9563	bronchiectasis	severity	ISO	RGD:1313797	D	RGD:629122706|PMID:32184111	20251216	RGD		protein:increased expression:blood serum	
1305646	Chit1	chitinase 1	gene	DOID:9834	hyperopia		ISO	RGD:1313797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1305647	Tmem62	transmembrane protein 62	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305647	Tmem62	transmembrane protein 62	gene	DOID:10534	stomach cancer		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305647	Tmem62	transmembrane protein 62	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305647	Tmem62	transmembrane protein 62	gene	DOID:1115	sarcoma		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305647	Tmem62	transmembrane protein 62	gene	DOID:1909	melanoma		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305647	Tmem62	transmembrane protein 62	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305647	Tmem62	transmembrane protein 62	gene	DOID:3275	thymoma		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305647	Tmem62	transmembrane protein 62	gene	DOID:4362	cervical cancer		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305647	Tmem62	transmembrane protein 62	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305647	Tmem62	transmembrane protein 62	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305647	Tmem62	transmembrane protein 62	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305648	Fbxo7	F-box protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305648	Fbxo7	F-box protein 7	gene	DOID:0060372	Parkinson's disease 15		ISO	RGD:1313800	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25029497
1305648	Fbxo7	F-box protein 7	gene	DOID:0060372	Parkinson's disease 15		ISO	RGD:1313800	D	RGD:7240710	20131030	OMIM			
1305648	Fbxo7	F-box protein 7	gene	DOID:0060372	Parkinson's disease 15		ISO	RGD:1313800	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET | ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome	PMID:16199547|PMID:17576681|PMID:19038853|PMID:20603184|PMID:21347293|PMID:23352116|PMID:23933751|PMID:24112787|PMID:25029497|PMID:25085748|PMID:25169713|PMID:25174650|PMID:25741868|PMID:26310625|PMID:26882974|PMID:27294386|PMID:27503909|PMID:27861377|PMID:28492532|PMID:29174172|PMID:30502028|PMID:31965297|PMID:32707456|PMID:36703223|PMID:36879366|PMID:37139776|PMID:37750340|PMID:9536098
1305648	Fbxo7	F-box protein 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305648	Fbxo7	F-box protein 7	gene	DOID:1115	sarcoma		ISO	RGD:1313800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305648	Fbxo7	F-box protein 7	gene	DOID:1324	lung cancer		ISO	RGD:1313800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305648	Fbxo7	F-box protein 7	gene	DOID:14330	Parkinson's disease		ISO	RGD:1313800	D	RGD:10450518|PMID:26223426	20160115	RGD			
1305648	Fbxo7	F-box protein 7	gene	DOID:1909	melanoma		ISO	RGD:1313800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305648	Fbxo7	F-box protein 7	gene	DOID:3275	thymoma		ISO	RGD:1313800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305648	Fbxo7	F-box protein 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305648	Fbxo7	F-box protein 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305648	Fbxo7	F-box protein 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1313800	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305648	Fbxo7	F-box protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305648	Fbxo7	F-box protein 7	gene	DOID:630	genetic disease		ISO	RGD:1313800	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305648	Fbxo7	F-box protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305648	Fbxo7	F-box protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305648	Fbxo7	F-box protein 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532|PMID:32707456
1305648	Fbxo7	F-box protein 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305649	Xkr8	XK related 8	gene	DOID:1324	lung cancer		ISO	RGD:1602706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305649	Xkr8	XK related 8	gene	DOID:3275	thymoma		ISO	RGD:1602706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305650	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305650	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:0080600	COVID-19		ISO	RGD:1313803	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305650	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:10534	stomach cancer		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305650	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:1793	pancreatic cancer		ISO	RGD:1313803	D	RGD:2317701|PMID:16434023	20100416	RGD			
1305650	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:1909	melanoma		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305650	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:4362	cervical cancer		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305650	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:5041	esophageal cancer		ISO	RGD:1313803	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305650	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305650	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305650	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305650	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305650	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305650	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1305650	Mgat4a	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305651	Ccnq	cyclin Q	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305651	Ccnq	cyclin Q	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305651	Ccnq	cyclin Q	gene	DOID:0111931	syndactyly-telecanthus-anogenital and renal malformations syndrome		ISO	RGD:1604257	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:18297069
1305651	Ccnq	cyclin Q	gene	DOID:0111931	syndactyly-telecanthus-anogenital and renal malformations syndrome		ISO	RGD:1604257	D	RGD:7240710	20130619	OMIM			
1305651	Ccnq	cyclin Q	gene	DOID:0111931	syndactyly-telecanthus-anogenital and renal malformations syndrome		ISO	RGD:1604257	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STAR SYNDROME | ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome	PMID:25741868
1305651	Ccnq	cyclin Q	gene	DOID:1909	melanoma		ISO	RGD:1604257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305651	Ccnq	cyclin Q	gene	DOID:4362	cervical cancer		ISO	RGD:1604257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305651	Ccnq	cyclin Q	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305651	Ccnq	cyclin Q	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305652	Mkx	mohawk homeobox	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305652	Mkx	mohawk homeobox	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305652	Mkx	mohawk homeobox	gene	DOID:1115	sarcoma		ISO	RGD:1313806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305652	Mkx	mohawk homeobox	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305652	Mkx	mohawk homeobox	gene	DOID:9003295	Heterotopic Ossification		IMP		D	RGD:40924660|PMID:27370800	20210415	RGD		compared to Wistar	
1305652	Mkx	mohawk homeobox	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305652	Mkx	mohawk homeobox	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305653	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305653	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305653	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305653	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305653	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305653	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1642918	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305653	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305653	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305653	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305653	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305653	Pear1	platelet endothelial aggregation receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1642918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305654	Dctn5	dynactin subunit 5	gene	DOID:1115	sarcoma		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305654	Dctn5	dynactin subunit 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305654	Dctn5	dynactin subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305654	Dctn5	dynactin subunit 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305654	Dctn5	dynactin subunit 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305654	Dctn5	dynactin subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305656	Igfbpl1	insulin-like growth factor binding protein-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1313812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305656	Igfbpl1	insulin-like growth factor binding protein-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305656	Igfbpl1	insulin-like growth factor binding protein-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305657	Ppp2r5e	protein phosphatase 2 regulatory subunit B', epsilon	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305657	Ppp2r5e	protein phosphatase 2 regulatory subunit B', epsilon	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305657	Ppp2r5e	protein phosphatase 2 regulatory subunit B', epsilon	gene	DOID:1115	sarcoma		ISO	RGD:1313814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305657	Ppp2r5e	protein phosphatase 2 regulatory subunit B', epsilon	gene	DOID:1909	melanoma		ISO	RGD:1313814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305657	Ppp2r5e	protein phosphatase 2 regulatory subunit B', epsilon	gene	DOID:224	transient cerebral ischemia	treatment	IEP		D	RGD:155791663|PMID:30712471	20230104	RGD			
1305657	Ppp2r5e	protein phosphatase 2 regulatory subunit B', epsilon	gene	DOID:4362	cervical cancer		ISO	RGD:1313814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305657	Ppp2r5e	protein phosphatase 2 regulatory subunit B', epsilon	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305657	Ppp2r5e	protein phosphatase 2 regulatory subunit B', epsilon	gene	DOID:5041	esophageal cancer		ISO	RGD:1313814	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305657	Ppp2r5e	protein phosphatase 2 regulatory subunit B', epsilon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305657	Ppp2r5e	protein phosphatase 2 regulatory subunit B', epsilon	gene	DOID:9003882	Chromosomal Instability		ISO	RGD:1313814	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:25772433
1305657	Ppp2r5e	protein phosphatase 2 regulatory subunit B', epsilon	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1313814	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:25772433
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1313816	D	RGD:8554872	20240625	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:10534	stomach cancer		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:1059	intellectual disability		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:1115	sarcoma		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:12849	autistic disorder		ISO	RGD:1313816	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20663923
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:12849	autistic disorder		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:1324	lung cancer		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:4362	cervical cancer		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:5041	esophageal cancer		ISO	RGD:1313816	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:6039	uveal melanoma		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305658	Taf1c	TATA-box binding protein associated factor, RNA polymerase 1 subunit C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305660	Fbxl3	F-box and leucine-rich repeat protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305660	Fbxl3	F-box and leucine-rich repeat protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1343078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305660	Fbxl3	F-box and leucine-rich repeat protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305660	Fbxl3	F-box and leucine-rich repeat protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305660	Fbxl3	F-box and leucine-rich repeat protein 3	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1343078	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:18414213|PMID:24767253|PMID:25741868|PMID:28492532
1305660	Fbxl3	F-box and leucine-rich repeat protein 3	gene	DOID:9005631	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS		ISO	RGD:1343078	D	RGD:7240710	20190424	OMIM			
1305660	Fbxl3	F-box and leucine-rich repeat protein 3	gene	DOID:9005631	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS		ISO	RGD:1343078	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS | ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations	PMID:25741868
1305661	Fbxw5	F-box and WD repeat domain containing 5	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1313822	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1305661	Fbxw5	F-box and WD repeat domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1313822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305661	Fbxw5	F-box and WD repeat domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1313822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305661	Fbxw5	F-box and WD repeat domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305661	Fbxw5	F-box and WD repeat domain containing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305661	Fbxw5	F-box and WD repeat domain containing 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305661	Fbxw5	F-box and WD repeat domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305661	Fbxw5	F-box and WD repeat domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305662	Zfp143	zinc finger protein 143	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305662	Zfp143	zinc finger protein 143	gene	DOID:10534	stomach cancer		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305662	Zfp143	zinc finger protein 143	gene	DOID:1115	sarcoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305662	Zfp143	zinc finger protein 143	gene	DOID:1324	lung cancer		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305662	Zfp143	zinc finger protein 143	gene	DOID:1909	melanoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305662	Zfp143	zinc finger protein 143	gene	DOID:3070	high grade glioma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305662	Zfp143	zinc finger protein 143	gene	DOID:4362	cervical cancer		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305662	Zfp143	zinc finger protein 143	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305662	Zfp143	zinc finger protein 143	gene	DOID:5041	esophageal cancer		ISO	RGD:1313824	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305662	Zfp143	zinc finger protein 143	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305662	Zfp143	zinc finger protein 143	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1313824	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism	PMID:27349184
1305662	Zfp143	zinc finger protein 143	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305662	Zfp143	zinc finger protein 143	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305663	Rab40b	Rab40b, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305663	Rab40b	Rab40b, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313826	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305663	Rab40b	Rab40b, member RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:1313826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305663	Rab40b	Rab40b, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1313826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305663	Rab40b	Rab40b, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305663	Rab40b	Rab40b, member RAS oncogene family	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313826	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305663	Rab40b	Rab40b, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305663	Rab40b	Rab40b, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:1604841	D	RGD:401901275|PMID:36595475	20231207	RGD		mRNA:increased expression: (human)	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:10534	stomach cancer		ISO	RGD:1604841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:1324	lung cancer		ISO	RGD:1604841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:3070	high grade glioma		ISO	RGD:1604841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:3275	thymoma		ISO	RGD:1604841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:3905	lung carcinoma		ISO	RGD:1604841	D	RGD:401901290|PMID:28527113	20231208	RGD		mRNA:decreased expression:lung (human)	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604841	D	RGD:401901290|PMID:28527113	20231208	RGD		mRNA:decreased expression:lung (human)	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604841	D	RGD:401901290|PMID:28527113	20231208	RGD		mRNA:decreased expression:lung (human)	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:4362	cervical cancer		ISO	RGD:1604841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:4556	lung large cell carcinoma		ISO	RGD:1604841	D	RGD:401901290|PMID:28527113	20231208	RGD		mRNA:decreased expression:lung (human)	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:5041	esophageal cancer		ISO	RGD:1604841	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:635	acquired immunodeficiency syndrome	disease_progression	ISO	RGD:1604841	D	RGD:401901288|PMID:28069446	20231208	RGD		DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human)	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:635	acquired immunodeficiency syndrome	disease_progression	ISO	RGD:1604841	D	RGD:401901289|PMID:21107268	20231208	RGD		DNA:SNP:intron: (rs2072255) (human)	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1604841	D	RGD:401901276|PMID:31136984	20231207	RGD		protein:decreased expression:liver (human)	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:8923	skin melanoma	severity	ISO	RGD:1604841	D	RGD:401901274|PMID:28510328	20231207	RGD		DNA:SNP:intron: (rs72635537) (human)	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305664	Arhgap44	Rho GTPase activating protein 44	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:0080980	arthrogryposis multiplex congenita-4		ISO	RGD:1343640	D	RGD:7240710	20200318	OMIM			
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:0080980	arthrogryposis multiplex congenita-4		ISO	RGD:1343640	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | ClinVar Annotator: match by term: SCYL2-related disorder | ClinVar Annotator: match by term: arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	PMID:25741868|PMID:31960134
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1343640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1343640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:1909	melanoma		ISO	RGD:1343640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343640	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343640	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1343640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:630	genetic disease		ISO	RGD:1343640	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305665	Scyl2	SCY1 like pseudokinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:12356907|PMID:17189627|PMID:17586488|PMID:19348700|PMID:19504455|PMID:19834024|PMID:19854944|PMID:24549050|PMID:25348405|PMID:28492532|PMID:2981587
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:0081338	myofibrillar myopathy 11		ISO	RGD:1313830	D	RGD:7240710	20210303	OMIM			
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:0081338	myofibrillar myopathy 11		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MYOFIBRILLAR MYOPATHY 11 | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH ECCENTRIC CORES | ClinVar Annotator: match by term: Myofibrillar myopathy 11	PMID:25741868|PMID:33217308
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:0110259	cataract 43		ISO	RGD:1313830	D	RGD:7240710	20170301	OMIM			
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:0110259	cataract 43		ISO	RGD:1313830	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cataract 43 | ClinVar Annotator: match by term: UNC45B-related condition	PMID:25741868|PMID:28492532|PMID:31852522|PMID:33217308
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1313830	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:25741868
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:10534	stomach cancer		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:114	heart disease		ISO	RGD:1313830	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:17189627
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:4362	cervical cancer		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:5041	esophageal cancer		ISO	RGD:1313830	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:630	genetic disease		ISO	RGD:1313830	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12356907|PMID:17189627|PMID:17586488|PMID:19348700|PMID:19504455|PMID:19834024|PMID:19854944|PMID:24549050|PMID:25348405|PMID:25741868|PMID:28492532|PMID:2981587
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:9005246	Paralysis		ISO	RGD:1313830	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:17189627
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:12356907|PMID:17189627|PMID:17586488|PMID:19348700|PMID:19504455|PMID:19834024|PMID:19854944|PMID:24549050|PMID:25348405|PMID:28492532|PMID:2981587
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1313830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:12356907|PMID:17189627|PMID:17586488|PMID:19348700|PMID:19504455|PMID:19834024|PMID:19854944|PMID:24549050|PMID:25348405|PMID:28492532|PMID:2981587
1305666	Unc45b	unc-45 myosin chaperone B	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1313830	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:17189627
1305667	Vsx1	visual system homeobox 1	gene	DOID:0060457	posterior polymorphous corneal dystrophy		ISO	RGD:1313832	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy	PMID:11978762|PMID:16303937|PMID:18626569|PMID:21976959|PMID:22171159|PMID:24033266|PMID:25741868|PMID:26879370|PMID:28492532
1305667	Vsx1	visual system homeobox 1	gene	DOID:0110855	posterior polymorphous corneal dystrophy 1		ISO	RGD:1313832	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR	PMID:11978762|PMID:22171159|PMID:24033266|PMID:26879370|PMID:28492532
1305667	Vsx1	visual system homeobox 1	gene	DOID:0110855	posterior polymorphous corneal dystrophy 1		ISO	RGD:1313832	D	RGD:8657036|PMID:16384943	20140528	RGD		DNA:missense mutation:cds:p.H244R (human)	
1305667	Vsx1	visual system homeobox 1	gene	DOID:10126	keratoconus		ISO	RGD:1313832	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11978762|PMID:15623752
1305667	Vsx1	visual system homeobox 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305667	Vsx1	visual system homeobox 1	gene	DOID:1909	melanoma		ISO	RGD:1313832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305667	Vsx1	visual system homeobox 1	gene	DOID:2566	corneal dystrophy		ISO	RGD:1313832	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11978762
1305667	Vsx1	visual system homeobox 1	gene	DOID:2566	corneal dystrophy		ISO	RGD:1313832	D	RGD:1599773|PMID:11978762	20070214	RGD		KTCN1, OMIM:148300, PPCD1, OMIM:122000	
1305667	Vsx1	visual system homeobox 1	gene	DOID:2566	corneal dystrophy		ISO	RGD:1313832	D	RGD:8657029|PMID:15051220	20140528	RGD		associated with Craniofacial Abnormalities;DNA:missense mutations:cds:p.A256S, p.R131S (human)	
1305667	Vsx1	visual system homeobox 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1313832	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	
1305667	Vsx1	visual system homeobox 1	gene	DOID:3275	thymoma		ISO	RGD:1313832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305667	Vsx1	visual system homeobox 1	gene	DOID:3642	empty sella syndrome		ISO	RGD:1313832	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15051220
1305667	Vsx1	visual system homeobox 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305667	Vsx1	visual system homeobox 1	gene	DOID:5679	retinal disease		ISO	RGD:1313832	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15051220
1305667	Vsx1	visual system homeobox 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305667	Vsx1	visual system homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1313832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305667	Vsx1	visual system homeobox 1	gene	DOID:9000682	Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome		ISO	RGD:1313832	D	RGD:7240710	20140911	OMIM			
1305667	Vsx1	visual system homeobox 1	gene	DOID:9000682	Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome		ISO	RGD:1313832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome	PMID:11978762|PMID:15051220|PMID:16303937|PMID:21976959|PMID:25741868|PMID:28492532|PMID:30535423
1305667	Vsx1	visual system homeobox 1	gene	DOID:9002886	Auditory Perceptual Disorders		ISO	RGD:1313832	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15051220
1305667	Vsx1	visual system homeobox 1	gene	DOID:9003318	Keratoconus 1		ISO	RGD:1313832	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305667	Vsx1	visual system homeobox 1	gene	DOID:9003318	Keratoconus 1		ISO	RGD:1313832	D	RGD:7240710	20130425	OMIM			
1305667	Vsx1	visual system homeobox 1	gene	DOID:9003318	Keratoconus 1		ISO	RGD:1313832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition	PMID:11978762|PMID:15623752|PMID:16303937|PMID:16384943|PMID:21976959|PMID:22171159|PMID:23592923|PMID:24033266|PMID:25741868|PMID:28492532
1305667	Vsx1	visual system homeobox 1	gene	DOID:9003318	Keratoconus 1		ISO	RGD:1313832	D	RGD:8657032|PMID:18626569	20140528	RGD		DNA:missense mutations, snp:exon, intron:p.G160V, p.N151S, IVS1-11T>A (human)	
1305667	Vsx1	visual system homeobox 1	gene	DOID:9003318	Keratoconus 1		ISO	RGD:1313832	D	RGD:8657034|PMID:15623752	20140528	RGD		DNA:missense mutations:cds:multiple (human)	
1305667	Vsx1	visual system homeobox 1	gene	DOID:9003318	Keratoconus 1		ISO	RGD:1313832	D	RGD:8657037|PMID:21976959	20140528	RGD		DNA:missense mutation:cds:p.G239R (human)	
1305667	Vsx1	visual system homeobox 1	gene	DOID:9003318	Keratoconus 1	no_association	ISO	RGD:1313832	D	RGD:8657045|PMID:17960127	20140528	RGD		DNA:missense mutation:cds:p.D144E (human)	
1305667	Vsx1	visual system homeobox 1	gene	DOID:9003318	Keratoconus 1	no_association	ISO	RGD:1313832	D	RGD:8657052|PMID:18216574	20140528	RGD		DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)	
1305667	Vsx1	visual system homeobox 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1313832	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15051220
1305667	Vsx1	visual system homeobox 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1313832	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15051220
1305668	Paip1	poly(A) binding protein interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305668	Paip1	poly(A) binding protein interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305668	Paip1	poly(A) binding protein interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
1305668	Paip1	poly(A) binding protein interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305668	Paip1	poly(A) binding protein interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305668	Paip1	poly(A) binding protein interacting protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305668	Paip1	poly(A) binding protein interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305668	Paip1	poly(A) binding protein interacting protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305668	Paip1	poly(A) binding protein interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305668	Paip1	poly(A) binding protein interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305668	Paip1	poly(A) binding protein interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305668	Paip1	poly(A) binding protein interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305670	Lmo4	LIM domain only 4	gene	DOID:0060668	anencephaly		ISS	RGD:1313838	D	RGD:13592920	20180518	MouseDO		OMIM:206500	
1305670	Lmo4	LIM domain only 4	gene	DOID:10534	stomach cancer		ISO	RGD:1313837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305670	Lmo4	LIM domain only 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305670	Lmo4	LIM domain only 4	gene	DOID:1115	sarcoma		ISO	RGD:1313837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305670	Lmo4	LIM domain only 4	gene	DOID:4362	cervical cancer		ISO	RGD:1313837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305670	Lmo4	LIM domain only 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305670	Lmo4	LIM domain only 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1313837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305670	Lmo4	LIM domain only 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305670	Lmo4	LIM domain only 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305670	Lmo4	LIM domain only 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1313837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1605978	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:0061049	autosomal dominant intellectual developmental disorder type FRA12A		ISO	RGD:1605978	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:0061049	autosomal dominant intellectual developmental disorder type FRA12A		ISO	RGD:1605978	D	RGD:7240710	20130731	OMIM			
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:0061049	autosomal dominant intellectual developmental disorder type FRA12A		ISO	RGD:1605978	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: DIP2B-related condition | ClinVar Annotator: match by term: Intellectual disability, FRA12A type	PMID:17236128|PMID:25741868|PMID:28492532
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:0070309	absence epilepsy		ISO	RGD:1605978	D	RGD:8554872	20240716	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:10534	stomach cancer		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:1059	intellectual disability		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:1115	sarcoma		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:12849	autistic disorder		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:1324	lung cancer		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:1826	epilepsy		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:1909	melanoma		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:3070	high grade glioma		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:3275	thymoma		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:4362	cervical cancer		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1605978	D	RGD:11554173	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305671	Dip2b	Dip2 acetate--CoA ligase B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305672	Spock3	SPARC/osteonectin, cwcv and kazal like domains proteoglycan 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305672	Spock3	SPARC/osteonectin, cwcv and kazal like domains proteoglycan 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1313840	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305672	Spock3	SPARC/osteonectin, cwcv and kazal like domains proteoglycan 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305672	Spock3	SPARC/osteonectin, cwcv and kazal like domains proteoglycan 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305672	Spock3	SPARC/osteonectin, cwcv and kazal like domains proteoglycan 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305674	Adgrg3	adhesion G protein-coupled receptor G3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305674	Adgrg3	adhesion G protein-coupled receptor G3	gene	DOID:3275	thymoma		ISO	RGD:1313843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305674	Adgrg3	adhesion G protein-coupled receptor G3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305674	Adgrg3	adhesion G protein-coupled receptor G3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305675	Mpp7	MAGUK p55 scaffold protein 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305675	Mpp7	MAGUK p55 scaffold protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305675	Mpp7	MAGUK p55 scaffold protein 7	gene	DOID:10534	stomach cancer		ISO	RGD:1344792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305675	Mpp7	MAGUK p55 scaffold protein 7	gene	DOID:1324	lung cancer		ISO	RGD:1344792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305675	Mpp7	MAGUK p55 scaffold protein 7	gene	DOID:1909	melanoma		ISO	RGD:1344792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305675	Mpp7	MAGUK p55 scaffold protein 7	gene	DOID:303	substance-related disorder		ISO	RGD:1344792	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1305675	Mpp7	MAGUK p55 scaffold protein 7	gene	DOID:3275	thymoma		ISO	RGD:1344792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305675	Mpp7	MAGUK p55 scaffold protein 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305675	Mpp7	MAGUK p55 scaffold protein 7	gene	DOID:4362	cervical cancer		ISO	RGD:1344792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305675	Mpp7	MAGUK p55 scaffold protein 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1344792	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305675	Mpp7	MAGUK p55 scaffold protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305675	Mpp7	MAGUK p55 scaffold protein 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305675	Mpp7	MAGUK p55 scaffold protein 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:0111437	optic atrophy 7		ISO	RGD:1604272	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:0111437	optic atrophy 7		ISO	RGD:1604272	D	RGD:7240710	20130221	OMIM			
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:0111437	optic atrophy 7		ISO	RGD:1604272	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: TMEM126A-related condition	PMID:19327736|PMID:20405026|PMID:22815638|PMID:25741868|PMID:28492532|PMID:30369941
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:0111437	optic atrophy 7		ISO	RGD:1604272	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: TMEM126A-related condition	PMID:19327736|PMID:25741868|PMID:28492532|PMID:30369941
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:1909	melanoma		ISO	RGD:1604272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:4362	cervical cancer		ISO	RGD:1604272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:5723	optic atrophy		ISO	RGD:1604272	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1305677	Tmem126a	transmembrane protein 126A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1305678	Cadm2	cell adhesion molecule 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313847	D	RGD:15092074|PMID:21996756	20200103	RGD			
1305678	Cadm2	cell adhesion molecule 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305678	Cadm2	cell adhesion molecule 2	gene	DOID:1115	sarcoma		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305678	Cadm2	cell adhesion molecule 2	gene	DOID:3069	malignant astrocytoma	severity	ISO	RGD:1313847	D	RGD:19165125|PMID:30816549	20200131	RGD		protein:decreased expression:brain	
1305678	Cadm2	cell adhesion molecule 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305678	Cadm2	cell adhesion molecule 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1313847	D	RGD:15092075|PMID:24240726	20200103	RGD		mRNA, protein:decreased expression:liver	
1305678	Cadm2	cell adhesion molecule 2	gene	DOID:768	retinoblastoma		ISO	RGD:1313847	D	RGD:15092072|PMID:30320366	20200102	RGD		mRNA, protein:decreased expression:retina	
1305678	Cadm2	cell adhesion molecule 2	gene	DOID:8893	psoriasis		ISO	RGD:1313847	D	RGD:15092073|PMID:21864505	20200103	RGD			
1305678	Cadm2	cell adhesion molecule 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305678	Cadm2	cell adhesion molecule 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305678	Cadm2	cell adhesion molecule 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1313847	D	RGD:15092076|PMID:28401323	20200103	RGD		DNA:SNP: :rs13078807 (human)	
1305678	Cadm2	cell adhesion molecule 2	gene	DOID:9970	obesity		ISO	RGD:1313847	D	RGD:15092077|PMID:31341224	20200103	RGD		DNA:SNP: :rs13078807 (human)	
1305679	Adtrp	androgen-dependent TFPI-regulating protein	gene	DOID:10534	stomach cancer		ISO	RGD:1313849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305679	Adtrp	androgen-dependent TFPI-regulating protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305679	Adtrp	androgen-dependent TFPI-regulating protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305679	Adtrp	androgen-dependent TFPI-regulating protein	gene	DOID:3275	thymoma		ISO	RGD:1313849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305679	Adtrp	androgen-dependent TFPI-regulating protein	gene	DOID:3393	coronary artery disease		ISO	RGD:1313849	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378986
1305679	Adtrp	androgen-dependent TFPI-regulating protein	gene	DOID:4362	cervical cancer		ISO	RGD:1313849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305679	Adtrp	androgen-dependent TFPI-regulating protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305679	Adtrp	androgen-dependent TFPI-regulating protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1313849	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305679	Adtrp	androgen-dependent TFPI-regulating protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313851	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:10283	prostate cancer		ISO	RGD:1313851	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:10283	prostate cancer		ISO	RGD:1313851	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313851	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305680	Bicral	BICRA like chromatin remodeling complex associated protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313857	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:1059	intellectual disability		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:10754	otitis media		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:1240	leukemia		ISO	RGD:1313857	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: therapeutic	PMID:28436985
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:12849	autistic disorder		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:1826	epilepsy		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:1909	melanoma		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:480	movement disease		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1313857	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:543	dystonia		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:630	genetic disease		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:674	cleft palate		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:9001722	Dysarthria		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: SYNCRIP-related condition | ClinVar Annotator: match by term: SYNCRIP-related neurodevelopmental disorder	PMID:25741868|PMID:33874999|PMID:34157790
1305683	Syncrip	synaptotagmin binding, cytoplasmic RNA interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305684	Pcmtd2	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305684	Pcmtd2	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305684	Pcmtd2	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305684	Pcmtd2	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305685	Naa25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305685	Naa25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305685	Naa25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305685	Naa25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:1115	sarcoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305685	Naa25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:1324	lung cancer		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305685	Naa25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:1909	melanoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305685	Naa25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305685	Naa25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:3275	thymoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305685	Naa25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305685	Naa25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305685	Naa25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305685	Naa25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305685	Naa25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305685	Naa25	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305688	Rhpn1	rhophilin, Rho GTPase binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305688	Rhpn1	rhophilin, Rho GTPase binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305688	Rhpn1	rhophilin, Rho GTPase binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305688	Rhpn1	rhophilin, Rho GTPase binding protein 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1313863	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1305688	Rhpn1	rhophilin, Rho GTPase binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305688	Rhpn1	rhophilin, Rho GTPase binding protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305688	Rhpn1	rhophilin, Rho GTPase binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305688	Rhpn1	rhophilin, Rho GTPase binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313863	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305688	Rhpn1	rhophilin, Rho GTPase binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305688	Rhpn1	rhophilin, Rho GTPase binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305688	Rhpn1	rhophilin, Rho GTPase binding protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305688	Rhpn1	rhophilin, Rho GTPase binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305689	Tmem254	transmembrane protein 254	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305689	Tmem254	transmembrane protein 254	gene	DOID:10534	stomach cancer		ISO	RGD:1313865	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305689	Tmem254	transmembrane protein 254	gene	DOID:1324	lung cancer		ISO	RGD:1313865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305689	Tmem254	transmembrane protein 254	gene	DOID:1909	melanoma		ISO	RGD:1313865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305689	Tmem254	transmembrane protein 254	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305689	Tmem254	transmembrane protein 254	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305692	Sarnp	SAP domain containing ribonucleoprotein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305692	Sarnp	SAP domain containing ribonucleoprotein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305692	Sarnp	SAP domain containing ribonucleoprotein	gene	DOID:1115	sarcoma		ISO	RGD:1603945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305692	Sarnp	SAP domain containing ribonucleoprotein	gene	DOID:3275	thymoma		ISO	RGD:1603945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305692	Sarnp	SAP domain containing ribonucleoprotein	gene	DOID:423	myopathy		ISO	RGD:1603945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
1305692	Sarnp	SAP domain containing ribonucleoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305692	Sarnp	SAP domain containing ribonucleoprotein	gene	DOID:6039	uveal melanoma		ISO	RGD:1603945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305692	Sarnp	SAP domain containing ribonucleoprotein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305692	Sarnp	SAP domain containing ribonucleoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305692	Sarnp	SAP domain containing ribonucleoprotein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305694	Mrpl54	mitochondrial ribosomal protein L54	gene	DOID:4362	cervical cancer		ISO	RGD:1313872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305694	Mrpl54	mitochondrial ribosomal protein L54	gene	DOID:5041	esophageal cancer		ISO	RGD:1313872	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305695	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305695	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305695	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:1115	sarcoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305695	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:1324	lung cancer		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305695	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:1909	melanoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305695	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305695	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:4362	cervical cancer		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305695	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305695	Lsm14a	LSM14A mRNA processing body assembly factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305697	Hepacam2	HEPACAM family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305697	Hepacam2	HEPACAM family member 2	gene	DOID:10283	prostate cancer		ISO	RGD:1602173	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305697	Hepacam2	HEPACAM family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305697	Hepacam2	HEPACAM family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305697	Hepacam2	HEPACAM family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602173	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305697	Hepacam2	HEPACAM family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305697	Hepacam2	HEPACAM family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:0061025	familial restrictive cardiomyopathy 6		ISO	RGD:1313879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6	
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:10534	stomach cancer		ISO	RGD:1313879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:1115	sarcoma		ISO	RGD:1313879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1313879	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	PMID:25741868
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:1909	melanoma		ISO	RGD:1313879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:2394	ovarian cancer		ISO	RGD:1313879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:3070	high grade glioma		ISO	RGD:1313879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:3275	thymoma		ISO	RGD:1313879	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:4362	cervical cancer		ISO	RGD:1313879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305698	Taf1a	TATA-box binding protein associated factor, RNA polymerase I subunit A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305699	P3h3	prolyl 3-hydroxylase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305699	P3h3	prolyl 3-hydroxylase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305699	P3h3	prolyl 3-hydroxylase 3	gene	DOID:1115	sarcoma		ISO	RGD:1313881	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305699	P3h3	prolyl 3-hydroxylase 3	gene	DOID:3275	thymoma		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305699	P3h3	prolyl 3-hydroxylase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305699	P3h3	prolyl 3-hydroxylase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305699	P3h3	prolyl 3-hydroxylase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305699	P3h3	prolyl 3-hydroxylase 3	gene	DOID:8398	osteoarthritis		ISO	RGD:1313881	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1305699	P3h3	prolyl 3-hydroxylase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305699	P3h3	prolyl 3-hydroxylase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305700	Catsper3	cation channel, sperm associated 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305700	Catsper3	cation channel, sperm associated 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305700	Catsper3	cation channel, sperm associated 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305702	Tbx5	T-box transcription factor 5	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1313887	D	RGD:8554872	20170207	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:25741868
1305702	Tbx5	T-box transcription factor 5	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1313887	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1305702	Tbx5	T-box transcription factor 5	gene	DOID:0060468	Holt-Oram syndrome		ISO	RGD:1313887	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15735645
1305702	Tbx5	T-box transcription factor 5	gene	DOID:0060468	Holt-Oram syndrome		ISO	RGD:1313887	D	RGD:7240710	20130221	OMIM			
1305702	Tbx5	T-box transcription factor 5	gene	DOID:0060468	Holt-Oram syndrome		ISO	RGD:1313887	D	RGD:7327217|PMID:20519243	20130917	RGD		DNA:missense mutations, deletion:cds:multiple	
1305702	Tbx5	T-box transcription factor 5	gene	DOID:0060468	Holt-Oram syndrome		ISO	RGD:1313887	D	RGD:7327219|PMID:18451335	20130917	RGD		DNA:missense mutation:cds:p.G125R (human)	
1305702	Tbx5	T-box transcription factor 5	gene	DOID:0060468	Holt-Oram syndrome		ISO	RGD:1313887	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HOLT-ORAM SYNDROME | ClinVar Annotator: match by term: Heart-hand syndrome, type 1 | ClinVar Annotator: match by term: Holt-Oram Syndrome | ClinVar Annotator: match by term: Holt-Oram syndrome | ClinVar Annotator: match by term: TBX5-related condition	PMID:10077612|PMID:10077762|PMID:11183182|PMID:11431700|PMID:11555635|PMID:12499378|PMID:12624158|PMID:12789647|PMID:15710732|PMID:16183809|PMID:16199547|PMID:16380715|PMID:16917909|PMID:17534187|PMID:17576681|PMID:18451335|PMID:18706711|PMID:19648116|PMID:20450920|PMID:20519243|PMID:21637475|PMID:21897873|PMID:24033266|PMID:24664498|PMID:25216260|PMID:25260786|PMID:25263169|PMID:25623069|PMID:25680289|PMID:25741868|PMID:25931334|PMID:25963046|PMID:26219450|PMID:26401820|PMID:26490186|PMID:26859351|PMID:26938784|PMID:27652283|PMID:28492532|PMID:29451098|PMID:29755943|PMID:30143665|PMID:30538526|PMID:30552424|PMID:31116477|PMID:31215120|PMID:31502745|PMID:32236096|PMID:34426522|PMID:34917776|PMID:38336121|PMID:8988164|PMID:8988165|PMID:9536098
1305702	Tbx5	T-box transcription factor 5	gene	DOID:0060468	Holt-Oram syndrome		ISO	RGD:1313888	D	RGD:1578428|PMID:11572777	20130917	RGD			
1305702	Tbx5	T-box transcription factor 5	gene	DOID:0060468	Holt-Oram syndrome		ISS	RGD:1313888	D	RGD:13592920	20230718	MouseDO		OMIM:142900	
1305702	Tbx5	T-box transcription factor 5	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1313887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164
1305702	Tbx5	T-box transcription factor 5	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:1313887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aortic valve disease 2	PMID:10077612|PMID:11183182|PMID:12499378|PMID:12789647|PMID:15096952|PMID:15355425|PMID:15710732|PMID:16183809|PMID:16199547|PMID:16917909|PMID:17534187|PMID:17576681|PMID:18451335|PMID:18706711|PMID:19648116|PMID:20519243|PMID:21637475|PMID:22382802|PMID:23713051|PMID:24664498|PMID:25260786|PMID:25263169|PMID:25500235|PMID:25623069|PMID:25640679|PMID:25680289|PMID:25691538|PMID:25741868|PMID:26219450|PMID:26401820|PMID:26749485|PMID:26859351|PMID:26938784|PMID:27722056|PMID:27788187|PMID:28492532|PMID:29755943|PMID:30538526|PMID:30552424|PMID:30821013|PMID:31983221|PMID:8988164|PMID:9536098
1305702	Tbx5	T-box transcription factor 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1313887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy	PMID:16183809|PMID:16917909|PMID:25741868|PMID:28492532
1305702	Tbx5	T-box transcription factor 5	gene	DOID:13620	patent foramen ovale		ISO	RGD:1313887	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:25741868|PMID:29555671
1305702	Tbx5	T-box transcription factor 5	gene	DOID:1657	ventricular septal defect		ISO	RGD:1313887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164
1305702	Tbx5	T-box transcription factor 5	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1313887	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1305702	Tbx5	T-box transcription factor 5	gene	DOID:1909	melanoma		ISO	RGD:1313887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305702	Tbx5	T-box transcription factor 5	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1313887	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532|PMID:32233023|PMID:33576403
1305702	Tbx5	T-box transcription factor 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305702	Tbx5	T-box transcription factor 5	gene	DOID:5844	myocardial infarction	treatment	IMP		D	RGD:7327215|PMID:23948075	20130917	RGD			
1305702	Tbx5	T-box transcription factor 5	gene	DOID:8466	retinal degeneration		IEP		D	RGD:152025547|PMID:29713904	20230525	RGD		associated with hyperaldosterone; mRNA:increased expression:retina (rat)	
1305702	Tbx5	T-box transcription factor 5	gene	DOID:9003591	Telecanthus		ISO	RGD:1313887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164
1305702	Tbx5	T-box transcription factor 5	gene	DOID:9004745	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES		IEP		D	RGD:152025547|PMID:29713904	20230525	RGD		associated with hyperaldosterone; mRNA:increased expression:retina (rat)	
1305702	Tbx5	T-box transcription factor 5	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1313887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164
1305702	Tbx5	T-box transcription factor 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305703	Tmem38b	transmembrane protein 38B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305703	Tmem38b	transmembrane protein 38B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305703	Tmem38b	transmembrane protein 38B	gene	DOID:0110343	osteogenesis imperfecta type 14		ISO	RGD:1347417	D	RGD:7240710	20171011	OMIM			
1305703	Tmem38b	transmembrane protein 38B	gene	DOID:0110343	osteogenesis imperfecta type 14		ISO	RGD:1347417	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta type 14 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiv | ClinVar Annotator: match by term: TMEM38B-related condition	PMID:17611541|PMID:23054245|PMID:25741868|PMID:26911354|PMID:28492532
1305703	Tmem38b	transmembrane protein 38B	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1347417	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:24835313|PMID:25741868|PMID:27441836|PMID:28492532|PMID:32123938
1305703	Tmem38b	transmembrane protein 38B	gene	DOID:3275	thymoma		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305703	Tmem38b	transmembrane protein 38B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305703	Tmem38b	transmembrane protein 38B	gene	DOID:4362	cervical cancer		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305703	Tmem38b	transmembrane protein 38B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305703	Tmem38b	transmembrane protein 38B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305703	Tmem38b	transmembrane protein 38B	gene	DOID:630	genetic disease		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305703	Tmem38b	transmembrane protein 38B	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1347417	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1305703	Tmem38b	transmembrane protein 38B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:0050562	West syndrome		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:1313892	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:0061022	combined pituitary hormone deficiency 6		ISO	RGD:1313892	D	RGD:7240710	20150624	OMIM			
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:0061022	combined pituitary hormone deficiency 6		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 6	PMID:18728160|PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:1313892	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:1313892	D	RGD:7240710	20150624	OMIM			
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:1313892	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 5 | ClinVar Annotator: match by term: Syndromic microphthalmia type 5	PMID:15846561|PMID:16607563|PMID:18781617|PMID:19965921|PMID:20486942|PMID:22577225|PMID:22715480|PMID:24033328|PMID:24167467|PMID:24498598|PMID:25741868|PMID:27299576|PMID:28492532|PMID:28518168|PMID:31200363|PMID:32461654|PMID:32796691|PMID:33296094|PMID:3442652|PMID:36368868|PMID:38614076
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1313892	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:1059	intellectual disability		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:10629	microphthalmia		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmia	PMID:15846561|PMID:16607563|PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:10907	microcephaly		ISO	RGD:1313892	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19965921|PMID:25741868|PMID:28492532
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:12849	autistic disorder		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:14447	gonadal dysgenesis		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gonadal dysgenesis	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1313892	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:540	strabismus		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:5723	optic atrophy		ISO	RGD:1313892	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15846561|PMID:16607563|PMID:20486942|PMID:22577225|PMID:24167467|PMID:28492532
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:9000066	Jaw Abnormalities		ISO	RGD:1313892	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12183386
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:9002049	Anophthalmia		ISO	RGD:1313892	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Anophthalmia	PMID:25741868|PMID:29178648
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1313892	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20573704
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:9410	combined pituitary hormone deficiency		ISO	RGD:1313892	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1305705	Otx2	orthodenticle homeobox 2	gene	DOID:9970	obesity		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313896	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:11836	clubfoot		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:35979925
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:35979925
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:35979925
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal tonic seizure	PMID:25741868
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:4890	juvenile myoclonic epilepsy		ISO	RGD:1313896	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Juvenile myoclonic epilepsy	PMID:25741868|PMID:35979925
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313896	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:35979925
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:9004553	NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE		ISO	RGD:1313896	D	RGD:7240710	20240306	OMIM			
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:9004553	NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline	PMID:25741868
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:9007586	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER		ISO	RGD:1313896	D	RGD:7240710	20240529	OMIM			
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:9007586	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER | ClinVar Annotator: match by term: Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	PMID:25741868|PMID:35979925|PMID:36136249
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:35979925
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305707	Caprin1	cell cycle associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305711	Foxn3	forkhead box N3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313904	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305711	Foxn3	forkhead box N3	gene	DOID:4362	cervical cancer		ISO	RGD:1313904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305711	Foxn3	forkhead box N3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305711	Foxn3	forkhead box N3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305711	Foxn3	forkhead box N3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305712	Etf1	eukaryotic translation termination factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305712	Etf1	eukaryotic translation termination factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305712	Etf1	eukaryotic translation termination factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313906	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305712	Etf1	eukaryotic translation termination factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305712	Etf1	eukaryotic translation termination factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1313906	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305712	Etf1	eukaryotic translation termination factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1313906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305712	Etf1	eukaryotic translation termination factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313906	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305712	Etf1	eukaryotic translation termination factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305712	Etf1	eukaryotic translation termination factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313906	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305712	Etf1	eukaryotic translation termination factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305712	Etf1	eukaryotic translation termination factor 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305712	Etf1	eukaryotic translation termination factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305712	Etf1	eukaryotic translation termination factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305713	C1h15orf40	similar to human chromosome 15 open reading frame 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305713	C1h15orf40	similar to human chromosome 15 open reading frame 40	gene	DOID:10534	stomach cancer		ISO	RGD:1604247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305713	C1h15orf40	similar to human chromosome 15 open reading frame 40	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305713	C1h15orf40	similar to human chromosome 15 open reading frame 40	gene	DOID:1324	lung cancer		ISO	RGD:1604247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305713	C1h15orf40	similar to human chromosome 15 open reading frame 40	gene	DOID:4362	cervical cancer		ISO	RGD:1604247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305713	C1h15orf40	similar to human chromosome 15 open reading frame 40	gene	DOID:5041	esophageal cancer		ISO	RGD:1604247	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305713	C1h15orf40	similar to human chromosome 15 open reading frame 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305713	C1h15orf40	similar to human chromosome 15 open reading frame 40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305714	Tspan14	tetraspanin 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305714	Tspan14	tetraspanin 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305714	Tspan14	tetraspanin 14	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1342494	D	RGD:11554173	20210413	CTD		CTD Direct Evidence: marker/mechanism	PMID:33589840
1305714	Tspan14	tetraspanin 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305714	Tspan14	tetraspanin 14	gene	DOID:3275	thymoma		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305714	Tspan14	tetraspanin 14	gene	DOID:4362	cervical cancer		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305714	Tspan14	tetraspanin 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305714	Tspan14	tetraspanin 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305714	Tspan14	tetraspanin 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305714	Tspan14	tetraspanin 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305714	Tspan14	tetraspanin 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305715	Zswim1	zinc finger, SWIM-type containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305715	Zswim1	zinc finger, SWIM-type containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305715	Zswim1	zinc finger, SWIM-type containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305716	Hat1	histone acetyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305716	Hat1	histone acetyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305716	Hat1	histone acetyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305716	Hat1	histone acetyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305716	Hat1	histone acetyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305716	Hat1	histone acetyltransferase 1	gene	DOID:9001586	Experimental Liver Neoplasms		IEP		D	RGD:2316578|PMID:17182829	20100217	RGD		protein:increased expression:liver	
1305716	Hat1	histone acetyltransferase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305716	Hat1	histone acetyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305716	Hat1	histone acetyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305718	Plekho2	pleckstrin homology domain containing O2	gene	DOID:13001	carotid stenosis		ISO	RGD:1601963	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Internal carotid artery stenosis	PMID:25741868
1305718	Plekho2	pleckstrin homology domain containing O2	gene	DOID:3275	thymoma		ISO	RGD:1601963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305718	Plekho2	pleckstrin homology domain containing O2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305718	Plekho2	pleckstrin homology domain containing O2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305718	Plekho2	pleckstrin homology domain containing O2	gene	DOID:9256	colorectal cancer		ISO	RGD:126736038	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:28492532
1305719	Nat8l	N-acetyltransferase 8-like	gene	DOID:10534	stomach cancer		ISO	RGD:1602409	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305719	Nat8l	N-acetyltransferase 8-like	gene	DOID:10907	microcephaly		ISO	RGD:1602409	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1305719	Nat8l	N-acetyltransferase 8-like	gene	DOID:9004612	N-Acetylaspartate Deficiency		ISO	RGD:1602409	D	RGD:7240710	20140911	OMIM			
1305719	Nat8l	N-acetyltransferase 8-like	gene	DOID:9004612	N-Acetylaspartate Deficiency		ISO	RGD:1602409	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: N-acetylaspartate deficiency	
1305721	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305721	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:1115	sarcoma		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305721	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:1324	lung cancer		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305721	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:3275	thymoma		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305721	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305721	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305721	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305721	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313918	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305721	L3hypdh	trans-L-3-hydroxyproline dehydratase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:0060321	umbilical hernia		ISO	RGD:1313923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:23993193|PMID:23993194|PMID:25741868|PMID:25868664|PMID:28492532|PMID:28940506|PMID:34056100
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:0070329	mitochondrial DNA depletion syndrome		ISO	RGD:1313923	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome	PMID:23993193|PMID:23993194|PMID:24033266|PMID:25741868|PMID:25868664|PMID:27099744|PMID:27290639|PMID:28492532|PMID:30369941|PMID:30771478|PMID:30804983
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:0080131	mitochondrial DNA depletion syndrome 13		ISO	RGD:1313923	D	RGD:7240710	20140911	OMIM			
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:0080131	mitochondrial DNA depletion syndrome 13		ISO	RGD:1313923	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FBXL4-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	PMID:16199547|PMID:23993193|PMID:23993194|PMID:24033266|PMID:25741868|PMID:25868664|PMID:27099744|PMID:27182039|PMID:27182309|PMID:27290639|PMID:27743463|PMID:27848944|PMID:27858371|PMID:28327206|PMID:28492532|PMID:28940506|PMID:30369941|PMID:30771478|PMID:30804983|PMID:31102535|PMID:31130284|PMID:32348839|PMID:32445240|PMID:33486010|PMID:34052969|PMID:34056100|PMID:34602956|PMID:34732400|PMID:36896912|PMID:38465286|PMID:38703036|PMID:39472908
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:0080855	Parkinsonism		ISO	RGD:1313923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonism	
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:10907	microcephaly		ISO	RGD:1313923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1313923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:13620	patent foramen ovale		ISO	RGD:1313923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:23993193|PMID:23993194|PMID:25868664|PMID:28492532|PMID:29565416
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:1826	epilepsy		ISO	RGD:1313923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27182039|PMID:27182309
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1313923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:3650	lactic acidosis		ISO	RGD:1313923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868|PMID:27182039|PMID:27182309
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:3652	Leigh disease		ISO	RGD:1313923	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease	PMID:23993193|PMID:23993194|PMID:24033266|PMID:25741868|PMID:25868664|PMID:27099744|PMID:27290639|PMID:27743463|PMID:28492532|PMID:30369941|PMID:30771478|PMID:30804983
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1313923	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:630	genetic disease		ISO	RGD:1313923	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23993193|PMID:23993194|PMID:24033266|PMID:25741868|PMID:25868664|PMID:27099744|PMID:27290639|PMID:28492532|PMID:30369941|PMID:30771478|PMID:30804983
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:1313923	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial encephalomyopathy	PMID:23993194|PMID:25558065|PMID:25741868|PMID:25868664|PMID:27743463|PMID:28492532|PMID:28940506|PMID:30804983|PMID:34052969|PMID:34056100
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:9004872	Congenital Infantile Lactic Acidosis		ISO	RGD:1313923	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital lactic acidosis	PMID:23993193|PMID:23993194|PMID:24033266|PMID:25741868|PMID:25868664|PMID:27099744|PMID:27290639|PMID:28492532|PMID:30369941|PMID:30771478|PMID:30804983
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27182039|PMID:27182309
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313923	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23993193|PMID:23993194|PMID:24033266|PMID:25741868|PMID:25868664|PMID:27099744|PMID:27182039|PMID:27182309|PMID:27290639|PMID:28492532|PMID:30369941|PMID:30771478|PMID:30804983
1305724	Fbxl4	F-box and leucine-rich repeat protein 4	gene	DOID:936	brain disease		ISO	RGD:1313923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: encephalopathy	PMID:23993193|PMID:23993194|PMID:25741868|PMID:25868664|PMID:28492532
1305725	Vstm2l	V-set and transmembrane domain containing 2 like	gene	DOID:1324	lung cancer		ISO	RGD:1313925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305725	Vstm2l	V-set and transmembrane domain containing 2 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305725	Vstm2l	V-set and transmembrane domain containing 2 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305726	Tubgcp3	tubulin gamma complex component 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305726	Tubgcp3	tubulin gamma complex component 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305726	Tubgcp3	tubulin gamma complex component 3	gene	DOID:1115	sarcoma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305726	Tubgcp3	tubulin gamma complex component 3	gene	DOID:1324	lung cancer		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305726	Tubgcp3	tubulin gamma complex component 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305726	Tubgcp3	tubulin gamma complex component 3	gene	DOID:3070	high grade glioma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305726	Tubgcp3	tubulin gamma complex component 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305726	Tubgcp3	tubulin gamma complex component 3	gene	DOID:4362	cervical cancer		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305726	Tubgcp3	tubulin gamma complex component 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305726	Tubgcp3	tubulin gamma complex component 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305726	Tubgcp3	tubulin gamma complex component 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305726	Tubgcp3	tubulin gamma complex component 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305726	Tubgcp3	tubulin gamma complex component 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305727	Nop16	NOP16 nucleolar protein	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1605076	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1305727	Nop16	NOP16 nucleolar protein	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1605076	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1313930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1313930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313930	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1313930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305728	Mknk2	MAPK interacting serine/threonine kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:0060903	thrombosis		ISO	RGD:1313933	D	RGD:6483062|PMID:21119114	20120511	RGD		associated with Antiphospholipid Syndrome	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:10534	stomach cancer		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1313932	D	RGD:6483064|PMID:12399018	20120511	RGD		DNA:polymorphism:exon:2622T>C (human)	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:1313932	D	RGD:6483065|PMID:20208369	20120511	RGD		DNA:polymorphisms: :multiple	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:1115	sarcoma		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:1307	dementia		ISO	RGD:1313932	D	RGD:6483063|PMID:17614163	20120511	RGD		DNA:mutation: :p.R952Q (human)	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:1313932	D	RGD:2306125|PMID:18592168	20090320	RGD		DNA:missense mutation:cds:p.R952Q (human)	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:3393	coronary artery disease	onset	ISO	RGD:1313932	D	RGD:2306124|PMID:17847002	20090320	RGD		DNA:missense mutation:cds:p.R952Q (human)	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:4362	cervical cancer		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1313932	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:5419	schizophrenia		ISO	RGD:1313932	D	RGD:6483059|PMID:22419519	20120511	RGD		DNA:SNP, missense mutation:exon, cds: (rs2297660, rs3737983) (human)	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:5844	myocardial infarction		ISO	RGD:1313932	D	RGD:11554173	20190514	CTD		CTD Direct Evidence: marker/mechanism	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:5844	myocardial infarction		ISO	RGD:1313932	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LRP8-related condition | ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Myocardial infarction, susceptibility to	PMID:25741868|PMID:28492532
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:1313932	D	RGD:2306125|PMID:18592168	20090320	RGD		DNA:missense mutation:cds:p.R952Q (human)	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:5844	myocardial infarction	onset	ISO	RGD:1313932	D	RGD:2306124|PMID:17847002	20090320	RGD		DNA:missense mutation:cds:p.R952Q (human)	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1313932	D	RGD:7240710	20190502	OMIM			
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1313932	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18172410
1305729	Lrp8	LDL receptor related protein 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305730	Atxn7l1	ataxin 7-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305730	Atxn7l1	ataxin 7-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305730	Atxn7l1	ataxin 7-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1345348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305730	Atxn7l1	ataxin 7-like 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1345348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305730	Atxn7l1	ataxin 7-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305730	Atxn7l1	ataxin 7-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345348	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305730	Atxn7l1	ataxin 7-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305730	Atxn7l1	ataxin 7-like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305730	Atxn7l1	ataxin 7-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305730	Atxn7l1	ataxin 7-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305731	Phf12	PHD finger protein 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305731	Phf12	PHD finger protein 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313935	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305731	Phf12	PHD finger protein 12	gene	DOID:1909	melanoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305731	Phf12	PHD finger protein 12	gene	DOID:3275	thymoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305731	Phf12	PHD finger protein 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305731	Phf12	PHD finger protein 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305731	Phf12	PHD finger protein 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305731	Phf12	PHD finger protein 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305731	Phf12	PHD finger protein 12	gene	DOID:9008582	Developmental Disease		ISO	RGD:1313935	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1305731	Phf12	PHD finger protein 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1605713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605713	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605713	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305732	Gcc2	GRIP and coiled-coil domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305733	Bmerb1	bMERB domain containing 1	gene	DOID:0080600	COVID-19		ISO	RGD:1345550	D	RGD:9068941	20200613	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305733	Bmerb1	bMERB domain containing 1	gene	DOID:9000664	Familial Thoracic Aortic Aneurysm 4		ISO	RGD:26891515|RGD:26893177|RGD:26893562	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus	PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725
1305734	Ilf2	interleukin enhancer binding factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305734	Ilf2	interleukin enhancer binding factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305734	Ilf2	interleukin enhancer binding factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305734	Ilf2	interleukin enhancer binding factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305734	Ilf2	interleukin enhancer binding factor 2	gene	DOID:3275	thymoma		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305734	Ilf2	interleukin enhancer binding factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305734	Ilf2	interleukin enhancer binding factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313940	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305734	Ilf2	interleukin enhancer binding factor 2	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1313940	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1305734	Ilf2	interleukin enhancer binding factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305734	Ilf2	interleukin enhancer binding factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305734	Ilf2	interleukin enhancer binding factor 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313940	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1305734	Ilf2	interleukin enhancer binding factor 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305734	Ilf2	interleukin enhancer binding factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305735	Grhl1	grainyhead-like transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305735	Grhl1	grainyhead-like transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305735	Grhl1	grainyhead-like transcription factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305735	Grhl1	grainyhead-like transcription factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305735	Grhl1	grainyhead-like transcription factor 1	gene	DOID:3275	thymoma		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305735	Grhl1	grainyhead-like transcription factor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305735	Grhl1	grainyhead-like transcription factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305735	Grhl1	grainyhead-like transcription factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313942	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305735	Grhl1	grainyhead-like transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305735	Grhl1	grainyhead-like transcription factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305735	Grhl1	grainyhead-like transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313942	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305735	Grhl1	grainyhead-like transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305739	Adam23	ADAM metallopeptidase domain 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305739	Adam23	ADAM metallopeptidase domain 23	gene	DOID:10534	stomach cancer		ISO	RGD:1313949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305739	Adam23	ADAM metallopeptidase domain 23	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305739	Adam23	ADAM metallopeptidase domain 23	gene	DOID:1909	melanoma		ISO	RGD:1313949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305739	Adam23	ADAM metallopeptidase domain 23	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1313949	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1305739	Adam23	ADAM metallopeptidase domain 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1313949	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305739	Adam23	ADAM metallopeptidase domain 23	gene	DOID:6039	uveal melanoma		ISO	RGD:1313949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305739	Adam23	ADAM metallopeptidase domain 23	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305739	Adam23	ADAM metallopeptidase domain 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305739	Adam23	ADAM metallopeptidase domain 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305739	Adam23	ADAM metallopeptidase domain 23	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305740	Cybrd1	cytochrome b reductase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305740	Cybrd1	cytochrome b reductase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305740	Cybrd1	cytochrome b reductase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1313951	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305740	Cybrd1	cytochrome b reductase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305740	Cybrd1	cytochrome b reductase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305740	Cybrd1	cytochrome b reductase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305741	Yeats4	YEATS domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305741	Yeats4	YEATS domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305741	Yeats4	YEATS domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305741	Yeats4	YEATS domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1353043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305741	Yeats4	YEATS domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1353043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305741	Yeats4	YEATS domain containing 4	gene	DOID:3070	high grade glioma		IEP		D	RGD:1598696|PMID:11521196	20061213	RGD			
1305741	Yeats4	YEATS domain containing 4	gene	DOID:3382	liposarcoma		ISO	RGD:1353043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:20601955
1305741	Yeats4	YEATS domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1353043	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305741	Yeats4	YEATS domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305741	Yeats4	YEATS domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305741	Yeats4	YEATS domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305741	Yeats4	YEATS domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305741	Yeats4	YEATS domain containing 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1353043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:0060058	lymphoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:0070349	spinal muscular atrophy with lower extremity predominant 2A		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gower's muscular dystrophy	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28817800|PMID:31996268|PMID:36112647
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:0081380	amyotrophic lateral sclerosis type 26		ISO	RGD:1313955	D	RGD:7240710	20210113	OMIM			
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:0081380	amyotrophic lateral sclerosis type 26		ISO	RGD:1313955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia | ClinVar Annotator: match by term: amyotrophic lateral sclerosis 26 with or without frontotemporal dementia	PMID:25741868|PMID:28492532|PMID:28817800|PMID:29216908|PMID:29886022|PMID:36112647
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:1909	melanoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:10059581|PMID:16055272	20150819	RGD			
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:3070	high grade glioma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1313955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1313955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28492532
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:630	genetic disease		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1313955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:26467025|PMID:28492532
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:9008982	Welander Distal Myopathy, Swedish Type		ISO	RGD:1313955	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:9008982	Welander Distal Myopathy, Swedish Type		ISO	RGD:1313955	D	RGD:7240710	20130731	OMIM			
1305742	Tia1	TIA1 cytotoxic granule-associated RNA binding protein	gene	DOID:9008982	Welander Distal Myopathy, Swedish Type		ISO	RGD:1313955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Welander distal myopathy	PMID:16199547|PMID:17576681|PMID:23348830|PMID:23401021|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28817800|PMID:29216908|PMID:29886022|PMID:31996268|PMID:36112647|PMID:9536098
1305744	Drc5	dynein regulatory complex subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1604203	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305744	Drc5	dynein regulatory complex subunit 5	gene	DOID:12336	male infertility		ISS	RGD:1313959	D	RGD:13592920	20180518	MouseDO			
1305744	Drc5	dynein regulatory complex subunit 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1604203	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305744	Drc5	dynein regulatory complex subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305744	Drc5	dynein regulatory complex subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305745	Stac	SH3 and cysteine rich domain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305745	Stac	SH3 and cysteine rich domain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305745	Stac	SH3 and cysteine rich domain	gene	DOID:1115	sarcoma		ISO	RGD:1313960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305745	Stac	SH3 and cysteine rich domain	gene	DOID:1909	melanoma		ISO	RGD:1313960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305745	Stac	SH3 and cysteine rich domain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305745	Stac	SH3 and cysteine rich domain	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1313960	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
1305745	Stac	SH3 and cysteine rich domain	gene	DOID:4362	cervical cancer		ISO	RGD:1313960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305745	Stac	SH3 and cysteine rich domain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305745	Stac	SH3 and cysteine rich domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305745	Stac	SH3 and cysteine rich domain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305745	Stac	SH3 and cysteine rich domain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305746	Dpep2	dipeptidase 2	gene	DOID:1115	sarcoma		ISO	RGD:1313962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305746	Dpep2	dipeptidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313962	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305746	Dpep2	dipeptidase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305746	Dpep2	dipeptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		IEP		D	RGD:7207884|PMID:18296740	20130212	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:0080158	herpes simplex virus keratitis	susceptibility	ISO	RGD:1313965	D	RGD:8661706|PMID:17266445	20140612	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:0080162	lupus nephritis		ISO	RGD:1313965	D	RGD:6893449|PMID:20980973	20130212	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:0080745	polymyositis	susceptibility	ISO	RGD:1313964	D	RGD:8661720|PMID:24632671	20140612	RGD		DNA:SNP:intron: (rs7582694) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:0081373	disabling pansclerotic morphea		ISO	RGD:1313964	D	RGD:7240710	20260805	OMIM			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:0081373	disabling pansclerotic morphea		ISO	RGD:1313964	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD	PMID:25741868|PMID:28492532|PMID:37256972
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:10223	dermatomyositis		ISO	RGD:1313964	D	RGD:8661693|PMID:22402141	20140612	RGD		DNA:SNP: :rs7574865 (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:10534	stomach cancer		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:1115	sarcoma		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1313964	D	RGD:11554173	20220816	CTD		CTD Direct Evidence: marker/mechanism	PMID:21399635
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:12236	primary biliary cholangitis	no_association	ISO	RGD:1313964	D	RGD:25671415|PMID:24648611	20200427	RGD		DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:12236	primary biliary cholangitis	susceptibility	ISO	RGD:1313964	D	RGD:25671415|PMID:24648611	20200427	RGD		DNA:SNPs, haplotypes:multiple	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:12236	primary biliary cholangitis	susceptibility	ISO	RGD:1313964	D	RGD:25671416|PMID:28395724	20200427	RGD		DNA:SNP: intron: (rs7574865) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:12236	primary biliary cholangitis	susceptibility	ISO	RGD:1313964	D	RGD:25671421|PMID:26084578	20200427	RGD		associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:12297	Vogt-Koyanagi-Harada disease		ISO	RGD:1313964	D	RGD:8661713|PMID:20438790	20140612	RGD		DNA:SNP: :rs7574865 (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:12361	Graves' disease		ISO	RGD:1313965	D	RGD:7207875|PMID:16195404	20130212	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1313964	D	RGD:11554173	20220816	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097066|PMID:24097067
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:12894	Sjogren's syndrome	no_association	ISO	RGD:1313964	D	RGD:8661709|PMID:20360187	20140612	RGD		DNA:SNP:intron: (rs7574865) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:12894	Sjogren's syndrome	susceptibility	ISO	RGD:1313964	D	RGD:8661690|PMID:20535138	20140612	RGD		DNA:SNP:intron: (rs7582694) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:12894	Sjogren's syndrome	susceptibility	ISO	RGD:1313964	D	RGD:8661708|PMID:18273036	20140612	RGD		DNA:SNP:intron: (rs7574865) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:13241	Behcet's disease		ISO	RGD:1313964	D	RGD:11554173	20220816	CTD		CTD Direct Evidence: marker/mechanism	PMID:23291587
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:13241	Behcet's disease		ISO	RGD:1313964	D	RGD:8661713|PMID:20438790	20140612	RGD		DNA:SNP: :rs7574865 (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:13241	Behcet's disease		ISO	RGD:1313964	D	RGD:8661718|PMID:23001997	20140612	RGD		DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:1577	limited scleroderma	no_association	ISO	RGD:1313964	D	RGD:8661701|PMID:23755762	20140612	RGD		DNA:SNPs:introns: (rs10168266, rs3821236)  (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:1577	limited scleroderma	susceptibility	ISO	RGD:1313964	D	RGD:8661701|PMID:23755762	20190726	RGD		DNA:SNP:intron: (rs7574865) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:1577	limited scleroderma	susceptibility	ISO	RGD:1313964	D	RGD:8661714|PMID:19286670	20140612	RGD		DNA:SNP:intron: (rs7574865) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:1580	diffuse scleroderma	no_association	ISO	RGD:1313964	D	RGD:8661701|PMID:23755762	20140612	RGD		DNA:SNP:intron: (rs3821236) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:1580	diffuse scleroderma	no_association	ISO	RGD:1313964	D	RGD:8661714|PMID:19286670	20140612	RGD		DNA:SNP:intron: (rs7574865) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:1580	diffuse scleroderma	susceptibility	ISO	RGD:1313964	D	RGD:8661701|PMID:23755762	20140612	RGD		DNA:SNP:introns: (rs7574865, rs10168266) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:1884	viral hepatitis	susceptibility	ISO	RGD:1313964	D	RGD:25671417|PMID:24731448	20200427	RGD		protein:increased phosphorylation:liver, inflammatory cell (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:1909	melanoma		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:1996	rectum adenocarcinoma		ISO	RGD:1313964	D	RGD:153323313|PMID:22121102	20220812	RGD		DNA:SNP:intron: (rs3024861) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:2030	anxiety disorder		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:2043	hepatitis B		ISO	RGD:1313964	D	RGD:11554173	20220816	CTD		CTD Direct Evidence: marker/mechanism	PMID:27444301
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:2048	autoimmune hepatitis	susceptibility	ISO	RGD:1313964	D	RGD:25671419|PMID:28977835	20200427	RGD		DNA:SNPs: intron 3, intron: (rs7574865, rs7582694) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:2377	multiple sclerosis		ISO	RGD:1313964	D	RGD:11554173	20220816	CTD		CTD Direct Evidence: marker/mechanism	PMID:24076602
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:2841	asthma		ISO	RGD:1313964	D	RGD:11554173	20220816	CTD		CTD Direct Evidence: marker/mechanism	PMID:28807506
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:2841	asthma	treatment	IEP		D	RGD:2317290|PMID:18211752	20140612	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:2986	IgA glomerulonephritis	disease_progression	ISO	RGD:1313964	D	RGD:7207872|PMID:20045654	20130212	RGD		DNA:SNP: :rs7561832 (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:2986	IgA glomerulonephritis	no_association	ISO	RGD:1313964	D	RGD:7207878|PMID:20479942	20130212	RGD		DNA:SNP:intron:c.274-28828C>G (rs10181656) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:3083	chronic obstructive pulmonary disease		IEP		D	RGD:8661725|PMID:24321062	20140612	RGD		protein:increased expression:lung	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:3312	bipolar disorder		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868|PMID:28492532
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1313964	D	RGD:9068941	20220812	RGD		mRNA:increased expression:stomach (human)	PMID:33042401|REF_RGD_ID:153298934
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:418	systemic scleroderma		ISO	RGD:1313964	D	RGD:11554173	20220816	CTD		CTD Direct Evidence: marker/mechanism	PMID:20383147
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:418	systemic scleroderma	susceptibility	ISO	RGD:1313964	D	RGD:8661700|PMID:19644887	20140612	RGD		DNA:SNP:intron: (rs7574865) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:418	systemic scleroderma	susceptibility	ISO	RGD:1313964	D	RGD:8661711|PMID:19950257	20140612	RGD		DNA:SNP:intron: (rs11889341) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313964	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1313964	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313964	D	RGD:11554173	20220816	CTD		CTD Direct Evidence: marker/mechanism	PMID:23242368
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1313964	D	RGD:9068941	20220812	RGD		Hepatitis B, Chronic; DNA:SNP: intron 3: (rs7574865) (human)	PMID:26745093|REF_RGD_ID:11553302
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1313964	D	RGD:11554173	20220816	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842|PMID:23143596
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:8541	Sezary's disease		ISO	RGD:1313964	D	RGD:8661723|PMID:16403914	20140612	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:869	cholesteatoma		ISO	RGD:1313964	D	RGD:8661722|PMID:24321752	20140612	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:8704	genital herpes	severity	ISO	RGD:1313964	D	RGD:8661697|PMID:22718836	20140612	RGD		DNA:SNPs, haplotype: :multiple	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:8704	genital herpes	treatment	ISO	RGD:1313964	D	RGD:8661697|PMID:22718836	20140612	RGD		DNA:SNP:intron:rs7572482 (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1313964	D	RGD:8661715|PMID:19500629	20140612	RGD		DNA:SNP:intron:IVS3 (rs7574865) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9002174	Disease Susceptibility		ISO	RGD:1313964	D	RGD:11554173	20220816	CTD		CTD Direct Evidence: marker/mechanism	PMID:27444301
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9002514	Neointima	treatment	IDA		D	RGD:5509614|PMID:16118253	20140612	RGD		associated with Carotid Artery Injuries	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IEP		D	RGD:7207888|PMID:11240014	20130212	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9003870	Herpes Simplex Encephalitis	susceptibility	ISO	RGD:1313965	D	RGD:8661706|PMID:17266445	20140612	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1313964	D	RGD:7207871|PMID:21237270	20130212	RGD		DNA:SNP: :rs7574865 (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9004484	Sepsis		ISO	RGD:1313965	D	RGD:7207876|PMID:11257135	20130212	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9004874	Dermal Fibrosis		ISO	RGD:1313965	D	RGD:8661691|PMID:21360510	20140612	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9005005	Oral Ulcer		ISO	RGD:1313964	D	RGD:5147916|PMID:21719445	20140612	RGD		associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1313965	D	RGD:7207889|PMID:10553062	20130212	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9007356	Eczema		ISO	RGD:1313964	D	RGD:6893665|PMID:22192168	20140612	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1313965	D	RGD:25671422|PMID:23876342	20200427	RGD		mRNA:increased expression:liver, macrophage (mouse)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	severity	ISO	RGD:1313965	D	RGD:25671417|PMID:24731448	20200427	RGD		protein:increased phosphorylation:liver, inflammatory cell (mouse)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1313964	D	RGD:8661724|PMID:22328738	20140612	RGD		DNA:SNP: :rs10181656 (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9008163	Chronic Hepatitis B	susceptibility	ISO	RGD:1313964	D	RGD:25671420|PMID:25829184	20200427	RGD		DNA:SNPs, haplotypes:multiple	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1313964	D	RGD:11554173	20220816	CTD		CTD Direct Evidence: marker/mechanism	PMID:18204446|PMID:19838193
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1313964	D	RGD:7207869|PMID:22729903	20130212	RGD		DNA:SNP:intron:c.274-29069G>C (rs7582694) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1313964	D	RGD:7207878|PMID:20479942	20130212	RGD		DNA:SNP:intron:c.274-28828C>G (rs10181656) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1313964	D	RGD:7207879|PMID:18803832	20130212	RGD		DNA:SNPs:introns:c.274-23582A>C, c.274-2691G>A, c.466-1307G>A (rs7574865, rs11889341, rs10168266) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1313964	D	RGD:7207881|PMID:18516230	20130212	RGD		DNA:SNPs:intron:multiple (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1313964	D	RGD:7240710	20260805	OMIM			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1313964	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STAT4-related condition | ClinVar Annotator: match by term: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11 | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 11	PMID:25741868|PMID:28492532
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1313965	D	RGD:7207867|PMID:22798666	20130212	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9074	systemic lupus erythematosus	onset	ISO	RGD:1313964	D	RGD:7207877|PMID:23049788	20130212	RGD		DNA:SNP:intron:c.274-23582A>C (rs7574865) (human)	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9074	systemic lupus erythematosus	treatment	ISO	RGD:1313965	D	RGD:7207874|PMID:16920939	20130212	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1313965	D	RGD:8661703|PMID:10458767	20140612	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1313965	D	RGD:8661696|PMID:24242758	20140612	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9452	steatotic liver disease		ISO	RGD:1313965	D	RGD:25671424|PMID:16799967	20200427	RGD			
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9744	type 1 diabetes mellitus		ISS	RGD:1313965	D	RGD:13592920	20180518	MouseDO		OMIM:222100	
1305747	Stat4	signal transducer and activator of transcription 4	gene	DOID:9970	obesity	treatment	IDA		D	RGD:5509594|PMID:20978234	20130212	RGD			
1305749	Tmem86a	transmembrane protein 86A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305749	Tmem86a	transmembrane protein 86A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305749	Tmem86a	transmembrane protein 86A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305750	Zdhhc21	zDHHC palmitoyltransferase 21	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305750	Zdhhc21	zDHHC palmitoyltransferase 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305750	Zdhhc21	zDHHC palmitoyltransferase 21	gene	DOID:1115	sarcoma		ISO	RGD:1313969	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305750	Zdhhc21	zDHHC palmitoyltransferase 21	gene	DOID:1324	lung cancer		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305750	Zdhhc21	zDHHC palmitoyltransferase 21	gene	DOID:1909	melanoma		ISO	RGD:1313969	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305750	Zdhhc21	zDHHC palmitoyltransferase 21	gene	DOID:3275	thymoma		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305750	Zdhhc21	zDHHC palmitoyltransferase 21	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305750	Zdhhc21	zDHHC palmitoyltransferase 21	gene	DOID:4362	cervical cancer		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305750	Zdhhc21	zDHHC palmitoyltransferase 21	gene	DOID:5041	esophageal cancer		ISO	RGD:1313969	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305750	Zdhhc21	zDHHC palmitoyltransferase 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305750	Zdhhc21	zDHHC palmitoyltransferase 21	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305750	Zdhhc21	zDHHC palmitoyltransferase 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305750	Zdhhc21	zDHHC palmitoyltransferase 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346472	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1346472	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305751	Mfsd1	major facilitator superfamily domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305752	Psmd2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305752	Psmd2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305752	Psmd2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305752	Psmd2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305752	Psmd2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:3275	thymoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305752	Psmd2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305752	Psmd2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305752	Psmd2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305752	Psmd2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313972	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305752	Psmd2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305752	Psmd2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305752	Psmd2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305753	Zkscan3	zinc finger with KRAB and SCAN domains 3	gene	DOID:1909	melanoma		ISO	RGD:1313974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305753	Zkscan3	zinc finger with KRAB and SCAN domains 3	gene	DOID:3070	high grade glioma		ISO	RGD:1313974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305753	Zkscan3	zinc finger with KRAB and SCAN domains 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305753	Zkscan3	zinc finger with KRAB and SCAN domains 3	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1313974	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519692
1305753	Zkscan3	zinc finger with KRAB and SCAN domains 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305754	Ttpal	alpha tocopherol transfer protein like	gene	DOID:1909	melanoma		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305754	Ttpal	alpha tocopherol transfer protein like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305754	Ttpal	alpha tocopherol transfer protein like	gene	DOID:4362	cervical cancer		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305754	Ttpal	alpha tocopherol transfer protein like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305754	Ttpal	alpha tocopherol transfer protein like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305755	Zdhhc20	zDHHC palmitoyltransferase 20	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305755	Zdhhc20	zDHHC palmitoyltransferase 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305755	Zdhhc20	zDHHC palmitoyltransferase 20	gene	DOID:10534	stomach cancer		ISO	RGD:1606124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305755	Zdhhc20	zDHHC palmitoyltransferase 20	gene	DOID:1115	sarcoma		ISO	RGD:1606124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305755	Zdhhc20	zDHHC palmitoyltransferase 20	gene	DOID:1324	lung cancer		ISO	RGD:1606124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305755	Zdhhc20	zDHHC palmitoyltransferase 20	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305755	Zdhhc20	zDHHC palmitoyltransferase 20	gene	DOID:3275	thymoma		ISO	RGD:1606124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305755	Zdhhc20	zDHHC palmitoyltransferase 20	gene	DOID:4362	cervical cancer		ISO	RGD:1606124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305755	Zdhhc20	zDHHC palmitoyltransferase 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1606124	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305755	Zdhhc20	zDHHC palmitoyltransferase 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305755	Zdhhc20	zDHHC palmitoyltransferase 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305756	Tymp	thymidine phosphorylase	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1313979	D	RGD:2293726|PMID:9306962	20080611	RGD			
1305756	Tymp	thymidine phosphorylase	gene	DOID:0060794	hypomyelinating leukodystrophy 7		ISO	RGD:1313979	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	PMID:25326637|PMID:25741868|PMID:27104957|PMID:28492532
1305756	Tymp	thymidine phosphorylase	gene	DOID:0070331	mitochondrial DNA depletion syndrome 8b		ISO	RGD:1313979	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:16972839|PMID:22977166
1305756	Tymp	thymidine phosphorylase	gene	DOID:0080119	mitochondrial DNA depletion syndrome 1		ISO	RGD:1313979	D	RGD:7240710	20130619	OMIM			
1305756	Tymp	thymidine phosphorylase	gene	DOID:0080119	mitochondrial DNA depletion syndrome 1		ISO	RGD:1313979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) | ClinVar Annotator: match by term: TYMP-related condition	PMID:10852545|PMID:12084896|PMID:12177387|PMID:12529715|PMID:14720311|PMID:14757860|PMID:15505189|PMID:15742109|PMID:15781193|PMID:16178026|PMID:16199547|PMID:16971696|PMID:16995425|PMID:17294068|PMID:17549623|PMID:18280229|PMID:19344718|PMID:19368660|PMID:19523753|PMID:19748572|PMID:20151198|PMID:20232099|PMID:20301358|PMID:20585803|PMID:21412940|PMID:21794876|PMID:21820356|PMID:21933806|PMID:22011815|PMID:23341816|PMID:23430799|PMID:23685548|PMID:23838601|PMID:25741868|PMID:26264513|PMID:28492532|PMID:28764801|PMID:30240477|PMID:30487145|PMID:30582904|PMID:32849836|PMID:33300680|PMID:33533561|PMID:33825174|PMID:33976678|PMID:34170051|PMID:34926160|PMID:35085849|PMID:38550250|PMID:9924029
1305756	Tymp	thymidine phosphorylase	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1313979	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency	PMID:10852545|PMID:14720311|PMID:14757860|PMID:15781193|PMID:16178026|PMID:16199547|PMID:16995425|PMID:19344718|PMID:19523753|PMID:19748572|PMID:20151198|PMID:20232099|PMID:20301358|PMID:21820356|PMID:22011815|PMID:23341816|PMID:23430799|PMID:25741868|PMID:26264513|PMID:26467025|PMID:28492532|PMID:33533561|PMID:35085849|PMID:9924029
1305756	Tymp	thymidine phosphorylase	gene	DOID:10534	stomach cancer		ISO	RGD:1313979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305756	Tymp	thymidine phosphorylase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313979	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11103787|PMID:15841086
1305756	Tymp	thymidine phosphorylase	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1313979	D	RGD:2293716|PMID:16937303	20080611	RGD			
1305756	Tymp	thymidine phosphorylase	gene	DOID:1380	endometrial cancer		ISO	RGD:1313979	D	RGD:2293715|PMID:18348659	20080611	RGD			
1305756	Tymp	thymidine phosphorylase	gene	DOID:1389	polyneuropathy		ISO	RGD:1313979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:15781193|PMID:25741868|PMID:28492532|PMID:9924029
1305756	Tymp	thymidine phosphorylase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1313979	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17443278
1305756	Tymp	thymidine phosphorylase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1313979	D	RGD:2325156|PMID:19671868	20100521	RGD			
1305756	Tymp	thymidine phosphorylase	gene	DOID:1909	melanoma		ISO	RGD:1313979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305756	Tymp	thymidine phosphorylase	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1313979	D	RGD:2293721|PMID:15628771	20080611	RGD		protein:increased expression:ovary	
1305756	Tymp	thymidine phosphorylase	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1313979	D	RGD:2293722|PMID:15262124	20080611	RGD		protein:increased expression:ovary, serum	
1305756	Tymp	thymidine phosphorylase	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1313979	D	RGD:2293720|PMID:15841086	20080611	RGD			
1305756	Tymp	thymidine phosphorylase	gene	DOID:305	carcinoma		ISO	RGD:1313979	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11103787|PMID:12565868
1305756	Tymp	thymidine phosphorylase	gene	DOID:3307	teratoma		ISO	RGD:1313979	D	RGD:2293724|PMID:10886088	20080611	RGD		protein:increased expression:testis	
1305756	Tymp	thymidine phosphorylase	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:1313979	D	RGD:2325155|PMID:19760965	20100521	RGD			
1305756	Tymp	thymidine phosphorylase	gene	DOID:3744	cervical squamous cell carcinoma	disease_progression	ISO	RGD:1313979	D	RGD:2293719|PMID:16803522	20080611	RGD			
1305756	Tymp	thymidine phosphorylase	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1313979	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:11641616
1305756	Tymp	thymidine phosphorylase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1313979	D	RGD:2325156|PMID:19671868	20100521	RGD			
1305756	Tymp	thymidine phosphorylase	gene	DOID:4362	cervical cancer		ISO	RGD:1313979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305756	Tymp	thymidine phosphorylase	gene	DOID:4440	seminoma		ISO	RGD:1313979	D	RGD:2293724|PMID:10886088	20080611	RGD		protein:increased expression:testis	
1305756	Tymp	thymidine phosphorylase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1313979	D	RGD:2293717|PMID:16861722	20080611	RGD		protein:increased expression:kidney	
1305756	Tymp	thymidine phosphorylase	gene	DOID:4450	renal cell carcinoma	severity	ISO	RGD:1313979	D	RGD:2293723|PMID:12614261	20080611	RGD			
1305756	Tymp	thymidine phosphorylase	gene	DOID:4608	common bile duct neoplasm	disease_progression	ISO	RGD:1313979	D	RGD:2325158|PMID:10760693	20100521	RGD			
1305756	Tymp	thymidine phosphorylase	gene	DOID:4948	gallbladder carcinoma	disease_progression	ISO	RGD:1313979	D	RGD:2325157|PMID:18946757	20100521	RGD			
1305756	Tymp	thymidine phosphorylase	gene	DOID:5041	esophageal cancer		ISO	RGD:1313979	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305756	Tymp	thymidine phosphorylase	gene	DOID:630	genetic disease		ISO	RGD:1313979	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305756	Tymp	thymidine phosphorylase	gene	DOID:870	neuropathy		ISO	RGD:1313979	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
1305756	Tymp	thymidine phosphorylase	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:1313979	D	RGD:1601000|PMID:9924029	20070403	RGD		mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome,OMIM:603041;DNA:point mutation:exon:E289A	
1305756	Tymp	thymidine phosphorylase	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1313979	D	RGD:2293725|PMID:10685502	20080611	RGD		associated with Breast Neoplasms	
1305756	Tymp	thymidine phosphorylase	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1313979	D	RGD:2325027|PMID:11927969	20100521	RGD		associated with Cholangiocarcinoma	
1305756	Tymp	thymidine phosphorylase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1313979	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18652704
1305756	Tymp	thymidine phosphorylase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313979	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11103787
1305756	Tymp	thymidine phosphorylase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313979	D	RGD:2293714|PMID:18441329	20080611	RGD		associated with Breast Neoplasms	
1305756	Tymp	thymidine phosphorylase	gene	DOID:9001044	Choroidal Neovascularization		IEP		D	RGD:2293727|PMID:12556409	20080611	RGD			
1305756	Tymp	thymidine phosphorylase	gene	DOID:9001263	Mitochondrial DNA Depletion Syndrome, MNGIE Type		ISO	RGD:1313979	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION	PMID:10852545|PMID:14720311|PMID:14757860|PMID:15781193|PMID:16178026|PMID:16199547|PMID:16995425|PMID:19344718|PMID:19523753|PMID:19748572|PMID:20151198|PMID:20232099|PMID:20301358|PMID:21820356|PMID:22011815|PMID:23341816|PMID:23430799|PMID:25741868|PMID:26264513|PMID:26467025|PMID:28492532|PMID:33533561|PMID:35085849|PMID:9924029
1305756	Tymp	thymidine phosphorylase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1313979	D	RGD:11554173	20250708	CTD		CTD Direct Evidence: marker/mechanism	PMID:39732205
1305756	Tymp	thymidine phosphorylase	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1313979	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18652704
1305756	Tymp	thymidine phosphorylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305756	Tymp	thymidine phosphorylase	gene	DOID:9007346	Cachexia		ISO	RGD:1313979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cachexia	PMID:15781193|PMID:25741868|PMID:28492532|PMID:9924029
1305756	Tymp	thymidine phosphorylase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1313979	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15706408|PMID:17047489
1305756	Tymp	thymidine phosphorylase	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:1313979	D	RGD:2293718|PMID:16854285	20080611	RGD			
1305759	Pxn	paxillin	gene	DOID:10534	stomach cancer		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305759	Pxn	paxillin	gene	DOID:1115	sarcoma		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305759	Pxn	paxillin	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1313984	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21159652
1305759	Pxn	paxillin	gene	DOID:4362	cervical cancer		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305759	Pxn	paxillin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305759	Pxn	paxillin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305759	Pxn	paxillin	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313984	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18492274
1305759	Pxn	paxillin	gene	DOID:9004118	Experimental Melanoma		ISO	RGD:1313984	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18492274
1305759	Pxn	paxillin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305759	Pxn	paxillin	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1313984	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28100775
1305759	Pxn	paxillin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1313986	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:24084170
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1313986	D	RGD:1599878|PMID:8298653	20070220	RGD			
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1313986	D	RGD:7246919|PMID:22824526	20130626	RGD			
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1313986	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum	PMID:10766188|PMID:15654957|PMID:16081512|PMID:17079196|PMID:17084680|PMID:19609301|PMID:20054342|PMID:23173980|PMID:23278166|PMID:24218596|PMID:24728327|PMID:25256075|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26884178|PMID:27387384|PMID:28492532|PMID:28615033|PMID:29178624|PMID:29684080|PMID:30101995|PMID:30516811|PMID:31970404
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313986	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:18414213|PMID:25741868|PMID:28492532
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:0110843	xeroderma pigmentosum group A		ISO	RGD:1313986	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: XP, group A | ClinVar Annotator: match by term: Xeroderma pigmentosum group A	PMID:12177305|PMID:18414213|PMID:25741868|PMID:26227012|PMID:28492532
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:0110844	xeroderma pigmentosum group C		ISO	RGD:1313986	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:0110844	xeroderma pigmentosum group C		ISO	RGD:1313986	D	RGD:7240710	20130425	OMIM			
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:0110844	xeroderma pigmentosum group C		ISO	RGD:1313986	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: XPC-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group C | ClinVar Annotator: match by term: Xeroderma pigmentosum, group C	PMID:10766188|PMID:11511294|PMID:12177305|PMID:12509233|PMID:14662655|PMID:16081512|PMID:16199547|PMID:16550608|PMID:16990803|PMID:17079196|PMID:17576681|PMID:18414213|PMID:18809580|PMID:18955165|PMID:18955168|PMID:19953607|PMID:20054342|PMID:21273643|PMID:21482201|PMID:23173980|PMID:23278166|PMID:23400628|PMID:23984341|PMID:24218596|PMID:24728327|PMID:25256075|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26278556|PMID:26884178|PMID:27153395|PMID:27387384|PMID:27607234|PMID:28492532|PMID:28669926|PMID:29330851|PMID:29569758|PMID:29973595|PMID:30256826|PMID:30306255|PMID:30516811|PMID:30675318|PMID:31017654|PMID:31319225|PMID:32239545|PMID:33502802|PMID:33672602|PMID:33821390|PMID:34761457|PMID:35111200|PMID:36947458|PMID:8298653|PMID:9536098|PMID:9804340
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:0110844	xeroderma pigmentosum group C		ISS	RGD:1313987	D	RGD:13592920	20230718	MouseDO		OMIM:278720	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:10534	stomach cancer		ISO	RGD:1313986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:1115	sarcoma		ISO	RGD:1313986	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:18414213|PMID:25741868|PMID:28492532
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:12849	autistic disorder		ISO	RGD:1313986	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9804340
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:1324	lung cancer		ISS	RGD:1313987	D	RGD:13592920	20180518	MouseDO		OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1313986	D	RGD:645233574|PMID:15700316	20260427	RGD		DNA:SNP,haplotype:exons:499C>T,939A>C	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1313986	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27777383
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:1793	pancreatic cancer		ISO	RGD:1313986	D	RGD:2317130|PMID:18559563	20100415	RGD		DNA:polymorphism:intron:AF076952 (human)	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:2394	ovarian cancer		ISO	RGD:1313986	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:3114	serous cystadenocarcinoma	disease_progression	ISO	RGD:1313986	D	RGD:10401086|PMID:21751198	20150924	RGD		DNA:SNPs: :rs1124303, rs3731108 (human)	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:3275	thymoma		ISO	RGD:1313986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1313986	D	RGD:645233573|PMID:15533908	20260427	RGD		DNA:delins:intron:PAT	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1313986	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27777383
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313986	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:21327329|PMID:27777383
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1313986	D	RGD:645233571|PMID:17508409	20260427	RGD			
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:3910	lung adenocarcinoma	treatment	ISO	RGD:1313986	D	RGD:645233570|PMID:21327329	20260427	RGD			
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:4362	cervical cancer		ISO	RGD:1313986	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:18414213|PMID:25741868|PMID:28492532
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:4481	allergic rhinitis	severity	ISO	RGD:1313986	D	RGD:645244151|PMID:35693108	20260507	RGD		DNA:SNP: :rs2228001	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1313986	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:18414213|PMID:25741868|PMID:28492532
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:5520	head and neck squamous cell carcinoma	susceptibility	ISO	RGD:1313986	D	RGD:11053521|PMID:26001739	20260427	RGD		DNA:SNP:exon:p.A499V	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:5520	head and neck squamous cell carcinoma	susceptibility	ISO	RGD:1313986	D	RGD:645233587|PMID:17684138	20260428	RGD		DNA:SNP:exon:p.A499V	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313986	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:18414213|PMID:25741868|PMID:28492532
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:630	genetic disease		ISO	RGD:1313986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9000918	Disease Progression		ISO	RGD:1313986	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27777383
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313986	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27777383
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9003858	Environmental Illness	susceptibility	ISO	RGD:1313986	D	RGD:645233582|PMID:26655675	20260428	RGD		associated with Environmental Illness:DNA:SNPs: :rs2733532,rs2228001	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1313986	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27777383
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9004814	Chromosome Aberrations		ISO	RGD:1313986	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20106949
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1313986	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:17325666|PMID:24084170
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9006439	Electric Burns	treatment	IEP		D	RGD:713469795|PMID:24930134	20260512	RGD			
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1313986	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21216194
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313986	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:18414213|PMID:25741868|PMID:28492532
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313986	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1313986	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:24084170
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313986	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:18414213|PMID:25741868|PMID:28492532
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:1313986	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9804340
1305760	Xpc	XPC complex subunit, DNA damage recognition and repair factor	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:1313986	D	RGD:645233568|PMID:17882560	20260427	RGD		DNA:SNP,haplotype,delins:Cds,intron:Val499Ala,Lys939Gl,PAT	
1305761	Mylip	myosin regulatory light chain interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305761	Mylip	myosin regulatory light chain interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1313988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305761	Mylip	myosin regulatory light chain interacting protein	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:1313989	D	RGD:401827839|PMID:29593532	20230929	RGD			
1305761	Mylip	myosin regulatory light chain interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305761	Mylip	myosin regulatory light chain interacting protein	gene	DOID:289	endometriosis		ISO	RGD:1313988	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1305761	Mylip	myosin regulatory light chain interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305761	Mylip	myosin regulatory light chain interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305762	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305762	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305762	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305762	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305762	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313990	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305762	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305762	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305762	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305762	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305762	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305762	Ebna1bp2	EBNA1 binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313990	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1313993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrogyria	PMID:25741868|PMID:28492532
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:0080457	microcephaly, seizures, and developmental delay		ISO	RGD:1313993	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay	PMID:25741868
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1313993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1313993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1313993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313993	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313993	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1313993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:28492532
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1313993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1313993	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305764	Nusap1	nucleolar and spindle associated protein 1	gene	DOID:9970	obesity		ISO	RGD:1313993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
1305766	Nudt21	nudix hydrolase 21	gene	DOID:1324	lung cancer		ISO	RGD:1313996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305766	Nudt21	nudix hydrolase 21	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313996	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1305766	Nudt21	nudix hydrolase 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305766	Nudt21	nudix hydrolase 21	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1313996	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313998	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1313998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1313998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:1909	melanoma		ISO	RGD:1313998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:3275	thymoma		ISO	RGD:1313998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1313998	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:9007416	neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures		ISO	RGD:1313998	D	RGD:7240710	20240327	OMIM			
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:9007416	neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures		ISO	RGD:1313998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	PMID:25741868|PMID:35121750
1305767	Cpsf3	cleavage and polyadenylation specific factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305768	Cfap100	cilia and flagella associated protein 100	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602811	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305768	Cfap100	cilia and flagella associated protein 100	gene	DOID:10534	stomach cancer		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305768	Cfap100	cilia and flagella associated protein 100	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305768	Cfap100	cilia and flagella associated protein 100	gene	DOID:1115	sarcoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305768	Cfap100	cilia and flagella associated protein 100	gene	DOID:3275	thymoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305768	Cfap100	cilia and flagella associated protein 100	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305768	Cfap100	cilia and flagella associated protein 100	gene	DOID:4362	cervical cancer		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305768	Cfap100	cilia and flagella associated protein 100	gene	DOID:5041	esophageal cancer		ISO	RGD:1602811	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305768	Cfap100	cilia and flagella associated protein 100	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305768	Cfap100	cilia and flagella associated protein 100	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305769	Pink1	PTEN induced kinase 1	gene	DOID:0060369	Parkinson's disease 6		ISO	RGD:1314001	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:19048950|PMID:21421046|PMID:24475098|PMID:27003823
1305769	Pink1	PTEN induced kinase 1	gene	DOID:0060369	Parkinson's disease 6		ISO	RGD:1314001	D	RGD:7240710	20130221	OMIM			
1305769	Pink1	PTEN induced kinase 1	gene	DOID:0060369	Parkinson's disease 6		ISO	RGD:1314001	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET | ClinVar Annotator: match by term: Parkinson disease 6, autosomal recessive early-onset	PMID:15087508|PMID:15349860|PMID:15349870|PMID:15584030|PMID:16009891|PMID:16199547|PMID:17576681|PMID:18286320|PMID:18330912|PMID:18685134|PMID:20798600|PMID:21488273|PMID:21925922|PMID:22644621|PMID:23063710|PMID:23303188|PMID:23459931|PMID:23880019|PMID:24677602|PMID:25741868|PMID:26467025|PMID:27926857|PMID:28492532|PMID:28849312|PMID:31324919|PMID:32713623|PMID:33845304|PMID:35042401|PMID:37750340|PMID:9536098
1305769	Pink1	PTEN induced kinase 1	gene	DOID:0060369	Parkinson's disease 6		ISS	RGD:1314002	D	RGD:13592920	20230718	MouseDO		OMIM:605909	
1305769	Pink1	PTEN induced kinase 1	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1314001	D	RGD:8554872	20150609	ClinVar		ClinVar Annotator: match by term: Parkinson disease, late-onset	
1305769	Pink1	PTEN induced kinase 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	IEP		D	RGD:407532640|PMID:34052187	20240910	RGD			
1305769	Pink1	PTEN induced kinase 1	gene	DOID:0080855	Parkinsonism		IMP		D	RGD:13210569|PMID:24969022	20171211	RGD			
1305769	Pink1	PTEN induced kinase 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1314001	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:11254447|PMID:15349871|PMID:23046578|PMID:24441527|PMID:24792327|PMID:26558463
1305769	Pink1	PTEN induced kinase 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1314001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonism	PMID:24033266
1305769	Pink1	PTEN induced kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305769	Pink1	PTEN induced kinase 1	gene	DOID:14330	Parkinson's disease		IMP		D	RGD:11560775|PMID:25421206	20210218	RGD			
1305769	Pink1	PTEN induced kinase 1	gene	DOID:14330	Parkinson's disease		IMP		D	RGD:12880446|PMID:24157858	20170508	RGD			
1305769	Pink1	PTEN induced kinase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1314001	D	RGD:10450518|PMID:26223426	20160115	RGD			
1305769	Pink1	PTEN induced kinase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1314001	D	RGD:10450521|PMID:25639775	20160115	RGD			
1305769	Pink1	PTEN induced kinase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1314001	D	RGD:11554173	20210112	CTD		CTD Direct Evidence: marker/mechanism	PMID:17010972|PMID:21366594|PMID:22043175|PMID:24374061|PMID:25149416|PMID:30734931
1305769	Pink1	PTEN induced kinase 1	gene	DOID:1561	cognitive disorder		ISO	RGD:1314001	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:36804394
1305769	Pink1	PTEN induced kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305769	Pink1	PTEN induced kinase 1	gene	DOID:630	genetic disease		ISO	RGD:1314001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305769	Pink1	PTEN induced kinase 1	gene	DOID:769	neuroblastoma		ISO	RGD:1314001	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23334666
1305769	Pink1	PTEN induced kinase 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1314001	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24161480
1305769	Pink1	PTEN induced kinase 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1314001	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35312153
1305770	Rbm22	RNA binding motif protein 22	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305770	Rbm22	RNA binding motif protein 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305770	Rbm22	RNA binding motif protein 22	gene	DOID:10534	stomach cancer		ISO	RGD:1314003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305770	Rbm22	RNA binding motif protein 22	gene	DOID:1909	melanoma		ISO	RGD:1314003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305770	Rbm22	RNA binding motif protein 22	gene	DOID:4362	cervical cancer		ISO	RGD:1314003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305770	Rbm22	RNA binding motif protein 22	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305770	Rbm22	RNA binding motif protein 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305770	Rbm22	RNA binding motif protein 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:0060025	immunoglobulin alpha deficiency		ISO	RGD:1604037	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:20694011|PMID:27723758
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:10534	stomach cancer		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:1115	sarcoma		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1604037	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21399635
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:1289	neurodegenerative disease		ISS	RGD:1314008	D	RGD:13592920	20191226	MouseDO			
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:13774	Addison's disease		ISO	RGD:1604037	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18593762
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:13774	Addison's disease		ISO	RGD:1604037	D	RGD:5491177|PMID:18593762	20110929	RGD		DNA:polymorphism:intron:rs12917716C (human)	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:1909	melanoma		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:2377	multiple sclerosis		ISO	RGD:1604037	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18946483|PMID:19525955
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:2377	multiple sclerosis		ISO	RGD:1604037	D	RGD:5491175|PMID:21653641	20110928	RGD		DNA:polymorphism:intron:g.194570G>A, rs7184083 (human)	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:2841	asthma		ISO	RGD:1604037	D	RGD:640479928|PMID:34103634	20260323	RGD		mRNA:increased expression:lung	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:3070	high grade glioma		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:3275	thymoma		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:4362	cervical cancer		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:4481	allergic rhinitis		ISO	RGD:1604037	D	RGD:640476621|PMID:32082391	20260316	RGD		DNA:SNP: :rs7203459	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:6039	uveal melanoma		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1604037	D	RGD:5491176|PMID:19221398	20110928	RGD		DNA:polymorphism:intron:rs6498169G (human)	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1604037	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838195
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1604037	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632545|PMID:18946483
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1604037	D	RGD:2313978|PMID:18946483	20091029	RGD		DNA:polymorphism:intron:rs725613 (human)	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1604037	D	RGD:5491176|PMID:19221398	20110928	RGD		DNA:polymorphism:intron:rs2903692A (human)	
1305773	Clec16a	C-type lectin domain containing 16A	gene	DOID:9849	Meniere's disease		ISO	RGD:1604037	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Meniere disease	
1305776	Desi1	desumoylating isopeptidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305776	Desi1	desumoylating isopeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1607044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305776	Desi1	desumoylating isopeptidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1607044	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305776	Desi1	desumoylating isopeptidase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1607044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305776	Desi1	desumoylating isopeptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305776	Desi1	desumoylating isopeptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305777	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305777	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:10534	stomach cancer		ISO	RGD:1314013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305777	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305777	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1314013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	
1305777	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:1909	melanoma		ISO	RGD:1314013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305777	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:3275	thymoma		ISO	RGD:1314013	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305777	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:5041	esophageal cancer		ISO	RGD:1314013	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305777	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305777	Inpp5f	inositol polyphosphate-5-phosphatase F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305778	Sgms2	sphingomyelin synthase 2	gene	DOID:0080721	calvarial doughnut lesions with bone fragility		ISO	RGD:1605563	D	RGD:7240710	20190731	OMIM			
1305779	Lratd1	LRAT domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602648	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305779	Lratd1	LRAT domain containing 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1602648	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1305780	Tigd4	tigger transposable element derived 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305780	Tigd4	tigger transposable element derived 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305780	Tigd4	tigger transposable element derived 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305781	Atmin	ATM interactor	gene	DOID:1909	melanoma		ISO	RGD:1603699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305781	Atmin	ATM interactor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305781	Atmin	ATM interactor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305781	Atmin	ATM interactor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305781	Atmin	ATM interactor	gene	DOID:5041	esophageal cancer		ISO	RGD:1603699	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305781	Atmin	ATM interactor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305781	Atmin	ATM interactor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305781	Atmin	ATM interactor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305782	Snx10	sorting nexin 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1305782	Snx10	sorting nexin 10	gene	DOID:0060058	lymphoma		ISO	RGD:1314019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
1305782	Snx10	sorting nexin 10	gene	DOID:0080600	COVID-19		ISO	RGD:1314019	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1305782	Snx10	sorting nexin 10	gene	DOID:0110940	autosomal recessive osteopetrosis 8		ISO	RGD:1314019	D	RGD:7240710	20140911	OMIM			
1305782	Snx10	sorting nexin 10	gene	DOID:0110940	autosomal recessive osteopetrosis 8		ISO	RGD:1314019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 | ClinVar Annotator: match by term: SNX10-related condition	PMID:22499339|PMID:23123320|PMID:23280965|PMID:25212774|PMID:25741868|PMID:25811986|PMID:28492532
1305782	Snx10	sorting nexin 10	gene	DOID:0110940	autosomal recessive osteopetrosis 8		ISS	RGD:1314020	D	RGD:13592920	20230718	MouseDO		OMIM:615085	
1305782	Snx10	sorting nexin 10	gene	DOID:10534	stomach cancer		ISO	RGD:1314019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305782	Snx10	sorting nexin 10	gene	DOID:1115	sarcoma		ISO	RGD:1314019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1305782	Snx10	sorting nexin 10	gene	DOID:1324	lung cancer		ISO	RGD:1314019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1305782	Snx10	sorting nexin 10	gene	DOID:13533	osteopetrosis		ISO	RGD:1314019	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Infantile osteopetrosis | ClinVar Annotator: match by term: Osteopetrosis	PMID:25590979|PMID:25741868|PMID:27187610|PMID:28492532
1305782	Snx10	sorting nexin 10	gene	DOID:2394	ovarian cancer		ISO	RGD:1314019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1305782	Snx10	sorting nexin 10	gene	DOID:3070	high grade glioma		ISO	RGD:1314019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305782	Snx10	sorting nexin 10	gene	DOID:4362	cervical cancer		ISO	RGD:1314019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1305782	Snx10	sorting nexin 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1305782	Snx10	sorting nexin 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1305782	Snx10	sorting nexin 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1305782	Snx10	sorting nexin 10	gene	DOID:630	genetic disease		ISO	RGD:1314019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305782	Snx10	sorting nexin 10	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1314019	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1305782	Snx10	sorting nexin 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1305783	Hmgxb4	HMG-box containing 4	gene	DOID:1909	melanoma		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305783	Hmgxb4	HMG-box containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305783	Hmgxb4	HMG-box containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305783	Hmgxb4	HMG-box containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305783	Hmgxb4	HMG-box containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:1115	sarcoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:1588	thrombocytopenia		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:1909	melanoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:255	hemangioma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:630	genetic disease		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:9007873	Primary Intraosseous Vascular Malformation		ISO	RGD:1314023	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:9007873	Primary Intraosseous Vascular Malformation		ISO	RGD:1314023	D	RGD:7240710	20190315	OMIM			
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:9007873	Primary Intraosseous Vascular Malformation		ISO	RGD:1314023	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ELMO2-related condition | ClinVar Annotator: match by term: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS | ClinVar Annotator: match by term: Vascular malformation, primary intraosseous	PMID:25741868|PMID:28492532
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:9008421	Epistaxis		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305784	Elmo2	engulfment and cell motility 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305785	Manba	mannosidase beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305785	Manba	mannosidase beta	gene	DOID:0060058	lymphoma		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305785	Manba	mannosidase beta	gene	DOID:10534	stomach cancer		ISO	RGD:1314025	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:12468273|PMID:16199547|PMID:18565776|PMID:25741868|PMID:28492532|PMID:30872814|PMID:32847582|PMID:9384606
1305785	Manba	mannosidase beta	gene	DOID:1059	intellectual disability		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:18980795|PMID:19728872|PMID:22369051|PMID:25741868|PMID:28492532|PMID:30552791
1305785	Manba	mannosidase beta	gene	DOID:1115	sarcoma		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1305785	Manba	mannosidase beta	gene	DOID:1826	epilepsy		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1305785	Manba	mannosidase beta	gene	DOID:3275	thymoma		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1305785	Manba	mannosidase beta	gene	DOID:3633	beta-mannosidosis		ISO	RGD:1314025	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305785	Manba	mannosidase beta	gene	DOID:3633	beta-mannosidosis		ISO	RGD:1314025	D	RGD:7240710	20180822	OMIM			
1305785	Manba	mannosidase beta	gene	DOID:3633	beta-mannosidosis		ISO	RGD:1314025	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BETA-MANNOSIDOSIS | ClinVar Annotator: match by term: Beta-D-mannosidosis | ClinVar Annotator: match by term: Beta-mannosidase deficiency | ClinVar Annotator: match by term: Mannosidosis, beta | ClinVar Annotator: match by term: beta-mannosidosis	PMID:12468273|PMID:12890191|PMID:16199547|PMID:16401745|PMID:16904924|PMID:17420068|PMID:17576681|PMID:18565776|PMID:18980795|PMID:19728872|PMID:19763152|PMID:20307669|PMID:2079835|PMID:22369051|PMID:22406018|PMID:24033266|PMID:25640679|PMID:25741867|PMID:25741868|PMID:28492532|PMID:30552791|PMID:30872814|PMID:31115173|PMID:32847582|PMID:34374989|PMID:34906502|PMID:35018184|PMID:35442417|PMID:9384606|PMID:9536098
1305785	Manba	mannosidase beta	gene	DOID:3633	beta-mannosidosis		ISS	RGD:1314026	D	RGD:13592920	20230718	MouseDO		OMIM:248510	
1305785	Manba	mannosidase beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1314025	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305785	Manba	mannosidase beta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305785	Manba	mannosidase beta	gene	DOID:630	genetic disease		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:2079835|PMID:25741868|PMID:28492532
1305785	Manba	mannosidase beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1305785	Manba	mannosidase beta	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1305785	Manba	mannosidase beta	gene	DOID:9004538	Hearing Loss		ISO	RGD:1314025	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:12468273|PMID:16199547|PMID:18565776|PMID:25741868|PMID:28492532|PMID:30872814|PMID:32847582|PMID:9384606
1305785	Manba	mannosidase beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305785	Manba	mannosidase beta	gene	DOID:9849	Meniere's disease		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ménière's disease	PMID:18980795|PMID:19728872|PMID:22369051|PMID:25741868|PMID:28492532|PMID:30552791
1305786	Plek2	pleckstrin 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314027	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1305787	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305787	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305787	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1314029	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1305787	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305787	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1314029	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15964507
1305787	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305787	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314029	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305787	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305787	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305787	Agpat3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305788	Scmh1	Scm polycomb group protein homolog 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305788	Scmh1	Scm polycomb group protein homolog 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1314031	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1305788	Scmh1	Scm polycomb group protein homolog 1	gene	DOID:1115	sarcoma		ISO	RGD:1314031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305788	Scmh1	Scm polycomb group protein homolog 1	gene	DOID:1324	lung cancer		ISO	RGD:1314031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305788	Scmh1	Scm polycomb group protein homolog 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305788	Scmh1	Scm polycomb group protein homolog 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305788	Scmh1	Scm polycomb group protein homolog 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305788	Scmh1	Scm polycomb group protein homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305788	Scmh1	Scm polycomb group protein homolog 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305788	Scmh1	Scm polycomb group protein homolog 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305788	Scmh1	Scm polycomb group protein homolog 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1305788	Scmh1	Scm polycomb group protein homolog 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305789	Wdr1	WD repeat domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1305789	Wdr1	WD repeat domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305789	Wdr1	WD repeat domain 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1314033	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1305789	Wdr1	WD repeat domain 1	gene	DOID:0061034	autosomal dominant intellectual developmental disorder 61		ISO	RGD:1314033	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61	
1305789	Wdr1	WD repeat domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1314033	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305789	Wdr1	WD repeat domain 1	gene	DOID:11476	osteoporosis		ISO	RGD:1314033	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
1305789	Wdr1	WD repeat domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305789	Wdr1	WD repeat domain 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1314033	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17515402
1305789	Wdr1	WD repeat domain 1	gene	DOID:1909	melanoma		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305789	Wdr1	WD repeat domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305789	Wdr1	WD repeat domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305789	Wdr1	WD repeat domain 1	gene	DOID:630	genetic disease		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305789	Wdr1	WD repeat domain 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305789	Wdr1	WD repeat domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305789	Wdr1	WD repeat domain 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314033	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305789	Wdr1	WD repeat domain 1	gene	DOID:9005372	Inflammation		ISO	RGD:1314033	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17515402
1305789	Wdr1	WD repeat domain 1	gene	DOID:9005933	Lazy Leukocyte Syndrome		ISO	RGD:1314033	D	RGD:7240710	20200812	OMIM			
1305789	Wdr1	WD repeat domain 1	gene	DOID:9005933	Lazy Leukocyte Syndrome		ISO	RGD:1314033	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Lazy leukocyte syndrome | ClinVar Annotator: match by term: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME | ClinVar Annotator: match by term: WDR1-related condition	PMID:25741868|PMID:27557945|PMID:28492532
1305789	Wdr1	WD repeat domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305790	Phyhip	phytanoyl-CoA 2-hydroxylase interacting protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305790	Phyhip	phytanoyl-CoA 2-hydroxylase interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305791	Snx8	sorting nexin 8	gene	DOID:0060058	lymphoma		ISO	RGD:1314037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305791	Snx8	sorting nexin 8	gene	DOID:0080600	COVID-19		ISO	RGD:1314037	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305791	Snx8	sorting nexin 8	gene	DOID:1909	melanoma		ISO	RGD:1314037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305791	Snx8	sorting nexin 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305791	Snx8	sorting nexin 8	gene	DOID:2394	ovarian cancer		ISO	RGD:1314037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305791	Snx8	sorting nexin 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305791	Snx8	sorting nexin 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305791	Snx8	sorting nexin 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1314037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305791	Snx8	sorting nexin 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305791	Snx8	sorting nexin 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305792	Krt36	keratin 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305792	Krt36	keratin 36	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305793	Wbp1l	WW domain binding protein 1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305793	Wbp1l	WW domain binding protein 1-like	gene	DOID:1115	sarcoma		ISO	RGD:1314041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305793	Wbp1l	WW domain binding protein 1-like	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1314041	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome	PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285
1305793	Wbp1l	WW domain binding protein 1-like	gene	DOID:3275	thymoma		ISO	RGD:1314041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305793	Wbp1l	WW domain binding protein 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305794	Dsp	desmoplakin	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1314043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583980
1305794	Dsp	desmoplakin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305794	Dsp	desmoplakin	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1314043	D	RGD:1580890|PMID:12875771	19990101	RGD			
1305794	Dsp	desmoplakin	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16199547|PMID:19095136|PMID:19279339|PMID:19358943|PMID:19558499|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21756917|PMID:21859740|PMID:22240500|PMID:22555271|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23514727|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:24901346|PMID:25157032|PMID:25163546|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26187847|PMID:26230511|PMID:26569459|PMID:26606670|PMID:26656175|PMID:26850880|PMID:26899768|PMID:27153395|PMID:27532257|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28790152|PMID:29062697|PMID:29511324|PMID:29633331|PMID:29892087|PMID:29915098|PMID:30398466|PMID:30821013|PMID:30847666|PMID:31131953|PMID:31194698|PMID:31317183|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31589614|PMID:31727422|PMID:31737537|PMID:31983221|PMID:32372669|PMID:32746448|PMID:32878047|PMID:33313835|PMID:33684294|PMID:33821670|PMID:33996946|PMID:34011823|PMID:34135346|PMID:34352074|PMID:34368507|PMID:34640625|PMID:34946881|PMID:35083019|PMID:35474678|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36138163|PMID:36264615|PMID:36291626|PMID:36431211|PMID:36580316|PMID:36768812|PMID:37361972|PMID:37904629|PMID:38757491|PMID:38938828|PMID:39288222|PMID:39472908
1305794	Dsp	desmoplakin	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31319917|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:33232181|PMID:34213952|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34213952|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30206291|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34213952|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29178656|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29607617|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34137518|PMID:34213952|PMID:34290054|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22949226|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:35083019|PMID:35087879|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21270786|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25856671|PMID:25974703|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:35083019|PMID:35087879|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34486814|PMID:35083019|PMID:35087879|PMID:35581137|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29915098|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34486814|PMID:35008956|PMID:35083019|PMID:35087879|PMID:35581137|PMID:35653365|PMID:35766183|PMID:36431211|PMID:36672924|PMID:37477868|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29915098|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34486814|PMID:34815391|PMID:35008956|PMID:35083019|PMID:35087879|PMID:35581137|PMID:35653365|PMID:35766183|PMID:36431211|PMID:36672924|PMID:37477868|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29915098|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32592540|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34486814|PMID:34815391|PMID:35008956|PMID:35083019|PMID:35087879|PMID:35581137|PMID:35653365|PMID:35766183|PMID:36431211|PMID:36672924|PMID:37477868|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24598986|PMID:246676|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:26073755|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27854218|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29555771|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29892087|PMID:29915098|PMID:29956481|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32114801|PMID:32233023|PMID:32268277|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32516855|PMID:32592540|PMID:32600061|PMID:32659924|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33079602|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35083019|PMID:35087879
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:35151254|PMID:35444050|PMID:35474678|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37461109|PMID:37477868|PMID:37589201|PMID:37904629|PMID:491020|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10395892|PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24598986|PMID:246676|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:26073755|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29555771|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915098|PMID:29956481|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32114801|PMID:32233023|PMID:32268277|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32516855|PMID:32592540|PMID:32600061|PMID:32659924|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33079602|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33821670|PMID:33857019|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34815391
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:34935411|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35151254|PMID:35444050|PMID:35474678|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37461109|PMID:37477868|PMID:37589201|PMID:37904629|PMID:37937776|PMID:491020|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24598986|PMID:246676|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:26073755|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29555771|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32114801|PMID:32228044|PMID:32233023|PMID:32268277|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32516855|PMID:32592540|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33079602|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33821670|PMID:33857019|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34298581|PMID:34317553
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35151254|PMID:35444050|PMID:35474678|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36580316|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37461109|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37904629|PMID:37937776|PMID:491020|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10395892|PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24598986|PMID:246676|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:26073755|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29555771|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32114801|PMID:32228044|PMID:32233023|PMID:32268277|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32516855|PMID:32592540|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33079602|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33821670|PMID:33857019|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34135346|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34298581
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:34317553|PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35151254|PMID:35444050|PMID:35474678|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36138163|PMID:36178741|PMID:36431211|PMID:36580316|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37461109|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37904629|PMID:37936624|PMID:37937776|PMID:491020|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10395892|PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24901346|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25733715|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26084686|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26545710|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29165669|PMID:29178656|PMID:29181379|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29555771|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31131953|PMID:31194698|PMID:31195250|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31847883|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32114801|PMID:32228044|PMID:32233023|PMID:32268277|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32522011|PMID:32592540|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32878047|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33049752|PMID:33079602|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:33762593|PMID:33821670|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34213952|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34640625|PMID:34815391|PMID:34930020|PMID:34935411|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35151254|PMID:35352813|PMID:35444050|PMID:35470680|PMID:35474678|PMID:35475074|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36008935|PMID:36136372|PMID:36138163|PMID:36178741|PMID:36264615|PMID:36431211|PMID:36580316|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37198425|PMID:37418234|PMID:37461109|PMID:37477868|PMID:37510372|PMID:37589201|PMID:37652022|PMID:37904629|PMID:37936624|PMID:37937776|PMID:38254962|PMID:38540378|PMID:38691546|PMID:38933053|PMID:38938828|PMID:39205944|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: TNNI3-related disorder	PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24901346|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25733715|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26084686|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26545710|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29165669|PMID:29178656|PMID:29181379|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29555771|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30217213|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31131953|PMID:31194698|PMID:31195250|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31847883|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32114801|PMID:32228044|PMID:32233023|PMID:32268277|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32522011|PMID:32592540|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32878047|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33049752|PMID:33079602|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33821670|PMID:33874732|PMID:33996946|PMID:34026522
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: TNNI3-related disorder	PMID:34033898|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34640625|PMID:34815391|PMID:34930020|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35151254|PMID:35352813|PMID:35444050|PMID:35470680|PMID:35474678|PMID:35475074|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36008935|PMID:36136372|PMID:36138163|PMID:36178741|PMID:36264615|PMID:36431211|PMID:36580316|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37198425|PMID:37418234|PMID:37461109|PMID:37477868|PMID:37510372|PMID:37589201|PMID:37652022|PMID:37904629|PMID:37936624|PMID:37937776|PMID:38254962|PMID:38540378|PMID:38691546|PMID:38933053|PMID:38938828|PMID:39205944|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: cardiomyopathy	PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16917092|PMID:17576681|PMID:17934502|PMID:19178614|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22216297|PMID:22555271|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24901346|PMID:24967631|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25637381|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25825460|PMID:25979592|PMID:26084686|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26399581|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26846766|PMID:26899768|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27413182|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28361054|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29095814|PMID:29165669|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29555771|PMID:29606362|PMID:29607617|PMID:29759408|PMID:29802319|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915097|PMID:29956481|PMID:29961767|PMID:30086531|PMID:30122538|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30398466|PMID:30403391|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30821013|PMID:30847666|PMID:30919684|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31114860|PMID:31118017|PMID:31131953|PMID:31194698|PMID:31195250|PMID:31317183|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31484862|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31737537|PMID:31770195|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32164419|PMID:32233023|PMID:32268277|PMID:32372669|PMID:32410525|PMID:32522011|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32878047|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32969603|PMID:33029862|PMID:33049752|PMID:33082984|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33821670|PMID:33874732|PMID:33954932|PMID:34137518|PMID:34194005|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34426522|PMID:34486814|PMID:34640625|PMID:34815391|PMID:34930020|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35200695|PMID:35352813|PMID:35444050|PMID:35470680|PMID:35474678|PMID:35653365|PMID:35766183|PMID:35819174|PMID:35947370|PMID:36008935|PMID:36178741|PMID:36264615|PMID:36431211|PMID:36580316|PMID:36768812|PMID:36788754|PMID:37198425|PMID:37418234|PMID:37450050|PMID:37461109|PMID:37477868|PMID:37510372|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37881594|PMID:37904629|PMID:37937776|PMID:38254962|PMID:38489124|PMID:38540378|PMID:38691546|PMID:38757491|PMID:38895864|PMID:38938828|PMID:39205944|PMID:39285490|PMID:39288222|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:15210133|PMID:16199547|PMID:16467215|PMID:16917092|PMID:17576681|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20864495|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24503780|PMID:24598986|PMID:24901346|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25637381|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25825460|PMID:25856671|PMID:25979592|PMID:26084686|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27413182|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28361054|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29095814|PMID:29165669|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29555771|PMID:29606362|PMID:29607617|PMID:29759408|PMID:29802319|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915097|PMID:29956481|PMID:29961767|PMID:30086531|PMID:30122538|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30403391|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30821013|PMID:30847666|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31114860|PMID:31118017|PMID:31131953|PMID:31194698|PMID:31195250|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31484862|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31770195|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32164419|PMID:32233023|PMID:32268277|PMID:32372669|PMID:32410525|PMID:32522011|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32878047|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32969603|PMID:33029862|PMID:33049752|PMID:33082984|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33821670|PMID:33874732|PMID:33954932|PMID:34033898|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34486814|PMID:34640625|PMID:34815391|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35200695|PMID:35352813|PMID:35444050|PMID:35470680|PMID:35474678|PMID:35653365|PMID:35766183|PMID:35947370|PMID:36008935|PMID:36138163|PMID:36178741|PMID:36264615|PMID:36431211|PMID:36580316|PMID:36768812|PMID:36788754|PMID:37198425|PMID:37418234|PMID:37461109|PMID:37477868|PMID:37510372|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37881594|PMID:37904629|PMID:37937776|PMID:38254962|PMID:38489124|PMID:38540378|PMID:38691546|PMID:38757491|PMID:38938828|PMID:39205944|PMID:39285490|PMID:39288222|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305794	Dsp	desmoplakin	gene	DOID:0051064	left ventricular failure		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Left ventricular failure	PMID:20400443|PMID:20716751|PMID:21606390|PMID:21859740|PMID:22555271|PMID:23137101|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:30398466|PMID:31402444|PMID:33821670|PMID:35653365|PMID:35766183
1305794	Dsp	desmoplakin	gene	DOID:0060319	cardiac arrest		ISO	RGD:1314043	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Cardiac Arrest | ClinVar Annotator: match by term: Cardiac arrest	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1314043	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome 1	
1305794	Dsp	desmoplakin	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1314043	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction | ClinVar Annotator: match by term: Non compaction cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31983221
1305794	Dsp	desmoplakin	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:1314043	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1	PMID:28492532|PMID:33552729
1305794	Dsp	desmoplakin	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:0070554	palmoplantar keratoderma and woolly hair		ISO	RGD:1314043	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome	PMID:10395892|PMID:12101406|PMID:12802069|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29511324|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29885824|PMID:29915098|PMID:30086531|PMID:30165862|PMID:30276209|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31073624|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31333075|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32516855|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33857019|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34389451|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35026164|PMID:35087879|PMID:35444050|PMID:35581137|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36868229|PMID:37589201|PMID:37904629|PMID:37937776|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0070554	palmoplantar keratoderma and woolly hair		ISO	RGD:1314043	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair | ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome	PMID:10395892|PMID:12101406|PMID:12802069|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23891292|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29511324|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29618732|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29885824|PMID:29915098|PMID:30086531|PMID:30165862|PMID:30276209|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31073624|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31333075|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32516855|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33857019|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34137518|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34389451|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35026164|PMID:35087879|PMID:35352813|PMID:35444050|PMID:35581137|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36868229|PMID:37198425|PMID:37589201|PMID:37652022|PMID:37904629|PMID:37936624|PMID:37937776|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0070554	palmoplantar keratoderma and woolly hair		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome	PMID:12101406|PMID:12802069|PMID:17576681|PMID:20031617|PMID:20152563|PMID:20716751|PMID:21397041|PMID:21636032|PMID:21756917|PMID:23651034|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25741868|PMID:25979592|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26399581|PMID:26585738|PMID:26604139|PMID:26833927|PMID:27532257|PMID:27698334|PMID:27930701|PMID:28255936|PMID:28341588|PMID:28361054|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28790152|PMID:29062697|PMID:29095814|PMID:29606362|PMID:29802319|PMID:29885824|PMID:30398466|PMID:30615648|PMID:30731207|PMID:30775854|PMID:30847666|PMID:31114860|PMID:31118017|PMID:31514951|PMID:31534214|PMID:31770195|PMID:3198322|PMID:31983221|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:33082984|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33684294|PMID:33874732|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35026164|PMID:35087879|PMID:35444050|PMID:36008935|PMID:36768812|PMID:37198425|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37904629|PMID:39288222|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444|PMID:31983221
1305794	Dsp	desmoplakin	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31402444|PMID:31983221|PMID:37418234
1305794	Dsp	desmoplakin	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31983221
1305794	Dsp	desmoplakin	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868
1305794	Dsp	desmoplakin	gene	DOID:0080600	COVID-19		ISO	RGD:1314043	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease COVID-19	
1305794	Dsp	desmoplakin	gene	DOID:0081109	keratosis palmoplantaris striata 2		ISO	RGD:1314043	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305794	Dsp	desmoplakin	gene	DOID:0081109	keratosis palmoplantaris striata 2		ISO	RGD:1314043	D	RGD:7240710	20130221	OMIM			
1305794	Dsp	desmoplakin	gene	DOID:0081109	keratosis palmoplantaris striata 2		ISO	RGD:1314043	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: KERATODERMA, PALMOPLANTAR, STRIATE FORM II | ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II | ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA II	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22454510|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25637381|PMID:25691752|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25825460|PMID:25979592|PMID:26099957|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26399581|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26833927|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29386531|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29802319|PMID:29885824|PMID:29915098|PMID:30165862|PMID:30276209|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30975432|PMID:31073624|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34389451|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35444050|PMID:35581137|PMID:35819174|PMID:36138163|PMID:36178741|PMID:36431211|PMID:36580316|PMID:36672924|PMID:36768812|PMID:36868229|PMID:37198425|PMID:37589201|PMID:37904629|PMID:37936624|PMID:9536098|PMID:9887343
1305794	Dsp	desmoplakin	gene	DOID:0081109	keratosis palmoplantaris striata 2		ISO	RGD:1314043	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II | ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA II	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22454510|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25637381|PMID:25691752|PMID:25733715|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25825460|PMID:25979592|PMID:26099957|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26399581|PMID:26545710|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26833927|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27930701|PMID:28008423|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29386531|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29802319|PMID:29885824|PMID:29915098|PMID:30165862|PMID:30276209|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30975432|PMID:31073624|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34137518|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34389451|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35352813|PMID:35444050|PMID:35581137|PMID:35819174|PMID:36138163|PMID:36178741|PMID:36431211|PMID:36580316|PMID:36672924|PMID:36768812|PMID:36868229|PMID:37198425|PMID:37589201|PMID:37652022|PMID:37904629|PMID:37936624|PMID:9536098|PMID:9887343
1305794	Dsp	desmoplakin	gene	DOID:0081109	keratosis palmoplantaris striata 2		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: KERATODERMA, PALMOPLANTAR, STRIATE FORM II | ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS STRIATA II | ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:17576681|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20864495|PMID:21397041|PMID:21636032|PMID:21756917|PMID:22454510|PMID:23292937|PMID:23651034|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25741868|PMID:25825460|PMID:25979592|PMID:26099957|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26399581|PMID:26585738|PMID:26604139|PMID:26833927|PMID:27532257|PMID:27698334|PMID:27930701|PMID:28255936|PMID:28341588|PMID:28361054|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28790152|PMID:29062697|PMID:29095814|PMID:29386531|PMID:29606362|PMID:29802319|PMID:29885824|PMID:30398466|PMID:30615648|PMID:30731207|PMID:30775854|PMID:30847666|PMID:31114860|PMID:31118017|PMID:31514951|PMID:31534214|PMID:31770195|PMID:3198322|PMID:31983221|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:33082984|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33874732|PMID:34135346|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35444050|PMID:36008935|PMID:36138163|PMID:36431211|PMID:36580316|PMID:36768812|PMID:37198425|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37904629|PMID:39288222|PMID:9536098|PMID:9887343
1305794	Dsp	desmoplakin	gene	DOID:0090128	Carvajal syndrome		ISO	RGD:1314043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21193976
1305794	Dsp	desmoplakin	gene	DOID:0090128	Carvajal syndrome		ISO	RGD:1314043	D	RGD:7240710	20130221	OMIM			
1305794	Dsp	desmoplakin	gene	DOID:0090128	Carvajal syndrome		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA | ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Dilated cardiomyopathy, woolly hair, keratoderma | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair	PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:17576681|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21756917|PMID:2185974|PMID:21859740|PMID:22216297|PMID:22240500|PMID:22555271|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24503780|PMID:24901346|PMID:24967631|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25693453|PMID:25741868|PMID:25820315|PMID:26084686|PMID:26099957|PMID:26187847|PMID:26230511|PMID:26265630|PMID:26383259|PMID:26399581|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27005929|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27332903|PMID:27374306|PMID:27413182|PMID:27532257|PMID:27930701|PMID:28152038|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28784889|PMID:28790152|PMID:28798025|PMID:29016939|PMID:29062697|PMID:29178656|PMID:29447731|PMID:29511324|PMID:29633331|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29892087|PMID:29915097|PMID:29956481|PMID:30011071|PMID:30133754|PMID:30160835|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30821013|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31024045|PMID:31118017|PMID:31131953|PMID:31317183|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31589614|PMID:31737537|PMID:31770195|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32233023|PMID:32372669|PMID:32593191|PMID:32659924|PMID:32746448|PMID:32808748|PMID:32826072|PMID:32878047|PMID:32880476|PMID:32931854|PMID:32969603|PMID:33029862|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33821670|PMID:33874732|PMID:33954932|PMID:34026522|PMID:34033898|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34486814|PMID:34640625|PMID:34946881|PMID:35008956|PMID:35083019|PMID:35438637|PMID:35444050|PMID:35474678|PMID:35653365|PMID:35766183|PMID:35947370|PMID:36138163|PMID:36264615|PMID:36291626|PMID:36431211|PMID:36580316|PMID:36768812|PMID:36788754|PMID:37198425|PMID:37418234|PMID:37461109|PMID:37589201|PMID:37702310|PMID:37904629|PMID:38254962|PMID:38383124|PMID:38691546|PMID:38938828|PMID:39288222|PMID:39472908|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0090128	Carvajal syndrome		ISS	RGD:1620673	D	RGD:13592920	20230718	MouseDO		OMIM:605676	
1305794	Dsp	desmoplakin	gene	DOID:0110070	arrhythmogenic right ventricular dysplasia 1		ISO	RGD:1314043	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:0110076	arrhythmogenic right ventricular dysplasia 8		ISO	RGD:1314043	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305794	Dsp	desmoplakin	gene	DOID:0110076	arrhythmogenic right ventricular dysplasia 8		ISO	RGD:1314043	D	RGD:7240710	20130221	OMIM			
1305794	Dsp	desmoplakin	gene	DOID:0110076	arrhythmogenic right ventricular dysplasia 8		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8 | ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8	PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12373648|PMID:12802069|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16917092|PMID:17576681|PMID:17934502|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19763152|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20152563|PMID:20307669|PMID:20400443|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20864495|PMID:20940358|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:2185974|PMID:21859740|PMID:22216297|PMID:22240500|PMID:22406018|PMID:22555271|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24503780|PMID:24598986|PMID:24825141|PMID:24901346|PMID:24938629|PMID:24967631|PMID:25157032|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25616645|PMID:25693453|PMID:25733715|PMID:25741868|PMID:25741904|PMID:25765472|PMID:25820315|PMID:25825460|PMID:25979592|PMID:26084686|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26303123|PMID:26314686|PMID:26383259|PMID:26399581|PMID:26545710|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26656175|PMID:26688388|PMID:26735901|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27332903|PMID:27374306|PMID:27413182|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27831900|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28152038|PMID:28255936|PMID:28341588|PMID:28361054|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28750076|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29095814|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29517769|PMID:29555771|PMID:29606362|PMID:29633331|PMID:29759408|PMID:29802319|PMID:29884292|PMID:29885824|PMID:29892087|PMID:29915097|PMID:29956481|PMID:29961767|PMID:30086531|PMID:30122538|PMID:30133754|PMID:30160835|PMID:30286183|PMID:30345701|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30403391|PMID:30453078|PMID:30615648|PMID:30670673|PMID:30699244|PMID:30700137|PMID:30731207|PMID:30775854|PMID:30821013|PMID:30847666|PMID:30975432|PMID:30993396|PMID:31024045|PMID:31028357|PMID:31064352|PMID:31073624|PMID:31114860|PMID:31118017|PMID:31131953|PMID:31194698|PMID:31195250|PMID:31251381|PMID:31317183|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31737537|PMID:31770195|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32041989|PMID:32164419|PMID:32233023|PMID:32268277|PMID:32356610|PMID:32372669|PMID:32522011|PMID:32546831|PMID:32592540|PMID:32593191|PMID:32659924|PMID:32746448|PMID:32808748|PMID:32826072|PMID:32878047|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32969603|PMID:33029862|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33652732|PMID:33684294|PMID:33821670|PMID:33874732|PMID:33954932|PMID:33996946|PMID:34011823|PMID:34026522|PMID:34033898|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34287473|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34486814|PMID:34640625|PMID:34815391|PMID:34946881|PMID:34949102|PMID:35008956|PMID:35026164|PMID:35083019|PMID:35087879|PMID:35146008|PMID:35348702|PMID:35352813|PMID:35438637|PMID:35444050|PMID:35470680|PMID:35474678|PMID:35653365|PMID:35766183|PMID:35947370|PMID:36008935|PMID:36043215|PMID:36136372|PMID:36138163|PMID:36175056|PMID:36264615|PMID:36291626|PMID:36396199|PMID:36431211|PMID:36580316|PMID:36693943|PMID:36768812|PMID:36788754|PMID:36939041|PMID:37048743|PMID:37198425|PMID:37361972|PMID:37418234
1305794	Dsp	desmoplakin	gene	DOID:0110076	arrhythmogenic right ventricular dysplasia 8		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8 | ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8	PMID:37461109|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37904629|PMID:38254962|PMID:38383124|PMID:38414301|PMID:38489124|PMID:38540378|PMID:38691546|PMID:38757491|PMID:38938828|PMID:39288222|PMID:39472908|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:0110076	arrhythmogenic right ventricular dysplasia 8		ISS	RGD:1620673	D	RGD:13592920	20230718	MouseDO		OMIM:607450	
1305794	Dsp	desmoplakin	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:1314043	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9	PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:25820315|PMID:28492532|PMID:30345701|PMID:30700137
1305794	Dsp	desmoplakin	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9	PMID:25741868
1305794	Dsp	desmoplakin	gene	DOID:0110218	Brugada syndrome 1		ISO	RGD:1314043	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome	PMID:25351510|PMID:25741868|PMID:28492532|PMID:31568572|PMID:31983221
1305794	Dsp	desmoplakin	gene	DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J		ISO	RGD:1314043	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10	PMID:24033266|PMID:25741868|PMID:27854218|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314043	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:31264976
1305794	Dsp	desmoplakin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314043	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:31264976|PMID:31402444
1305794	Dsp	desmoplakin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314043	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444
1305794	Dsp	desmoplakin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314043	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444|PMID:31983221
1305794	Dsp	desmoplakin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314043	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31402444|PMID:31983221|PMID:37418234
1305794	Dsp	desmoplakin	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1314043	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	PMID:20716751|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25741868|PMID:26084686|PMID:26265630|PMID:28492532|PMID:29062697|PMID:29178656|PMID:29633331|PMID:30382575|PMID:30615648|PMID:30775854|PMID:33996946
1305794	Dsp	desmoplakin	gene	DOID:0110430	dilated cardiomyopathy 1G		ISO	RGD:1314043	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1G	PMID:25741868|PMID:27532257|PMID:29062697
1305794	Dsp	desmoplakin	gene	DOID:0110454	dilated cardiomyopathy 1S		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1S	
1305794	Dsp	desmoplakin	gene	DOID:0111073	progressive familial heart block		ISO	RGD:1314043	D	RGD:8554872	20170711	ClinVar		ClinVar Annotator: match by term: Progressive familial heart block	PMID:25741868
1305794	Dsp	desmoplakin	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:10534	stomach cancer		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:10969	hemiplegia		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiplegia	PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532|PMID:30821013|PMID:32746448
1305794	Dsp	desmoplakin	gene	DOID:1115	sarcoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305794	Dsp	desmoplakin	gene	DOID:11155	hypohidrosis		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:26148547|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:11156	anhidrosis		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anhidrosis	PMID:25741868|PMID:26148547|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:11830	myopia		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:27532257|PMID:28492532|PMID:28527814
1305794	Dsp	desmoplakin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314043	D	RGD:1580892|PMID:8944586	19990101	RGD			
1305794	Dsp	desmoplakin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:20129281|PMID:21723241|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:25741868|PMID:26138720|PMID:26846766|PMID:27930701|PMID:28471438|PMID:28492532|PMID:29062697|PMID:29255176|PMID:31402444|PMID:35470680
1305794	Dsp	desmoplakin	gene	DOID:12176	goiter		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:1580891|PMID:11063735	19990101	RGD			
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16061754|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31568572|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16061754|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31983221|PMID:32942234|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30398466|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32942234|PMID:34137518|PMID:34290054|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:33762593|PMID:34137518|PMID:34290054|PMID:34317553|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32942234|PMID:33087929|PMID:33762593|PMID:34137518|PMID:34290054|PMID:34317553|PMID:35581137|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29178656|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32942234|PMID:33087929|PMID:33762593|PMID:33996946|PMID:34137518|PMID:34290054|PMID:34317553|PMID:34815391|PMID:35581137|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29178656|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32942234|PMID:33079602|PMID:33087929|PMID:33762593|PMID:33996946|PMID:34137518|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35581137|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29178656|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33087929|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34137518|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36768812|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29178656|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33087929|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34137518|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36768812|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20129281|PMID:20400443|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26138720|PMID:26230511|PMID:26265630|PMID:26383259|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29062697|PMID:29178656|PMID:29633331|PMID:29915097|PMID:29915098|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34137518|PMID:34194005|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36580316|PMID:36768812|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20129281|PMID:20400443|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26138720|PMID:26230511|PMID:26265630|PMID:26383259|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29062697|PMID:29178656|PMID:29633331|PMID:29915097|PMID:29915098|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36138163|PMID:36431211|PMID:36580316|PMID:36768812|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20129281|PMID:20400443|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26138720|PMID:26230511|PMID:26265630|PMID:26383259|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29062697|PMID:29178656|PMID:29633331|PMID:29915097|PMID:29915098|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36138163|PMID:36431211|PMID:36580316|PMID:36768812|PMID:38510230|PMID:38938828|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20129281|PMID:20400443|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26230511|PMID:26265630|PMID:26383259|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29062697|PMID:29178656|PMID:29633331|PMID:29915097|PMID:29915098|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36138163|PMID:36431211|PMID:36580316|PMID:36768812|PMID:38510230|PMID:38938828|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:17934502|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20129281|PMID:20400443|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26138720|PMID:26230511|PMID:26383259|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29062697|PMID:29178656|PMID:29633331|PMID:29915097|PMID:29915098|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30993396|PMID:31110529|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36138163|PMID:36431211|PMID:36580316|PMID:36768812|PMID:37450050|PMID:38510230|PMID:38938828|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:17934502|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20129281|PMID:20400443|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26138720|PMID:26230511|PMID:26383259|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29062697|PMID:29178656|PMID:29633331|PMID:29915097|PMID:29915098|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30993396|PMID:31110529|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33762593|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36138163|PMID:36431211|PMID:36580316|PMID:36768812|PMID:37450050|PMID:38510230|PMID:38938828|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:17934502|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20129281|PMID:20400443|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26138720|PMID:26230511|PMID:26383259|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29062697|PMID:29178656|PMID:29633331|PMID:29915097|PMID:29915098|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30993396|PMID:31110529|PMID:31251381|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33762593|PMID:33874732|PMID:33996946|PMID:34026522|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36138163|PMID:36431211|PMID:36580316|PMID:36768812|PMID:37450050|PMID:38510230|PMID:38938828|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dilated CardioMyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16917092|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20152563|PMID:20716751|PMID:20864495|PMID:21606396|PMID:21756917|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25741868|PMID:25936878|PMID:26138720|PMID:26230511|PMID:26383259|PMID:26399581|PMID:26656175|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28790152|PMID:29062697|PMID:29633331|PMID:29915097|PMID:30012837|PMID:30382575|PMID:30398466|PMID:30775854|PMID:30821013|PMID:30847666|PMID:30993396|PMID:31251381|PMID:31317183|PMID:31402444|PMID:31514951|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32372669|PMID:32659924|PMID:32746448|PMID:32880476|PMID:33874732|PMID:33954932|PMID:34135346|PMID:34137518|PMID:34194005|PMID:34317553|PMID:34352074|PMID:35083019|PMID:36138163|PMID:36252119|PMID:36431211|PMID:36580316|PMID:36768812|PMID:37418234|PMID:38510230|PMID:38938828
1305794	Dsp	desmoplakin	gene	DOID:1324	lung cancer		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305794	Dsp	desmoplakin	gene	DOID:1596	depressive disorder		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:1697	ichthyosis		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:25741868|PMID:26148547|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:1909	melanoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532|PMID:33460606
1305794	Dsp	desmoplakin	gene	DOID:1969	cerebral palsy		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:2030	anxiety disorder		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:25741868|PMID:26148547|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305794	Dsp	desmoplakin	gene	DOID:2841	asthma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:2843	long QT syndrome		ISO	RGD:1314043	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:19863551|PMID:20716751|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25741868|PMID:27097650|PMID:28074886|PMID:28416588|PMID:28492532|PMID:28759816|PMID:30993396|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:2843	long QT syndrome		ISO	RGD:1314043	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19863551|PMID:19924139|PMID:20525856|PMID:20716751|PMID:20738328|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26585738|PMID:26656175|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28759816|PMID:29511324|PMID:30354334|PMID:30398466|PMID:30847666|PMID:30993396|PMID:31402444|PMID:31514951|PMID:31737537|PMID:32277046|PMID:32372669|PMID:34033898|PMID:34290054|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:2843	long QT syndrome		ISO	RGD:1314043	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19863551|PMID:19924139|PMID:20525856|PMID:20716751|PMID:20738328|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26585738|PMID:26656175|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28759816|PMID:29511324|PMID:30354334|PMID:30398466|PMID:30847666|PMID:30993396|PMID:31402444|PMID:31514951|PMID:31737537|PMID:32277046|PMID:32372669|PMID:32826072|PMID:34026522|PMID:34033898|PMID:34290054|PMID:35083019|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:2843	long QT syndrome		ISO	RGD:1314043	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19863551|PMID:19924139|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26383259|PMID:26585738|PMID:26656175|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28759816|PMID:29062697|PMID:29511324|PMID:29915097|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30847666|PMID:30993396|PMID:31402444|PMID:31514951|PMID:31737537|PMID:32277046|PMID:32372669|PMID:32826072|PMID:34026522|PMID:34033898|PMID:34290054|PMID:35083019|PMID:35352813|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:2843	long QT syndrome		ISO	RGD:1314043	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19863551|PMID:19924139|PMID:20524011|PMID:20525856|PMID:20716751|PMID:20738328|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26383259|PMID:26585738|PMID:26656175|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28759816|PMID:29062697|PMID:29511324|PMID:29915097|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30847666|PMID:30993396|PMID:31402444|PMID:31514951|PMID:31737537|PMID:32277046|PMID:32372669|PMID:32826072|PMID:34026522|PMID:34033898|PMID:34290054|PMID:35083019|PMID:35352813|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:2843	long QT syndrome		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:20524011|PMID:20525856|PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:27532257|PMID:28341588|PMID:28492532|PMID:29062697|PMID:29511324|PMID:30382575|PMID:30821013|PMID:30847666|PMID:31402444|PMID:32746448|PMID:34033898
1305794	Dsp	desmoplakin	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1314043	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28166215
1305794	Dsp	desmoplakin	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma | ClinVar Annotator: match by term: Palmoplantar keratodermas	PMID:11841538|PMID:20738328|PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1314043	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28166215
1305794	Dsp	desmoplakin	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1314043	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532|PMID:32233023
1305794	Dsp	desmoplakin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305794	Dsp	desmoplakin	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Restrictive cardiomyopathy	PMID:25351510|PMID:25741868|PMID:28492532|PMID:28790152
1305794	Dsp	desmoplakin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305794	Dsp	desmoplakin	gene	DOID:4362	cervical cancer		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:5041	esophageal cancer		ISO	RGD:1314043	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305794	Dsp	desmoplakin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:29892087|PMID:31131953|PMID:31447099|PMID:31589614|PMID:33684294|PMID:36264615
1305794	Dsp	desmoplakin	gene	DOID:6364	migraine		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine Disorders	PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532|PMID:30821013|PMID:32746448
1305794	Dsp	desmoplakin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305794	Dsp	desmoplakin	gene	DOID:7998	hyperthyroidism		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:27532257|PMID:28492532|PMID:28527814
1305794	Dsp	desmoplakin	gene	DOID:820	myocarditis		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocarditis	PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:34213952
1305794	Dsp	desmoplakin	gene	DOID:850	lung disease		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868
1305794	Dsp	desmoplakin	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1314043	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arrhythmia | ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:16917092|PMID:20400443|PMID:20716751|PMID:21606390|PMID:21859740|PMID:22555271|PMID:23137101|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25525159|PMID:25741868|PMID:27532257|PMID:28471438|PMID:28492532|PMID:30398466|PMID:31402444|PMID:33821670|PMID:35653365|PMID:35766183|PMID:38938828
1305794	Dsp	desmoplakin	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:24033266|PMID:25693453|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31983221|PMID:33500567
1305794	Dsp	desmoplakin	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9001733	Tinnitus		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9002630	Epidermolysis Bullosa, Lethal Acantholytic		ISO	RGD:1314043	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305794	Dsp	desmoplakin	gene	DOID:9002630	Epidermolysis Bullosa, Lethal Acantholytic		ISO	RGD:1314043	D	RGD:7240710	20130221	OMIM			
1305794	Dsp	desmoplakin	gene	DOID:9002630	Epidermolysis Bullosa, Lethal Acantholytic		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC | ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa	PMID:11063735|PMID:12101406|PMID:12802069|PMID:15210133|PMID:17576681|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20524011|PMID:20525856|PMID:20613772|PMID:20716751|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21756917|PMID:21859740|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23514727|PMID:23651034|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25741868|PMID:25979592|PMID:26099957|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26399581|PMID:26585738|PMID:26604139|PMID:26656175|PMID:26833927|PMID:27135274|PMID:27153395|PMID:27532257|PMID:27698334|PMID:27930701|PMID:28255936|PMID:28341588|PMID:28361054|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28790152|PMID:29062697|PMID:29095814|PMID:29386531|PMID:29511324|PMID:29606362|PMID:29618732|PMID:29802319|PMID:29885824|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30821013|PMID:30847666|PMID:31114860|PMID:31118017|PMID:31402444|PMID:31514951|PMID:31534214|PMID:31770195|PMID:3198322|PMID:31983221|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:33082984|PMID:33313835|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33874732|PMID:34033898|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35026164|PMID:35087879|PMID:35444050|PMID:36008935|PMID:36768812|PMID:37198425|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37904629|PMID:39288222|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9002919	Sudden Unexpected Nocturnal Death Syndrome		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome	PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9003539	Hyperacusis		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9003674	Chest Pain		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chest pain	PMID:20400443|PMID:20716751|PMID:21606390|PMID:21859740|PMID:22555271|PMID:23137101|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:30398466|PMID:31402444|PMID:33821670|PMID:35653365|PMID:35766183
1305794	Dsp	desmoplakin	gene	DOID:9004026	Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis		ISO	RGD:1314043	D	RGD:7240710	20150812	OMIM			
1305794	Dsp	desmoplakin	gene	DOID:9004026	Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS | ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	PMID:11063735|PMID:12101406|PMID:12802069|PMID:17576681|PMID:20031617|PMID:20152563|PMID:20716751|PMID:21397041|PMID:21636032|PMID:21756917|PMID:22795705|PMID:22949226|PMID:23292937|PMID:23651034|PMID:23861362|PMID:23891292|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25741868|PMID:25979592|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26399581|PMID:26585738|PMID:26604139|PMID:26833927|PMID:27532257|PMID:27698334|PMID:27930701|PMID:28255936|PMID:28341588|PMID:28361054|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28790152|PMID:29062697|PMID:29095814|PMID:29386531|PMID:29606362|PMID:29802319|PMID:29885824|PMID:30398466|PMID:30615648|PMID:30731207|PMID:30775854|PMID:30847666|PMID:31064352|PMID:31114860|PMID:31118017|PMID:31514951|PMID:31534214|PMID:31770195|PMID:3198322|PMID:31983221|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:33082984|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33652588|PMID:33684294|PMID:33874732|PMID:34317553|PMID:34352074|PMID:34766015|PMID:34815391|PMID:35026164|PMID:35087879|PMID:35444050|PMID:36008935|PMID:36768812|PMID:37198425|PMID:37589201|PMID:37652022|PMID:37702310|PMID:37904629|PMID:39288222|PMID:9536098
1305794	Dsp	desmoplakin	gene	DOID:9004416	Paroxysmal Ventricular Fibrillation		ISO	RGD:1314043	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Idiopathic ventricular fibrillation | ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9005077	Joint Instability		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1314043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:23396983|PMID:23861362|PMID:24033266|PMID:24070718|PMID:25741868|PMID:28492532|PMID:29062697|PMID:31402444|PMID:31638414|PMID:37418234
1305794	Dsp	desmoplakin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1314043	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1305794	Dsp	desmoplakin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532|PMID:37702310
1305794	Dsp	desmoplakin	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9007380	Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE		ISO	RGD:1314043	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9007736	Vertigo		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9007820	Sudden Death		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	PMID:25741868|PMID:27332903|PMID:28492532|PMID:30847666
1305794	Dsp	desmoplakin	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:1314043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20435227
1305794	Dsp	desmoplakin	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden cardiac death	PMID:20716751|PMID:20864495|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532|PMID:35008956
1305794	Dsp	desmoplakin	gene	DOID:9008023	Memory Disorders		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314043	D	RGD:8554872	20210907	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25741904|PMID:28527814|PMID:31028357
1305794	Dsp	desmoplakin	gene	DOID:9008421	Epistaxis		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1305794	Dsp	desmoplakin	gene	DOID:9834	hyperopia		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:27532257|PMID:28492532|PMID:28527814
1305794	Dsp	desmoplakin	gene	DOID:987	alopecia		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:25741868
1305794	Dsp	desmoplakin	gene	DOID:9970	obesity		ISO	RGD:1314043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:27532257|PMID:28492532|PMID:28527814
1305795	Trim21	tripartite motif-containing 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305795	Trim21	tripartite motif-containing 21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305795	Trim21	tripartite motif-containing 21	gene	DOID:1909	melanoma		ISO	RGD:1345175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305795	Trim21	tripartite motif-containing 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305795	Trim21	tripartite motif-containing 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305795	Trim21	tripartite motif-containing 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305796	Atr	ATR checkpoint kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305796	Atr	ATR checkpoint kinase	gene	DOID:0050569	Seckel syndrome		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seckel syndrome	PMID:25741868|PMID:28492532
1305796	Atr	ATR checkpoint kinase	gene	DOID:0050569	Seckel syndrome		ISS	RGD:1557923	D	RGD:13592920	20180518	MouseDO			
1305796	Atr	ATR checkpoint kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305796	Atr	ATR checkpoint kinase	gene	DOID:0070007	Seckel syndrome 1		ISO	RGD:1314047	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305796	Atr	ATR checkpoint kinase	gene	DOID:0070007	Seckel syndrome 1		ISO	RGD:1314047	D	RGD:7240710	20130425	OMIM			
1305796	Atr	ATR checkpoint kinase	gene	DOID:0070007	Seckel syndrome 1		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: MICROCEPHALIC PRIMORDIAL DWARFISM I | ClinVar Annotator: match by term: SECKEL SYNDROME 1 | ClinVar Annotator: match by term: Seckel syndrome 1	PMID:15987455|PMID:17010193|PMID:17576681|PMID:18414213|PMID:21228398|PMID:23144622|PMID:25741868|PMID:26845104|PMID:28492532|PMID:28518168|PMID:30159786|PMID:30199583|PMID:30262796|PMID:30995915|PMID:32461654|PMID:32522261|PMID:32606146|PMID:33057211|PMID:35181726|PMID:9536098
1305796	Atr	ATR checkpoint kinase	gene	DOID:0070007	Seckel syndrome 1		ISO	RGD:1557923	D	RGD:10053614|PMID:19620979	20150715	RGD			
1305796	Atr	ATR checkpoint kinase	gene	DOID:0070007	Seckel syndrome 1	susceptibility	ISO	RGD:1314047	D	RGD:1599404|PMID:12640452	20070201	RGD		DNA:point mutation:2101A>G (human)	
1305796	Atr	ATR checkpoint kinase	gene	DOID:0080202	adenoid cystic carcinoma	treatment	ISO	RGD:1314047	D	RGD:150340693|PMID:32001675	20210826	RGD			
1305796	Atr	ATR checkpoint kinase	gene	DOID:10316	pneumoconiosis		ISO	RGD:1314047	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
1305796	Atr	ATR checkpoint kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305796	Atr	ATR checkpoint kinase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1314047	D	RGD:10047419|PMID:23861893	20150713	RGD			
1305796	Atr	ATR checkpoint kinase	gene	DOID:10907	microcephaly		ISO	RGD:1314047	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1305796	Atr	ATR checkpoint kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:15987455|PMID:18414213|PMID:25741868|PMID:28492532|PMID:32522261
1305796	Atr	ATR checkpoint kinase	gene	DOID:1115	sarcoma		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305796	Atr	ATR checkpoint kinase	gene	DOID:1324	lung cancer		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305796	Atr	ATR checkpoint kinase	gene	DOID:1324	lung cancer	treatment	ISO	RGD:1314047	D	RGD:150340694|PMID:25010037	20210827	RGD			
1305796	Atr	ATR checkpoint kinase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1305796	Atr	ATR checkpoint kinase	gene	DOID:1612	breast cancer		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:26845104
1305796	Atr	ATR checkpoint kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1314047	D	RGD:2317234|PMID:18381943	20100323	RGD		DNA:SNP: :340C>T (human)	
1305796	Atr	ATR checkpoint kinase	gene	DOID:1909	melanoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305796	Atr	ATR checkpoint kinase	gene	DOID:219	colon cancer		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:25741868|PMID:26845104|PMID:28492532
1305796	Atr	ATR checkpoint kinase	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1314047	D	RGD:150340676|PMID:17879369	20210826	RGD		DNA:mutations: :	
1305796	Atr	ATR checkpoint kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305796	Atr	ATR checkpoint kinase	gene	DOID:3070	high grade glioma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305796	Atr	ATR checkpoint kinase	gene	DOID:3275	thymoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305796	Atr	ATR checkpoint kinase	gene	DOID:3459	breast carcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multifocal breast carcinoma	PMID:25741868|PMID:26845104|PMID:28492532
1305796	Atr	ATR checkpoint kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305796	Atr	ATR checkpoint kinase	gene	DOID:4159	skin cancer		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: skin cancer	PMID:21228398|PMID:23144622|PMID:25741868|PMID:26845104|PMID:27084275|PMID:28492532
1305796	Atr	ATR checkpoint kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305796	Atr	ATR checkpoint kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305796	Atr	ATR checkpoint kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305796	Atr	ATR checkpoint kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305796	Atr	ATR checkpoint kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4	PMID:38348036
1305796	Atr	ATR checkpoint kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305796	Atr	ATR checkpoint kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305796	Atr	ATR checkpoint kinase	gene	DOID:630	genetic disease		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15987455|PMID:18414213|PMID:25741868|PMID:28492532|PMID:32522261
1305796	Atr	ATR checkpoint kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305796	Atr	ATR checkpoint kinase	gene	DOID:9001916	Fetal Death		ISO	RGD:1557923	D	RGD:150340675|PMID:15282542	20210826	RGD			
1305796	Atr	ATR checkpoint kinase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314047	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25415046
1305796	Atr	ATR checkpoint kinase	gene	DOID:9002856	Cutaneous Telangiectasia and Cancer Syndrome, Familial		ISO	RGD:1314047	D	RGD:7240710	20140911	OMIM			
1305796	Atr	ATR checkpoint kinase	gene	DOID:9002856	Cutaneous Telangiectasia and Cancer Syndrome, Familial		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	PMID:15987455|PMID:17576681|PMID:18414213|PMID:21228398|PMID:22341969|PMID:23144622|PMID:25741868|PMID:26845104|PMID:28492532|PMID:30262796|PMID:30995915|PMID:32522261|PMID:9536098
1305796	Atr	ATR checkpoint kinase	gene	DOID:9004643	Urologic Neoplasms		ISO	RGD:1314047	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23618899
1305796	Atr	ATR checkpoint kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305796	Atr	ATR checkpoint kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1314047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer predisposing syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25741868|PMID:26845104|PMID:28492532|PMID:33558524
1305796	Atr	ATR checkpoint kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314047	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1305796	Atr	ATR checkpoint kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305796	Atr	ATR checkpoint kinase	gene	DOID:9261	nasopharynx carcinoma	treatment	ISO	RGD:1314047	D	RGD:150340692|PMID:28820634	20210826	RGD			
1305797	Ttc39b	tetratricopeptide repeat domain 39B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305797	Ttc39b	tetratricopeptide repeat domain 39B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305797	Ttc39b	tetratricopeptide repeat domain 39B	gene	DOID:1115	sarcoma		ISO	RGD:1314048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305797	Ttc39b	tetratricopeptide repeat domain 39B	gene	DOID:1909	melanoma		ISO	RGD:1314048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305797	Ttc39b	tetratricopeptide repeat domain 39B	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:1314049	D	RGD:401827839|PMID:29593532	20230929	RGD			
1305797	Ttc39b	tetratricopeptide repeat domain 39B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305797	Ttc39b	tetratricopeptide repeat domain 39B	gene	DOID:3070	high grade glioma		ISO	RGD:1314048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305797	Ttc39b	tetratricopeptide repeat domain 39B	gene	DOID:4362	cervical cancer		ISO	RGD:1314048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305797	Ttc39b	tetratricopeptide repeat domain 39B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305797	Ttc39b	tetratricopeptide repeat domain 39B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305797	Ttc39b	tetratricopeptide repeat domain 39B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305797	Ttc39b	tetratricopeptide repeat domain 39B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1314050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1314050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314050	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1314050	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1305798	Mboat2	membrane bound glycerophospholipid O-acyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305799	Depdc1b	DEP domain containing 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305799	Depdc1b	DEP domain containing 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305799	Depdc1b	DEP domain containing 1B	gene	DOID:0080600	COVID-19		ISO	RGD:1314052	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305799	Depdc1b	DEP domain containing 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1314052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305799	Depdc1b	DEP domain containing 1B	gene	DOID:1115	sarcoma		ISO	RGD:1314052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305799	Depdc1b	DEP domain containing 1B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305799	Depdc1b	DEP domain containing 1B	gene	DOID:3070	high grade glioma		ISO	RGD:1314052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305799	Depdc1b	DEP domain containing 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1314052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305799	Depdc1b	DEP domain containing 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314052	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305799	Depdc1b	DEP domain containing 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314052	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1305799	Depdc1b	DEP domain containing 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305799	Depdc1b	DEP domain containing 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305799	Depdc1b	DEP domain containing 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305800	Ms4a6a	membrane spanning 4-domains A6A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305800	Ms4a6a	membrane spanning 4-domains A6A	gene	DOID:1115	sarcoma		ISO	RGD:1323386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305800	Ms4a6a	membrane spanning 4-domains A6A	gene	DOID:1324	lung cancer		ISO	RGD:1323386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305800	Ms4a6a	membrane spanning 4-domains A6A	gene	DOID:1909	melanoma		ISO	RGD:1323386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305800	Ms4a6a	membrane spanning 4-domains A6A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305800	Ms4a6a	membrane spanning 4-domains A6A	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1323386	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
1305800	Ms4a6a	membrane spanning 4-domains A6A	gene	DOID:3070	high grade glioma		ISO	RGD:1323386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305800	Ms4a6a	membrane spanning 4-domains A6A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305800	Ms4a6a	membrane spanning 4-domains A6A	gene	DOID:4362	cervical cancer		ISO	RGD:1323386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305800	Ms4a6a	membrane spanning 4-domains A6A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305800	Ms4a6a	membrane spanning 4-domains A6A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305800	Ms4a6a	membrane spanning 4-domains A6A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305800	Ms4a6a	membrane spanning 4-domains A6A	gene	DOID:9256	colorectal cancer		ISO	RGD:1323386	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305800	Ms4a6a	membrane spanning 4-domains A6A	gene	DOID:9775	diastolic heart failure		ISO	RGD:1323386	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1305801	Mylk3	myosin light chain kinase 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1604762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
1305801	Mylk3	myosin light chain kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1305801	Mylk3	myosin light chain kinase 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1604762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:28492532
1305801	Mylk3	myosin light chain kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1604762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1305801	Mylk3	myosin light chain kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305801	Mylk3	myosin light chain kinase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1305801	Mylk3	myosin light chain kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1305804	Dusp2	dual specificity phosphatase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1314060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305804	Dusp2	dual specificity phosphatase 2	gene	DOID:0080600	COVID-19		ISO	RGD:1314060	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
1305804	Dusp2	dual specificity phosphatase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305804	Dusp2	dual specificity phosphatase 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1314060	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1305804	Dusp2	dual specificity phosphatase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305805	Card6	caspase recruitment domain family, member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305805	Card6	caspase recruitment domain family, member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305805	Card6	caspase recruitment domain family, member 6	gene	DOID:0080600	COVID-19		ISO	RGD:1314062	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305805	Card6	caspase recruitment domain family, member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1314062	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305805	Card6	caspase recruitment domain family, member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305805	Card6	caspase recruitment domain family, member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1314062	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305805	Card6	caspase recruitment domain family, member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305805	Card6	caspase recruitment domain family, member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:0060058	lymphoma		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:3070	high grade glioma		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1314064	D	RGD:151665741|PMID:25050929	20220330	RGD		DNA:hypermethylation	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1314064	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305806	Col14a1	collagen type XIV alpha 1 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:1115	sarcoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:1324	lung cancer		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:1909	melanoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1602189	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305808	Slc44a3	solute carrier family 44, member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602189	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305809	Nkain4	Sodium/potassium transporting ATPase interacting 4	gene	DOID:10534	stomach cancer		ISO	RGD:1314067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305809	Nkain4	Sodium/potassium transporting ATPase interacting 4	gene	DOID:1115	sarcoma		ISO	RGD:1314067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305809	Nkain4	Sodium/potassium transporting ATPase interacting 4	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1314067	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1305809	Nkain4	Sodium/potassium transporting ATPase interacting 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305809	Nkain4	Sodium/potassium transporting ATPase interacting 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305810	Tspan4	tetraspanin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305810	Tspan4	tetraspanin 4	gene	DOID:1115	sarcoma		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305810	Tspan4	tetraspanin 4	gene	DOID:1909	melanoma		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305810	Tspan4	tetraspanin 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305810	Tspan4	tetraspanin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305810	Tspan4	tetraspanin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305810	Tspan4	tetraspanin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305810	Tspan4	tetraspanin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305810	Tspan4	tetraspanin 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305812	Osr2	odd-skipped related transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305812	Osr2	odd-skipped related transcription factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1345615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305812	Osr2	odd-skipped related transcription factor 2	gene	DOID:289	endometriosis		ISO	RGD:1345615	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1305812	Osr2	odd-skipped related transcription factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305812	Osr2	odd-skipped related transcription factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305812	Osr2	odd-skipped related transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305813	Fbxl7	F-box and leucine-rich repeat protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305813	Fbxl7	F-box and leucine-rich repeat protein 7	gene	DOID:4362	cervical cancer		ISO	RGD:1314074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305813	Fbxl7	F-box and leucine-rich repeat protein 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305813	Fbxl7	F-box and leucine-rich repeat protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305814	Tfdp2	transcription factor Dp-2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305814	Tfdp2	transcription factor Dp-2	gene	DOID:0060058	lymphoma		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305814	Tfdp2	transcription factor Dp-2	gene	DOID:0080600	COVID-19		ISO	RGD:1314075	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305814	Tfdp2	transcription factor Dp-2	gene	DOID:10534	stomach cancer		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305814	Tfdp2	transcription factor Dp-2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305814	Tfdp2	transcription factor Dp-2	gene	DOID:1115	sarcoma		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305814	Tfdp2	transcription factor Dp-2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1314075	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
1305814	Tfdp2	transcription factor Dp-2	gene	DOID:4362	cervical cancer		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305814	Tfdp2	transcription factor Dp-2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314075	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305814	Tfdp2	transcription factor Dp-2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305814	Tfdp2	transcription factor Dp-2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305814	Tfdp2	transcription factor Dp-2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305815	Podxl2	podocalyxin-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305815	Podxl2	podocalyxin-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1347781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305815	Podxl2	podocalyxin-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347781	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305815	Podxl2	podocalyxin-like 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305815	Podxl2	podocalyxin-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305815	Podxl2	podocalyxin-like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305815	Podxl2	podocalyxin-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305816	Kera	keratocan	gene	DOID:0060287	cornea plana		ISS	RGD:1314079	D	RGD:13592920	20180518	MouseDO		OMIM:121400 | OMIM:217300	
1305816	Kera	keratocan	gene	DOID:10126	keratoconus		ISO	RGD:1314078	D	RGD:1600400|PMID:11683372	20070307	RGD			
1305816	Kera	keratocan	gene	DOID:11342	arcus senilis		ISO	RGD:1314078	D	RGD:1600335|PMID:10802664	20070307	RGD		autosomal recessive cornea plana, OMIM:217300	
1305816	Kera	keratocan	gene	DOID:2566	corneal dystrophy		ISO	RGD:1314078	D	RGD:1600335|PMID:10802664	20070307	RGD		autosomal recessive cornea plana, OMIM:217300	
1305816	Kera	keratocan	gene	DOID:3275	thymoma		ISO	RGD:1314078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305816	Kera	keratocan	gene	DOID:5041	esophageal cancer		ISO	RGD:1314078	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305816	Kera	keratocan	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305816	Kera	keratocan	gene	DOID:9002263	Cornea Plana 2		ISO	RGD:1314078	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305816	Kera	keratocan	gene	DOID:9002263	Cornea Plana 2		ISO	RGD:1314078	D	RGD:7240710	20130221	OMIM			
1305816	Kera	keratocan	gene	DOID:9002263	Cornea Plana 2		ISO	RGD:1314078	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEA PLANA 2 | ClinVar Annotator: match by term: Cornea plana 2 | ClinVar Annotator: match by term: KERA-related disorder	PMID:10802664|PMID:11754099|PMID:16234475|PMID:17679937|PMID:23834557|PMID:25741868|PMID:28492532|PMID:28677912|PMID:28799822|PMID:31059048|PMID:32830442
1305816	Kera	keratocan	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305817	Eipr1	EARP complex and GARP complex interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305817	Eipr1	EARP complex and GARP complex interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305817	Eipr1	EARP complex and GARP complex interacting protein 1	gene	DOID:0081465	neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections		ISO	RGD:1314080	D	RGD:7240710	20260805	OMIM			
1305817	Eipr1	EARP complex and GARP complex interacting protein 1	gene	DOID:0081465	neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections		ISO	RGD:1314080	D	RGD:8554872	20260804	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOPLASIA OF THE CORPUS CALLOSUM, AND RECURRENT INFECTIONS	PMID:25741868
1305817	Eipr1	EARP complex and GARP complex interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305817	Eipr1	EARP complex and GARP complex interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1314080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305817	Eipr1	EARP complex and GARP complex interacting protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305817	Eipr1	EARP complex and GARP complex interacting protein 1	gene	DOID:303	substance-related disorder		ISO	RGD:1314080	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1305817	Eipr1	EARP complex and GARP complex interacting protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305817	Eipr1	EARP complex and GARP complex interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314080	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305817	Eipr1	EARP complex and GARP complex interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:1115	sarcoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:1324	lung cancer		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:1909	melanoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305819	Slc43a2	solute carrier family 43 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305820	Disp3	dispatched RND transporter family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305820	Disp3	dispatched RND transporter family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1603018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305820	Disp3	dispatched RND transporter family member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305820	Disp3	dispatched RND transporter family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305820	Disp3	dispatched RND transporter family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1305821	Plpp7	phospholipid phosphatase 7 (inactive)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305821	Plpp7	phospholipid phosphatase 7 (inactive)	gene	DOID:5041	esophageal cancer		ISO	RGD:1314085	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305821	Plpp7	phospholipid phosphatase 7 (inactive)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305821	Plpp7	phospholipid phosphatase 7 (inactive)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603693	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305822	Dpy19l1	dpy-19 like C-mannosyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305823	Cep20	centrosomal protein 20	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305823	Cep20	centrosomal protein 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305823	Cep20	centrosomal protein 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1606173	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305823	Cep20	centrosomal protein 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305823	Cep20	centrosomal protein 20	gene	DOID:9000664	Familial Thoracic Aortic Aneurysm 4		ISO	RGD:26891515|RGD:26893177	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus	PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725
1305823	Cep20	centrosomal protein 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305824	Tmem134	transmembrane protein 134	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305824	Tmem134	transmembrane protein 134	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305824	Tmem134	transmembrane protein 134	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305824	Tmem134	transmembrane protein 134	gene	DOID:1324	lung cancer		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305824	Tmem134	transmembrane protein 134	gene	DOID:3275	thymoma		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305824	Tmem134	transmembrane protein 134	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305824	Tmem134	transmembrane protein 134	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305824	Tmem134	transmembrane protein 134	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:1115	sarcoma		ISO	RGD:1314090	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:1324	lung cancer		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:1909	melanoma		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:3275	thymoma		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314090	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1305825	Tpte2	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305826	Dnajb4	DnaJ heat shock protein family (Hsp40) member B4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305826	Dnajb4	DnaJ heat shock protein family (Hsp40) member B4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305826	Dnajb4	DnaJ heat shock protein family (Hsp40) member B4	gene	DOID:0081353	congenital myopathy 21		ISO	RGD:1314092	D	RGD:7240710	20230505	OMIM			
1305826	Dnajb4	DnaJ heat shock protein family (Hsp40) member B4	gene	DOID:0081353	congenital myopathy 21		ISO	RGD:1314092	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE	
1305826	Dnajb4	DnaJ heat shock protein family (Hsp40) member B4	gene	DOID:11720	distal myopathy		ISS	RGD:1314093	D	RGD:13592920	20230330	MouseDO			
1305826	Dnajb4	DnaJ heat shock protein family (Hsp40) member B4	gene	DOID:1909	melanoma		ISO	RGD:1314092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305826	Dnajb4	DnaJ heat shock protein family (Hsp40) member B4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1314094	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:1324	lung cancer		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314094	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1314094	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21573905
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305827	Cndp2	carnosine dipeptidase 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:1314094	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:10534	stomach cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:1115	sarcoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:1324	lung cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:1909	melanoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606660	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1305828	Dpy19l4	dpy-19 like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305831	Pomp	proteasome maturation protein	gene	DOID:0050486	exanthem		ISO	RGD:1314101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:25741868
1305831	Pomp	proteasome maturation protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305831	Pomp	proteasome maturation protein	gene	DOID:0060914	proteosome-associated autoinflammatory syndrome 2		ISO	RGD:1314101	D	RGD:7240710	20190315	OMIM			
1305831	Pomp	proteasome maturation protein	gene	DOID:0060914	proteosome-associated autoinflammatory syndrome 2		ISO	RGD:1314101	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: POMP-related condition	PMID:25741868|PMID:28492532
1305831	Pomp	proteasome maturation protein	gene	DOID:0080600	COVID-19		ISO	RGD:1314101	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305831	Pomp	proteasome maturation protein	gene	DOID:10534	stomach cancer		ISO	RGD:1314101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305831	Pomp	proteasome maturation protein	gene	DOID:1115	sarcoma		ISO	RGD:1314101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305831	Pomp	proteasome maturation protein	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1314101	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553957
1305831	Pomp	proteasome maturation protein	gene	DOID:1826	epilepsy		ISO	RGD:1314101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1305831	Pomp	proteasome maturation protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305831	Pomp	proteasome maturation protein	gene	DOID:630	genetic disease		ISO	RGD:1314101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305831	Pomp	proteasome maturation protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305831	Pomp	proteasome maturation protein	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1314101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
1305831	Pomp	proteasome maturation protein	gene	DOID:9007082	Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma		ISO	RGD:1314101	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305831	Pomp	proteasome maturation protein	gene	DOID:9007082	Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma		ISO	RGD:1314101	D	RGD:7240710	20150617	OMIM			
1305831	Pomp	proteasome maturation protein	gene	DOID:9007082	Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma		ISO	RGD:1314101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KLICK SYNDROME	PMID:25741868
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:16917484|PMID:18317597|PMID:23950152|PMID:25525159|PMID:25741868|PMID:28192796|PMID:28492532|PMID:30582903|PMID:34198599
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:0110408	retinitis pigmentosa 11		ISO	RGD:1314103	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:0110408	retinitis pigmentosa 11		ISO	RGD:1314103	D	RGD:7240710	20130425	OMIM			
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:0110408	retinitis pigmentosa 11		ISO	RGD:1314103	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PRPF31-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 11 | ClinVar Annotator: match by term: Retinitis pigmentosa 11	PMID:11545739|PMID:16799052|PMID:17325180|PMID:17576681|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25525159|PMID:25741868|PMID:26872967|PMID:27391102|PMID:28492532|PMID:29847639|PMID:29957067|PMID:30582903|PMID:31054281|PMID:31690835|PMID:31892304|PMID:32014492|PMID:32483926|PMID:33085829|PMID:33749171|PMID:33946315|PMID:34906470|PMID:36317469|PMID:8004108|PMID:8808602|PMID:9536098
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:0110408	retinitis pigmentosa 11		ISS	RGD:1552306	D	RGD:13592920	20230718	MouseDO		OMIM:600138	
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8547535|PMID:23701314	20140217	RGD			
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25741868|PMID:28041643|PMID:28166811|PMID:28492532|PMID:29847639|PMID:30337596|PMID:30582903|PMID:30718709|PMID:30921587|PMID:33095315
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29260190|PMID:29847639|PMID:30337596|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30921587|PMID:33090715|PMID:33095315|PMID:34906470
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29260190|PMID:29847639|PMID:30337596|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30921587|PMID:31814694|PMID:33090715|PMID:33095315|PMID:34906470|PMID:36909829
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:24265693|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29260190|PMID:29305715|PMID:29847639|PMID:30029497|PMID:30337596|PMID:30360737|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30921587|PMID:31213501|PMID:31814694|PMID:3253185|PMID:32531858|PMID:33090715|PMID:33095315|PMID:33749171|PMID:33946315|PMID:34906470|PMID:35138024|PMID:35836572|PMID:36819107|PMID:36909829
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:24265693|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29260190|PMID:29305715|PMID:29847639|PMID:30029497|PMID:30337596|PMID:30360737|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30902645|PMID:30921587|PMID:31213501|PMID:31814694|PMID:3253185|PMID:32531858|PMID:33090715|PMID:33095315|PMID:33749171|PMID:33946315|PMID:34906470|PMID:35138024|PMID:35836572|PMID:36819107|PMID:36909829
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:24265693|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29260190|PMID:29305715|PMID:29847639|PMID:30029497|PMID:30360737|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30902645|PMID:30921587|PMID:31213501|PMID:31814694|PMID:3253185|PMID:32531858|PMID:33090715|PMID:33095315|PMID:33749171|PMID:33946315|PMID:34906470|PMID:35138024|PMID:35836572|PMID:36819107
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199547|PMID:18317597|PMID:23950152|PMID:25324289|PMID:25741868|PMID:28492532|PMID:28512305|PMID:29260190|PMID:30718709|PMID:30902645|PMID:30921587|PMID:31814694|PMID:32014492|PMID:32531858|PMID:33095315|PMID:34906470|PMID:36317469
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1314103	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:30718709
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:5679	retinal disease		ISO	RGD:1314103	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:28492532|PMID:30718709
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:630	genetic disease		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:37734845
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:8501	fundus dystrophy		ISO	RGD:1314103	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11545739|PMID:16199547|PMID:16799052|PMID:16917484|PMID:17003455|PMID:17576681|PMID:18317597|PMID:20861475|PMID:23343310|PMID:23950152|PMID:24202059|PMID:24265693|PMID:24664689|PMID:2552515|PMID:25525159|PMID:25741868|PMID:26872967|PMID:27208204|PMID:27898983|PMID:28041643|PMID:28157192|PMID:28192796|PMID:2825385|PMID:28492532|PMID:28559085|PMID:29260190|PMID:29305715|PMID:29785639|PMID:29847639|PMID:30029497|PMID:30360737|PMID:30582903|PMID:3071870|PMID:30718709|PMID:31106028|PMID:31213501|PMID:31892304|PMID:32014492|PMID:3253185|PMID:32531858|PMID:33090715|PMID:33749171|PMID:33946315|PMID:34198599|PMID:34906470|PMID:3513802|PMID:35138024|PMID:35836572|PMID:36338669|PMID:36460718|PMID:36819107|PMID:9536098
1305832	Prpf31	pre-mRNA processing factor 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:3070	high grade glioma		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604545	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1604545	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1305833	Anks3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:1909	melanoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:3275	thymoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305834	Zgrf1	zinc finger, GRF-type containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305835	Tectb	tectorin beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1314106	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305835	Tectb	tectorin beta	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1314106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1305835	Tectb	tectorin beta	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1314106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1305836	Rasgef1a	RasGEF domain family, member 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305836	Rasgef1a	RasGEF domain family, member 1A	gene	DOID:1909	melanoma		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305836	Rasgef1a	RasGEF domain family, member 1A	gene	DOID:3275	thymoma		ISO	RGD:1314108	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305836	Rasgef1a	RasGEF domain family, member 1A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305836	Rasgef1a	RasGEF domain family, member 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305836	Rasgef1a	RasGEF domain family, member 1A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305836	Rasgef1a	RasGEF domain family, member 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305836	Rasgef1a	RasGEF domain family, member 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305836	Rasgef1a	RasGEF domain family, member 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305837	Spire2	spire-type actin nucleation factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305837	Spire2	spire-type actin nucleation factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305837	Spire2	spire-type actin nucleation factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305837	Spire2	spire-type actin nucleation factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305837	Spire2	spire-type actin nucleation factor 2	gene	DOID:1909	melanoma		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305837	Spire2	spire-type actin nucleation factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305837	Spire2	spire-type actin nucleation factor 2	gene	DOID:3275	thymoma		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305837	Spire2	spire-type actin nucleation factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305837	Spire2	spire-type actin nucleation factor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305837	Spire2	spire-type actin nucleation factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305837	Spire2	spire-type actin nucleation factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305837	Spire2	spire-type actin nucleation factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305838	Dppa5	developmental pluripotency associated 5	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1344123	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
1305839	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314113	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1305839	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305839	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:1115	sarcoma		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305839	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:1324	lung cancer		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305839	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:1909	melanoma		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305839	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305839	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:2661	myoepithelioma		ISO	RGD:1314113	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1305839	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:3275	thymoma		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305839	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305839	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314113	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305839	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305839	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305839	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305839	Arih2	ariadne RBR E3 ubiquitin protein ligase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305840	Abcg4	ATP binding cassette subfamily G member 4	gene	DOID:10283	prostate cancer		ISO	RGD:1314115	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305840	Abcg4	ATP binding cassette subfamily G member 4	gene	DOID:10283	prostate cancer		ISO	RGD:1314115	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305840	Abcg4	ATP binding cassette subfamily G member 4	gene	DOID:3070	high grade glioma		ISO	RGD:1314115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305840	Abcg4	ATP binding cassette subfamily G member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305840	Abcg4	ATP binding cassette subfamily G member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305840	Abcg4	ATP binding cassette subfamily G member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305840	Abcg4	ATP binding cassette subfamily G member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305841	Gpr158	G protein-coupled receptor 158	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305841	Gpr158	G protein-coupled receptor 158	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305841	Gpr158	G protein-coupled receptor 158	gene	DOID:1115	sarcoma		ISO	RGD:1314117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305841	Gpr158	G protein-coupled receptor 158	gene	DOID:1909	melanoma		ISO	RGD:1314117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305841	Gpr158	G protein-coupled receptor 158	gene	DOID:3275	thymoma		ISO	RGD:1314117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305841	Gpr158	G protein-coupled receptor 158	gene	DOID:4362	cervical cancer		ISO	RGD:1314117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305841	Gpr158	G protein-coupled receptor 158	gene	DOID:5041	esophageal cancer		ISO	RGD:1314117	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305841	Gpr158	G protein-coupled receptor 158	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305841	Gpr158	G protein-coupled receptor 158	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314117	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1305841	Gpr158	G protein-coupled receptor 158	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305841	Gpr158	G protein-coupled receptor 158	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305843	Caln1	calneuron 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305843	Caln1	calneuron 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305843	Caln1	calneuron 1	gene	DOID:3070	high grade glioma		ISO	RGD:1314120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305843	Caln1	calneuron 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314120	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305843	Caln1	calneuron 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305843	Caln1	calneuron 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305843	Caln1	calneuron 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305843	Caln1	calneuron 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305844	Ralyl	RALY RNA binding protein-like	gene	DOID:1909	melanoma		ISO	RGD:1606457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305844	Ralyl	RALY RNA binding protein-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305844	Ralyl	RALY RNA binding protein-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305844	Ralyl	RALY RNA binding protein-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305844	Ralyl	RALY RNA binding protein-like	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606457	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
1305844	Ralyl	RALY RNA binding protein-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305845	Styxl1	serine/threonine/tyrosine interacting-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305845	Styxl1	serine/threonine/tyrosine interacting-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305845	Styxl1	serine/threonine/tyrosine interacting-like 1	gene	DOID:1909	melanoma		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305845	Styxl1	serine/threonine/tyrosine interacting-like 1	gene	DOID:3070	high grade glioma		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305845	Styxl1	serine/threonine/tyrosine interacting-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353281	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305845	Styxl1	serine/threonine/tyrosine interacting-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305845	Styxl1	serine/threonine/tyrosine interacting-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305845	Styxl1	serine/threonine/tyrosine interacting-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305845	Styxl1	serine/threonine/tyrosine interacting-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305846	Hjurp	Holliday junction recognition protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305846	Hjurp	Holliday junction recognition protein	gene	DOID:0080600	COVID-19		ISO	RGD:2292108	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305846	Hjurp	Holliday junction recognition protein	gene	DOID:10534	stomach cancer		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305846	Hjurp	Holliday junction recognition protein	gene	DOID:1324	lung cancer		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305846	Hjurp	Holliday junction recognition protein	gene	DOID:1909	melanoma		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305846	Hjurp	Holliday junction recognition protein	gene	DOID:4362	cervical cancer		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305846	Hjurp	Holliday junction recognition protein	gene	DOID:5041	esophageal cancer		ISO	RGD:2292108	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305846	Hjurp	Holliday junction recognition protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305846	Hjurp	Holliday junction recognition protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305846	Hjurp	Holliday junction recognition protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2292108	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1305846	Hjurp	Holliday junction recognition protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305846	Hjurp	Holliday junction recognition protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305847	Spopl	speckle type BTB/POZ protein like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305847	Spopl	speckle type BTB/POZ protein like	gene	DOID:10534	stomach cancer		ISO	RGD:1605812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305847	Spopl	speckle type BTB/POZ protein like	gene	DOID:1115	sarcoma		ISO	RGD:1605812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305847	Spopl	speckle type BTB/POZ protein like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305847	Spopl	speckle type BTB/POZ protein like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305847	Spopl	speckle type BTB/POZ protein like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605812	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305847	Spopl	speckle type BTB/POZ protein like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305847	Spopl	speckle type BTB/POZ protein like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1305847	Spopl	speckle type BTB/POZ protein like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:1314126	D	RGD:11049173|PMID:25107436	20160405	RGD		mRNA:decreased expression:colonic mucosa (human)	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:10325	silicosis		IEP		D	RGD:4893904|PMID:18685790	20160824	RGD		mRNA:altered expression:lung (rat)	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1314126	D	RGD:11049176|PMID:19332774	20160405	RGD		protein:increased expression:nevus (human)	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1314126	D	RGD:11049179|PMID:21136934	20160405	RGD		protein:increased expression:breast (human)	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:418	systemic scleroderma		ISO	RGD:1314126	D	RGD:11049167|PMID:17722226	20160405	RGD		protein:increased expression:saliva (human)	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1314126	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:1314126	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:18836448
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305848	Arpc2	actin related protein 2/3 complex, subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:1115	sarcoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1314128	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:1909	melanoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:3275	thymoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1314128	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314128	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:5408	Paget disease of bone		ISO	RGD:1314128	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21623375
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305849	Rin3	Ras and Rab interactor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305851	Tex261	testis expressed 261	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305851	Tex261	testis expressed 261	gene	DOID:10534	stomach cancer		ISO	RGD:1346300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305851	Tex261	testis expressed 261	gene	DOID:1324	lung cancer		ISO	RGD:1346300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305851	Tex261	testis expressed 261	gene	DOID:1909	melanoma		ISO	RGD:1346300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305851	Tex261	testis expressed 261	gene	DOID:4362	cervical cancer		ISO	RGD:1346300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305851	Tex261	testis expressed 261	gene	DOID:5041	esophageal cancer		ISO	RGD:1346300	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305851	Tex261	testis expressed 261	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305851	Tex261	testis expressed 261	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305851	Tex261	testis expressed 261	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:11554173	20170822	CTD		CTD Direct Evidence: marker/mechanism	
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:11667969|PMID:20236121	20170119	RGD		DNA:missense mutation:exon:p.M1V (c.1A>G) (human)	
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:34008892|PMID:34653404
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404|PMID:35239206|PMID:36522254
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:35239206|PMID:35741838|PMID:36522254|PMID:6368217
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:6368217
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:6368217
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37526466|PMID:6368217
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:6368217
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:38374194|PMID:6368217
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:38374194|PMID:39326416|PMID:6368217
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19556129|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:38374194|PMID:39326416|PMID:6368217
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19556129|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21270786|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:27981572|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:33513091|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:38374194|PMID:39326416|PMID:6368217
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17446099|PMID:17554798|PMID:17559086|PMID:18060779|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18691338|PMID:18752264|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20236121|PMID:20623375|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22983245|PMID:23576288|PMID:23591631|PMID:23757202|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27363342|PMID:27439679|PMID:27671536|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:30003095|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:32342672|PMID:32351701|PMID:32429923|PMID:32576226|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:33513091|PMID:34008892|PMID:34509255|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35557983|PMID:35741838|PMID:37273706|PMID:37516995|PMID:37526466|PMID:37730220|PMID:38127101|PMID:38374194|PMID:39326416|PMID:39678382|PMID:41315541
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15833426|PMID:15883334|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:17336067|PMID:17446099|PMID:17554798|PMID:17994539|PMID:18414213|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19955119|PMID:20236121|PMID:20623375|PMID:21293871|PMID:21886772|PMID:22323514|PMID:22451200|PMID:22983245|PMID:23420653|PMID:23591631|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:25135358|PMID:25741868|PMID:25802880|PMID:25987458|PMID:26320847|PMID:26436962|PMID:26467025|PMID:26923585|PMID:27363342|PMID:27439679|PMID:27671536|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:29065428|PMID:30003095|PMID:30107846|PMID:30210031|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31671740|PMID:31931849|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32429923|PMID:32576226|PMID:32864802|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:33513091|PMID:34426522|PMID:34440373|PMID:34509255|PMID:34653404|PMID:35741838|PMID:37154180|PMID:37516995|PMID:37526466|PMID:37730220|PMID:38374194|PMID:38406381|PMID:39326416|PMID:39408683|PMID:39678382|PMID:41315541
1305852	Fkrp	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15574464|PMID:15833426|PMID:15883334|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:17336067|PMID:17446099|PMID:17554798|PMID:17559086|PMID:18414213|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:19244252|PMID:19299310|PMID:19955119|PMID:20236121|PMID:20623375|PMID:21293871|PMID:21816046|PMID:21886772|PMID:22983245|PMID:23420653|PMID:23591631|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24556424|PMID:25135358|PMID:25741868|PMID:25802880|PMID:25987458|PMID:26320847|PMID:26436962|PMID:26467025|PMID:26923585|PMID:26990548|PMID:27363342|PMID:27439679|PMID:27671536|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:30003095|PMID:30107846|PMID:30210031|PMID:30919934|PMID:31268217|PMID:32342672|PMID:32351701|PMID:32429923|PMID:32576226|PMID:32864802|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:33513091|PMID:34440373|PMID:34509255|PMID:34935411|PMID:35741838|PMID:37154180|PMID:37516995|PMID:37526466|PMID:37730220|PMID:38374194|PMID:38406381|PMID:39326416|PMID:39678382|PMID:41315541
1305852	Fkrp	fukutin related protein	gene	DOID:0050588	muscular dystrophy-dystroglycanopathy type B1		ISS	RGD:1314134	D	RGD:13592920	20220602	MouseDO		OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094	
1305852	Fkrp	fukutin related protein	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:16368217|PMID:21816046|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:28492532
1305852	Fkrp	fukutin related protein	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11741828|PMID:16344347|PMID:16368217|PMID:16717227|PMID:17994539|PMID:18832576|PMID:21816046|PMID:22451200|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27884173|PMID:28482373|PMID:28492532|PMID:28688748|PMID:32403337|PMID:37154180
1305852	Fkrp	fukutin related protein	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:16368217|PMID:21816046|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26923585|PMID:26990548|PMID:28492532
1305852	Fkrp	fukutin related protein	gene	DOID:0060260	ptosis		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532
1305852	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31268217|PMID:32419263|PMID:32746448|PMID:34008892|PMID:34653404
1305852	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive	PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34653404
1305852	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive	PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34653404
1305852	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive	PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34440373|PMID:34653404|PMID:35239206
1305852	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive	PMID:10838249|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19155270|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34440373|PMID:34653404|PMID:35239206
1305852	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive	PMID:10838249|PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18160674|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19155270|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:27302555|PMID:27439679|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:33200426|PMID:34008892|PMID:34440373|PMID:34653404|PMID:35239206
1305852	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive	PMID:10838249|PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18160674|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19155270|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:27302555|PMID:27439679|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30232282|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32914449|PMID:33200426|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34653404|PMID:35239206
1305852	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:10838249|PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19155270|PMID:19299310|PMID:19556129|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21296577|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24447024|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:27302555|PMID:27439679|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30232282|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32914449|PMID:33200426|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34653404|PMID:35239206|PMID:36522254|PMID:39326416
1305852	Fkrp	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:16368217|PMID:16634037|PMID:21970816|PMID:25741868|PMID:28492532|PMID:28688748|PMID:29101272|PMID:37516995|PMID:38374194|PMID:41315541
1305852	Fkrp	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I		ISO	RGD:1314133	D	RGD:11063285|PMID:17994539	20170119	RGD		DNA:deletion, missense mutations:exon:p.L319R (c.956T>G), p.P442L (c.1325C>T), c.1136delG (human)	
1305852	Fkrp	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I		ISO	RGD:1314133	D	RGD:11667963|PMID:18671187	20170119	RGD		DNA:missense mutations: :1364C>A, 1486T>A (human)	
1305852	Fkrp	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I		ISO	RGD:1314133	D	RGD:11667964|PMID:21296577	20170119	RGD		DNA:missense mutations:exon:p.F70I (c.208T>A), p.G344C (c.1030G>T) (human)	
1305852	Fkrp	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I		ISO	RGD:1314133	D	RGD:11667965|PMID:16634037	20170119	RGD		DNA:duplications, missense mutations:exon:multiple	
1305852	Fkrp	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I		ISO	RGD:1314133	D	RGD:11667966|PMID:17113772	20170119	RGD		DNA:missense mutation: :pP89A (human)	
1305852	Fkrp	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I		ISO	RGD:1314133	D	RGD:11667967|PMID:15580560	20170119	RGD		DNA:missense mutation:exon:p.L276I (826C>A) (human)	
1305852	Fkrp	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I		ISO	RGD:1314133	D	RGD:1598944|PMID:11741828	20070104	RGD		DNA:deletion, missense mutations, nonsense mutation: :multiple	
1305852	Fkrp	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I		ISO	RGD:1314133	D	RGD:7240710	20130221	OMIM			
1305852	Fkrp	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy type 2I | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED	PMID:10838249|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15883334|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:17113772|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:18036232|PMID:18160674|PMID:18414213|PMID:18639457|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19556129|PMID:19833706|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20675713|PMID:21296577|PMID:21816046|PMID:22983245|PMID:23420653|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24556424|PMID:25135358|PMID:25252238|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26436962|PMID:26467025|PMID:26923585|PMID:26990548|PMID:27142102|PMID:27439679|PMID:27627455|PMID:27711214|PMID:27854218|PMID:27884173|PMID:28454995|PMID:28492532|PMID:28569743|PMID:2868874|PMID:28688748|PMID:28931339|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31069529|PMID:31268217|PMID:31638414|PMID:32115343|PMID:32153140|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32864802|PMID:33051673|PMID:33146414|PMID:33200426|PMID:33513091|PMID:33961310|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34935411|PMID:34958143|PMID:35239206|PMID:36399172|PMID:36522254|PMID:36575883|PMID:37688281|PMID:37927270|PMID:37974208|PMID:38406381|PMID:39678382|PMID:39891418|PMID:6368217
1305852	Fkrp	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I		ISS	RGD:1314134	D	RGD:13592920	20230718	MouseDO		OMIM:607155	
1305852	Fkrp	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I	treatment	ISO	RGD:1314133	D	RGD:11667961|PMID:25048216	20170119	RGD			
1305852	Fkrp	fukutin related protein	gene	DOID:0110635	muscular dystrophy-dystroglycanopathy type B5		ISO	RGD:1314133	D	RGD:1358626|PMID:14652796	20150304	RGD		DNA:missense mutations: :p.A455D, p.V405L (human)	
1305852	Fkrp	fukutin related protein	gene	DOID:0110635	muscular dystrophy-dystroglycanopathy type B5		ISO	RGD:1314133	D	RGD:7240710	20130221	OMIM			
1305852	Fkrp	fukutin related protein	gene	DOID:0110635	muscular dystrophy-dystroglycanopathy type B5		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B5	PMID:11592034|PMID:12707439|PMID:14652796|PMID:15060126|PMID:15574464|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:17559086|PMID:18414213|PMID:18671187|PMID:18752264|PMID:19244252|PMID:19955119|PMID:20961759|PMID:21816046|PMID:23420653|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24556424|PMID:25741868|PMID:25802880|PMID:26467025|PMID:26923585|PMID:26990548|PMID:27854218|PMID:27884173|PMID:28454995|PMID:28492532|PMID:28569743|PMID:31268217|PMID:33513091|PMID:34440373|PMID:34935411|PMID:36522254|PMID:38406381
1305852	Fkrp	fukutin related protein	gene	DOID:0110635	muscular dystrophy-dystroglycanopathy type B5		ISS	RGD:1314134	D	RGD:13592920	20230718	MouseDO		OMIM:606612	
1305852	Fkrp	fukutin related protein	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
1305852	Fkrp	fukutin related protein	gene	DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	PMID:14652796|PMID:16368217|PMID:18414213|PMID:21816046|PMID:24033266|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26923585|PMID:26990548|PMID:28492532|PMID:34935411
1305852	Fkrp	fukutin related protein	gene	DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5		ISO	RGD:1314133	D	RGD:7240710	20130221	OMIM			
1305852	Fkrp	fukutin related protein	gene	DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED	PMID:11592034|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15574464|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:17559086|PMID:18414213|PMID:18639457|PMID:18671187|PMID:18752264|PMID:19244252|PMID:19299310|PMID:19955119|PMID:21816046|PMID:23420653|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24556424|PMID:25741868|PMID:25802880|PMID:26436962|PMID:26467025|PMID:26923585|PMID:26990548|PMID:27854218|PMID:27884173|PMID:28454995|PMID:28492532|PMID:28569743|PMID:28688748|PMID:33513091|PMID:34440373|PMID:34935411|PMID:38406381
1305852	Fkrp	fukutin related protein	gene	DOID:11155	hypohidrosis		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:28492532
1305852	Fkrp	fukutin related protein	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:11667959|PMID:14523375	20170119	RGD		DNA:missense mutation:exon:p.R54W (160C>T) (human)	
1305852	Fkrp	fukutin related protein	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:11592034|PMID:12707439|PMID:15060126|PMID:16344347|PMID:16476814|PMID:17559086|PMID:18752264|PMID:23757202|PMID:25741868|PMID:26467025|PMID:27854218|PMID:27884173|PMID:28492532
1305852	Fkrp	fukutin related protein	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:16368217|PMID:21816046|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26923585|PMID:26990548|PMID:28492532
1305852	Fkrp	fukutin related protein	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314133	D	RGD:11667064|PMID:15833432	20170111	RGD		DNA:missense mutation:exon:p.L276I (826C>A) (human)	
1305852	Fkrp	fukutin related protein	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11741828|PMID:16344347|PMID:16717227|PMID:17994539|PMID:18832576|PMID:22451200|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28482373|PMID:28492532|PMID:28688748|PMID:32403337|PMID:37154180
1305852	Fkrp	fukutin related protein	gene	DOID:1826	epilepsy		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743
1305852	Fkrp	fukutin related protein	gene	DOID:2841	asthma		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1305852	Fkrp	fukutin related protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305852	Fkrp	fukutin related protein	gene	DOID:9000590	Dyspnea		ISO	RGD:1314133	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: marker/mechanism	PMID:29571322
1305852	Fkrp	fukutin related protein	gene	DOID:9000887	Muscular Dystrophy, Animal		ISO	RGD:1314134	D	RGD:11667960|PMID:20675713	20170119	RGD		DNA:missense mutation:exon:p.P448L (1343C>T) (mouse)	
1305852	Fkrp	fukutin related protein	gene	DOID:9000887	Muscular Dystrophy, Animal		ISO	RGD:1314134	D	RGD:11667970|PMID:21224063	20170119	RGD			
1305852	Fkrp	fukutin related protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1305852	Fkrp	fukutin related protein	gene	DOID:9003717	nonischemic cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonischemic cardiomyopathy	PMID:24139536|PMID:25741868|PMID:28492532|PMID:33513091
1305852	Fkrp	fukutin related protein	gene	DOID:9005077	Joint Instability		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743
1305852	Fkrp	fukutin related protein	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1314133	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: marker/mechanism	PMID:29571322
1305852	Fkrp	fukutin related protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314133	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743
1305852	Fkrp	fukutin related protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1305852	Fkrp	fukutin related protein	gene	DOID:9008023	Memory Disorders		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1305852	Fkrp	fukutin related protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314133	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743
1305852	Fkrp	fukutin related protein	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
1305852	Fkrp	fukutin related protein	gene	DOID:9884	muscular dystrophy		ISO	RGD:1314133	D	RGD:11064865|PMID:11592034	20170109	RGD		DNA:missense mutations, nonsense mutations:exon:multiple	
1305852	Fkrp	fukutin related protein	gene	DOID:9884	muscular dystrophy		ISO	RGD:1314133	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: marker/mechanism	PMID:29571322
1305852	Fkrp	fukutin related protein	gene	DOID:9884	muscular dystrophy		ISS	RGD:1314134	D	RGD:13592920	20180518	MouseDO		OMIM:158800 | OMIM:159050 | OMIM:309930 | OMIM:309950 | OMIM:310000 | OMIM:310095 | OMIM:600416	
1305854	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1605697	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305854	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:1115	sarcoma		ISO	RGD:1605697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305854	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1605697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305854	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305854	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1605697	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305854	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305854	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305854	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305854	Dbf4	DBF4-CDC7 kinase regulatory subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1605697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:0070165	spermatogenic failure 18		ISO	RGD:1314138	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 18	PMID:32017041
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:10283	prostate cancer		ISO	RGD:1314138	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:10283	prostate cancer		ISO	RGD:1314138	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:10534	stomach cancer		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:1059	intellectual disability		ISO	RGD:1314138	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:1115	sarcoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:1324	lung cancer		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:1909	melanoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314138	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:9003566	Mesothelioma		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305855	Dnah3	dynein, axonemal, heavy chain 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305857	Syde1	synapse defective Rho GTPase activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305857	Syde1	synapse defective Rho GTPase activating protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305857	Syde1	synapse defective Rho GTPase activating protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1602201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305858	Cdc42ep3	CDC42 effector protein 3	gene	DOID:0060058	lymphoma		ISO	RGD:1314141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305858	Cdc42ep3	CDC42 effector protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1314141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305858	Cdc42ep3	CDC42 effector protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314141	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305858	Cdc42ep3	CDC42 effector protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305858	Cdc42ep3	CDC42 effector protein 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314141	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305859	Elf5	E74 like ETS transcription factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305859	Elf5	E74 like ETS transcription factor 5	gene	DOID:10534	stomach cancer		ISO	RGD:1314143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305859	Elf5	E74 like ETS transcription factor 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305860	Cd320	CD320 molecule	gene	DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect		ISO	RGD:1352822	D	RGD:7240710	20130221	OMIM			
1305860	Cd320	CD320 molecule	gene	DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect		ISO	RGD:1352822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT | ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1305860	Cd320	CD320 molecule	gene	DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect		ISS	RGD:1552632	D	RGD:13592920	20230718	MouseDO		OMIM:613646	
1305860	Cd320	CD320 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1352822	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305860	Cd320	CD320 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305861	Hnrnpll	heterogeneous nuclear ribonucleoprotein L-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353271	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305861	Hnrnpll	heterogeneous nuclear ribonucleoprotein L-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305861	Hnrnpll	heterogeneous nuclear ribonucleoprotein L-like	gene	DOID:1115	sarcoma		ISO	RGD:1353271	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305861	Hnrnpll	heterogeneous nuclear ribonucleoprotein L-like	gene	DOID:1324	lung cancer		ISO	RGD:1353271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305861	Hnrnpll	heterogeneous nuclear ribonucleoprotein L-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305861	Hnrnpll	heterogeneous nuclear ribonucleoprotein L-like	gene	DOID:2394	ovarian cancer		ISO	RGD:1353271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305861	Hnrnpll	heterogeneous nuclear ribonucleoprotein L-like	gene	DOID:4362	cervical cancer		ISO	RGD:1353271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305861	Hnrnpll	heterogeneous nuclear ribonucleoprotein L-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305861	Hnrnpll	heterogeneous nuclear ribonucleoprotein L-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305861	Hnrnpll	heterogeneous nuclear ribonucleoprotein L-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:0060058	lymphoma		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:0061176	developmental and epileptic encephalopathy 118		ISO	RGD:1314147	D	RGD:7240710	20250903	OMIM			
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:0061176	developmental and epileptic encephalopathy 118		ISO	RGD:1314147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 118 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 118	PMID:25741868|PMID:28135719|PMID:37421948|PMID:38041506
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:10534	stomach cancer		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:1059	intellectual disability		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:1115	sarcoma		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:11162	respiratory failure		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:1324	lung cancer		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:1826	epilepsy		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:3070	high grade glioma		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:3275	thymoma		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:25741868
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:4362	cervical cancer		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314147	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:6039	uveal melanoma		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:630	genetic disease		ISO	RGD:1314147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:37421948|PMID:38041506
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1305862	Tmem63b	transmembrane protein 63B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305863	Klhl21	kelch-like family member 21	gene	DOID:10534	stomach cancer		ISO	RGD:1351698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305863	Klhl21	kelch-like family member 21	gene	DOID:1324	lung cancer		ISO	RGD:1351698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305863	Klhl21	kelch-like family member 21	gene	DOID:4362	cervical cancer		ISO	RGD:1351698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305863	Klhl21	kelch-like family member 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305863	Klhl21	kelch-like family member 21	gene	DOID:9005834	Ependymomas		ISO	RGD:1351698	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1305864	Stk32c	serine/threonine kinase 32C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305864	Stk32c	serine/threonine kinase 32C	gene	DOID:1115	sarcoma		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305864	Stk32c	serine/threonine kinase 32C	gene	DOID:1324	lung cancer		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305864	Stk32c	serine/threonine kinase 32C	gene	DOID:3275	thymoma		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305864	Stk32c	serine/threonine kinase 32C	gene	DOID:5041	esophageal cancer		ISO	RGD:1314150	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305864	Stk32c	serine/threonine kinase 32C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305864	Stk32c	serine/threonine kinase 32C	gene	DOID:6039	uveal melanoma		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305864	Stk32c	serine/threonine kinase 32C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305864	Stk32c	serine/threonine kinase 32C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305865	Zfp451	zinc finger protein 451	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305865	Zfp451	zinc finger protein 451	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305865	Zfp451	zinc finger protein 451	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:0110055	amelogenesis imperfecta type 3A		ISO	RGD:1603342	D	RGD:11554173	20250204	CTD		CTD Direct Evidence: marker/mechanism	
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:0110055	amelogenesis imperfecta type 3A		ISO	RGD:1603342	D	RGD:7240710	20130221	OMIM			
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:0110055	amelogenesis imperfecta type 3A		ISO	RGD:1603342	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A | ClinVar Annotator: match by term: FAM83H-related condition	PMID:19407157|PMID:25741868|PMID:28492532|PMID:33009625|PMID:33034243
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:0110059	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2		ISO	RGD:1603342	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2	
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:1324	lung cancer		ISO	RGD:1603342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1603342	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18484629|PMID:19407157
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:2394	ovarian cancer		ISO	RGD:1603342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:4362	cervical cancer		ISO	RGD:1603342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:630	genetic disease		ISO	RGD:1603342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:9001593	Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis		ISO	RGD:12270513	D	RGD:9068941	20250717	OMIA		Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis	PMID:16961470|PMID:22212237|PMID:22253609|PMID:22339941|PMID:29284193|PMID:30650096|PMID:34861369
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1603342	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305866	Sack1h	scaffolding CK1 anchoring protein H	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1603342	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19407157
1305867	Snph	syntaphilin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305867	Snph	syntaphilin	gene	DOID:10534	stomach cancer		ISO	RGD:1314155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305867	Snph	syntaphilin	gene	DOID:1324	lung cancer		ISO	RGD:1314155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305867	Snph	syntaphilin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305867	Snph	syntaphilin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305867	Snph	syntaphilin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305868	Adgrf3	adhesion G protein-coupled receptor F3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305868	Adgrf3	adhesion G protein-coupled receptor F3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305868	Adgrf3	adhesion G protein-coupled receptor F3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305868	Adgrf3	adhesion G protein-coupled receptor F3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305868	Adgrf3	adhesion G protein-coupled receptor F3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305868	Adgrf3	adhesion G protein-coupled receptor F3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1344717	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability | ClinVar Annotator: match by term: syndromic intellectual disability	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344717	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0060157	diffuse alopecia areata		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patchy alopecia	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0060249	scoliosis		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:26647312|PMID:28100473|PMID:29453417
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0070309	absence epilepsy		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:29453417
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0080893	Bainbridge-Ropers syndrome		ISO	RGD:1344717	D	RGD:7240710	20150701	OMIM			
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0080893	Bainbridge-Ropers syndrome		ISO	RGD:1344717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ASXL3-related condition | ClinVar Annotator: match by term: ASXL3-related disorder | ClinVar Annotator: match by term: BAINBRIDGE-ROPERS SYNDROME | ClinVar Annotator: match by term: Bainbridge-Ropers syndrome	PMID:23383720|PMID:25590979|PMID:25741868|PMID:26539891|PMID:26633542|PMID:26640146|PMID:26647312|PMID:27075689|PMID:28100473|PMID:28492532|PMID:29429203|PMID:29628764|PMID:30564305|PMID:31785789|PMID:32581362|PMID:33004838|PMID:33751773|PMID:34436830|PMID:36368308
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1344717	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192917
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1344717	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Long eyelashes	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1059	intellectual disability		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual deficiency | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability (moderate) | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:29628764
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1059	intellectual disability		ISO	RGD:1344717	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual deficiency | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability (moderate) | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:26647312|PMID:28100473|PMID:29628764|PMID:31180560
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:10604	lactose intolerance		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactose intolerance	PMID:25741868|PMID:32581362
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:10608	celiac disease		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Celiac disease	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1074	kidney failure		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:10754	otitis media		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:10907	microcephaly		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25131622|PMID:25741868|PMID:29453417
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:11476	osteoporosis		ISO	RGD:1344717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:25741868|PMID:27901041|PMID:28492532|PMID:29305346|PMID:29367179|PMID:33751541|PMID:38420660
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:11714	gestational diabetes		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:11782	astigmatism		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:29453417
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:11830	myopia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:29453417|PMID:32581362
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1205	allergic disease		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:25741868|PMID:32581362
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:12215	oligohydramnios		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1283	enterocele		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:12849	autistic disorder		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: autism	PMID:25741868|PMID:28492532|PMID:29453417|PMID:32581362
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:13250	diarrhea		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:13620	patent foramen ovale		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1826	epilepsy		ISO	RGD:1344717	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1826	epilepsy		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:29453417|PMID:32581362
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:1969	cerebral palsy		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:29453417
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:32581362
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:2340	craniosynostosis		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:255	hemangioma		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:327	syringomyelia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syringomyelia	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:3326	purpura		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Petechiae	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:3627	aortic aneurysm		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:4481	allergic rhinitis		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:535	sleep disorder		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:32581362|PMID:37541188
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:540	strabismus		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:552	pneumonia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868|PMID:29453417
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:57	aortic valve insufficiency		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic regurgitation	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:630	genetic disease		ISO	RGD:1344717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26647312|PMID:28100473|PMID:28492532|PMID:32581362|PMID:34436830|PMID:37541188
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:674	cleft palate		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:8488	polyhydramnios		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:29453417|PMID:32581362
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:8927	learning disability		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9000052	Breech Presentation		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breech presentation	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9001031	Retrognathia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:29453417|PMID:32581362
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9001510	Funnel Chest		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9001581	Constipation		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:23383720|PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:32581362
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9003507	Premature Birth		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9004108	Fused Kidney		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344717	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889|PMID:29942082
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9004507	Hirsutism		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9004866	Ataxia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9005077	Joint Instability		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:26647312|PMID:28100473|PMID:29453417|PMID:32581362|PMID:34436830
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9005616	Micrognathism		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9005721	Preeclamptic Toxemia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Toxemia of pregnancy	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1344717	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:25741868|PMID:26647312|PMID:28100473
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9007573	Flatfoot		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:32581362
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9007738	Broca Aphasia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive aphasia	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25131622|PMID:25741868|PMID:32581362|PMID:34436830|PMID:37541188
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9008189	Pyelectasis		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9008805	Overbite		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overbite	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9008879	Self Mutilation		ISO	RGD:1344717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Self-mutilation	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9307	rectal prolapse		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rectal prolapse	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9834	hyperopia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:32581362
1305869	Asxl3	ASXL transcriptional regulator 3	gene	DOID:9840	esotropia		ISO	RGD:1344717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
1305870	Pcdh18	protocadherin 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305870	Pcdh18	protocadherin 18	gene	DOID:10534	stomach cancer		ISO	RGD:1314160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305870	Pcdh18	protocadherin 18	gene	DOID:1115	sarcoma		ISO	RGD:1314160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305870	Pcdh18	protocadherin 18	gene	DOID:1909	melanoma		ISO	RGD:1314160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305870	Pcdh18	protocadherin 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305870	Pcdh18	protocadherin 18	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305871	Tnfsf13	TNF superfamily member 13	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1314162	D	RGD:1549466|PMID:15488762	20150205	RGD			
1305871	Tnfsf13	TNF superfamily member 13	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1314162	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22197929
1305871	Tnfsf13	TNF superfamily member 13	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1314162	D	RGD:1549466|PMID:15488762	20150205	RGD		protein:increased expression:serum	
1305871	Tnfsf13	TNF superfamily member 13	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1314162	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1305871	Tnfsf13	TNF superfamily member 13	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1314162	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18423122
1305872	Naalad2	N-acetylated alpha-linked acidic dipeptidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305872	Naalad2	N-acetylated alpha-linked acidic dipeptidase 2	gene	DOID:1115	sarcoma		ISO	RGD:1314164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305872	Naalad2	N-acetylated alpha-linked acidic dipeptidase 2	gene	DOID:1324	lung cancer		ISO	RGD:1314164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305872	Naalad2	N-acetylated alpha-linked acidic dipeptidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305872	Naalad2	N-acetylated alpha-linked acidic dipeptidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305872	Naalad2	N-acetylated alpha-linked acidic dipeptidase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:0060321	umbilical hernia		ISO	RGD:1314166	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:630	genetic disease		ISO	RGD:1314166	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:9001912	Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis		ISO	RGD:1314166	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:9001912	Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis		ISO	RGD:1314166	D	RGD:7240710	20130221	OMIM			
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:9001912	Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis		ISO	RGD:1314166	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MACS SYNDROME | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS	PMID:19631308|PMID:24449201|PMID:25741868|PMID:27277385|PMID:28492532
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1314166	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305873	Rin2	Ras and Rab interactor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1314166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305874	Hdac10	histone deacetylase 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305874	Hdac10	histone deacetylase 10	gene	DOID:10534	stomach cancer		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305874	Hdac10	histone deacetylase 10	gene	DOID:1115	sarcoma		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305874	Hdac10	histone deacetylase 10	gene	DOID:1324	lung cancer		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305874	Hdac10	histone deacetylase 10	gene	DOID:1909	melanoma		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305874	Hdac10	histone deacetylase 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305874	Hdac10	histone deacetylase 10	gene	DOID:3275	thymoma		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305874	Hdac10	histone deacetylase 10	gene	DOID:4362	cervical cancer		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305874	Hdac10	histone deacetylase 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1314168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305874	Hdac10	histone deacetylase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305874	Hdac10	histone deacetylase 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305874	Hdac10	histone deacetylase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305874	Hdac10	histone deacetylase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305874	Hdac10	histone deacetylase 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305875	Med28	mediator complex subunit 28	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305875	Med28	mediator complex subunit 28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305875	Med28	mediator complex subunit 28	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1354293	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868
1305875	Med28	mediator complex subunit 28	gene	DOID:2394	ovarian cancer		ISO	RGD:1354293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
1305875	Med28	mediator complex subunit 28	gene	DOID:4362	cervical cancer		ISO	RGD:1354293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305875	Med28	mediator complex subunit 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305875	Med28	mediator complex subunit 28	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305875	Med28	mediator complex subunit 28	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1354293	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21942447
1305875	Med28	mediator complex subunit 28	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1354293	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21942447
1305876	Sirt7	sirtuin 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305876	Sirt7	sirtuin 7	gene	DOID:10534	stomach cancer		ISO	RGD:1314170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305876	Sirt7	sirtuin 7	gene	DOID:1324	lung cancer		ISO	RGD:1314170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305876	Sirt7	sirtuin 7	gene	DOID:418	systemic scleroderma		ISO	RGD:1314170	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25707573
1305876	Sirt7	sirtuin 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1314170	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305876	Sirt7	sirtuin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305876	Sirt7	sirtuin 7	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1314170	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: therapeutic	PMID:28675767
1305876	Sirt7	sirtuin 7	gene	DOID:9452	steatotic liver disease		ISO	RGD:1314170	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24210820
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:0111402	mucopolysaccharidosis type IIID		ISO	RGD:1314172	D	RGD:7240710	20191106	OMIM			
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:0111402	mucopolysaccharidosis type IIID		ISO	RGD:1314172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIID | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D | ClinVar Annotator: match by term: N-acetylglucosamine-6-sulfate sulfatase deficiency	PMID:12573255|PMID:16199547|PMID:16990043|PMID:17576681|PMID:17998446|PMID:19763152|PMID:20232353|PMID:20307669|PMID:22406018|PMID:25640679|PMID:25741868|PMID:27512882|PMID:28492532|PMID:31536183|PMID:34349725|PMID:34743503|PMID:9536098
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1314172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:3391615
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1314172	D	RGD:1599248|PMID:12573255	20070122	RGD		mucopolysaccharidosis type IIID (OMIM:252940)	
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1314172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sanfilippo disease | ClinVar Annotator: match by term: Sanfilippo syndrome	PMID:12573255|PMID:16199547|PMID:17576681|PMID:20232353|PMID:25741868|PMID:28492532|PMID:9536098
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:12801	mucopolysaccharidosis III		ISS	RGD:1314173	D	RGD:13592920	20230718	MouseDO		OMIM:252940	
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:3275	thymoma		ISO	RGD:1314172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:4362	cervical cancer		ISO	RGD:1314172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:630	genetic disease		ISO	RGD:1314172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:35982159
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305877	Gns	glucosamine (N-acetyl)-6-sulfatase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305878	Gtpbp10	GTP binding protein 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:36947605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305878	Gtpbp10	GTP binding protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:36947605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305878	Gtpbp10	GTP binding protein 10	gene	DOID:1324	lung cancer		ISO	RGD:36947605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305878	Gtpbp10	GTP binding protein 10	gene	DOID:3275	thymoma		ISO	RGD:36947605	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305878	Gtpbp10	GTP binding protein 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:36947605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305878	Gtpbp10	GTP binding protein 10	gene	DOID:4362	cervical cancer		ISO	RGD:36947605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305878	Gtpbp10	GTP binding protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:36947605	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305878	Gtpbp10	GTP binding protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:36947605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305878	Gtpbp10	GTP binding protein 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:36947605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305878	Gtpbp10	GTP binding protein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:36947605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305878	Gtpbp10	GTP binding protein 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:36947605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305878	Gtpbp10	GTP binding protein 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:36947605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:0050868	hepatocellular adenoma		IEP		D	RGD:9586718|PMID:23912631	20141002	RGD		mRNA,protein:increased expression:liver:	
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:0060075	estrogen receptor-positive breast cancer	disease_progression	ISO	RGD:1314176	D	RGD:9586721|PMID:23887673	20141002	RGD		protein:increased expression:breast:	
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:0080016	spina bifida		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida	PMID:25741868
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:11836	clubfoot		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:2841	asthma		IEP		D	RGD:9491823|PMID:20423833	20140912	RGD		mRNA:decreased expression:lung	
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:684	hepatocellular carcinoma		IEP		D	RGD:9586718|PMID:23912631	20141002	RGD		mRNA,protein:increased expression:liver:	
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1314176	D	RGD:2293206|PMID:15221992	20080521	RGD		protein:increased expression:prostate gland	
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:8893	psoriasis		ISO	RGD:1314176	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143594
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314176	D	RGD:2293206|PMID:15221992	20080521	RGD		protein:increased expression:prostate gland	
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314176	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes calcaneovalgus	PMID:25741868
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305879	Carm1	coactivator-associated arginine methyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305881	Cmpk2	cytidine/uridine monophosphate kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305881	Cmpk2	cytidine/uridine monophosphate kinase 2	gene	DOID:2377	multiple sclerosis		ISO	RGD:1602074	D	RGD:5133255|PMID:20136355	20110609	RGD		mRNA:altered expression:PMN cell (human)	
1305881	Cmpk2	cytidine/uridine monophosphate kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1602074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305881	Cmpk2	cytidine/uridine monophosphate kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305881	Cmpk2	cytidine/uridine monophosphate kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602074	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305881	Cmpk2	cytidine/uridine monophosphate kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305881	Cmpk2	cytidine/uridine monophosphate kinase 2	gene	DOID:9009265	Idiopathic Basal Ganglia Calcification 10		ISO	RGD:1602074	D	RGD:7240710	20241218	OMIM			
1305881	Cmpk2	cytidine/uridine monophosphate kinase 2	gene	DOID:9009265	Idiopathic Basal Ganglia Calcification 10		ISO	RGD:1602074	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 10, autosomal recessive	PMID:25741868
1305881	Cmpk2	cytidine/uridine monophosphate kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:10534	stomach cancer		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:1115	sarcoma		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:1324	lung cancer		ISO	RGD:1314180	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:1909	melanoma		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:4362	cervical cancer		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:5041	esophageal cancer		ISO	RGD:1314180	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305882	Gpr107	G protein-coupled receptor 107	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305883	Pcnx2	pecanex 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305883	Pcnx2	pecanex 2	gene	DOID:0060058	lymphoma		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305883	Pcnx2	pecanex 2	gene	DOID:1059	intellectual disability		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	
1305883	Pcnx2	pecanex 2	gene	DOID:1115	sarcoma		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305883	Pcnx2	pecanex 2	gene	DOID:1324	lung cancer		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305883	Pcnx2	pecanex 2	gene	DOID:1909	melanoma		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305883	Pcnx2	pecanex 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1605048	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305883	Pcnx2	pecanex 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305883	Pcnx2	pecanex 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305883	Pcnx2	pecanex 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305883	Pcnx2	pecanex 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605048	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305883	Pcnx2	pecanex 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305883	Pcnx2	pecanex 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305883	Pcnx2	pecanex 2	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
1305883	Pcnx2	pecanex 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305883	Pcnx2	pecanex 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1305883	Pcnx2	pecanex 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305883	Pcnx2	pecanex 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305883	Pcnx2	pecanex 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868|PMID:29511999
1305884	Med13l	mediator complex subunit 13L	gene	DOID:0060320	inguinal hernia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:0060326	myelomeningocele		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelomeningocele	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1314183	D	RGD:1580649|PMID:14638541	19990101	RGD			
1305884	Med13l	mediator complex subunit 13L	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1314183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dextro-looped transposition of the great arteries | ClinVar Annotator: match by term: MED13L-Related Disorder | ClinVar Annotator: match by term: MED13L-related disorder	PMID:14638541|PMID:16199547|PMID:17576681|PMID:21937992|PMID:23403903|PMID:24267886|PMID:24781760|PMID:24896178|PMID:25137640|PMID:25167861|PMID:25356899|PMID:25712080|PMID:25741868|PMID:25741884|PMID:25758992|PMID:27824329|PMID:27899622|PMID:28371282|PMID:28492532|PMID:28588821|PMID:28645799|PMID:29159987|PMID:29346770|PMID:29511999|PMID:29959045|PMID:30564305|PMID:31144778|PMID:31171384|PMID:31618753|PMID:31785789|PMID:5167861|PMID:9536098
1305884	Med13l	mediator complex subunit 13L	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:29511999
1305884	Med13l	mediator complex subunit 13L	gene	DOID:0070776	impaired intellectual development and distinctive facial features with or without cardiac defects		ISO	RGD:1314183	D	RGD:7240710	20190315	OMIM			
1305884	Med13l	mediator complex subunit 13L	gene	DOID:0070776	impaired intellectual development and distinctive facial features with or without cardiac defects		ISO	RGD:1314183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac anomalies - developmental delay - facial dysmorphism syndrome | ClinVar Annotator: match by term: IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH CARDIAC DEFECTS | ClinVar Annotator: match by term: Impaired intellectual development and distinctive facial features with or without cardiac defects | ClinVar Annotator: match by term: MED13L-related condition | ClinVar Annotator: match by term: Mental retardation and distinctive facial features with or without cardiac defects	PMID:14638541|PMID:17576681|PMID:22542183|PMID:23403903|PMID:24781716|PMID:24781760|PMID:24896178|PMID:25106414|PMID:25712080|PMID:25741868|PMID:25741869|PMID:25758992|PMID:26046367|PMID:27500536|PMID:28492532|PMID:28645799|PMID:29511999|PMID:29758562|PMID:29959045|PMID:31690835|PMID:35887114|PMID:35982159|PMID:35982160|PMID:9536098
1305884	Med13l	mediator complex subunit 13L	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:0080636	syndromic microphthalmia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic microphthalmia	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:10348	blepharophimosis		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:10534	stomach cancer		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:10579	leukodystrophy		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:1059	intellectual disability		ISO	RGD:1314183	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1305884	Med13l	mediator complex subunit 13L	gene	DOID:1059	intellectual disability		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: severe intellectual disability	PMID:25167861|PMID:25741868|PMID:28492532|PMID:28554332|PMID:29511999|PMID:31785789|PMID:36368352|PMID:36798993
1305884	Med13l	mediator complex subunit 13L	gene	DOID:1059	intellectual disability		ISO	RGD:1314183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: severe intellectual disability	PMID:25167861|PMID:25741868|PMID:28492532|PMID:29511999|PMID:36368352
1305884	Med13l	mediator complex subunit 13L	gene	DOID:10754	otitis media		ISO	RGD:1314183	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:10907	microcephaly		ISO	RGD:1314183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:10908	hydrocephalus		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:11111	hydronephrosis		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:1115	sarcoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:11193	syndactyly		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:11383	cryptorchidism		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:1143	exotropia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:11836	clubfoot		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes equinovarus	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:12215	oligohydramnios		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:1283	enterocele		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:25741868|PMID:29511999
1305884	Med13l	mediator complex subunit 13L	gene	DOID:12849	autistic disorder		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:1324	lung cancer		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:13620	patent foramen ovale		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868|PMID:29511999
1305884	Med13l	mediator complex subunit 13L	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:1459	hypothyroidism		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:1826	epilepsy		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:1909	melanoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:2340	craniosynostosis		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:255	hemangioma		ISO	RGD:1314183	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25712080|PMID:25758992
1305884	Med13l	mediator complex subunit 13L	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1314183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker syndrome	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:2975	cystic kidney disease		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:3070	high grade glioma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:3312	bipolar disorder		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:420	hypertrichosis		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:5041	esophageal cancer		ISO	RGD:1314183	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1305884	Med13l	mediator complex subunit 13L	gene	DOID:535	sleep disorder		ISO	RGD:1314183	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:29511999
1305884	Med13l	mediator complex subunit 13L	gene	DOID:540	strabismus		ISO	RGD:1314183	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1305884	Med13l	mediator complex subunit 13L	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1305884	Med13l	mediator complex subunit 13L	gene	DOID:630	genetic disease		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12738880|PMID:14638541|PMID:23403903|PMID:24267886|PMID:24781760|PMID:24896178|PMID:25137640|PMID:25167861|PMID:25356899|PMID:25712080|PMID:25741868|PMID:25758992|PMID:27899622|PMID:28371282|PMID:28492532|PMID:28588821|PMID:28645799|PMID:29159987|PMID:29511999|PMID:5167861
1305884	Med13l	mediator complex subunit 13L	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9000495	Tremor		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Resting tremor	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9001510	Funnel Chest		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9001581	Constipation		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868|PMID:29511999
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9003132	Sialorrhea		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9003133	Hypertelorism		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:29511999
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9003816	Macrocephaly		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314183	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314183	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25712080|PMID:25741868|PMID:25758992|PMID:28492532|PMID:29959045
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9004798	Drug Resistant Epilepsy		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: drug-resistant epilepsy	PMID:25741868|PMID:29511999
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868|PMID:29511999
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9005077	Joint Instability		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:29511999
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9005616	Micrognathism		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1314183	D	RGD:8554872	20191015	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9007402	Gliosis		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9007661	Dwarfism		ISO	RGD:1314183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature | ClinVar Annotator: match by term: short stature	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25712080|PMID:25741868|PMID:25741884|PMID:25758992|PMID:28492532|PMID:29511999|PMID:31785789
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:936	brain disease		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1314183	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9667	placental abruption		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Placental abruption	
1305884	Med13l	mediator complex subunit 13L	gene	DOID:9840	esotropia		ISO	RGD:1314183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
1305885	Sult1c2a	sulfotransferase family 1C member 2A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314184	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1305885	Sult1c2a	sulfotransferase family 1C member 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1314184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305885	Sult1c2a	sulfotransferase family 1C member 2A	gene	DOID:1909	melanoma		ISO	RGD:1314184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305885	Sult1c2a	sulfotransferase family 1C member 2A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305885	Sult1c2a	sulfotransferase family 1C member 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1314184	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305885	Sult1c2a	sulfotransferase family 1C member 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305885	Sult1c2a	sulfotransferase family 1C member 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305886	Sh3glb2	SH3 domain-containing GRB2-like endophilin B2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305886	Sh3glb2	SH3 domain-containing GRB2-like endophilin B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305886	Sh3glb2	SH3 domain-containing GRB2-like endophilin B2	gene	DOID:1115	sarcoma		ISO	RGD:1314186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305886	Sh3glb2	SH3 domain-containing GRB2-like endophilin B2	gene	DOID:1324	lung cancer		ISO	RGD:1314186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305886	Sh3glb2	SH3 domain-containing GRB2-like endophilin B2	gene	DOID:3275	thymoma		ISO	RGD:1314186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305886	Sh3glb2	SH3 domain-containing GRB2-like endophilin B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305886	Sh3glb2	SH3 domain-containing GRB2-like endophilin B2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305886	Sh3glb2	SH3 domain-containing GRB2-like endophilin B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305886	Sh3glb2	SH3 domain-containing GRB2-like endophilin B2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305887	Tubb6	tubulin, beta 6 class V	gene	DOID:0060260	ptosis		ISO	RGD:1343714	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1305887	Tubb6	tubulin, beta 6 class V	gene	DOID:0070743	congenital facial palsy with ptosis and velopharyngeal dysfunction		ISO	RGD:1343714	D	RGD:7240710	20190315	OMIM			
1305887	Tubb6	tubulin, beta 6 class V	gene	DOID:0070743	congenital facial palsy with ptosis and velopharyngeal dysfunction		ISO	RGD:1343714	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	PMID:25741868
1305887	Tubb6	tubulin, beta 6 class V	gene	DOID:1324	lung cancer		ISO	RGD:1343714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305887	Tubb6	tubulin, beta 6 class V	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305887	Tubb6	tubulin, beta 6 class V	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343714	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305887	Tubb6	tubulin, beta 6 class V	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305888	Hs6st3	heparan sulfate 6-O-sulfotransferase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305888	Hs6st3	heparan sulfate 6-O-sulfotransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:10534	stomach cancer		ISO	RGD:1314191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:10907	microcephaly		ISO	RGD:1314191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:1115	sarcoma		ISO	RGD:1314191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:12859	choreatic disease		ISO	RGD:1314191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:1909	melanoma		ISO	RGD:1314191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:2841	asthma		ISO	RGD:1314191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:5041	esophageal cancer		ISO	RGD:1314191	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:5426	primary ovarian insufficiency		ISS	RGD:1314192	D	RGD:13592920	20210520	MouseDO			
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1314191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305889	Polr3h	RNA polymerase III subunit H	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1305890	Oaf	out at first homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305890	Oaf	out at first homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305890	Oaf	out at first homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305891	Pwwp2a	PWWP domain containing 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1642916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305891	Pwwp2a	PWWP domain containing 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1642916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305891	Pwwp2a	PWWP domain containing 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1642916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305892	Spire1	spire-type actin nucleation factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305892	Spire1	spire-type actin nucleation factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305892	Spire1	spire-type actin nucleation factor 1	gene	DOID:1909	melanoma		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305892	Spire1	spire-type actin nucleation factor 1	gene	DOID:3275	thymoma		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305892	Spire1	spire-type actin nucleation factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305892	Spire1	spire-type actin nucleation factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305892	Spire1	spire-type actin nucleation factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305892	Spire1	spire-type actin nucleation factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305892	Spire1	spire-type actin nucleation factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305894	Tcf7	transcription factor 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305894	Tcf7	transcription factor 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305894	Tcf7	transcription factor 7	gene	DOID:0060058	lymphoma		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305894	Tcf7	transcription factor 7	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1314197	D	RGD:13506820|PMID:28220803	20180220	RGD			
1305894	Tcf7	transcription factor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305894	Tcf7	transcription factor 7	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1314197	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
1305894	Tcf7	transcription factor 7	gene	DOID:1909	melanoma		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305894	Tcf7	transcription factor 7	gene	DOID:4362	cervical cancer		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305894	Tcf7	transcription factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305894	Tcf7	transcription factor 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305894	Tcf7	transcription factor 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305894	Tcf7	transcription factor 7	gene	DOID:8778	Crohn's disease		ISO	RGD:1314197	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24994854
1305894	Tcf7	transcription factor 7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:14698291	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: CNOT9-associated neurodevelopmental disorder	PMID:25741868
1305894	Tcf7	transcription factor 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305894	Tcf7	transcription factor 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305894	Tcf7	transcription factor 7	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1314197	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26808113
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:10534	stomach cancer		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:12849	autistic disorder		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:1324	lung cancer		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:1826	epilepsy		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:1909	melanoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:2394	ovarian cancer		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:3717	gastric adenocarcinoma	susceptibility	ISO	RGD:1352197	D	RGD:152995256|PMID:27366209	20220609	RGD		DNA:amplification:cds: (human)	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:4990	essential tremor		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Essential tremor	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1352197	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:5419	schizophrenia		ISO	RGD:1352197	D	RGD:8554872	20160421	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:25741868
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:9000081	Lymphatic Metastasis	susceptibility	ISO	RGD:1352197	D	RGD:152995256|PMID:27366209	20220609	RGD		DNA:amplification:cds: (human, male)	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:9000918	Disease Progression		ISO	RGD:1352197	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1352197	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
1305895	Abca13	ATP binding cassette subfamily A member 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305897	Mrrf	mitochondrial ribosome recycling factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305897	Mrrf	mitochondrial ribosome recycling factor	gene	DOID:10534	stomach cancer		ISO	RGD:1314201	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305897	Mrrf	mitochondrial ribosome recycling factor	gene	DOID:1324	lung cancer		ISO	RGD:1314201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305897	Mrrf	mitochondrial ribosome recycling factor	gene	DOID:2661	myoepithelioma		ISO	RGD:1314201	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1305897	Mrrf	mitochondrial ribosome recycling factor	gene	DOID:4362	cervical cancer		ISO	RGD:1314201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305897	Mrrf	mitochondrial ribosome recycling factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305897	Mrrf	mitochondrial ribosome recycling factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305897	Mrrf	mitochondrial ribosome recycling factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305898	Bend7	BEN domain containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305898	Bend7	BEN domain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305898	Bend7	BEN domain containing 7	gene	DOID:10534	stomach cancer		ISO	RGD:1314203	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305898	Bend7	BEN domain containing 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305898	Bend7	BEN domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305898	Bend7	BEN domain containing 7	gene	DOID:1324	lung cancer		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305898	Bend7	BEN domain containing 7	gene	DOID:4362	cervical cancer		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305898	Bend7	BEN domain containing 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305898	Bend7	BEN domain containing 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1314203	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305898	Bend7	BEN domain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305899	Tcfl5	transcription factor like 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305899	Tcfl5	transcription factor like 5	gene	DOID:0070311	oligoasthenoteratozoospermia		ISO	RGD:1348705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligoasthenoteratozoospermia	PMID:34931239|PMID:35768632
1305899	Tcfl5	transcription factor like 5	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1348705	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1305899	Tcfl5	transcription factor like 5	gene	DOID:4362	cervical cancer		ISO	RGD:1348705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305899	Tcfl5	transcription factor like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305899	Tcfl5	transcription factor like 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305899	Tcfl5	transcription factor like 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305899	Tcfl5	transcription factor like 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305900	Spart	spartin	gene	DOID:0050886	Troyer syndrome		ISO	RGD:1314206	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305900	Spart	spartin	gene	DOID:0050886	Troyer syndrome		ISO	RGD:1314206	D	RGD:7240710	20130221	OMIM			
1305900	Spart	spartin	gene	DOID:0050886	Troyer syndrome		ISO	RGD:1314206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SPART-related condition | ClinVar Annotator: match by term: Troyer syndrome	PMID:12134148|PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:26467025|PMID:28492532
1305900	Spart	spartin	gene	DOID:0050886	Troyer syndrome		ISS	RGD:1314207	D	RGD:13592920	20230718	MouseDO		OMIM:275900	
1305900	Spart	spartin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305900	Spart	spartin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305900	Spart	spartin	gene	DOID:1324	lung cancer		ISO	RGD:1314206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305900	Spart	spartin	gene	DOID:1826	epilepsy		ISO	RGD:1314206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532|PMID:28679690
1305900	Spart	spartin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1314206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:26467025|PMID:28492532
1305900	Spart	spartin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305900	Spart	spartin	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:1314206	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23525077
1305900	Spart	spartin	gene	DOID:540	strabismus		ISO	RGD:1314206	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1305900	Spart	spartin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305900	Spart	spartin	gene	DOID:630	genetic disease		ISO	RGD:1314206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1305900	Spart	spartin	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532
1305900	Spart	spartin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532
1305900	Spart	spartin	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1314206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532
1305900	Spart	spartin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305900	Spart	spartin	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1314206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532
1305900	Spart	spartin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:28492532
1305901	Cstf3	cleavage stimulation factor subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1314208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305901	Cstf3	cleavage stimulation factor subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1314208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305901	Cstf3	cleavage stimulation factor subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305901	Cstf3	cleavage stimulation factor subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314208	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305901	Cstf3	cleavage stimulation factor subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305901	Cstf3	cleavage stimulation factor subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305901	Cstf3	cleavage stimulation factor subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305901	Cstf3	cleavage stimulation factor subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:1115	sarcoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:1612	breast cancer	severity	ISO	RGD:1314209	D	RGD:9586031|PMID:22199269	20141003	RGD		mRNA:increased expression:breast (human)	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:1909	melanoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:3275	thymoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1314209	D	RGD:9590307|PMID:19525977	20141124	RGD		mRNA:decreased expression:esophagus (human)	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314209	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1314209	D	RGD:9590314|PMID:23643089	20141124	RGD		protein:decreased expression:liver (human)	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1314209	D	RGD:155791669|PMID:36104638	20230104	RGD		mRNA:increased expression:peripheral blood mononuclear cell	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:9000528	Coronary Disease	severity	ISO	RGD:1314209	D	RGD:9590309|PMID:21062767	20141124	RGD		DNA:snp:promoter:g.-2481G>C (human)	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305902	Kat2b	lysine acetyltransferase 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305903	Zfp771	zinc finger protein 771	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305903	Zfp771	zinc finger protein 771	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305904	Epyc	epiphycan	gene	DOID:10534	stomach cancer		ISO	RGD:1314212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305904	Epyc	epiphycan	gene	DOID:1324	lung cancer		ISO	RGD:1314212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305904	Epyc	epiphycan	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305904	Epyc	epiphycan	gene	DOID:5041	esophageal cancer		ISO	RGD:1314212	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305904	Epyc	epiphycan	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305904	Epyc	epiphycan	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305905	Slc7a4	solute carrier family 7, member 4	gene	DOID:1324	lung cancer		ISO	RGD:1314214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1305905	Slc7a4	solute carrier family 7, member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305905	Slc7a4	solute carrier family 7, member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305906	Lats2	large tumor suppressor kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305906	Lats2	large tumor suppressor kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1314216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305906	Lats2	large tumor suppressor kinase 2	gene	DOID:1788	peritoneal mesothelioma		ISO	RGD:1314216	D	RGD:8554872	20211026	ClinVar		ClinVar Annotator: match by term: Peritoneal mesothelioma	
1305906	Lats2	large tumor suppressor kinase 2	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1314216	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17049657
1305906	Lats2	large tumor suppressor kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1314216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305906	Lats2	large tumor suppressor kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305906	Lats2	large tumor suppressor kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314216	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305906	Lats2	large tumor suppressor kinase 2	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1314216	D	RGD:153297782|PMID:32682784	20220726	RGD		Human cells in mouse model	
1305907	Taf10	TATA-box binding protein associated factor 10	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314218	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:17576681|PMID:24033266|PMID:25163546|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29915097|PMID:9536098
1305907	Taf10	TATA-box binding protein associated factor 10	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314218	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:11402068|PMID:11694518|PMID:14745274|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29915097|PMID:30206291|PMID:31983221|PMID:33874732|PMID:34935411|PMID:9536098
1305907	Taf10	TATA-box binding protein associated factor 10	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314218	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:25741868|PMID:28492532|PMID:29915097|PMID:33874732
1305907	Taf10	TATA-box binding protein associated factor 10	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314218	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE	
1305907	Taf10	TATA-box binding protein associated factor 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305908	Tnfaip8	TNF alpha induced protein 8	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1314220	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:21969086
1305908	Tnfaip8	TNF alpha induced protein 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1314220	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305908	Tnfaip8	TNF alpha induced protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305908	Tnfaip8	TNF alpha induced protein 8	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1314220	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1305908	Tnfaip8	TNF alpha induced protein 8	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1314220	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21969086
1305908	Tnfaip8	TNF alpha induced protein 8	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314220	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305908	Tnfaip8	TNF alpha induced protein 8	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:14698291	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: CNOT9-associated neurodevelopmental disorder	PMID:25741868
1305908	Tnfaip8	TNF alpha induced protein 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305908	Tnfaip8	TNF alpha induced protein 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305909	Ndufb5	NADH:ubiquinone oxidoreductase subunit B5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305909	Ndufb5	NADH:ubiquinone oxidoreductase subunit B5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305909	Ndufb5	NADH:ubiquinone oxidoreductase subunit B5	gene	DOID:0080600	COVID-19		ISO	RGD:1314222	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1305909	Ndufb5	NADH:ubiquinone oxidoreductase subunit B5	gene	DOID:10534	stomach cancer		ISO	RGD:1314222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305909	Ndufb5	NADH:ubiquinone oxidoreductase subunit B5	gene	DOID:1324	lung cancer		ISO	RGD:1314222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305909	Ndufb5	NADH:ubiquinone oxidoreductase subunit B5	gene	DOID:1909	melanoma		ISO	RGD:1314222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305909	Ndufb5	NADH:ubiquinone oxidoreductase subunit B5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305909	Ndufb5	NADH:ubiquinone oxidoreductase subunit B5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305909	Ndufb5	NADH:ubiquinone oxidoreductase subunit B5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305909	Ndufb5	NADH:ubiquinone oxidoreductase subunit B5	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:1314223	D	RGD:13801194|PMID:24692845	20181105	RGD			
1305909	Ndufb5	NADH:ubiquinone oxidoreductase subunit B5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305909	Ndufb5	NADH:ubiquinone oxidoreductase subunit B5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305909	Ndufb5	NADH:ubiquinone oxidoreductase subunit B5	gene	DOID:9003631	Diastolic Dysfunction		IEP		D	RGD:13801193|PMID:26790384	20181105	RGD		associated with obesity;mRNA, protein:decreased expression:myocardium	
1305909	Ndufb5	NADH:ubiquinone oxidoreductase subunit B5	gene	DOID:9408	acute myocardial infarction	ameliorates	IEP		D	RGD:401794445|PMID:35257523	20230829	RGD		associated with obesity	
1305910	Sorcs1	sortilin-related VPS10 domain containing receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305910	Sorcs1	sortilin-related VPS10 domain containing receptor 1	gene	DOID:0110038	Alzheimer's disease 6		ISO	RGD:1314224	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Alzheimer disease 6	PMID:25741868
1305910	Sorcs1	sortilin-related VPS10 domain containing receptor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1314224	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305910	Sorcs1	sortilin-related VPS10 domain containing receptor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1314224	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305910	Sorcs1	sortilin-related VPS10 domain containing receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305910	Sorcs1	sortilin-related VPS10 domain containing receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1314224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305910	Sorcs1	sortilin-related VPS10 domain containing receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1314224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305910	Sorcs1	sortilin-related VPS10 domain containing receptor 1	gene	DOID:1909	melanoma		ISO	RGD:1314224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305910	Sorcs1	sortilin-related VPS10 domain containing receptor 1	gene	DOID:3275	thymoma		ISO	RGD:1314224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305910	Sorcs1	sortilin-related VPS10 domain containing receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305910	Sorcs1	sortilin-related VPS10 domain containing receptor 1	gene	DOID:576	proteinuria		IMP		D	RGD:12910977|PMID:23780848	20191003	RGD		associated with hypertension	
1305910	Sorcs1	sortilin-related VPS10 domain containing receptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:0050877	pancreatic agenesis		ISO	RGD:1314226	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pancreatic hypoplasia	PMID:19057675|PMID:23423674|PMID:25741868|PMID:28492532|PMID:37278357
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:0060483	MEDNIK syndrome		ISO	RGD:1314226	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23423674
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:0060483	MEDNIK syndrome		ISO	RGD:1314226	D	RGD:7240710	20130731	OMIM			
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:0060483	MEDNIK syndrome		ISO	RGD:1314226	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AP1S1-related condition | ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS, KAMOURASKA TYPE | ClinVar Annotator: match by term: MEDNIK SYNDROME | ClinVar Annotator: match by term: MEDNIK syndrome	PMID:16199547|PMID:19057675|PMID:23423674|PMID:25741868|PMID:28492532|PMID:30244301|PMID:37278357
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:0060483	MEDNIK syndrome		ISO	RGD:1314226	D	RGD:9684947|PMID:19057675	20141210	RGD		DNA:mutation:splice junction:	
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:1314226	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23423674
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1314226	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:19057675|PMID:23423674|PMID:25741868|PMID:28492532|PMID:37278357
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:630	genetic disease		ISO	RGD:1314226	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:19057675|PMID:23423674|PMID:25741868|PMID:28492532
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1314226	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:19057675|PMID:23423674|PMID:25741868|PMID:28492532|PMID:37278357
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:9001585	Intraventricular Hemorrhage		ISO	RGD:1314226	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intraventricular hemorrhage	PMID:19057675|PMID:23423674|PMID:25741868|PMID:28492532|PMID:37278357
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:9006635	Hyponatremia		ISO	RGD:1314226	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:19057675|PMID:23423674|PMID:25741868|PMID:28492532|PMID:37278357
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305911	Ap1s1	adaptor related protein complex 1 subunit sigma 1	gene	DOID:9455	lipid storage disease		ISO	RGD:1314226	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17175557
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:0051001	congenital dyserythropoietic anemia type IIIb		ISO	RGD:1314228	D	RGD:7240710	20220330	OMIM			
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:0051001	congenital dyserythropoietic anemia type IIIb		ISO	RGD:1314228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb	PMID:36200420
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1314228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1314228	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1314228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314228	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1305912	Racgap1	Rac GTPase-activating protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305913	Rpl10l	ribosomal protein L10 like	gene	DOID:0070176	spermatogenic failure 4		ISO	RGD:1314230	D	RGD:8554872	20200825	ClinVar		ClinVar Annotator: match by term: Spermatogenesis maturation arrest	PMID:32111475
1305913	Rpl10l	ribosomal protein L10 like	gene	DOID:0112356	spermatogenic failure 63		ISO	RGD:1314230	D	RGD:7240710	20220126	OMIM			
1305913	Rpl10l	ribosomal protein L10 like	gene	DOID:10283	prostate cancer		ISO	RGD:1314230	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1305913	Rpl10l	ribosomal protein L10 like	gene	DOID:10283	prostate cancer		ISO	RGD:1314230	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1305913	Rpl10l	ribosomal protein L10 like	gene	DOID:9008892	Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis		ISO	RGD:1314230	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis	
1305914	Hes7	hes family bHLH transcription factor 7	gene	DOID:0112364	spondylocostal dysostosis 4		ISO	RGD:1314231	D	RGD:7240710	20130221	OMIM			
1305914	Hes7	hes family bHLH transcription factor 7	gene	DOID:0112364	spondylocostal dysostosis 4		ISO	RGD:1314231	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HES7-related condition | ClinVar Annotator: match by term: SPONDYLOCOSTAL DYSOSTOSIS 4 | ClinVar Annotator: match by term: Spondylocostal dysostosis 4, autosomal recessive	PMID:20087400|PMID:23897666|PMID:25741868|PMID:28492532
1305914	Hes7	hes family bHLH transcription factor 7	gene	DOID:0112364	spondylocostal dysostosis 4		ISS	RGD:1314232	D	RGD:13592920	20260129	MouseDO		OMIM:613686	
1305914	Hes7	hes family bHLH transcription factor 7	gene	DOID:630	genetic disease		ISO	RGD:1314231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305914	Hes7	hes family bHLH transcription factor 7	gene	DOID:9006006	Spondylocostal Dysostosis, Autosomal Recessive		ISO	RGD:1314231	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1305914	Hes7	hes family bHLH transcription factor 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305915	Armc10	armadillo repeat containing 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305915	Armc10	armadillo repeat containing 10	gene	DOID:1115	sarcoma		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305915	Armc10	armadillo repeat containing 10	gene	DOID:1909	melanoma		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305915	Armc10	armadillo repeat containing 10	gene	DOID:4362	cervical cancer		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305915	Armc10	armadillo repeat containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305915	Armc10	armadillo repeat containing 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305915	Armc10	armadillo repeat containing 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305915	Armc10	armadillo repeat containing 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1605608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305919	Zfp213	zinc finger protein 213	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305919	Zfp213	zinc finger protein 213	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305919	Zfp213	zinc finger protein 213	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305919	Zfp213	zinc finger protein 213	gene	DOID:1909	melanoma		ISO	RGD:1314237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305919	Zfp213	zinc finger protein 213	gene	DOID:4362	cervical cancer		ISO	RGD:1314237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305919	Zfp213	zinc finger protein 213	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305919	Zfp213	zinc finger protein 213	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305919	Zfp213	zinc finger protein 213	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305920	Ttc7b	tetratricopeptide repeat domain 7B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305920	Ttc7b	tetratricopeptide repeat domain 7B	gene	DOID:1324	lung cancer		ISO	RGD:1314238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305920	Ttc7b	tetratricopeptide repeat domain 7B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305920	Ttc7b	tetratricopeptide repeat domain 7B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305920	Ttc7b	tetratricopeptide repeat domain 7B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314238	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305920	Ttc7b	tetratricopeptide repeat domain 7B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305921	Pkn3	protein kinase N3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305921	Pkn3	protein kinase N3	gene	DOID:10534	stomach cancer		ISO	RGD:1314240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305921	Pkn3	protein kinase N3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305921	Pkn3	protein kinase N3	gene	DOID:1115	sarcoma		ISO	RGD:1314240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305921	Pkn3	protein kinase N3	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1314240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy	PMID:25741868
1305921	Pkn3	protein kinase N3	gene	DOID:1909	melanoma		ISO	RGD:1314240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305921	Pkn3	protein kinase N3	gene	DOID:3275	thymoma		ISO	RGD:1314240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305921	Pkn3	protein kinase N3	gene	DOID:4362	cervical cancer		ISO	RGD:1314240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305921	Pkn3	protein kinase N3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305921	Pkn3	protein kinase N3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305921	Pkn3	protein kinase N3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305921	Pkn3	protein kinase N3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:0001816	angiosarcoma		ISO	RGD:1314242	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24633157
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:0001816	angiosarcoma		ISO	RGD:1314242	D	RGD:151361292|PMID:24633157	20220302	RGD		DNA:mutations:multiple (human)	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:0001816	angiosarcoma		ISO	RGD:1314242	D	RGD:151665099|PMID:26440310	20220310	RGD		DNA:mutation:multiple (human)	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:0060108	brain glioma		ISO	RGD:1314242	D	RGD:151660356|PMID:33900414	20220307	RGD		protein:increased expression:brain (human)	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:0060108	brain glioma		ISO	RGD:1314242	D	RGD:151660368|PMID:16923162	20220307	RGD		human cell in mouse model	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1314242	D	RGD:151361283|PMID:31040266	20220302	RGD		associated with metastasis; human cells in mouse model	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:10534	stomach cancer		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:1115	sarcoma		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:1115	sarcoma	treatment	ISO	RGD:1314242	D	RGD:151660332|PMID:31089155	20220303	RGD			
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:1324	lung cancer		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:14400	capillary leak syndrome	treatment	ISO	RGD:1552328	D	RGD:151660353|PMID:31348125	20220307	RGD		mouse tumor cells in mouse recipient	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:1909	melanoma		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:3068	glioblastoma		ISO	RGD:1314242	D	RGD:151660507|PMID:14692702	20220307	RGD		protein:increased expression:brain (human)	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:3068	glioblastoma		ISO	RGD:1314242	D	RGD:151664746|PMID:15831233	20220309	RGD		protein:increased expression:brain (human)	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:3068	glioblastoma	treatment	ISO	RGD:1314242	D	RGD:151660504|PMID:16489031	20220307	RGD		human cells in mouse model	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:3275	thymoma		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:3307	teratoma		ISO	RGD:1552328	D	RGD:151660354|PMID:23575676	20220307	RGD			
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:3347	osteosarcoma	disease_progression	ISO	RGD:1314242	D	RGD:151361289|PMID:31829261	20220302	RGD		mRNA:decreased expression:bone (human)	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:3498	pancreatic ductal adenocarcinoma	disease_progression	ISO	RGD:1314242	D	RGD:151660329|PMID:32663515	20220303	RGD		protein:decreased expression:blood (human)	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1314242	D	RGD:151361281|PMID:27314562	20220302	RGD		human cells in mouse model	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1314242	D	RGD:151361281|PMID:27314562	20220302	RGD		mRNA:decreased expression:lung (human)	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1314242	D	RGD:151665112|PMID:7981622	20220310	RGD		mRNA:decreased expression:lung (human)	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1314242	D	RGD:151665107|PMID:29254206	20220310	RGD		mRNA:altered expression:lung (human)	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:3963	thyroid gland carcinoma	treatment	ISO	RGD:1314242	D	RGD:151665104|PMID:32626543	20220310	RGD			
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:4362	cervical cancer		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:4511	breast angiosarcoma		ISO	RGD:1314242	D	RGD:151665102|PMID:32123305	20220310	RGD		DNA:mutation:multiple (human)	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:1552328	D	RGD:151660352|PMID:23899555	20220307	RGD			
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:9006608	Lung Carcinoid Tumors	severity	ISO	RGD:1314242	D	RGD:151660336|PMID:25105010	20220303	RGD		mRNA:decreased expression:lung (human)	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:9006618	Liver Metastasis	treatment	ISO	RGD:1552328	D	RGD:151660353|PMID:31348125	20220307	RGD		mouse tumor cells in mouse recipient	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305922	Ptprb	protein tyrosine phosphatase, receptor type, B	gene	DOID:9009121	lung metastasis	treatment	ISO	RGD:1552328	D	RGD:151660352|PMID:23899555	20220307	RGD			
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:0110063	amelogenesis imperfecta hypomaturation type 2A5		ISO	RGD:1314247	D	RGD:7240710	20170215	OMIM			
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:0110063	amelogenesis imperfecta hypomaturation type 2A5		ISO	RGD:1314247	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 | ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 | ClinVar Annotator: match by term: SLC24A4-related disorder	PMID:25741868|PMID:28492532
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1314247	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1314247	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: amelogenesis imperfecta	
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:3070	high grade glioma		ISO	RGD:1314247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:630	genetic disease		ISO	RGD:1314247	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:9004829	Skin/Hair/Eye Pigmentation, Variation In, 6		ISO	RGD:1314247	D	RGD:7240710	20221130	OMIM			
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:9004829	Skin/Hair/Eye Pigmentation, Variation In, 6		ISO	RGD:1314247	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR	
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305926	Slc24a4	solute carrier family 24 member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305928	Spmip11	sperm microtubule inner protein 11	gene	DOID:1115	sarcoma		ISO	RGD:7245055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:0060669	cerebral cavernous malformation		ISO	RGD:1314251	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:0060669	cerebral cavernous malformation		ISO	RGD:1314251	D	RGD:1358458|PMID:14755725	20110705	RGD			
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:0060669	cerebral cavernous malformation		ISO	RGD:1314251	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation | ClinVar Annotator: match by term: Cerebral cavernous malformations	PMID:10508515|PMID:10545614|PMID:11161805|PMID:11222804|PMID:11914398|PMID:11959162|PMID:12404106|PMID:12854741|PMID:12882686|PMID:14755725|PMID:15079030|PMID:16199547|PMID:16321204|PMID:16571644|PMID:17277691|PMID:17345049|PMID:17440989|PMID:17576681|PMID:18060436|PMID:18300272|PMID:18380023|PMID:18383588|PMID:19099113|PMID:19763152|PMID:20301470|PMID:20306072|PMID:20307669|PMID:20351573|PMID:20419355|PMID:21029238|PMID:22406018|PMID:23595507|PMID:23828392|PMID:24007869|PMID:24466005|PMID:24689081|PMID:25413039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27462358|PMID:27792856|PMID:28000143|PMID:28492532|PMID:28645800|PMID:28745674|PMID:29593473|PMID:30161288|PMID:31124307|PMID:31254430|PMID:32285596|PMID:33136154|PMID:33651268|PMID:33891857|PMID:36580209|PMID:36629374|PMID:9536098
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:0060669	cerebral cavernous malformation		ISS	RGD:1614252	D	RGD:13592920	20230718	MouseDO			
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:0060669	cerebral cavernous malformation	susceptibility	ISO	RGD:1314251	D	RGD:1598379|PMID:15079030	20070129	RGD			
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:0080491	cerebral cavernous malformation 1		ISO	RGD:1314251	D	RGD:7240710	20190227	OMIM			
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:0080491	cerebral cavernous malformation 1		ISO	RGD:1314251	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEREBRAL CAVERNOUS MALFORMATIONS 1 | ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: Cerebral cavernous malformations-1 | ClinVar Annotator: match by term: KRIT1-Related Disorders | ClinVar Annotator: match by term: KRIT1-related condition	PMID:10508515|PMID:11161805|PMID:11222804|PMID:11914398|PMID:11941540|PMID:12404106|PMID:12810002|PMID:14755725|PMID:16571644|PMID:17562932|PMID:19454328|PMID:20301470|PMID:23595507|PMID:24007869|PMID:24689081|PMID:24721395|PMID:25525273|PMID:25741868|PMID:27792856|PMID:28492532|PMID:29593473|PMID:30161288|PMID:33651268
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:10534	stomach cancer		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:10907	microcephaly		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:1115	sarcoma		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:1324	lung cancer		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:1826	epilepsy		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10508515|PMID:11222804|PMID:12404106|PMID:16571644|PMID:20301470|PMID:23595507|PMID:23828392|PMID:24689081|PMID:25741868|PMID:27462358|PMID:28492532|PMID:29593473|PMID:36629374
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:1909	melanoma		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:483	cavernous hemangioma		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cavernous hemangioma	PMID:10508515|PMID:11222804|PMID:12404106|PMID:16571644|PMID:20301470|PMID:23595507|PMID:23828392|PMID:24689081|PMID:25741868|PMID:27462358|PMID:28492532|PMID:29593473|PMID:31254430|PMID:36629374
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:630	genetic disease		ISO	RGD:1314251	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10508515|PMID:11161805|PMID:11222804|PMID:12404106|PMID:20301470|PMID:24689081|PMID:25741868|PMID:26467025|PMID:28492532
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:6713	cerebrovascular disease		ISO	RGD:1314251	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: Abnormal cerebral vascular morphology	PMID:25741868
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:8725	vascular dementia		ISO	RGD:1314251	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:33268848
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:9000043	Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas		ISO	RGD:1314251	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas	PMID:20419355|PMID:25525273|PMID:25741868|PMID:26467025|PMID:28492532
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:9002924	Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations		ISO	RGD:1314251	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations	
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:9004538	Hearing Loss		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:9006290	Central Nervous System Venous Angioma		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral venous angioma	PMID:25741868
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:9008078	Cavernous Malformations of CNS and Retina		ISO	RGD:1314251	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAVERNOUS MALFORMATIONS OF CNS AND RETINA	
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
1305929	Krit1	KRIT1, ankyrin repeat containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305930	Entr1	endosome associated trafficking regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305930	Entr1	endosome associated trafficking regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305930	Entr1	endosome associated trafficking regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305930	Entr1	endosome associated trafficking regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305930	Entr1	endosome associated trafficking regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305930	Entr1	endosome associated trafficking regulator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305930	Entr1	endosome associated trafficking regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305930	Entr1	endosome associated trafficking regulator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305930	Entr1	endosome associated trafficking regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305930	Entr1	endosome associated trafficking regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314253	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305930	Entr1	endosome associated trafficking regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305931	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305931	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305931	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305931	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:1115	sarcoma		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305931	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:1324	lung cancer		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305931	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:3275	thymoma		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305931	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1314254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305931	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305931	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305931	Abca9	ATP binding cassette subfamily A member 9	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1314254	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1305932	Nccrp1	NCCRP1, F-box associated domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1602046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305932	Nccrp1	NCCRP1, F-box associated domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1602046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305932	Nccrp1	NCCRP1, F-box associated domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305932	Nccrp1	NCCRP1, F-box associated domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1305933	Pald1	phosphatase domain containing, paladin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305933	Pald1	phosphatase domain containing, paladin 1	gene	DOID:1115	sarcoma		ISO	RGD:1346451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305933	Pald1	phosphatase domain containing, paladin 1	gene	DOID:1324	lung cancer		ISO	RGD:1346451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305933	Pald1	phosphatase domain containing, paladin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305933	Pald1	phosphatase domain containing, paladin 1	gene	DOID:3275	thymoma		ISO	RGD:1346451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305933	Pald1	phosphatase domain containing, paladin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305933	Pald1	phosphatase domain containing, paladin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305933	Pald1	phosphatase domain containing, paladin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305933	Pald1	phosphatase domain containing, paladin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346451	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305933	Pald1	phosphatase domain containing, paladin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305933	Pald1	phosphatase domain containing, paladin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305933	Pald1	phosphatase domain containing, paladin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305938	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305938	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:0060058	lymphoma		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1305938	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305938	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305938	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305938	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305938	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305938	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604481	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305938	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305938	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305938	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305938	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305938	Rimoc1	RAB7A interacting MON1-CCZ1 complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305939	Fam227a	family with sequence similarity 227, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:6767369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305939	Fam227a	family with sequence similarity 227, member A	gene	DOID:1115	sarcoma		ISO	RGD:6767369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305939	Fam227a	family with sequence similarity 227, member A	gene	DOID:4362	cervical cancer		ISO	RGD:6767369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305939	Fam227a	family with sequence similarity 227, member A	gene	DOID:5041	esophageal cancer		ISO	RGD:6767369	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305939	Fam227a	family with sequence similarity 227, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:6767369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305939	Fam227a	family with sequence similarity 227, member A	gene	DOID:9256	colorectal cancer		ISO	RGD:6767369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305941	Plcl2	phospholipase C-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305941	Plcl2	phospholipase C-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305941	Plcl2	phospholipase C-like 2	gene	DOID:5419	schizophrenia		ISO	RGD:1314267	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1305941	Plcl2	phospholipase C-like 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305941	Plcl2	phospholipase C-like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305942	Rai14	retinoic acid induced 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305942	Rai14	retinoic acid induced 14	gene	DOID:10534	stomach cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305942	Rai14	retinoic acid induced 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305942	Rai14	retinoic acid induced 14	gene	DOID:1115	sarcoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305942	Rai14	retinoic acid induced 14	gene	DOID:1324	lung cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305942	Rai14	retinoic acid induced 14	gene	DOID:1909	melanoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305942	Rai14	retinoic acid induced 14	gene	DOID:3275	thymoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305942	Rai14	retinoic acid induced 14	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305942	Rai14	retinoic acid induced 14	gene	DOID:4362	cervical cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305942	Rai14	retinoic acid induced 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305942	Rai14	retinoic acid induced 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305942	Rai14	retinoic acid induced 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1314269	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305942	Rai14	retinoic acid induced 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305942	Rai14	retinoic acid induced 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305942	Rai14	retinoic acid induced 14	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305942	Rai14	retinoic acid induced 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305942	Rai14	retinoic acid induced 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305944	Mrm2	mitochondrial rRNA methyltransferase 2	gene	DOID:0070448	mitochondrial DNA depletion syndrome 17		ISO	RGD:1314273	D	RGD:7240710	20190911	OMIM			
1305944	Mrm2	mitochondrial rRNA methyltransferase 2	gene	DOID:0070448	mitochondrial DNA depletion syndrome 17		ISO	RGD:1314273	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 | ClinVar Annotator: match by term: MRM2-related condition | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 17	PMID:25741868|PMID:28492532|PMID:28973171
1305944	Mrm2	mitochondrial rRNA methyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1314273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305944	Mrm2	mitochondrial rRNA methyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305944	Mrm2	mitochondrial rRNA methyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314273	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305944	Mrm2	mitochondrial rRNA methyltransferase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305944	Mrm2	mitochondrial rRNA methyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305945	Slamf9	SLAM family member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1314275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305945	Slamf9	SLAM family member 9	gene	DOID:1324	lung cancer		ISO	RGD:1314275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305945	Slamf9	SLAM family member 9	gene	DOID:1909	melanoma		ISO	RGD:1314275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305945	Slamf9	SLAM family member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305945	Slamf9	SLAM family member 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314275	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305947	Ift57	intraflagellar transport 57	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868|PMID:28492532|PMID:40273360
1305947	Ift57	intraflagellar transport 57	gene	DOID:0060961	orofaciodigital syndrome XVIII		ISO	RGD:1314279	D	RGD:7240710	20190315	OMIM			
1305947	Ift57	intraflagellar transport 57	gene	DOID:0060961	orofaciodigital syndrome XVIII		ISO	RGD:1314279	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IFT57-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome 18 | ClinVar Annotator: match by term: Orofaciodigital syndrome XVIII	PMID:25741868|PMID:28492532
1305947	Ift57	intraflagellar transport 57	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:40273360
1305947	Ift57	intraflagellar transport 57	gene	DOID:1148	polydactyly		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:28492532|PMID:40273360
1305947	Ift57	intraflagellar transport 57	gene	DOID:12858	Huntington's disease		ISO	RGD:1314280	D	RGD:13432581|PMID:25989602	20171002	RGD		protein:altered localization:cilia	
1305947	Ift57	intraflagellar transport 57	gene	DOID:1324	lung cancer		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305947	Ift57	intraflagellar transport 57	gene	DOID:1909	melanoma		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305947	Ift57	intraflagellar transport 57	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868|PMID:28492532|PMID:40273360
1305947	Ift57	intraflagellar transport 57	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305947	Ift57	intraflagellar transport 57	gene	DOID:4362	cervical cancer		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305947	Ift57	intraflagellar transport 57	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305947	Ift57	intraflagellar transport 57	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305947	Ift57	intraflagellar transport 57	gene	DOID:8499	night blindness		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Night blindness	PMID:25741868|PMID:28492532|PMID:40273360
1305947	Ift57	intraflagellar transport 57	gene	DOID:9002008	BROWN SYNDROME		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brown syndrome	PMID:25741868|PMID:28492532|PMID:40273360
1305947	Ift57	intraflagellar transport 57	gene	DOID:9004538	Hearing Loss		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:40273360
1305947	Ift57	intraflagellar transport 57	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:28492532|PMID:40273360
1305947	Ift57	intraflagellar transport 57	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305947	Ift57	intraflagellar transport 57	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305947	Ift57	intraflagellar transport 57	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:40273360
1305947	Ift57	intraflagellar transport 57	gene	DOID:9970	obesity		ISO	RGD:1314279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532|PMID:40273360
1305948	Sec61a2	SEC61 translocon subunit alpha 2	gene	DOID:1115	sarcoma		ISO	RGD:1314281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305948	Sec61a2	SEC61 translocon subunit alpha 2	gene	DOID:1324	lung cancer		ISO	RGD:1314281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305948	Sec61a2	SEC61 translocon subunit alpha 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305948	Sec61a2	SEC61 translocon subunit alpha 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314281	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305948	Sec61a2	SEC61 translocon subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305948	Sec61a2	SEC61 translocon subunit alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305948	Sec61a2	SEC61 translocon subunit alpha 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305948	Sec61a2	SEC61 translocon subunit alpha 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia	PMID:11499719|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19574547|PMID:20474083|PMID:21409595|PMID:21985754|PMID:22455086|PMID:23690394|PMID:24033266|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25543971|PMID:25611685|PMID:25741868|PMID:25892673|PMID:26271555|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29398688|PMID:30025578|PMID:30550750|PMID:30847666|PMID:31513939|PMID:31534214|PMID:31737537|PMID:32841044|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34542152|PMID:34598319|PMID:35176171|PMID:35257994|PMID:38002985|PMID:38540378
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1314284	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28492532
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:12707239|PMID:25132132|PMID:28356264|PMID:28492532
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151713
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17386157|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20298698|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26743238
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30985088|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31293105|PMID:3140859|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32543992|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32880476|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33407484|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34540771|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28265379|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30985088|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31293105|PMID:3140859|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31589614|PMID:31730716|PMID:31737537|PMID:31918855|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32880476|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31323898|PMID:31376648|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31323898|PMID:31376648|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:35629155|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:33919104|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:33919104|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34819141|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35304488|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:36328362|PMID:36588553|PMID:397516074|PMID:3980194
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33232181|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:33906374|PMID:33919104|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34819141|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35304488|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:36264615
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:36328362|PMID:36588553|PMID:397516074|PMID:3980194|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:32917565|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:34011823|PMID:34026292|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34667957|PMID:34769381|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36788754|PMID:36835444|PMID:37178278|PMID:37477868|PMID:37589201|PMID:37963751|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741909|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:32917565|PMID:33003980
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34667957|PMID:34769381|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36788754|PMID:36835444|PMID:37178278|PMID:37477868|PMID:37589201|PMID:37963751|PMID:3852942|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37963751|PMID:38296580|PMID:3852942|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20817590|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22515980|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37963751|PMID:38296580|PMID:3852942|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37963751|PMID:38296580|PMID:3852942|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20817590|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22515980|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37937776|PMID:37963751|PMID:38296580|PMID:3852942|PMID:39481677|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21488308|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34680864|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937352|PMID:37937776|PMID:37963751|PMID:38002985|PMID:38296580|PMID:38489124|PMID:3852942|PMID:38540378|PMID:38757491|PMID:39481677|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21488308|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34680864|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937352|PMID:37937776|PMID:37963751|PMID:38002985|PMID:38296580|PMID:38489124|PMID:3852942|PMID:38540378|PMID:38757491|PMID:39481677|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17823372|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21488308|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:24906243|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34680864|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37750083|PMID:37844837|PMID:37937352|PMID:37937776|PMID:37963751|PMID:38002985|PMID:38094187|PMID:38296580|PMID:38489124|PMID:3852942|PMID:38540378|PMID:38757491|PMID:38836037|PMID:39001760|PMID:39481677|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10024348|PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11322659|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11704759|PMID:11748309|PMID:11814735|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12960218|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16783378|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17192269|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17532296|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17823372|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18698230|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19279310|PMID:19293840|PMID:19356534|PMID:19387866|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20108370|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21158001|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21488308|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21598360|PMID:21638988|PMID:2171331|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22190617|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22848035|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23211702|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23935525|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24870368|PMID:24888384|PMID:24906243|PMID:25031304
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25164370|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26776584|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27463523|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27657681|PMID:27662471|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28793143|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29021349|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29625023|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32268277|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32917565|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33095980|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33558530|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33946315|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34087240|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34667957|PMID:34680864|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35177841|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36660067|PMID:36704059|PMID:36788754|PMID:36835444|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37750083|PMID:37844837|PMID:37937352|PMID:37937776|PMID:37963751|PMID:38002985|PMID:38094187|PMID:38296580|PMID:38489124|PMID:3852942|PMID:38540378|PMID:38757491|PMID:38836037|PMID:39001760|PMID:39481677|PMID:397516074|PMID:3980194|PMID:40115818|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:8852666|PMID:8898206|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9395081|PMID:9488686|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Idiopathic cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12202917|PMID:12386147|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15519027|PMID:15563892|PMID:15671604|PMID:16004897|PMID:16061003|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16335287|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16858239|PMID:17263690|PMID:17386157|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17823372|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19149795|PMID:19150014|PMID:19273718|PMID:19356534|PMID:19574547|PMID:19659763|PMID:19694057|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:20800588|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21239446|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21425739|PMID:21472310|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21959974|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22560514|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24440382|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25611685|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26223264|PMID:26332594|PMID:26467025|PMID:26489474|PMID:26633542|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26899768|PMID:26914223|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27173948|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28747690|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29021349|PMID:29029073|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29497013|PMID:29524613|PMID:29540472|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29875314|PMID:29875424
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Idiopathic cardiomyopathy	PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30456444|PMID:30550750|PMID:30571196|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30984009|PMID:31006259|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31229680|PMID:31293105|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31568572|PMID:31660989|PMID:31677916|PMID:31729605|PMID:31737537|PMID:31771441|PMID:31901299|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31983221|PMID:32009526|PMID:32034629|PMID:32041989|PMID:32183154|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32369506|PMID:32380161|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33588347|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33830315|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33954932|PMID:33996946|PMID:34087240|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34556856|PMID:34601892|PMID:34694434|PMID:34769381|PMID:34785479|PMID:34935411|PMID:35026164|PMID:35176171|PMID:35177841|PMID:35199016|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35934244|PMID:35947370|PMID:36005429|PMID:36136372|PMID:36162733|PMID:36166435|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36588553|PMID:36788754|PMID:37089884|PMID:37194601|PMID:37466024|PMID:37477868|PMID:37652022|PMID:37844837|PMID:37904629|PMID:37937352|PMID:37937776|PMID:37949234|PMID:38002985|PMID:38008210|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38296580|PMID:38417376|PMID:38456273|PMID:38489124|PMID:38642550|PMID:38757491|PMID:38836037|PMID:38895864|PMID:38938358|PMID:38999502|PMID:39001760|PMID:39125703|PMID:39160446|PMID:39260623|PMID:39272661|PMID:39472908|PMID:39486665|PMID:39554508|PMID:39633578|PMID:39684611|PMID:39895654|PMID:40115818|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9536098|PMID:9541115|PMID:9562578|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10521296|PMID:10610770|PMID:11447480|PMID:11499718|PMID:11499719|PMID:12110947|PMID:12386147|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12974739|PMID:14563344|PMID:14613868|PMID:15000344|PMID:15519027|PMID:15563892|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16335287|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16858239|PMID:17263690|PMID:17386157|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17823372|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19149795|PMID:19150014|PMID:19574547|PMID:19659763|PMID:19694057|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20051424|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20433692|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20560008|PMID:20624503|PMID:20738943|PMID:20800588|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21239446|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21425739|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22429680|PMID:22455086|PMID:22560514|PMID:22763267|PMID:22765922|PMID:22820391|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23590259|PMID:2367451|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24440382|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25611685|PMID:25635128|PMID:25637381|PMID:25740977|PMID:25741868|PMID:25892673|PMID:26090888|PMID:26178432|PMID:26223264|PMID:26271555|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688388|PMID:26743238|PMID:26899768|PMID:26914223|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27662471|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28747690|PMID:28771489|PMID:28790153|PMID:28794111|PMID:2879709|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29021349|PMID:29029073|PMID:29121657|PMID:29192238|PMID:29247119|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29497013|PMID:29524613|PMID:29641836|PMID:29661763|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30446606|PMID:30456444|PMID:30550750|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30984009|PMID:31006259|PMID:31110529|PMID:31219556|PMID:31229680
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:31293105|PMID:31308319|PMID:31376648|PMID:31397097|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31660989|PMID:31677916|PMID:31729605|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31983221|PMID:32034629|PMID:32041989|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32250699|PMID:32355288|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32710830|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32888301|PMID:32901917|PMID:32973354|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33781820|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33954932|PMID:33996946|PMID:34051236|PMID:34076677|PMID:34087240|PMID:34097875|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34540771|PMID:34542152|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34714385|PMID:34769381|PMID:34785479|PMID:34935411|PMID:35026164|PMID:35176171|PMID:35177841|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35288587|PMID:35304488|PMID:35508642|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35934244|PMID:35947370|PMID:36005429|PMID:36166435|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36588553|PMID:36788754|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37466024|PMID:37477868|PMID:37652022|PMID:37821546|PMID:37904629|PMID:37937776|PMID:37949234|PMID:38002985|PMID:38008210|PMID:38104429|PMID:38254962|PMID:38296580|PMID:38417376|PMID:38456273|PMID:38489124|PMID:38540378|PMID:38586174|PMID:38642550|PMID:38757491|PMID:38895864|PMID:38999502|PMID:39001760|PMID:39125703|PMID:39160446|PMID:39260623|PMID:39272661|PMID:39355877|PMID:39472908|PMID:39486665|PMID:39554508|PMID:39633578|PMID:39684611|PMID:41175027|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9536098|PMID:9541115|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:1314284	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cobalamin deficiency	PMID:15519027|PMID:19574547|PMID:21959974|PMID:25741868|PMID:28492532|PMID:28640247|PMID:30550750
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:11499719|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19574547|PMID:21409595|PMID:21985754|PMID:22455086|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25741868|PMID:25892673|PMID:26271555|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:28615295|PMID:29121657|PMID:30025578|PMID:30550750|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32841044|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34542152|PMID:34598319|PMID:35176171|PMID:38002985|PMID:38540378
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0060319	cardiac arrest		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:22958901|PMID:24510615|PMID:25637381|PMID:25741868|PMID:27332903|PMID:28492532|PMID:28790153|PMID:29247119|PMID:34935411|PMID:36252119|PMID:37652022
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia	
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:11499718|PMID:15519027|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29300372|PMID:29447731|PMID:29907873|PMID:30696458|PMID:30871747|PMID:32746448|PMID:32841044|PMID:33407484|PMID:33782553|PMID:34400558|PMID:35535697|PMID:35626289|PMID:36252119|PMID:36357371|PMID:38104429|PMID:38254962|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39554508|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9241277|PMID:11815426|PMID:23896226
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:1580234|PMID:16004897	19990101	RGD		DNA:missense mutations: :p.V771M, p.V342D, p.A627V (human)	
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:1580237|PMID:12110947	19990101	RGD		DNA:nonsense mutation, splice-site mutation, deletion:exon, intron:multiple	
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:1580238|PMID:9562578	19990101	RGD		DNA:missense mutations, nonsense mutations: :multiple	
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:1580239|PMID:9048664	19990101	RGD		DNA:nonsense mutations: :multiple	
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29773157|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30446606|PMID:30550750|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31737537|PMID:32009526|PMID:32163302|PMID:32451163|PMID:32746448|PMID:32880476|PMID:33673806|PMID:34097875|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31293105|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32451163|PMID:32480058|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:34097875|PMID:34135346|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31293105|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32451163|PMID:32480058|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34588271|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36588553|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36588553|PMID:397516074|PMID:3980194|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:37178278|PMID:37477868|PMID:37589201|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:37178278|PMID:37477868|PMID:37589201|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36082122|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:11499718|PMID:11499719|PMID:12110947|PMID:12707239|PMID:12974739|PMID:15000344|PMID:15519027|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16679492|PMID:16715312|PMID:16858239|PMID:18258667|PMID:18273486|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:18957093|PMID:19150014|PMID:19574547|PMID:19659763|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20173211|PMID:20378854|PMID:20433692|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20738943|PMID:20800588|PMID:21185001|PMID:21239446|PMID:21310275|PMID:21409595|PMID:21638988|PMID:21750094|PMID:21835320|PMID:21890325|PMID:21985754|PMID:22112859|PMID:22115648|PMID:22267749|PMID:22455086|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23233322|PMID:23299917|PMID:23396983|PMID:23508784|PMID:23527136|PMID:23590259|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24793961|PMID:24888384|PMID:25031304|PMID:25210889|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25543971|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25892673|PMID:26271555|PMID:26654849|PMID:26671970|PMID:26914223|PMID:27108529|PMID:2732257|PMID:27483260|PMID:27532257|PMID:27590665|PMID:27600940|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27885498|PMID:28024942|PMID:28138913|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28679633|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28986452|PMID:29121657|PMID:29300372|PMID:29447731|PMID:29661763|PMID:29709087|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30291343|PMID:30297972|PMID:30446606|PMID:30550750|PMID:30696458|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:31110529|PMID:31293105|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31941943|PMID:31983221|PMID:32163302|PMID:32228044|PMID:32369506|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32588587|PMID:32746448|PMID:32830170|PMID:32841044|PMID:33029862|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33996946|PMID:34076677|PMID:34389451|PMID:34400558|PMID:34542152|PMID:34556856|PMID:34598319|PMID:34714385|PMID:35176171|PMID:35208637|PMID:35288587|PMID:35508642|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:37178278|PMID:37652022|PMID:37904629|PMID:38002985|PMID:38104429|PMID:38254962|PMID:38489124|PMID:38540378|PMID:38642550|PMID:38757491|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39260623|PMID:39486665|PMID:39554508|PMID:39633578|PMID:9241277|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0081158	dilated cardiomyopathy 1MM		ISO	RGD:1314284	D	RGD:7240710	20140911	OMIM			
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0081158	dilated cardiomyopathy 1MM		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10	PMID:11499718|PMID:11499719|PMID:12379228|PMID:12707239|PMID:12974739|PMID:15114369|PMID:15519027|PMID:16199542|PMID:16199547|PMID:16335287|PMID:16715312|PMID:16754800|PMID:16858239|PMID:17560888|PMID:17937428|PMID:18258667|PMID:18337725|PMID:18403758|PMID:18409188|PMID:18467358|PMID:18533079|PMID:18761664|PMID:18957093|PMID:19150014|PMID:19574547|PMID:19659763|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20051424|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20433692|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20738943|PMID:20800588|PMID:21185001|PMID:21239446|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22173300|PMID:22177269|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22429680|PMID:22455086|PMID:22763267|PMID:22765922|PMID:22820391|PMID:22857948|PMID:22958901|PMID:23054336|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23406853|PMID:23418438|PMID:23508784|PMID:23527136|PMID:2367451|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24865491|PMID:25031304|PMID:25132132|PMID:25163546|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25611685|PMID:25635128|PMID:25637381|PMID:25740977|PMID:25741868|PMID:25892673|PMID:26090888|PMID:26178432|PMID:26223264|PMID:26271555|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26914223|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27267291|PMID:27332903|PMID:27418595|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28747690|PMID:28749478|PMID:28771489|PMID:28790153|PMID:2879709|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28986452|PMID:29029073|PMID:29121657|PMID:29247119|PMID:29300372|PMID:29447731|PMID:29524613|PMID:29686099|PMID:29687901|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30009132|PMID:30025578|PMID:30206291|PMID:30297972|PMID:30446606|PMID:30456444|PMID:30550750|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30924982|PMID:31006259|PMID:31110529|PMID:31219556|PMID:31229680|PMID:31308319|PMID:31376648|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31729605|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31941943|PMID:31983221|PMID:32009526|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32250699|PMID:32344918|PMID:32369506|PMID:32396390|PMID:32481709|PMID:32600061|PMID:32686758|PMID:32710830|PMID:32746448|PMID:32815737|PMID:32841044|PMID:32880476|PMID:32973354|PMID:33029862|PMID:33258288|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33657327|PMID:33658040|PMID:33673806|PMID:33781820|PMID:33782553|PMID:3378553|PMID:33892289|PMID:33954932|PMID:33996946|PMID:34051236|PMID:34076677|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34714385|PMID:34935411|PMID:35026164|PMID:35176171|PMID:35208637|PMID:35288587|PMID:35508642|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35934244|PMID:36005429|PMID:36166435|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36788754|PMID:36980931|PMID:37089884|PMID:37466024|PMID:37652022|PMID:37821546|PMID:37904629|PMID:37937776|PMID:38002985|PMID:38104429|PMID:38254962|PMID:38456273|PMID:38489124|PMID:38540378|PMID:38586174|PMID:38999502
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0081158	dilated cardiomyopathy 1MM		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10	PMID:39001760|PMID:39125703|PMID:39160446|PMID:39260623|PMID:39355877|PMID:39486665|PMID:39554508|PMID:39684611|PMID:41175027|PMID:7493025|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29663722|PMID:29686099|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:30025578|PMID:30165862|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:34097875|PMID:34135346|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29663722|PMID:29686099|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:30025578|PMID:30165862|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32492895|PMID:32531501|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34588271|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35653365|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36291626|PMID:36357371|PMID:36588553|PMID:37178278|PMID:37477868|PMID:397516074|PMID:3980194|PMID:739990|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17192269|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:21088121|PMID:21158001|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22515980|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29625023|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33658040|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36136372|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37178278|PMID:37431535|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37937776|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29625023|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33658040|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33874732|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34556856|PMID:34588271|PMID:34598319|PMID:34680864|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937776|PMID:38002985|PMID:38489124|PMID:38540378|PMID:38757491|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17192269|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17823372|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:21088121|PMID:21158001|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:27535533|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29625023|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33658040|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33874732|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34556856|PMID:34588271|PMID:34598319|PMID:34680864|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937776|PMID:38002985|PMID:38094187|PMID:38489124|PMID:38540378|PMID:38757491|PMID:38836037|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10024348|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11322659|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11814735|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17192269|PMID:17224687|PMID:17532296|PMID:17560888|PMID:17576681|PMID:17823372|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18698230|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19387866|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20851114|PMID:20864638|PMID:21088121|PMID:21158001|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21598360|PMID:21638988|PMID:2171331|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22190617|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23935525|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:27267291|PMID:2732257|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27657681|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:2861529|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29300372|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29625023|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29758562|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31771441|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32461654|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33095980|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33658040|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33874732|PMID:33906374|PMID:33946315|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34556856|PMID:34588271|PMID:34598319|PMID:34680864|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35176171|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36136372|PMID:36140281|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:36704059|PMID:37089884|PMID:37178278|PMID:37194601|PMID:37431535|PMID:37466024|PMID:37477868|PMID:37498360|PMID:37589201|PMID:37652022|PMID:37844837|PMID:37937776|PMID:38002985|PMID:38094187|PMID:38489124|PMID:38540378|PMID:38757491|PMID:38836037|PMID:397516074|PMID:3980194|PMID:40115818|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8898206|PMID:9048664|PMID:9241277|PMID:9395081|PMID:9488686|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:11499718|PMID:11499719|PMID:12110947|PMID:12974739|PMID:15000344|PMID:15519027|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16679492|PMID:16715312|PMID:16858239|PMID:17576681|PMID:18273486|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:18957093|PMID:19150014|PMID:19574547|PMID:19996403|PMID:20031602|PMID:20173211|PMID:20378854|PMID:20433692|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20738943|PMID:20800588|PMID:21310275|PMID:21409595|PMID:21750094|PMID:21835320|PMID:21890325|PMID:21959974|PMID:21985754|PMID:22112859|PMID:22267749|PMID:22455086|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23233322|PMID:23299917|PMID:23396983|PMID:23508784|PMID:23527136|PMID:23590259|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24793961|PMID:24888384|PMID:25031304|PMID:25210889|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25543971|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25892673|PMID:26271555|PMID:26654849|PMID:26656175|PMID:26914223|PMID:27108529|PMID:2732257|PMID:27483260|PMID:27532257|PMID:27590665|PMID:27600940|PMID:27650965|PMID:27885498|PMID:28138913|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28679633|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28986452|PMID:29021349|PMID:29121657|PMID:29447731|PMID:29661763|PMID:29709087|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30291343|PMID:30297972|PMID:30446606|PMID:30550750|PMID:30645170|PMID:30763825|PMID:30775854|PMID:30847666|PMID:31110529|PMID:31293105|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31941943|PMID:32163302|PMID:32228044|PMID:32369506|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32588587|PMID:32830170|PMID:32841044|PMID:33190526|PMID:33495596|PMID:33495597|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:33996946|PMID:34076677|PMID:34389451|PMID:34542152|PMID:34556856|PMID:34598319|PMID:34714385|PMID:35176171|PMID:35208637|PMID:35288587|PMID:35508642|PMID:35626289|PMID:35629155|PMID:35753512|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36578016|PMID:37178278|PMID:37652022|PMID:37904629|PMID:38002985|PMID:38489124|PMID:38540378|PMID:38642550|PMID:38757491|PMID:39160446|PMID:39260623|PMID:39472908|PMID:39486665|PMID:39633578|PMID:9241277|PMID:9536098|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110310	hypertrophic cardiomyopathy 4		ISO	RGD:1314284	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110310	hypertrophic cardiomyopathy 4		ISO	RGD:1314284	D	RGD:7240710	20130425	OMIM			
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110310	hypertrophic cardiomyopathy 4		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: MYBPC3-related condition	PMID:10424815|PMID:10521296|PMID:11499718|PMID:11499719|PMID:11748309|PMID:12110947|PMID:12601548|PMID:12707239|PMID:12788380|PMID:12818575|PMID:12881443|PMID:12951062|PMID:12974739|PMID:15000344|PMID:15114369|PMID:15166115|PMID:15358028|PMID:15519027|PMID:15856146|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16335287|PMID:16566405|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16858239|PMID:17263690|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17823372|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:18533079|PMID:18761664|PMID:18926831|PMID:18957093|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19574547|PMID:19659763|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20051424|PMID:20128375|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20433692|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20605413|PMID:20624503|PMID:20738943|PMID:20800588|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21488259|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21915287|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22429680|PMID:22455086|PMID:22763267|PMID:22765922|PMID:22820391|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:23054336|PMID:23140321|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23406853|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23590259|PMID:2367451|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23816408|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24327208|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25078086|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25228707|PMID:25326637|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25583989|PMID:25611685|PMID:25635128|PMID:25637381|PMID:25740977|PMID:25741868|PMID:25892673|PMID:26090888|PMID:26178432|PMID:26223264|PMID:26271555|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688388|PMID:26743238|PMID:26914223|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28518168|PMID:28566242|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28747690|PMID:28749478|PMID:28771489|PMID:28790153|PMID:28794111|PMID:2879709|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29121657|PMID:2921289|PMID:29247119|PMID:29300372|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29524613|PMID:29641836|PMID:29661763|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29758562|PMID:29759638|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30446606|PMID:30456444|PMID:30550750|PMID:30586709|PMID:30606897|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30674652|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110310	hypertrophic cardiomyopathy 4		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: MYBPC3-related condition	PMID:30959811|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31219556|PMID:31229680|PMID:31293105|PMID:31308319|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31729605|PMID:31730716|PMID:31737537|PMID:31771441|PMID:31877118|PMID:31918855|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32041989|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32250699|PMID:32344918|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32710830|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32841044|PMID:32880476|PMID:32973354|PMID:33029862|PMID:33190526|PMID:33258288|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33657327|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33781820|PMID:33782553|PMID:3378553|PMID:33892289|PMID:33954932|PMID:33996946|PMID:34008892|PMID:34051236|PMID:34076677|PMID:34087240|PMID:34097875|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34714385|PMID:34785479|PMID:34935411|PMID:35026164|PMID:35176171|PMID:35208637|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35508642|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35934244|PMID:36005429|PMID:36166435|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36788754|PMID:36980931|PMID:37089884|PMID:37178278|PMID:37352859|PMID:37445689|PMID:37466024|PMID:37652022|PMID:37821546|PMID:37904629|PMID:37929589|PMID:37937776|PMID:37949234|PMID:38002985|PMID:38104429|PMID:38254962|PMID:38456273|PMID:38489124|PMID:38540378|PMID:38549855|PMID:38586174|PMID:38642550|PMID:38757491|PMID:38999502|PMID:39001760|PMID:39125703|PMID:39160446|PMID:39260623|PMID:39355877|PMID:39456977|PMID:39472908|PMID:39486665|PMID:39554508|PMID:39581692|PMID:39633578|PMID:39684611|PMID:39769170|PMID:41175027|PMID:7352859|PMID:7493025|PMID:7493026|PMID:8655135|PMID:9048664|PMID:9218526|PMID:9536098|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110310	hypertrophic cardiomyopathy 4		ISS	RGD:1314285	D	RGD:13592920	20230718	MouseDO		OMIM:115197	
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:17560888|PMID:20474083|PMID:22763267|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24510615|PMID:24621997|PMID:24865491|PMID:25377941|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332594|PMID:26458567|PMID:26467025|PMID:28420666|PMID:28492532|PMID:28679633
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0110431	dilated cardiomyopathy 1I		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1I	PMID:11499719|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19574547|PMID:21409595|PMID:21985754|PMID:22455086|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25741868|PMID:25892673|PMID:26271555|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:28615295|PMID:29121657|PMID:30025578|PMID:30550750|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32841044|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34542152|PMID:34598319|PMID:35176171|PMID:38002985|PMID:38540378
1305950	Mybpc3	myosin binding protein C3	gene	DOID:0112072	nuclear type mitochondrial complex I deficiency 20		ISO	RGD:1314284	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20	PMID:11499718|PMID:12881443|PMID:12951062|PMID:15358028|PMID:15519027|PMID:15856146|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22455086|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29447731|PMID:30847666|PMID:30871747|PMID:31447099|PMID:33673806|PMID:35535697|PMID:8655135|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1314284	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	PMID:25741868
1305950	Mybpc3	myosin binding protein C3	gene	DOID:1059	intellectual disability		ISO	RGD:1314284	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073
1305950	Mybpc3	myosin binding protein C3	gene	DOID:1059	intellectual disability		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:2367451|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073|PMID:30456444|PMID:31447099|PMID:32686758|PMID:32841044|PMID:33258288|PMID:37652022
1305950	Mybpc3	myosin binding protein C3	gene	DOID:1115	sarcoma		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305950	Mybpc3	myosin binding protein C3	gene	DOID:11162	respiratory failure		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:16199547|PMID:19574547|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30297972|PMID:37652022
1305950	Mybpc3	myosin binding protein C3	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:2367451|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073|PMID:30456444|PMID:31447099|PMID:32686758|PMID:32841044|PMID:33258288|PMID:37652022
1305950	Mybpc3	myosin binding protein C3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:22076249|PMID:23816408|PMID:25566086|PMID:27994558
1305950	Mybpc3	myosin binding protein C3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:1580233|PMID:15737656	19990101	RGD		DNA:polymorphism:exon:18443A>G (human)	
1305950	Mybpc3	myosin binding protein C3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:1580235|PMID:15519027	19990101	RGD		DNA:mutations: :multiple	
1305950	Mybpc3	myosin binding protein C3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:10521296|PMID:10610770|PMID:10736283|PMID:11|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12110947|PMID:12202917|PMID:12386140|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15370892|PMID:15519027|PMID:15563892|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16799241|PMID:16858239|PMID:17263690|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17823372|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19237661|PMID:19273718|PMID:19356534|PMID:19406073|PMID:19543287|PMID:19574547|PMID:19659763|PMID:19763152|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20173211|PMID:2021|PMID:20215591|PMID:20307669|PMID:20359594|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20594303|PMID:20605413|PMID:20624503|PMID:20641121|PMID:20689143|PMID:20738943|PMID:20800588|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21425739|PMID:21472310|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21817903|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21896538|PMID:21915287|PMID:21943931|PMID:21959974|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22314326|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22406018|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22560514|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23233322|PMID:23277198|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23816408|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24530899|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25512492|PMID:25524337|PMID:25525159|PMID:25611685|PMID:25631583|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:25849606|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26223264|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26467025|PMID:26489474|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26914223|PMID:27005929|PMID:27066506|PMID:27066507|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27535533|PMID:27574918|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886
1305950	Mybpc3	myosin binding protein C3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28327871|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28694399|PMID:28704380|PMID:28747690|PMID:28749478|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28822653|PMID:28840316|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29219260|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29524613|PMID:29540472|PMID:29565423|PMID:29631964|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30086531|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30425207|PMID:30446606|PMID:30456444|PMID:30550750|PMID:30571196|PMID:30586709|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30924982|PMID:30959811|PMID:31006259|PMID:31110529|PMID:31112421|PMID:31199839|PMID:31219556|PMID:31229680|PMID:31293105|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31677916|PMID:31729605|PMID:31730716|PMID:31737537|PMID:31764239|PMID:31771441|PMID:31901299|PMID:31912959|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31983221|PMID:32009526|PMID:32034629|PMID:32041989|PMID:32183154|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32344918|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32451364|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32519640|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32710830|PMID:32731933|PMID:32746448|PMID:32764337|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32860008|PMID:32880476|PMID:33012304|PMID:33029862|PMID:33087929|PMID:33190517|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33586461|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33782553|PMID:3378553|PMID:33874732|PMID:33892289|PMID:33906374|PMID:33954932|PMID:33996946|PMID:34076677|PMID:34087240|PMID:34097875|PMID:34137518|PMID:34263907|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34556856|PMID:34601892|PMID:34680864|PMID:34694434|PMID:34714385|PMID:34785479|PMID:34819141|PMID:34935411|PMID:35026164|PMID:35176171|PMID:35199016|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35717150|PMID:35838873|PMID:35934244|PMID:35947370|PMID:36005429|PMID:36008935|PMID:36082122|PMID:36136372|PMID:36162733|PMID:36166435|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36357925|PMID:36370805|PMID:36474027|PMID:36481846|PMID:36578016|PMID:36788754|PMID:37002766|PMID:37089884|PMID:37194601|PMID:37342443|PMID:37466024|PMID:37477868|PMID:37589201|PMID:37652022|PMID:37750083|PMID:37797718|PMID:37821546|PMID:37844837|PMID:37904629|PMID:37937352|PMID:37937776|PMID:37949234|PMID:38002985|PMID:38008210|PMID:38042491|PMID:38104429|PMID:38254962|PMID:38259611|PMID:38456273|PMID:38489124|PMID:38642550|PMID:38691546|PMID:38757491|PMID:38811883|PMID:38836037|PMID:38895864|PMID:38938358|PMID:38999502|PMID:39001760|PMID:39125703
1305950	Mybpc3	myosin binding protein C3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:39160446|PMID:39260623|PMID:39272661|PMID:39472908|PMID:39481677|PMID:39486665|PMID:39554508|PMID:39633578|PMID:39684611|PMID:39895654|PMID:73|PMID:7493025|PMID:7493026|PMID:83|PMID:8533079|PMID:9048664|PMID:9218526|PMID:9241277|PMID:9536098|PMID:9541100|PMID:9541104|PMID:9562578|PMID:9742053
1305950	Mybpc3	myosin binding protein C3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:10521296|PMID:10610770|PMID:11|PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12386140|PMID:12386147|PMID:12566107|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:15000344|PMID:15114369|PMID:15166115|PMID:15370892|PMID:15519027|PMID:15563892|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16799241|PMID:16858239|PMID:17263690|PMID:17394878|PMID:17560888|PMID:17576681|PMID:17655857|PMID:17823372|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19237661|PMID:19406073|PMID:19543287|PMID:19574547|PMID:19659763|PMID:19763152|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20173211|PMID:2021|PMID:20215591|PMID:20307669|PMID:20359594|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20594303|PMID:20624503|PMID:20689143|PMID:20738943|PMID:20800588|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21239446|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21425739|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21817903|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21896538|PMID:21915287|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22267749|PMID:22314326|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22406018|PMID:22429680|PMID:22455086|PMID:22560514|PMID:22574137|PMID:22763267|PMID:22765922|PMID:22820391|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23233322|PMID:23277198|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23406853|PMID:23418438|PMID:23508784|PMID:23527136|PMID:23549607|PMID:23590259|PMID:2367451|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24530899|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25512492|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25611685|PMID:25634555|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25741891|PMID:2584960|PMID:25849606|PMID:25892673|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26223264|PMID:26271555|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26914223|PMID:27005929|PMID:27066506|PMID:27066507|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27840609|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28265379|PMID:28327871|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28450932|PMID:28492532|PMID:28518168|PMID:28611029
1305950	Mybpc3	myosin binding protein C3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28694399|PMID:28704380|PMID:28747690|PMID:28749478|PMID:28771489|PMID:28790153|PMID:28794111|PMID:2879709|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28822653|PMID:28840316|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29121657|PMID:29192238|PMID:2921289|PMID:29219260|PMID:29247119|PMID:29255176|PMID:29300372|PMID:29398688|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29524613|PMID:29565423|PMID:29631964|PMID:29661763|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29764897|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30009132|PMID:30025578|PMID:30086531|PMID:30105547|PMID:30165862|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30327538|PMID:30425207|PMID:30446606|PMID:30456444|PMID:30550750|PMID:30586709|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30924982|PMID:30959811|PMID:30984009|PMID:31006259|PMID:31110529|PMID:31219556|PMID:31229680|PMID:31293105|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31376648|PMID:31397097|PMID:31402444|PMID:31424582|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31677916|PMID:31729605|PMID:31730716|PMID:31737537|PMID:31764239|PMID:31771441|PMID:31912959|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31983221|PMID:32009526|PMID:32034629|PMID:32041989|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32250699|PMID:32344918|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32451163|PMID:32451364|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32519640|PMID:32588587|PMID:32600061|PMID:32659924|PMID:32686758|PMID:32710830|PMID:32731933|PMID:32746448|PMID:32764337|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32973354|PMID:33012304|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33190517|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33586461|PMID:33657327|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33732734|PMID:33781820|PMID:33782553|PMID:3378553|PMID:33831308|PMID:33892289|PMID:33906374|PMID:33954932|PMID:33996946|PMID:34051236|PMID:34076677|PMID:34087240|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34263907|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34461741|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34556856|PMID:34598319|PMID:34601892|PMID:34680864|PMID:34714385|PMID:34785479|PMID:34819141|PMID:34935411|PMID:35026164|PMID:35176171|PMID:35208637|PMID:35227736|PMID:35257994|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35508642|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35838873|PMID:35934244|PMID:35947370|PMID:36005429|PMID:36008935|PMID:36082122|PMID:36166435|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36357371|PMID:36357925|PMID:36370805|PMID:36481846|PMID:36578016|PMID:36788754|PMID:36980931|PMID:37002766|PMID:37089884|PMID:37178278|PMID:37342443|PMID:37466024|PMID:37589201|PMID:37652022|PMID:37750083|PMID:37797718|PMID:37821546|PMID:37904629|PMID:37937776|PMID:37949234|PMID:38002985|PMID:38008210|PMID:38042491|PMID:38104429|PMID:38254962|PMID:38456273|PMID:38473809|PMID:38489124|PMID:38540378|PMID:38586174|PMID:38642550|PMID:38691546|PMID:38757491|PMID:38811883|PMID:38895864|PMID:38999368|PMID:38999502|PMID:39001760|PMID:39125703|PMID:39160446|PMID:39260623|PMID:39272661|PMID:39355877|PMID:39472908|PMID:39486665|PMID:39514999|PMID:39554508|PMID:39633578|PMID:39684611|PMID:41128141|PMID:41175027|PMID:73|PMID:7493025|PMID:7493026|PMID:83|PMID:8533079|PMID:9048664|PMID:9218526|PMID:9241277|PMID:9536098|PMID:9541100|PMID:9541104|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:16199547|PMID:19574547|PMID:25741868|PMID:28492532
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30972196|PMID:31006259|PMID:31028938|PMID:32009526|PMID:9048664|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31447099|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32686758|PMID:9048664|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31447099|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32686758|PMID:33782553|PMID:34097875|PMID:9048664|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:9048664|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33495597|PMID:33500567|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15519027|PMID:1572569|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18533079|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:203962|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22464770|PMID:22563033|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24865491|PMID:25031304|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25524337|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:28214152|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30775854|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33190526|PMID:33241513|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34426522|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35265679|PMID:35411935|PMID:35581137|PMID:35581268|PMID:7493025|PMID:9048664|PMID:925171|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15519027|PMID:1572569|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18533079|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:203962|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22464770|PMID:22563033|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24865491|PMID:25031304|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25524337|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:28214152|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29758562|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30775854|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33190526|PMID:33241513|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34426522|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35265679|PMID:35411935|PMID:35581137|PMID:35581268|PMID:7493025|PMID:9048664|PMID:925171|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12566107|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:1572569|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:17823372|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:203962|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22464770|PMID:22563033|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24865491|PMID:25031304|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25524337|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26743238|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:28214152|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29758562|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30009132|PMID:30165862|PMID:30615648|PMID:30665703|PMID:30775854|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33190526|PMID:33241513|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34426522|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35265679|PMID:35411935|PMID:35581137|PMID:35581268|PMID:35629155|PMID:35653365|PMID:35838873|PMID:37652022|PMID:38094187|PMID:7493025|PMID:7493026|PMID:9048664|PMID:925171|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12566107|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:17823372|PMID:18533079|PMID:18761664|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22464770|PMID:22563033|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24865491|PMID:25031304|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25524337|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26743238|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:28214152|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29758562|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30009132|PMID:30165862|PMID:30615648|PMID:30665703|PMID:30775854|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33190526|PMID:33241513|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34426522|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35265679|PMID:35411935|PMID:35581137|PMID:35581268|PMID:35629155|PMID:35653365|PMID:35838873|PMID:36252119|PMID:37652022|PMID:38094187|PMID:38489124|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11499718|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12788380|PMID:12818575|PMID:12974739|PMID:15114369|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:18533079|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20045868|PMID:20215591|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21750094|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22337857|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23299917|PMID:23396983|PMID:23549607|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24111713|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26743238|PMID:26914223|PMID:27153395|PMID:27332903|PMID:27418595|PMID:27532257|PMID:27600940|PMID:27650965|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28971120|PMID:29247119|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30009132|PMID:30731207|PMID:30775854|PMID:31006259|PMID:31219556|PMID:31376648|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33087929|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:33892289|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34503678|PMID:34542152|PMID:34935411|PMID:35265679|PMID:35411935|PMID:35581268|PMID:35653365|PMID:36252119|PMID:37466024|PMID:37652022|PMID:38489124|PMID:39684611|PMID:39895654|PMID:7493025|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:11499718|PMID:11499719|PMID:12202917|PMID:12707239|PMID:12788380|PMID:15114369|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16715312|PMID:17560888|PMID:17823372|PMID:18533079|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19574547|PMID:20031618|PMID:20215591|PMID:20433692|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20624503|PMID:20800588|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22267749|PMID:22337857|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23549607|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24865491|PMID:25031304|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:2552433|PMID:25524337|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26743238|PMID:26914223|PMID:27194543|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27885498|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29247119|PMID:29758562|PMID:29875314|PMID:29875424|PMID:30009132|PMID:30165862|PMID:30731207|PMID:30775854|PMID:31006259|PMID:31028938|PMID:31376648|PMID:31737537|PMID:31983221|PMID:32731933|PMID:32841044|PMID:33087929|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:33892289|PMID:34310159|PMID:34400558|PMID:34426522|PMID:34503678|PMID:34542152|PMID:34935411|PMID:35027292|PMID:35265679|PMID:35411935|PMID:35581137|PMID:35581268|PMID:35653365|PMID:36252119|PMID:37466024|PMID:37652022|PMID:38094187|PMID:38254962|PMID:39684611|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:12788380|PMID:15114369|PMID:15519027|PMID:16004897|PMID:16715312|PMID:17560888|PMID:18533079|PMID:18957093|PMID:19574547|PMID:20031618|PMID:20215591|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20624503|PMID:20800588|PMID:21239446|PMID:21302287|PMID:21750094|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22337857|PMID:22763267|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23549607|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24865491|PMID:25132132|PMID:25351510|PMID:25377941|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26743238|PMID:26914223|PMID:27153395|PMID:27332903|PMID:27418595|PMID:27532257|PMID:27600940|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:29247119|PMID:29875424|PMID:29914921|PMID:30009132|PMID:30731207|PMID:30775854|PMID:31006259|PMID:31219556|PMID:31376648|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32250699|PMID:32731933|PMID:32841044|PMID:33087929|PMID:33495596|PMID:33495597|PMID:33782553|PMID:33892289|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34503678|PMID:34542152|PMID:34935411|PMID:35265679|PMID:35653365|PMID:36252119|PMID:37466024|PMID:37652022|PMID:38254962|PMID:39684611|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:1324	lung cancer		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305950	Mybpc3	myosin binding protein C3	gene	DOID:1826	epilepsy		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:12788380|PMID:19574547|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30442288|PMID:30731207|PMID:37652022
1305950	Mybpc3	myosin binding protein C3	gene	DOID:1909	melanoma		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305950	Mybpc3	myosin binding protein C3	gene	DOID:2843	long QT syndrome		ISO	RGD:1314284	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:22429680|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28492532|PMID:28679633|PMID:28771489|PMID:30297972|PMID:32746448|PMID:33673806
1305950	Mybpc3	myosin binding protein C3	gene	DOID:2843	long QT syndrome		ISO	RGD:1314284	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19632136|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21750094|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28138913|PMID:28492532|PMID:28679633|PMID:28771489|PMID:29255176|PMID:29853478|PMID:30297972|PMID:30847666|PMID:31323898|PMID:32746448|PMID:32841044|PMID:33495597|PMID:33673806|PMID:33782553
1305950	Mybpc3	myosin binding protein C3	gene	DOID:2843	long QT syndrome		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:22429680|PMID:23140321|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25342278|PMID:25524337|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28138913|PMID:28166811|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30025578|PMID:30297972|PMID:31110529|PMID:32163302|PMID:32396390|PMID:32746448|PMID:33495596|PMID:33673806|PMID:33996946|PMID:34076677|PMID:34714385|PMID:35626289|PMID:35653365|PMID:37652022|PMID:37937776|PMID:38002985|PMID:39160446|PMID:39486665
1305950	Mybpc3	myosin binding protein C3	gene	DOID:3082	interstitial lung disease		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Interstitial pneumonitis	PMID:11499718|PMID:15519027|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29300372|PMID:29447731|PMID:29907873|PMID:30696458|PMID:30871747|PMID:32746448|PMID:32841044|PMID:33407484|PMID:33782553|PMID:34400558|PMID:35535697|PMID:35626289|PMID:36252119|PMID:36357371|PMID:38104429|PMID:38254962|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39554508|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:3459	breast carcinoma		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:16181148|PMID:16199547|PMID:17263690|PMID:19149795|PMID:19574547|PMID:20975235|PMID:25525159|PMID:25741868|PMID:28420666|PMID:28492532|PMID:30105547
1305950	Mybpc3	myosin binding protein C3	gene	DOID:3650	lactic acidosis		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:12788380|PMID:19574547|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30731207
1305950	Mybpc3	myosin binding protein C3	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1314284	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:16858239|PMID:17192269|PMID:18533079|PMID:19150014|PMID:20031602|PMID:20173211|PMID:20414521|PMID:20624503|PMID:21415409|PMID:21750094|PMID:21835320|PMID:22765922|PMID:23233322|PMID:23299917|PMID:23508784|PMID:23690394|PMID:24033266|PMID:24093860|PMID:24793961|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:25971843|PMID:26090888|PMID:27108529|PMID:27267291|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28420666|PMID:28492532|PMID:28518168|PMID:28798025|PMID:28986452|PMID:30297972|PMID:30446606|PMID:30645170|PMID:30731207|PMID:30871747|PMID:30972196|PMID:31941943|PMID:32228044|PMID:32233023|PMID:32369506|PMID:32841044|PMID:35470680|PMID:36252119|PMID:36264615|PMID:36291626|PMID:37431535|PMID:37652022
1305950	Mybpc3	myosin binding protein C3	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532|PMID:32233023
1305950	Mybpc3	myosin binding protein C3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314284	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:21239446|PMID:24033266|PMID:25740977|PMID:25741868|PMID:26467025|PMID:28492532
1305950	Mybpc3	myosin binding protein C3	gene	DOID:6000	congestive heart failure		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure	PMID:11499719|PMID:12110947|PMID:15000344|PMID:16141195|PMID:16858239|PMID:18273486|PMID:19574547|PMID:20031618|PMID:20173211|PMID:20359594|PMID:21302287|PMID:21835320|PMID:22267749|PMID:22857948|PMID:23590259|PMID:23674513|PMID:23782526|PMID:24033266|PMID:24704860|PMID:24888384|PMID:25524337|PMID:25611685|PMID:25740977|PMID:25741868|PMID:26656175|PMID:26688388|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28679633|PMID:28790153|PMID:28797094|PMID:29121657|PMID:29710196|PMID:29875424|PMID:30297972|PMID:30550750|PMID:30775854|PMID:32163302|PMID:32228044|PMID:32451163|PMID:32481709|PMID:32841044|PMID:33673806|PMID:33782553|PMID:34556856|PMID:35508642|PMID:36166435|PMID:37178278|PMID:37652022
1305950	Mybpc3	myosin binding protein C3	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1314284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:19150014|PMID:22765922|PMID:25741868|PMID:27930701|PMID:28356264|PMID:28492532|PMID:32917565|PMID:33919104|PMID:35629155|PMID:35885957
1305950	Mybpc3	myosin binding protein C3	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:12788380|PMID:19574547|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30731207
1305950	Mybpc3	myosin binding protein C3	gene	DOID:784	chronic kidney disease		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:11499718|PMID:15519027|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29300372|PMID:29447731|PMID:29907873|PMID:30696458|PMID:30871747|PMID:32746448|PMID:32841044|PMID:33407484|PMID:33782553|PMID:34400558|PMID:35535697|PMID:35626289|PMID:36252119|PMID:36357371|PMID:38104429|PMID:38254962|PMID:38999502|PMID:39125703|PMID:39160446|PMID:39554508|PMID:9562578
1305950	Mybpc3	myosin binding protein C3	gene	DOID:870	neuropathy		ISO	RGD:1314284	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9000006	Supraventricular Tachycardia		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Supraventricular tachycardia	PMID:25741868|PMID:28492532
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:11499719|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19574547|PMID:21409595|PMID:21985754|PMID:22455086|PMID:22958901|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25351510|PMID:25741868|PMID:25892673|PMID:26271555|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:28615295|PMID:29121657|PMID:30025578|PMID:30550750|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32841044|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34542152|PMID:34598319|PMID:35176171|PMID:37652022|PMID:38002985|PMID:38540378
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1314284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:22958901|PMID:24510615|PMID:25637381|PMID:25741868|PMID:27332903|PMID:28492532|PMID:28790153|PMID:29247119|PMID:34935411|PMID:36252119|PMID:37652022
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation	PMID:11499719|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19574547|PMID:21409595|PMID:21985754|PMID:22455086|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25741868|PMID:25892673|PMID:26271555|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:28615295|PMID:29121657|PMID:30025578|PMID:30550750|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32841044|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34542152|PMID:34598319|PMID:35176171|PMID:38002985|PMID:38540378
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:11499719|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:18258667|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19574547|PMID:20624503|PMID:20800588|PMID:21409595|PMID:21959974|PMID:21985754|PMID:22455086|PMID:22958901|PMID:23299917|PMID:24093860|PMID:24111713|PMID:24510615|PMID:25031304|PMID:25132132|PMID:25351510|PMID:25637381|PMID:25741868|PMID:25892673|PMID:26271555|PMID:26633542|PMID:27532257|PMID:27600940|PMID:27885498|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29875424|PMID:30025578|PMID:30550750|PMID:30611859|PMID:30775854|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32841044|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:35176171|PMID:35653365|PMID:37652022|PMID:38002985|PMID:38540378
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9000596	Isolated Noncompaction of the Ventricular Myocardium		ISO	RGD:1314284	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium	PMID:25741868|PMID:27532257|PMID:31513939|PMID:36264615
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9000727	Syncope		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:17394878|PMID:19574547|PMID:20624503|PMID:20800588|PMID:21896538|PMID:24033266|PMID:24111713|PMID:25741868|PMID:28138913|PMID:28492532|PMID:28640247|PMID:28971120|PMID:32841044|PMID:35653365|PMID:37652022
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:16199547|PMID:19574547|PMID:20215591|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25525159|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28193612|PMID:28492532
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocardial fibrosis	PMID:16199547|PMID:19574547|PMID:20215591|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25525159|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28193612|PMID:28492532
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9003674	Chest Pain		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chest pain	PMID:17576681|PMID:25351510|PMID:25741868|PMID:28492532|PMID:34461741|PMID:39472908|PMID:9536098
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1314284	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22189562
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:11499719|PMID:12110947|PMID:12974739|PMID:15000344|PMID:15519027|PMID:16141195|PMID:16199542|PMID:16715312|PMID:16754800|PMID:17394878|PMID:18273486|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18957093|PMID:19574547|PMID:19996403|PMID:20051424|PMID:20215591|PMID:20624503|PMID:20800588|PMID:21297165|PMID:21409595|PMID:21415409|PMID:21551322|PMID:21896538|PMID:21985754|PMID:22173300|PMID:22267749|PMID:22337857|PMID:22455086|PMID:22857948|PMID:23299917|PMID:23396983|PMID:23590259|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24774605|PMID:24774606|PMID:24795128|PMID:24888384|PMID:25031304|PMID:25335496|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25892673|PMID:26223264|PMID:26271555|PMID:26467025|PMID:27066506|PMID:27435932|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28138913|PMID:28254189|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28640247|PMID:28679633|PMID:28790153|PMID:28797094|PMID:28971120|PMID:29121657|PMID:29686099|PMID:30025578|PMID:30297972|PMID:30550750|PMID:30775854|PMID:30847666|PMID:31006259|PMID:31110529|PMID:31513939|PMID:31737537|PMID:31771441|PMID:32163302|PMID:32396390|PMID:32451163|PMID:32841044|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33996946|PMID:34076677|PMID:34542152|PMID:34598319|PMID:34714385|PMID:35176171|PMID:35508642|PMID:35626289|PMID:35653365|PMID:37178278|PMID:37652022|PMID:38002985|PMID:38540378|PMID:39160446|PMID:39486665
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:11499719|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19574547|PMID:21409595|PMID:21985754|PMID:22455086|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25741868|PMID:25892673|PMID:26271555|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:28615295|PMID:29121657|PMID:30025578|PMID:30550750|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32841044|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34542152|PMID:34598319|PMID:35176171|PMID:38002985|PMID:38540378
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1314284	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25566086
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:24033266|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:35027292|PMID:37652022
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:11499719|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19574547|PMID:21409595|PMID:21985754|PMID:22455086|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25741868|PMID:25892673|PMID:26271555|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:28615295|PMID:29121657|PMID:30025578|PMID:30550750|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32841044|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34542152|PMID:34598319|PMID:35176171|PMID:38002985|PMID:38540378
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9007820	Sudden Death		ISO	RGD:1314284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sudden death | ClinVar Annotator: match by term: Sudden unexplained death	PMID:15519027|PMID:16754800|PMID:18761664|PMID:20051424|PMID:20215591|PMID:21297165|PMID:21415409|PMID:21551322|PMID:22173300|PMID:22337857|PMID:22958901|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24503780|PMID:24774605|PMID:24774606|PMID:24793961|PMID:24795128|PMID:25335496|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26223264|PMID:26467025|PMID:27066506|PMID:27435932|PMID:27532257|PMID:27576561|PMID:28356264|PMID:28492532|PMID:28518168|PMID:28640247|PMID:28790153|PMID:29686099|PMID:31006259|PMID:31771441|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9007923	Back Pain		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Back pain	PMID:17576681|PMID:25351510|PMID:25741868|PMID:28492532|PMID:34461741|PMID:39472908|PMID:9536098
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:1314284	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20435227
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden cardiac death	PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9008385	Vomiting		ISO	RGD:1314284	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:15519027|PMID:19574547|PMID:21959974|PMID:25741868|PMID:28492532|PMID:28640247|PMID:30550750
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9477	pulmonary embolism		ISO	RGD:1314284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism	PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022
1305950	Mybpc3	myosin binding protein C3	gene	DOID:9997	peripartum cardiomyopathy		ISO	RGD:1314284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Peripartum cardiomyopathy	PMID:21750094|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31983221|PMID:38254962
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314286	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:1909	melanoma		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:3275	thymoma		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314286	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314286	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305951	Iqgap3	IQ motif containing GTPase activating protein 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1314286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305952	Sh2d5	SH2 domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305952	Sh2d5	SH2 domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1602949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305952	Sh2d5	SH2 domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1602949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305952	Sh2d5	SH2 domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1602949	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305952	Sh2d5	SH2 domain containing 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305952	Sh2d5	SH2 domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305955	Pop4	POP4 ribonuclease P/MRP subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305955	Pop4	POP4 ribonuclease P/MRP subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305955	Pop4	POP4 ribonuclease P/MRP subunit	gene	DOID:1115	sarcoma		ISO	RGD:1314291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305955	Pop4	POP4 ribonuclease P/MRP subunit	gene	DOID:3275	thymoma		ISO	RGD:1314291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305955	Pop4	POP4 ribonuclease P/MRP subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1314291	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305955	Pop4	POP4 ribonuclease P/MRP subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305955	Pop4	POP4 ribonuclease P/MRP subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314291	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305955	Pop4	POP4 ribonuclease P/MRP subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305955	Pop4	POP4 ribonuclease P/MRP subunit	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1314291	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
1305955	Pop4	POP4 ribonuclease P/MRP subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305955	Pop4	POP4 ribonuclease P/MRP subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305955	Pop4	POP4 ribonuclease P/MRP subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305956	Tdrd6	tudor domain containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305956	Tdrd6	tudor domain containing 6	gene	DOID:12336	male infertility		ISO	RGD:1314293	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Male infertility	
1305956	Tdrd6	tudor domain containing 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305956	Tdrd6	tudor domain containing 6	gene	DOID:2843	long QT syndrome		ISO	RGD:1314293	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1305956	Tdrd6	tudor domain containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1314293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305956	Tdrd6	tudor domain containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305956	Tdrd6	tudor domain containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1314293	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305956	Tdrd6	tudor domain containing 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314293	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1346409	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1346409	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:10534	stomach cancer		ISO	RGD:1346409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:1059	intellectual disability		ISO	RGD:1346409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1346409	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Parkinson disease	PMID:23686771|PMID:25741868|PMID:26595808|PMID:28492532
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:1826	epilepsy		ISO	RGD:1346409	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Infantile epilepsy | ClinVar Annotator: match by term: Seizure	PMID:23686771|PMID:25741868|PMID:26595808|PMID:28492532
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1346409	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:1909	melanoma		ISO	RGD:1346409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346409	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1346409	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305957	Tnk2	tyrosine kinase, non-receptor, 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305958	Mtmr10	myotubularin related protein 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305958	Mtmr10	myotubularin related protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305958	Mtmr10	myotubularin related protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1606536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305958	Mtmr10	myotubularin related protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305958	Mtmr10	myotubularin related protein 10	gene	DOID:1324	lung cancer		ISO	RGD:1606536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305958	Mtmr10	myotubularin related protein 10	gene	DOID:1909	melanoma		ISO	RGD:1606536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305958	Mtmr10	myotubularin related protein 10	gene	DOID:3275	thymoma		ISO	RGD:1606536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305958	Mtmr10	myotubularin related protein 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305958	Mtmr10	myotubularin related protein 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305958	Mtmr10	myotubularin related protein 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305958	Mtmr10	myotubularin related protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1606536	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305958	Mtmr10	myotubularin related protein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305958	Mtmr10	myotubularin related protein 10	gene	DOID:9256	colorectal cancer		ISO	RGD:156445699	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532
1305959	Mesp2	mesoderm posterior bHLH transcription factor 2	gene	DOID:0112362	spondylocostal dysostosis 2		ISO	RGD:1606451	D	RGD:7240710	20130221	OMIM			
1305959	Mesp2	mesoderm posterior bHLH transcription factor 2	gene	DOID:0112362	spondylocostal dysostosis 2		ISO	RGD:1606451	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MESP2-related condition | ClinVar Annotator: match by term: SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive | ClinVar Annotator: match by term: Spondylocostal dysostosis type 2	PMID:18485326|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32238941|PMID:32572506|PMID:33089894|PMID:36653407|PMID:9242490
1305959	Mesp2	mesoderm posterior bHLH transcription factor 2	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1606451	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Spondylothoracic Dysostosis	PMID:25741868|PMID:28492532
1305959	Mesp2	mesoderm posterior bHLH transcription factor 2	gene	DOID:0112365	spondylocostal dysostosis 1		ISO	RGD:1606451	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive | ClinVar Annotator: match by term: Spondylothoracic Dysostosis	PMID:25741868|PMID:28492532
1305959	Mesp2	mesoderm posterior bHLH transcription factor 2	gene	DOID:630	genetic disease		ISO	RGD:1606451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1305959	Mesp2	mesoderm posterior bHLH transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305959	Mesp2	mesoderm posterior bHLH transcription factor 2	gene	DOID:9006006	Spondylocostal Dysostosis, Autosomal Recessive		ISO	RGD:1606451	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1305960	Txndc12	thioredoxin domain containing 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305960	Txndc12	thioredoxin domain containing 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305960	Txndc12	thioredoxin domain containing 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305960	Txndc12	thioredoxin domain containing 12	gene	DOID:3070	high grade glioma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305960	Txndc12	thioredoxin domain containing 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305960	Txndc12	thioredoxin domain containing 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1606291	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305960	Txndc12	thioredoxin domain containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305960	Txndc12	thioredoxin domain containing 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305960	Txndc12	thioredoxin domain containing 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305961	Cyria	CYFIP related Rac1 interactor A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305961	Cyria	CYFIP related Rac1 interactor A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305961	Cyria	CYFIP related Rac1 interactor A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305961	Cyria	CYFIP related Rac1 interactor A	gene	DOID:1115	sarcoma		ISO	RGD:1348694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305961	Cyria	CYFIP related Rac1 interactor A	gene	DOID:4362	cervical cancer		ISO	RGD:1348694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305961	Cyria	CYFIP related Rac1 interactor A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305961	Cyria	CYFIP related Rac1 interactor A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305961	Cyria	CYFIP related Rac1 interactor A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348694	D	RGD:11554173	20200331	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305961	Cyria	CYFIP related Rac1 interactor A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305961	Cyria	CYFIP related Rac1 interactor A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305962	Plxdc2	plexin domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305962	Plxdc2	plexin domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1314300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305962	Plxdc2	plexin domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1314300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305962	Plxdc2	plexin domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305962	Plxdc2	plexin domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1314300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305962	Plxdc2	plexin domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305962	Plxdc2	plexin domain containing 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1305962	Plxdc2	plexin domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314300	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305962	Plxdc2	plexin domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305962	Plxdc2	plexin domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305962	Plxdc2	plexin domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305962	Plxdc2	plexin domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305962	Plxdc2	plexin domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305963	Zbtb7b	zinc finger and BTB domain containing 7B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305963	Zbtb7b	zinc finger and BTB domain containing 7B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305963	Zbtb7b	zinc finger and BTB domain containing 7B	gene	DOID:3070	high grade glioma		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305963	Zbtb7b	zinc finger and BTB domain containing 7B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314302	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305963	Zbtb7b	zinc finger and BTB domain containing 7B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305963	Zbtb7b	zinc finger and BTB domain containing 7B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305963	Zbtb7b	zinc finger and BTB domain containing 7B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305963	Zbtb7b	zinc finger and BTB domain containing 7B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305963	Zbtb7b	zinc finger and BTB domain containing 7B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305963	Zbtb7b	zinc finger and BTB domain containing 7B	gene	DOID:9970	obesity		ISO	RGD:1314302	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:29273807
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:27640307|PMID:28158749|PMID:28549128|PMID:29053797|PMID:31019026|PMID:33146414
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:0080918	polymicrogyria		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:0081395	Harel-Yoon syndrome		ISO	RGD:1314304	D	RGD:7240710	20190315	OMIM			
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:0081395	Harel-Yoon syndrome		ISO	RGD:1314304	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ATAD3A-related condition | ClinVar Annotator: match by term: Harel-Yoon Syndrome | ClinVar Annotator: match by term: Harel-Yoon syndrome	PMID:25741868|PMID:27640307|PMID:28158749|PMID:28549128|PMID:29053797|PMID:31019026|PMID:31727539|PMID:32004445|PMID:33146414
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:0081396	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome		ISO	RGD:1314304	D	RGD:7240710	20200819	OMIM			
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:0081396	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome		ISO	RGD:1314304	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PHRINL SYNDROME | ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	PMID:25741868|PMID:31727539
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:10534	stomach cancer		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:1059	intellectual disability		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:33023636
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:1115	sarcoma		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:12849	autistic disorder		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:1573	communicating hydrocephalus		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Communicating hydrocephalus	PMID:33023636
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:1826	epilepsy		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:5041	esophageal cancer		ISO	RGD:1314304	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:5723	optic atrophy		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:27640307|PMID:28158749|PMID:28549128|PMID:29053797|PMID:31019026|PMID:33146414
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:594	panic disorder		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Panic attack	PMID:25741868
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:630	genetic disease		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:33023636
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:83	cataract		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:870	neuropathy		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:27640307|PMID:28158749|PMID:28549128|PMID:29053797|PMID:31019026|PMID:33146414
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21584487
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:33023636
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9003507	Premature Birth		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:33023636
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:33023636
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9004327	Colpocephaly		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9004538	Hearing Loss		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:33023636
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9006637	Schizencephaly		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizencephaly	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9007817	Macroglossia		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:33023636
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: global developmental delay	PMID:25741868|PMID:27640307|PMID:28158749|PMID:28549128|PMID:29053797|PMID:31019026|PMID:33023636|PMID:33146414
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9351	diabetes mellitus		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	
1305964	Atad3a	ATPase family, AAA domain containing 3A	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1314304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1305965	Nck2	NCK adaptor protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305965	Nck2	NCK adaptor protein 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1314306	D	RGD:11554173	20210413	CTD		CTD Direct Evidence: marker/mechanism	PMID:33589840
1305965	Nck2	NCK adaptor protein 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1314306	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
1305965	Nck2	NCK adaptor protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305965	Nck2	NCK adaptor protein 2	gene	DOID:576	proteinuria		ISO	RGD:1314306	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
1305965	Nck2	NCK adaptor protein 2	gene	DOID:9001542	Albuminuria		ISO	RGD:1314306	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
1305965	Nck2	NCK adaptor protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305966	Klf16	KLF transcription factor 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305966	Klf16	KLF transcription factor 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305967	Cux2	cut-like homeobox 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1314310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	
1305967	Cux2	cut-like homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305967	Cux2	cut-like homeobox 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314310	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1305967	Cux2	cut-like homeobox 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1314310	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: developmental and epileptic encephalopathy	PMID:25741868
1305967	Cux2	cut-like homeobox 2	gene	DOID:0112203	developmental and epileptic encephalopathy 67		ISO	RGD:1314310	D	RGD:7240710	20190315	OMIM			
1305967	Cux2	cut-like homeobox 2	gene	DOID:0112203	developmental and epileptic encephalopathy 67		ISO	RGD:1314310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CUX2-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67	PMID:25363760|PMID:25741868|PMID:28492532|PMID:29630738|PMID:29795476|PMID:30559488
1305967	Cux2	cut-like homeobox 2	gene	DOID:1059	intellectual disability		ISO	RGD:1314310	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1305967	Cux2	cut-like homeobox 2	gene	DOID:1115	sarcoma		ISO	RGD:1314310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305967	Cux2	cut-like homeobox 2	gene	DOID:1324	lung cancer		ISO	RGD:1314310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305967	Cux2	cut-like homeobox 2	gene	DOID:14681	Silver-Russell syndrome		ISO	RGD:1314310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Russell-Silver syndrome	
1305967	Cux2	cut-like homeobox 2	gene	DOID:3275	thymoma		ISO	RGD:1314310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305967	Cux2	cut-like homeobox 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305967	Cux2	cut-like homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305967	Cux2	cut-like homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1314310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1305967	Cux2	cut-like homeobox 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305967	Cux2	cut-like homeobox 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305968	Chmp5	charged multivesicular body protein 5	gene	DOID:0080600	COVID-19		ISO	RGD:1314312	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1305968	Chmp5	charged multivesicular body protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305968	Chmp5	charged multivesicular body protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1314312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305968	Chmp5	charged multivesicular body protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1314312	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305968	Chmp5	charged multivesicular body protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305968	Chmp5	charged multivesicular body protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314312	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17708794
1305969	Vps4b	vacuolar protein sorting 4 homolog B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305969	Vps4b	vacuolar protein sorting 4 homolog B	gene	DOID:0070705	dentin dysplasia type IB		ISO	RGD:1314314	D	RGD:7240710	20260603	OMIM			
1305969	Vps4b	vacuolar protein sorting 4 homolog B	gene	DOID:0070705	dentin dysplasia type IB		ISO	RGD:1314314	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dentin dysplasia, type IB	
1305969	Vps4b	vacuolar protein sorting 4 homolog B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305969	Vps4b	vacuolar protein sorting 4 homolog B	gene	DOID:1324	lung cancer		ISO	RGD:1314314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305969	Vps4b	vacuolar protein sorting 4 homolog B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305969	Vps4b	vacuolar protein sorting 4 homolog B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305970	Cd68	Cd68 molecule	gene	DOID:0050523	adult T-cell leukemia/lymphoma	disease_progression	ISO	RGD:1314316	D	RGD:42721976|PMID:23557330	20210225	RGD		protein:increased expression:lymph node tumor (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1314316	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
1305970	Cd68	Cd68 molecule	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	IEP		D	RGD:407424596|PMID:23277536	20240730	RGD			
1305970	Cd68	Cd68 molecule	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	IEP		D	RGD:407424599|PMID:29399060	20240731	RGD			
1305970	Cd68	Cd68 molecule	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1314316	D	RGD:407420270|PMID:21635548	20240729	RGD		protein:increased expression:blood serum (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	disease_progression	IEP		D	RGD:407420265|PMID:28951310	20240726	RGD		protein:increased expression:liver (rat)	
1305970	Cd68	Cd68 molecule	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	disease_progression	ISO	RGD:1314317	D	RGD:407446378|PMID:24294355	20240830	RGD		protein:increased expression:liver (mouse)	
1305970	Cd68	Cd68 molecule	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	severity	ISO	RGD:1314316	D	RGD:407446377|PMID:31337151	20240830	RGD		protein:decreased expression:liver (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:0080600	COVID-19		ISO	RGD:1314316	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:dendritic cells (human)	PMID:32377375|REF_RGD_ID:32716422
1305970	Cd68	Cd68 molecule	gene	DOID:10533	viral pneumonia		ISO	RGD:1314317	D	RGD:40925942|PMID:12581500	20210125	RGD		mRNA:increased expression:lung,trachea (mouse)	
1305970	Cd68	Cd68 molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305970	Cd68	Cd68 molecule	gene	DOID:11429	endometriosis of pelvic peritoneum		ISO	RGD:1314316	D	RGD:40925932|PMID:19136478	20210122	RGD		protein:increased expression:peritoneum (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:12236	primary biliary cholangitis	disease_progression	ISO	RGD:1314316	D	RGD:407420272|PMID:21275501	20240730	RGD		protein:increased expression:liver (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:12365	malaria		ISO	RGD:1314316	D	RGD:11554173	20251104	CTD		CTD Direct Evidence: marker/mechanism	PMID:26216124
1305970	Cd68	Cd68 molecule	gene	DOID:13254	diverticulitis of colon	severity	ISO	RGD:1314316	D	RGD:40925945|PMID:21553154	20210125	RGD		associated with steroid use;protein:increased expression:sigmoid colon (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:1314316	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
1305970	Cd68	Cd68 molecule	gene	DOID:2018	hyperinsulinism		ISO	RGD:1314316	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
1305970	Cd68	Cd68 molecule	gene	DOID:2043	hepatitis B		ISO	RGD:1314316	D	RGD:40925917|PMID:9699943	20210121	RGD		associated with inflammation;protein:increased expression:liver (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305970	Cd68	Cd68 molecule	gene	DOID:2938	Epstein-Barr virus infectious disease		ISO	RGD:1314316	D	RGD:40925915|PMID:21602260	20210121	RGD		associated with Hodgkin's Lymphoma;protein:increased expression:tumor (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:2938	Epstein-Barr virus infectious disease	severity	ISO	RGD:1314316	D	RGD:40925944|PMID:21071500	20210125	RGD		associated with Hodgkin's Lymphoma;protein:increased expression:tumor(human)	
1305970	Cd68	Cd68 molecule	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1314316	D	RGD:27372876|PMID:16237152	20200604	RGD		protein:increased expression:macrophage, testis (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1314316	D	RGD:5490168|PMID:19635508	20200527	RGD		mRNA, protein:increased expression:lung (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:326	ischemia		ISO	RGD:1314316	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19458120
1305970	Cd68	Cd68 molecule	gene	DOID:3965	Merkel cell carcinoma		ISO	RGD:1314316	D	RGD:40925916|PMID:22050913	20210121	RGD		protein:increased expression:tumor (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305970	Cd68	Cd68 molecule	gene	DOID:526	human immunodeficiency virus infectious disease	disease_progression	ISO	RGD:1314316	D	RGD:41404655|PMID:22797933	20210129	RGD		associated with opioid use;protein:increased expression:brain (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:552	pneumonia	treatment	IEP		D	RGD:736802361|PMID:24790141	20260728	RGD			
1305970	Cd68	Cd68 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305970	Cd68	Cd68 molecule	gene	DOID:635	acquired immunodeficiency syndrome		ISO	RGD:1314316	D	RGD:407420271|PMID:16873198	20240729	RGD		associated with drug dependence; protein:increased expression:temporal lobe (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1314316	D	RGD:40924686|PMID:28656201	20210120	RGD		protein:increased expression:liver (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:783	end stage renal disease		ISO	RGD:1314316	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19539174
1305970	Cd68	Cd68 molecule	gene	DOID:8567	Hodgkin's lymphoma	severity	ISO	RGD:1314316	D	RGD:40925944|PMID:21071500	20210125	RGD		associated with Epstein-Barr Virus Infections;protein:increased expression:tumor(human)	
1305970	Cd68	Cd68 molecule	gene	DOID:8567	Hodgkin's lymphoma	severity	ISO	RGD:1314316	D	RGD:40925946|PMID:23045593	20210125	RGD		protein:increased expression:tumor (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:1314317	D	RGD:40925931|PMID:25004394	20210122	RGD			
1305970	Cd68	Cd68 molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314316	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305970	Cd68	Cd68 molecule	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1314316	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1305970	Cd68	Cd68 molecule	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1314316	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20388520
1305970	Cd68	Cd68 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305970	Cd68	Cd68 molecule	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1314316	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
1305970	Cd68	Cd68 molecule	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1314316	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19732956
1305970	Cd68	Cd68 molecule	gene	DOID:9009105	HIV Encephalitis		ISO	RGD:1314316	D	RGD:40925943|PMID:15488024	20210125	RGD		protein:increased expression:brain (human)	
1305970	Cd68	Cd68 molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305970	Cd68	Cd68 molecule	gene	DOID:9970	obesity		ISO	RGD:1314316	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
1305971	Lsm3	LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305971	Lsm3	LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305972	Rnf167	ring finger protein 167	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305972	Rnf167	ring finger protein 167	gene	DOID:1324	lung cancer		ISO	RGD:1348849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305972	Rnf167	ring finger protein 167	gene	DOID:14365	systemic primary carnitine deficiency disease		ISO	RGD:1348849	D	RGD:8554872	20170307	ClinVar		ClinVar Annotator: match by term: Renal carnitine transport defect	
1305972	Rnf167	ring finger protein 167	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305972	Rnf167	ring finger protein 167	gene	DOID:3070	high grade glioma		ISO	RGD:1348849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305972	Rnf167	ring finger protein 167	gene	DOID:5041	esophageal cancer		ISO	RGD:1348849	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305972	Rnf167	ring finger protein 167	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305972	Rnf167	ring finger protein 167	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305972	Rnf167	ring finger protein 167	gene	DOID:9003566	Mesothelioma		ISO	RGD:1348849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1305972	Rnf167	ring finger protein 167	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305972	Rnf167	ring finger protein 167	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305973	Sectm1a	secreted and transmembrane 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305973	Sectm1a	secreted and transmembrane 1A	gene	DOID:3275	thymoma		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305973	Sectm1a	secreted and transmembrane 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305973	Sectm1a	secreted and transmembrane 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305973	Sectm1a	secreted and transmembrane 1A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1305973	Sectm1a	secreted and transmembrane 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305973	Sectm1a	secreted and transmembrane 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305973	Sectm1a	secreted and transmembrane 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305973	Sectm1a	secreted and transmembrane 1A	gene	DOID:9256	colorectal cancer		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305974	Cers1	ceramide synthase 1	gene	DOID:0050753	cerebellar ataxia	treatment	ISO	RGD:1622181	D	RGD:156431058|PMID:21625621	20230302	RGD			
1305974	Cers1	ceramide synthase 1	gene	DOID:0050866	oral squamous cell carcinoma	exacerbates	ISO	RGD:1622181	D	RGD:156431057|PMID:33753723	20230302	RGD			
1305974	Cers1	ceramide synthase 1	gene	DOID:0111451	progressive myoclonus epilepsy 8		ISO	RGD:1314323	D	RGD:7240710	20150408	OMIM			
1305974	Cers1	ceramide synthase 1	gene	DOID:11088	asphyxia neonatorum		IEP		D	RGD:156431056|PMID:23625371	20230302	RGD			
1305974	Cers1	ceramide synthase 1	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1314323	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1305974	Cers1	ceramide synthase 1	gene	DOID:9007692	Insulin Resistance	ameliorates	ISO	RGD:1622181	D	RGD:156431060|PMID:30605666	20230302	RGD			
1305974	Cers1	ceramide synthase 1	gene	DOID:9970	obesity		ISO	RGD:1622181	D	RGD:156431060|PMID:30605666	20230302	RGD		mRNA:increased expression:skeletal muscle cell	
1305975	Bola3	bolA family member 3	gene	DOID:0080134	multiple mitochondrial dysfunctions syndrome 2		ISO	RGD:1606380	D	RGD:7240710	20140903	OMIM			
1305975	Bola3	bolA family member 3	gene	DOID:0080134	multiple mitochondrial dysfunctions syndrome 2		ISO	RGD:1606380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA | ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2	PMID:21944046|PMID:22562699|PMID:24334290|PMID:25741868|PMID:26741492|PMID:28492532|PMID:30302924|PMID:33693876|PMID:39492283
1305975	Bola3	bolA family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305975	Bola3	bolA family member 3	gene	DOID:630	genetic disease		ISO	RGD:1606380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1305976	Efr3a	EFR3 homolog A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305976	Efr3a	EFR3 homolog A	gene	DOID:10534	stomach cancer		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305976	Efr3a	EFR3 homolog A	gene	DOID:1115	sarcoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305976	Efr3a	EFR3 homolog A	gene	DOID:1324	lung cancer		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305976	Efr3a	EFR3 homolog A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305976	Efr3a	EFR3 homolog A	gene	DOID:3275	thymoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305976	Efr3a	EFR3 homolog A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305976	Efr3a	EFR3 homolog A	gene	DOID:4362	cervical cancer		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305976	Efr3a	EFR3 homolog A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305976	Efr3a	EFR3 homolog A	gene	DOID:5041	esophageal cancer		ISO	RGD:1604382	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305976	Efr3a	EFR3 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305976	Efr3a	EFR3 homolog A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1305976	Efr3a	EFR3 homolog A	gene	DOID:9003566	Mesothelioma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1305976	Efr3a	EFR3 homolog A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305976	Efr3a	EFR3 homolog A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305976	Efr3a	EFR3 homolog A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305976	Efr3a	EFR3 homolog A	gene	DOID:9256	colorectal cancer		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305978	Glipr1	GLI pathogenesis-related 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305978	Glipr1	GLI pathogenesis-related 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305978	Glipr1	GLI pathogenesis-related 1	gene	DOID:2154	nephroblastoma		ISO	RGD:1314328	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18030365
1305978	Glipr1	GLI pathogenesis-related 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314328	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305978	Glipr1	GLI pathogenesis-related 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305978	Glipr1	GLI pathogenesis-related 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305979	Bmp5	bone morphogenetic protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305979	Bmp5	bone morphogenetic protein 5	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular canal defect	PMID:25741868
1305979	Bmp5	bone morphogenetic protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305979	Bmp5	bone morphogenetic protein 5	gene	DOID:0060306	Meier-Gorlin syndrome		ISS	RGD:1314331	D	RGD:13592920	20180518	MouseDO		OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805	
1305979	Bmp5	bone morphogenetic protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1314330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1305979	Bmp5	bone morphogenetic protein 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305979	Bmp5	bone morphogenetic protein 5	gene	DOID:3275	thymoma		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305979	Bmp5	bone morphogenetic protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1305979	Bmp5	bone morphogenetic protein 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305979	Bmp5	bone morphogenetic protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305979	Bmp5	bone morphogenetic protein 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305979	Bmp5	bone morphogenetic protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305979	Bmp5	bone morphogenetic protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1314333	D	RGD:9588655|PMID:18385101	20141104	RGD			
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1314332	D	RGD:9588651|PMID:16284366	20141104	RGD		DNA:snps, deletion:promoter, cds:g.-634G>A, g.-501delT, p.P401A (human)	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1314332	D	RGD:9588657|PMID:18668384	20141104	RGD		DNA:snp::c.1221+135T>A (rs140689) (human)	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:1909	melanoma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:9587846|PMID:12421618	20141021	RGD		mRNA:increased expression:hippocampus	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:3275	thymoma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314332	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:9007090	Experimental Seizures		IEP		D	RGD:9587847|PMID:12123686	20141021	RGD		mRNA:increased expression:dentate gyrus	
1305980	Mbd1	methyl-CpG binding domain protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305982	Ciao3	cytosolic iron-sulfur assembly component 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305982	Ciao3	cytosolic iron-sulfur assembly component 3	gene	DOID:1270	hereditary hemorrhagic telangiectasia		ISO	RGD:1314335	D	RGD:8554872	20240604	ClinVar		ClinVar Annotator: match by term: Pulmonary arteriovenous malformation	
1305982	Ciao3	cytosolic iron-sulfur assembly component 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305982	Ciao3	cytosolic iron-sulfur assembly component 3	gene	DOID:3275	thymoma		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305982	Ciao3	cytosolic iron-sulfur assembly component 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305982	Ciao3	cytosolic iron-sulfur assembly component 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1305982	Ciao3	cytosolic iron-sulfur assembly component 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305982	Ciao3	cytosolic iron-sulfur assembly component 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305982	Ciao3	cytosolic iron-sulfur assembly component 3	gene	DOID:9002189	High Myopia		ISO	RGD:1314335	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1305982	Ciao3	cytosolic iron-sulfur assembly component 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305982	Ciao3	cytosolic iron-sulfur assembly component 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305983	Pttg1ip	PTTG1 interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305983	Pttg1ip	PTTG1 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305983	Pttg1ip	PTTG1 interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305983	Pttg1ip	PTTG1 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305983	Pttg1ip	PTTG1 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305983	Pttg1ip	PTTG1 interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305983	Pttg1ip	PTTG1 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305983	Pttg1ip	PTTG1 interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305983	Pttg1ip	PTTG1 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:10534	stomach cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:1115	sarcoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:1324	lung cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:3070	high grade glioma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:3275	thymoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1606819	D	RGD:11041891|PMID:23006766	20160401	RGD		mRNA:increased expression:peripheral blood lymphocyte (human)	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:4362	cervical cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:5041	esophageal cancer		ISO	RGD:1606819	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1606819	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305984	Mtrex	Mtr4 exosome RNA helicase	gene	DOID:9256	colorectal cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305985	Golm2	golgi membrane protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305985	Golm2	golgi membrane protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305985	Golm2	golgi membrane protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305985	Golm2	golgi membrane protein 2	gene	DOID:1909	melanoma		ISO	RGD:1603284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305985	Golm2	golgi membrane protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305985	Golm2	golgi membrane protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305985	Golm2	golgi membrane protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305986	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305986	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:4362	cervical cancer		ISO	RGD:1605050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305986	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:5041	esophageal cancer		ISO	RGD:1605050	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305986	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305986	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:6039	uveal melanoma		ISO	RGD:1605050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1305986	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305986	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305986	Suds3	SIN3A corepressor complex component SDS3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305987	Uqcrh	ubiquinol-cytochrome c reductase hinge protein	gene	DOID:3070	high grade glioma		ISO	RGD:1314343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1305987	Uqcrh	ubiquinol-cytochrome c reductase hinge protein	gene	DOID:4362	cervical cancer		ISO	RGD:1314343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305987	Uqcrh	ubiquinol-cytochrome c reductase hinge protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305987	Uqcrh	ubiquinol-cytochrome c reductase hinge protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305987	Uqcrh	ubiquinol-cytochrome c reductase hinge protein	gene	DOID:9006123	Mitochondrial Complex III Deficiency Nuclear Type 11		ISO	RGD:1314343	D	RGD:7240710	20221214	OMIM			
1305987	Uqcrh	ubiquinol-cytochrome c reductase hinge protein	gene	DOID:9006123	Mitochondrial Complex III Deficiency Nuclear Type 11		ISO	RGD:1314343	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 11	PMID:25741868
1305987	Uqcrh	ubiquinol-cytochrome c reductase hinge protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305987	Uqcrh	ubiquinol-cytochrome c reductase hinge protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305987	Uqcrh	ubiquinol-cytochrome c reductase hinge protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1314343	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305989	Peli3	pellino E3 ubiquitin protein ligase family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605259	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305989	Peli3	pellino E3 ubiquitin protein ligase family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305989	Peli3	pellino E3 ubiquitin protein ligase family member 3	gene	DOID:1909	melanoma		ISO	RGD:1605259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305989	Peli3	pellino E3 ubiquitin protein ligase family member 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1605259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305990	Dusp15	dual specificity phosphatase 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305990	Dusp15	dual specificity phosphatase 15	gene	DOID:1909	melanoma		ISO	RGD:1314347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305990	Dusp15	dual specificity phosphatase 15	gene	DOID:3275	thymoma		ISO	RGD:1314347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305990	Dusp15	dual specificity phosphatase 15	gene	DOID:4362	cervical cancer		ISO	RGD:1314347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305990	Dusp15	dual specificity phosphatase 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305990	Dusp15	dual specificity phosphatase 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305991	Procr	protein C receptor	gene	DOID:12365	malaria	disease_progression	ISO	RGD:1314349	D	RGD:126848795|PMID:27671831	20210503	RGD			
1305991	Procr	protein C receptor	gene	DOID:13001	carotid stenosis		IEP		D	RGD:13515129|PMID:21903947	20180409	RGD		associated with Neointima	
1305991	Procr	protein C receptor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1314349	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1305991	Procr	protein C receptor	gene	DOID:3021	acute kidney failure	treatment	IEP		D	RGD:10755583|PMID:23807243	20180409	RGD		associated with Sepsis	
1305991	Procr	protein C receptor	gene	DOID:3393	coronary artery disease		ISO	RGD:1314349	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28530674
1305991	Procr	protein C receptor	gene	DOID:9001240	Peripheral Nerve Injuries		IEP		D	RGD:13515125|PMID:27771530	20180409	RGD			
1305991	Procr	protein C receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314349	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1305991	Procr	protein C receptor	gene	DOID:9004610	Acute Lung Injury	treatment	IEP		D	RGD:13515130|PMID:20095324	20180409	RGD			
1305991	Procr	protein C receptor	gene	DOID:9005372	Inflammation		ISO	RGD:1314349	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23774263
1305991	Procr	protein C receptor	gene	DOID:9007558	Acute Experimental Pancreatitis		IEP		D	RGD:13515127|PMID:25688263	20180409	RGD		protein:increased expression:blood	
1305991	Procr	protein C receptor	gene	DOID:9007558	Acute Experimental Pancreatitis	treatment	IDA		D	RGD:13515128|PMID:24749346	20180409	RGD			
1305991	Procr	protein C receptor	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	IDA		D	RGD:13515126|PMID:26994471	20180409	RGD			
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1601995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:26308914
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:0081229	autosomal recessive intellectual developmental disorder 68		ISO	RGD:1601995	D	RGD:7240710	20190315	OMIM			
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:0081229	autosomal recessive intellectual developmental disorder 68		ISO	RGD:1601995	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 68 | ClinVar Annotator: match by term: TRMT1-related condition	PMID:25741868|PMID:26308914|PMID:40245862
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1601995	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1601995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:21937992|PMID:25741868|PMID:26308914|PMID:26350204|PMID:28492532
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1601995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:2228	thrombocytosis		ISO	RGD:1601995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thrombocytosis	PMID:25741868|PMID:26308914
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1601995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:540	strabismus		ISO	RGD:1601995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:26308914
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1601995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1601995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:26308914
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1601995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:26308914
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1601995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:26308914
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1601995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:26308914
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26308914
1305992	Trmt1	tRNA methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305993	Trim46	tripartite motif-containing 46	gene	DOID:1115	sarcoma		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305993	Trim46	tripartite motif-containing 46	gene	DOID:1324	lung cancer		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1305993	Trim46	tripartite motif-containing 46	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305993	Trim46	tripartite motif-containing 46	gene	DOID:4362	cervical cancer		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305993	Trim46	tripartite motif-containing 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305993	Trim46	tripartite motif-containing 46	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305993	Trim46	tripartite motif-containing 46	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314352	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305993	Trim46	tripartite motif-containing 46	gene	DOID:9256	colorectal cancer		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1305994	Nodal	nodal growth differentiation factor	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heterotaxy syndrome | ClinVar Annotator: match by term: heterotaxia syndrome	PMID:19064609|PMID:19553149|PMID:25741868|PMID:28492532|PMID:31019026|PMID:31564432|PMID:34645491|PMID:38570875
1305994	Nodal	nodal growth differentiation factor	gene	DOID:1682	congenital heart disease		ISO	RGD:1314354	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: congenital heart defects	PMID:1135141
1305994	Nodal	nodal growth differentiation factor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 4	PMID:25741868
1305994	Nodal	nodal growth differentiation factor	gene	DOID:3275	thymoma		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1305994	Nodal	nodal growth differentiation factor	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:19064609|PMID:19553149|PMID:25741868|PMID:28492532|PMID:31019026|PMID:38570875
1305994	Nodal	nodal growth differentiation factor	gene	DOID:4621	holoprosencephaly		ISO	RGD:1314354	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23264560
1305994	Nodal	nodal growth differentiation factor	gene	DOID:4621	holoprosencephaly		ISO	RGD:1314354	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence	PMID:19064609|PMID:19553149|PMID:22352765|PMID:24033266|PMID:25741868|PMID:28492532
1305994	Nodal	nodal growth differentiation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305994	Nodal	nodal growth differentiation factor	gene	DOID:630	genetic disease		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19064609|PMID:19553149|PMID:25741868|PMID:28492532|PMID:31019026|PMID:38570875
1305994	Nodal	nodal growth differentiation factor	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1314354	D	RGD:7240710	20130731	OMIM			
1305994	Nodal	nodal growth differentiation factor	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 5, AUTOSOMAL | ClinVar Annotator: match by term: Heterotaxy, visceral, 5 | ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal | ClinVar Annotator: match by term: NODAL-related condition | ClinVar Annotator: match by term: NODAL-related disorders | ClinVar Annotator: match by term: Situs inversus | ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal	PMID:16199547|PMID:17576681|PMID:19064609|PMID:19553149|PMID:19933292|PMID:24033266|PMID:25741868|PMID:26121141|PMID:28492532|PMID:29368431|PMID:30293987|PMID:31019026|PMID:31570783|PMID:37644014|PMID:37853563|PMID:38570875|PMID:9536098
1305994	Nodal	nodal growth differentiation factor	gene	DOID:769	neuroblastoma		ISO	RGD:1314354	D	RGD:155226876|PMID:30985990	20220919	RGD		mRNA:increased expression:neural tissue (human)	
1305994	Nodal	nodal growth differentiation factor	gene	DOID:9002116	Congenitally Corrected Transposition of the Great Arteries		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenitally corrected transposition of the great arteries	PMID:19064609|PMID:19933292|PMID:25741868|PMID:28492532|PMID:31570783|PMID:37644014
1305994	Nodal	nodal growth differentiation factor	gene	DOID:9007098	Pulmonary Atresia	susceptibility	ISO	RGD:1314354	D	RGD:11568370|PMID:19064609	20220920	RGD		DNA:mutations	
1305996	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1305996	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1305996	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1305996	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305996	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1305996	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305996	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305996	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1305996	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314357	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1305996	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305996	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314357	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1305996	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1305996	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1305996	Wdfy1	WD repeat and FYVE domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1305998	Klk8	kallikrein related-peptidase 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1305998	Klk8	kallikrein related-peptidase 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1305998	Klk8	kallikrein related-peptidase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305999	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1314362	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1305999	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1305999	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314362	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16243910
1305999	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1314362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1305999	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1305999	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1305999	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314362	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1305999	Csrnp1	cysteine and serine rich nuclear protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306000	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306000	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:0070330	multiple mitochondrial dysfunctions syndrome		ISO	RGD:1606941	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1306000	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:0080135	multiple mitochondrial dysfunctions syndrome 3		ISO	RGD:1606941	D	RGD:7240710	20140911	OMIM			
1306000	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:0080135	multiple mitochondrial dysfunctions syndrome 3		ISO	RGD:1606941	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 | ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3	PMID:17576681|PMID:23462291|PMID:24033266|PMID:25609768|PMID:25741868|PMID:25971455|PMID:27785568|PMID:28492532|PMID:28671726|PMID:32348839|PMID:38129218|PMID:9536098
1306000	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:0110819	hereditary spastic paraplegia 74		ISO	RGD:1606941	D	RGD:7240710	20170412	OMIM			
1306000	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:0110819	hereditary spastic paraplegia 74		ISO	RGD:1606941	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 | ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive	PMID:16199547|PMID:17576681|PMID:23462291|PMID:25609768|PMID:25741868|PMID:25971455|PMID:27785568|PMID:28492532|PMID:28671726|PMID:28803783|PMID:29353736|PMID:30258207|PMID:32180488|PMID:32348839|PMID:34906502|PMID:9536098
1306000	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:10907	microcephaly		ISO	RGD:1606941	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1306000	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306000	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:4362	cervical cancer		ISO	RGD:1606941	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306000	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1306000	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:630	genetic disease		ISO	RGD:1606941	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28671726
1306000	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306000	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306000	Iba57	iron-sulfur cluster assembly factor IBA57	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306001	Cdpf1	cysteine rich, DPF motif domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306001	Cdpf1	cysteine rich, DPF motif domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306001	Cdpf1	cysteine rich, DPF motif domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604737	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306001	Cdpf1	cysteine rich, DPF motif domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306002	Tnn	tenascin N	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306002	Tnn	tenascin N	gene	DOID:10534	stomach cancer		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306002	Tnn	tenascin N	gene	DOID:1115	sarcoma		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306002	Tnn	tenascin N	gene	DOID:1324	lung cancer		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306002	Tnn	tenascin N	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306002	Tnn	tenascin N	gene	DOID:2394	ovarian cancer		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306002	Tnn	tenascin N	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306002	Tnn	tenascin N	gene	DOID:4362	cervical cancer		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306002	Tnn	tenascin N	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306002	Tnn	tenascin N	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306002	Tnn	tenascin N	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306002	Tnn	tenascin N	gene	DOID:9256	colorectal cancer		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:0080556	congenital disorder of glycosylation Id		ISO	RGD:1314369	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:0080556	congenital disorder of glycosylation Id		ISO	RGD:1314369	D	RGD:7240710	20130221	OMIM			
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:0080556	congenital disorder of glycosylation Id		ISO	RGD:1314369	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALG3-related condition | ClinVar Annotator: match by term: CDGS, TYPE IV | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id	PMID:12357336|PMID:17551933|PMID:25741868|PMID:28492532
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:10579	leukodystrophy		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:30167849|PMID:33583022
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:10907	microcephaly		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1314369	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:33583022
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314369	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1314369	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation	PMID:25741868
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:540	strabismus		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:33583022
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1314369	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:9008385	Vomiting		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306004	Alg3	ALG3, alpha-1,3- mannosyltransferase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1314369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1306005	Slc38a11	solute carrier family 38, member 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306005	Slc38a11	solute carrier family 38, member 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306005	Slc38a11	solute carrier family 38, member 11	gene	DOID:10534	stomach cancer		ISO	RGD:1605863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306005	Slc38a11	solute carrier family 38, member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306005	Slc38a11	solute carrier family 38, member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306005	Slc38a11	solute carrier family 38, member 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306006	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:1115	sarcoma		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306006	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:1324	lung cancer		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306006	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:1909	melanoma		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306006	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:3070	high grade glioma		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306006	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306006	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306006	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306006	Brms1l	BRMS1 like transcriptional repressor	gene	DOID:9256	colorectal cancer		ISO	RGD:1314372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306007	Zbtb6	zinc finger and BTB domain containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314374	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306007	Zbtb6	zinc finger and BTB domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306007	Zbtb6	zinc finger and BTB domain containing 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306008	Armc12	armadillo repeat containing 12	gene	DOID:0070589	spermatogenic failure 90		ISO	RGD:1314376	D	RGD:7240710	20240320	OMIM			
1306008	Armc12	armadillo repeat containing 12	gene	DOID:0070589	spermatogenic failure 90		ISO	RGD:1314376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 90	
1306008	Armc12	armadillo repeat containing 12	gene	DOID:10283	prostate cancer		ISO	RGD:1314376	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1306008	Armc12	armadillo repeat containing 12	gene	DOID:10283	prostate cancer		ISO	RGD:1314376	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1306008	Armc12	armadillo repeat containing 12	gene	DOID:10534	stomach cancer		ISO	RGD:1314376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306008	Armc12	armadillo repeat containing 12	gene	DOID:1909	melanoma		ISO	RGD:1314376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306009	Nanp	N-acetylneuraminic acid phosphatase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306009	Nanp	N-acetylneuraminic acid phosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306009	Nanp	N-acetylneuraminic acid phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306011	Rnf126	ring finger protein 126	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306011	Rnf126	ring finger protein 126	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306011	Rnf126	ring finger protein 126	gene	DOID:1115	sarcoma		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306011	Rnf126	ring finger protein 126	gene	DOID:1909	melanoma		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306011	Rnf126	ring finger protein 126	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306011	Rnf126	ring finger protein 126	gene	DOID:3275	thymoma		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306011	Rnf126	ring finger protein 126	gene	DOID:4362	cervical cancer		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306011	Rnf126	ring finger protein 126	gene	DOID:5041	esophageal cancer		ISO	RGD:1314381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306011	Rnf126	ring finger protein 126	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306012	Klf14	KLF transcription factor 14	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1343776	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29632379
1306012	Klf14	KLF transcription factor 14	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1343776	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29632379
1306012	Klf14	KLF transcription factor 14	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343776	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29632379
1306013	Scarf2	scavenger receptor class F, member 2	gene	DOID:0111699	Van den Ende-Gupta syndrome		ISO	RGD:1314385	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306013	Scarf2	scavenger receptor class F, member 2	gene	DOID:0111699	Van den Ende-Gupta syndrome		ISO	RGD:1314385	D	RGD:7240710	20141015	OMIM			
1306013	Scarf2	scavenger receptor class F, member 2	gene	DOID:0111699	Van den Ende-Gupta syndrome		ISO	RGD:1314385	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SCARF2-related condition | ClinVar Annotator: match by term: VAN DEN ENDE-GUPTA SYNDROME | ClinVar Annotator: match by term: Van den Ende-Gupta syndrome | ClinVar Annotator: match by term: van den Ende-Gupta syndrome	PMID:25741868|PMID:28492532
1306013	Scarf2	scavenger receptor class F, member 2	gene	DOID:0112270	spermatogenic failure 52		ISO	RGD:12382097	D	RGD:9068941	20240914	OMIA		Van den Ende-Gupta syndrome	PMID:27187611|PMID:27803843|PMID:37582787
1306013	Scarf2	scavenger receptor class F, member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306013	Scarf2	scavenger receptor class F, member 2	gene	DOID:10907	microcephaly		ISO	RGD:1314385	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1306013	Scarf2	scavenger receptor class F, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306013	Scarf2	scavenger receptor class F, member 2	gene	DOID:630	genetic disease		ISO	RGD:1314385	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306013	Scarf2	scavenger receptor class F, member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306015	Pgghg	protein-glucosylgalactosylhydroxylysine glucosidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306015	Pgghg	protein-glucosylgalactosylhydroxylysine glucosidase	gene	DOID:1909	melanoma		ISO	RGD:1604792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306015	Pgghg	protein-glucosylgalactosylhydroxylysine glucosidase	gene	DOID:4362	cervical cancer		ISO	RGD:1604792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306015	Pgghg	protein-glucosylgalactosylhydroxylysine glucosidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306015	Pgghg	protein-glucosylgalactosylhydroxylysine glucosidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306016	Myo1g	myosin IG	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306016	Myo1g	myosin IG	gene	DOID:10534	stomach cancer		ISO	RGD:1314390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306016	Myo1g	myosin IG	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306016	Myo1g	myosin IG	gene	DOID:1324	lung cancer		ISO	RGD:1314390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1306016	Myo1g	myosin IG	gene	DOID:3275	thymoma		ISO	RGD:1314390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306016	Myo1g	myosin IG	gene	DOID:5041	esophageal cancer		ISO	RGD:1314390	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306016	Myo1g	myosin IG	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306016	Myo1g	myosin IG	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306017	Ankmy2	ankyrin repeat and MYND domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306017	Ankmy2	ankyrin repeat and MYND domain containing 2	gene	DOID:0060058	lymphoma		ISO	RGD:1314392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306017	Ankmy2	ankyrin repeat and MYND domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306017	Ankmy2	ankyrin repeat and MYND domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1314392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306017	Ankmy2	ankyrin repeat and MYND domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306017	Ankmy2	ankyrin repeat and MYND domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306017	Ankmy2	ankyrin repeat and MYND domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314392	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306017	Ankmy2	ankyrin repeat and MYND domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306017	Ankmy2	ankyrin repeat and MYND domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306017	Ankmy2	ankyrin repeat and MYND domain containing 2	gene	DOID:9002189	High Myopia		ISO	RGD:1314392	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1306017	Ankmy2	ankyrin repeat and MYND domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306020	Asphd2	aspartate beta-hydroxylase domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306020	Asphd2	aspartate beta-hydroxylase domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306020	Asphd2	aspartate beta-hydroxylase domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306020	Asphd2	aspartate beta-hydroxylase domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601744	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306020	Asphd2	aspartate beta-hydroxylase domain containing 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306020	Asphd2	aspartate beta-hydroxylase domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306020	Asphd2	aspartate beta-hydroxylase domain containing 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306020	Asphd2	aspartate beta-hydroxylase domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306020	Asphd2	aspartate beta-hydroxylase domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306020	Asphd2	aspartate beta-hydroxylase domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314398	D	RGD:9068941	20230128	RGD		mRNA:increased expression:heart	PMID:18658259|REF_RGD_ID:155882484
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1314398	D	RGD:1580640|PMID:15705784	19990101	RGD			
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:0080169	tricuspid atresia		ISO	RGD:1550372	D	RGD:155882483|PMID:10888889	20230125	RGD			
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:0080169	tricuspid atresia		ISS	RGD:1550372	D	RGD:13592920	20180518	MouseDO		OMIM:605067	
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:0111770	46,XY sex reversal 9		ISO	RGD:1314398	D	RGD:7240710	20150408	OMIM			
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:0111770	46,XY sex reversal 9		ISO	RGD:1314398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 9	PMID:24469719|PMID:25741868|PMID:28166811|PMID:28492532|PMID:34008892
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:0111772	46,XY sex reversal 3		ISO	RGD:1314398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED	PMID:25741868|PMID:28492532
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:1115	sarcoma		ISO	RGD:1314398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1550372	D	RGD:155882481|PMID:25196150	20230125	RGD			
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1550372	D	RGD:155882484|PMID:18658259	20230125	RGD		protein:increased expression:heart:	
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1550372	D	RGD:155882481|PMID:25196150	20230125	RGD			
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1550372	D	RGD:155882481|PMID:25196150	20230125	RGD			
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:3275	thymoma		ISO	RGD:1314398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:3827	congenital diaphragmatic hernia		ISS	RGD:1550372	D	RGD:13592920	20180719	MouseDO		OMIM:142340 | OMIM:222400 | OMIM:610187	
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:6000	congestive heart failure	exacerbates	ISO	RGD:1550372	D	RGD:155882484|PMID:18658259	20230125	RGD			
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:630	genetic disease		ISO	RGD:1314398	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1314398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	PMID:25741868|PMID:28492532
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1314398	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1314398	D	RGD:155882486|PMID:26959486	20230125	RGD		DNA,mRNA:hypermethylation,decreased expression:promoter,heart:	
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1314398	D	RGD:1580641|PMID:14517948	19990101	RGD			
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1314398	D	RGD:7240710	20130221	OMIM			
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1314398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868|PMID:28492532
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:6419	tetralogy of Fallot		ISS	RGD:1550372	D	RGD:13592920	20230718	MouseDO		OMIM:187500	
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:9000460	Diaphragmatic Hernia 3		ISO	RGD:1314398	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:9000460	Diaphragmatic Hernia 3		ISO	RGD:1314398	D	RGD:7240710	20130221	OMIM			
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:9000460	Diaphragmatic Hernia 3		ISO	RGD:1314398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diaphragmatic hernia 3	PMID:25741868|PMID:28492532
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:9003505	Venous Thromboembolism	susceptibility	ISO	RGD:1314398	D	RGD:155882487|PMID:28373160	20230125	RGD		DNA:SNP: :rs4602861(human)	
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:9003766	46, XY Disorders of Sex Development		ISO	RGD:1314398	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 46 XY differences of sex development | ClinVar Annotator: match by term: 46,XY disorder of sex development	PMID:25741868|PMID:28492532
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:9008539	Perinatal Death		ISO	RGD:1550372	D	RGD:155882481|PMID:25196150	20230125	RGD			
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306021	Zfpm2	zinc finger protein, multitype 2	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:1314398	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17436238
1306022	Nup188	nucleoporin 188	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306022	Nup188	nucleoporin 188	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306022	Nup188	nucleoporin 188	gene	DOID:0081272	Sandestig-Stefanova syndrome		ISO	RGD:1348104	D	RGD:7240710	20200318	OMIM			
1306022	Nup188	nucleoporin 188	gene	DOID:0081272	Sandestig-Stefanova syndrome		ISO	RGD:1348104	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NUP188-related condition | ClinVar Annotator: match by term: SANDESTIG-STEFANOVA SYNDROME | ClinVar Annotator: match by term: Sandestig-stefanova syndrome	PMID:25741868|PMID:28492532
1306022	Nup188	nucleoporin 188	gene	DOID:10534	stomach cancer		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306022	Nup188	nucleoporin 188	gene	DOID:10907	microcephaly		ISO	RGD:1348104	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:32275884
1306022	Nup188	nucleoporin 188	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306022	Nup188	nucleoporin 188	gene	DOID:1115	sarcoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306022	Nup188	nucleoporin 188	gene	DOID:11162	respiratory failure		ISO	RGD:1348104	D	RGD:243048418|PMID:32275884	20230329	RGD		DNA:frameshift mutations, nonsense mutations:CDS:multiple (human)	
1306022	Nup188	nucleoporin 188	gene	DOID:11383	cryptorchidism		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:25741868
1306022	Nup188	nucleoporin 188	gene	DOID:1324	lung cancer		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306022	Nup188	nucleoporin 188	gene	DOID:1909	melanoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306022	Nup188	nucleoporin 188	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306022	Nup188	nucleoporin 188	gene	DOID:3275	thymoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306022	Nup188	nucleoporin 188	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306022	Nup188	nucleoporin 188	gene	DOID:4362	cervical cancer		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306022	Nup188	nucleoporin 188	gene	DOID:5041	esophageal cancer		ISO	RGD:1348104	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306022	Nup188	nucleoporin 188	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306022	Nup188	nucleoporin 188	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306022	Nup188	nucleoporin 188	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306022	Nup188	nucleoporin 188	gene	DOID:630	genetic disease		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306022	Nup188	nucleoporin 188	gene	DOID:674	cleft palate		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1306022	Nup188	nucleoporin 188	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306022	Nup188	nucleoporin 188	gene	DOID:83	cataract		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
1306022	Nup188	nucleoporin 188	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306022	Nup188	nucleoporin 188	gene	DOID:9005616	Micrognathism		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1306022	Nup188	nucleoporin 188	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306022	Nup188	nucleoporin 188	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306022	Nup188	nucleoporin 188	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306023	Ubxn8	UBX domain protein 8	gene	DOID:1115	sarcoma		ISO	RGD:1603319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306023	Ubxn8	UBX domain protein 8	gene	DOID:4362	cervical cancer		ISO	RGD:1603319	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306023	Ubxn8	UBX domain protein 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306023	Ubxn8	UBX domain protein 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1603319	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306023	Ubxn8	UBX domain protein 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306023	Ubxn8	UBX domain protein 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306023	Ubxn8	UBX domain protein 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306023	Ubxn8	UBX domain protein 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1603319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306024	Dnajc8	DnaJ heat shock protein family (Hsp40) member C8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306024	Dnajc8	DnaJ heat shock protein family (Hsp40) member C8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306024	Dnajc8	DnaJ heat shock protein family (Hsp40) member C8	gene	DOID:3275	thymoma		ISO	RGD:1314401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306024	Dnajc8	DnaJ heat shock protein family (Hsp40) member C8	gene	DOID:4362	cervical cancer		ISO	RGD:1314401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306024	Dnajc8	DnaJ heat shock protein family (Hsp40) member C8	gene	DOID:5041	esophageal cancer		ISO	RGD:1314401	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306024	Dnajc8	DnaJ heat shock protein family (Hsp40) member C8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306024	Dnajc8	DnaJ heat shock protein family (Hsp40) member C8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306024	Dnajc8	DnaJ heat shock protein family (Hsp40) member C8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306024	Dnajc8	DnaJ heat shock protein family (Hsp40) member C8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306024	Dnajc8	DnaJ heat shock protein family (Hsp40) member C8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:0080600	COVID-19		ISO	RGD:1314403	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1314403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:31680123
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:0112317	Schindler disease		ISO	RGD:1314403	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency | ClinVar Annotator: match by term: NAGA-related disorder | ClinVar Annotator: match by term: Schindler disease	PMID:11251574|PMID:1131374|PMID:11313741|PMID:1313741|PMID:14685826|PMID:16199547|PMID:17171432|PMID:19683538|PMID:2243144|PMID:23045655|PMID:24033266|PMID:25741868|PMID:27138754|PMID:28492532|PMID:28518168|PMID:2889023|PMID:29431110|PMID:30487145|PMID:31980526|PMID:32461654|PMID:32860008|PMID:34670123|PMID:40083435|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:0112318	Schindler disease type 1		ISO	RGD:1314403	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:2243144|PMID:19683538
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:0112318	Schindler disease type 1		ISO	RGD:1314403	D	RGD:7240710	20130221	OMIM			
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:0112318	Schindler disease type 1		ISO	RGD:1314403	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 | ClinVar Annotator: match by term: Neuroaxonal dystrophy, Schindler type | ClinVar Annotator: match by term: Schindler disease, type 1	PMID:11251574|PMID:1131374|PMID:11313741|PMID:16199547|PMID:17576681|PMID:18414213|PMID:23045655|PMID:24033266|PMID:25640679|PMID:25741868|PMID:28492532|PMID:31980526|PMID:34670123|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044|PMID:9536098
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:0112319	Kanzaki disease		ISO	RGD:1314403	D	RGD:7240710	20211013	OMIM			
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:0112319	Kanzaki disease		ISO	RGD:1314403	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 | ClinVar Annotator: match by term: KANZAKI DISEASE | ClinVar Annotator: match by term: SCHINDLER DISEASE, TYPE II	PMID:11251574|PMID:11313741|PMID:23045655|PMID:24033266|PMID:24767253|PMID:25741868|PMID:28252636|PMID:28492532|PMID:31980526|PMID:34670123|PMID:8040340|PMID:8071745|PMID:8782044
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:0112320	Schindler disease type 3		ISO	RGD:1314403	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 3	PMID:11251574|PMID:11313741|PMID:23045655|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31980526|PMID:34670123|PMID:8071745|PMID:8782044
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:10534	stomach cancer		ISO	RGD:1314403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:1059	intellectual disability		ISO	RGD:1314403	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:1115	sarcoma		ISO	RGD:1314403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:1324	lung cancer		ISO	RGD:1314403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:2367	neuroaxonal dystrophy		ISO	RGD:1314403	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:2243144
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:2367	neuroaxonal dystrophy		ISO	RGD:1314403	D	RGD:1600557|PMID:2243144	20070314	RGD		Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K	
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:3275	thymoma		ISO	RGD:1314403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:4362	cervical cancer		ISO	RGD:1314403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:479	angiokeratoma		ISO	RGD:1314403	D	RGD:1600558|PMID:8040340	20070314	RGD		Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W	
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314403	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:630	genetic disease		ISO	RGD:1314403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11251574|PMID:1131374|PMID:11313741|PMID:1313741|PMID:14685826|PMID:17171432|PMID:19683538|PMID:2243144|PMID:24033266|PMID:25741868|PMID:27138754|PMID:28492532|PMID:28518168|PMID:2889023|PMID:29431110|PMID:30487145|PMID:32461654|PMID:32860008|PMID:40083435|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044
1306025	Naga	alpha-N-acetylgalactosaminidase	gene	DOID:630	genetic disease		ISO	RGD:1314403	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306026	Msrb2	methionine sulfoxide reductase B2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306026	Msrb2	methionine sulfoxide reductase B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306026	Msrb2	methionine sulfoxide reductase B2	gene	DOID:1909	melanoma		ISO	RGD:1345900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306026	Msrb2	methionine sulfoxide reductase B2	gene	DOID:3275	thymoma		ISO	RGD:1345900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306026	Msrb2	methionine sulfoxide reductase B2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306026	Msrb2	methionine sulfoxide reductase B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306026	Msrb2	methionine sulfoxide reductase B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306028	Aifm3	AIF family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306028	Aifm3	AIF family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306028	Aifm3	AIF family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306028	Aifm3	AIF family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1604991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306028	Aifm3	AIF family member 3	gene	DOID:1909	melanoma		ISO	RGD:1604991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306028	Aifm3	AIF family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306028	Aifm3	AIF family member 3	gene	DOID:3275	thymoma		ISO	RGD:1604991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306028	Aifm3	AIF family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306028	Aifm3	AIF family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306028	Aifm3	AIF family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306028	Aifm3	AIF family member 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1604991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306029	Klf7	KLF transcription factor 7	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1314410	D	RGD:11554173	20241105	CTD		CTD Direct Evidence: therapeutic	PMID:38184286
1306029	Klf7	KLF transcription factor 7	gene	DOID:1059	intellectual disability		ISO	RGD:1314410	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763|PMID:30838725|PMID:33875846|PMID:36835410
1306029	Klf7	KLF transcription factor 7	gene	DOID:1115	sarcoma		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306029	Klf7	KLF transcription factor 7	gene	DOID:2030	anxiety disorder		ISO	RGD:1314410	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763|PMID:30838725
1306029	Klf7	KLF transcription factor 7	gene	DOID:4362	cervical cancer		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306029	Klf7	KLF transcription factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306029	Klf7	KLF transcription factor 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306029	Klf7	KLF transcription factor 7	gene	DOID:630	genetic disease		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763|PMID:30838725|PMID:35982159
1306029	Klf7	KLF transcription factor 7	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1314410	D	RGD:11554173	20240305	CTD		CTD Direct Evidence: therapeutic	PMID:37734194
1306029	Klf7	KLF transcription factor 7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763|PMID:30838725
1306029	Klf7	KLF transcription factor 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306029	Klf7	KLF transcription factor 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1314412	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413735
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1314412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1314412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:1314412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1314412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1314412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1314412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1314412	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20543847
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:1314412	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20543847
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306030	Atf7ip	activating transcription factor 7 interacting protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1314412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306031	Mfap2	microfibril associated protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306031	Mfap2	microfibril associated protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306031	Mfap2	microfibril associated protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1314413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306031	Mfap2	microfibril associated protein 2	gene	DOID:1909	melanoma		ISO	RGD:1314413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306031	Mfap2	microfibril associated protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1314413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306031	Mfap2	microfibril associated protein 2	gene	DOID:5119	ovarian cyst		ISO	RGD:1314413	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
1306031	Mfap2	microfibril associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306031	Mfap2	microfibril associated protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306032	Fbxw8	F-box and WD repeat domain containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1314415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306032	Fbxw8	F-box and WD repeat domain containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314415	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
1306032	Fbxw8	F-box and WD repeat domain containing 8	gene	DOID:1115	sarcoma		ISO	RGD:1314415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306032	Fbxw8	F-box and WD repeat domain containing 8	gene	DOID:1909	melanoma		ISO	RGD:1314415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306032	Fbxw8	F-box and WD repeat domain containing 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306032	Fbxw8	F-box and WD repeat domain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1314415	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306032	Fbxw8	F-box and WD repeat domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306032	Fbxw8	F-box and WD repeat domain containing 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306032	Fbxw8	F-box and WD repeat domain containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306032	Fbxw8	F-box and WD repeat domain containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1306033	Atp13a1	ATPase 13A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306033	Atp13a1	ATPase 13A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306033	Atp13a1	ATPase 13A1	gene	DOID:10534	stomach cancer		ISO	RGD:1346886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306033	Atp13a1	ATPase 13A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306033	Atp13a1	ATPase 13A1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306033	Atp13a1	ATPase 13A1	gene	DOID:3070	high grade glioma		ISO	RGD:1346886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306033	Atp13a1	ATPase 13A1	gene	DOID:4362	cervical cancer		ISO	RGD:1346886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306033	Atp13a1	ATPase 13A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346886	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306033	Atp13a1	ATPase 13A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306033	Atp13a1	ATPase 13A1	gene	DOID:6039	uveal melanoma		ISO	RGD:1346886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306033	Atp13a1	ATPase 13A1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306033	Atp13a1	ATPase 13A1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1346886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306033	Atp13a1	ATPase 13A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306033	Atp13a1	ATPase 13A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:0060058	lymphoma		ISO	RGD:1314419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1314419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:1115	sarcoma		ISO	RGD:1314419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:2394	ovarian cancer		ISO	RGD:1314419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:3275	thymoma		ISO	RGD:1314419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:607	paraplegia		ISO	RGD:1314419	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1314419	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306034	Epb41l4a	erythrocyte membrane protein band 4.1 like 4A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:0050795	cone dystrophy		ISS	RGD:1550378	D	RGD:13592920	20210708	MouseDO		OMIM:180020 | OMIM:610024 | OMIM:610356 | OMIM:610478 | OMIM:613093	
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:0111249	uveal coloboma-cleft lip and palate-intellectual disability		ISO	RGD:1314421	D	RGD:7240710	20141015	OMIM			
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:0111249	uveal coloboma-cleft lip and palate-intellectual disability		ISO	RGD:1314421	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition	PMID:25741868|PMID:28492532
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:1115	sarcoma		ISO	RGD:1314421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:12270	coloboma		ISO	RGD:1314421	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COLOBOMA, OCULAR	
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:255	hemangioma		ISO	RGD:1314421	D	RGD:11554173	20191210	CTD		CTD Direct Evidence: marker/mechanism	PMID:31351048
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1314421	D	RGD:11554173	20191210	CTD		CTD Direct Evidence: marker/mechanism	PMID:31494105
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1314421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1314421	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314421	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:20729916
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314421	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29698666
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:769	neuroblastoma		ISO	RGD:1314421	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:1314421	D	RGD:151893490|PMID:28756200	20220421	RGD			
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:9000918	Disease Progression		ISO	RGD:1314421	D	RGD:11554173	20190312	CTD		CTD Direct Evidence: marker/mechanism	PMID:30703373
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1314421	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:28114269
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1314421	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20947521
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:9002801	Recurrence		ISO	RGD:1314421	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1314421	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34351699
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1314421	D	RGD:11554173	20190312	CTD		CTD Direct Evidence: marker/mechanism	PMID:30703373
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1314421	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935819
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1314421	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241|PMID:34351699
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1314421	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28114269|PMID:28524356
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1314421	D	RGD:153297782|PMID:32682784	20220726	RGD		human cells in mouse model	
1306035	Yap1	Yes1 associated transcriptional regulator	gene	DOID:9538	multiple myeloma		ISO	RGD:1314421	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1306037	Bloc1s4	biogenesis of lysosomal organelles complex 1 subunit 4	gene	DOID:3753	Hermansky-Pudlak syndrome		ISS	RGD:1332125	D	RGD:13592920	20180518	MouseDO			
1306038	Ssh1	slingshot protein phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306038	Ssh1	slingshot protein phosphatase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306038	Ssh1	slingshot protein phosphatase 1	gene	DOID:1115	sarcoma		ISO	RGD:1345208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306038	Ssh1	slingshot protein phosphatase 1	gene	DOID:1324	lung cancer		ISO	RGD:1345208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306038	Ssh1	slingshot protein phosphatase 1	gene	DOID:1909	melanoma		ISO	RGD:1345208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306038	Ssh1	slingshot protein phosphatase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306038	Ssh1	slingshot protein phosphatase 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1345208	D	RGD:8554872	20190507	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1306038	Ssh1	slingshot protein phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306038	Ssh1	slingshot protein phosphatase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306038	Ssh1	slingshot protein phosphatase 1	gene	DOID:9002514	Neointima		IEP		D	RGD:11535005|PMID:21868701	20160916	RGD		protein:increased expression:carotid artery	
1306038	Ssh1	slingshot protein phosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306038	Ssh1	slingshot protein phosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306039	C1ql1	complement C1q like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306040	Creb3l2	cAMP responsive element binding protein 3-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306040	Creb3l2	cAMP responsive element binding protein 3-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306040	Creb3l2	cAMP responsive element binding protein 3-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306040	Creb3l2	cAMP responsive element binding protein 3-like 2	gene	DOID:1909	melanoma		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306040	Creb3l2	cAMP responsive element binding protein 3-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306040	Creb3l2	cAMP responsive element binding protein 3-like 2	gene	DOID:3275	thymoma		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306040	Creb3l2	cAMP responsive element binding protein 3-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306040	Creb3l2	cAMP responsive element binding protein 3-like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306040	Creb3l2	cAMP responsive element binding protein 3-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306040	Creb3l2	cAMP responsive element binding protein 3-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306040	Creb3l2	cAMP responsive element binding protein 3-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306041	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306041	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:1324	lung cancer		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306041	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:1909	melanoma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306041	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:3070	high grade glioma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306041	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:3275	thymoma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306041	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:4362	cervical cancer		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306041	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306041	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602885	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306041	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:6039	uveal melanoma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306041	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306041	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306041	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306041	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306041	Ttc38	tetratricopeptide repeat domain 38	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306042	Sugp2	SURP and G patch domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306042	Sugp2	SURP and G patch domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306042	Sugp2	SURP and G patch domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306042	Sugp2	SURP and G patch domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306042	Sugp2	SURP and G patch domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306042	Sugp2	SURP and G patch domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306042	Sugp2	SURP and G patch domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306042	Sugp2	SURP and G patch domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306042	Sugp2	SURP and G patch domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314432	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306042	Sugp2	SURP and G patch domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306042	Sugp2	SURP and G patch domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306042	Sugp2	SURP and G patch domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306042	Sugp2	SURP and G patch domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306043	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1314434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306043	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:1909	melanoma		ISO	RGD:1314434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306043	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306043	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1314434	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1306043	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306043	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306043	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306043	Dmrt3	doublesex and mab-3 related transcription factor 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1314434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:0060058	lymphoma		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:10534	stomach cancer		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:1324	lung cancer		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:1909	melanoma		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:3070	high grade glioma		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:37	skin disease		ISO	RGD:1314436	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:4362	cervical cancer		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1314436	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1314436	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306044	Usp13	ubiquitin specific peptidase 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1314436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314438	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0070331	mitochondrial DNA depletion syndrome 8b		ISO	RGD:1314438	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:19667227
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0070331	mitochondrial DNA depletion syndrome 8b		ISO	RGD:1314438	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)	PMID:19125351|PMID:19667227|PMID:22176657|PMID:23307888|PMID:24382854|PMID:25741868|PMID:28492532|PMID:29241262|PMID:31589614|PMID:32161153|PMID:33300680|PMID:35237671|PMID:35286480
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:7240710	20150821	OMIM			
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease	PMID:17486094|PMID:17576681|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32313153|PMID:33300680|PMID:9536098
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency	PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32313153|PMID:33300680|PMID:8130196|PMID:9536098
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency	PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:18504129|PMID:19125351|PMID:19138848|PMID:19616983|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24086434|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26546047|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:31521625|PMID:32161153|PMID:32313153|PMID:33300680|PMID:33858029|PMID:8130196|PMID:9536098
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease	PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:18504129|PMID:19125351|PMID:19138848|PMID:19616983|PMID:19664747|PMID:19667227|PMID:21297166|PMID:21378381|PMID:21646632|PMID:21951382|PMID:22176657|PMID:23107649|PMID:23307888|PMID:24086434|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26546047|PMID:27290639|PMID:27483465|PMID:28482374|PMID:28492532|PMID:28639102|PMID:28812649|PMID:29241262|PMID:30439532|PMID:30909120|PMID:31130284|PMID:31462754|PMID:31521625|PMID:31589614|PMID:31794469|PMID:32161153|PMID:32313153|PMID:33144682|PMID:33300680|PMID:33858029|PMID:34706366|PMID:35188226|PMID:35237671|PMID:35286480|PMID:35756861|PMID:38991193|PMID:8130196|PMID:9536098
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease	PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:18504129|PMID:19125351|PMID:19138848|PMID:19616983|PMID:19664747|PMID:19667227|PMID:21297166|PMID:21378381|PMID:21646632|PMID:21951382|PMID:22176657|PMID:23107649|PMID:23307888|PMID:24086434|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25502805|PMID:25741868|PMID:26167114|PMID:26467025|PMID:26546047|PMID:27290639|PMID:27483465|PMID:28482374|PMID:28492532|PMID:28639102|PMID:28812649|PMID:29241262|PMID:30439532|PMID:30909120|PMID:31130284|PMID:31462754|PMID:31521625|PMID:31589614|PMID:31794469|PMID:32161153|PMID:32313153|PMID:33144682|PMID:33300680|PMID:33858029|PMID:34706366|PMID:35188226|PMID:35237671|PMID:35286480|PMID:35756861|PMID:36959467|PMID:38991193|PMID:8130196|PMID:9536098
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease	PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:18504129|PMID:19125351|PMID:19138848|PMID:19616983|PMID:19664747|PMID:19667227|PMID:21297166|PMID:21378381|PMID:21646632|PMID:21951382|PMID:22176657|PMID:23107649|PMID:23307888|PMID:24086434|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25502805|PMID:25741868|PMID:26467025|PMID:26546047|PMID:27290639|PMID:27483465|PMID:28482374|PMID:28492532|PMID:28639102|PMID:28812649|PMID:29241262|PMID:30049826|PMID:30439532|PMID:30909120|PMID:31130284|PMID:31462754|PMID:31521625|PMID:31589614|PMID:31794469|PMID:32161153|PMID:32313153|PMID:33144682|PMID:33300680|PMID:33858029|PMID:34706366|PMID:35188226|PMID:35237671|PMID:35286480|PMID:35756861|PMID:36959467|PMID:38703036|PMID:38991193|PMID:8130196|PMID:9536098
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) | ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease	PMID:06|PMID:10|PMID:1016|PMID:12859174|PMID:16199547|PMID:17486094|PMID:18504129|PMID:19125351|PMID:19138848|PMID:19616983|PMID:19664747|PMID:19667227|PMID:2014|PMID:21297166|PMID:21378381|PMID:21646632|PMID:21951382|PMID:22176657|PMID:23107649|PMID:23307888|PMID:24086434|PMID:24382854|PMID:244|PMID:24741716|PMID:25326637|PMID:25502805|PMID:25741868|PMID:27290639|PMID:28482374|PMID:28492532|PMID:28639102|PMID:29241262|PMID:30049826|PMID:30909120|PMID:31462754|PMID:31589614|PMID:32161153|PMID:32313153|PMID:33300680|PMID:35188226|PMID:35237671|PMID:35286480|PMID:35756861|PMID:37784170|PMID:38703036|PMID:8130196
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0111518	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5		ISO	RGD:1314438	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0111518	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5		ISO	RGD:1314438	D	RGD:7240710	20130221	OMIM			
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0111518	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5		ISO	RGD:1314438	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	PMID:06|PMID:10|PMID:1016|PMID:12859174|PMID:17486094|PMID:18504129|PMID:19125351|PMID:19664747|PMID:2014|PMID:21378381|PMID:21646632|PMID:23107649|PMID:24086434|PMID:244|PMID:25502805|PMID:25741868|PMID:28492532|PMID:28639102|PMID:28812649|PMID:29241262|PMID:30049826|PMID:31462754|PMID:31794469|PMID:33144682|PMID:34706366|PMID:38434220|PMID:38991193|PMID:8130196
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1314438	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:21951382|PMID:25741868|PMID:28492532
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:1115	sarcoma		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:11830	myopia		ISO	RGD:1314438	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:18504129|PMID:23107649|PMID:24086434|PMID:25741868|PMID:28492532|PMID:30049826|PMID:31462754
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:1324	lung cancer		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:3070	high grade glioma		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:3459	breast carcinoma		ISO	RGD:1314438	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:18504129|PMID:23107649|PMID:24086434|PMID:25741868|PMID:28492532|PMID:30049826|PMID:31462754
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:3650	lactic acidosis		ISO	RGD:1314438	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19138848
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314438	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:539	ophthalmoplegia		ISO	RGD:1314438	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ophthalmoplegia	PMID:21951382|PMID:23107649|PMID:25741868|PMID:28492532|PMID:32161153
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:557	kidney disease		ISO	RGD:1314438	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19138848
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314438	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:19138848|PMID:21297166|PMID:21646632|PMID:25741868|PMID:27290639|PMID:28482374|PMID:28492532|PMID:30909120|PMID:33300680|PMID:35188226|PMID:35756861
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:576	proteinuria		ISO	RGD:1314438	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:21951382|PMID:25741868|PMID:28492532
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:630	genetic disease		ISO	RGD:1314438	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36959467
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1314438	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17486094|PMID:19138848
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314438	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9001722	Dysarthria		ISO	RGD:1314438	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:23107649|PMID:25741868|PMID:28492532|PMID:32161153
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9004493	Camptocormia		ISO	RGD:1314438	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Camptocormia	PMID:17486094|PMID:21378381|PMID:23107649|PMID:25741868|PMID:26969127|PMID:28492532|PMID:31462754|PMID:31521625|PMID:39533303
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9004658	Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction		ISO	RGD:1314438	D	RGD:7240710	20220316	OMIM			
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9004658	Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction		ISO	RGD:1314438	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction	PMID:06|PMID:10|PMID:1016|PMID:12859174|PMID:17486094|PMID:18504129|PMID:19125351|PMID:2014|PMID:21378381|PMID:23107649|PMID:24086434|PMID:244|PMID:25502805|PMID:25741868|PMID:28492532|PMID:28639102|PMID:30049826|PMID:31462754|PMID:32827185|PMID:8130196
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314438	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19138848
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314438	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306045	Rrm2b	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306047	Reep5	receptor accessory protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306047	Reep5	receptor accessory protein 5	gene	DOID:13580	cholestasis		ISO	RGD:1314440	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1306047	Reep5	receptor accessory protein 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314440	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306047	Reep5	receptor accessory protein 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306047	Reep5	receptor accessory protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306047	Reep5	receptor accessory protein 5	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1314440	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1306047	Reep5	receptor accessory protein 5	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1314440	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1306048	Tube1	tubulin, epsilon 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306048	Tube1	tubulin, epsilon 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306048	Tube1	tubulin, epsilon 1	gene	DOID:0060058	lymphoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306048	Tube1	tubulin, epsilon 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306048	Tube1	tubulin, epsilon 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306048	Tube1	tubulin, epsilon 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306048	Tube1	tubulin, epsilon 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306048	Tube1	tubulin, epsilon 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314442	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306048	Tube1	tubulin, epsilon 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306048	Tube1	tubulin, epsilon 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306048	Tube1	tubulin, epsilon 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306048	Tube1	tubulin, epsilon 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306048	Tube1	tubulin, epsilon 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306049	Smox	spermine oxidase	gene	DOID:0051061	stroke		ISO	RGD:1314443	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16269634
1306049	Smox	spermine oxidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306049	Smox	spermine oxidase	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1314443	D	RGD:11554173	20190409	CTD		CTD Direct Evidence: marker/mechanism	PMID:30576531
1306049	Smox	spermine oxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306049	Smox	spermine oxidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306049	Smox	spermine oxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306049	Smox	spermine oxidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306050	Gdap2	ganglioside-induced differentiation-associated-protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306050	Gdap2	ganglioside-induced differentiation-associated-protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306050	Gdap2	ganglioside-induced differentiation-associated-protein 2	gene	DOID:0111616	autosomal recessive spinocerebellar ataxia 27		ISO	RGD:1314445	D	RGD:7240710	20190424	OMIM			
1306050	Gdap2	ganglioside-induced differentiation-associated-protein 2	gene	DOID:0111616	autosomal recessive spinocerebellar ataxia 27		ISO	RGD:1314445	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GDAP2-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27 | ClinVar Annotator: match by term: spinocerebellar ataxia, autosomal recessive 27	PMID:25741868
1306050	Gdap2	ganglioside-induced differentiation-associated-protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1314445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306050	Gdap2	ganglioside-induced differentiation-associated-protein 2	gene	DOID:1909	melanoma		ISO	RGD:1314445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306050	Gdap2	ganglioside-induced differentiation-associated-protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306050	Gdap2	ganglioside-induced differentiation-associated-protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306050	Gdap2	ganglioside-induced differentiation-associated-protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306050	Gdap2	ganglioside-induced differentiation-associated-protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306050	Gdap2	ganglioside-induced differentiation-associated-protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306050	Gdap2	ganglioside-induced differentiation-associated-protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306050	Gdap2	ganglioside-induced differentiation-associated-protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306051	Nipa2	NIPA magnesium transporter 2	gene	DOID:0070309	absence epilepsy		ISO	RGD:1348761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:22367439|PMID:25347071|PMID:25741868
1306051	Nipa2	NIPA magnesium transporter 2	gene	DOID:1826	epilepsy		ISO	RGD:1348761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22367439|PMID:25347071|PMID:25741868
1306051	Nipa2	NIPA magnesium transporter 2	gene	DOID:1909	melanoma		ISO	RGD:1348761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306051	Nipa2	NIPA magnesium transporter 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348761	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306051	Nipa2	NIPA magnesium transporter 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306051	Nipa2	NIPA magnesium transporter 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306051	Nipa2	NIPA magnesium transporter 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306053	Necap1	NECAP endocytosis associated 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1603669	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	
1306053	Necap1	NECAP endocytosis associated 1	gene	DOID:0080443	developmental and epileptic encephalopathy 21		ISO	RGD:1603669	D	RGD:7240710	20140911	OMIM			
1306053	Necap1	NECAP endocytosis associated 1	gene	DOID:0080443	developmental and epileptic encephalopathy 21		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 | ClinVar Annotator: match by term: NECAP1-related disorder	PMID:17576681|PMID:24399846|PMID:25741868|PMID:28492532|PMID:30626896|PMID:9536098
1306053	Necap1	NECAP endocytosis associated 1	gene	DOID:1059	intellectual disability		ISO	RGD:1603669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1306053	Necap1	NECAP endocytosis associated 1	gene	DOID:1826	epilepsy		ISO	RGD:1603669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1306053	Necap1	NECAP endocytosis associated 1	gene	DOID:1909	melanoma		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306053	Necap1	NECAP endocytosis associated 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306053	Necap1	NECAP endocytosis associated 1	gene	DOID:630	genetic disease		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306053	Necap1	NECAP endocytosis associated 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1306053	Necap1	NECAP endocytosis associated 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1306053	Necap1	NECAP endocytosis associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1306055	Pea15	proliferation and apoptosis adaptor protein 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306055	Pea15	proliferation and apoptosis adaptor protein 15	gene	DOID:1324	lung cancer		ISO	RGD:1314452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306055	Pea15	proliferation and apoptosis adaptor protein 15	gene	DOID:4362	cervical cancer		ISO	RGD:1314452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306055	Pea15	proliferation and apoptosis adaptor protein 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306055	Pea15	proliferation and apoptosis adaptor protein 15	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314453	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306056	Helz2	helicase with zinc finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:1115	sarcoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:1324	lung cancer		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1604565	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
1306056	Helz2	helicase with zinc finger 2	gene	DOID:1909	melanoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:3275	thymoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306056	Helz2	helicase with zinc finger 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: lissencephaly	PMID:30471716
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:1352225	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:0112228	lissencephaly 9 with complex brainstem malformation		ISO	RGD:1352225	D	RGD:7240710	20190315	OMIM			
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:0112228	lissencephaly 9 with complex brainstem malformation		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION | ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation | ClinVar Annotator: match by term: Lissencephaly with decussation defect | ClinVar Annotator: match by term: MACF1-related condition | ClinVar Annotator: match by term: Spectraplakinopathy type I | ClinVar Annotator: match by term: lissencephaly with brainstem hypoplasia	PMID:24507697|PMID:25741868|PMID:28492532|PMID:29706646|PMID:30471716
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1352225	D	RGD:8554872	20171212	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1352225	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:11830	myopia		ISO	RGD:1352225	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1352225	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:1909	melanoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:3275	thymoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352225	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:630	genetic disease		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:9004125	Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas		ISO	RGD:1352225	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Facial hemangioma	PMID:31474318
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352225	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:40925378|PMID:41629993
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1352225	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352225	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306057	Macf1	microtubule-actin crosslinking factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306058	Card19	caspase recruitment domain family, member 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306058	Card19	caspase recruitment domain family, member 19	gene	DOID:1115	sarcoma		ISO	RGD:1314456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306058	Card19	caspase recruitment domain family, member 19	gene	DOID:3275	thymoma		ISO	RGD:1314456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306058	Card19	caspase recruitment domain family, member 19	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314456	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306058	Card19	caspase recruitment domain family, member 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306058	Card19	caspase recruitment domain family, member 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306058	Card19	caspase recruitment domain family, member 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314459	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:0080600	COVID-19		ISO	RGD:1314459	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:1115	sarcoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:1324	lung cancer		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:3275	thymoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1306061	Pgm2	phosphoglucomutase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:0111414	trichohepatoenteric syndrome		ISO	RGD:1314461	D	RGD:11554173	20190326	CTD		CTD Direct Evidence: marker/mechanism	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:0111414	trichohepatoenteric syndrome		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA | ClinVar Annotator: match by term: Tricho-hepato-enteric syndrome | ClinVar Annotator: match by term: Trichohepatoenteric syndrome	PMID:16199547|PMID:20176027|PMID:21120949|PMID:24033266|PMID:25741868|PMID:26283345|PMID:26945392|PMID:27050310|PMID:28492532|PMID:32499645|PMID:35366317|PMID:35626323
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:0111415	trichohepatoenteric syndrome 1		ISO	RGD:1314461	D	RGD:7240710	20141015	OMIM			
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:0111415	trichohepatoenteric syndrome 1		ISO	RGD:1314461	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: TRICHOHEPATOENTERIC SYNDROME 1 | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1	PMID:16199547|PMID:20176027|PMID:21120949|PMID:23326254|PMID:23974064|PMID:25714577|PMID:25741868|PMID:26283345|PMID:26945392|PMID:27050310|PMID:27302973|PMID:28492532|PMID:29527791|PMID:32499645|PMID:33864888|PMID:35108801|PMID:35366317|PMID:35599849|PMID:35626323
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:10283	prostate cancer		ISO	RGD:1314461	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:10283	prostate cancer		ISO	RGD:1314461	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:10534	stomach cancer		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:1115	sarcoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:12642	hiatus hernia		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatal hernia	PMID:25741868
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:1324	lung cancer		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:1909	melanoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:2394	ovarian cancer		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:16199547|PMID:20176027|PMID:21120949|PMID:25741868|PMID:28492532|PMID:32499645
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:630	genetic disease		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20176027|PMID:21120949|PMID:25741868|PMID:28492532
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306062	Skic3	SKI3 subunit of superkiller complex	gene	DOID:9256	colorectal cancer		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306063	Cep15	centrosomal protein 15	gene	DOID:1115	sarcoma		ISO	RGD:1347639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306063	Cep15	centrosomal protein 15	gene	DOID:1324	lung cancer		ISO	RGD:1347639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306063	Cep15	centrosomal protein 15	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306063	Cep15	centrosomal protein 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306064	Dennd6a	DENN domain containing 6A	gene	DOID:1909	melanoma		ISO	RGD:1606682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306064	Dennd6a	DENN domain containing 6A	gene	DOID:4362	cervical cancer		ISO	RGD:1606682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306064	Dennd6a	DENN domain containing 6A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606682	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306064	Dennd6a	DENN domain containing 6A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306065	Snrpc	small nuclear ribonucleoprotein polypeptide C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306065	Snrpc	small nuclear ribonucleoprotein polypeptide C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306065	Snrpc	small nuclear ribonucleoprotein polypeptide C	gene	DOID:10534	stomach cancer		ISO	RGD:1314465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306065	Snrpc	small nuclear ribonucleoprotein polypeptide C	gene	DOID:3492	mixed connective tissue disease		ISO	RGD:1314465	D	RGD:10766447|PMID:10555891	20160205	RGD		associated with Hypertension, Pulmonary	
1306065	Snrpc	small nuclear ribonucleoprotein polypeptide C	gene	DOID:4362	cervical cancer		ISO	RGD:1314465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306065	Snrpc	small nuclear ribonucleoprotein polypeptide C	gene	DOID:65	connective tissue disease		ISO	RGD:1314465	D	RGD:10448928|PMID:2968364	20160202	RGD			
1306065	Snrpc	small nuclear ribonucleoprotein polypeptide C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306065	Snrpc	small nuclear ribonucleoprotein polypeptide C	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1314465	D	RGD:10766446|PMID:8647956	20160205	RGD			
1306065	Snrpc	small nuclear ribonucleoprotein polypeptide C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306067	Esf1	ESF1 nucleolar pre-rRNA processing protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306067	Esf1	ESF1 nucleolar pre-rRNA processing protein	gene	DOID:10534	stomach cancer		ISO	RGD:1314468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306067	Esf1	ESF1 nucleolar pre-rRNA processing protein	gene	DOID:1324	lung cancer		ISO	RGD:1314468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306067	Esf1	ESF1 nucleolar pre-rRNA processing protein	gene	DOID:1909	melanoma		ISO	RGD:1314468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306067	Esf1	ESF1 nucleolar pre-rRNA processing protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306067	Esf1	ESF1 nucleolar pre-rRNA processing protein	gene	DOID:3275	thymoma		ISO	RGD:1314468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306067	Esf1	ESF1 nucleolar pre-rRNA processing protein	gene	DOID:4362	cervical cancer		ISO	RGD:1314468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306067	Esf1	ESF1 nucleolar pre-rRNA processing protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306067	Esf1	ESF1 nucleolar pre-rRNA processing protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306067	Esf1	ESF1 nucleolar pre-rRNA processing protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306067	Esf1	ESF1 nucleolar pre-rRNA processing protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306068	Arhgap1	Rho GTPase activating protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306068	Arhgap1	Rho GTPase activating protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306068	Arhgap1	Rho GTPase activating protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1314470	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:34006635
1306068	Arhgap1	Rho GTPase activating protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306068	Arhgap1	Rho GTPase activating protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306068	Arhgap1	Rho GTPase activating protein 1	gene	DOID:1909	melanoma		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306068	Arhgap1	Rho GTPase activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306068	Arhgap1	Rho GTPase activating protein 1	gene	DOID:9000053	Headache		ISO	RGD:1314470	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868|PMID:34006635
1306068	Arhgap1	Rho GTPase activating protein 1	gene	DOID:9002644	Premature Aging		ISO	RGD:1314471	D	RGD:10043350|PMID:17227869	20150522	RGD			
1306068	Arhgap1	Rho GTPase activating protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306068	Arhgap1	Rho GTPase activating protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314470	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:34006635
1306068	Arhgap1	Rho GTPase activating protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306068	Arhgap1	Rho GTPase activating protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314470	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:0060265	pontocerebellar hypoplasia type 1A		ISO	RGD:1314472	D	RGD:7240710	20130221	OMIM			
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:0060265	pontocerebellar hypoplasia type 1A		ISO	RGD:1314472	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia type 1 | ClinVar Annotator: match by term: Distal hereditary motor neuropathy associated with upper motor neuron signs | ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A | ClinVar Annotator: match by term: Pontocerebellar hypoplasia with anterior horn cell disease | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1a	PMID:16199547|PMID:17576681|PMID:18414213|PMID:19646678|PMID:19763152|PMID:20307669|PMID:21920476|PMID:21937992|PMID:22406018|PMID:24088041|PMID:24126608|PMID:25356970|PMID:25741868|PMID:26467025|PMID:26583493|PMID:26633545|PMID:27281532|PMID:28492532|PMID:30108342|PMID:30214071|PMID:31069529|PMID:31090908|PMID:31167812|PMID:31178479|PMID:31527692|PMID:31560180|PMID:31777123|PMID:31837156|PMID:32242460|PMID:32365420|PMID:32579787|PMID:33522008|PMID:34169149|PMID:34504951|PMID:34906498|PMID:34983064|PMID:35032046|PMID:35641352|PMID:37257665|PMID:38554151|PMID:38806131|PMID:9536098
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:0060266	pontocerebellar hypoplasia type 1B		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B	PMID:25741868
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:0060839	isolated microphthalmia 2		ISO	RGD:1314472	D	RGD:8554872	20210810	ClinVar		ClinVar Annotator: match by term: Isolated microphthalmia 2	PMID:25741868|PMID:28492532
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:0081429	autosomal recessive distal hereditary motor neuronopathy 10		ISO	RGD:1314472	D	RGD:7240710	20231101	OMIM			
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:0081429	autosomal recessive distal hereditary motor neuronopathy 10		ISO	RGD:1314472	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 10	PMID:19646678|PMID:21920476|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:30108342|PMID:30617279|PMID:30847374|PMID:31527692|PMID:32298515|PMID:34169149|PMID:35032046
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:0111197	autosomal recessive distal hereditary motor neuronopathy		ISO	RGD:1314472	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive	PMID:18414213|PMID:25741868|PMID:28492532|PMID:31837156|PMID:35641352|PMID:37257665
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:0112322	pontocerebellar hypoplasia type 1		ISO	RGD:1314472	D	RGD:11554173	20190723	CTD		CTD Direct Evidence: marker/mechanism	
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:0112322	pontocerebellar hypoplasia type 1		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1	PMID:28492532
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314472	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:11162	respiratory failure		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:19646678|PMID:21920476|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:30108342|PMID:31527692|PMID:35032046
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:11830	myopia		ISO	RGD:1314472	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:18414213|PMID:25741868|PMID:28492532|PMID:31837156|PMID:35641352|PMID:37257665
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1314472	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy	PMID:18414213|PMID:25741868|PMID:28492532|PMID:31837156|PMID:35641352|PMID:37257665
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1314472	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:18414213|PMID:25741868|PMID:28492532|PMID:31837156|PMID:35641352|PMID:37257665
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1314472	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression	PMID:18414213|PMID:19646678|PMID:21920476|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:30108342|PMID:31527692|PMID:31837156|PMID:35032046|PMID:35641352|PMID:37257665
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1314472	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:18414213|PMID:19646678|PMID:21920476|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:30108342|PMID:31527692|PMID:31837156|PMID:35032046|PMID:35641352|PMID:37257665
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532|PMID:31090908
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1314472	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:18414213|PMID:25741868|PMID:28492532|PMID:31837156|PMID:35641352|PMID:37257665
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:480	movement disease		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:19646678|PMID:21920476|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:30108342|PMID:31527692|PMID:35032046
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314472	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1314472	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532|PMID:31090908
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:630	genetic disease		ISO	RGD:1314472	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:18414213|PMID:19646678|PMID:21920476|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:30108342|PMID:31090908|PMID:31527692|PMID:31837156|PMID:35032046|PMID:35641352|PMID:37257665|PMID:9536098
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:19646678|PMID:21920476|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:30108342|PMID:31527692|PMID:35032046
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:19646678|PMID:21920476|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:30108342|PMID:31527692|PMID:35032046
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:19646678|PMID:21920476|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:30108342|PMID:31527692|PMID:35032046
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:19646678|PMID:21920476|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:30108342|PMID:31527692|PMID:35032046
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314472	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:18414213|PMID:25741868|PMID:28492532|PMID:31837156|PMID:35641352|PMID:37257665
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306069	Vrk1	VRK serine/threonine kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:0110383	retinitis pigmentosa 7		ISO	RGD:1314474	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:0110383	retinitis pigmentosa 7		ISO	RGD:1314474	D	RGD:7240710	20130717	OMIM			
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:0110383	retinitis pigmentosa 7		ISO	RGD:1314474	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 7, DIGENIC | ClinVar Annotator: match by term: ROM1-related condition	PMID:25741868|PMID:28492532|PMID:31816670|PMID:36819107|PMID:38540785|PMID:8202715|PMID:8595413
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314474	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314474	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314474	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:33688152|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314474	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:33688152|PMID:34148116|PMID:3442652|PMID:35353811|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:24938718|PMID:25741868|PMID:28492532
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:5723	optic atrophy		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:8466	retinal degeneration		ISO	RGD:1314475	D	RGD:8553197|PMID:10802659	20140507	RGD			
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11297544|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28912962|PMID:29155698|PMID:30718709|PMID:30820151|PMID:31054281|PMID:34148116|PMID:34426522|PMID:35353811|PMID:8595413|PMID:9331261
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306070	Rom1	retinal outer segment membrane protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306071	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306071	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:12849	autistic disorder		ISO	RGD:1314476	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14627686
1306071	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:1909	melanoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306071	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:4362	cervical cancer		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306071	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314476	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306071	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306071	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306071	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:674	cleft palate		ISO	RGD:1314476	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1306071	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306071	Inpp1	inositol polyphosphate-1-phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306072	Brme1	break repair meiotic recombinase recruitment factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306072	Brme1	break repair meiotic recombinase recruitment factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1603955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306072	Brme1	break repair meiotic recombinase recruitment factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306072	Brme1	break repair meiotic recombinase recruitment factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306072	Brme1	break repair meiotic recombinase recruitment factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306072	Brme1	break repair meiotic recombinase recruitment factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306072	Brme1	break repair meiotic recombinase recruitment factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:25741868
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:0060249	scoliosis		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:0060604	ankyloglossia		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	PMID:25741868
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:11963	esophagitis		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophagitis	PMID:25741868
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:1909	melanoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:3275	thymoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1603688	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:630	genetic disease		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto thyroiditis	PMID:25741868
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:33726816
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9003163	Heart Block		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart block	PMID:25741868
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9004266	Patellar Dislocation		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patellar dislocation	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300|PMID:33726816
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9005349	Three M Syndrome 1		ISO	RGD:1603688	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: 3M syndrome 1	PMID:25741868|PMID:30980518
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9006598	Three M Syndrome 2		ISO	RGD:1603688	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9006598	Three M Syndrome 2		ISO	RGD:1603688	D	RGD:7240710	20130221	OMIM			
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9006598	Three M Syndrome 2		ISO	RGD:1603688	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: 3M syndrome 2	PMID:16531729|PMID:17681982|PMID:19481195|PMID:19877176|PMID:20164589|PMID:25741868|PMID:25923536|PMID:26627873|PMID:27796265|PMID:27959697|PMID:28492532|PMID:28969986|PMID:30980518|PMID:33135300
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9006598	Three M Syndrome 2		ISO	RGD:1603688	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 3M syndrome 2 | ClinVar Annotator: match by term: OBSL1-related condition | ClinVar Annotator: match by term: THREE M SYNDROME 2 | ClinVar Annotator: match by term: Three M syndrome 2	PMID:16199547|PMID:17681982|PMID:19481195|PMID:19877176|PMID:20164589|PMID:25741868|PMID:27959697|PMID:28492532|PMID:28969986|PMID:33135300|PMID:33726816|PMID:33919104|PMID:36999085|PMID:37520055|PMID:37780995|PMID:38407006
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1306073	Obsl1	obscurin like cytoskeletal adaptor 1	gene	DOID:9008965	Bronchomalacia		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchomalacia	PMID:25741868
1306074	Mymk	myomaker, myoblast fusion factor	gene	DOID:0061115	Carey-Fineman-Ziter syndrome 1		ISO	RGD:3302829	D	RGD:7240710	20220706	OMIM			
1306074	Mymk	myomaker, myoblast fusion factor	gene	DOID:0061115	Carey-Fineman-Ziter syndrome 1		ISO	RGD:3302829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1	PMID:25741868|PMID:28681861|PMID:29560417|PMID:30016436|PMID:30065953|PMID:32528171|PMID:32573669
1306074	Mymk	myomaker, myoblast fusion factor	gene	DOID:0080194	Carey-Fineman-Ziter syndrome		ISO	RGD:3302829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAREY-FINEMAN-ZITER SYNDROME | ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome | ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences	PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:32528171|PMID:32573669
1306074	Mymk	myomaker, myoblast fusion factor	gene	DOID:327	syringomyelia		ISO	RGD:3302829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Syringomyelia	PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:32528171|PMID:32573669
1306074	Mymk	myomaker, myoblast fusion factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:3302829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1306074	Mymk	myomaker, myoblast fusion factor	gene	DOID:630	genetic disease		ISO	RGD:3302829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306074	Mymk	myomaker, myoblast fusion factor	gene	DOID:9003816	Macrocephaly		ISO	RGD:3302829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:32528171|PMID:32573669
1306074	Mymk	myomaker, myoblast fusion factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:3302829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:32528171|PMID:32573669
1306074	Mymk	myomaker, myoblast fusion factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:3302829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:32528171|PMID:32573669
1306074	Mymk	myomaker, myoblast fusion factor	gene	DOID:9005616	Micrognathism		ISO	RGD:3302829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:32528171|PMID:32573669
1306076	Ntsr1	neurotensin receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306076	Ntsr1	neurotensin receptor 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1314483	D	RGD:596948429|PMID:23743782	20250110	RGD		DNA:SNPs,haplotype::rs6011914,rs2427422(human)	
1306076	Ntsr1	neurotensin receptor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24781735
1306076	Ntsr1	neurotensin receptor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1314483	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306076	Ntsr1	neurotensin receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1314483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306076	Ntsr1	neurotensin receptor 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1314483	D	RGD:9743906|PMID:7700529	20150219	RGD			
1306076	Ntsr1	neurotensin receptor 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1314483	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1306076	Ntsr1	neurotensin receptor 1	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:1314483	D	RGD:11522680|PMID:26384852	20250114	RGD		DNA:SNP:intron:rs3915568(human)	
1306076	Ntsr1	neurotensin receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314483	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306076	Ntsr1	neurotensin receptor 1	gene	DOID:5419	schizophrenia		ISO	RGD:1314483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20659557
1306076	Ntsr1	neurotensin receptor 1	gene	DOID:5419	schizophrenia		ISO	RGD:1314483	D	RGD:36947392	20200803	RGD		DNA:repeat:enhancer:	
1306076	Ntsr1	neurotensin receptor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306076	Ntsr1	neurotensin receptor 1	gene	DOID:9000641	Pain		ISO	RGD:1314483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:20727387
1306076	Ntsr1	neurotensin receptor 1	gene	DOID:9002211	Hyperalgesia		IDA		D	RGD:9743902|PMID:22396077	20150218	RGD			
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:0060611	abdominal obesity-metabolic syndrome		ISS	RGD:1314486	D	RGD:13592920	20180518	MouseDO			
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:10603	glucose intolerance		ISO	RGD:1314485	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21285402
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1314485	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21285402
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:1314485	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16446448
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314485	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1314485	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16446448
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1314485	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16446448|PMID:17389588
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1314485	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21285402
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1314485	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16446448|PMID:21285402
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:9970	obesity		ISO	RGD:1314485	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16446448|PMID:21285402
1306077	Neil1	nei-like DNA glycosylase 1	gene	DOID:9970	obesity		ISS	RGD:1314486	D	RGD:13592920	20230718	MouseDO		OMIM:601665	
1306078	Cyp2s1	cytochrome P450, family 2, subfamily s, polypeptide 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306078	Cyp2s1	cytochrome P450, family 2, subfamily s, polypeptide 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314487	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1306078	Cyp2s1	cytochrome P450, family 2, subfamily s, polypeptide 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306078	Cyp2s1	cytochrome P450, family 2, subfamily s, polypeptide 1	gene	DOID:1324	lung cancer		ISO	RGD:1314487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306078	Cyp2s1	cytochrome P450, family 2, subfamily s, polypeptide 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306078	Cyp2s1	cytochrome P450, family 2, subfamily s, polypeptide 1	gene	DOID:8893	psoriasis		ISO	RGD:1314487	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12711469
1306078	Cyp2s1	cytochrome P450, family 2, subfamily s, polypeptide 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306078	Cyp2s1	cytochrome P450, family 2, subfamily s, polypeptide 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306078	Cyp2s1	cytochrome P450, family 2, subfamily s, polypeptide 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306079	Sema3g	semaphorin 3G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306079	Sema3g	semaphorin 3G	gene	DOID:1324	lung cancer		ISO	RGD:1601989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306079	Sema3g	semaphorin 3G	gene	DOID:4362	cervical cancer		ISO	RGD:1601989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306079	Sema3g	semaphorin 3G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306079	Sema3g	semaphorin 3G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306080	Blvrb	biliverdin reductase B	gene	DOID:1324	lung cancer		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306080	Blvrb	biliverdin reductase B	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1314490	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
1306080	Blvrb	biliverdin reductase B	gene	DOID:4362	cervical cancer		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306080	Blvrb	biliverdin reductase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306080	Blvrb	biliverdin reductase B	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1314490	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19424620
1306080	Blvrb	biliverdin reductase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306080	Blvrb	biliverdin reductase B	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1314490	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1306080	Blvrb	biliverdin reductase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306081	Ccdc12	coiled-coil domain containing 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306081	Ccdc12	coiled-coil domain containing 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306081	Ccdc12	coiled-coil domain containing 12	gene	DOID:10534	stomach cancer		ISO	RGD:1343271	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306081	Ccdc12	coiled-coil domain containing 12	gene	DOID:1115	sarcoma		ISO	RGD:1343271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306081	Ccdc12	coiled-coil domain containing 12	gene	DOID:1909	melanoma		ISO	RGD:1343271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306081	Ccdc12	coiled-coil domain containing 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306081	Ccdc12	coiled-coil domain containing 12	gene	DOID:4362	cervical cancer		ISO	RGD:1343271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306081	Ccdc12	coiled-coil domain containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306081	Ccdc12	coiled-coil domain containing 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306081	Ccdc12	coiled-coil domain containing 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306083	Cabp4	calcium binding protein 4	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1314493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:25741868
1306083	Cabp4	calcium binding protein 4	gene	DOID:0080600	COVID-19		ISO	RGD:1314493	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306083	Cabp4	calcium binding protein 4	gene	DOID:13911	achromatopsia		ISO	RGD:1314493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Achromatopsia	PMID:30718709
1306083	Cabp4	calcium binding protein 4	gene	DOID:5723	optic atrophy		ISO	RGD:1314493	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1306083	Cabp4	calcium binding protein 4	gene	DOID:630	genetic disease		ISO	RGD:1314493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306083	Cabp4	calcium binding protein 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1314493	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25307992|PMID:25741868|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29525873|PMID:30718709|PMID:31456290|PMID:31964843|PMID:32581362|PMID:34426522|PMID:34758253
1306083	Cabp4	calcium binding protein 4	gene	DOID:9004066	Congenital Stationary Night Blindness 2B		ISO	RGD:1314493	D	RGD:7240710	20130221	OMIM			
1306083	Cabp4	calcium binding protein 4	gene	DOID:9004066	Congenital Stationary Night Blindness 2B		ISO	RGD:1314493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CABP4-related condition | ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive	PMID:16960802|PMID:19074807|PMID:20157620|PMID:23099293|PMID:25258313|PMID:25307992|PMID:25741868|PMID:28492532|PMID:37734845
1306083	Cabp4	calcium binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306084	Cyb5r1	cytochrome b5 reductase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306084	Cyb5r1	cytochrome b5 reductase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306084	Cyb5r1	cytochrome b5 reductase 1	gene	DOID:1115	sarcoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306084	Cyb5r1	cytochrome b5 reductase 1	gene	DOID:1324	lung cancer		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306084	Cyb5r1	cytochrome b5 reductase 1	gene	DOID:3275	thymoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306084	Cyb5r1	cytochrome b5 reductase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306084	Cyb5r1	cytochrome b5 reductase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306084	Cyb5r1	cytochrome b5 reductase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306084	Cyb5r1	cytochrome b5 reductase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306084	Cyb5r1	cytochrome b5 reductase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306084	Cyb5r1	cytochrome b5 reductase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306084	Cyb5r1	cytochrome b5 reductase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306084	Cyb5r1	cytochrome b5 reductase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306084	Cyb5r1	cytochrome b5 reductase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306086	Riok1	RIO kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306086	Riok1	RIO kinase 1	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1306086	Riok1	RIO kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306086	Riok1	RIO kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1314499	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306086	Riok1	RIO kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306086	Riok1	RIO kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306086	Riok1	RIO kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306086	Riok1	RIO kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306086	Riok1	RIO kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314499	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306086	Riok1	RIO kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306086	Riok1	RIO kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306086	Riok1	RIO kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:0110002	3-methylglutaconic aciduria type 1		ISO	RGD:1314501	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:0110002	3-methylglutaconic aciduria type 1		ISO	RGD:1314501	D	RGD:7240710	20130221	OMIM			
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:0110002	3-methylglutaconic aciduria type 1		ISO	RGD:1314501	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type I | ClinVar Annotator: match by term: AUH-related disorder	PMID:10070612|PMID:12434311|PMID:12655555|PMID:16199547|PMID:16354225|PMID:16640564|PMID:17576681|PMID:20855850|PMID:20882351|PMID:21840233|PMID:24598254|PMID:25741868|PMID:28438368|PMID:28492532|PMID:31069529|PMID:32180488|PMID:34302356|PMID:35810438|PMID:36341175|PMID:9536098
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:1115	sarcoma		ISO	RGD:1314501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:1324	lung cancer		ISO	RGD:1314501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:3275	thymoma		ISO	RGD:1314501	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:447	renal tubular transport disease	susceptibility	ISO	RGD:1314501	D	RGD:1599425|PMID:12434311	20070201	RGD			
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314501	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314501	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:6039	uveal melanoma		ISO	RGD:1314501	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:630	genetic disease		ISO	RGD:1314501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314501	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306087	Auh	AU RNA binding methylglutaconyl-CoA hydratase	gene	DOID:9256	colorectal cancer		ISO	RGD:1314501	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1306088	Sfxn4	sideroflexin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306088	Sfxn4	sideroflexin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306088	Sfxn4	sideroflexin 4	gene	DOID:0111484	combined oxidative phosphorylation deficiency 18		ISO	RGD:1314503	D	RGD:7240710	20140911	OMIM			
1306088	Sfxn4	sideroflexin 4	gene	DOID:0111484	combined oxidative phosphorylation deficiency 18		ISO	RGD:1314503	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 18 | ClinVar Annotator: match by term: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | ClinVar Annotator: match by term: SFXN4-related condition	PMID:16199547|PMID:24119684|PMID:25741868|PMID:28492532|PMID:38703036
1306088	Sfxn4	sideroflexin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306088	Sfxn4	sideroflexin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306088	Sfxn4	sideroflexin 4	gene	DOID:1115	sarcoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306088	Sfxn4	sideroflexin 4	gene	DOID:1324	lung cancer		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306088	Sfxn4	sideroflexin 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1306088	Sfxn4	sideroflexin 4	gene	DOID:1909	melanoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306088	Sfxn4	sideroflexin 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306088	Sfxn4	sideroflexin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306088	Sfxn4	sideroflexin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306088	Sfxn4	sideroflexin 4	gene	DOID:630	genetic disease		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306088	Sfxn4	sideroflexin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306088	Sfxn4	sideroflexin 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306088	Sfxn4	sideroflexin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306089	Mnda	myeloid cell nuclear differentiation antigen	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306089	Mnda	myeloid cell nuclear differentiation antigen	gene	DOID:4362	cervical cancer		ISO	RGD:1314505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306089	Mnda	myeloid cell nuclear differentiation antigen	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306089	Mnda	myeloid cell nuclear differentiation antigen	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1557521	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306091	Map3k21	mitogen-activated protein kinase kinase kinase 21	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306091	Map3k21	mitogen-activated protein kinase kinase kinase 21	gene	DOID:10534	stomach cancer		ISO	RGD:1601734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306091	Map3k21	mitogen-activated protein kinase kinase kinase 21	gene	DOID:1324	lung cancer		ISO	RGD:1601734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306091	Map3k21	mitogen-activated protein kinase kinase kinase 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306091	Map3k21	mitogen-activated protein kinase kinase kinase 21	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306091	Map3k21	mitogen-activated protein kinase kinase kinase 21	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306091	Map3k21	mitogen-activated protein kinase kinase kinase 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306091	Map3k21	mitogen-activated protein kinase kinase kinase 21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306092	Rnf6	ring finger protein 6	gene	DOID:1324	lung cancer		ISO	RGD:1314509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306092	Rnf6	ring finger protein 6	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1314509	D	RGD:1599613|PMID:12154016	20070208	RGD			
1306092	Rnf6	ring finger protein 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306092	Rnf6	ring finger protein 6	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1314509	D	RGD:7240710	20240207	OMIM			
1306092	Rnf6	ring finger protein 6	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1314509	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC	
1306092	Rnf6	ring finger protein 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306092	Rnf6	ring finger protein 6	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1314509	D	RGD:151665757|PMID:30496760	20220331	RGD			
1306092	Rnf6	ring finger protein 6	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1314509	D	RGD:11554173	20180424	CTD		CTD Direct Evidence: marker/mechanism	
1306092	Rnf6	ring finger protein 6	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314509	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:0060227	Adams-Oliver syndrome		ISO	RGD:1606256	D	RGD:11554173	20190319	CTD		CTD Direct Evidence: marker/mechanism	
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:0060227	Adams-Oliver syndrome		ISO	RGD:1606256	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS	PMID:25741868|PMID:28492532
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:0080600	COVID-19		ISO	RGD:1606256	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:10534	stomach cancer		ISO	RGD:1606256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:1059	intellectual disability		ISO	RGD:1606256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:1115	sarcoma		ISO	RGD:1606256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:12849	autistic disorder		ISO	RGD:1606256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:1969	cerebral palsy		ISO	RGD:1606256	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1606256	D	RGD:329970276|PMID:19706030	20230728	RGD		associated with nicotine dependence;DNA:SNP: (rs10934490) (human)	
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:630	genetic disease		ISO	RGD:1606256	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:9004220	Adams-Oliver Syndrome 1		ISO	RGD:1606256	D	RGD:7240710	20190315	OMIM			
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:9004220	Adams-Oliver Syndrome 1		ISO	RGD:1606256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADAMS-OLIVER SYNDROME 1 | ClinVar Annotator: match by term: ARHGAP31-related condition | ClinVar Annotator: match by term: Adams-Oliver syndrome 1	PMID:21565291|PMID:25741868|PMID:28492532|PMID:29924900
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1306093	Arhgap31	Rho GTPase activating protein 31	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306094	Lrrc66	leucine rich repeat containing 66	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306094	Lrrc66	leucine rich repeat containing 66	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306095	Zscan30	zinc finger and SCAN domain containing 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2290512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306095	Zscan30	zinc finger and SCAN domain containing 30	gene	DOID:9256	colorectal cancer		ISO	RGD:2290512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306096	Pym1	PYM1 exon junction complex associated factor	gene	DOID:1324	lung cancer		ISO	RGD:1601845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306096	Pym1	PYM1 exon junction complex associated factor	gene	DOID:4362	cervical cancer		ISO	RGD:1601845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306096	Pym1	PYM1 exon junction complex associated factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:10126	keratoconus		ISO	RGD:1314515	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Keratoconus	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:10534	stomach cancer		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:1115	sarcoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:1324	lung cancer		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:1909	melanoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:3275	thymoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:4362	cervical cancer		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314515	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306097	Dop1b	DOP1 leucine zipper like protein B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306098	Sae1	SUMO1 activating enzyme subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306098	Sae1	SUMO1 activating enzyme subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306098	Sae1	SUMO1 activating enzyme subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306098	Sae1	SUMO1 activating enzyme subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306098	Sae1	SUMO1 activating enzyme subunit 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1604646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306098	Sae1	SUMO1 activating enzyme subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306099	Itih1	inter-alpha trypsin inhibitor, heavy chain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306099	Itih1	inter-alpha trypsin inhibitor, heavy chain 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306099	Itih1	inter-alpha trypsin inhibitor, heavy chain 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1314518	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
1306099	Itih1	inter-alpha trypsin inhibitor, heavy chain 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306099	Itih1	inter-alpha trypsin inhibitor, heavy chain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306099	Itih1	inter-alpha trypsin inhibitor, heavy chain 1	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1314518	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
1306099	Itih1	inter-alpha trypsin inhibitor, heavy chain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306099	Itih1	inter-alpha trypsin inhibitor, heavy chain 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1314518	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:17114358
1306101	Cmip	c-Maf-inducing protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:0060058	lymphoma		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:10485	esophageal atresia		ISO	RGD:1603294	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:10534	stomach cancer		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:1324	lung cancer		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:1909	melanoma		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:3275	thymoma		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:4362	cervical cancer		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1603294	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306101	Cmip	c-Maf-inducing protein	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1603294	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
1306101	Cmip	c-Maf-inducing protein	gene	DOID:9970	obesity		ISO	RGD:1603294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1306102	Cage1	cancer antigen 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306102	Cage1	cancer antigen 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306102	Cage1	cancer antigen 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604175	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306102	Cage1	cancer antigen 1	gene	DOID:1909	melanoma		ISO	RGD:1604175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306102	Cage1	cancer antigen 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604175	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306103	Adpgk	ADP-dependent glucokinase	gene	DOID:1115	sarcoma		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306103	Adpgk	ADP-dependent glucokinase	gene	DOID:1909	melanoma		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306103	Adpgk	ADP-dependent glucokinase	gene	DOID:4362	cervical cancer		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306103	Adpgk	ADP-dependent glucokinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306103	Adpgk	ADP-dependent glucokinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306104	Commd4	COMM domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306104	Commd4	COMM domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1314525	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306104	Commd4	COMM domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1314525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306104	Commd4	COMM domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1314525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306104	Commd4	COMM domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1314525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306104	Commd4	COMM domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1314525	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306104	Commd4	COMM domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306104	Commd4	COMM domain containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306104	Commd4	COMM domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306105	Tmem150c	transmembrane protein 150C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:3564030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306105	Tmem150c	transmembrane protein 150C	gene	DOID:1909	melanoma		ISO	RGD:3564030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306105	Tmem150c	transmembrane protein 150C	gene	DOID:3275	thymoma		ISO	RGD:3564030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306105	Tmem150c	transmembrane protein 150C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:3564030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306105	Tmem150c	transmembrane protein 150C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:3564030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306106	Rrp15	ribosomal RNA processing 15 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606298	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306106	Rrp15	ribosomal RNA processing 15 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1606298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306106	Rrp15	ribosomal RNA processing 15 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1606298	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306106	Rrp15	ribosomal RNA processing 15 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1606298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306106	Rrp15	ribosomal RNA processing 15 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1606298	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306106	Rrp15	ribosomal RNA processing 15 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306106	Rrp15	ribosomal RNA processing 15 homolog	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306106	Rrp15	ribosomal RNA processing 15 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306106	Rrp15	ribosomal RNA processing 15 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306107	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306107	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306107	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306107	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:1324	lung cancer		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306107	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:1909	melanoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306107	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:3275	thymoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306107	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306107	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306107	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306107	Entrep3	endosomal transmembrane epsin interactor 3	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1314529	D	RGD:8554872	20210413	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:28492532
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0050840	cervical dystonia		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0060308	autosomal recessive intellectual developmental disorder		ISO	RGD:1606546	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability	PMID:25066123|PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0060340	ciliopathy		ISO	RGD:1606546	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ciliopathy	PMID:25741868|PMID:32461654|PMID:39168639
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Smith-Magenis Syndrome-like	PMID:25741868|PMID:27799067|PMID:28492532
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0080833	laryngomalacia		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0081179	autosomal recessive intellectual developmental disorder 3		ISO	RGD:1606546	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0081179	autosomal recessive intellectual developmental disorder 3		ISO	RGD:1606546	D	RGD:7240710	20130221	OMIM			
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:0081179	autosomal recessive intellectual developmental disorder 3		ISO	RGD:1606546	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CC2D1A-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 3	PMID:16033914|PMID:16199547|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1606546	D	RGD:11535973|PMID:22023432	20160926	RGD		DNA:SNPs, haplotype: :rs6511901, rs10410239 (human)	
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1606546	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:1115	sarcoma		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:1324	lung cancer		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:1826	epilepsy		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:1891	optic nerve disease		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:1969	cerebral palsy		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:32581362
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:2234	focal epilepsy		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:540	strabismus		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:630	genetic disease		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16033914|PMID:16199547|PMID:25741868|PMID:28492532|PMID:28518168|PMID:31031587|PMID:31980526|PMID:32461654
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:6364	migraine		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9001031	Retrognathia		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9007661	Dwarfism		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1306108	Cc2d1a	coiled-coil and C2 domain containing 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1306109	Slc35g2	solute carrier family 35, member G2	gene	DOID:1909	melanoma		ISO	RGD:1314532	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778180
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1602702	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:0070750	mitochondrial myopathy and ataxia		ISO	RGD:1602702	D	RGD:7240710	20190315	OMIM			
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:0070750	mitochondrial myopathy and ataxia		ISO	RGD:1602702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MSTO1-related condition | ClinVar Annotator: match by term: MYOPATHY, MITOCHONDRIAL, AND ATAXIA | ClinVar Annotator: match by term: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	PMID:16199547|PMID:25741868|PMID:28492532|PMID:28544275|PMID:29339779|PMID:30684668|PMID:31463572|PMID:31604776|PMID:31607746|PMID:33222031|PMID:38544359
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:28544275|PMID:31463572|PMID:31607746|PMID:33222031
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy	PMID:25741868
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:10907	microcephaly		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:10930	borderline personality disorder		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Borderline personality disorder	PMID:25741868|PMID:28492532|PMID:29339779|PMID:30684668|PMID:31463572
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1602702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:25741868|PMID:31463572
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:1205	allergic disease		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:1596	depressive disorder		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532|PMID:29339779|PMID:30684668|PMID:31463572
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic neuropathy	
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:423	myopathy		ISO	RGD:1602702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:31463572
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:440	neuromuscular disease		ISO	RGD:1602702	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:630	genetic disease		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28544275|PMID:29339779|PMID:30684668|PMID:31463572|PMID:31607746|PMID:33222031
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1602702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial Myopathies	PMID:25741868|PMID:28492532|PMID:31463572|PMID:31604776|PMID:38544359
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:767	muscular atrophy		ISO	RGD:1602702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868|PMID:31463572
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532|PMID:29339779|PMID:30684668|PMID:31463572
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:9004866	Ataxia		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Truncal ataxia	PMID:25741868|PMID:28492532|PMID:28544275|PMID:29339779|PMID:30684668|PMID:31463572|PMID:31607746|PMID:33222031
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:25741868|PMID:28544275|PMID:31463572|PMID:31607746|PMID:33222031
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1602702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868|PMID:31463572
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:93	language disorder		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868|PMID:28544275|PMID:31463572|PMID:31607746|PMID:33222031
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1602702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1306110	Msto1	misato mitochondrial distribution and morphology regulator 1	gene	DOID:9884	muscular dystrophy		ISO	RGD:1602702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868|PMID:31463572
1306111	Cox7a2l	cytochrome c oxidase subunit 7A2 like	gene	DOID:10534	stomach cancer		ISO	RGD:1314534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306111	Cox7a2l	cytochrome c oxidase subunit 7A2 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306111	Cox7a2l	cytochrome c oxidase subunit 7A2 like	gene	DOID:4362	cervical cancer		ISO	RGD:1314534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306111	Cox7a2l	cytochrome c oxidase subunit 7A2 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306112	Eif3f	eukaryotic translation initiation factor 3, subunit F	gene	DOID:0081228	autosomal recessive intellectual developmental disorder 67		ISO	RGD:1314535	D	RGD:7240710	20190315	OMIM			
1306112	Eif3f	eukaryotic translation initiation factor 3, subunit F	gene	DOID:0081228	autosomal recessive intellectual developmental disorder 67		ISO	RGD:1314535	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EIF3F-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 67	PMID:25741868
1306112	Eif3f	eukaryotic translation initiation factor 3, subunit F	gene	DOID:10534	stomach cancer		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306112	Eif3f	eukaryotic translation initiation factor 3, subunit F	gene	DOID:3275	thymoma		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306112	Eif3f	eukaryotic translation initiation factor 3, subunit F	gene	DOID:4362	cervical cancer		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306112	Eif3f	eukaryotic translation initiation factor 3, subunit F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306112	Eif3f	eukaryotic translation initiation factor 3, subunit F	gene	DOID:6039	uveal melanoma		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306112	Eif3f	eukaryotic translation initiation factor 3, subunit F	gene	DOID:630	genetic disease		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306112	Eif3f	eukaryotic translation initiation factor 3, subunit F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306112	Eif3f	eukaryotic translation initiation factor 3, subunit F	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306112	Eif3f	eukaryotic translation initiation factor 3, subunit F	gene	DOID:9352	type 2 diabetes mellitus		IEP		D	RGD:10755506|PMID:12875716	20160129	RGD			
1306113	Fjx1	four-jointed box kinase 1	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1314537	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935819
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:26424145|PMID:26437029|PMID:28492532
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:26424145|PMID:26437029|PMID:28492532
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:11830	myopia		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:26424145|PMID:26437029|PMID:28492532
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:1826	epilepsy		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26424145|PMID:26437029|PMID:28492532
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:1909	melanoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:3275	thymoma		ISO	RGD:1314539	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314539	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:630	genetic disease		ISO	RGD:1314539	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:769	neuroblastoma		ISO	RGD:1314539	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941191
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:9000006	Supraventricular Tachycardia		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Supraventricular tachycardia	PMID:25741868
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:9004327	Colpocephaly		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:26424145|PMID:26437029|PMID:28492532
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:9004507	Hirsutism		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ataxia	PMID:25741868|PMID:28097321
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:9005075	Spastic Paraplegia and Psychomotor Retardation with or without Seizures		ISO	RGD:1314539	D	RGD:7240710	20190315	OMIM			
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:9005075	Spastic Paraplegia and Psychomotor Retardation with or without Seizures		ISO	RGD:1314539	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: HACE1-related condition | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Spastic paraplegia and psychomotor retardation with or without seizures | ClinVar Annotator: match by term: Spastic paraplegia-severe developmental delay-epilepsy syndrome	PMID:25741868|PMID:26424145|PMID:26437029|PMID:28492532|PMID:30202406|PMID:32581362|PMID:36553453
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:26424145|PMID:26437029|PMID:28492532
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:9008214	Genu Valgum		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:26424145|PMID:26437029|PMID:28492532
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
1306114	Hace1	HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306115	Pcnx1	pecanex 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306115	Pcnx1	pecanex 1	gene	DOID:10283	prostate cancer		ISO	RGD:1352404	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1306115	Pcnx1	pecanex 1	gene	DOID:10283	prostate cancer		ISO	RGD:1352404	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1306115	Pcnx1	pecanex 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306115	Pcnx1	pecanex 1	gene	DOID:1115	sarcoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306115	Pcnx1	pecanex 1	gene	DOID:1324	lung cancer		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306115	Pcnx1	pecanex 1	gene	DOID:1909	melanoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306115	Pcnx1	pecanex 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306115	Pcnx1	pecanex 1	gene	DOID:3275	thymoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306115	Pcnx1	pecanex 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306115	Pcnx1	pecanex 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306115	Pcnx1	pecanex 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306115	Pcnx1	pecanex 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352404	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306115	Pcnx1	pecanex 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306115	Pcnx1	pecanex 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306115	Pcnx1	pecanex 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306115	Pcnx1	pecanex 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306115	Pcnx1	pecanex 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306115	Pcnx1	pecanex 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306115	Pcnx1	pecanex 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306115	Pcnx1	pecanex 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1314542	D	RGD:8554872	20191210	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:1059	intellectual disability		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:10907	microcephaly		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:1115	sarcoma		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:1909	melanoma		ISO	RGD:1314542	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:1909	melanoma		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306116	Fhip2a	FHF complex subunit HOOK interacting protein 2A	gene	DOID:9256	colorectal cancer		ISO	RGD:1314542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306117	Stxbp6	syntaxin binding protein 6	gene	DOID:12849	autistic disorder		ISO	RGD:1314544	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20071347
1306117	Stxbp6	syntaxin binding protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306118	Enox1	ecto-NOX disulfide-thiol exchanger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306118	Enox1	ecto-NOX disulfide-thiol exchanger 1	gene	DOID:10283	prostate cancer		ISO	RGD:1605985	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1306118	Enox1	ecto-NOX disulfide-thiol exchanger 1	gene	DOID:10283	prostate cancer		ISO	RGD:1605985	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1306118	Enox1	ecto-NOX disulfide-thiol exchanger 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605985	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306118	Enox1	ecto-NOX disulfide-thiol exchanger 1	gene	DOID:1115	sarcoma		ISO	RGD:1605985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306118	Enox1	ecto-NOX disulfide-thiol exchanger 1	gene	DOID:1324	lung cancer		ISO	RGD:1605985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306118	Enox1	ecto-NOX disulfide-thiol exchanger 1	gene	DOID:1909	melanoma		ISO	RGD:1605985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306118	Enox1	ecto-NOX disulfide-thiol exchanger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306118	Enox1	ecto-NOX disulfide-thiol exchanger 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306118	Enox1	ecto-NOX disulfide-thiol exchanger 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306119	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:1909	melanoma		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306119	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306119	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:3275	thymoma		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306119	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:4362	cervical cancer		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306119	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314547	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306119	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306119	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1314547	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306119	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306119	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306119	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306119	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1306119	Mideas	mitotic deacetylase associated SANT domain protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306120	Tll1	tolloid-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306120	Tll1	tolloid-like 1	gene	DOID:0110111	atrial heart septal defect 6		ISO	RGD:1314549	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306120	Tll1	tolloid-like 1	gene	DOID:0110111	atrial heart septal defect 6		ISO	RGD:1314549	D	RGD:155882583|PMID:18830233	20230131	RGD		DNA:deletion|insertion|mutations:exons:multiple (human	
1306120	Tll1	tolloid-like 1	gene	DOID:0110111	atrial heart septal defect 6		ISO	RGD:1314549	D	RGD:155883161|PMID:27418595	20230202	RGD		DNA:mutation:cds:p.I263V (human)	
1306120	Tll1	tolloid-like 1	gene	DOID:0110111	atrial heart septal defect 6		ISO	RGD:1314549	D	RGD:7240710	20130425	OMIM			
1306120	Tll1	tolloid-like 1	gene	DOID:0110111	atrial heart septal defect 6		ISO	RGD:1314549	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATRIAL SEPTAL DEFECT 6 | ClinVar Annotator: match by term: Atrial septal defect 6 | ClinVar Annotator: match by term: TLL1-related condition	PMID:10331975|PMID:25741868|PMID:28492532|PMID:31570783
1306120	Tll1	tolloid-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306120	Tll1	tolloid-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1314549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306120	Tll1	tolloid-like 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1314549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1306120	Tll1	tolloid-like 1	gene	DOID:1681	heart septal defect		ISO	RGD:1550401	D	RGD:155882595|PMID:10331975	20230131	RGD			
1306120	Tll1	tolloid-like 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1314549	D	RGD:155882571|PMID:22883091	20230130	RGD		DNA:insertion:exon:exon 10 (human)	
1306120	Tll1	tolloid-like 1	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:1314549	D	RGD:155883159|PMID:21911782	20230202	RGD		associated with type 2 diabetes:DNA:SNP:CDS:rs1503298 (human)	
1306120	Tll1	tolloid-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306120	Tll1	tolloid-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314549	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306120	Tll1	tolloid-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306120	Tll1	tolloid-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306121	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306121	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:3275	thymoma		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306121	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306121	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306121	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306121	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306121	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306121	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306121	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306121	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306121	Vps72	vacuolar protein sorting 72 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:1324	lung cancer		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:3275	thymoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:4362	cervical cancer		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306125	Anapc5	anaphase-promoting complex subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306126	Antkmt	adenine nucleotide translocase lysine methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1343313	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306126	Antkmt	adenine nucleotide translocase lysine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306126	Antkmt	adenine nucleotide translocase lysine methyltransferase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1343313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306126	Antkmt	adenine nucleotide translocase lysine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:0061050	autosomal dominant intellectual developmental disorder 60 with seizures		ISO	RGD:1314561	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder 60 with seizures	PMID:25741868
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1314561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314561	D	RGD:11554173	20221004	CTD		CTD Direct Evidence: marker/mechanism	PMID:34755307
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:1115	sarcoma		ISO	RGD:1314561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:1324	lung cancer		ISO	RGD:1314561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:1909	melanoma		ISO	RGD:1314561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1314561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1314561	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1314561	D	RGD:11554173	20221004	CTD		CTD Direct Evidence: marker/mechanism	PMID:34755307
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1314561	D	RGD:11554173	20221004	CTD		CTD Direct Evidence: marker/mechanism	PMID:34755307
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1314561	D	RGD:11554173	20221004	CTD		CTD Direct Evidence: marker/mechanism	PMID:34755307
1306127	Pip5k1a	phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:0061194	nephrotic syndrome type 24		ISO	RGD:1314563	D	RGD:7240710	20210414	OMIM			
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:0061194	nephrotic syndrome type 24		ISO	RGD:1314563	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: DAAM2-related condition | ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 24 | ClinVar Annotator: match by term: Nephrotic syndrome, type 24	PMID:25741868|PMID:28492532|PMID:33232676
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:11476	osteoporosis		ISO	RGD:1314563	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30598549
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:1324	lung cancer		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:1909	melanoma		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:3275	thymoma		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:630	genetic disease		ISO	RGD:1314563	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306128	Daam2	dishevelled associated activator of morphogenesis 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306129	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306129	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306129	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:0060058	lymphoma		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306129	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306129	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306129	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306129	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:1909	melanoma		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306129	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306129	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306129	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306129	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306129	Thrap3	thyroid hormone receptor associated protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306130	Ovol2	ovo-like zinc finger 2	gene	DOID:0110855	posterior polymorphous corneal dystrophy 1		ISO	RGD:1314567	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26749309
1306130	Ovol2	ovo-like zinc finger 2	gene	DOID:0110855	posterior polymorphous corneal dystrophy 1		ISO	RGD:1314567	D	RGD:7240710	20190315	OMIM			
1306130	Ovol2	ovo-like zinc finger 2	gene	DOID:0110855	posterior polymorphous corneal dystrophy 1		ISO	RGD:1314567	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 | ClinVar Annotator: match by term: OVOL2-related condition | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1	PMID:25741868|PMID:28492532
1306130	Ovol2	ovo-like zinc finger 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306130	Ovol2	ovo-like zinc finger 2	gene	DOID:5374	pilomatrixoma		ISO	RGD:1314567	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26873447
1306130	Ovol2	ovo-like zinc finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306130	Ovol2	ovo-like zinc finger 2	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1314567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868
1306131	Sfxn2	sideroflexin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306131	Sfxn2	sideroflexin 2	gene	DOID:1324	lung cancer		ISO	RGD:1314569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306131	Sfxn2	sideroflexin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306131	Sfxn2	sideroflexin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306131	Sfxn2	sideroflexin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306131	Sfxn2	sideroflexin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:1612	breast cancer		ISO	RGD:1314573	D	RGD:11063875|PMID:26191300	20240930	RGD		DNA:SNPs: :rs569550,rs592373(human)	
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1314573	D	RGD:407571686|PMID:21127985	20240930	RGD		DNA:SNP:intron:rs3817198T>C(human)	
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:182	calcinosis		ISO	RGD:1314573	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:3275	thymoma		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:4079	heart valve disease		ISO	RGD:1314573	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:1314573	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297633
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1314573	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17529967|PMID:20453838
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306133	Lsp1	lymphocyte-specific protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1314575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrioventricular canal defect	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0060490	Schimke immuno-osseous dysplasia		ISO	RGD:1314575	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16237566
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0060490	Schimke immuno-osseous dysplasia		ISO	RGD:1314575	D	RGD:1599053|PMID:11799392	20070115	RGD		DNA:mutations:multiple (human)	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0060490	Schimke immuno-osseous dysplasia		ISO	RGD:1314575	D	RGD:7240710	20130221	OMIM			
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0060490	Schimke immuno-osseous dysplasia		ISO	RGD:1314575	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: SCHIMKE IMMUNOOSSEOUS DYSPLASIA | ClinVar Annotator: match by term: SMARCAL1-related disorder | ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia | ClinVar Annotator: match by term: Schimke immunoosseous dysplasia	PMID:11799392|PMID:12471207|PMID:15523612|PMID:15880370|PMID:15884045|PMID:16199547|PMID:16237566|PMID:16840568|PMID:17089404|PMID:17195070|PMID:17576681|PMID:18356746|PMID:18785907|PMID:18805831|PMID:18974355|PMID:19127206|PMID:19793864|PMID:20013129|PMID:20179009|PMID:20301550|PMID:20981092|PMID:21914180|PMID:22998683|PMID:23359635|PMID:23671665|PMID:24197801|PMID:24589093|PMID:25349199|PMID:25640679|PMID:25741868|PMID:25748404|PMID:26089390|PMID:26195148|PMID:26499378|PMID:26633542|PMID:27577878|PMID:27884173|PMID:27993330|PMID:28117080|PMID:28204945|PMID:28492532|PMID:28780565|PMID:28796785|PMID:28844315|PMID:29127259|PMID:29282041|PMID:29802247|PMID:30026777|PMID:30295827|PMID:30586318|PMID:30635151|PMID:30687093|PMID:30784191|PMID:31039288|PMID:31130284|PMID:31275356|PMID:31423066|PMID:32089044|PMID:32363171|PMID:32393263|PMID:32499645|PMID:32604935|PMID:33203071|PMID:33532864|PMID:33900868|PMID:34031513|PMID:34103668|PMID:34120753|PMID:36176665|PMID:36658659|PMID:36685964|PMID:36689342|PMID:37662493|PMID:37850020|PMID:37890990|PMID:38993907|PMID:39052144|PMID:40004207|PMID:4046357|PMID:40463577|PMID:40996338|PMID:9536098
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0060490	Schimke immuno-osseous dysplasia		ISS	RGD:1314576	D	RGD:13592920	20230718	MouseDO		OMIM:242900	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:20981092|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:25748404|PMID:26499378|PMID:27884173|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:10907	microcephaly		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:1115	sarcoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:11830	myopia		ISO	RGD:1314575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25428399|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:20981092|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:25748404|PMID:26499378|PMID:27884173|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:1324	lung cancer		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:1909	melanoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:2355	anemia		ISO	RGD:1314575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:3275	thymoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:3347	osteosarcoma		ISO	RGD:1314575	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Osteosarcoma	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314575	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:557	kidney disease		ISO	RGD:1314575	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:11799392|PMID:15523612|PMID:16199547|PMID:20301550|PMID:25741868|PMID:28492532|PMID:32499645
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:630	genetic disease		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28117080|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:6364	migraine		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:767	muscular atrophy		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1314575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1314575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1314575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1314575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306134	Smarcal1	SNF2 related chromatin remodeling annealing helicase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1306135	Ifna1	interferon, alpha 1	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1354356	D	RGD:11554173	20211214	CTD		CTD Direct Evidence: therapeutic	PMID:20370541
1306135	Ifna1	interferon, alpha 1	gene	DOID:11168	anogenital venereal wart	treatment	ISO	RGD:1350617	D	RGD:36174028|PMID:25774455	20200728	RGD			
1306135	Ifna1	interferon, alpha 1	gene	DOID:12287	Crimean-Congo hemorrhagic fever	susceptibility	ISO	RGD:1354356	D	RGD:9068941	20211217	RGD		DNA:SNP:promoter: -1823G>A (rs1332190)(human)	PMID:26694082|REF_RGD_ID:36174029
1306135	Ifna1	interferon, alpha 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1354356	D	RGD:11554173	20211214	CTD		CTD Direct Evidence: therapeutic	PMID:17198089|PMID:17961653
1306135	Ifna1	interferon, alpha 1	gene	DOID:1909	melanoma		ISO	RGD:1354356	D	RGD:11554173	20211214	CTD		CTD Direct Evidence: therapeutic	PMID:15176220|PMID:15577320|PMID:15577323|PMID:16034308|PMID:16260693|PMID:16260697|PMID:16432458
1306135	Ifna1	interferon, alpha 1	gene	DOID:2043	hepatitis B		ISO	RGD:1354356	D	RGD:11554173	20211214	CTD		CTD Direct Evidence: therapeutic	PMID:15504288
1306135	Ifna1	interferon, alpha 1	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1354356	D	RGD:11554173	20211214	CTD		CTD Direct Evidence: therapeutic	PMID:15200845
1306135	Ifna1	interferon, alpha 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1354356	D	RGD:11554173	20211214	CTD		CTD Direct Evidence: therapeutic	PMID:17198089
1306135	Ifna1	interferon, alpha 1	gene	DOID:5052	melioidosis		ISO	RGD:1354356	D	RGD:9068941	20211217	RGD		mRNA:increased expression:PBMC	PMID:28435890|REF_RGD_ID:36174031
1306135	Ifna1	interferon, alpha 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1354356	D	RGD:11554173	20211214	CTD		CTD Direct Evidence: therapeutic	PMID:18665156
1306135	Ifna1	interferon, alpha 1	gene	DOID:5574	vipoma		ISO	RGD:1354356	D	RGD:11554173	20211214	CTD		CTD Direct Evidence: therapeutic	PMID:17961653
1306135	Ifna1	interferon, alpha 1	gene	DOID:635	acquired immunodeficiency syndrome		ISO	RGD:1354356	D	RGD:11554173	20211214	CTD		CTD Direct Evidence: marker/mechanism	PMID:9612607
1306135	Ifna1	interferon, alpha 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354356	D	RGD:11554173	20211214	CTD		CTD Direct Evidence: therapeutic	PMID:17088986|PMID:17971768|PMID:18665156
1306135	Ifna1	interferon, alpha 1	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1354356	D	RGD:9068941	20211217	RGD		associated with hepatitis B; DNA:SNP:: ( rs1831583) (human)	PMID:29080269|REF_RGD_ID:21406429
1306135	Ifna1	interferon, alpha 1	gene	DOID:8398	osteoarthritis	treatment	IEP		D	RGD:36174218|PMID:30456844	20200729	RGD			
1306135	Ifna1	interferon, alpha 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1354356	D	RGD:11554173	20211214	CTD		CTD Direct Evidence: therapeutic	PMID:12898905|PMID:14512876|PMID:16027843
1306135	Ifna1	interferon, alpha 1	gene	DOID:9006698	Vaginal Neoplasms		ISO	RGD:1354356	D	RGD:11554173	20211214	CTD		CTD Direct Evidence: therapeutic	PMID:15577323
1306135	Ifna1	interferon, alpha 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1354356	D	RGD:11554173	20211214	CTD		CTD Direct Evidence: therapeutic	PMID:14633663
1306135	Ifna1	interferon, alpha 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1354356	D	RGD:11554173	20211214	CTD		CTD Direct Evidence: therapeutic	PMID:15289873
1306138	Samd14	sterile alpha motif domain containing 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306138	Samd14	sterile alpha motif domain containing 14	gene	DOID:10534	stomach cancer		ISO	RGD:1602057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306138	Samd14	sterile alpha motif domain containing 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306138	Samd14	sterile alpha motif domain containing 14	gene	DOID:1115	sarcoma		ISO	RGD:1602057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306138	Samd14	sterile alpha motif domain containing 14	gene	DOID:1324	lung cancer		ISO	RGD:1602057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306138	Samd14	sterile alpha motif domain containing 14	gene	DOID:3275	thymoma		ISO	RGD:1602057	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306138	Samd14	sterile alpha motif domain containing 14	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1602057	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1306138	Samd14	sterile alpha motif domain containing 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306138	Samd14	sterile alpha motif domain containing 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306140	Tdrd1	tudor domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306140	Tdrd1	tudor domain containing 1	gene	DOID:12336	male infertility		ISO	RGD:1314584	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
1306140	Tdrd1	tudor domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306140	Tdrd1	tudor domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314584	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306141	Evpl	envoplakin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306141	Evpl	envoplakin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306141	Evpl	envoplakin	gene	DOID:1324	lung cancer		ISO	RGD:1314586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306141	Evpl	envoplakin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306141	Evpl	envoplakin	gene	DOID:3275	thymoma		ISO	RGD:1314586	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306141	Evpl	envoplakin	gene	DOID:4362	cervical cancer		ISO	RGD:1314586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306141	Evpl	envoplakin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306141	Evpl	envoplakin	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306141	Evpl	envoplakin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306141	Evpl	envoplakin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306142	Dennd2a	DENN domain containing 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306142	Dennd2a	DENN domain containing 2A	gene	DOID:0060058	lymphoma		ISO	RGD:1314588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306142	Dennd2a	DENN domain containing 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1314588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306142	Dennd2a	DENN domain containing 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306142	Dennd2a	DENN domain containing 2A	gene	DOID:1115	sarcoma		ISO	RGD:1314588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306142	Dennd2a	DENN domain containing 2A	gene	DOID:1324	lung cancer		ISO	RGD:1314588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306142	Dennd2a	DENN domain containing 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306142	Dennd2a	DENN domain containing 2A	gene	DOID:3275	thymoma		ISO	RGD:1314588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306142	Dennd2a	DENN domain containing 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1314588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306142	Dennd2a	DENN domain containing 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1314588	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306142	Dennd2a	DENN domain containing 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306142	Dennd2a	DENN domain containing 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0050562	West syndrome		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1606524	D	RGD:11098120|PMID:26371875	20161004	RGD		DNA:mutations:cds:c.457G>A(p.E53K),c.641G>A(p.R214H),c.1316delT(p.V439Vfs32)(human)	
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:24033266|PMID:25741868|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:1606524	D	RGD:11537471|PMID:23526554	20161005	RGD		DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)	
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:1606524	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy	PMID:27541164|PMID:28492532|PMID:28663785|PMID:31112829|PMID:33063868|PMID:3402014|PMID:34020146
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0080449	developmental and epileptic encephalopathy 16		ISO	RGD:1606524	D	RGD:7240710	20140911	OMIM			
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0080449	developmental and epileptic encephalopathy 16		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 16 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16	PMID:18414213|PMID:20727515|PMID:23526554|PMID:24033266|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27281533|PMID:27502353|PMID:27652284|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29176366|PMID:30335140|PMID:30579089|PMID:30680869|PMID:31112829|PMID:31780880|PMID:31922275|PMID:32004315|PMID:32581362|PMID:33229591|PMID:33619735|PMID:35350397|PMID:37996878
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0080449	developmental and epileptic encephalopathy 16		ISS	RGD:1314590	D	RGD:13592920	20230718	MouseDO		OMIM:615338	
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1606524	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms	PMID:10574461|PMID:10741954|PMID:16199547|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:22277662|PMID:23184456|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24848745|PMID:25169651|PMID:25401298|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:27784474|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:29655203|PMID:29671961|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30311386|PMID:30335140|PMID:30776697|PMID:31112829|PMID:31257402|PMID:31780880|PMID:32369273|PMID:32581362|PMID:9536098
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: OHTAHARA SYNDROME, X-LINKED | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms	PMID:16199547|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:20797691|PMID:23184456|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:25169651|PMID:25326637|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27281533|PMID:27502353|PMID:27652284|PMID:27669036|PMID:28072960|PMID:28252636|PMID:28292732|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29176366|PMID:29358611|PMID:29655203|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30335140|PMID:30579089|PMID:30680869|PMID:30866059|PMID:31112829|PMID:31257402|PMID:31780880|PMID:31922275|PMID:32369273|PMID:32581362|PMID:32860223|PMID:33229591|PMID:33281559|PMID:33333793|PMID:33726816|PMID:33986365|PMID:34852372|PMID:35350397|PMID:36413997|PMID:37996878|PMID:9536098
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome	PMID:16199547|PMID:16855591|PMID:17576681|PMID:20727515|PMID:20797691|PMID:23184456|PMID:23526554|PMID:24033266|PMID:24291220|PMID:24729539|PMID:24729547|PMID:25169651|PMID:25326637|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27281533|PMID:27502353|PMID:27652284|PMID:27669036|PMID:28072960|PMID:28252636|PMID:28292732|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29176366|PMID:29655203|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30335140|PMID:30579089|PMID:30680869|PMID:30866059|PMID:31112829|PMID:31257402|PMID:31618474|PMID:31780880|PMID:31922275|PMID:32004315|PMID:32369273|PMID:32581362|PMID:32860223|PMID:33229591|PMID:33281559|PMID:33333793|PMID:33619735|PMID:33726816|PMID:33986365|PMID:34852372|PMID:35350397|PMID:36413997|PMID:37996878|PMID:9536098
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome	PMID:16199547|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:20797691|PMID:23184456|PMID:23526554|PMID:24033266|PMID:24291220|PMID:24729539|PMID:24729547|PMID:25169651|PMID:25326637|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27281533|PMID:27502353|PMID:27652284|PMID:27669036|PMID:28072960|PMID:28252636|PMID:28292732|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29176366|PMID:29655203|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30311386|PMID:30335140|PMID:30579089|PMID:30680869|PMID:30866059|PMID:31112829|PMID:31257402|PMID:31618474|PMID:31780880|PMID:31922275|PMID:32004315|PMID:32369273|PMID:32581362|PMID:32860223|PMID:33229591|PMID:33281559|PMID:33333793|PMID:33619735|PMID:33726816|PMID:33986365|PMID:34852372|PMID:35350397|PMID:36413997|PMID:37996878|PMID:9536098
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0090045	glucose transporter type 1 deficiency syndrome 2		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exertion-induced paroxysmal dyskinesia	PMID:25741868
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0110532	autosomal recessive nonsyndromic deafness 86		ISO	RGD:1606524	D	RGD:7240710	20140911	OMIM			
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0110532	autosomal recessive nonsyndromic deafness 86		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DFNB86 | ClinVar Annotator: match by term: Deafness , autosomal recessive 86 | ClinVar Annotator: match by term: Deafness, autosomal recessive 86	PMID:18414213|PMID:20727515|PMID:23526554|PMID:24033266|PMID:24291220|PMID:24387994|PMID:25741868|PMID:26467025|PMID:27281533|PMID:28492532|PMID:31922275|PMID:32581362|PMID:33095980
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0110535	autosomal recessive nonsyndromic deafness 9		ISO	RGD:1606524	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder	
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0110586	autosomal dominant nonsyndromic deafness 65		ISO	RGD:1606524	D	RGD:7240710	20171004	OMIM			
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0110586	autosomal dominant nonsyndromic deafness 65		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 65	PMID:23526554|PMID:24291220|PMID:25741868|PMID:27281533|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:16855591|PMID:23526554|PMID:24291220|PMID:27281533|PMID:28252636|PMID:28492532|PMID:31922275
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0111627	DOORS syndrome		ISO	RGD:1606524	D	RGD:7240710	20141015	OMIM			
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0111627	DOORS syndrome		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DOOR SYNDROME | ClinVar Annotator: match by term: DOORS | ClinVar Annotator: match by term: DOORS syndrome	PMID:1029242|PMID:16199547|PMID:18414213|PMID:20727515|PMID:23526554|PMID:24033266|PMID:24291220|PMID:24729539|PMID:24729547|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27652284|PMID:27669036|PMID:28492532|PMID:28663785|PMID:29100083|PMID:30311386|PMID:30335140|PMID:30579089|PMID:31112829|PMID:31257402|PMID:31780880|PMID:31922275|PMID:32004315|PMID:32581362|PMID:33229591|PMID:33619735|PMID:33986365|PMID:35350397|PMID:37996878
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0111645	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		ISO	RGD:1606524	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0111645	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		ISO	RGD:1606524	D	RGD:7240710	20190821	OMIM			
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:0111645	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP | ClinVar Annotator: match by term: RE-PED-WC | ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	PMID:18414213|PMID:20727515|PMID:23526554|PMID:24033266|PMID:24291220|PMID:25741868|PMID:26467025|PMID:27281533|PMID:28492532|PMID:30108545|PMID:30311386|PMID:31112829|PMID:31257402|PMID:31618474|PMID:31922275|PMID:32581362|PMID:33229591|PMID:33333793
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:23526554|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:27281533|PMID:27652284|PMID:27669036|PMID:28492532|PMID:28663785|PMID:30335140|PMID:30579089|PMID:31112829|PMID:31257402|PMID:31780880|PMID:32004315|PMID:33619735|PMID:35350397|PMID:37996878
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:1059	intellectual disability		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23526554|PMID:23806086|PMID:24088043|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:27281533|PMID:27652284|PMID:27669036|PMID:28492532|PMID:28663785|PMID:30311386|PMID:30335140|PMID:30579089|PMID:31257402|PMID:31780880|PMID:35350397|PMID:37996878
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:1059	intellectual disability		ISO	RGD:1606524	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:23526554|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:27281533|PMID:27652284|PMID:27669036|PMID:28492532|PMID:28663785|PMID:30311386|PMID:30335140|PMID:30579089|PMID:31112829|PMID:31257402|PMID:31780880|PMID:32004315|PMID:33619735|PMID:35350397|PMID:37996878
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:1059	intellectual disability		ISO	RGD:1606524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:23526554|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:27281533|PMID:27652284|PMID:28492532|PMID:28663785|PMID:30311386|PMID:30335140|PMID:30579089|PMID:31112829|PMID:31780880|PMID:32004315|PMID:33619735|PMID:35350397|PMID:37996878
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:1115	sarcoma		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:12849	autistic disorder		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:24033266|PMID:25741868|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:1324	lung cancer		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:16199547|PMID:23526554|PMID:24291220|PMID:25741868|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:1826	epilepsy		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:26467025|PMID:27281533|PMID:27652284|PMID:27669036|PMID:28292732|PMID:28492532|PMID:28663785|PMID:29358611|PMID:30108545|PMID:30335140|PMID:30579089|PMID:30776697|PMID:31112829|PMID:31257402|PMID:31618474|PMID:31780880|PMID:31922275|PMID:32581362|PMID:33063868|PMID:35350397|PMID:37996878
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:1826	epilepsy		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:23526554|PMID:24033266|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:27281533|PMID:27652284|PMID:27669036|PMID:28072960|PMID:28292732|PMID:28492532|PMID:28663785|PMID:30108545|PMID:30335140|PMID:30579089|PMID:30776697|PMID:31112829|PMID:31257402|PMID:31618474|PMID:31780880|PMID:31922275|PMID:32004315|PMID:32581362|PMID:33063868|PMID:33333793|PMID:33619735|PMID:35350397|PMID:37996878
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:2030	anxiety disorder		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24033266|PMID:25741868|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:2355	anemia		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:24033266|PMID:25741868|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1606524	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile	PMID:22277662|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:29358611|PMID:30311386
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1606524	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile	PMID:18414213|PMID:22277662|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28726039|PMID:29358611|PMID:30311386|PMID:31216405|PMID:32004315|PMID:33619735
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1606524	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile	PMID:18414213|PMID:22277662|PMID:23526554|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28726039|PMID:28951997|PMID:29358611|PMID:30180405|PMID:30311386|PMID:30776697|PMID:31112829|PMID:31216405|PMID:32004315|PMID:33619735
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1606524	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile	PMID:18414213|PMID:23526554|PMID:24033266|PMID:24291220|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27281533|PMID:28292732|PMID:28428906|PMID:28492532|PMID:28726039|PMID:29358611|PMID:30180405|PMID:30311386|PMID:30776697|PMID:31112829|PMID:31216405|PMID:32004315|PMID:33619735
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:18414213|PMID:23526554|PMID:24033266|PMID:24291220|PMID:25741868|PMID:26467025|PMID:27281533|PMID:28492532|PMID:29358611|PMID:31922275|PMID:32581362
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Early Myoclonic Encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile	PMID:18414213|PMID:20727515|PMID:23526554|PMID:24033266|PMID:24291220|PMID:25741868|PMID:26467025|PMID:27281533|PMID:28492532|PMID:30311386|PMID:31922275|PMID:32581362
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:4362	cervical cancer		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:480	movement disease		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder | ClinVar Annotator: match by term: Movement disorders	PMID:25741868|PMID:28492532|PMID:31922275|PMID:32581362
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:543	dystonia		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16855591|PMID:23526554|PMID:24291220|PMID:27281533|PMID:28252636|PMID:28492532|PMID:31922275
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:630	genetic disease		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16855591|PMID:17576681|PMID:18414213|PMID:23526554|PMID:24033266|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:26467025|PMID:27281533|PMID:27502353|PMID:27652284|PMID:28252636|PMID:28492532|PMID:28663785|PMID:29100083|PMID:30139988|PMID:30311386|PMID:30335140|PMID:30579089|PMID:31112829|PMID:31780880|PMID:31922275|PMID:32004315|PMID:33619735|PMID:35350397|PMID:36413997|PMID:37996878|PMID:9536098
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:6364	migraine		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:24033266|PMID:25741868|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1606524	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25401298
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PME	PMID:25401298|PMID:25741868|PMID:27281533|PMID:28492532|PMID:30335140
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:8927	learning disability		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:28492532|PMID:31922275|PMID:32581362
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9000307	Presbycusis		ISO	RGD:1606524	D	RGD:11537394|PMID:24729539	20161004	RGD		DNA:mutation:cds:c.533C>T (p.S178L)(human)	
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9000343	Vision Disorders		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:23526554|PMID:27281533|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9000495	Tremor		ISO	RGD:1606524	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:24033266|PMID:25741868|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9001425	Triphalangeal Thumb		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Triphalangeal thumb	PMID:23526554|PMID:24291220|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:27281533|PMID:27652284|PMID:27669036|PMID:28492532|PMID:28663785|PMID:30335140|PMID:30579089|PMID:31112829|PMID:31257402|PMID:31780880|PMID:32004315|PMID:33619735|PMID:35350397|PMID:37996878
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9001722	Dysarthria		ISO	RGD:1606524	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:24033266|PMID:25741868|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:24033266|PMID:24291220|PMID:25741868|PMID:28492532|PMID:30311386
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:23526554|PMID:27281533|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:24291220|PMID:25741868|PMID:27669036|PMID:28492532|PMID:29176366|PMID:31112829|PMID:31257402|PMID:33333793
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9007063	Myoclonic Epilepsy, Familial Infantile		ISO	RGD:1606524	D	RGD:11537392|PMID:25769375	20161004	RGD		DNA:mutation:cds:c.457G>A (p.E153K)(human)	
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9007063	Myoclonic Epilepsy, Familial Infantile		ISO	RGD:1606524	D	RGD:11537393|PMID:20797691	20161004	RGD		DNA:mutation:cds:c.751T>C(p.F251L)(human)	
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9007063	Myoclonic Epilepsy, Familial Infantile		ISO	RGD:1606524	D	RGD:7240710	20130731	OMIM			
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9007063	Myoclonic Epilepsy, Familial Infantile		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy | ClinVar Annotator: match by term: MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL | ClinVar Annotator: match by term: Myoclonic epilepsy, infantile, familial	PMID:18414213|PMID:20727515|PMID:23526554|PMID:24033266|PMID:24291220|PMID:25741868|PMID:26207815|PMID:26371875|PMID:26467025|PMID:27281533|PMID:27784474|PMID:28492532|PMID:30180405|PMID:30311386|PMID:30335140|PMID:31112829|PMID:31922275|PMID:32581362|PMID:33229591
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:23526554|PMID:27281533|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1606524	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	PMID:24291220|PMID:25169651|PMID:25719194|PMID:25741868|PMID:27281533|PMID:28492532|PMID:30335140|PMID:30579089|PMID:31112829|PMID:31780880|PMID:32004315|PMID:37996878
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9007722	Myoclonus		ISO	RGD:1606524	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Myoclonic jerks	PMID:24033266|PMID:25741868|PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23526554|PMID:25741868|PMID:27281533|PMID:28492532|PMID:31922275|PMID:32581362
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9008675	Dyskinesias		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:16855591|PMID:23526554|PMID:24291220|PMID:27281533|PMID:28252636|PMID:28492532|PMID:31922275
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9008681	Deafness		ISO	RGD:1606524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Deafness	
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1306143	Tbc1d24	TBC1 domain family, member 24	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1606524	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:24033266|PMID:25741868|PMID:28492532
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314591	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:0060058	lymphoma		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1314591	D	RGD:7240710	20150624	OMIM			
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1314591	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EIF4G1-related condition | ClinVar Annotator: match by term: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Parkinson disease 18, autosomal dominant, susceptibility to | ClinVar Annotator: match by term: Parkinson disease, late-onset	PMID:22658323|PMID:23408866|PMID:25741868|PMID:28492532|PMID:32707456
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:0080600	COVID-19		ISO	RGD:1314591	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:1115	sarcoma		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:12849	autistic disorder		ISO	RGD:1314591	D	RGD:11554173	20200310	CTD		CTD Direct Evidence: marker/mechanism	PMID:20957522
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:1324	lung cancer		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:1909	melanoma		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:3070	high grade glioma		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:3275	thymoma		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314591	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:543	dystonia		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paroxysmal dystonia	PMID:25741868
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:9007102	Myocardial Ischemia		IEP		D	RGD:10401145|PMID:16439989	20150929	RGD			
1306144	Eif4g1	eukaryotic translation initiation factor 4 gamma 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306145	Lrch4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:0111704	chromosome 2q37 deletion syndrome		ISO	RGD:1314594	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19365831
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:12849	autistic disorder		ISO	RGD:1314594	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19365831
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:1909	melanoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:3070	high grade glioma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314594	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:6039	uveal melanoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306146	Pask	PAS domain containing serine/threonine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306147	Rpusd2	RNA pseudouridine synthase domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306147	Rpusd2	RNA pseudouridine synthase domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306147	Rpusd2	RNA pseudouridine synthase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306147	Rpusd2	RNA pseudouridine synthase domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:10534	stomach cancer		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:1324	lung cancer		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:1909	melanoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:3070	high grade glioma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:4362	cervical cancer		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306148	Ecpas	Ecm29 proteasome adaptor and scaffold	gene	DOID:9256	colorectal cancer		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306149	Nkx2-6	NK2 homeobox 6	gene	DOID:0050650	familial atrial fibrillation	susceptibility	ISO	RGD:1603362	D	RGD:155882443|PMID:25319568	20230117	RGD		DNA:missense mutation:CDS:p.Q175H (human)	
1306149	Nkx2-6	NK2 homeobox 6	gene	DOID:1657	ventricular septal defect	susceptibility	ISO	RGD:1603362	D	RGD:155882444|PMID:25380965	20230117	RGD		DNA:missense mutation:CDS:p.K152Q (human)	
1306149	Nkx2-6	NK2 homeobox 6	gene	DOID:630	genetic disease		ISO	RGD:1603362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306149	Nkx2-6	NK2 homeobox 6	gene	DOID:9003752	Persistent Truncus Arteriosus		ISO	RGD:1603362	D	RGD:155882448|PMID:15649947	20230118	RGD		DNA:missense mutation:CDS:p.F151L (human)	
1306149	Nkx2-6	NK2 homeobox 6	gene	DOID:9003752	Persistent Truncus Arteriosus		ISO	RGD:1603362	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PERSISTENT TRUNCUS ARTERIOSUS	PMID:25741868
1306149	Nkx2-6	NK2 homeobox 6	gene	DOID:9007617	Conotruncal Cardiac Defects		ISO	RGD:1603362	D	RGD:7240710	20180530	OMIM			
1306149	Nkx2-6	NK2 homeobox 6	gene	DOID:9007617	Conotruncal Cardiac Defects		ISO	RGD:1603362	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONOTRUNCAL HEART MALFORMATIONS | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: NKX2-6-related disorder	PMID:25741868|PMID:27808268|PMID:28492532
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314601	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:1115	sarcoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:12849	autistic disorder		ISO	RGD:1314601	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12851639
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:1324	lung cancer		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:1909	melanoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:4362	cervical cancer		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:5041	esophageal cancer		ISO	RGD:1314601	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306150	Atp10a	ATPase phospholipid transporting 10A (putative)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306151	Fam234b	family with sequence similarity 234, member B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306151	Fam234b	family with sequence similarity 234, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306151	Fam234b	family with sequence similarity 234, member B	gene	DOID:10534	stomach cancer		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306151	Fam234b	family with sequence similarity 234, member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306151	Fam234b	family with sequence similarity 234, member B	gene	DOID:1324	lung cancer		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306151	Fam234b	family with sequence similarity 234, member B	gene	DOID:4362	cervical cancer		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306151	Fam234b	family with sequence similarity 234, member B	gene	DOID:5041	esophageal cancer		ISO	RGD:1605976	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306151	Fam234b	family with sequence similarity 234, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306151	Fam234b	family with sequence similarity 234, member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306152	Ninl	ninein-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306152	Ninl	ninein-like	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1604826	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1306152	Ninl	ninein-like	gene	DOID:10534	stomach cancer		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306152	Ninl	ninein-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306152	Ninl	ninein-like	gene	DOID:1115	sarcoma		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306152	Ninl	ninein-like	gene	DOID:12849	autistic disorder		ISO	RGD:1604826	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
1306152	Ninl	ninein-like	gene	DOID:1324	lung cancer		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306152	Ninl	ninein-like	gene	DOID:1909	melanoma		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306152	Ninl	ninein-like	gene	DOID:3275	thymoma		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306152	Ninl	ninein-like	gene	DOID:4362	cervical cancer		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: Cervix cancer	
1306152	Ninl	ninein-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306152	Ninl	ninein-like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306152	Ninl	ninein-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1604826	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306152	Ninl	ninein-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306152	Ninl	ninein-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306152	Ninl	ninein-like	gene	DOID:9003566	Mesothelioma		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306152	Ninl	ninein-like	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604826	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306152	Ninl	ninein-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306152	Ninl	ninein-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306153	Tmem231	transmembrane protein 231	gene	DOID:0050777	Joubert syndrome		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:23012439|PMID:23349226|PMID:25741868|PMID:25869670|PMID:26489029|PMID:28492532|PMID:32055034|PMID:32386258|PMID:34354814
1306153	Tmem231	transmembrane protein 231	gene	DOID:0060340	ciliopathy		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ciliopathy	PMID:16199547|PMID:23012439|PMID:23349226|PMID:25741868|PMID:28492532
1306153	Tmem231	transmembrane protein 231	gene	DOID:0060373	orofaciodigital syndrome III		ISO	RGD:3008206	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Orofaciodigital syndrome III	PMID:25741868|PMID:25869670|PMID:26489029|PMID:28492532|PMID:34354814
1306153	Tmem231	transmembrane protein 231	gene	DOID:0061296	Meckel syndrome 11		ISO	RGD:3008206	D	RGD:7240710	20140911	OMIM			
1306153	Tmem231	transmembrane protein 231	gene	DOID:0061296	Meckel syndrome 11		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MECKEL SYNDROME, TYPE 11 | ClinVar Annotator: match by term: Meckel syndrome 11 | ClinVar Annotator: match by term: Meckel syndrome, type 11 | ClinVar Annotator: match by term: TMEM231-related condition	PMID:16199547|PMID:17576681|PMID:23012439|PMID:23169490|PMID:23349226|PMID:25741868|PMID:25869670|PMID:26123494|PMID:26489029|PMID:27711071|PMID:28492532|PMID:30143558|PMID:32055034|PMID:32386258|PMID:32552793|PMID:33057194|PMID:34354814|PMID:35982159|PMID:39669259|PMID:40725402|PMID:9536098
1306153	Tmem231	transmembrane protein 231	gene	DOID:0110989	Joubert syndrome 20		ISO	RGD:3008206	D	RGD:7240710	20140911	OMIM			
1306153	Tmem231	transmembrane protein 231	gene	DOID:0110989	Joubert syndrome 20		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 20 | ClinVar Annotator: match by term: Joubert syndrome 20	PMID:16199547|PMID:17576681|PMID:23012439|PMID:23349226|PMID:25640679|PMID:25741868|PMID:25869670|PMID:26477546|PMID:26489029|PMID:26982032|PMID:27449316|PMID:27894351|PMID:28289185|PMID:28492532|PMID:31054281|PMID:32386258|PMID:33057194|PMID:34354814|PMID:35982159|PMID:9536098
1306153	Tmem231	transmembrane protein 231	gene	DOID:1059	intellectual disability		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1306153	Tmem231	transmembrane protein 231	gene	DOID:4362	cervical cancer		ISO	RGD:3008206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306153	Tmem231	transmembrane protein 231	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306153	Tmem231	transmembrane protein 231	gene	DOID:630	genetic disease		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25869670|PMID:26489029|PMID:28492532|PMID:34354814
1306153	Tmem231	transmembrane protein 231	gene	DOID:9007661	Dwarfism		ISO	RGD:3008206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1306153	Tmem231	transmembrane protein 231	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:3008206	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1306154	Copz1	coat protein complex I subunit zeta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306154	Copz1	coat protein complex I subunit zeta 1	gene	DOID:1324	lung cancer		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306154	Copz1	coat protein complex I subunit zeta 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306154	Copz1	coat protein complex I subunit zeta 1	gene	DOID:3275	thymoma		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306154	Copz1	coat protein complex I subunit zeta 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306154	Copz1	coat protein complex I subunit zeta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306154	Copz1	coat protein complex I subunit zeta 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306154	Copz1	coat protein complex I subunit zeta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306154	Copz1	coat protein complex I subunit zeta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1306155	Radil	Rap associating with DIL domain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306155	Radil	Rap associating with DIL domain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306155	Radil	Rap associating with DIL domain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306155	Radil	Rap associating with DIL domain	gene	DOID:1115	sarcoma		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306155	Radil	Rap associating with DIL domain	gene	DOID:1324	lung cancer		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306155	Radil	Rap associating with DIL domain	gene	DOID:1909	melanoma		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306155	Radil	Rap associating with DIL domain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306155	Radil	Rap associating with DIL domain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306156	Dclre1a	DNA cross-link repair 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306156	Dclre1a	DNA cross-link repair 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306156	Dclre1a	DNA cross-link repair 1A	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1314610	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1306156	Dclre1a	DNA cross-link repair 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1314610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306156	Dclre1a	DNA cross-link repair 1A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306156	Dclre1a	DNA cross-link repair 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306156	Dclre1a	DNA cross-link repair 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306156	Dclre1a	DNA cross-link repair 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306157	Prmt9	protein arginine methyltransferase 9	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1601836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:41260215
1306157	Prmt9	protein arginine methyltransferase 9	gene	DOID:0061294	Meckel syndrome 9		ISO	RGD:1601836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meckel syndrome, type 9	PMID:25741868
1306157	Prmt9	protein arginine methyltransferase 9	gene	DOID:10907	microcephaly		ISO	RGD:1601836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:41260215
1306157	Prmt9	protein arginine methyltransferase 9	gene	DOID:11836	clubfoot		ISO	RGD:1601836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:41260215
1306157	Prmt9	protein arginine methyltransferase 9	gene	DOID:9001031	Retrognathia		ISO	RGD:1601836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:41260215
1306157	Prmt9	protein arginine methyltransferase 9	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1601836	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
1306157	Prmt9	protein arginine methyltransferase 9	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1601836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868|PMID:41260215
1306157	Prmt9	protein arginine methyltransferase 9	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1314612	D	RGD:11561325|PMID:27506785	20250326	RGD		mRNA:decreased expression:nucleus accumbens (mouse)	
1306157	Prmt9	protein arginine methyltransferase 9	gene	DOID:9007661	Dwarfism		ISO	RGD:1601836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:41260215
1306157	Prmt9	protein arginine methyltransferase 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:41260215
1306158	Hoxb9	homeo box B9	gene	DOID:10534	stomach cancer		ISO	RGD:1314613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306158	Hoxb9	homeo box B9	gene	DOID:3275	thymoma		ISO	RGD:1314613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306158	Hoxb9	homeo box B9	gene	DOID:5041	esophageal cancer		ISO	RGD:1314613	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306158	Hoxb9	homeo box B9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306158	Hoxb9	homeo box B9	gene	DOID:9000647	Acute Erythroleukemia		ISO	RGD:1314613	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30926971
1306158	Hoxb9	homeo box B9	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314613	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27182052
1306158	Hoxb9	homeo box B9	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1314613	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27182052
1306158	Hoxb9	homeo box B9	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1314613	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27182052
1306158	Hoxb9	homeo box B9	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1314613	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27182052
1306159	Atp6v0d1	ATPase H+ transporting V0 subunit D1	gene	DOID:0050700	cardiomyopathy		ISS	RGD:1314616	D	RGD:13592920	20240404	MouseDO			
1306159	Atp6v0d1	ATPase H+ transporting V0 subunit D1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306159	Atp6v0d1	ATPase H+ transporting V0 subunit D1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306159	Atp6v0d1	ATPase H+ transporting V0 subunit D1	gene	DOID:1324	lung cancer		ISO	RGD:1314615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306159	Atp6v0d1	ATPase H+ transporting V0 subunit D1	gene	DOID:3275	thymoma		ISO	RGD:1314615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306159	Atp6v0d1	ATPase H+ transporting V0 subunit D1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314615	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306159	Atp6v0d1	ATPase H+ transporting V0 subunit D1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306159	Atp6v0d1	ATPase H+ transporting V0 subunit D1	gene	DOID:811	lipodystrophy		ISS	RGD:1314616	D	RGD:13592920	20240404	MouseDO			
1306159	Atp6v0d1	ATPase H+ transporting V0 subunit D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:0060058	lymphoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:10283	prostate cancer		ISO	RGD:1314617	D	RGD:8554872	20201201	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:10283	prostate cancer		ISO	RGD:1314617	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1314617	D	RGD:150429774|PMID:20095042	20210928	RGD		DNA:hypermethylation	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:1059	intellectual disability		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:1314618	D	RGD:151665140|PMID:23150673	20220311	RGD		mRNA:increased expression:hippocampus (mouse)	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:1115	sarcoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:1324	lung cancer		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:1324	lung cancer	severity	ISO	RGD:1314617	D	RGD:150429789|PMID:33219256	20210929	RGD		DNA:mutations: :multiple (human)	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:31164891|PMID:31493933|PMID:35101336
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:162	cancer		ISO	RGD:1314617	D	RGD:8554872	20210209	ClinVar		ClinVar Annotator: match by term: Cancer	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:1909	melanoma		ISO	RGD:1314617	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:22197931
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:1909	melanoma	ameliorates	ISO	RGD:1314617	D	RGD:150429775|PMID:31164891	20210928	RGD		DNA:mutations:multiple: (human)	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:219	colon cancer		ISO	RGD:1314617	D	RGD:150429777|PMID:28408316	20210928	RGD		human cells in a mouse moel	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:2394	ovarian cancer		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:3070	high grade glioma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1314617	D	RGD:150429784|PMID:28522810	20210929	RGD		associated with lung adenocarcinoma;DNA:mutations:multiple: (human)	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:3121	gallbladder cancer	ameliorates	ISO	RGD:1314617	D	RGD:150429787|PMID:32898339	20210929	RGD		DNA:mutations:multiple: (human)	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:24332040|PMID:24436047|PMID:27993330|PMID:28408316
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:3275	thymoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1314617	D	RGD:150429775|PMID:31164891	20210928	RGD		DNA:mutations:multiple: (human)	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1314617	D	RGD:11064706|PMID:18948947	20210929	RGD		DNA:mutations:multiple: (human)	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1314617	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:4928	intrahepatic cholangiocarcinoma	exacerbates	ISO	RGD:1314617	D	RGD:150429786|PMID:33014052	20210929	RGD		DNA:mutations:multiple: (human)	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314617	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:630	genetic disease		ISO	RGD:1314617	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1314617	D	RGD:150429776|PMID:33324588	20210928	RGD		protein:increased expression:liver (human)	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1314617	D	RGD:150429785|PMID:33391418	20210929	RGD		DNA:mutations:multiple: (human)	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:9002189	High Myopia		ISO	RGD:1314617	D	RGD:8554872	20201201	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314617	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:9006599	Hypertriglyceridemia	treatment	HDA		D	RGD:151665141|PMID:30905023	20220311	RGD			
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1314617	D	RGD:150429788|PMID:33836681	20210929	RGD		DNA:mutations, haplotype:multiple: (human)	
1306160	Lrp1b	LDL receptor related protein 1B	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1314617	D	RGD:150429790|PMID:31693169	20210929	RGD		DNA:mutations, hpalotype:multiple (human)	
1306161	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:1909	melanoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306161	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:3275	thymoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306161	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1314619	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1306161	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:4362	cervical cancer		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306161	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306161	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306161	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306161	Fkbp11	FKBP prolyl isomerase 11	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1314619	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1306163	Ephb6	Eph receptor B6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306163	Ephb6	Eph receptor B6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306163	Ephb6	Eph receptor B6	gene	DOID:1115	sarcoma		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306163	Ephb6	Eph receptor B6	gene	DOID:12365	malaria		ISO	RGD:1314624	D	RGD:127285023|PMID:25784101	20210616	RGD			
1306163	Ephb6	Eph receptor B6	gene	DOID:1324	lung cancer		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306163	Ephb6	Eph receptor B6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306163	Ephb6	Eph receptor B6	gene	DOID:2661	myoepithelioma		ISO	RGD:1314623	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1306163	Ephb6	Eph receptor B6	gene	DOID:5041	esophageal cancer		ISO	RGD:1314623	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306163	Ephb6	Eph receptor B6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306163	Ephb6	Eph receptor B6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306163	Ephb6	Eph receptor B6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306163	Ephb6	Eph receptor B6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306163	Ephb6	Eph receptor B6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306164	Zcchc24	zinc finger CCHC-type containing 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306164	Zcchc24	zinc finger CCHC-type containing 24	gene	DOID:1115	sarcoma		ISO	RGD:1314625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306164	Zcchc24	zinc finger CCHC-type containing 24	gene	DOID:1909	melanoma		ISO	RGD:1314625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306164	Zcchc24	zinc finger CCHC-type containing 24	gene	DOID:4362	cervical cancer		ISO	RGD:1314625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306164	Zcchc24	zinc finger CCHC-type containing 24	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306164	Zcchc24	zinc finger CCHC-type containing 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306164	Zcchc24	zinc finger CCHC-type containing 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1314629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:24719489|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:32367277|PMID:33097556|PMID:33417001|PMID:34234304|PMID:34565360|PMID:34663476
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:0080029	autosomal recessive spinocerebellar ataxia 16		ISO	RGD:1314629	D	RGD:7240710	20141022	OMIM			
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:0080029	autosomal recessive spinocerebellar ataxia 16		ISO	RGD:1314629	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	PMID:10330192|PMID:24312598|PMID:24719489|PMID:25258038|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:32367277|PMID:32713943|PMID:33097556|PMID:33200713|PMID:33417001|PMID:34234304|PMID:34565360|PMID:34663476|PMID:36422518
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:0080029	autosomal recessive spinocerebellar ataxia 16		ISS	RGD:1314630	D	RGD:13592920	20230718	MouseDO		OMIM:615768	
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1314629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron accumulation in brain	PMID:25741868
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1314629	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:10330192|PMID:25258038|PMID:25741868|PMID:28396517|PMID:32713943|PMID:36422518
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:0111746	cerebellar ataxia type 48		ISO	RGD:1314629	D	RGD:7240710	20190315	OMIM			
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:0111746	cerebellar ataxia type 48		ISO	RGD:1314629	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 48 | ClinVar Annotator: match by term: STUB1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 48	PMID:10330192|PMID:24719489|PMID:25258038|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:32367277|PMID:32713943|PMID:33097556|PMID:33417001|PMID:33564152|PMID:33811518|PMID:34234304|PMID:34565360|PMID:34663476|PMID:34906452|PMID:35398354|PMID:35438269|PMID:36422518
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1314629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:24719489|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:32367277|PMID:33097556|PMID:33417001|PMID:34234304|PMID:34565360|PMID:34663476
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:630	genetic disease		ISO	RGD:1314629	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24719489|PMID:25258038|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:32367277|PMID:33097556|PMID:33417001|PMID:34234304|PMID:34565360|PMID:34663476
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1314629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:24719489|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:32367277|PMID:33097556|PMID:33417001|PMID:34234304|PMID:34565360|PMID:34663476
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1314629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1314629	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1314629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:24719489|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:32367277|PMID:33097556|PMID:33417001|PMID:34234304|PMID:34565360|PMID:34663476
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314629	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:10330192|PMID:25258038|PMID:25741868|PMID:28396517|PMID:32713943|PMID:36422518
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1314629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:24719489|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:32367277|PMID:33097556|PMID:33417001|PMID:34234304|PMID:34565360|PMID:34663476
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:9004866	Ataxia		ISO	RGD:1314629	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:10330192|PMID:24719489|PMID:25258038|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:32367277|PMID:32713943|PMID:33097556|PMID:33417001|PMID:34234304|PMID:34565360|PMID:34663476|PMID:36422518
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1314629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1314629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:24719489|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:32367277|PMID:33097556|PMID:33417001|PMID:34234304|PMID:34565360|PMID:34663476
1306167	Stub1	STIP1 homology and U-box containing protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:10534	stomach cancer		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:1115	sarcoma		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:1324	lung cancer		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1314631	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25759212
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:1909	melanoma		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:37	skin disease		ISO	RGD:1314631	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25759212
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:4362	cervical cancer		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:5041	esophageal cancer		ISO	RGD:1314631	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:5419	schizophrenia		ISO	RGD:1314631	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314631	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1314631	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25759212
1306168	Inpp5a	inositol polyphosphate-5-phosphatase A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306169	Exosc8	exosome component 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306169	Exosc8	exosome component 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306169	Exosc8	exosome component 8	gene	DOID:0050952	spastic ataxia		ISO	RGD:1314633	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
1306169	Exosc8	exosome component 8	gene	DOID:0112334	pontocerebellar hypoplasia type 1C		ISO	RGD:1314633	D	RGD:7240710	20170405	OMIM			
1306169	Exosc8	exosome component 8	gene	DOID:0112334	pontocerebellar hypoplasia type 1C		ISO	RGD:1314633	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: EXOSC8-related condition | ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1C | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1c	PMID:24989451|PMID:25741868|PMID:28492532|PMID:29431110|PMID:30581635|PMID:31664448|PMID:31980526|PMID:38622473
1306169	Exosc8	exosome component 8	gene	DOID:1115	sarcoma		ISO	RGD:1314633	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306169	Exosc8	exosome component 8	gene	DOID:1324	lung cancer		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306169	Exosc8	exosome component 8	gene	DOID:1909	melanoma		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306169	Exosc8	exosome component 8	gene	DOID:3275	thymoma		ISO	RGD:1314633	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306169	Exosc8	exosome component 8	gene	DOID:4362	cervical cancer		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306169	Exosc8	exosome component 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306169	Exosc8	exosome component 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306169	Exosc8	exosome component 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306171	Tiparp	TCDD-inducible poly(ADP-ribose) polymerase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306171	Tiparp	TCDD-inducible poly(ADP-ribose) polymerase	gene	DOID:10534	stomach cancer		ISO	RGD:1314636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306171	Tiparp	TCDD-inducible poly(ADP-ribose) polymerase	gene	DOID:1115	sarcoma		ISO	RGD:1314636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306171	Tiparp	TCDD-inducible poly(ADP-ribose) polymerase	gene	DOID:1324	lung cancer		ISO	RGD:1314636	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306171	Tiparp	TCDD-inducible poly(ADP-ribose) polymerase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306171	Tiparp	TCDD-inducible poly(ADP-ribose) polymerase	gene	DOID:3275	thymoma		ISO	RGD:1314636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306171	Tiparp	TCDD-inducible poly(ADP-ribose) polymerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306171	Tiparp	TCDD-inducible poly(ADP-ribose) polymerase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1314636	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20852632
1306171	Tiparp	TCDD-inducible poly(ADP-ribose) polymerase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306171	Tiparp	TCDD-inducible poly(ADP-ribose) polymerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306171	Tiparp	TCDD-inducible poly(ADP-ribose) polymerase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306172	Rnd2	Rho family GTPase 2	gene	DOID:1909	melanoma		ISO	RGD:1346063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306172	Rnd2	Rho family GTPase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306173	Stk32b	serine/threonine kinase 32B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306173	Stk32b	serine/threonine kinase 32B	gene	DOID:2843	long QT syndrome		ISO	RGD:1314640	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1306173	Stk32b	serine/threonine kinase 32B	gene	DOID:4362	cervical cancer		ISO	RGD:1314640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306173	Stk32b	serine/threonine kinase 32B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314640	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306173	Stk32b	serine/threonine kinase 32B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306173	Stk32b	serine/threonine kinase 32B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306173	Stk32b	serine/threonine kinase 32B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306173	Stk32b	serine/threonine kinase 32B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306174	Lhx6	LIM homeobox 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306174	Lhx6	LIM homeobox 6	gene	DOID:1115	sarcoma		ISO	RGD:1314642	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306174	Lhx6	LIM homeobox 6	gene	DOID:1324	lung cancer		ISO	RGD:1314642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306174	Lhx6	LIM homeobox 6	gene	DOID:1909	melanoma		ISO	RGD:1314642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306174	Lhx6	LIM homeobox 6	gene	DOID:4362	cervical cancer		ISO	RGD:1314642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306174	Lhx6	LIM homeobox 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1314642	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306174	Lhx6	LIM homeobox 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306174	Lhx6	LIM homeobox 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306174	Lhx6	LIM homeobox 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306176	Fcrla	Fc receptor-like A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306176	Fcrla	Fc receptor-like A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306177	Arfgap2	ARF GTPase activating protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306177	Arfgap2	ARF GTPase activating protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306177	Arfgap2	ARF GTPase activating protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306177	Arfgap2	ARF GTPase activating protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314646	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306177	Arfgap2	ARF GTPase activating protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306177	Arfgap2	ARF GTPase activating protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306177	Arfgap2	ARF GTPase activating protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306177	Arfgap2	ARF GTPase activating protein 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1314646	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306177	Arfgap2	ARF GTPase activating protein 2	gene	DOID:9000918	Disease Progression		ISO	RGD:1314646	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306177	Arfgap2	ARF GTPase activating protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306177	Arfgap2	ARF GTPase activating protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306177	Arfgap2	ARF GTPase activating protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306177	Arfgap2	ARF GTPase activating protein 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1314646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306178	Slc26a11	solute carrier family 26 member 11	gene	DOID:10534	stomach cancer		ISO	RGD:1314648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306178	Slc26a11	solute carrier family 26 member 11	gene	DOID:1115	sarcoma		ISO	RGD:1314648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306178	Slc26a11	solute carrier family 26 member 11	gene	DOID:1909	melanoma		ISO	RGD:1314648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306178	Slc26a11	solute carrier family 26 member 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306178	Slc26a11	solute carrier family 26 member 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1314648	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306178	Slc26a11	solute carrier family 26 member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306178	Slc26a11	solute carrier family 26 member 11	gene	DOID:6039	uveal melanoma		ISO	RGD:1314648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306178	Slc26a11	solute carrier family 26 member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306178	Slc26a11	solute carrier family 26 member 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306179	Chrdl2	chordin-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306179	Chrdl2	chordin-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306179	Chrdl2	chordin-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306179	Chrdl2	chordin-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306179	Chrdl2	chordin-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:1324	lung cancer		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:3070	high grade glioma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:3275	thymoma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:4362	cervical cancer		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1314652	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1314652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306180	Leng8	leukocyte receptor cluster member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306181	Tmem150b	transmembrane protein 150B	gene	DOID:0080600	COVID-19		ISO	RGD:2304150	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306181	Tmem150b	transmembrane protein 150B	gene	DOID:1324	lung cancer		ISO	RGD:2304150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306181	Tmem150b	transmembrane protein 150B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2304150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306181	Tmem150b	transmembrane protein 150B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2304150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306181	Tmem150b	transmembrane protein 150B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2304150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306182	Phospho1	phosphoethanolamine/phosphocholine phosphatase 1	gene	DOID:1115	sarcoma		ISO	RGD:1314655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306182	Phospho1	phosphoethanolamine/phosphocholine phosphatase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306182	Phospho1	phosphoethanolamine/phosphocholine phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306182	Phospho1	phosphoethanolamine/phosphocholine phosphatase 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1314655	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:26773408
1306183	Krr1	KRR1 small subunit processome component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306183	Krr1	KRR1 small subunit processome component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306183	Krr1	KRR1 small subunit processome component	gene	DOID:1324	lung cancer		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306183	Krr1	KRR1 small subunit processome component	gene	DOID:1909	melanoma		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306183	Krr1	KRR1 small subunit processome component	gene	DOID:5041	esophageal cancer		ISO	RGD:1314657	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306183	Krr1	KRR1 small subunit processome component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306183	Krr1	KRR1 small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306183	Krr1	KRR1 small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306183	Krr1	KRR1 small subunit processome component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306184	Rbm42	RNA binding motif protein 42	gene	DOID:1324	lung cancer		ISO	RGD:1601847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306184	Rbm42	RNA binding motif protein 42	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306184	Rbm42	RNA binding motif protein 42	gene	DOID:5041	esophageal cancer		ISO	RGD:1601847	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306184	Rbm42	RNA binding motif protein 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306184	Rbm42	RNA binding motif protein 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:1606326	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17488656
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:0060782	EEC syndrome		ISS	RGD:1552150	D	RGD:13592920	20250724	MouseDO			
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:0080600	COVID-19		ISO	RGD:1606326	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:0110213	isolated cleft palate		ISO	RGD:1606326	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Isolated cleft palate	PMID:25741868
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606326	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:10534	stomach cancer		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:1324	lung cancer		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:1909	melanoma		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:4362	cervical cancer		ISO	RGD:1606326	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:630	genetic disease		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:674	cleft palate		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306185	Arhgap29	Rho GTPase activating protein 29	gene	DOID:9296	cleft lip		ISO	RGD:1606326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate	
1306189	Wdr37	WD repeat domain 37	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306189	Wdr37	WD repeat domain 37	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1314666	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:31327508|PMID:31327510|PMID:31780822
1306189	Wdr37	WD repeat domain 37	gene	DOID:0111675	neurooculocardiogenitourinary syndrome		ISO	RGD:1314666	D	RGD:7240710	20200219	OMIM			
1306189	Wdr37	WD repeat domain 37	gene	DOID:0111675	neurooculocardiogenitourinary syndrome		ISO	RGD:1314666	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROOCULOCARDIOGENITOURINARY SYNDROME | ClinVar Annotator: match by term: Neurooculocardiogenitourinary syndrome | ClinVar Annotator: match by term: WDR37-related condition	PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318|PMID:31780822|PMID:34642815
1306189	Wdr37	WD repeat domain 37	gene	DOID:10534	stomach cancer		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1306189	Wdr37	WD repeat domain 37	gene	DOID:1059	intellectual disability		ISO	RGD:1314666	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:31474318
1306189	Wdr37	WD repeat domain 37	gene	DOID:1059	intellectual disability		ISO	RGD:1314666	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:31327508|PMID:31327510|PMID:31780822
1306189	Wdr37	WD repeat domain 37	gene	DOID:10907	microcephaly		ISO	RGD:1314666	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	PMID:25741868|PMID:31474318
1306189	Wdr37	WD repeat domain 37	gene	DOID:1115	sarcoma		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306189	Wdr37	WD repeat domain 37	gene	DOID:11162	respiratory failure		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868|PMID:31327510|PMID:31474318|PMID:31491411
1306189	Wdr37	WD repeat domain 37	gene	DOID:12270	coloboma		ISO	RGD:1314666	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:25741868|PMID:31327508|PMID:31327510|PMID:31780822
1306189	Wdr37	WD repeat domain 37	gene	DOID:1324	lung cancer		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1306189	Wdr37	WD repeat domain 37	gene	DOID:1826	epilepsy		ISO	RGD:1314666	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868|PMID:31327510|PMID:31474318|PMID:31491411
1306189	Wdr37	WD repeat domain 37	gene	DOID:1826	epilepsy		ISO	RGD:1314666	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	
1306189	Wdr37	WD repeat domain 37	gene	DOID:1826	epilepsy		ISO	RGD:1314666	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868|PMID:31327508|PMID:31327510|PMID:31780822
1306189	Wdr37	WD repeat domain 37	gene	DOID:4362	cervical cancer		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306189	Wdr37	WD repeat domain 37	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306189	Wdr37	WD repeat domain 37	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306189	Wdr37	WD repeat domain 37	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306189	Wdr37	WD repeat domain 37	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306189	Wdr37	WD repeat domain 37	gene	DOID:630	genetic disease		ISO	RGD:1314666	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:31327508|PMID:31327510|PMID:31780822|PMID:34642815
1306189	Wdr37	WD repeat domain 37	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:31327510|PMID:31474318|PMID:31491411
1306189	Wdr37	WD repeat domain 37	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314666	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Facial hypotonia	PMID:25741868|PMID:31474318
1306189	Wdr37	WD repeat domain 37	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306189	Wdr37	WD repeat domain 37	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314666	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318
1306189	Wdr37	WD repeat domain 37	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314666	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31474318
1306189	Wdr37	WD repeat domain 37	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314666	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868|PMID:31327508|PMID:31327510|PMID:31780822
1306189	Wdr37	WD repeat domain 37	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306189	Wdr37	WD repeat domain 37	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1314666	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive ventriculomegaly	PMID:25741868|PMID:31474318
1306189	Wdr37	WD repeat domain 37	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1306189	Wdr37	WD repeat domain 37	gene	DOID:9256	colorectal cancer		ISO	RGD:1314666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:1024	leprosy		ISO	RGD:1314669	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Leprosy, susceptibility to, 1	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:11830	myopia		ISO	RGD:1314669	D	RGD:12902630|PMID:18846214	20170509	RGD		DNA:snp:intron:c.511+3941G>A (rs6775202)(human)	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:2018	hyperinsulinism		ISO	RGD:1314669	D	RGD:12880443|PMID:15729572	20170508	RGD		DNA:missense mutation:cds:p.L262V (human)	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:2018	hyperinsulinism	no_association	ISO	RGD:1314669	D	RGD:12880445|PMID:19185381	20170508	RGD		DNA:missense mutation:cds:p.L262V (human)	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:224	transient cerebral ischemia	severity	ISO	RGD:1550418	D	RGD:12902620|PMID:23921894	20170509	RGD			
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1314669	D	RGD:12902623|PMID:18758826	20170509	RGD		DNA:missense mutation:cds:p.L262V (human)	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:1314669	D	RGD:12902629|PMID:24185965	20170509	RGD		mRNA:increased expression:breast (human)	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:3652	Leigh disease		ISS	RGD:1550418	D	RGD:13592920	20190314	MouseDO		OMIM:220111 | OMIM:256000	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:4362	cervical cancer		ISO	RGD:1314669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1314669	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:1314669	D	RGD:12902617|PMID:20407791	20170509	RGD		DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human)	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:705	Leber hereditary optic neuropathy	no_association	ISO	RGD:1314669	D	RGD:12902618|PMID:20711738	20170509	RGD		DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human)	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:9007346	Cachexia		ISO	RGD:1550418	D	RGD:12902627|PMID:16839884	20170509	RGD			
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:9007692	Insulin Resistance		IEP		D	RGD:12880442|PMID:19859837	20170508	RGD		mRNA:decreased expression:gastrocnemius (rat)	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314669	D	RGD:12902628|PMID:20444421	20170509	RGD		mRNA:decreased expression:vastus lateralis (human)	
1306191	Parl	presenilin associated, rhomboid-like	gene	DOID:9352	type 2 diabetes mellitus	onset	ISO	RGD:1314669	D	RGD:12880445|PMID:19185381	20170508	RGD		DNA:missense mutation:cds:p.L262V (human)	
1306192	Ntpcr	nucleoside-triphosphatase, cancer-related	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306192	Ntpcr	nucleoside-triphosphatase, cancer-related	gene	DOID:1324	lung cancer		ISO	RGD:1604264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306192	Ntpcr	nucleoside-triphosphatase, cancer-related	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306192	Ntpcr	nucleoside-triphosphatase, cancer-related	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306192	Ntpcr	nucleoside-triphosphatase, cancer-related	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306192	Ntpcr	nucleoside-triphosphatase, cancer-related	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306193	Slc25a39	solute carrier family 25, member 39	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306193	Slc25a39	solute carrier family 25, member 39	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306193	Slc25a39	solute carrier family 25, member 39	gene	DOID:1324	lung cancer		ISO	RGD:1604622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306193	Slc25a39	solute carrier family 25, member 39	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306193	Slc25a39	solute carrier family 25, member 39	gene	DOID:4362	cervical cancer		ISO	RGD:1604622	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306193	Slc25a39	solute carrier family 25, member 39	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306193	Slc25a39	solute carrier family 25, member 39	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1306193	Slc25a39	solute carrier family 25, member 39	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306193	Slc25a39	solute carrier family 25, member 39	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306193	Slc25a39	solute carrier family 25, member 39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306196	Eif5a2	eukaryotic translation initiation factor 5A2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314674	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306196	Eif5a2	eukaryotic translation initiation factor 5A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306196	Eif5a2	eukaryotic translation initiation factor 5A2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314674	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306196	Eif5a2	eukaryotic translation initiation factor 5A2	gene	DOID:9002644	Premature Aging		ISO	RGD:1314674	D	RGD:10395359|PMID:21612665	20150902	RGD			
1306196	Eif5a2	eukaryotic translation initiation factor 5A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306198	Zfp319	zinc finger protein 319	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306198	Zfp319	zinc finger protein 319	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:0111766	X-linked VACTERL association		ISO	RGD:1314679	D	RGD:8554872	20171212	ClinVar		ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:1115	sarcoma		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:1909	melanoma		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:3070	high grade glioma		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306199	Baz1a	bromodomain adjacent to zinc finger domain, 1A	gene	DOID:9256	colorectal cancer		ISO	RGD:1314679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:0060058	lymphoma		ISO	RGD:1314681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1314681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1314681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1314681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314681	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306200	Lrch3	leucine rich repeats and calponin homology domain containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1314681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		IEP		D	RGD:401960876|PMID:31805951	20240201	RGD		mRNA:increased expression:liver (rat)	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	disease_progression	ISO	RGD:1314683	D	RGD:401960878|PMID:36034446	20240201	RGD		mRNA:increased expression:liver (human)	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	disease_progression	ISO	RGD:1314683	D	RGD:401960879|PMID:35312185	20240201	RGD		mRNA:increased expression:liver (human)	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:1314684	D	RGD:401960873|PMID:31397492	20240201	RGD			
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:1115	sarcoma		ISO	RGD:1314683	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:1612	breast cancer	ameliorates	ISO	RGD:1314683	D	RGD:401960874|PMID:34606580	20240201	RGD		protein:decreased expression:breast (human)	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:3070	high grade glioma		ISO	RGD:1314683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:4450	renal cell carcinoma		IEP		D	RGD:1626565|PMID:10854235	20070810	RGD		mRNA:decreased expression:kidney	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1314683	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:630	genetic disease		ISO	RGD:1314683	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1314683	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:9000951	Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis		ISO	RGD:1314683	D	RGD:7240710	20140911	OMIM			
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:9000951	Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis		ISO	RGD:1314683	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial retinal arterial macroaneurysm | ClinVar Annotator: match by term: RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVASCULAR PULMONIC STENOSIS	PMID:25741868
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314683	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	IEP		D	RGD:401976485|PMID:25691930	20240227	RGD			
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314683	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:12592389
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:1314683	D	RGD:401960875|PMID:25543030	20240201	RGD		protein:increased expression:plasma (human)	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1314683	D	RGD:1626516|PMID:16873698	20070810	RGD		protein:increased expression:serum	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1314684	D	RGD:401960873|PMID:31397492	20240201	RGD		associated with metabolic dysfunction-associated steatotic liver disease	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:9007730	Burns		IEP		D	RGD:1626551|PMID:11742840	20070810	RGD		mRNA:increased expression:liver	
1306201	Igfbp7	insulin-like growth factor binding protein 7	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1314683	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:12592389
1306202	Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1314685	D	RGD:8554872	20220104	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:25741868|PMID:28492532
1306202	Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1314685	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306202	Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1314685	D	RGD:8554872	20200707	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532
1306202	Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1	gene	DOID:0112089	nuclear type mitochondrial complex I deficiency 11		ISO	RGD:1314685	D	RGD:7240710	20190315	OMIM			
1306202	Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1	gene	DOID:0112089	nuclear type mitochondrial complex I deficiency 11		ISO	RGD:1314685	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 11 | ClinVar Annotator: match by term: NDUFAF1-related condition	PMID:17557076|PMID:21931170|PMID:25741868|PMID:28492532
1306202	Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1	gene	DOID:1909	melanoma		ISO	RGD:1314685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306202	Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306203	Serpinb1a	serpin family B member 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306203	Serpinb1a	serpin family B member 1A	gene	DOID:1115	sarcoma		ISO	RGD:1314687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306203	Serpinb1a	serpin family B member 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306203	Serpinb1a	serpin family B member 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306203	Serpinb1a	serpin family B member 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306204	Pde6d	phosphodiesterase 6D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306204	Pde6d	phosphodiesterase 6D	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1314689	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis	
1306204	Pde6d	phosphodiesterase 6D	gene	DOID:0110991	Joubert syndrome 22		ISO	RGD:1314689	D	RGD:7240710	20140911	OMIM			
1306204	Pde6d	phosphodiesterase 6D	gene	DOID:0110991	Joubert syndrome 22		ISO	RGD:1314689	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 22 | ClinVar Annotator: match by term: Joubert syndrome 22 | ClinVar Annotator: match by term: PDE6D-related condition	PMID:17496142|PMID:17576681|PMID:24166846|PMID:25741868|PMID:28492532|PMID:30423442|PMID:9536098
1306204	Pde6d	phosphodiesterase 6D	gene	DOID:10534	stomach cancer		ISO	RGD:1314689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306204	Pde6d	phosphodiesterase 6D	gene	DOID:630	genetic disease		ISO	RGD:1314689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306204	Pde6d	phosphodiesterase 6D	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1314689	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	
1306204	Pde6d	phosphodiesterase 6D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306205	Cdk15	cyclin-dependent kinase 15	gene	DOID:10534	stomach cancer		ISO	RGD:1314644	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306205	Cdk15	cyclin-dependent kinase 15	gene	DOID:2154	nephroblastoma		ISO	RGD:1314644	D	RGD:2316755|PMID:12057921	20100714	RGD		mRNA:increased expression:kidney	
1306205	Cdk15	cyclin-dependent kinase 15	gene	DOID:3275	thymoma		ISO	RGD:1314644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306205	Cdk15	cyclin-dependent kinase 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1314644	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306205	Cdk15	cyclin-dependent kinase 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306205	Cdk15	cyclin-dependent kinase 15	gene	DOID:6039	uveal melanoma		ISO	RGD:1314644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306205	Cdk15	cyclin-dependent kinase 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306206	Kif21b	kinesin family member 21B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306206	Kif21b	kinesin family member 21B	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1343896	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868
1306206	Kif21b	kinesin family member 21B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306206	Kif21b	kinesin family member 21B	gene	DOID:10534	stomach cancer		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306206	Kif21b	kinesin family member 21B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306206	Kif21b	kinesin family member 21B	gene	DOID:1115	sarcoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306206	Kif21b	kinesin family member 21B	gene	DOID:1324	lung cancer		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306206	Kif21b	kinesin family member 21B	gene	DOID:2316	brain ischemia		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral ischemia	PMID:25741868
1306206	Kif21b	kinesin family member 21B	gene	DOID:2843	long QT syndrome		ISO	RGD:1343896	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1306206	Kif21b	kinesin family member 21B	gene	DOID:3070	high grade glioma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306206	Kif21b	kinesin family member 21B	gene	DOID:3275	thymoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306206	Kif21b	kinesin family member 21B	gene	DOID:4362	cervical cancer		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306206	Kif21b	kinesin family member 21B	gene	DOID:5041	esophageal cancer		ISO	RGD:1343896	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306206	Kif21b	kinesin family member 21B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306206	Kif21b	kinesin family member 21B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306206	Kif21b	kinesin family member 21B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306206	Kif21b	kinesin family member 21B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306206	Kif21b	kinesin family member 21B	gene	DOID:8577	ulcerative colitis		ISO	RGD:1343896	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799
1306206	Kif21b	kinesin family member 21B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306206	Kif21b	kinesin family member 21B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343896	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KIF21B-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:32415109
1306206	Kif21b	kinesin family member 21B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1306206	Kif21b	kinesin family member 21B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306206	Kif21b	kinesin family member 21B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306207	Pphln1	periphilin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306207	Pphln1	periphilin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306207	Pphln1	periphilin 1	gene	DOID:1115	sarcoma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306207	Pphln1	periphilin 1	gene	DOID:1324	lung cancer		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306207	Pphln1	periphilin 1	gene	DOID:3070	high grade glioma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306207	Pphln1	periphilin 1	gene	DOID:3275	thymoma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306207	Pphln1	periphilin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306207	Pphln1	periphilin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306207	Pphln1	periphilin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306207	Pphln1	periphilin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306207	Pphln1	periphilin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306207	Pphln1	periphilin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306207	Pphln1	periphilin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306207	Pphln1	periphilin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306207	Pphln1	periphilin 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306209	Zfp746	zinc finger protein 746	gene	DOID:1115	sarcoma		ISO	RGD:1606138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306209	Zfp746	zinc finger protein 746	gene	DOID:1909	melanoma		ISO	RGD:1606138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306209	Zfp746	zinc finger protein 746	gene	DOID:3070	high grade glioma		ISO	RGD:1606138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306209	Zfp746	zinc finger protein 746	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306209	Zfp746	zinc finger protein 746	gene	DOID:4362	cervical cancer		ISO	RGD:1606138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306209	Zfp746	zinc finger protein 746	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606138	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306209	Zfp746	zinc finger protein 746	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606138	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306210	Spin1	spindlin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306210	Spin1	spindlin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306210	Spin1	spindlin 1	gene	DOID:1909	melanoma		ISO	RGD:1314698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306210	Spin1	spindlin 1	gene	DOID:3070	high grade glioma		ISO	RGD:1314698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306210	Spin1	spindlin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306210	Spin1	spindlin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306210	Spin1	spindlin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:0060180	colitis		ISO	RGD:1314700	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colitis	PMID:25174867|PMID:25741868|PMID:28492532|PMID:30455981|PMID:34930662|PMID:34985046|PMID:39495812
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:10534	stomach cancer		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:1115	sarcoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1314700	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Common variable immunodeficiency	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:9536098
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:1324	lung cancer		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:14671	multiple intestinal atresia		ISO	RGD:1314700	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:14671	multiple intestinal atresia		ISO	RGD:1314700	D	RGD:7240710	20130605	OMIM			
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:14671	multiple intestinal atresia		ISO	RGD:1314700	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 1 | ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 1 | ClinVar Annotator: match by term: Multiple gastrointestinal atresias | ClinVar Annotator: match by term: Multiple intestinal atresia | ClinVar Annotator: match by term: TTC7A-related condition	PMID:16199547|PMID:17576681|PMID:23423984|PMID:23830146|PMID:24292712|PMID:24417819|PMID:24931897|PMID:25174867|PMID:25534311|PMID:25587526|PMID:25741868|PMID:26193622|PMID:27418642|PMID:27577878|PMID:28492532|PMID:28936210|PMID:29174094|PMID:30455981|PMID:31342292|PMID:31616743|PMID:32084423|PMID:32888943|PMID:34930662|PMID:34975848|PMID:34985046|PMID:35627206|PMID:39495812|PMID:39873864|PMID:9536098
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:1909	melanoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:3070	high grade glioma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:3275	thymoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:4362	cervical cancer		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:5041	esophageal cancer		ISO	RGD:1314700	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:630	genetic disease		ISO	RGD:1314700	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:8893	psoriasis		ISS	RGD:1314701	D	RGD:13592920	20180518	MouseDO		OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1314700	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25174867|PMID:25741868|PMID:28492532|PMID:30455981|PMID:34930662|PMID:34985046|PMID:39495812
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1314700	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25174867|PMID:25741868|PMID:28492532|PMID:30455981|PMID:34930662|PMID:34985046|PMID:39495812
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	PMID:25741868|PMID:26938784
1306211	Ttc7a	tetratricopeptide repeat domain 7A	gene	DOID:9009203	Gastrointestinal defects and immunodeficiency syndrome		ISO	RGD:1314700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome	PMID:23423984|PMID:23830146|PMID:24417819|PMID:25174867|PMID:25741868|PMID:27418642|PMID:27577878|PMID:28492532|PMID:28936210|PMID:31616743|PMID:32084423|PMID:32888943
1306212	Tmem163	transmembrane protein 163	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306212	Tmem163	transmembrane protein 163	gene	DOID:0070401	hypomyelinating leukodystrophy 25		ISO	RGD:1604280	D	RGD:7240710	20230505	OMIM			
1306212	Tmem163	transmembrane protein 163	gene	DOID:0070401	hypomyelinating leukodystrophy 25		ISO	RGD:1604280	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 25 | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 25	PMID:25741868|PMID:35455965|PMID:35953447
1306212	Tmem163	transmembrane protein 163	gene	DOID:1909	melanoma		ISO	RGD:1604280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306212	Tmem163	transmembrane protein 163	gene	DOID:3070	high grade glioma		ISO	RGD:1604280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306212	Tmem163	transmembrane protein 163	gene	DOID:3275	thymoma		ISO	RGD:1604280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306212	Tmem163	transmembrane protein 163	gene	DOID:576	proteinuria		IAGP		D	RGD:12798539|PMID:21257920	20170324	RGD			
1306212	Tmem163	transmembrane protein 163	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306212	Tmem163	transmembrane protein 163	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306213	Pak6	p21 (RAC1) activated kinase 6	gene	DOID:4467	clear cell renal cell carcinoma	disease_progression	ISO	RGD:1314703	D	RGD:13506722|PMID:24715215	20180207	RGD			
1306213	Pak6	p21 (RAC1) activated kinase 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314703	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18642328
1306214	Csrnp3	cysteine and serine rich nuclear protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1605039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306214	Csrnp3	cysteine and serine rich nuclear protein 3	gene	DOID:303	substance-related disorder		ISO	RGD:1605039	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1306214	Csrnp3	cysteine and serine rich nuclear protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306214	Csrnp3	cysteine and serine rich nuclear protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306214	Csrnp3	cysteine and serine rich nuclear protein 3	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1605039	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1306215	Paxx	PAXX, non-homologous end joining factor	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1606404	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1306215	Paxx	PAXX, non-homologous end joining factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306215	Paxx	PAXX, non-homologous end joining factor	gene	DOID:1826	epilepsy		ISO	RGD:1606404	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Seizure	
1306215	Paxx	PAXX, non-homologous end joining factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306215	Paxx	PAXX, non-homologous end joining factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306215	Paxx	PAXX, non-homologous end joining factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306216	Tab1	TGF-beta activated kinase 1/MAP3K7 binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1314707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306216	Tab1	TGF-beta activated kinase 1/MAP3K7 binding protein 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1314707	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1306216	Tab1	TGF-beta activated kinase 1/MAP3K7 binding protein 1	gene	DOID:2841	asthma		ISO	RGD:1314707	D	RGD:632518354|PMID:19968634	20260205	RGD		DNA:SNP: :rs6001585	
1306216	Tab1	TGF-beta activated kinase 1/MAP3K7 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306216	Tab1	TGF-beta activated kinase 1/MAP3K7 binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306216	Tab1	TGF-beta activated kinase 1/MAP3K7 binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306220	Rexo4	RNA exonuclease 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306220	Rexo4	RNA exonuclease 4	gene	DOID:10534	stomach cancer		ISO	RGD:1314713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306220	Rexo4	RNA exonuclease 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306220	Rexo4	RNA exonuclease 4	gene	DOID:1115	sarcoma		ISO	RGD:1314713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306220	Rexo4	RNA exonuclease 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306220	Rexo4	RNA exonuclease 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306221	Mrps12	mitochondrial ribosomal protein S12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306221	Mrps12	mitochondrial ribosomal protein S12	gene	DOID:1909	melanoma		ISO	RGD:1314714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306221	Mrps12	mitochondrial ribosomal protein S12	gene	DOID:5041	esophageal cancer		ISO	RGD:1314714	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306221	Mrps12	mitochondrial ribosomal protein S12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306221	Mrps12	mitochondrial ribosomal protein S12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306221	Mrps12	mitochondrial ribosomal protein S12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306222	Metrn	meteorin, glial cell differentiation regulator	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306222	Metrn	meteorin, glial cell differentiation regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306222	Metrn	meteorin, glial cell differentiation regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306222	Metrn	meteorin, glial cell differentiation regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:10534	stomach cancer		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:1324	lung cancer		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:3275	thymoma		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:4362	cervical cancer		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1314717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306223	Aqr	aquarius intron-binding spliceosomal factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306225	Pip4p2	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2	gene	DOID:1115	sarcoma		ISO	RGD:1602110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306225	Pip4p2	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306225	Pip4p2	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602110	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306225	Pip4p2	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306225	Pip4p2	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306225	Pip4p2	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306225	Pip4p2	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306226	Tprg1	tumor protein p63 regulated 1	gene	DOID:1115	sarcoma		ISO	RGD:1605237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306226	Tprg1	tumor protein p63 regulated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306226	Tprg1	tumor protein p63 regulated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306227	C2h5orf34	similar to human chromosome 5 open reading frame 34	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306227	C2h5orf34	similar to human chromosome 5 open reading frame 34	gene	DOID:1115	sarcoma		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306227	C2h5orf34	similar to human chromosome 5 open reading frame 34	gene	DOID:1324	lung cancer		ISO	RGD:1601916	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306227	C2h5orf34	similar to human chromosome 5 open reading frame 34	gene	DOID:3275	thymoma		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306227	C2h5orf34	similar to human chromosome 5 open reading frame 34	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306227	C2h5orf34	similar to human chromosome 5 open reading frame 34	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306229	Setbp1	SET binding protein 1	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1314725	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23832011|PMID:26457647
1306229	Setbp1	SET binding protein 1	gene	DOID:0050486	exanthem		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	
1306229	Setbp1	SET binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306229	Setbp1	SET binding protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1314725	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306229	Setbp1	SET binding protein 1	gene	DOID:0060597	atypical chronic myeloid leukemia, BCR-ABL1 negative		ISO	RGD:1314725	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222956
1306229	Setbp1	SET binding protein 1	gene	DOID:0070059	autosomal dominant intellectual developmental disorder 29		ISO	RGD:1314725	D	RGD:7240710	20161116	OMIM			
1306229	Setbp1	SET binding protein 1	gene	DOID:0070059	autosomal dominant intellectual developmental disorder 29		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 29 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 29 | ClinVar Annotator: match by term: SETBP1-related disorder | ClinVar Annotator: match by term: intellectual disability, autosomal dominant 29	PMID:16199547|PMID:20436468|PMID:21037274|PMID:22333924|PMID:23020937|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:26467025|PMID:27824329|PMID:28346496|PMID:28492532|PMID:29300386|PMID:32005694|PMID:32460883|PMID:33391157|PMID:33867525|PMID:33907317|PMID:35322241|PMID:35982160|PMID:36147799|PMID:38923504|PMID:40144891|PMID:40665309|PMID:41282480
1306229	Setbp1	SET binding protein 1	gene	DOID:0070509	Schinzel-Giedion syndrome		ISO	RGD:1314725	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222956|PMID:23832012
1306229	Setbp1	SET binding protein 1	gene	DOID:0070509	Schinzel-Giedion syndrome		ISO	RGD:1314725	D	RGD:7240710	20130221	OMIM			
1306229	Setbp1	SET binding protein 1	gene	DOID:0070509	Schinzel-Giedion syndrome		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME | ClinVar Annotator: match by term: SETBP1-related condition | ClinVar Annotator: match by term: Schinzel-Giedion midface retraction syndrome | ClinVar Annotator: match by term: Schinzel-Giedion syndrome	PMID:18414213|PMID:20436468|PMID:21037274|PMID:23222956|PMID:23889083|PMID:25082129|PMID:25217958|PMID:25363760|PMID:25533962|PMID:25663181|PMID:25741868|PMID:26467025|PMID:27824329|PMID:28346496|PMID:28492532|PMID:31788832|PMID:32005694|PMID:32460883|PMID:33391157|PMID:36147799
1306229	Setbp1	SET binding protein 1	gene	DOID:0110823	hereditary spastic paraplegia 8		ISO	RGD:1314725	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia 8	PMID:25741868|PMID:28492532
1306229	Setbp1	SET binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306229	Setbp1	SET binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314726	D	RGD:11354809|PMID:27006499	20220311	RGD			
1306229	Setbp1	SET binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314725	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20436468|PMID:25217958
1306229	Setbp1	SET binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314725	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:20436468|PMID:21037274|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157|PMID:33907317|PMID:34490615
1306229	Setbp1	SET binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
1306229	Setbp1	SET binding protein 1	gene	DOID:10604	lactose intolerance		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactose intolerance	
1306229	Setbp1	SET binding protein 1	gene	DOID:10754	otitis media		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:20436468|PMID:21037274|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157|PMID:33907317|PMID:34490615
1306229	Setbp1	SET binding protein 1	gene	DOID:10892	hypospadias		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1306229	Setbp1	SET binding protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
1306229	Setbp1	SET binding protein 1	gene	DOID:11111	hydronephrosis		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
1306229	Setbp1	SET binding protein 1	gene	DOID:11782	astigmatism		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
1306229	Setbp1	SET binding protein 1	gene	DOID:11836	clubfoot		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
1306229	Setbp1	SET binding protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:16199547|PMID:21037274|PMID:25217958|PMID:25741868|PMID:28492532
1306229	Setbp1	SET binding protein 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
1306229	Setbp1	SET binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306229	Setbp1	SET binding protein 1	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	PMID:25741868
1306229	Setbp1	SET binding protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	PMID:25741868|PMID:28492532|PMID:39342494
1306229	Setbp1	SET binding protein 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
1306229	Setbp1	SET binding protein 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1314725	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1306229	Setbp1	SET binding protein 1	gene	DOID:2300	spondylolysis		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylolysis	PMID:28492532
1306229	Setbp1	SET binding protein 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1314725	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1306229	Setbp1	SET binding protein 1	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
1306229	Setbp1	SET binding protein 1	gene	DOID:3307	teratoma		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teratoma	PMID:25741868
1306229	Setbp1	SET binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314725	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:18414213|PMID:21037274|PMID:26467025|PMID:28492532
1306229	Setbp1	SET binding protein 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:21037274|PMID:25217958|PMID:28492532|PMID:33867525|PMID:33907317
1306229	Setbp1	SET binding protein 1	gene	DOID:543	dystonia		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1306229	Setbp1	SET binding protein 1	gene	DOID:552	pneumonia		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:21037274|PMID:25217958|PMID:25741868|PMID:26350204|PMID:28492532
1306229	Setbp1	SET binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306229	Setbp1	SET binding protein 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1314725	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:16199547|PMID:21037274|PMID:25217958|PMID:25741868|PMID:28492532
1306229	Setbp1	SET binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306229	Setbp1	SET binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306229	Setbp1	SET binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
1306229	Setbp1	SET binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157|PMID:33867525|PMID:33907317|PMID:35322241|PMID:40665309|PMID:41282480
1306229	Setbp1	SET binding protein 1	gene	DOID:8692	myeloid leukemia		ISO	RGD:1314725	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23832012
1306229	Setbp1	SET binding protein 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:21037274|PMID:25217958|PMID:28492532
1306229	Setbp1	SET binding protein 1	gene	DOID:9001581	Constipation		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
1306229	Setbp1	SET binding protein 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532
1306229	Setbp1	SET binding protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314725	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1306229	Setbp1	SET binding protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314725	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1306229	Setbp1	SET binding protein 1	gene	DOID:9004657	Weight Gain		ISO	RGD:1314725	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1306229	Setbp1	SET binding protein 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1306229	Setbp1	SET binding protein 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1314725	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25217958
1306229	Setbp1	SET binding protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
1306229	Setbp1	SET binding protein 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314725	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:21037274|PMID:25217958|PMID:25741868|PMID:28492532|PMID:32345733
1306229	Setbp1	SET binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314725	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:18414213|PMID:21037274|PMID:26467025|PMID:28492532
1306229	Setbp1	SET binding protein 1	gene	DOID:9007152	Talipes		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes	PMID:25741868
1306229	Setbp1	SET binding protein 1	gene	DOID:9007356	Eczema		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	
1306229	Setbp1	SET binding protein 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
1306229	Setbp1	SET binding protein 1	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1314725	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20436468
1306229	Setbp1	SET binding protein 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1306229	Setbp1	SET binding protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:21037274|PMID:25217958|PMID:25741868|PMID:28492532
1306229	Setbp1	SET binding protein 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868|PMID:28492532
1306229	Setbp1	SET binding protein 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1314725	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20436468
1306229	Setbp1	SET binding protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1314725	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25751625
1306229	Setbp1	SET binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306229	Setbp1	SET binding protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314725	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:18414213|PMID:21037274|PMID:26467025|PMID:28492532
1306230	Henmt1	HEN methyltransferase 1	gene	DOID:14227	azoospermia		ISO	RGD:1602307	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Azoospermia	
1306230	Henmt1	HEN methyltransferase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306230	Henmt1	HEN methyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306230	Henmt1	HEN methyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306230	Henmt1	HEN methyltransferase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1602307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306231	Rwdd2a	RWD domain containing 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306231	Rwdd2a	RWD domain containing 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306233	Pierce1	piercer of microtubule wall 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306233	Pierce1	piercer of microtubule wall 1	gene	DOID:1115	sarcoma		ISO	RGD:1353369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306233	Pierce1	piercer of microtubule wall 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1314733	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Lynch syndrome II	PMID:21785361
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1314733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1314733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1314733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:3275	thymoma		ISO	RGD:1314733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314733	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306234	Lrrfip2	LRR binding FLII interacting protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306235	Vstm2b	V-set and transmembrane domain containing 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1626689	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306235	Vstm2b	V-set and transmembrane domain containing 2B	gene	DOID:1115	sarcoma		ISO	RGD:1626689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306235	Vstm2b	V-set and transmembrane domain containing 2B	gene	DOID:1324	lung cancer		ISO	RGD:1626689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306235	Vstm2b	V-set and transmembrane domain containing 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1626689	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306235	Vstm2b	V-set and transmembrane domain containing 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1626689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306236	Scrt1	scratch family transcriptional repressor 1	gene	DOID:1115	sarcoma		ISO	RGD:1314736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306238	Angel1	angel homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306238	Angel1	angel homolog 1	gene	DOID:1324	lung cancer		ISO	RGD:1314740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306238	Angel1	angel homolog 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306238	Angel1	angel homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306238	Angel1	angel homolog 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306239	Zfp523	zinc finger protein 523	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306239	Zfp523	zinc finger protein 523	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306239	Zfp523	zinc finger protein 523	gene	DOID:1324	lung cancer		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306239	Zfp523	zinc finger protein 523	gene	DOID:3070	high grade glioma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306239	Zfp523	zinc finger protein 523	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306239	Zfp523	zinc finger protein 523	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306239	Zfp523	zinc finger protein 523	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306239	Zfp523	zinc finger protein 523	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306239	Zfp523	zinc finger protein 523	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306240	Mrpl14	mitochondrial ribosomal protein L14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306240	Mrpl14	mitochondrial ribosomal protein L14	gene	DOID:10534	stomach cancer		ISO	RGD:1314744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306240	Mrpl14	mitochondrial ribosomal protein L14	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306240	Mrpl14	mitochondrial ribosomal protein L14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306240	Mrpl14	mitochondrial ribosomal protein L14	gene	DOID:6039	uveal melanoma		ISO	RGD:1314744	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306240	Mrpl14	mitochondrial ribosomal protein L14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306241	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306241	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306241	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306241	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306241	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306241	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306241	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306241	Dcaf4	DDB1 and CUL4 associated factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306242	Htra4	HtrA serine peptidase 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1350689	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1306242	Htra4	HtrA serine peptidase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306242	Htra4	HtrA serine peptidase 4	gene	DOID:1324	lung cancer		ISO	RGD:1350689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306242	Htra4	HtrA serine peptidase 4	gene	DOID:1909	melanoma		ISO	RGD:1350689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306242	Htra4	HtrA serine peptidase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306242	Htra4	HtrA serine peptidase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306243	Parp16	poly (ADP-ribose) polymerase family, member 16	gene	DOID:1324	lung cancer		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306243	Parp16	poly (ADP-ribose) polymerase family, member 16	gene	DOID:4362	cervical cancer		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306243	Parp16	poly (ADP-ribose) polymerase family, member 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306243	Parp16	poly (ADP-ribose) polymerase family, member 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306243	Parp16	poly (ADP-ribose) polymerase family, member 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306244	Rassf7	Ras association domain family member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306244	Rassf7	Ras association domain family member 7	gene	DOID:10534	stomach cancer		ISO	RGD:1314751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306244	Rassf7	Ras association domain family member 7	gene	DOID:1324	lung cancer		ISO	RGD:1314751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306244	Rassf7	Ras association domain family member 7	gene	DOID:4362	cervical cancer		ISO	RGD:1314751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306244	Rassf7	Ras association domain family member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306244	Rassf7	Ras association domain family member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306246	Acss1	acyl-CoA synthetase short-chain family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306246	Acss1	acyl-CoA synthetase short-chain family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306246	Acss1	acyl-CoA synthetase short-chain family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1314754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306246	Acss1	acyl-CoA synthetase short-chain family member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306246	Acss1	acyl-CoA synthetase short-chain family member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306246	Acss1	acyl-CoA synthetase short-chain family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306246	Acss1	acyl-CoA synthetase short-chain family member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306246	Acss1	acyl-CoA synthetase short-chain family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306246	Acss1	acyl-CoA synthetase short-chain family member 1	gene	DOID:9002395	Hypothermia		ISO	RGD:1615097	D	RGD:13831305|PMID:19187775	20181221	RGD			
1306246	Acss1	acyl-CoA synthetase short-chain family member 1	gene	DOID:9004118	Experimental Melanoma	treatment	ISO	RGD:1314754	D	RGD:13831304|PMID:27539851	20181221	RGD			
1306246	Acss1	acyl-CoA synthetase short-chain family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306246	Acss1	acyl-CoA synthetase short-chain family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306246	Acss1	acyl-CoA synthetase short-chain family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306247	Tln1	talin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306247	Tln1	talin 1	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cobalamin deficiency	PMID:25741868
1306247	Tln1	talin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306247	Tln1	talin 1	gene	DOID:0060058	lymphoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306247	Tln1	talin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306247	Tln1	talin 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
1306247	Tln1	talin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306247	Tln1	talin 1	gene	DOID:1115	sarcoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306247	Tln1	talin 1	gene	DOID:11476	osteoporosis		ISO	RGD:1314756	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
1306247	Tln1	talin 1	gene	DOID:1324	lung cancer		ISO	RGD:1314756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306247	Tln1	talin 1	gene	DOID:13382	megaloblastic anemia		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia	PMID:25741868
1306247	Tln1	talin 1	gene	DOID:14400	capillary leak syndrome		ISO	RGD:1314756	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Capillary leak syndrome	PMID:25741868
1306247	Tln1	talin 1	gene	DOID:1909	melanoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306247	Tln1	talin 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
1306247	Tln1	talin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306247	Tln1	talin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1314756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306247	Tln1	talin 1	gene	DOID:3275	thymoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306247	Tln1	talin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306247	Tln1	talin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306247	Tln1	talin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306247	Tln1	talin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314756	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306247	Tln1	talin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306247	Tln1	talin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306247	Tln1	talin 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306247	Tln1	talin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306247	Tln1	talin 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306247	Tln1	talin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306247	Tln1	talin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306247	Tln1	talin 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1314756	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21291860
1306247	Tln1	talin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306247	Tln1	talin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306247	Tln1	talin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:0060256	Dowling-Degos disease		ISO	RGD:1604326	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z		ISO	RGD:1604326	D	RGD:7240710	20190315	OMIM			
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z		ISO	RGD:1604326	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Z | ClinVar Annotator: match by term: POGLUT1-related condition	PMID:25741868|PMID:28492532
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:11830	myopia		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1604326	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:9003079	Dowling-Degos Disease 4		ISO	RGD:1604326	D	RGD:7240710	20140911	OMIM			
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:9003079	Dowling-Degos Disease 4		ISO	RGD:1604326	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DOWLING-DEGOS DISEASE 4 | ClinVar Annotator: match by term: Dowling-Degos disease 4	PMID:24387993|PMID:25741868|PMID:27479915|PMID:28492532|PMID:30414910
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:28492532
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306248	Poglut1	protein O-glucosyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306249	Krt33a	keratin 33A	gene	DOID:10283	prostate cancer		ISO	RGD:1314759	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1306249	Krt33a	keratin 33A	gene	DOID:10283	prostate cancer		ISO	RGD:1314759	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1306249	Krt33a	keratin 33A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306249	Krt33a	keratin 33A	gene	DOID:1115	sarcoma		ISO	RGD:1314759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050573	2-hydroxyglutaric aciduria		ISO	RGD:1314761	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15385440|PMID:15548604|PMID:21937992
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050573	2-hydroxyglutaric aciduria		ISO	RGD:1314761	D	RGD:13506814|PMID:26208971	20180220	RGD		DNA:mutations:exons:c.169G>A,c.542G>T(human)	
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050573	2-hydroxyglutaric aciduria		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 2-hydroxyglutaric aciduria	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050573	2-hydroxyglutaric aciduria		ISO	RGD:1550752	D	RGD:13506815|PMID:25763823	20180220	RGD			
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050574	L-2-hydroxyglutaric aciduria		ISO	RGD:1314761	D	RGD:13506818|PMID:24894778	20180220	RGD		DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human)	
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050574	L-2-hydroxyglutaric aciduria		ISO	RGD:1314761	D	RGD:13506824|PMID:24573090	20180220	RGD		DNA:mutation:cds:c.241A4G(p.K81E)(human)	
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050574	L-2-hydroxyglutaric aciduria		ISO	RGD:1314761	D	RGD:7240710	20180307	OMIM			
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050574	L-2-hydroxyglutaric aciduria		ISO	RGD:1314761	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: L-2-HYDROXYGLUTARIC ACIDURIA | ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related condition	PMID:15385440|PMID:15548604|PMID:16134148|PMID:16199547|PMID:17576681|PMID:17981416|PMID:18362286|PMID:18414213|PMID:18415700|PMID:18780161|PMID:19863265|PMID:19911013|PMID:20052767|PMID:21937992|PMID:22030381|PMID:24573090|PMID:25033591|PMID:25741868|PMID:26467025|PMID:26829733|PMID:28492532|PMID:29302074|PMID:29458334|PMID:30217188|PMID:31942424|PMID:32626804|PMID:33061758|PMID:33083013|PMID:34330727|PMID:35456504|PMID:37378753|PMID:38301078|PMID:38464914|PMID:40870031|PMID:8415700|PMID:9536098
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050574	L-2-hydroxyglutaric aciduria		ISS	RGD:1550752	D	RGD:13592920	20230718	MouseDO		OMIM:236792	
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1314761	D	RGD:13506824|PMID:24573090	20180220	RGD		DNA:mutation:cds:c.241A4G(p.K81E)(human)	
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:1059	intellectual disability		ISO	RGD:1314761	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:1826	epilepsy		ISO	RGD:1314761	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15385440
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:1826	epilepsy		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16134148|PMID:20052767|PMID:25741868|PMID:28492532
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1314761	D	RGD:13506824|PMID:24573090	20180220	RGD		DNA:mutation:cds:c.241A4G(p.K81E)(human)	
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:543	dystonia		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16134148|PMID:20052767|PMID:25741868|PMID:28492532
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:9000053	Headache		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:16134148|PMID:16199547|PMID:20052767|PMID:25741868|PMID:28492532|PMID:32626804
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:16134148|PMID:20052767|PMID:25741868|PMID:28492532
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:9004866	Ataxia		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb ataxia	PMID:16134148|PMID:16199547|PMID:20052767|PMID:25741868|PMID:28492532|PMID:32626804
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:16134148|PMID:16199547|PMID:20052767|PMID:25741868|PMID:28492532|PMID:32626804
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314761	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15385440
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306250	L2hgdh	L-2-hydroxyglutarate dehydrogenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314765	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar Annotator: match by term: lamellar ichthyosis	PMID:11773004|PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29130490|PMID:29935003|PMID:31168818|PMID:35734965
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060656	autosomal recessive congenital ichthyosis 1		ISO	RGD:1314765	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21739938
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060656	autosomal recessive congenital ichthyosis 1	susceptibility	ISO	RGD:1314765	D	RGD:1599073|PMID:11773004	20070115	RGD			
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060710	autosomal recessive congenital ichthyosis 2		ISO	RGD:1314765	D	RGD:11554173	20190319	CTD		CTD Direct Evidence: marker/mechanism	
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060710	autosomal recessive congenital ichthyosis 2		ISO	RGD:1314765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosiform Erythroderma, Congenital, Nonbullous, 1	PMID:25741868|PMID:26762237|PMID:28492532|PMID:30578701|PMID:31168818|PMID:33435499
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060711	autosomal recessive congenital ichthyosis 3		ISO	RGD:1314765	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060711	autosomal recessive congenital ichthyosis 3		ISO	RGD:1314765	D	RGD:7240710	20130731	OMIM			
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:0060711	autosomal recessive congenital ichthyosis 3		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ALOXE3-related condition | ClinVar Annotator: match by term: ARCI3 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: ICHTHYOSIS, LAMELLAR, 5	PMID:11773004|PMID:16116617|PMID:16199547|PMID:17576681|PMID:19131948|PMID:19890349|PMID:21668430|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26274329|PMID:26370990|PMID:26578203|PMID:26762237|PMID:27025581|PMID:28492532|PMID:30270455|PMID:32978145|PMID:33435499|PMID:33786896|PMID:9536098
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:11155	hypohidrosis		ISO	RGD:1314765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:1324	lung cancer		ISO	RGD:1314765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:3144	cutis laxa		ISO	RGD:1314765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:630	genetic disease		ISO	RGD:1314765	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34851365
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9002189	High Myopia		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314765	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22919386
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9006202	Pruritus		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pruritus	PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9006290	Central Nervous System Venous Angioma		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebral venous angioma	PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532
1306252	Aloxe3	arachidonate epidermal lipoxygenase 3	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1314765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:25741868|PMID:25998749|PMID:26370990|PMID:26762237|PMID:27025581|PMID:28492532
1306254	Ap2a1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306254	Ap2a1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306254	Ap2a1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306254	Ap2a1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306254	Ap2a1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:1115	sarcoma		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306254	Ap2a1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:1324	lung cancer		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306254	Ap2a1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:1909	melanoma		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306254	Ap2a1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:3275	thymoma		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306254	Ap2a1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306254	Ap2a1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306254	Ap2a1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306254	Ap2a1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306254	Ap2a1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306255	Sass6	SAS-6 centriolar assembly protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306255	Sass6	SAS-6 centriolar assembly protein	gene	DOID:0060058	lymphoma		ISO	RGD:1603551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306255	Sass6	SAS-6 centriolar assembly protein	gene	DOID:0070279	primary autosomal recessive microcephaly 14		ISO	RGD:1603551	D	RGD:7240710	20170405	OMIM			
1306255	Sass6	SAS-6 centriolar assembly protein	gene	DOID:0070279	primary autosomal recessive microcephaly 14		ISO	RGD:1603551	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 14, primary, autosomal recessive | ClinVar Annotator: match by term: SASS6-related condition	PMID:25741868|PMID:30639237
1306255	Sass6	SAS-6 centriolar assembly protein	gene	DOID:10907	microcephaly		ISO	RGD:1603551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1306255	Sass6	SAS-6 centriolar assembly protein	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1603551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:21273447
1306255	Sass6	SAS-6 centriolar assembly protein	gene	DOID:1909	melanoma		ISO	RGD:1603551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306255	Sass6	SAS-6 centriolar assembly protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306255	Sass6	SAS-6 centriolar assembly protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1603551	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306255	Sass6	SAS-6 centriolar assembly protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306255	Sass6	SAS-6 centriolar assembly protein	gene	DOID:630	genetic disease		ISO	RGD:1603551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306257	Zfp629	zinc finger protein 629	gene	DOID:3275	thymoma		ISO	RGD:1314773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306257	Zfp629	zinc finger protein 629	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306257	Zfp629	zinc finger protein 629	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306257	Zfp629	zinc finger protein 629	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306258	Clca1	chloride channel accessory 1	gene	DOID:10320	asbestosis		ISO	RGD:1314776	D	RGD:4145655|PMID:17637221	20101111	RGD		mRNA, protein:increased expression:lung	
1306258	Clca1	chloride channel accessory 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306258	Clca1	chloride channel accessory 1	gene	DOID:1485	cystic fibrosis		ISO	RGD:1314775	D	RGD:4145657|PMID:15218996	20101111	RGD		mRNA, protein:increased expression:respiratory system mucosa	
1306258	Clca1	chloride channel accessory 1	gene	DOID:2841	asthma		ISO	RGD:1314775	D	RGD:4145653|PMID:17898169	20101111	RGD			
1306258	Clca1	chloride channel accessory 1	gene	DOID:2841	asthma		ISO	RGD:1314776	D	RGD:4145661|PMID:11296262	20101111	RGD			
1306258	Clca1	chloride channel accessory 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1314775	D	RGD:4145656|PMID:15318163	20101111	RGD		DNA:SNPs (human)	
1306258	Clca1	chloride channel accessory 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1314775	D	RGD:1331524|PMID:14985398	20101111	RGD		DNA:SNPs: :multiple (human)	
1306258	Clca1	chloride channel accessory 1	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1314775	D	RGD:4145655|PMID:17637221	20101111	RGD		mRNA:increased expression:bronchus	
1306258	Clca1	chloride channel accessory 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306259	Nav3	neuron navigator 3	gene	DOID:0050847	sleep apnea		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
1306259	Nav3	neuron navigator 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306259	Nav3	neuron navigator 3	gene	DOID:10534	stomach cancer		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306259	Nav3	neuron navigator 3	gene	DOID:1059	intellectual disability		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
1306259	Nav3	neuron navigator 3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1306259	Nav3	neuron navigator 3	gene	DOID:1115	sarcoma		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306259	Nav3	neuron navigator 3	gene	DOID:12849	autistic disorder		ISO	RGD:1314915	D	RGD:11554173	20221101	CTD		CTD Direct Evidence: marker/mechanism	PMID:35982159
1306259	Nav3	neuron navigator 3	gene	DOID:1324	lung cancer		ISO	RGD:1314915	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306259	Nav3	neuron navigator 3	gene	DOID:1826	epilepsy		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1306259	Nav3	neuron navigator 3	gene	DOID:1909	melanoma		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306259	Nav3	neuron navigator 3	gene	DOID:2340	craniosynostosis		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868
1306259	Nav3	neuron navigator 3	gene	DOID:2559	opiate dependence		ISO	RGD:1314915	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1306259	Nav3	neuron navigator 3	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:1314915	D	RGD:401851917|PMID:18438686	20231031	RGD		DNA:SNP:: (rs770124) (human)	
1306259	Nav3	neuron navigator 3	gene	DOID:3275	thymoma		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306259	Nav3	neuron navigator 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306259	Nav3	neuron navigator 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306259	Nav3	neuron navigator 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306259	Nav3	neuron navigator 3	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1314915	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
1306259	Nav3	neuron navigator 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306259	Nav3	neuron navigator 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314915	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306259	Nav3	neuron navigator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306259	Nav3	neuron navigator 3	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1314915	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
1306259	Nav3	neuron navigator 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1306259	Nav3	neuron navigator 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306259	Nav3	neuron navigator 3	gene	DOID:9009360	Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities		ISO	RGD:1314915	D	RGD:7240710	20250730	OMIM			
1306259	Nav3	neuron navigator 3	gene	DOID:9009360	Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities		ISO	RGD:1314915	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH POOR OR ABSENT SPEECH, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities	PMID:25741868
1306259	Nav3	neuron navigator 3	gene	DOID:9970	obesity		ISO	RGD:1314915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1306260	Zfand2b	zinc finger AN1-type containing 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306260	Zfand2b	zinc finger AN1-type containing 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306260	Zfand2b	zinc finger AN1-type containing 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306260	Zfand2b	zinc finger AN1-type containing 2B	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1602437	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1306260	Zfand2b	zinc finger AN1-type containing 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306260	Zfand2b	zinc finger AN1-type containing 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306260	Zfand2b	zinc finger AN1-type containing 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306260	Zfand2b	zinc finger AN1-type containing 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306261	Pkd2l1	polycystin 2 like 1, transient receptor potential cation channel	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306261	Pkd2l1	polycystin 2 like 1, transient receptor potential cation channel	gene	DOID:10283	prostate cancer		ISO	RGD:1314779	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1306261	Pkd2l1	polycystin 2 like 1, transient receptor potential cation channel	gene	DOID:10283	prostate cancer		ISO	RGD:1314779	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1306261	Pkd2l1	polycystin 2 like 1, transient receptor potential cation channel	gene	DOID:1324	lung cancer		ISO	RGD:1314779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306261	Pkd2l1	polycystin 2 like 1, transient receptor potential cation channel	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306262	Btbd7	BTB domain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345329	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306262	Btbd7	BTB domain containing 7	gene	DOID:10534	stomach cancer		ISO	RGD:1345329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306262	Btbd7	BTB domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1345329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306262	Btbd7	BTB domain containing 7	gene	DOID:1324	lung cancer		ISO	RGD:1345329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306262	Btbd7	BTB domain containing 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306262	Btbd7	BTB domain containing 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1345329	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306262	Btbd7	BTB domain containing 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306262	Btbd7	BTB domain containing 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306263	Slamf8	SLAM family member 8	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1314782	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28067908
1306263	Slamf8	SLAM family member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306263	Slamf8	SLAM family member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306263	Slamf8	SLAM family member 8	gene	DOID:1324	lung cancer		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306263	Slamf8	SLAM family member 8	gene	DOID:3275	thymoma		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306263	Slamf8	SLAM family member 8	gene	DOID:4362	cervical cancer		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306263	Slamf8	SLAM family member 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306263	Slamf8	SLAM family member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306263	Slamf8	SLAM family member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314788	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1314788	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:0080600	COVID-19		ISO	RGD:1314788	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:10534	stomach cancer		ISO	RGD:1314788	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314788	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121792
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:1115	sarcoma		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:1324	lung cancer		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:1612	breast cancer		ISS	RGD:1550440	D	RGD:13592920	20240425	MouseDO		OMIM:114480	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:1909	melanoma		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1314788	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121792
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:3275	thymoma		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:4362	cervical cancer		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314788	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1314788	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306266	Espl1	extra spindle pole bodies like 1, separase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1306267	Ppcdc	phosphopantothenoylcysteine decarboxylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306267	Ppcdc	phosphopantothenoylcysteine decarboxylase	gene	DOID:1115	sarcoma		ISO	RGD:1605355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306267	Ppcdc	phosphopantothenoylcysteine decarboxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306267	Ppcdc	phosphopantothenoylcysteine decarboxylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306267	Ppcdc	phosphopantothenoylcysteine decarboxylase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306268	Rasl12	RAS-like, family 12	gene	DOID:1324	lung cancer		ISO	RGD:1314790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306268	Rasl12	RAS-like, family 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:1324	lung cancer		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:1909	melanoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:9002189	High Myopia		ISO	RGD:1314792	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306269	Sipa1l2	signal-induced proliferation-associated 1 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:0112143	retinitis pigmentosa 86		ISO	RGD:2292705	D	RGD:7240710	20191030	OMIM			
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:0112143	retinitis pigmentosa 86		ISO	RGD:2292705	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: KIAA1549-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 86 | ClinVar Annotator: match by term: Retinitis pigmentosa 86	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30120214|PMID:9536098
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:1909	melanoma		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:3069	malignant astrocytoma		ISO	RGD:2292705	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23817572
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:3070	high grade glioma		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:2292705	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:5723	optic atrophy		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:630	genetic disease		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:8501	fundus dystrophy		ISO	RGD:2292705	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306271	Kiaa1549	KIAA1549 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2292705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306273	Fer	FER tyrosine kinase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1306273	Fer	FER tyrosine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306273	Fer	FER tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306273	Fer	FER tyrosine kinase	gene	DOID:0060320	inguinal hernia		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
1306273	Fer	FER tyrosine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306273	Fer	FER tyrosine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306273	Fer	FER tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306273	Fer	FER tyrosine kinase	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1314798	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:25741868
1306273	Fer	FER tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306273	Fer	FER tyrosine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306273	Fer	FER tyrosine kinase	gene	DOID:3275	thymoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306273	Fer	FER tyrosine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306273	Fer	FER tyrosine kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306273	Fer	FER tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314798	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306273	Fer	FER tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306273	Fer	FER tyrosine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306273	Fer	FER tyrosine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306273	Fer	FER tyrosine kinase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306273	Fer	FER tyrosine kinase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306273	Fer	FER tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306273	Fer	FER tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306273	Fer	FER tyrosine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306274	Lmf2	lipase maturation factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306274	Lmf2	lipase maturation factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306274	Lmf2	lipase maturation factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1606481	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306274	Lmf2	lipase maturation factor 2	gene	DOID:1909	melanoma		ISO	RGD:1606481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306274	Lmf2	lipase maturation factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306274	Lmf2	lipase maturation factor 2	gene	DOID:3275	thymoma		ISO	RGD:1606481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306274	Lmf2	lipase maturation factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306274	Lmf2	lipase maturation factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306274	Lmf2	lipase maturation factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306274	Lmf2	lipase maturation factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606481	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306274	Lmf2	lipase maturation factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306274	Lmf2	lipase maturation factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606481	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306274	Lmf2	lipase maturation factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306275	Sh3bp1	SH3-domain binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306275	Sh3bp1	SH3-domain binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1314801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306275	Sh3bp1	SH3-domain binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1314801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306275	Sh3bp1	SH3-domain binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314801	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306275	Sh3bp1	SH3-domain binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306276	Nedd9	neural precursor cell expressed, developmentally down-regulated 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306276	Nedd9	neural precursor cell expressed, developmentally down-regulated 9	gene	DOID:1909	melanoma		ISO	RGD:1314803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306276	Nedd9	neural precursor cell expressed, developmentally down-regulated 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306276	Nedd9	neural precursor cell expressed, developmentally down-regulated 9	gene	DOID:2377	multiple sclerosis		ISO	RGD:1314803	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
1306276	Nedd9	neural precursor cell expressed, developmentally down-regulated 9	gene	DOID:4362	cervical cancer		ISO	RGD:1314803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306276	Nedd9	neural precursor cell expressed, developmentally down-regulated 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306276	Nedd9	neural precursor cell expressed, developmentally down-regulated 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306276	Nedd9	neural precursor cell expressed, developmentally down-regulated 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306276	Nedd9	neural precursor cell expressed, developmentally down-regulated 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:0050127	sinusitis		ISO	RGD:1605540	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sinusitis	PMID:16199547|PMID:21131972|PMID:22693285|PMID:22693295|PMID:23255504|PMID:25741868|PMID:28492532|PMID:31772028|PMID:32253119
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:0050144	Kartagener syndrome		ISS	RGD:1332183	D	RGD:13592920	20180518	MouseDO			
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1332183	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1605540	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:0110598	primary ciliary dyskinesia 14		ISO	RGD:1605540	D	RGD:7240710	20140911	OMIM			
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:0110598	primary ciliary dyskinesia 14		ISO	RGD:1605540	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CCDC39-related condition | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 14 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 14, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 14	PMID:16199547|PMID:17576681|PMID:21131972|PMID:22499950|PMID:22693285|PMID:22693295|PMID:23255504|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31469207|PMID:31772028|PMID:32253119|PMID:33057194|PMID:33935161|PMID:33942430|PMID:34674941|PMID:34768622|PMID:35982159|PMID:9536098
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:0110598	primary ciliary dyskinesia 14		ISS	RGD:1332183	D	RGD:13592920	20230718	MouseDO		OMIM:613807	
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1605540	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:16199547|PMID:21131972|PMID:23255504|PMID:25741868|PMID:28492532|PMID:30067075
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:10908	hydrocephalus		IMP		D	RGD:150521527|PMID:31771992	20211109	RGD			
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:10908	hydrocephalus		ISS	RGD:1332183	D	RGD:13592920	20180518	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1605540	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:16199547|PMID:21131972|PMID:22693285|PMID:22693295|PMID:23255504|PMID:25741868|PMID:28492532|PMID:31772028|PMID:32253119
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:1324	lung cancer		ISO	RGD:1605540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1605540	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:21131972|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34768622
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:3310	atopic dermatitis		ISO	RGD:1605540	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:21131972|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34768622
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:5223	infertility		ISO	RGD:1605540	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Infertility	PMID:16199547|PMID:21131972|PMID:22693285|PMID:22693295|PMID:23255504|PMID:25741868|PMID:28492532|PMID:31772028|PMID:32253119
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1605540	D	RGD:8554872	20250204	ClinVar		ClinVar Annotator: match by term: Situs inversus totalis	PMID:21131972|PMID:23255504|PMID:25741868|PMID:28492532
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:8577	ulcerative colitis		ISO	RGD:1605540	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ulcerative colitis	PMID:21131972|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34768622
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:9000590	Dyspnea		ISO	RGD:1605540	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:16199547|PMID:21131972|PMID:22693285|PMID:22693295|PMID:23255504|PMID:25741868|PMID:28492532|PMID:31772028|PMID:32253119
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:9007073	Cough		ISO	RGD:1605540	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cough	PMID:16199547|PMID:21131972|PMID:22693285|PMID:22693295|PMID:23255504|PMID:25741868|PMID:28492532|PMID:31772028|PMID:32253119
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:9007105	Hyperemesis Gravidarum		ISO	RGD:1605540	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hyperemesis gravidarum	PMID:16199547|PMID:21131972|PMID:22693285|PMID:22693295|PMID:23255504|PMID:25741868|PMID:28492532|PMID:31772028|PMID:32253119
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:9009131	Ventriculomegaly		IMP		D	RGD:150521527|PMID:31771992	20211109	RGD			
1306277	Ccdc39	coiled-coil domain 39 molecular ruler complex subunit	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1605540	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary Ciliary Dyskinesia | ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21131972|PMID:22406018|PMID:22499950|PMID:22693285|PMID:22693295|PMID:23255504|PMID:23891469|PMID:24033266|PMID:25186273|PMID:25640679|PMID:25741868|PMID:27637300|PMID:28230599|PMID:28492532|PMID:29748307|PMID:30067075|PMID:31469207|PMID:31650533|PMID:31772028|PMID:32253119|PMID:33057194|PMID:33577779|PMID:34768622|PMID:35547246|PMID:35982159|PMID:9536098
1306278	Zfp282	zinc finger protein 282	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306278	Zfp282	zinc finger protein 282	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306278	Zfp282	zinc finger protein 282	gene	DOID:1115	sarcoma		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306278	Zfp282	zinc finger protein 282	gene	DOID:1909	melanoma		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306278	Zfp282	zinc finger protein 282	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306278	Zfp282	zinc finger protein 282	gene	DOID:3275	thymoma		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306278	Zfp282	zinc finger protein 282	gene	DOID:4362	cervical cancer		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306278	Zfp282	zinc finger protein 282	gene	DOID:5041	esophageal cancer		ISO	RGD:1314806	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306278	Zfp282	zinc finger protein 282	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306278	Zfp282	zinc finger protein 282	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306278	Zfp282	zinc finger protein 282	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306279	Abr	ABR activator of RhoGEF and GTPase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306279	Abr	ABR activator of RhoGEF and GTPase	gene	DOID:10534	stomach cancer		ISO	RGD:1314808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306279	Abr	ABR activator of RhoGEF and GTPase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306279	Abr	ABR activator of RhoGEF and GTPase	gene	DOID:1115	sarcoma		ISO	RGD:1314808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306279	Abr	ABR activator of RhoGEF and GTPase	gene	DOID:1324	lung cancer		ISO	RGD:1314808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306279	Abr	ABR activator of RhoGEF and GTPase	gene	DOID:4362	cervical cancer		ISO	RGD:1314808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306279	Abr	ABR activator of RhoGEF and GTPase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314808	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306279	Abr	ABR activator of RhoGEF and GTPase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306279	Abr	ABR activator of RhoGEF and GTPase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306279	Abr	ABR activator of RhoGEF and GTPase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306279	Abr	ABR activator of RhoGEF and GTPase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314808	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
1306279	Abr	ABR activator of RhoGEF and GTPase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306279	Abr	ABR activator of RhoGEF and GTPase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306280	Ppp1r8	protein phosphatase 1, regulatory subunit 8	gene	DOID:1324	lung cancer		ISO	RGD:1314810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306280	Ppp1r8	protein phosphatase 1, regulatory subunit 8	gene	DOID:1909	melanoma		ISO	RGD:1314810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306280	Ppp1r8	protein phosphatase 1, regulatory subunit 8	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306280	Ppp1r8	protein phosphatase 1, regulatory subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306281	Aamp	angio-associated, migratory cell protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306281	Aamp	angio-associated, migratory cell protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306281	Aamp	angio-associated, migratory cell protein	gene	DOID:1909	melanoma		ISO	RGD:1607091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306281	Aamp	angio-associated, migratory cell protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1607091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306281	Aamp	angio-associated, migratory cell protein	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1607091	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1306281	Aamp	angio-associated, migratory cell protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306281	Aamp	angio-associated, migratory cell protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1607091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306281	Aamp	angio-associated, migratory cell protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306283	Ndufa8	NADH:ubiquinone oxidoreductase subunit A8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306283	Ndufa8	NADH:ubiquinone oxidoreductase subunit A8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306283	Ndufa8	NADH:ubiquinone oxidoreductase subunit A8	gene	DOID:4362	cervical cancer		ISO	RGD:1314815	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306283	Ndufa8	NADH:ubiquinone oxidoreductase subunit A8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306283	Ndufa8	NADH:ubiquinone oxidoreductase subunit A8	gene	DOID:9000429	Nuclear Type Mitochondrial Complex I Deficiency 37		ISO	RGD:1314815	D	RGD:7240710	20210505	OMIM			
1306283	Ndufa8	NADH:ubiquinone oxidoreductase subunit A8	gene	DOID:9000429	Nuclear Type Mitochondrial Complex I Deficiency 37		ISO	RGD:1314815	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 37	PMID:25741868
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:0060249	scoliosis		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24501276|PMID:24626631|PMID:25741868|PMID:28492532
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:0060321	umbilical hernia		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:0081208	autosomal recessive intellectual developmental disorder 44		ISO	RGD:2298732	D	RGD:7240710	20170510	OMIM			
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:0081208	autosomal recessive intellectual developmental disorder 44		ISO	RGD:2298732	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 44 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 44	PMID:24501276|PMID:24626631|PMID:25741868|PMID:32067349
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:1059	intellectual disability		ISO	RGD:2298732	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24626631
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:1059	intellectual disability		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:11383	cryptorchidism		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:12849	autistic disorder		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:32067349
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:1686	glaucoma		ISS	RGD:1314817	D	RGD:13592920	20221215	MouseDO			
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:3275	thymoma		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:4362	cervical cancer		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:5041	esophageal cancer		ISO	RGD:2298732	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:630	genetic disease		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:9001276	Failure to Thrive		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:9001722	Dysarthria		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:9003279	Joint Dislocations		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	PMID:25741868
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:32067349
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:9005616	Micrognathism		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:9007661	Dwarfism		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:32067349
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:9220	central sleep apnea		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central sleep apnea syndrome	PMID:25741868
1306284	Mettl23	methyltransferase 23, arginine	gene	DOID:930	orbital disease		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:1909	melanoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:3275	thymoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314818	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314818	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306285	Vav2	vav guanine nucleotide exchange factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1347008	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222957
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0050840	cervical dystonia		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0051076	neurodevelopmental disorder with parkinsonism or other movement abnormalities		ISO	RGD:1347008	D	RGD:7240710	20260408	OMIM			
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0051076	neurodevelopmental disorder with parkinsonism or other movement abnormalities		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PARKINSONISM OR OTHER MOVEMENT ABNORMALITIES	PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0060356	Vici syndrome		ISO	RGD:1347008	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222957
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0060356	Vici syndrome		ISO	RGD:1347008	D	RGD:7240710	20141015	OMIM			
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0060356	Vici syndrome		ISO	RGD:1347008	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: EPG5-related condition | ClinVar Annotator: match by term: VICI SYNDROME | ClinVar Annotator: match by term: Vici syndrome	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23222957|PMID:23674064|PMID:24033266|PMID:25331754|PMID:25640679|PMID:25741868|PMID:26854214|PMID:26917586|PMID:27343256|PMID:27577878|PMID:28168853|PMID:28333917|PMID:28492532|PMID:28615637|PMID:28939701|PMID:29130391|PMID:29159459|PMID:29983806|PMID:31130284|PMID:31184778|PMID:31625567|PMID:31981491|PMID:32313153|PMID:32558422|PMID:33255631|PMID:33303739|PMID:33365035|PMID:34405433|PMID:34645488|PMID:40192014|PMID:9536098
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0080833	laryngomalacia		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:10534	stomach cancer		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1347008	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa, syndromic	
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:10584	retinitis pigmentosa		ISS	RGD:1314820	D	RGD:13592920	20200206	MouseDO			
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:10907	microcephaly		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:1324	lung cancer		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:1826	epilepsy		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:1891	optic nerve disease		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:1909	melanoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:2234	focal epilepsy		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:332	amyotrophic lateral sclerosis		ISS	RGD:1314820	D	RGD:13592920	20180518	MouseDO			
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1347008	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:540	strabismus		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1347008	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222957
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:630	genetic disease		ISO	RGD:1347008	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23222957|PMID:23674064|PMID:25741868|PMID:28492532|PMID:31625567
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9001031	Retrognathia		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9005660	Hypopigmentation		ISO	RGD:1347008	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222957
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9008189	Pyelectasis		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868|PMID:28492532
1306286	Epg5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:10534	stomach cancer		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:1115	sarcoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:1324	lung cancer		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:1909	melanoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:3275	thymoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:4362	cervical cancer		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1606690	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1606690	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:9007661	Dwarfism		ISO	RGD:1606690	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306287	Zfc3h1	zinc finger, C3H1-type containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306288	Klhl22	kelch-like family member 22	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306288	Klhl22	kelch-like family member 22	gene	DOID:1115	sarcoma		ISO	RGD:1602999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306288	Klhl22	kelch-like family member 22	gene	DOID:4362	cervical cancer		ISO	RGD:1602999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306288	Klhl22	kelch-like family member 22	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306288	Klhl22	kelch-like family member 22	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306288	Klhl22	kelch-like family member 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306289	Plpp4	phospholipid phosphatase 4	gene	DOID:1324	lung cancer		ISO	RGD:1351368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306289	Plpp4	phospholipid phosphatase 4	gene	DOID:1612	breast cancer		ISO	RGD:1351368	D	RGD:2314524|PMID:16818692	20091119	RGD		mRNA:increased expression:breast	
1306289	Plpp4	phospholipid phosphatase 4	gene	DOID:1909	melanoma		ISO	RGD:1351368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306289	Plpp4	phospholipid phosphatase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306290	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306290	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306290	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:0112005	immunodeficiency 70		ISO	RGD:1314824	D	RGD:7240710	20200812	OMIM			
1306290	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:0112005	immunodeficiency 70		ISO	RGD:1314824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 70 | ClinVar Annotator: match by term: Immunodeficiency 70	PMID:25741868|PMID:32499645
1306290	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306290	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1314824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306290	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:1909	melanoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306290	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306290	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306290	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306290	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306290	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306290	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314824	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208208
1306290	Ivns1abp	influenza virus NS1A binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306291	Slc39a2	solute carrier family 39 member 2	gene	DOID:1324	lung cancer		ISO	RGD:1314826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606039	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306292	Trdmt1	tRNA aspartic acid methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306294	Mlf2	myeloid leukemia factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306294	Mlf2	myeloid leukemia factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306294	Mlf2	myeloid leukemia factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1314832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306294	Mlf2	myeloid leukemia factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1314832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306294	Mlf2	myeloid leukemia factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306294	Mlf2	myeloid leukemia factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306294	Mlf2	myeloid leukemia factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306295	Clec3a	C-type lectin domain family 3, member A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306297	Pcdh20	protocadherin 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1314837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306297	Pcdh20	protocadherin 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1314839	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1314839	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:1115	sarcoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:1324	lung cancer		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:3275	thymoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314839	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306298	Fbh1	F-box DNA helicase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:0060058	lymphoma		ISO	RGD:1314841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:10534	stomach cancer		ISO	RGD:1314841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:1324	lung cancer		ISO	RGD:1314841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:2394	ovarian cancer		ISO	RGD:1314841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:3275	thymoma		ISO	RGD:1314841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:4362	cervical cancer		ISO	RGD:1314841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:5041	esophageal cancer		ISO	RGD:1314841	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306299	Ipp	intracisternal A particle-promoted polypeptide	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1314841	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
1306300	Eef1akmt2	EEF1A lysine methyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306300	Eef1akmt2	EEF1A lysine methyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306300	Eef1akmt2	EEF1A lysine methyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1604914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306300	Eef1akmt2	EEF1A lysine methyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306300	Eef1akmt2	EEF1A lysine methyltransferase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306301	Btbd10	BTB domain containing 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306301	Btbd10	BTB domain containing 10	gene	DOID:1115	sarcoma		ISO	RGD:1601947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306301	Btbd10	BTB domain containing 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1601947	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306301	Btbd10	BTB domain containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306302	Fam133b	family with sequence similarity 133, member B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306304	Tmem203	transmembrane protein 203	gene	DOID:1826	epilepsy		ISO	RGD:1605598	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Seizure	
1306305	Tjp1	tight junction protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306305	Tjp1	tight junction protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306305	Tjp1	tight junction protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314849	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1306305	Tjp1	tight junction protein 1	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	IEP		D	RGD:407424596|PMID:23277536	20240730	RGD			
1306305	Tjp1	tight junction protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306305	Tjp1	tight junction protein 1	gene	DOID:10825	essential hypertension		ISO	RGD:1314849	D	RGD:11554173	20221108	CTD		CTD Direct Evidence: marker/mechanism	PMID:34453990
1306305	Tjp1	tight junction protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306305	Tjp1	tight junction protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306305	Tjp1	tight junction protein 1	gene	DOID:13141	uveitis		IEP		D	RGD:2325139|PMID:18587491	20100520	RGD		protein:decreased expression, altered localization: corneal endothelium	
1306305	Tjp1	tight junction protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306305	Tjp1	tight junction protein 1	gene	DOID:13580	cholestasis		IEP		D	RGD:2325141|PMID:18197414	20100520	RGD		protein:increased expression:liver	
1306305	Tjp1	tight junction protein 1	gene	DOID:13976	peptic esophagitis		IEP		D	RGD:2325133|PMID:19653339	20100520	RGD			
1306305	Tjp1	tight junction protein 1	gene	DOID:1909	melanoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306305	Tjp1	tight junction protein 1	gene	DOID:2316	brain ischemia		IEP		D	RGD:2325131|PMID:19712057	20100520	RGD		protein:decreased expression:brain	
1306305	Tjp1	tight junction protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306305	Tjp1	tight junction protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306305	Tjp1	tight junction protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306305	Tjp1	tight junction protein 1	gene	DOID:4606	bile duct cancer		ISO	RGD:1314849	D	RGD:2325030|PMID:19184677	20100519	RGD		protein:decreased expression:bile duct	
1306305	Tjp1	tight junction protein 1	gene	DOID:4724	brain edema		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral edema	PMID:25741868
1306305	Tjp1	tight junction protein 1	gene	DOID:4948	gallbladder carcinoma		ISO	RGD:1314849	D	RGD:2325030|PMID:19184677	20100519	RGD		protein:decreased expression:gallbladder	
1306305	Tjp1	tight junction protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314849	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306305	Tjp1	tight junction protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306305	Tjp1	tight junction protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306305	Tjp1	tight junction protein 1	gene	DOID:8677	perinatal necrotizing enterocolitis		IEP		D	RGD:2317627|PMID:19390485	20100520	RGD		protein:increased expression:liver	
1306305	Tjp1	tight junction protein 1	gene	DOID:9000438	Subarachnoid Hemorrhage		IDA		D	RGD:2325137|PMID:18854840	20100520	RGD		protein:altered localization	
1306305	Tjp1	tight junction protein 1	gene	DOID:9000641	Pain		IEP		D	RGD:2325136|PMID:19319146	20100520	RGD		associated with Inflammation;protein:increased expression:brain	
1306305	Tjp1	tight junction protein 1	gene	DOID:9000998	Brain Injuries		IEP		D	RGD:2325128|PMID:19889224	20100520	RGD			
1306305	Tjp1	tight junction protein 1	gene	DOID:9002457	Experimental Arthritis		IEP		D	RGD:2325138|PMID:18848892	20100520	RGD			
1306305	Tjp1	tight junction protein 1	gene	DOID:9004009	Reperfusion Injury		IEP		D	RGD:2325127|PMID:19929946	20100520	RGD			
1306305	Tjp1	tight junction protein 1	gene	DOID:9004009	Reperfusion Injury		IEP		D	RGD:2325135|PMID:19374856	20100520	RGD		protein:decreased expression:brain, endothelial cell	
1306305	Tjp1	tight junction protein 1	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:2325150|PMID:16567508	20100520	RGD		protein:decreased expression:glomerulus	
1306305	Tjp1	tight junction protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306305	Tjp1	tight junction protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306305	Tjp1	tight junction protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306305	Tjp1	tight junction protein 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314850	D	RGD:2325150|PMID:16567508	20100520	RGD		protein:decreased expression:glomerulus	
1306305	Tjp1	tight junction protein 1	gene	DOID:936	brain disease		IEP		D	RGD:2325131|PMID:19712057	20100520	RGD		associate with Pancreatitis, Acute Necrotizing	
1306306	Atg12	autophagy related 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306306	Atg12	autophagy related 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306306	Atg12	autophagy related 12	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	IEP		D	RGD:407532640|PMID:34052187	20240910	RGD			
1306306	Atg12	autophagy related 12	gene	DOID:10534	stomach cancer		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306306	Atg12	autophagy related 12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306306	Atg12	autophagy related 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306306	Atg12	autophagy related 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306306	Atg12	autophagy related 12	gene	DOID:6039	uveal melanoma		ISO	RGD:1314851	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306306	Atg12	autophagy related 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306306	Atg12	autophagy related 12	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	
1306306	Atg12	autophagy related 12	gene	DOID:9000998	Brain Injuries		IEP		D	RGD:2301217|PMID:18059433	20081001	RGD		protein:altered localization:brain	
1306306	Atg12	autophagy related 12	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306306	Atg12	autophagy related 12	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1306306	Atg12	autophagy related 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:10584	retinitis pigmentosa		ISS	RGD:1314854	D	RGD:13592920	20220915	MouseDO			
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:10907	microcephaly		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:11162	respiratory failure		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:1389	polyneuropathy		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Motor polyneuropathy	PMID:25741868
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:1909	melanoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:630	genetic disease		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9000084	Childhood-Onset Neurodegeneration with Cerebellar Atrophy		ISO	RGD:1314853	D	RGD:7240710	20190501	OMIM			
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9000084	Childhood-Onset Neurodegeneration with Cerebellar Atrophy		ISO	RGD:1314853	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: AGTPBP1-related disorder | ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar atrophy	PMID:25741868|PMID:30420557|PMID:33624935
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1314853	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16952463
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314853	D	RGD:8554872	20190507	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9009220	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES		ISO	RGD:1314853	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	PMID:25741868|PMID:30420557
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306307	Agtpbp1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306308	Eif1	eukaryotic translation initiation factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1342567	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306308	Eif1	eukaryotic translation initiation factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306308	Eif1	eukaryotic translation initiation factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306308	Eif1	eukaryotic translation initiation factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342567	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306308	Eif1	eukaryotic translation initiation factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306308	Eif1	eukaryotic translation initiation factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306308	Eif1	eukaryotic translation initiation factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306310	Mbip	MAP3K12 binding inhibitory protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306310	Mbip	MAP3K12 binding inhibitory protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1314857	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306310	Mbip	MAP3K12 binding inhibitory protein 1	gene	DOID:1909	melanoma		ISO	RGD:1314857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306310	Mbip	MAP3K12 binding inhibitory protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306310	Mbip	MAP3K12 binding inhibitory protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306310	Mbip	MAP3K12 binding inhibitory protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1314859	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:25741868
1306311	Lamb1	laminin subunit beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314859	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:0070722	adult-onset leukoencephalopathy without lacunae		ISO	RGD:1314859	D	RGD:7240710	20260603	OMIM			
1306311	Lamb1	laminin subunit beta 1	gene	DOID:0070722	adult-onset leukoencephalopathy without lacunae		ISO	RGD:1314859	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITHOUT LACUNAE, ADULT-ONSET	PMID:25741868|PMID:28492532|PMID:34606115
1306311	Lamb1	laminin subunit beta 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
1306311	Lamb1	laminin subunit beta 1	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
1306311	Lamb1	laminin subunit beta 1	gene	DOID:0112230	leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus		ISO	RGD:1314859	D	RGD:7240710	20140911	OMIM			
1306311	Lamb1	laminin subunit beta 1	gene	DOID:0112230	leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LAMB1-related condition | ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VARIABLE CORTICAL BRAIN MALFORMATIONS AND/OR HYDROCEPHALUS | ClinVar Annotator: match by term: Lissencephaly 5	PMID:16199547|PMID:17576681|PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532|PMID:38838312|PMID:9536098
1306311	Lamb1	laminin subunit beta 1	gene	DOID:0112237	lissencephaly 1		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Classic lissencephaly	PMID:16199547|PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532|PMID:38838312
1306311	Lamb1	laminin subunit beta 1	gene	DOID:10579	leukodystrophy		ISO	RGD:1314859	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
1306311	Lamb1	laminin subunit beta 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314859	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: severe intellectual disability	PMID:25741868
1306311	Lamb1	laminin subunit beta 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1306311	Lamb1	laminin subunit beta 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:17576681|PMID:28492532|PMID:36939041|PMID:9536098
1306311	Lamb1	laminin subunit beta 1	gene	DOID:1115	sarcoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:12270	coloboma		ISO	RGD:1314859	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18809619
1306311	Lamb1	laminin subunit beta 1	gene	DOID:12849	autistic disorder		ISO	RGD:1314859	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15523497
1306311	Lamb1	laminin subunit beta 1	gene	DOID:12849	autistic disorder		ISO	RGD:1314859	D	RGD:1624317|PMID:15523497	20070508	RGD			
1306311	Lamb1	laminin subunit beta 1	gene	DOID:12849	autistic disorder		ISO	RGD:1314859	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:1324	lung cancer		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:1826	epilepsy		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1306311	Lamb1	laminin subunit beta 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1314859	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Multiple sclerosis	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:289	endometriosis		ISO	RGD:1314859	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
1306311	Lamb1	laminin subunit beta 1	gene	DOID:3070	high grade glioma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:3642	empty sella syndrome		ISO	RGD:1314859	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Empty sella syndrome	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1314859	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:28444932
1306311	Lamb1	laminin subunit beta 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314859	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:630	genetic disease		ISO	RGD:1314859	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306311	Lamb1	laminin subunit beta 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:1314859	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:19915572
1306311	Lamb1	laminin subunit beta 1	gene	DOID:8927	learning disability		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
1306311	Lamb1	laminin subunit beta 1	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868
1306311	Lamb1	laminin subunit beta 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532
1306311	Lamb1	laminin subunit beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1306311	Lamb1	laminin subunit beta 1	gene	DOID:9008500	Classical Lissencephalies and Subcortical Band Heterotopias		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Classic lissencephaly	PMID:16199547|PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532|PMID:38838312
1306311	Lamb1	laminin subunit beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306311	Lamb1	laminin subunit beta 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1306311	Lamb1	laminin subunit beta 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16199547|PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532|PMID:38838312
1306312	Wnt8a	Wnt family member 8A	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1314861	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22544366
1306312	Wnt8a	Wnt family member 8A	gene	DOID:0080143	congenital fibrosis of the extraocular muscles		ISO	RGD:1314861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles	PMID:25741868
1306312	Wnt8a	Wnt family member 8A	gene	DOID:10892	hypospadias		ISO	RGD:1314861	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1306312	Wnt8a	Wnt family member 8A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1314861	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1306313	Adh6	alcohol dehydrogenase 6 (class V)	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314863	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1306315	Rpl3l	ribosomal protein L3-like	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314865	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:32514796|PMID:32870709
1306315	Rpl3l	ribosomal protein L3-like	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1314865	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
1306315	Rpl3l	ribosomal protein L3-like	gene	DOID:0081160	dilated cardiomyopathy 2D		ISO	RGD:1314865	D	RGD:7240710	20210616	OMIM			
1306315	Rpl3l	ribosomal protein L3-like	gene	DOID:0081160	dilated cardiomyopathy 2D		ISO	RGD:1314865	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 2D | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2D	PMID:25741868|PMID:32514796|PMID:35323613|PMID:37308880
1306315	Rpl3l	ribosomal protein L3-like	gene	DOID:12215	oligohydramnios		ISO	RGD:1314865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
1306315	Rpl3l	ribosomal protein L3-like	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1314865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
1306315	Rpl3l	ribosomal protein L3-like	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
1306315	Rpl3l	ribosomal protein L3-like	gene	DOID:1324	lung cancer		ISO	RGD:1314865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306315	Rpl3l	ribosomal protein L3-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314865	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306315	Rpl3l	ribosomal protein L3-like	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1314865	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
1306315	Rpl3l	ribosomal protein L3-like	gene	DOID:9005883	Pleural Effusion		ISO	RGD:1314865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: pleural effusion	PMID:25741868
1306315	Rpl3l	ribosomal protein L3-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306315	Rpl3l	ribosomal protein L3-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306316	Jrk	Jrk helix-turn-helix protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306316	Jrk	Jrk helix-turn-helix protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306316	Jrk	Jrk helix-turn-helix protein	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:1314867	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11463517
1306316	Jrk	Jrk helix-turn-helix protein	gene	DOID:1827	generalized epilepsy		ISO	RGD:1314867	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11463517
1306316	Jrk	Jrk helix-turn-helix protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306316	Jrk	Jrk helix-turn-helix protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306316	Jrk	Jrk helix-turn-helix protein	gene	DOID:4890	juvenile myoclonic epilepsy		ISO	RGD:1314867	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11463517
1306316	Jrk	Jrk helix-turn-helix protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306316	Jrk	Jrk helix-turn-helix protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1314867	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306316	Jrk	Jrk helix-turn-helix protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306316	Jrk	Jrk helix-turn-helix protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306316	Jrk	Jrk helix-turn-helix protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306316	Jrk	Jrk helix-turn-helix protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306319	Tmed4	transmembrane p24 trafficking protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306319	Tmed4	transmembrane p24 trafficking protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306319	Tmed4	transmembrane p24 trafficking protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306320	Pelp1	proline, glutamate and leucine rich protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306320	Pelp1	proline, glutamate and leucine rich protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306320	Pelp1	proline, glutamate and leucine rich protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306320	Pelp1	proline, glutamate and leucine rich protein 1	gene	DOID:1909	melanoma		ISO	RGD:1604366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306320	Pelp1	proline, glutamate and leucine rich protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306320	Pelp1	proline, glutamate and leucine rich protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604366	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306320	Pelp1	proline, glutamate and leucine rich protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306320	Pelp1	proline, glutamate and leucine rich protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306320	Pelp1	proline, glutamate and leucine rich protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306320	Pelp1	proline, glutamate and leucine rich protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604366	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1306320	Pelp1	proline, glutamate and leucine rich protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306320	Pelp1	proline, glutamate and leucine rich protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1604366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:0060563	Char syndrome		ISO	RGD:1314875	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:0060563	Char syndrome		ISO	RGD:1314875	D	RGD:7240710	20130221	OMIM			
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:0060563	Char syndrome		ISO	RGD:1314875	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHAR SYNDROME | ClinVar Annotator: match by term: Char syndrome | ClinVar Annotator: match by term: TFAP2B-related condition	PMID:10802654|PMID:11505339|PMID:15684060|PMID:2010091|PMID:20301285|PMID:24507797|PMID:25741868|PMID:28492532|PMID:29555671|PMID:31012281|PMID:31292255
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:0060563	Char syndrome		ISS	RGD:1314876	D	RGD:13592920	20230718	MouseDO		OMIM:169100	
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1314875	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction	PMID:25741868
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:13550	angle-closure glaucoma		ISS	RGD:1314876	D	RGD:13592920	20180518	MouseDO			
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1314875	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10802654|PMID:19336370
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:13832	patent ductus arteriosus		ISS	RGD:1314876	D	RGD:13592920	20230718	MouseDO		OMIM:607411	
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:13832	patent ductus arteriosus	susceptibility	ISO	RGD:1314875	D	RGD:1601543|PMID:10802654	20070424	RGD		Char Syndrome, OMIM:169100;DNA:missense mutations:p.A264D, p.R289C	
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:630	genetic disease		ISO	RGD:1314875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15684060|PMID:28492532|PMID:31292255
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:9003133	Hypertelorism		ISO	RGD:1314875	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:10802654|PMID:11505339|PMID:2010091|PMID:25741868
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:9003602	Patent Ductus Arteriosus 2		ISO	RGD:1314875	D	RGD:7240710	20190315	OMIM			
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:9003602	Patent Ductus Arteriosus 2		ISO	RGD:1314875	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PATENT DUCTUS ARTERIOSUS 2 | ClinVar Annotator: match by term: Patent ductus arteriosus 2	
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:9004795	Congenital Hand Deformities		ISO	RGD:1314875	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10802654
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:9007633	Body Weight		ISO	RGD:1314875	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22344219
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1314875	D	RGD:1601544|PMID:16373417	20070424	RGD			
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1314875	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:31292255
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1314875	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10802654
1306321	Tfap2b	transcription factor AP-2 beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306322	Tshz3	teashirt zinc finger homeobox 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306322	Tshz3	teashirt zinc finger homeobox 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314877	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:27668656
1306322	Tshz3	teashirt zinc finger homeobox 3	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1314878	D	RGD:13592920	20230718	MouseDO			
1306322	Tshz3	teashirt zinc finger homeobox 3	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1314877	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract	PMID:25741868|PMID:39420202
1306322	Tshz3	teashirt zinc finger homeobox 3	gene	DOID:10283	prostate cancer		ISO	RGD:1314877	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1306322	Tshz3	teashirt zinc finger homeobox 3	gene	DOID:10283	prostate cancer		ISO	RGD:1314877	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1306322	Tshz3	teashirt zinc finger homeobox 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314877	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1306323	Osgin2	oxidative stress induced growth inhibitor family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306323	Osgin2	oxidative stress induced growth inhibitor family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306323	Osgin2	oxidative stress induced growth inhibitor family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306323	Osgin2	oxidative stress induced growth inhibitor family member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306323	Osgin2	oxidative stress induced growth inhibitor family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306323	Osgin2	oxidative stress induced growth inhibitor family member 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306323	Osgin2	oxidative stress induced growth inhibitor family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306323	Osgin2	oxidative stress induced growth inhibitor family member 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306323	Osgin2	oxidative stress induced growth inhibitor family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306323	Osgin2	oxidative stress induced growth inhibitor family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306323	Osgin2	oxidative stress induced growth inhibitor family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306324	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306324	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306324	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306324	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306324	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:3275	thymoma		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306324	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306324	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306324	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306324	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306324	Rer1	retention in endoplasmic reticulum sorting receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306325	Ppan	peter pan homolog	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1314882	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1306325	Ppan	peter pan homolog	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1314882	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1306327	Fam107a	family with sequence similarity 107, member A	gene	DOID:3070	high grade glioma		ISO	RGD:1605094	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16865689
1306327	Fam107a	family with sequence similarity 107, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306330	Ing1	inhibitor of growth family, member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314890	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306330	Ing1	inhibitor of growth family, member 1	gene	DOID:1324	lung cancer		ISO	RGD:1314890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306330	Ing1	inhibitor of growth family, member 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1314890	D	RGD:1600155|PMID:10866301	20070228	RGD		squamous cell carcinoma of the head and neck, OMIM:275355	
1306330	Ing1	inhibitor of growth family, member 1	gene	DOID:2773	contact dermatitis		ISO	RGD:1314890	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1306330	Ing1	inhibitor of growth family, member 1	gene	DOID:3275	thymoma		ISO	RGD:1314890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306330	Ing1	inhibitor of growth family, member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314890	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306330	Ing1	inhibitor of growth family, member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314890	D	RGD:7240710	20130221	OMIM			
1306330	Ing1	inhibitor of growth family, member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314890	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC	
1306330	Ing1	inhibitor of growth family, member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306330	Ing1	inhibitor of growth family, member 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1314890	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306330	Ing1	inhibitor of growth family, member 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1314890	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306330	Ing1	inhibitor of growth family, member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306332	Asnsd1	asparagine synthetase domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306332	Asnsd1	asparagine synthetase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306332	Asnsd1	asparagine synthetase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306332	Asnsd1	asparagine synthetase domain containing 1	gene	DOID:423	myopathy		ISS	RGD:1314893	D	RGD:13592920	20240418	MouseDO			
1306332	Asnsd1	asparagine synthetase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306333	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:0111471	combined oxidative phosphorylation deficiency 30		ISO	RGD:1314894	D	RGD:7240710	20190315	OMIM			
1306333	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:0111471	combined oxidative phosphorylation deficiency 30		ISO	RGD:1314894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 | ClinVar Annotator: match by term: TRMT10C-related condition	PMID:27132592|PMID:28492532
1306333	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:1909	melanoma		ISO	RGD:1314894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306333	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:3650	lactic acidosis		ISO	RGD:1314894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	
1306333	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306333	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1306333	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:9006617	Fatigue		ISO	RGD:1314894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
1306333	Trmt10c	tRNA methyltransferase 10C, mitochondrial RNase P subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1306334	Ifna4	interferon, alpha 4	gene	DOID:0080642	Middle East respiratory syndrome	disease_progression	ISO	RGD:1621621	D	RGD:30309198|PMID:30626685	20200618	RGD			
1306334	Ifna4	interferon, alpha 4	gene	DOID:0080711	multisystem inflammatory syndrome in children		ISO	RGD:1314896	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children	
1306335	Arid3b	AT-rich interaction domain 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306335	Arid3b	AT-rich interaction domain 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314897	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306335	Arid3b	AT-rich interaction domain 3B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306335	Arid3b	AT-rich interaction domain 3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306335	Arid3b	AT-rich interaction domain 3B	gene	DOID:4362	cervical cancer		ISO	RGD:1314897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306335	Arid3b	AT-rich interaction domain 3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314897	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306335	Arid3b	AT-rich interaction domain 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306335	Arid3b	AT-rich interaction domain 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:10534	stomach cancer		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:1115	sarcoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:1909	melanoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:4362	cervical cancer		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:5041	esophageal cancer		ISO	RGD:1314899	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:1314899	D	RGD:8554872	20160419	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:26350515
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306336	Acp6	acid phosphatase 6, lysophosphatidic	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306337	Hacd2	3-hydroxyacyl-CoA dehydratase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306337	Hacd2	3-hydroxyacyl-CoA dehydratase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306337	Hacd2	3-hydroxyacyl-CoA dehydratase 2	gene	DOID:1324	lung cancer		ISO	RGD:1314901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1306337	Hacd2	3-hydroxyacyl-CoA dehydratase 2	gene	DOID:1909	melanoma		ISO	RGD:1314901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306337	Hacd2	3-hydroxyacyl-CoA dehydratase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306337	Hacd2	3-hydroxyacyl-CoA dehydratase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306338	Rnd1	Rho family GTPase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306338	Rnd1	Rho family GTPase 1	gene	DOID:3275	thymoma		ISO	RGD:1314903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306338	Rnd1	Rho family GTPase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306338	Rnd1	Rho family GTPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306339	Zfp110	zinc finger protein 110	gene	DOID:10534	stomach cancer		ISO	RGD:1347715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306339	Zfp110	zinc finger protein 110	gene	DOID:3275	thymoma		ISO	RGD:1347715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306339	Zfp110	zinc finger protein 110	gene	DOID:4362	cervical cancer		ISO	RGD:1347715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306339	Zfp110	zinc finger protein 110	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306339	Zfp110	zinc finger protein 110	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1314905	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18815271
1306339	Zfp110	zinc finger protein 110	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306339	Zfp110	zinc finger protein 110	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306341	Lcn9	lipocalin 9	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1345733	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1	PMID:28492532|PMID:29907982
1306344	Znfx1	zinc finger, NFX1-type containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306344	Znfx1	zinc finger, NFX1-type containing 1	gene	DOID:0061061	immunodeficiency 91		ISO	RGD:1603622	D	RGD:7240710	20220209	OMIM			
1306344	Znfx1	zinc finger, NFX1-type containing 1	gene	DOID:0061061	immunodeficiency 91		ISO	RGD:1603622	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION | ClinVar Annotator: match by term: Immunodeficiency 91 and hyperinflammation | ClinVar Annotator: match by term: ZNFX1-related condition	PMID:25741868|PMID:28492532|PMID:33876776|PMID:34708404|PMID:39333773
1306344	Znfx1	zinc finger, NFX1-type containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306344	Znfx1	zinc finger, NFX1-type containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306344	Znfx1	zinc finger, NFX1-type containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306344	Znfx1	zinc finger, NFX1-type containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306344	Znfx1	zinc finger, NFX1-type containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603622	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306344	Znfx1	zinc finger, NFX1-type containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306344	Znfx1	zinc finger, NFX1-type containing 1	gene	DOID:630	genetic disease		ISO	RGD:1603622	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1306344	Znfx1	zinc finger, NFX1-type containing 1	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
1306344	Znfx1	zinc finger, NFX1-type containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306344	Znfx1	zinc finger, NFX1-type containing 1	gene	DOID:9008385	Vomiting		ISO	RGD:1603622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
1306345	Snrpd1	small nuclear ribonucleoprotein D1 polypeptide	gene	DOID:10952	nephritis		IDA		D	RGD:10755697|PMID:11771960	20160203	RGD		associated with Lupus Erythematosus, Systemic in humans	
1306345	Snrpd1	small nuclear ribonucleoprotein D1 polypeptide	gene	DOID:4362	cervical cancer		ISO	RGD:1314912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306345	Snrpd1	small nuclear ribonucleoprotein D1 polypeptide	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306345	Snrpd1	small nuclear ribonucleoprotein D1 polypeptide	gene	DOID:576	proteinuria		IDA		D	RGD:10755721|PMID:16418806	20160203	RGD		associated with Lupus Erythematosus, Systemic in a mouse model	
1306345	Snrpd1	small nuclear ribonucleoprotein D1 polypeptide	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306345	Snrpd1	small nuclear ribonucleoprotein D1 polypeptide	gene	DOID:65	connective tissue disease		ISO	RGD:1314912	D	RGD:10755695|PMID:2477448	20160203	RGD			
1306345	Snrpd1	small nuclear ribonucleoprotein D1 polypeptide	gene	DOID:9074	systemic lupus erythematosus	severity	IDA		D	RGD:10755713|PMID:12571858	20160203	RGD		mouse model	
1306345	Snrpd1	small nuclear ribonucleoprotein D1 polypeptide	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306345	Snrpd1	small nuclear ribonucleoprotein D1 polypeptide	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1314912	D	RGD:10755709|PMID:24080422	20160203	RGD		mRNA:increased expression:nasopharynx (human)	
1306346	Ubxn7	UBX domain protein 7	gene	DOID:10534	stomach cancer		ISO	RGD:1607058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306346	Ubxn7	UBX domain protein 7	gene	DOID:3275	thymoma		ISO	RGD:1607058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306346	Ubxn7	UBX domain protein 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1607058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306346	Ubxn7	UBX domain protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306346	Ubxn7	UBX domain protein 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306348	Pcdh9	protocadherin 9	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314916	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252227
1306348	Pcdh9	protocadherin 9	gene	DOID:10534	stomach cancer		ISO	RGD:1314916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306348	Pcdh9	protocadherin 9	gene	DOID:1909	melanoma		ISO	RGD:1314916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306348	Pcdh9	protocadherin 9	gene	DOID:3275	thymoma		ISO	RGD:1314916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306348	Pcdh9	protocadherin 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306348	Pcdh9	protocadherin 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306349	Fmn1	formin 1	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1606398	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:25741868
1306349	Fmn1	formin 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:1606398	D	RGD:405650603|PMID:27151647	20240429	RGD		associated with other drug dependencies; DNA:SNPs:CDS: (rs3910705)	
1306349	Fmn1	formin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606398	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306349	Fmn1	formin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606398	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306349	Fmn1	formin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306349	Fmn1	formin 1	gene	DOID:1115	sarcoma		ISO	RGD:1606398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1306349	Fmn1	formin 1	gene	DOID:1324	lung cancer		ISO	RGD:1606398	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306349	Fmn1	formin 1	gene	DOID:1909	melanoma		ISO	RGD:1606398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306349	Fmn1	formin 1	gene	DOID:3275	thymoma		ISO	RGD:1606398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1306349	Fmn1	formin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1306349	Fmn1	formin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606398	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306349	Fmn1	formin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306349	Fmn1	formin 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606398	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:21822267|PMID:23372765|PMID:25741868|PMID:28008555|PMID:29348823
1306349	Fmn1	formin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1306349	Fmn1	formin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1306349	Fmn1	formin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306349	Fmn1	formin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306349	Fmn1	formin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306349	Fmn1	formin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0050567	orofacial cleft		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314918	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:23033978|PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0060260	ptosis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0061011	craniosynostosis 3		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coronal craniosynostosis	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0080231	autosomal dominant intellectual developmental disorder 52		ISO	RGD:1314918	D	RGD:7240710	20190315	OMIM			
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0080231	autosomal dominant intellectual developmental disorder 52		ISO	RGD:1314918	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASH1L-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 52	PMID:25741868|PMID:28492532|PMID:29276005
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0080855	Parkinsonism		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1314918	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Borderline intellectual disability | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:23033978|PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:10907	microcephaly		ISO	RGD:1314918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25363760|PMID:25741868|PMID:28191889|PMID:28263302
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:11155	hypohidrosis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:11830	myopia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:11836	clubfoot		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:12176	goiter		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:12270	coloboma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1314918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25363760|PMID:25741868|PMID:28191889|PMID:28263302
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1596	depressive disorder		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1682	congenital heart disease		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1757	facial hemiatrophy		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hemiatrophy	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1314918	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:29300386
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1891	optic nerve disease		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1924	hypogonadism		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:1969	cerebral palsy		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:2030	anxiety disorder		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:2468	psychotic disorder		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:2841	asthma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:3070	high grade glioma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:3087	gingivitis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:3144	cutis laxa		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:3312	bipolar disorder		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:3459	breast carcinoma		ISO	RGD:1314918	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:23033978|PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:480	movement disease		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314918	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:540	strabismus		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:5419	schizophrenia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:30564305
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:8927	learning disability		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9000053	Headache		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001031	Retrognathia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25363760|PMID:25741868|PMID:28191889|PMID:28263302
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anorectal anomaly	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001510	Funnel Chest		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial dissection	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001733	Tinnitus		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314918	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1314918	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9003126	Hallucinations		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9003507	Premature Birth		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9003539	Hyperacusis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9003816	Macrocephaly		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314918	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314918	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: syndromic complex neurodevelopmental disorder	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:1314918	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Childhood obesity	PMID:23033978|PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9004866	Ataxia		ISO	RGD:1314918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25363760|PMID:25741868|PMID:28191889|PMID:28263302
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9005077	Joint Instability		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314918	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:23033978|PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1314918	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:27064257
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9007573	Flatfoot		ISO	RGD:1314918	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9007661	Dwarfism		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9007736	Vertigo		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9008023	Memory Disorders		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314918	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9008421	Epistaxis		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9008582	Developmental Disease		ISO	RGD:1314918	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:936	brain disease		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9409	diabetes insipidus		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9834	hyperopia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9840	esotropia		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
1306350	Ash1l	ASH1 like histone lysine methyltransferase	gene	DOID:9970	obesity		ISO	RGD:1314918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:0050453	lissencephaly		ISO	RGD:1605568	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:0112233	lissencephaly 8		ISO	RGD:1605568	D	RGD:7240710	20190315	OMIM			
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:0112233	lissencephaly 8		ISO	RGD:1605568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LISSENCEPHALY 8 | ClinVar Annotator: match by term: Lissencephaly 8 | ClinVar Annotator: match by term: TMTC3-related condition	PMID:25741868|PMID:27773428|PMID:28492532|PMID:28973161
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:1115	sarcoma		ISO	RGD:1605568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:1324	lung cancer		ISO	RGD:1605568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:1909	melanoma		ISO	RGD:1605568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:3275	thymoma		ISO	RGD:1605568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:630	genetic disease		ISO	RGD:1605568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306351	Tmtc3	transmembrane O-mannosyltransferase targeting cadherins 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306353	Zmym5	zinc finger MYM-type containing 5	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1343268	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1306353	Zmym5	zinc finger MYM-type containing 5	gene	DOID:3275	thymoma		ISO	RGD:1343268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306353	Zmym5	zinc finger MYM-type containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1343268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306353	Zmym5	zinc finger MYM-type containing 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1343268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306354	Svil	supervillin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306354	Svil	supervillin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306354	Svil	supervillin	gene	DOID:0112108	myofibrillar myopathy 10		ISO	RGD:1314924	D	RGD:7240710	20201021	OMIM			
1306354	Svil	supervillin	gene	DOID:0112108	myofibrillar myopathy 10		ISO	RGD:1314924	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy 10 | ClinVar Annotator: match by term: SVIL-related condition	PMID:25741868|PMID:28492532
1306354	Svil	supervillin	gene	DOID:10534	stomach cancer		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306354	Svil	supervillin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306354	Svil	supervillin	gene	DOID:1115	sarcoma		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306354	Svil	supervillin	gene	DOID:1324	lung cancer		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306354	Svil	supervillin	gene	DOID:3275	thymoma		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306354	Svil	supervillin	gene	DOID:4362	cervical cancer		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306354	Svil	supervillin	gene	DOID:5041	esophageal cancer		ISO	RGD:1314924	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306354	Svil	supervillin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306354	Svil	supervillin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306354	Svil	supervillin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1306354	Svil	supervillin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306354	Svil	supervillin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314924	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
1306355	Sp140	SP140 nuclear body protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306355	Sp140	SP140 nuclear body protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306355	Sp140	SP140 nuclear body protein	gene	DOID:0060058	lymphoma		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306355	Sp140	SP140 nuclear body protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306355	Sp140	SP140 nuclear body protein	gene	DOID:1115	sarcoma		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306355	Sp140	SP140 nuclear body protein	gene	DOID:1909	melanoma		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306355	Sp140	SP140 nuclear body protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306355	Sp140	SP140 nuclear body protein	gene	DOID:4362	cervical cancer		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306355	Sp140	SP140 nuclear body protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306355	Sp140	SP140 nuclear body protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1314926	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306355	Sp140	SP140 nuclear body protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306355	Sp140	SP140 nuclear body protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314926	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306355	Sp140	SP140 nuclear body protein	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1314926	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18758461
1306355	Sp140	SP140 nuclear body protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306355	Sp140	SP140 nuclear body protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306355	Sp140	SP140 nuclear body protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306356	Slc38a10	solute carrier family 38, member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306356	Slc38a10	solute carrier family 38, member 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306356	Slc38a10	solute carrier family 38, member 10	gene	DOID:1909	melanoma		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306356	Slc38a10	solute carrier family 38, member 10	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306356	Slc38a10	solute carrier family 38, member 10	gene	DOID:4362	cervical cancer		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306356	Slc38a10	solute carrier family 38, member 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1601937	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306356	Slc38a10	solute carrier family 38, member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306356	Slc38a10	solute carrier family 38, member 10	gene	DOID:6039	uveal melanoma		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306356	Slc38a10	solute carrier family 38, member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306356	Slc38a10	solute carrier family 38, member 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306357	Sun5	Sad1 and UNC84 domain containing 5	gene	DOID:0070184	spermatogenic failure 16		ISO	RGD:1314928	D	RGD:7240710	20190315	OMIM			
1306357	Sun5	Sad1 and UNC84 domain containing 5	gene	DOID:0070184	spermatogenic failure 16		ISO	RGD:1314928	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 16 | ClinVar Annotator: match by term: Spermatogenic failure 16	PMID:25741868|PMID:27640305|PMID:28492532|PMID:29331481
1306357	Sun5	Sad1 and UNC84 domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1314928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306357	Sun5	Sad1 and UNC84 domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1314928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306357	Sun5	Sad1 and UNC84 domain containing 5	gene	DOID:3275	thymoma		ISO	RGD:1314928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306359	Fiz1	FLT3-interacting zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306359	Fiz1	FLT3-interacting zinc finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:10534	stomach cancer		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:1115	sarcoma		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:1909	melanoma		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:3275	thymoma		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1314932	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20705357
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:4362	cervical cancer		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1314932	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1314932	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17143476
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314932	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306360	Chfr	checkpoint with forkhead and ring finger domains	gene	DOID:9256	colorectal cancer		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:0050696	fetal alcohol spectrum disorder	treatment	IEP		D	RGD:13432044|PMID:23763370	20240626	RGD			
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25212744|PMID:28492532
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:0081337	congenital myopathy		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25212744|PMID:28492532
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1314934	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25212744|PMID:28492532
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:1115	sarcoma		ISO	RGD:1314934	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:12849	autistic disorder		ISO	RGD:1314934	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11543639|PMID:19404257|PMID:20609483
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:1824	status epilepticus		ISO	RGD:1314934	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Non-Convulsive Status Epilepticus	PMID:25741868
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:1826	epilepsy		ISO	RGD:1314934	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15878204
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:1826	epilepsy		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11748306|PMID:20034088|PMID:25212744|PMID:25741868|PMID:28492532|PMID:36011358
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:1932	Angelman syndrome		IMP		D	RGD:126790466|PMID:32066685	20210422	RGD			
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:1932	Angelman syndrome		ISO	RGD:1314934	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15878204
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:1932	Angelman syndrome		ISO	RGD:1314934	D	RGD:1358469|PMID:8988171	20070510	RGD			
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:1932	Angelman syndrome		ISO	RGD:1314934	D	RGD:36174229|PMID:10424818	20250911	RGD		DNA:mutations:exon:multiple	
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:1932	Angelman syndrome		ISO	RGD:1314934	D	RGD:7240710	20130221	OMIM			
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:1932	Angelman syndrome		ISO	RGD:1314934	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANGELMAN SYNDROME | ClinVar Annotator: match by term: Angelman syndrome | ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME | ClinVar Annotator: match by term: UBE3A-related condition	PMID:10647895|PMID:11748306|PMID:12210318|PMID:14981718|PMID:15054837|PMID:15263005|PMID:16470747|PMID:17765640|PMID:17940072|PMID:18414213|PMID:18821858|PMID:19213023|PMID:20034088|PMID:20301323|PMID:22190369|PMID:22670133|PMID:2309781|PMID:23416059|PMID:23495136|PMID:23708187|PMID:24876791|PMID:25099823|PMID:25212744|PMID:25741868|PMID:25884337|PMID:26219744|PMID:26255772|PMID:26467025|PMID:26993267|PMID:28252636|PMID:28492532|PMID:29162042|PMID:31031587|PMID:33057194|PMID:33607653|PMID:34815418|PMID:36011358|PMID:8988171|PMID:8988172|PMID:9887341
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:1932	Angelman syndrome		ISS	RGD:1314935	D	RGD:13592920	20230718	MouseDO		OMIM:105830	
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:1932	Angelman syndrome	treatment	ISO	RGD:1314935	D	RGD:12859273|PMID:25866966	20170413	RGD			
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:1932	Angelman syndrome	treatment	ISO	RGD:1314935	D	RGD:12859274|PMID:25470045	20170413	RGD			
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:3275	thymoma		ISO	RGD:1314934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:4362	cervical cancer		ISO	RGD:1314934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:480	movement disease		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:11748306|PMID:20034088|PMID:25212744|PMID:25741868|PMID:28492532|PMID:36011358
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:630	genetic disease		ISO	RGD:1314934	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15263005|PMID:16470747|PMID:17765640|PMID:17940072|PMID:19213023|PMID:22670133|PMID:2309781|PMID:24876791|PMID:25212744|PMID:25741868|PMID:25884337|PMID:26219744|PMID:26467025|PMID:28492532|PMID:33547396|PMID:34815418|PMID:8988171
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:767	muscular atrophy		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25212744|PMID:28492532
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25212744|PMID:28492532
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:11748306|PMID:20034088|PMID:25212744|PMID:25741868|PMID:28492532|PMID:36011358
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25212744|PMID:28492532
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Facial hypotonia	PMID:25212744|PMID:28492532
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:9008023	Memory Disorders		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:11748306|PMID:20034088|PMID:25212744|PMID:25741868|PMID:28492532|PMID:36011358
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25212744|PMID:28492532
1306361	Ube3a	ubiquitin protein ligase E3A	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1314934	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15878204
1306362	Rab35	RAB35, member RAS oncogene family	gene	DOID:10534	stomach cancer		ISO	RGD:1314936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306362	Rab35	RAB35, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1314936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306362	Rab35	RAB35, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1314936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306362	Rab35	RAB35, member RAS oncogene family	gene	DOID:5041	esophageal cancer		ISO	RGD:1314936	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306362	Rab35	RAB35, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306362	Rab35	RAB35, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306363	Wdr41	WD repeat domain 41	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306363	Wdr41	WD repeat domain 41	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306363	Wdr41	WD repeat domain 41	gene	DOID:10534	stomach cancer		ISO	RGD:1314938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306363	Wdr41	WD repeat domain 41	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306363	Wdr41	WD repeat domain 41	gene	DOID:1324	lung cancer		ISO	RGD:1314938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306363	Wdr41	WD repeat domain 41	gene	DOID:3070	high grade glioma		ISO	RGD:1314938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306363	Wdr41	WD repeat domain 41	gene	DOID:3275	thymoma		ISO	RGD:1314938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306363	Wdr41	WD repeat domain 41	gene	DOID:4362	cervical cancer		ISO	RGD:1314938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306363	Wdr41	WD repeat domain 41	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306363	Wdr41	WD repeat domain 41	gene	DOID:5041	esophageal cancer		ISO	RGD:1314938	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306363	Wdr41	WD repeat domain 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306363	Wdr41	WD repeat domain 41	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306363	Wdr41	WD repeat domain 41	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306363	Wdr41	WD repeat domain 41	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306364	Fam20a	FAM20A, golgi associated secretory pathway pseudokinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306364	Fam20a	FAM20A, golgi associated secretory pathway pseudokinase	gene	DOID:0110066	amelogenesis imperfecta type 1G		ISO	RGD:1314939	D	RGD:7240710	20171011	OMIM			
1306364	Fam20a	FAM20A, golgi associated secretory pathway pseudokinase	gene	DOID:0110066	amelogenesis imperfecta type 1G		ISO	RGD:1314939	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IG | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction	PMID:21549343|PMID:21990045|PMID:23434854|PMID:24259279|PMID:25741868|PMID:28086997|PMID:28492532|PMID:37159186|PMID:8597613
1306364	Fam20a	FAM20A, golgi associated secretory pathway pseudokinase	gene	DOID:1115	sarcoma		ISO	RGD:1314939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306364	Fam20a	FAM20A, golgi associated secretory pathway pseudokinase	gene	DOID:1909	melanoma		ISO	RGD:1314939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306364	Fam20a	FAM20A, golgi associated secretory pathway pseudokinase	gene	DOID:3275	thymoma		ISO	RGD:1314939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306364	Fam20a	FAM20A, golgi associated secretory pathway pseudokinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314939	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306364	Fam20a	FAM20A, golgi associated secretory pathway pseudokinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306364	Fam20a	FAM20A, golgi associated secretory pathway pseudokinase	gene	DOID:630	genetic disease		ISO	RGD:1314939	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306364	Fam20a	FAM20A, golgi associated secretory pathway pseudokinase	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1314939	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1306364	Fam20a	FAM20A, golgi associated secretory pathway pseudokinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:153000007|RGD:153000012	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	
1306364	Fam20a	FAM20A, golgi associated secretory pathway pseudokinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1314941	D	RGD:401900681|PMID:25495208	20231115	RGD		DNA:SNP:3���-UTR:G>T(rs1640299)(human)	
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314941	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomach cancer	
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:1115	sarcoma		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1314941	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:150	disease of mental health		ISO	RGD:1314941	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18469815
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:1664	pineoblastoma		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pineoblastoma	PMID:27993330|PMID:31768671|PMID:31802236|PMID:31820118|PMID:32124011
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:1909	melanoma		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:2154	nephroblastoma		ISO	RGD:1314941	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:3275	thymoma		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:9003566	Mesothelioma		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306365	Dgcr8	DGCR8 microprocessor complex subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:0060135	apraxia		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1314942	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314942	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27108999|PMID:28492532
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:1143	exotropia		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:28492532
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:12849	autistic disorder		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:1909	melanoma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:3070	high grade glioma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314942	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1314942	D	RGD:8554872	20190507	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:630	genetic disease		ISO	RGD:1314942	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26138117|PMID:26153217|PMID:27108999|PMID:28492532|PMID:33057194|PMID:35982159
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9000271	Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation		ISO	RGD:1314942	D	RGD:7240710	20190315	OMIM			
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9000271	Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation		ISO	RGD:1314942	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HERC1-related disorder | ClinVar Annotator: match by term: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION | ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation	PMID:25741868|PMID:26138117|PMID:26153217|PMID:27108999|PMID:28492532|PMID:32921582|PMID:6138117
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314942	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	PMID:26801221
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature	PMID:28492532
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306366	Herc1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1314943	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:13580	cholestasis		ISO	RGD:1314943	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1314943	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:9005019	JABERI-ELAHI SYNDROME		ISO	RGD:1314943	D	RGD:7240710	20190315	OMIM			
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:9005019	JABERI-ELAHI SYNDROME		ISO	RGD:1314943	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GTPBP2-related condition | ClinVar Annotator: match by term: JABERI-ELAHI SYNDROME | ClinVar Annotator: match by term: Jaberi-Elahi syndrome	PMID:25741868|PMID:28492532
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306367	Gtpbp2	GTP binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:11875755|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1314945	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983784|PMID:26192919|PMID:28450277
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1314945	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Regional enteritis	PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12650796|PMID:12673278|PMID:12704363|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15571588|PMID:15712650|PMID:16010583|PMID:16416181|PMID:16669960|PMID:17301648|PMID:17489054|PMID:18240302|PMID:18489434|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20047977|PMID:20332463|PMID:20713205|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22939045|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24047397|PMID:24345423|PMID:24586700|PMID:24597572|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26167078|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32597225|PMID:32716958|PMID:33394828
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome		ISO	RGD:1314945	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:11528384|PMID:15086578|PMID:15459013|PMID:19467619
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome		ISO	RGD:1314945	D	RGD:7240710	20130221	OMIM			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome		ISO	RGD:1314945	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome	PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14522785|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15086578|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15554080|PMID:15571588|PMID:15620648|PMID:15712650|PMID:15770725|PMID:15812565|PMID:15967635|PMID:15998797|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17157607|PMID:17207093|PMID:17301648|PMID:17393391|PMID:17489054|PMID:17576681|PMID:17968944|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18718560|PMID:18942754|PMID:18955195|PMID:19103559|PMID:19116920|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19479836|PMID:19479837|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20039400|PMID:20047977|PMID:20084402|PMID:20199415|PMID:20230816|PMID:20332463|PMID:20565245|PMID:20713205|PMID:20959815|PMID:21097508|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21596301|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22377804|PMID:22440928|PMID:22509093|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24595243|PMID:24597572|PMID:24713464|PMID:24803813|PMID:24876985|PMID:25093298|PMID:25136265|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25429073|PMID:25619344|PMID:25741868|PMID:25829188|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26606664|PMID:26768519|PMID:26774591|PMID:27306066|PMID:27339507|PMID:27373512|PMID:27419275|PMID:27625029|PMID:28008999|PMID:28130683|PMID:28422189|PMID:28492532|PMID:28639104|PMID:28658209|PMID:28750667|PMID:28814775|PMID:28836875|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29697845|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:30574935|PMID:30693132|PMID:30783801|PMID:30806112|PMID:31681265|PMID:32346654|PMID:32463623|PMID:32597225|PMID:32647028|PMID:32707200|PMID:32716958|PMID:33042144|PMID:33394828|PMID:33692434|PMID:34251956|PMID:34440800|PMID:34573280|PMID:35273242|PMID:35314268|PMID:7825454|PMID:9124059|PMID:9536098
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BLAU SYNDROME | ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Granulomatous inflammatory arthritis, dermatitis and uveitis, familial | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome	PMID:11385576|PMID:11528384|PMID:11875755|PMID:12512038|PMID:12626759|PMID:12630966|PMID:14522785|PMID:15024686|PMID:15044951|PMID:15198989|PMID:15459013|PMID:15554080|PMID:15571588|PMID:15770725|PMID:15812565|PMID:15967635|PMID:16199547|PMID:16278823|PMID:16485124|PMID:16804397|PMID:17157607|PMID:17207093|PMID:17393391|PMID:17576681|PMID:17968944|PMID:18240302|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18718560|PMID:19479836|PMID:19713276|PMID:20039400|PMID:20084402|PMID:20199415|PMID:20230816|PMID:20565245|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22509093|PMID:22684479|PMID:22926499|PMID:24033266|PMID:24595243|PMID:24713464|PMID:24876985|PMID:25093298|PMID:25416713|PMID:25429073|PMID:25619344|PMID:25741868|PMID:25819062|PMID:26070941|PMID:26606664|PMID:27306066|PMID:27625029|PMID:28130683|PMID:28361096|PMID:28422189|PMID:28492532|PMID:28639104|PMID:28836875|PMID:29178652|PMID:29248579|PMID:29503906|PMID:29570830|PMID:29697845|PMID:30159790|PMID:30166421|PMID:30693132|PMID:30783801|PMID:31760574|PMID:32463623|PMID:32647028|PMID:32707200|PMID:32909274|PMID:33394828|PMID:33692434|PMID:34251956|PMID:34440800|PMID:34573280|PMID:38348033|PMID:38741190|PMID:9536098
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome	susceptibility	ISO	RGD:1314945	D	RGD:8158040|PMID:11528384	20140205	RGD		DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome	susceptibility	ISO	RGD:1314945	D	RGD:8158051|PMID:19116920	20140206	RGD		DNA:snp:cds:p.E383G (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome	susceptibility	ISO	RGD:1314945	D	RGD:8547515|PMID:15812565	20140213	RGD		DNA:snp:cds:p.E383K (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome	susceptibility	ISO	RGD:1314945	D	RGD:8547518|PMID:19479837	20140213	RGD		DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1314945	D	RGD:152177496|PMID:27354594	20220513	RGD		DNA:SNP:3'utr: (rs3135499) C>A (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050922	gastrointestinal carcinoma		ISO	RGD:1314945	D	RGD:5508759|PMID:20230816	20111021	RGD		associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0060180	colitis		IEP		D	RGD:1600781|PMID:16891783	20070327	RGD		mRNA:increased expression:colon	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0060180	colitis		ISO	RGD:1314946	D	RGD:5508727|PMID:21471573	20111020	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0060180	colitis		ISO	RGD:1314946	D	RGD:5508755|PMID:20921147	20111020	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0060294	cold-induced sweating syndrome		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cold-induced sweating	PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:1314945	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 1	PMID:25741868
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0080176	meningococcal meningitis	susceptibility	ISO	RGD:1314945	D	RGD:7800668|PMID:23691182	20140115	RGD		DNA:SNP,haplotype: :SNP8(human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0081267	graft-versus-host disease	severity	ISO	RGD:1314945	D	RGD:8158050|PMID:15090455	20140206	RGD		DNA:snps, insertion:exons:p.R675W, p.G1881R, c.2936_2937insC (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0081451	PFAPA syndrome		ISO	RGD:1314945	D	RGD:13204855|PMID:21914217	20170724	RGD		DNA:mutations:cds	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0110892	inflammatory bowel disease 1		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease 1	PMID:11385576|PMID:11875755|PMID:12512038|PMID:12626759|PMID:12630966|PMID:15024686|PMID:15044951|PMID:15198989|PMID:15459013|PMID:15571588|PMID:15770725|PMID:15967635|PMID:16485124|PMID:18240302|PMID:18489434|PMID:18507017|PMID:18541930|PMID:19713276|PMID:20230816|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22377804|PMID:22684479|PMID:22926499|PMID:24033266|PMID:25416713|PMID:25741868|PMID:26768519|PMID:27419275|PMID:28361096|PMID:28492532|PMID:31760574|PMID:32463623
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0110892	inflammatory bowel disease 1		ISS	RGD:1314946	D	RGD:13592920	20180518	MouseDO		OMIM:266600	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:1024	leprosy		ISO	RGD:1314945	D	RGD:5508743|PMID:20350193	20111020	RGD		DNA:polymorphisms: :multiple (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:1024	leprosy		ISO	RGD:1314945	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Leprosy, susceptibility to, 1	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:104	bacterial infectious disease		ISO	RGD:1314946	D	RGD:5508748|PMID:21669398	20111020	RGD		associated with Virus Diseases	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:10457	Legionnaires' disease		ISO	RGD:1314946	D	RGD:5131443|PMID:20685341	20110427	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:11729	Lyme disease		ISO	RGD:1314946	D	RGD:5508754|PMID:21387014	20111020	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:11830	myopia		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:12176	goiter		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:13141	uveitis		ISO	RGD:1314946	D	RGD:5508729|PMID:21296813	20111020	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:11875755|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1314945	D	RGD:5131514|PMID:16267612	20110502	RGD		DNA:insertion: : 3020_3021insC (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:13241	Behcet's disease		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Behcet disease	PMID:14597055|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:1314945	D	RGD:13204711|PMID:15515785	20170714	RGD		DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:1314945	D	RGD:8158059|PMID:19748964	20140206	RGD		DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:13250	diarrhea		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:13406	pulmonary sarcoidosis	disease_progression	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:2104C>T (human)	PMID:19679608|REF_RGD_ID:4892066
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:1596	depressive disorder		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1314945	D	RGD:5131514|PMID:16267612	20110502	RGD		DNA:insertion: : 3020_3021insC (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:1924	hypogonadism		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:1936	atherosclerosis		ISO	RGD:1314946	D	RGD:8158039|PMID:24324141	20140205	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1314946	D	RGD:5508733|PMID:20863826	20111020	RGD		mRNA, protein:increased expression:brain	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2280	hidradenitis suppurativa		ISO	RGD:1314945	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2355	anemia		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2378	relapsing-remitting multiple sclerosis	disease_progression	ISO	RGD:1314945	D	RGD:13204725|PMID:20595247	20170717	RGD		DNA:SNPs: :rs3135499,rs2066842(human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1314945	D	RGD:5131515|PMID:20223031	20110502	RGD		DNA:insertion:Cds: 3020_3021insC (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2596	larynx cancer	onset	ISO	RGD:1314945	D	RGD:5131515|PMID:20223031	20110502	RGD		DNA:insertion:Cds: 3020_3021insC (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2723	dermatitis		ISO	RGD:1314945	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:19467619
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:1314945	D	RGD:5131450|PMID:18158963	20110427	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2841	asthma		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2841	asthma		ISO	RGD:1314946	D	RGD:5508757|PMID:21051079	20111021	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1314945	D	RGD:5131477|PMID:16008671	20110429	RGD		DNA:polymorphisms:intron, exon/3'UTR (rs1077861, rs3135500) (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:17301648|PMID:17489054|PMID:17576681|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25093298|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26774591|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28166811|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32463623|PMID:32597225|PMID:32716958|PMID:9536098
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:17301648|PMID:17489054|PMID:17576681|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:23806086|PMID:24033266|PMID:24047397|PMID:24088041|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25093298|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25687216|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26774591|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32463623|PMID:32597225|PMID:32716958|PMID:9536098
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:11875755|PMID:12202985|PMID:12626759|PMID:16199547|PMID:16278823|PMID:16485124|PMID:17576681|PMID:18507017|PMID:20230816|PMID:24033266|PMID:25741868|PMID:26070941|PMID:26774591|PMID:28492532|PMID:29503906|PMID:30159790|PMID:32463623|PMID:38348033|PMID:9536098
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:11875755|PMID:12202985|PMID:16199547|PMID:16485124|PMID:17576681|PMID:18507017|PMID:20230816|PMID:24033266|PMID:25741868|PMID:26070941|PMID:26774591|PMID:28492532|PMID:29503906|PMID:30159790|PMID:32463623|PMID:9536098
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:11875755|PMID:12202985|PMID:16199547|PMID:16485124|PMID:17576681|PMID:18507017|PMID:20230816|PMID:21983784|PMID:24033266|PMID:25741868|PMID:26070941|PMID:26774591|PMID:28492532|PMID:29503906|PMID:30159790|PMID:32463623|PMID:9536098
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:11385576|PMID:11875755|PMID:12202985|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:16199547|PMID:16485124|PMID:17576681|PMID:18240302|PMID:18489434|PMID:18507017|PMID:18541930|PMID:19713276|PMID:20230816|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25416713|PMID:25741868|PMID:26070941|PMID:26774591|PMID:28361096|PMID:28492532|PMID:29503906|PMID:30159790|PMID:31760574|PMID:32463623|PMID:9536098
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1314945	D	RGD:5131510|PMID:18419343	20110502	RGD		DNA:SNPs:CDs:p.P268S, R702W, A725G (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:2987	familial Mediterranean fever	severity	ISO	RGD:1314945	D	RGD:13204709|PMID:22244368	20170714	RGD		DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1314945	D	RGD:5508720|PMID:21943069	20111020	RGD		DNA:SNP:intron: (rs1077861) (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:3393	coronary artery disease		ISO	RGD:1314945	D	RGD:5508725|PMID:21565239	20111020	RGD		DNA:polymorphisms: :p.G908R, 3020_3021insC (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:3525	middle cerebral artery infarction	treatment	IEP		D	RGD:13204729|PMID:24842554	20170717	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:4029	gastritis		ISO	RGD:1314945	D	RGD:5508759|PMID:20230816	20111021	RGD		associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:417	autoimmune disease		ISO	RGD:1314945	D	RGD:5508739|PMID:20646002	20111020	RGD		associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:11875755|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:1314945	D	RGD:8547523|PMID:23858718	20140213	RGD		mRNA, protein:increased expression:nasal cavity mucosa	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:1314945	D	RGD:5131484|PMID:12704363	20110429	RGD		DNA:polymorphisms:cds:2104C>T,2722G>C (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:4989	pancreatitis		IEP		D	RGD:5131438|PMID:20442679	20110427	RGD		protein, mRNA:decreased expression:pancreas, blood cells	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314945	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:5295	intestinal disease		ISO	RGD:1314945	D	RGD:5508739|PMID:20646002	20111020	RGD		associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1314945	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:19479836|PMID:25741868|PMID:28492532|PMID:33394828
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:6543	acne		ISO	RGD:1314945	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:11875755|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:848	arthritis		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:8553	pyoderma gangrenosum		ISO	RGD:1314945	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:1314945	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:20452301
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1314946	D	RGD:8547529|PMID:20580721	20140214	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:874	bacterial pneumonia		ISO	RGD:1314946	D	RGD:5131449|PMID:19360122	20110427	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1314945	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:11385576|PMID:11385577|PMID:11528384|PMID:17435756|PMID:17568627|PMID:18371140|PMID:18438406|PMID:19467619|PMID:37156999
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1314945	D	RGD:5508719|PMID:21983784	20111020	RGD		DNA:missense mutations: :multiple (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1314945	D	RGD:7240710	20180523	OMIM			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Enteritis, Granulomatous | ClinVar Annotator: match by term: Inflammatory bowel disease 1 | ClinVar Annotator: match by term: Regional enteritis	PMID:11385576|PMID:11875755|PMID:12512038|PMID:12626759|PMID:12630966|PMID:15024686|PMID:15044951|PMID:15198989|PMID:15459013|PMID:15571588|PMID:15770725|PMID:15967635|PMID:16199547|PMID:16485124|PMID:18240302|PMID:18489434|PMID:18507017|PMID:18541930|PMID:19713276|PMID:20039400|PMID:20230816|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22377804|PMID:22684479|PMID:22926499|PMID:24033266|PMID:25093298|PMID:25416713|PMID:25741868|PMID:26768519|PMID:27419275|PMID:28361096|PMID:28492532|PMID:29503906|PMID:29697845|PMID:30159790|PMID:31760574|PMID:32463623|PMID:32647028|PMID:33394828
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:8778	Crohn's disease	no_association	ISO	RGD:1314945	D	RGD:5508730|PMID:21155887	20111020	RGD		DNA:missense mutations, frameshift mutation: :p.R702W, p.G908R, 3020_3021insC (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:8778	Crohn's disease	susceptibility	ISO	RGD:1314945	D	RGD:1600778|PMID:11385576	20070327	RGD		DNA:frameshift mutation, missense mutations	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9000099	Experimental Colitis		IEP		D	RGD:13204727|PMID:22997830	20170717	RGD		protein:increased expression:colonic mucosa:	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9000113	Pneumococcal Meningitis		ISO	RGD:1314946	D	RGD:9831197|PMID:25443778	20150303	RGD		mRNA, protein:increased expression:brain	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9000156	Metaplasia		ISO	RGD:1314945	D	RGD:5508759|PMID:20230816	20111021	RGD		associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9000363	Hematuria		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9000972	Fever		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fever	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9001049	Staphylococcal Pneumonia		ISO	RGD:1314946	D	RGD:5131444|PMID:20493961	20110427	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9002019	Granuloma		ISO	RGD:1314946	D	RGD:5508736|PMID:20679225	20111020	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1314946	D	RGD:5508728|PMID:21424514	20111020	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1314946	D	RGD:8552884|PMID:20131263	20170717	RGD			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9002517	Early-Onset Sarcoidosis		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoidosis, early-onset	PMID:11385576|PMID:11875755|PMID:12626759|PMID:15024686|PMID:15459013|PMID:15770725|PMID:15812565|PMID:16278823|PMID:16485124|PMID:17968944|PMID:18056399|PMID:18718560|PMID:19116920|PMID:19479836|PMID:19479837|PMID:20039400|PMID:20565245|PMID:21596301|PMID:22859352|PMID:24713464|PMID:25093298|PMID:25136265|PMID:25416713|PMID:25619344|PMID:25741868|PMID:25829188|PMID:26500656|PMID:27339507|PMID:28130683|PMID:28492532|PMID:28639104|PMID:30693132|PMID:30806112|PMID:32647028|PMID:33042144|PMID:35314268|PMID:38348033|PMID:39372397
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9002720	Splenomegaly	susceptibility	ISO	RGD:1314945	D	RGD:5508739|PMID:20646002	20111020	RGD		associated with Common Variable Immunodeficiency;DNA:missense mutation:cds:p.R702W (rs2066844) (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1314945	D	RGD:5131515|PMID:20223031	20110502	RGD		DNA:insertion:Cds: 3020_3021insC (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9003000	Asthenia		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asthenia	PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9004009	Reperfusion Injury		IEP		D	RGD:5131440|PMID:20107953	20110427	RGD		protein:increased expression:small intestine	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9004484	Sepsis		IEP		D	RGD:8547531|PMID:24059417	20140214	RGD		mRNA:increased expression:intestine mucosa (rat)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9004484	Sepsis	susceptibility	ISO	RGD:1314945	D	RGD:5508752|PMID:21460759	20111020	RGD		DNA:missense mutations, frameshift mutation:cds:p.R702W, p.G908R, 3020_3021insC (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9004527	YAO SYNDROME		ISO	RGD:1314945	D	RGD:7240710	20210127	OMIM			
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9004527	YAO SYNDROME		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Susceptibility to Yao syndrome | ClinVar Annotator: match by term: Yao syndrome	PMID:11385576|PMID:11875755|PMID:12512038|PMID:12626759|PMID:15024686|PMID:15044951|PMID:15198989|PMID:15459013|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25416713|PMID:25741868|PMID:28361096|PMID:28492532|PMID:31760574
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9004610	Acute Lung Injury	treatment	IDA		D	RGD:8547530|PMID:22575870	20140214	RGD		associated with Sepsis	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9004945	Ocular Toxoplasmosis	susceptibility	ISO	RGD:1314945	D	RGD:8547527|PMID:23100559	20140213	RGD		DNA:snp:3' utr:g.*397A>C (rs3135499)(human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9005036	Bacteremia	severity	ISO	RGD:1314945	D	RGD:13204726|PMID:24086711	20170717	RGD		associated with Staphylococcal Infections;	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9006065	Arthralgia		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9007736	Vertigo		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to	PMID:11385576|PMID:11875755|PMID:12626759|PMID:15459013|PMID:25416713|PMID:25741868|PMID:28361096|PMID:28492532|PMID:31760574
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9008103	Seasonal Allergic Rhinitis	susceptibility	ISO	RGD:1314945	D	RGD:5131477|PMID:16008671	20110429	RGD		DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9008385	Vomiting		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1314945	D	RGD:5508746|PMID:21886831	20111020	RGD		protein:increased expression:monocyte	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1314945	D	RGD:13204710|PMID:16642031	20170714	RGD		DNA:mutation:cds:p.G908R  (rs2066845)(human)	
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306368	Nod2	nucleotide-binding oligomerization domain containing 2	gene	DOID:9970	obesity		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
1306371	Uvssa	UV-stimulated scaffold protein A	gene	DOID:0060058	lymphoma		ISO	RGD:1605974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306371	Uvssa	UV-stimulated scaffold protein A	gene	DOID:0060240	UV-sensitive syndrome		ISO	RGD:1605974	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:22466610|PMID:22466612
1306371	Uvssa	UV-stimulated scaffold protein A	gene	DOID:1115	sarcoma		ISO	RGD:1605974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306371	Uvssa	UV-stimulated scaffold protein A	gene	DOID:1324	lung cancer		ISO	RGD:1605974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306371	Uvssa	UV-stimulated scaffold protein A	gene	DOID:1909	melanoma		ISO	RGD:1605974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306371	Uvssa	UV-stimulated scaffold protein A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306371	Uvssa	UV-stimulated scaffold protein A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306371	Uvssa	UV-stimulated scaffold protein A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306371	Uvssa	UV-stimulated scaffold protein A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306371	Uvssa	UV-stimulated scaffold protein A	gene	DOID:9006357	UV-Sensitive Syndrome 3		ISO	RGD:1605974	D	RGD:7240710	20140903	OMIM			
1306371	Uvssa	UV-stimulated scaffold protein A	gene	DOID:9006357	UV-Sensitive Syndrome 3		ISO	RGD:1605974	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 3 | ClinVar Annotator: match by term: UV-sensitive syndrome 3 | ClinVar Annotator: match by term: UVSSA-related condition	PMID:22466612|PMID:25741868|PMID:28492532
1306371	Uvssa	UV-stimulated scaffold protein A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306371	Uvssa	UV-stimulated scaffold protein A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306373	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306373	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306373	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306373	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1314953	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306373	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:1324	lung cancer		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306373	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:3070	high grade glioma		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306373	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1314953	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Susceptibility to chronic obstructive pulmonary disease	
1306373	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306373	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314953	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306373	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306373	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306373	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:9002159	Liver Reperfusion Injury		IEP		D	RGD:626419685|PMID:17397868	20250905	RGD		mRNA:decreased expression:liver	
1306373	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306373	Mgst3	microsomal glutathione S-transferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306374	Eml1	EMAP like 1	gene	DOID:0111169	subcortical band heterotopia		IAGP		D	RGD:597538480|PMID:9236234	20250213	RGD			
1306374	Eml1	EMAP like 1	gene	DOID:0111169	subcortical band heterotopia		ISO	RGD:1314955	D	RGD:597538487|PMID:31173351	20250123	RGD		DNA:mutation:exon:	
1306374	Eml1	EMAP like 1	gene	DOID:0111169	subcortical band heterotopia		ISO	RGD:1343308	D	RGD:11553226|PMID:24859200	20250123	RGD		DNA:mutations:cds:	
1306374	Eml1	EMAP like 1	gene	DOID:0111169	subcortical band heterotopia		ISO	RGD:1343308	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306374	Eml1	EMAP like 1	gene	DOID:0111169	subcortical band heterotopia		ISO	RGD:1343308	D	RGD:7240710	20190315	OMIM			
1306374	Eml1	EMAP like 1	gene	DOID:0111169	subcortical band heterotopia		ISO	RGD:1343308	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BAND HETEROTOPIA | ClinVar Annotator: match by term: Band heterotopia of brain | ClinVar Annotator: match by term: EML1-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28556411|PMID:9536098
1306374	Eml1	EMAP like 1	gene	DOID:0111169	subcortical band heterotopia		ISS	RGD:1314955	D	RGD:13592920	20230718	MouseDO		OMIM:600348	
1306374	Eml1	EMAP like 1	gene	DOID:1324	lung cancer		ISO	RGD:1343308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306374	Eml1	EMAP like 1	gene	DOID:1826	epilepsy		IAGP		D	RGD:597538480|PMID:9236234	20250213	RGD			
1306374	Eml1	EMAP like 1	gene	DOID:2490	congenital nervous system abnormality		ISS	RGD:1314955	D	RGD:13592920	20180518	MouseDO			
1306374	Eml1	EMAP like 1	gene	DOID:3275	thymoma		ISO	RGD:1343308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306374	Eml1	EMAP like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343308	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306374	Eml1	EMAP like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343308	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306374	Eml1	EMAP like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306374	Eml1	EMAP like 1	gene	DOID:630	genetic disease		ISO	RGD:1343308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306374	Eml1	EMAP like 1	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:1343308	D	RGD:597538489|PMID:34249459	20250123	RGD		DNA:SNP: :rs10151787 (A>G)	
1306374	Eml1	EMAP like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1343308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306375	Mrpl36	mitochondrial ribosomal protein L36	gene	DOID:1059	intellectual disability		ISO	RGD:1314956	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1306375	Mrpl36	mitochondrial ribosomal protein L36	gene	DOID:1909	melanoma		ISO	RGD:1314956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306375	Mrpl36	mitochondrial ribosomal protein L36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306375	Mrpl36	mitochondrial ribosomal protein L36	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:11830	myopia		ISO	RGD:1314958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:12442284|PMID:16189622|PMID:18924225|PMID:19299494|PMID:19834502|PMID:20490926|PMID:22089644|PMID:23207808|PMID:25741868|PMID:26704523|PMID:28492532|PMID:29374762|PMID:32714838|PMID:33782433|PMID:34820282
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy	PMID:25741868|PMID:28492532
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:1324	lung cancer		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:1909	melanoma		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:2030	anxiety disorder		ISO	RGD:1314958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:12442284|PMID:16189622|PMID:18924225|PMID:19299494|PMID:19834502|PMID:20490926|PMID:22089644|PMID:23207808|PMID:25741868|PMID:26704523|PMID:28492532|PMID:29374762|PMID:32714838|PMID:33782433|PMID:34820282
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:2394	ovarian cancer		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:2747	glycogen storage disease		ISO	RGD:1314958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease	PMID:10472540|PMID:10655153|PMID:10801050|PMID:11924557|PMID:12955720|PMID:16199547|PMID:16705713|PMID:17047887|PMID:17196294|PMID:17915576|PMID:19299494|PMID:20071996|PMID:20490926|PMID:20526204|PMID:20648714|PMID:22089644|PMID:23430490|PMID:25451950|PMID:25525159|PMID:25741868|PMID:25827695|PMID:26984562|PMID:27106217|PMID:27460348|PMID:27604308|PMID:28492532|PMID:29614965|PMID:31028654|PMID:34134972|PMID:34649782|PMID:8755644|PMID:9490286
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:2748	glycogen storage disease III		ISO	RGD:1314958	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8755644|PMID:8990006|PMID:24700805
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:2748	glycogen storage disease III		ISO	RGD:1314958	D	RGD:1331525|PMID:15118671	19990101	GAD			
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:2748	glycogen storage disease III		ISO	RGD:1314958	D	RGD:7240710	20130221	OMIM			
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:2748	glycogen storage disease III		ISO	RGD:1314958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AGL-related condition | ClinVar Annotator: match by term: Cori disease | ClinVar Annotator: match by term: Glycogen storage disease type III | ClinVar Annotator: match by term: glycogen storage disease III	PMID:10472540|PMID:10571954|PMID:10655153|PMID:10801050|PMID:10925384|PMID:10982190|PMID:11757581|PMID:11924557|PMID:11949933|PMID:11977176|PMID:12442284|PMID:12955720|PMID:15542399|PMID:15833157|PMID:16189622|PMID:16199547|PMID:16705713|PMID:17047887|PMID:17196294|PMID:17576681|PMID:17895567|PMID:17908927|PMID:17994282|PMID:18617770|PMID:18785866|PMID:18924225|PMID:19299494|PMID:19754354|PMID:19763152|PMID:19834502|PMID:19951465|PMID:19951495|PMID:20071996|PMID:20158661|PMID:20301788|PMID:20307669|PMID:20490926|PMID:20648714|PMID:21321962|PMID:21572342|PMID:21691223|PMID:21857385|PMID:22089644|PMID:22406018|PMID:22899091|PMID:23062577|PMID:23207808|PMID:23430490|PMID:23430832|PMID:23430941|PMID:23507172|PMID:23649758|PMID:24033266|PMID:24257475|PMID:24495762|PMID:24824133|PMID:25388549|PMID:25431232|PMID:25451272|PMID:25451950|PMID:25525159|PMID:25602008|PMID:25640679|PMID:25741868|PMID:26704523|PMID:26885414|PMID:26913919|PMID:26924264|PMID:26984562|PMID:27088557|PMID:27106217|PMID:27243974|PMID:27460348|PMID:27604308|PMID:27629047|PMID:28039895|PMID:28074886|PMID:28492532|PMID:28685844|PMID:28888851|PMID:29374762|PMID:29614965|PMID:29794575|PMID:30193751|PMID:30916492|PMID:31028654|PMID:31130284|PMID:31263214|PMID:31319225|PMID:31508908|PMID:31661040|PMID:31980526|PMID:32222031|PMID:32374048|PMID:32528171|PMID:32714838|PMID:32772503|PMID:33083013|PMID:33344388|PMID:33448466|PMID:33763395|PMID:33782433|PMID:34019008|PMID:34134972|PMID:34298581|PMID:34649782|PMID:34820282|PMID:35199448|PMID:35834487|PMID:36105079|PMID:36579437|PMID:38592052|PMID:38623712|PMID:8702417|PMID:8755644|PMID:8990006|PMID:9332391|PMID:9412782|PMID:9536098|PMID:9584265
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:2748	glycogen storage disease III		ISS	RGD:1617454	D	RGD:13592920	20230718	MouseDO		OMIM:232400	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:2748	glycogen storage disease III	susceptibility	ISO	RGD:1314958	D	RGD:1601129|PMID:16705713	20070406	RGD		DNA:missense mutations, frameshift mutations, nonsense mutations: :multiple	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:3070	high grade glioma		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:4676	uremia		IDA		D	RGD:1598784|PMID:807434	20061219	RGD			
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:630	genetic disease		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:19299494|PMID:25741868|PMID:28492532|PMID:9536098
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:9000150	Glycogen Storage Disease IIIA		ISO	RGD:1314958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease IIIa	PMID:10655153|PMID:10982190|PMID:12442284|PMID:16189622|PMID:18924225|PMID:19299494|PMID:19834502|PMID:20490926|PMID:20648714|PMID:22089644|PMID:22899091|PMID:23207808|PMID:25525159|PMID:25741868|PMID:26704523|PMID:26984562|PMID:28492532|PMID:29374762|PMID:29614965|PMID:31263214|PMID:31319225|PMID:31661040|PMID:32714838|PMID:32772503|PMID:33782433|PMID:34820282|PMID:8702417
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314958	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:9002814	Glycogen Storage Disease IIIC		ISO	RGD:1314958	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease IIIc	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:9004482	Glycogen Storage Disease IIIB		ISO	RGD:1314958	D	RGD:1566516|PMID:8755644	19990101	RGD		DNA:mutations:exon:	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:9004482	Glycogen Storage Disease IIIB		ISO	RGD:1314958	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE, TYPE IIIb	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:10655153|PMID:19299494|PMID:20648714|PMID:22899091|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31263214
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:9007661	Dwarfism		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10655153|PMID:19299494|PMID:20648714|PMID:22899091|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31263214
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:9007838	Myocardial Reperfusion Injury		IMP		D	RGD:1598779|PMID:9281456	20061219	RGD			
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: RUNX1-related disorder	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:9849	Meniere's disease		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease	
1306376	Agl	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	gene	DOID:9993	hypoglycemia		ISO	RGD:1314958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hypoglycemia	PMID:25741868
1306377	Alkbh2	alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase	gene	DOID:1115	sarcoma		ISO	RGD:1605008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306377	Alkbh2	alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase	gene	DOID:1909	melanoma		ISO	RGD:1605008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306377	Alkbh2	alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase	gene	DOID:3070	high grade glioma		ISO	RGD:1605008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306377	Alkbh2	alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:10283	prostate cancer		ISO	RGD:1314960	D	RGD:9586733|PMID:22120715	20141003	RGD		mRNA:increased expression:prostate (human)	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314960	D	RGD:9587435|PMID:23603248	20141014	RGD		mRNA:increased expression:urinary bladder (human)	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:1324	lung cancer		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:1324	lung cancer		ISO	RGD:1314960	D	RGD:9587434|PMID:23168260	20141014	RGD		protein:increased expression:lung (human)	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:1612	breast cancer	severity	ISO	RGD:1314960	D	RGD:9586031|PMID:22199269	20141003	RGD		mRNA:altered expression:breast (human)	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:1909	melanoma		ISO	RGD:1314960	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29438700
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:3070	high grade glioma		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:5041	esophageal cancer		ISO	RGD:1314960	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:5517	stomach carcinoma	severity	ISO	RGD:1314960	D	RGD:9587437|PMID:24802408	20141014	RGD		mRNA, protein:increased expression:gastric mucosa (human)	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1314961	D	RGD:9587422|PMID:21555854	20141008	RGD			
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306378	Kdm4a	lysine demethylase 4A	gene	DOID:986	alopecia areata		ISO	RGD:1314960	D	RGD:9587460|PMID:21936853	20141015	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	
1306379	Hs3st5	heparan sulfate-glucosamine 3-sulfotransferase 5	gene	DOID:1909	melanoma		ISO	RGD:1314962	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1306380	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306380	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306380	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:3275	thymoma		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306380	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:50	thyroid gland disease		ISO	RGD:1314963	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23397585
1306380	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306380	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314963	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306380	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306380	Gulp1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1314970	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 1	PMID:25741868
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:0112370	Coffin-Siris syndrome 12		ISO	RGD:1314970	D	RGD:7240710	20210616	OMIM			
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:0112370	Coffin-Siris syndrome 12		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 12 | ClinVar Annotator: match by term: Coffin-Siris syndrome 12	PMID:25741868|PMID:25741870|PMID:33232675|PMID:37500730
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:1059	intellectual disability		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:33232675
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:3275	thymoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1314970	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:33232675
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314970	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33232675
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:33232675
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:9008582	Developmental Disease		ISO	RGD:1314970	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1306385	Bicra	BRD4 interacting chromatin remodeling complex associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306386	Ceacam16	CEA cell adhesion molecule 16, tectorial membrane component	gene	DOID:0110498	autosomal recessive nonsyndromic deafness 4		ISO	RGD:1603834	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 4	PMID:25741868|PMID:26467025|PMID:28492532|PMID:33111345
1306386	Ceacam16	CEA cell adhesion molecule 16, tectorial membrane component	gene	DOID:0110573	autosomal dominant nonsyndromic deafness 4A		ISS	RGD:1621965	D	RGD:13592920	20180518	MouseDO		OMIM:600652	
1306386	Ceacam16	CEA cell adhesion molecule 16, tectorial membrane component	gene	DOID:0110574	autosomal dominant nonsyndromic deafness 4B		ISO	RGD:1603834	D	RGD:7240710	20140911	OMIM			
1306386	Ceacam16	CEA cell adhesion molecule 16, tectorial membrane component	gene	DOID:0111636	autosomal recessive nonsyndromic deafness 113		ISO	RGD:1603834	D	RGD:7240710	20190515	OMIM			
1306387	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306387	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306387	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:1909	melanoma		ISO	RGD:1314973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306387	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306387	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306387	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306387	Mrpl18	mitochondrial ribosomal protein L18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306388	Klhl2	kelch-like family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306388	Klhl2	kelch-like family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306388	Klhl2	kelch-like family member 2	gene	DOID:1909	melanoma		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306388	Klhl2	kelch-like family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306388	Klhl2	kelch-like family member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306388	Klhl2	kelch-like family member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306388	Klhl2	kelch-like family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306388	Klhl2	kelch-like family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306388	Klhl2	kelch-like family member 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306388	Klhl2	kelch-like family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306388	Klhl2	kelch-like family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306388	Klhl2	kelch-like family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306389	Foxn4	forkhead box N4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306389	Foxn4	forkhead box N4	gene	DOID:5041	esophageal cancer		ISO	RGD:1314977	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306389	Foxn4	forkhead box N4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306390	Cab39	calcium binding protein 39	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306390	Cab39	calcium binding protein 39	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306390	Cab39	calcium binding protein 39	gene	DOID:1115	sarcoma		ISO	RGD:1314979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306390	Cab39	calcium binding protein 39	gene	DOID:1324	lung cancer		ISO	RGD:1314979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306390	Cab39	calcium binding protein 39	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:14398833|PMID:27798271	20190503	RGD		protein:increased expression:brain	
1306390	Cab39	calcium binding protein 39	gene	DOID:4362	cervical cancer		ISO	RGD:1314979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306390	Cab39	calcium binding protein 39	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306390	Cab39	calcium binding protein 39	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314979	D	RGD:14398832|PMID:28605041	20190503	RGD			
1306390	Cab39	calcium binding protein 39	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1314979	D	RGD:14398832|PMID:28605041	20190503	RGD			
1306390	Cab39	calcium binding protein 39	gene	DOID:7998	hyperthyroidism		IEP		D	RGD:10059691|PMID:18669938	20190506	RGD		mRNA,protein:increased expression:muscle:	
1306390	Cab39	calcium binding protein 39	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1314979	D	RGD:14398832|PMID:28605041	20190503	RGD		associated with hepatocellular carcinoma;	
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:0111472	combined oxidative phosphorylation deficiency 9		ISO	RGD:1314981	D	RGD:7240710	20140903	OMIM			
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:0111472	combined oxidative phosphorylation deficiency 9		ISO	RGD:1314981	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 | ClinVar Annotator: match by term: Combined oxidative phosphorylation defect type 9 | ClinVar Annotator: match by term: MRPL3-related condition	PMID:25741868|PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:10534	stomach cancer		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:1115	sarcoma		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:11830	myopia		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:12849	autistic disorder		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:1324	lung cancer		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:1596	depressive disorder		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:2030	anxiety disorder		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:2841	asthma		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:3087	gingivitis		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:4362	cervical cancer		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314981	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:9001733	Tinnitus		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:9003126	Hallucinations		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:9003539	Hyperacusis		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:9005077	Joint Instability		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:9008023	Memory Disorders		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:9256	colorectal cancer		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:936	brain disease		ISO	RGD:1314981	D	RGD:8554872	20230502	ClinVar		ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:9834	hyperopia		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1306391	Mrpl3	mitochondrial ribosomal protein L3	gene	DOID:9970	obesity		ISO	RGD:1314981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:10534	stomach cancer		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:1115	sarcoma		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:3082	interstitial lung disease		ISO	RGD:1314983	D	RGD:631734365|PMID:32686186	20260127	RGD		associated with diffuse scleroderma; protein:increased expression:dermis	
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:4362	cervical cancer		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:5041	esophageal cancer		ISO	RGD:1314983	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:6039	uveal melanoma		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	IEP		D	RGD:151665755|PMID:30346985	20220331	RGD			
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314983	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17603628
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:9005487	Candidiasis, Familial, 9		ISO	RGD:1314983	D	RGD:7240710	20170301	OMIM			
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:9005487	Candidiasis, Familial, 9		ISO	RGD:1314983	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 9 | ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition	PMID:16199547|PMID:17576681|PMID:25741868|PMID:25918342|PMID:28492532|PMID:37395078|PMID:9536098
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306392	Il17rc	interleukin 17 receptor C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:0050581	brachydactyly		ISO	RGD:1604032	D	RGD:8554872	20170207	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604032	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:0060260	ptosis		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:15146186|PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Septo-optic dysplasia sequence	PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:0080006	bone development disease		ISO	RGD:1604032	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19763162
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:0080418	developmental and epileptic encephalopathy 54		ISO	RGD:1604032	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54	PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:0080505	Cornelia de Lange syndrome 1		ISO	RGD:1604032	D	RGD:7240710	20190424	OMIM			
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:0080505	Cornelia de Lange syndrome 1		ISO	RGD:1604032	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CORNELIA DE LANGE SYNDROME 1 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar Annotator: match by term: NIPBL-related condition	PMID:15146185|PMID:15146186|PMID:15318302|PMID:15591270|PMID:15723327|PMID:16100726|PMID:16199547|PMID:16236812|PMID:16757948|PMID:16958143|PMID:17106445|PMID:17221863|PMID:17352659|PMID:17576681|PMID:17661813|PMID:18414213|PMID:19763162|PMID:20052760|PMID:20301283|PMID:20358602|PMID:20583156|PMID:20824775|PMID:21934712|PMID:22581668|PMID:22857006|PMID:23254390|PMID:23304577|PMID:23313159|PMID:23505322|PMID:24038889|PMID:24145515|PMID:24189319|PMID:24218399|PMID:24635725|PMID:24689074|PMID:24759409|PMID:24874887|PMID:24918291|PMID:25125236|PMID:25447906|PMID:25574841|PMID:25640679|PMID:25741868|PMID:25996639|PMID:26467025|PMID:26701315|PMID:26725122|PMID:26925417|PMID:26938784|PMID:28425213|PMID:28492532|PMID:29155047|PMID:29620724|PMID:29764576|PMID:29995837|PMID:30029678|PMID:30057591|PMID:30158690|PMID:30614194|PMID:30692697|PMID:31019026|PMID:31157197|PMID:31337854|PMID:31515788|PMID:32005694|PMID:32033219|PMID:32074972|PMID:32333414|PMID:32433956|PMID:33057194|PMID:33323490|PMID:34008892|PMID:34411415|PMID:34717699|PMID:35476527|PMID:35769956|PMID:35982159|PMID:36307859|PMID:36658419|PMID:37377026|PMID:38735830|PMID:9536098
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:0080505	Cornelia de Lange syndrome 1		ISS	RGD:1550472	D	RGD:13592920	20230718	MouseDO		OMIM:122470	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:0090020	split hand-foot malformation		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectrodactyly	PMID:15318302|PMID:19763162|PMID:23505322|PMID:25741868|PMID:28492532|PMID:29995837|PMID:30692697|PMID:34411415
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:15318302|PMID:18414213|PMID:20583156|PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:10534	stomach cancer		ISO	RGD:1604032	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:18414213|PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:1059	intellectual disability		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mental retardation	PMID:15146186|PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:10907	microcephaly		ISO	RGD:1604032	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:15146186|PMID:15318302|PMID:18414213|PMID:23505322|PMID:24038889|PMID:25741868|PMID:26938784|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:15318302|PMID:18414213|PMID:20583156|PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:1115	sarcoma		ISO	RGD:1604032	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:11383	cryptorchidism		ISO	RGD:1604032	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:15146186|PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:11725	Cornelia de Lange syndrome		ISO	RGD:1550472	D	RGD:155630598|PMID:19763162	20221024	RGD			
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:11725	Cornelia de Lange syndrome		ISO	RGD:1604032	D	RGD:11554173	20180410	CTD		CTD Direct Evidence: marker/mechanism	PMID:19763162|PMID:19886366|PMID:29379197
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:11725	Cornelia de Lange syndrome		ISO	RGD:1604032	D	RGD:155630599|PMID:22353942	20221024	RGD		DNA:mutations:cds:	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:11725	Cornelia de Lange syndrome		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachmann de Lange syndrome | ClinVar Annotator: match by term: Cornelia de Lange Syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome | ClinVar Annotator: match by term: Typus degenerativus amstelodamensis	PMID:15146185|PMID:15146186|PMID:15318302|PMID:18414213|PMID:19763162|PMID:23505322|PMID:25125236|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29995837|PMID:30692697|PMID:31337854|PMID:32033219|PMID:34411415
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:11725	Cornelia de Lange syndrome	severity	ISO	RGD:1604032	D	RGD:155630600|PMID:27125329	20221024	RGD		DNA:mutations:cds:	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:12215	oligohydramnios		ISO	RGD:1604032	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:15318302|PMID:18414213|PMID:23505322|PMID:24038889|PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:12270	coloboma		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:12712	nephronophthisis		ISO	RGD:1604032	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:1324	lung cancer		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:1324	lung cancer		ISO	RGD:1604032	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:1682	congenital heart disease		ISO	RGD:1604032	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19763162
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:1826	epilepsy		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:15146185|PMID:15146186|PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:1909	melanoma		ISO	RGD:1604032	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:2030	anxiety disorder		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: anxiety	PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1604032	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:15318302|PMID:18414213|PMID:23505322|PMID:24038889|PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:2355	anemia		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25125236|PMID:25741868|PMID:32033219
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:2394	ovarian cancer		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:255	hemangioma		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25125236|PMID:25741868|PMID:32033219
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:3070	high grade glioma		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:3081	cystic lymphangioma		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	PMID:15318302|PMID:19763162|PMID:23505322|PMID:25741868|PMID:28492532|PMID:29995837|PMID:30692697|PMID:34411415
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:3275	thymoma		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:4362	cervical cancer		ISO	RGD:1604032	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1604032	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:540	strabismus		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604032	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:630	genetic disease		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15146185|PMID:15146186|PMID:15318302|PMID:18414213|PMID:19763162|PMID:20358602|PMID:20583156|PMID:22857006|PMID:23254390|PMID:23505322|PMID:25125236|PMID:25741868|PMID:26467025|PMID:26701315|PMID:26925417|PMID:28492532|PMID:28518168|PMID:29995837|PMID:30692697|PMID:32005694|PMID:32033219|PMID:32461654|PMID:34411415|PMID:34958143
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:630	genetic disease		ISO	RGD:1604032	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15146185|PMID:15146186|PMID:15318302|PMID:18414213|PMID:19763162|PMID:20358602|PMID:20583156|PMID:22857006|PMID:23254390|PMID:23505322|PMID:24038889|PMID:25125236|PMID:25741868|PMID:26701315|PMID:28492532|PMID:28518168|PMID:29995837|PMID:30692697|PMID:32005694|PMID:32033219|PMID:32461654|PMID:34411415|PMID:34958143
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1604032	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:15318302|PMID:18414213|PMID:23505322|PMID:24038889|PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:674	cleft palate		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:15146185|PMID:15146186|PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9000343	Vision Disorders		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:15146186|PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9000660	Choristoma		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectopic tissue	PMID:15146185|PMID:15146186|PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9000892	Fetal Distress		ISO	RGD:1604032	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fetal distress	PMID:15318302|PMID:18414213|PMID:23505322|PMID:24038889|PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604032	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25125236|PMID:25741868|PMID:32033219
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9001581	Constipation		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:15318302|PMID:18414213|PMID:20583156|PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9002500	Hearing Disorders		ISO	RGD:1604032	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19763162
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9003507	Premature Birth		ISO	RGD:1604032	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:15318302|PMID:18414213|PMID:23505322|PMID:24038889|PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9004108	Fused Kidney		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:30311386
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:1604032	D	RGD:11554173	20230117	CTD		CTD Direct Evidence: marker/mechanism	PMID:35435490
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1604032	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9004507	Hirsutism		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:15146186|PMID:25741868|PMID:26938784
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:15318302|PMID:15591270|PMID:16199547|PMID:18414213|PMID:19763162|PMID:22581668|PMID:23505322|PMID:25574841|PMID:25741868|PMID:28492532|PMID:29995837
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:15146185|PMID:15146186|PMID:25741868
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9005616	Micrognathism		ISO	RGD:1604032	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:15146185|PMID:15146186|PMID:15318302|PMID:18414213|PMID:23505322|PMID:24038889|PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1604032	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26938784
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:15146185|PMID:15146186|PMID:15318302|PMID:16199547|PMID:18414213|PMID:19763162|PMID:23505322|PMID:25574841|PMID:25741868|PMID:28492532|PMID:28588001|PMID:29159939|PMID:29995837|PMID:32037394
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9008689	Facial Hypertrichosis		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypertrichosis	PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1604032	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19763162
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:25741868|PMID:28492532
1306393	Nipbl	NIPBL, cohesin loading factor	gene	DOID:9840	esotropia		ISO	RGD:1604032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esodeviation | ClinVar Annotator: match by term: Esotropia	PMID:15146185|PMID:15146186|PMID:25741868|PMID:28492532
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:1115	sarcoma		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:1909	melanoma		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1314985	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:3275	thymoma		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314985	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306394	Mdn1	midasin AAA ATPase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306395	Marchf2	membrane associated ring-CH-type finger 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306395	Marchf2	membrane associated ring-CH-type finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306395	Marchf2	membrane associated ring-CH-type finger 2	gene	DOID:1115	sarcoma		ISO	RGD:1351107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306395	Marchf2	membrane associated ring-CH-type finger 2	gene	DOID:1909	melanoma		ISO	RGD:1351107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306395	Marchf2	membrane associated ring-CH-type finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306397	Cpsf4l	cleavage and polyadenylation specific factor 4-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2290025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306397	Cpsf4l	cleavage and polyadenylation specific factor 4-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2290025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306397	Cpsf4l	cleavage and polyadenylation specific factor 4-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2290025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306397	Cpsf4l	cleavage and polyadenylation specific factor 4-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2290025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306401	Cnot8	CCR4-NOT transcription complex, subunit 8	gene	DOID:10534	stomach cancer		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306401	Cnot8	CCR4-NOT transcription complex, subunit 8	gene	DOID:1115	sarcoma		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306401	Cnot8	CCR4-NOT transcription complex, subunit 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306401	Cnot8	CCR4-NOT transcription complex, subunit 8	gene	DOID:4362	cervical cancer		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306401	Cnot8	CCR4-NOT transcription complex, subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306401	Cnot8	CCR4-NOT transcription complex, subunit 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306401	Cnot8	CCR4-NOT transcription complex, subunit 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306401	Cnot8	CCR4-NOT transcription complex, subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306401	Cnot8	CCR4-NOT transcription complex, subunit 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306402	Pus10	pseudouridine synthase 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306402	Pus10	pseudouridine synthase 10	gene	DOID:10534	stomach cancer		ISO	RGD:1606697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306402	Pus10	pseudouridine synthase 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306402	Pus10	pseudouridine synthase 10	gene	DOID:1115	sarcoma		ISO	RGD:1606697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306402	Pus10	pseudouridine synthase 10	gene	DOID:1324	lung cancer		ISO	RGD:1606697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306402	Pus10	pseudouridine synthase 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306402	Pus10	pseudouridine synthase 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1606697	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306402	Pus10	pseudouridine synthase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306402	Pus10	pseudouridine synthase 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306402	Pus10	pseudouridine synthase 10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306402	Pus10	pseudouridine synthase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306402	Pus10	pseudouridine synthase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306403	Pdcd1lg2	programmed cell death 1 ligand 2	gene	DOID:1731	histoplasmosis		ISO	RGD:1552436	D	RGD:40822806|PMID:18268348	20201130	RGD		protein:increased expression:macrophage, dendritic cell	
1306403	Pdcd1lg2	programmed cell death 1 ligand 2	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1552436	D	RGD:41412171|PMID:19781375	20210219	RGD			
1306403	Pdcd1lg2	programmed cell death 1 ligand 2	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1314998	D	RGD:40818418|PMID:23661793	20201120	RGD		protein:increased expression:Tcell, B cell, monocyte	
1306403	Pdcd1lg2	programmed cell death 1 ligand 2	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:40886268|PMID:29665726	20201203	RGD		mRNA:increased expression:microglial cell	
1306403	Pdcd1lg2	programmed cell death 1 ligand 2	gene	DOID:9000220	Coxsackievirus Infections	treatment	ISO	RGD:1552436	D	RGD:40818421|PMID:30904424	20201120	RGD			
1306403	Pdcd1lg2	programmed cell death 1 ligand 2	gene	DOID:9004484	Sepsis		ISO	RGD:1314998	D	RGD:40818424|PMID:29661225	20201123	RGD		protein:increased expression:CD27B cell	
1306403	Pdcd1lg2	programmed cell death 1 ligand 2	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1552436	D	RGD:41410801|PMID:16358363	20210215	RGD			
1306404	Chpf2	chondroitin polymerizing factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306404	Chpf2	chondroitin polymerizing factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306404	Chpf2	chondroitin polymerizing factor 2	gene	DOID:1909	melanoma		ISO	RGD:1604004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306404	Chpf2	chondroitin polymerizing factor 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306404	Chpf2	chondroitin polymerizing factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306404	Chpf2	chondroitin polymerizing factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306404	Chpf2	chondroitin polymerizing factor 2	gene	DOID:630	genetic disease		ISO	RGD:1604004	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306405	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306405	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306405	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:1324	lung cancer		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306405	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1306405	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306405	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306405	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306405	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306405	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:9000058	Keloid		ISO	RGD:1347516	D	RGD:8554872	20180123	ClinVar		ClinVar Annotator: match by term: Keloid formation	PMID:28905881
1306405	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306405	Agpat5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:1909	melanoma		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315001	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315001	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:9000382	Myopia 27		ISO	RGD:1315001	D	RGD:7240710	20200408	OMIM			
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:9000382	Myopia 27		ISO	RGD:1315001	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: CPSF1-related condition | ClinVar Annotator: match by term: MYOPIA 27 | ClinVar Annotator: match by term: Myopia 27 | ClinVar Annotator: match by term: myopia 27	PMID:25741868|PMID:28492532|PMID:30689892
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1315001	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1306406	Cpsf1	cleavage and polyadenylation specific factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1315001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306407	Isg20	interferon stimulated exonuclease gene 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306407	Isg20	interferon stimulated exonuclease gene 20	gene	DOID:10534	stomach cancer		ISO	RGD:1315002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306407	Isg20	interferon stimulated exonuclease gene 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1315002	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306407	Isg20	interferon stimulated exonuclease gene 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306407	Isg20	interferon stimulated exonuclease gene 20	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315002	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306408	Elmod3	ELMO domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306408	Elmod3	ELMO domain containing 3	gene	DOID:0060058	lymphoma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306408	Elmod3	ELMO domain containing 3	gene	DOID:0060794	hypomyelinating leukodystrophy 7		ISO	RGD:1353080	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION	PMID:24039609|PMID:25326637
1306408	Elmod3	ELMO domain containing 3	gene	DOID:0070608	autosomal dominant nonsyndromic deafness 81		ISO	RGD:1353080	D	RGD:7240710	20210908	OMIM			
1306408	Elmod3	ELMO domain containing 3	gene	DOID:0070608	autosomal dominant nonsyndromic deafness 81		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 81 | ClinVar Annotator: match by term: ELMOD3-related condition	PMID:25741868|PMID:26467025|PMID:28492532
1306408	Elmod3	ELMO domain containing 3	gene	DOID:0110533	autosomal recessive nonsyndromic deafness 88		ISO	RGD:1353080	D	RGD:7240710	20140911	OMIM			
1306408	Elmod3	ELMO domain containing 3	gene	DOID:0110533	autosomal recessive nonsyndromic deafness 88		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 88	PMID:25741868|PMID:28492532
1306408	Elmod3	ELMO domain containing 3	gene	DOID:0110533	autosomal recessive nonsyndromic deafness 88		ISS	RGD:1558565	D	RGD:13592920	20230718	MouseDO		OMIM:615429	
1306408	Elmod3	ELMO domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
1306408	Elmod3	ELMO domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:26467025|PMID:28492532
1306408	Elmod3	ELMO domain containing 3	gene	DOID:12849	autistic disorder		ISO	RGD:1353080	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism	
1306408	Elmod3	ELMO domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306408	Elmod3	ELMO domain containing 3	gene	DOID:3070	high grade glioma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306408	Elmod3	ELMO domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
1306408	Elmod3	ELMO domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532
1306408	Elmod3	ELMO domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1353080	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28492532
1306408	Elmod3	ELMO domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306408	Elmod3	ELMO domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1306408	Elmod3	ELMO domain containing 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1306408	Elmod3	ELMO domain containing 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:26467025|PMID:28492532
1306408	Elmod3	ELMO domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306408	Elmod3	ELMO domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
1306408	Elmod3	ELMO domain containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306410	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306410	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315007	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306410	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:0060058	lymphoma		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306410	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:10534	stomach cancer		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306410	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306410	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:1115	sarcoma		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306410	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306410	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306410	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:4362	cervical cancer		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306410	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:5041	esophageal cancer		ISO	RGD:1315007	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306410	Ccz1	CCZ1 vacuolar protein trafficking and biogenesis associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306411	Wtip	WT1 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1343375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306411	Wtip	WT1 interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306411	Wtip	WT1 interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1343375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306411	Wtip	WT1 interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306411	Wtip	WT1 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306413	Pop7	POP7 ribonuclease P/MRP subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306413	Pop7	POP7 ribonuclease P/MRP subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315012	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315012	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315012	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1315012	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:1909	melanoma		ISO	RGD:1315012	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:3275	thymoma		ISO	RGD:1315012	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315012	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315012	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315012	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1315012	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315012	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315012	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306414	Asb2	ankyrin repeat and SOCS box-containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306415	Med20	mediator complex subunit 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1606323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306416	Epn3	epsin 3	gene	DOID:0060642	recessive dystrophic epidermolysis bullosa		ISO	RGD:1315016	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: recessive dystrophic epidermolysis bullosa	PMID:25741868
1306416	Epn3	epsin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315016	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306416	Epn3	epsin 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306416	Epn3	epsin 3	gene	DOID:1324	lung cancer		ISO	RGD:1315016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306416	Epn3	epsin 3	gene	DOID:3275	thymoma		ISO	RGD:1315016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306416	Epn3	epsin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306416	Epn3	epsin 3	gene	DOID:9775	diastolic heart failure		ISO	RGD:1315016	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:1909	melanoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1315020	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306418	Rasef	RAS and EF hand domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1315023	D	RGD:13592920	20210909	MouseDO			
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:0081212	autosomal recessive intellectual developmental disorder 48		ISO	RGD:1315022	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	PMID:25741868
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:0081220	autosomal recessive intellectual developmental disorder 58		ISO	RGD:1315022	D	RGD:7240710	20190315	OMIM			
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:0081220	autosomal recessive intellectual developmental disorder 58		ISO	RGD:1315022	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ELP2-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58	PMID:25741868|PMID:28492532
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:1315022	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:1315022	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound	PMID:25741868
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:1315022	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability, profound	PMID:21937992|PMID:25356970|PMID:25741868|PMID:25847581|PMID:28492532|PMID:28726809|PMID:32573669|PMID:33393008|PMID:33510603|PMID:33976153|PMID:34653680
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:1059	intellectual disability		ISS	RGD:1315023	D	RGD:13592920	20230718	MouseDO			
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:12849	autistic disorder		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:2841	asthma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315022	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1315022	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306419	Elp2	elongator acetyltransferase complex subunit 2	gene	DOID:9834	hyperopia		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25847581|PMID:33976153
1306420	Klk7	kallikrein-related peptidase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306420	Klk7	kallikrein-related peptidase 7	gene	DOID:1324	lung cancer		ISO	RGD:1315024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306420	Klk7	kallikrein-related peptidase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306420	Klk7	kallikrein-related peptidase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306421	Tmem39a	transmembrane protein 39a	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306421	Tmem39a	transmembrane protein 39a	gene	DOID:10534	stomach cancer		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306421	Tmem39a	transmembrane protein 39a	gene	DOID:1115	sarcoma		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306421	Tmem39a	transmembrane protein 39a	gene	DOID:1324	lung cancer		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306421	Tmem39a	transmembrane protein 39a	gene	DOID:1909	melanoma		ISO	RGD:1353039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306421	Tmem39a	transmembrane protein 39a	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306421	Tmem39a	transmembrane protein 39a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306421	Tmem39a	transmembrane protein 39a	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306421	Tmem39a	transmembrane protein 39a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306421	Tmem39a	transmembrane protein 39a	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:10534	stomach cancer		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:12556	acute kidney tubular necrosis		ISO	RGD:1315027	D	RGD:11554173	20200310	CTD		CTD Direct Evidence: marker/mechanism	PMID:31825490
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:3021	acute kidney failure		ISO	RGD:1315027	D	RGD:11554173	20200310	CTD		CTD Direct Evidence: marker/mechanism	PMID:31825490
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:3070	high grade glioma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:4362	cervical cancer		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1315027	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:5844	myocardial infarction		ISO	RGD:1315027	D	RGD:8554872	20141009	ClinVar		ClinVar Annotator: match by term: Myocardial infarction, susceptibility to, 1	PMID:24213632
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315027	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:9000918	Disease Progression		ISO	RGD:1315027	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306422	Cct7	chaperonin containing TCP1 subunit 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306423	Dtwd2	DTW motif tRNA-uridine aminocarboxypropyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306423	Dtwd2	DTW motif tRNA-uridine aminocarboxypropyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306423	Dtwd2	DTW motif tRNA-uridine aminocarboxypropyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604482	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306423	Dtwd2	DTW motif tRNA-uridine aminocarboxypropyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306423	Dtwd2	DTW motif tRNA-uridine aminocarboxypropyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306424	Snx17	sorting nexin 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306424	Snx17	sorting nexin 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306424	Snx17	sorting nexin 17	gene	DOID:0060058	lymphoma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306424	Snx17	sorting nexin 17	gene	DOID:1115	sarcoma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306424	Snx17	sorting nexin 17	gene	DOID:1324	lung cancer		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306424	Snx17	sorting nexin 17	gene	DOID:1909	melanoma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306424	Snx17	sorting nexin 17	gene	DOID:2394	ovarian cancer		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306424	Snx17	sorting nexin 17	gene	DOID:4362	cervical cancer		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306424	Snx17	sorting nexin 17	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306424	Snx17	sorting nexin 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1315030	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306424	Snx17	sorting nexin 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306424	Snx17	sorting nexin 17	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306424	Snx17	sorting nexin 17	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306424	Snx17	sorting nexin 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306424	Snx17	sorting nexin 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306424	Snx17	sorting nexin 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1315034	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20526721
1306426	Ca9	carbonic anhydrase 9	gene	DOID:0060081	triple-negative breast cancer		ISO	RGD:1315034	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Triple-negative breast cancer	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:1315034	D	RGD:2298945|PMID:17452774	20080804	RGD		protein:altered localization:membrane, endometrium	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:1315034	D	RGD:11554173	20260407	CTD		CTD Direct Evidence: marker/mechanism	PMID:17157168
1306426	Ca9	carbonic anhydrase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1315034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1315034	D	RGD:2293197|PMID:14520462	20080521	RGD			
1306426	Ca9	carbonic anhydrase 9	gene	DOID:1115	sarcoma		ISO	RGD:1315034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:1324	lung cancer		ISO	RGD:1315034	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:1909	melanoma		ISO	RGD:1315034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:1315034	D	RGD:40903057|PMID:32297155	20210107	RGD		DNA:SNP::rs2071676(human)	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1315034	D	RGD:2298947|PMID:15069539	20080804	RGD			
1306426	Ca9	carbonic anhydrase 9	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1315034	D	RGD:2293195|PMID:17245699	20080521	RGD			
1306426	Ca9	carbonic anhydrase 9	gene	DOID:3883	Lynch syndrome		ISO	RGD:1315034	D	RGD:155226867|PMID:17855694	20220916	RGD		protein:increased expression:colorectum	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1315034	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30381462
1306426	Ca9	carbonic anhydrase 9	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1315034	D	RGD:155226863|PMID:23910904	20220916	RGD			
1306426	Ca9	carbonic anhydrase 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1315034	D	RGD:2293198|PMID:12966427	20080521	RGD		protein:increased expression:serum, urine	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1315034	D	RGD:2293199|PMID:12883698	20080521	RGD			
1306426	Ca9	carbonic anhydrase 9	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1315034	D	RGD:2293201|PMID:11506497	20080521	RGD		DNA, mRNA:hypomethylation, increased expression:promoter, kidney	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1315034	D	RGD:2293191|PMID:18464292	20080520	RGD			
1306426	Ca9	carbonic anhydrase 9	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1315034	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20110409
1306426	Ca9	carbonic anhydrase 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315034	D	RGD:155226869|PMID:29900055	20220916	RGD		mRNA:altered expression:liver	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1315034	D	RGD:2293196|PMID:17233814	20080521	RGD		associated with Cervix Neoplasms	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:9000156	Metaplasia		ISO	RGD:1315034	D	RGD:2298946|PMID:17429140	20080804	RGD		protein:altered localization:membrane, endometrium	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:9000784	Fibrosis		ISO	RGD:1315034	D	RGD:2293190|PMID:18483361	20080520	RGD		associated with Breast Neoplasms;mRNA:increased expression:breast	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:9002141	Anaplasia		ISO	RGD:1315034	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19808899
1306426	Ca9	carbonic anhydrase 9	gene	DOID:9002669	Hypoxia		ISO	RGD:1315034	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16954440
1306426	Ca9	carbonic anhydrase 9	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1315034	D	RGD:2293200|PMID:12687273	20080521	RGD			
1306426	Ca9	carbonic anhydrase 9	gene	DOID:9003373	Uterine Cervical Neoplasms	treatment	ISO	RGD:1315034	D	RGD:2293193|PMID:17308115	20080521	RGD			
1306426	Ca9	carbonic anhydrase 9	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:1315034	D	RGD:2298945|PMID:17452774	20080804	RGD		protein:altered localization:membrane, endometrium	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:9005233	Experimental Mammary Neoplasms		IEP		D	RGD:2293194|PMID:17280655	20080521	RGD			
1306426	Ca9	carbonic anhydrase 9	gene	DOID:9006102	Right Ventricular Hypertrophy		IEP		D	RGD:2293204|PMID:16714773	20080521	RGD		associated with Anoxia;protein:increased expression:heart right ventricle	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1315034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Triple-negative breast cancer	
1306426	Ca9	carbonic anhydrase 9	gene	DOID:9008138	Ductal Carcinoma		ISO	RGD:1315034	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20526721
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315036	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252227
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1315036	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:10534	stomach cancer		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:1115	sarcoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:1324	lung cancer		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:1909	melanoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma		IEP		D	RGD:4892278|PMID:17967935	20110216	RGD		protein:increased expression:bronchus	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma		ISO	RGD:1315036	D	RGD:1331525|PMID:15118671	19990101	GAD			
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma		ISO	RGD:1315036	D	RGD:4889866|PMID:21103062	20110216	RGD		DNA:SNPs (human)	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma		ISO	RGD:1315036	D	RGD:4892276|PMID:14566338	20110216	RGD		DNA:SNP:exon (human)	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma		ISO	RGD:1315036	D	RGD:645238736|PMID:19910028	20260430	RGD		DNA:SNP: :rs1435879	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma	no_association	ISO	RGD:1315036	D	RGD:4892275|PMID:19672052	20110216	RGD		DNA:SNPs: :multiple	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:3275	thymoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:5419	schizophrenia		ISO	RGD:1315036	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1315036	D	RGD:4892274|PMID:19951440	20110216	RGD			
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1315036	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306427	Dpp10	dipeptidyl peptidase like 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306428	Polr3f	RNA polymerase III subunit F	gene	DOID:0061071	immunodeficiency 101		ISO	RGD:1315038	D	RGD:7240710	20220629	OMIM			
1306428	Polr3f	RNA polymerase III subunit F	gene	DOID:0061071	immunodeficiency 101		ISO	RGD:1315038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 101 (varicella zoster virus-specific)	PMID:25741868
1306428	Polr3f	RNA polymerase III subunit F	gene	DOID:4362	cervical cancer		ISO	RGD:1315038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306428	Polr3f	RNA polymerase III subunit F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306428	Polr3f	RNA polymerase III subunit F	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306428	Polr3f	RNA polymerase III subunit F	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306428	Polr3f	RNA polymerase III subunit F	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306429	Wdr73	WD repeat domain 73	gene	DOID:0060364	Galloway-Mowat syndrome 1		ISO	RGD:1602852	D	RGD:7240710	20190313	OMIM			
1306429	Wdr73	WD repeat domain 73	gene	DOID:0060364	Galloway-Mowat syndrome 1		ISO	RGD:1602852	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 1 | ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition	PMID:25466283|PMID:25741868|PMID:25873735|PMID:26070982|PMID:26123727|PMID:27001912|PMID:28492532|PMID:29127259|PMID:31130284|PMID:36413997
1306429	Wdr73	WD repeat domain 73	gene	DOID:0080694	Galloway-Mowat syndrome		ISO	RGD:1602852	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25466283
1306429	Wdr73	WD repeat domain 73	gene	DOID:0080694	Galloway-Mowat syndrome		ISO	RGD:1602852	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Galloway-Mowat syndrome	PMID:25741868
1306429	Wdr73	WD repeat domain 73	gene	DOID:10534	stomach cancer		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532|PMID:31130284
1306429	Wdr73	WD repeat domain 73	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306429	Wdr73	WD repeat domain 73	gene	DOID:1115	sarcoma		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306429	Wdr73	WD repeat domain 73	gene	DOID:1909	melanoma		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306429	Wdr73	WD repeat domain 73	gene	DOID:4362	cervical cancer		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532|PMID:31130284
1306429	Wdr73	WD repeat domain 73	gene	DOID:543	dystonia		ISO	RGD:1602852	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:32581362
1306429	Wdr73	WD repeat domain 73	gene	DOID:630	genetic disease		ISO	RGD:1602852	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25466283|PMID:25741868|PMID:25873735|PMID:25954003|PMID:26123727|PMID:27618451|PMID:28490743|PMID:28492532|PMID:36413997|PMID:9536098
1306429	Wdr73	WD repeat domain 73	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306429	Wdr73	WD repeat domain 73	gene	DOID:784	chronic kidney disease		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: chronic kidney disease	PMID:25741868|PMID:28492532
1306429	Wdr73	WD repeat domain 73	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306429	Wdr73	WD repeat domain 73	gene	DOID:9008675	Dyskinesias		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:32581362
1306429	Wdr73	WD repeat domain 73	gene	DOID:9008739	Athetosis		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Athetosis	PMID:25741868
1306429	Wdr73	WD repeat domain 73	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306433	Bcdin3d	BCDIN3 domain containing RNA methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:0111694	familial adult myoclonic epilepsy 7		ISO	RGD:1315047	D	RGD:7240710	20190315	OMIM			
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:0111694	familial adult myoclonic epilepsy 7		ISO	RGD:1315047	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7	PMID:25741868
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1315047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1315047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:1909	melanoma		ISO	RGD:1315047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:3070	high grade glioma		ISO	RGD:1315047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1315047	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29507423
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306434	Rapgef2	Rap guanine nucleotide exchange factor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1315047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:0060058	lymphoma		ISO	RGD:1315050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:0080410	familial adenomatous polyposis 2		ISO	RGD:1315050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial adenomatous polyposis 2	
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:1115	sarcoma		ISO	RGD:1315050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:1793	pancreatic cancer		ISO	RGD:1315050	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:31406347
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:1793	pancreatic cancer		ISO	RGD:1315050	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 5 | ClinVar Annotator: match by term: RABL3-related condition	
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:1315050	D	RGD:7240710	20191211	OMIM			
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:3275	thymoma		ISO	RGD:1315050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1315050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306436	Rabl3	RAB, member of RAS oncogene family-like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306437	Spryd7	SPRY domain containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306437	Spryd7	SPRY domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1315052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306437	Spryd7	SPRY domain containing 7	gene	DOID:1909	melanoma		ISO	RGD:1315052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306437	Spryd7	SPRY domain containing 7	gene	DOID:3275	thymoma		ISO	RGD:1315052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306437	Spryd7	SPRY domain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306437	Spryd7	SPRY domain containing 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306437	Spryd7	SPRY domain containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306438	Tent2	terminal nucleotidyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306438	Tent2	terminal nucleotidyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306438	Tent2	terminal nucleotidyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306438	Tent2	terminal nucleotidyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306438	Tent2	terminal nucleotidyltransferase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306438	Tent2	terminal nucleotidyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306438	Tent2	terminal nucleotidyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315054	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306438	Tent2	terminal nucleotidyltransferase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306438	Tent2	terminal nucleotidyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306438	Tent2	terminal nucleotidyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306438	Tent2	terminal nucleotidyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:1315056	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 1	PMID:25741868
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:1909	melanoma		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:3275	thymoma		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315056	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306439	Adamtsl1	ADAMTS-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306440	Sh3yl1	SH3 and SYLF domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306440	Sh3yl1	SH3 and SYLF domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306440	Sh3yl1	SH3 and SYLF domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306440	Sh3yl1	SH3 and SYLF domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306440	Sh3yl1	SH3 and SYLF domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306440	Sh3yl1	SH3 and SYLF domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315058	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306440	Sh3yl1	SH3 and SYLF domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306440	Sh3yl1	SH3 and SYLF domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306440	Sh3yl1	SH3 and SYLF domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306440	Sh3yl1	SH3 and SYLF domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:0050459	hyperphosphatemia		ISO	RGD:1315063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17710231
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:0050459	hyperphosphatemia		ISO	RGD:1315063	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: GALNT3-related condition	PMID:15133511|PMID:20358599|PMID:25741868|PMID:28492532
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:0111063	hyperphosphatemic familial tumoral calcinosis		ISO	RGD:1315063	D	RGD:11554173	20190514	CTD		CTD Direct Evidence: marker/mechanism	
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:0111063	hyperphosphatemic familial tumoral calcinosis		ISO	RGD:1315063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical hyperostosis with hyperphosphatemia	PMID:25741868|PMID:28492532
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:0111063	hyperphosphatemic familial tumoral calcinosis		ISS	RGD:1315064	D	RGD:13592920	20230718	MouseDO		OMIM:211900	
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:182	calcinosis		ISO	RGD:1315063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17710231
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:3275	thymoma		ISO	RGD:1315063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:630	genetic disease		ISO	RGD:1315063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1315063	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34520102
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:9007992	Hyperphosphatemic Familial Tumoral Calcinosis 1		ISO	RGD:1315063	D	RGD:7240710	20190508	OMIM			
1306443	Galnt3	polypeptide N-acetylgalactosaminyltransferase 3	gene	DOID:9007992	Hyperphosphatemic Familial Tumoral Calcinosis 1		ISO	RGD:1315063	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 | ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1	PMID:15133511|PMID:15687324|PMID:16199547|PMID:17311862|PMID:17576681|PMID:20358599|PMID:24668887|PMID:25351881|PMID:25741868|PMID:25899975|PMID:26337219|PMID:27164190|PMID:28492532|PMID:5899975|PMID:9536098
1306444	Fbxl15	F-box and leucine-rich repeat protein 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306444	Fbxl15	F-box and leucine-rich repeat protein 15	gene	DOID:10534	stomach cancer		ISO	RGD:1315065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306444	Fbxl15	F-box and leucine-rich repeat protein 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306444	Fbxl15	F-box and leucine-rich repeat protein 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306444	Fbxl15	F-box and leucine-rich repeat protein 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306447	Samd8	sterile alpha motif domain containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1315069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306447	Samd8	sterile alpha motif domain containing 8	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1315069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1306447	Samd8	sterile alpha motif domain containing 8	gene	DOID:3070	high grade glioma		ISO	RGD:1315069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306447	Samd8	sterile alpha motif domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306450	Psmd11	proteasome 26S subunit, non-ATPase 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306450	Psmd11	proteasome 26S subunit, non-ATPase 11	gene	DOID:10534	stomach cancer		ISO	RGD:1315074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306450	Psmd11	proteasome 26S subunit, non-ATPase 11	gene	DOID:12849	autistic disorder		ISO	RGD:1315074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:38866022
1306450	Psmd11	proteasome 26S subunit, non-ATPase 11	gene	DOID:1324	lung cancer		ISO	RGD:1315074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306450	Psmd11	proteasome 26S subunit, non-ATPase 11	gene	DOID:1909	melanoma		ISO	RGD:1315074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306450	Psmd11	proteasome 26S subunit, non-ATPase 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306450	Psmd11	proteasome 26S subunit, non-ATPase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306450	Psmd11	proteasome 26S subunit, non-ATPase 11	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1315074	D	RGD:11554173	20220607	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
1306450	Psmd11	proteasome 26S subunit, non-ATPase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306450	Psmd11	proteasome 26S subunit, non-ATPase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306450	Psmd11	proteasome 26S subunit, non-ATPase 11	gene	DOID:9970	obesity		ISO	RGD:1315074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:38866022
1306451	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306451	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306451	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:3275	thymoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306451	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306451	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:5041	esophageal cancer		ISO	RGD:1346719	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306451	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306451	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306451	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306451	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306451	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306451	Mettl4	methyltransferase 4, N6-adenosine	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306452	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306452	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306452	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306452	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306452	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:1324	lung cancer		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306452	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:1909	melanoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306452	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:3275	thymoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306452	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306452	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315077	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306452	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306452	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306452	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306452	Arap2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306453	Trim54	tripartite motif-containing 54	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306453	Trim54	tripartite motif-containing 54	gene	DOID:1324	lung cancer		ISO	RGD:1354245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306453	Trim54	tripartite motif-containing 54	gene	DOID:1909	melanoma		ISO	RGD:1354245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306453	Trim54	tripartite motif-containing 54	gene	DOID:2394	ovarian cancer		ISO	RGD:1354245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306453	Trim54	tripartite motif-containing 54	gene	DOID:4362	cervical cancer		ISO	RGD:1354245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306453	Trim54	tripartite motif-containing 54	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306453	Trim54	tripartite motif-containing 54	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306454	Spo11	SPO11 initiator of meiotic double strand breaks	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1315081	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
1306454	Spo11	SPO11 initiator of meiotic double strand breaks	gene	DOID:4362	cervical cancer		ISO	RGD:1315081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306455	Bpnt2	3'(2'), 5'-bisphosphate nucleotidase 2	gene	DOID:0112224	chondrodysplasia with joint dislocations gPAPP type		ISO	RGD:1603038	D	RGD:7240710	20140911	OMIM			
1306455	Bpnt2	3'(2'), 5'-bisphosphate nucleotidase 2	gene	DOID:0112224	chondrodysplasia with joint dislocations gPAPP type		ISO	RGD:1603038	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BPNT2-related condition | ClinVar Annotator: match by term: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE | ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, GPAPP type | ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type	PMID:25741868|PMID:28492532
1306455	Bpnt2	3'(2'), 5'-bisphosphate nucleotidase 2	gene	DOID:0112224	chondrodysplasia with joint dislocations gPAPP type		ISS	RGD:1553656	D	RGD:13592920	20230718	MouseDO		OMIM:614078	
1306455	Bpnt2	3'(2'), 5'-bisphosphate nucleotidase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306455	Bpnt2	3'(2'), 5'-bisphosphate nucleotidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306455	Bpnt2	3'(2'), 5'-bisphosphate nucleotidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306456	Art4	ADP-ribosyltransferase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306456	Art4	ADP-ribosyltransferase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315084	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306456	Art4	ADP-ribosyltransferase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306458	Clstn1	calsyntenin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306458	Clstn1	calsyntenin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306458	Clstn1	calsyntenin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306458	Clstn1	calsyntenin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306458	Clstn1	calsyntenin 1	gene	DOID:1324	lung cancer		ISO	RGD:1315087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306458	Clstn1	calsyntenin 1	gene	DOID:1909	melanoma		ISO	RGD:1315087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306458	Clstn1	calsyntenin 1	gene	DOID:3275	thymoma		ISO	RGD:1315087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306458	Clstn1	calsyntenin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306458	Clstn1	calsyntenin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315087	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306458	Clstn1	calsyntenin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306458	Clstn1	calsyntenin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306458	Clstn1	calsyntenin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306458	Clstn1	calsyntenin 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306458	Clstn1	calsyntenin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306458	Clstn1	calsyntenin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306459	Cntnap4	contactin associated protein family member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306459	Cntnap4	contactin associated protein family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1315089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306459	Cntnap4	contactin associated protein family member 4	gene	DOID:1324	lung cancer		ISO	RGD:1315089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306459	Cntnap4	contactin associated protein family member 4	gene	DOID:1909	melanoma		ISO	RGD:1315089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306459	Cntnap4	contactin associated protein family member 4	gene	DOID:3070	high grade glioma		ISO	RGD:1315089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306459	Cntnap4	contactin associated protein family member 4	gene	DOID:3275	thymoma		ISO	RGD:1315089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306459	Cntnap4	contactin associated protein family member 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306459	Cntnap4	contactin associated protein family member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1315089	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306459	Cntnap4	contactin associated protein family member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306459	Cntnap4	contactin associated protein family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315089	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1306459	Cntnap4	contactin associated protein family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306460	Gpr63	G protein-coupled receptor 63	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306460	Gpr63	G protein-coupled receptor 63	gene	DOID:4362	cervical cancer		ISO	RGD:1315091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306460	Gpr63	G protein-coupled receptor 63	gene	DOID:5041	esophageal cancer		ISO	RGD:1315091	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306460	Gpr63	G protein-coupled receptor 63	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306460	Gpr63	G protein-coupled receptor 63	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306460	Gpr63	G protein-coupled receptor 63	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306461	Usp1	ubiquitin specific peptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306461	Usp1	ubiquitin specific peptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1315093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306461	Usp1	ubiquitin specific peptidase 1	gene	DOID:13636	Fanconi anemia		ISS	RGD:1315094	D	RGD:13592920	20180518	MouseDO			
1306461	Usp1	ubiquitin specific peptidase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1315093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306461	Usp1	ubiquitin specific peptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1315093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306461	Usp1	ubiquitin specific peptidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315093	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306461	Usp1	ubiquitin specific peptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306461	Usp1	ubiquitin specific peptidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315093	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306463	Hirip3	HIRA interacting protein 3	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1315096	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
1306463	Hirip3	HIRA interacting protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306463	Hirip3	HIRA interacting protein 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306463	Hirip3	HIRA interacting protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1315096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306463	Hirip3	HIRA interacting protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306463	Hirip3	HIRA interacting protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306463	Hirip3	HIRA interacting protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306465	Mst1r	macrophage stimulating 1 receptor	gene	DOID:10534	stomach cancer		ISO	RGD:1315099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306465	Mst1r	macrophage stimulating 1 receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306465	Mst1r	macrophage stimulating 1 receptor	gene	DOID:1115	sarcoma		ISO	RGD:1315099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306465	Mst1r	macrophage stimulating 1 receptor	gene	DOID:1909	melanoma		ISO	RGD:1315099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306465	Mst1r	macrophage stimulating 1 receptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306465	Mst1r	macrophage stimulating 1 receptor	gene	DOID:2394	ovarian cancer		ISO	RGD:1315099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306465	Mst1r	macrophage stimulating 1 receptor	gene	DOID:3347	osteosarcoma		ISO	RGD:1315099	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22235915
1306465	Mst1r	macrophage stimulating 1 receptor	gene	DOID:4362	cervical cancer		ISO	RGD:1315099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306465	Mst1r	macrophage stimulating 1 receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306465	Mst1r	macrophage stimulating 1 receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306465	Mst1r	macrophage stimulating 1 receptor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1315099	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22575169
1306465	Mst1r	macrophage stimulating 1 receptor	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1315099	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MST1R-related condition | ClinVar Annotator: match by term: NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: nasopharyngeal carcinoma, susceptibility to, 3	PMID:25741868|PMID:28492532
1306465	Mst1r	macrophage stimulating 1 receptor	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:1315099	D	RGD:7240710	20201104	OMIM			
1306465	Mst1r	macrophage stimulating 1 receptor	gene	DOID:9538	multiple myeloma		ISO	RGD:1315099	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:0040084	Streptococcus pneumonia	severity	ISO	RGD:1315104	D	RGD:38599154|PMID:17322108	20200911	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:0050211	swine influenza		ISO	RGD:1315104	D	RGD:38599196|PMID:27468760	20200914	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:0050211	swine influenza	severity	ISO	RGD:1315103	D	RGD:38599181|PMID:29867955	20200912	RGD		DNA:misense mutation, substitution:cds:S1635Y, D2850D (rs17847825,  rs2230460 ) (human)	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:0050211	swine influenza	severity	ISO	RGD:1315104	D	RGD:38599181|PMID:29867955	20200911	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1315103	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21173233
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:0050902	medulloblastoma		ISO	RGD:1315103	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21652733
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:0051061	stroke		ISO	RGD:1315104	D	RGD:6482678|PMID:21546487	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:0060180	colitis		ISO	RGD:1315104	D	RGD:6482682|PMID:21244371	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:0061067	immunodeficiency 97		ISO	RGD:1315103	D	RGD:7240710	20220413	OMIM			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:0061067	immunodeficiency 97		ISO	RGD:1315103	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION | ClinVar Annotator: match by term: Immunodeficiency 97 with autoinflammation	PMID:25360116|PMID:25741868|PMID:25785104|PMID:31554793|PMID:32589349|PMID:35101336
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:1315104	D	RGD:6482681|PMID:21402770	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:10126	keratoconus		ISO	RGD:1315103	D	RGD:8554872	20181009	ClinVar		ClinVar Annotator: match by term: Keratoconus	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:10283	prostate cancer		ISO	RGD:1315103	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1315104	D	RGD:6482689|PMID:20025958	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:1115	sarcoma		ISO	RGD:1315103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:12849	autistic disorder		ISO	RGD:1315103	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14627686
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:12849	autistic disorder		ISO	RGD:1315103	D	RGD:6482702|PMID:14627686	20120426	RGD		DNA:SNP:exon:rs1129293 (human)	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:13622	campylobacteriosis	treatment	ISO	RGD:1315104	D	RGD:38599193|PMID:23180818	20200914	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:14069	cerebral malaria		ISO	RGD:1315104	D	RGD:38599200|PMID:25775137	20200914	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1315103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:33661099|PMID:35101336
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:1485	cystic fibrosis		ISO	RGD:1315103	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis	PMID:25741868
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:1909	melanoma		ISO	RGD:1315103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:1936	atherosclerosis	severity	ISO	RGD:1315104	D	RGD:1642394|PMID:17483449	20070914	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:2841	asthma		ISO	RGD:1315104	D	RGD:6482695|PMID:18754810	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:2843	long QT syndrome		ISO	RGD:1315103	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:3498	pancreatic ductal adenocarcinoma		ISO	RGD:1315103	D	RGD:14390130|PMID:20876794	20190220	RGD		mRNA, protein:increased expression:pancreas (human)	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:399	tuberculosis		ISO	RGD:1315104	D	RGD:38599199|PMID:30514491	20200914	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:4362	cervical cancer		ISO	RGD:1315103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:5082	liver cirrhosis	treatment	IMP		D	RGD:38599216|PMID:29323718	20200915	RGD		associated with Schistosomiasis Japonica	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:5844	myocardial infarction		ISO	RGD:1315104	D	RGD:6482688|PMID:20056919	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:6000	congestive heart failure		ISO	RGD:1315103	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12963636
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:6000	congestive heart failure		ISO	RGD:1315104	D	RGD:6482699|PMID:15936620	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:630	genetic disease		ISO	RGD:1315103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:820	myocarditis		ISO	RGD:1315104	D	RGD:38599186|PMID:20028656	20200914	RGD		associated with endotoxemia	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:8632	Kaposi's sarcoma	treatment	ISO	RGD:1315104	D	RGD:38599159|PMID:21665152	20200913	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:8947	diabetic retinopathy		IEP		D	RGD:41410819|PMID:31759996	20210216	RGD		mRNA, protein:increased expression:retina	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9000099	Experimental Colitis	susceptibility	ISO	RGD:1315104	D	RGD:38599183|PMID:20347874	20200912	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9000784	Fibrosis		IMP		D	RGD:6482708|PMID:21866628	20120426	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9000784	Fibrosis		ISO	RGD:1315103	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12963636
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:1315104	D	RGD:6482697|PMID:16374167	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1315104	D	RGD:6482684|PMID:20374644	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1315104	D	RGD:6482696|PMID:18412166	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1315104	D	RGD:6482686|PMID:20303183	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1315103	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12963636
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9004422	Chagas Cardiomyopathy		ISO	RGD:1315104	D	RGD:38599151|PMID:29666415	20200911	RGD		mRNA:increased expression:heart (mouse)	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9004422	Chagas Cardiomyopathy	disease_progression	ISO	RGD:1315103	D	RGD:38599151|PMID:29666415	20200911	RGD		mRNA:increased expression:heart (human)	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9004422	Chagas Cardiomyopathy	disease_progression	ISO	RGD:1315104	D	RGD:38599151|PMID:29666415	20200911	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9004484	Sepsis		ISO	RGD:1315104	D	RGD:6482683|PMID:20508212	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1315104	D	RGD:38599213|PMID:11714830	20200915	RGD		associated with endotoxemia	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1315104	D	RGD:6482677|PMID:22198681	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9005372	Inflammation		IMP		D	RGD:1642429|PMID:17526805	20070917	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1315104	D	RGD:6482687|PMID:20179753	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9008104	Cancer Pain		IEP		D	RGD:152025537|PMID:25919859	20220504	RGD		mRNA, protein:increased expression:spinal cord (rat)	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1315104	D	RGD:6482694|PMID:20004201	20120425	RGD		associated with Colitis	
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1315104	D	RGD:6482698|PMID:16365454	20120425	RGD			
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1315103	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:31626838
1306468	Pik3cg	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	gene	DOID:9970	obesity		ISO	RGD:1315104	D	RGD:6482700|PMID:21949398	20120425	RGD			
1306470	Slc22a14	solute carrier family 22, member 14	gene	DOID:10534	stomach cancer		ISO	RGD:1315106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306470	Slc22a14	solute carrier family 22, member 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1306470	Slc22a14	solute carrier family 22, member 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306470	Slc22a14	solute carrier family 22, member 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1306470	Slc22a14	solute carrier family 22, member 14	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306470	Slc22a14	solute carrier family 22, member 14	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306470	Slc22a14	solute carrier family 22, member 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306472	Rtl6	retrotransposon Gag like 6	gene	DOID:303	substance-related disorder		ISO	RGD:1345067	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1306472	Rtl6	retrotransposon Gag like 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306473	Mtx2	metaxin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306473	Mtx2	metaxin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306473	Mtx2	metaxin 2	gene	DOID:11372	megacolon		ISO	RGD:1315110	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
1306473	Mtx2	metaxin 2	gene	DOID:1909	melanoma		ISO	RGD:1315110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306473	Mtx2	metaxin 2	gene	DOID:3275	thymoma		ISO	RGD:1315110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306473	Mtx2	metaxin 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306473	Mtx2	metaxin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306473	Mtx2	metaxin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306473	Mtx2	metaxin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306473	Mtx2	metaxin 2	gene	DOID:811	lipodystrophy		ISO	RGD:1315110	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lipodystrophy	
1306473	Mtx2	metaxin 2	gene	DOID:9006257	Growth Disorders		ISO	RGD:1315110	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Growth retardation	
1306473	Mtx2	metaxin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306473	Mtx2	metaxin 2	gene	DOID:9007744	Mandibuloacral Dysplasia Progeroid Syndrome		ISO	RGD:1315110	D	RGD:7240710	20201223	OMIM			
1306473	Mtx2	metaxin 2	gene	DOID:9007744	Mandibuloacral Dysplasia Progeroid Syndrome		ISO	RGD:1315110	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME | ClinVar Annotator: match by term: Mandibuloacral dysplasia progeroid syndrome | ClinVar Annotator: match by term: Progeroid mandibuloacral dysplasia	PMID:25741868|PMID:38544690
1306473	Mtx2	metaxin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306477	Rhbdd1	rhomboid domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306477	Rhbdd1	rhomboid domain containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1601951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306477	Rhbdd1	rhomboid domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306477	Rhbdd1	rhomboid domain containing 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1601951	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: therapeutic	PMID:35442567
1306477	Rhbdd1	rhomboid domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306477	Rhbdd1	rhomboid domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306477	Rhbdd1	rhomboid domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306477	Rhbdd1	rhomboid domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306477	Rhbdd1	rhomboid domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306477	Rhbdd1	rhomboid domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315118	D	RGD:11049140|PMID:25627160	20160404	RGD		protein:decreased expression:fusiform gyrus	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:10534	stomach cancer		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:1115	sarcoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:1324	lung cancer		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:1470	major depressive disorder		ISO	RGD:1315118	D	RGD:11049139|PMID:21635931	20160404	RGD		protein:decreased expression:prefrontal cortex	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:1909	melanoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:3275	thymoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306479	Eif4b	eukaryotic translation initiation factor 4B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306481	Txk	TXK tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306481	Txk	TXK tyrosine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306481	Txk	TXK tyrosine kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306481	Txk	TXK tyrosine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306481	Txk	TXK tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306482	Rnf146	ring finger protein 146	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306482	Rnf146	ring finger protein 146	gene	DOID:10534	stomach cancer		ISO	RGD:1315124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306482	Rnf146	ring finger protein 146	gene	DOID:2256	osteochondrodysplasia		ISS	RGD:1552458	D	RGD:13592920	20221020	MouseDO			
1306482	Rnf146	ring finger protein 146	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306482	Rnf146	ring finger protein 146	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306482	Rnf146	ring finger protein 146	gene	DOID:9003676	Brain Hypoxia-Ischemia		IEP		D	RGD:13524865|PMID:28108258	20180501	RGD			
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:0111459	classic galactosemia		IMP		D	RGD:632518410|PMID:31845342	20260409	RGD			
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:0111459	classic galactosemia		ISO	RGD:1315126	D	RGD:7240710	20191106	OMIM			
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:0111459	classic galactosemia		ISO	RGD:1315126	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GALACTOSEMIA I | ClinVar Annotator: match by term: GALT-related condition | ClinVar Annotator: match by term: Galactosemia, classic	PMID:10070616|PMID:10408771|PMID:10424825|PMID:10573007|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:12595586|PMID:14518827|PMID:15841485|PMID:1610789|PMID:19224951|PMID:19418241|PMID:19581158|PMID:20008339|PMID:2011574|PMID:20301691|PMID:21228398|PMID:22461411|PMID:22743281|PMID:22944367|PMID:22963887|PMID:23690308|PMID:23924834|PMID:24718839|PMID:25087612|PMID:25473725|PMID:25592817|PMID:25614870|PMID:25741868|PMID:25814382|PMID:27005423|PMID:27176039|PMID:28065439|PMID:28492532|PMID:30172461|PMID:30275481|PMID:31954591|PMID:33636947|PMID:36515074|PMID:4759900|PMID:7550229|PMID:7887417|PMID:8198125|PMID:8551426|PMID:8892021|PMID:8956044|PMID:9012409|PMID:9202622|PMID:9222760|PMID:9323558|PMID:9635294
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:0111459	classic galactosemia	treatment	IMP	XCO:0001791	D	RGD:632518416|PMID:41239942	20260409	RGD			
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:13608	biliary atresia		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Biliary atresia	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:2340	craniosynostosis		ISO	RGD:1315126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: craniosynostosis	PMID:25741868
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:2355	anemia		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:3070	high grade glioma		ISO	RGD:1315126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:4724	brain edema		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral edema	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:17876724|PMID:22461411|PMID:25741868|PMID:28492532
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1315126	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10070616|PMID:10408771|PMID:10424825|PMID:10884393|PMID:10960497|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:1373122|PMID:14518827|PMID:15841485|PMID:15986423|PMID:1610789|PMID:17221873|PMID:19224951|PMID:19418241|PMID:19581158|PMID:2011574|PMID:20301691|PMID:21228398|PMID:22461411|PMID:22944367|PMID:22963887|PMID:23151865|PMID:24718839|PMID:25087612|PMID:25268296|PMID:25473725|PMID:25592817|PMID:25614870|PMID:25741868|PMID:25936995|PMID:27176039|PMID:28065439|PMID:28492532|PMID:30718057|PMID:31954591|PMID:38469090|PMID:4759900|PMID:7887417|PMID:8198125|PMID:8551426|PMID:8892021|PMID:9012409|PMID:9202622|PMID:9222760|PMID:9323558|PMID:9635294
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:83	cataract		IMP		D	RGD:632518410|PMID:31845342	20260409	RGD		associated with classic galactosemia;	
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:83	cataract	ameliorates	ISO	RGD:1315126	D	RGD:632518412|PMID:34964137	20260327	RGD			
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9002802	Acidoses		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acidosis	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute liver failure	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9004657	Weight Gain	ameliorates	ISO	RGD:1315126	D	RGD:632518412|PMID:34964137	20260327	RGD			
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9004898	Jaundice		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9006095	Ascites		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9006635	Hyponatremia		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9007874	Liver Failure		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9008617	Lethargy		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9870	galactosemia		ISO	RGD:1315126	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22773758
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9870	galactosemia		ISO	RGD:1315126	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | ClinVar Annotator: match by term: Galactose intolerance | ClinVar Annotator: match by term: Galactosemia	PMID:10070616|PMID:10220154|PMID:10384398|PMID:10399107|PMID:10408771|PMID:10424825|PMID:10439960|PMID:10529216|PMID:10535394|PMID:10573007|PMID:10649501|PMID:10884393|PMID:10952646|PMID:10960497|PMID:11092512|PMID:11113841|PMID:11152465|PMID:11216901|PMID:11261429|PMID:11286505|PMID:11397328|PMID:11511927|PMID:11592823|PMID:11678552|PMID:11754113|PMID:11919338|PMID:12208137|PMID:12350230|PMID:12552079|PMID:12595586|PMID:12872845|PMID:1301925|PMID:1373122|PMID:1427861|PMID:14518827|PMID:14728988|PMID:15172000|PMID:15633893|PMID:15749517|PMID:15775761|PMID:15841485|PMID:15986423|PMID:1610789|PMID:16167124|PMID:16199547|PMID:16540753|PMID:16765930|PMID:17041746|PMID:17079880|PMID:17143577|PMID:17221873|PMID:17486650|PMID:17576681|PMID:17876724|PMID:17884932|PMID:17957157|PMID:18207281|PMID:18210213|PMID:18684449|PMID:18956253|PMID:1897530|PMID:19181333|PMID:19224951|PMID:19375122|PMID:19418241|PMID:19581158|PMID:19904210|PMID:20008339|PMID:20100763|PMID:2011574|PMID:20151200|PMID:20213376|PMID:20301691|PMID:20348403|PMID:20351709|PMID:20547145|PMID:20663501|PMID:20863731|PMID:21150919|PMID:21228398|PMID:21501963|PMID:21779791|PMID:2233247|PMID:22461411|PMID:22743281|PMID:22870861|PMID:22944367|PMID:22963887|PMID:22975760|PMID:23022339|PMID:23151865|PMID:23319291|PMID:23418865|PMID:23430559|PMID:23583749|PMID:23690308|PMID:23749220|PMID:23924834|PMID:24045215|PMID:24718839|PMID:24973740|PMID:25052314|PMID:25087612|PMID:25124065|PMID:25268296|PMID:25473725|PMID:25525159|PMID:25592817|PMID:25614870|PMID:25622686|PMID:25741868|PMID:25814382|PMID:25936995|PMID:26274329|PMID:26565537|PMID:26733289|PMID:26783274|PMID:27005423|PMID:27176039|PMID:27308838|PMID:27363831|PMID:27415407|PMID:27578510|PMID:27603904|PMID:27629047|PMID:27878435|PMID:28065439|PMID:28173647|PMID:28374897|PMID:28391442|PMID:28492532|PMID:28644047|PMID:28649529|PMID:29252199|PMID:29261178|PMID:29350350|PMID:29653003|PMID:29892033|PMID:30143026|PMID:30172461|PMID:30231941|PMID:30275481|PMID:30718057|PMID:30808388|PMID:30987402|PMID:30994193|PMID:31042289|PMID:31194252|PMID:31194682|PMID:31194895|PMID:31358168|PMID:31392114|PMID:31589614|PMID:31637888|PMID:31845337|PMID:31954591|PMID:31980526|PMID:32072977|PMID:32903656|PMID:32954279|PMID:33101984|PMID:33113773|PMID:33335841|PMID:33636947|PMID:34030713|PMID:34233069|PMID:34302356|PMID:34440436|PMID:35118398|PMID:35464534|PMID:35665479|PMID:35677809|PMID:36399011|PMID:36468010|PMID:36515074|PMID:36703223|PMID:36732629|PMID:37563963|PMID:37776278|PMID:38090149|PMID:38139222|PMID:38262132|PMID:38444572|PMID:38469090|PMID:38761847|PMID:38778342|PMID:39143820|PMID:39440457|PMID:40233430|PMID:40513497|PMID:41083167|PMID:4759900|PMID:7550229|PMID:7573066|PMID:7671959|PMID:7887416|PMID:7887417|PMID:8051928|PMID:8198125|PMID:8499924|PMID:8522334|PMID:8551426|PMID:8598637|PMID:8692963|PMID:8741038|PMID:8892021|PMID:8956044|PMID:9012409|PMID:9202622|PMID:9222760|PMID:9323558|PMID:9396569|PMID:9450900|PMID:9536098|PMID:9635294|PMID:9686364|PMID:9766850
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9870	galactosemia		ISS	RGD:1315127	D	RGD:13592920	20230718	MouseDO			
1306483	Galt	galactose-1-phosphate uridylyltransferase	gene	DOID:9993	hypoglycemia		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
1306485	Bcas2	BCAS2, pre-mRNA processing factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306485	Bcas2	BCAS2, pre-mRNA processing factor	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1315129	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:27356265
1306485	Bcas2	BCAS2, pre-mRNA processing factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306485	Bcas2	BCAS2, pre-mRNA processing factor	gene	DOID:1612	breast cancer		ISO	RGD:1315129	D	RGD:9850147|PMID:12169396	20150331	RGD		DNA:amplification:cds (human)	
1306485	Bcas2	BCAS2, pre-mRNA processing factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1315129	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306485	Bcas2	BCAS2, pre-mRNA processing factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306485	Bcas2	BCAS2, pre-mRNA processing factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306486	Habp4	hyaluronan binding protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1315131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306486	Habp4	hyaluronan binding protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1315131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306486	Habp4	hyaluronan binding protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306486	Habp4	hyaluronan binding protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306486	Habp4	hyaluronan binding protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306486	Habp4	hyaluronan binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306486	Habp4	hyaluronan binding protein 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1315131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29924831
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:0060237	Warburg micro syndrome		ISO	RGD:1604828	D	RGD:11554173	20180306	CTD		CTD Direct Evidence: marker/mechanism	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:0060237	Warburg micro syndrome		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Warburg Micro syndrome	PMID:35196747
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:0060261	congenital ptosis		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ptosis	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:0110716	Warburg micro syndrome 1		ISO	RGD:1604828	D	RGD:7240710	20180228	OMIM			
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:0110716	Warburg micro syndrome 1		ISO	RGD:1604828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RAB3GAP1-related condition | ClinVar Annotator: match by term: RAB3GAP1-related disorder | ClinVar Annotator: match by term: WARBURG MICRO SYNDROME 1 | ClinVar Annotator: match by term: Warburg micro syndrome 1	PMID:15216542|PMID:15696165|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20512159|PMID:20584031|PMID:23420520|PMID:25741868|PMID:26421802|PMID:26467025|PMID:28454995|PMID:28492532|PMID:29878067|PMID:29924831|PMID:30202406|PMID:30730599|PMID:31319225|PMID:32651314|PMID:32740904|PMID:32870266|PMID:34702808|PMID:37575647|PMID:9536098
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:10629	microphthalmia		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral microphthalmos	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1604828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29924831
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1604828	D	RGD:8554872	20210309	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:13938	amenorrhea		ISO	RGD:1604828	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32870266
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29924831
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:420	hypertrichosis		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29924831
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29924831
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:480	movement disease		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604828	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29924831
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1604828	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:20512159|PMID:23420520|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32740904|PMID:34702808
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:674	cleft palate		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:83	cataract		ISO	RGD:1604828	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital cataract	PMID:25741868
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:9000980	Martsolf Syndrome 2		ISO	RGD:1604828	D	RGD:7240710	20210728	OMIM			
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:9000980	Martsolf Syndrome 2		ISO	RGD:1604828	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MARTSOLF SYNDROME 2 | ClinVar Annotator: match by term: Martsolf syndrome 2	PMID:18414213|PMID:23420520|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30730599|PMID:32740904|PMID:33306828
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306487	Rab3gap1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
1306488	Appbp2	amyloid beta precursor protein binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306488	Appbp2	amyloid beta precursor protein binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306488	Appbp2	amyloid beta precursor protein binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1315134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306488	Appbp2	amyloid beta precursor protein binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1315134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306488	Appbp2	amyloid beta precursor protein binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306488	Appbp2	amyloid beta precursor protein binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306488	Appbp2	amyloid beta precursor protein binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306489	Rab5b	RAB5B, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306489	Rab5b	RAB5B, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1315136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306489	Rab5b	RAB5B, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1315136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306489	Rab5b	RAB5B, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306489	Rab5b	RAB5B, member RAS oncogene family	gene	DOID:9001026	Pulmonary Surfactant Metabolism Dysfunction 1		ISO	RGD:1315136	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: RAB5B-associated surfactant dysfunction disorder	PMID:25741868|PMID:35121658
1306489	Rab5b	RAB5B, member RAS oncogene family	gene	DOID:9003507	Premature Birth		ISO	RGD:1315136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:35121658
1306489	Rab5b	RAB5B, member RAS oncogene family	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:35121658
1306489	Rab5b	RAB5B, member RAS oncogene family	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:35121658
1306489	Rab5b	RAB5B, member RAS oncogene family	gene	DOID:9006335	Thyrotropin-Releasing Hormone Deficiency		ISO	RGD:1315136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothalamic hypothyroidism	PMID:25741868|PMID:35121658
1306489	Rab5b	RAB5B, member RAS oncogene family	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:35121658
1306489	Rab5b	RAB5B, member RAS oncogene family	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1315136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:35121658
1306489	Rab5b	RAB5B, member RAS oncogene family	gene	DOID:9840	esotropia		ISO	RGD:1315136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:35121658
1306490	Tmem101	transmembrane protein 101	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306490	Tmem101	transmembrane protein 101	gene	DOID:5041	esophageal cancer		ISO	RGD:1601840	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306490	Tmem101	transmembrane protein 101	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1306490	Tmem101	transmembrane protein 101	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306490	Tmem101	transmembrane protein 101	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306491	Zfp710	zinc finger protein 710	gene	DOID:1909	melanoma		ISO	RGD:1606391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306491	Zfp710	zinc finger protein 710	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306491	Zfp710	zinc finger protein 710	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306492	Nin	ninein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306492	Nin	ninein	gene	DOID:0050569	Seckel syndrome		ISO	RGD:1315140	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Seckel syndrome	PMID:28492532
1306492	Nin	ninein	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1315140	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
1306492	Nin	ninein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306492	Nin	ninein	gene	DOID:0070011	Seckel syndrome 7		ISO	RGD:1315140	D	RGD:7240710	20140911	OMIM			
1306492	Nin	ninein	gene	DOID:0070011	Seckel syndrome 7		ISO	RGD:1315140	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: NIN-related condition | ClinVar Annotator: match by term: SECKEL SYNDROME 7 | ClinVar Annotator: match by term: Seckel syndrome 7	PMID:17576681|PMID:22933543|PMID:25741868|PMID:28492532|PMID:9536098
1306492	Nin	ninein	gene	DOID:10534	stomach cancer		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306492	Nin	ninein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306492	Nin	ninein	gene	DOID:1115	sarcoma		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306492	Nin	ninein	gene	DOID:1324	lung cancer		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306492	Nin	ninein	gene	DOID:1909	melanoma		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306492	Nin	ninein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306492	Nin	ninein	gene	DOID:3275	thymoma		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306492	Nin	ninein	gene	DOID:4362	cervical cancer		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306492	Nin	ninein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:28492532|PMID:9536098
1306492	Nin	ninein	gene	DOID:5041	esophageal cancer		ISO	RGD:1315140	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306492	Nin	ninein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306492	Nin	ninein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306492	Nin	ninein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306492	Nin	ninein	gene	DOID:9256	colorectal cancer		ISO	RGD:1315140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1605671	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1605671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:25741868
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0060466	gingival fibromatosis		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingival fibromatosis	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0110087	asphyxiating thoracic dystrophy 3		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3	PMID:23910462|PMID:28492532|PMID:29068549|PMID:9068549
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0110094	short-rib thoracic dysplasia 8 with or without polydactyly		ISO	RGD:1605671	D	RGD:7240710	20140911	OMIM			
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:0110094	short-rib thoracic dysplasia 8 with or without polydactyly		ISO	RGD:1605671	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: DYNC2I1-related condition | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly | ClinVar Annotator: match by term: short-rib thoracic dysplasia 8 with or without polydactyly	PMID:16199547|PMID:17576681|PMID:23910462|PMID:24033266|PMID:25492405|PMID:25640679|PMID:25741868|PMID:28422394|PMID:28492532|PMID:29068549|PMID:30320547|PMID:9068549|PMID:9536098
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:1115	sarcoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:11830	myopia		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:1909	melanoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:2468	psychotic disorder		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:3275	thymoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605671	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:535	sleep disorder		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:630	genetic disease		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:6543	acne		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:799	varicose veins		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Varicose disease	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:8741	seborrheic dermatitis		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seborrheic dermatitis	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9000053	Headache		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9000363	Hematuria		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:25741868
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9001224	Striae Distensae		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9004992	Apnea		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9006617	Fatigue		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9006743	Spasm		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9007152	Talipes		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:28492532
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306493	Dync2i1	dynein 2 intermediate chain 1	gene	DOID:9884	muscular dystrophy		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868|PMID:28492532
1306494	Vopp1	VOPP1 WW domain binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1602094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306494	Vopp1	VOPP1 WW domain binding protein	gene	DOID:1909	melanoma		ISO	RGD:1602094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306494	Vopp1	VOPP1 WW domain binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602094	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306494	Vopp1	VOPP1 WW domain binding protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602094	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306494	Vopp1	VOPP1 WW domain binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306494	Vopp1	VOPP1 WW domain binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602094	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18206229
1306495	Krcc1	lysine-rich coiled-coil 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306495	Krcc1	lysine-rich coiled-coil 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1605393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306495	Krcc1	lysine-rich coiled-coil 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306497	Serpinb11	serpin family B member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306498	Zfp362	zinc finger protein 362	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306498	Zfp362	zinc finger protein 362	gene	DOID:1115	sarcoma		ISO	RGD:1602182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306498	Zfp362	zinc finger protein 362	gene	DOID:1324	lung cancer		ISO	RGD:1602182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306498	Zfp362	zinc finger protein 362	gene	DOID:3275	thymoma		ISO	RGD:1602182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306498	Zfp362	zinc finger protein 362	gene	DOID:4362	cervical cancer		ISO	RGD:1602182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306498	Zfp362	zinc finger protein 362	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306498	Zfp362	zinc finger protein 362	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306499	Wdr20	WD repeat domain 20	gene	DOID:0050847	sleep apnea		ISO	RGD:1315150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
1306499	Wdr20	WD repeat domain 20	gene	DOID:10908	hydrocephalus		ISO	RGD:1315150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
1306499	Wdr20	WD repeat domain 20	gene	DOID:1824	status epilepticus		ISO	RGD:1315150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868
1306499	Wdr20	WD repeat domain 20	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1315150	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
1306499	Wdr20	WD repeat domain 20	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306499	Wdr20	WD repeat domain 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306499	Wdr20	WD repeat domain 20	gene	DOID:9003133	Hypertelorism		ISO	RGD:1315150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1306499	Wdr20	WD repeat domain 20	gene	DOID:9003816	Macrocephaly		ISO	RGD:1315150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1306499	Wdr20	WD repeat domain 20	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1306499	Wdr20	WD repeat domain 20	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315150	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1306500	Bahcc1	BAH domain and coiled-coil containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306500	Bahcc1	BAH domain and coiled-coil containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306500	Bahcc1	BAH domain and coiled-coil containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306500	Bahcc1	BAH domain and coiled-coil containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1606249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306500	Bahcc1	BAH domain and coiled-coil containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1606249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306500	Bahcc1	BAH domain and coiled-coil containing 1	gene	DOID:1909	melanoma		ISO	RGD:1606249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306500	Bahcc1	BAH domain and coiled-coil containing 1	gene	DOID:3275	thymoma		ISO	RGD:1606249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306500	Bahcc1	BAH domain and coiled-coil containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306500	Bahcc1	BAH domain and coiled-coil containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606249	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306500	Bahcc1	BAH domain and coiled-coil containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306500	Bahcc1	BAH domain and coiled-coil containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306500	Bahcc1	BAH domain and coiled-coil containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelodysplasia	PMID:21765411|PMID:25741868
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:0111044	gray platelet syndrome		ISO	RGD:1604049	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21765411|PMID:21765412|PMID:21765413
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:0111044	gray platelet syndrome		ISO	RGD:1604049	D	RGD:7240710	20141015	OMIM			
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:0111044	gray platelet syndrome		ISO	RGD:1604049	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GRAY PLATELET SYNDROME | ClinVar Annotator: match by term: Gray platelet syndrome | ClinVar Annotator: match by term: NBEAL2-related condition	PMID:21765411|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32693407|PMID:35982159|PMID:36430862|PMID:38158197
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:0111044	gray platelet syndrome		ISS	RGD:1551459	D	RGD:13592920	20230718	MouseDO		OMIM:139090	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:10126	keratoconus		ISO	RGD:1604049	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Keratoconus	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:1909	melanoma		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604049	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:630	genetic disease		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:9002720	Splenomegaly		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:21765411|PMID:25741868
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:9003417	Menorrhagia		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Menorrhagia	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:9008421	Epistaxis		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306501	Nbeal2	neurobeachin-like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306502	C2h5orf22	similar to human chromosome 5 open reading frame 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605070	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306502	C2h5orf22	similar to human chromosome 5 open reading frame 22	gene	DOID:1324	lung cancer		ISO	RGD:1605070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306502	C2h5orf22	similar to human chromosome 5 open reading frame 22	gene	DOID:3275	thymoma		ISO	RGD:1605070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306502	C2h5orf22	similar to human chromosome 5 open reading frame 22	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306502	C2h5orf22	similar to human chromosome 5 open reading frame 22	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306502	C2h5orf22	similar to human chromosome 5 open reading frame 22	gene	DOID:4362	cervical cancer		ISO	RGD:1605070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306502	C2h5orf22	similar to human chromosome 5 open reading frame 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306502	C2h5orf22	similar to human chromosome 5 open reading frame 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306502	C2h5orf22	similar to human chromosome 5 open reading frame 22	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306502	C2h5orf22	similar to human chromosome 5 open reading frame 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306503	Socs4	suppressor of cytokine signaling 4	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1315155	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:26297436
1306503	Socs4	suppressor of cytokine signaling 4	gene	DOID:1115	sarcoma		ISO	RGD:1315155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306503	Socs4	suppressor of cytokine signaling 4	gene	DOID:1909	melanoma		ISO	RGD:1315155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306503	Socs4	suppressor of cytokine signaling 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306503	Socs4	suppressor of cytokine signaling 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306503	Socs4	suppressor of cytokine signaling 4	gene	DOID:9004009	Reperfusion Injury		IEP		D	RGD:2303397|PMID:17880360	20090211	RGD		mRNA:increased expression:hippocampus	
1306504	Klhdc2	kelch domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306504	Klhdc2	kelch domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306504	Klhdc2	kelch domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1315157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306504	Klhdc2	kelch domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1315157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306504	Klhdc2	kelch domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306504	Klhdc2	kelch domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306504	Klhdc2	kelch domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306506	Mmd2	monocyte to macrophage differentiation-associated 2	gene	DOID:1909	melanoma		ISO	RGD:1315160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306506	Mmd2	monocyte to macrophage differentiation-associated 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1315160	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306506	Mmd2	monocyte to macrophage differentiation-associated 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306506	Mmd2	monocyte to macrophage differentiation-associated 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306507	Rad54b	RAD54 homolog B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306507	Rad54b	RAD54 homolog B	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1604371	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306507	Rad54b	RAD54 homolog B	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1604371	D	RGD:7240710	20131211	OMIM			
1306507	Rad54b	RAD54 homolog B	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1604371	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-Hodgkin lymphoma	PMID:28492532
1306507	Rad54b	RAD54 homolog B	gene	DOID:10534	stomach cancer		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306507	Rad54b	RAD54 homolog B	gene	DOID:1115	sarcoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306507	Rad54b	RAD54 homolog B	gene	DOID:1324	lung cancer		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306507	Rad54b	RAD54 homolog B	gene	DOID:1520	colon carcinoma		ISO	RGD:1604371	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	
1306507	Rad54b	RAD54 homolog B	gene	DOID:1909	melanoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306507	Rad54b	RAD54 homolog B	gene	DOID:3275	thymoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306507	Rad54b	RAD54 homolog B	gene	DOID:4362	cervical cancer		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306507	Rad54b	RAD54 homolog B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306507	Rad54b	RAD54 homolog B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306507	Rad54b	RAD54 homolog B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306507	Rad54b	RAD54 homolog B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306507	Rad54b	RAD54 homolog B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306507	Rad54b	RAD54 homolog B	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1604371	D	RGD:11554173	20200805	CTD		CTD Direct Evidence: marker/mechanism	
1306507	Rad54b	RAD54 homolog B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306507	Rad54b	RAD54 homolog B	gene	DOID:9256	colorectal cancer		ISO	RGD:1604371	D	RGD:7240710	20200226	OMIM			
1306507	Rad54b	RAD54 homolog B	gene	DOID:9256	colorectal cancer		ISO	RGD:1604371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
1306508	Erlec1	endoplasmic reticulum lectin 1	gene	DOID:13580	cholestasis		ISO	RGD:1315163	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1306508	Erlec1	endoplasmic reticulum lectin 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1315163	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:1115	sarcoma		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:1324	lung cancer		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:1909	melanoma		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:3275	thymoma		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306509	Ruvbl2	RuvB-like AAA ATPase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306510	Zfp189	zinc finger protein 189	gene	DOID:10534	stomach cancer		ISO	RGD:1315167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306510	Zfp189	zinc finger protein 189	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306510	Zfp189	zinc finger protein 189	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306511	Hoxd10	homeo box D10	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1315169	D	RGD:7240710	20130221	OMIM			
1306511	Hoxd10	homeo box D10	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1315169	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus | ClinVar Annotator: match by term: HOXD10-related disorder | ClinVar Annotator: match by term: VERTICAL TALUS, CONGENITAL	PMID:25741868
1306511	Hoxd10	homeo box D10	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1315169	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15146389
1306511	Hoxd10	homeo box D10	gene	DOID:1115	sarcoma		ISO	RGD:1315169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306511	Hoxd10	homeo box D10	gene	DOID:3068	glioblastoma		ISO	RGD:1315169	D	RGD:11554173	20220111	CTD		CTD Direct Evidence: marker/mechanism	PMID:34737577
1306511	Hoxd10	homeo box D10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315169	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:22227861
1306511	Hoxd10	homeo box D10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306511	Hoxd10	homeo box D10	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1315169	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
1306511	Hoxd10	homeo box D10	gene	DOID:9000918	Disease Progression		ISO	RGD:1315169	D	RGD:11554173	20220111	CTD		CTD Direct Evidence: marker/mechanism	PMID:34737577
1306511	Hoxd10	homeo box D10	gene	DOID:9004998	Kyphoscoliosis		IEP		D	RGD:11354896|PMID:18327665	20160728	RGD		mRNA:decreased expression:verterbra	
1306511	Hoxd10	homeo box D10	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1315169	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22227861
1306511	Hoxd10	homeo box D10	gene	DOID:9007573	Flatfoot		ISO	RGD:1315169	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:15146389|PMID:16450407|PMID:24239177
1306511	Hoxd10	homeo box D10	gene	DOID:9007794	Lower Extremity Deformities, Congenital		ISO	RGD:1315169	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9409668
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:0070297	primary microcephaly		ISO	RGD:1606570	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: primary microcephaly	PMID:25741868
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1606570	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:23621518
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606570	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606570	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606570	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:9001834	Peritoneal Neoplasms		ISO	RGD:1606570	D	RGD:11554173	20161213	CTD		CTD Direct Evidence: marker/mechanism	PMID:23621518
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306512	Igf2bp3	insulin-like growth factor 2 mRNA binding protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306513	Acot13	acyl-CoA thioesterase 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306513	Acot13	acyl-CoA thioesterase 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306513	Acot13	acyl-CoA thioesterase 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306513	Acot13	acyl-CoA thioesterase 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
1306514	Capn15	calpain 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306514	Capn15	calpain 15	gene	DOID:10907	microcephaly		ISO	RGD:1315174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1306514	Capn15	calpain 15	gene	DOID:12270	coloboma		ISO	RGD:1315174	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:25741868
1306514	Capn15	calpain 15	gene	DOID:1324	lung cancer		ISO	RGD:1315174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306514	Capn15	calpain 15	gene	DOID:1682	congenital heart disease		ISO	RGD:1315174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
1306514	Capn15	calpain 15	gene	DOID:3070	high grade glioma		ISO	RGD:1315174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306514	Capn15	calpain 15	gene	DOID:4362	cervical cancer		ISO	RGD:1315174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306514	Capn15	calpain 15	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315174	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306514	Capn15	calpain 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1315174	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306514	Capn15	calpain 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306514	Capn15	calpain 15	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1306514	Capn15	calpain 15	gene	DOID:9001664	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME		ISO	RGD:1315174	D	RGD:7240710	20210623	OMIM			
1306514	Capn15	calpain 15	gene	DOID:9001664	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME		ISO	RGD:1315174	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CAPN15-related condition | ClinVar Annotator: match by term: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Oculogastrointestinal-neurodevelopmental syndrome | ClinVar Annotator: match by term: oculogastrointestinal-neurodevelopmental syndrome	PMID:25741868|PMID:33410501
1306514	Capn15	calpain 15	gene	DOID:9004108	Fused Kidney		ISO	RGD:1315174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:25741868
1306514	Capn15	calpain 15	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing loss	PMID:25741868
1306514	Capn15	calpain 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306514	Capn15	calpain 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306514	Capn15	calpain 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306515	Actr10	actin related protein 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306515	Actr10	actin related protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1315176	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306515	Actr10	actin related protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306515	Actr10	actin related protein 10	gene	DOID:1324	lung cancer		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306515	Actr10	actin related protein 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306515	Actr10	actin related protein 10	gene	DOID:3275	thymoma		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306515	Actr10	actin related protein 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306515	Actr10	actin related protein 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306515	Actr10	actin related protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1315176	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306515	Actr10	actin related protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306515	Actr10	actin related protein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306515	Actr10	actin related protein 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306515	Actr10	actin related protein 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:1315178	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1315178	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:24700879|PMID:25741868|PMID:28492532|PMID:29618029
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:0090001	Fraser syndrome		ISO	RGD:1315178	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:17163535
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:0090001	Fraser syndrome		ISO	RGD:1315178	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS | ClinVar Annotator: match by term: Cryptophthalmos with other malformations | ClinVar Annotator: match by term: Fraser syndrome	PMID:12766769|PMID:16199547|PMID:17163535|PMID:17576681|PMID:18671281|PMID:24700879|PMID:25741868|PMID:26302956|PMID:28492532|PMID:28844315|PMID:29618029|PMID:31319225|PMID:32488952|PMID:34246755|PMID:35595450|PMID:9536098
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:0090001	Fraser syndrome		ISS	RGD:1315179	D	RGD:13592920	20230718	MouseDO			
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:0111405	Fraser syndrome 1		ISO	RGD:1315178	D	RGD:1598960|PMID:12766769	20070108	RGD		DNA:mutations:multiple (human)	
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:0111405	Fraser syndrome 1		ISO	RGD:1315178	D	RGD:7240710	20130221	OMIM			
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:0111405	Fraser syndrome 1		ISO	RGD:1315178	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: FRASER SYNDROME 1 | ClinVar Annotator: match by term: Fraser syndrome 1	PMID:12766769|PMID:16199547|PMID:16894541|PMID:17576681|PMID:18671281|PMID:21900877|PMID:22029163|PMID:24551978|PMID:24583203|PMID:24700879|PMID:25741868|PMID:26302956|PMID:26633542|PMID:27280866|PMID:28492532|PMID:29096039|PMID:29261186|PMID:29618029|PMID:30639323|PMID:31308072|PMID:31738409|PMID:31923588|PMID:31999076|PMID:32436246|PMID:32488952|PMID:32643034|PMID:33726816|PMID:34556655|PMID:34974531|PMID:34979951|PMID:35005812|PMID:35595450|PMID:9536098
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1315178	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:24700879|PMID:25741868|PMID:28492532|PMID:29618029
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:11836	clubfoot		ISS	RGD:1315179	D	RGD:13592920	20180518	MouseDO		OMIM:119800	
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:14686	Axenfeld-Rieger syndrome		ISO	RGD:1315178	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Rieger anomaly	PMID:25741868|PMID:26893459|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:14766	renal agenesis		ISO	RGD:1315178	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:25741868|PMID:35005812
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1315178	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:24700879|PMID:25741868|PMID:28492532|PMID:29618029
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1315178	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1315178	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:24700879|PMID:25741868|PMID:28492532|PMID:29618029
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532|PMID:31308072
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:576	proteinuria		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: proteinuria	PMID:25741868
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1315178	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:24700879|PMID:25741868|PMID:28492532|PMID:29618029
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1315178	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:9008205	Macrostomia		ISO	RGD:1315178	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:17163535
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306516	Fras1	Fraser extracellular matrix complex subunit 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1315178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1315180	D	RGD:155791563|PMID:34742001	20221220	RGD			
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:0060227	Adams-Oliver syndrome		ISO	RGD:1315180	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:0060227	Adams-Oliver syndrome		ISO	RGD:1315180	D	RGD:155791566|PMID:25824905	20221220	RGD		DNA:mutations:cds:	
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:0060227	Adams-Oliver syndrome		ISO	RGD:1315180	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Adams-Oliver syndrome	PMID:21820096|PMID:25741868|PMID:25824905|PMID:28135719|PMID:28492532|PMID:29620724
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:0110735	neurodegeneration with brain iron accumulation 2A		ISO	RGD:1315180	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1	PMID:11727201|PMID:12673792|PMID:12955720|PMID:16385454|PMID:16783378|PMID:20301500|PMID:20301601|PMID:20301718|PMID:20301788|PMID:21735565|PMID:21820096|PMID:25741868|PMID:28492532
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:10534	stomach cancer		ISO	RGD:1315180	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1315180	D	RGD:155791565|PMID:32753649	20221220	RGD			
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1315180	D	RGD:155791564|PMID:29587866	20221220	RGD			
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:1059	intellectual disability		ISO	RGD:1315180	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, borderline	PMID:25741868|PMID:28492532
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:10907	microcephaly		ISO	RGD:1315180	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:10908	hydrocephalus		ISO	RGD:1315180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hydrocephaly	
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:1115	sarcoma		ISO	RGD:1315180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:1324	lung cancer		ISO	RGD:1315180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:1909	melanoma		ISO	RGD:1315180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:2748	glycogen storage disease III		ISO	RGD:1315180	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cori disease	PMID:11727201|PMID:12673792|PMID:12955720|PMID:16385454|PMID:16783378|PMID:20301500|PMID:20301601|PMID:20301718|PMID:20301788|PMID:21735565|PMID:21820096|PMID:25741868|PMID:28492532
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:4362	cervical cancer		ISO	RGD:1315180	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1315180	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:630	genetic disease		ISO	RGD:1315180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:37813462
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:9002962	Adams-Oliver Syndrome 2		ISO	RGD:1315180	D	RGD:7240710	20140903	OMIM			
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:9002962	Adams-Oliver Syndrome 2		ISO	RGD:1315180	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADAMS-OLIVER SYNDROME 2 | ClinVar Annotator: match by term: Adams-Oliver syndrome 2 | ClinVar Annotator: match by term: DOCK6-related condition	PMID:16199547|PMID:21820096|PMID:25091416|PMID:25741868|PMID:25824905|PMID:28492532|PMID:28884918|PMID:29924900|PMID:29961505|PMID:30111349|PMID:30293987|PMID:31131953|PMID:37813462
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:9006618	Liver Metastasis	ameliorates	ISO	RGD:1315180	D	RGD:155791564|PMID:29587866	20221220	RGD		associated with stomach cancer;	
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306517	Dock6	dedicator of cytokinesis 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306518	Fbxw4	F-box and WD repeat domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306518	Fbxw4	F-box and WD repeat domain containing 4	gene	DOID:0090025	split hand-foot malformation 3		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Split hand-foot malformation 3 | ClinVar Annotator: match by term: Split-hand/foot malformation 3	PMID:12913067|PMID:25741868|PMID:28492532
1306518	Fbxw4	F-box and WD repeat domain containing 4	gene	DOID:1059	intellectual disability		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
1306518	Fbxw4	F-box and WD repeat domain containing 4	gene	DOID:14289	Ebstein anomaly		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ebstein anomaly	PMID:25741868
1306518	Fbxw4	F-box and WD repeat domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306518	Fbxw4	F-box and WD repeat domain containing 4	gene	DOID:2468	psychotic disorder		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868
1306518	Fbxw4	F-box and WD repeat domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306518	Fbxw4	F-box and WD repeat domain containing 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306518	Fbxw4	F-box and WD repeat domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306518	Fbxw4	F-box and WD repeat domain containing 4	gene	DOID:5805	subvalvular aortic stenosis		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Subvalvular aortic stenosis	PMID:25741868
1306518	Fbxw4	F-box and WD repeat domain containing 4	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868
1306518	Fbxw4	F-box and WD repeat domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306518	Fbxw4	F-box and WD repeat domain containing 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12974740|PMID:25741868
1306520	Lrif1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:0060917	facioscapulohumeral muscular dystrophy 3		ISO	RGD:1603986	D	RGD:7240710	20210825	OMIM			
1306520	Lrif1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:0060917	facioscapulohumeral muscular dystrophy 3		ISO	RGD:1603986	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 3, digenic	
1306520	Lrif1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306520	Lrif1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1603986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306520	Lrif1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1603986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306520	Lrif1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306520	Lrif1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603986	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306520	Lrif1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306520	Lrif1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:0060479	Shwachman-Diamond syndrome		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Shwachman syndrome	PMID:25741868
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:0112295	spondylometaphyseal dysplasia		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylometaphyseal dysplasia	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:10907	microcephaly		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:1143	exotropia		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:11782	astigmatism		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:12215	oligohydramnios		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exocrine pancreatic insufficiency	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1352796	D	RGD:11554173	20200331	CTD		CTD Direct Evidence: marker/mechanism	PMID:25015090
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:4667	kyphosis		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352796	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:630	genetic disease		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Foveal hypoplasia	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:9004552	Genu Varum		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu varum	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:9009168	Shwachman-Diamond Syndrome 2		ISO	RGD:1352796	D	RGD:7240710	20190315	OMIM			
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:9009168	Shwachman-Diamond Syndrome 2		ISO	RGD:1352796	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EFL1-related condition | ClinVar Annotator: match by term: SHWACHMAN-DIAMOND SYNDROME 2 | ClinVar Annotator: match by term: Shwachman-Diamond syndrome 2	PMID:25741868|PMID:28331068|PMID:28492532|PMID:31151987|PMID:34115847|PMID:37524782
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1352796	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: POLE-related polyposis and colorectal cancer syndrome	PMID:28492532
1306521	Efl1	elongation factor like GTPase 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1352796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:25741868|PMID:28492532
1306522	Rgs18	regulator of G-protein signaling 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306522	Rgs18	regulator of G-protein signaling 18	gene	DOID:1324	lung cancer		ISO	RGD:1315187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306524	Etv4	ETS variant transcription factor 4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4	PMID:38922859
1306524	Etv4	ETS variant transcription factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306524	Etv4	ETS variant transcription factor 4	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1315190	D	RGD:11554173	20170110	CTD		CTD Direct Evidence: marker/mechanism	PMID:27869830
1306524	Etv4	ETS variant transcription factor 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315190	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:17173048|PMID:27783944
1306524	Etv4	ETS variant transcription factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306524	Etv4	ETS variant transcription factor 4	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:1315190	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27783944
1306524	Etv4	ETS variant transcription factor 4	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1315190	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21679465
1306524	Etv4	ETS variant transcription factor 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306525	Mlana	melan-A	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1315192	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
1306525	Mlana	melan-A	gene	DOID:1909	melanoma		ISO	RGD:1315192	D	RGD:11554173	20170110	CTD		CTD Direct Evidence: marker/mechanism	PMID:26640592
1306525	Mlana	melan-A	gene	DOID:2773	contact dermatitis		ISO	RGD:1315192	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1306525	Mlana	melan-A	gene	DOID:9001834	Peritoneal Neoplasms		ISO	RGD:1315192	D	RGD:11554173	20161213	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
1306526	Inka2	inka box actin regulator 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306526	Inka2	inka box actin regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306526	Inka2	inka box actin regulator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306527	Dnaja3	DnaJ heat shock protein family (Hsp40) member A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306527	Dnaja3	DnaJ heat shock protein family (Hsp40) member A3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306527	Dnaja3	DnaJ heat shock protein family (Hsp40) member A3	gene	DOID:1324	lung cancer		ISO	RGD:1315195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306527	Dnaja3	DnaJ heat shock protein family (Hsp40) member A3	gene	DOID:1909	melanoma		ISO	RGD:1315195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306527	Dnaja3	DnaJ heat shock protein family (Hsp40) member A3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306527	Dnaja3	DnaJ heat shock protein family (Hsp40) member A3	gene	DOID:4362	cervical cancer		ISO	RGD:1315195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306527	Dnaja3	DnaJ heat shock protein family (Hsp40) member A3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306527	Dnaja3	DnaJ heat shock protein family (Hsp40) member A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306527	Dnaja3	DnaJ heat shock protein family (Hsp40) member A3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306527	Dnaja3	DnaJ heat shock protein family (Hsp40) member A3	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306527	Dnaja3	DnaJ heat shock protein family (Hsp40) member A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306527	Dnaja3	DnaJ heat shock protein family (Hsp40) member A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306527	Dnaja3	DnaJ heat shock protein family (Hsp40) member A3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306528	Hspa4l	heat shock protein family A (Hsp70) member 4 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306528	Hspa4l	heat shock protein family A (Hsp70) member 4 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306528	Hspa4l	heat shock protein family A (Hsp70) member 4 like	gene	DOID:10534	stomach cancer		ISO	RGD:1350877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306528	Hspa4l	heat shock protein family A (Hsp70) member 4 like	gene	DOID:1115	sarcoma		ISO	RGD:1350877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306528	Hspa4l	heat shock protein family A (Hsp70) member 4 like	gene	DOID:1324	lung cancer		ISO	RGD:1350877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306528	Hspa4l	heat shock protein family A (Hsp70) member 4 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306528	Hspa4l	heat shock protein family A (Hsp70) member 4 like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306528	Hspa4l	heat shock protein family A (Hsp70) member 4 like	gene	DOID:4362	cervical cancer		ISO	RGD:1350877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306528	Hspa4l	heat shock protein family A (Hsp70) member 4 like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306528	Hspa4l	heat shock protein family A (Hsp70) member 4 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1350877	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306528	Hspa4l	heat shock protein family A (Hsp70) member 4 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306528	Hspa4l	heat shock protein family A (Hsp70) member 4 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306528	Hspa4l	heat shock protein family A (Hsp70) member 4 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315197	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24781735
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:0070654	desmosterolosis		ISO	RGD:1315197	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:16410790
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:0070654	desmosterolosis		ISO	RGD:1315197	D	RGD:7240710	20130221	OMIM			
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:0070654	desmosterolosis		ISO	RGD:1315197	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DESMOSTEROLOSIS | ClinVar Annotator: match by term: DHCR24-related condition | ClinVar Annotator: match by term: Desmosterolosis | ClinVar Annotator: match by term: desmosterolosis	PMID:11519011|PMID:21671375|PMID:21902244|PMID:25741868|PMID:28492532|PMID:33098801|PMID:33619735|PMID:35872528
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:0070654	desmosterolosis		ISS	RGD:1315198	D	RGD:13592920	20251030	MouseDO		OMIM:602398	
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:0080600	COVID-19		ISO	RGD:1315197	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:10534	stomach cancer		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1315197	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23042211
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:11100	Q fever		ISO	RGD:1315197	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16469060
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:1115	sarcoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:1324	lung cancer		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:1315197	D	RGD:1600897|PMID:11519011	20070330	RGD		desmosterolosis, OMIM:602398, Y471S, N294T, K306N	
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:4362	cervical cancer		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:5041	esophageal cancer		ISO	RGD:1315197	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:5419	schizophrenia		ISO	RGD:1315197	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:630	genetic disease		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36413997
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	PMID:25741868
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:9005616	Micrognathism		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306529	Dhcr24	24-dehydrocholesterol reductase	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1315197	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:25741868|PMID:33027564|PMID:37236975
1306530	Krt34	keratin 34	gene	DOID:10534	stomach cancer		ISO	RGD:1350893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306530	Krt34	keratin 34	gene	DOID:4362	cervical cancer		ISO	RGD:1350893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306531	Ndst4	N-deacetylase and N-sulfotransferase 4	gene	DOID:1909	melanoma		ISO	RGD:1315201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306531	Ndst4	N-deacetylase and N-sulfotransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306531	Ndst4	N-deacetylase and N-sulfotransferase 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315201	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
1306532	Zbtb39	zinc finger and BTB domain containing 39	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306532	Zbtb39	zinc finger and BTB domain containing 39	gene	DOID:1909	melanoma		ISO	RGD:1605102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306532	Zbtb39	zinc finger and BTB domain containing 39	gene	DOID:4362	cervical cancer		ISO	RGD:1605102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306532	Zbtb39	zinc finger and BTB domain containing 39	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306532	Zbtb39	zinc finger and BTB domain containing 39	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306533	Pkp2	plakophilin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306533	Pkp2	plakophilin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1315204	D	RGD:1580872|PMID:16567567	19990101	RGD			
1306533	Pkp2	plakophilin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1315204	D	RGD:1580873|PMID:15489853	19990101	RGD			
1306533	Pkp2	plakophilin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22036071|PMID:22085907|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23973953|PMID:24033266|PMID:24055113|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24704780|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25979592|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26850880|PMID:27153395|PMID:27194543|PMID:27335691|PMID:27532257|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28611399|PMID:28705875|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29288195|PMID:29582136|PMID:29802319|PMID:29940860|PMID:29997227|PMID:30161220|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30677492|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:32183154|PMID:32372669|PMID:32522011|PMID:32600061|PMID:33087929|PMID:33232181|PMID:35535697
1306533	Pkp2	plakophilin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:35655036|PMID:35712781|PMID:35727495|PMID:35766183|PMID:35803546|PMID:35819174|PMID:35932045|PMID:36138163|PMID:36178741|PMID:36225810|PMID:36264615|PMID:36352534|PMID:37477868|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:11790773|PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16799251|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20603720|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22036071|PMID:22085907|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22458570|PMID:22781308|PMID:23085127|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23486541|PMID:23514727|PMID:23651034|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24576884|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24920660|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25326635|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25608792|PMID:25611685|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25807282|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26112193|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26569459|PMID:26590176|PMID:26656175|PMID:26676851|PMID:26701096|PMID:26718681|PMID:26743238|PMID:26850880|PMID:27000522|PMID:27030002|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27194543|PMID:27332903|PMID:27335691|PMID:27532257|PMID:27572111|PMID:27650965|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28045975|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28491739|PMID:28492532|PMID:28523642|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28767663|PMID:28807990|PMID:29038103|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29253866|PMID:29288195|PMID:29386531|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29759408|PMID:29802319|PMID:29884292|PMID:29915097|PMID:29940860|PMID:29961461|PMID:29997227|PMID:30161220|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30699244|PMID:30700137|PMID:30763825|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30830208|PMID:30847666|PMID:31064352|PMID:31118017|PMID:31156706|PMID:31189615|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32183154|PMID:32268277|PMID:32294163|PMID:32372669|PMID:32389048|PMID:32443836|PMID:32508047|PMID:32522011|PMID:32553227|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:32916635|PMID:33029862|PMID:33087929|PMID:33179747|PMID:33207704|PMID:33232181|PMID:33238575|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33821670|PMID:33831308|PMID:33949037|PMID:33968641
1306533	Pkp2	plakophilin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:34008892|PMID:34120153|PMID:34134068|PMID:34135346|PMID:34191271|PMID:34317382|PMID:34379075|PMID:34426522|PMID:34469894|PMID:34486814|PMID:34550725|PMID:34697415|PMID:34924461|PMID:35026164|PMID:35059364|PMID:35470680|PMID:35535697|PMID:35536239|PMID:35579515|PMID:35653365|PMID:35655036|PMID:35712781|PMID:35727495|PMID:35753512|PMID:35766183|PMID:35803546|PMID:35819174|PMID:35838873|PMID:35932045|PMID:36008935|PMID:36129056|PMID:36136372|PMID:36138163|PMID:36175056|PMID:36178741|PMID:36225810|PMID:36264615|PMID:36352534|PMID:36588553|PMID:36720007|PMID:37198425|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37904629|PMID:38050058|PMID:38254962|PMID:38594305|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, right ventricular arrhythmogenic | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:15489853|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16799251|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17521752|PMID:17576681|PMID:18382419|PMID:18662195|PMID:19279339|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20829228|PMID:20857253|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22085907|PMID:22170284|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23183494|PMID:23299917|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23651034|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24576884|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25351510|PMID:25395996|PMID:25608792|PMID:25611685|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26112193|PMID:26138720|PMID:26230511|PMID:26314686|PMID:26569459|PMID:26590176|PMID:26676851|PMID:26718681|PMID:26743238|PMID:26850880|PMID:27000522|PMID:27030002|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27332903|PMID:27532257|PMID:27650965|PMID:27831900|PMID:27930701|PMID:28045975|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28255936|PMID:28341588|PMID:28471438|PMID:28472724|PMID:28491739|PMID:28492532|PMID:28523642|PMID:28588093|PMID:29038103|PMID:29099038|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29456632|PMID:29606362|PMID:29802319|PMID:29884292|PMID:29961461|PMID:30385303|PMID:30471092|PMID:30571190|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30700137|PMID:30763825|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30830208|PMID:30847666|PMID:31118017|PMID:31189615|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32268277|PMID:32368696|PMID:32372669|PMID:32389048|PMID:32443836|PMID:32508047|PMID:32553227|PMID:32659924|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33207704|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33821670|PMID:3396983|PMID:34120153|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34550725|PMID:34697415|PMID:35026164|PMID:35536239|PMID:35653365|PMID:35712781|PMID:35727495|PMID:35753512|PMID:35766183|PMID:35819174|PMID:35838873|PMID:36008935|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36352534|PMID:36588553|PMID:36720007|PMID:37296576|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37833253|PMID:37904629|PMID:37937776|PMID:38254962|PMID:38489124|PMID:38540378|PMID:38594305|PMID:38627794|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, right ventricular arrhythmogenic | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17576681|PMID:18382419|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20301310|PMID:20400443|PMID:20525856|PMID:20829228|PMID:20857253|PMID:21062920|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22085907|PMID:22170284|PMID:22214898|PMID:22781308|PMID:23183494|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24576884|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25351510|PMID:25395996|PMID:25525159|PMID:25611685|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26230511|PMID:26314686|PMID:26467025|PMID:26569459|PMID:26590176|PMID:26676851|PMID:26743238|PMID:26850880|PMID:27030002|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27532257|PMID:27930701|PMID:28045975|PMID:28069705|PMID:28097316|PMID:28166282|PMID:28255936|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28491739|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28807990|PMID:29038103|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29606362|PMID:29802319|PMID:29940860|PMID:29961461|PMID:29997227|PMID:30161220|PMID:30354609|PMID:30385303|PMID:30471092|PMID:30562116|PMID:30656044|PMID:30662450|PMID:30763825|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30830208|PMID:30847666|PMID:31189615|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:31983221|PMID:32102357|PMID:32183154|PMID:32268277|PMID:32368696|PMID:32372669|PMID:32389048|PMID:32443836|PMID:32508047|PMID:32553227|PMID:32600061|PMID:32659924|PMID:33029862|PMID:33087929|PMID:33207704|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33821670|PMID:3396983|PMID:34120153|PMID:34134068|PMID:34135346|PMID:34191271|PMID:34363016|PMID:34426522|PMID:34550725|PMID:35026164|PMID:35059364|PMID:35536239|PMID:35653365|PMID:35655036|PMID:35712781|PMID:35727495|PMID:35753512|PMID:35766183|PMID:35819174|PMID:35838873|PMID:36008935|PMID:36129056|PMID:36136372|PMID:36138163|PMID:36264615|PMID:36352534|PMID:36588553|PMID:36720007|PMID:37418234|PMID:37477868|PMID:37833253|PMID:37904629|PMID:37937776|PMID:38050058|PMID:38254962|PMID:38594305|PMID:38627794|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1550508	D	RGD:265253172|PMID:27412010	20230418	RGD			
1306533	Pkp2	plakophilin 2	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1315204	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:20400443|PMID:20857253|PMID:21378009|PMID:21606390|PMID:21636032|PMID:23137101|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24704780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:29288195|PMID:33919104
1306533	Pkp2	plakophilin 2	gene	DOID:0050638	hereditary systemic amyloidosis 1		ISO	RGD:1315204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amyloid Cardiomyopathy, Transthyretin-related	PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29497013|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31402444|PMID:31539150|PMID:31568572|PMID:32906206|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29456632|PMID:29497013|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29961461|PMID:29997227|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33500567|PMID:33919104|PMID:34008892|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34816084|PMID:35535697|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27854218|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29961461|PMID:29997227|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33179747|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33919104|PMID:34008892|PMID:34120153|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34816084|PMID:35535697|PMID:35655036|PMID:35932045|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy	PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29961461|PMID:29997227|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30763825|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33029862|PMID:33087929|PMID:33179747|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33919104|PMID:34008892|PMID:34120153|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34486814|PMID:34816084|PMID:35535697|PMID:35655036|PMID:35932045|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11790773|PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20603720|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23085127|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23465095|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25326635|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26850880|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28045975|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28523642|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28767663|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29253866|PMID:29288195|PMID:29386531|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29940860|PMID:29961461|PMID:29997227|PMID:30161220|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30763825|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30830208|PMID:30847666|PMID:31064352|PMID:31156706|PMID:31189615|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32268277|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32508047|PMID:32522011|PMID:32553227|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32906206|PMID:32916635|PMID:33029862|PMID:33087929|PMID:33179747|PMID:33207704|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33919104|PMID:34008892|PMID:34120153|PMID:34135346|PMID:34191271|PMID:34317382|PMID:34426522|PMID:34469894|PMID:34486814|PMID:34816084|PMID:34924461|PMID:35535697|PMID:35579515|PMID:35655036|PMID:35712781|PMID:35766183|PMID:35819174|PMID:35932045|PMID:36138163|PMID:36178741|PMID:36225810|PMID:37477868|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:11790773|PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20603720|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23085127|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23465095|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24576884|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24920660|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25326635|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26590176|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26850880|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27572111|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28045975|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28523642|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28767663|PMID:28807990|PMID:29038103|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29253866|PMID:29288195|PMID:29386531|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29759408|PMID:29802319|PMID:29915097|PMID:29940860|PMID:29961461|PMID:29997227|PMID:30161220|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30699244|PMID:30700137|PMID:30763825|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30830208|PMID:30847666|PMID:31064352|PMID:31156706|PMID:31189615|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32268277|PMID:32294163|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32508047|PMID:32522011|PMID:32553227|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32906206|PMID:32916635|PMID:33029862|PMID:33087929|PMID:33179747|PMID:33207704|PMID:33232181|PMID:33238575|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33919104|PMID:34008892|PMID:34120153|PMID:34135346|PMID:34191271|PMID:34317382|PMID:34426522|PMID:34469894|PMID:34486814|PMID:34550725|PMID:34816084|PMID:34924461|PMID:35026164|PMID:35535697|PMID:35579515|PMID:35655036
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:35712781|PMID:35766183|PMID:35819174|PMID:35838873|PMID:35932045|PMID:36129056|PMID:36138163|PMID:36175056|PMID:36178741|PMID:36225810|PMID:36264615|PMID:36588553|PMID:36720007|PMID:37418234|PMID:37477868|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11790773|PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20603720|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23085127|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23465095|PMID:23514727|PMID:23651034|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24576884|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24920660|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25326635|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25608792|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26590176|PMID:26656175|PMID:26676851|PMID:26718681|PMID:26743238|PMID:26850880|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27332903|PMID:27335691|PMID:27532257|PMID:27572111|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28045975|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28523642|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28767663|PMID:28807990|PMID:29038103|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29253866|PMID:29288195|PMID:29386531|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29759408|PMID:29802319|PMID:29884292|PMID:29915097|PMID:29940860|PMID:29961461|PMID:29997227|PMID:30161220|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30699244|PMID:30700137|PMID:30763825|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30830208|PMID:30847666|PMID:31064352|PMID:31118017|PMID:31156706|PMID:31189615|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31702781|PMID:31737537|PMID:31983221|PMID:32102357|PMID:32183154|PMID:32268277|PMID:32294163|PMID:32368696|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32508047|PMID:32522011|PMID:32553227|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32906206|PMID:32916635|PMID:33029862|PMID:33087929|PMID:33179747|PMID:33207704|PMID:33232181|PMID:33238575|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33919104|PMID:33949037|PMID:34008892|PMID:34120153|PMID:34134068|PMID:34135346|PMID:34191271
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20250610	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:34317382|PMID:34426522|PMID:34469894|PMID:34486814|PMID:34550725|PMID:34816084|PMID:34924461|PMID:35026164|PMID:35059364|PMID:35535697|PMID:35536239|PMID:35579515|PMID:35653365|PMID:35655036|PMID:35712781|PMID:35753512|PMID:35766183|PMID:35819174|PMID:35838873|PMID:35932045|PMID:36008935|PMID:36129056|PMID:36136372|PMID:36138163|PMID:36178741|PMID:36225810|PMID:36264615|PMID:36588553|PMID:36720007|PMID:37198425|PMID:37296576|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37904629|PMID:37937776|PMID:38050058|PMID:38218330|PMID:38254962|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11790773|PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18167567|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20603720|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23085127|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23465095|PMID:23514727|PMID:23651034|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24576884|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24920660|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25326635|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25608792|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26569459|PMID:26590176|PMID:26656175|PMID:26676851|PMID:26701096|PMID:26718681|PMID:26743238|PMID:26850880|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27194543|PMID:27332903|PMID:27335691|PMID:27532257|PMID:27572111|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28045975|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28523642|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28767663|PMID:28807990|PMID:29038103|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29253866|PMID:29288195|PMID:29386531|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29759408|PMID:29802319|PMID:29884292|PMID:29915097|PMID:29940860|PMID:29961461|PMID:29997227|PMID:30161220|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30699244|PMID:30700137|PMID:30763825|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30830208|PMID:30847666|PMID:31064352|PMID:31118017|PMID:31156706|PMID:31189615|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31702781|PMID:31737537|PMID:31983221|PMID:32102357|PMID:32183154|PMID:32268277|PMID:32294163|PMID:32368696|PMID:32372669|PMID:32389048|PMID:32397162|PMID:32443836|PMID:32458740|PMID:32508047|PMID:32522011|PMID:32553227|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32906206|PMID:32916635|PMID:33029862|PMID:33087929|PMID:33179747|PMID:33207704|PMID:33232181|PMID:33238575|PMID:33500567|PMID:33552729|PMID:33652588
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:33684294|PMID:33919104|PMID:33949037|PMID:33968641|PMID:34008892|PMID:34120153|PMID:34134068|PMID:34135346|PMID:34137518|PMID:34191271|PMID:34317382|PMID:34426522|PMID:34469894|PMID:34486814|PMID:34550725|PMID:34816084|PMID:34924461|PMID:35026164|PMID:35059364|PMID:35470680|PMID:35535697|PMID:35536239|PMID:35579515|PMID:35653365|PMID:35655036|PMID:35712781|PMID:35753512|PMID:35766183|PMID:35819174|PMID:35838873|PMID:35932045|PMID:36008935|PMID:36129056|PMID:36136372|PMID:36138163|PMID:36178741|PMID:36225810|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36588553|PMID:36720007|PMID:37198425|PMID:37296576|PMID:37418234|PMID:37477868|PMID:37505369|PMID:37589201|PMID:37833253|PMID:37904629|PMID:37937776|PMID:38050058|PMID:38218330|PMID:38254962|PMID:38489124|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11790773|PMID:15489853|PMID:16101641|PMID:16199547|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17556197|PMID:17576681|PMID:18167567|PMID:18382419|PMID:18662195|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20829228|PMID:20857253|PMID:21062920|PMID:21378009|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22214898|PMID:22781308|PMID:23183494|PMID:23299917|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23911551|PMID:23962865|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24352520|PMID:24503780|PMID:24576884|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24832006|PMID:24967631|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26467025|PMID:26569459|PMID:26590176|PMID:26676851|PMID:26743238|PMID:26850880|PMID:26887364|PMID:27005929|PMID:27030002|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27532257|PMID:27930701|PMID:28045975|PMID:28097316|PMID:28166282|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28767663|PMID:28807990|PMID:29038103|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29253866|PMID:29288195|PMID:29456632|PMID:29606362|PMID:29802319|PMID:29940860|PMID:29961461|PMID:29997227|PMID:30161220|PMID:30354609|PMID:30385303|PMID:30471092|PMID:30562116|PMID:30656044|PMID:30662450|PMID:30685992|PMID:30763825|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30830208|PMID:30847666|PMID:31189615|PMID:31319917|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31539150|PMID:31702781|PMID:31737537|PMID:31983221|PMID:32102357|PMID:32268277|PMID:32368696|PMID:32372669|PMID:32389048|PMID:32397162|PMID:32443836|PMID:32458740|PMID:32508047|PMID:32553227|PMID:32659924|PMID:33029862|PMID:33087929|PMID:33179747|PMID:33207704|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33919104|PMID:3396983|PMID:34120153|PMID:34134068|PMID:34135346|PMID:34191271|PMID:34426522|PMID:34469894|PMID:34486814|PMID:34550725|PMID:34816084|PMID:35026164|PMID:35059364|PMID:35536239|PMID:35653365|PMID:35712781|PMID:35753512|PMID:35766183|PMID:35819174|PMID:35838873|PMID:35947370|PMID:36008935|PMID:36129056|PMID:36136372|PMID:36138163|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36588553|PMID:36720007|PMID:37418234|PMID:37477868|PMID:37833253|PMID:37904629|PMID:37937776|PMID:38050058|PMID:38254962|PMID:38627794|PMID:39260623|PMID:39844436|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:1550508	D	RGD:18337277|PMID:28714806	20250331	RGD		mRNA:increased expression:prefrontal cortex (mouse)	
1306533	Pkp2	plakophilin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26676851|PMID:28492532|PMID:31539150
1306533	Pkp2	plakophilin 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1315204	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1306533	Pkp2	plakophilin 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1315204	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:15489853|PMID:16549640|PMID:17010805|PMID:17041889|PMID:18382419|PMID:19358943|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21606390|PMID:23810883|PMID:23812740|PMID:23911551|PMID:24033266|PMID:24585727|PMID:25525159|PMID:25741868|PMID:26743238|PMID:28492532|PMID:28807990|PMID:29128982|PMID:30354609|PMID:30765282|PMID:31386562|PMID:31402444|PMID:31447099|PMID:32372669
1306533	Pkp2	plakophilin 2	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1315204	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction	PMID:21636032|PMID:22214898|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532
1306533	Pkp2	plakophilin 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:22170284|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24352520|PMID:25395996|PMID:25741868|PMID:26676851|PMID:27085656|PMID:27711072|PMID:28341588|PMID:28492532|PMID:31539150
1306533	Pkp2	plakophilin 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26676851|PMID:28492532|PMID:31539150
1306533	Pkp2	plakophilin 2	gene	DOID:0110070	arrhythmogenic right ventricular dysplasia 1		ISO	RGD:1315204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1	PMID:25741868
1306533	Pkp2	plakophilin 2	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:1315204	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306533	Pkp2	plakophilin 2	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:1315204	D	RGD:7240710	20130221	OMIM			
1306533	Pkp2	plakophilin 2	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:1315204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9	PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16799251|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17576681|PMID:17908752|PMID:18167567|PMID:18382419|PMID:18662195|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20573160|PMID:20829228|PMID:20857253|PMID:21062920|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22170284|PMID:22214898|PMID:22781308|PMID:22798562|PMID:22889254|PMID:23183494|PMID:23299917|PMID:23354045|PMID:23396983|PMID:23486541|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23911551|PMID:23962865|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24352520|PMID:24503780|PMID:24576884|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24832006|PMID:24967631|PMID:24981977|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25525159|PMID:25611685|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25667661|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26467025|PMID:26569459|PMID:26590176|PMID:26676851|PMID:26701096|PMID:26743238|PMID:26850880|PMID:26887364|PMID:27005929|PMID:27030002|PMID:27085656|PMID:27114410|PMID:27122407|PMID:27153395|PMID:27532257|PMID:27930701|PMID:28045975|PMID:28069705|PMID:28097316|PMID:28166282|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28491739|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28807990|PMID:29038103|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29343803|PMID:29447731|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29606362|PMID:29802319|PMID:29940860|PMID:29961461|PMID:29977873|PMID:29997227|PMID:30161220|PMID:30354609|PMID:30385303|PMID:30471092|PMID:30562116|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30699244|PMID:30763825|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30985088|PMID:31189615|PMID:31319917|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31539150|PMID:31638835|PMID:31648988|PMID:31702781|PMID:31737537|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32268277|PMID:32372669|PMID:32389048|PMID:32397162|PMID:32443836|PMID:32458740|PMID:32508047|PMID:32553227|PMID:32659924|PMID:32870709|PMID:33029862|PMID:33087929|PMID:33179747|PMID:33207704|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33684294|PMID:33949037|PMID:33954932|PMID:33968641|PMID:3396983|PMID:34008892|PMID:34120153|PMID:34134068|PMID:34135346|PMID:34191271|PMID:34363016|PMID:34426522|PMID:34469894|PMID:34540771|PMID:34550725|PMID:34816084|PMID:35026164|PMID:35059364|PMID:35536239|PMID:35627167|PMID:35653365|PMID:35712781|PMID:35727495|PMID:35753512|PMID:35766183|PMID:35803546|PMID:35819174|PMID:35838873|PMID:35932045|PMID:35947370|PMID:36008935|PMID:36129056|PMID:36136372|PMID:36138163|PMID:36139162|PMID:36264615|PMID:36291626|PMID:36352534|PMID:36556128|PMID:36578016|PMID:36588553|PMID:36720007|PMID:37418234|PMID:37477868|PMID:37833253|PMID:37904629|PMID:37937776|PMID:38050058|PMID:38254962|PMID:38336791|PMID:38627794|PMID:39071538|PMID:39260623|PMID:9536098
1306533	Pkp2	plakophilin 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1315204	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:22170284|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24352520|PMID:25395996|PMID:25741868|PMID:26676851|PMID:27085656|PMID:27711072|PMID:28166811|PMID:28341588|PMID:28492532|PMID:31539150
1306533	Pkp2	plakophilin 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1315204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26676851|PMID:28492532|PMID:31539150
1306533	Pkp2	plakophilin 2	gene	DOID:0110454	dilated cardiomyopathy 1S		ISO	RGD:1315204	D	RGD:8554872	20200707	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1S	PMID:25741868
1306533	Pkp2	plakophilin 2	gene	DOID:1059	intellectual disability		ISO	RGD:1315204	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:15489853|PMID:16549640|PMID:17010805|PMID:17041889|PMID:18382419|PMID:19358943|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21606390|PMID:23810883|PMID:23812740|PMID:23911551|PMID:24033266|PMID:24125834|PMID:24585727|PMID:25525159|PMID:25741868|PMID:25765472|PMID:26743238|PMID:27532257|PMID:28471438|PMID:28491739|PMID:28492532|PMID:28807990|PMID:29128982|PMID:30354609|PMID:30765282|PMID:31386562|PMID:31402444|PMID:31447099|PMID:32372669|PMID:35536239|PMID:35653365|PMID:35727495|PMID:36264615
1306533	Pkp2	plakophilin 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
1306533	Pkp2	plakophilin 2	gene	DOID:12849	autistic disorder		ISO	RGD:1315204	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:15489853|PMID:16549640|PMID:17010805|PMID:17041889|PMID:18382419|PMID:19358943|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21606390|PMID:22781308|PMID:23810883|PMID:23812740|PMID:23911551|PMID:24033266|PMID:24585727|PMID:25525159|PMID:25741868|PMID:26743238|PMID:28492532|PMID:28807990|PMID:29128982|PMID:30354609|PMID:30765282|PMID:31386562|PMID:31402444|PMID:31447099|PMID:32372669
1306533	Pkp2	plakophilin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:20400443|PMID:21378009|PMID:2163603|PMID:21636032|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:26220970|PMID:26743238|PMID:27066507|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28492532|PMID:28750076|PMID:31333075|PMID:31568572|PMID:32906206|PMID:33919104
1306533	Pkp2	plakophilin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:20400443|PMID:21378009|PMID:2163603|PMID:21636032|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:26220970|PMID:26743238|PMID:27066507|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28492532|PMID:28750076|PMID:31333075|PMID:31568572|PMID:32906206|PMID:33552729|PMID:33919104|PMID:35932045
1306533	Pkp2	plakophilin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:20400443|PMID:21378009|PMID:2163603|PMID:21636032|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:26220970|PMID:26743238|PMID:27066507|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28492532|PMID:28750076|PMID:31333075|PMID:31568572|PMID:32906206|PMID:33552729|PMID:33919104|PMID:35932045|PMID:36178741
1306533	Pkp2	plakophilin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23396983|PMID:23861362|PMID:24503780|PMID:25741868|PMID:26220970|PMID:28492532|PMID:31333075|PMID:31568572
1306533	Pkp2	plakophilin 2	gene	DOID:1324	lung cancer		ISO	RGD:1315204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306533	Pkp2	plakophilin 2	gene	DOID:1826	epilepsy		ISO	RGD:1315204	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:15489853|PMID:16549640|PMID:17010805|PMID:17041889|PMID:18382419|PMID:19358943|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21606390|PMID:23810883|PMID:23812740|PMID:23911551|PMID:24033266|PMID:24585727|PMID:25525159|PMID:25741868|PMID:26743238|PMID:28492532|PMID:28807990|PMID:29128982|PMID:30354609|PMID:30765282|PMID:31386562|PMID:31402444|PMID:31447099|PMID:32372669
1306533	Pkp2	plakophilin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:17041889|PMID:19358943|PMID:20031617|PMID:20857253|PMID:23354045|PMID:23671136|PMID:23810883|PMID:23810894|PMID:24033266|PMID:24632794|PMID:25741868|PMID:25971409|PMID:27030002|PMID:28492532|PMID:29961461|PMID:31402444|PMID:35838873|PMID:36129056|PMID:37418234
1306533	Pkp2	plakophilin 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1315204	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:16567567|PMID:17521752|PMID:18662195|PMID:19533476|PMID:19569224|PMID:19955750|PMID:20129281|PMID:20400443|PMID:20829228|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21636032|PMID:21859740|PMID:23137101|PMID:23299917|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24352520|PMID:24618965|PMID:24704780|PMID:24832006|PMID:25351510|PMID:25637381|PMID:25676813|PMID:25741868|PMID:26138720|PMID:26332594|PMID:26656175|PMID:26743238|PMID:27650965|PMID:27930701|PMID:28166282|PMID:28341588|PMID:28492532|PMID:29288195|PMID:29582136|PMID:30615648
1306533	Pkp2	plakophilin 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1315204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:16567567|PMID:17521752|PMID:18662195|PMID:19533476|PMID:19569224|PMID:19955750|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20829228|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21636032|PMID:21859740|PMID:23137101|PMID:23299917|PMID:23651034|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24200904|PMID:24352520|PMID:24618965|PMID:24704780|PMID:24832006|PMID:25351510|PMID:25608792|PMID:25637381|PMID:25676813|PMID:25741868|PMID:26138720|PMID:26332594|PMID:26656175|PMID:26718681|PMID:26743238|PMID:27650965|PMID:27930701|PMID:28166282|PMID:28341588|PMID:28492532|PMID:29288195|PMID:29456632|PMID:29582136|PMID:30615648|PMID:30764827|PMID:30765282|PMID:30847666|PMID:31118017|PMID:31737537|PMID:32880476|PMID:36178741|PMID:38540378
1306533	Pkp2	plakophilin 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306533	Pkp2	plakophilin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306533	Pkp2	plakophilin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306533	Pkp2	plakophilin 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1315204	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: heart failure	PMID:25741868|PMID:28492532
1306533	Pkp2	plakophilin 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1315204	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Arrhythmia | ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:15489853|PMID:16101641|PMID:16549640|PMID:16893920|PMID:17010805|PMID:17041889|PMID:19279339|PMID:19358943|PMID:19427443|PMID:19863551|PMID:19880068|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20857253|PMID:21606396|PMID:22781308|PMID:23183494|PMID:23812740|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24585727|PMID:25741868|PMID:25820315|PMID:28492532|PMID:29997227|PMID:30562116|PMID:30764827|PMID:30790397|PMID:31319917|PMID:31386562|PMID:35059364|PMID:38050058
1306533	Pkp2	plakophilin 2	gene	DOID:9000299	cardiac amyloidosis		ISO	RGD:1315204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY	PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666
1306533	Pkp2	plakophilin 2	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1315204	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:15489853|PMID:25741868|PMID:28492532|PMID:34540771
1306533	Pkp2	plakophilin 2	gene	DOID:9001512	Familial Amyloid Polyneuropathies		ISO	RGD:1315204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial amyloid polyneuropathy	PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666
1306533	Pkp2	plakophilin 2	gene	DOID:9003242	Paresthesia		ISO	RGD:1315204	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysesthesia	PMID:15489853|PMID:16101641|PMID:16549640|PMID:16893920|PMID:17010805|PMID:19279339|PMID:19358943|PMID:19427443|PMID:19863551|PMID:19880068|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20857253|PMID:21606396|PMID:22781308|PMID:23183494|PMID:23812740|PMID:23871674|PMID:24033266|PMID:24585727|PMID:25741868|PMID:25820315|PMID:28492532|PMID:29997227|PMID:30562116|PMID:30764827|PMID:30790397|PMID:31319917|PMID:35059364|PMID:38050058
1306533	Pkp2	plakophilin 2	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1315204	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:15489853|PMID:16101641|PMID:16549640|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:18382419|PMID:19279339|PMID:19358943|PMID:19427443|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21859740|PMID:22781308|PMID:23183494|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24503780|PMID:24585727|PMID:25163546|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25820315|PMID:25825243|PMID:25979592|PMID:26743238|PMID:27153395|PMID:28255936|PMID:28492532|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29247119|PMID:29802319|PMID:29997227|PMID:30354609|PMID:30562116|PMID:30656044|PMID:30764827|PMID:30765282|PMID:30790397|PMID:31319917|PMID:31386562|PMID:31402444|PMID:31447099|PMID:32372669|PMID:35059364|PMID:38050058
1306533	Pkp2	plakophilin 2	gene	DOID:9006065	Arthralgia		ISO	RGD:1315204	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:15489853|PMID:16101641|PMID:16549640|PMID:16893920|PMID:17010805|PMID:19279339|PMID:19358943|PMID:19427443|PMID:19863551|PMID:19880068|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20857253|PMID:21606396|PMID:22781308|PMID:23183494|PMID:23812740|PMID:23871674|PMID:24033266|PMID:24585727|PMID:25741868|PMID:25820315|PMID:28492532|PMID:29997227|PMID:30562116|PMID:30764827|PMID:30790397|PMID:31319917|PMID:35059364|PMID:38050058
1306533	Pkp2	plakophilin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306533	Pkp2	plakophilin 2	gene	DOID:9007288	Left Ventricular Noncompaction 1		ISO	RGD:1315204	D	RGD:8554872	20201015	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction 1	PMID:25741868|PMID:28492532
1306533	Pkp2	plakophilin 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1315204	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature	PMID:15489853|PMID:16415378|PMID:16549640|PMID:17010805|PMID:18554203|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23183494|PMID:23810883|PMID:23812740|PMID:23911551|PMID:24585727|PMID:24784157|PMID:25087486|PMID:25525159|PMID:25741868|PMID:25741869|PMID:26264440|PMID:26676851|PMID:27335691|PMID:27532257|PMID:28177452|PMID:28253841|PMID:28492532|PMID:28518168|PMID:28523642|PMID:29997227|PMID:30677492|PMID:33238575|PMID:35535697|PMID:35579515|PMID:35653365|PMID:37418234
1306533	Pkp2	plakophilin 2	gene	DOID:9007820	Sudden Death		ISO	RGD:1315204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	PMID:15489853|PMID:17010805|PMID:17041889|PMID:20400443|PMID:23183494|PMID:23911551|PMID:24125834|PMID:24704780|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26743238|PMID:26850880|PMID:27332903|PMID:27532257|PMID:28492532|PMID:28588093|PMID:29038103|PMID:29884292|PMID:30571190|PMID:30677492|PMID:30678776|PMID:30700137|PMID:30790397|PMID:32268277|PMID:34120153|PMID:34135346|PMID:38489124
1306533	Pkp2	plakophilin 2	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:1315204	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Sudden cardiac death	PMID:25741868|PMID:27532257|PMID:28492532|PMID:29802319|PMID:31402444
1306533	Pkp2	plakophilin 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17010805|PMID:19880068|PMID:20152563|PMID:23183494|PMID:24967631|PMID:25741868|PMID:28472724|PMID:28492532|PMID:31319917|PMID:32268277|PMID:34135346
1306533	Pkp2	plakophilin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1315204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26676851|PMID:28492532|PMID:31539150
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1315206	D	RGD:13592920	20190516	MouseDO			
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1603014	D	RGD:2314605|PMID:19305425	20091120	RGD		protein:increased expression:prostate, lymph node	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1603014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1603014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:1909	melanoma		ISO	RGD:1603014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:3275	thymoma		ISO	RGD:1603014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603014	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1603014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1603014	D	RGD:2314605|PMID:19305425	20091120	RGD		associated with Prostatic Neoplasms	
1306534	Prex1	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306535	Dcaf5	DDB1 and CUL4 associated factor 5	gene	DOID:10534	stomach cancer		ISO	RGD:1315207	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306535	Dcaf5	DDB1 and CUL4 associated factor 5	gene	DOID:1324	lung cancer		ISO	RGD:1315207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306535	Dcaf5	DDB1 and CUL4 associated factor 5	gene	DOID:1909	melanoma		ISO	RGD:1315207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306535	Dcaf5	DDB1 and CUL4 associated factor 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306535	Dcaf5	DDB1 and CUL4 associated factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306535	Dcaf5	DDB1 and CUL4 associated factor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315209	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1306536	Rrbp1	ribosome binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315209	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306537	Vps28	VPS28 subunit of ESCRT-I	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306537	Vps28	VPS28 subunit of ESCRT-I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306537	Vps28	VPS28 subunit of ESCRT-I	gene	DOID:10534	stomach cancer		ISO	RGD:1315210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306537	Vps28	VPS28 subunit of ESCRT-I	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306537	Vps28	VPS28 subunit of ESCRT-I	gene	DOID:1115	sarcoma		ISO	RGD:1315210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306537	Vps28	VPS28 subunit of ESCRT-I	gene	DOID:1324	lung cancer		ISO	RGD:1315210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306537	Vps28	VPS28 subunit of ESCRT-I	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306537	Vps28	VPS28 subunit of ESCRT-I	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306537	Vps28	VPS28 subunit of ESCRT-I	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306537	Vps28	VPS28 subunit of ESCRT-I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306537	Vps28	VPS28 subunit of ESCRT-I	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306537	Vps28	VPS28 subunit of ESCRT-I	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306537	Vps28	VPS28 subunit of ESCRT-I	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306538	Orai3	ORAI calcium release-activated calcium modulator 3	gene	DOID:1115	sarcoma		ISO	RGD:1602192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306538	Orai3	ORAI calcium release-activated calcium modulator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306538	Orai3	ORAI calcium release-activated calcium modulator 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306538	Orai3	ORAI calcium release-activated calcium modulator 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306539	Scara5	scavenger receptor class A, member 5	gene	DOID:1324	lung cancer		ISO	RGD:1606661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306539	Scara5	scavenger receptor class A, member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:0050474	Netherton syndrome		ISO	RGD:1315213	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20657595
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:0050474	Netherton syndrome		ISO	RGD:1315213	D	RGD:598118747|PMID:19683336	20250919	RGD		protein:decreased expression:skin epidermis, buccal epithelium	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:0050474	Netherton syndrome		ISO	RGD:1315213	D	RGD:7240710	20130221	OMIM			
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:0050474	Netherton syndrome		ISO	RGD:1315213	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: COMEL-NETHERTON SYNDROME | ClinVar Annotator: match by term: Ichthyosis linearis circumflexa | ClinVar Annotator: match by term: NETHERTON SYNDROME | ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome | ClinVar Annotator: match by term: SPINK5-related condition	PMID:10835624|PMID:11511292|PMID:11841556|PMID:12923596|PMID:15304086|PMID:15656819|PMID:16199547|PMID:16601670|PMID:16628198|PMID:17415575|PMID:17576681|PMID:17989726|PMID:19683336|PMID:19840201|PMID:20107740|PMID:21564178|PMID:21692842|PMID:22089833|PMID:23331056|PMID:24015757|PMID:24033266|PMID:24042343|PMID:25640679|PMID:25710899|PMID:25741868|PMID:25819062|PMID:26031502|PMID:26193622|PMID:26229701|PMID:26865388|PMID:27905021|PMID:27988933|PMID:28492532|PMID:28832562|PMID:28943498|PMID:29444371|PMID:29926005|PMID:30293248|PMID:31288584|PMID:32573669|PMID:32709676|PMID:32767583|PMID:33452875|PMID:34671977|PMID:36569942|PMID:9536098
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:0050474	Netherton syndrome		ISS	RGD:1550511	D	RGD:13592920	20230718	MouseDO		OMIM:256500	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1315213	D	RGD:628359023|PMID:24831437	20250919	RGD		DNA:SNP:exon:rs2303064	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1315213	D	RGD:628359033|PMID:25233048	20250919	RGD		DNA:SNPs, haplotypes: :multiple	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:1315213	D	RGD:628359036|PMID:22570283	20250919	RGD		DNA:SNPs: :1103A>G, 1258G>A	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:10534	stomach cancer		ISO	RGD:1315213	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:10754	otitis media		ISO	RGD:1315213	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Susceptibility to nonsyndromic otitis media	PMID:11511292|PMID:25741868|PMID:26865388|PMID:28492532|PMID:32709676
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:1115	sarcoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:1324	lung cancer		ISO	RGD:1315213	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:1555	urticaria		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urticaria	PMID:11511292|PMID:11841556|PMID:22089833|PMID:25741868|PMID:28492532|PMID:28832562
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:1558	angioedema		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angioedema	PMID:11511292|PMID:11841556|PMID:22089833|PMID:25741868|PMID:28492532|PMID:28832562
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:1697	ichthyosis		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:25741868
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:1909	melanoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:2841	asthma		ISO	RGD:1315213	D	RGD:628359021|PMID:15005725	20250919	RGD		DNA:missense mutation:exon:p.E420K (1258G>A)	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:2841	asthma		ISO	RGD:1315213	D	RGD:628359035|PMID:19534795	20250919	RGD		DNA:SNP:promoter:g.-206G>A	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:2841	asthma	no_association	ISO	RGD:1315213	D	RGD:628359022|PMID:15753894	20250919	RGD		DNA:SNP, missense mutations:promoter, :g.-785A>G, p.N368S, p.E420K	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:2841	asthma	no_association	ISO	RGD:1315213	D	RGD:628359035|PMID:19534795	20251103	RGD		DNA:SNP:cds:multiple	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:11511292|PMID:11841556|PMID:22089833|PMID:25741868|PMID:28492532|PMID:28832562
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:3044	food allergy		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Food allergy	PMID:25741868
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:3310	atopic dermatitis		ISO	RGD:1315213	D	RGD:628359020|PMID:14551605	20250919	RGD		DNA:missense mutations: :p.N368S, p.E420K	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:3310	atopic dermatitis		ISO	RGD:1315213	D	RGD:628359030|PMID:12752122	20250919	RGD		DNA:polymorphisms:intron, exon:multiple	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:3310	atopic dermatitis		ISO	RGD:1315213	D	RGD:628359031|PMID:11544479	20250919	RGD		DNA:missense mutations: :p.N368S, p.E420K	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:3310	atopic dermatitis		ISO	RGD:1315213	D	RGD:628359032|PMID:21585560	20250919	RGD		DNA:missense mutations: :1258G>A (p.E420K), 2475G>T (p.E825D)	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:3310	atopic dermatitis		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:11511292|PMID:11841556|PMID:22089833|PMID:25741868|PMID:28492532|PMID:28832562
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:3310	atopic dermatitis	no_association	ISO	RGD:1315213	D	RGD:628359020|PMID:14551605	20250919	RGD		DNA:missense mutations: :p.D106N, p.D386N, p.E825D	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:3310	atopic dermatitis	no_association	ISO	RGD:1315213	D	RGD:628359032|PMID:21585560	20250919	RGD		DNA:missense mutations: :1103A>G (p.N368S),  1156G>A (p.D386N)	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:11511292|PMID:11841556|PMID:16199547|PMID:28492532
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315213	D	RGD:628359041|PMID:26413216	20250919	RGD		mRNA:decreased expression:hypopharynx, larynx	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:630	genetic disease		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:9000954	Parakeratosis		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parakeratosis	PMID:25741868
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315213	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:1315213	D	RGD:628359031|PMID:11544479	20250919	RGD		DNA:missense mutations: :p.N368S, p.E420K	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:9006202	Pruritus		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pruritus	PMID:11511292|PMID:11841556|PMID:22089833|PMID:25741868|PMID:28492532|PMID:28832562
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:9006215	Exfoliative Dermatitis		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Erythroderma	PMID:11511292|PMID:11841556|PMID:22089833|PMID:25741868|PMID:28492532|PMID:28832562|PMID:32573669
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:9007356	Eczema		ISO	RGD:1315213	D	RGD:5130731|PMID:20085599	20250919	RGD		DNA:polymorphisms: :multiple	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1315213	D	RGD:628359029|PMID:18588753	20250919	RGD		mRNA, protein:decreased expression:nasal cavity mucosa	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1315213	D	RGD:628359036|PMID:22570283	20250919	RGD		associated with aspirin-induced respiratory disease;mRNA:decreased expression:nasal cavity mucosa	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:9009382	eosinophilic chronic rhinosinusitis		ISO	RGD:1315213	D	RGD:628359037|PMID:27779422	20250919	RGD		mRNA, protein:decreased expression:nasal cavity epithelium	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:9009382	eosinophilic chronic rhinosinusitis		ISO	RGD:1550511	D	RGD:628359037|PMID:27779422	20250919	RGD		protein:decreased expression:nose, oronasal secretion	
1306540	Spink5	serine peptidase inhibitor, Kazal type 5	gene	DOID:9009384	centrilobular emphysema		ISO	RGD:1315213	D	RGD:628359028|PMID:32101459	20250919	RGD		protein:decreased expression:lung	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:10534	stomach cancer		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:1115	sarcoma		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:1324	lung cancer		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:1909	melanoma		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:2394	ovarian cancer		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:3275	thymoma		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:4362	cervical cancer		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1315215	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1315215	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21986133
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306541	Pik3c2b	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:0081122	Catel Manzke syndrome		ISO	RGD:1315219	D	RGD:7240710	20171011	OMIM			
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:0081122	Catel Manzke syndrome		ISO	RGD:1315219	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CATEL-MANZKE SYNDROME | ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: TGDS-related condition	PMID:25480037|PMID:25741868|PMID:26366375|PMID:28422407|PMID:28492532|PMID:31769200|PMID:31833187
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:0081122	Catel Manzke syndrome		ISS	RGD:1552485	D	RGD:13592920	20251002	MouseDO		OMIM:616145	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:10534	stomach cancer		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:12215	oligohydramnios		ISO	RGD:1315219	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25480037|PMID:25741868|PMID:26366375|PMID:28422407|PMID:28492532|PMID:31769200|PMID:31833187
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:1657	ventricular septal defect		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:1909	melanoma		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:4362	cervical cancer		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:630	genetic disease		ISO	RGD:1315219	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25480037|PMID:25741868|PMID:26366375|PMID:28422407|PMID:28492532|PMID:31769200|PMID:31833187
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:674	cleft palate		ISO	RGD:1315219	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25480037|PMID:25741868|PMID:26366375|PMID:28422407|PMID:28492532|PMID:31769200|PMID:31833187
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:8488	polyhydramnios		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:9001581	Constipation		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:9003507	Premature Birth		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:9005616	Micrognathism		ISO	RGD:1315219	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25480037|PMID:25741868|PMID:26366375|PMID:28422407|PMID:28492532|PMID:31769200|PMID:31833187
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:9007661	Dwarfism		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:9256	colorectal cancer		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306544	Tgds	TDP-glucose 4,6-dehydratase	gene	DOID:930	orbital disease		ISO	RGD:1315219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	
1306546	Gsg1	germ cell associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306546	Gsg1	germ cell associated 1	gene	DOID:1909	melanoma		ISO	RGD:1315222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306546	Gsg1	germ cell associated 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306546	Gsg1	germ cell associated 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315222	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306547	Myef2	myelin expression factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1315223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306547	Myef2	myelin expression factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1315223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306547	Myef2	myelin expression factor 2	gene	DOID:1909	melanoma		ISO	RGD:1315223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306547	Myef2	myelin expression factor 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306547	Myef2	myelin expression factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306547	Myef2	myelin expression factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306547	Myef2	myelin expression factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306547	Myef2	myelin expression factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306547	Myef2	myelin expression factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306548	Stard10	StAR-related lipid transfer domain containing 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306548	Stard10	StAR-related lipid transfer domain containing 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1315225	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306548	Stard10	StAR-related lipid transfer domain containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306548	Stard10	StAR-related lipid transfer domain containing 10	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315225	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1306548	Stard10	StAR-related lipid transfer domain containing 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306548	Stard10	StAR-related lipid transfer domain containing 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1315225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306550	Slitrk6	SLIT and NTRK-like family, member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306550	Slitrk6	SLIT and NTRK-like family, member 6	gene	DOID:0111628	high myopia-sensorineural deafness syndrome		ISO	RGD:1315229	D	RGD:7240710	20171011	OMIM			
1306550	Slitrk6	SLIT and NTRK-like family, member 6	gene	DOID:0111628	high myopia-sensorineural deafness syndrome		ISO	RGD:1315229	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS AND MYOPIA | ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome | ClinVar Annotator: match by term: SLITRK6-related condition	PMID:23543054|PMID:23946138|PMID:24033266|PMID:25363768|PMID:25741868|PMID:28407358|PMID:28492532|PMID:30311386|PMID:34515852|PMID:36703223
1306550	Slitrk6	SLIT and NTRK-like family, member 6	gene	DOID:0111628	high myopia-sensorineural deafness syndrome		ISS	RGD:1315230	D	RGD:13592920	20230718	MouseDO		OMIM:221200	
1306550	Slitrk6	SLIT and NTRK-like family, member 6	gene	DOID:10003	sensorineural hearing loss		ISS	RGD:1315230	D	RGD:13592920	20180518	MouseDO		OMIM:304400	
1306550	Slitrk6	SLIT and NTRK-like family, member 6	gene	DOID:630	genetic disease		ISO	RGD:1315229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:30311386
1306550	Slitrk6	SLIT and NTRK-like family, member 6	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532|PMID:30311386
1306550	Slitrk6	SLIT and NTRK-like family, member 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315229	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741897
1306551	Bloc1s2	biogenesis of lysosomal organelles complex-1, subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306551	Bloc1s2	biogenesis of lysosomal organelles complex-1, subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306551	Bloc1s2	biogenesis of lysosomal organelles complex-1, subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306551	Bloc1s2	biogenesis of lysosomal organelles complex-1, subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306551	Bloc1s2	biogenesis of lysosomal organelles complex-1, subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315231	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306551	Bloc1s2	biogenesis of lysosomal organelles complex-1, subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306551	Bloc1s2	biogenesis of lysosomal organelles complex-1, subunit 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315231	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306551	Bloc1s2	biogenesis of lysosomal organelles complex-1, subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306551	Bloc1s2	biogenesis of lysosomal organelles complex-1, subunit 2	gene	DOID:9007194	Sciatica		IMP		D	RGD:2302154|PMID:16176350	20081121	RGD			
1306551	Bloc1s2	biogenesis of lysosomal organelles complex-1, subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050645	arterial tortuosity syndrome		ISO	RGD:1315233	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050645	arterial tortuosity syndrome		ISO	RGD:1315233	D	RGD:7240710	20130221	OMIM			
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050645	arterial tortuosity syndrome		ISO	RGD:1315233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARTERIAL TORTUOSITY SYNDROME | ClinVar Annotator: match by term: Arterial tortuosity | ClinVar Annotator: match by term: Arterial tortuosity syndrome | ClinVar Annotator: match by term: SLC2A10-related condition	PMID:16199547|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18565096|PMID:18774132|PMID:18818946|PMID:19781076|PMID:22488877|PMID:23410549|PMID:23494979|PMID:24033266|PMID:25373504|PMID:25392904|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28655553|PMID:28726533|PMID:28756087|PMID:28829359|PMID:28855619|PMID:29323665|PMID:29543232|PMID:29843651|PMID:29907982|PMID:30090112|PMID:30425910|PMID:31203799|PMID:32368696|PMID:33461977|PMID:34384376|PMID:34498425|PMID:34668355|PMID:34847858|PMID:35918752|PMID:36578839|PMID:37619836|PMID:9335548|PMID:9536098
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050840	cervical dystonia		ISO	RGD:1315233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:17935213|PMID:18774132|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050847	sleep apnea		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0060249	scoliosis		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0060313	tracheomalacia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34847858
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0060320	inguinal hernia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:34847858
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0060321	umbilical hernia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:34847858
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1315233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:18774132|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0080821	exercise-induced bronchoconstriction		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Exercise-induced asthma	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:0080833	laryngomalacia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:10126	keratoconus		ISO	RGD:1315233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Keratoconus	PMID:17935213|PMID:18774132|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:10480	diaphragmatic eventration		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diaphragmatic eventration	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:10534	stomach cancer		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:10608	celiac disease		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:11111	hydronephrosis		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:11353	bladder diverticulum		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diverticulum of bladder	PMID:17935213|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:11782	astigmatism		ISO	RGD:1315233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:17935213|PMID:18774132|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:11830	myopia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34498425|PMID:34847858
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:12642	hiatus hernia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:16550171|PMID:17935213|PMID:18565096|PMID:18774132|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34847858|PMID:36578839
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:1324	lung cancer		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:34847858
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25741868|PMID:25944730|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:9536098
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:9536098
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:34847858|PMID:9536098
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:34847858|PMID:9536098
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:34847858|PMID:35918752|PMID:9536098
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:30425910|PMID:33144682|PMID:34498425|PMID:34668355|PMID:34847858|PMID:35918752|PMID:9536098
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:30425910|PMID:33144682|PMID:34498425|PMID:34668355|PMID:34847858|PMID:35918752|PMID:38265806|PMID:9536098
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25373504|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:30425910|PMID:33144682|PMID:34498425|PMID:34668355|PMID:34847858|PMID:35462107|PMID:35918752|PMID:38265806|PMID:9536098
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25373504|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29843651|PMID:29907982|PMID:30090112|PMID:30425910|PMID:33144682|PMID:34498425|PMID:34668355|PMID:34847858|PMID:35462107|PMID:35918752|PMID:38265806|PMID:9536098
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19622975|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25373504|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28152038|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29843651|PMID:29907982|PMID:30090112|PMID:30425910|PMID:33144682|PMID:34498425|PMID:34668355|PMID:34847858|PMID:35462107|PMID:35918752|PMID:38265806|PMID:9536098
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16550171|PMID:17163528|PMID:17935213|PMID:18774132|PMID:19622975|PMID:19781076|PMID:22488877|PMID:23494979|PMID:24033266|PMID:25373504|PMID:25392904|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28152038|PMID:28492532|PMID:28655553|PMID:28726533|PMID:28756087|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29843651|PMID:29907982|PMID:30090112|PMID:30425910|PMID:31203799|PMID:34498425|PMID:34668355|PMID:34847858|PMID:35918752|PMID:36578839|PMID:9335548
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1315233	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type	PMID:28492532
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:1596	depressive disorder		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:1657	ventricular septal defect		ISO	RGD:1315233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:17935213|PMID:18774132|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:1909	melanoma		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:2030	anxiety disorder		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:2841	asthma		ISO	RGD:1315233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:17935213|PMID:18774132|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:3087	gingivitis		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:3275	thymoma		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:3627	aortic aneurysm		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm | ClinVar Annotator: match by term: Aortic dilatation	PMID:16550171|PMID:17935213|PMID:18565096|PMID:18774132|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34847858|PMID:36578839
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:480	movement disease		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1315233	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:520	aortic disease		ISO	RGD:1315233	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial aortopathy	PMID:16550171|PMID:17935213|PMID:18565096|PMID:18774132|PMID:25373504|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30090112|PMID:30425910|PMID:36578839
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9001031	Retrognathia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:34847858
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1315233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nasal polyposis	PMID:17935213|PMID:18774132|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9001516	Familial Thoracic Aortic Aneurysm 6		ISO	RGD:1315233	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6	PMID:25741868|PMID:28492532
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9001665	Aneurysm		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aneurysm	PMID:17935213|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:29543232
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9001733	Tinnitus		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9003279	Joint Dislocations		ISO	RGD:1315233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint dislocation	PMID:17935213|PMID:18774132|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9003539	Hyperacusis		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9005077	Joint Instability		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:16550171|PMID:17935213|PMID:18565096|PMID:18774132|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34498425|PMID:36578839
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9005616	Micrognathism		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34847858
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:1315233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:16550171|PMID:17935213|PMID:18774132|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34847858
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9007559	Thyroglossal Cyst		ISO	RGD:1315233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroglossal cyst	PMID:17935213|PMID:18774132|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9007573	Flatfoot		ISO	RGD:1315233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:16550171|PMID:18565096|PMID:18774132|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:36578839
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:16550171|PMID:17935213|PMID:19781076|PMID:22488877|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:34847858
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9007736	Vertigo		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9008023	Memory Disorders		ISO	RGD:1315233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:34498425
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1315233	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151356
1306552	Slc2a10	solute carrier family 2 member 10	gene	DOID:9834	hyperopia		ISO	RGD:1315233	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17935213|PMID:19781076|PMID:23494979|PMID:25741868|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:30425910|PMID:34498425
1306553	Armc5	armadillo repeat containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306553	Armc5	armadillo repeat containing 5	gene	DOID:0111623	ACTH-independent macronodular adrenal hyperplasia 1		ISO	RGD:1315235	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1306553	Armc5	armadillo repeat containing 5	gene	DOID:0111624	ACTH-independent macronodular adrenal hyperplasia 2		ISO	RGD:1315235	D	RGD:7240710	20170215	OMIM			
1306553	Armc5	armadillo repeat containing 5	gene	DOID:0111624	ACTH-independent macronodular adrenal hyperplasia 2		ISO	RGD:1315235	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 | ClinVar Annotator: match by term: ACTH-independent macronodular adrenal hyperplasia 2 | ClinVar Annotator: match by term: ARMC5-related condition	PMID:24283224|PMID:24708098|PMID:25741868|PMID:26604299|PMID:27094308|PMID:28492532|PMID:32117062|PMID:35687106|PMID:36548967|PMID:36727580|PMID:38225631
1306553	Armc5	armadillo repeat containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306553	Armc5	armadillo repeat containing 5	gene	DOID:1909	melanoma		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306553	Armc5	armadillo repeat containing 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306553	Armc5	armadillo repeat containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306553	Armc5	armadillo repeat containing 5	gene	DOID:630	genetic disease		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306553	Armc5	armadillo repeat containing 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306553	Armc5	armadillo repeat containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1315237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:182	calcinosis		ISO	RGD:1315237	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25938945
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315237	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:630	genetic disease		ISO	RGD:1315237	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:679	basal ganglia disease		ISO	RGD:1315237	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25938945
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:9005299	Idiopathic Basal Ganglia Calcification 6		ISO	RGD:1315237	D	RGD:7240710	20170301	OMIM			
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:9005299	Idiopathic Basal Ganglia Calcification 6		ISO	RGD:1315237	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 | ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related condition | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification | ClinVar Annotator: match by term: basal ganglia calcification, idiopathic, 6	PMID:25741868|PMID:25938945|PMID:28492532|PMID:31003906|PMID:36344539
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:9007546	Idiopathic Basal Ganglia Calcification 1		ISO	RGD:1315237	D	RGD:11554173	20250708	CTD		CTD Direct Evidence: marker/mechanism	
1306554	Xpr1	xenotropic and polytropic retrovirus receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306555	Klc4	kinesin light chain 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306555	Klc4	kinesin light chain 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306555	Klc4	kinesin light chain 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306555	Klc4	kinesin light chain 4	gene	DOID:1115	sarcoma		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306555	Klc4	kinesin light chain 4	gene	DOID:1909	melanoma		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306555	Klc4	kinesin light chain 4	gene	DOID:3070	high grade glioma		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306555	Klc4	kinesin light chain 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306555	Klc4	kinesin light chain 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1315239	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306555	Klc4	kinesin light chain 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306555	Klc4	kinesin light chain 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306555	Klc4	kinesin light chain 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306555	Klc4	kinesin light chain 4	gene	DOID:9009333	NEURODEGENERATION, EARLY-CHILDHOOD-ONSET, WITH RETINITIS PIGMENTOSA, SENSORINEURAL HEARING LOSS, AND DEMYELINATING PERIPHERAL NEUROPATHY		ISO	RGD:1315239	D	RGD:7240710	20250430	OMIM			
1306555	Klc4	kinesin light chain 4	gene	DOID:9009333	NEURODEGENERATION, EARLY-CHILDHOOD-ONSET, WITH RETINITIS PIGMENTOSA, SENSORINEURAL HEARING LOSS, AND DEMYELINATING PERIPHERAL NEUROPATHY		ISO	RGD:1315239	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy	PMID:25741868
1306556	Kiaa1671	KIAA1671 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2311473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306556	Kiaa1671	KIAA1671 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2311473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306556	Kiaa1671	KIAA1671 homolog	gene	DOID:1115	sarcoma		ISO	RGD:2311473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306556	Kiaa1671	KIAA1671 homolog	gene	DOID:3275	thymoma		ISO	RGD:2311473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306556	Kiaa1671	KIAA1671 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2311473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306556	Kiaa1671	KIAA1671 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:2311473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306557	Hdhd5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306557	Hdhd5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306557	Hdhd5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306557	Hdhd5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306557	Hdhd5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:3275	thymoma		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306557	Hdhd5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306557	Hdhd5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306557	Hdhd5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306557	Hdhd5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306558	Mrps9	mitochondrial ribosomal protein S9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306558	Mrps9	mitochondrial ribosomal protein S9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306558	Mrps9	mitochondrial ribosomal protein S9	gene	DOID:10534	stomach cancer		ISO	RGD:1315244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306558	Mrps9	mitochondrial ribosomal protein S9	gene	DOID:1324	lung cancer		ISO	RGD:1315244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306558	Mrps9	mitochondrial ribosomal protein S9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306558	Mrps9	mitochondrial ribosomal protein S9	gene	DOID:4362	cervical cancer		ISO	RGD:1315244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306558	Mrps9	mitochondrial ribosomal protein S9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306558	Mrps9	mitochondrial ribosomal protein S9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306558	Mrps9	mitochondrial ribosomal protein S9	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306558	Mrps9	mitochondrial ribosomal protein S9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306558	Mrps9	mitochondrial ribosomal protein S9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:0111996	immunodeficiency 51		ISO	RGD:1315246	D	RGD:7240710	20140903	OMIM			
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:0111996	immunodeficiency 51		ISO	RGD:1315246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: IMMUNODEFICIENCY 51 | ClinVar Annotator: match by term: Immunodeficiency 51	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26871944|PMID:27930337|PMID:28492532|PMID:9536098
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:10533	viral pneumonia		ISO	RGD:1315246	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:10534	stomach cancer		ISO	RGD:1315246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:2058	chronic mucocutaneous candidiasis		ISO	RGD:1315246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis	PMID:16670328|PMID:18802100|PMID:21178015|PMID:21350122|PMID:25741868|PMID:27930337
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:2316	brain ischemia		ISO	RGD:1315246	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:4362	cervical cancer		ISO	RGD:1315246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:5041	esophageal cancer		ISO	RGD:1315246	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1315247	D	RGD:5144217|PMID:19414809	20110802	RGD			
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:8893	psoriasis		ISO	RGD:1315246	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Psoriasis	
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:9001488	Human Influenza		ISO	RGD:1315247	D	RGD:4889102|PMID:19783685	20110802	RGD			
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	IEP		D	RGD:151665755|PMID:30346985	20220331	RGD			
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:9005372	Inflammation		ISO	RGD:1315246	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29724254
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306559	Il17ra	interleukin 17 receptor A	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1315247	D	RGD:5144212|PMID:21647421	20110802	RGD			
1306560	Rem1	RRAD and GEM like GTPase 1	gene	DOID:1324	lung cancer		ISO	RGD:1315248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306560	Rem1	RRAD and GEM like GTPase 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1315248	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1306560	Rem1	RRAD and GEM like GTPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306561	Reep4	receptor accessory protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306561	Reep4	receptor accessory protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306561	Reep4	receptor accessory protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1315250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306561	Reep4	receptor accessory protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1315250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306561	Reep4	receptor accessory protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306561	Reep4	receptor accessory protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306561	Reep4	receptor accessory protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:0090139	cortisone reductase deficiency		ISO	RGD:1315252	D	RGD:11554173	20180807	CTD		CTD Direct Evidence: marker/mechanism	
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:0090139	cortisone reductase deficiency		ISO	RGD:1315252	D	RGD:1625067|PMID:12858176	20070518	RGD		DNA:point mutation:CDS:p.R453Q (human)	
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:0090141	cortisone reductase deficiency 1		ISO	RGD:1315252	D	RGD:7240710	20180802	OMIM			
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:0090141	cortisone reductase deficiency 1		ISO	RGD:1315252	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORTISONE REDUCTASE DEFICIENCY 1 | ClinVar Annotator: match by term: Cortisone reductase deficiency 1 | ClinVar Annotator: match by term: H6PD-related condition	PMID:16356929|PMID:18628520|PMID:25741868|PMID:28492532
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:10534	stomach cancer		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:2377	multiple sclerosis		ISO	RGD:1315252	D	RGD:6784513|PMID:19935835	20120801	RGD		DNA:SNP:exon: rs17368528 (human)	
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:3070	high grade glioma		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:3275	thymoma		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:4362	cervical cancer		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:630	genetic disease		ISO	RGD:1315252	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:9005643	Experimental Diabetes Mellitus		IDA		D	RGD:6784507|PMID:20923496	20120801	RGD			
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1315252	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29295867
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306562	H6pd	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306563	Ftmt	ferritin mitochondrial	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1306564	Srl	sarcalumenin	gene	DOID:1115	sarcoma		ISO	RGD:1315254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306564	Srl	sarcalumenin	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:126758770	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Broad thumb-hallux syndrome	PMID:15706485|PMID:28492532
1306564	Srl	sarcalumenin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306564	Srl	sarcalumenin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306564	Srl	sarcalumenin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18342293
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:10976	membranous glomerulonephritis		IEP		D	RGD:10412641|PMID:18178252	20151118	RGD		protein:increased activity,protein:renal glomerulus:	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:12858	Huntington's disease		ISO	RGD:1315044	D	RGD:10412311|PMID:19646509	20151116	RGD		protein:increased expression:cortex,striatum,nucleus:	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:12858	Huntington's disease	onset	ISO	RGD:1315043	D	RGD:10412314|PMID:18327563	20151116	RGD		DNa:SNO:promoter:rs5880308(human)	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:1315044	D	RGD:10412311|PMID:19646509	20151116	RGD			
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:1324	lung cancer		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:14330	Parkinson's disease		ISO	RGD:1315043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21815648
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:1561	cognitive disorder		ISO	RGD:1315044	D	RGD:10412307|PMID:24371084	20151116	RGD		associated with Chronic Cerebral Hypoperfusion;	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:1909	melanoma		ISO	RGD:1315043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22197930
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:1909	melanoma		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:10412334|PMID:23137546	20151117	RGD		protein:increased nitrosylation, activity:hippocampus:	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1315044	D	RGD:10412312|PMID:15910777	20151116	RGD		protein:hyperphosphorylation:motor neuron:	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:3526	cerebral infarction	treatment	IMP		D	RGD:10412642|PMID:23968852	20151118	RGD			
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1315043	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:5844	myocardial infarction	treatment	IMP		D	RGD:10412335|PMID:22635076	20151117	RGD			
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:6000	congestive heart failure		ISO	RGD:1315044	D	RGD:10412331|PMID:17562954	20151117	RGD		protein:increased activity:heart:	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1315043	D	RGD:10412640|PMID:20716917	20151118	RGD		protein:increased expression:intestine:	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:10412645|PMID:10331432	20151118	RGD		protein:increased expression:white matter and grey matter:	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	IEP		D	RGD:35316073|PMID:30226536	20200708	RGD			
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9000945	Ventilator-Induced Lung Injury		IEP		D	RGD:10412643|PMID:24126891	20151118	RGD		protein:hyperphosphorylation:lung:	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9002056	Arterial Injury		ISO	RGD:1315044	D	RGD:10412321|PMID:14638553	20151117	RGD			
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1315043	D	RGD:10412332|PMID:16331767	20151117	RGD			
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9002514	Neointima	treatment	IMP		D	RGD:10412321|PMID:14638553	20151117	RGD			
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9003676	Brain Hypoxia-Ischemia		IEP		D	RGD:9587791|PMID:21843499	20141020	RGD			
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1315043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18342293
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9006182	Carotid Artery Injuries		IEP		D	RGD:10412321|PMID:14638553	20151117	RGD		protein:increased activity:carotid artery:	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	IMP		D	RGD:10412647|PMID:23952292	20151118	RGD			
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9007090	Experimental Seizures		IEP		D	RGD:2298728|PMID:12786973	20151117	RGD		protein:increased expression:CA1 field of hippocampus:	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:1315044	D	RGD:10412322|PMID:14665690	20151117	RGD		protein:increased activity:heart:	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1315043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18700144
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	IEP		D	RGD:155230831|PMID:31583047	20220923	RGD			
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9007970	Chronic Cerebral Hypoperfusion		ISO	RGD:1315044	D	RGD:10412307|PMID:24371084	20151116	RGD		protein:hyperphosphorylation:brain:	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306565	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9351	diabetes mellitus		ISO	RGD:1315043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16731828
1306566	Dst	dystonin	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605439	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1306566	Dst	dystonin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306566	Dst	dystonin	gene	DOID:0050591	tooth agenesis		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypodontia	
1306566	Dst	dystonin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306566	Dst	dystonin	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1605439	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1306566	Dst	dystonin	gene	DOID:0061260	congenital myopathy 29		ISO	RGD:1605439	D	RGD:7240710	20260408	OMIM			
1306566	Dst	dystonin	gene	DOID:0061260	congenital myopathy 29		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 29 WITH CONTRACTURES	
1306566	Dst	dystonin	gene	DOID:0061268	lethal congenital contracture syndrome 12		ISO	RGD:1605439	D	RGD:7240710	20260408	OMIM			
1306566	Dst	dystonin	gene	DOID:0061268	lethal congenital contracture syndrome 12		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LETHAL CONGENITAL CONTRACTURE SYNDROME 12	PMID:22522446|PMID:25059916|PMID:28492532|PMID:30371979
1306566	Dst	dystonin	gene	DOID:0070151	hereditary sensory and autonomic neuropathy type 6		ISO	RGD:1605439	D	RGD:7240710	20140911	OMIM			
1306566	Dst	dystonin	gene	DOID:0070151	hereditary sensory and autonomic neuropathy type 6		ISO	RGD:1605439	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HSAN VI | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 6 | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VI | ClinVar Annotator: match by term: hereditary sensory and autonomic neuropathy type 6	PMID:16199547|PMID:22522446|PMID:25059916|PMID:25741868|PMID:25790160|PMID:28492532|PMID:30371979|PMID:32528525|PMID:32802955
1306566	Dst	dystonin	gene	DOID:0070151	hereditary sensory and autonomic neuropathy type 6		ISS	RGD:1315255	D	RGD:13592920	20230718	MouseDO		OMIM:614653	
1306566	Dst	dystonin	gene	DOID:10485	esophageal atresia		ISO	RGD:1605439	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
1306566	Dst	dystonin	gene	DOID:11830	myopia		ISO	RGD:1605439	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1306566	Dst	dystonin	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1605439	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
1306566	Dst	dystonin	gene	DOID:2377	multiple sclerosis		ISO	RGD:1605439	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Multiple sclerosis	PMID:25741868|PMID:25790160|PMID:28492532
1306566	Dst	dystonin	gene	DOID:480	movement disease		ISO	RGD:1605439	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1306566	Dst	dystonin	gene	DOID:630	genetic disease		ISO	RGD:1605439	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:17849487|PMID:22522446|PMID:23056405|PMID:25059916|PMID:25741868|PMID:25790160|PMID:27698030|PMID:28492532|PMID:30371979|PMID:30949922|PMID:32802955|PMID:7670468|PMID:9536098
1306566	Dst	dystonin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306566	Dst	dystonin	gene	DOID:9001248	Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency		ISO	RGD:1605439	D	RGD:7240710	20140911	OMIM			
1306566	Dst	dystonin	gene	DOID:9001248	Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency		ISO	RGD:1605439	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DST-related condition | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2	PMID:16199547|PMID:17576681|PMID:22113475|PMID:22522446|PMID:25059916|PMID:25741868|PMID:25790160|PMID:28492532|PMID:28558912|PMID:28767192|PMID:30371979|PMID:32528525|PMID:33471381|PMID:9536098
1306566	Dst	dystonin	gene	DOID:9006519	Generalized Epidermolysis Bullosa Simplex 1D		ISO	RGD:1605439	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1306566	Dst	dystonin	gene	DOID:9008023	Memory Disorders		ISO	RGD:1605439	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1306566	Dst	dystonin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306567	Trmt5	tRNA methyltransferase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306567	Trmt5	tRNA methyltransferase 5	gene	DOID:0111490	combined oxidative phosphorylation deficiency 26		ISO	RGD:1315256	D	RGD:7240710	20170301	OMIM			
1306567	Trmt5	tRNA methyltransferase 5	gene	DOID:0111490	combined oxidative phosphorylation deficiency 26		ISO	RGD:1315256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: TRMT5-related condition	PMID:25741868|PMID:26189817|PMID:28492532|PMID:29021354|PMID:31038196|PMID:35342985
1306567	Trmt5	tRNA methyltransferase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306567	Trmt5	tRNA methyltransferase 5	gene	DOID:1115	sarcoma		ISO	RGD:1315256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306567	Trmt5	tRNA methyltransferase 5	gene	DOID:1324	lung cancer		ISO	RGD:1315256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306567	Trmt5	tRNA methyltransferase 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306567	Trmt5	tRNA methyltransferase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1315256	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306567	Trmt5	tRNA methyltransferase 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306567	Trmt5	tRNA methyltransferase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306567	Trmt5	tRNA methyltransferase 5	gene	DOID:630	genetic disease		ISO	RGD:1315256	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306567	Trmt5	tRNA methyltransferase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306568	Cpped1	calcineurin-like phosphoesterase domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306568	Cpped1	calcineurin-like phosphoesterase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1602325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306568	Cpped1	calcineurin-like phosphoesterase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1602325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306568	Cpped1	calcineurin-like phosphoesterase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1602325	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306568	Cpped1	calcineurin-like phosphoesterase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306568	Cpped1	calcineurin-like phosphoesterase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306568	Cpped1	calcineurin-like phosphoesterase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306569	Mtmr1	myotubularin related protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306569	Mtmr1	myotubularin related protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306569	Mtmr1	myotubularin related protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306569	Mtmr1	myotubularin related protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306569	Mtmr1	myotubularin related protein 1	gene	DOID:1909	melanoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306569	Mtmr1	myotubularin related protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306569	Mtmr1	myotubularin related protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306569	Mtmr1	myotubularin related protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315259	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306569	Mtmr1	myotubularin related protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306569	Mtmr1	myotubularin related protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306569	Mtmr1	myotubularin related protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306569	Mtmr1	myotubularin related protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306570	Kpna6	karyopherin subunit alpha 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306570	Kpna6	karyopherin subunit alpha 6	gene	DOID:10534	stomach cancer		ISO	RGD:1315261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306570	Kpna6	karyopherin subunit alpha 6	gene	DOID:1324	lung cancer		ISO	RGD:1315261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306570	Kpna6	karyopherin subunit alpha 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1315261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306570	Kpna6	karyopherin subunit alpha 6	gene	DOID:3275	thymoma		ISO	RGD:1315261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306570	Kpna6	karyopherin subunit alpha 6	gene	DOID:4362	cervical cancer		ISO	RGD:1315261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306570	Kpna6	karyopherin subunit alpha 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1315261	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306570	Kpna6	karyopherin subunit alpha 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306570	Kpna6	karyopherin subunit alpha 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306570	Kpna6	karyopherin subunit alpha 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306571	Arsg	arylsulfatase G	gene	DOID:0050439	Usher syndrome		ISO	RGD:1602225	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Usher syndrome	
1306571	Arsg	arylsulfatase G	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1602225	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1306571	Arsg	arylsulfatase G	gene	DOID:12798	mucopolysaccharidosis		ISS	RGD:1331908	D	RGD:13592920	20180518	MouseDO		OMIM:252700	
1306571	Arsg	arylsulfatase G	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:12390961	D	RGD:9068941	20260709	OMIA		Lysosomal storage disease, ARSG related	PMID:12951908|PMID:15058771|PMID:15365721|PMID:16916197|PMID:20429032|PMID:20679209|PMID:22689975|PMID:23338040|PMID:24069350|PMID:25135642|PMID:25452429|PMID:27778018|PMID:28860089|PMID:32219101|PMID:37290756|PMID:37341581|PMID:38003185|PMID:41295716|PMID:42402371
1306571	Arsg	arylsulfatase G	gene	DOID:1909	melanoma		ISO	RGD:1602225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306571	Arsg	arylsulfatase G	gene	DOID:4362	cervical cancer		ISO	RGD:1602225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306571	Arsg	arylsulfatase G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306571	Arsg	arylsulfatase G	gene	DOID:8501	fundus dystrophy		ISO	RGD:1602225	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1306571	Arsg	arylsulfatase G	gene	DOID:9005209	Usher Syndrome Type 4		ISO	RGD:1602225	D	RGD:7240710	20190315	OMIM			
1306571	Arsg	arylsulfatase G	gene	DOID:9005209	Usher Syndrome Type 4		ISO	RGD:1602225	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IV | ClinVar Annotator: match by term: Usher syndrome, type 4	PMID:25741868|PMID:28492532|PMID:32455177|PMID:33300174|PMID:34223797|PMID:35226187
1306571	Arsg	arylsulfatase G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306571	Arsg	arylsulfatase G	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1306571	Arsg	arylsulfatase G	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:1909	melanoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1315264	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306572	Anapc4	anaphase promoting complex subunit 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306573	Exosc2	exosome component 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1315266	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1306573	Exosc2	exosome component 2	gene	DOID:0081175	short stature, hearing loss, retinitis pigmentosa, and distinctive facies		ISO	RGD:1315266	D	RGD:7240710	20190315	OMIM			
1306573	Exosc2	exosome component 2	gene	DOID:0081175	short stature, hearing loss, retinitis pigmentosa, and distinctive facies		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EXOSC2-related condition | ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	PMID:14647208|PMID:15060126|PMID:24447024|PMID:25741868|PMID:26843489|PMID:28492532|PMID:31628467|PMID:34162742
1306573	Exosc2	exosome component 2	gene	DOID:1324	lung cancer		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1306573	Exosc2	exosome component 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306573	Exosc2	exosome component 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306573	Exosc2	exosome component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306573	Exosc2	exosome component 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306573	Exosc2	exosome component 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1315266	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1306573	Exosc2	exosome component 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1315266	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1306573	Exosc2	exosome component 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306574	Rfx1	regulatory factor X1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306574	Rfx1	regulatory factor X1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306574	Rfx1	regulatory factor X1	gene	DOID:1115	sarcoma		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306574	Rfx1	regulatory factor X1	gene	DOID:1324	lung cancer		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306574	Rfx1	regulatory factor X1	gene	DOID:1909	melanoma		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306574	Rfx1	regulatory factor X1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306574	Rfx1	regulatory factor X1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306574	Rfx1	regulatory factor X1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306574	Rfx1	regulatory factor X1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:0060058	lymphoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:0111180	French Canadian Leigh disease		ISO	RGD:1315270	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12529507
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:0111180	French Canadian Leigh disease		ISO	RGD:1315270	D	RGD:7240710	20130221	OMIM			
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:0111180	French Canadian Leigh disease		ISO	RGD:1315270	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: French-Canadian type Leigh syndrome | ClinVar Annotator: match by term: LRPPRC-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian	PMID:12529507|PMID:15139850|PMID:16199547|PMID:17050673|PMID:18414213|PMID:20200222|PMID:21266382|PMID:22494076|PMID:25214534|PMID:25741868|PMID:26510951|PMID:26510952|PMID:26741492|PMID:28492532|PMID:29152527|PMID:31308188|PMID:35242578
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868|PMID:28492532
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:10534	stomach cancer		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:1059	intellectual disability		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:10907	microcephaly		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:1115	sarcoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:11830	myopia		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:12849	autistic disorder		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:1324	lung cancer		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:1596	depressive disorder		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:1826	epilepsy		ISO	RGD:1315270	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:28492532
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:1826	epilepsy		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:1909	melanoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:2030	anxiety disorder		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:2394	ovarian cancer		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:3275	thymoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:3652	Leigh disease		ISO	RGD:1315270	D	RGD:1600674|PMID:17050673	20070322	RGD		Leigh syndrome French Canadian variant	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:3652	Leigh disease		ISO	RGD:1315270	D	RGD:1600676|PMID:12529507	20070322	RGD			
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:3652	Leigh disease		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868|PMID:32972427
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1315270	D	RGD:1600676|PMID:12529507	20070322	RGD			
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:4362	cervical cancer		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:4667	kyphosis		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868|PMID:28492532
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1315270	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:5723	optic atrophy		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:6039	uveal melanoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:31589614
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:630	genetic disease		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654|PMID:9536098
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:9004507	Hirsutism		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28492532
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:9005616	Micrognathism		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:9008023	Memory Disorders		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306575	Lrpprc	leucine-rich pentatricopeptide repeat containing	gene	DOID:9834	hyperopia		ISO	RGD:1315270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1306576	Rpp25l	ribonuclease P/MRP subunit p25 like	gene	DOID:2394	ovarian cancer		ISO	RGD:1315272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306577	Faf2	Fas associated factor family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306577	Faf2	Fas associated factor family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306577	Faf2	Fas associated factor family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306577	Faf2	Fas associated factor family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1604379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306577	Faf2	Fas associated factor family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1604379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306577	Faf2	Fas associated factor family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306577	Faf2	Fas associated factor family member 2	gene	DOID:3275	thymoma		ISO	RGD:1604379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306577	Faf2	Fas associated factor family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306577	Faf2	Fas associated factor family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604379	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306577	Faf2	Fas associated factor family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306577	Faf2	Fas associated factor family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306577	Faf2	Fas associated factor family member 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1604379	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
1306577	Faf2	Fas associated factor family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306577	Faf2	Fas associated factor family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:0070697	neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter		ISO	RGD:1315275	D	RGD:7240710	20260506	OMIM			
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:0070697	neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter		ISO	RGD:1315275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, THIN CORPUS CALLOSUM, AND DECREASED BRAIN WHITE MATTER	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:10283	prostate cancer		ISO	RGD:1315275	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:10283	prostate cancer		ISO	RGD:1315275	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1315275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:1324	lung cancer		ISO	RGD:1315275	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:1909	melanoma		ISO	RGD:1315275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315275	D	RGD:8554872	20170711	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306578	Rps6kc1	ribosomal protein S6 kinase C1	gene	DOID:9256	colorectal cancer		ISO	RGD:1315275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306580	Clic2	CLIC family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306580	Clic2	CLIC family member 2	gene	DOID:0060828	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome		ISO	RGD:1315278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic 32 | ClinVar Annotator: match by term: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	PMID:25741868
1306580	Clic2	CLIC family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306580	Clic2	CLIC family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306580	Clic2	CLIC family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1315278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306580	Clic2	CLIC family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1315278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306580	Clic2	CLIC family member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315278	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306580	Clic2	CLIC family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306581	Comtd1	catechol-O-methyltransferase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306581	Comtd1	catechol-O-methyltransferase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306581	Comtd1	catechol-O-methyltransferase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1315279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306581	Comtd1	catechol-O-methyltransferase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306581	Comtd1	catechol-O-methyltransferase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306581	Comtd1	catechol-O-methyltransferase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306582	Ntmt1	N-terminal Xaa-Pro-Lys N-methyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306582	Ntmt1	N-terminal Xaa-Pro-Lys N-methyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306582	Ntmt1	N-terminal Xaa-Pro-Lys N-methyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306582	Ntmt1	N-terminal Xaa-Pro-Lys N-methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306582	Ntmt1	N-terminal Xaa-Pro-Lys N-methyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306582	Ntmt1	N-terminal Xaa-Pro-Lys N-methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306583	Trappc13	trafficking protein particle complex subunit 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306583	Trappc13	trafficking protein particle complex subunit 13	gene	DOID:10534	stomach cancer		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306583	Trappc13	trafficking protein particle complex subunit 13	gene	DOID:1909	melanoma		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306583	Trappc13	trafficking protein particle complex subunit 13	gene	DOID:3275	thymoma		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306583	Trappc13	trafficking protein particle complex subunit 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306583	Trappc13	trafficking protein particle complex subunit 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306583	Trappc13	trafficking protein particle complex subunit 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306583	Trappc13	trafficking protein particle complex subunit 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306583	Trappc13	trafficking protein particle complex subunit 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306583	Trappc13	trafficking protein particle complex subunit 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306585	Lrrc8c	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:1115	sarcoma		ISO	RGD:1604274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306585	Lrrc8c	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:2377	multiple sclerosis		ISO	RGD:1604274	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
1306585	Lrrc8c	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306585	Lrrc8c	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:9009275	TIMES Syndrome		ISO	RGD:1604274	D	RGD:7240710	20250108	OMIM			
1306585	Lrrc8c	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:9009275	TIMES Syndrome		ISO	RGD:1604274	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TIMES SYNDROME	
1306586	Slc9d1	solute carrier family 9 member D1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306586	Slc9d1	solute carrier family 9 member D1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306586	Slc9d1	solute carrier family 9 member D1	gene	DOID:1115	sarcoma		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306586	Slc9d1	solute carrier family 9 member D1	gene	DOID:1909	melanoma		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306586	Slc9d1	solute carrier family 9 member D1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306586	Slc9d1	solute carrier family 9 member D1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1315285	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1306586	Slc9d1	solute carrier family 9 member D1	gene	DOID:4362	cervical cancer		ISO	RGD:1315285	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306586	Slc9d1	solute carrier family 9 member D1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306586	Slc9d1	solute carrier family 9 member D1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306586	Slc9d1	solute carrier family 9 member D1	gene	DOID:6039	uveal melanoma		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306586	Slc9d1	solute carrier family 9 member D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306586	Slc9d1	solute carrier family 9 member D1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306586	Slc9d1	solute carrier family 9 member D1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306588	Tbc1d22a	TBC1 domain family, member 22a	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306588	Tbc1d22a	TBC1 domain family, member 22a	gene	DOID:10534	stomach cancer		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306588	Tbc1d22a	TBC1 domain family, member 22a	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306588	Tbc1d22a	TBC1 domain family, member 22a	gene	DOID:1909	melanoma		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306588	Tbc1d22a	TBC1 domain family, member 22a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306588	Tbc1d22a	TBC1 domain family, member 22a	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306588	Tbc1d22a	TBC1 domain family, member 22a	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306588	Tbc1d22a	TBC1 domain family, member 22a	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306588	Tbc1d22a	TBC1 domain family, member 22a	gene	DOID:9256	colorectal cancer		ISO	RGD:1602007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306589	Gca	grancalcin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306589	Gca	grancalcin	gene	DOID:0060058	lymphoma		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306589	Gca	grancalcin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306589	Gca	grancalcin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306589	Gca	grancalcin	gene	DOID:4362	cervical cancer		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306589	Gca	grancalcin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306589	Gca	grancalcin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306589	Gca	grancalcin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306589	Gca	grancalcin	gene	DOID:9256	colorectal cancer		ISO	RGD:1315291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306590	Agfg2	ArfGAP with FG repeats 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306590	Agfg2	ArfGAP with FG repeats 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306590	Agfg2	ArfGAP with FG repeats 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306590	Agfg2	ArfGAP with FG repeats 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306590	Agfg2	ArfGAP with FG repeats 2	gene	DOID:1324	lung cancer		ISO	RGD:1315293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306590	Agfg2	ArfGAP with FG repeats 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306590	Agfg2	ArfGAP with FG repeats 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306590	Agfg2	ArfGAP with FG repeats 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:1059	intellectual disability		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:40885185
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:10907	microcephaly		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:40885185
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:12849	autistic disorder		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:40885185
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:1909	melanoma		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:3275	thymoma		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:4362	cervical cancer		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:440	neuromuscular disease		ISO	RGD:1315295	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315295	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:40885185
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:9007661	Dwarfism		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:40885185
1306591	Tmem184b	transmembrane protein 184B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306592	Egflam	EGF-like, fibronectin type III and laminin G domains	gene	DOID:1324	lung cancer		ISO	RGD:1602070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306592	Egflam	EGF-like, fibronectin type III and laminin G domains	gene	DOID:1909	melanoma		ISO	RGD:1602070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306592	Egflam	EGF-like, fibronectin type III and laminin G domains	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306592	Egflam	EGF-like, fibronectin type III and laminin G domains	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306592	Egflam	EGF-like, fibronectin type III and laminin G domains	gene	DOID:4362	cervical cancer		ISO	RGD:1602070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306592	Egflam	EGF-like, fibronectin type III and laminin G domains	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306592	Egflam	EGF-like, fibronectin type III and laminin G domains	gene	DOID:5041	esophageal cancer		ISO	RGD:1602070	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306592	Egflam	EGF-like, fibronectin type III and laminin G domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306592	Egflam	EGF-like, fibronectin type III and laminin G domains	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306592	Egflam	EGF-like, fibronectin type III and laminin G domains	gene	DOID:9002189	High Myopia		ISO	RGD:1602070	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1306592	Egflam	EGF-like, fibronectin type III and laminin G domains	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306592	Egflam	EGF-like, fibronectin type III and laminin G domains	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306592	Egflam	EGF-like, fibronectin type III and laminin G domains	gene	DOID:9256	colorectal cancer		ISO	RGD:1602070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306593	Zdhhc12	zDHHC palmitoyltransferase 12	gene	DOID:10534	stomach cancer		ISO	RGD:1315298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306593	Zdhhc12	zDHHC palmitoyltransferase 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306593	Zdhhc12	zDHHC palmitoyltransferase 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306593	Zdhhc12	zDHHC palmitoyltransferase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306593	Zdhhc12	zDHHC palmitoyltransferase 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306595	Tefm	transcription elongation factor, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306595	Tefm	transcription elongation factor, mitochondrial	gene	DOID:3275	thymoma		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306595	Tefm	transcription elongation factor, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306595	Tefm	transcription elongation factor, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306595	Tefm	transcription elongation factor, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306595	Tefm	transcription elongation factor, mitochondrial	gene	DOID:9001543	Combined Oxidative Phosphorylation Deficiency 58		ISO	RGD:1605945	D	RGD:7240710	20230802	OMIM			
1306595	Tefm	transcription elongation factor, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306596	Oscp1	organic solute carrier partner 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306596	Oscp1	organic solute carrier partner 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306596	Oscp1	organic solute carrier partner 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1606165	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1306596	Oscp1	organic solute carrier partner 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306596	Oscp1	organic solute carrier partner 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306596	Oscp1	organic solute carrier partner 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306596	Oscp1	organic solute carrier partner 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306596	Oscp1	organic solute carrier partner 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606165	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306597	Cyc1	cytochrome c-1	gene	DOID:0060249	scoliosis		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1315303	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1306597	Cyc1	cytochrome c-1	gene	DOID:0080115	mitochondrial complex III deficiency nuclear type 6		ISO	RGD:1315303	D	RGD:7240710	20140911	OMIM			
1306597	Cyc1	cytochrome c-1	gene	DOID:0080115	mitochondrial complex III deficiency nuclear type 6		ISO	RGD:1315303	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYC1-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 6	PMID:25741868|PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:1324	lung cancer		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:1596	depressive disorder		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:2030	anxiety disorder		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:423	myopathy		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306597	Cyc1	cytochrome c-1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306597	Cyc1	cytochrome c-1	gene	DOID:9000053	Headache		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:9000495	Tremor		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:9000641	Pain		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:9001733	Tinnitus		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:9006617	Fatigue		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exercise intolerance	PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:28492532
1306597	Cyc1	cytochrome c-1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306599	Urm1	ubiquitin related modifier 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306599	Urm1	ubiquitin related modifier 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306599	Urm1	ubiquitin related modifier 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306599	Urm1	ubiquitin related modifier 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315307	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306599	Urm1	ubiquitin related modifier 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306599	Urm1	ubiquitin related modifier 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315307	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306599	Urm1	ubiquitin related modifier 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1315307	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306599	Urm1	ubiquitin related modifier 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1306601	Duoxa1	dual oxidase maturation factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306601	Duoxa1	dual oxidase maturation factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306601	Duoxa1	dual oxidase maturation factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306601	Duoxa1	dual oxidase maturation factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306602	Srms	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	gene	DOID:10534	stomach cancer		ISO	RGD:1315310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306602	Srms	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	gene	DOID:1324	lung cancer		ISO	RGD:1315310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306602	Srms	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1315310	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
1306602	Srms	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315310	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306602	Srms	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1315310	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1306602	Srms	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306602	Srms	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	gene	DOID:9256	colorectal cancer		ISO	RGD:1315310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306603	Cdhr4	cadherin-related family member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1605792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306603	Cdhr4	cadherin-related family member 4	gene	DOID:3275	thymoma		ISO	RGD:1605792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306603	Cdhr4	cadherin-related family member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306603	Cdhr4	cadherin-related family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306603	Cdhr4	cadherin-related family member 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306605	Cyp46a1	cytochrome P450, family 46, subfamily a, polypeptide 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306605	Cyp46a1	cytochrome P450, family 46, subfamily a, polypeptide 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1315314	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19286353
1306605	Cyp46a1	cytochrome P450, family 46, subfamily a, polypeptide 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1315314	D	RGD:1358575|PMID:12232784	19990101	RGD			
1306605	Cyp46a1	cytochrome P450, family 46, subfamily a, polypeptide 1	gene	DOID:1324	lung cancer		ISO	RGD:1315314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306605	Cyp46a1	cytochrome P450, family 46, subfamily a, polypeptide 1	gene	DOID:1574	alcohol use disorder		IEP		D	RGD:616363157|PMID:30618609	20250616	RGD		mRNA:decreased expression:prefrontal cortex, mesencephalon (rat)	
1306605	Cyp46a1	cytochrome P450, family 46, subfamily a, polypeptide 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1315314	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Susceptibility to chronic obstructive pulmonary disease	
1306605	Cyp46a1	cytochrome P450, family 46, subfamily a, polypeptide 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:0080234	Clark-Baraitser syndrome		ISO	RGD:1315318	D	RGD:7240710	20190315	OMIM			
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:0080234	Clark-Baraitser syndrome		ISO	RGD:1315318	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CLARK-BARAITSER SYNDROME | ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 49 | ClinVar Annotator: match by term: TRIP12-related condition	PMID:25741868|PMID:27848077|PMID:28251352|PMID:28492532|PMID:29758562|PMID:36918699
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:10283	prostate cancer		ISO	RGD:1315318	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:10283	prostate cancer		ISO	RGD:1315318	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:10534	stomach cancer		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:1059	intellectual disability		ISO	RGD:1315318	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:36747006
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:11044	gastroschisis		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroschisis	PMID:25741868
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:1115	sarcoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:11193	syndactyly		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:11714	gestational diabetes		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:12698	gynecomastia		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gynecomastia	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:12849	autistic disorder		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:1324	lung cancer		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:1909	melanoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:3275	thymoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:4362	cervical cancer		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1315318	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:630	genetic disease		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9001581	Constipation		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9002189	High Myopia		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe Myopia	PMID:20676075
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9003816	Macrocephaly		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315318	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315318	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:27848077|PMID:28251352
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Speech delay	PMID:25741868
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9008582	Developmental Disease		ISO	RGD:1315318	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306607	Trip12	thyroid hormone receptor interactor 12	gene	DOID:9970	obesity		ISO	RGD:1315318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1306608	Mtmr7	myotubularin related protein 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306608	Mtmr7	myotubularin related protein 7	gene	DOID:4362	cervical cancer		ISO	RGD:1315320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306608	Mtmr7	myotubularin related protein 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306608	Mtmr7	myotubularin related protein 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315320	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306610	Otog	otogelin	gene	DOID:0050486	exanthem		ISO	RGD:1315323	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:23122587|PMID:25741868|PMID:28492532
1306610	Otog	otogelin	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1315323	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness	
1306610	Otog	otogelin	gene	DOID:0050737	autosomal recessive disease		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive disease	PMID:25741868|PMID:28492532
1306610	Otog	otogelin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306610	Otog	otogelin	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1315323	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
1306610	Otog	otogelin	gene	DOID:0110474	autosomal recessive nonsyndromic deafness 18B		ISO	RGD:1315323	D	RGD:7240710	20140911	OMIM			
1306610	Otog	otogelin	gene	DOID:0110474	autosomal recessive nonsyndromic deafness 18B		ISO	RGD:1315323	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18B | ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition | ClinVar Annotator: match by term: autosomal recessive deafness 18B	PMID:10655058|PMID:16199547|PMID:17576681|PMID:23122587|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28050010|PMID:28492532|PMID:29196752|PMID:31152317|PMID:31645975|PMID:31827275|PMID:38519595|PMID:9536098
1306610	Otog	otogelin	gene	DOID:0110474	autosomal recessive nonsyndromic deafness 18B		ISS	RGD:1315324	D	RGD:13592920	20230718	MouseDO		OMIM:614945	
1306610	Otog	otogelin	gene	DOID:0110498	autosomal recessive nonsyndromic deafness 4		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enlarged vestibular aqueduct syndrome	PMID:25741868|PMID:28492532
1306610	Otog	otogelin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315323	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:24033266|PMID:25741868
1306610	Otog	otogelin	gene	DOID:1059	intellectual disability		ISO	RGD:1315323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799|PMID:33105617|PMID:34515852|PMID:35682719
1306610	Otog	otogelin	gene	DOID:10754	otitis media		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
1306610	Otog	otogelin	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
1306610	Otog	otogelin	gene	DOID:1324	lung cancer		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1306610	Otog	otogelin	gene	DOID:1826	epilepsy		ISO	RGD:1315323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799|PMID:33105617|PMID:34515852|PMID:35682719
1306610	Otog	otogelin	gene	DOID:2975	cystic kidney disease		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868
1306610	Otog	otogelin	gene	DOID:4362	cervical cancer		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306610	Otog	otogelin	gene	DOID:543	dystonia		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1306610	Otog	otogelin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306610	Otog	otogelin	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia	PMID:24033266|PMID:28492532
1306610	Otog	otogelin	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868
1306610	Otog	otogelin	gene	DOID:9001733	Tinnitus		ISO	RGD:1315323	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28945198
1306610	Otog	otogelin	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
1306610	Otog	otogelin	gene	DOID:9002554	Tachycardia		ISO	RGD:1315323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799|PMID:33105617|PMID:34515852|PMID:35682719
1306610	Otog	otogelin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799|PMID:30303587|PMID:30311386|PMID:32048449
1306610	Otog	otogelin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799|PMID:30311386|PMID:32048449|PMID:33105617|PMID:34515852|PMID:35682719
1306610	Otog	otogelin	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1306610	Otog	otogelin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1306610	Otog	otogelin	gene	DOID:9006380	Bilateral Hearing Loss		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral hearing loss	PMID:24033266|PMID:25741868
1306610	Otog	otogelin	gene	DOID:9007736	Vertigo		ISO	RGD:1315323	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868
1306610	Otog	otogelin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799|PMID:33105617|PMID:34515852|PMID:35682719
1306610	Otog	otogelin	gene	DOID:9008681	Deafness		ISO	RGD:1315323	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	
1306610	Otog	otogelin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306612	Ca12	carbonic anhydrase 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306612	Ca12	carbonic anhydrase 12	gene	DOID:0050861	colorectal adenocarcinoma	severity	ISO	RGD:1315327	D	RGD:155226866|PMID:10666387	20220916	RGD			
1306612	Ca12	carbonic anhydrase 12	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1315327	D	RGD:9068941	20220916	RGD			PMID:22172588|REF_RGD_ID:153352330
1306612	Ca12	carbonic anhydrase 12	gene	DOID:0080199	colorectal carcinoma	disease_progression	ISO	RGD:1315327	D	RGD:155226860|PMID:27688658	20220916	RGD			
1306612	Ca12	carbonic anhydrase 12	gene	DOID:0111371	isolated hyperchlorhidrosis		ISO	RGD:1315327	D	RGD:7240710	20130221	OMIM			
1306612	Ca12	carbonic anhydrase 12	gene	DOID:0111371	isolated hyperchlorhidrosis		ISO	RGD:1315327	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CA12-related condition | ClinVar Annotator: match by term: HYPERCHLORHIDROSIS, ISOLATED | ClinVar Annotator: match by term: Isolated hyperchlorhidrosis	PMID:25741868|PMID:26911677
1306612	Ca12	carbonic anhydrase 12	gene	DOID:1115	sarcoma		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306612	Ca12	carbonic anhydrase 12	gene	DOID:1324	lung cancer		ISO	RGD:1315327	D	RGD:155226862|PMID:22439015	20220916	RGD		protein:increased expression:serum;	
1306612	Ca12	carbonic anhydrase 12	gene	DOID:1909	melanoma		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:26911677
1306612	Ca12	carbonic anhydrase 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26911677
1306612	Ca12	carbonic anhydrase 12	gene	DOID:234	colon adenocarcinoma	disease_progression	ISO	RGD:1315327	D	RGD:153352327|PMID:35847888	20220915	RGD			
1306612	Ca12	carbonic anhydrase 12	gene	DOID:3275	thymoma		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306612	Ca12	carbonic anhydrase 12	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1315327	D	RGD:155226859|PMID:26316888	20220916	RGD			
1306612	Ca12	carbonic anhydrase 12	gene	DOID:3883	Lynch syndrome		ISO	RGD:1315327	D	RGD:155226867|PMID:17855694	20220916	RGD		protein:decreased expression:colorectum	
1306612	Ca12	carbonic anhydrase 12	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1315327	D	RGD:155226863|PMID:23910904	20220916	RGD			
1306612	Ca12	carbonic anhydrase 12	gene	DOID:5015	fibrolamellar carcinoma		ISO	RGD:1315327	D	RGD:153352326|PMID:28304380	20220915	RGD		mRNA:increased expression:liver	
1306612	Ca12	carbonic anhydrase 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306612	Ca12	carbonic anhydrase 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306612	Ca12	carbonic anhydrase 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315327	D	RGD:155226869|PMID:29900055	20220916	RGD		mRNA:altered expression:liver	
1306612	Ca12	carbonic anhydrase 12	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1315328	D	RGD:153352325|PMID:35362480	20220915	RGD			
1306612	Ca12	carbonic anhydrase 12	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1315327	D	RGD:153352325|PMID:35362480	20220915	RGD			
1306612	Ca12	carbonic anhydrase 12	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1315327	D	RGD:153352328|PMID:31934040	20220915	RGD			
1306612	Ca12	carbonic anhydrase 12	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1315327	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
1306612	Ca12	carbonic anhydrase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306612	Ca12	carbonic anhydrase 12	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1315327	D	RGD:153352324|PMID:15849821	20220915	RGD		protein:decreased expression:colorectal mucosa	
1306612	Ca12	carbonic anhydrase 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306612	Ca12	carbonic anhydrase 12	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:1315327	D	RGD:155226861|PMID:29786141	20220916	RGD		associated with breast cancer;	
1306613	Yae1	YAE1 maturation factor of ABCE1	gene	DOID:1324	lung cancer		ISO	RGD:1315329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306613	Yae1	YAE1 maturation factor of ABCE1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306613	Yae1	YAE1 maturation factor of ABCE1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306613	Yae1	YAE1 maturation factor of ABCE1	gene	DOID:6039	uveal melanoma		ISO	RGD:1315329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306613	Yae1	YAE1 maturation factor of ABCE1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306613	Yae1	YAE1 maturation factor of ABCE1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306613	Yae1	YAE1 maturation factor of ABCE1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306614	Ubfd1	ubiquitin family domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606788	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306614	Ubfd1	ubiquitin family domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306614	Ubfd1	ubiquitin family domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306614	Ubfd1	ubiquitin family domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306614	Ubfd1	ubiquitin family domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306614	Ubfd1	ubiquitin family domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306614	Ubfd1	ubiquitin family domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306614	Ubfd1	ubiquitin family domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:1115	sarcoma		ISO	RGD:1315332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:13580	cholestasis		ISO	RGD:1315332	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cholestasis | ClinVar Annotator: match by term: cholestasis	PMID:25741868|PMID:28492532|PMID:32124521|PMID:32759993
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:1909	melanoma		ISO	RGD:1315332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1315332	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868|PMID:28492532
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:630	genetic disease		ISO	RGD:1315332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:9002460	Progressive Familial Intrahepatic Cholestasis 7		ISO	RGD:1315332	D	RGD:7240710	20211222	OMIM			
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:9002460	Progressive Familial Intrahepatic Cholestasis 7		ISO	RGD:1315332	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS | ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | ClinVar Annotator: match by term: USP53-related condition	PMID:25741868|PMID:28492532|PMID:32124521|PMID:32759993|PMID:33661244
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:9004898	Jaundice		ISO	RGD:1315332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868|PMID:28492532|PMID:32124521|PMID:32759993
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1315332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:28492532|PMID:32124521|PMID:32759993
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306615	Usp53	ubiquitin specific peptidase 53	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:0080255	Meier-Gorlin syndrome 8		ISO	RGD:1315334	D	RGD:7240710	20190315	OMIM			
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:0080255	Meier-Gorlin syndrome 8		ISO	RGD:1315334	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: MCM5-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 8	PMID:25741868|PMID:28198391|PMID:28492532
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:10534	stomach cancer		ISO	RGD:1315334	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:1115	sarcoma		ISO	RGD:1315334	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:1324	lung cancer		ISO	RGD:1315334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:1574	alcohol use disorder		IEP		D	RGD:10045658|PMID:23095216	20150615	RGD			
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:1909	melanoma		ISO	RGD:1315334	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1315334	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1315334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306616	Mcm5	minichromosome maintenance complex component 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315334	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306618	Prnd	prion like protein doppel	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315338	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306618	Prnd	prion like protein doppel	gene	DOID:3275	thymoma		ISO	RGD:1315338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306618	Prnd	prion like protein doppel	gene	DOID:4362	cervical cancer		ISO	RGD:1315338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306618	Prnd	prion like protein doppel	gene	DOID:5041	esophageal cancer		ISO	RGD:1315338	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306618	Prnd	prion like protein doppel	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306618	Prnd	prion like protein doppel	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306619	Cbx5	chromobox 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306619	Cbx5	chromobox 5	gene	DOID:10283	prostate cancer		ISO	RGD:1315340	D	RGD:9586744|PMID:18436254	20141006	RGD		protein:increased expression:prostate:	
1306619	Cbx5	chromobox 5	gene	DOID:1324	lung cancer		ISO	RGD:1315340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1306619	Cbx5	chromobox 5	gene	DOID:1909	melanoma		ISO	RGD:1315340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306619	Cbx5	chromobox 5	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1315340	D	RGD:9586743|PMID:22900142	20141006	RGD		mRNA,protein:increased expression:lung:	
1306619	Cbx5	chromobox 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306619	Cbx5	chromobox 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306619	Cbx5	chromobox 5	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1315340	D	RGD:9586743|PMID:22900142	20141006	RGD		associated with Lung Neoplasms;	
1306619	Cbx5	chromobox 5	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1315340	D	RGD:9586743|PMID:22900142	20141006	RGD			
1306619	Cbx5	chromobox 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306619	Cbx5	chromobox 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1315340	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
1306619	Cbx5	chromobox 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315342	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:1612	breast cancer		ISO	RGD:1315342	D	RGD:7495808|PMID:24233520	20131213	RGD			
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:1612	breast cancer		ISO	RGD:1315342	D	RGD:7495809|PMID:12618338	20131213	RGD		protein:increased protein:mammary gland	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:219	colon cancer		ISO	RGD:1315342	D	RGD:7495808|PMID:24233520	20131213	RGD			
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:1315342	D	RGD:1641940|PMID:17406030	20070824	RGD		protein:increased expression, increased phosphorylation:brain	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1315342	D	RGD:1641940|PMID:17406030	20070824	RGD		protein:increased expression, increased phosphorylation:brain	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1315342	D	RGD:1302548|PMID:11593045	20150113	RGD			
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:4362	cervical cancer	treatment	ISO	RGD:1315342	D	RGD:7495806|PMID:20980434	20131213	RGD			
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1315342	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:5679	retinal disease	treatment	IDA		D	RGD:7495810|PMID:16805832	20131213	RGD			
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:9002211	Hyperalgesia	onset	ISO	RGD:1315343	D	RGD:7495807|PMID:19427893	20131213	RGD			
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315342	D	RGD:11554173	20201012	CTD		CTD Direct Evidence: marker/mechanism	PMID:32512071
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1315342	D	RGD:7495808|PMID:24233520	20131213	RGD			
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1315342	D	RGD:7495808|PMID:24233520	20131213	RGD			
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1315342	D	RGD:7495808|PMID:24233520	20131213	RGD			
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:7495813|PMID:11473637	20131213	RGD		mRNA:increased expression:kidney, glomerulus	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:9007102	Myocardial Ischemia		IDA		D	RGD:7243113|PMID:20550965	20131213	RGD			
1306620	Map2k3	mitogen activated protein kinase kinase 3	gene	DOID:916	liver benign neoplasm		ISO	RGD:1315342	D	RGD:7495808|PMID:24233520	20131213	RGD			
1306621	Zbtb2	zinc finger and BTB domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1315344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306621	Zbtb2	zinc finger and BTB domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315344	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306621	Zbtb2	zinc finger and BTB domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306622	Myrf	myelin regulatory factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306622	Myrf	myelin regulatory factor	gene	DOID:0080634	nanophthalmos		ISO	RGD:1315345	D	RGD:197810045|PMID:31048900	20230322	RGD		DNA:mutations:cds:	
1306622	Myrf	myelin regulatory factor	gene	DOID:10283	prostate cancer		ISO	RGD:1315345	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1306622	Myrf	myelin regulatory factor	gene	DOID:10283	prostate cancer		ISO	RGD:1315345	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1306622	Myrf	myelin regulatory factor	gene	DOID:1115	sarcoma		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306622	Myrf	myelin regulatory factor	gene	DOID:11162	respiratory failure		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	
1306622	Myrf	myelin regulatory factor	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:30985895|PMID:31266062|PMID:31633846
1306622	Myrf	myelin regulatory factor	gene	DOID:13620	patent foramen ovale		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	
1306622	Myrf	myelin regulatory factor	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1306622	Myrf	myelin regulatory factor	gene	DOID:1405	primary angle-closure glaucoma		ISO	RGD:1315345	D	RGD:199225554|PMID:36129575	20230322	RGD		DNA:mutations:multiple:	
1306622	Myrf	myelin regulatory factor	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1306622	Myrf	myelin regulatory factor	gene	DOID:1923	disorder of sexual development		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation	PMID:25741868|PMID:30985895|PMID:31266062|PMID:31633846
1306622	Myrf	myelin regulatory factor	gene	DOID:3326	purpura		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Petechiae	
1306622	Myrf	myelin regulatory factor	gene	DOID:3526	cerebral infarction		ISO	RGD:1315345	D	RGD:213230151|PMID:36193932	20230323	RGD		DNA:SNP:exon:rs174535(human)	
1306622	Myrf	myelin regulatory factor	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1315345	D	RGD:200226345|PMID:30532227	20230322	RGD		DNA:mutations:multiple:	
1306622	Myrf	myelin regulatory factor	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1315345	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868|PMID:30985895|PMID:31266062|PMID:31633846
1306622	Myrf	myelin regulatory factor	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome	
1306622	Myrf	myelin regulatory factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306622	Myrf	myelin regulatory factor	gene	DOID:4297	scimitar syndrome		ISO	RGD:1315345	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Scimitar syndrome	PMID:25741868
1306622	Myrf	myelin regulatory factor	gene	DOID:4362	cervical cancer		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306622	Myrf	myelin regulatory factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1306622	Myrf	myelin regulatory factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1315345	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306622	Myrf	myelin regulatory factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306622	Myrf	myelin regulatory factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306622	Myrf	myelin regulatory factor	gene	DOID:630	genetic disease		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1306622	Myrf	myelin regulatory factor	gene	DOID:8432	polycythemia		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycythemia	PMID:25741868
1306622	Myrf	myelin regulatory factor	gene	DOID:8466	retinal degeneration		ISO	RGD:1615698	D	RGD:197810045|PMID:31048900	20230322	RGD			
1306622	Myrf	myelin regulatory factor	gene	DOID:8488	polyhydramnios		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
1306622	Myrf	myelin regulatory factor	gene	DOID:9000039	Spinal Cord Injuries	ameliorates	IDA		D	RGD:213230157|PMID:27370227	20230323	RGD			
1306622	Myrf	myelin regulatory factor	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	
1306622	Myrf	myelin regulatory factor	gene	DOID:9000197	Edema		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	
1306622	Myrf	myelin regulatory factor	gene	DOID:9000486	Nanophthalmos 1		ISO	RGD:1315345	D	RGD:11554173	20250603	CTD		CTD Direct Evidence: marker/mechanism	
1306622	Myrf	myelin regulatory factor	gene	DOID:9000486	Nanophthalmos 1		ISO	RGD:1315345	D	RGD:7240710	20250507	OMIM			
1306622	Myrf	myelin regulatory factor	gene	DOID:9000486	Nanophthalmos 1		ISO	RGD:1315345	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NANOPHTHALMOS 1 | ClinVar Annotator: match by term: Nanophthalmos 1	
1306622	Myrf	myelin regulatory factor	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868
1306622	Myrf	myelin regulatory factor	gene	DOID:9003133	Hypertelorism		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1306622	Myrf	myelin regulatory factor	gene	DOID:9003497	Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization		ISO	RGD:1315345	D	RGD:7240710	20190417	OMIM			
1306622	Myrf	myelin regulatory factor	gene	DOID:9003497	Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization		ISO	RGD:1315345	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION | ClinVar Annotator: match by term: Encephalitis/encephalopathy, mild, with reversible myelin vacuolization	PMID:25741868
1306622	Myrf	myelin regulatory factor	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	
1306622	Myrf	myelin regulatory factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315345	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1306622	Myrf	myelin regulatory factor	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	
1306622	Myrf	myelin regulatory factor	gene	DOID:9006095	Ascites		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ascites	
1306622	Myrf	myelin regulatory factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306622	Myrf	myelin regulatory factor	gene	DOID:9007553	neurotoxicity	treatment	IEP		D	RGD:213230154|PMID:33166664	20230323	RGD			
1306622	Myrf	myelin regulatory factor	gene	DOID:9007788	Cardiac-Urogenital Syndrome		ISO	RGD:1315345	D	RGD:7240710	20190501	OMIM			
1306622	Myrf	myelin regulatory factor	gene	DOID:9007788	Cardiac-Urogenital Syndrome		ISO	RGD:1315345	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CARDIAC-UROGENITAL SYNDROME | ClinVar Annotator: match by term: Cardiac-urogenital syndrome | ClinVar Annotator: match by term: MYRF-related condition | ClinVar Annotator: match by term: cardiac-urogenital syndrome	PMID:25741868|PMID:28492532|PMID:29446546|PMID:30532227|PMID:30985895|PMID:31069960|PMID:31266062|PMID:31633846|PMID:33179293|PMID:34782754
1306622	Myrf	myelin regulatory factor	gene	DOID:9008091	Optic Nerve Injuries		IEP		D	RGD:213230153|PMID:29915135	20230323	RGD		mRNA:decreased expression: oligodendrocyte	
1306622	Myrf	myelin regulatory factor	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1315345	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:25741868
1306622	Myrf	myelin regulatory factor	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:25741868
1306622	Myrf	myelin regulatory factor	gene	DOID:9008582	Developmental Disease		ISO	RGD:1315345	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1306622	Myrf	myelin regulatory factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306622	Myrf	myelin regulatory factor	gene	DOID:9565	dextrocardia		ISO	RGD:1315345	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Dextrocardia	PMID:25741868|PMID:30532227
1306622	Myrf	myelin regulatory factor	gene	DOID:9834	hyperopia		ISO	RGD:1315345	D	RGD:199225554|PMID:36129575	20230322	RGD		DNA:mutations:multiple:	
1306622	Myrf	myelin regulatory factor	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1315345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315346	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:1115	sarcoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:1324	lung cancer		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:1909	melanoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315346	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306623	Carmil1	capping protein regulator and myosin 1 linker 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1315346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:0060320	inguinal hernia		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:28492532|PMID:29198722
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:0060342	acromelic frontonasal dysostosis		ISO	RGD:1352510	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:0060342	acromelic frontonasal dysostosis		ISO	RGD:1352510	D	RGD:7240710	20171011	OMIM			
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:0060342	acromelic frontonasal dysostosis		ISO	RGD:1352510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acromelic frontonasal dysostosis	PMID:25741868|PMID:28492532
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:0080833	laryngomalacia		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:28492532|PMID:29198722
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:1059	intellectual disability		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532|PMID:29198722
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:1115	sarcoma		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:12849	autistic disorder		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:2846	bruxism		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:25741868|PMID:28492532|PMID:29198722
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:3275	thymoma		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1352510	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:630	genetic disease		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29198722
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1352510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9000727	Syncope		ISO	RGD:1352510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:28492532
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:29198722
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9001733	Tinnitus		ISO	RGD:1352510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:1352510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology	PMID:25105228|PMID:25741868|PMID:26706854
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9003539	Hyperacusis		ISO	RGD:1352510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9003816	Macrocephaly		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352510	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9005077	Joint Instability		ISO	RGD:1352510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:28492532
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9007736	Vertigo		ISO	RGD:1352510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:29198722
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9009123	Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features		ISO	RGD:1352510	D	RGD:7240710	20190315	OMIM			
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9009123	Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features		ISO	RGD:1352510	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | ClinVar Annotator: match by term: ZSWIM6-related condition	PMID:16199547|PMID:25741868|PMID:28492532|PMID:29198722
1306624	Zswim6	zinc finger, SWIM-type containing 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306628	Lztfl1	leucine zipper transcription factor-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306628	Lztfl1	leucine zipper transcription factor-like 1	gene	DOID:0080600	COVID-19		ISO	RGD:1315352	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:32558485|PMID:32998156
1306628	Lztfl1	leucine zipper transcription factor-like 1	gene	DOID:0110139	Bardet-Biedl syndrome 17		ISO	RGD:1315352	D	RGD:7240710	20141126	OMIM			
1306628	Lztfl1	leucine zipper transcription factor-like 1	gene	DOID:0110139	Bardet-Biedl syndrome 17		ISO	RGD:1315352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 17 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 | ClinVar Annotator: match by term: LZTFL1-related condition	PMID:17576681|PMID:22510444|PMID:23692385|PMID:25741868|PMID:28492532|PMID:9536098
1306628	Lztfl1	leucine zipper transcription factor-like 1	gene	DOID:0110139	Bardet-Biedl syndrome 17		ISS	RGD:1315353	D	RGD:13592920	20230718	MouseDO		OMIM:615994	
1306628	Lztfl1	leucine zipper transcription factor-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306628	Lztfl1	leucine zipper transcription factor-like 1	gene	DOID:11162	respiratory failure		ISO	RGD:1315352	D	RGD:11554173	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:32558485
1306628	Lztfl1	leucine zipper transcription factor-like 1	gene	DOID:1909	melanoma		ISO	RGD:1315352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306628	Lztfl1	leucine zipper transcription factor-like 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1315352	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	
1306628	Lztfl1	leucine zipper transcription factor-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306628	Lztfl1	leucine zipper transcription factor-like 1	gene	DOID:630	genetic disease		ISO	RGD:1315352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306628	Lztfl1	leucine zipper transcription factor-like 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1315352	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1306628	Lztfl1	leucine zipper transcription factor-like 1	gene	DOID:9001827	Critical Illness		ISO	RGD:1315352	D	RGD:11554173	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:32558485|PMID:32998156
1306628	Lztfl1	leucine zipper transcription factor-like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353292	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9002189	High Myopia		ISO	RGD:1353292	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9003349	Rothmund-Thomson Syndrome Type 1		ISO	RGD:1353292	D	RGD:7240710	20191030	OMIM			
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9003349	Rothmund-Thomson Syndrome Type 1		ISO	RGD:1353292	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ROTHMUND-THOMSON SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 1	PMID:25741868
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9005992	Rothmund-Thomson Syndrome Type 2		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2	PMID:25741868
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306629	Anapc1	anaphase promoting complex subunit 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1353292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306630	Cc2d1b	coiled-coil and C2 domain containing 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306630	Cc2d1b	coiled-coil and C2 domain containing 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306630	Cc2d1b	coiled-coil and C2 domain containing 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306630	Cc2d1b	coiled-coil and C2 domain containing 1B	gene	DOID:1909	melanoma		ISO	RGD:1603884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306630	Cc2d1b	coiled-coil and C2 domain containing 1B	gene	DOID:2394	ovarian cancer		ISO	RGD:1603884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306630	Cc2d1b	coiled-coil and C2 domain containing 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1603884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306630	Cc2d1b	coiled-coil and C2 domain containing 1B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306630	Cc2d1b	coiled-coil and C2 domain containing 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306630	Cc2d1b	coiled-coil and C2 domain containing 1B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306630	Cc2d1b	coiled-coil and C2 domain containing 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306630	Cc2d1b	coiled-coil and C2 domain containing 1B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306630	Cc2d1b	coiled-coil and C2 domain containing 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306630	Cc2d1b	coiled-coil and C2 domain containing 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306631	Zfp324	zinc finger protein 324	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306631	Zfp324	zinc finger protein 324	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306632	Deup1	deuterosome assembly protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306632	Deup1	deuterosome assembly protein 1	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1606948	D	RGD:8554872	20200707	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	
1306632	Deup1	deuterosome assembly protein 1	gene	DOID:3068	glioblastoma		ISO	RGD:1606948	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1306632	Deup1	deuterosome assembly protein 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1606948	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1306632	Deup1	deuterosome assembly protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306632	Deup1	deuterosome assembly protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606948	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306632	Deup1	deuterosome assembly protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306632	Deup1	deuterosome assembly protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306632	Deup1	deuterosome assembly protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306632	Deup1	deuterosome assembly protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306632	Deup1	deuterosome assembly protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306633	Zfp39	zinc finger protein 39	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306633	Zfp39	zinc finger protein 39	gene	DOID:10283	prostate cancer		ISO	RGD:1606870	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:25741868
1306633	Zfp39	zinc finger protein 39	gene	DOID:10283	prostate cancer		ISO	RGD:1606870	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:25741868
1306633	Zfp39	zinc finger protein 39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306636	Asphd1	aspartate beta-hydroxylase domain containing 1	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1605839	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
1306636	Asphd1	aspartate beta-hydroxylase domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306636	Asphd1	aspartate beta-hydroxylase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306637	Atxn2	ataxin 2	gene	DOID:0050955	spinocerebellar ataxia 2		ISO	RGD:1347160	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia type 2	PMID:25741868
1306637	Atxn2	ataxin 2	gene	DOID:0050955	spinocerebellar ataxia 2		ISS	RGD:1315365	D	RGD:13592920	20230718	MouseDO		OMIM:183090	
1306637	Atxn2	ataxin 2	gene	DOID:0050955	spinocerebellar ataxia 2	susceptibility	ISO	RGD:1347160	D	RGD:7240710	20260715	OMIM			
1306637	Atxn2	ataxin 2	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:1347160	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Salt and pepper developmental regression syndrome	PMID:25741868
1306637	Atxn2	ataxin 2	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1347160	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary late onset Parkinson disease	
1306637	Atxn2	ataxin 2	gene	DOID:0060892	late onset Parkinson's disease	susceptibility	ISO	RGD:1347160	D	RGD:7240710	20260715	OMIM			
1306637	Atxn2	ataxin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306637	Atxn2	ataxin 2	gene	DOID:1067	open-angle glaucoma		ISO	RGD:1347160	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:26752265
1306637	Atxn2	ataxin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306637	Atxn2	ataxin 2	gene	DOID:1115	sarcoma		ISO	RGD:1347160	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306637	Atxn2	ataxin 2	gene	DOID:1324	lung cancer		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306637	Atxn2	ataxin 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1347160	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease	
1306637	Atxn2	ataxin 2	gene	DOID:1826	epilepsy		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1306637	Atxn2	ataxin 2	gene	DOID:1909	melanoma		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306637	Atxn2	ataxin 2	gene	DOID:3275	thymoma		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306637	Atxn2	ataxin 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1347160	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:27377857|PMID:28478440
1306637	Atxn2	ataxin 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1347160	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
1306637	Atxn2	ataxin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306637	Atxn2	ataxin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306637	Atxn2	ataxin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306637	Atxn2	ataxin 2	gene	DOID:630	genetic disease		ISO	RGD:1347160	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306637	Atxn2	ataxin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306637	Atxn2	ataxin 2	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1347160	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19224595|PMID:20065139
1306637	Atxn2	ataxin 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1306637	Atxn2	ataxin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306637	Atxn2	ataxin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1306637	Atxn2	ataxin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306637	Atxn2	ataxin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315366	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20675662|PMID:25281567
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:24033266|PMID:24503780|PMID:25741868|PMID:26084686|PMID:26467025|PMID:28492532
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0050700	cardiomyopathy	severity	ISO	RGD:1315367	D	RGD:13605616|PMID:10481911	20180611	RGD		associated with limb-girdle muscular dystrophy	
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0050700	cardiomyopathy	severity	ISO	RGD:1315367	D	RGD:13605617|PMID:23695275	20180611	RGD		DNA:mutation:cds:p.Ser151Ala(mouse)	
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0050700	cardiomyopathy	treatment	ISO	RGD:1315367	D	RGD:13605618|PMID:19218289	20180611	RGD		associated with Sgcd knockout	
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0070681	congenital hydrocephalus		ISO	RGD:1315366	D	RGD:8554872	20260505	ClinVar		ClinVar Annotator: match by term: Congenital hydrocephalus	PMID:29983323
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0080600	COVID-19		ISO	RGD:1315366	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1315366	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive	PMID:10974018|PMID:12794684|PMID:18414213|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26720722|PMID:26968544|PMID:28401079|PMID:28492532
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:10735275|PMID:10838250|PMID:19770540|PMID:25741868|PMID:28492532|PMID:8841194
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F		ISO	RGD:1315366	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20675662
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F		ISO	RGD:1315366	D	RGD:7240710	20130221	OMIM			
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F		ISO	RGD:1315366	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC | ClinVar Annotator: match by term: Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency | ClinVar Annotator: match by term: Muscular dystrophy, limb girdle 2F	PMID:10735275|PMID:10838250|PMID:10974018|PMID:12794684|PMID:14564412|PMID:16199547|PMID:16432241|PMID:16524571|PMID:17164264|PMID:17576681|PMID:18285821|PMID:18414213|PMID:18996010|PMID:19259135|PMID:19770540|PMID:19771157|PMID:20623375|PMID:22095924|PMID:22337857|PMID:23695275|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26467025|PMID:26498160|PMID:26633542|PMID:26720722|PMID:26968544|PMID:28401079|PMID:28492532|PMID:28687063|PMID:28855170|PMID:31019283|PMID:31983221|PMID:32875335|PMID:36291626|PMID:39678382|PMID:8841194|PMID:9536098|PMID:9832045
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F		ISS	RGD:1315367	D	RGD:13592920	20230718	MouseDO		OMIM:601287	
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0110436	dilated cardiomyopathy 1L		ISO	RGD:1315366	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0110436	dilated cardiomyopathy 1L		ISO	RGD:1315366	D	RGD:7240710	20130425	OMIM			
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0110436	dilated cardiomyopathy 1L		ISO	RGD:1315366	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1L | ClinVar Annotator: match by term: SGCD-related condition	PMID:10735275|PMID:10838250|PMID:10974018|PMID:12794684|PMID:14564412|PMID:16432241|PMID:17164264|PMID:18285821|PMID:19259135|PMID:19770540|PMID:19771157|PMID:20623375|PMID:22095924|PMID:22337857|PMID:23695275|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26720722|PMID:26968544|PMID:28401079|PMID:28492532|PMID:28855170|PMID:31019283|PMID:31983221|PMID:36291626|PMID:39624497|PMID:39678382|PMID:8841194
1306638	Sgcd	sarcoglycan, delta	gene	DOID:0110436	dilated cardiomyopathy 1L		ISS	RGD:1315367	D	RGD:13592920	20230718	MouseDO		OMIM:606685	
1306638	Sgcd	sarcoglycan, delta	gene	DOID:11724	limb-girdle muscular dystrophy	severity	ISO	RGD:1315367	D	RGD:13605616|PMID:10481911	20180611	RGD			
1306638	Sgcd	sarcoglycan, delta	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
1306638	Sgcd	sarcoglycan, delta	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26720722|PMID:28492532
1306638	Sgcd	sarcoglycan, delta	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25326637|PMID:25637381|PMID:25741868|PMID:25741913|PMID:26720722|PMID:28492532
1306638	Sgcd	sarcoglycan, delta	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:25741868|PMID:25741913
1306638	Sgcd	sarcoglycan, delta	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
1306638	Sgcd	sarcoglycan, delta	gene	DOID:4362	cervical cancer		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306638	Sgcd	sarcoglycan, delta	gene	DOID:440	neuromuscular disease		ISO	RGD:1315366	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:10735275|PMID:10838250|PMID:16199547|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:8841194
1306638	Sgcd	sarcoglycan, delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1306638	Sgcd	sarcoglycan, delta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1306638	Sgcd	sarcoglycan, delta	gene	DOID:630	genetic disease		ISO	RGD:1315366	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:28492532
1306638	Sgcd	sarcoglycan, delta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306638	Sgcd	sarcoglycan, delta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:26467025|PMID:28492532
1306638	Sgcd	sarcoglycan, delta	gene	DOID:9884	muscular dystrophy		ISO	RGD:1315366	D	RGD:1599341|PMID:8841194	20070130	RGD		Limb-girdle muscular dystrophies (LGMD), OMIM:601411	
1306638	Sgcd	sarcoglycan, delta	gene	DOID:9884	muscular dystrophy		ISO	RGD:1315366	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
1306640	Rpl36a	ribosomal protein L36A	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1315369	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1306640	Rpl36a	ribosomal protein L36A	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1315369	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:0080820	occupational asthma		ISO	RGD:1315371	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25918132
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:1909	melanoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:2661	myoepithelioma		ISO	RGD:1315371	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:3275	thymoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:630	genetic disease		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:9001920	Microphthalmia/Coloboma 9		ISO	RGD:1315371	D	RGD:7240710	20150211	OMIM			
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:9001920	Microphthalmia/Coloboma 9		ISO	RGD:1315371	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9 | ClinVar Annotator: match by term: TENM3-related condition | ClinVar Annotator: match by term: microphthalmia, isolated, with coloboma 9	PMID:22766609|PMID:25741868|PMID:27103084|PMID:28492532|PMID:30513139|PMID:32799327|PMID:33456446
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1315371	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315371	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:9849	Meniere's disease		ISO	RGD:1315371	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Meniere disease	
1306641	Tenm3	teneurin transmembrane protein 3	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:1315371	D	RGD:401851917|PMID:18438686	20231031	RGD		DNA:SNP:: (rs1514483) (human)	
1306643	Fam120a	family with sequence similarity 120 member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306643	Fam120a	family with sequence similarity 120 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306643	Fam120a	family with sequence similarity 120 member A	gene	DOID:10534	stomach cancer		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306643	Fam120a	family with sequence similarity 120 member A	gene	DOID:1909	melanoma		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306643	Fam120a	family with sequence similarity 120 member A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306643	Fam120a	family with sequence similarity 120 member A	gene	DOID:4362	cervical cancer		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306643	Fam120a	family with sequence similarity 120 member A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306643	Fam120a	family with sequence similarity 120 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306643	Fam120a	family with sequence similarity 120 member A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306643	Fam120a	family with sequence similarity 120 member A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1306643	Fam120a	family with sequence similarity 120 member A	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:1315374	D	RGD:11055817|PMID:25953783	20260310	RGD		DNA:SNP: :rs944990	
1306643	Fam120a	family with sequence similarity 120 member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:0070652	Nil-Deshwar neurodevelopmental syndrome		ISO	RGD:1315376	D	RGD:7240710	20250903	OMIM			
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:0070652	Nil-Deshwar neurodevelopmental syndrome		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NIL-DESHWAR NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Nil-Deshwar neurodevelopmental syndrome	PMID:25741868|PMID:37827158
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:0110425	dilated cardiomyopathy 1A		ISS	RGD:1315377	D	RGD:13592920	20180518	MouseDO		OMIM:115200	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:11162	respiratory failure		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:37827158
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:37827158
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:13620	patent foramen ovale		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:37827158
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1315376	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1315376	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:540	strabismus		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:37827158
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:6000	congestive heart failure		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:37827158
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1315376	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:820	myocarditis		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocarditis	PMID:37827158
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315376	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:32814769
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:9004992	Apnea		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:37827158
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:9005077	Joint Instability		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:37827158
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:37827158
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:9007001	Bradycardia		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:37827158
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:37827158
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1315376	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:31888761
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1306644	Dot1l	DOT1 like histone lysine methyltransferase	gene	DOID:9953	acute biphenotypic leukemia	treatment	ISO	RGD:1315376	D	RGD:9588291|PMID:23801631	20141024	RGD			
1306645	Znrf2	zinc and ring finger 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306645	Znrf2	zinc and ring finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306645	Znrf2	zinc and ring finger 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306645	Znrf2	zinc and ring finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306646	Klf11	KLF transcription factor 11	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1605424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:15774581|PMID:18199129|PMID:25741868|PMID:28492532|PMID:34393998
1306646	Klf11	KLF transcription factor 11	gene	DOID:0111106	maturity-onset diabetes of the young type 7		ISO	RGD:1605424	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306646	Klf11	KLF transcription factor 11	gene	DOID:0111106	maturity-onset diabetes of the young type 7		ISO	RGD:1605424	D	RGD:7240710	20130221	OMIM			
1306646	Klf11	KLF transcription factor 11	gene	DOID:0111106	maturity-onset diabetes of the young type 7		ISO	RGD:1605424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KLF11-related condition | ClinVar Annotator: match by term: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 7	PMID:15774581|PMID:17130512|PMID:18199129|PMID:18593768|PMID:19122346|PMID:19843526|PMID:23589285|PMID:25741868|PMID:28492532|PMID:29758564|PMID:31124255|PMID:32041611|PMID:33046911|PMID:33538814|PMID:34393998|PMID:34458657|PMID:35108381
1306646	Klf11	KLF transcription factor 11	gene	DOID:10534	stomach cancer		ISO	RGD:1605424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306646	Klf11	KLF transcription factor 11	gene	DOID:1115	sarcoma		ISO	RGD:1605424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306646	Klf11	KLF transcription factor 11	gene	DOID:1324	lung cancer		ISO	RGD:1605424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306646	Klf11	KLF transcription factor 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306646	Klf11	KLF transcription factor 11	gene	DOID:3275	thymoma		ISO	RGD:1605424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306646	Klf11	KLF transcription factor 11	gene	DOID:4195	hyperglycemia		ISO	RGD:1605424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperglycemia	PMID:25741868
1306646	Klf11	KLF transcription factor 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306646	Klf11	KLF transcription factor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306646	Klf11	KLF transcription factor 11	gene	DOID:576	proteinuria		ISO	RGD:1605424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868
1306646	Klf11	KLF transcription factor 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306646	Klf11	KLF transcription factor 11	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1605424	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1306646	Klf11	KLF transcription factor 11	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1605424	D	RGD:2311539|PMID:18505768	20090723	RGD			
1306646	Klf11	KLF transcription factor 11	gene	DOID:9351	diabetes mellitus		ISO	RGD:1605424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:15774581|PMID:17130512|PMID:18414213|PMID:18593768|PMID:19122346|PMID:19843526|PMID:25741868|PMID:28492532
1306646	Klf11	KLF transcription factor 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1605424	D	RGD:2311540|PMID:15774581	20090723	RGD		DNA:polymorphisms: :p.Q62R, p.A347S, p.T220M (human)	
1306646	Klf11	KLF transcription factor 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1605424	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset	PMID:15774581|PMID:18199129|PMID:25741868|PMID:28492532|PMID:34393998
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:28492532|PMID:33239752
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:0081243	rhizomelic chondrodysplasia punctate type 4		ISO	RGD:1315381	D	RGD:7240710	20200603	OMIM			
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:0081243	rhizomelic chondrodysplasia punctate type 4		ISO	RGD:1315381	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER	
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:1324	lung cancer		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:1826	epilepsy		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:33239752
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:630	genetic disease		ISO	RGD:1315381	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:25741868|PMID:33239752
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:25741868|PMID:28492532|PMID:33239752
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:9006244	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY		ISO	RGD:1315381	D	RGD:7240710	20210616	OMIM			
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:9006244	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY		ISO	RGD:1315381	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FAR1-related condition | ClinVar Annotator: match by term: Spastic paraparesis-cataracts-speech delay syndrome	PMID:25741868|PMID:28492532|PMID:33239752
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532|PMID:33239752
1306647	Far1	fatty acyl CoA reductase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306648	Usp29	ubiquitin specific peptidase 29	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306649	Spryd4	SPRY domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306652	Prss16	serine protease 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306652	Prss16	serine protease 16	gene	DOID:10534	stomach cancer		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306652	Prss16	serine protease 16	gene	DOID:3275	thymoma		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306652	Prss16	serine protease 16	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306652	Prss16	serine protease 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306652	Prss16	serine protease 16	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306652	Prss16	serine protease 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306652	Prss16	serine protease 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306653	Tspyl4	TSPY-like 4	gene	DOID:1909	melanoma		ISO	RGD:1315389	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1306654	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306654	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:1324	lung cancer		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306654	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306654	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306654	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:9002644	Premature Aging		ISO	RGD:1315391	D	RGD:10059413|PMID:16476774	20150817	RGD			
1306654	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306654	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306654	Bub3	BUB3 mitotic checkpoint protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:0050742	nicotine dependence		ISO	RGD:1315392	D	RGD:11554173	20250304	CTD		CTD Direct Evidence: marker/mechanism	PMID:38025780
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:0080600	COVID-19		ISO	RGD:1315392	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:1059	intellectual disability		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:10907	microcephaly		ISO	RGD:1315392	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:1115	sarcoma		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1315392	D	RGD:1578806|PMID:9126485	19990101	RGD			
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:1143	exotropia		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:11476	osteoporosis		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:25741868
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:11782	astigmatism		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:1324	lung cancer		ISO	RGD:1315392	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:1909	melanoma		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:2843	long QT syndrome		ISO	RGD:1315392	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:3070	high grade glioma		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:3275	thymoma		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:4362	cervical cancer		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:5041	esophageal cancer		ISO	RGD:1315392	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:8619	recurrent hypersomnia		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypersomnia	PMID:25741868
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intracranial hemorrhage	PMID:25741868
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:9003133	Hypertelorism		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:9007573	Flatfoot		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306655	Arvcf	ARVCF, delta catenin family member	gene	DOID:988	mitral valve prolapse		ISO	RGD:1315392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:25741868
1306656	Inca1	inhibitor of CDK, cyclin A1 interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306656	Inca1	inhibitor of CDK, cyclin A1 interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306656	Inca1	inhibitor of CDK, cyclin A1 interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604452	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:10534	stomach cancer		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:1115	sarcoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:3275	thymoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1315395	D	RGD:11554173	20221213	CTD		CTD Direct Evidence: marker/mechanism	PMID:28811376
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:4362	cervical cancer		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:5041	esophageal cancer		ISO	RGD:1315395	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306657	Usp32	ubiquitin specific peptidase 32	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306658	Nabp1	nucleic acid binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306658	Nabp1	nucleic acid binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306658	Nabp1	nucleic acid binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1603967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306658	Nabp1	nucleic acid binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306658	Nabp1	nucleic acid binding protein 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1603967	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
1306658	Nabp1	nucleic acid binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603967	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306658	Nabp1	nucleic acid binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306660	Use1	unconventional SNARE in the ER 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603634	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306660	Use1	unconventional SNARE in the ER 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603634	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306660	Use1	unconventional SNARE in the ER 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306660	Use1	unconventional SNARE in the ER 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1603634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:0060180	colitis	treatment	IEP		D	RGD:2298659|PMID:17543437	20131120	RGD			
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:0060647	fetal encasement syndrome		ISO	RGD:1315401	D	RGD:7240710	20130221	OMIM			
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:0060647	fetal encasement syndrome		ISO	RGD:1315401	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHUK-related condition | ClinVar Annotator: match by term: Cocoon syndrome	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:0060647	fetal encasement syndrome		ISS	RGD:1315402	D	RGD:13592920	20230718	MouseDO		OMIM:613630	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:0080006	bone development disease		ISO	RGD:1315401	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10346820
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:10283	prostate cancer		ISO	RGD:1315401	D	RGD:13504773|PMID:26435478	20180123	RGD		protein:increased serine phosphorylation:prostate gland	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:10534	stomach cancer		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:1176	bronchial disease	treatment	IEP		D	RGD:736802360|PMID:36152413	20260728	RGD			
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:12849	autistic disorder		ISO	RGD:1315401	D	RGD:11554173	20200310	CTD		CTD Direct Evidence: marker/mechanism	PMID:20957522
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:1324	lung cancer		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:1909	melanoma		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:219	colon cancer		ISO	RGD:1315401	D	RGD:153305944|PMID:16774932	20220810	RGD		protein:increased expression:colon (human)	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:2526	prostate adenocarcinoma	treatment	ISO	RGD:1315402	D	RGD:13504774|PMID:26379052	20180123	RGD			
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:2841	asthma		ISO	RGD:1315402	D	RGD:5133701|PMID:18643924	20110627	RGD			
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:3571	liver cancer		ISO	RGD:1315401	D	RGD:153305911|PMID:27367027	20220809	RGD		human cells in mouse model	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:4159	skin cancer		ISO	RGD:1315402	D	RGD:13504775|PMID:21755017	20180123	RGD			
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:4362	cervical cancer		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:630	genetic disease		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:674	cleft palate		ISO	RGD:1315401	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10346820
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:767	muscular atrophy	treatment	IMP		D	RGD:7495773|PMID:18827022	20131212	RGD			
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:874	bacterial pneumonia		ISO	RGD:1315402	D	RGD:5133701|PMID:18643924	20110627	RGD			
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1315402	D	RGD:2298657|PMID:17377533	20080714	RGD		associated with prostate adenocarcinoma	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9001946	Skin Abnormalities		ISO	RGD:1315401	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10195895|PMID:10195896|PMID:10346820
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9001984	Fetal Diseases		ISO	RGD:1315401	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10195895|PMID:10195896|PMID:10346820|PMID:20961246
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315402	D	RGD:2291908|PMID:18317887	20080714	RGD		protein:increased expression:prostate gland	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9005372	Inflammation		ISO	RGD:1315402	D	RGD:5133702|PMID:20472709	20110627	RGD			
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1315401	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10195895|PMID:10195896|PMID:10346820|PMID:20961246
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9006857	Bartsocas-Papas Syndrome 2		ISO	RGD:1315401	D	RGD:7240710	20210616	OMIM			
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9006857	Bartsocas-Papas Syndrome 2		ISO	RGD:1315401	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1315401	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20961246
1306661	Chuk	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306662	Plac9	placenta associated 9	gene	DOID:10534	stomach cancer		ISO	RGD:1315403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306662	Plac9	placenta associated 9	gene	DOID:1115	sarcoma		ISO	RGD:1315403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306662	Plac9	placenta associated 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306662	Plac9	placenta associated 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306663	Otop3	otopetrin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306663	Otop3	otopetrin 3	gene	DOID:1324	lung cancer		ISO	RGD:1315404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306663	Otop3	otopetrin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1315404	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306664	Fbxo22	F-box protein 22	gene	DOID:10534	stomach cancer		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306664	Fbxo22	F-box protein 22	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306664	Fbxo22	F-box protein 22	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306664	Fbxo22	F-box protein 22	gene	DOID:3070	high grade glioma		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306664	Fbxo22	F-box protein 22	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306664	Fbxo22	F-box protein 22	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306664	Fbxo22	F-box protein 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306664	Fbxo22	F-box protein 22	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306664	Fbxo22	F-box protein 22	gene	DOID:9009363	Tayoun-Maawali syndrome		ISO	RGD:1315406	D	RGD:7240710	20250730	OMIM			
1306664	Fbxo22	F-box protein 22	gene	DOID:9009363	Tayoun-Maawali syndrome		ISO	RGD:1315406	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TAYOUN-MAAWALI SYNDROME	
1306665	Tle2	TLE family member 2, transcriptional corepressor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306665	Tle2	TLE family member 2, transcriptional corepressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306665	Tle2	TLE family member 2, transcriptional corepressor	gene	DOID:10534	stomach cancer		ISO	RGD:1315408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306665	Tle2	TLE family member 2, transcriptional corepressor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306665	Tle2	TLE family member 2, transcriptional corepressor	gene	DOID:1115	sarcoma		ISO	RGD:1315408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306665	Tle2	TLE family member 2, transcriptional corepressor	gene	DOID:1324	lung cancer		ISO	RGD:1315408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306665	Tle2	TLE family member 2, transcriptional corepressor	gene	DOID:4362	cervical cancer		ISO	RGD:1315408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306665	Tle2	TLE family member 2, transcriptional corepressor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306665	Tle2	TLE family member 2, transcriptional corepressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306665	Tle2	TLE family member 2, transcriptional corepressor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315408	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306665	Tle2	TLE family member 2, transcriptional corepressor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306665	Tle2	TLE family member 2, transcriptional corepressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306665	Tle2	TLE family member 2, transcriptional corepressor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:0060249	scoliosis		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:0070065	autosomal dominant intellectual developmental disorder 35		ISO	RGD:1315410	D	RGD:7240710	20160420	OMIM			
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:0070065	autosomal dominant intellectual developmental disorder 35		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HOUGE-JANSSENS SYNDROME 1 | ClinVar Annotator: match by term: Houge-Janssens syndrome 1 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 | ClinVar Annotator: match by term: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | ClinVar Annotator: match by term: PPP2R5D-related condition	PMID:19344873|PMID:19716788|PMID:24896178|PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32595695|PMID:32743835|PMID:33004838|PMID:33338668|PMID:34490615|PMID:35586607|PMID:35887114|PMID:36216457|PMID:38150499|PMID:38764027|PMID:40712571
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:0080380	nephrotic syndrome type 5		ISO	RGD:10448644	D	RGD:9068941	20250410	ClinVar		ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities	PMID:25741868|PMID:30676711|PMID:32295525
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:10376	amblyopia		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:10534	stomach cancer		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:1059	intellectual disability		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:30676711|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33098144|PMID:33338668|PMID:34490615|PMID:34906502|PMID:35887114|PMID:36216457|PMID:39169681
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:1059	intellectual disability		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:30676711|PMID:33098144|PMID:34906502|PMID:36216457|PMID:39169681
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:10754	otitis media		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Otitis media	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:1115	sarcoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:11383	cryptorchidism		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:11782	astigmatism		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Astigmatism	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:11830	myopia		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:1205	allergic disease		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Allergy	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:12849	autistic disorder		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:12849	autistic disorder		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:1826	epilepsy		ISO	RGD:1315410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:19344873|PMID:25741868|PMID:26168268|PMID:27350047|PMID:28492532|PMID:28867141|PMID:31785789|PMID:32074998|PMID:32371413|PMID:35586607|PMID:36216457
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:1909	melanoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:2340	craniosynostosis		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:3044	food allergy		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Food allergy	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:3070	high grade glioma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:4362	cervical cancer		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:4481	allergic rhinitis		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:25741868|PMID:26576547|PMID:28492532
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:535	sleep disorder		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: sleep disturbance	PMID:25741868
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:540	strabismus		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:6039	uveal melanoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:630	genetic disease		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19344873|PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:35586607|PMID:36216457
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:6364	migraine		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:19344873|PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:35586607
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:680	tauopathy		ISO	RGD:1315411	D	RGD:13515115|PMID:21482799	20180405	RGD			
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:8488	polyhydramnios		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9001581	Constipation		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Constipation	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9003507	Premature Birth		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9003591	Telecanthus		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9003816	Macrocephaly		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315410	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:19344873|PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:35586607
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9007356	Eczema		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	PMID:25741868|PMID:28492532
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19344873|PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:32371413|PMID:35586607
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:25972378|PMID:26168268|PMID:26576547|PMID:28492532|PMID:32074998|PMID:35813072|PMID:36216457|PMID:36833222|PMID:39201832|PMID:39825153
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:905	Zellweger syndrome		ISO	RGD:1315410	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
1306666	Ppp2r5d	protein phosphatase 2, regulatory subunit B', delta	gene	DOID:936	brain disease		ISO	RGD:1315410	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
1306668	Fis1	fission, mitochondrial 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:0110721	neuronal ceroid lipofuscinosis 1		ISO	RGD:1315413	D	RGD:11554173	20171128	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224254
1306668	Fis1	fission, mitochondrial 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1315413	D	RGD:7800727|PMID:19605646	20170131	RGD		protein:increased expression:hippocampus (human)	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:1324	lung cancer		ISO	RGD:1315413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:13711	dental fluorosis		IEP		D	RGD:12437081|PMID:24958380	20170127	RGD		mRNA, protein:increased expression:kidney (rat)	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:3021	acute kidney failure		IEP		D	RGD:12910862|PMID:26480480	20170627	RGD		protein:decreased expression:kidney (rat)	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:4483	rhinitis		IEP		D	RGD:13204839|PMID:28146064	20170721	RGD		mRNA, protein:increased expression:nasal cavity mucosa (rat)	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:5844	myocardial infarction		IEP		D	RGD:11557988|PMID:24427319	20170127	RGD		protein:increased expression:plantaris (rat)	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:784	chronic kidney disease	treatment	IEP		D	RGD:12738369|PMID:27801955	20170201	RGD			
1306668	Fis1	fission, mitochondrial 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	IEP		D	RGD:12437066|PMID:26079325	20170126	RGD			
1306668	Fis1	fission, mitochondrial 1	gene	DOID:9000310	Lung Injury		IEP		D	RGD:12437080|PMID:25560372	20170127	RGD		protein:increased expression:lung (rat)	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:9001553	Spinal Cord Compression	treatment	IEP		D	RGD:12437079|PMID:25595990	20170127	RGD			
1306668	Fis1	fission, mitochondrial 1	gene	DOID:9005526	Pulmonary Edema of Mountaineers		IEP		D	RGD:12738217|PMID:23517027	20170130	RGD		mRNA:increased expression:lung (rat)	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:1315413	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:20886221
1306668	Fis1	fission, mitochondrial 1	gene	DOID:9007588	Heart Injuries		IEP		D	RGD:12437078|PMID:25677476	20170127	RGD		mRNA, protein:increased expression:heart (rat)	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:9007692	Insulin Resistance		IEP		D	RGD:12453042|PMID:24663492	20170830	RGD		protein:increased expression:liver (rat)	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:9007838	Myocardial Reperfusion Injury	ameliorates	ISO	RGD:1315414	D	RGD:329337366|PMID:30259997	20230428	RGD			
1306668	Fis1	fission, mitochondrial 1	gene	DOID:9008824	Sarcopenia		IEP		D	RGD:12738219|PMID:23220115	20170130	RGD		protein:increased expression:extensor digitorum longus  (rat)	
1306668	Fis1	fission, mitochondrial 1	gene	DOID:9452	steatotic liver disease		IEP		D	RGD:12453042|PMID:24663492	20170127	RGD		protein:increased expression:liver (rat)	
1306669	Arhgap24	Rho GTPase activating protein 24	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306669	Arhgap24	Rho GTPase activating protein 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306669	Arhgap24	Rho GTPase activating protein 24	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1315415	D	RGD:8554872	20180508	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1	
1306669	Arhgap24	Rho GTPase activating protein 24	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1315415	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	
1306669	Arhgap24	Rho GTPase activating protein 24	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1315415	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	
1306669	Arhgap24	Rho GTPase activating protein 24	gene	DOID:1324	lung cancer		ISO	RGD:1315415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306669	Arhgap24	Rho GTPase activating protein 24	gene	DOID:1909	melanoma		ISO	RGD:1315415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306669	Arhgap24	Rho GTPase activating protein 24	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
1306669	Arhgap24	Rho GTPase activating protein 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1315415	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306669	Arhgap24	Rho GTPase activating protein 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306669	Arhgap24	Rho GTPase activating protein 24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306670	Rnf139	ring finger protein 139	gene	DOID:1909	melanoma		ISO	RGD:1315417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306670	Rnf139	ring finger protein 139	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1315417	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306670	Rnf139	ring finger protein 139	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1315417	D	RGD:1599629|PMID:9689122	20070209	RGD			
1306670	Rnf139	ring finger protein 139	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1315417	D	RGD:2289870|PMID:17539022	20080215	RGD			
1306670	Rnf139	ring finger protein 139	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1315417	D	RGD:7240710	20130221	OMIM			
1306670	Rnf139	ring finger protein 139	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306671	Med4	mediator complex subunit 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306671	Med4	mediator complex subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306671	Med4	mediator complex subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306671	Med4	mediator complex subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306671	Med4	mediator complex subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306671	Med4	mediator complex subunit 4	gene	DOID:289	endometriosis		ISO	RGD:1354139	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
1306671	Med4	mediator complex subunit 4	gene	DOID:3070	high grade glioma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306671	Med4	mediator complex subunit 4	gene	DOID:3275	thymoma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306671	Med4	mediator complex subunit 4	gene	DOID:4362	cervical cancer	severity	ISO	RGD:1354139	D	RGD:12880436|PMID:19911042	20170508	RGD		mRNA:decreased expression:uterine cervix (human)	
1306671	Med4	mediator complex subunit 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306671	Med4	mediator complex subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1354139	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306671	Med4	mediator complex subunit 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306671	Med4	mediator complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306671	Med4	mediator complex subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306671	Med4	mediator complex subunit 4	gene	DOID:768	retinoblastoma		ISO	RGD:1354139	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma	PMID:12541220|PMID:14722923|PMID:15877282|PMID:17096365|PMID:17301081|PMID:22180099|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255
1306672	Nanos3	nanos C2HC-type zinc finger 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306672	Nanos3	nanos C2HC-type zinc finger 3	gene	DOID:1115	sarcoma		ISO	RGD:1315421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306672	Nanos3	nanos C2HC-type zinc finger 3	gene	DOID:3070	high grade glioma		ISO	RGD:1315421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306672	Nanos3	nanos C2HC-type zinc finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306672	Nanos3	nanos C2HC-type zinc finger 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306673	Klhl11	kelch-like family member 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306674	Zfp821	zinc finger protein 821	gene	DOID:10534	stomach cancer		ISO	RGD:1604613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306674	Zfp821	zinc finger protein 821	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604613	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306674	Zfp821	zinc finger protein 821	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306674	Zfp821	zinc finger protein 821	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306674	Zfp821	zinc finger protein 821	gene	DOID:9003566	Mesothelioma		ISO	RGD:1604613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:25741868|PMID:34906519
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:0060535	Warsaw breakage syndrome		ISO	RGD:1315426	D	RGD:7240710	20130221	OMIM			
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:0060535	Warsaw breakage syndrome		ISO	RGD:1315426	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: WARSAW BREAKAGE SYNDROME | ClinVar Annotator: match by term: Warsaw breakage syndrome	PMID:16199547|PMID:20696886|PMID:23033317|PMID:25741868|PMID:26089203|PMID:30216658|PMID:32071282|PMID:32855419|PMID:33669056|PMID:34906519|PMID:37838930
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:10534	stomach cancer		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:10907	microcephaly		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:34906519
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:12849	autistic disorder		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:34906519
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:1324	lung cancer		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:1826	epilepsy		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:34906519
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:1909	melanoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:3275	thymoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:4362	cervical cancer		ISO	RGD:1315426	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1315426	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:630	genetic disease		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32855419
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:34906519
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:34906519
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:9003507	Premature Birth		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:34906519
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:1315426	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25561740
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:34906519
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:9007661	Dwarfism		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:30216658
1306675	Ddx11	DEAD/H-box helicase 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:32855419
1306676	Rbm43	RNA binding motif protein 43	gene	DOID:4362	cervical cancer		ISO	RGD:1604694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306676	Rbm43	RNA binding motif protein 43	gene	DOID:5041	esophageal cancer		ISO	RGD:1604694	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306676	Rbm43	RNA binding motif protein 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:1059	intellectual disability		ISO	RGD:1315429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:10907	microcephaly		ISO	RGD:1315429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1315429	D	RGD:1358592|PMID:14569117	19990101	RGD			
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:1115	sarcoma		ISO	RGD:1315429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:1657	ventricular septal defect		ISO	RGD:1315429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:1909	melanoma		ISO	RGD:1315429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:4362	cervical cancer		ISO	RGD:1315429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1315429	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:630	genetic disease		ISO	RGD:1315429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:36413997
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1315429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:9002933	Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia		ISO	RGD:1315429	D	RGD:7240710	20190315	OMIM			
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:9002933	Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia		ISO	RGD:1315429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DOCK3-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA | ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	PMID:19344873|PMID:25741868|PMID:28492532|PMID:30976111
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28195318
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1315429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306677	Dock3	dedicator of cyto-kinesis 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306678	Brdt	bromodomain testis associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306678	Brdt	bromodomain testis associated	gene	DOID:0070163	spermatogenic failure 21		ISO	RGD:1315431	D	RGD:7240710	20190315	OMIM			
1306678	Brdt	bromodomain testis associated	gene	DOID:0070163	spermatogenic failure 21		ISO	RGD:1315431	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRDT-related condition | ClinVar Annotator: match by term: Spermatogenic failure 21 | ClinVar Annotator: match by term: spermatogenic failure 21	PMID:25741868
1306678	Brdt	bromodomain testis associated	gene	DOID:1324	lung cancer		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306678	Brdt	bromodomain testis associated	gene	DOID:14227	azoospermia		ISO	RGD:1315431	D	RGD:9586359|PMID:22035730	20140930	RGD		protein:decreased expression:testis:	
1306678	Brdt	bromodomain testis associated	gene	DOID:14227	azoospermia	susceptibility	ISO	RGD:1315431	D	RGD:9586360|PMID:22016351	20140930	RGD		DNA:SNP: :rs3088232(human)	
1306678	Brdt	bromodomain testis associated	gene	DOID:14228	oligospermia	susceptibility	ISO	RGD:1315431	D	RGD:9586360|PMID:22016351	20140930	RGD		DNA:SNP: :rs3088232(human)	
1306678	Brdt	bromodomain testis associated	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306678	Brdt	bromodomain testis associated	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1315431	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1306678	Brdt	bromodomain testis associated	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306678	Brdt	bromodomain testis associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39039281
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:0050486	exanthem		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:0050581	brachydactyly		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:0050856	oppositional defiant disorder		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oppositional defiant disorder	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:34971082
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315433	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252227|PMID:35663546
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315433	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:0060135	apraxia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:0060249	scoliosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:0060260	ptosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:35861666|PMID:9536098
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:0070445	early-onset dystonia and/or spastic paraplegia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:10376	amblyopia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: amblyopia	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:10534	stomach cancer		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:1059	intellectual disability		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17576681|PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25424714|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27667800|PMID:28492532|PMID:29258554|PMID:30544257|PMID:32124548|PMID:32725632|PMID:35330407|PMID:35833929|PMID:35861666|PMID:37586838|PMID:9536098
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:1059	intellectual disability		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:17576681|PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25424714|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:27667800|PMID:28492532|PMID:29258554|PMID:30544257|PMID:32124548|PMID:32725632|PMID:35330407|PMID:35346031|PMID:35599849|PMID:35833929|PMID:35861666|PMID:35970914|PMID:37471090|PMID:37586838|PMID:37658852|PMID:38259611|PMID:9536098
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:1059	intellectual disability		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Borderline intellectual disability | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:17576681|PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:27667800|PMID:28492532|PMID:29258554|PMID:30544257|PMID:32124548|PMID:34971082|PMID:35330407|PMID:35346031|PMID:35599849|PMID:35833929|PMID:35861666|PMID:35970914|PMID:37471090|PMID:37586838|PMID:37658852|PMID:38259611|PMID:9536098
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:10754	otitis media		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:34971082
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:10892	hypospadias		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:10907	microcephaly		ISO	RGD:1315433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: microcephaly	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25533962|PMID:25652421|PMID:25741868|PMID:27667800|PMID:28492532|PMID:35330407|PMID:35599849|PMID:37586838
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:29258554|PMID:34971082
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:11111	hydronephrosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:1115	sarcoma		ISO	RGD:1315433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:11383	cryptorchidism		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25413698|PMID:25741868|PMID:26633542|PMID:27605097|PMID:28449295|PMID:28492532|PMID:35346031|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:11782	astigmatism		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:11830	myopia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:11836	clubfoot		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:12270	coloboma		ISO	RGD:1315433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25533962|PMID:25652421|PMID:25741868|PMID:27667800|PMID:28492532
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:12849	autistic disorder		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:17576681|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:28492532|PMID:32124548|PMID:32581362|PMID:35346031|PMID:35833929|PMID:35861666|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611|PMID:9536098
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:13922	eosinophilic esophagitis		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Eosinophilic esophagitis	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:1459	hypothyroidism		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39039281
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:14780	KBG syndrome		ISO	RGD:1315433	D	RGD:11068938|PMID:21782149	20221117	RGD		DNA:deletions, SNPs:CDS:multiple (human)	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:14780	KBG syndrome		ISO	RGD:1315433	D	RGD:11086621|PMID:25424714	20221115	RGD		DNA:mutations:CDS:multiple (human)	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:14780	KBG syndrome		ISO	RGD:1315433	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:14780	KBG syndrome		ISO	RGD:1315433	D	RGD:7240710	20141015	OMIM			
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:14780	KBG syndrome		ISO	RGD:1315433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG SYNDROME | ClinVar Annotator: match by term: KBG syndrome	PMID:1218237|PMID:15378538|PMID:15384099|PMID:15523620|PMID:15955779|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:19920853|PMID:21654729|PMID:21782149|PMID:23463723|PMID:23494856|PMID:24033266|PMID:25125236|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25473036|PMID:25533962|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26615199|PMID:26633542|PMID:27055092|PMID:27605097|PMID:27620904|PMID:27667800|PMID:27900361|PMID:28250421|PMID:28333917|PMID:28422132|PMID:28449295|PMID:28492532|PMID:28529015|PMID:28976722|PMID:29258554|PMID:29565525|PMID:29758562|PMID:30544257|PMID:30642272|PMID:30919572|PMID:30945278|PMID:31191201|PMID:31337854|PMID:31501239|PMID:31607427|PMID:31690835|PMID:32005694|PMID:32124548|PMID:32222090|PMID:32238909|PMID:32581362|PMID:32725632|PMID:33057194|PMID:33144682|PMID:33955014|PMID:34012832|PMID:34440431|PMID:34971082|PMID:35175682|PMID:35330407|PMID:35346031|PMID:35599849|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35861666|PMID:35906703|PMID:35970914|PMID:35982159|PMID:36446582|PMID:36628575|PMID:37226940|PMID:37471090|PMID:37586838|PMID:37658852|PMID:37964495|PMID:38259611|PMID:38317675|PMID:39039281|PMID:39135054|PMID:40127276|PMID:9536098
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:14780	KBG syndrome		ISS	RGD:1552507	D	RGD:13592920	20230718	MouseDO		OMIM:148050	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:1588	thrombocytopenia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:1657	ventricular septal defect		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:28449295|PMID:28492532
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:1826	epilepsy		ISO	RGD:1315433	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:1826	epilepsy		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:27605097|PMID:28422132|PMID:28492532|PMID:29565525|PMID:32581362|PMID:34012832|PMID:35330407|PMID:36446582|PMID:38317675
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:1909	melanoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:1969	cerebral palsy		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28449295|PMID:28492532
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:2030	anxiety disorder		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:2234	focal epilepsy		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:30544257
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:2340	craniosynostosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:2355	anemia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:2841	asthma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:2975	cystic kidney disease		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868|PMID:32581362
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:420	hypertrichosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:4362	cervical cancer		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:4428	dyslexia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:4702	mongolian spot		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:535	sleep disorder		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disorder | ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:27605097
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:540	strabismus		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:557	kidney disease		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:630	genetic disease		ISO	RGD:1315433	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15378538|PMID:15955779|PMID:17576681|PMID:19344873|PMID:21782149|PMID:24828792|PMID:25125236|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25473036|PMID:25652421|PMID:25741868|PMID:25954003|PMID:26467025|PMID:26615199|PMID:26633542|PMID:27605097|PMID:27618451|PMID:27667800|PMID:28490743|PMID:28492532|PMID:28600779|PMID:29258554|PMID:29565525|PMID:30544257|PMID:32124548|PMID:34012832|PMID:34440431|PMID:35346031|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35861666|PMID:35970914|PMID:36413997|PMID:36446582|PMID:37471090|PMID:37658852|PMID:38259611|PMID:38317675|PMID:39039281|PMID:9536098
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:630	genetic disease		ISO	RGD:1315433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15378538|PMID:15955779|PMID:17576681|PMID:19344873|PMID:21782149|PMID:25125236|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25473036|PMID:25652421|PMID:25741868|PMID:25954003|PMID:26467025|PMID:26615199|PMID:26633542|PMID:27605097|PMID:27618451|PMID:27667800|PMID:28422132|PMID:28490743|PMID:28492532|PMID:28600779|PMID:29258554|PMID:29565525|PMID:30544257|PMID:32124548|PMID:34012832|PMID:34440431|PMID:34971082|PMID:35330407|PMID:35346031|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35861666|PMID:35970914|PMID:36413997|PMID:36446582|PMID:37471090|PMID:37658852|PMID:38259611|PMID:38317675|PMID:39039281|PMID:9536098
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:6364	migraine		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:28492532
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:674	cleft palate		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:83	cataract		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:17576681|PMID:28492532|PMID:35861666|PMID:9536098
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9000343	Vision Disorders		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:32581362
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9000495	Tremor		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9001031	Retrognathia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28449295|PMID:28492532|PMID:32581362
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anorectal anomaly	PMID:28449295|PMID:28492532
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9001510	Funnel Chest		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9001722	Dysarthria		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1315433	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17986521
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25413698|PMID:25741868|PMID:26633542|PMID:27605097|PMID:35346031|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9002720	Splenomegaly		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:25741868|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9002914	Familial Sudden Death		ISO	RGD:1315433	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death in childhood	PMID:25413698|PMID:25741868|PMID:31191201
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9003133	Hypertelorism		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25413698|PMID:25741868|PMID:26633542|PMID:27605097|PMID:35346031|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9003163	Heart Block		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart block	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9003760	Myalgia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9004147	Anosmia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anosmia	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315433	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889|PMID:29942082
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315433	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: hearing impairment	PMID:25741868|PMID:32581362
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9005077	Joint Instability		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: speech delay	PMID:25741868|PMID:28492532
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39039281
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9005560	Congenital Hip Dislocation		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hip dislocation	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:17576681|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:32124548|PMID:32581362|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35861666|PMID:35970914|PMID:9536098
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9005616	Micrognathism		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1315433	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:32581362
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9007573	Flatfoot		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:25356970|PMID:25741868
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9007661	Dwarfism		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17576681|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25473036|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:27667800|PMID:28449295|PMID:28492532|PMID:29258554|PMID:35330407|PMID:35346031|PMID:35599849|PMID:35833929|PMID:35861666|PMID:35970914|PMID:37471090|PMID:37586838|PMID:37658852|PMID:38259611|PMID:9536098
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25533962|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:27667800|PMID:28492532|PMID:31607427|PMID:32124548|PMID:32581362|PMID:33955014|PMID:34440431|PMID:35346031|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611|PMID:39039281
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:34971082
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9008327	Bone Cysts		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone cyst	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9008582	Developmental Disease		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:32124548
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9008681	Deafness		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness | ClinVar Annotator: match by term: deafness	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39039281
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Otitis media with effusion	PMID:25413698|PMID:25741868|PMID:26633542|PMID:27605097|PMID:35346031|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:34971082
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9834	hyperopia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9970	obesity		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1306679	Ankrd11	ankyrin repeat domain 11	gene	DOID:9993	hypoglycemia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
1306681	Smoc2	SPARC related modular calcium binding 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306681	Smoc2	SPARC related modular calcium binding 2	gene	DOID:0070704	dentin dysplasia type IA		ISO	RGD:1315436	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306681	Smoc2	SPARC related modular calcium binding 2	gene	DOID:0070704	dentin dysplasia type IA		ISO	RGD:1315436	D	RGD:7240710	20141112	OMIM			
1306681	Smoc2	SPARC related modular calcium binding 2	gene	DOID:0070704	dentin dysplasia type IA		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE IA | ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: SMOC2-related condition	PMID:25741868|PMID:28492532
1306681	Smoc2	SPARC related modular calcium binding 2	gene	DOID:1115	sarcoma		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306681	Smoc2	SPARC related modular calcium binding 2	gene	DOID:1909	melanoma		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306681	Smoc2	SPARC related modular calcium binding 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306681	Smoc2	SPARC related modular calcium binding 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306681	Smoc2	SPARC related modular calcium binding 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306681	Smoc2	SPARC related modular calcium binding 2	gene	DOID:5419	schizophrenia		ISO	RGD:1315436	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1306681	Smoc2	SPARC related modular calcium binding 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1306681	Smoc2	SPARC related modular calcium binding 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315436	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306681	Smoc2	SPARC related modular calcium binding 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306681	Smoc2	SPARC related modular calcium binding 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1306682	Mien1	migration and invasion enhancer 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306682	Mien1	migration and invasion enhancer 1	gene	DOID:1115	sarcoma		ISO	RGD:1315438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306682	Mien1	migration and invasion enhancer 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1603686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:1324	lung cancer		ISO	RGD:1603686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:1909	melanoma		ISO	RGD:1603686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:2394	ovarian cancer		ISO	RGD:1603686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:3275	thymoma		ISO	RGD:1603686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1603686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603686	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1603686	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306683	Larp1	La ribonucleoprotein 1, translational regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:1603686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306684	Spaca3	sperm acrosome associated 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306684	Spaca3	sperm acrosome associated 3	gene	DOID:1909	melanoma		ISO	RGD:1315441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306684	Spaca3	sperm acrosome associated 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306685	Pnpla1	patatin like domain 1, omega-hydroxyceramide transacylase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306685	Pnpla1	patatin like domain 1, omega-hydroxyceramide transacylase	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1315443	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:22246504|PMID:25741868|PMID:26691440|PMID:26778108|PMID:28093717|PMID:28369476|PMID:28403545|PMID:28492532|PMID:30578701|PMID:31168818|PMID:34851365|PMID:34908195|PMID:35734965|PMID:35970721
1306685	Pnpla1	patatin like domain 1, omega-hydroxyceramide transacylase	gene	DOID:0060719	autosomal recessive congenital ichthyosis 10		ISO	RGD:1315443	D	RGD:7240710	20140911	OMIM			
1306685	Pnpla1	patatin like domain 1, omega-hydroxyceramide transacylase	gene	DOID:0060719	autosomal recessive congenital ichthyosis 10		ISO	RGD:1315443	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 | ClinVar Annotator: match by term: PNPLA1-related condition	PMID:22246504|PMID:24344921|PMID:25741868|PMID:26691440|PMID:26778108|PMID:27884779|PMID:28093717|PMID:28369476|PMID:28403545|PMID:28492532|PMID:29624231|PMID:30290227|PMID:30578701|PMID:31120544|PMID:32147742|PMID:33969388|PMID:34899144|PMID:35412663|PMID:35893253|PMID:35970721
1306685	Pnpla1	patatin like domain 1, omega-hydroxyceramide transacylase	gene	DOID:0060719	autosomal recessive congenital ichthyosis 10		ISS	RGD:1622661	D	RGD:13592920	20230718	MouseDO		OMIM:615024	
1306685	Pnpla1	patatin like domain 1, omega-hydroxyceramide transacylase	gene	DOID:1697	ichthyosis		ISO	RGD:1315443	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22246504
1306685	Pnpla1	patatin like domain 1, omega-hydroxyceramide transacylase	gene	DOID:1697	ichthyosis		ISO	RGD:1315443	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:25741868|PMID:26691440|PMID:26778108
1306685	Pnpla1	patatin like domain 1, omega-hydroxyceramide transacylase	gene	DOID:1826	epilepsy		ISO	RGD:1315443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28093717|PMID:28403545|PMID:28492532|PMID:35970721
1306685	Pnpla1	patatin like domain 1, omega-hydroxyceramide transacylase	gene	DOID:1909	melanoma		ISO	RGD:1315443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306685	Pnpla1	patatin like domain 1, omega-hydroxyceramide transacylase	gene	DOID:630	genetic disease		ISO	RGD:1315443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306685	Pnpla1	patatin like domain 1, omega-hydroxyceramide transacylase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306685	Pnpla1	patatin like domain 1, omega-hydroxyceramide transacylase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28093717|PMID:28403545|PMID:28492532|PMID:35970721
1306685	Pnpla1	patatin like domain 1, omega-hydroxyceramide transacylase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28093717|PMID:28403545|PMID:28492532|PMID:35970721
1306686	Mrpl51	mitochondrial ribosomal protein L51	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315444	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306686	Mrpl51	mitochondrial ribosomal protein L51	gene	DOID:0080600	COVID-19		ISO	RGD:1315444	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306686	Mrpl51	mitochondrial ribosomal protein L51	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306686	Mrpl51	mitochondrial ribosomal protein L51	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306687	Noxa1	NADPH oxidase activator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306687	Noxa1	NADPH oxidase activator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306687	Noxa1	NADPH oxidase activator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306687	Noxa1	NADPH oxidase activator 1	gene	DOID:1324	lung cancer		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306687	Noxa1	NADPH oxidase activator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306687	Noxa1	NADPH oxidase activator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315446	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306687	Noxa1	NADPH oxidase activator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306687	Noxa1	NADPH oxidase activator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306687	Noxa1	NADPH oxidase activator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306687	Noxa1	NADPH oxidase activator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306687	Noxa1	NADPH oxidase activator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306687	Noxa1	NADPH oxidase activator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306688	Otub2	OTU deubiquitinase, ubiquitin aldehyde binding 2	gene	DOID:1115	sarcoma		ISO	RGD:1315448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306688	Otub2	OTU deubiquitinase, ubiquitin aldehyde binding 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315448	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306689	Mllt6	MLLT6, PHD finger containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306689	Mllt6	MLLT6, PHD finger containing	gene	DOID:10534	stomach cancer		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306689	Mllt6	MLLT6, PHD finger containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306689	Mllt6	MLLT6, PHD finger containing	gene	DOID:1115	sarcoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306689	Mllt6	MLLT6, PHD finger containing	gene	DOID:1324	lung cancer		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306689	Mllt6	MLLT6, PHD finger containing	gene	DOID:1909	melanoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306689	Mllt6	MLLT6, PHD finger containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306689	Mllt6	MLLT6, PHD finger containing	gene	DOID:3275	thymoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306689	Mllt6	MLLT6, PHD finger containing	gene	DOID:4362	cervical cancer		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306689	Mllt6	MLLT6, PHD finger containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306689	Mllt6	MLLT6, PHD finger containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1315450	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306689	Mllt6	MLLT6, PHD finger containing	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306689	Mllt6	MLLT6, PHD finger containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306689	Mllt6	MLLT6, PHD finger containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:0050632	oculocutaneous albinism		ISS	RGD:1315453	D	RGD:13592920	20180518	MouseDO		OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312	
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1315452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ocular albinism	PMID:14961451|PMID:25741868|PMID:28492532|PMID:28976636|PMID:29345414
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:0070098	oculocutaneous albinism type IV		ISO	RGD:1315452	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:0070098	oculocutaneous albinism type IV		ISO	RGD:1315452	D	RGD:1599921|PMID:14961451	20070221	RGD		DNA:missense mutations, frameshift mutations:cds:multiple (human)	
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:0070098	oculocutaneous albinism type IV		ISO	RGD:1315452	D	RGD:7240710	20130425	OMIM			
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:0070098	oculocutaneous albinism type IV		ISO	RGD:1315452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Albinism, oculocutaneous, type IV | ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE IV | ClinVar Annotator: match by term: Oculocutaneous albinism type 4 | ClinVar Annotator: match by term: SLC45A2-related condition | ClinVar Annotator: match by term: oculocutaneous albinism type 4	PMID:14722913|PMID:14961451|PMID:15565285|PMID:16868655|PMID:16965274|PMID:17044855|PMID:17768386|PMID:18463683|PMID:19220778|PMID:19865097|PMID:20301683|PMID:21287499|PMID:21458243|PMID:22042571|PMID:23165166|PMID:23504663|PMID:24617981|PMID:24845642|PMID:25326637|PMID:25741868|PMID:26573111|PMID:26818737|PMID:27019209|PMID:27706749|PMID:27734839|PMID:28457509|PMID:28492532|PMID:28976636|PMID:29345414|PMID:30019506|PMID:31077556|PMID:31229681|PMID:31589614|PMID:32552135|PMID:34078970|PMID:34838614|PMID:34897530|PMID:36553465|PMID:37327787|PMID:38337174|PMID:38720644
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:0080980	arthrogryposis multiplex congenita-4		ISO	RGD:12064380	D	RGD:9068941	20250717	OMIA		Coat colour, albinism, oculocutaneous type IV	PMID:24647637|PMID:25790827|PMID:28737247|PMID:34751460|PMID:34861369|PMID:35510419|PMID:37277858|PMID:37582787
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:1059	intellectual disability		ISO	RGD:1315452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:14961451|PMID:25741868|PMID:28492532|PMID:28976636|PMID:29345414
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1315452	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578363
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:1909	melanoma		ISO	RGD:1315452	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18563784|PMID:21559390
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1315452	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:28492532|PMID:29345414|PMID:36553465
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1315452	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578363
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:303	substance-related disorder		ISO	RGD:1315452	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:18463683|PMID:21458243|PMID:23504663|PMID:25741868|PMID:26573111|PMID:28492532
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:630	genetic disease		ISO	RGD:1315452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:34838614
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:9001386	Albinism		ISO	RGD:1315452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:14961451|PMID:25741868|PMID:28492532|PMID:28976636|PMID:29345414
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: foveal hypoplasia	PMID:25741868
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:9001981	Weight Loss		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:25741868
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:9004898	Jaundice		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:14961451|PMID:25741868|PMID:28492532|PMID:28976636|PMID:29345414
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:9006017	Skin/Hair/Eye Pigmentation, Variation In, 5		ISO	RGD:1315452	D	RGD:7240710	20200506	OMIM			
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:9006017	Skin/Hair/Eye Pigmentation, Variation In, 5		ISO	RGD:1315452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 5	PMID:14961451|PMID:18463683|PMID:21458243|PMID:23504663|PMID:25326637|PMID:25741868|PMID:26573111|PMID:26818737|PMID:27734839|PMID:28492532|PMID:28976636|PMID:29345414|PMID:31077556|PMID:34838614
1306690	Slc45a2	solute carrier family 45, member 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pendular nystagmus	PMID:25741868|PMID:27734839|PMID:28492532|PMID:34838614
1306691	Armc6	armadillo repeat containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306691	Armc6	armadillo repeat containing 6	gene	DOID:1115	sarcoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306691	Armc6	armadillo repeat containing 6	gene	DOID:1909	melanoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306691	Armc6	armadillo repeat containing 6	gene	DOID:3275	thymoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306691	Armc6	armadillo repeat containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306691	Armc6	armadillo repeat containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1348624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306691	Armc6	armadillo repeat containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306691	Armc6	armadillo repeat containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1306692	Serpinf2	serpin family F member 2	gene	DOID:0060601	alpha-2-plasmin inhibitor deficiency		ISO	RGD:1315455	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306692	Serpinf2	serpin family F member 2	gene	DOID:0060601	alpha-2-plasmin inhibitor deficiency		ISO	RGD:1315455	D	RGD:7240710	20130221	OMIM			
1306692	Serpinf2	serpin family F member 2	gene	DOID:0060601	alpha-2-plasmin inhibitor deficiency		ISO	RGD:1315455	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALPHA-2-PLASMIN INHIBITOR DEFICIENCY | ClinVar Annotator: match by term: SERPINF2-related condition	PMID:25741868|PMID:28492532
1306692	Serpinf2	serpin family F member 2	gene	DOID:0060601	alpha-2-plasmin inhibitor deficiency		ISS	RGD:1315456	D	RGD:13592920	20230718	MouseDO		OMIM:262850	
1306692	Serpinf2	serpin family F member 2	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1315455	D	RGD:38500238|PMID:32747830	20200812	RGD		DNA:SNP: :	
1306692	Serpinf2	serpin family F member 2	gene	DOID:0080998	acute necrotizing pancreatitis		IDA		D	RGD:1625538|PMID:10423332	20070613	RGD		protein:increased expression:plasma	
1306692	Serpinf2	serpin family F member 2	gene	DOID:10591	pre-eclampsia		ISO	RGD:1315455	D	RGD:1625535|PMID:1334334	20070613	RGD		protein:increased expression:urine	
1306692	Serpinf2	serpin family F member 2	gene	DOID:10763	hypertension		ISO	RGD:1315455	D	RGD:1625531|PMID:9361364	20070613	RGD			
1306692	Serpinf2	serpin family F member 2	gene	DOID:1115	sarcoma		ISO	RGD:1315455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306692	Serpinf2	serpin family F member 2	gene	DOID:1168	familial hyperlipidemia		IEP		D	RGD:1625536|PMID:2313941	20070613	RGD			
1306692	Serpinf2	serpin family F member 2	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1315455	D	RGD:8554872	20211214	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:31064749
1306692	Serpinf2	serpin family F member 2	gene	DOID:3393	coronary artery disease		ISO	RGD:1315455	D	RGD:1625532|PMID:9184412	20070613	RGD			
1306692	Serpinf2	serpin family F member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306692	Serpinf2	serpin family F member 2	gene	DOID:418	systemic scleroderma		ISO	RGD:1315455	D	RGD:1625530|PMID:12595617	20070613	RGD		protein:increased expression:plasma	
1306692	Serpinf2	serpin family F member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306692	Serpinf2	serpin family F member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306692	Serpinf2	serpin family F member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306692	Serpinf2	serpin family F member 2	gene	DOID:9000528	Coronary Disease		ISO	RGD:1315455	D	RGD:1625529|PMID:15771120	20070613	RGD		protein:increased expression:blood	
1306692	Serpinf2	serpin family F member 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1315455	D	RGD:1625534|PMID:1384011	20070613	RGD		protein:decreased expression:serum	
1306692	Serpinf2	serpin family F member 2	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1315455	D	RGD:1625533|PMID:9207984	20070613	RGD		protein:increased expression:plasma	
1306692	Serpinf2	serpin family F member 2	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:1315455	D	RGD:1625537|PMID:6121140	20070613	RGD			
1306692	Serpinf2	serpin family F member 2	gene	DOID:9008217	Hemorrhage		ISO	RGD:1315455	D	RGD:1580303|PMID:10583218	19990101	RGD		DNA:missense mutation:cds:p.V384M (human)	
1306692	Serpinf2	serpin family F member 2	gene	DOID:9477	pulmonary embolism	severity	ISO	RGD:1315456	D	RGD:1580302|PMID:12911586	19990101	RGD			
1306693	Bach1	BACH transcriptional regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306693	Bach1	BACH transcriptional regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306693	Bach1	BACH transcriptional regulator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306693	Bach1	BACH transcriptional regulator 1	gene	DOID:3275	thymoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306693	Bach1	BACH transcriptional regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315457	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306693	Bach1	BACH transcriptional regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306693	Bach1	BACH transcriptional regulator 1	gene	DOID:9000784	Fibrosis		ISO	RGD:1315457	D	RGD:11554173	20250401	CTD		CTD Direct Evidence: therapeutic	PMID:38573338
1306693	Bach1	BACH transcriptional regulator 1	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:1315457	D	RGD:11554173	20250401	CTD		CTD Direct Evidence: therapeutic	PMID:38573338
1306693	Bach1	BACH transcriptional regulator 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306693	Bach1	BACH transcriptional regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306693	Bach1	BACH transcriptional regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1306693	Bach1	BACH transcriptional regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:10534	stomach cancer		ISO	RGD:1347801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:10907	microcephaly		ISO	RGD:1347801	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:1909	melanoma		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:4362	cervical cancer		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:5041	esophageal cancer		ISO	RGD:1347801	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:6039	uveal melanoma		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:9009128	PEHO-like syndrome		ISO	RGD:1347801	D	RGD:7240710	20240807	OMIM			
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:9009128	PEHO-like syndrome		ISO	RGD:1347801	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CCDC88A-related condition | ClinVar Annotator: match by term: PEHO-LIKE SYNDROME | ClinVar Annotator: match by term: PEHO-like syndrome | ClinVar Annotator: match by term: PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY-LIKE SYNDROME	PMID:25741868|PMID:26917597|PMID:28492532|PMID:30392057
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:9256	colorectal cancer		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306694	Ccdc88a	coiled-coil and HOOK domain protein 88A	gene	DOID:9834	hyperopia		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1306695	Pltp	phospholipid transfer protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
1306695	Pltp	phospholipid transfer protein	gene	DOID:10140	dry eye syndrome		ISS	RGD:1315461	D	RGD:13592920	20180518	MouseDO			
1306695	Pltp	phospholipid transfer protein	gene	DOID:1936	atherosclerosis		ISO	RGD:1315460	D	RGD:1581039|PMID:12835223	19990101	RGD		protein:increased expression:coronary artery (human)	
1306695	Pltp	phospholipid transfer protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306695	Pltp	phospholipid transfer protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306695	Pltp	phospholipid transfer protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306695	Pltp	phospholipid transfer protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306695	Pltp	phospholipid transfer protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306695	Pltp	phospholipid transfer protein	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1315460	D	RGD:1581038|PMID:14695459	19990101	RGD		protein:increased expression:serum (human)	
1306695	Pltp	phospholipid transfer protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315460	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306695	Pltp	phospholipid transfer protein	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1315460	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17952847
1306695	Pltp	phospholipid transfer protein	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1315460	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12754275
1306695	Pltp	phospholipid transfer protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306695	Pltp	phospholipid transfer protein	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1315460	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12754275
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:10534	stomach cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:1324	lung cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:1909	melanoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:3275	thymoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:4362	cervical cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:9002801	Recurrence		ISO	RGD:1315462	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1315462	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:905	Zellweger syndrome		ISO	RGD:1315462	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
1306696	Abcc10	ATP binding cassette subfamily C member 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306697	Wdr91	WD repeat domain 91	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306697	Wdr91	WD repeat domain 91	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306697	Wdr91	WD repeat domain 91	gene	DOID:10534	stomach cancer		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306697	Wdr91	WD repeat domain 91	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306697	Wdr91	WD repeat domain 91	gene	DOID:1115	sarcoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306697	Wdr91	WD repeat domain 91	gene	DOID:1909	melanoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306697	Wdr91	WD repeat domain 91	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306697	Wdr91	WD repeat domain 91	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306697	Wdr91	WD repeat domain 91	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306697	Wdr91	WD repeat domain 91	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306697	Wdr91	WD repeat domain 91	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306697	Wdr91	WD repeat domain 91	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306698	Mcat	malonyl-CoA-acyl carrier protein transacylase	gene	DOID:10534	stomach cancer		ISO	RGD:1607045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306698	Mcat	malonyl-CoA-acyl carrier protein transacylase	gene	DOID:1324	lung cancer		ISO	RGD:1607045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306698	Mcat	malonyl-CoA-acyl carrier protein transacylase	gene	DOID:8501	fundus dystrophy		ISO	RGD:1607045	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1306698	Mcat	malonyl-CoA-acyl carrier protein transacylase	gene	DOID:9006410	Optic Atrophy 15		ISO	RGD:1607045	D	RGD:7240710	20231206	OMIM			
1306698	Mcat	malonyl-CoA-acyl carrier protein transacylase	gene	DOID:9006410	Optic Atrophy 15		ISO	RGD:1607045	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MCAT-related condition | ClinVar Annotator: match by term: OPTIC ATROPHY 15	PMID:25741868
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:0050605	acrodermatitis enteropathica		ISO	RGD:1315470	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12068297|PMID:14709598|PMID:15358787|PMID:17483098
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:0050605	acrodermatitis enteropathica		ISO	RGD:1315470	D	RGD:1599005|PMID:12068297	20070111	RGD		DNA:deletions, snp, missense mutations:multiple (human)	
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:0050605	acrodermatitis enteropathica		ISO	RGD:1315470	D	RGD:7240710	20130221	OMIM			
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:0050605	acrodermatitis enteropathica		ISO	RGD:1315470	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACRODERMATITIS ENTEROPATHICA | ClinVar Annotator: match by term: Acrodermatitis enteropathica | ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition	PMID:12032886|PMID:12068297|PMID:12787121|PMID:12955721|PMID:14709598|PMID:16199547|PMID:16819703|PMID:19370757|PMID:19416242|PMID:20981092|PMID:21165302|PMID:21762381|PMID:24033266|PMID:25741868|PMID:26351177|PMID:27321477|PMID:28188634|PMID:28492532|PMID:28604961|PMID:28717982|PMID:30174688|PMID:31130284|PMID:31979155|PMID:32442281|PMID:33837739|PMID:34625996|PMID:36479285|PMID:38831989
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:0050605	acrodermatitis enteropathica		ISS	RGD:1552511	D	RGD:13592920	20230718	MouseDO		OMIM:201100	
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:0060496	respiratory allergy		ISO	RGD:1315470	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085522
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:2722	acrodermatitis		ISO	RGD:1315470	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16714095|PMID:16819703|PMID:16889938|PMID:17190629|PMID:17202136
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:630	genetic disease		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1315470	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20957146
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:9007023	Prenatal Injuries		ISO	RGD:1315470	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17483098
1306701	Slc39a4	solute carrier family 39 member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306702	Tmem184a	transmembrane protein 184A	gene	DOID:10534	stomach cancer		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306702	Tmem184a	transmembrane protein 184A	gene	DOID:3275	thymoma		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306702	Tmem184a	transmembrane protein 184A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306702	Tmem184a	transmembrane protein 184A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306702	Tmem184a	transmembrane protein 184A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306702	Tmem184a	transmembrane protein 184A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603256	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306702	Tmem184a	transmembrane protein 184A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306702	Tmem184a	transmembrane protein 184A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306702	Tmem184a	transmembrane protein 184A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306703	Mblac2	metallo-beta-lactamase domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1601715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306703	Mblac2	metallo-beta-lactamase domain containing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1306705	Tmem237	transmembrane protein 237	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1315474	D	RGD:11561921|PMID:22152675	20161111	RGD		DNA:nonsense,transition mutations:cds,splice junction:	
1306705	Tmem237	transmembrane protein 237	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1315474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:24033266|PMID:25741868
1306705	Tmem237	transmembrane protein 237	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1315474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:25741868
1306705	Tmem237	transmembrane protein 237	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1306705	Tmem237	transmembrane protein 237	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1315474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 1	PMID:25741868|PMID:28492532
1306705	Tmem237	transmembrane protein 237	gene	DOID:0110983	Joubert syndrome 14		ISO	RGD:1315474	D	RGD:7240710	20140911	OMIM			
1306705	Tmem237	transmembrane protein 237	gene	DOID:0110983	Joubert syndrome 14		ISO	RGD:1315474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 14 | ClinVar Annotator: match by term: Joubert syndrome 14 | ClinVar Annotator: match by term: TMEM237-related condition	PMID:16199547|PMID:17576681|PMID:22152675|PMID:22693042|PMID:23351400|PMID:25741868|PMID:26092869|PMID:26673778|PMID:27894351|PMID:28492532|PMID:28600779|PMID:34839509|PMID:9536098
1306705	Tmem237	transmembrane protein 237	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306705	Tmem237	transmembrane protein 237	gene	DOID:1324	lung cancer		ISO	RGD:1315474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1306705	Tmem237	transmembrane protein 237	gene	DOID:1909	melanoma		ISO	RGD:1315474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306705	Tmem237	transmembrane protein 237	gene	DOID:3275	thymoma		ISO	RGD:1315474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306705	Tmem237	transmembrane protein 237	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306705	Tmem237	transmembrane protein 237	gene	DOID:5041	esophageal cancer		ISO	RGD:1315474	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306705	Tmem237	transmembrane protein 237	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1306705	Tmem237	transmembrane protein 237	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1306705	Tmem237	transmembrane protein 237	gene	DOID:630	genetic disease		ISO	RGD:1315474	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306705	Tmem237	transmembrane protein 237	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1306705	Tmem237	transmembrane protein 237	gene	DOID:8501	fundus dystrophy		ISO	RGD:1315474	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1306705	Tmem237	transmembrane protein 237	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306706	Rttn	rotatin	gene	DOID:0050453	lissencephaly		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:25741868|PMID:28492532|PMID:29883675
1306706	Rttn	rotatin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306706	Rttn	rotatin	gene	DOID:0070297	primary microcephaly		ISO	RGD:1315475	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:26608784
1306706	Rttn	rotatin	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868|PMID:28492532
1306706	Rttn	rotatin	gene	DOID:10534	stomach cancer		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1306706	Rttn	rotatin	gene	DOID:1059	intellectual disability		ISO	RGD:1315475	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868
1306706	Rttn	rotatin	gene	DOID:1059	intellectual disability		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1306706	Rttn	rotatin	gene	DOID:10907	microcephaly		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22939636|PMID:25741868|PMID:28492532|PMID:29883675
1306706	Rttn	rotatin	gene	DOID:1115	sarcoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306706	Rttn	rotatin	gene	DOID:12449	aplastic anemia		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	PMID:22939636|PMID:25741868
1306706	Rttn	rotatin	gene	DOID:12849	autistic disorder		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
1306706	Rttn	rotatin	gene	DOID:1324	lung cancer		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306706	Rttn	rotatin	gene	DOID:1826	epilepsy		ISO	RGD:1315475	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
1306706	Rttn	rotatin	gene	DOID:1826	epilepsy		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1306706	Rttn	rotatin	gene	DOID:1909	melanoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306706	Rttn	rotatin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306706	Rttn	rotatin	gene	DOID:3275	thymoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306706	Rttn	rotatin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306706	Rttn	rotatin	gene	DOID:4362	cervical cancer		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306706	Rttn	rotatin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306706	Rttn	rotatin	gene	DOID:5041	esophageal cancer		ISO	RGD:1315475	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1306706	Rttn	rotatin	gene	DOID:543	dystonia		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532
1306706	Rttn	rotatin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306706	Rttn	rotatin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306706	Rttn	rotatin	gene	DOID:630	genetic disease		ISO	RGD:1315475	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22939636|PMID:25741868|PMID:28492532|PMID:38178912
1306706	Rttn	rotatin	gene	DOID:9003865	Microcephaly, Short Stature, and Polymicrogyria with or without Seizures		ISO	RGD:1315475	D	RGD:7240710	20140911	OMIM			
1306706	Rttn	rotatin	gene	DOID:9003865	Microcephaly, Short Stature, and Polymicrogyria with or without Seizures		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with seizures | ClinVar Annotator: match by term: RTTN-related condition	PMID:16199547|PMID:17576681|PMID:22939636|PMID:25741868|PMID:26608784|PMID:26846091|PMID:28492532|PMID:29883675|PMID:9536098
1306706	Rttn	rotatin	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315475	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1306706	Rttn	rotatin	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1306706	Rttn	rotatin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
1306706	Rttn	rotatin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1306706	Rttn	rotatin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1315476	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18243799
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:0090048	dystonia 16		ISO	RGD:1315476	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:25554729
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:0090048	dystonia 16		ISO	RGD:1315476	D	RGD:7240710	20160203	OMIM			
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:0090048	dystonia 16		ISO	RGD:1315476	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSTONIA 16 | ClinVar Annotator: match by term: Dystonia 16	PMID:24033266|PMID:25737287|PMID:25741868|PMID:28492532
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:10534	stomach cancer		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:1059	intellectual disability		ISO	RGD:1315476	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:1115	sarcoma		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:1324	lung cancer		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:4362	cervical cancer		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315476	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:543	dystonia		ISO	RGD:1315476	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:543	dystonia		ISO	RGD:1315476	D	RGD:11554173	20190416	CTD		CTD Direct Evidence: marker/mechanism	PMID:18243799
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:6039	uveal melanoma		ISO	RGD:1315476	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:630	genetic disease		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1315476	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:25554729
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9002500	Hearing Disorders		ISO	RGD:1315476	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:25554729
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:7777145|PMID:21897745	20140103	RGD			
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9005941	Rhinosinusitis	severity	ISO	RGD:1315476	D	RGD:7777146|PMID:22961479	20140103	RGD		associated with Nasal Polyps	
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1315476	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22194846
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306707	Prkra	protein activator of interferon induced protein kinase EIF2AK2	gene	DOID:9256	colorectal cancer		ISO	RGD:1315476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1306708	Traf4	Tnf receptor associated factor 4	gene	DOID:1909	melanoma		ISO	RGD:1315478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306708	Traf4	Tnf receptor associated factor 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1315478	D	RGD:151665107|PMID:29254206	20220310	RGD		mRNA:increased expression:lung (human)	
1306708	Traf4	Tnf receptor associated factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306708	Traf4	Tnf receptor associated factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306708	Traf4	Tnf receptor associated factor 4	gene	DOID:9000998	Brain Injuries		ISO	RGD:1315478	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
1306708	Traf4	Tnf receptor associated factor 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306709	Mrpl53	mitochondrial ribosomal protein L53	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306709	Mrpl53	mitochondrial ribosomal protein L53	gene	DOID:10534	stomach cancer		ISO	RGD:1315480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306710	Pitpnm1	phosphatidylinositol transfer protein, membrane-associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306710	Pitpnm1	phosphatidylinositol transfer protein, membrane-associated 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306710	Pitpnm1	phosphatidylinositol transfer protein, membrane-associated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306710	Pitpnm1	phosphatidylinositol transfer protein, membrane-associated 1	gene	DOID:1115	sarcoma		ISO	RGD:1315482	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306710	Pitpnm1	phosphatidylinositol transfer protein, membrane-associated 1	gene	DOID:1324	lung cancer		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306710	Pitpnm1	phosphatidylinositol transfer protein, membrane-associated 1	gene	DOID:1909	melanoma		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306710	Pitpnm1	phosphatidylinositol transfer protein, membrane-associated 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306710	Pitpnm1	phosphatidylinositol transfer protein, membrane-associated 1	gene	DOID:5419	schizophrenia		ISO	RGD:1315482	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1306710	Pitpnm1	phosphatidylinositol transfer protein, membrane-associated 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306710	Pitpnm1	phosphatidylinositol transfer protein, membrane-associated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306710	Pitpnm1	phosphatidylinositol transfer protein, membrane-associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306710	Pitpnm1	phosphatidylinositol transfer protein, membrane-associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306710	Pitpnm1	phosphatidylinositol transfer protein, membrane-associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306711	Gpa33	glycoprotein A33	gene	DOID:1115	sarcoma		ISO	RGD:1315484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306711	Gpa33	glycoprotein A33	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306711	Gpa33	glycoprotein A33	gene	DOID:9007432	Latent Tuberculosis		ISO	RGD:1315484	D	RGD:9068941	20210212	RGD		mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human)	PMID:29602771|REF_RGD_ID:41404732
1306711	Gpa33	glycoprotein A33	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315484	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306712	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306712	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:10534	stomach cancer		ISO	RGD:1315485	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306712	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:1115	sarcoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306712	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:1909	melanoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306712	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306712	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:4362	cervical cancer		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306712	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306712	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:5041	esophageal cancer		ISO	RGD:1315485	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306712	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306712	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306712	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306712	Atp8b4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:10534	stomach cancer		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:1115	sarcoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1315487	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:1324	lung cancer		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:1909	melanoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:3275	thymoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:3393	coronary artery disease		ISO	RGD:1315487	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1315487	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:9000528	Coronary Disease		ISO	RGD:1315487	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Three Vessel Coronary Disease	PMID:25741868
1306713	Adamts7	ADAM metallopeptidase with thrombospondin type 1 motif, 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306714	Wdr62	WD repeat domain 62	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1306714	Wdr62	WD repeat domain 62	gene	DOID:0070285	primary autosomal recessive microcephaly 1		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive	PMID:25741868
1306714	Wdr62	WD repeat domain 62	gene	DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations		ISO	RGD:1315489	D	RGD:11537472|PMID:21496009	20161005	RGD		DNA:insertion,nonsense mutations:exons:c.535_536insA,c.900C>A(p.C300X)(human)	
1306714	Wdr62	WD repeat domain 62	gene	DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations		ISO	RGD:1315489	D	RGD:11537473|PMID:26577670	20161005	RGD		DNA:mutation:cds:c.390G > A(human)	
1306714	Wdr62	WD repeat domain 62	gene	DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations		ISO	RGD:1315489	D	RGD:11537475|PMID:21961505	20161005	RGD		DNA:nonsense, insertion, missense mutations:cds:c.1942 C>T,c.3936_3937insC, c.1313G>A,c.1531G>A(human)	
1306714	Wdr62	WD repeat domain 62	gene	DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations		ISO	RGD:1315489	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1306714	Wdr62	WD repeat domain 62	gene	DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations		ISO	RGD:1315489	D	RGD:7240710	20141015	OMIM			
1306714	Wdr62	WD repeat domain 62	gene	DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations		ISO	RGD:1315489	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 | ClinVar Annotator: match by term: WDR62-related condition	PMID:10573015|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20729831|PMID:20890278|PMID:20890279|PMID:21834044|PMID:21961505|PMID:22775483|PMID:23065275|PMID:24228726|PMID:25303973|PMID:25741868|PMID:26077850|PMID:26467025|PMID:28004384|PMID:28377545|PMID:28492532|PMID:28756000|PMID:31130284|PMID:31589614|PMID:33502066|PMID:33589534|PMID:33604570|PMID:3440221|PMID:34402213|PMID:9536098
1306714	Wdr62	WD repeat domain 62	gene	DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations		ISO	RGD:1315489	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: WDR62-related condition	PMID:10573015|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20729831|PMID:20890278|PMID:20890279|PMID:21834044|PMID:21961505|PMID:219661505|PMID:22775483|PMID:23065275|PMID:23341463|PMID:24228726|PMID:25010007|PMID:25303973|PMID:25501809|PMID:25741868|PMID:26467025|PMID:26713495|PMID:27093186|PMID:28004384|PMID:28492532|PMID:28756000|PMID:31130284|PMID:31589614|PMID:32404165|PMID:33502066|PMID:33589534|PMID:33604570|PMID:3440221|PMID:34402213|PMID:38539105|PMID:9536098
1306714	Wdr62	WD repeat domain 62	gene	DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations		ISO	RGD:1315489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS | ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Primary microcephaly type 2 | ClinVar Annotator: match by term: WDR62-related condition	PMID:10573015|PMID:17576681|PMID:18414213|PMID:20890278|PMID:20890279|PMID:21961505|PMID:219661505|PMID:22775483|PMID:23065275|PMID:23341463|PMID:24228726|PMID:25501809|PMID:25741868|PMID:26467025|PMID:26577670|PMID:26713495|PMID:28004384|PMID:28492532|PMID:30192042|PMID:31696992|PMID:32404165|PMID:3440221|PMID:34402213|PMID:35726608|PMID:9536098
1306714	Wdr62	WD repeat domain 62	gene	DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations		ISS	RGD:1553526	D	RGD:13592920	20230718	MouseDO		OMIM:604317	
1306714	Wdr62	WD repeat domain 62	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1315489	D	RGD:11541051|PMID:25303973	20161006	RGD		DNA:duplication:cds: c.2527dupG (p.D843GfsX3)(human)	
1306714	Wdr62	WD repeat domain 62	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1315489	D	RGD:11541056|PMID:22308068	20161006	RGD		DNA:missense mutation:cds:c.1198G> A(p.E400K)(human)	
1306714	Wdr62	WD repeat domain 62	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1315489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive primary microcephaly	PMID:25741868
1306714	Wdr62	WD repeat domain 62	gene	DOID:0080918	polymicrogyria		ISO	RGD:1315489	D	RGD:11541050|PMID:21834044	20161006	RGD		DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human)	
1306714	Wdr62	WD repeat domain 62	gene	DOID:0080918	polymicrogyria		ISO	RGD:1315489	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:28492532|PMID:32404165
1306714	Wdr62	WD repeat domain 62	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1315489	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:23341463
1306714	Wdr62	WD repeat domain 62	gene	DOID:10534	stomach cancer		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
1306714	Wdr62	WD repeat domain 62	gene	DOID:1059	intellectual disability		ISO	RGD:1315489	D	RGD:11541059|PMID:24479948	20161006	RGD		DNA:insertion:cds:c.1821dupT(p.R608Sfs*26)(human)	
1306714	Wdr62	WD repeat domain 62	gene	DOID:1059	intellectual disability		ISO	RGD:1315489	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1306714	Wdr62	WD repeat domain 62	gene	DOID:1059	intellectual disability		ISO	RGD:1315489	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17576681|PMID:18414213|PMID:25741868|PMID:27784895|PMID:28492532|PMID:30167849|PMID:9536098
1306714	Wdr62	WD repeat domain 62	gene	DOID:1059	intellectual disability		ISO	RGD:1315489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual disability	PMID:17576681|PMID:25741868|PMID:27784895|PMID:28492532|PMID:30167849|PMID:32404165|PMID:9536098
1306714	Wdr62	WD repeat domain 62	gene	DOID:10907	microcephaly		ISO	RGD:1315489	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:20890278|PMID:20890279
1306714	Wdr62	WD repeat domain 62	gene	DOID:10907	microcephaly		ISO	RGD:1315489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16199547|PMID:20729831|PMID:25741868|PMID:28492532|PMID:32404165
1306714	Wdr62	WD repeat domain 62	gene	DOID:10907	microcephaly		ISO	RGD:1553526	D	RGD:11541053|PMID:24875059	20161006	RGD			
1306714	Wdr62	WD repeat domain 62	gene	DOID:1115	sarcoma		ISO	RGD:1315489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306714	Wdr62	WD repeat domain 62	gene	DOID:1324	lung cancer		ISO	RGD:1315489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306714	Wdr62	WD repeat domain 62	gene	DOID:1826	epilepsy		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1306714	Wdr62	WD repeat domain 62	gene	DOID:1909	melanoma		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306714	Wdr62	WD repeat domain 62	gene	DOID:2234	focal epilepsy		ISO	RGD:1315489	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532|PMID:32404165
1306714	Wdr62	WD repeat domain 62	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306714	Wdr62	WD repeat domain 62	gene	DOID:4362	cervical cancer		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306714	Wdr62	WD repeat domain 62	gene	DOID:5041	esophageal cancer		ISO	RGD:1315489	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306714	Wdr62	WD repeat domain 62	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306714	Wdr62	WD repeat domain 62	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306714	Wdr62	WD repeat domain 62	gene	DOID:630	genetic disease		ISO	RGD:1315489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306714	Wdr62	WD repeat domain 62	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315489	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1306714	Wdr62	WD repeat domain 62	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1315489	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1306714	Wdr62	WD repeat domain 62	gene	DOID:9006821	Skraban-Deardorff Syndrome		ISO	RGD:1315489	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Skraban-Deardorff syndrome	PMID:25741868
1306714	Wdr62	WD repeat domain 62	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306714	Wdr62	WD repeat domain 62	gene	DOID:9007661	Dwarfism		ISO	RGD:1553526	D	RGD:11541053|PMID:24875059	20161006	RGD			
1306714	Wdr62	WD repeat domain 62	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18414213|PMID:25741868|PMID:28492532|PMID:31589614|PMID:33502066|PMID:33589534|PMID:33604570
1306714	Wdr62	WD repeat domain 62	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
1306714	Wdr62	WD repeat domain 62	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306715	Rev1	REV1, DNA directed polymerase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306715	Rev1	REV1, DNA directed polymerase	gene	DOID:10534	stomach cancer		ISO	RGD:1315491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306715	Rev1	REV1, DNA directed polymerase	gene	DOID:1115	sarcoma		ISO	RGD:1315491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306715	Rev1	REV1, DNA directed polymerase	gene	DOID:1324	lung cancer		ISO	RGD:1315491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306715	Rev1	REV1, DNA directed polymerase	gene	DOID:2394	ovarian cancer		ISO	RGD:1315491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306715	Rev1	REV1, DNA directed polymerase	gene	DOID:3275	thymoma		ISO	RGD:1315491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306715	Rev1	REV1, DNA directed polymerase	gene	DOID:4362	cervical cancer		ISO	RGD:1315491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306715	Rev1	REV1, DNA directed polymerase	gene	DOID:5041	esophageal cancer		ISO	RGD:1315491	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306715	Rev1	REV1, DNA directed polymerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306715	Rev1	REV1, DNA directed polymerase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306715	Rev1	REV1, DNA directed polymerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306715	Rev1	REV1, DNA directed polymerase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306716	C1qa	complement C1q A chain	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1315493	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
1306716	C1qa	complement C1q A chain	gene	DOID:0050486	exanthem		ISO	RGD:1315493	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8840296
1306716	C1qa	complement C1q A chain	gene	DOID:0080600	COVID-19		ISO	RGD:1315493	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306716	C1qa	complement C1q A chain	gene	DOID:11758	iron deficiency anemia		IEP		D	RGD:2301196|PMID:18723004	20150804	RGD		mRNA:increased expression:hippocampus:	
1306716	C1qa	complement C1q A chain	gene	DOID:1557	hypersensitivity reaction type III disease		ISO	RGD:1315493	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8840296
1306716	C1qa	complement C1q A chain	gene	DOID:1826	epilepsy		ISS	RGD:1315494	D	RGD:13592920	20180518	MouseDO			
1306716	C1qa	complement C1q A chain	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1315493	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1306716	C1qa	complement C1q A chain	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:1315493	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8840296
1306716	C1qa	complement C1q A chain	gene	DOID:2921	glomerulonephritis	susceptibility	ISO	RGD:1315493	D	RGD:1600549|PMID:8840296	20070313	RGD		DNA:nonsense mutation (human)	
1306716	C1qa	complement C1q A chain	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1315493	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8840296|PMID:25133636
1306716	C1qa	complement C1q A chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306716	C1qa	complement C1q A chain	gene	DOID:630	genetic disease		ISO	RGD:1315493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306716	C1qa	complement C1q A chain	gene	DOID:9000998	Brain Injuries		IEP		D	RGD:10054313|PMID:23808389	20150804	RGD			
1306716	C1qa	complement C1q A chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315493	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306716	C1qa	complement C1q A chain	gene	DOID:9005556	C1q Deficiency 1		ISO	RGD:1315493	D	RGD:7240710	20230505	OMIM			
1306716	C1qa	complement C1q A chain	gene	DOID:9005556	C1q Deficiency 1		ISO	RGD:1315493	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: C1Q deficiency 1 | ClinVar Annotator: match by term: C1QA-related condition	PMID:25741868|PMID:28492532
1306716	C1qa	complement C1q A chain	gene	DOID:9007516	C1q Deficiency		ISO	RGD:1315493	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: C1Q deficiency | ClinVar Annotator: match by term: C1q DEFICIENCY	PMID:21654842|PMID:22472776|PMID:25741868|PMID:26563161|PMID:28492532|PMID:29739689|PMID:30008451|PMID:7594474|PMID:8840296|PMID:9225968|PMID:9590289
1306716	C1qa	complement C1q A chain	gene	DOID:9007806	Drug Hypersensitivity Syndrome		ISO	RGD:1315493	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
1306716	C1qa	complement C1q A chain	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1315493	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8840296
1306716	C1qa	complement C1q A chain	gene	DOID:9074	systemic lupus erythematosus		ISS	RGD:1315494	D	RGD:13592920	20230718	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:1115	sarcoma		ISO	RGD:1605376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:1909	melanoma		ISO	RGD:1605376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:3275	thymoma		ISO	RGD:1605376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:4362	cervical cancer		ISO	RGD:1605376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:6039	uveal melanoma		ISO	RGD:1605376	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306717	Nat10	N-acetyltransferase 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306718	Adgrf2	adhesion G protein-coupled receptor F2	gene	DOID:12849	autistic disorder		ISO	RGD:1343922	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1306719	Nudt7	nudix hydrolase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306719	Nudt7	nudix hydrolase 7	gene	DOID:1909	melanoma		ISO	RGD:1350832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306719	Nudt7	nudix hydrolase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1350832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306719	Nudt7	nudix hydrolase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306719	Nudt7	nudix hydrolase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306719	Nudt7	nudix hydrolase 7	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1350832	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030
1306719	Nudt7	nudix hydrolase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306720	Mrps35	mitochondrial ribosomal protein S35	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306720	Mrps35	mitochondrial ribosomal protein S35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306720	Mrps35	mitochondrial ribosomal protein S35	gene	DOID:1115	sarcoma		ISO	RGD:1315499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306720	Mrps35	mitochondrial ribosomal protein S35	gene	DOID:1324	lung cancer		ISO	RGD:1315499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306720	Mrps35	mitochondrial ribosomal protein S35	gene	DOID:1909	melanoma		ISO	RGD:1315499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306720	Mrps35	mitochondrial ribosomal protein S35	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306720	Mrps35	mitochondrial ribosomal protein S35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306720	Mrps35	mitochondrial ribosomal protein S35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1345647	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25848748
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:0050671	female breast cancer	susceptibility	ISO	RGD:1345647	D	RGD:152995259|PMID:30303537	20220609	RGD		DNA:missense mutation:cds: (human)	
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:0070022	autosomal recessive dyskeratosis congenita 5		ISO	RGD:1345647	D	RGD:7240710	20140911	OMIM			
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:0070022	autosomal recessive dyskeratosis congenita 5		ISO	RGD:1345647	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5	PMID:16199547|PMID:19461895|PMID:23453664|PMID:23959892|PMID:25607374|PMID:25640679|PMID:27418648|PMID:28492532
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:1345647	D	RGD:152995257|PMID:31762827	20220609	RGD		DNA:SNP:cds:rs2297441|rs3208008 (human)	
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:10325	silicosis		IEP		D	RGD:152977761|PMID:29230030	20220606	RGD		mRNA:decreased expression:lung (rat)	
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1345647	D	RGD:152993553|PMID:27765928	20220609	RGD		DNA:SNP:cds:rs2738789 (human)	
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1345647	D	RGD:152993553|PMID:27765928	20220609	RGD		DNA:SNP:cds:rs7261546|rs6062299|rs3787098 (human)	
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1345647	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:1909	melanoma		ISO	RGD:1345647	D	RGD:152995261|PMID:25231748	20220610	RGD		DNA:SNP:cds:rs75691080 (human)	
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1345647	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578366|PMID:19578367
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:3079	childhood astrocytic tumor	ameliorates	ISO	RGD:1345647	D	RGD:152985535|PMID:26014354	20220607	RGD		DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human)	
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:3079	childhood astrocytic tumor	susceptibility	ISO	RGD:1345647	D	RGD:152985535|PMID:26014354	20220607	RGD		DNA:SNP:cds:rs4809324 (human)	
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:3083	chronic obstructive pulmonary disease	ameliorates	ISO	RGD:1345647	D	RGD:152985694|PMID:28360516	20220608	RGD		DNA:SNP:cds:rs4809324 (human)	
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:3717	gastric adenocarcinoma	susceptibility	ISO	RGD:1345647	D	RGD:152995256|PMID:27366209	20220609	RGD		DNA:amplification:cds: (human)	
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:5076	mixed glioma	susceptibility	ISO	RGD:1345647	D	RGD:152977767|PMID:30462709	20220606	RGD		DNA:SNPs:multiple:multiple (human)	
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:9000528	Coronary Disease	ameliorates	ISO	RGD:1345647	D	RGD:152985693|PMID:30623606	20220608	RGD		DNA:SNP:cds:rs6010620|rs4809324 (human)	
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:9001272	Hoyeraal-Hreidarsson Syndrome		ISO	RGD:1345647	D	RGD:152977765|PMID:23959892	20220606	RGD		DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human)	
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1345647	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28604730
1306721	Rtel1	regulator of telomere elongation helicase 1	gene	DOID:9008668	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3		ISO	RGD:1345647	D	RGD:7240710	20150624	OMIM			
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:0050730	coenzyme Q10 deficiency disease		ISO	RGD:1603662	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary	PMID:16400613|PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:25349199|PMID:25525159|PMID:25741868|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827|PMID:33305107|PMID:35483523|PMID:36266294
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:0070238	primary coenzyme Q10 deficiency 1		ISO	RGD:1603662	D	RGD:7240710	20260805	OMIM			
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:0070238	primary coenzyme Q10 deficiency 1		ISO	RGD:1603662	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COENZYME Q10 DEFICIENCY, PRIMARY, 1 | ClinVar Annotator: match by term: CoQ DEFICIENCY 1 | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 | ClinVar Annotator: match by term: UBIQUINONE DEFICIENCY 1	PMID:12682339|PMID:16199547|PMID:16400613|PMID:17332895|PMID:17374725|PMID:17576681|PMID:17855635|PMID:20495179|PMID:20689595|PMID:23343605|PMID:23349334|PMID:23758206|PMID:23774949|PMID:24988567|PMID:25349199|PMID:25525159|PMID:25741868|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30180404|PMID:30295827|PMID:30337132|PMID:30613928|PMID:31683770|PMID:32604935|PMID:32746448|PMID:33305107|PMID:35483523|PMID:36266294|PMID:39805995|PMID:9536098
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1603662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:25741868|PMID:28492532
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:10603	glucose intolerance		IEP		D	RGD:10755343|PMID:26296322	20160907	RGD		associated with obesity	
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1603662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:25349199|PMID:25741868|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827|PMID:33305107|PMID:35483523|PMID:36266294
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1603662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:25741868|PMID:28492532
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:2355	anemia		ISO	RGD:1603662	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: anemia	PMID:25741868
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:3070	high grade glioma		ISO	RGD:1603662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1603662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:4752	multiple system atrophy		ISO	RGD:1603662	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:4752	multiple system atrophy		ISO	RGD:1603662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple system atrophy	PMID:25741868
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1603662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:25349199|PMID:25741868|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827|PMID:32746448|PMID:33305107|PMID:35483523|PMID:36266294
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1603662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:9007501	Multiple System Atrophy (MSA) with Orthostatic Hypotension		ISO	RGD:1603662	D	RGD:7240710	20260805	OMIM			
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:9007501	Multiple System Atrophy (MSA) with Orthostatic Hypotension		ISO	RGD:1603662	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COQ2-related condition | ClinVar Annotator: match by term: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Multiple system atrophy 1, susceptibility to	PMID:17576681|PMID:17855635|PMID:20495179|PMID:23758206|PMID:25525159|PMID:25741868|PMID:27493029|PMID:28492532|PMID:29637272|PMID:30180404|PMID:31328266|PMID:32604935|PMID:32746448|PMID:33397173|PMID:34084467|PMID:35483523|PMID:38838054|PMID:39805995|PMID:9536098
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:9007692	Insulin Resistance		IEP		D	RGD:10755343|PMID:26296322	20160907	RGD		associated with obesity	
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306722	Coq2	coenzyme Q2, polyprenyltransferase	gene	DOID:936	brain disease		ISO	RGD:1603662	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:16400613|PMID:17374725|PMID:25741868|PMID:28492532
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1315504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1315504	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability	
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:0070309	absence epilepsy		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1315504	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28166811|PMID:28492532|PMID:29358611|PMID:9536098
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1315504	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:9536098
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5	PMID:24088041|PMID:26633545|PMID:28492532
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1315504	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:4428	dyslexia		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:25741868
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1315504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:9000495	Tremor		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus epilepsy	PMID:25741868|PMID:26467025|PMID:28492532
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1315504	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:1315504	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:9536098
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:1315504	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:31069529|PMID:9536098
1306723	Prickle2	prickle planar cell polarity protein 2	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31069529|PMID:32970752|PMID:9536098
1306725	Ahsp	alpha hemoglobin stabilizing protein	gene	DOID:13133	HELLP syndrome		ISO	RGD:1315507	D	RGD:329956422|PMID:18347943	20230719	RGD		mRNA:decreased expression:placenta (human)	
1306725	Ahsp	alpha hemoglobin stabilizing protein	gene	DOID:3526	cerebral infarction		ISO	RGD:1315507	D	RGD:329961296|PMID:29284304	20230720	RGD		mRNA:increased expression:venous blood (human)	
1306725	Ahsp	alpha hemoglobin stabilizing protein	gene	DOID:4247	coronary restenosis		ISO	RGD:1315507	D	RGD:329961301|PMID:35144391	20230720	RGD		mRNA:decreased expression:blood (human)	
1306725	Ahsp	alpha hemoglobin stabilizing protein	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1315507	D	RGD:329961295|PMID:35710932	20230720	RGD		mRNA:altered expression: (human)	
1306725	Ahsp	alpha hemoglobin stabilizing protein	gene	DOID:9001916	Fetal Death		ISO	RGD:1315507	D	RGD:329956422|PMID:18347943	20230719	RGD		mRNA, protein:decreased expression:placenta (human)	
1306726	Six4	SIX homeobox 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306726	Six4	SIX homeobox 4	gene	DOID:10534	stomach cancer		ISO	RGD:1315508	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306726	Six4	SIX homeobox 4	gene	DOID:1324	lung cancer		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306726	Six4	SIX homeobox 4	gene	DOID:1909	melanoma		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306726	Six4	SIX homeobox 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306726	Six4	SIX homeobox 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1315508	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306726	Six4	SIX homeobox 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306726	Six4	SIX homeobox 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306726	Six4	SIX homeobox 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306726	Six4	SIX homeobox 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306726	Six4	SIX homeobox 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306727	B3galt5	Beta-1,3-galactosyltransferase 5	gene	DOID:1793	pancreatic cancer		ISO	RGD:1315510	D	RGD:2317558|PMID:14555842	20100409	RGD		mRNA:increased expression:pancreas	
1306727	B3galt5	Beta-1,3-galactosyltransferase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306727	B3galt5	Beta-1,3-galactosyltransferase 5	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1315510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306727	B3galt5	Beta-1,3-galactosyltransferase 5	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1315510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306728	Tom1l2	target of myb1 like 2 membrane trafficking protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306728	Tom1l2	target of myb1 like 2 membrane trafficking protein	gene	DOID:1115	sarcoma		ISO	RGD:1315512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306728	Tom1l2	target of myb1 like 2 membrane trafficking protein	gene	DOID:1324	lung cancer		ISO	RGD:1315512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306728	Tom1l2	target of myb1 like 2 membrane trafficking protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306728	Tom1l2	target of myb1 like 2 membrane trafficking protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306728	Tom1l2	target of myb1 like 2 membrane trafficking protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306728	Tom1l2	target of myb1 like 2 membrane trafficking protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306729	Bicdl2	BICD family like cargo adaptor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1626601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306729	Bicdl2	BICD family like cargo adaptor 2	gene	DOID:1324	lung cancer		ISO	RGD:1626601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306729	Bicdl2	BICD family like cargo adaptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1626601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306729	Bicdl2	BICD family like cargo adaptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1626601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306729	Bicdl2	BICD family like cargo adaptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1626601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306730	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306730	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306730	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306730	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306730	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:1909	melanoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306730	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306730	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306730	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1315515	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306730	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306730	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306730	Mcmbp	minichromosome maintenance complex binding protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306731	Nrap	nebulin-related anchoring protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306731	Nrap	nebulin-related anchoring protein	gene	DOID:0112082	nuclear type mitochondrial complex I deficiency 4		ISO	RGD:1315517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 4	PMID:25741868
1306731	Nrap	nebulin-related anchoring protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306731	Nrap	nebulin-related anchoring protein	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315517	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:33534821
1306731	Nrap	nebulin-related anchoring protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306731	Nrap	nebulin-related anchoring protein	gene	DOID:3275	thymoma		ISO	RGD:1315517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306731	Nrap	nebulin-related anchoring protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306731	Nrap	nebulin-related anchoring protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1315517	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306731	Nrap	nebulin-related anchoring protein	gene	DOID:630	genetic disease		ISO	RGD:1315517	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1306731	Nrap	nebulin-related anchoring protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1306731	Nrap	nebulin-related anchoring protein	gene	DOID:9007820	Sudden Death		ISO	RGD:1315517	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	
1306731	Nrap	nebulin-related anchoring protein	gene	DOID:9009440	dilated cardiomyopathy 2N		ISO	RGD:1315517	D	RGD:7240710	20260812	OMIM			
1306731	Nrap	nebulin-related anchoring protein	gene	DOID:9009440	dilated cardiomyopathy 2N		ISO	RGD:1315517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 2N	
1306732	Sigirr	single Ig and TIR domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306732	Sigirr	single Ig and TIR domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306732	Sigirr	single Ig and TIR domain containing	gene	DOID:0080600	COVID-19		ISO	RGD:1604804	D	RGD:9068941	20200702	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306732	Sigirr	single Ig and TIR domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer	
1306732	Sigirr	single Ig and TIR domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306732	Sigirr	single Ig and TIR domain containing	gene	DOID:3275	thymoma		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306732	Sigirr	single Ig and TIR domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1604804	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306732	Sigirr	single Ig and TIR domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306732	Sigirr	single Ig and TIR domain containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306732	Sigirr	single Ig and TIR domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306732	Sigirr	single Ig and TIR domain containing	gene	DOID:9256	colorectal cancer		ISO	RGD:1604804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306733	Zbtb49	zinc finger and BTB domain containing 49	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306733	Zbtb49	zinc finger and BTB domain containing 49	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306733	Zbtb49	zinc finger and BTB domain containing 49	gene	DOID:5041	esophageal cancer		ISO	RGD:1315520	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306733	Zbtb49	zinc finger and BTB domain containing 49	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306733	Zbtb49	zinc finger and BTB domain containing 49	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306734	Cfap53	cilia and flagella associated protein 53	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306734	Cfap53	cilia and flagella associated protein 53	gene	DOID:0051020	visceral heterotaxy 6		ISO	RGD:1344036	D	RGD:7240710	20190315	OMIM			
1306734	Cfap53	cilia and flagella associated protein 53	gene	DOID:0051020	visceral heterotaxy 6		ISO	RGD:1344036	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CFAP53-related condition | ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 6, AUTOSOMAL | ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal	PMID:16199547|PMID:17576681|PMID:22577226|PMID:25504577|PMID:25741868|PMID:26531781|PMID:28492532|PMID:37041101|PMID:9536098
1306734	Cfap53	cilia and flagella associated protein 53	gene	DOID:10534	stomach cancer		ISO	RGD:1344036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306734	Cfap53	cilia and flagella associated protein 53	gene	DOID:1115	sarcoma		ISO	RGD:1344036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306734	Cfap53	cilia and flagella associated protein 53	gene	DOID:3275	thymoma		ISO	RGD:1344036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306734	Cfap53	cilia and flagella associated protein 53	gene	DOID:5041	esophageal cancer		ISO	RGD:1344036	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306734	Cfap53	cilia and flagella associated protein 53	gene	DOID:630	genetic disease		ISO	RGD:1344036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306734	Cfap53	cilia and flagella associated protein 53	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1344036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	
1306734	Cfap53	cilia and flagella associated protein 53	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306734	Cfap53	cilia and flagella associated protein 53	gene	DOID:9565	dextrocardia		ISO	RGD:1344036	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Dextrocardia | ClinVar Annotator: match by term: dextrocardia	PMID:25741868|PMID:26531781
1306734	Cfap53	cilia and flagella associated protein 53	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1344036	D	RGD:8554872	20181009	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	
1306735	Sympk	symplekin scaffold protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306735	Sympk	symplekin scaffold protein	gene	DOID:10534	stomach cancer		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306735	Sympk	symplekin scaffold protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306735	Sympk	symplekin scaffold protein	gene	DOID:1115	sarcoma		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306735	Sympk	symplekin scaffold protein	gene	DOID:1324	lung cancer		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306735	Sympk	symplekin scaffold protein	gene	DOID:1909	melanoma		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306735	Sympk	symplekin scaffold protein	gene	DOID:3070	high grade glioma		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306735	Sympk	symplekin scaffold protein	gene	DOID:3275	thymoma		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306735	Sympk	symplekin scaffold protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306735	Sympk	symplekin scaffold protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1315523	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306735	Sympk	symplekin scaffold protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306735	Sympk	symplekin scaffold protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306735	Sympk	symplekin scaffold protein	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315523	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306735	Sympk	symplekin scaffold protein	gene	DOID:9000918	Disease Progression		ISO	RGD:1315523	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306735	Sympk	symplekin scaffold protein	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306735	Sympk	symplekin scaffold protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306735	Sympk	symplekin scaffold protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306735	Sympk	symplekin scaffold protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306737	Aldh1b1	aldehyde dehydrogenase 1 family, member B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306737	Aldh1b1	aldehyde dehydrogenase 1 family, member B1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1315525	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29718361
1306737	Aldh1b1	aldehyde dehydrogenase 1 family, member B1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1315525	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:25741868
1306737	Aldh1b1	aldehyde dehydrogenase 1 family, member B1	gene	DOID:13580	cholestasis		ISO	RGD:1315525	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
1306737	Aldh1b1	aldehyde dehydrogenase 1 family, member B1	gene	DOID:4362	cervical cancer		ISO	RGD:1315525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306737	Aldh1b1	aldehyde dehydrogenase 1 family, member B1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15650968|PMID:25380136
1306737	Aldh1b1	aldehyde dehydrogenase 1 family, member B1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1315525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25641190
1306737	Aldh1b1	aldehyde dehydrogenase 1 family, member B1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1315525	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1306737	Aldh1b1	aldehyde dehydrogenase 1 family, member B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306738	Tfcp2	transcription factor CP2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306738	Tfcp2	transcription factor CP2	gene	DOID:10534	stomach cancer		ISO	RGD:1315527	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1306738	Tfcp2	transcription factor CP2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306738	Tfcp2	transcription factor CP2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306738	Tfcp2	transcription factor CP2	gene	DOID:4362	cervical cancer		ISO	RGD:1315527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306738	Tfcp2	transcription factor CP2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315527	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1306738	Tfcp2	transcription factor CP2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306738	Tfcp2	transcription factor CP2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306738	Tfcp2	transcription factor CP2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306739	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:1115	sarcoma		ISO	RGD:1315529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306739	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306739	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1315529	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1306739	Cabcoco1	ciliary associated calcium binding coiled-coil 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306740	Zfp692	zinc finger protein 692	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306740	Zfp692	zinc finger protein 692	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306740	Zfp692	zinc finger protein 692	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306740	Zfp692	zinc finger protein 692	gene	DOID:1115	sarcoma		ISO	RGD:1604343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306740	Zfp692	zinc finger protein 692	gene	DOID:1324	lung cancer		ISO	RGD:1604343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306740	Zfp692	zinc finger protein 692	gene	DOID:1909	melanoma		ISO	RGD:1604343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306740	Zfp692	zinc finger protein 692	gene	DOID:3275	thymoma		ISO	RGD:1604343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306740	Zfp692	zinc finger protein 692	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306740	Zfp692	zinc finger protein 692	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306740	Zfp692	zinc finger protein 692	gene	DOID:9002189	High Myopia		ISO	RGD:1604343	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1306740	Zfp692	zinc finger protein 692	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306740	Zfp692	zinc finger protein 692	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306741	Clmn	calmin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306741	Clmn	calmin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1306741	Clmn	calmin	gene	DOID:10534	stomach cancer		ISO	RGD:1315532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1306741	Clmn	calmin	gene	DOID:1115	sarcoma		ISO	RGD:1315532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306741	Clmn	calmin	gene	DOID:1324	lung cancer		ISO	RGD:1315532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306741	Clmn	calmin	gene	DOID:1909	melanoma		ISO	RGD:1315532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306741	Clmn	calmin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306741	Clmn	calmin	gene	DOID:3275	thymoma		ISO	RGD:1315532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306741	Clmn	calmin	gene	DOID:4362	cervical cancer		ISO	RGD:1315532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306741	Clmn	calmin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306741	Clmn	calmin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306741	Clmn	calmin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306741	Clmn	calmin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306741	Clmn	calmin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1306743	Mta2	metastasis associated 1 family, member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306743	Mta2	metastasis associated 1 family, member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306743	Mta2	metastasis associated 1 family, member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306743	Mta2	metastasis associated 1 family, member 2	gene	DOID:1324	lung cancer		ISO	RGD:1315535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306743	Mta2	metastasis associated 1 family, member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306743	Mta2	metastasis associated 1 family, member 2	gene	DOID:289	endometriosis		ISO	RGD:1315535	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
1306743	Mta2	metastasis associated 1 family, member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306743	Mta2	metastasis associated 1 family, member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306743	Mta2	metastasis associated 1 family, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306743	Mta2	metastasis associated 1 family, member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306743	Mta2	metastasis associated 1 family, member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306743	Mta2	metastasis associated 1 family, member 2	gene	DOID:9074	systemic lupus erythematosus		ISS	RGD:1315536	D	RGD:13592920	20180518	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
1306743	Mta2	metastasis associated 1 family, member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1315535	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306745	Gpr39	G protein-coupled receptor 39	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306745	Gpr39	G protein-coupled receptor 39	gene	DOID:3070	high grade glioma		ISO	RGD:1315539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306746	C4h2orf42	similar to human chromosome 2 open reading frame 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306746	C4h2orf42	similar to human chromosome 2 open reading frame 42	gene	DOID:10534	stomach cancer		ISO	RGD:1603029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306746	C4h2orf42	similar to human chromosome 2 open reading frame 42	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306746	C4h2orf42	similar to human chromosome 2 open reading frame 42	gene	DOID:1115	sarcoma		ISO	RGD:1603029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306746	C4h2orf42	similar to human chromosome 2 open reading frame 42	gene	DOID:3275	thymoma		ISO	RGD:1603029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306746	C4h2orf42	similar to human chromosome 2 open reading frame 42	gene	DOID:4362	cervical cancer		ISO	RGD:1603029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306746	C4h2orf42	similar to human chromosome 2 open reading frame 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306746	C4h2orf42	similar to human chromosome 2 open reading frame 42	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306746	C4h2orf42	similar to human chromosome 2 open reading frame 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1306747	Lcn8	lipocalin 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306747	Lcn8	lipocalin 8	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1343207	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1306747	Lcn8	lipocalin 8	gene	DOID:10534	stomach cancer		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306747	Lcn8	lipocalin 8	gene	DOID:1115	sarcoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306747	Lcn8	lipocalin 8	gene	DOID:2394	ovarian cancer		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306747	Lcn8	lipocalin 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306747	Lcn8	lipocalin 8	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306747	Lcn8	lipocalin 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306748	Tal1	TAL bHLH transcription factor 1, erythroid differentiation factor	gene	DOID:1037	lymphoid leukemia		ISS	RGD:1315544	D	RGD:13592920	20240425	MouseDO			
1306748	Tal1	TAL bHLH transcription factor 1, erythroid differentiation factor	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1315543	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:19246562|PMID:24394663
1306748	Tal1	TAL bHLH transcription factor 1, erythroid differentiation factor	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1315543	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306748	Tal1	TAL bHLH transcription factor 1, erythroid differentiation factor	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1315543	D	RGD:7240710	20230505	OMIM			
1306748	Tal1	TAL bHLH transcription factor 1, erythroid differentiation factor	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1315543	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: TAL1-related condition	
1306749	Rabl2	RAB, member of RAS oncogene family like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306749	Rabl2	RAB, member of RAS oncogene family like 2	gene	DOID:3275	thymoma		ISO	RGD:1353591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306749	Rabl2	RAB, member of RAS oncogene family like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306749	Rabl2	RAB, member of RAS oncogene family like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306749	Rabl2	RAB, member of RAS oncogene family like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306752	Tm7sf3	transmembrane 7 superfamily member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306752	Tm7sf3	transmembrane 7 superfamily member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306752	Tm7sf3	transmembrane 7 superfamily member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306752	Tm7sf3	transmembrane 7 superfamily member 3	gene	DOID:1115	sarcoma		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306752	Tm7sf3	transmembrane 7 superfamily member 3	gene	DOID:1909	melanoma		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306752	Tm7sf3	transmembrane 7 superfamily member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306752	Tm7sf3	transmembrane 7 superfamily member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1315548	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306752	Tm7sf3	transmembrane 7 superfamily member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306752	Tm7sf3	transmembrane 7 superfamily member 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306752	Tm7sf3	transmembrane 7 superfamily member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306752	Tm7sf3	transmembrane 7 superfamily member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306752	Tm7sf3	transmembrane 7 superfamily member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:10534	stomach cancer		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:11162	respiratory failure		ISO	RGD:1315550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute respiratory failure	PMID:25741868|PMID:32220290
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:1909	melanoma		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:3070	high grade glioma		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:4362	cervical cancer		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:630	genetic disease		ISO	RGD:1315550	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:9001146	Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures		ISO	RGD:1315550	D	RGD:7240710	20200715	OMIM			
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:9001146	Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures		ISO	RGD:1315550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	PMID:25741868|PMID:32220290
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:32220290
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:32220290
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:9006635	Hyponatremia		ISO	RGD:1315550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:25741868|PMID:32220290
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:32220290
1306753	Pigk	phosphatidylinositol glycan anchor biosynthesis, class K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306755	Txndc16	thioredoxin domain containing 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306755	Txndc16	thioredoxin domain containing 16	gene	DOID:10534	stomach cancer		ISO	RGD:1315553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306755	Txndc16	thioredoxin domain containing 16	gene	DOID:1324	lung cancer		ISO	RGD:1315553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306755	Txndc16	thioredoxin domain containing 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306755	Txndc16	thioredoxin domain containing 16	gene	DOID:3070	high grade glioma		ISO	RGD:1315553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306755	Txndc16	thioredoxin domain containing 16	gene	DOID:3275	thymoma		ISO	RGD:1315553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306755	Txndc16	thioredoxin domain containing 16	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306755	Txndc16	thioredoxin domain containing 16	gene	DOID:4362	cervical cancer		ISO	RGD:1315553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306755	Txndc16	thioredoxin domain containing 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306755	Txndc16	thioredoxin domain containing 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1315553	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306755	Txndc16	thioredoxin domain containing 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306755	Txndc16	thioredoxin domain containing 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306755	Txndc16	thioredoxin domain containing 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL	
1306757	Rnf125	ring finger protein 125	gene	DOID:1324	lung cancer		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306757	Rnf125	ring finger protein 125	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306757	Rnf125	ring finger protein 125	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306757	Rnf125	ring finger protein 125	gene	DOID:630	genetic disease		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306757	Rnf125	ring finger protein 125	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306757	Rnf125	ring finger protein 125	gene	DOID:9000905	Tenorio Syndrome		ISO	RGD:1315557	D	RGD:7240710	20170419	OMIM			
1306757	Rnf125	ring finger protein 125	gene	DOID:9000905	Tenorio Syndrome		ISO	RGD:1315557	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: TENORIO SYNDROME | ClinVar Annotator: match by term: Tenorio syndrome	PMID:25196541|PMID:25741868|PMID:28492532|PMID:34196401
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1315559	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:17576681|PMID:28492532|PMID:9536098
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1315559	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25210889|PMID:28492532|PMID:9536098
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1315559	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25210889|PMID:25741868|PMID:28492532|PMID:9536098
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:9008751	NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1		ISO	RGD:1315559	D	RGD:7240710	20240918	OMIM			
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:9008751	NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1		ISO	RGD:1315559	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1 | ClinVar Annotator: match by term: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1	PMID:25741868
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306758	Gtpbp1	GTP binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1315561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:27431290|PMID:27866705|PMID:28492532
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:0080441	developmental and epileptic encephalopathy 49		ISO	RGD:1315561	D	RGD:7240710	20190315	OMIM			
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:0080441	developmental and epileptic encephalopathy 49		ISO	RGD:1315561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DENND5A-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 49 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 49	PMID:16199547|PMID:25741868|PMID:27431290|PMID:27866705|PMID:28492532
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:0080922	complex cortical dysplasia with other brain malformations 14A		ISO	RGD:1315561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral frontoparietal polymicrogyria	PMID:25741868
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:1826	epilepsy		ISO	RGD:1315561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:1909	melanoma		ISO	RGD:1315561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:4362	cervical cancer		ISO	RGD:1315561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:5041	esophageal cancer		ISO	RGD:1315561	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:630	genetic disease		ISO	RGD:1315561	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27431290|PMID:27866705|PMID:28492532
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
1306759	Dennd5a	DENN domain containing 5A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306761	Prodh2	proline dehydrogenase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306761	Prodh2	proline dehydrogenase 2	gene	DOID:0051100	hydroxyprolinemia		ISO	RGD:1315565	D	RGD:7240710	20260701	OMIM			
1306761	Prodh2	proline dehydrogenase 2	gene	DOID:0051100	hydroxyprolinemia		ISO	RGD:1315565	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HYDROXYPROLINEMIA	
1306761	Prodh2	proline dehydrogenase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306761	Prodh2	proline dehydrogenase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306761	Prodh2	proline dehydrogenase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315565	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306762	Eef1akmt1	EEF1A lysine methyltransferase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306762	Eef1akmt1	EEF1A lysine methyltransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306762	Eef1akmt1	EEF1A lysine methyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306762	Eef1akmt1	EEF1A lysine methyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606676	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306763	Foxred2	FAD-dependent oxidoreductase domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306763	Foxred2	FAD-dependent oxidoreductase domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1602317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306763	Foxred2	FAD-dependent oxidoreductase domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602317	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306763	Foxred2	FAD-dependent oxidoreductase domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306763	Foxred2	FAD-dependent oxidoreductase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306763	Foxred2	FAD-dependent oxidoreductase domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306763	Foxred2	FAD-dependent oxidoreductase domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306764	Kdelr1	KDEL endoplasmic reticulum protein retention receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306764	Kdelr1	KDEL endoplasmic reticulum protein retention receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306764	Kdelr1	KDEL endoplasmic reticulum protein retention receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306764	Kdelr1	KDEL endoplasmic reticulum protein retention receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1315569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306764	Kdelr1	KDEL endoplasmic reticulum protein retention receptor 1	gene	DOID:1909	melanoma		ISO	RGD:1315569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306764	Kdelr1	KDEL endoplasmic reticulum protein retention receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306764	Kdelr1	KDEL endoplasmic reticulum protein retention receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315569	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306764	Kdelr1	KDEL endoplasmic reticulum protein retention receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306764	Kdelr1	KDEL endoplasmic reticulum protein retention receptor 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315569	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1306764	Kdelr1	KDEL endoplasmic reticulum protein retention receptor 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306764	Kdelr1	KDEL endoplasmic reticulum protein retention receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306764	Kdelr1	KDEL endoplasmic reticulum protein retention receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306765	Ggn	gametogenetin	gene	DOID:0070568	spermatogenic failure 69		ISO	RGD:1315571	D	RGD:7240710	20220427	OMIM			
1306765	Ggn	gametogenetin	gene	DOID:0070568	spermatogenic failure 69		ISO	RGD:1315571	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GGN-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 69	PMID:25741868|PMID:28492532
1306765	Ggn	gametogenetin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306765	Ggn	gametogenetin	gene	DOID:5041	esophageal cancer		ISO	RGD:1315571	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306765	Ggn	gametogenetin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306766	Ccdc81	coiled-coil domain containing 81	gene	DOID:1115	sarcoma		ISO	RGD:1605353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306766	Ccdc81	coiled-coil domain containing 81	gene	DOID:1909	melanoma		ISO	RGD:1605353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306766	Ccdc81	coiled-coil domain containing 81	gene	DOID:3275	thymoma		ISO	RGD:1605353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306766	Ccdc81	coiled-coil domain containing 81	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306766	Ccdc81	coiled-coil domain containing 81	gene	DOID:5041	esophageal cancer		ISO	RGD:1605353	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306766	Ccdc81	coiled-coil domain containing 81	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306766	Ccdc81	coiled-coil domain containing 81	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306766	Ccdc81	coiled-coil domain containing 81	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306767	Tpd52	tumor protein D52	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315573	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:17875733|PMID:27415467
1306767	Tpd52	tumor protein D52	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1315573	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
1306768	Sp6	Sp6 transcription factor	gene	DOID:0060945	amelogenesis imperfecta type 1K		ISO	RGD:1315575	D	RGD:7240710	20221102	OMIM			
1306768	Sp6	Sp6 transcription factor	gene	DOID:2187	amelogenesis imperfecta		IMP		D	RGD:10047189|PMID:22676574	20210421	RGD			
1306768	Sp6	Sp6 transcription factor	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315575	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1306768	Sp6	Sp6 transcription factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306769	Tm2d2	TM2 domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1602456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306769	Tm2d2	TM2 domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306769	Tm2d2	TM2 domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602456	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306769	Tm2d2	TM2 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306769	Tm2d2	TM2 domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306769	Tm2d2	TM2 domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306769	Tm2d2	TM2 domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306770	S100a16	S100 calcium binding protein A16	gene	DOID:1909	melanoma		ISO	RGD:1315577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306770	S100a16	S100 calcium binding protein A16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306771	Cdan1	codanin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306771	Cdan1	codanin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:16141353|PMID:16754775|PMID:17576681|PMID:25741868|PMID:28102861|PMID:28492532|PMID:29599085|PMID:29901818|PMID:33401150|PMID:9536098
1306771	Cdan1	codanin 1	gene	DOID:0111396	congenital dyserythropoietic anemia type I		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I | ClinVar Annotator: match by term: Dyserythropoietic anemia, congenital type 1	PMID:12434312|PMID:23065504|PMID:25741868|PMID:27432187|PMID:28132690|PMID:28492532|PMID:31097629|PMID:35417566
1306771	Cdan1	codanin 1	gene	DOID:0111398	congenital dyserythropoietic anemia type Ia		ISO	RGD:1315579	D	RGD:1600473|PMID:12434312	20070309	RGD		DNA:missense mutations, nonsense mutations:cds:multiple	
1306771	Cdan1	codanin 1	gene	DOID:0111398	congenital dyserythropoietic anemia type Ia		ISO	RGD:1315579	D	RGD:40903075|PMID:16754775	20210111	RGD		DNA:mutations:multiple	
1306771	Cdan1	codanin 1	gene	DOID:0111398	congenital dyserythropoietic anemia type Ia		ISO	RGD:1315579	D	RGD:40903076|PMID:29031773	20210111	RGD		DNA:missense mutations, frameshift mutations, nonsense mutation:cds:multiple	
1306771	Cdan1	codanin 1	gene	DOID:0111398	congenital dyserythropoietic anemia type Ia		ISO	RGD:1315579	D	RGD:40903077|PMID:15543010	20210111	RGD		DNA:missense mutation:cds:p.R1042W (human)	
1306771	Cdan1	codanin 1	gene	DOID:0111398	congenital dyserythropoietic anemia type Ia		ISO	RGD:1315579	D	RGD:7240710	20191009	OMIM			
1306771	Cdan1	codanin 1	gene	DOID:0111398	congenital dyserythropoietic anemia type Ia		ISO	RGD:1315579	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia | ClinVar Annotator: match by term: CDAN1-related condition | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia	PMID:16098079|PMID:16141353|PMID:16754775|PMID:17576681|PMID:25741868|PMID:26467025|PMID:27432187|PMID:28102861|PMID:28492532|PMID:29599085|PMID:29901818|PMID:33401150|PMID:34493867|PMID:37432431|PMID:38666530|PMID:9536098
1306771	Cdan1	codanin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306771	Cdan1	codanin 1	gene	DOID:1115	sarcoma		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306771	Cdan1	codanin 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:1247	blood coagulation disease		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:1324	lung cancer		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1315579	D	RGD:11081155|PMID:16098079	20160526	RGD		DNA:mutations:multiple (human)	
1306771	Cdan1	codanin 1	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1315579	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	
1306771	Cdan1	codanin 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306771	Cdan1	codanin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315579	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16098079|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33401150|PMID:34493867|PMID:9536098
1306771	Cdan1	codanin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306771	Cdan1	codanin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306771	Cdan1	codanin 1	gene	DOID:630	genetic disease		ISO	RGD:1315579	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:9002513	Hypoproteinemia		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoproteinemia	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute liver failure	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:9006635	Hyponatremia		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1306771	Cdan1	codanin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1306773	Ube3d	ubiquitin protein ligase E3D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306773	Ube3d	ubiquitin protein ligase E3D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306773	Ube3d	ubiquitin protein ligase E3D	gene	DOID:1324	lung cancer		ISO	RGD:1315581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306773	Ube3d	ubiquitin protein ligase E3D	gene	DOID:1909	melanoma		ISO	RGD:1315581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306773	Ube3d	ubiquitin protein ligase E3D	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306773	Ube3d	ubiquitin protein ligase E3D	gene	DOID:4362	cervical cancer		ISO	RGD:1315581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306773	Ube3d	ubiquitin protein ligase E3D	gene	DOID:5041	esophageal cancer		ISO	RGD:1315581	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306773	Ube3d	ubiquitin protein ligase E3D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306773	Ube3d	ubiquitin protein ligase E3D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306774	Tada1	transcriptional adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306774	Tada1	transcriptional adaptor 1	gene	DOID:1909	melanoma		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306774	Tada1	transcriptional adaptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306774	Tada1	transcriptional adaptor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306774	Tada1	transcriptional adaptor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306774	Tada1	transcriptional adaptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606748	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306774	Tada1	transcriptional adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306774	Tada1	transcriptional adaptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306774	Tada1	transcriptional adaptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:10534	stomach cancer		ISO	RGD:1602205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:12236	primary biliary cholangitis		ISS	RGD:1618974	D	RGD:13592920	20210708	MouseDO		OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221	
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1618974	D	RGD:39938961|PMID:23422584	20201015	RGD			
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:14262	oral candidiasis		ISO	RGD:1618974	D	RGD:11534569|PMID:26320658	20201015	RGD			
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:2043	hepatitis B	treatment	ISO	RGD:1602205	D	RGD:39938973|PMID:31926181	20201016	RGD		human gene in a mouse model	
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:4362	cervical cancer		ISO	RGD:1602205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:874	bacterial pneumonia		ISO	RGD:1618974	D	RGD:39938967|PMID:29695841	20201016	RGD		associated with Pseudomonas Infections	
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:9000469	Viral Myocarditis	disease_progression	ISO	RGD:1618974	D	RGD:39938975|PMID:29043433	20201016	RGD		associated with Coxsackievirus Infections; mRNA,protein:increased expression:heart,pancreas (mouse)	
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1602205	D	RGD:9068941	20201016	RGD		protein:increased expression:liver (human)	PMID:21739451|REF_RGD_ID:39938976
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:1602205	D	RGD:39938960|PMID:25225661	20201015	RGD		protein:increased expression:liver (human)	
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:9004610	Acute Lung Injury	severity	ISO	RGD:1618974	D	RGD:39938961|PMID:23422584	20201015	RGD		associated with toxic shock syndrome	
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:9006474	Arterial Occlusive Diseases		ISO	RGD:1602205	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22196138
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306776	Zc3h12a	zinc finger CCCH type containing 12A	gene	DOID:9006973	Acute Experimental Autoimmune Encephalomyelitis	disease_progression	ISO	RGD:1618974	D	RGD:11534569|PMID:26320658	20201015	RGD			
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GM3 synthase deficiency	PMID:25741868
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:0070309	absence epilepsy		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:38165337
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:11782	astigmatism		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:12849	autistic disorder		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:1826	epilepsy		ISO	RGD:1315588	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizures	PMID:25741868|PMID:27352968|PMID:28492532|PMID:32162308|PMID:34374989|PMID:38165337
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:1827	generalized epilepsy		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:38165337
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:1909	melanoma		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:289	endometriosis		ISO	RGD:1315588	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:4362	cervical cancer		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:630	genetic disease		ISO	RGD:1315588	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25356972|PMID:28492532|PMID:32162308
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:9009307	Idiopathic Generalized Epilepsy 15		ISO	RGD:1315588	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 15 | ClinVar Annotator: match by term: RORB-related condition	PMID:16199547|PMID:25356972|PMID:25741868|PMID:27352968|PMID:28492532|PMID:32162308|PMID:34374989|PMID:38165337|PMID:39897619
1306778	Rorb	RAR-related orphan receptor B	gene	DOID:9009307	Idiopathic Generalized Epilepsy 15	susceptibility	ISO	RGD:1315588	D	RGD:7240710	20190904	OMIM			
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:0111227	frontotemporal dementia and/or amyotrophic lateral sclerosis 7		ISO	RGD:1603668	D	RGD:7240710	20151216	OMIM			
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:0111227	frontotemporal dementia and/or amyotrophic lateral sclerosis 7		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 17 | ClinVar Annotator: match by term: CHMP2B-related condition | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	PMID:16041373|PMID:16431024|PMID:16807408|PMID:16941655|PMID:16954699|PMID:17576681|PMID:20301378|PMID:20352044|PMID:20592581|PMID:20625756|PMID:21222599|PMID:23155438|PMID:25558820|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28430856|PMID:28492532|PMID:29411640|PMID:29431110|PMID:29525180|PMID:30054184|PMID:30766798|PMID:31914217|PMID:32638105|PMID:32908482|PMID:35896380|PMID:9536098
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:11162	respiratory failure		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:1909	melanoma		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:3087	gingivitis		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1603668	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16807408
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1603668	D	RGD:5688711|PMID:16807408	20120301	RGD		DNA:mutations:cds:Q206H, I29V (human)	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:630	genetic disease		ISO	RGD:1603668	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:7998	hyperthyroidism		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:824	periodontitis		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:8725	vascular dementia		ISO	RGD:1603668	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1603668	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17956895
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1603668	D	RGD:5688397|PMID:22366797	20120301	RGD			
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:9002031	Frontotemporal Lobar Degeneration	no_association	ISO	RGD:1603668	D	RGD:5688712|PMID:20412296	20120301	RGD			
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:9005077	Joint Instability		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1603668	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16041373
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1603668	D	RGD:5688398|PMID:16041373	20120301	RGD		DNA:mutations:cds	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1603668	D	RGD:5688716|PMID:19202337	20120302	RGD		DNA:mutations: :	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:9255	frontotemporal dementia		ISS	RGD:1551412	D	RGD:13592920	20230718	MouseDO		OMIM:600274	
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:9255	frontotemporal dementia	no_association	ISO	RGD:1603668	D	RGD:5688721|PMID:16979267	20120302	RGD			
1306781	Chmp2b	charged multivesicular body protein 2B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1603668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1306784	Taco1	translational activator of cytochrome c oxidase I	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1602721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:25741868|PMID:28492532
1306784	Taco1	translational activator of cytochrome c oxidase I	gene	DOID:0070495	mitochondrial complex IV deficiency nuclear type 8		ISO	RGD:1602721	D	RGD:7240710	20201111	OMIM			
1306784	Taco1	translational activator of cytochrome c oxidase I	gene	DOID:0070495	mitochondrial complex IV deficiency nuclear type 8		ISO	RGD:1602721	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 8 | ClinVar Annotator: match by term: TACO1-related condition	PMID:16199547|PMID:19503089|PMID:25044680|PMID:25741868|PMID:28492532
1306784	Taco1	translational activator of cytochrome c oxidase I	gene	DOID:3652	Leigh disease		ISO	RGD:1602721	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19503089
1306784	Taco1	translational activator of cytochrome c oxidase I	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1602721	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19503089
1306784	Taco1	translational activator of cytochrome c oxidase I	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1602721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex IV deficiency	PMID:28492532
1306784	Taco1	translational activator of cytochrome c oxidase I	gene	DOID:4362	cervical cancer		ISO	RGD:1602721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306784	Taco1	translational activator of cytochrome c oxidase I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306784	Taco1	translational activator of cytochrome c oxidase I	gene	DOID:630	genetic disease		ISO	RGD:1602721	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306784	Taco1	translational activator of cytochrome c oxidase I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306785	Cope	coat protein complex I subunit epsilon	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306785	Cope	coat protein complex I subunit epsilon	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306785	Cope	coat protein complex I subunit epsilon	gene	DOID:4362	cervical cancer		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306785	Cope	coat protein complex I subunit epsilon	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306785	Cope	coat protein complex I subunit epsilon	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306785	Cope	coat protein complex I subunit epsilon	gene	DOID:5041	esophageal cancer		ISO	RGD:1315598	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306785	Cope	coat protein complex I subunit epsilon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306785	Cope	coat protein complex I subunit epsilon	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306785	Cope	coat protein complex I subunit epsilon	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1306786	Rsph6a	radial spoke head 6 homolog A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306786	Rsph6a	radial spoke head 6 homolog A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306786	Rsph6a	radial spoke head 6 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306786	Rsph6a	radial spoke head 6 homolog A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306786	Rsph6a	radial spoke head 6 homolog A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306787	Hmbox1	homeobox containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603011	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306787	Hmbox1	homeobox containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306787	Hmbox1	homeobox containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1603011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1306787	Hmbox1	homeobox containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603011	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306787	Hmbox1	homeobox containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306787	Hmbox1	homeobox containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306787	Hmbox1	homeobox containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306787	Hmbox1	homeobox containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1315602	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:1909	melanoma		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:3275	thymoma		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315602	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315602	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306788	Lrig1	leucine-rich repeats and immunoglobulin-like domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306789	Bin2	bridging integrator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306789	Bin2	bridging integrator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306789	Bin2	bridging integrator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306789	Bin2	bridging integrator 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306789	Bin2	bridging integrator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315604	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306789	Bin2	bridging integrator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306789	Bin2	bridging integrator 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306789	Bin2	bridging integrator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306789	Bin2	bridging integrator 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1315604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306790	Mex3b	mex-3 RNA binding family member B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306790	Mex3b	mex-3 RNA binding family member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306790	Mex3b	mex-3 RNA binding family member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306791	Dna2	DNA replication helicase/nuclease 2	gene	DOID:0060873	isolated growth hormone deficiency type IA		ISO	RGD:1315606	D	RGD:8694132|PMID:24389050	20140724	RGD		DNA:mutation:cds:	
1306791	Dna2	DNA replication helicase/nuclease 2	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1315606	D	RGD:10401079|PMID:23352259	20150924	RGD		DNA:mutations:cds:	
1306792	Atp13a5	ATPase 13A5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306792	Atp13a5	ATPase 13A5	gene	DOID:10534	stomach cancer		ISO	RGD:1343803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306792	Atp13a5	ATPase 13A5	gene	DOID:1324	lung cancer		ISO	RGD:1343803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306792	Atp13a5	ATPase 13A5	gene	DOID:3070	high grade glioma		ISO	RGD:1343803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306792	Atp13a5	ATPase 13A5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306792	Atp13a5	ATPase 13A5	gene	DOID:5041	esophageal cancer		ISO	RGD:1343803	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306792	Atp13a5	ATPase 13A5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306792	Atp13a5	ATPase 13A5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0060934	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy		ISO	RGD:1315610	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	PMID:25741868
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0070757	Pilarowski-Bjornsson syndrome		ISO	RGD:1315610	D	RGD:7240710	20190315	OMIM			
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0070757	Pilarowski-Bjornsson syndrome		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHD1-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL DELAY AND SPEECH APRAXIA WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: PILAROWSKI-BJORNSSON SYNDROME | ClinVar Annotator: match by term: Pilarowski-Bjornsson syndrome	PMID:25418537|PMID:25741868|PMID:28866611|PMID:40385454
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1315610	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:25741868
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1315610	D	RGD:9587749|PMID:22722839	20141016	RGD		DNA:mutations: :	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1315610	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1315610	D	RGD:9587750|PMID:22179824	20141016	RGD		DNA:deletions: :	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:11830	myopia		ISO	RGD:1315610	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1315610	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315610	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315610	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315610	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315610	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1315610	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30728766
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1315610	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
1306794	Chd1	chromodomain helicase DNA binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:10534	stomach cancer		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:1115	sarcoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:1324	lung cancer		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:1909	melanoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:4362	cervical cancer		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1315612	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306795	Chd9	chromodomain helicase DNA binding protein 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306796	Enam	enamelin	gene	DOID:0110052	amelogenesis imperfecta type 1B		ISO	RGD:1315614	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306796	Enam	enamelin	gene	DOID:0110052	amelogenesis imperfecta type 1B		ISO	RGD:1315614	D	RGD:1598908|PMID:11487571	20061221	RGD			
1306796	Enam	enamelin	gene	DOID:0110052	amelogenesis imperfecta type 1B		ISO	RGD:1315614	D	RGD:7240710	20130221	OMIM			
1306796	Enam	enamelin	gene	DOID:0110052	amelogenesis imperfecta type 1B		ISO	RGD:1315614	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IB | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B | ClinVar Annotator: match by term: amelogenesis imperfecta type 1B	PMID:12828988|PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:25741868|PMID:28334996|PMID:28492532|PMID:31478359|PMID:33864320
1306796	Enam	enamelin	gene	DOID:0110052	amelogenesis imperfecta type 1B		ISS	RGD:1315615	D	RGD:13592920	20230718	MouseDO		OMIM:104500	
1306796	Enam	enamelin	gene	DOID:0110056	amelogenesis imperfecta type 1C		ISO	RGD:1315614	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306796	Enam	enamelin	gene	DOID:0110056	amelogenesis imperfecta type 1C		ISO	RGD:1315614	D	RGD:7240710	20130221	OMIM			
1306796	Enam	enamelin	gene	DOID:0110056	amelogenesis imperfecta type 1C		ISO	RGD:1315614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C	PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:25741868|PMID:28492532|PMID:40741335
1306796	Enam	enamelin	gene	DOID:10534	stomach cancer		ISO	RGD:1315614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1306796	Enam	enamelin	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1315614	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15649948|PMID:17652207
1306796	Enam	enamelin	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1315614	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia	PMID:25741868|PMID:28492532
1306796	Enam	enamelin	gene	DOID:630	genetic disease		ISO	RGD:1315614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:25741868|PMID:28492532
1306796	Enam	enamelin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306798	Lin52	lin-52 DREAM MuvB core complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315617	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:0060058	lymphoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:10534	stomach cancer		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:1115	sarcoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:1909	melanoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:2394	ovarian cancer		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:4362	cervical cancer		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1315618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:9007661	Dwarfism		ISO	RGD:1315618	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306799	Usp24	ubiquitin specific peptidase 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306800	Dyrk4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306800	Dyrk4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306800	Dyrk4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306800	Dyrk4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306800	Dyrk4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1351667	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306800	Dyrk4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306800	Dyrk4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306800	Dyrk4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306800	Dyrk4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306801	Clvs2	clavesin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306801	Clvs2	clavesin 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306802	Naf1	nuclear assembly factor 1 ribonucleoprotein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306802	Naf1	nuclear assembly factor 1 ribonucleoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1606990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306802	Naf1	nuclear assembly factor 1 ribonucleoprotein	gene	DOID:1324	lung cancer		ISO	RGD:1606990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306802	Naf1	nuclear assembly factor 1 ribonucleoprotein	gene	DOID:1909	melanoma		ISO	RGD:1606990	D	RGD:152995261|PMID:25231748	20220610	RGD		DNA:SNP:cds:rs7675988 (human)	
1306802	Naf1	nuclear assembly factor 1 ribonucleoprotein	gene	DOID:1909	melanoma		ISO	RGD:1606990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306802	Naf1	nuclear assembly factor 1 ribonucleoprotein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306802	Naf1	nuclear assembly factor 1 ribonucleoprotein	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1606990	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:25741868|PMID:28492532
1306802	Naf1	nuclear assembly factor 1 ribonucleoprotein	gene	DOID:5041	esophageal cancer		ISO	RGD:1606990	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306802	Naf1	nuclear assembly factor 1 ribonucleoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306802	Naf1	nuclear assembly factor 1 ribonucleoprotein	gene	DOID:9005771	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7		ISO	RGD:1606990	D	RGD:7240710	20230517	OMIM			
1306802	Naf1	nuclear assembly factor 1 ribonucleoprotein	gene	DOID:9005771	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7		ISO	RGD:1606990	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: NAF1-related condition | ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	PMID:25741868|PMID:27510903|PMID:28492532
1306802	Naf1	nuclear assembly factor 1 ribonucleoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306802	Naf1	nuclear assembly factor 1 ribonucleoprotein	gene	DOID:9256	colorectal cancer		ISO	RGD:1606990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306803	Mta3	metastasis associated 1 family, member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306803	Mta3	metastasis associated 1 family, member 3	gene	DOID:1115	sarcoma		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306803	Mta3	metastasis associated 1 family, member 3	gene	DOID:3275	thymoma		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306803	Mta3	metastasis associated 1 family, member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306803	Mta3	metastasis associated 1 family, member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306803	Mta3	metastasis associated 1 family, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306803	Mta3	metastasis associated 1 family, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306803	Mta3	metastasis associated 1 family, member 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1315624	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1306803	Mta3	metastasis associated 1 family, member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306803	Mta3	metastasis associated 1 family, member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306804	Creg1	cellular repressor of E1A-stimulated genes 1	gene	DOID:0080600	COVID-19		ISO	RGD:1348156	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306804	Creg1	cellular repressor of E1A-stimulated genes 1	gene	DOID:1324	lung cancer		ISO	RGD:1348156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306804	Creg1	cellular repressor of E1A-stimulated genes 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348156	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306804	Creg1	cellular repressor of E1A-stimulated genes 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306804	Creg1	cellular repressor of E1A-stimulated genes 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1348156	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1306804	Creg1	cellular repressor of E1A-stimulated genes 1	gene	DOID:9775	diastolic heart failure		ISO	RGD:1348156	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1306805	Zfp644	zinc finger protein 644	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306805	Zfp644	zinc finger protein 644	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306805	Zfp644	zinc finger protein 644	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306805	Zfp644	zinc finger protein 644	gene	DOID:1115	sarcoma		ISO	RGD:1604575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306805	Zfp644	zinc finger protein 644	gene	DOID:3021	acute kidney failure		ISO	RGD:1604575	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:36052886
1306805	Zfp644	zinc finger protein 644	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306805	Zfp644	zinc finger protein 644	gene	DOID:5041	esophageal cancer		ISO	RGD:1604575	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306805	Zfp644	zinc finger protein 644	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306805	Zfp644	zinc finger protein 644	gene	DOID:9003525	Myopia 21, Autosomal Dominant		ISO	RGD:1604575	D	RGD:7240710	20140911	OMIM			
1306805	Zfp644	zinc finger protein 644	gene	DOID:9003525	Myopia 21, Autosomal Dominant		ISO	RGD:1604575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MYOPIA 21, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myopia 21, autosomal dominant | ClinVar Annotator: match by term: ZNF644-related condition	PMID:25741868|PMID:28492532
1306805	Zfp644	zinc finger protein 644	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306807	Vpreb3	V-set pre-B cell surrogate light chain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306807	Vpreb3	V-set pre-B cell surrogate light chain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306807	Vpreb3	V-set pre-B cell surrogate light chain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306807	Vpreb3	V-set pre-B cell surrogate light chain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306808	Lsm4	LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306808	Lsm4	LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306808	Lsm4	LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:1936	atherosclerosis		ISO	RGD:1315632	D	RGD:155882464|PMID:33381146	20230123	RGD		associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human)	
1306808	Lsm4	LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:4362	cervical cancer		ISO	RGD:1315632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306808	Lsm4	LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306808	Lsm4	LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306808	Lsm4	LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306808	Lsm4	LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:0080541	hyperprolinemia		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperprolinemia	PMID:25741868|PMID:28492532|PMID:29388319
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:1596	depressive disorder		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:2030	anxiety disorder		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:3087	gingivitis		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:28492532
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:423	myopathy		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:28492532|PMID:29388319
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:5723	optic atrophy		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532|PMID:29388319
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9000052	Breech Presentation		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breech presentation	PMID:25741868|PMID:28492532|PMID:29388319
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868|PMID:28492532|PMID:29388319
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9001733	Tinnitus		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9003539	Hyperacusis		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9005077	Joint Instability		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9005948	2,4-Dienoyl-CoA Reductase Deficiency		ISO	RGD:1604237	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9005948	2,4-Dienoyl-CoA Reductase Deficiency		ISO	RGD:1604237	D	RGD:7240710	20171011	OMIM			
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9005948	2,4-Dienoyl-CoA Reductase Deficiency		ISO	RGD:1604237	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 2,4-dienoyl-CoA reductase deficiency | ClinVar Annotator: match by term: NADK2-related disorder | ClinVar Annotator: match by term: Progressive encephalopathy with leukodystrophy due to DECR deficiency	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29388319|PMID:33223529|PMID:9536098
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9007736	Vertigo		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9008023	Memory Disorders		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9240	erythromelalgia		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute episodes of neuropathic symptoms	PMID:25741868|PMID:28492532|PMID:29388319
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9274	hyperlysinemia		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlysinemia	PMID:25741868|PMID:28492532|PMID:29388319
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9335	scotoma		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scotoma	PMID:25741868|PMID:28492532|PMID:29388319
1306809	Nadk2	NAD kinase 2, mitochondrial	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1604237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pendular nystagmus	PMID:25741868|PMID:28492532|PMID:29388319
1306810	Rpa3	replication protein A3	gene	DOID:1909	melanoma		ISO	RGD:1315635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306810	Rpa3	replication protein A3	gene	DOID:4362	cervical cancer		ISO	RGD:1315635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306810	Rpa3	replication protein A3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306810	Rpa3	replication protein A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1605560	D	RGD:8554872	20190611	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:30763456
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0080315	megalencephalic leukoencephalopathy with subcortical cysts		ISO	RGD:1605560	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0080315	megalencephalic leukoencephalopathy with subcortical cysts		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy with swelling and cysts | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts	PMID:25741868|PMID:28492532
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0080315	megalencephalic leukoencephalopathy with subcortical cysts		ISS	RGD:1315637	D	RGD:13592920	20230718	MouseDO			
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0080316	megalencephalic leukoencephalopathy with subcortical cysts 1		ISO	RGD:1605560	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 | ClinVar Annotator: match by term: VAN DER KNAAP DISEASE	PMID:25741868|PMID:28492532
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0080317	megalencephalic leukoencephalopathy with subcortical cysts 2B		ISO	RGD:1605560	D	RGD:7240710	20140911	OMIM			
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0080317	megalencephalic leukoencephalopathy with subcortical cysts 2B		ISO	RGD:1605560	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	PMID:21419380|PMID:21624973|PMID:22405205|PMID:23793458|PMID:25044933|PMID:25363768|PMID:25741868|PMID:26402605|PMID:27322623|PMID:27819278|PMID:28191890|PMID:28492532|PMID:28905383|PMID:31372844|PMID:31960914|PMID:34531445|PMID:38487253
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0080318	megalencephalic leukoencephalopathy with subcortical cysts 2A		ISO	RGD:1605560	D	RGD:7240710	20140911	OMIM			
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:0080318	megalencephalic leukoencephalopathy with subcortical cysts 2A		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HEPACAM-related condition | ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A	PMID:21419380|PMID:25044933|PMID:25741868|PMID:28492532|PMID:31960914|PMID:38487253
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:1059	intellectual disability		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:3275	thymoma		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:630	genetic disease		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21419380|PMID:25741868|PMID:28492532|PMID:38487253
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:720	normocytic anemia		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Normocytic anemia	PMID:25741868
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:21419380|PMID:25044933|PMID:25741868|PMID:28492532|PMID:31960914
1306811	Hepacam	hepatic and glial cell adhesion molecule	gene	DOID:9004866	Ataxia		ISO	RGD:1605560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:29389947
1306813	Acsm1	acyl-CoA synthetase medium-chain family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306813	Acsm1	acyl-CoA synthetase medium-chain family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306813	Acsm1	acyl-CoA synthetase medium-chain family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1315639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306813	Acsm1	acyl-CoA synthetase medium-chain family member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306813	Acsm1	acyl-CoA synthetase medium-chain family member 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306813	Acsm1	acyl-CoA synthetase medium-chain family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306813	Acsm1	acyl-CoA synthetase medium-chain family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315639	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306813	Acsm1	acyl-CoA synthetase medium-chain family member 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1315639	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17114358
1306814	Acoxl	acyl-CoA oxidase-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306814	Acoxl	acyl-CoA oxidase-like	gene	DOID:10534	stomach cancer		ISO	RGD:1315641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306814	Acoxl	acyl-CoA oxidase-like	gene	DOID:1324	lung cancer		ISO	RGD:1315641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306814	Acoxl	acyl-CoA oxidase-like	gene	DOID:4362	cervical cancer		ISO	RGD:1315641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306814	Acoxl	acyl-CoA oxidase-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306814	Acoxl	acyl-CoA oxidase-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306814	Acoxl	acyl-CoA oxidase-like	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1315641	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770605
1306814	Acoxl	acyl-CoA oxidase-like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315641	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306814	Acoxl	acyl-CoA oxidase-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306815	Kif3b	kinesin family member 3B	gene	DOID:0112146	retinitis pigmentosa 89		ISO	RGD:1315643	D	RGD:7240710	20200722	OMIM			
1306815	Kif3b	kinesin family member 3B	gene	DOID:0112146	retinitis pigmentosa 89		ISO	RGD:1315643	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 89 | ClinVar Annotator: match by term: Retinitis pigmentosa 89	PMID:25741868|PMID:32386558
1306815	Kif3b	kinesin family member 3B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306815	Kif3b	kinesin family member 3B	gene	DOID:1324	lung cancer		ISO	RGD:1315643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306815	Kif3b	kinesin family member 3B	gene	DOID:14228	oligospermia		ISO	RGD:1315643	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: Oligospermia	
1306815	Kif3b	kinesin family member 3B	gene	DOID:4362	cervical cancer		ISO	RGD:1315643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306815	Kif3b	kinesin family member 3B	gene	DOID:5419	schizophrenia		ISS	RGD:1315644	D	RGD:13592920	20200528	MouseDO		OMIM:181500	
1306815	Kif3b	kinesin family member 3B	gene	DOID:5723	optic atrophy		ISO	RGD:1315643	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1306815	Kif3b	kinesin family member 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306815	Kif3b	kinesin family member 3B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306815	Kif3b	kinesin family member 3B	gene	DOID:8501	fundus dystrophy		ISO	RGD:1315643	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1306815	Kif3b	kinesin family member 3B	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:11049594|PMID:23093447	20160411	RGD		protein:increased expression:spinal cord	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315645	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:0060472	Kindler syndrome		ISO	RGD:1315645	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:0060472	Kindler syndrome		ISO	RGD:1315645	D	RGD:7240710	20190315	OMIM			
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:0060472	Kindler syndrome		ISO	RGD:1315645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: KINDLER SYNDROME | ClinVar Annotator: match by term: Kindler syndrome | ClinVar Annotator: match by term: Kindler's syndrome	PMID:12789646|PMID:14507403|PMID:14962093|PMID:15313809|PMID:16199547|PMID:16675959|PMID:16702500|PMID:17178989|PMID:17460733|PMID:17916195|PMID:18528435|PMID:19292718|PMID:19762715|PMID:20938162|PMID:21336475|PMID:21936020|PMID:22220914|PMID:22466645|PMID:24346923|PMID:24635075|PMID:24635080|PMID:25156791|PMID:25437880|PMID:25599393|PMID:25741868|PMID:26937547|PMID:27293055|PMID:27862150|PMID:28492532|PMID:29130490|PMID:29453417|PMID:30838128|PMID:31340837|PMID:31957900
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:0060472	Kindler syndrome		ISS	RGD:1315646	D	RGD:13592920	20230718	MouseDO		OMIM:173650	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:11830	myopia		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:1272	telangiectasis		ISO	RGD:1315645	D	RGD:1600405|PMID:12668616	20070307	RGD		Kindler syndrome, OMIM:173650	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:1324	lung cancer		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:2731	vesiculobullous skin disease		ISO	RGD:1315645	D	RGD:1600405|PMID:12668616	20070307	RGD		Kindler syndrome, OMIM:173650	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:3275	thymoma		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:630	genetic disease		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:9003228	Tooth Loss		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth loss	PMID:14962093|PMID:17916195|PMID:21936020|PMID:22466645|PMID:24346923|PMID:25741868|PMID:27293055|PMID:28492532|PMID:30838128|PMID:31340837|PMID:31957900
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:9004462	Atrophy		ISO	RGD:1315645	D	RGD:1600405|PMID:12668616	20070307	RGD		Kindler syndrome, OMIM:173650	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:9006976	Erythema		ISO	RGD:1315645	D	RGD:1600405|PMID:12668616	20070307	RGD		Kindler syndrome, OMIM:173650	
1306816	Fermt1	FERM domain containing kindlin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306817	Zfp516	zinc finger protein 516	gene	DOID:1059	intellectual disability		ISO	RGD:1343458	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1306817	Zfp516	zinc finger protein 516	gene	DOID:1324	lung cancer		ISO	RGD:1343458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306817	Zfp516	zinc finger protein 516	gene	DOID:1909	melanoma		ISO	RGD:1343458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306817	Zfp516	zinc finger protein 516	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306817	Zfp516	zinc finger protein 516	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1343458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306817	Zfp516	zinc finger protein 516	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306817	Zfp516	zinc finger protein 516	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306818	Slc66a3	solute carrier family 66 member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306818	Slc66a3	solute carrier family 66 member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306818	Slc66a3	solute carrier family 66 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1315648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306818	Slc66a3	solute carrier family 66 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1315648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306818	Slc66a3	solute carrier family 66 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306818	Slc66a3	solute carrier family 66 member 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315648	D	RGD:11554173	20230404	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306818	Slc66a3	solute carrier family 66 member 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306818	Slc66a3	solute carrier family 66 member 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1315648	D	RGD:11554173	20230404	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030
1306819	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306819	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:630	genetic disease		ISO	RGD:1602115	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306819	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1602115	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
1306819	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:9005516	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1		ISO	RGD:1602115	D	RGD:7240710	20170405	OMIM			
1306819	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:9005516	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1		ISO	RGD:1602115	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 1 | ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | ClinVar Annotator: match by term: PTRH2-related condition | ClinVar Annotator: match by term: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	PMID:25741868|PMID:28492532
1306819	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:9006461	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease		ISO	RGD:1602115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	
1306819	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1602115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
1306819	Ptrh2	peptidyl-tRNA hydrolase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306820	Edrf1	erythroid differentiation regulatory factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1306821	Myh14	myosin heavy chain 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306821	Myh14	myosin heavy chain 14	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:1315652	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss	PMID:15015131|PMID:15845534|PMID:25741868
1306821	Myh14	myosin heavy chain 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306821	Myh14	myosin heavy chain 14	gene	DOID:0110573	autosomal dominant nonsyndromic deafness 4A		ISO	RGD:1315652	D	RGD:7240710	20130221	OMIM			
1306821	Myh14	myosin heavy chain 14	gene	DOID:0110573	autosomal dominant nonsyndromic deafness 4A		ISO	RGD:1315652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition	PMID:15015131|PMID:16222661|PMID:20533261|PMID:23804846|PMID:24033266|PMID:24082139|PMID:25741868|PMID:26284702|PMID:26467025|PMID:27068579|PMID:27610647|PMID:28166811|PMID:28221712|PMID:28492532|PMID:31393079|PMID:34193129|PMID:34681017
1306821	Myh14	myosin heavy chain 14	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315652	D	RGD:1600531|PMID:15015131	20070313	RGD		DFNA4, OMIM:600652, DNA:point mutation:exon:S7X	
1306821	Myh14	myosin heavy chain 14	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315652	D	RGD:8554872	20170207	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1306821	Myh14	myosin heavy chain 14	gene	DOID:10534	stomach cancer		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306821	Myh14	myosin heavy chain 14	gene	DOID:1059	intellectual disability		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28166811|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1315652	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
1306821	Myh14	myosin heavy chain 14	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28166811|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306821	Myh14	myosin heavy chain 14	gene	DOID:12849	autistic disorder		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28166811|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:1324	lung cancer		ISO	RGD:1315652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:1389	polyneuropathy		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor polyneuropathy	PMID:25741868
1306821	Myh14	myosin heavy chain 14	gene	DOID:14679	VACTERL association		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: VATER association	
1306821	Myh14	myosin heavy chain 14	gene	DOID:1826	epilepsy		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28166811|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:1909	melanoma		ISO	RGD:1315652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:3070	high grade glioma		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:3275	thymoma		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306821	Myh14	myosin heavy chain 14	gene	DOID:4362	cervical cancer		ISO	RGD:1315652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1315652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:630	genetic disease		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31045651
1306821	Myh14	myosin heavy chain 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:7319	axonal neuropathy		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:25741868
1306821	Myh14	myosin heavy chain 14	gene	DOID:870	neuropathy		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
1306821	Myh14	myosin heavy chain 14	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315652	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1306821	Myh14	myosin heavy chain 14	gene	DOID:9002779	Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss		ISO	RGD:1315652	D	RGD:7240710	20140911	OMIM			
1306821	Myh14	myosin heavy chain 14	gene	DOID:9002779	Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss		ISO	RGD:1315652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss | ClinVar Annotator: match by term: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	PMID:15015131|PMID:21480433|PMID:24033266|PMID:25741868|PMID:26257172|PMID:26346818|PMID:27068579|PMID:27875632|PMID:27911912|PMID:28492532|PMID:31231018|PMID:31393079|PMID:35274842
1306821	Myh14	myosin heavy chain 14	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315652	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:24033266|PMID:25741868|PMID:27393652|PMID:28492532|PMID:30311386
1306821	Myh14	myosin heavy chain 14	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315652	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:24033266|PMID:25741868|PMID:27393652|PMID:28492532|PMID:29293505|PMID:30311386
1306821	Myh14	myosin heavy chain 14	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:30311386
1306821	Myh14	myosin heavy chain 14	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:9005230	Autosomal Dominant Deafness 4		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 4	PMID:25741868
1306821	Myh14	myosin heavy chain 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306821	Myh14	myosin heavy chain 14	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28166811|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:9256	colorectal cancer		ISO	RGD:1315652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1306821	Myh14	myosin heavy chain 14	gene	DOID:9849	Meniere's disease		ISO	RGD:1315652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ménière's disease	PMID:24033266|PMID:25741868|PMID:27610647|PMID:28492532|PMID:34681017
1306822	Carf	calcium responsive transcription factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306822	Carf	calcium responsive transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306822	Carf	calcium responsive transcription factor	gene	DOID:10534	stomach cancer		ISO	RGD:1315654	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306822	Carf	calcium responsive transcription factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306822	Carf	calcium responsive transcription factor	gene	DOID:1324	lung cancer		ISO	RGD:1315654	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306822	Carf	calcium responsive transcription factor	gene	DOID:1909	melanoma		ISO	RGD:1315654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306822	Carf	calcium responsive transcription factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306822	Carf	calcium responsive transcription factor	gene	DOID:3275	thymoma		ISO	RGD:1315654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306822	Carf	calcium responsive transcription factor	gene	DOID:3393	coronary artery disease		ISO	RGD:1315654	D	RGD:11554173	20220308	CTD		CTD Direct Evidence: marker/mechanism	PMID:34961328
1306822	Carf	calcium responsive transcription factor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306822	Carf	calcium responsive transcription factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1315654	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306822	Carf	calcium responsive transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306822	Carf	calcium responsive transcription factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306822	Carf	calcium responsive transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:0050581	brachydactyly		ISO	RGD:1603397	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:27040692|PMID:28191891|PMID:28331220|PMID:28492532|PMID:31407851|PMID:37823350
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:0051070	Meier-Gorlin syndrome 10		ISO	RGD:1603397	D	RGD:7240710	20260408	OMIM			
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:0051070	Meier-Gorlin syndrome 10		ISO	RGD:1603397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 10	PMID:25741868|PMID:31784481
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:0060306	Meier-Gorlin syndrome		ISO	RGD:1603397	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Meier-Gorlin syndrome	PMID:25741868|PMID:28492532|PMID:31407851|PMID:31784481|PMID:37638758
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:0080512	Meier-Gorlin syndrome 1		ISO	RGD:1603397	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Meier-Gorlin syndrome 1	PMID:25741868|PMID:28191891|PMID:28492532|PMID:28630177
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:0081431	microcephaly, short stature, and limb abnormalities		ISO	RGD:1603397	D	RGD:7240710	20190315	OMIM			
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:0081431	microcephaly, short stature, and limb abnormalities		ISO	RGD:1603397	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: DONSON-related condition | ClinVar Annotator: match by term: DONSON-related microcephaly-short stature-limb abnormalities spectrum | ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES | ClinVar Annotator: match by term: Microcephaly, short stature, and limb abnormalities | ClinVar Annotator: match by term: microcephaly, short stature, and limb abnormalities	PMID:25741868|PMID:27040692|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851|PMID:31785789|PMID:33057194|PMID:35982159|PMID:37644014|PMID:37823350
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:0081432	microcephaly-micromelia syndrome		ISO	RGD:1603397	D	RGD:7240710	20200923	OMIM			
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:0081432	microcephaly-micromelia syndrome		ISO	RGD:1603397	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY-MICROMELIA SYNDROME | ClinVar Annotator: match by term: Microcephaly-micromelia syndrome	PMID:25741868|PMID:27040692|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851|PMID:34645488|PMID:37823350
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:10534	stomach cancer		ISO	RGD:1603397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:1059	intellectual disability		ISO	RGD:1603397	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:31407851
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:1059	intellectual disability		ISO	RGD:1603397	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27040692|PMID:28191891|PMID:28331220|PMID:28492532|PMID:31407851|PMID:37823350
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:10907	microcephaly		ISO	RGD:1603397	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191891
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:10907	microcephaly		ISO	RGD:1603397	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27040692|PMID:28191891|PMID:28331220|PMID:28492532|PMID:31407851|PMID:37823350
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:1324	lung cancer		ISO	RGD:1603397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:1826	epilepsy		ISO	RGD:1603397	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27040692|PMID:28191891|PMID:28331220|PMID:28492532|PMID:31407851|PMID:37823350
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:630	genetic disease		ISO	RGD:1603397	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27040692|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851|PMID:37823350
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1603397	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:27040692|PMID:28191891|PMID:28331220|PMID:28492532|PMID:31407851|PMID:37823350
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:9007661	Dwarfism		ISO	RGD:1603397	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191891
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:9007661	Dwarfism		ISO	RGD:1603397	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:27040692|PMID:28191891|PMID:28331220|PMID:28492532|PMID:31407851|PMID:37823350
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1603397	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306823	Donson	DNA replication fork stabilization factor DONSON	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306824	Zfp608	zinc finger protein 608	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306824	Zfp608	zinc finger protein 608	gene	DOID:0060058	lymphoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306824	Zfp608	zinc finger protein 608	gene	DOID:10534	stomach cancer		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306824	Zfp608	zinc finger protein 608	gene	DOID:1909	melanoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306824	Zfp608	zinc finger protein 608	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306824	Zfp608	zinc finger protein 608	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306824	Zfp608	zinc finger protein 608	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306824	Zfp608	zinc finger protein 608	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306824	Zfp608	zinc finger protein 608	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306824	Zfp608	zinc finger protein 608	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306827	Agbl2	AGBL carboxypeptidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306827	Agbl2	AGBL carboxypeptidase 2	gene	DOID:1324	lung cancer		ISO	RGD:1602682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306827	Agbl2	AGBL carboxypeptidase 2	gene	DOID:1826	epilepsy		ISO	RGD:1602682	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: epilepsy	PMID:25741868|PMID:26539891
1306827	Agbl2	AGBL carboxypeptidase 2	gene	DOID:1909	melanoma		ISO	RGD:1602682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306827	Agbl2	AGBL carboxypeptidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602682	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306827	Agbl2	AGBL carboxypeptidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306827	Agbl2	AGBL carboxypeptidase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306827	Agbl2	AGBL carboxypeptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306827	Agbl2	AGBL carboxypeptidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306828	C1qc	complement C1q C chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1306828	C1qc	complement C1q C chain	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1315664	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
1306828	C1qc	complement C1q C chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1306828	C1qc	complement C1q C chain	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:1315664	D	RGD:11554173	20221004	CTD		CTD Direct Evidence: marker/mechanism	PMID:35789393
1306828	C1qc	complement C1q C chain	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1315664	D	RGD:11554173	20221004	CTD		CTD Direct Evidence: marker/mechanism	PMID:35789393
1306828	C1qc	complement C1q C chain	gene	DOID:0080600	COVID-19		ISO	RGD:1315664	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306828	C1qc	complement C1q C chain	gene	DOID:1115	sarcoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1306828	C1qc	complement C1q C chain	gene	DOID:1324	lung cancer		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1306828	C1qc	complement C1q C chain	gene	DOID:1883	hepatitis C		ISO	RGD:1315664	D	RGD:11554173	20221004	CTD		CTD Direct Evidence: marker/mechanism	PMID:35789393
1306828	C1qc	complement C1q C chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
1306828	C1qc	complement C1q C chain	gene	DOID:3275	thymoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1306828	C1qc	complement C1q C chain	gene	DOID:4362	cervical cancer		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1306828	C1qc	complement C1q C chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1306828	C1qc	complement C1q C chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1315664	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1306828	C1qc	complement C1q C chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1306828	C1qc	complement C1q C chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1306828	C1qc	complement C1q C chain	gene	DOID:630	genetic disease		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306828	C1qc	complement C1q C chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315664	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306828	C1qc	complement C1q C chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1306828	C1qc	complement C1q C chain	gene	DOID:9007516	C1q Deficiency		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: C1Q DEFICIENCY | ClinVar Annotator: match by term: C1Q deficiency	PMID:20635792|PMID:21654842|PMID:25741868|PMID:28082982|PMID:28492532|PMID:30008451|PMID:31357913|PMID:7900940|PMID:8630118
1306828	C1qc	complement C1q C chain	gene	DOID:9007652	C1q Deficiency 3		ISO	RGD:1315664	D	RGD:7240710	20230505	OMIM			
1306828	C1qc	complement C1q C chain	gene	DOID:9007652	C1q Deficiency 3		ISO	RGD:1315664	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: C1Q DEFICIENCY 3 | ClinVar Annotator: match by term: C1QC-related condition	PMID:24157463|PMID:28492532|PMID:8630118
1306828	C1qc	complement C1q C chain	gene	DOID:9007806	Drug Hypersensitivity Syndrome		ISO	RGD:1315664	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:0070400	hypomyelinating leukodystrophy 19		ISO	RGD:1605419	D	RGD:7240710	20191225	OMIM			
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:0070400	hypomyelinating leukodystrophy 19		ISO	RGD:1605419	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 19, transient infantile | ClinVar Annotator: match by term: TMEM63A-related condition	PMID:25741868|PMID:30382939|PMID:31587869|PMID:34598833
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:10534	stomach cancer		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:1115	sarcoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:1324	lung cancer		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:1909	melanoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:4362	cervical cancer		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:5041	esophageal cancer		ISO	RGD:1605419	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:5723	optic atrophy		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:31587869
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:630	genetic disease		ISO	RGD:1605419	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1605419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:9000918	Disease Progression		ISO	RGD:1605419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306829	Tmem63a	transmembrane protein 63a	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306830	Gpr33-ps1	G protein-coupled receptor 33, pseudogene 1	gene	DOID:9001254	Epidermolysis Bullosa Simplex 5D with Nail Dystrophy		ISO	RGD:1351733	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:0060354	Stormorken syndrome		ISO	RGD:1315668	D	RGD:7240710	20141015	OMIM			
1306831	Stim1	stromal interaction molecule 1	gene	DOID:0060354	Stormorken syndrome		ISO	RGD:1315668	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS	PMID:17576681|PMID:24033266|PMID:24591628|PMID:24619930|PMID:25044882|PMID:25577287|PMID:25741868|PMID:25953320|PMID:26436962|PMID:27479822|PMID:28492532|PMID:28624464|PMID:9536098
1306831	Stim1	stromal interaction molecule 1	gene	DOID:0060354	Stormorken syndrome		ISS	RGD:1315669	D	RGD:13592920	20240509	MouseDO		OMIM:185070	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:0080089	tubular aggregate myopathy 1		ISO	RGD:1315668	D	RGD:7240710	20190315	OMIM			
1306831	Stim1	stromal interaction molecule 1	gene	DOID:0080089	tubular aggregate myopathy 1		ISO	RGD:1315668	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MYOPATHY, TUBULAR AGGREGATE, 1 | ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1	PMID:23332920|PMID:24033266|PMID:25326555|PMID:25741868|PMID:27479822|PMID:27876257|PMID:28492532
1306831	Stim1	stromal interaction molecule 1	gene	DOID:0080089	tubular aggregate myopathy 1		ISS	RGD:1315669	D	RGD:13592920	20230718	MouseDO		OMIM:160565	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:0111970	immunodeficiency 10		ISO	RGD:1315668	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:0111970	immunodeficiency 10		ISO	RGD:1315668	D	RGD:7240710	20130221	OMIM			
1306831	Stim1	stromal interaction molecule 1	gene	DOID:0111970	immunodeficiency 10		ISO	RGD:1315668	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10	PMID:16199547|PMID:17576681|PMID:19420366|PMID:20876309|PMID:22190180|PMID:23332920|PMID:23851458|PMID:24033266|PMID:24492416|PMID:24570283|PMID:24621671|PMID:25326555|PMID:25640679|PMID:25741868|PMID:25918394|PMID:25953320|PMID:26184105|PMID:26255678|PMID:27066587|PMID:27239559|PMID:27479822|PMID:28492532|PMID:28624464|PMID:29237733|PMID:31844136|PMID:32098964|PMID:32893083|PMID:33057194|PMID:33628209|PMID:34368974|PMID:34498097|PMID:35724962|PMID:35982159|PMID:9536098
1306831	Stim1	stromal interaction molecule 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1315668	D	RGD:152995363|PMID:27035326	20220615	RGD		protein:increased expression:stomach (human)	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:10763	hypertension		ISO	RGD:1315668	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19897708
1306831	Stim1	stromal interaction molecule 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:1115	sarcoma		ISO	RGD:1315668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1306831	Stim1	stromal interaction molecule 1	gene	DOID:12387	nephrogenic diabetes insipidus		IAGP		D	RGD:150429659|PMID:26574044	20210914	RGD		DNA:missense mutation:cds:premature stop codon	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:1324	lung cancer		ISO	RGD:1315668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1315668	D	RGD:152995356|PMID:27863410	20220615	RGD		human cells in mouse model	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1315668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28492532
1306831	Stim1	stromal interaction molecule 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:3748	esophagus squamous cell carcinoma	exacerbates	ISO	RGD:1315668	D	RGD:9068941	20220616	RGD		protein:increased expression:esophagus (human)	PMID:31843504|REF_RGD_ID:152995393
1306831	Stim1	stromal interaction molecule 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1315668	D	RGD:152995359|PMID:32184656	20220615	RGD		mRNA:increased expression:blood plasma (human)	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1315668	D	RGD:11554173	20180724	CTD		CTD Direct Evidence: marker/mechanism	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:423	myopathy		ISO	RGD:1315668	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: myopathy	PMID:25741868|PMID:28492532|PMID:33468626
1306831	Stim1	stromal interaction molecule 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1306831	Stim1	stromal interaction molecule 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315668	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1306831	Stim1	stromal interaction molecule 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1306831	Stim1	stromal interaction molecule 1	gene	DOID:630	genetic disease		ISO	RGD:1315668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25326555|PMID:25741868|PMID:28492532
1306831	Stim1	stromal interaction molecule 1	gene	DOID:6364	migraine		ISO	RGD:1315668	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868
1306831	Stim1	stromal interaction molecule 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1315668	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1306831	Stim1	stromal interaction molecule 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315668	D	RGD:152995401|PMID:23211538	20220616	RGD		mRNA:increased expression:liver (human)	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:9000965	Neoplasm Metastasis	ameliorates	ISO	RGD:1315668	D	RGD:152995357|PMID:28713917	20220615	RGD		human cells in mouse model;associated with lung cancer	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:9000965	Neoplasm Metastasis	ameliorates	ISO	RGD:1315668	D	RGD:152995361|PMID:32165272	20220615	RGD		associated with nasopharynx carcinoma; human cells in mouse model	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:9000965	Neoplasm Metastasis	exacerbates	ISO	RGD:1315668	D	RGD:152995387|PMID:32483465	20220616	RGD		associated with hepatocellular carcinoma;protein:decreased expression:liver (human)	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:1315668	D	RGD:152995400|PMID:27431311	20220616	RGD		associated with stomach cancer; human cells in mouse model	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:9002092	Tubular Aggregate Myopathies		ISO	RGD:1315668	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopathy with tubular aggregates | ClinVar Annotator: match by term: Tubular Aggregate Myopathy	PMID:17576681|PMID:19420366|PMID:20876309|PMID:24033266|PMID:25741868|PMID:25953320|PMID:27479822|PMID:28492532|PMID:28624464|PMID:31448844|PMID:9536098
1306831	Stim1	stromal interaction molecule 1	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1315668	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27863410
1306831	Stim1	stromal interaction molecule 1	gene	DOID:9002514	Neointima	ameliorates	IMP		D	RGD:151893459|PMID:19107116	20220420	RGD			
1306831	Stim1	stromal interaction molecule 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1315668	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27863410
1306831	Stim1	stromal interaction molecule 1	gene	DOID:9005189	Vacuolar Myopathy		ISO	RGD:1315668	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Myopathy, autophagic vacuolar, infantile-onset	PMID:25741868
1306831	Stim1	stromal interaction molecule 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1306831	Stim1	stromal interaction molecule 1	gene	DOID:9253	gastrointestinal stromal tumor	ameliorates	ISO	RGD:1315668	D	RGD:152995399|PMID:29957833	20220616	RGD		human cells in mouse model	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1315668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306831	Stim1	stromal interaction molecule 1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1315668	D	RGD:9068941	20220616	RGD		mRNA,protein:increased expression:colorectum (human)	PMID:25381814|PMID:25531324|REF_RGD_ID:152995364|REF_RGD_ID:152995402
1306831	Stim1	stromal interaction molecule 1	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1315668	D	RGD:152995405|PMID:33470690	20220617	RGD		DNA:SNPs:intron, 3'utr: (rs3794050,rs7934581,rs3750996) (human)	
1306832	Rfc3	replication factor C subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1315670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306832	Rfc3	replication factor C subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1315670	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306832	Rfc3	replication factor C subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306832	Rfc3	replication factor C subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306832	Rfc3	replication factor C subunit 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306832	Rfc3	replication factor C subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315674	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:1909	melanoma		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:630	genetic disease		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28633435|PMID:29982295|PMID:32202298
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:870	neuropathy		ISO	RGD:1315674	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:28492532
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:9002421	Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development		ISO	RGD:1315674	D	RGD:7240710	20190315	OMIM			
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:9002421	Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development		ISO	RGD:1315674	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MCM3AP-related condition | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28633435|PMID:29982295|PMID:32202298|PMID:9536098
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306834	Mcm3ap	minichromosome maintenance complex component 3 associated protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1315674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:0060249	scoliosis		ISO	RGD:1315676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:22128245|PMID:23847139|PMID:26321862|PMID:26496393|PMID:28492532|PMID:7493036
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1315676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:22128245|PMID:23847139|PMID:26321862|PMID:26496393|PMID:28492532|PMID:7493036
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:0080073	spina bifida occulta		ISO	RGD:1315676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	PMID:22128245|PMID:23847139|PMID:26321862|PMID:26496393|PMID:28492532|PMID:7493036
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:1315676	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 40	PMID:16199547|PMID:22128245|PMID:23847139|PMID:28492532|PMID:31964843|PMID:33057649|PMID:35533076|PMID:7493036
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:0110379	retinitis pigmentosa 43		ISO	RGD:1315676	D	RGD:7240710	20140911	OMIM			
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:0110379	retinitis pigmentosa 43		ISO	RGD:1315676	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PDE6A-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 43 | ClinVar Annotator: match by term: Retinitis pigmentosa 43	PMID:16199547|PMID:17110911|PMID:17576681|PMID:22128245|PMID:23847139|PMID:25741868|PMID:26188004|PMID:26321862|PMID:27551530|PMID:28492532|PMID:30029497|PMID:31144483|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:33946315|PMID:34327195|PMID:34906470|PMID:35533076|PMID:36729443|PMID:36819107|PMID:37217489|PMID:7493036|PMID:9536098
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1315676	D	RGD:11554173	20200211	CTD		CTD Direct Evidence: marker/mechanism	PMID:7493036|PMID:21039428|PMID:27551530
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1315676	D	RGD:8547535|PMID:23701314	20140217	RGD			
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1315676	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:7493036
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1315676	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:7493036
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1315676	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25182519|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:34906470|PMID:35533076|PMID:36819107|PMID:36909829|PMID:7493036
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1315676	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25182519|PMID:25525159|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27884173|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30902645|PMID:30998820|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:3196484|PMID:31964843|PMID:32037395|PMID:32531858|PMID:32579692|PMID:32581362|PMID:33057649|PMID:33090715|PMID:33576794|PMID:33749171|PMID:33946315|PMID:34057927|PMID:34426522|PMID:34906470|PMID:35533076|PMID:36140798|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:7493036
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1315676	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:22128245|PMID:23847139|PMID:24265693|PMID:25182519|PMID:25741868|PMID:26188004|PMID:26261414|PMID:26306921|PMID:26806561|PMID:27551530|PMID:28492532|PMID:29118501|PMID:29693493|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30902645|PMID:31213501|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31964843|PMID:32037395|PMID:32531858|PMID:32581362|PMID:33057649|PMID:33090715|PMID:33946315|PMID:34906470|PMID:36284460|PMID:36909829|PMID:7493036
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:10584	retinitis pigmentosa		ISS	RGD:1315677	D	RGD:13592920	20230718	MouseDO			
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1315676	D	RGD:8554872	20171212	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315676	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:630	genetic disease		ISO	RGD:1315676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22128245|PMID:23847139|PMID:26321862|PMID:26496393|PMID:28492532|PMID:7493036
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:8501	fundus dystrophy		ISO	RGD:1315676	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10393062|PMID:16199547|PMID:17576681|PMID:22128245|PMID:23847139|PMID:24265693|PMID:25525159|PMID:25741868|PMID:25775262|PMID:26806561|PMID:27208204|PMID:27820873|PMID:27917291|PMID:28492532|PMID:29343940|PMID:29693493|PMID:30543658|PMID:30685614|PMID:30718709|PMID:30998820|PMID:31429209|PMID:31736247|PMID:31872526|PMID:31964843|PMID:32037395|PMID:33057649|PMID:33691693|PMID:34426522|PMID:34906470|PMID:35533076|PMID:36460718|PMID:36819107|PMID:7493036|PMID:9536098
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:870	neuropathy		ISO	RGD:1315676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:22128245|PMID:23847139|PMID:26321862|PMID:26496393|PMID:28492532|PMID:7493036
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:22128245|PMID:23847139|PMID:26321862|PMID:26496393|PMID:28492532|PMID:7493036
1306835	Pde6a	phosphodiesterase 6A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306836	Rnf217	ring finger protein 217	gene	DOID:10534	stomach cancer		ISO	RGD:1315678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306836	Rnf217	ring finger protein 217	gene	DOID:1115	sarcoma		ISO	RGD:1315678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306836	Rnf217	ring finger protein 217	gene	DOID:2377	multiple sclerosis		ISO	RGD:1315678	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to	
1306836	Rnf217	ring finger protein 217	gene	DOID:5041	esophageal cancer		ISO	RGD:1315678	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:0070183	spermatogenic failure 5		ISO	RGD:1315679	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder	PMID:25741868
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:0111428	essential tremor 1		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:28492532
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:0112177	Mayer-Rokitansky-Kuster-Hauser syndrome		ISO	RGD:1315679	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aplasia of the uterus	PMID:25741868
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1315679	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:10534	stomach cancer		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28492532
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:1115	sarcoma		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:13938	amenorrhea		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:25741868
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:1826	epilepsy		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:1909	melanoma		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:1923	disorder of sexual development		ISO	RGD:1315679	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:25741868
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:5041	esophageal cancer		ISO	RGD:1315679	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:630	genetic disease		ISO	RGD:1315679	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31256877|PMID:31337883
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:9000053	Headache		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:28492532
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:9002794	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES		ISO	RGD:1315679	D	RGD:7240710	20200226	OMIM			
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:9002794	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES		ISO	RGD:1315679	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: DHX37-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | ClinVar Annotator: match by term: neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	PMID:25741868|PMID:26539891|PMID:28492532|PMID:31256877|PMID:31287541|PMID:31337883|PMID:37240737
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315679	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorders	PMID:26539891|PMID:28492532|PMID:31256877
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315679	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorders	PMID:26539891|PMID:28492532|PMID:31256877|PMID:35134971|PMID:37240737
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:9008502	Anorchia		ISO	RGD:1315679	D	RGD:7240710	20200429	OMIM			
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:9008502	Anorchia		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC | ClinVar Annotator: match by term: Testicular regression syndrome	PMID:25741868|PMID:26539891|PMID:28492532
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:9009441	46,XY sex reversal 11		ISO	RGD:1315679	D	RGD:7240710	20260812	OMIM			
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:9009441	46,XY sex reversal 11		ISO	RGD:1315679	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 46,XY SEX REVERSAL 11 | ClinVar Annotator: match by term: 46,XY sex reversal 11	PMID:25741868|PMID:26539891|PMID:28492532|PMID:30582406|PMID:31287541|PMID:31337883|PMID:31745530|PMID:37240737
1306837	Dhx37	DEAH-box helicase 37	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306838	Trip4	thyroid hormone receptor interactor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306838	Trip4	thyroid hormone receptor interactor 4	gene	DOID:14717	centronuclear myopathy		ISO	RGD:1315680	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Centronuclear myopathy	PMID:25741868|PMID:31794073
1306838	Trip4	thyroid hormone receptor interactor 4	gene	DOID:1909	melanoma		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306838	Trip4	thyroid hormone receptor interactor 4	gene	DOID:3275	thymoma		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306838	Trip4	thyroid hormone receptor interactor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306838	Trip4	thyroid hormone receptor interactor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306838	Trip4	thyroid hormone receptor interactor 4	gene	DOID:630	genetic disease		ISO	RGD:1315680	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306838	Trip4	thyroid hormone receptor interactor 4	gene	DOID:9006286	Congenital Muscular Dystrophy, Davignon-Chauveau Type		ISO	RGD:1315680	D	RGD:7240710	20190315	OMIM			
1306838	Trip4	thyroid hormone receptor interactor 4	gene	DOID:9006286	Congenital Muscular Dystrophy, Davignon-Chauveau Type		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type | ClinVar Annotator: match by term: TRIP4-Related Disorders	PMID:16199547|PMID:25741868|PMID:26924529|PMID:27008887|PMID:28492532|PMID:35372177
1306838	Trip4	thyroid hormone receptor interactor 4	gene	DOID:9007140	Spinal Muscular Atrophy with Congenital Bone Fractures 1		ISO	RGD:1315680	D	RGD:7240710	20190315	OMIM			
1306838	Trip4	thyroid hormone receptor interactor 4	gene	DOID:9007140	Spinal Muscular Atrophy with Congenital Bone Fractures 1		ISO	RGD:1315680	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 | ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1 | ClinVar Annotator: match by term: TRIP4-related condition	PMID:25741868|PMID:26924529|PMID:27008887|PMID:28492532|PMID:35276412
1306838	Trip4	thyroid hormone receptor interactor 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1306838	Trip4	thyroid hormone receptor interactor 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306839	Plgrkt	plasminogen receptor with a C-terminal lysine	gene	DOID:3070	high grade glioma		ISO	RGD:1315681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306839	Plgrkt	plasminogen receptor with a C-terminal lysine	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315681	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306839	Plgrkt	plasminogen receptor with a C-terminal lysine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306839	Plgrkt	plasminogen receptor with a C-terminal lysine	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306839	Plgrkt	plasminogen receptor with a C-terminal lysine	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306840	Slc22a13	solute carrier family 22 member 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306841	Ints11	integrator complex subunit 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306841	Ints11	integrator complex subunit 11	gene	DOID:0081387	neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities		ISO	RGD:1603031	D	RGD:7240710	20230719	OMIM			
1306841	Ints11	integrator complex subunit 11	gene	DOID:0081387	neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities		ISO	RGD:1603031	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	PMID:25741868|PMID:37054711
1306841	Ints11	integrator complex subunit 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306841	Ints11	integrator complex subunit 11	gene	DOID:1115	sarcoma		ISO	RGD:1603031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306841	Ints11	integrator complex subunit 11	gene	DOID:1324	lung cancer		ISO	RGD:1603031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306841	Ints11	integrator complex subunit 11	gene	DOID:1909	melanoma		ISO	RGD:1603031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306841	Ints11	integrator complex subunit 11	gene	DOID:4362	cervical cancer		ISO	RGD:1603031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306841	Ints11	integrator complex subunit 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306841	Ints11	integrator complex subunit 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306841	Ints11	integrator complex subunit 11	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603031	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
1306841	Ints11	integrator complex subunit 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306841	Ints11	integrator complex subunit 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306842	Ca7	carbonic anhydrase 7	gene	DOID:1909	melanoma		ISO	RGD:1315686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306842	Ca7	carbonic anhydrase 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306844	Retreg2	reticulophagy regulator family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306844	Retreg2	reticulophagy regulator family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306844	Retreg2	reticulophagy regulator family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306844	Retreg2	reticulophagy regulator family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1315689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306844	Retreg2	reticulophagy regulator family member 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1315689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306844	Retreg2	reticulophagy regulator family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306844	Retreg2	reticulophagy regulator family member 2	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1315689	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1306844	Retreg2	reticulophagy regulator family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315689	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306844	Retreg2	reticulophagy regulator family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306844	Retreg2	reticulophagy regulator family member 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306844	Retreg2	reticulophagy regulator family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306844	Retreg2	reticulophagy regulator family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306846	Bloc1s5	biogenesis of lysosomal organelles complex 1 subunit 5	gene	DOID:0061301	Hermansky-Pudlak syndrome 11		ISO	RGD:1315693	D	RGD:7240710	20210203	OMIM			
1306846	Bloc1s5	biogenesis of lysosomal organelles complex 1 subunit 5	gene	DOID:0061301	Hermansky-Pudlak syndrome 11		ISO	RGD:1315693	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HERMANSKY-PUDLAK SYNDROME 11	
1306846	Bloc1s5	biogenesis of lysosomal organelles complex 1 subunit 5	gene	DOID:2223	platelet storage pool deficiency		ISS	RGD:1315694	D	RGD:13592920	20180518	MouseDO		OMIM:185050	
1306846	Bloc1s5	biogenesis of lysosomal organelles complex 1 subunit 5	gene	DOID:3753	Hermansky-Pudlak syndrome		ISS	RGD:1315694	D	RGD:13592920	20180518	MouseDO			
1306846	Bloc1s5	biogenesis of lysosomal organelles complex 1 subunit 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306847	Akr1c1	aldo-keto reductase family 1, member C1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1315695	D	RGD:11554173	20211116	CTD		CTD Direct Evidence: marker/mechanism	PMID:22381227
1306847	Akr1c1	aldo-keto reductase family 1, member C1	gene	DOID:1923	disorder of sexual development		ISO	RGD:1315695	D	RGD:11554173	20211116	CTD		CTD Direct Evidence: marker/mechanism	PMID:25304492
1306847	Akr1c1	aldo-keto reductase family 1, member C1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306847	Akr1c1	aldo-keto reductase family 1, member C1	gene	DOID:289	endometriosis		ISO	RGD:1315695	D	RGD:11554173	20211116	CTD		CTD Direct Evidence: marker/mechanism	PMID:21232532
1306847	Akr1c1	aldo-keto reductase family 1, member C1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1315695	D	RGD:11554173	20211116	CTD		CTD Direct Evidence: marker/mechanism	PMID:17094902
1306847	Akr1c1	aldo-keto reductase family 1, member C1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306847	Akr1c1	aldo-keto reductase family 1, member C1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306847	Akr1c1	aldo-keto reductase family 1, member C1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306847	Akr1c1	aldo-keto reductase family 1, member C1	gene	DOID:8398	osteoarthritis		ISO	RGD:1315695	D	RGD:11554173	20211116	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1306847	Akr1c1	aldo-keto reductase family 1, member C1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315695	D	RGD:11554173	20211116	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306847	Akr1c1	aldo-keto reductase family 1, member C1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1315695	D	RGD:11554173	20211116	CTD		CTD Direct Evidence: marker/mechanism	PMID:19696165
1306847	Akr1c1	aldo-keto reductase family 1, member C1	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1315695	D	RGD:11554173	20211116	CTD		CTD Direct Evidence: marker/mechanism	PMID:16338060
1306847	Akr1c1	aldo-keto reductase family 1, member C1	gene	DOID:9008046	Neoplasms, Hormone-Dependent		ISO	RGD:1315695	D	RGD:11554173	20211116	CTD		CTD Direct Evidence: marker/mechanism	PMID:25304492
1306847	Akr1c1	aldo-keto reductase family 1, member C1	gene	DOID:9970	obesity		ISO	RGD:1347108	D	RGD:1626148|PMID:15494612	20070716	RGD		mRNA, protein:increased expression:adipose tissue	
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:0060108	brain glioma	susceptibility	ISO	RGD:1315699	D	RGD:401827274|PMID:18330515	20230927	RGD		DNA:SNP:exon 8: p.T241M (rs861539) (Human)	
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1315699	D	RGD:9068941	20230928	RGD		DNA:SNP,haplotype:cd: p.T241M (rs861539) (human)	PMID:25529925|REF_RGD_ID:401827819
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:1115	sarcoma		ISO	RGD:1315699	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:1612	breast cancer		ISO	RGD:1315699	D	RGD:7240710	20260805	OMIM			
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:1793	pancreatic cancer		ISO	RGD:1315699	D	RGD:2317130|PMID:18559563	20100415	RGD		DNA:SNP:cd:rs861539 (human)	
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:1909	melanoma		ISO	RGD:1315699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11059748
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:1909	melanoma		ISO	RGD:1315699	D	RGD:1331525|PMID:15118671	19990101	GAD			
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1315699	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1315699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16501254
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:3070	high grade glioma	susceptibility	ISO	RGD:1315699	D	RGD:401850601|PMID:23534771	20231024	RGD		DNA:SNP:cd: p.T241M (rs861539) (Human)	
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:3275	thymoma		ISO	RGD:1315699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1315699	D	RGD:401827273|PMID:23368530	20230927	RGD		DNA:SNP,haplotypes:exon 7: p.T241M (rs861539) (Human)	
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:3565	meningioma	susceptibility	ISO	RGD:1315699	D	RGD:401827274|PMID:18330515	20230927	RGD		DNA:SNP:exon 8: p.T241M (rs861539) (Human)	
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:3620	central nervous system cancer	susceptibility	ISO	RGD:1315699	D	RGD:401850601|PMID:23534771	20231025	RGD		DNA:SNP:cd: p.T241M (rs861539) (Human)	
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1315699	D	RGD:401827276|PMID:18712175	20230927	RGD		DNA:polymorphism:: (human)	
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:6846	familial melanoma		ISO	RGD:1315699	D	RGD:7240710	20260805	OMIM			
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:8923	skin melanoma		ISO	RGD:1315699	D	RGD:11554173	20241224	CTD		CTD Direct Evidence: marker/mechanism	
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1315699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21347786
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21347786
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1315699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22613844
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16564556
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1315699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11059748|PMID:16501254
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1315699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21283680
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:9004616	Left Ventricular Hypertrophy	susceptibility	ISO	RGD:1315699	D	RGD:401827272|PMID:29626209	20230927	RGD		associated with hypertension; DNA:SNP:exon 7: p.T241M (rs861539) (Human)	
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1315699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21283680
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:1315699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22613844
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:9008914	Lead Poisoning		ISO	RGD:1315699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23803535
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1315699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12023982
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1315699	D	RGD:1331525|PMID:15118671	19990101	GAD			
1306849	Xrcc3	X-ray repair cross complementing 3	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:1315699	D	RGD:401827277|PMID:17131345	20230927	RGD		DNA:SNP,haplotype:: p.T241M (rs861535) (Human)	
1306850	Mrpl1	mitochondrial ribosomal protein L1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306850	Mrpl1	mitochondrial ribosomal protein L1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306850	Mrpl1	mitochondrial ribosomal protein L1	gene	DOID:1324	lung cancer		ISO	RGD:1315701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306850	Mrpl1	mitochondrial ribosomal protein L1	gene	DOID:1909	melanoma		ISO	RGD:1315701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306850	Mrpl1	mitochondrial ribosomal protein L1	gene	DOID:3275	thymoma		ISO	RGD:1315701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306850	Mrpl1	mitochondrial ribosomal protein L1	gene	DOID:4362	cervical cancer		ISO	RGD:1315701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306850	Mrpl1	mitochondrial ribosomal protein L1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306850	Mrpl1	mitochondrial ribosomal protein L1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306850	Mrpl1	mitochondrial ribosomal protein L1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306850	Mrpl1	mitochondrial ribosomal protein L1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306851	Gtf2e1	general transcription factor IIE subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306851	Gtf2e1	general transcription factor IIE subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1315703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306851	Gtf2e1	general transcription factor IIE subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1315703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306851	Gtf2e1	general transcription factor IIE subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1315703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306851	Gtf2e1	general transcription factor IIE subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315703	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306851	Gtf2e1	general transcription factor IIE subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306852	Clul1	clusterin like 1	gene	DOID:3275	thymoma		ISO	RGD:1315705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306852	Clul1	clusterin like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306852	Clul1	clusterin like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315705	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306852	Clul1	clusterin like 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1315705	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
1306852	Clul1	clusterin like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:0060036	intrinsic cardiomyopathy		ISO	RGD:1315706	D	RGD:155646134|PMID:27249171	20221108	RGD		protein:increased expression:heart (human)	
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:11984	hypertrophic cardiomyopathy	treatment	ISO	RGD:1315707	D	RGD:155646134|PMID:27249171	20221108	RGD		protein:increased expression:heart (human)	
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:14793	hypohidrotic ectodermal dysplasia		ISS	RGD:1315707	D	RGD:13592920	20180518	MouseDO		OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100	
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:1574	alcohol use disorder	sexual_dimorphism	ISO	RGD:1315707	D	RGD:598099545|PMID:32937997	20250331	RGD		mRNA:increases expression, decreases expression: cerebral cortex (mouse)	
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:2600	laryngeal carcinoma	disease_progression	ISO	RGD:1315706	D	RGD:150573814|PMID:20164024	20220112	RGD			
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:3275	thymoma		ISO	RGD:1315706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:3393	coronary artery disease		ISO	RGD:1315706	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20524934
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1315706	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842|PMID:23143596
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:9007755	Intestinal Reperfusion Injury		IEP		D	RGD:151347179|PMID:27538408	20220118	RGD			
1306853	Traf6	TNF receptor associated factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306854	Mlf1	myeloid leukemia factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306854	Mlf1	myeloid leukemia factor 1	gene	DOID:0080074	neural tube defect		ISO	RGD:1315708	D	RGD:1600902|PMID:15659732	20070330	RGD			
1306854	Mlf1	myeloid leukemia factor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1315708	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306854	Mlf1	myeloid leukemia factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1315708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306854	Mlf1	myeloid leukemia factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306854	Mlf1	myeloid leukemia factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306854	Mlf1	myeloid leukemia factor 1	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1315708	D	RGD:1600902|PMID:15659732	20070330	RGD			
1306854	Mlf1	myeloid leukemia factor 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315708	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
1306854	Mlf1	myeloid leukemia factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315708	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306854	Mlf1	myeloid leukemia factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306854	Mlf1	myeloid leukemia factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306854	Mlf1	myeloid leukemia factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315708	D	RGD:1600902|PMID:15659732	20070330	RGD			
1306856	Cdh7	cadherin 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306856	Cdh7	cadherin 7	gene	DOID:1324	lung cancer		ISO	RGD:1315712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306856	Cdh7	cadherin 7	gene	DOID:1909	melanoma		ISO	RGD:1315712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306856	Cdh7	cadherin 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1315712	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306856	Cdh7	cadherin 7	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1315712	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16015041
1306856	Cdh7	cadherin 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306858	Fstl5	follistatin-like 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306858	Fstl5	follistatin-like 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306858	Fstl5	follistatin-like 5	gene	DOID:1115	sarcoma		ISO	RGD:1315715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306858	Fstl5	follistatin-like 5	gene	DOID:1324	lung cancer		ISO	RGD:1315715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306858	Fstl5	follistatin-like 5	gene	DOID:1909	melanoma		ISO	RGD:1315715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306858	Fstl5	follistatin-like 5	gene	DOID:3312	bipolar disorder		ISO	RGD:1315715	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
1306858	Fstl5	follistatin-like 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306858	Fstl5	follistatin-like 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306858	Fstl5	follistatin-like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306858	Fstl5	follistatin-like 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306858	Fstl5	follistatin-like 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306858	Fstl5	follistatin-like 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1315715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:0080600	COVID-19		ISO	RGD:1315719	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:10941	intracranial aneurysm		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial	PMID:25741868
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:1115	sarcoma		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:1324	lung cancer		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:1909	melanoma		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315719	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306860	Tbc1d2	TBC1 domain family, member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1315719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:1603624	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Septo-optic dysplasia sequence	PMID:25741868
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:1059	intellectual disability		ISO	RGD:1603624	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:1909	melanoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:3275	thymoma		ISO	RGD:1603624	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1603624	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:9002189	High Myopia		ISO	RGD:1603624	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:32853829
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1603624	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:9008582	Developmental Disease		ISO	RGD:1603624	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306861	Ralgapb	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306862	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306862	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:1324	lung cancer		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306862	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:1909	melanoma		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306862	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:4362	cervical cancer		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306862	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306862	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:630	genetic disease		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:37194129
1306862	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:9005217	ALZAHRANI-KUWAHARA SYNDROME		ISO	RGD:1602698	D	RGD:7240710	20210512	OMIM			
1306862	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:9005217	ALZAHRANI-KUWAHARA SYNDROME		ISO	RGD:1602698	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALZAHRANI-KUWAHARA SYNDROME | ClinVar Annotator: match by term: Alzahrani-Kuwahara syndrome | ClinVar Annotator: match by term: SMG8-related disorder	PMID:25741868
1306862	Smg8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306863	Cd34	CD34 molecule	gene	DOID:1324	lung cancer		ISO	RGD:1315723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306863	Cd34	CD34 molecule	gene	DOID:3963	thyroid gland carcinoma	treatment	ISO	RGD:1315723	D	RGD:151665104|PMID:32626543	20220310	RGD			
1306863	Cd34	CD34 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306863	Cd34	CD34 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306863	Cd34	CD34 molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315723	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1306863	Cd34	CD34 molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306863	Cd34	CD34 molecule	gene	DOID:8947	diabetic retinopathy		IEP		D	RGD:41410819|PMID:31759996	20210216	RGD		mRNA, protein:increased expression:retina	
1306863	Cd34	CD34 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306863	Cd34	CD34 molecule	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1315723	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22011395
1306864	Snx24	sorting nexin 24	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306864	Snx24	sorting nexin 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306864	Snx24	sorting nexin 24	gene	DOID:10534	stomach cancer		ISO	RGD:1315725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306864	Snx24	sorting nexin 24	gene	DOID:1115	sarcoma		ISO	RGD:1315725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306864	Snx24	sorting nexin 24	gene	DOID:1324	lung cancer		ISO	RGD:1315725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306864	Snx24	sorting nexin 24	gene	DOID:3275	thymoma		ISO	RGD:1315725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306864	Snx24	sorting nexin 24	gene	DOID:4362	cervical cancer		ISO	RGD:1315725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306864	Snx24	sorting nexin 24	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306864	Snx24	sorting nexin 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1315725	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306864	Snx24	sorting nexin 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306864	Snx24	sorting nexin 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306864	Snx24	sorting nexin 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306864	Snx24	sorting nexin 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:0060234	Carpenter syndrome		ISO	RGD:1315728	D	RGD:11554173	20190205	CTD		CTD Direct Evidence: marker/mechanism	
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:0060234	Carpenter syndrome		ISO	RGD:1315728	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Acrocephalopolysyndactyly type II | ClinVar Annotator: match by term: CARPENTER SYNDROME | ClinVar Annotator: match by term: Carpenter syndrome	PMID:16199547|PMID:17503333|PMID:21412941|PMID:25741868|PMID:27872624|PMID:28213671|PMID:28492532
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:0061098	Carpenter syndrome 1		ISO	RGD:1315728	D	RGD:7240710	20130221	OMIM			
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:0061098	Carpenter syndrome 1		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition	PMID:17503333|PMID:17576681|PMID:21412941|PMID:23599695|PMID:24458945|PMID:25741868|PMID:27872624|PMID:28213671|PMID:28492532|PMID:33368989|PMID:9536098
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:0061098	Carpenter syndrome 1		ISS	RGD:1315729	D	RGD:13592920	20251016	MouseDO		OMIM:201000	
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1315728	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex	PMID:25741868
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:10534	stomach cancer		ISO	RGD:1315728	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:11193	syndactyly		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:25741868|PMID:28492532
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:1148	polydactyly		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:28492532
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:11836	clubfoot		ISO	RGD:1315728	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28492532
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:2340	craniosynostosis		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metopic synostosis	PMID:25741868|PMID:28492532
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:1315728	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:27872624|PMID:28213671|PMID:28492532
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Situs inversus	PMID:25741868|PMID:28492532
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1315728	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1306867	Rab23	RAB23, member RAS oncogene family	gene	DOID:9565	dextrocardia		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dextrocardia	PMID:25741868|PMID:28492532
1306868	Brpf3	bromodomain and PHD finger containing, 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306868	Brpf3	bromodomain and PHD finger containing, 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306868	Brpf3	bromodomain and PHD finger containing, 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306868	Brpf3	bromodomain and PHD finger containing, 3	gene	DOID:12849	autistic disorder		ISO	RGD:1315730	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1306868	Brpf3	bromodomain and PHD finger containing, 3	gene	DOID:1909	melanoma		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306868	Brpf3	bromodomain and PHD finger containing, 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306868	Brpf3	bromodomain and PHD finger containing, 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306868	Brpf3	bromodomain and PHD finger containing, 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306868	Brpf3	bromodomain and PHD finger containing, 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306870	Troap	trophinin associated protein	gene	DOID:0080600	COVID-19		ISO	RGD:1315734	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306870	Troap	trophinin associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306870	Troap	trophinin associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1315734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306870	Troap	trophinin associated protein	gene	DOID:1909	melanoma		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306870	Troap	trophinin associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306870	Troap	trophinin associated protein	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306870	Troap	trophinin associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306870	Troap	trophinin associated protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306870	Troap	trophinin associated protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306870	Troap	trophinin associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315734	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1306870	Troap	trophinin associated protein	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1306870	Troap	trophinin associated protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306870	Troap	trophinin associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306870	Troap	trophinin associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306871	Rhobtb1	Rho-related BTB domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306871	Rhobtb1	Rho-related BTB domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1315735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306871	Rhobtb1	Rho-related BTB domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306871	Rhobtb1	Rho-related BTB domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315735	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306871	Rhobtb1	Rho-related BTB domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306871	Rhobtb1	Rho-related BTB domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306871	Rhobtb1	Rho-related BTB domain containing 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1315735	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1306871	Rhobtb1	Rho-related BTB domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306871	Rhobtb1	Rho-related BTB domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306871	Rhobtb1	Rho-related BTB domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:10283	prostate cancer		ISO	RGD:1315737	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:10534	stomach cancer		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:1115	sarcoma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:1324	lung cancer		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:1909	melanoma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1315737	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306872	Dock5	dedicator of cytokinesis 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601877	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1601877	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: patent foramen ovale	PMID:32641753
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:3275	thymoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1601877	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306873	Tecpr1	tectonin beta-propeller repeat containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1601877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306874	Fsip1	fibrous sheath interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306874	Fsip1	fibrous sheath interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306874	Fsip1	fibrous sheath interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306874	Fsip1	fibrous sheath interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306874	Fsip1	fibrous sheath interacting protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306874	Fsip1	fibrous sheath interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306874	Fsip1	fibrous sheath interacting protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306874	Fsip1	fibrous sheath interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315740	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306874	Fsip1	fibrous sheath interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306874	Fsip1	fibrous sheath interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306874	Fsip1	fibrous sheath interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306875	Arl4d	ARF like GTPase 4D	gene	DOID:0080600	COVID-19		ISO	RGD:1315741	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306875	Arl4d	ARF like GTPase 4D	gene	DOID:1115	sarcoma		ISO	RGD:1315741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306875	Arl4d	ARF like GTPase 4D	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306875	Arl4d	ARF like GTPase 4D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4	PMID:38922859
1306876	Mthfs	methenyltetrahydrofolate synthetase	gene	DOID:674	cleft palate		ISO	RGD:1315743	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21254359
1306876	Mthfs	methenyltetrahydrofolate synthetase	gene	DOID:9000512	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination		ISO	RGD:1315743	D	RGD:7240710	20190424	OMIM			
1306876	Mthfs	methenyltetrahydrofolate synthetase	gene	DOID:9256	colorectal cancer		ISO	RGD:126736038	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	PMID:28492532
1306876	Mthfs	methenyltetrahydrofolate synthetase	gene	DOID:9296	cleft lip		ISO	RGD:1315743	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21254359
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:10534	stomach cancer		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:1115	sarcoma		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:1324	lung cancer		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:1909	melanoma		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:2394	ovarian cancer		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:2661	myoepithelioma		ISO	RGD:1315744	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:3275	thymoma		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:4362	cervical cancer		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1315744	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315744	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
1306877	Asmtl	acetylserotonin O-methyltransferase-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306878	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306878	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306878	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306878	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306878	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306878	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306878	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306878	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1315745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306878	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306878	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306878	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306878	Thumpd2	THUMP domain 2 tRNA and snRNA guanosine methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306879	Vps26c	VPS26 endosomal protein sorting factor C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306879	Vps26c	VPS26 endosomal protein sorting factor C	gene	DOID:10534	stomach cancer		ISO	RGD:1315747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306879	Vps26c	VPS26 endosomal protein sorting factor C	gene	DOID:3275	thymoma		ISO	RGD:1315747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306879	Vps26c	VPS26 endosomal protein sorting factor C	gene	DOID:4362	cervical cancer		ISO	RGD:1315747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306879	Vps26c	VPS26 endosomal protein sorting factor C	gene	DOID:5041	esophageal cancer		ISO	RGD:1315747	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306879	Vps26c	VPS26 endosomal protein sorting factor C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306879	Vps26c	VPS26 endosomal protein sorting factor C	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315747	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1306879	Vps26c	VPS26 endosomal protein sorting factor C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306879	Vps26c	VPS26 endosomal protein sorting factor C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306880	Rimkla	ribosomal modification protein rimK-like family member A	gene	DOID:1324	lung cancer		ISO	RGD:1606921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306880	Rimkla	ribosomal modification protein rimK-like family member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306880	Rimkla	ribosomal modification protein rimK-like family member A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306880	Rimkla	ribosomal modification protein rimK-like family member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306880	Rimkla	ribosomal modification protein rimK-like family member A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306881	Cdr2l	cerebellar degeneration-related protein 2-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306881	Cdr2l	cerebellar degeneration-related protein 2-like	gene	DOID:3275	thymoma		ISO	RGD:1602123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306881	Cdr2l	cerebellar degeneration-related protein 2-like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306881	Cdr2l	cerebellar degeneration-related protein 2-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1602123	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306881	Cdr2l	cerebellar degeneration-related protein 2-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306881	Cdr2l	cerebellar degeneration-related protein 2-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306881	Cdr2l	cerebellar degeneration-related protein 2-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306882	Csnk2a2	casein kinase 2 alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1306882	Csnk2a2	casein kinase 2 alpha 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306882	Csnk2a2	casein kinase 2 alpha 2	gene	DOID:12336	male infertility		ISS	RGD:1315752	D	RGD:13592920	20180518	MouseDO			
1306882	Csnk2a2	casein kinase 2 alpha 2	gene	DOID:1324	lung cancer		ISO	RGD:1315751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306882	Csnk2a2	casein kinase 2 alpha 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1315751	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
1306882	Csnk2a2	casein kinase 2 alpha 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306882	Csnk2a2	casein kinase 2 alpha 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306882	Csnk2a2	casein kinase 2 alpha 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306882	Csnk2a2	casein kinase 2 alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306882	Csnk2a2	casein kinase 2 alpha 2	gene	DOID:9002909	Oxygen-Induced Retinopathy		ISO	RGD:1315752	D	RGD:11565123|PMID:16651637	20161121	RGD			
1306882	Csnk2a2	casein kinase 2 alpha 2	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1315751	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
1306882	Csnk2a2	casein kinase 2 alpha 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306882	Csnk2a2	casein kinase 2 alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306882	Csnk2a2	casein kinase 2 alpha 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306883	Frrs1	ferric-chelate reductase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1604148	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306883	Frrs1	ferric-chelate reductase 1	gene	DOID:3275	thymoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306883	Frrs1	ferric-chelate reductase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306883	Frrs1	ferric-chelate reductase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306883	Frrs1	ferric-chelate reductase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306883	Frrs1	ferric-chelate reductase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306883	Frrs1	ferric-chelate reductase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306883	Frrs1	ferric-chelate reductase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306884	Grap	GRB2-related adaptor protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306884	Grap	GRB2-related adaptor protein	gene	DOID:0111642	autosomal recessive nonsyndromic deafness 114		ISO	RGD:1353606	D	RGD:7240710	20190626	OMIM			
1306884	Grap	GRB2-related adaptor protein	gene	DOID:0111642	autosomal recessive nonsyndromic deafness 114		ISO	RGD:1353606	D	RGD:8554872	20191112	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 114	PMID:25741868|PMID:30610177
1306885	Fcrl2	Fc receptor-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306885	Fcrl2	Fc receptor-like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306885	Fcrl2	Fc receptor-like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306885	Fcrl2	Fc receptor-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306886	Actl9	actin-like 9	gene	DOID:0112279	spermatogenic failure 53		ISO	RGD:1602048	D	RGD:7240710	20210421	OMIM			
1306886	Actl9	actin-like 9	gene	DOID:0112279	spermatogenic failure 53		ISO	RGD:1602048	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 53 | ClinVar Annotator: match by term: Spermatogenic failure 53	PMID:25741868
1306886	Actl9	actin-like 9	gene	DOID:3310	atopic dermatitis		ISO	RGD:1602048	D	RGD:11554173	20170627	CTD		CTD Direct Evidence: marker/mechanism	PMID:23042114
1306887	Fbxl5	F-box and leucine-rich repeat protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306887	Fbxl5	F-box and leucine-rich repeat protein 5	gene	DOID:10283	prostate cancer		ISO	RGD:1315757	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1306887	Fbxl5	F-box and leucine-rich repeat protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1315757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306887	Fbxl5	F-box and leucine-rich repeat protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306887	Fbxl5	F-box and leucine-rich repeat protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1315757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306887	Fbxl5	F-box and leucine-rich repeat protein 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306887	Fbxl5	F-box and leucine-rich repeat protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306887	Fbxl5	F-box and leucine-rich repeat protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306887	Fbxl5	F-box and leucine-rich repeat protein 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306887	Fbxl5	F-box and leucine-rich repeat protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306888	Nfe2	nuclear factor, erythroid 2	gene	DOID:1324	lung cancer		ISO	RGD:1315759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:10534	stomach cancer		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:1115	sarcoma		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:12712	nephronophthisis		ISO	RGD:1315761	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:25741868|PMID:30609407|PMID:41542618
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:1324	lung cancer		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:1909	melanoma		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:3275	thymoma		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:4362	cervical cancer		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1315761	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1306889	Adamts9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1315761	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18372903|PMID:23967108
1306890	Prox1	prospero homeobox 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306890	Prox1	prospero homeobox 1	gene	DOID:12930	dilated cardiomyopathy		ISS	RGD:1315764	D	RGD:13592920	20180518	MouseDO			
1306890	Prox1	prospero homeobox 1	gene	DOID:1824	status epilepticus		IEP		D	RGD:5133273|PMID:17042797	20110613	RGD		protein:increased expression:dentate gyrus hilus	
1306890	Prox1	prospero homeobox 1	gene	DOID:3275	thymoma		ISO	RGD:1315763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306890	Prox1	prospero homeobox 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306890	Prox1	prospero homeobox 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315763	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306890	Prox1	prospero homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306890	Prox1	prospero homeobox 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1315763	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17415710
1306890	Prox1	prospero homeobox 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1315763	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20081858
1306890	Prox1	prospero homeobox 1	gene	DOID:9970	obesity		ISS	RGD:1315764	D	RGD:13592920	20180518	MouseDO		OMIM:601665	
1306897	Nek8	NIMA-related kinase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306897	Nek8	NIMA-related kinase 8	gene	DOID:0051081	polycystic kidney disease 8		ISO	RGD:1315774	D	RGD:7240710	20240925	OMIM			
1306897	Nek8	NIMA-related kinase 8	gene	DOID:0051081	polycystic kidney disease 8		ISO	RGD:1315774	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 8 | ClinVar Annotator: match by term: Polycystic kidney disease 8	PMID:25741868|PMID:26967905|PMID:28492532|PMID:30029678
1306897	Nek8	NIMA-related kinase 8	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
1306897	Nek8	NIMA-related kinase 8	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1315774	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: polycystic kidney disease	PMID:25741868|PMID:26967905|PMID:28492532|PMID:32574212|PMID:36215968|PMID:37598857|PMID:40677363
1306897	Nek8	NIMA-related kinase 8	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISS	RGD:1552572	D	RGD:13592920	20180518	MouseDO		OMIM:263200	
1306897	Nek8	NIMA-related kinase 8	gene	DOID:0111120	nephronophthisis 9		IAGP		D	RGD:40924667|PMID:22899815	20210304	RGD		compared to control Lewis	
1306897	Nek8	NIMA-related kinase 8	gene	DOID:0111120	nephronophthisis 9		ISO	RGD:1315774	D	RGD:7240710	20140911	OMIM			
1306897	Nek8	NIMA-related kinase 8	gene	DOID:0111120	nephronophthisis 9		ISO	RGD:1315774	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 9	PMID:16199547|PMID:17576681|PMID:18199800|PMID:22106379|PMID:23026745|PMID:23418306|PMID:25741868|PMID:26967905|PMID:28387813|PMID:28492532|PMID:32773771|PMID:35368817|PMID:37372416|PMID:37598857|PMID:9536098
1306897	Nek8	NIMA-related kinase 8	gene	DOID:0111365	benign familial hematuria		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	PMID:25741868
1306897	Nek8	NIMA-related kinase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306897	Nek8	NIMA-related kinase 8	gene	DOID:1074	kidney failure		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney failure	PMID:25741868
1306897	Nek8	NIMA-related kinase 8	gene	DOID:10787	premature menopause		ISO	RGD:1315774	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Premature menopause	PMID:23418306|PMID:25741868|PMID:26967905|PMID:28492532
1306897	Nek8	NIMA-related kinase 8	gene	DOID:4362	cervical cancer		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306897	Nek8	NIMA-related kinase 8	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1315774	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:23418306|PMID:25741868|PMID:26967905|PMID:28492532
1306897	Nek8	NIMA-related kinase 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306897	Nek8	NIMA-related kinase 8	gene	DOID:557	kidney disease		ISO	RGD:1315774	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18199800
1306897	Nek8	NIMA-related kinase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306897	Nek8	NIMA-related kinase 8	gene	DOID:630	genetic disease		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26967905|PMID:28492532
1306897	Nek8	NIMA-related kinase 8	gene	DOID:784	chronic kidney disease		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868
1306897	Nek8	NIMA-related kinase 8	gene	DOID:9001222	Renal-Hepatic-Pancreatic Dysplasia 2		ISO	RGD:1315774	D	RGD:7240710	20140911	OMIM			
1306897	Nek8	NIMA-related kinase 8	gene	DOID:9001222	Renal-Hepatic-Pancreatic Dysplasia 2		ISO	RGD:1315774	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 | ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2	PMID:17576681|PMID:23418306|PMID:25741868|PMID:25741876|PMID:26697755|PMID:26862157|PMID:26967905|PMID:28492532|PMID:9536098
1306897	Nek8	NIMA-related kinase 8	gene	DOID:9001542	Albuminuria		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albuminuria	PMID:25741868
1306897	Nek8	NIMA-related kinase 8	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
1306897	Nek8	NIMA-related kinase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306897	Nek8	NIMA-related kinase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306898	Edc3	enhancer of mRNA decapping 3	gene	DOID:0081213	autosomal recessive intellectual developmental disorder 50		ISO	RGD:1604794	D	RGD:7240710	20170510	OMIM			
1306898	Edc3	enhancer of mRNA decapping 3	gene	DOID:0081213	autosomal recessive intellectual developmental disorder 50		ISO	RGD:1604794	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 50	PMID:25741868
1306898	Edc3	enhancer of mRNA decapping 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306898	Edc3	enhancer of mRNA decapping 3	gene	DOID:3070	high grade glioma		ISO	RGD:1604794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306898	Edc3	enhancer of mRNA decapping 3	gene	DOID:3275	thymoma		ISO	RGD:1604794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306898	Edc3	enhancer of mRNA decapping 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306898	Edc3	enhancer of mRNA decapping 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306898	Edc3	enhancer of mRNA decapping 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306899	Fyttd1	forty-two-three domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306899	Fyttd1	forty-two-three domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1345293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306899	Fyttd1	forty-two-three domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1345293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306899	Fyttd1	forty-two-three domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1345293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306899	Fyttd1	forty-two-three domain containing 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1345293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306899	Fyttd1	forty-two-three domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306899	Fyttd1	forty-two-three domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345293	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306899	Fyttd1	forty-two-three domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306899	Fyttd1	forty-two-three domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306899	Fyttd1	forty-two-three domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306899	Fyttd1	forty-two-three domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306899	Fyttd1	forty-two-three domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306899	Fyttd1	forty-two-three domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306900	Atp6v0d2	ATPase H+ transporting V0 subunit D2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306900	Atp6v0d2	ATPase H+ transporting V0 subunit D2	gene	DOID:1115	sarcoma		ISO	RGD:1315777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306900	Atp6v0d2	ATPase H+ transporting V0 subunit D2	gene	DOID:3275	thymoma		ISO	RGD:1315777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306900	Atp6v0d2	ATPase H+ transporting V0 subunit D2	gene	DOID:4362	cervical cancer		ISO	RGD:1315777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306900	Atp6v0d2	ATPase H+ transporting V0 subunit D2	gene	DOID:5119	ovarian cyst		ISO	RGD:1315777	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
1306900	Atp6v0d2	ATPase H+ transporting V0 subunit D2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306900	Atp6v0d2	ATPase H+ transporting V0 subunit D2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315777	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25279216
1306902	Psmd7	proteasome 26S subunit, non-ATPase 7	gene	DOID:1324	lung cancer		ISO	RGD:1315780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306902	Psmd7	proteasome 26S subunit, non-ATPase 7	gene	DOID:1909	melanoma		ISO	RGD:1315780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306902	Psmd7	proteasome 26S subunit, non-ATPase 7	gene	DOID:3275	thymoma		ISO	RGD:1315780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306902	Psmd7	proteasome 26S subunit, non-ATPase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306902	Psmd7	proteasome 26S subunit, non-ATPase 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1315780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306902	Psmd7	proteasome 26S subunit, non-ATPase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306904	Pcgf6	polycomb group ring finger 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306904	Pcgf6	polycomb group ring finger 6	gene	DOID:10534	stomach cancer		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306904	Pcgf6	polycomb group ring finger 6	gene	DOID:1115	sarcoma		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306904	Pcgf6	polycomb group ring finger 6	gene	DOID:1324	lung cancer		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306904	Pcgf6	polycomb group ring finger 6	gene	DOID:1909	melanoma		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306904	Pcgf6	polycomb group ring finger 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306904	Pcgf6	polycomb group ring finger 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306904	Pcgf6	polycomb group ring finger 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306905	H4c1	H4 clustered histone 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1315697	D	RGD:11554173	20220607	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
1306906	Rpf2	ribosome production factor 2 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306906	Rpf2	ribosome production factor 2 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306906	Rpf2	ribosome production factor 2 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306906	Rpf2	ribosome production factor 2 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306906	Rpf2	ribosome production factor 2 homolog	gene	DOID:1909	melanoma		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306906	Rpf2	ribosome production factor 2 homolog	gene	DOID:3275	thymoma		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306906	Rpf2	ribosome production factor 2 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306906	Rpf2	ribosome production factor 2 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306906	Rpf2	ribosome production factor 2 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306907	Higd1b	HIG1 hypoxia inducible domain family, member 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1601998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306907	Higd1b	HIG1 hypoxia inducible domain family, member 1B	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1601998	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4	PMID:38922859
1306907	Higd1b	HIG1 hypoxia inducible domain family, member 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306907	Higd1b	HIG1 hypoxia inducible domain family, member 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306908	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306908	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306908	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306908	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:1909	melanoma		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306908	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:3275	thymoma		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306908	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306908	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306908	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306908	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:9008539	Perinatal Death		ISO	RGD:1606284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal death	
1306908	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306908	Spdl1	spindle apparatus coiled-coil protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1345417	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness	
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:0110506	autosomal recessive nonsyndromic deafness 49		ISO	RGD:1345417	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:0110506	autosomal recessive nonsyndromic deafness 49		ISO	RGD:1345417	D	RGD:7240710	20130221	OMIM			
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:0110506	autosomal recessive nonsyndromic deafness 49		ISO	RGD:1345417	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 | ClinVar Annotator: match by term: MARVELD2-related condition	PMID:16199547|PMID:17186462|PMID:18084694|PMID:22097895|PMID:23767834|PMID:23979167|PMID:24033266|PMID:25652404|PMID:25666562|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31850270|PMID:33597575
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:0110506	autosomal recessive nonsyndromic deafness 49		ISS	RGD:1550600	D	RGD:13592920	20230718	MouseDO		OMIM:610153	
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1345417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345417	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1345417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:28492532
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1345417	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:17186462|PMID:18084694|PMID:24033266|PMID:25741868|PMID:30311386
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1345417	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:16199547|PMID:17186462|PMID:22097895|PMID:25666562|PMID:25741868|PMID:28492532|PMID:30311386
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:9008681	Deafness		ISO	RGD:1345417	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306909	Marveld2	MARVEL domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1345417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306912	Kyat1	kynurenine aminotransferase 1	gene	DOID:305	carcinoma		ISO	RGD:1315794	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20663906
1306912	Kyat1	kynurenine aminotransferase 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1315794	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20663906
1306912	Kyat1	kynurenine aminotransferase 1	gene	DOID:9002457	Experimental Arthritis		IMP		D	RGD:2306289|PMID:16984225	20090416	RGD			
1306913	Pex19	peroxisomal biogenesis factor 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306913	Pex19	peroxisomal biogenesis factor 19	gene	DOID:0080377	peroxisomal biogenesis disorder		ISO	RGD:1315796	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20683989
1306913	Pex19	peroxisomal biogenesis factor 19	gene	DOID:0080486	peroxisome biogenesis disorder 12A		ISO	RGD:1315796	D	RGD:7240710	20140911	OMIM			
1306913	Pex19	peroxisomal biogenesis factor 19	gene	DOID:0080486	peroxisome biogenesis disorder 12A		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger)	PMID:10051604|PMID:16199547|PMID:17576681|PMID:20683989|PMID:21031596|PMID:25741868|PMID:28281558|PMID:28492532|PMID:30561787|PMID:32552793|PMID:9536098
1306913	Pex19	peroxisomal biogenesis factor 19	gene	DOID:10534	stomach cancer		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306913	Pex19	peroxisomal biogenesis factor 19	gene	DOID:1909	melanoma		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306913	Pex19	peroxisomal biogenesis factor 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306913	Pex19	peroxisomal biogenesis factor 19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306913	Pex19	peroxisomal biogenesis factor 19	gene	DOID:630	genetic disease		ISO	RGD:1315796	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1306913	Pex19	peroxisomal biogenesis factor 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306913	Pex19	peroxisomal biogenesis factor 19	gene	DOID:905	Zellweger syndrome		ISO	RGD:1315796	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10051604
1306913	Pex19	peroxisomal biogenesis factor 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306914	Lgals12	galectin 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306914	Lgals12	galectin 12	gene	DOID:1324	lung cancer		ISO	RGD:1315798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306914	Lgals12	galectin 12	gene	DOID:1909	melanoma		ISO	RGD:1315798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306914	Lgals12	galectin 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306914	Lgals12	galectin 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:1059	intellectual disability		ISO	RGD:1315800	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:10892	hypospadias		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315800	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:1115	sarcoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:1909	melanoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:3275	thymoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1315800	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:630	genetic disease		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:26365382|PMID:28492532|PMID:35101336
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:9001064	Hao-Fountain Syndrome		ISO	RGD:1315800	D	RGD:7240710	20200722	OMIM			
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:9001064	Hao-Fountain Syndrome		ISO	RGD:1315800	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: HAO-FOUNTAIN SYNDROME | ClinVar Annotator: match by term: Hao-Fountain syndrome | ClinVar Annotator: match by term: Hao-Fountain syndrome due to USP7 mutation | ClinVar Annotator: match by term: USP7-related condition | ClinVar Annotator: match by term: USP7-related neurodevelopmental disorder	PMID:17576681|PMID:25741868|PMID:26365382|PMID:28492532|PMID:30679821|PMID:9536098
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315800	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Venous thrombosis	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315800	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:30679821|PMID:33012787|PMID:36466803|PMID:38221796
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:9004992	Apnea		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306915	Usp7	ubiquitin specific peptidase 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1315800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306917	Uqcc2	ubiquinol-cytochrome c reductase complex assembly factor 2	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1315803	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1306917	Uqcc2	ubiquinol-cytochrome c reductase complex assembly factor 2	gene	DOID:0080116	mitochondrial complex III deficiency nuclear type 7		ISO	RGD:1315803	D	RGD:7240710	20170510	OMIM			
1306917	Uqcc2	ubiquinol-cytochrome c reductase complex assembly factor 2	gene	DOID:0080116	mitochondrial complex III deficiency nuclear type 7		ISO	RGD:1315803	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 7	PMID:25741868|PMID:28492532
1306918	Cops7b	COP9 signalosome subunit 7B	gene	DOID:3070	high grade glioma		ISO	RGD:1315805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306918	Cops7b	COP9 signalosome subunit 7B	gene	DOID:5041	esophageal cancer		ISO	RGD:1315805	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306918	Cops7b	COP9 signalosome subunit 7B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306918	Cops7b	COP9 signalosome subunit 7B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306919	Sumo1	small ubiquitin-like modifier 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306919	Sumo1	small ubiquitin-like modifier 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306919	Sumo1	small ubiquitin-like modifier 1	gene	DOID:0080403	orofacial cleft 10		ISO	RGD:1315807	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306919	Sumo1	small ubiquitin-like modifier 1	gene	DOID:0080403	orofacial cleft 10		ISO	RGD:1315807	D	RGD:7240710	20130221	OMIM			
1306919	Sumo1	small ubiquitin-like modifier 1	gene	DOID:0080403	orofacial cleft 10		ISO	RGD:1315807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 10	
1306919	Sumo1	small ubiquitin-like modifier 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306919	Sumo1	small ubiquitin-like modifier 1	gene	DOID:1115	sarcoma		ISO	RGD:1315807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306919	Sumo1	small ubiquitin-like modifier 1	gene	DOID:1324	lung cancer		ISO	RGD:1315807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306919	Sumo1	small ubiquitin-like modifier 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306919	Sumo1	small ubiquitin-like modifier 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315807	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306919	Sumo1	small ubiquitin-like modifier 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306919	Sumo1	small ubiquitin-like modifier 1	gene	DOID:674	cleft palate		ISO	RGD:1315807	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16990542
1306919	Sumo1	small ubiquitin-like modifier 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1315807	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15048980
1306919	Sumo1	small ubiquitin-like modifier 1	gene	DOID:9296	cleft lip		ISO	RGD:1315807	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16990542
1306922	Aebp1	AE binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1306922	Aebp1	AE binding protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315812	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1306922	Aebp1	AE binding protein 1	gene	DOID:0080726	Ehlers-Danlos syndrome classic type 2		ISO	RGD:1315812	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2	
1306922	Aebp1	AE binding protein 1	gene	DOID:0080732	Ehlers-Danlos syndrome classic-like 2		ISO	RGD:1315812	D	RGD:7240710	20190315	OMIM			
1306922	Aebp1	AE binding protein 1	gene	DOID:0080732	Ehlers-Danlos syndrome classic-like 2		ISO	RGD:1315812	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: AEBP1-related condition | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2	PMID:16199547|PMID:25741868|PMID:27023906|PMID:28492532|PMID:29606302|PMID:30548383|PMID:33144682
1306922	Aebp1	AE binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1306922	Aebp1	AE binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1306922	Aebp1	AE binding protein 1	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1315812	D	RGD:8554872	20210209	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1	PMID:25741868|PMID:30759870
1306922	Aebp1	AE binding protein 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1306922	Aebp1	AE binding protein 1	gene	DOID:2841	asthma		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1306922	Aebp1	AE binding protein 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
1306922	Aebp1	AE binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306922	Aebp1	AE binding protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306922	Aebp1	AE binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315812	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306922	Aebp1	AE binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1306922	Aebp1	AE binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306922	Aebp1	AE binding protein 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
1306922	Aebp1	AE binding protein 1	gene	DOID:9002189	High Myopia		ISO	RGD:1315812	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1306922	Aebp1	AE binding protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1306922	Aebp1	AE binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306922	Aebp1	AE binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306922	Aebp1	AE binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306924	Tubgcp4	tubulin gamma complex component 4	gene	DOID:0080105	microcephaly and chorioretinopathy 1		ISO	RGD:1603663	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1306924	Tubgcp4	tubulin gamma complex component 4	gene	DOID:0080107	microcephaly and chorioretinopathy 3		ISO	RGD:1603663	D	RGD:7240710	20150722	OMIM			
1306924	Tubgcp4	tubulin gamma complex component 4	gene	DOID:0080107	microcephaly and chorioretinopathy 3		ISO	RGD:1603663	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 3 | ClinVar Annotator: match by term: TUBGCP4-related condition	PMID:16199547|PMID:25741868|PMID:25817018|PMID:28492532
1306924	Tubgcp4	tubulin gamma complex component 4	gene	DOID:10534	stomach cancer		ISO	RGD:1603663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306924	Tubgcp4	tubulin gamma complex component 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1306924	Tubgcp4	tubulin gamma complex component 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
1306924	Tubgcp4	tubulin gamma complex component 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1603663	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1306924	Tubgcp4	tubulin gamma complex component 4	gene	DOID:5723	optic atrophy		ISO	RGD:1603663	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1306924	Tubgcp4	tubulin gamma complex component 4	gene	DOID:630	genetic disease		ISO	RGD:1603663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306924	Tubgcp4	tubulin gamma complex component 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1603663	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1306924	Tubgcp4	tubulin gamma complex component 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1603663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1306925	Trappc2	trafficking protein particle complex subunit 2	gene	DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda		ISO	RGD:1350228	D	RGD:7240710	20181219	OMIM			
1306925	Trappc2	trafficking protein particle complex subunit 2	gene	DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda		ISO	RGD:1350228	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked	PMID:25741868
1306925	Trappc2	trafficking protein particle complex subunit 2	gene	DOID:0112284	spondyloepiphyseal dysplasia tarda		ISO	RGD:1350228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda	PMID:25741868
1306925	Trappc2	trafficking protein particle complex subunit 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1350228	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1306925	Trappc2	trafficking protein particle complex subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1350228	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306926	Faap100	FA core complex associated protein 100	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306926	Faap100	FA core complex associated protein 100	gene	DOID:1115	sarcoma		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306926	Faap100	FA core complex associated protein 100	gene	DOID:1909	melanoma		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306926	Faap100	FA core complex associated protein 100	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306926	Faap100	FA core complex associated protein 100	gene	DOID:6039	uveal melanoma		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306926	Faap100	FA core complex associated protein 100	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306926	Faap100	FA core complex associated protein 100	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306926	Faap100	FA core complex associated protein 100	gene	DOID:9009450	Fanconi anemia complementation group X		ISO	RGD:1604593	D	RGD:7240710	20260812	OMIM			
1306926	Faap100	FA core complex associated protein 100	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306927	Atp13a4	ATPase 13A4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306927	Atp13a4	ATPase 13A4	gene	DOID:10534	stomach cancer		ISO	RGD:1346317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306927	Atp13a4	ATPase 13A4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306927	Atp13a4	ATPase 13A4	gene	DOID:1115	sarcoma		ISO	RGD:1346317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306927	Atp13a4	ATPase 13A4	gene	DOID:1324	lung cancer		ISO	RGD:1346317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306927	Atp13a4	ATPase 13A4	gene	DOID:3275	thymoma		ISO	RGD:1346317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1306927	Atp13a4	ATPase 13A4	gene	DOID:3529	congenital myopathy 1A		ISO	RGD:1346317	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Central core myopathy	PMID:25741868
1306927	Atp13a4	ATPase 13A4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1306927	Atp13a4	ATPase 13A4	gene	DOID:5041	esophageal cancer		ISO	RGD:1346317	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306927	Atp13a4	ATPase 13A4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306927	Atp13a4	ATPase 13A4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306927	Atp13a4	ATPase 13A4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306927	Atp13a4	ATPase 13A4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306927	Atp13a4	ATPase 13A4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306927	Atp13a4	ATPase 13A4	gene	DOID:9256	colorectal cancer		ISO	RGD:1346317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
1306930	Dynlrb2	dynein light chain roadblock-type 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315823	D	RGD:13208527|PMID:11750132	20170809	RGD			
1306931	Slc30a5	solute carrier family 30 member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306931	Slc30a5	solute carrier family 30 member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1315825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306931	Slc30a5	solute carrier family 30 member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306931	Slc30a5	solute carrier family 30 member 5	gene	DOID:1115	sarcoma		ISO	RGD:1315825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306931	Slc30a5	solute carrier family 30 member 5	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1315825	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy	PMID:25741868|PMID:33547425
1306931	Slc30a5	solute carrier family 30 member 5	gene	DOID:3275	thymoma		ISO	RGD:1315825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306931	Slc30a5	solute carrier family 30 member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306931	Slc30a5	solute carrier family 30 member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1315825	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306931	Slc30a5	solute carrier family 30 member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306931	Slc30a5	solute carrier family 30 member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306931	Slc30a5	solute carrier family 30 member 5	gene	DOID:9007001	Bradycardia		ISO	RGD:1315826	D	RGD:1580628|PMID:12095919	19990101	RGD			
1306931	Slc30a5	solute carrier family 30 member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306931	Slc30a5	solute carrier family 30 member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306932	Mblac1	metallo-beta-lactamase domain containing 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1602638	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:0050144	Kartagener syndrome		ISS	RGD:1315829	D	RGD:13592920	20180518	MouseDO			
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1315829	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315828	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:0110609	primary ciliary dyskinesia 23		ISO	RGD:1315828	D	RGD:7240710	20140911	OMIM			
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:0110609	primary ciliary dyskinesia 23		ISO	RGD:1315828	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 23 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 23, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 23	PMID:16199547|PMID:17576681|PMID:23849778|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26139845|PMID:27637300|PMID:28492532|PMID:31213628|PMID:31650533|PMID:34670123|PMID:39462806|PMID:9536098
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:0110609	primary ciliary dyskinesia 23		ISS	RGD:1315829	D	RGD:13592920	20230718	MouseDO		OMIM:615451	
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1315828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1315828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1315828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Situs inversus totalis	PMID:16199547|PMID:23849778|PMID:25741868|PMID:28492532
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:9004108	Fused Kidney		ISO	RGD:1315828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:25741868
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1315828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306933	Odad2	outer dynein arm docking complex subunit 2	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1315828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:23849778|PMID:24033266|PMID:24203976|PMID:25741868|PMID:28492532|PMID:31213628|PMID:33577779|PMID:9536098
1306934	Bcl9	BCL9, transcription coactivator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306934	Bcl9	BCL9, transcription coactivator	gene	DOID:2843	long QT syndrome		ISO	RGD:1315830	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
1306934	Bcl9	BCL9, transcription coactivator	gene	DOID:3070	high grade glioma		ISO	RGD:1315830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306934	Bcl9	BCL9, transcription coactivator	gene	DOID:3275	thymoma		ISO	RGD:1315830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306934	Bcl9	BCL9, transcription coactivator	gene	DOID:5041	esophageal cancer		ISO	RGD:1315830	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306934	Bcl9	BCL9, transcription coactivator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306934	Bcl9	BCL9, transcription coactivator	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1315830	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22024689
1306934	Bcl9	BCL9, transcription coactivator	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306934	Bcl9	BCL9, transcription coactivator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306935	Polr2c	RNA polymerase II subunit C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306935	Polr2c	RNA polymerase II subunit C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306935	Polr2c	RNA polymerase II subunit C	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1315832	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
1306935	Polr2c	RNA polymerase II subunit C	gene	DOID:1324	lung cancer		ISO	RGD:1315832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306935	Polr2c	RNA polymerase II subunit C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315832	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
1306935	Polr2c	RNA polymerase II subunit C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306935	Polr2c	RNA polymerase II subunit C	gene	DOID:9008681	Deafness		ISO	RGD:1315832	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Deafness	
1306935	Polr2c	RNA polymerase II subunit C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL	
1306936	Malsu1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306936	Malsu1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306936	Malsu1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306936	Malsu1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306936	Malsu1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306936	Malsu1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306937	Cpxm1	carboxypeptidase X (M14 family), member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306937	Cpxm1	carboxypeptidase X (M14 family), member 1	gene	DOID:1115	sarcoma		ISO	RGD:1315836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306937	Cpxm1	carboxypeptidase X (M14 family), member 1	gene	DOID:1909	melanoma		ISO	RGD:1315836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306937	Cpxm1	carboxypeptidase X (M14 family), member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306937	Cpxm1	carboxypeptidase X (M14 family), member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306937	Cpxm1	carboxypeptidase X (M14 family), member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306937	Cpxm1	carboxypeptidase X (M14 family), member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306937	Cpxm1	carboxypeptidase X (M14 family), member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:10534	stomach cancer		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:1324	lung cancer		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1606777	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type	PMID:25741868
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:1909	melanoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:3070	high grade glioma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:4362	cervical cancer		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:5041	esophageal cancer		ISO	RGD:1606777	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306938	Thsd7b	thrombospondin type 1 domain containing 7B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306939	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306939	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306939	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:0110465	autosomal recessive nonsyndromic deafness 104		ISO	RGD:1315839	D	RGD:7240710	20170308	OMIM			
1306939	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:0110465	autosomal recessive nonsyndromic deafness 104		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1306939	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:0110551	autosomal dominant nonsyndromic deafness 21		ISO	RGD:1315839	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306939	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:0110551	autosomal dominant nonsyndromic deafness 21		ISO	RGD:1315839	D	RGD:7240710	20220406	OMIM			
1306939	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:0110551	autosomal dominant nonsyndromic deafness 21		ISO	RGD:1315839	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 21 | ClinVar Annotator: match by term: Deafness, autosomal dominant 21	PMID:25741868|PMID:28492532|PMID:32631815
1306939	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1306939	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:1909	melanoma		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306939	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306939	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306939	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1306939	Ripor2	RHO family interacting cell polarization regulator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1306940	Mybl1	MYB proto-oncogene like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306940	Mybl1	MYB proto-oncogene like 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1315840	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1306940	Mybl1	MYB proto-oncogene like 1	gene	DOID:0080600	COVID-19		ISO	RGD:1315840	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306940	Mybl1	MYB proto-oncogene like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306940	Mybl1	MYB proto-oncogene like 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1315840	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1306940	Mybl1	MYB proto-oncogene like 1	gene	DOID:1909	melanoma		ISO	RGD:1315840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306940	Mybl1	MYB proto-oncogene like 1	gene	DOID:3070	high grade glioma		ISO	RGD:1315840	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583981
1306940	Mybl1	MYB proto-oncogene like 1	gene	DOID:3275	thymoma		ISO	RGD:1315840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306940	Mybl1	MYB proto-oncogene like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306940	Mybl1	MYB proto-oncogene like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306940	Mybl1	MYB proto-oncogene like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306940	Mybl1	MYB proto-oncogene like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306940	Mybl1	MYB proto-oncogene like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1315840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306941	C9h2orf69	similar to human chromosome 2 open reading frame 69	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306941	C9h2orf69	similar to human chromosome 2 open reading frame 69	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306941	C9h2orf69	similar to human chromosome 2 open reading frame 69	gene	DOID:0070426	combined oxidative phosphorylation deficiency 53		ISO	RGD:1603539	D	RGD:7240710	20210721	OMIM			
1306941	C9h2orf69	similar to human chromosome 2 open reading frame 69	gene	DOID:0070426	combined oxidative phosphorylation deficiency 53		ISO	RGD:1603539	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 53	PMID:25741868
1306941	C9h2orf69	similar to human chromosome 2 open reading frame 69	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306941	C9h2orf69	similar to human chromosome 2 open reading frame 69	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306941	C9h2orf69	similar to human chromosome 2 open reading frame 69	gene	DOID:630	genetic disease		ISO	RGD:1603539	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306941	C9h2orf69	similar to human chromosome 2 open reading frame 69	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306942	Tdrd9	tudor domain containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306942	Tdrd9	tudor domain containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306942	Tdrd9	tudor domain containing 9	gene	DOID:0080600	COVID-19		ISO	RGD:1315843	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306942	Tdrd9	tudor domain containing 9	gene	DOID:0111913	spermatogenic failure 30		ISO	RGD:1315843	D	RGD:7240710	20190410	OMIM			
1306942	Tdrd9	tudor domain containing 9	gene	DOID:0111913	spermatogenic failure 30		ISO	RGD:1315843	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 30 | ClinVar Annotator: match by term: TDRD9-related condition	PMID:25741868|PMID:28492532
1306942	Tdrd9	tudor domain containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306942	Tdrd9	tudor domain containing 9	gene	DOID:12336	male infertility		ISO	RGD:1315843	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
1306942	Tdrd9	tudor domain containing 9	gene	DOID:14227	azoospermia		ISO	RGD:1315843	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Azoospermia	
1306942	Tdrd9	tudor domain containing 9	gene	DOID:1909	melanoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306942	Tdrd9	tudor domain containing 9	gene	DOID:4362	cervical cancer		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306942	Tdrd9	tudor domain containing 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306942	Tdrd9	tudor domain containing 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1315843	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306942	Tdrd9	tudor domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306942	Tdrd9	tudor domain containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306942	Tdrd9	tudor domain containing 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306943	Trim55	tripartite motif-containing 55	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306943	Trim55	tripartite motif-containing 55	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306943	Trim55	tripartite motif-containing 55	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306943	Trim55	tripartite motif-containing 55	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306943	Trim55	tripartite motif-containing 55	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306943	Trim55	tripartite motif-containing 55	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306943	Trim55	tripartite motif-containing 55	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306943	Trim55	tripartite motif-containing 55	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306944	Rad51d	RAD51 paralog D	gene	DOID:1612	breast cancer		ISO	RGD:1315846	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32107557|PMID:32295079|PMID:32566746
1306944	Rad51d	RAD51 paralog D	gene	DOID:1612	breast cancer		ISO	RGD:1315846	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32107557|PMID:32295079|PMID:32566746|PMID:32885271
1306944	Rad51d	RAD51 paralog D	gene	DOID:1612	breast cancer		ISO	RGD:1315846	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32338768|PMID:32426482|PMID:32566746|PMID:32885271|PMID:33471991|PMID:34200360
1306944	Rad51d	RAD51 paralog D	gene	DOID:1612	breast cancer		ISO	RGD:1315846	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, protection against | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:34200360
1306944	Rad51d	RAD51 paralog D	gene	DOID:1612	breast cancer		ISO	RGD:1315846	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:34117267|PMID:34200360
1306944	Rad51d	RAD51 paralog D	gene	DOID:1612	breast cancer		ISO	RGD:1315846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27854218|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29625052|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:34200360|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34923718|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35565380|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31589614|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35980532|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36988593|PMID:37231433|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:11125122|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26292667|PMID:26296696|PMID:26328243|PMID:26432245|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31802016|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32461613|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33568819|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35849291|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:11125122|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26292667|PMID:26296696|PMID:26328243|PMID:26432245|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31802016|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32461613|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33047316|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33568819|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35849291|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:11125122|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26292667|PMID:26296696|PMID:26328243|PMID:26432245|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31802016|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32461613|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33047316|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33568819|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35849291|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:11125122|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25786579|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26292667|PMID:26296696|PMID:26328243|PMID:26432245|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28495237|PMID:28522256|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28852190|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31780705|PMID:31802016|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32068069|PMID:32091409|PMID:32107557|PMID:32191290|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32355288|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32461613|PMID:32522261|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33047316|PMID:33062672|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33385275|PMID:33430302|PMID:33432021|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33568819|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33649982|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34793666|PMID:34838098|PMID:34887416|PMID:34917121|PMID:34923718|PMID:35014770|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35358259|PMID:35534704|PMID:35565380|PMID:35641994|PMID:35710434|PMID:35712480|PMID:35849291|PMID:35861108|PMID:35884425|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36095024|PMID:36113475|PMID:36185283|PMID:36225625|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36744932|PMID:36988593|PMID:37024097|PMID:37069702|PMID:37193789|PMID:37231433|PMID:37344589|PMID:37461096|PMID:37833926|PMID:38153744|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:11125122|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26292667|PMID:26296696|PMID:26328243|PMID:26432245|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28495237|PMID:28522256|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28852190|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:29915322|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31780705|PMID:31802016|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32107557|PMID:32191290|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32355288|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32461613|PMID:32522261|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33047316|PMID:33062672|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33385275|PMID:33430302|PMID:33432021|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33568819|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33649982|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34793666|PMID:34838098|PMID:34887416|PMID:34917121|PMID:34923718|PMID:35014770|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35358259|PMID:35534704|PMID:35565380|PMID:35641994|PMID:35710434|PMID:35712480|PMID:35849291|PMID:35861108|PMID:35884425|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36095024|PMID:36113475|PMID:36185283|PMID:36225625|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36744932|PMID:36988593|PMID:37024097|PMID:37069702|PMID:37193789|PMID:37231433|PMID:37344589|PMID:37461096|PMID:37833926|PMID:38153744|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10749867|PMID:11125122|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25085752|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26292667|PMID:26296696|PMID:26328243|PMID:26432245|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28495237|PMID:28522256|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28852190|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:29915322|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31780705|PMID:31802016|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32107557|PMID:32191290|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32355288|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32461613|PMID:32522261|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33047316|PMID:33062672|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33385275|PMID:33430302|PMID:33432021|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33568819|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33649982|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34793666|PMID:34838098|PMID:34887416|PMID:34917121|PMID:34923718|PMID:35014770|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35358259|PMID:35534704|PMID:35565380|PMID:35641994|PMID:35710434|PMID:35712480|PMID:35849291|PMID:35861108|PMID:35884425|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36095024|PMID:36113475|PMID:36185283|PMID:36225625|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36744932|PMID:36988593|PMID:37024097|PMID:37069702|PMID:37193789|PMID:37231433|PMID:37344589|PMID:37461096|PMID:37833926|PMID:38153744|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10749867|PMID:11125122|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25085752|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26292667|PMID:26296696|PMID:26328243|PMID:26432245|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27941862|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28495237|PMID:28522256|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28852190|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:29915322|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31780705|PMID:31802016|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32107557|PMID:32191290|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32355288|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32461613|PMID:32522261|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33047316|PMID:33062672|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33385275|PMID:33430302|PMID:33432021|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33568819|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33649982|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34793666|PMID:34838098|PMID:34887416|PMID:34917121|PMID:34923718|PMID:35014770|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35358259|PMID:35534704|PMID:35565380|PMID:35641994|PMID:35710434|PMID:35712480|PMID:35849291|PMID:35861108|PMID:35884425|PMID:35977101|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36095024|PMID:36113475|PMID:36185283|PMID:36225625|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36744932|PMID:36988593|PMID:37024097|PMID:37069702|PMID:37193789|PMID:37231433|PMID:37344587|PMID:37344589|PMID:37461096|PMID:37723522|PMID:37833926|PMID:38118367|PMID:38153744|PMID:38905575|PMID:39126233|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:16717288|PMID:19327148|PMID:21111057|PMID:21822267|PMID:22986143|PMID:25186627|PMID:25741868|PMID:26681312|PMID:26720728|PMID:26845104|PMID:26976419|PMID:28492532|PMID:28646019|PMID:28888541|PMID:30192042|PMID:32427313
1306944	Rad51d	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome	susceptibility	ISO	RGD:1315846	D	RGD:7240710	20190502	OMIM			
1306944	Rad51d	RAD51 paralog D	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1315846	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822267
1306944	Rad51d	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33901219|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35565380|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33203166|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35849291|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33047316|PMID:33203166|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35849291|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28495237|PMID:28522256|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28852190|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:29915322|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31780705|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32068069|PMID:32091409|PMID:32107557|PMID:32191290|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32355288|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33047316|PMID:33062672|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33385275|PMID:33432021|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33649982|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34793666|PMID:34838098|PMID:34887416|PMID:34917121|PMID:34923718|PMID:35014770|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35358259|PMID:35534704|PMID:35565380|PMID:35641994|PMID:35710434|PMID:35712480|PMID:35849291|PMID:35861108|PMID:35884425|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36095024|PMID:36113475|PMID:36185283|PMID:36225625|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36744932|PMID:36988593|PMID:37024097|PMID:37069702|PMID:37193789|PMID:37231433|PMID:37344589|PMID:37461096|PMID:37833926|PMID:38153744|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25085752|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28495237|PMID:28522256|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28852190|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:29915322|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31780705|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32068069|PMID:32091409|PMID:32107557|PMID:32191290|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32355288|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33047316|PMID:33062672|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33385275|PMID:33432021|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33649982|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34793666|PMID:34838098|PMID:34887416|PMID:34917121|PMID:34923718|PMID:35014770|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35358259|PMID:35534704|PMID:35565380|PMID:35641994|PMID:35710434|PMID:35712480|PMID:35849291|PMID:35861108|PMID:35884425|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36095024|PMID:36113475|PMID:36185283|PMID:36225625|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36744932|PMID:36988593|PMID:37024097|PMID:37069702|PMID:37193789|PMID:37231433|PMID:37344589|PMID:37461096|PMID:37833926|PMID:38153744|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25085752|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27941862|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28495237|PMID:28522256|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28852190|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:29915322|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31780705|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32068069|PMID:32091409|PMID:32107557|PMID:32191290|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32355288|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33047316|PMID:33062672|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33385275|PMID:33432021|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33649982|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34793666|PMID:34838098|PMID:34887416|PMID:34917121|PMID:34923718|PMID:35014770|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35358259|PMID:35534704|PMID:35565380|PMID:35641994|PMID:35710434|PMID:35712480|PMID:35849291|PMID:35861108|PMID:35884425|PMID:35977101|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36095024|PMID:36113475|PMID:36185283|PMID:36225625|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36744932|PMID:36988593|PMID:37024097|PMID:37069702|PMID:37193789|PMID:37231433|PMID:37344587|PMID:37344589|PMID:37461096|PMID:37723522|PMID:37833926|PMID:38118367|PMID:38153744|PMID:38905575|PMID:39126233|PMID:6329717|PMID:9536098
1306944	Rad51d	RAD51 paralog D	gene	DOID:9008165	Chromosome Deletion		ISO	RGD:1315846	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27924006
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:0081219	autosomal recessive intellectual developmental disorder 57		ISO	RGD:1353967	D	RGD:7240710	20190315	OMIM			
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:0081219	autosomal recessive intellectual developmental disorder 57		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 57 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 57 | ClinVar Annotator: match by term: MBOAT7-related condition	PMID:25741868|PMID:27616480
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1353967	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:10534	stomach cancer		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:1059	intellectual disability		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27616480|PMID:30167849|PMID:31852446|PMID:33335874
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:1059	intellectual disability		ISO	RGD:1353967	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:10907	microcephaly		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:10908	hydrocephalus		ISS	RGD:1551274	D	RGD:13592920	20180518	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:12849	autistic disorder		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1353967	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26482880
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:1826	epilepsy		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:1909	melanoma		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:2340	craniosynostosis		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:4362	cervical cancer		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:540	strabismus		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:630	genetic disease		ISO	RGD:1353967	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874|PMID:36413997
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9000052	Breech Presentation		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breech presentation	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9000495	Tremor		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353967	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9004538	Hearing Loss		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:24033266|PMID:25741868
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9007573	Flatfoot		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9007661	Dwarfism		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9007722	Myoclonus		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:93	language disorder		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:963	episodic ataxia		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	
1306945	Mboat7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	gene	DOID:9834	hyperopia		ISO	RGD:1353967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1306946	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1345395	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1306946	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11		ISO	RGD:1345395	D	RGD:7240710	20140911	OMIM			
1306946	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11		ISO	RGD:1345395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11	PMID:16199547|PMID:17576681|PMID:23453667|PMID:24084573|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26663670|PMID:28492532|PMID:29273094|PMID:29302074|PMID:31130284|PMID:31428121|PMID:33200426|PMID:33290285|PMID:35338537|PMID:38649797|PMID:9536098
1306946	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:0112374	muscular dystrophy-dystroglycanopathy		ISO	RGD:1345395	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy	PMID:23453667|PMID:25741868|PMID:28492532
1306946	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306946	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:11830	myopia		ISO	RGD:1345395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1306946	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1345395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306946	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306946	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306946	B3galnt2	beta-1,3-N-acetylgalactosaminyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:1345395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:23453667|PMID:25741868|PMID:28492532|PMID:31130284
1306947	Wdr83	WD repeat domain 83	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306947	Wdr83	WD repeat domain 83	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1601942	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADHD	
1306947	Wdr83	WD repeat domain 83	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306947	Wdr83	WD repeat domain 83	gene	DOID:1909	melanoma		ISO	RGD:1601942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306947	Wdr83	WD repeat domain 83	gene	DOID:4362	cervical cancer		ISO	RGD:1601942	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306948	Copz2	coat protein complex I subunit zeta 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306948	Copz2	coat protein complex I subunit zeta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306948	Copz2	coat protein complex I subunit zeta 2	gene	DOID:1115	sarcoma		ISO	RGD:1315851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306948	Copz2	coat protein complex I subunit zeta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306948	Copz2	coat protein complex I subunit zeta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306950	Nisch	nischarin	gene	DOID:10534	stomach cancer		ISO	RGD:1315855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306950	Nisch	nischarin	gene	DOID:10754	otitis media		ISS	RGD:1616802	D	RGD:13592920	20180518	MouseDO		OMIM:166760	
1306950	Nisch	nischarin	gene	DOID:10763	hypertension		IMP		D	RGD:1581128|PMID:12021582	20150324	RGD			
1306950	Nisch	nischarin	gene	DOID:1909	melanoma		ISO	RGD:1315855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306950	Nisch	nischarin	gene	DOID:3275	thymoma		ISO	RGD:1315855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306950	Nisch	nischarin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306950	Nisch	nischarin	gene	DOID:4362	cervical cancer		ISO	RGD:1315855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306950	Nisch	nischarin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306950	Nisch	nischarin	gene	DOID:5041	esophageal cancer		ISO	RGD:1315855	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306950	Nisch	nischarin	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:25741868
1306950	Nisch	nischarin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306950	Nisch	nischarin	gene	DOID:6000	congestive heart failure		ISO	RGD:1315855	D	RGD:1581128|PMID:12021582	20150324	RGD			
1306950	Nisch	nischarin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306950	Nisch	nischarin	gene	DOID:9006024	Hypotension		ISO	RGD:1315855	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11486246|PMID:22613216
1306950	Nisch	nischarin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306950	Nisch	nischarin	gene	DOID:9007001	Bradycardia		ISO	RGD:1315855	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11486246
1306950	Nisch	nischarin	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1315855	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:29912916
1306950	Nisch	nischarin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306951	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306951	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:0090009	immunodeficiency-centromeric instability-facial anomalies syndrome 2		ISO	RGD:1315856	D	RGD:7240710	20140911	OMIM			
1306951	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:0090009	immunodeficiency-centromeric instability-facial anomalies syndrome 2		ISO	RGD:1315856	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | ClinVar Annotator: match by term: ZBTB24-related condition	PMID:16199547|PMID:17576681|PMID:21596365|PMID:21906047|PMID:22786748|PMID:23486536|PMID:23739126|PMID:24742017|PMID:25330735|PMID:25741868|PMID:28128455|PMID:28492532|PMID:28518168|PMID:29023266|PMID:29255178|PMID:29659838|PMID:29921932|PMID:30010917|PMID:30353301|PMID:30511102|PMID:30719684|PMID:30987377|PMID:31066130|PMID:31130284|PMID:32061411|PMID:32461654|PMID:33995370|PMID:9536098
1306951	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306951	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:1115	sarcoma		ISO	RGD:1315856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306951	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:1324	lung cancer		ISO	RGD:1315856	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306951	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306951	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:630	genetic disease		ISO	RGD:1315856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1306951	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:9001255	Kabuki Syndrome 1		ISO	RGD:1315856	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kabuki syndrome 1	PMID:25741868|PMID:28492532|PMID:29255178|PMID:31066130
1306951	Zbtb24	zinc finger and BTB domain containing 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306952	Cmbl	carboxymethylenebutenolidase homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306952	Cmbl	carboxymethylenebutenolidase homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306952	Cmbl	carboxymethylenebutenolidase homolog	gene	DOID:3275	thymoma		ISO	RGD:1606460	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306952	Cmbl	carboxymethylenebutenolidase homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306952	Cmbl	carboxymethylenebutenolidase homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1606460	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306952	Cmbl	carboxymethylenebutenolidase homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306952	Cmbl	carboxymethylenebutenolidase homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306952	Cmbl	carboxymethylenebutenolidase homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306954	Cfap298	cilia and flagella associated protein 298	gene	DOID:0110627	primary ciliary dyskinesia 26		ISO	RGD:1315861	D	RGD:7240710	20140911	OMIM			
1306955	Gkap1	G kinase anchoring protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306955	Gkap1	G kinase anchoring protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306955	Gkap1	G kinase anchoring protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306955	Gkap1	G kinase anchoring protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306955	Gkap1	G kinase anchoring protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306955	Gkap1	G kinase anchoring protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306955	Gkap1	G kinase anchoring protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306955	Gkap1	G kinase anchoring protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306956	Ovol1	ovo like transcriptional repressor 1	gene	DOID:1324	lung cancer		ISO	RGD:1315865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306956	Ovol1	ovo like transcriptional repressor 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:1315865	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23042114
1306956	Ovol1	ovo like transcriptional repressor 1	gene	DOID:5374	pilomatrixoma		ISO	RGD:1315865	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26873447
1306956	Ovol1	ovo like transcriptional repressor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:10283	prostate cancer		ISO	RGD:1315867	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:1115	sarcoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:1324	lung cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:1909	melanoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315867	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315867	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306957	Sgsm2	small G protein signaling modulator 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306958	Ppp2r3a	protein phosphatase 2, regulatory subunit B'', alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306958	Ppp2r3a	protein phosphatase 2, regulatory subunit B'', alpha	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1315869	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1306958	Ppp2r3a	protein phosphatase 2, regulatory subunit B'', alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1306958	Ppp2r3a	protein phosphatase 2, regulatory subunit B'', alpha	gene	DOID:1115	sarcoma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1306958	Ppp2r3a	protein phosphatase 2, regulatory subunit B'', alpha	gene	DOID:1909	melanoma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1306958	Ppp2r3a	protein phosphatase 2, regulatory subunit B'', alpha	gene	DOID:3070	high grade glioma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306958	Ppp2r3a	protein phosphatase 2, regulatory subunit B'', alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1306958	Ppp2r3a	protein phosphatase 2, regulatory subunit B'', alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1306958	Ppp2r3a	protein phosphatase 2, regulatory subunit B'', alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1306958	Ppp2r3a	protein phosphatase 2, regulatory subunit B'', alpha	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306958	Ppp2r3a	protein phosphatase 2, regulatory subunit B'', alpha	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1306958	Ppp2r3a	protein phosphatase 2, regulatory subunit B'', alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306958	Ppp2r3a	protein phosphatase 2, regulatory subunit B'', alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1306958	Ppp2r3a	protein phosphatase 2, regulatory subunit B'', alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306959	Akip1	A-kinase interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306959	Akip1	A-kinase interacting protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1315871	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1306959	Akip1	A-kinase interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306959	Akip1	A-kinase interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1315871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306959	Akip1	A-kinase interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1315871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306959	Akip1	A-kinase interacting protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306959	Akip1	A-kinase interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306959	Akip1	A-kinase interacting protein 1	gene	DOID:9775	diastolic heart failure		ISO	RGD:1315871	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:0061235	brain small vessel disease 5 with osteoporosis		ISO	RGD:1315873	D	RGD:7240710	20251001	OMIM			
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:0061235	brain small vessel disease 5 with osteoporosis		ISO	RGD:1315873	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: ARHGEF15-related condition | ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 5 WITH OSTEOPOROSIS	PMID:25741868|PMID:28492532
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1315873	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:16199547|PMID:17576681|PMID:23265383|PMID:23647072|PMID:25741868|PMID:28492532|PMID:36929019|PMID:9536098
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1315873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868|PMID:28492532
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:10283	prostate cancer		ISO	RGD:1315873	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:28492532
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:10283	prostate cancer		ISO	RGD:1315873	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:28492532
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:1826	epilepsy		ISO	RGD:1315873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:480	movement disease		ISO	RGD:1315873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:9005077	Joint Instability		ISO	RGD:1315873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:28492532
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1315873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306961	Arhgef15	Rho guanine nucleotide exchange factor 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306962	Slc18b1	solute carrier family 18 member B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306962	Slc18b1	solute carrier family 18 member B1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306962	Slc18b1	solute carrier family 18 member B1	gene	DOID:1909	melanoma		ISO	RGD:1315874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306962	Slc18b1	solute carrier family 18 member B1	gene	DOID:2394	ovarian cancer		ISO	RGD:1315874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306962	Slc18b1	solute carrier family 18 member B1	gene	DOID:3275	thymoma		ISO	RGD:1315874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306962	Slc18b1	solute carrier family 18 member B1	gene	DOID:4362	cervical cancer		ISO	RGD:1315874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306962	Slc18b1	solute carrier family 18 member B1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306962	Slc18b1	solute carrier family 18 member B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306962	Slc18b1	solute carrier family 18 member B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306962	Slc18b1	solute carrier family 18 member B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306962	Slc18b1	solute carrier family 18 member B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306962	Slc18b1	solute carrier family 18 member B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306963	Mrps23	mitochondrial ribosomal protein S23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306963	Mrps23	mitochondrial ribosomal protein S23	gene	DOID:0112115	combined oxidative phosphorylation deficiency 46		ISO	RGD:1315875	D	RGD:7240710	20200812	OMIM			
1306963	Mrps23	mitochondrial ribosomal protein S23	gene	DOID:0112115	combined oxidative phosphorylation deficiency 46		ISO	RGD:1315875	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 46 | ClinVar Annotator: match by term: MRPS23-related condition	PMID:28492532
1306963	Mrps23	mitochondrial ribosomal protein S23	gene	DOID:10534	stomach cancer		ISO	RGD:1315875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306963	Mrps23	mitochondrial ribosomal protein S23	gene	DOID:3650	lactic acidosis		ISO	RGD:1315875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868|PMID:26741492|PMID:28492532
1306963	Mrps23	mitochondrial ribosomal protein S23	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306963	Mrps23	mitochondrial ribosomal protein S23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306963	Mrps23	mitochondrial ribosomal protein S23	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1315875	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151356
1306964	Piwil2	piwi-like RNA-mediated gene silencing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306964	Piwil2	piwi-like RNA-mediated gene silencing 2	gene	DOID:10608	celiac disease		ISO	RGD:1315877	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
1306964	Piwil2	piwi-like RNA-mediated gene silencing 2	gene	DOID:12336	male infertility		ISO	RGD:1315877	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
1306964	Piwil2	piwi-like RNA-mediated gene silencing 2	gene	DOID:1909	melanoma		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306964	Piwil2	piwi-like RNA-mediated gene silencing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315877	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306964	Piwil2	piwi-like RNA-mediated gene silencing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1306964	Piwil2	piwi-like RNA-mediated gene silencing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306964	Piwil2	piwi-like RNA-mediated gene silencing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315877	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306964	Piwil2	piwi-like RNA-mediated gene silencing 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1306964	Piwil2	piwi-like RNA-mediated gene silencing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306964	Piwil2	piwi-like RNA-mediated gene silencing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306964	Piwil2	piwi-like RNA-mediated gene silencing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:0110721	neuronal ceroid lipofuscinosis 1		ISO	RGD:1315879	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1	PMID:20157158|PMID:21990111|PMID:24058541|PMID:25741868|PMID:28492532|PMID:33792748|PMID:36339300
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:0110728	neuronal ceroid lipofuscinosis 5		ISO	RGD:1315879	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:0110728	neuronal ceroid lipofuscinosis 5		ISO	RGD:1315879	D	RGD:7240710	20140730	OMIM			
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:0110728	neuronal ceroid lipofuscinosis 5		ISO	RGD:1315879	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 5 | ClinVar Annotator: match by term: CLN5-related disorder | ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 5 | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 5 | ClinVar Annotator: match by term: NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5	PMID:11971870|PMID:12134079|PMID:15207259|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:18414213|PMID:18684116|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:21447811|PMID:21990111|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25359263|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:27069701|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:28957316|PMID:29482223|PMID:30078242|PMID:30264640|PMID:30919163|PMID:31319225|PMID:31493945|PMID:32302805|PMID:32983231|PMID:33792748|PMID:36339300|PMID:38402011|PMID:39525553|PMID:39675099|PMID:9536098|PMID:9662406
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:0110728	neuronal ceroid lipofuscinosis 5		ISS	RGD:1315880	D	RGD:13592920	20230718	MouseDO		OMIM:256731	
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:1059	intellectual disability		ISO	RGD:1315879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:18414213|PMID:25741868|PMID:28492532|PMID:9662406
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1315879	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10953198|PMID:11971870|PMID:12134079|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:17607606|PMID:18414213|PMID:19201763|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20960652|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23160995|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:27149842|PMID:27533158|PMID:27553520|PMID:28492532|PMID:28542837|PMID:29655203|PMID:30078242|PMID:30264640|PMID:30655561|PMID:30919163|PMID:31069529|PMID:31105743|PMID:31741823|PMID:32005694|PMID:32983231|PMID:33792748|PMID:34888859|PMID:34906502|PMID:35427157|PMID:36339300|PMID:37074398|PMID:39675099|PMID:9536098|PMID:9662406
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:480	movement disease		ISO	RGD:1315879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:18414213|PMID:25741868|PMID:28492532
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:630	genetic disease		ISO	RGD:1315879	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:21990111|PMID:24767253|PMID:25741868|PMID:26467025|PMID:27069701|PMID:27884173|PMID:28492532|PMID:30264640|PMID:30919163|PMID:32983231|PMID:33792748|PMID:9536098
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:630	genetic disease		ISO	RGD:1315879	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:21990111|PMID:24767253|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30264640|PMID:9536098
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:8501	fundus dystrophy		ISO	RGD:1315879	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1315879	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	PMID:18414213|PMID:24767253|PMID:25741868|PMID:26467025|PMID:28492532
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:9000343	Vision Disorders		ISO	RGD:1315879	D	RGD:11554173	20240206	CTD		CTD Direct Evidence: marker/mechanism	PMID:24804307
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:9001722	Dysarthria		ISO	RGD:1315879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:18414213|PMID:25741868|PMID:28492532
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:9003507	Premature Birth		ISO	RGD:1315879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:18414213|PMID:25741868|PMID:28492532
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315879	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18414213|PMID:25741868|PMID:28492532
1306965	Cln5	CLN5 lysosomal BMP synthase	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1315879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:18414213|PMID:25741868|PMID:28492532
1306966	Susd1	sushi domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1306967	Krabd3	KRAB domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603293	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306967	Krabd3	KRAB domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306967	Krabd3	KRAB domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306967	Krabd3	KRAB domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306967	Krabd3	KRAB domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306967	Krabd3	KRAB domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306967	Krabd3	KRAB domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306967	Krabd3	KRAB domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306967	Krabd3	KRAB domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306967	Krabd3	KRAB domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306968	Lyzl6	lysozyme-like 6	gene	DOID:1115	sarcoma		ISO	RGD:1342780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306968	Lyzl6	lysozyme-like 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306968	Lyzl6	lysozyme-like 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306969	Suv39h2	SUV39H2 histone lysine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306969	Suv39h2	SUV39H2 histone lysine methyltransferase	gene	DOID:9000954	Parakeratosis		ISO	RGD:12434198	D	RGD:9068941	20250717	OMIA		Nasal parakeratosis	PMID:12662268|PMID:12895224|PMID:24098150|PMID:29423952|PMID:32119674|PMID:34861369|PMID:37582787
1306969	Suv39h2	SUV39H2 histone lysine methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306970	Ssc4d	scavenger receptor cysteine rich family member with 4 domains	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306970	Ssc4d	scavenger receptor cysteine rich family member with 4 domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306970	Ssc4d	scavenger receptor cysteine rich family member with 4 domains	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306973	Btn2a2	butyrophilin, subfamily 2, member A2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306973	Btn2a2	butyrophilin, subfamily 2, member A2	gene	DOID:10534	stomach cancer		ISO	RGD:1315891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306973	Btn2a2	butyrophilin, subfamily 2, member A2	gene	DOID:1115	sarcoma		ISO	RGD:1315891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306973	Btn2a2	butyrophilin, subfamily 2, member A2	gene	DOID:1324	lung cancer		ISO	RGD:1315891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306973	Btn2a2	butyrophilin, subfamily 2, member A2	gene	DOID:3070	high grade glioma		ISO	RGD:1315891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1306973	Btn2a2	butyrophilin, subfamily 2, member A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306973	Btn2a2	butyrophilin, subfamily 2, member A2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306974	Rtp4	receptor (chemosensory) transporter protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306974	Rtp4	receptor (chemosensory) transporter protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306974	Rtp4	receptor (chemosensory) transporter protein 4	gene	DOID:9001488	Human Influenza		ISO	RGD:1605965	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1306975	Btbd9	BTB domain containing 9	gene	DOID:0050425	restless legs syndrome		ISO	RGD:1315893	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17637780
1306975	Btbd9	BTB domain containing 9	gene	DOID:0050425	restless legs syndrome		ISS	RGD:1315894	D	RGD:13592920	20230718	MouseDO			
1306975	Btbd9	BTB domain containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306975	Btbd9	BTB domain containing 9	gene	DOID:10534	stomach cancer		ISO	RGD:1315893	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306975	Btbd9	BTB domain containing 9	gene	DOID:1059	intellectual disability		ISO	RGD:1315893	D	RGD:8554872	20181009	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	
1306975	Btbd9	BTB domain containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1315893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306975	Btbd9	BTB domain containing 9	gene	DOID:1909	melanoma		ISO	RGD:1315893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306975	Btbd9	BTB domain containing 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306975	Btbd9	BTB domain containing 9	gene	DOID:4362	cervical cancer		ISO	RGD:1315893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306975	Btbd9	BTB domain containing 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306975	Btbd9	BTB domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306975	Btbd9	BTB domain containing 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306975	Btbd9	BTB domain containing 9	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1306975	Btbd9	BTB domain containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306977	Ptov1	PTOV1, extended AT-hook containing adaptor protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306977	Ptov1	PTOV1, extended AT-hook containing adaptor protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306977	Ptov1	PTOV1, extended AT-hook containing adaptor protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306977	Ptov1	PTOV1, extended AT-hook containing adaptor protein	gene	DOID:1909	melanoma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306977	Ptov1	PTOV1, extended AT-hook containing adaptor protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306977	Ptov1	PTOV1, extended AT-hook containing adaptor protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1315896	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306977	Ptov1	PTOV1, extended AT-hook containing adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306977	Ptov1	PTOV1, extended AT-hook containing adaptor protein	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315896	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306977	Ptov1	PTOV1, extended AT-hook containing adaptor protein	gene	DOID:9000918	Disease Progression		ISO	RGD:1315896	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1306977	Ptov1	PTOV1, extended AT-hook containing adaptor protein	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1306977	Ptov1	PTOV1, extended AT-hook containing adaptor protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306978	C1qtnf7	C1q and TNF related 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306978	C1qtnf7	C1q and TNF related 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306978	C1qtnf7	C1q and TNF related 7	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1315898	D	RGD:713349441|PMID:40504501	20260511	RGD		protein:increased expression:blood plasma	
1306978	C1qtnf7	C1q and TNF related 7	gene	DOID:9002669	Hypoxia		ISO	RGD:1315899	D	RGD:713349441|PMID:40504501	20260511	RGD		protein:increased expression:lung, blood plasma	
1306980	Piwil1	piwi-like RNA-mediated gene silencing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306980	Piwil1	piwi-like RNA-mediated gene silencing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306980	Piwil1	piwi-like RNA-mediated gene silencing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306980	Piwil1	piwi-like RNA-mediated gene silencing 1	gene	DOID:12336	male infertility		ISO	RGD:1315902	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
1306980	Piwil1	piwi-like RNA-mediated gene silencing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306980	Piwil1	piwi-like RNA-mediated gene silencing 1	gene	DOID:303	substance-related disorder		ISO	RGD:1315902	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1306980	Piwil1	piwi-like RNA-mediated gene silencing 1	gene	DOID:3275	thymoma		ISO	RGD:1315902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306980	Piwil1	piwi-like RNA-mediated gene silencing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306980	Piwil1	piwi-like RNA-mediated gene silencing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25736269|PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:0060732	chromosome 9p deletion syndrome		ISS	RGD:1616422	D	RGD:13592920	20180518	MouseDO		OMIM:158170	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1345384	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:0090001	Fraser syndrome		ISS	RGD:1616422	D	RGD:13592920	20181122	MouseDO		OMIM:219000	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:0111717	isolated cryptophthalmia		ISO	RGD:1616422	D	RGD:11554181|PMID:23221805	20161020	RGD		DNA:deletion, frame shift:cds, splice junction:	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:0111717	isolated cryptophthalmia		ISO	RGD:1616422	D	RGD:11554185|PMID:23536828	20161020	RGD		DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse)	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25736269|PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:10907	microcephaly		ISO	RGD:1345384	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:1115	sarcoma		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:12849	autistic disorder		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21507892|PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:1324	lung cancer		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25736269|PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:14766	renal agenesis		ISO	RGD:1345384	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23221805
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:1909	melanoma		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1345384	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:3275	thymoma		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:3827	congenital diaphragmatic hernia		IEP		D	RGD:11554195|PMID:26382659	20161024	RGD		mRNA,protein:decreased expression:diaphragm:	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1345384	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:23221805|PMID:26382659
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1345384	D	RGD:11554181|PMID:23221805	20161020	RGD		DNA:deletion, frame shift:cds, splice junction:	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1616422	D	RGD:11554181|PMID:23221805	20161020	RGD		DNA:deletion, frame shift:cds, splice junction:	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:3827	congenital diaphragmatic hernia		ISS	RGD:1616422	D	RGD:13592920	20230718	MouseDO		OMIM:142340 | OMIM:222400 | OMIM:610187	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:420	hypertrichosis		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25736269|PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:630	genetic disease		ISO	RGD:1345384	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11332973|PMID:21507892|PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:630	genetic disease		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21507892|PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1345384	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9000566	Bifid Nose with or without Anorectal and Renal Anomalies		ISO	RGD:1345384	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23221805
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9000566	Bifid Nose with or without Anorectal and Renal Anomalies		ISO	RGD:1345384	D	RGD:7240710	20130221	OMIM			
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9000566	Bifid Nose with or without Anorectal and Renal Anomalies		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES | ClinVar Annotator: match by term: BNAR syndrome | ClinVar Annotator: match by term: Bifid nose with or without anorectal and renal anomalies	PMID:16199547|PMID:19732862|PMID:21507892|PMID:23333812|PMID:25741868|PMID:28111185|PMID:28492532|PMID:36503923
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intracranial hemorrhage	PMID:25741868
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9003259	Marles Greenberg Persaud Syndrome		ISO	RGD:1345384	D	RGD:11070482|PMID:21507892	20161024	RGD		DNA:deletion,frameshift,missense mutations:exons,cds:	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9003259	Marles Greenberg Persaud Syndrome		ISO	RGD:1345384	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23221805
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9003259	Marles Greenberg Persaud Syndrome		ISO	RGD:1345384	D	RGD:7240710	20141015	OMIM			
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9003259	Marles Greenberg Persaud Syndrome		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MANITOBA OCULOTRICHOANAL SYNDROME | ClinVar Annotator: match by term: MARLES SYNDROME | ClinVar Annotator: match by term: Manitoba oculotrichoanal syndrome | ClinVar Annotator: match by term: Marles syndrome	PMID:23333812|PMID:25736269|PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9003259	Marles Greenberg Persaud Syndrome		ISO	RGD:1616422	D	RGD:11070482|PMID:21507892	20161024	RGD		DNA:mutation:splice junction:	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9003807	Bifid Nose		ISO	RGD:1345384	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23221805
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:21507892|PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25736269|PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9005496	Diaphragmatic Hernia 1		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diaphragmatic hernia 1	PMID:25736269|PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9005762	Trigonocephaly 2		ISO	RGD:1345384	D	RGD:7240710	20140903	OMIM			
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9005762	Trigonocephaly 2		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Trigonocephaly 2	PMID:21507892|PMID:23333812|PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25736269|PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9007261	Nonsyndromic Trigonocephaly		ISO	RGD:1345384	D	RGD:11554186|PMID:21931569	20161020	RGD		DNA:deletion, duplication,missense mutation:cds:	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9007261	Nonsyndromic Trigonocephaly		ISO	RGD:1616422	D	RGD:11554186|PMID:21931569	20161020	RGD		DNA:mutations:cds:	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1345384	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23221805
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1616422	D	RGD:11554185|PMID:23536828	20161020	RGD		DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse)	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25736269|PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1345384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1306981	Frem1	Fras1 related extracellular matrix 1	gene	DOID:93	language disorder		ISO	RGD:1345384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:21507892|PMID:25741868|PMID:28492532
1306982	Cfl2	cofilin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1306982	Cfl2	cofilin 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1315906	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
1306982	Cfl2	cofilin 2	gene	DOID:0110934	nemaline myopathy 7		ISO	RGD:1315906	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306982	Cfl2	cofilin 2	gene	DOID:0110934	nemaline myopathy 7		ISO	RGD:1315906	D	RGD:7240710	20130731	OMIM			
1306982	Cfl2	cofilin 2	gene	DOID:0110934	nemaline myopathy 7		ISO	RGD:1315906	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEMALINE MYOPATHY 7 | ClinVar Annotator: match by term: Nemaline myopathy 7	PMID:17576681|PMID:22560515|PMID:24610938|PMID:25741868|PMID:27447704|PMID:28492532|PMID:29457652|PMID:9536098
1306982	Cfl2	cofilin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1306982	Cfl2	cofilin 2	gene	DOID:1115	sarcoma		ISO	RGD:1315906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1306982	Cfl2	cofilin 2	gene	DOID:630	genetic disease		ISO	RGD:1315906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1306982	Cfl2	cofilin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306982	Cfl2	cofilin 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315906	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:28492532
1306982	Cfl2	cofilin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1306983	Tmem165	transmembrane protein 165	gene	DOID:0070263	congenital disorder of glycosylation type IIk		ISO	RGD:1601750	D	RGD:7240710	20140911	OMIM			
1306983	Tmem165	transmembrane protein 165	gene	DOID:0070263	congenital disorder of glycosylation type IIk		ISO	RGD:1601750	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk | ClinVar Annotator: match by term: TMEM165-CDG | ClinVar Annotator: match by term: TMEM165-related condition	PMID:25741868|PMID:28492532
1306983	Tmem165	transmembrane protein 165	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1601750	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
1306983	Tmem165	transmembrane protein 165	gene	DOID:10534	stomach cancer		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1306983	Tmem165	transmembrane protein 165	gene	DOID:1909	melanoma		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306983	Tmem165	transmembrane protein 165	gene	DOID:3070	high grade glioma		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28492532
1306983	Tmem165	transmembrane protein 165	gene	DOID:4362	cervical cancer		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1306983	Tmem165	transmembrane protein 165	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306983	Tmem165	transmembrane protein 165	gene	DOID:6039	uveal melanoma		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306983	Tmem165	transmembrane protein 165	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1601750	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1306984	Btn1a1	butyrophilin, subfamily 1, member A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306984	Btn1a1	butyrophilin, subfamily 1, member A1	gene	DOID:10534	stomach cancer		ISO	RGD:1315909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306984	Btn1a1	butyrophilin, subfamily 1, member A1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306984	Btn1a1	butyrophilin, subfamily 1, member A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306985	Bcl2l13	Bcl2-like 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306985	Bcl2l13	Bcl2-like 13	gene	DOID:10534	stomach cancer		ISO	RGD:1315911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306985	Bcl2l13	Bcl2-like 13	gene	DOID:1115	sarcoma		ISO	RGD:1315911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306985	Bcl2l13	Bcl2-like 13	gene	DOID:1324	lung cancer		ISO	RGD:1315911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306985	Bcl2l13	Bcl2-like 13	gene	DOID:3275	thymoma		ISO	RGD:1315911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306985	Bcl2l13	Bcl2-like 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1315911	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306985	Bcl2l13	Bcl2-like 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306985	Bcl2l13	Bcl2-like 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306985	Bcl2l13	Bcl2-like 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306985	Bcl2l13	Bcl2-like 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306987	Depdc1	DEP domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306987	Depdc1	DEP domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306987	Depdc1	DEP domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306987	Depdc1	DEP domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1306987	Depdc1	DEP domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306987	Depdc1	DEP domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306987	Depdc1	DEP domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315914	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1306987	Depdc1	DEP domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306988	Chst2	carbohydrate sulfotransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1315916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306988	Chst2	carbohydrate sulfotransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306988	Chst2	carbohydrate sulfotransferase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1315916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306989	Dhrs7c	dehydrogenase/reductase 7C	gene	DOID:5041	esophageal cancer		ISO	RGD:1602060	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306991	Lamp5	lysosome associated membrane protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306991	Lamp5	lysosome associated membrane protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1315920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306991	Lamp5	lysosome associated membrane protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1315920	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306991	Lamp5	lysosome associated membrane protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306991	Lamp5	lysosome associated membrane protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306991	Lamp5	lysosome associated membrane protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:0060590	XFE progeroid syndrome		ISS	RGD:1315922	D	RGD:13592920	20180518	MouseDO		OMIM:610965	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:0080914	cerebrooculofacioskeletal syndrome 4		ISO	RGD:1315921	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:0080914	cerebrooculofacioskeletal syndrome 4		ISO	RGD:1315921	D	RGD:7240710	20130221	OMIM			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:0080914	cerebrooculofacioskeletal syndrome 4		ISO	RGD:1315921	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 4 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 | ClinVar Annotator: match by term: ERCC1-related condition	PMID:17273966|PMID:23623389|PMID:25741868|PMID:28492532|PMID:33315086
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1315921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1315921	D	RGD:155260339|PMID:27340861	20221003	RGD		DNA:SNP:intron: (rs3212961) (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1315921	D	RGD:155260342|PMID:30417012	20221004	RGD		mRNA:increased expression:stomach (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1315921	D	RGD:11340202|PMID:26499900	20160629	RGD		DNA:SNP:exon:354C>T (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:10534	stomach cancer	no_association	ISO	RGD:1315921	D	RGD:13207425|PMID:24793015	20170728	RGD		DNA:snp:intron:c.-7-277G>T (human) (rs2298881)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1315921	D	RGD:13207309|PMID:24318989	20170725	RGD		DNA:snps:exon, intron:c.354T>C, c.-7-277G>T (human) (rs11615, rs2298881)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1315921	D	RGD:13207427|PMID:27173253	20170728	RGD		DNA:snp:3' utr:c.*197G>T (rs3212986) (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1315921	D	RGD:11252163|PMID:23338051	20160627	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:1074	kidney failure	treatment	ISO	RGD:1315921	D	RGD:5688741|PMID:19786980	20160627	RGD		associated with Ovarian Neoplasms;DNA:SNPs: :8092C>A, 19007T>C (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:1115	sarcoma		ISO	RGD:1315921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:11476	osteoporosis		ISO	RGD:1315922	D	RGD:10045609|PMID:23281008	20150612	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:14227	azoospermia	susceptibility	ISO	RGD:1315921	D	RGD:13207429|PMID:18616887	20170728	RGD		DNA:snp:3' utr:c.8092C>A (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1315921	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23203453
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:1574	alcohol use disorder		IEP		D	RGD:10045658|PMID:23095216	20150615	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1315921	D	RGD:13207317|PMID:15958648	20170725	RGD		DNA:snp:3' utr:c.8092C>A (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:1315921	D	RGD:13207426|PMID:27050953	20170728	RGD		DNA:snp:3' utr:c.*197G>T (rs3212986) (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:1909	melanoma		ISO	RGD:1315921	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21722328
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:1909	melanoma		ISO	RGD:1315921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:2152	ovary epithelial cancer	disease_progression	ISO	RGD:1315921	D	RGD:13204969|PMID:18640939	20170724	RGD		DNA:snp:3' utr:c.8092C>A (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1315921	D	RGD:2313668|PMID:19440222	20170725	RGD		human gene in a rat model	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:2355	anemia	treatment	ISO	RGD:1315921	D	RGD:11252176|PMID:25881102	20160627	RGD		associated with Ovarian Neoplasms;DNA:SNP: :rs11615 (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1315921	D	RGD:11252174|PMID:21216588	20160627	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1315921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cockayne syndrome	PMID:23623389
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:3070	high grade glioma	susceptibility	ISO	RGD:1315921	D	RGD:13207318|PMID:25867436	20170725	RGD		DNA:snp:3'utr:c.8092C>A (human) (rs3212986)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:3347	osteosarcoma	severity	ISO	RGD:1315921	D	RGD:13207418|PMID:23098477	20170728	RGD		DNA:silent mutation:cds:p.N118N (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:3748	esophagus squamous cell carcinoma	treatment	ISO	RGD:1315921	D	RGD:11252162|PMID:23263828	20160627	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:3905	lung carcinoma		IDA		D	RGD:10045659|PMID:21530494	20150615	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1315921	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21553054|PMID:23912706
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1315921	D	RGD:127229950|PMID:23549037	20210604	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1315921	D	RGD:13207308|PMID:16957145	20170725	RGD		protein:decreased expression:lung (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1315921	D	RGD:13207428|PMID:15140544	20170728	RGD		DNA:silent mutation:cds:p.N118N (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1315921	D	RGD:127229948|PMID:24443257	20210604	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1315921	D	RGD:153323316|PMID:28924235	20221004	RGD		DNA:SNPs:multiple (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1315921	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:21327329
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1315921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:4481	allergic rhinitis	susceptibility	ISO	RGD:1315921	D	RGD:645244151|PMID:35693108	20260507	RGD		DNA:SNP: :rs2298881	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:4914	esophagus adenocarcinoma	susceptibility	ISO	RGD:1315921	D	RGD:13207314|PMID:18478337	20170725	RGD		DNA:snps:cds, 3' utr:c.354C>T, c.8092C>A (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:4971	myelofibrosis		ISO	RGD:1315921	D	RGD:11252175|PMID:23571153	20160627	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1315921	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868|PMID:28492532|PMID:33315086
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1315921	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20979931
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315921	D	RGD:155598683|PMID:15922480	20221019	RGD		mRNA, protein:increased expression:liver (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:811	lipodystrophy		ISO	RGD:1315922	D	RGD:10401088|PMID:24011075	20150924	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:8398	osteoarthritis		ISO	RGD:1315922	D	RGD:10045611|PMID:24964749	20150612	RGD		mRNA:decreased expression:knee, articular cartilage of joint	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:90	degenerative disc disease		ISO	RGD:1315922	D	RGD:13207419|PMID:20973062	20170728	RGD		associated with Progeria	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1315921	D	RGD:11554173	20260303	CTD		CTD Direct Evidence: marker/mechanism	PMID:37400750
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315921	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21133646
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1315921	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24036326
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1315921	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19956886
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1315921	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20801905
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1315921	D	RGD:11252177|PMID:26202595	20160627	RGD		associated with Melanoma	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315921	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:33315086
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:1315922	D	RGD:13204968|PMID:22212909	20170724	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9002644	Premature Aging		ISO	RGD:1315922	D	RGD:10045610|PMID:22323595	20150612	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9002867	Myeloid Leukemia, Chronic-Phase	treatment	ISO	RGD:1315921	D	RGD:11252165|PMID:22821389	20160627	RGD		DNA:SNP: :rs11615 (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1315921	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20934765
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9003613	Laryngeal Neoplasms	susceptibility	ISO	RGD:1315921	D	RGD:13207310|PMID:24582975	20170725	RGD		DNA:snp:exon:c.354T>C (human) (rs11615)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9004009	Reperfusion Injury		IMP		D	RGD:2313668|PMID:19440222	20100203	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:1315921	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19956886
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9004486	Drug-induced Neutropenia	treatment	ISO	RGD:1315921	D	RGD:11340199|PMID:23543295	20160629	RGD		associated with Colorectal Neoplasms;DNA:SNP	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9004814	Chromosome Aberrations		ISO	RGD:1315921	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24036326
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1315921	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30453383
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9005372	Inflammation		ISO	RGD:1315922	D	RGD:10401088|PMID:24011075	20150924	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	IEP		D	RGD:7296926|PMID:22228707	20150615	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9006796	Gastrointestinal Neoplasms	disease_progression	ISO	RGD:1315921	D	RGD:11252166|PMID:20461087	20160627	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions	treatment	ISO	RGD:1315921	D	RGD:11252168|PMID:25495407	20160627	RGD		associated with Breast Neoplasms;DNA:SNP: :p.Q504K (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions	treatment	ISO	RGD:1315921	D	RGD:11252178|PMID:17197435	20160627	RGD		associated with Leukemia, Myeloid, Acute	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1315921	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12569548
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9008443	Colorectal Neoplasms	severity	ISO	RGD:1315921	D	RGD:13207315|PMID:16144923	20170725	RGD		DNA:snp:cds:c.354C>T (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9008443	Colorectal Neoplasms	susceptibility	ISO	RGD:1315921	D	RGD:13207423|PMID:24531312	20170728	RGD		DNA:snp:3' utr:c.8092C>A (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315921	D	RGD:11252170|PMID:18604718	20160627	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315921	D	RGD:11252171|PMID:21942242	20160627	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315921	D	RGD:11252193|PMID:23397959	20160628	RGD		DNA:polymorphism: :p.R399Q (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9119	acute myeloid leukemia	no_association	ISO	RGD:1315921	D	RGD:11252173|PMID:20141440	20160627	RGD		DNA:SNP: :p.Q504K (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1315921	D	RGD:11252179|PMID:16507781	20160627	RGD			
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1315921	D	RGD:155260343|PMID:16951227	20221004	RGD		mRNA:increased expression:colorectum (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1315921	D	RGD:155260348|PMID:29151331	20221004	RGD		DNA:SNP:exon: (rs3212986) (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9256	colorectal cancer	sexual_dimorphism	ISO	RGD:1315921	D	RGD:153344543|PMID:29516665	20220824	RGD		DNA:SNP:3'utr: (rs3212986) (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:1315921	D	RGD:10450871|PMID:21435719	20160627	RGD		DNA:SNP: :rs735482 (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1315921	D	RGD:11252160|PMID:16723154	20160627	RGD		DNA:SNPs: :8092C>A, 19007G>A (human)	
1306992	Ercc1	ERCC excision repair 1, endonuclease non-catalytic subunit	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:1315921	D	RGD:11340204|PMID:16435384	20160629	RGD		DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human)	
1306993	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306993	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306993	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:1115	sarcoma		ISO	RGD:1315923	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306993	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:1324	lung cancer		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306993	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:1909	melanoma		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306993	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306993	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306993	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306993	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:5041	esophageal cancer		ISO	RGD:1315923	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306993	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306993	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306993	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315923	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306993	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306993	Rad18	RAD18 E3 ubiquitin protein ligase	gene	DOID:9256	colorectal cancer		ISO	RGD:1315923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1306995	Tex55	testis expressed 55	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1306996	Psme3	proteasome activator subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1306996	Psme3	proteasome activator subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306996	Psme3	proteasome activator subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306996	Psme3	proteasome activator subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306996	Psme3	proteasome activator subunit 3	gene	DOID:3275	thymoma		ISO	RGD:1315927	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1306996	Psme3	proteasome activator subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306996	Psme3	proteasome activator subunit 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306996	Psme3	proteasome activator subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1315927	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306996	Psme3	proteasome activator subunit 3	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1315927	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1306996	Psme3	proteasome activator subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306996	Psme3	proteasome activator subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306997	Wdr19	WD repeat domain 19	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1353133	D	RGD:11552600|PMID:23683095	20161012	RGD		DNA:missense mutations, frameshift mutations, snp:multiple (human)	
1306997	Wdr19	WD repeat domain 19	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1353133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Senior-Loken syndrome	PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:28559085|PMID:29068549|PMID:33517396|PMID:34529350|PMID:36909829
1306997	Wdr19	WD repeat domain 19	gene	DOID:0050577	cranioectodermal dysplasia		ISO	RGD:1353133	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1306997	Wdr19	WD repeat domain 19	gene	DOID:0050577	cranioectodermal dysplasia		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cranioectodermal dysplasia	
1306997	Wdr19	WD repeat domain 19	gene	DOID:0050581	brachydactyly		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549
1306997	Wdr19	WD repeat domain 19	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1353133	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome	PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549
1306997	Wdr19	WD repeat domain 19	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1353133	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549|PMID:33875766
1306997	Wdr19	WD repeat domain 19	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1353133	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549|PMID:31216405|PMID:33875766
1306997	Wdr19	WD repeat domain 19	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy | ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short ribs | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:29068549|PMID:34716235|PMID:35368817|PMID:35372954|PMID:36653407
1306997	Wdr19	WD repeat domain 19	gene	DOID:0050795	cone dystrophy		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone dystrophy	PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:40183892
1306997	Wdr19	WD repeat domain 19	gene	DOID:0050876	Caroli disease		ISO	RGD:1353133	D	RGD:11528287|PMID:25726036	20161012	RGD		associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human)	
1306997	Wdr19	WD repeat domain 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306997	Wdr19	WD repeat domain 19	gene	DOID:0060340	ciliopathy		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliopathy	PMID:25741868|PMID:32037395
1306997	Wdr19	WD repeat domain 19	gene	DOID:0060340	ciliopathy		ISO	RGD:1549987	D	RGD:11552606|PMID:22228095	20161012	RGD		DNA:missense mutation:cds:p.L750P (mouse)	
1306997	Wdr19	WD repeat domain 19	gene	DOID:0060340	ciliopathy		ISS	RGD:1549987	D	RGD:13592920	20180518	MouseDO			
1306997	Wdr19	WD repeat domain 19	gene	DOID:0061282	Senior-Loken syndrome 8		ISO	RGD:1353133	D	RGD:7240710	20170405	OMIM			
1306997	Wdr19	WD repeat domain 19	gene	DOID:0061282	Senior-Loken syndrome 8		ISO	RGD:1353133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SENIOR-LOKEN SYNDROME 8 | ClinVar Annotator: match by term: Senior-Loken syndrome 8	PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:29801666|PMID:32483926|PMID:33532864|PMID:38062428|PMID:9536098
1306997	Wdr19	WD repeat domain 19	gene	DOID:0070571	spermatogenic failure 72		ISO	RGD:1353133	D	RGD:7240710	20220518	OMIM			
1306997	Wdr19	WD repeat domain 19	gene	DOID:0070571	spermatogenic failure 72		ISO	RGD:1353133	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 72	PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:32483926|PMID:38062428|PMID:9536098
1306997	Wdr19	WD repeat domain 19	gene	DOID:0080806	cranioectodermal dysplasia 4		ISO	RGD:1353133	D	RGD:7240710	20140903	OMIM			
1306997	Wdr19	WD repeat domain 19	gene	DOID:0080806	cranioectodermal dysplasia 4		ISO	RGD:1353133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CRANIOECTODERMAL DYSPLASIA 4 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 4	PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:32483926|PMID:38062428|PMID:9536098
1306997	Wdr19	WD repeat domain 19	gene	DOID:0080806	cranioectodermal dysplasia 4		ISO	RGD:1549987	D	RGD:11552606|PMID:22228095	20161128	RGD		DNA:missense mutation:cds:p.L750P (mouse)	
1306997	Wdr19	WD repeat domain 19	gene	DOID:0110089	asphyxiating thoracic dystrophy 5		ISO	RGD:1353133	D	RGD:7240710	20140903	OMIM			
1306997	Wdr19	WD repeat domain 19	gene	DOID:0110089	asphyxiating thoracic dystrophy 5		ISO	RGD:1353133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY	PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26275793|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:29068549|PMID:29121203|PMID:31054281|PMID:31725169|PMID:32037395|PMID:32483926|PMID:33532864|PMID:34529350|PMID:34906470|PMID:35140360|PMID:36729443|PMID:36909829|PMID:38062428|PMID:9536098
1306997	Wdr19	WD repeat domain 19	gene	DOID:0110097	short-rib thoracic dysplasia 9 with or without polydactyly		ISO	RGD:1353133	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY	PMID:25741868|PMID:33532864
1306997	Wdr19	WD repeat domain 19	gene	DOID:0111121	nephronophthisis 13		ISO	RGD:1353133	D	RGD:11552603|PMID:22019273	20161012	RGD		DNA:missense mutation, nonsense mutation:cds:p.V345G, p.Y1023X (human)	
1306997	Wdr19	WD repeat domain 19	gene	DOID:0111121	nephronophthisis 13		ISO	RGD:1353133	D	RGD:11553845|PMID:26260382	20161014	RGD		DNA:missense mutations, snps, insertion:multiple (human)	
1306997	Wdr19	WD repeat domain 19	gene	DOID:0111121	nephronophthisis 13		ISO	RGD:1353133	D	RGD:7240710	20140911	OMIM			
1306997	Wdr19	WD repeat domain 19	gene	DOID:0111121	nephronophthisis 13		ISO	RGD:1353133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEPHRONOPHTHISIS 13 | ClinVar Annotator: match by term: Nephronophthisis 13	PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:32483926|PMID:33532864|PMID:38062428|PMID:9536098
1306997	Wdr19	WD repeat domain 19	gene	DOID:10534	stomach cancer		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306997	Wdr19	WD repeat domain 19	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1353133	D	RGD:11552600|PMID:23683095	20161012	RGD		DNA:missense mutation:cds:p.L710S (human)	
1306997	Wdr19	WD repeat domain 19	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868
1306997	Wdr19	WD repeat domain 19	gene	DOID:1059	intellectual disability		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:1115	sarcoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306997	Wdr19	WD repeat domain 19	gene	DOID:12678	hypercalcemia		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalcemia	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:12712	nephronophthisis		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:33875766
1306997	Wdr19	WD repeat domain 19	gene	DOID:1909	melanoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306997	Wdr19	WD repeat domain 19	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1353133	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1306997	Wdr19	WD repeat domain 19	gene	DOID:2355	anemia		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:2841	asthma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:2921	glomerulonephritis		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulonephritis	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1306997	Wdr19	WD repeat domain 19	gene	DOID:4362	cervical cancer		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306997	Wdr19	WD repeat domain 19	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1306997	Wdr19	WD repeat domain 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1353133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1306997	Wdr19	WD repeat domain 19	gene	DOID:5679	retinal disease		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:22019273|PMID:23559409|PMID:23683095|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:30266093
1306997	Wdr19	WD repeat domain 19	gene	DOID:5723	optic atrophy		ISO	RGD:1353133	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1306997	Wdr19	WD repeat domain 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306997	Wdr19	WD repeat domain 19	gene	DOID:576	proteinuria		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:630	genetic disease		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23683095|PMID:25741868|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:65	connective tissue disease		ISO	RGD:1353133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32483926|PMID:9536098
1306997	Wdr19	WD repeat domain 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306997	Wdr19	WD repeat domain 19	gene	DOID:784	chronic kidney disease		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:8499	night blindness		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Night blindness | ClinVar Annotator: match by term: Nyctalopia	PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549
1306997	Wdr19	WD repeat domain 19	gene	DOID:8501	fundus dystrophy		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:26355662|PMID:26489029|PMID:28492532|PMID:29620724|PMID:30586318|PMID:32055034|PMID:38057357
1306997	Wdr19	WD repeat domain 19	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:9004507	Hirsutism		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:9005077	Joint Instability		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306997	Wdr19	WD repeat domain 19	gene	DOID:9007573	Flatfoot		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:9007661	Dwarfism		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:9008421	Epistaxis		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:23683095|PMID:28492532
1306997	Wdr19	WD repeat domain 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1306997	Wdr19	WD repeat domain 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306997	Wdr19	WD repeat domain 19	gene	DOID:9249	Beemer-Langer syndrome		ISO	RGD:1353133	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: short-rib polydactyly syndrome type IV	PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549
1306997	Wdr19	WD repeat domain 19	gene	DOID:9970	obesity		ISO	RGD:1353133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:23683095|PMID:28492532
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:0080975	intracranial berry aneurysm 12		ISO	RGD:1315930	D	RGD:7240710	20200226	OMIM			
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:0080975	intracranial berry aneurysm 12		ISO	RGD:1315930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12 | ClinVar Annotator: match by term: THSD1-related condition	PMID:25741868
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:3627	aortic aneurysm		ISO	RGD:1315930	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:25741868|PMID:27895300
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:8725	vascular dementia		ISO	RGD:1315930	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:9008230	Lymphatic Malformation 13		ISO	RGD:1315930	D	RGD:7240710	20230215	OMIM			
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:9008230	Lymphatic Malformation 13		ISO	RGD:1315930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 13 | ClinVar Annotator: match by term: Lymphatic malformation 13	PMID:25741868|PMID:26036949|PMID:33569873
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-Immune hydrops fetalis	PMID:25741868|PMID:26036949
1306998	Thsd1	thrombospondin type 1 domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1306999	Gpx7	glutathione peroxidase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1315932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1306999	Gpx7	glutathione peroxidase 7	gene	DOID:1115	sarcoma		ISO	RGD:1315932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1306999	Gpx7	glutathione peroxidase 7	gene	DOID:1909	melanoma		ISO	RGD:1315932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1306999	Gpx7	glutathione peroxidase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1315932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1306999	Gpx7	glutathione peroxidase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1306999	Gpx7	glutathione peroxidase 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1315932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1306999	Gpx7	glutathione peroxidase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1306999	Gpx7	glutathione peroxidase 7	gene	DOID:7941	Barrett's adenocarcinoma		ISO	RGD:1315932	D	RGD:151665749|PMID:18664505	20220630	RGD		DNA:hypermethylation:promoter	
1306999	Gpx7	glutathione peroxidase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1306999	Gpx7	glutathione peroxidase 7	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1315932	D	RGD:151665749|PMID:18664505	20220630	RGD		DNA:hypermethylation:promoter	
1307000	Fcsk	fucose kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307000	Fcsk	fucose kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307000	Fcsk	fucose kinase	gene	DOID:11353	bladder diverticulum		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diverticulum of bladder	PMID:25741868|PMID:28492532|PMID:30503518
1307000	Fcsk	fucose kinase	gene	DOID:1324	lung cancer		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307000	Fcsk	fucose kinase	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Methylmalonic acidemia	PMID:25741868|PMID:28492532|PMID:30503518
1307000	Fcsk	fucose kinase	gene	DOID:1826	epilepsy		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:30503518
1307000	Fcsk	fucose kinase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532|PMID:30503518
1307000	Fcsk	fucose kinase	gene	DOID:2034	encephalomalacia		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalomalacia	PMID:25741868|PMID:28492532|PMID:30503518
1307000	Fcsk	fucose kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307000	Fcsk	fucose kinase	gene	DOID:3275	thymoma		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307000	Fcsk	fucose kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1315934	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307000	Fcsk	fucose kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307000	Fcsk	fucose kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307000	Fcsk	fucose kinase	gene	DOID:9001746	Congenital Disorder of Glycosylation with Defective Fucosylation 2		ISO	RGD:1315934	D	RGD:7240710	20190315	OMIM			
1307000	Fcsk	fucose kinase	gene	DOID:9001746	Congenital Disorder of Glycosylation with Defective Fucosylation 2		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 | ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 2 | ClinVar Annotator: match by term: FCSK-related condition	PMID:25741868|PMID:28492532|PMID:30503518|PMID:34802815|PMID:36426412
1307000	Fcsk	fucose kinase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315934	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
1307000	Fcsk	fucose kinase	gene	DOID:9004898	Jaundice		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868|PMID:28492532|PMID:30503518
1307000	Fcsk	fucose kinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:30503518
1307000	Fcsk	fucose kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307000	Fcsk	fucose kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307001	Pgls	6-phosphogluconolactonase	gene	DOID:11476	osteoporosis		ISO	RGD:1315936	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
1307001	Pgls	6-phosphogluconolactonase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307001	Pgls	6-phosphogluconolactonase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307001	Pgls	6-phosphogluconolactonase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307002	Fbxw9	F-box and WD repeat domain containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307002	Fbxw9	F-box and WD repeat domain containing 9	gene	DOID:10534	stomach cancer		ISO	RGD:1315938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307002	Fbxw9	F-box and WD repeat domain containing 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307002	Fbxw9	F-box and WD repeat domain containing 9	gene	DOID:1324	lung cancer		ISO	RGD:1315938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307002	Fbxw9	F-box and WD repeat domain containing 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307002	Fbxw9	F-box and WD repeat domain containing 9	gene	DOID:3275	thymoma		ISO	RGD:1315938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307002	Fbxw9	F-box and WD repeat domain containing 9	gene	DOID:4362	cervical cancer		ISO	RGD:1315938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307002	Fbxw9	F-box and WD repeat domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307002	Fbxw9	F-box and WD repeat domain containing 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1315938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307003	Brd8	bromodomain containing 8	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	IEP		D	RGD:9587763|PMID:19787264	20141016	RGD			
1307003	Brd8	bromodomain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307003	Brd8	bromodomain containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307003	Brd8	bromodomain containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307003	Brd8	bromodomain containing 8	gene	DOID:1909	melanoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307003	Brd8	bromodomain containing 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307003	Brd8	bromodomain containing 8	gene	DOID:289	endometriosis		ISO	RGD:1315939	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
1307003	Brd8	bromodomain containing 8	gene	DOID:3275	thymoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307003	Brd8	bromodomain containing 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307003	Brd8	bromodomain containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307003	Brd8	bromodomain containing 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307003	Brd8	bromodomain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1315939	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307003	Brd8	bromodomain containing 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307003	Brd8	bromodomain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307003	Brd8	bromodomain containing 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307003	Brd8	bromodomain containing 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307003	Brd8	bromodomain containing 8	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307003	Brd8	bromodomain containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307003	Brd8	bromodomain containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307003	Brd8	bromodomain containing 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307004	Fubp3	far upstream element binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307004	Fubp3	far upstream element binding protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1315940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307004	Fubp3	far upstream element binding protein 3	gene	DOID:1909	melanoma		ISO	RGD:1315940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307004	Fubp3	far upstream element binding protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307004	Fubp3	far upstream element binding protein 3	gene	DOID:3275	thymoma		ISO	RGD:1315940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307004	Fubp3	far upstream element binding protein 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307004	Fubp3	far upstream element binding protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1315940	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307004	Fubp3	far upstream element binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307004	Fubp3	far upstream element binding protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307004	Fubp3	far upstream element binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307004	Fubp3	far upstream element binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:10534	stomach cancer		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:1115	sarcoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315942	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17576681|PMID:28492532|PMID:9536098
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315942	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315942	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315942	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:35862026|PMID:9536098
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:1909	melanoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:4362	cervical cancer		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307005	Plekhm2	pleckstrin homology and RUN domain containing M2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307006	Ms4a4a	membrane spanning 4-domains A4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307006	Ms4a4a	membrane spanning 4-domains A4A	gene	DOID:0080600	COVID-19		ISO	RGD:1315944	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307006	Ms4a4a	membrane spanning 4-domains A4A	gene	DOID:10534	stomach cancer		ISO	RGD:1315944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307006	Ms4a4a	membrane spanning 4-domains A4A	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1315944	D	RGD:11554173	20170630	CTD		CTD Direct Evidence: marker/mechanism	PMID:21460841
1307006	Ms4a4a	membrane spanning 4-domains A4A	gene	DOID:1115	sarcoma		ISO	RGD:1315944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307006	Ms4a4a	membrane spanning 4-domains A4A	gene	DOID:3070	high grade glioma		ISO	RGD:1315944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307006	Ms4a4a	membrane spanning 4-domains A4A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307006	Ms4a4a	membrane spanning 4-domains A4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307006	Ms4a4a	membrane spanning 4-domains A4A	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1315944	D	RGD:11554173	20170630	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1307006	Ms4a4a	membrane spanning 4-domains A4A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307008	Dcun1d5	defective in cullin neddylation 1 domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1601949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307008	Dcun1d5	defective in cullin neddylation 1 domain containing 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307008	Dcun1d5	defective in cullin neddylation 1 domain containing 5	gene	DOID:3275	thymoma		ISO	RGD:1601949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307008	Dcun1d5	defective in cullin neddylation 1 domain containing 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307008	Dcun1d5	defective in cullin neddylation 1 domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307008	Dcun1d5	defective in cullin neddylation 1 domain containing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307009	Uimc1	ubiquitin interaction motif containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307009	Uimc1	ubiquitin interaction motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307009	Uimc1	ubiquitin interaction motif containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307009	Uimc1	ubiquitin interaction motif containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1601999	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1307009	Uimc1	ubiquitin interaction motif containing 1	gene	DOID:1909	melanoma		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307009	Uimc1	ubiquitin interaction motif containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307009	Uimc1	ubiquitin interaction motif containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307009	Uimc1	ubiquitin interaction motif containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307009	Uimc1	ubiquitin interaction motif containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1601999	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307009	Uimc1	ubiquitin interaction motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307009	Uimc1	ubiquitin interaction motif containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307009	Uimc1	ubiquitin interaction motif containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307009	Uimc1	ubiquitin interaction motif containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307010	Glod4	glyoxalase domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307010	Glod4	glyoxalase domain containing 4	gene	DOID:3070	high grade glioma		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307010	Glod4	glyoxalase domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307010	Glod4	glyoxalase domain containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307010	Glod4	glyoxalase domain containing 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307010	Glod4	glyoxalase domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307010	Glod4	glyoxalase domain containing 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307010	Glod4	glyoxalase domain containing 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307010	Glod4	glyoxalase domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307010	Glod4	glyoxalase domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307010	Glod4	glyoxalase domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307011	Fxr2	FMR1 autosomal homolog 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307011	Fxr2	FMR1 autosomal homolog 2	gene	DOID:1115	sarcoma		ISO	RGD:1315950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307011	Fxr2	FMR1 autosomal homolog 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315950	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307011	Fxr2	FMR1 autosomal homolog 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307011	Fxr2	FMR1 autosomal homolog 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307011	Fxr2	FMR1 autosomal homolog 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307011	Fxr2	FMR1 autosomal homolog 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307012	Papss2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307012	Papss2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type		ISO	RGD:1315952	D	RGD:7240710	20130221	OMIM			
1307012	Papss2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type		ISO	RGD:1315952	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: PAPSS2-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type	PMID:22791835|PMID:23633440|PMID:24033266|PMID:25594860|PMID:25741868|PMID:28492532|PMID:9771708
1307012	Papss2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type		ISS	RGD:1315953	D	RGD:13592920	20230718	MouseDO		OMIM:612847	
1307012	Papss2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315952	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307012	Papss2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868
1307012	Papss2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1307012	Papss2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:630	genetic disease		ISO	RGD:1315952	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307012	Papss2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307012	Papss2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307012	Papss2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1307012	Papss2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307012	Papss2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307014	Mob1a	MOB kinase activator 1A	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1315956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
1307014	Mob1a	MOB kinase activator 1A	gene	DOID:2394	ovarian cancer		ISO	RGD:1315956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307014	Mob1a	MOB kinase activator 1A	gene	DOID:3275	thymoma		ISO	RGD:1315956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307014	Mob1a	MOB kinase activator 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307014	Mob1a	MOB kinase activator 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307015	Wnt10a	Wnt family member 10A	gene	DOID:0050591	tooth agenesis		ISO	RGD:1315958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Reduced number of teeth | ClinVar Annotator: match by term: Tooth agenesis	PMID:19559398|PMID:22581971|PMID:23401279|PMID:24043634|PMID:24312213|PMID:24398796|PMID:25629078|PMID:25741868|PMID:27650966|PMID:28492532|PMID:30046887|PMID:30526585|PMID:34228861|PMID:36071541
1307015	Wnt10a	Wnt family member 10A	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:1315958	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18787224
1307015	Wnt10a	Wnt family member 10A	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1315958	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex	PMID:22581971|PMID:23401279|PMID:25741868|PMID:27650966|PMID:28492532|PMID:30426266
1307015	Wnt10a	Wnt family member 10A	gene	DOID:0111647	Schopf-Schulz-Passarge syndrome		ISO	RGD:1315958	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307015	Wnt10a	Wnt family member 10A	gene	DOID:0111647	Schopf-Schulz-Passarge syndrome		ISO	RGD:1315958	D	RGD:7240710	20130221	OMIM			
1307015	Wnt10a	Wnt family member 10A	gene	DOID:0111647	Schopf-Schulz-Passarge syndrome		ISO	RGD:1315958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome	PMID:16199547|PMID:17847007|PMID:19471313|PMID:19559398|PMID:20979233|PMID:21143469|PMID:22581971|PMID:22670871|PMID:23401279|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24700731|PMID:24902757|PMID:25629078|PMID:25741868|PMID:26087098|PMID:27650966|PMID:28105635|PMID:28492532|PMID:28813618|PMID:2897600|PMID:28976000|PMID:28981473|PMID:29178643|PMID:29271000|PMID:29367877|PMID:30046887|PMID:30265373|PMID:30426266|PMID:30526585|PMID:30569517|PMID:30974434|PMID:31103801|PMID:31652981|PMID:33034246|PMID:33725141|PMID:34228861|PMID:34593752|PMID:36071541|PMID:36553094|PMID:36832485|PMID:37005710
1307015	Wnt10a	Wnt family member 10A	gene	DOID:1909	melanoma		ISO	RGD:1315958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307015	Wnt10a	Wnt family member 10A	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1315958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:17847007|PMID:19559398|PMID:20163410|PMID:20979233|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:23167694|PMID:23401279|PMID:23991204|PMID:24398796|PMID:24449199|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25713620|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:29178643|PMID:29364747|PMID:29431110|PMID:30046887|PMID:30426266|PMID:30974434|PMID:33034246|PMID:34228861|PMID:35537890
1307015	Wnt10a	Wnt family member 10A	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:1315958	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma	PMID:24449199|PMID:28492532
1307015	Wnt10a	Wnt family member 10A	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1315958	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1307015	Wnt10a	Wnt family member 10A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868|PMID:28492532
1307015	Wnt10a	Wnt family member 10A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1307015	Wnt10a	Wnt family member 10A	gene	DOID:630	genetic disease		ISO	RGD:1315958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22581971|PMID:23401279|PMID:25741868|PMID:27650966|PMID:28492532|PMID:30426266
1307015	Wnt10a	Wnt family member 10A	gene	DOID:9002747	Selective Tooth Agenesis 2		ISO	RGD:1315958	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STHAG2	PMID:23401279|PMID:24043634|PMID:24312213|PMID:25629078|PMID:25741868|PMID:28492532|PMID:30526585|PMID:36071541
1307015	Wnt10a	Wnt family member 10A	gene	DOID:9006065	Arthralgia		ISO	RGD:1315958	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:24449199|PMID:28492532
1307015	Wnt10a	Wnt family member 10A	gene	DOID:9008653	Selective Tooth Agenesis 4		ISO	RGD:1315958	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307015	Wnt10a	Wnt family member 10A	gene	DOID:9008653	Selective Tooth Agenesis 4		ISO	RGD:1315958	D	RGD:7240710	20141015	OMIM			
1307015	Wnt10a	Wnt family member 10A	gene	DOID:9008653	Selective Tooth Agenesis 4		ISO	RGD:1315958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SUCCEDANEOUS TEETH, AGENESIS OF | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA | ClinVar Annotator: match by term: Tooth agenesis, selective, 4	PMID:19559398|PMID:22581971|PMID:23167694|PMID:23401279|PMID:24043634|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24902757|PMID:25629078|PMID:25741868|PMID:27650966|PMID:27657131|PMID:28492532|PMID:28976000|PMID:29178643|PMID:30046887|PMID:30426266|PMID:30526585|PMID:31103801|PMID:33034246|PMID:34228861|PMID:36071541|PMID:36294409
1307015	Wnt10a	Wnt family member 10A	gene	DOID:9008686	Odontoonychodermal Dysplasia		ISO	RGD:1315958	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307015	Wnt10a	Wnt family member 10A	gene	DOID:9008686	Odontoonychodermal Dysplasia		ISO	RGD:1315958	D	RGD:7240710	20130221	OMIM			
1307015	Wnt10a	Wnt family member 10A	gene	DOID:9008686	Odontoonychodermal Dysplasia		ISO	RGD:1315958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ODONTOONYCHODERMAL DYSPLASIA | ClinVar Annotator: match by term: Odonto-onycho-dermal dysplasia | ClinVar Annotator: match by term: Odontoonychodermal dysplasia	PMID:17576681|PMID:17847007|PMID:19559398|PMID:20979233|PMID:22581971|PMID:23401279|PMID:23991204|PMID:24043634|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24902757|PMID:25629078|PMID:25741868|PMID:27650966|PMID:27657131|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:2897600|PMID:28976000|PMID:29178643|PMID:29314690|PMID:30046887|PMID:30426266|PMID:30526585|PMID:30569517|PMID:30974434|PMID:31103801|PMID:34228861|PMID:34593752|PMID:36071541|PMID:9536098
1307016	Plscr3	phospholipid scramblase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1315960	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Intellectual disability syndrome	
1307016	Plscr3	phospholipid scramblase 3	gene	DOID:9970	obesity		ISS	RGD:1315961	D	RGD:13592920	20180518	MouseDO		OMIM:601665	
1307017	Zfp507	zinc finger protein 507	gene	DOID:1324	lung cancer		ISO	RGD:1315962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307017	Zfp507	zinc finger protein 507	gene	DOID:1909	melanoma		ISO	RGD:1315962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307017	Zfp507	zinc finger protein 507	gene	DOID:3275	thymoma		ISO	RGD:1315962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307017	Zfp507	zinc finger protein 507	gene	DOID:4362	cervical cancer		ISO	RGD:1315962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307017	Zfp507	zinc finger protein 507	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315962	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307017	Zfp507	zinc finger protein 507	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307017	Zfp507	zinc finger protein 507	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307018	Niban2	niban apoptosis regulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307018	Niban2	niban apoptosis regulator 2	gene	DOID:0080600	COVID-19		ISO	RGD:1315963	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307018	Niban2	niban apoptosis regulator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307018	Niban2	niban apoptosis regulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307018	Niban2	niban apoptosis regulator 2	gene	DOID:1115	sarcoma		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307018	Niban2	niban apoptosis regulator 2	gene	DOID:1909	melanoma		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307018	Niban2	niban apoptosis regulator 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307018	Niban2	niban apoptosis regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307018	Niban2	niban apoptosis regulator 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315963	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307018	Niban2	niban apoptosis regulator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307018	Niban2	niban apoptosis regulator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307021	Neurl1	neuralized E3 ubiquitin protein ligase 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1315966	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1307021	Neurl1	neuralized E3 ubiquitin protein ligase 1	gene	DOID:9007090	Experimental Seizures		IEP		D	RGD:2302390|PMID:12213446	20081216	RGD		mRNA:decreased expression:brain	
1307021	Neurl1	neuralized E3 ubiquitin protein ligase 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1315966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
1307022	Poldip2	DNA polymerase delta interacting protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307022	Poldip2	DNA polymerase delta interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307022	Poldip2	DNA polymerase delta interacting protein 2	gene	DOID:11574	streptococcal meningitis	treatment	ISO	RGD:1315968	D	RGD:124713556|PMID:32790044	20210322	RGD			
1307022	Poldip2	DNA polymerase delta interacting protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1315967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307022	Poldip2	DNA polymerase delta interacting protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307022	Poldip2	DNA polymerase delta interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307022	Poldip2	DNA polymerase delta interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307022	Poldip2	DNA polymerase delta interacting protein 2	gene	DOID:9002514	Neointima		ISO	RGD:1315968	D	RGD:124713557|PMID:30237457	20210322	RGD			
1307022	Poldip2	DNA polymerase delta interacting protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307022	Poldip2	DNA polymerase delta interacting protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307023	Rhot1	ras homolog family member T1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307023	Rhot1	ras homolog family member T1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307023	Rhot1	ras homolog family member T1	gene	DOID:10534	stomach cancer		ISO	RGD:1315969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307023	Rhot1	ras homolog family member T1	gene	DOID:1115	sarcoma		ISO	RGD:1315969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307023	Rhot1	ras homolog family member T1	gene	DOID:1324	lung cancer		ISO	RGD:1315969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307023	Rhot1	ras homolog family member T1	gene	DOID:1909	melanoma		ISO	RGD:1315969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307023	Rhot1	ras homolog family member T1	gene	DOID:231	motor neuron disease		ISS	RGD:1315970	D	RGD:13592920	20180518	MouseDO			
1307023	Rhot1	ras homolog family member T1	gene	DOID:3275	thymoma		ISO	RGD:1315969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307023	Rhot1	ras homolog family member T1	gene	DOID:4362	cervical cancer		ISO	RGD:1315969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307023	Rhot1	ras homolog family member T1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307023	Rhot1	ras homolog family member T1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315969	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307023	Rhot1	ras homolog family member T1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307023	Rhot1	ras homolog family member T1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307023	Rhot1	ras homolog family member T1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:0050685	small cell carcinoma		ISO	RGD:1315971	D	RGD:151347636|PMID:24823637	20220131	RGD		protein:increased expression:lung (human)	
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:0061054	immunodeficiency 84		ISO	RGD:1315971	D	RGD:7240710	20210804	OMIM			
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:0061054	immunodeficiency 84		ISO	RGD:1315971	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 84	PMID:25741868
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1315971	D	RGD:629006596|PMID:34919286	20251106	RGD		DNA:SNP: :multiple	
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:1115	sarcoma		ISO	RGD:1315971	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:1909	melanoma		ISO	RGD:1315971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:1936	atherosclerosis	susceptibility	ISO	RGD:1315971	D	RGD:11537196|PMID:26603569	20251010	RGD		DNA:SNP: :rs9303277	
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:2841	asthma		ISO	RGD:1315971	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25256354
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:3908	lung non-small cell carcinoma	exacerbates	ISO	RGD:1315971	D	RGD:151347636|PMID:24823637	20220131	RGD		protein:increased expression:lung (human)	
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1315971	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1315971	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:9004484	Sepsis		ISO	RGD:1315971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: sepsis	PMID:25741868
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor		ISO	RGD:1315971	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915428
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:9074	systemic lupus erythematosus		ISS	RGD:1315972	D	RGD:13592920	20180518	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
1307024	Ikzf3	IKAROS family zinc finger 3	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1315971	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:23334668
1307025	Actr1a	actin related protein 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307025	Actr1a	actin related protein 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307025	Actr1a	actin related protein 1A	gene	DOID:1115	sarcoma		ISO	RGD:1315973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307025	Actr1a	actin related protein 1A	gene	DOID:1324	lung cancer		ISO	RGD:1315973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307025	Actr1a	actin related protein 1A	gene	DOID:14250	Down syndrome		ISO	RGD:1315973	D	RGD:13831340|PMID:11829462	20181227	RGD		protein:decreased expression:cortex	
1307025	Actr1a	actin related protein 1A	gene	DOID:219	colon cancer		ISO	RGD:1315973	D	RGD:13831341|PMID:26422100	20181227	RGD			
1307025	Actr1a	actin related protein 1A	gene	DOID:3275	thymoma		ISO	RGD:1315973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307025	Actr1a	actin related protein 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1315973	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307025	Actr1a	actin related protein 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307025	Actr1a	actin related protein 1A	gene	DOID:6039	uveal melanoma		ISO	RGD:1315973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307025	Actr1a	actin related protein 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307025	Actr1a	actin related protein 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:0060496	respiratory allergy		ISO	RGD:1315975	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085522
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:0060900	Parkinson's disease 14		ISO	RGD:1315975	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: marker/mechanism	PMID:36152728
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:0080537	hypermanganesemia with dystonia 2		ISO	RGD:1315975	D	RGD:7240710	20190315	OMIM			
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:0080537	hypermanganesemia with dystonia 2		ISO	RGD:1315975	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HYPERMANGANESEMIA WITH DYSTONIA 2 | ClinVar Annotator: match by term: Hypermanganesemia with dystonia 2 | ClinVar Annotator: match by term: SLC39A14-related condition | ClinVar Annotator: match by term: hypermanganesemia with dystonia 2	PMID:25741868|PMID:28492532|PMID:29685658
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:1059	intellectual disability		ISO	RGD:1315975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:1324	lung cancer		ISO	RGD:1315975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:1682	congenital heart disease		ISO	RGD:1315975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868|PMID:28492532
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:2340	craniosynostosis		ISO	RGD:1315975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28492532
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:3275	thymoma		ISO	RGD:1315975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:4362	cervical cancer		ISO	RGD:1315975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:543	dystonia		ISO	RGD:1315975	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: dystonia	PMID:25741868
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:630	genetic disease		ISO	RGD:1315975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1315975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868|PMID:28492532
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:9000304	Manganese Poisoning		ISO	RGD:1315975	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:28860195
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:9000831	Hypokinesia		ISO	RGD:1315975	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: marker/mechanism	PMID:36152728
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315975	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:29498153
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:9005053	Hyperostosis Cranialis Interna		ISO	RGD:1315975	D	RGD:7240710	20200624	OMIM			
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:9005053	Hyperostosis Cranialis Interna		ISO	RGD:1315975	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperostosis cranialis interna	PMID:25741868|PMID:28492532|PMID:29685658
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:9007661	Dwarfism		ISO	RGD:1315975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1307026	Slc39a14	solute carrier family 39 member 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307027	Zmym1	zinc finger MYM-type containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307027	Zmym1	zinc finger MYM-type containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307027	Zmym1	zinc finger MYM-type containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307027	Zmym1	zinc finger MYM-type containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315977	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307027	Zmym1	zinc finger MYM-type containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307027	Zmym1	zinc finger MYM-type containing 1	gene	DOID:1909	melanoma		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307027	Zmym1	zinc finger MYM-type containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307027	Zmym1	zinc finger MYM-type containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307027	Zmym1	zinc finger MYM-type containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307027	Zmym1	zinc finger MYM-type containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307027	Zmym1	zinc finger MYM-type containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1315977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307028	Gfus	GDP-L-fucose synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307028	Gfus	GDP-L-fucose synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307028	Gfus	GDP-L-fucose synthase	gene	DOID:10534	stomach cancer		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307028	Gfus	GDP-L-fucose synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307028	Gfus	GDP-L-fucose synthase	gene	DOID:1324	lung cancer		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307028	Gfus	GDP-L-fucose synthase	gene	DOID:1909	melanoma		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307028	Gfus	GDP-L-fucose synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307028	Gfus	GDP-L-fucose synthase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307028	Gfus	GDP-L-fucose synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:0070298	multiple epiphyseal dysplasia 2		ISO	RGD:1315981	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:0070298	multiple epiphyseal dysplasia 2		ISO	RGD:1315981	D	RGD:7240710	20130221	OMIM			
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:0070298	multiple epiphyseal dysplasia 2		ISO	RGD:1315981	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2	PMID:10364514|PMID:11565064|PMID:12244547|PMID:16199547|PMID:17576681|PMID:20358595|PMID:21671392|PMID:21922596|PMID:21965141|PMID:25741868|PMID:26467025|PMID:26566670|PMID:28492532|PMID:30311386|PMID:33356723|PMID:35250876|PMID:8528240|PMID:9536098
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:0070305	multiple epiphyseal dysplasia due to collagen 9 anomaly		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COL9A2-related disorder	PMID:28492532|PMID:30311386
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:0080046	Stickler syndrome		ISO	RGD:1315981	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Stickler syndrome	PMID:21671392|PMID:25741868|PMID:26566670|PMID:28492532|PMID:30311386|PMID:31896775|PMID:33356723
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:1059	intellectual disability		ISO	RGD:1315981	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:11830	myopia		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:12721	multiple epiphyseal dysplasia		ISO	RGD:1315981	D	RGD:8554872	20250121	ClinVar		ClinVar Annotator: match by term: Epiphyseal dysplasia	PMID:25741868
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:1324	lung cancer		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:17576681|PMID:28492532|PMID:9536098
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:1909	melanoma		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:2256	osteochondrodysplasia	susceptibility	ISO	RGD:1315981	D	RGD:1600952|PMID:8528240	20070402	RGD		DNA:splice-site mutation	
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:3275	thymoma		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1315981	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:630	genetic disease		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:65	connective tissue disease		ISO	RGD:1315981	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:11565064|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29026132
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:65	connective tissue disease		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:11565064|PMID:25741868|PMID:26467025|PMID:28492532
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9002691	Stickler Syndrome, Type V		ISO	RGD:1315981	D	RGD:7240710	20140903	OMIM			
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9002691	Stickler Syndrome, Type V		ISO	RGD:1315981	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COL9A2-related condition | ClinVar Annotator: match by term: Stickler syndrome, type 5	PMID:10364514|PMID:12244547|PMID:17576681|PMID:20358595|PMID:21671392|PMID:21922596|PMID:25741868|PMID:26566670|PMID:28492532|PMID:29907799|PMID:30311386|PMID:32532877|PMID:33356723|PMID:9536098
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1315981	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing loss	PMID:28492532|PMID:30311386
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307029	Col9a2	collagen type IX alpha 2 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1315981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:17576681|PMID:28492532|PMID:9536098
1307030	Strn4	striatin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307030	Strn4	striatin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307030	Strn4	striatin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307030	Strn4	striatin 4	gene	DOID:1115	sarcoma		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307030	Strn4	striatin 4	gene	DOID:1324	lung cancer		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307030	Strn4	striatin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307030	Strn4	striatin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1315983	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307030	Strn4	striatin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307030	Strn4	striatin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307031	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307031	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:1115	sarcoma		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307031	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307031	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307031	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307031	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307031	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:8761	acute megakaryocytic leukemia		ISO	RGD:1315985	D	RGD:8554872	20160112	ClinVar		ClinVar Annotator: match by term: Acute megakaryoblastic leukemia	
1307031	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307031	Mdga1	MAM domain containing glycosylphosphatidylinositol anchor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307032	Grep1	glycine rich extracellular protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:5683682	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307032	Grep1	glycine rich extracellular protein 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:5683682	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34652879
1307032	Grep1	glycine rich extracellular protein 1	gene	DOID:3275	thymoma		ISO	RGD:5683682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307032	Grep1	glycine rich extracellular protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:5683682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307032	Grep1	glycine rich extracellular protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:5683682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307032	Grep1	glycine rich extracellular protein 1	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:5683682	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34652879
1307032	Grep1	glycine rich extracellular protein 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:5683682	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34652879
1307032	Grep1	glycine rich extracellular protein 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:5683682	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34652879
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:0060321	umbilical hernia		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:0070139	autosomal recessive cutis laxa type IC		ISO	RGD:1315988	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:0070139	autosomal recessive cutis laxa type IC		ISO	RGD:1315988	D	RGD:7240710	20130221	OMIM			
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:0070139	autosomal recessive cutis laxa type IC		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC | ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IC | ClinVar Annotator: match by term: LTBP4-related condition	PMID:16199547|PMID:19836010|PMID:22829427|PMID:24033266|PMID:25741868|PMID:25882708|PMID:28492532
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:0080600	COVID-19		ISO	RGD:1315988	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:11111	hydronephrosis		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:19836010|PMID:22829427|PMID:25741868|PMID:28492532|PMID:31273557
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:114	heart disease		ISO	RGD:1315989	D	RGD:1582112|PMID:12208849	20061101	RGD			
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:11830	myopia		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:12642	hiatus hernia		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:19836010|PMID:22829427|PMID:25741868|PMID:28492532|PMID:31273557
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:12849	autistic disorder		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:13620	patent foramen ovale		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:19836010|PMID:22829427|PMID:25741868|PMID:28492532|PMID:31273557
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:1596	depressive disorder		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:1891	optic nerve disease		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:1909	melanoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:2030	anxiety disorder		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:2841	asthma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:3068	glioblastoma		ISO	RGD:1315988	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27270107
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:3070	high grade glioma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:3087	gingivitis		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:3144	cutis laxa		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:3144	cutis laxa		ISS	RGD:1315989	D	RGD:13592920	20180518	MouseDO		OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:3275	thymoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:28492532
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1315988	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:552	pneumonia		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:630	genetic disease		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9001733	Tinnitus		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9003126	Hallucinations		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9003133	Hypertelorism		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9003539	Hyperacusis		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:28492532
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28492532
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1315988	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27270107
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9005077	Joint Instability		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:25741868|PMID:28492532
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:19836010|PMID:22829427|PMID:25741868|PMID:28492532|PMID:31273557
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:19836010|PMID:22829427|PMID:25741868|PMID:28492532|PMID:31273557
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9007736	Vertigo		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9008023	Memory Disorders		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19836010|PMID:22829427|PMID:25741868|PMID:28492532|PMID:31273557
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9008811	Tachypnea		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9834	hyperopia		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1307033	Ltbp4	latent transforming growth factor beta binding protein 4	gene	DOID:9970	obesity		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1307034	Fry	FRY microtubule binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307034	Fry	FRY microtubule binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307034	Fry	FRY microtubule binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307034	Fry	FRY microtubule binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:1349911	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1307034	Fry	FRY microtubule binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	PMID:21937992|PMID:25741868
1307034	Fry	FRY microtubule binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307034	Fry	FRY microtubule binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307034	Fry	FRY microtubule binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307034	Fry	FRY microtubule binding protein	gene	DOID:1909	melanoma		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307034	Fry	FRY microtubule binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307034	Fry	FRY microtubule binding protein	gene	DOID:3070	high grade glioma		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307034	Fry	FRY microtubule binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307034	Fry	FRY microtubule binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307034	Fry	FRY microtubule binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1349911	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307034	Fry	FRY microtubule binding protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307034	Fry	FRY microtubule binding protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1349911	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	
1307034	Fry	FRY microtubule binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307034	Fry	FRY microtubule binding protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307034	Fry	FRY microtubule binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307034	Fry	FRY microtubule binding protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1349911	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307034	Fry	FRY microtubule binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307034	Fry	FRY microtubule binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307034	Fry	FRY microtubule binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307035	Cadm3	cell adhesion molecule 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307035	Cadm3	cell adhesion molecule 3	gene	DOID:0060058	lymphoma		ISO	RGD:1315991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307035	Cadm3	cell adhesion molecule 3	gene	DOID:10283	prostate cancer		ISO	RGD:1315991	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307035	Cadm3	cell adhesion molecule 3	gene	DOID:10283	prostate cancer		ISO	RGD:1315991	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307035	Cadm3	cell adhesion molecule 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307035	Cadm3	cell adhesion molecule 3	gene	DOID:630	genetic disease		ISO	RGD:1315991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307035	Cadm3	cell adhesion molecule 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307035	Cadm3	cell adhesion molecule 3	gene	DOID:9001481	Charcot-Marie-Tooth Disease Axonal Type 2FF		ISO	RGD:1315991	D	RGD:7240710	20210929	OMIM			
1307035	Cadm3	cell adhesion molecule 3	gene	DOID:9001481	Charcot-Marie-Tooth Disease Axonal Type 2FF		ISO	RGD:1315991	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2FF	PMID:25741868
1307035	Cadm3	cell adhesion molecule 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307037	Tmc5	transmembrane channel-like 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307037	Tmc5	transmembrane channel-like 5	gene	DOID:10534	stomach cancer		ISO	RGD:1315994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307037	Tmc5	transmembrane channel-like 5	gene	DOID:1115	sarcoma		ISO	RGD:1315994	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307037	Tmc5	transmembrane channel-like 5	gene	DOID:1324	lung cancer		ISO	RGD:1315994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307037	Tmc5	transmembrane channel-like 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307037	Tmc5	transmembrane channel-like 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307037	Tmc5	transmembrane channel-like 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307037	Tmc5	transmembrane channel-like 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307038	Dusp11	dual specificity phosphatase 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307038	Dusp11	dual specificity phosphatase 11	gene	DOID:10534	stomach cancer		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307038	Dusp11	dual specificity phosphatase 11	gene	DOID:1324	lung cancer		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307038	Dusp11	dual specificity phosphatase 11	gene	DOID:1909	melanoma		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307038	Dusp11	dual specificity phosphatase 11	gene	DOID:3275	thymoma		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307038	Dusp11	dual specificity phosphatase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307038	Dusp11	dual specificity phosphatase 11	gene	DOID:6039	uveal melanoma		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307038	Dusp11	dual specificity phosphatase 11	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307038	Dusp11	dual specificity phosphatase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307038	Dusp11	dual specificity phosphatase 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:0050741	alcohol dependence		ISO	RGD:1315998	D	RGD:405650603|PMID:27151647	20240429	RGD		associated with other drug dependencies; DNA:SNPs:CDS:intron (rs11870068)	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1315998	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: syndromic intellectual disability	PMID:25741868|PMID:28492532
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:28492532
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868|PMID:28492532
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies		ISO	RGD:1315998	D	RGD:7240710	20260805	OMIM			
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies		ISO	RGD:1315998	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: BPTF-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | ClinVar Annotator: match by term: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28942966|PMID:33522091
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies		ISS	RGD:1315999	D	RGD:13592920	20240229	MouseDO		OMIM:617755	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:10534	stomach cancer		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:1059	intellectual disability		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:28492532|PMID:28942966|PMID:33522091
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1315998	D	RGD:9586059|PMID:9792236	20140926	RGD		protein:increased expression:microglia:	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:10907	microcephaly		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315998	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121791
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:11830	myopia		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:12849	autistic disorder		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exocrine pancreatic insufficiency	PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:1686	glaucoma		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:178	vascular disease		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular disorder	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:1826	epilepsy		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:1909	melanoma		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:2841	asthma		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1315998	D	RGD:9586057|PMID:9225734	20140926	RGD		mRNA,protein:increased expression:spinal cord:	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:630	genetic disease		ISO	RGD:1315998	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27452334|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28942966|PMID:33522091
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:8632	Kaposi's sarcoma		ISO	RGD:1315998	D	RGD:11554173	20250204	CTD		CTD Direct Evidence: marker/mechanism	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:8632	Kaposi's sarcoma		ISO	RGD:1315998	D	RGD:7240710	20260805	OMIM			
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:8632	Kaposi's sarcoma		ISO	RGD:1315998	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kaposi's sarcoma	PMID:28492532
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9000053	Headache		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9001581	Constipation		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9002189	High Myopia		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9003133	Hypertelorism		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9003591	Telecanthus		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:28492532|PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315998	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9004866	Ataxia		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9005077	Joint Instability		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9005616	Micrognathism		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:28942966
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307039	Bptf	bromodomain PHD finger transcription factor	gene	DOID:9840	esotropia		ISO	RGD:1315998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:0050860	colorectal adenoma		ISO	RGD:1316000	D	RGD:9068941	20210924	RGD		protein:decreased expression:colorectum (human)	PMID:28423721|REF_RGD_ID:150429743
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1316000	D	RGD:150429750|PMID:28319306	20210923	RGD		mRNA:increased expression:tongue squamous epithelium (human)	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:0050933	ovarian serous carcinoma		ISO	RGD:1316000	D	RGD:2293332|PMID:16627982	20080527	RGD		ovarian serous carcinoma	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316000	D	RGD:2306057|PMID:15665277	20090319	RGD			
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1316000	D	RGD:150429822|PMID:20554746	20211001	RGD		DNA:SNP:promoter: -1304T>G (rs3826392) (human)	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336|PMID:9331070
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:1793	pancreatic cancer		ISO	RGD:1316000	D	RGD:5490966|PMID:18772397	20110921	RGD			
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:224	transient cerebral ischemia		IDA		D	RGD:7495830|PMID:9195981	20131216	RGD		protein:increased threonine phosphorylation:heart, nucleus	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:2615	papilloma		ISO	RGD:1316001	D	RGD:7495823|PMID:20610622	20131216	RGD			
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:2876	laryngeal squamous cell carcinoma	severity	ISO	RGD:1316000	D	RGD:150429781|PMID:19513509	20210928	RGD		associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:3008	invasive ductal carcinoma	disease_progression	ISO	RGD:1316000	D	RGD:2289400|PMID:15592684	20080410	RGD			
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1316000	D	RGD:5490968|PMID:20699612	20110921	RGD			
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:3717	gastric adenocarcinoma	severity	ISO	RGD:1316000	D	RGD:150429764|PMID:10854223	20210927	RGD		protein:increased expression:stomach (human)	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1316000	D	RGD:11521299|PMID:26165383	20211001	RGD		associated with Postoperative Complications;DNA:SNP:intron: (rs12452497)(human)	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1316001	D	RGD:150429821|PMID:12231543	20211001	RGD			
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1316001	D	RGD:150429783|PMID:21896780	20210928	RGD			
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316000	D	RGD:150429765|PMID:32850377	20210927	RGD		protein:decreased expression:liver (human)	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:769	neuroblastoma		ISO	RGD:1316000	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROBLASTOMA	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:8634	prostate carcinoma in situ	disease_progression	ISO	RGD:1316000	D	RGD:2293334|PMID:17577251	20080711	RGD			
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1316001	D	RGD:7495828|PMID:21454599	20131216	RGD			
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9000774	Brain Death		IDA		D	RGD:7495829|PMID:23157661	20131216	RGD			
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1316000	D	RGD:150429749|PMID:22165133	20210923	RGD		associated with oral squamous cell carcinoma;mRNA, protein:increased expression:lymph node (human)	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9001725	Retina Reperfusion Injury		IEP		D	RGD:7495824|PMID:19668425	20131216	RGD			
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316000	D	RGD:2293334|PMID:17577251	20080527	RGD			
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:1316000	D	RGD:2293333|PMID:11306453	20080527	RGD			
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:1316001	D	RGD:2293337|PMID:16322247	20080528	RGD		expression of mouse gene inhibits metastatic colonization of secondary sites by cancer cells in the AT6.1 model system	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1316001	D	RGD:2293338|PMID:16489030	20080528	RGD		expression of the mouse gene inhibits metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316000	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9004464	Skin Neoplasms	treatment	ISO	RGD:1316001	D	RGD:7495826|PMID:21378167	20131216	RGD			
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9007980	Sleep Deprivation		IEP		D	RGD:7495827|PMID:23859770	20131216	RGD		mRNA, protein:decreased expression:mandible condylar process	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9008939	Breast Neoplasms	susceptibility	ISO	RGD:1316000	D	RGD:7495825|PMID:19404734	20131216	RGD		DNA:SNP, haplotype	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1316000	D	RGD:150429744|PMID:19610067	20210922	RGD		DNA:SNPs:promoter: -1304G>G, -1304T>G (rs3826392) (human)	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1316000	D	RGD:9068941	20210924	RGD		protein:decreased expression:colorectum (human)	PMID:28423721|REF_RGD_ID:150429743
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9261	nasopharynx carcinoma	ameliorates	ISO	RGD:1316000	D	RGD:150429759|PMID:27373035	20210927	RGD		DNA:SNP:promoter: -1304T>G, -1304G>G (human)	
1307040	Map2k4	mitogen activated protein kinase kinase 4	gene	DOID:9261	nasopharynx carcinoma	ameliorates	ISO	RGD:1316000	D	RGD:150429763|PMID:21702039	20210927	RGD		associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human)	
1307041	Pcid2	PCI domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307041	Pcid2	PCI domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307041	Pcid2	PCI domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307041	Pcid2	PCI domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307041	Pcid2	PCI domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307041	Pcid2	PCI domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307041	Pcid2	PCI domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307041	Pcid2	PCI domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307041	Pcid2	PCI domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307041	Pcid2	PCI domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307041	Pcid2	PCI domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307041	Pcid2	PCI domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601857	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307041	Pcid2	PCI domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307041	Pcid2	PCI domain containing 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307041	Pcid2	PCI domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307041	Pcid2	PCI domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307043	Tssc4	tumor suppressing subtransferable candidate 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307044	Mocs3	molybdenum cofactor synthesis 3	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1316006	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	
1307044	Mocs3	molybdenum cofactor synthesis 3	gene	DOID:9009398	Molybdenum cofactor deficiency, type B2		ISO	RGD:1316006	D	RGD:7240710	20251105	OMIM			
1307044	Mocs3	molybdenum cofactor synthesis 3	gene	DOID:9009398	Molybdenum cofactor deficiency, type B2		ISO	RGD:1316006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MOLYBDENUM COFACTOR DEFICIENCY, TYPE B2	
1307045	Cmtm5	CKLF-like MARVEL transmembrane domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307045	Cmtm5	CKLF-like MARVEL transmembrane domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1316008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307045	Cmtm5	CKLF-like MARVEL transmembrane domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1316008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307047	Atxn7l2	ataxin 7-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307047	Atxn7l2	ataxin 7-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350736	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307047	Atxn7l2	ataxin 7-like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307047	Atxn7l2	ataxin 7-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307047	Atxn7l2	ataxin 7-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307047	Atxn7l2	ataxin 7-like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307047	Atxn7l2	ataxin 7-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307047	Atxn7l2	ataxin 7-like 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307047	Atxn7l2	ataxin 7-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307047	Atxn7l2	ataxin 7-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307048	Vil1	villin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307048	Vil1	villin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307048	Vil1	villin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307048	Vil1	villin 1	gene	DOID:13580	cholestasis		ISO	RGD:1316011	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
1307048	Vil1	villin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307048	Vil1	villin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307048	Vil1	villin 1	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1316011	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1307048	Vil1	villin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316011	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307048	Vil1	villin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307048	Vil1	villin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307048	Vil1	villin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307049	Helz	helicase with zinc finger	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307049	Helz	helicase with zinc finger	gene	DOID:0060040	pervasive developmental disorder		ISO	RGD:1316013	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Pervasive developmental disorder	PMID:25741868
1307049	Helz	helicase with zinc finger	gene	DOID:10534	stomach cancer		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307049	Helz	helicase with zinc finger	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307049	Helz	helicase with zinc finger	gene	DOID:1115	sarcoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307049	Helz	helicase with zinc finger	gene	DOID:1324	lung cancer		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307049	Helz	helicase with zinc finger	gene	DOID:1909	melanoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307049	Helz	helicase with zinc finger	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307049	Helz	helicase with zinc finger	gene	DOID:3070	high grade glioma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307049	Helz	helicase with zinc finger	gene	DOID:4362	cervical cancer		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307049	Helz	helicase with zinc finger	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307049	Helz	helicase with zinc finger	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307049	Helz	helicase with zinc finger	gene	DOID:5041	esophageal cancer		ISO	RGD:1316013	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307049	Helz	helicase with zinc finger	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307049	Helz	helicase with zinc finger	gene	DOID:6039	uveal melanoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307049	Helz	helicase with zinc finger	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307049	Helz	helicase with zinc finger	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307049	Helz	helicase with zinc finger	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1307050	Steap2	STEAP2 metalloreductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307050	Steap2	STEAP2 metalloreductase	gene	DOID:0060058	lymphoma		ISO	RGD:1316015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307050	Steap2	STEAP2 metalloreductase	gene	DOID:1324	lung cancer		ISO	RGD:1316015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307050	Steap2	STEAP2 metalloreductase	gene	DOID:332	amyotrophic lateral sclerosis	disease_progression	ISO	RGD:1316016	D	RGD:13524567|PMID:19656261	20180423	RGD		protein:increased expression:spinal chord	
1307050	Steap2	STEAP2 metalloreductase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307050	Steap2	STEAP2 metalloreductase	gene	DOID:4362	cervical cancer		ISO	RGD:1316015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307050	Steap2	STEAP2 metalloreductase	gene	DOID:5041	esophageal cancer		ISO	RGD:1316015	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307050	Steap2	STEAP2 metalloreductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307051	Acss3	acyl-CoA synthetase short-chain family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307051	Acss3	acyl-CoA synthetase short-chain family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307051	Acss3	acyl-CoA synthetase short-chain family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307051	Acss3	acyl-CoA synthetase short-chain family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307051	Acss3	acyl-CoA synthetase short-chain family member 3	gene	DOID:1909	melanoma		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307051	Acss3	acyl-CoA synthetase short-chain family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307051	Acss3	acyl-CoA synthetase short-chain family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603012	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307051	Acss3	acyl-CoA synthetase short-chain family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307051	Acss3	acyl-CoA synthetase short-chain family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307051	Acss3	acyl-CoA synthetase short-chain family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307054	Pus7	pseudouridine synthase 7	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307054	Pus7	pseudouridine synthase 7	gene	DOID:0070297	primary microcephaly		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:0081265	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature		ISO	RGD:1603643	D	RGD:7240710	20190315	OMIM			
1307054	Pus7	pseudouridine synthase 7	gene	DOID:0081265	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE | ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | ClinVar Annotator: match by term: PUS7-related condition	PMID:25741868|PMID:28492532|PMID:30526862|PMID:30778726|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:10175	optic papillitis		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Optic papillitis	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307054	Pus7	pseudouridine synthase 7	gene	DOID:1059	intellectual disability		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:1059	intellectual disability		ISO	RGD:1603643	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
1307054	Pus7	pseudouridine synthase 7	gene	DOID:10907	microcephaly		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:10908	hydrocephalus		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307054	Pus7	pseudouridine synthase 7	gene	DOID:1115	sarcoma		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307054	Pus7	pseudouridine synthase 7	gene	DOID:1205	allergic disease		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:12849	autistic disorder		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:12849	autistic disorder		ISO	RGD:1603643	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1307054	Pus7	pseudouridine synthase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307054	Pus7	pseudouridine synthase 7	gene	DOID:2355	anemia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:3650	lactic acidosis		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307054	Pus7	pseudouridine synthase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307054	Pus7	pseudouridine synthase 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307054	Pus7	pseudouridine synthase 7	gene	DOID:630	genetic disease		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307054	Pus7	pseudouridine synthase 7	gene	DOID:7319	axonal neuropathy		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sensory axonal neuropathy	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:8488	polyhydramnios		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9000343	Vision Disorders		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9003137	Photophobia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9004538	Hearing Loss		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9005616	Micrognathism		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9006617	Fatigue		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9007105	Hyperemesis Gravidarum		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hyperemesis gravidarum	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9007573	Flatfoot		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9007776	Hemianopsia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hemianopia	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9008214	Genu Valgum		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603643	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:35144859
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1603643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307054	Pus7	pseudouridine synthase 7	gene	DOID:9993	hypoglycemia		ISO	RGD:1603643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fasting hypoglycemia | ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:35144859
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:0110990	Joubert syndrome 21		ISO	RGD:1605630	D	RGD:7240710	20140911	OMIM			
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:0110990	Joubert syndrome 21		ISO	RGD:1605630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CSPP1-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 21 | ClinVar Annotator: match by term: Joubert syndrome 21	PMID:16199547|PMID:17576681|PMID:24033266|PMID:24360803|PMID:24360807|PMID:24360808|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29146704|PMID:29706646|PMID:32483926|PMID:35858853|PMID:9536098
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1605630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1605630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1605630	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1605630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:5723	optic atrophy		ISO	RGD:1605630	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:630	genetic disease		ISO	RGD:1605630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:24360807|PMID:24360808|PMID:25741868|PMID:26092869|PMID:27894351|PMID:28492532|PMID:29146704|PMID:9536098
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1605630	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1307055	Cspp1	centrosome and spindle pole associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307056	Fhl5	four and a half LIM domains 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307056	Fhl5	four and a half LIM domains 5	gene	DOID:6364	migraine		ISO	RGD:1316022	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23793025
1307057	C1qtnf6	C1q and TNF related 6	gene	DOID:3525	middle cerebral artery infarction	ameliorates	IEP		D	RGD:242905190|PMID:35322553	20230327	RGD			
1307057	C1qtnf6	C1q and TNF related 6	gene	DOID:5844	myocardial infarction		IEP		D	RGD:529435444|PMID:25962701	20241205	RGD		protein:decreased expression:heart	
1307057	C1qtnf6	C1q and TNF related 6	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1316024	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18978792
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:0080600	COVID-19		ISO	RGD:1344396	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:0110813	hereditary spastic paraplegia 62		ISO	RGD:1344396	D	RGD:7240710	20190315	OMIM			
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:0110813	hereditary spastic paraplegia 62		ISO	RGD:1344396	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 62 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 62, autosomal recessive	PMID:16199547|PMID:17576681|PMID:24482476|PMID:25741868|PMID:28492532|PMID:9536098
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:1115	sarcoma		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:1324	lung cancer		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:9000276	Juvenile Amyotrophic Lateral Sclerosis		ISO	RGD:1344396	D	RGD:8554872	20200728	ClinVar		ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis	PMID:25741868
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307058	Erlin1	ER lipid raft associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307059	C1qtnf12	C1q and TNF related 12	gene	DOID:10534	stomach cancer		ISO	RGD:1603827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307059	C1qtnf12	C1q and TNF related 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307059	C1qtnf12	C1q and TNF related 12	gene	DOID:4362	cervical cancer		ISO	RGD:1603827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307059	C1qtnf12	C1q and TNF related 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307059	C1qtnf12	C1q and TNF related 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:6892765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:6892765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:10534	stomach cancer		ISO	RGD:6892765	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:11054	urinary bladder cancer		ISO	RGD:6892765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:1115	sarcoma		ISO	RGD:6892765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:1324	lung cancer		ISO	RGD:6892765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:2394	ovarian cancer		ISO	RGD:6892765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:3275	thymoma		ISO	RGD:6892765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:4362	cervical cancer		ISO	RGD:6892765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:5041	esophageal cancer		ISO	RGD:6892765	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:6892765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:6892765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:6892765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:6892765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:6892765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307061	Arhgef28	Rho guanine nucleotide exchange factor 28	gene	DOID:9849	Meniere's disease		ISO	RGD:6892765	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	PMID:25741868
1307063	Cdc40	cell division cycle 40	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307063	Cdc40	cell division cycle 40	gene	DOID:0060264	pontocerebellar hypoplasia		ISO	RGD:1316032	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia	PMID:33220177
1307063	Cdc40	cell division cycle 40	gene	DOID:0112326	pontocerebellar hypoplasia type 15		ISO	RGD:1316032	D	RGD:7240710	20210505	OMIM			
1307063	Cdc40	cell division cycle 40	gene	DOID:0112326	pontocerebellar hypoplasia type 15		ISO	RGD:1316032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 15	PMID:25741868
1307063	Cdc40	cell division cycle 40	gene	DOID:10534	stomach cancer		ISO	RGD:1316032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307063	Cdc40	cell division cycle 40	gene	DOID:1115	sarcoma		ISO	RGD:1316032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307063	Cdc40	cell division cycle 40	gene	DOID:1324	lung cancer		ISO	RGD:1316032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307063	Cdc40	cell division cycle 40	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307063	Cdc40	cell division cycle 40	gene	DOID:4362	cervical cancer		ISO	RGD:1316032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307063	Cdc40	cell division cycle 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307063	Cdc40	cell division cycle 40	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307063	Cdc40	cell division cycle 40	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307064	Zc3h7b	zinc finger CCCH-type containing 7B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307064	Zc3h7b	zinc finger CCCH-type containing 7B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307064	Zc3h7b	zinc finger CCCH-type containing 7B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307064	Zc3h7b	zinc finger CCCH-type containing 7B	gene	DOID:1115	sarcoma		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307064	Zc3h7b	zinc finger CCCH-type containing 7B	gene	DOID:1324	lung cancer		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307064	Zc3h7b	zinc finger CCCH-type containing 7B	gene	DOID:4362	cervical cancer		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307064	Zc3h7b	zinc finger CCCH-type containing 7B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307064	Zc3h7b	zinc finger CCCH-type containing 7B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307064	Zc3h7b	zinc finger CCCH-type containing 7B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307065	Mrpl35	mitochondrial ribosomal protein L35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307065	Mrpl35	mitochondrial ribosomal protein L35	gene	DOID:10534	stomach cancer		ISO	RGD:1316034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307065	Mrpl35	mitochondrial ribosomal protein L35	gene	DOID:1324	lung cancer		ISO	RGD:1316034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307065	Mrpl35	mitochondrial ribosomal protein L35	gene	DOID:5041	esophageal cancer		ISO	RGD:1316034	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307065	Mrpl35	mitochondrial ribosomal protein L35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307065	Mrpl35	mitochondrial ribosomal protein L35	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307065	Mrpl35	mitochondrial ribosomal protein L35	gene	DOID:9256	colorectal cancer		ISO	RGD:1316034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307066	Tmem53	transmembrane protein 53	gene	DOID:0112340	craniotubular dysplasia Ikegawa type		ISO	RGD:1603008	D	RGD:7240710	20220309	OMIM			
1307066	Tmem53	transmembrane protein 53	gene	DOID:0112340	craniotubular dysplasia Ikegawa type		ISO	RGD:1603008	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE | ClinVar Annotator: match by term: Craniotubular dysplasia, Ikegawa type | ClinVar Annotator: match by term: TMEM53-related craniotubular dysplasia	PMID:25741868
1307066	Tmem53	transmembrane protein 53	gene	DOID:0112340	craniotubular dysplasia Ikegawa type		ISS	RGD:1553430	D	RGD:13592920	20230718	MouseDO		OMIM:619727	
1307066	Tmem53	transmembrane protein 53	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307067	R3hdm4	R3H domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307067	R3hdm4	R3H domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307067	R3hdm4	R3H domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307067	R3hdm4	R3H domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1316037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307067	R3hdm4	R3H domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1316037	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307067	R3hdm4	R3H domain containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307067	R3hdm4	R3H domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316037	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307067	R3hdm4	R3H domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307067	R3hdm4	R3H domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307068	Snta1	syntrophin, alpha 1	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1316039	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:26220970|PMID:28492532
1307068	Snta1	syntrophin, alpha 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1316039	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:18591664|PMID:22378279|PMID:25741868|PMID:27028743|PMID:28492532|PMID:31589614
1307068	Snta1	syntrophin, alpha 1	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:1316039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:22584458|PMID:23834499|PMID:23861362|PMID:24014171|PMID:25741868|PMID:28492532|PMID:28837624|PMID:32893267
1307068	Snta1	syntrophin, alpha 1	gene	DOID:0110645	long QT syndrome 2		ISO	RGD:1316039	D	RGD:8554872	20170912	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 2	
1307068	Snta1	syntrophin, alpha 1	gene	DOID:0110653	long QT syndrome 12		ISO	RGD:1316039	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307068	Snta1	syntrophin, alpha 1	gene	DOID:0110653	long QT syndrome 12		ISO	RGD:1316039	D	RGD:7240710	20150930	OMIM			
1307068	Snta1	syntrophin, alpha 1	gene	DOID:0110653	long QT syndrome 12		ISO	RGD:1316039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 12 | ClinVar Annotator: match by term: SNTA1-related condition	PMID:18591664|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:25395996|PMID:25650408|PMID:25741868|PMID:25864170|PMID:27028743|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29806494|PMID:30369311|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:32893267|PMID:34546463|PMID:38426305
1307068	Snta1	syntrophin, alpha 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316039	D	RGD:8554872	20191112	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23861362|PMID:25741868|PMID:28492532
1307068	Snta1	syntrophin, alpha 1	gene	DOID:13884	sick sinus syndrome		ISO	RGD:1316039	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Sick sinus syndrome	PMID:25741868|PMID:28492532
1307068	Snta1	syntrophin, alpha 1	gene	DOID:1824	status epilepticus		IEP		D	RGD:5148023|PMID:20886625	20120322	RGD		protein:decreased expression:piriform cortex	
1307068	Snta1	syntrophin, alpha 1	gene	DOID:1824	status epilepticus		ISO	RGD:1316039	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20886625
1307068	Snta1	syntrophin, alpha 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1316039	D	RGD:6771370|PMID:19684871	20120730	RGD		DNA:missense mutation:275A>G (human)	
1307068	Snta1	syntrophin, alpha 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1316039	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:16199547|PMID:17576681|PMID:18591664|PMID:19684871|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:24981977|PMID:25395996|PMID:25650408|PMID:25741868|PMID:25864170|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26220970|PMID:27028743|PMID:27231019|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29806494|PMID:30369311|PMID:30403391|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:9536098
1307068	Snta1	syntrophin, alpha 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1316039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:16199547|PMID:17576681|PMID:18591664|PMID:19684871|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:24981977|PMID:25395996|PMID:25640679|PMID:25650408|PMID:25741868|PMID:25864170|PMID:25956966|PMID:26132555|PMID:26159999|PMID:27028743|PMID:27231019|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29714131|PMID:29806494|PMID:30369311|PMID:30403391|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:32893267|PMID:34546463|PMID:38426305|PMID:9536098
1307068	Snta1	syntrophin, alpha 1	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1316039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast	PMID:20009079|PMID:23465283|PMID:23861362|PMID:25741868|PMID:28492532
1307068	Snta1	syntrophin, alpha 1	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1316039	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:23631430|PMID:28492532
1307068	Snta1	syntrophin, alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316039	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307068	Snta1	syntrophin, alpha 1	gene	DOID:9004416	Paroxysmal Ventricular Fibrillation		ISO	RGD:1316039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation	PMID:28492532
1307068	Snta1	syntrophin, alpha 1	gene	DOID:9004730	Romano-Ward Syndrome		ISO	RGD:1316039	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624
1307068	Snta1	syntrophin, alpha 1	gene	DOID:9004730	Romano-Ward Syndrome		ISO	RGD:1316039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Romano-Ward syndrome	PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:32893267
1307068	Snta1	syntrophin, alpha 1	gene	DOID:9007	sudden infant death syndrome	susceptibility	ISO	RGD:1316039	D	RGD:6771369|PMID:20009079	20120730	RGD		DNA:missense mutations:cds:multiple	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316041	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:1115	sarcoma		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:1324	lung cancer		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:1909	melanoma		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1316041	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:9002801	Recurrence		ISO	RGD:1316041	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1316041	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1316041	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316041	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35191604
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307069	Abca8	ATP binding cassette subfamily A member 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307070	Pex11g	peroxisomal biogenesis factor 11 gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307070	Pex11g	peroxisomal biogenesis factor 11 gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1316043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307070	Pex11g	peroxisomal biogenesis factor 11 gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307071	Kiz	kizuna centrosomal protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307071	Kiz	kizuna centrosomal protein	gene	DOID:0070751	mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	PMID:24680887|PMID:25741868|PMID:28492532|PMID:29057815
1307071	Kiz	kizuna centrosomal protein	gene	DOID:0110410	retinitis pigmentosa 69		ISO	RGD:1316045	D	RGD:7240710	20170405	OMIM			
1307071	Kiz	kizuna centrosomal protein	gene	DOID:0110410	retinitis pigmentosa 69		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KIZ-related condition | ClinVar Annotator: match by term: KIZ-related retinopathy | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 69 | ClinVar Annotator: match by term: Retinitis pigmentosa 69	PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671
1307071	Kiz	kizuna centrosomal protein	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1316045	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:24680887|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671
1307071	Kiz	kizuna centrosomal protein	gene	DOID:1115	sarcoma		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307071	Kiz	kizuna centrosomal protein	gene	DOID:1324	lung cancer		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307071	Kiz	kizuna centrosomal protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307071	Kiz	kizuna centrosomal protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307071	Kiz	kizuna centrosomal protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316045	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307071	Kiz	kizuna centrosomal protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307071	Kiz	kizuna centrosomal protein	gene	DOID:8501	fundus dystrophy		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31370859|PMID:32052671|PMID:32531858
1307071	Kiz	kizuna centrosomal protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307071	Kiz	kizuna centrosomal protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307072	Ndufb4	NADH:ubiquinone oxidoreductase subunit B4	gene	DOID:1324	lung cancer		ISO	RGD:1316046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307072	Ndufb4	NADH:ubiquinone oxidoreductase subunit B4	gene	DOID:4362	cervical cancer		ISO	RGD:1316046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307072	Ndufb4	NADH:ubiquinone oxidoreductase subunit B4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307072	Ndufb4	NADH:ubiquinone oxidoreductase subunit B4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307072	Ndufb4	NADH:ubiquinone oxidoreductase subunit B4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:0070260	congenital disorder of glycosylation type IIh		ISO	RGD:1316049	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:0070260	congenital disorder of glycosylation type IIh		ISO	RGD:1316049	D	RGD:7240710	20130221	OMIM			
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:0070260	congenital disorder of glycosylation type IIh		ISO	RGD:1316049	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COG8-CDG | ClinVar Annotator: match by term: COG8-related condition | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2H	PMID:17331980|PMID:21811164|PMID:25741868|PMID:28492532
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:1059	intellectual disability		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:1115	sarcoma		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:3070	high grade glioma		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:630	genetic disease		ISO	RGD:1316049	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1307074	Cog8	component of oligomeric golgi complex 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0060041	autism spectrum disorder		IMP		D	RGD:126790476|PMID:30126973	20210422	RGD			
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316053	D	RGD:13450908|PMID:25609168	20171108	RGD			
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352756	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20176116|PMID:21082657|PMID:21572417|PMID:21962519
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352756	D	RGD:8553826|PMID:18179895	20171108	RGD		DNA:polymorphisms:cds	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352756	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism Spectrum Disorder | ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545|PMID:28492532|PMID:30763456|PMID:35911904
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1316053	D	RGD:13592920	20230718	MouseDO			
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0060058	lymphoma		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0060243	stuttering		ISO	RGD:1352756	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21108403
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0060244	specific language impairment	susceptibility	ISO	RGD:1352756	D	RGD:13450918|PMID:18987363	20171108	RGD		DNA:SNPs: :(human)	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0060488	Pitt-Hopkins syndrome		ISO	RGD:1352756	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19896112
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0060488	Pitt-Hopkins syndrome		ISO	RGD:1352756	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome	PMID:18414213|PMID:25741868|PMID:26350204|PMID:26467025|PMID:27747449|PMID:28492532|PMID:31999386|PMID:37046053
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0060488	Pitt-Hopkins syndrome		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome	PMID:25741868
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0090130	cortical dysplasia-focal epilepsy syndrome		ISO	RGD:1352756	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0090130	cortical dysplasia-focal epilepsy syndrome		ISO	RGD:1352756	D	RGD:13450912|PMID:19896112	20171108	RGD		DNA:deletions	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0090130	cortical dysplasia-focal epilepsy syndrome		ISO	RGD:1352756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome | ClinVar Annotator: match by term: PITT-HOPKINS-LIKE SYNDROME 1 | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1	PMID:16199547|PMID:16571880|PMID:17576681|PMID:18179895|PMID:18414213|PMID:19302947|PMID:19896112|PMID:20502679|PMID:20711234|PMID:21827697|PMID:22031302|PMID:22872700|PMID:23074684|PMID:23714751|PMID:24083349|PMID:24807205|PMID:25045150|PMID:25167861|PMID:25621974|PMID:25640679|PMID:25648254|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26843181|PMID:27066544|PMID:27439707|PMID:27621318|PMID:27734276|PMID:27747449|PMID:28440294|PMID:28492532|PMID:28726809|PMID:29261713|PMID:29358611|PMID:29788201|PMID:30450007|PMID:31144778|PMID:31875159|PMID:31999386|PMID:33528079|PMID:33895390|PMID:34540591|PMID:34621295|PMID:34641913|PMID:34778490|PMID:34926809|PMID:36011376|PMID:37046053|PMID:37805811|PMID:38424048|PMID:38539105|PMID:6564677|PMID:9536098
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0090130	cortical dysplasia-focal epilepsy syndrome		ISS	RGD:1316053	D	RGD:13592920	20230718	MouseDO		OMIM:610042	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:0090130	cortical dysplasia-focal epilepsy syndrome	susceptibility	ISO	RGD:1352756	D	RGD:7240710	20260715	OMIM			
1307076	Cntnap2	contactin associated protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1352756	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:18179895|PMID:19896112|PMID:20711234|PMID:21827697|PMID:22872700|PMID:24807205|PMID:25045150|PMID:25167861|PMID:25741868|PMID:26467025|PMID:26843181|PMID:27439707|PMID:28492532|PMID:30450007|PMID:31999386|PMID:37046053
1307076	Cntnap2	contactin associated protein 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1352756	D	RGD:8554872	20181009	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25648254
1307076	Cntnap2	contactin associated protein 2	gene	DOID:11257	social phobia	susceptibility	ISO	RGD:1352756	D	RGD:13450911|PMID:21193173	20171108	RGD		DNA:SNP: :rs2710102(human)	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1352756	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18179894|PMID:18621663|PMID:20157312|PMID:21310003
1307076	Cntnap2	contactin associated protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1352756	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism, susceptibility to, 15 | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 4	PMID:16199547|PMID:18179893|PMID:18179894|PMID:18179895|PMID:18414213|PMID:19456320|PMID:19896112|PMID:20711234|PMID:21827697|PMID:22872700|PMID:24807205|PMID:25045150|PMID:25167861|PMID:25621974|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26843181|PMID:27439707|PMID:27734276|PMID:27747449|PMID:28492532|PMID:29358611|PMID:29788201|PMID:31875159|PMID:31999386|PMID:35911904|PMID:37046053
1307076	Cntnap2	contactin associated protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1352756	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 15 | ClinVar Annotator: match by term: NLGN3-related condition	PMID:16199547|PMID:17576681|PMID:18179893|PMID:18179894|PMID:18179895|PMID:18414213|PMID:19456320|PMID:19896112|PMID:20711234|PMID:21681106|PMID:21827697|PMID:22872700|PMID:24807205|PMID:25045150|PMID:25167861|PMID:25621974|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26843181|PMID:27439707|PMID:27734276|PMID:27747449|PMID:28492532|PMID:29358611|PMID:29788201|PMID:30208311|PMID:31875159|PMID:31999386|PMID:35911904|PMID:37046053|PMID:9536098
1307076	Cntnap2	contactin associated protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1352756	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: AUTISM, SUSCEPTIBILITY TO, 15 | ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 15 | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 2 | ClinVar Annotator: match by term: Autistic behavior	PMID:16199547|PMID:17576681|PMID:18179895|PMID:18414213|PMID:19896112|PMID:20711234|PMID:21681106|PMID:21827697|PMID:22872700|PMID:24807205|PMID:25045150|PMID:25167861|PMID:25621974|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26843181|PMID:27439707|PMID:27734276|PMID:27747449|PMID:28492532|PMID:29788201|PMID:30208311|PMID:30450007|PMID:31875159|PMID:31999386|PMID:34540591|PMID:37046053|PMID:9536098
1307076	Cntnap2	contactin associated protein 2	gene	DOID:12849	autistic disorder	no_association	ISO	RGD:1352756	D	RGD:13450907|PMID:23277129	20171108	RGD		DNA:SNPs: :rs2710102,rs7794745(human)	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:1352756	D	RGD:13450909|PMID:18179894	20171108	RGD		DNA:SNP: :rs7794745(human)	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:1352756	D	RGD:7240710	20260715	OMIM			
1307076	Cntnap2	contactin associated protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	PMID:18414213|PMID:25741868|PMID:26467025|PMID:26537360|PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1352756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:13365	reading disorder	susceptibility	ISO	RGD:1352756	D	RGD:13450919|PMID:21165691	20171108	RGD		DNA:SNPs: :	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1352756	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:25475535
1307076	Cntnap2	contactin associated protein 2	gene	DOID:1470	major depressive disorder	susceptibility	ISO	RGD:1352756	D	RGD:13450917|PMID:23123147	20171108	RGD		DNA:SNPs: :  rs2710102,rs2710117(human)	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:1826	epilepsy		IMP		D	RGD:12880397|PMID:28364455	20170505	RGD			
1307076	Cntnap2	contactin associated protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1352756	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20502679|PMID:21962519
1307076	Cntnap2	contactin associated protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:19896112|PMID:21827697|PMID:24807205|PMID:25045150|PMID:25741868|PMID:26843181|PMID:27439707|PMID:28492532|PMID:29358611
1307076	Cntnap2	contactin associated protein 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:1909	melanoma		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:2234	focal epilepsy		ISO	RGD:1352756	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1307076	Cntnap2	contactin associated protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:3329	benign epilepsy with centrotemporal spikes		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rolandic epilepsy	PMID:25741868|PMID:28492532|PMID:29358611|PMID:31144778
1307076	Cntnap2	contactin associated protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:4186	articulation disorder	susceptibility	ISO	RGD:1352756	D	RGD:11529633|PMID:25895914	20171109	RGD		DNA:SNPs,haplotype: :rs253897(human)	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:4189	mutism	susceptibility	ISO	RGD:1352756	D	RGD:13450911|PMID:21193173	20171108	RGD		DNA:SNP,haplotype: :rs2710102,rs6944808(human)	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:4667	kyphosis		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:19896112|PMID:21827697|PMID:25045150|PMID:25741868|PMID:26843181|PMID:27439707|PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:480	movement disease		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1352756	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esophageal cancer | ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:18414213|PMID:25741868|PMID:26467025|PMID:26537360|PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:540	strabismus		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:19896112|PMID:21827697|PMID:25045150|PMID:25741868|PMID:26843181|PMID:27439707|PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1352756	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1307076	Cntnap2	contactin associated protein 2	gene	DOID:5419	schizophrenia		ISO	RGD:1352756	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20157312
1307076	Cntnap2	contactin associated protein 2	gene	DOID:5419	schizophrenia		ISO	RGD:1352756	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:1352756	D	RGD:13450917|PMID:23123147	20171108	RGD		DNA:SNP: : rs17236239(human)	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:630	genetic disease		ISO	RGD:1352756	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18179895|PMID:18414213|PMID:19896112|PMID:20711234|PMID:21827697|PMID:22872700|PMID:23714751|PMID:24807205|PMID:25045150|PMID:25167861|PMID:25621974|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26843181|PMID:27439707|PMID:27621318|PMID:27747449|PMID:28440294|PMID:28492532|PMID:29358611|PMID:29788201|PMID:30450007|PMID:31875159|PMID:31999386|PMID:32381728|PMID:34540591|PMID:37046053|PMID:6564677
1307076	Cntnap2	contactin associated protein 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:8927	learning disability		ISO	RGD:1316053	D	RGD:13450914|PMID:26873041	20171108	RGD			
1307076	Cntnap2	contactin associated protein 2	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1352756	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21962519
1307076	Cntnap2	contactin associated protein 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307076	Cntnap2	contactin associated protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352756	D	RGD:13450910|PMID:28572274	20171108	RGD			
1307076	Cntnap2	contactin associated protein 2	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1352756	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20157312|PMID:21082657|PMID:21310003
1307076	Cntnap2	contactin associated protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:19896112|PMID:21827697|PMID:25045150|PMID:25741868|PMID:26843181|PMID:27439707|PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1352756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:19896112|PMID:21827697|PMID:25045150|PMID:25741868|PMID:26467025|PMID:26843181|PMID:27439707|PMID:28492532|PMID:31999386|PMID:37046053
1307076	Cntnap2	contactin associated protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19896112|PMID:21827697|PMID:24807205|PMID:25045150|PMID:25741868|PMID:26843181|PMID:27439707|PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:936	brain disease		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532
1307076	Cntnap2	contactin associated protein 2	gene	DOID:9840	esotropia		ISO	RGD:1352756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:19896112|PMID:21827697|PMID:25045150|PMID:25741868|PMID:26843181|PMID:27439707|PMID:28492532
1307077	Rybp	RING1 and YY1 binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307077	Rybp	RING1 and YY1 binding protein	gene	DOID:0050581	brachydactyly		ISO	RGD:1316054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:39891528
1307077	Rybp	RING1 and YY1 binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307077	Rybp	RING1 and YY1 binding protein	gene	DOID:1588	thrombocytopenia		ISO	RGD:1316054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:39891528
1307077	Rybp	RING1 and YY1 binding protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1316054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307077	Rybp	RING1 and YY1 binding protein	gene	DOID:9000336	Epispadias		ISO	RGD:1316054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epispadias	PMID:25741868|PMID:39891528
1307077	Rybp	RING1 and YY1 binding protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:39891528
1307077	Rybp	RING1 and YY1 binding protein	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1316054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868|PMID:39891528
1307077	Rybp	RING1 and YY1 binding protein	gene	DOID:9002444	Madelung Deformity		ISO	RGD:1316054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Madelung deformity	PMID:25741868|PMID:39891528
1307077	Rybp	RING1 and YY1 binding protein	gene	DOID:9003133	Hypertelorism		ISO	RGD:1316054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:39891528
1307077	Rybp	RING1 and YY1 binding protein	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1316054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868|PMID:39891528
1307077	Rybp	RING1 and YY1 binding protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307077	Rybp	RING1 and YY1 binding protein	gene	DOID:9005616	Micrognathism		ISO	RGD:1316054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:39891528
1307078	Tdrd5	tudor domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1316056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307078	Tdrd5	tudor domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1316056	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307078	Tdrd5	tudor domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1316056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307078	Tdrd5	tudor domain containing 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1316056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307078	Tdrd5	tudor domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1316056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307078	Tdrd5	tudor domain containing 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307078	Tdrd5	tudor domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1316056	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307078	Tdrd5	tudor domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307078	Tdrd5	tudor domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307078	Tdrd5	tudor domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307079	Spag8	sperm associated antigen 8	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1316057	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:22691581|PMID:25741868|PMID:28492532|PMID:32165824
1307079	Spag8	sperm associated antigen 8	gene	DOID:1909	melanoma		ISO	RGD:1316057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307079	Spag8	sperm associated antigen 8	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1307080	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307080	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:1115	sarcoma		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307080	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:3275	thymoma		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307080	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:4362	cervical cancer		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307080	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316058	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307080	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307080	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307080	Slc4a1ap	solute carrier family 4 member 1 adaptor protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307081	Tekt5	tektin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307081	Tekt5	tektin 5	gene	DOID:10534	stomach cancer		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307081	Tekt5	tektin 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307081	Tekt5	tektin 5	gene	DOID:3070	high grade glioma		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307081	Tekt5	tektin 5	gene	DOID:5419	schizophrenia		ISO	RGD:1605283	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1307081	Tekt5	tektin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307081	Tekt5	tektin 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307081	Tekt5	tektin 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307081	Tekt5	tektin 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1307081	Tekt5	tektin 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307083	Tp73	tumor protein p73	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1316062	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
1307083	Tp73	tumor protein p73	gene	DOID:0050861	colorectal adenocarcinoma	exacerbates	ISO	RGD:1316062	D	RGD:151347585|PMID:19956069	20220127	RGD		protein:increased expression:colon (human)	
1307083	Tp73	tumor protein p73	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307083	Tp73	tumor protein p73	gene	DOID:0060058	lymphoma		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307083	Tp73	tumor protein p73	gene	DOID:0060081	triple-negative breast cancer		ISO	RGD:1316062	D	RGD:2290583|PMID:17446929	20080320	RGD		mRNA:increased expression:breast	
1307083	Tp73	tumor protein p73	gene	DOID:0070760	primary ciliary dyskinesia 47 and lissencephaly		ISO	RGD:1316062	D	RGD:7240710	20210818	OMIM			
1307083	Tp73	tumor protein p73	gene	DOID:0070760	primary ciliary dyskinesia 47 and lissencephaly		ISO	RGD:1316062	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly	PMID:25741868|PMID:34077761
1307083	Tp73	tumor protein p73	gene	DOID:10283	prostate cancer		ISO	RGD:1316062	D	RGD:2298529|PMID:15492805	20080708	RGD		mRNA:alternative forms	
1307083	Tp73	tumor protein p73	gene	DOID:10286	prostate carcinoma	disease_progression	ISO	RGD:1316062	D	RGD:2290587|PMID:16254107	20080320	RGD		mRNA, protein:increased expression:prostate gland	
1307083	Tp73	tumor protein p73	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1316062	D	RGD:151347595|PMID:16190407	20220127	RGD		mRNA:decreased expression:stomach (human)	
1307083	Tp73	tumor protein p73	gene	DOID:10754	otitis media		ISS	RGD:1316063	D	RGD:13592920	20180518	MouseDO		OMIM:166760	
1307083	Tp73	tumor protein p73	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307083	Tp73	tumor protein p73	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1316062	D	RGD:2291836|PMID:10383132	20080331	RGD		mRNA:increased expression:urinary bladder	
1307083	Tp73	tumor protein p73	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:1316062	D	RGD:2298529|PMID:15492805	20080708	RGD		mRNA:alternative forms	
1307083	Tp73	tumor protein p73	gene	DOID:1324	lung cancer		ISO	RGD:1316062	D	RGD:2291830|PMID:11139314	20080331	RGD			
1307083	Tp73	tumor protein p73	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1316062	D	RGD:151347583|PMID:32063627	20220127	RGD		DNA:SNPs:exon 2:4G>A, 14C>T (human)	
1307083	Tp73	tumor protein p73	gene	DOID:1612	breast cancer		ISO	RGD:1316062	D	RGD:151347588|PMID:14732927	20220127	RGD		DNA:deletion:intron:IVS1-489_-417del (human)	
1307083	Tp73	tumor protein p73	gene	DOID:1612	breast cancer		ISO	RGD:1316062	D	RGD:2291830|PMID:11139314	20080331	RGD			
1307083	Tp73	tumor protein p73	gene	DOID:1612	breast cancer		ISO	RGD:1316062	D	RGD:2291831|PMID:11103943	20080331	RGD		DNA, mRNA:loss of heterozygosity, decreased expression:breast	
1307083	Tp73	tumor protein p73	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1316062	D	RGD:2290584|PMID:16950799	20080320	RGD		DNA:polymorphism	
1307083	Tp73	tumor protein p73	gene	DOID:1612	breast cancer	no_association	ISO	RGD:1316062	D	RGD:2291835|PMID:10634515	20080331	RGD		DNA:mutations	
1307083	Tp73	tumor protein p73	gene	DOID:2154	nephroblastoma		ISO	RGD:1316062	D	RGD:2291834|PMID:10760569	20080331	RGD		DNA:loss of heterozygosity:kidney	
1307083	Tp73	tumor protein p73	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		mRNA:increased expression:colon (human)	PMID:30420492|REF_RGD_ID:151347580
1307083	Tp73	tumor protein p73	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1316062	D	RGD:2290588|PMID:15492852	20080320	RGD		mRNA:increased expression:kidney	
1307083	Tp73	tumor protein p73	gene	DOID:2938	Epstein-Barr virus infectious disease		ISO	RGD:1316062	D	RGD:151347586|PMID:23829175	20220127	RGD		associated with stomach carcinoma;DNA:hypermethylation:promoter (human)	
1307083	Tp73	tumor protein p73	gene	DOID:3007	breast ductal carcinoma		ISO	RGD:1316062	D	RGD:2290492|PMID:17011986	20080320	RGD		mRNA:decreased expression:breast	
1307083	Tp73	tumor protein p73	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		mRNA:increased expression:lung (human)	PMID:30420492|REF_RGD_ID:151347580
1307083	Tp73	tumor protein p73	gene	DOID:3907	lung squamous cell carcinoma	treatment	ISO	RGD:1316062	D	RGD:151347584|PMID:27246533	20220127	RGD		DNA:SNP:: rs2273953(human)	
1307083	Tp73	tumor protein p73	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1316062	D	RGD:151347589|PMID:21965272	20220127	RGD		DNA:SNP:intron: (rs3765701) (human)	
1307083	Tp73	tumor protein p73	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1316062	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21245298
1307083	Tp73	tumor protein p73	gene	DOID:4362	cervical cancer	susceptibility	ISO	RGD:1316062	D	RGD:151347580|PMID:30420492	20220127	RGD		DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human)	
1307083	Tp73	tumor protein p73	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1316062	D	RGD:2291837|PMID:9796703	20080331	RGD			
1307083	Tp73	tumor protein p73	gene	DOID:5041	esophageal cancer		ISO	RGD:1316062	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307083	Tp73	tumor protein p73	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1316062	D	RGD:151347582|PMID:26168399	20220127	RGD		DNA:mutations:multiple: (human)	
1307083	Tp73	tumor protein p73	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307083	Tp73	tumor protein p73	gene	DOID:630	genetic disease		ISO	RGD:1316062	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307083	Tp73	tumor protein p73	gene	DOID:657	adenoma		ISO	RGD:1316062	D	RGD:151347590|PMID:29945573	20220127	RGD		DNA:hypermethylation:promoter: (human)	
1307083	Tp73	tumor protein p73	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316062	D	RGD:151347592|PMID:31429776	20220127	RGD		mRNA:increased expression:liver (human)	
1307083	Tp73	tumor protein p73	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316062	D	RGD:151347593|PMID:14760085	20220127	RGD		mRNA:increased expression:liver (human)	
1307083	Tp73	tumor protein p73	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316062	D	RGD:151347594|PMID:19664633	20220127	RGD		mRNA:increased expression:liver (human)	
1307083	Tp73	tumor protein p73	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307083	Tp73	tumor protein p73	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1316062	D	RGD:151347579|PMID:27359056	20220127	RGD		protein:decreased phosphorylation:liver (human)	
1307083	Tp73	tumor protein p73	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1316062	D	RGD:151347596|PMID:25371988	20220127	RGD		human cells in a mouse model	
1307083	Tp73	tumor protein p73	gene	DOID:769	neuroblastoma	no_association	ISO	RGD:1316062	D	RGD:1599583|PMID:9288759	20070208	RGD			
1307083	Tp73	tumor protein p73	gene	DOID:8923	skin melanoma		ISO	RGD:1316062	D	RGD:9068941	20220128	RGD		mRNA:increased expression:skin of body (human)	PMID:30420492|REF_RGD_ID:151347580
1307083	Tp73	tumor protein p73	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:1316062	D	RGD:2290589|PMID:11870517	20080320	RGD		mRNA:increased expression:uterine cervix	
1307083	Tp73	tumor protein p73	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1316062	D	RGD:2291833|PMID:11051237	20080331	RGD			
1307083	Tp73	tumor protein p73	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1316062	D	RGD:2291834|PMID:10760569	20080331	RGD		DNA:loss of heterozygosity:ovary	
1307083	Tp73	tumor protein p73	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1316062	D	RGD:2298530|PMID:12928725	20080708	RGD		protein:increased expression:ovary	
1307083	Tp73	tumor protein p73	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1316062	D	RGD:2290582|PMID:17504382	20080320	RGD		mRNA:increased expression:uterine cervix	
1307083	Tp73	tumor protein p73	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1316062	D	RGD:2290589|PMID:11870517	20080320	RGD		mRNA, protein:splice variant, increased expression:uterine cervix	
1307083	Tp73	tumor protein p73	gene	DOID:9003373	Uterine Cervical Neoplasms	disease_progression	ISO	RGD:1316062	D	RGD:2290586|PMID:16818688	20080320	RGD		protein:increased expression:uterine cervix	
1307083	Tp73	tumor protein p73	gene	DOID:9003566	Mesothelioma		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307083	Tp73	tumor protein p73	gene	DOID:9003814	Neurologic Manifestations		ISO	RGD:1316063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24190996
1307083	Tp73	tumor protein p73	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307083	Tp73	tumor protein p73	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316062	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental Disorder	
1307083	Tp73	tumor protein p73	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1316062	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:28212736
1307083	Tp73	tumor protein p73	gene	DOID:9005372	Inflammation		ISO	RGD:1316062	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:28212736
1307083	Tp73	tumor protein p73	gene	DOID:9005804	Vulvar Neoplasms		ISO	RGD:1316062	D	RGD:2290590|PMID:11720444	20080320	RGD		mRNA, protein:splice variant, increased expression:vulva	
1307083	Tp73	tumor protein p73	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24190996
1307083	Tp73	tumor protein p73	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1316062	D	RGD:2290585|PMID:16928264	20080320	RGD		DNA:hypermethylation	
1307083	Tp73	tumor protein p73	gene	DOID:9007715	Endometrial Neoplasms	susceptibility	ISO	RGD:1316062	D	RGD:2298528|PMID:15723718	20080708	RGD		DNA:polymorphism:exon	
1307083	Tp73	tumor protein p73	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316062	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:28212736
1307083	Tp73	tumor protein p73	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307083	Tp73	tumor protein p73	gene	DOID:9256	colorectal cancer		ISO	RGD:1316062	D	RGD:151347588|PMID:14732927	20220127	RGD		DNA:deletion:intron:IVS1-489_-417del (human)	
1307083	Tp73	tumor protein p73	gene	DOID:9256	colorectal cancer		ISO	RGD:1316062	D	RGD:151347590|PMID:29945573	20220127	RGD		DNA:hypermethylation:promoter: (human)	
1307083	Tp73	tumor protein p73	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1316062	D	RGD:151347587|PMID:31090204	20220127	RGD		DNA:SNP:intron:g.3636226T>C  (rs747828) (human)	
1307083	Tp73	tumor protein p73	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1316062	D	RGD:151347580|PMID:30420492	20220127	RGD		DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human)	
1307083	Tp73	tumor protein p73	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1316062	D	RGD:151347581|PMID:21672615	20220127	RGD		DNA:SNPs:exon 2:4G>A, 14C>T(rs2273953, rs1801173) (human)	
1307084	Ska2	spindle and kinetochore associated complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307084	Ska2	spindle and kinetochore associated complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307084	Ska2	spindle and kinetochore associated complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307084	Ska2	spindle and kinetochore associated complex subunit 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307084	Ska2	spindle and kinetochore associated complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307084	Ska2	spindle and kinetochore associated complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307085	Tm9sf1	transmembrane 9 superfamily member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307085	Tm9sf1	transmembrane 9 superfamily member 1	gene	DOID:1909	melanoma		ISO	RGD:1316066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307085	Tm9sf1	transmembrane 9 superfamily member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307085	Tm9sf1	transmembrane 9 superfamily member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307085	Tm9sf1	transmembrane 9 superfamily member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:0060058	lymphoma		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:29307819|PMID:30535450|PMID:35101336
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:1520	colon carcinoma		ISO	RGD:1316069	D	RGD:8554872	20180417	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:25058500|PMID:27165003
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:3275	thymoma		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1316069	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:6039	uveal melanoma		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:630	genetic disease		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307087	Rev3l	REV3 like, DNA directed polymerase zeta catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1316069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307089	Ntng2	netrin G2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307089	Ntng2	netrin G2	gene	DOID:1115	sarcoma		ISO	RGD:1316073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307089	Ntng2	netrin G2	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1316073	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type	PMID:28492532
1307089	Ntng2	netrin G2	gene	DOID:3312	bipolar disorder		ISO	RGD:1316073	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17507910
1307089	Ntng2	netrin G2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316073	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307089	Ntng2	netrin G2	gene	DOID:5419	schizophrenia		ISO	RGD:1316073	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17507910
1307089	Ntng2	netrin G2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307089	Ntng2	netrin G2	gene	DOID:630	genetic disease		ISO	RGD:1316073	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307089	Ntng2	netrin G2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307089	Ntng2	netrin G2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:31668703
1307089	Ntng2	netrin G2	gene	DOID:9006418	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA		ISO	RGD:1316073	D	RGD:7240710	20200115	OMIM			
1307089	Ntng2	netrin G2	gene	DOID:9006418	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA		ISO	RGD:1316073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA | ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	PMID:25741868
1307089	Ntng2	netrin G2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316073	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1307089	Ntng2	netrin G2	gene	DOID:9009239	Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay		ISO	RGD:1316073	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay	PMID:25741868
1307089	Ntng2	netrin G2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307090	Sbf1	SET binding factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307090	Sbf1	SET binding factor 1	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1316075	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4	PMID:28005197|PMID:28492532|PMID:28902413
1307090	Sbf1	SET binding factor 1	gene	DOID:0050581	brachydactyly		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:37091313
1307090	Sbf1	SET binding factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307090	Sbf1	SET binding factor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316075	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:30763456
1307090	Sbf1	SET binding factor 1	gene	DOID:0110194	Charcot-Marie-Tooth disease type 4B3		ISO	RGD:1316075	D	RGD:7240710	20140911	OMIM			
1307090	Sbf1	SET binding factor 1	gene	DOID:0110194	Charcot-Marie-Tooth disease type 4B3		ISO	RGD:1316075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B3 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4B3 | ClinVar Annotator: match by term: SBF1-related condition	PMID:16199547|PMID:17576681|PMID:23749797|PMID:24799518|PMID:25741868|PMID:26547235|PMID:28005197|PMID:28492532|PMID:28902413|PMID:31482689|PMID:33726816|PMID:37091313|PMID:38127101|PMID:41737274|PMID:9536098
1307090	Sbf1	SET binding factor 1	gene	DOID:0110194	Charcot-Marie-Tooth disease type 4B3		ISS	RGD:1316076	D	RGD:13592920	20230718	MouseDO		OMIM:615284	
1307090	Sbf1	SET binding factor 1	gene	DOID:0110209	Charcot-Marie-Tooth disease X-linked dominant 1		ISO	RGD:1316075	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: HMSN, X-LINKED	PMID:25741868|PMID:28492532|PMID:37091313
1307090	Sbf1	SET binding factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532|PMID:41737274
1307090	Sbf1	SET binding factor 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
1307090	Sbf1	SET binding factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1307090	Sbf1	SET binding factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307090	Sbf1	SET binding factor 1	gene	DOID:1909	melanoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307090	Sbf1	SET binding factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307090	Sbf1	SET binding factor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307090	Sbf1	SET binding factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307090	Sbf1	SET binding factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316075	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1307090	Sbf1	SET binding factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307090	Sbf1	SET binding factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307090	Sbf1	SET binding factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307090	Sbf1	SET binding factor 1	gene	DOID:870	neuropathy		ISO	RGD:1316075	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:28492532
1307090	Sbf1	SET binding factor 1	gene	DOID:9000495	Tremor		ISO	RGD:1316075	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Limb tremor | ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:28492532|PMID:37091313|PMID:41737274
1307090	Sbf1	SET binding factor 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1316075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:17576681|PMID:23749797|PMID:25741868|PMID:28492532|PMID:31482689|PMID:33726816|PMID:37091313|PMID:41737274|PMID:9536098
1307090	Sbf1	SET binding factor 1	gene	DOID:9003760	Myalgia		ISO	RGD:1316075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868|PMID:26547235|PMID:28492532|PMID:41737274
1307090	Sbf1	SET binding factor 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1316075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:41737274
1307090	Sbf1	SET binding factor 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1316075	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28492532|PMID:30787906|PMID:37091313|PMID:41737274
1307090	Sbf1	SET binding factor 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1316075	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperreflexia | ClinVar Annotator: match by term: Hyporeflexia	PMID:28492532|PMID:37091313|PMID:41737274
1307090	Sbf1	SET binding factor 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1316075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:17576681|PMID:25741868|PMID:26547235|PMID:28492532|PMID:30787906|PMID:37091313|PMID:41737274|PMID:9536098
1307090	Sbf1	SET binding factor 1	gene	DOID:9006743	Spasm		ISO	RGD:1316075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868|PMID:26547235|PMID:28492532|PMID:37091313|PMID:41737274
1307090	Sbf1	SET binding factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307090	Sbf1	SET binding factor 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1316075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:17576681|PMID:23749797|PMID:25741868|PMID:28492532|PMID:31482689|PMID:33726816|PMID:37091313|PMID:41737274|PMID:9536098
1307090	Sbf1	SET binding factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307090	Sbf1	SET binding factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307091	Tfb2m	transcription factor B2, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307091	Tfb2m	transcription factor B2, mitochondrial	gene	DOID:0060058	lymphoma		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307091	Tfb2m	transcription factor B2, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307091	Tfb2m	transcription factor B2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307091	Tfb2m	transcription factor B2, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307091	Tfb2m	transcription factor B2, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307091	Tfb2m	transcription factor B2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307091	Tfb2m	transcription factor B2, mitochondrial	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307091	Tfb2m	transcription factor B2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307091	Tfb2m	transcription factor B2, mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307093	Ppef2	protein phosphatase with EF-hand domain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316080	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307093	Ppef2	protein phosphatase with EF-hand domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307093	Ppef2	protein phosphatase with EF-hand domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307093	Ppef2	protein phosphatase with EF-hand domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:0060058	lymphoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:10534	stomach cancer		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:1115	sarcoma		ISO	RGD:1604045	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:11725	Cornelia de Lange syndrome		ISS	RGD:1316082	D	RGD:13592920	20180518	MouseDO		OMIM:122470 | OMIM:300590 | OMIM:300882 | OMIM:610759 | OMIM:614701	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:1909	melanoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:2394	ovarian cancer		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:3070	high grade glioma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:3275	thymoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:4362	cervical cancer		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:5041	esophageal cancer		ISO	RGD:1604045	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1604045	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1604045	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307094	Pds5a	PDS5 cohesin associated factor A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:0081206	autosomal recessive intellectual developmental disorder 41		ISO	RGD:1316083	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:10534	stomach cancer		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:1059	intellectual disability		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:10908	hydrocephalus		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:12849	autistic disorder		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:1754	mitral valve stenosis		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral stenosis	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:1826	epilepsy		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:3227	tracheal stenosis		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheal stenosis	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:479	angiokeratoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angiokeratoma	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:535	sleep disorder		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9003133	Hypertelorism		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9003816	Macrocephaly		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9005616	Micrognathism		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9007402	Gliosis		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:25741868|PMID:37552066
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307095	Rab5c	RAB5C, member RAS oncogene family	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1316083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:37552066
1307096	Nat9	N-acetyltransferase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1606805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307096	Nat9	N-acetyltransferase 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307096	Nat9	N-acetyltransferase 9	gene	DOID:1324	lung cancer		ISO	RGD:1606805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307096	Nat9	N-acetyltransferase 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307096	Nat9	N-acetyltransferase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307096	Nat9	N-acetyltransferase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1316086	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316086	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1316087	D	RGD:13592920	20190516	MouseDO			
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:0060058	lymphoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:0060867	macrocephaly-autism syndrome		ISO	RGD:1316086	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Macrocephaly/autism syndrome	PMID:32720330
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:1316086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 1	PMID:25741868
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:0070295	primary autosomal dominant microcephaly 18		ISO	RGD:1316086	D	RGD:7240710	20190315	OMIM			
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:0070295	primary autosomal dominant microcephaly 18		ISO	RGD:1316086	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant | ClinVar Annotator: match by term: WDFY3-related condition | ClinVar Annotator: match by term: WDFY3-related disorder	PMID:25741868|PMID:27008544|PMID:28492532|PMID:31327001|PMID:33994118
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:0070297	primary microcephaly		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:27008544
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1316086	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:10283	prostate cancer		ISO	RGD:1316086	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:10283	prostate cancer		ISO	RGD:1316086	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:1059	intellectual disability		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:10907	microcephaly		ISO	RGD:1316086	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:12849	autistic disorder		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:583	hemolytic anemia		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:25741868|PMID:27008544
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:630	genetic disease		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27824329|PMID:28263302|PMID:28492532|PMID:31327001
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1316086	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316086	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316086	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:26402605|PMID:27008544|PMID:27824329|PMID:31327001
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31327001
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307097	Wdfy3	WD repeat and FYVE domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307098	Olig2	oligodendrocyte transcription factor 2	gene	DOID:1824	status epilepticus		IEP		D	RGD:40902837|PMID:31415741	20201214	RGD		mRNA, protein:decreased expression:white matter of cerebral lobe	
1307098	Olig2	oligodendrocyte transcription factor 2	gene	DOID:630	genetic disease		ISO	RGD:1316088	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11337472|PMID:27479843
1307098	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	IMP		D	RGD:40902844|PMID:22173726	20201214	RGD			
1307098	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1316089	D	RGD:40902836|PMID:28452182	20201214	RGD			
1307098	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1316088	D	RGD:40902824|PMID:27340107	20201211	RGD		associated with breast cancer	
1307098	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	IEP		D	RGD:40902863|PMID:29682587	20201215	RGD			
1307098	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:1316089	D	RGD:40902822|PMID:24941845	20201211	RGD			
1307098	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307098	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9009105	HIV Encephalitis		ISO	RGD:1316088	D	RGD:40902823|PMID:15579294	20201211	RGD			
1307098	Olig2	oligodendrocyte transcription factor 2	gene	DOID:9790	toxocariasis		ISO	RGD:1316089	D	RGD:40902825|PMID:25773181	20201211	RGD			
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:0110440	dilated cardiomyopathy 1J		ISO	RGD:1316090	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:0110440	dilated cardiomyopathy 1J		ISO	RGD:1316090	D	RGD:7240710	20130425	OMIM			
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:0110440	dilated cardiomyopathy 1J		ISO	RGD:1316090	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Dilated cardiomyopathy 1J | ClinVar Annotator: match by term: EYA4-related condition	PMID:11159937|PMID:16199547|PMID:17576681|PMID:23861362|PMID:23990876|PMID:24033266|PMID:25681523|PMID:25741868|PMID:25781927|PMID:25961296|PMID:25963406|PMID:26084686|PMID:26969326|PMID:27662471|PMID:28492532|PMID:28767663|PMID:28831623|PMID:30123251|PMID:30165862|PMID:30245029|PMID:30311386|PMID:30368385|PMID:32107406|PMID:32277154|PMID:33745059|PMID:34426522|PMID:34956325|PMID:38808331|PMID:39271758|PMID:9536098
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:0110542	autosomal dominant nonsyndromic deafness 10		ISO	RGD:1316090	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:0110542	autosomal dominant nonsyndromic deafness 10		ISO	RGD:1316090	D	RGD:7240710	20130221	OMIM			
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:0110542	autosomal dominant nonsyndromic deafness 10		ISO	RGD:1316090	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 10 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 10	PMID:17576681|PMID:23861362|PMID:23990876|PMID:24033266|PMID:25681523|PMID:25741868|PMID:25781927|PMID:28492532|PMID:30165862|PMID:30192042|PMID:30245029|PMID:30311386|PMID:33301229|PMID:35802133|PMID:36633841|PMID:38808331|PMID:9536098
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1316090	D	RGD:1598455|PMID:15735644	20061129	RGD		DNA:deletion:introns, exon (human)	
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:10754	otitis media		ISS	RGD:1316091	D	RGD:13592920	20180518	MouseDO		OMIM:166760	
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:26969326|PMID:28492532|PMID:34426522
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316090	D	RGD:1598455|PMID:15735644	20061129	RGD		DNA:deletion:introns, exon (human)	
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316090	D	RGD:8554872	20160607	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10769282|PMID:15735644|PMID:17567890|PMID:24033266
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:1324	lung cancer		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:6000	congestive heart failure		ISO	RGD:1316090	D	RGD:1598455|PMID:15735644	20061129	RGD		DNA:deletion:introns, exon (human)	
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1316090	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1316090	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:25741868|PMID:28492532
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1316090	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307099	Eya4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:0060058	lymphoma		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1344341	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:29290337
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1344341	D	RGD:8554872	20191210	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:25741868|PMID:31680123
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:0111555	Alkuraya-Kucinskas syndrome		ISO	RGD:1344341	D	RGD:7240710	20190315	OMIM			
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:0111555	Alkuraya-Kucinskas syndrome		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ALKURAYA-KUCINSKAS SYNDROME | ClinVar Annotator: match by term: Alkuraya-Kucinskas syndrome | ClinVar Annotator: match by term: BLTP1-related condition	PMID:25558065|PMID:25741868|PMID:28492532|PMID:29290337|PMID:31785789
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:11836	clubfoot		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:14766	renal agenesis		ISO	RGD:1344341	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:25741868|PMID:29290337
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:1909	melanoma		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:2355	anemia		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:3275	thymoma		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344341	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:630	genetic disease		ISO	RGD:1344341	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:9004507	Hirsutism		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307100	Bltp1	bridge-like lipid transfer protein family member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1344341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307101	Lmo2	LIM domain only 2	gene	DOID:0080600	COVID-19		ISO	RGD:1316093	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307101	Lmo2	LIM domain only 2	gene	DOID:1115	sarcoma		ISO	RGD:1316093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307101	Lmo2	LIM domain only 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316093	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307101	Lmo2	LIM domain only 2	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1316093	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:19246562|PMID:24394663
1307101	Lmo2	LIM domain only 2	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1316093	D	RGD:11554173	20220607	CTD		CTD Direct Evidence: marker/mechanism	PMID:2034676
1307101	Lmo2	LIM domain only 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316093	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307101	Lmo2	LIM domain only 2	gene	DOID:9952	acute lymphoblastic leukemia		ISS	RGD:1316094	D	RGD:13592920	20240425	MouseDO		OMIM:247640 | OMIM:613065	
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:0110411	retinitis pigmentosa 60		ISO	RGD:1316097	D	RGD:7240710	20140911	OMIM			
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:0110411	retinitis pigmentosa 60		ISO	RGD:1316097	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: PRPF6-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 60 | ClinVar Annotator: match by term: Retinitis pigmentosa 60	PMID:21549338|PMID:25741868|PMID:28492532
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1316097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1316097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:28492532|PMID:31456290
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:1115	sarcoma		ISO	RGD:1316097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:1324	lung cancer		ISO	RGD:1316097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1316097	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:1909	melanoma		ISO	RGD:1316097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:3275	thymoma		ISO	RGD:1316097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316097	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:8501	fundus dystrophy		ISO	RGD:1316097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:25356976|PMID:25741868|PMID:28492532|PMID:9536098
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307103	Prpf6	pre-mRNA processing factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307105	Klhdc3	kelch domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307105	Klhdc3	kelch domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307105	Klhdc3	kelch domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1316101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307105	Klhdc3	kelch domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1316101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307105	Klhdc3	kelch domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1316101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307105	Klhdc3	kelch domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307105	Klhdc3	kelch domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307105	Klhdc3	kelch domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307105	Klhdc3	kelch domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:10534	stomach cancer		ISO	RGD:1316102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:1115	sarcoma		ISO	RGD:1316102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:1324	lung cancer		ISO	RGD:1316102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:13922	eosinophilic esophagitis		ISO	RGD:1316102	D	RGD:11100048|PMID:25407941	20190730	RGD		DNA:SNPs:intron: (rs3815700, rs10410895) (human)	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:3275	thymoma		ISO	RGD:1316102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:4362	cervical cancer		ISO	RGD:1316102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1316102	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307106	Ankrd27	ankyrin repeat domain 27	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307107	Pigz	phosphatidylinositol glycan anchor biosynthesis, class Z	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307107	Pigz	phosphatidylinositol glycan anchor biosynthesis, class Z	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307108	Pwwp2b	PWWP domain containing 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307108	Pwwp2b	PWWP domain containing 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307108	Pwwp2b	PWWP domain containing 2B	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1316105	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1307108	Pwwp2b	PWWP domain containing 2B	gene	DOID:1324	lung cancer		ISO	RGD:1316105	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307108	Pwwp2b	PWWP domain containing 2B	gene	DOID:3070	high grade glioma		ISO	RGD:1316105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307108	Pwwp2b	PWWP domain containing 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1316105	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307108	Pwwp2b	PWWP domain containing 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307108	Pwwp2b	PWWP domain containing 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316107	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1316107	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14729820
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1316107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:17576681|PMID:20818383|PMID:20819849|PMID:24215330|PMID:24642831|PMID:25741868|PMID:27502960|PMID:27604308|PMID:28031252|PMID:28492532|PMID:9536098
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:0112066	nuclear type mitochondrial complex I deficiency 6		ISO	RGD:1316107	D	RGD:7240710	20190315	OMIM			
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:0112066	nuclear type mitochondrial complex I deficiency 6		ISO	RGD:1316107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 6	PMID:11220739|PMID:17576681|PMID:20818383|PMID:20819849|PMID:25741868|PMID:28031252|PMID:28492532|PMID:29272804|PMID:29353736|PMID:30634555|PMID:31180159|PMID:31411514|PMID:32180488|PMID:36462614|PMID:9536098
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1316107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:17576681|PMID:25741868|PMID:28031252|PMID:28492532|PMID:9536098
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316107	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:11984	hypertrophic cardiomyopathy	susceptibility	ISO	RGD:1316107	D	RGD:1600573|PMID:11220739	20081215	RGD		associated with Mitochondrial Encephalomyopathies;DNA:missense mutations: :p.R228Q, p.P229Q, p.S413P (human)	
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:1324	lung cancer		ISO	RGD:1316107	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:2377	multiple sclerosis		ISO	RGD:1316107	D	RGD:6482255|PMID:18682780	20120420	RGD			
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:3070	high grade glioma		ISO	RGD:1316107	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:20818383|PMID:28492532|PMID:31411514
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:3275	thymoma		ISO	RGD:1316107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:3652	Leigh disease		ISO	RGD:1316107	D	RGD:6482269|PMID:20819849	20120423	RGD		DNA:missense mutation:cds:p.M292T (human)	
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316107	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:5723	optic atrophy		ISO	RGD:1316107	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316107	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:630	genetic disease		ISO	RGD:1316107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29272804|PMID:29353736|PMID:31180159|PMID:32180488
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1316107	D	RGD:1600573|PMID:11220739	20070315	RGD		mitochondrial complex I deficiency, OMIM:252010, DNA:point mutation:exon:R228Q	
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:1316107	D	RGD:8554872	20180508	ClinVar		ClinVar Annotator: match by term: Leber optic atrophy	PMID:25741868
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:1316107	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14729820
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:9000200	Leber Hereditary Optic Neuropathy, Autosomal Recessive  2		ISO	RGD:1316107	D	RGD:7240710	20231115	OMIM			
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:9000200	Leber Hereditary Optic Neuropathy, Autosomal Recessive  2		ISO	RGD:1316107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2 | ClinVar Annotator: match by term: NDUFS2-related condition	PMID:20818383|PMID:25741868|PMID:28031252|PMID:28050010|PMID:28492532
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:6484699|PMID:20876714	20120702	RGD		protein:decreased expression:dorsal root ganglia (rat)	
1307109	Ndufs2	NADH:ubiquinone oxidoreductase core subunit S2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307110	Ftsj3	FtsJ RNA 2'-O-methyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307110	Ftsj3	FtsJ RNA 2'-O-methyltransferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307110	Ftsj3	FtsJ RNA 2'-O-methyltransferase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307110	Ftsj3	FtsJ RNA 2'-O-methyltransferase 3	gene	DOID:1324	lung cancer		ISO	RGD:1316109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307110	Ftsj3	FtsJ RNA 2'-O-methyltransferase 3	gene	DOID:1909	melanoma		ISO	RGD:1316109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307110	Ftsj3	FtsJ RNA 2'-O-methyltransferase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307110	Ftsj3	FtsJ RNA 2'-O-methyltransferase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307110	Ftsj3	FtsJ RNA 2'-O-methyltransferase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307110	Ftsj3	FtsJ RNA 2'-O-methyltransferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316109	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307110	Ftsj3	FtsJ RNA 2'-O-methyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307110	Ftsj3	FtsJ RNA 2'-O-methyltransferase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307110	Ftsj3	FtsJ RNA 2'-O-methyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307110	Ftsj3	FtsJ RNA 2'-O-methyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0050453	lissencephaly		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Pachygyria	PMID:19028728|PMID:22989186|PMID:23611254|PMID:25741868|PMID:28492532
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0060058	lymphoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0070280	primary autosomal recessive microcephaly 5		ISO	RGD:1316111	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0070280	primary autosomal recessive microcephaly 5		ISO	RGD:1316111	D	RGD:13439741|PMID:19808985	20171016	RGD		DNA:mutations:multiple	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0070280	primary autosomal recessive microcephaly 5		ISO	RGD:1316111	D	RGD:7240710	20141015	OMIM			
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0070280	primary autosomal recessive microcephaly 5		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ASPM-related condition | ClinVar Annotator: match by term: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 5	PMID:11067780|PMID:12355089|PMID:14574646|PMID:15355437|PMID:16199547|PMID:16673149|PMID:17576681|PMID:17849285|PMID:18414213|PMID:18452193|PMID:19028728|PMID:19332161|PMID:19353628|PMID:19770472|PMID:19808985|PMID:20301772|PMID:20679666|PMID:20978018|PMID:22823409|PMID:22989186|PMID:23611254|PMID:25741868|PMID:25786579|PMID:26467025|PMID:26539891|PMID:26548919|PMID:26663670|PMID:26691732|PMID:26846091|PMID:27250695|PMID:28004384|PMID:28252636|PMID:28492532|PMID:28554332|PMID:29243349|PMID:29644084|PMID:29706646|PMID:30842647|PMID:31696992|PMID:31853109|PMID:31934343|PMID:31980526|PMID:32677750|PMID:33255631|PMID:33914258|PMID:34402213|PMID:36553628|PMID:9536098
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0070280	primary autosomal recessive microcephaly 5	susceptibility	ISO	RGD:1316111	D	RGD:1599300|PMID:16141009	20070129	RGD			
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0070280	primary autosomal recessive microcephaly 5	treatment	ISO	RGD:1316111	D	RGD:9068941	20241114	RGD			PMID:20823249|REF_RGD_ID:13439744
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1316111	D	RGD:13442485|PMID:19770472	20171103	RGD		DNA:mutations: :	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1316111	D	RGD:13442486|PMID:18452193	20171103	RGD		DNA:insertion:cds:c.4195_4196insA (p.T1399NfsX20)(human)	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1316111	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive primary microcephaly | ClinVar Annotator: match by term: Primary Autosomal Recessive Microcephaly | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly	PMID:16199547|PMID:18414213|PMID:19028728|PMID:20301772|PMID:20679666|PMID:22823409|PMID:22989186|PMID:23611254|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29243349|PMID:30842647|PMID:31980526
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0070297	primary microcephaly		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0070545	developmental and epileptic encephalopathy 116		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 116	PMID:19028728|PMID:23611254|PMID:25741868|PMID:28492532
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1316111	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0080600	COVID-19		ISO	RGD:1316111	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1316111	D	RGD:8554872	20191210	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:25741868|PMID:31680123
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:10534	stomach cancer		ISO	RGD:1316111	D	RGD:13439749|PMID:26178168	20171017	RGD		mRNA,protein:increased expression:stomach:	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:10534	stomach cancer		ISO	RGD:1316111	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:20301772|PMID:25741868|PMID:28492532
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:10534	stomach cancer		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:1059	intellectual disability		ISO	RGD:1316111	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability	PMID:12355089|PMID:18414213|PMID:19770472|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167849
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:1059	intellectual disability		ISO	RGD:1316111	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:12355089|PMID:14574646|PMID:18414213|PMID:19028728|PMID:19770472|PMID:20301772|PMID:22989186|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31934343|PMID:32404165|PMID:32677750
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:1059	intellectual disability		ISO	RGD:1316111	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:12355089|PMID:18414213|PMID:19028728|PMID:19770472|PMID:20301772|PMID:22989186|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31934343
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:1059	intellectual disability		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:12355089|PMID:18414213|PMID:19028728|PMID:19770472|PMID:20301772|PMID:22989186|PMID:23611254|PMID:25741868|PMID:28492532|PMID:31934343
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:10907	microcephaly		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly	PMID:12355089|PMID:18414213|PMID:19028728|PMID:19770472|PMID:20301772|PMID:20679666|PMID:22823409|PMID:22989186|PMID:23611254|PMID:25741868|PMID:28492532|PMID:30842647|PMID:32677750
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:10907	microcephaly		ISO	RGD:1619289	D	RGD:13439744|PMID:20823249	20171016	RGD			
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:10907	microcephaly		ISS	RGD:1619289	D	RGD:13592920	20180518	MouseDO		OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:10907	microcephaly	treatment	ISO	RGD:1316111	D	RGD:13439744|PMID:20823249	20171016	RGD			
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:1115	sarcoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1316111	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:1324	lung cancer		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:1909	melanoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:1969	cerebral palsy		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:1316111	D	RGD:13204746|PMID:24830737	20170718	RGD		protein:altered expression:ovary, cytoplasm	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:2234	focal epilepsy		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:19028728|PMID:22989186|PMID:23611254|PMID:25741868|PMID:28492532
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:2394	ovarian cancer		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:19028728|PMID:22989186|PMID:23611254|PMID:25741868|PMID:28492532
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:3068	glioblastoma		ISO	RGD:1316111	D	RGD:13439742|PMID:18636190	20171016	RGD		mRNA:increased expression:brain:	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:1316111	D	RGD:13442488|PMID:20142996	20171103	RGD		mRNA:increased expression:brain:	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:4667	kyphosis		ISO	RGD:1316111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:5041	esophageal cancer		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:540	strabismus		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:630	genetic disease		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:19028728|PMID:20301772|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32677750
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316111	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1316111	D	RGD:13439743|PMID:18676753	20171016	RGD			
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:19028728|PMID:23611254|PMID:28492532
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9001510	Funnel Chest		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9002079	Paresis		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:19028728|PMID:23611254|PMID:25741868|PMID:28492532
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9002189	High Myopia		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	PMID:14574646|PMID:20301772
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9003133	Hypertelorism		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1316111	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1316111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:19028728|PMID:23611254|PMID:25741868|PMID:28492532
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9005501	Abnormal Cortical Gyration		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal cortical gyration	PMID:19028728|PMID:23611254|PMID:25741868|PMID:28492532
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:19028728|PMID:23611254|PMID:25741868|PMID:28492532
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9007097	Microcephaly with Simplified Gyral Pattern		ISO	RGD:1316111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Simplified gyral pattern	PMID:25741868
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9007661	Dwarfism		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:19028728|PMID:23611254|PMID:28492532
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:18414213|PMID:28492532
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307111	Aspm	assembly factor for spindle microtubules	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:19028728|PMID:22989186|PMID:23611254|PMID:25741868|PMID:28492532
1307112	Fignl1	fidgetin-like 1	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1316113	D	RGD:401976474|PMID:16740595	20240227	RGD		DNA:SNP,haplotype:: (rs10230343) (human)	
1307112	Fignl1	fidgetin-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1316113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307112	Fignl1	fidgetin-like 1	gene	DOID:1909	melanoma		ISO	RGD:1316113	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307112	Fignl1	fidgetin-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307112	Fignl1	fidgetin-like 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1316113	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:28321044
1307112	Fignl1	fidgetin-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307113	Zfand3	zinc finger AN1-type containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307113	Zfand3	zinc finger AN1-type containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307113	Zfand3	zinc finger AN1-type containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307113	Zfand3	zinc finger AN1-type containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316115	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307113	Zfand3	zinc finger AN1-type containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307113	Zfand3	zinc finger AN1-type containing 3	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1316115	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1307113	Zfand3	zinc finger AN1-type containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307113	Zfand3	zinc finger AN1-type containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307113	Zfand3	zinc finger AN1-type containing 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1316115	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22158537
1307114	Ndufb9	NADH:ubiquinone oxidoreductase subunit B9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307114	Ndufb9	NADH:ubiquinone oxidoreductase subunit B9	gene	DOID:0112079	nuclear type mitochondrial complex I deficiency 24		ISO	RGD:1316117	D	RGD:7240710	20190315	OMIM			
1307114	Ndufb9	NADH:ubiquinone oxidoreductase subunit B9	gene	DOID:0112079	nuclear type mitochondrial complex I deficiency 24		ISO	RGD:1316117	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 24 | ClinVar Annotator: match by term: NDUFB9-related condition	PMID:22200994|PMID:25741868|PMID:28492532|PMID:38129218
1307114	Ndufb9	NADH:ubiquinone oxidoreductase subunit B9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307114	Ndufb9	NADH:ubiquinone oxidoreductase subunit B9	gene	DOID:9004657	Weight Gain		ISO	RGD:1316117	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1307114	Ndufb9	NADH:ubiquinone oxidoreductase subunit B9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307115	Cenpe	centromere protein E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307115	Cenpe	centromere protein E	gene	DOID:0070283	primary autosomal recessive microcephaly 13		ISO	RGD:1316119	D	RGD:7240710	20170405	OMIM			
1307115	Cenpe	centromere protein E	gene	DOID:0070283	primary autosomal recessive microcephaly 13		ISO	RGD:1316119	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: CENPE-related condition | ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessive	PMID:24748105|PMID:25741868|PMID:28492532
1307115	Cenpe	centromere protein E	gene	DOID:10534	stomach cancer		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307115	Cenpe	centromere protein E	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307115	Cenpe	centromere protein E	gene	DOID:1115	sarcoma		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307115	Cenpe	centromere protein E	gene	DOID:12849	autistic disorder		ISO	RGD:1316119	D	RGD:8554872	20181206	ClinVar		ClinVar Annotator: match by term: Autism	
1307115	Cenpe	centromere protein E	gene	DOID:1324	lung cancer		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307115	Cenpe	centromere protein E	gene	DOID:1909	melanoma		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307115	Cenpe	centromere protein E	gene	DOID:3275	thymoma		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307115	Cenpe	centromere protein E	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307115	Cenpe	centromere protein E	gene	DOID:4362	cervical cancer		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307115	Cenpe	centromere protein E	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307115	Cenpe	centromere protein E	gene	DOID:5041	esophageal cancer		ISO	RGD:1316119	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307115	Cenpe	centromere protein E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307115	Cenpe	centromere protein E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316119	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307115	Cenpe	centromere protein E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307115	Cenpe	centromere protein E	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307115	Cenpe	centromere protein E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307115	Cenpe	centromere protein E	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307115	Cenpe	centromere protein E	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307119	Notum	NOTUM, palmitoleoyl-protein carboxylesterase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606450	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1307119	Notum	NOTUM, palmitoleoyl-protein carboxylesterase	gene	DOID:3275	thymoma		ISO	RGD:1606450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307119	Notum	NOTUM, palmitoleoyl-protein carboxylesterase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307119	Notum	NOTUM, palmitoleoyl-protein carboxylesterase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307120	Snrnp70	small nuclear ribonucleoprotein U1 subunit 70	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307120	Snrnp70	small nuclear ribonucleoprotein U1 subunit 70	gene	DOID:10534	stomach cancer		ISO	RGD:1316126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307120	Snrnp70	small nuclear ribonucleoprotein U1 subunit 70	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1316126	D	RGD:10448959|PMID:24023061	20151209	RGD		protein:increased expression:cerebral cortex (human)	
1307120	Snrnp70	small nuclear ribonucleoprotein U1 subunit 70	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307120	Snrnp70	small nuclear ribonucleoprotein U1 subunit 70	gene	DOID:1324	lung cancer		ISO	RGD:1316126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307120	Snrnp70	small nuclear ribonucleoprotein U1 subunit 70	gene	DOID:150	disease of mental health		ISO	RGD:1316126	D	RGD:10448939|PMID:22454191	20151208	RGD		associated with Lupus Erythematosus, Systemic	
1307120	Snrnp70	small nuclear ribonucleoprotein U1 subunit 70	gene	DOID:3070	high grade glioma		ISO	RGD:1316126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307120	Snrnp70	small nuclear ribonucleoprotein U1 subunit 70	gene	DOID:3275	thymoma		ISO	RGD:1316126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307120	Snrnp70	small nuclear ribonucleoprotein U1 subunit 70	gene	DOID:4362	cervical cancer		ISO	RGD:1316126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307120	Snrnp70	small nuclear ribonucleoprotein U1 subunit 70	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307120	Snrnp70	small nuclear ribonucleoprotein U1 subunit 70	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307120	Snrnp70	small nuclear ribonucleoprotein U1 subunit 70	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316126	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1307120	Snrnp70	small nuclear ribonucleoprotein U1 subunit 70	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1316126	D	RGD:10448939|PMID:22454191	20151208	RGD			
1307120	Snrnp70	small nuclear ribonucleoprotein U1 subunit 70	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1316127	D	RGD:10448935|PMID:10940910	20151208	RGD			
1307121	Lrrc4b	leucine rich repeat containing 4B	gene	DOID:1324	lung cancer		ISO	RGD:1316128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307121	Lrrc4b	leucine rich repeat containing 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307122	Zc2hc1c	zinc finger, C2HC-type containing 1C	gene	DOID:10534	stomach cancer		ISO	RGD:1316129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307122	Zc2hc1c	zinc finger, C2HC-type containing 1C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307122	Zc2hc1c	zinc finger, C2HC-type containing 1C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307124	Ankrd52	ankyrin repeat domain 52	gene	DOID:10534	stomach cancer		ISO	RGD:1601705	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307124	Ankrd52	ankyrin repeat domain 52	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307124	Ankrd52	ankyrin repeat domain 52	gene	DOID:1324	lung cancer		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307124	Ankrd52	ankyrin repeat domain 52	gene	DOID:1909	melanoma		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT	
1307124	Ankrd52	ankyrin repeat domain 52	gene	DOID:3275	thymoma		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307124	Ankrd52	ankyrin repeat domain 52	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307124	Ankrd52	ankyrin repeat domain 52	gene	DOID:4362	cervical cancer		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307124	Ankrd52	ankyrin repeat domain 52	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307124	Ankrd52	ankyrin repeat domain 52	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307124	Ankrd52	ankyrin repeat domain 52	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307124	Ankrd52	ankyrin repeat domain 52	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307124	Ankrd52	ankyrin repeat domain 52	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307124	Ankrd52	ankyrin repeat domain 52	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307126	H2bc14	H2B clustered histone 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307126	H2bc14	H2B clustered histone 14	gene	DOID:10534	stomach cancer		ISO	RGD:1316135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307126	H2bc14	H2B clustered histone 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307126	H2bc14	H2B clustered histone 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307128	Lrrc57	leucine rich repeat containing 57	gene	DOID:1909	melanoma		ISO	RGD:1602825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307128	Lrrc57	leucine rich repeat containing 57	gene	DOID:4362	cervical cancer		ISO	RGD:1602825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307128	Lrrc57	leucine rich repeat containing 57	gene	DOID:5041	esophageal cancer		ISO	RGD:1602825	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307128	Lrrc57	leucine rich repeat containing 57	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307128	Lrrc57	leucine rich repeat containing 57	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307128	Lrrc57	leucine rich repeat containing 57	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307128	Lrrc57	leucine rich repeat containing 57	gene	DOID:9256	colorectal cancer		ISO	RGD:126736038	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:28492532
1307129	Prr13	proline rich 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307129	Prr13	proline rich 13	gene	DOID:1324	lung cancer		ISO	RGD:1604010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307129	Prr13	proline rich 13	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1604010	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21157449
1307129	Prr13	proline rich 13	gene	DOID:4362	cervical cancer		ISO	RGD:1604010	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307129	Prr13	proline rich 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307129	Prr13	proline rich 13	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604010	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307129	Prr13	proline rich 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1316142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation	PMID:25741868|PMID:28492532|PMID:29395073
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1316142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1316142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316142	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:9009152	Neurodegeneration with Brain Iron Accumulation 7		ISO	RGD:1316142	D	RGD:7240710	20190315	OMIM			
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:9009152	Neurodegeneration with Brain Iron Accumulation 7		ISO	RGD:1316142	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 7 | ClinVar Annotator: match by term: REPS1-related condition	PMID:25741868|PMID:28492532|PMID:29395073
1307131	Reps1	RALBP1 associated Eps domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1316142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307132	Slco5a1	solute carrier organic anion transporter family, member 5A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307132	Slco5a1	solute carrier organic anion transporter family, member 5A1	gene	DOID:10534	stomach cancer		ISO	RGD:1316144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307132	Slco5a1	solute carrier organic anion transporter family, member 5A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307132	Slco5a1	solute carrier organic anion transporter family, member 5A1	gene	DOID:1324	lung cancer		ISO	RGD:1316144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307132	Slco5a1	solute carrier organic anion transporter family, member 5A1	gene	DOID:3070	high grade glioma		ISO	RGD:1316144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307132	Slco5a1	solute carrier organic anion transporter family, member 5A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1307132	Slco5a1	solute carrier organic anion transporter family, member 5A1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307132	Slco5a1	solute carrier organic anion transporter family, member 5A1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307132	Slco5a1	solute carrier organic anion transporter family, member 5A1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307132	Slco5a1	solute carrier organic anion transporter family, member 5A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1307132	Slco5a1	solute carrier organic anion transporter family, member 5A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1307132	Slco5a1	solute carrier organic anion transporter family, member 5A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307133	Lamtor3	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307133	Lamtor3	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307133	Lamtor3	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	gene	DOID:3070	high grade glioma		ISO	RGD:1316146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307133	Lamtor3	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307133	Lamtor3	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307133	Lamtor3	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307134	Chchd1	coiled-coil-helix-coiled-coil-helix domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307134	Chchd1	coiled-coil-helix-coiled-coil-helix domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1316148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307134	Chchd1	coiled-coil-helix-coiled-coil-helix domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307134	Chchd1	coiled-coil-helix-coiled-coil-helix domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307136	Zfp367	zinc finger protein 367	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1316151	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581250
1307136	Zfp367	zinc finger protein 367	gene	DOID:1115	sarcoma		ISO	RGD:1316151	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307136	Zfp367	zinc finger protein 367	gene	DOID:1909	melanoma		ISO	RGD:1316151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307136	Zfp367	zinc finger protein 367	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1316151	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34351699
1307136	Zfp367	zinc finger protein 367	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307136	Zfp367	zinc finger protein 367	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1316151	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34351699
1307137	Shc2	SHC adaptor protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307137	Shc2	SHC adaptor protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307137	Shc2	SHC adaptor protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307137	Shc2	SHC adaptor protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307137	Shc2	SHC adaptor protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307137	Shc2	SHC adaptor protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350366	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307137	Shc2	SHC adaptor protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307137	Shc2	SHC adaptor protein 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307137	Shc2	SHC adaptor protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307137	Shc2	SHC adaptor protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307137	Shc2	SHC adaptor protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307138	Tmprss6	transmembrane serine protease 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307138	Tmprss6	transmembrane serine protease 6	gene	DOID:10534	stomach cancer		ISO	RGD:1316154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307138	Tmprss6	transmembrane serine protease 6	gene	DOID:11252	microcytic anemia		ISO	RGD:1316154	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307138	Tmprss6	transmembrane serine protease 6	gene	DOID:11252	microcytic anemia		ISO	RGD:1316154	D	RGD:7240710	20130221	OMIM			
1307138	Tmprss6	transmembrane serine protease 6	gene	DOID:11252	microcytic anemia		ISO	RGD:1316154	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IRON-REFRACTORY IRON DEFICIENCY ANEMIA | ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: Microcytic anemia | ClinVar Annotator: match by term: PSEUDO-IRON-DEFICIENCY ANEMIA | ClinVar Annotator: match by term: TMPRSS6-related condition	PMID:16199547|PMID:17576681|PMID:18408718|PMID:18596229|PMID:19357398|PMID:20232450|PMID:21783390|PMID:23319530|PMID:24382527|PMID:25156943|PMID:25525159|PMID:25588876|PMID:25741868|PMID:25873000|PMID:27365303|PMID:27643674|PMID:28492532|PMID:29895660|PMID:32581362|PMID:9536098
1307138	Tmprss6	transmembrane serine protease 6	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1316154	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18408718|PMID:22169218
1307138	Tmprss6	transmembrane serine protease 6	gene	DOID:3275	thymoma		ISO	RGD:1316154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307138	Tmprss6	transmembrane serine protease 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1316154	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307138	Tmprss6	transmembrane serine protease 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307138	Tmprss6	transmembrane serine protease 6	gene	DOID:630	genetic disease		ISO	RGD:1316154	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307138	Tmprss6	transmembrane serine protease 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307138	Tmprss6	transmembrane serine protease 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1316156	D	RGD:1598912|PMID:16947863	20061221	RGD			
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1316156	D	RGD:7246919|PMID:22824526	20130626	RGD			
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1316156	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum	PMID:16550608|PMID:16947863|PMID:25741868|PMID:25910212|PMID:28492532|PMID:30256826|PMID:33332384|PMID:34308104
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0110850	xeroderma pigmentosum group B		ISO	RGD:1316156	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0110850	xeroderma pigmentosum group B		ISO	RGD:1316156	D	RGD:7240710	20130425	OMIM			
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0110850	xeroderma pigmentosum group B		ISO	RGD:1316156	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: XPB/CS | ClinVar Annotator: match by term: Xeroderma pigmentosum group B | ClinVar Annotator: match by term: xeroderma pigmentosum group B	PMID:16947863|PMID:25741868|PMID:26884178|PMID:28492532|PMID:28873162|PMID:29376097|PMID:30256826|PMID:33332384|PMID:34308104
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0110850	xeroderma pigmentosum group B		ISS	RGD:1316157	D	RGD:13592920	20230718	MouseDO		OMIM:610651	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0111866	trichothiodystrophy		ISO	RGD:1316156	D	RGD:13207496|PMID:9012405	20130626	RGD		DNA:missense mutation:cds:p.T119P (human)	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0111869	photosensitive trichothiodystrophy 2		ISO	RGD:1316156	D	RGD:13207496|PMID:9012405	20170919	RGD		DNA:missense mutation:cds:p.T119P (human)	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0111869	photosensitive trichothiodystrophy 2		ISO	RGD:1316156	D	RGD:7240710	20170920	OMIM			
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0111869	photosensitive trichothiodystrophy 2		ISO	RGD:1316156	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ERCC3-related condition | ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE | ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive	PMID:16947863|PMID:25741868|PMID:26884178|PMID:28492532|PMID:28873162|PMID:29376097|PMID:30256826|PMID:33332384|PMID:34308104
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1316156	D	RGD:5688738|PMID:9714461	20150924	RGD		protein:increased expression:brain	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:11088	asphyxia neonatorum		IEP		D	RGD:2302855|PMID:9763211	20150924	RGD		mRNA:decreased expression:brain	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:1324	lung cancer		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:14250	Down syndrome		ISO	RGD:1316156	D	RGD:13207452|PMID:10328528	20150924	RGD		mRNA:increased expression:brain (human)	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:16947863|PMID:35101336
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:1909	melanoma		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:2394	ovarian cancer		ISO	RGD:1316156	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1316156	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME	PMID:16199547|PMID:16947863|PMID:25741868|PMID:28492532|PMID:33332384|PMID:34308104
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1316157	D	RGD:10401087|PMID:19114557	20150924	RGD			
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1316156	D	RGD:11098167|PMID:25069034	20170801	RGD		DNA:snp:intron:c.2064+741T>C (rs3738948) (human)	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1316156	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:630	genetic disease		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16550608|PMID:16947863|PMID:25741868|PMID:25910212|PMID:26884178|PMID:28492532|PMID:29376097
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hearing loss	PMID:16947863|PMID:28492532|PMID:31541171
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:9005172	Lung Neoplasms	susceptibility	ISO	RGD:1316156	D	RGD:13207447|PMID:16835333	20170801	RGD		DNA:snps, haplotype:introns:c.43-61A>G, c.1151-2708A>G,  (rs2271026, rs4150441) (human)	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1316156	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12569548
1307139	Ercc3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1316156	D	RGD:155260343|PMID:16951227	20221004	RGD		mRNA:increased expression:colorectum (human)	
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:0070152	hereditary sensory and autonomic neuropathy type 1A		ISO	RGD:1315336	D	RGD:7240710	20130221	OMIM			
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:0070152	hereditary sensory and autonomic neuropathy type 1A		ISO	RGD:1315336	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Sensory Neuropathy Type IA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, SEVERE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1A	PMID:11242114|PMID:11781309|PMID:15037712|PMID:19132419|PMID:19651702|PMID:20097765|PMID:20301564|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24247255|PMID:24673574|PMID:24711860|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:32399692|PMID:34190362|PMID:34459874|PMID:8673084
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:0070162	hereditary sensory and autonomic neuropathy type 1		ISO	RGD:1315336	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Sensory Neuropathy Type I | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 | ClinVar Annotator: match by term: Neuropathy hereditary sensory and autonomic type 1	PMID:11242106|PMID:11242114|PMID:11781309|PMID:14990347|PMID:15037712|PMID:16199547|PMID:16210380|PMID:16364956|PMID:17060578|PMID:17576681|PMID:18018475|PMID:19132419|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20301564|PMID:21618344|PMID:22302274|PMID:24088041|PMID:24673574|PMID:24711860|PMID:25584079|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30311386|PMID:30373780|PMID:30420926|PMID:31742231|PMID:32376792|PMID:32399692|PMID:33879512|PMID:34103343|PMID:34190362|PMID:34459874|PMID:34837038|PMID:36966328|PMID:38927628|PMID:8673084|PMID:9536098
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:0081381	juvenile amyotrophic lateral sclerosis type 27		ISO	RGD:1315336	D	RGD:7240710	20230505	OMIM			
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:0081381	juvenile amyotrophic lateral sclerosis type 27		ISO	RGD:1315336	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 27, juvenile | ClinVar Annotator: match by term: SPTLC1-related condition	PMID:11242114|PMID:11781309|PMID:19132419|PMID:20097765|PMID:20301564|PMID:24673574|PMID:24711860|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:32376792|PMID:32399692|PMID:34059824|PMID:34190362|PMID:8673084
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1315336	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:11242106|PMID:11242114|PMID:11479835|PMID:12417569|PMID:13646503|PMID:14152213|PMID:15037712|PMID:15546589|PMID:16210380|PMID:16364956|PMID:18018475|PMID:19132419|PMID:19555464|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24247255|PMID:24604904|PMID:24673574|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:28166811|PMID:28492532|PMID:31509666|PMID:32376792|PMID:32581362
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1315336	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:11242106|PMID:11242114|PMID:11781309|PMID:14990347|PMID:15037712|PMID:15546589|PMID:16210380|PMID:16364956|PMID:17060578|PMID:18018475|PMID:19132419|PMID:19923297|PMID:20097765|PMID:20301564|PMID:22302274|PMID:24604904|PMID:24673574|PMID:24711860|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:32376792|PMID:32399692|PMID:32581362|PMID:34103343|PMID:8673084
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:10907	microcephaly		ISO	RGD:1315336	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:10941	intracranial aneurysm		ISO	RGD:1315336	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Posterior communicating artery aneurysm	PMID:11242114|PMID:11781309|PMID:19132419|PMID:20097765|PMID:20301564|PMID:24673574|PMID:24711860|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:32399692|PMID:8673084
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1315336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1315336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1315336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1315336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868|PMID:28492532|PMID:33879512
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1315336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11242114|PMID:11781309|PMID:13646503|PMID:15037712|PMID:19132419|PMID:20097765|PMID:20301564|PMID:24673574|PMID:24711860|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:32399692|PMID:34986032|PMID:8673084
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1315336	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11242114|PMID:11781309|PMID:15037712|PMID:19132419|PMID:20097765|PMID:20301564|PMID:24673574|PMID:24711860|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:32376792|PMID:32399692|PMID:34103343|PMID:8673084
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:9001521	Subdural Hematoma		ISO	RGD:1315336	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Subdural hemorrhage	PMID:11242114|PMID:11781309|PMID:19132419|PMID:20097765|PMID:20301564|PMID:24673574|PMID:24711860|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:32399692|PMID:8673084
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:9003242	Paresthesia		ISO	RGD:1315336	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Paresthesia	PMID:11242114|PMID:11781309|PMID:19132419|PMID:20097765|PMID:20301564|PMID:24673574|PMID:24711860|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:32399692|PMID:8673084
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1315336	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deep venous thrombosis	PMID:11242114|PMID:11781309|PMID:19132419|PMID:20097765|PMID:20301564|PMID:24673574|PMID:24711860|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:32399692|PMID:8673084
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1315336	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:11242114|PMID:11781309|PMID:19132419|PMID:20097765|PMID:20301564|PMID:24673574|PMID:24711860|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:32399692|PMID:8673084
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1315336	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:11242114|PMID:11781309|PMID:19132419|PMID:20097765|PMID:20301564|PMID:24673574|PMID:24711860|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:32399692|PMID:8673084
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307140	Sptlc1	serine palmitoyltransferase, long chain base subunit 1	gene	DOID:9477	pulmonary embolism		ISO	RGD:1315336	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism	PMID:11242114|PMID:11781309|PMID:19132419|PMID:20097765|PMID:20301564|PMID:24673574|PMID:24711860|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:32399692|PMID:8673084
1307142	Pls1	plastin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307142	Pls1	plastin 1	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:1316159	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss	PMID:30872814|PMID:36537221
1307142	Pls1	plastin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307142	Pls1	plastin 1	gene	DOID:0112167	autosomal dominant nonsyndromic deafness 76		ISO	RGD:1316159	D	RGD:7240710	20200318	OMIM			
1307142	Pls1	plastin 1	gene	DOID:0112167	autosomal dominant nonsyndromic deafness 76		ISO	RGD:1316159	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 76 | ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition	PMID:25741868|PMID:28492532
1307142	Pls1	plastin 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1316159	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
1307142	Pls1	plastin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307142	Pls1	plastin 1	gene	DOID:1115	sarcoma		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307142	Pls1	plastin 1	gene	DOID:1210	optic neuritis		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic neuritis	
1307142	Pls1	plastin 1	gene	DOID:1324	lung cancer		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307142	Pls1	plastin 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
1307142	Pls1	plastin 1	gene	DOID:1909	melanoma		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307142	Pls1	plastin 1	gene	DOID:3275	thymoma		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307142	Pls1	plastin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307142	Pls1	plastin 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307142	Pls1	plastin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307142	Pls1	plastin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307142	Pls1	plastin 1	gene	DOID:5723	optic atrophy		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	
1307142	Pls1	plastin 1	gene	DOID:630	genetic disease		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307142	Pls1	plastin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307142	Pls1	plastin 1	gene	DOID:9001581	Constipation		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1307142	Pls1	plastin 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	
1307142	Pls1	plastin 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1307142	Pls1	plastin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307142	Pls1	plastin 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1316159	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:17114358
1307142	Pls1	plastin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307142	Pls1	plastin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307143	Zbtb17	zinc finger and BTB domain containing 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307143	Zbtb17	zinc finger and BTB domain containing 17	gene	DOID:10534	stomach cancer		ISO	RGD:1347626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307143	Zbtb17	zinc finger and BTB domain containing 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307143	Zbtb17	zinc finger and BTB domain containing 17	gene	DOID:1115	sarcoma		ISO	RGD:1347626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307143	Zbtb17	zinc finger and BTB domain containing 17	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1347626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:25741868
1307143	Zbtb17	zinc finger and BTB domain containing 17	gene	DOID:4362	cervical cancer		ISO	RGD:1347626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307143	Zbtb17	zinc finger and BTB domain containing 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1347626	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307143	Zbtb17	zinc finger and BTB domain containing 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307143	Zbtb17	zinc finger and BTB domain containing 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307143	Zbtb17	zinc finger and BTB domain containing 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307143	Zbtb17	zinc finger and BTB domain containing 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316162	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:0060081	triple-negative breast cancer		ISO	RGD:1316162	D	RGD:9684941|PMID:21965755	20141210	RGD		protein:increased expression:breast:	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:0080199	colorectal carcinoma	treatment	ISO	RGD:1316162	D	RGD:9684940|PMID:19528090	20141210	RGD			
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:0112249	GAPO syndrome		ISO	RGD:1316162	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:0112249	GAPO syndrome		ISO	RGD:1316162	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANTXR1-related condition | ClinVar Annotator: match by term: GAPO SYNDROME | ClinVar Annotator: match by term: GAPO syndrome	PMID:23602711|PMID:24033266|PMID:25045128|PMID:25741868|PMID:28492532
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:0112249	GAPO syndrome		ISO	RGD:1316162	D	RGD:9684854|PMID:23602711	20141209	RGD		DNA:missense mutations:cds:c.505C>T,c.262C>T (human)	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:0112249	GAPO syndrome	susceptibility	ISO	RGD:1316162	D	RGD:7240710	20260805	OMIM			
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1316162	D	RGD:9684946|PMID:17016666	20141210	RGD		mRNA:increased expression:breast:	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:1909	melanoma		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316162	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:4948	gallbladder carcinoma	severity	ISO	RGD:1316162	D	RGD:9684943|PMID:21545221	20141210	RGD			
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316162	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:630	genetic disease		ISO	RGD:1316162	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28655553|PMID:29436111|PMID:36413997
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1316163	D	RGD:9684932|PMID:20650339	20141210	RGD			
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1316162	D	RGD:9684855|PMID:22085271	20141210	RGD		associated with Mammary Neoplasms, Experimental;	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:9004118	Experimental Melanoma		ISO	RGD:1316163	D	RGD:9684925|PMID:19622764	20141210	RGD			
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:9004118	Experimental Melanoma	treatment	ISO	RGD:1316162	D	RGD:9684939|PMID:19609240	20141210	RGD			
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:9005233	Experimental Mammary Neoplasms	disease_progression	ISO	RGD:1316162	D	RGD:9684855|PMID:22085271	20141210	RGD			
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:9008660	Infantile Capillary Hemangioma		ISO	RGD:1316162	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:9008660	Infantile Capillary Hemangioma		ISO	RGD:1316162	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:9008660	Infantile Capillary Hemangioma	susceptibility	ISO	RGD:1316162	D	RGD:7240710	20260805	OMIM			
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307144	Antxr1	ANTXR cell adhesion molecule 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1316162	D	RGD:9684945|PMID:21573768	20141210	RGD		mRNA:increased expression:blood:	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1316164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1316164	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1316164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:3275	thymoma		ISO	RGD:1316164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1316164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316164	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307145	Ppp6r3	protein phosphatase 6, regulatory subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307146	Dusp22	dual specificity phosphatase 22	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307146	Dusp22	dual specificity phosphatase 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307146	Dusp22	dual specificity phosphatase 22	gene	DOID:1324	lung cancer		ISO	RGD:1316166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1307146	Dusp22	dual specificity phosphatase 22	gene	DOID:13938	amenorrhea		ISO	RGD:1316166	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
1307146	Dusp22	dual specificity phosphatase 22	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307146	Dusp22	dual specificity phosphatase 22	gene	DOID:4362	cervical cancer		ISO	RGD:1316166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307146	Dusp22	dual specificity phosphatase 22	gene	DOID:5041	esophageal cancer		ISO	RGD:1316166	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307146	Dusp22	dual specificity phosphatase 22	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307146	Dusp22	dual specificity phosphatase 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307146	Dusp22	dual specificity phosphatase 22	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316166	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307146	Dusp22	dual specificity phosphatase 22	gene	DOID:9003566	Mesothelioma		ISO	RGD:1316166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307146	Dusp22	dual specificity phosphatase 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307146	Dusp22	dual specificity phosphatase 22	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307146	Dusp22	dual specificity phosphatase 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307147	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307147	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:10534	stomach cancer		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307147	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307147	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:3275	thymoma		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307147	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:4362	cervical cancer		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307147	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307147	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307147	Mrpl2	mitochondrial ribosomal protein L2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0014667	disease of metabolism		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic disease	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532|PMID:38747114
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0050560	Walker-Warburg syndrome		ISS	RGD:1316171	D	RGD:13592920	20180518	MouseDO		OMIM:236670 | OMIM:253280	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0050562	West syndrome		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:29801666|PMID:3691802|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0050591	tooth agenesis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:16199547|PMID:23225343|PMID:25741868|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0050847	sleep apnea		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0051061	stroke		ISO	RGD:1316170	D	RGD:1581205|PMID:16374828	19990101	RGD			
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0051062	ischemic stroke		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:12525718|PMID:15882279|PMID:15905400|PMID:16107487|PMID:16374828|PMID:16598045|PMID:17696175|PMID:17938367|PMID:18160688|PMID:19194877|PMID:19840616|PMID:19949034|PMID:21625620|PMID:22574627|PMID:23065703|PMID:23394911|PMID:26220970|PMID:6428250
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0060263	porencephaly		ISO	RGD:1316170	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:607595|PMID:23225343
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0060263	porencephaly		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial porencephaly | ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Porencephaly	PMID:16159887|PMID:16199547|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:1867713|PMID:19344236|PMID:20301768|PMID:21527998|PMID:21625620|PMID:22102590|PMID:22522439|PMID:22574627|PMID:22914737|PMID:22932948|PMID:23225343|PMID:24088041|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25590979|PMID:25719457|PMID:25741868|PMID:25873210|PMID:26362372|PMID:26467025|PMID:26633545|PMID:28098982|PMID:28442301|PMID:28492532|PMID:29137252|PMID:29602769|PMID:30181649|PMID:30413629|PMID:31008308|PMID:31051113|PMID:31069529|PMID:31230195|PMID:31719132|PMID:31857254|PMID:31903434|PMID:32033901|PMID:32499604|PMID:32515830|PMID:32732225|PMID:32818659|PMID:33353976|PMID:33527515|PMID:35711275|PMID:36035189|PMID:36161833|PMID:3691802|PMID:37830085|PMID:38025229|PMID:38298677|PMID:38747114|PMID:39654947|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0060263	porencephaly		ISS	RGD:1316171	D	RGD:13592920	20230718	MouseDO			
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:1316170	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Ocular anterior segment dysgenesis	PMID:17078022|PMID:19344236|PMID:25590979|PMID:25741868|PMID:28492532|PMID:30181649|PMID:32499604|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0060673	Peters anomaly		ISO	RGD:1316170	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0070297	primary microcephaly		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:17078022|PMID:19344236|PMID:22574627|PMID:22914737|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:28098982|PMID:28492532|PMID:31051113|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract	PMID:25741868|PMID:28492532|PMID:31230195|PMID:38025229
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:19344236|PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0090125	brain small vessel disease 1		ISO	RGD:1316170	D	RGD:7240710	20260722	OMIM			
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0090125	brain small vessel disease 1		ISO	RGD:1316170	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT	PMID:10713126|PMID:10896941|PMID:12011424|PMID:15023374|PMID:15136694|PMID:15905400|PMID:16107487|PMID:16159887|PMID:16199547|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18077766|PMID:19194877|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:21527998|PMID:21625620|PMID:22102590|PMID:2211826|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:23394911|PMID:24088041|PMID:24374867|PMID:24628545|PMID:25326635|PMID:25457163|PMID:25719457|PMID:25741868|PMID:25741869|PMID:26310487|PMID:26362372|PMID:26467025|PMID:26633545|PMID:28017902|PMID:28369186|PMID:28492532|PMID:29602769|PMID:29927466|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31857254|PMID:32033901|PMID:32042920|PMID:32488064|PMID:32515830|PMID:32732225|PMID:32818659|PMID:33298904|PMID:33353976|PMID:33527515|PMID:34906502|PMID:3691802|PMID:6428250|PMID:7257746|PMID:7695699|PMID:8218237|PMID:9016532|PMID:906807|PMID:9536098|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0090125	brain small vessel disease 1		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE | ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage | ClinVar Annotator: match by term: Brain small vessel disease with or without ocular anomalies | ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: brain small vessel disease 1 with or without ocular anomalies	PMID:15905400|PMID:16159887|PMID:16199547|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:1867713|PMID:19344236|PMID:20301386|PMID:20301768|PMID:21527998|PMID:21625620|PMID:22102590|PMID:22223490|PMID:22522439|PMID:22574627|PMID:22914737|PMID:22932948|PMID:23065703|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25590979|PMID:25706114|PMID:25719457|PMID:25741868|PMID:25741869|PMID:26362372|PMID:26467025|PMID:28098982|PMID:28442301|PMID:28492532|PMID:29137252|PMID:29602769|PMID:30181649|PMID:30413629|PMID:30837194|PMID:31008308|PMID:31051113|PMID:31069529|PMID:31230195|PMID:31719132|PMID:31857254|PMID:31903434|PMID:32033901|PMID:32042920|PMID:32446163|PMID:32488064|PMID:32499604|PMID:32515830|PMID:32720330|PMID:32732225|PMID:32818659|PMID:33298904|PMID:33353976|PMID:33527515|PMID:34906502|PMID:35325889|PMID:35711275|PMID:36035189|PMID:36161833|PMID:3691802|PMID:37291213|PMID:37830085|PMID:38025229|PMID:38747114|PMID:39433808|PMID:39654947|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0090125	brain small vessel disease 1		ISS	RGD:1316171	D	RGD:13592920	20230718	MouseDO		OMIM:175780	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:17078022|PMID:19344236|PMID:28098982|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0111365	benign familial hematuria		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria	PMID:19344236|PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0111547	retinal arterial tortuosity		ISO	RGD:1316170	D	RGD:7240710	20260722	OMIM			
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0111547	retinal arterial tortuosity		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of	PMID:16598045|PMID:17078022|PMID:17576681|PMID:17938367|PMID:19344236|PMID:20301386|PMID:22102590|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26362372|PMID:26467025|PMID:28098982|PMID:28492532|PMID:30413629|PMID:31008308|PMID:31051113|PMID:31069529|PMID:31230195|PMID:31719132|PMID:31857254|PMID:31903434|PMID:32033901|PMID:33353976|PMID:33527515|PMID:35325889|PMID:35711275|PMID:3691802|PMID:37291213|PMID:38025229|PMID:39654947|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:0112313	brain small vessel disease		ISO	RGD:1316170	D	RGD:11554173	20200211	CTD		CTD Direct Evidence: marker/mechanism	PMID:16598045|PMID:17696175
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:10126	keratoconus		ISO	RGD:1316170	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Keratoconus	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:10300	Raynaud disease		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Raynaud phenomenon	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:10579	leukodystrophy		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1059	intellectual disability		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532|PMID:3691802|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1059	intellectual disability		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28492532|PMID:33268848|PMID:3691802|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1074	kidney failure		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney failure | ClinVar Annotator: match by term: Renal insufficiency	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:10907	microcephaly		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:3691802|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:10908	hydrocephalus		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aqueductal stenosis | ClinVar Annotator: match by term: Hydrocephalus	PMID:22223490|PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:3691802|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:11111	hydronephrosis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:17078022|PMID:19344236|PMID:20301386|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532|PMID:38747114
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:11782	astigmatism		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:29801666|PMID:3691802|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1316170	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:1281619
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:12361	Graves' disease		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Graves disease	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:12835	quadriplegia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraplegia	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:12849	autistic disorder		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1316170	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16191423|PMID:18682491
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:13223	uterine fibroid		ISO	RGD:1316170	D	RGD:401851920|PMID:23818951	20231031	RGD		DNA:hypomethylation:uterus (human)	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1432	blindness		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:17078022|PMID:19344236|PMID:22574627|PMID:22914737|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:28098982|PMID:28492532|PMID:31051113|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1459	hypothyroidism		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:14686	Axenfeld-Rieger syndrome		ISO	RGD:1316170	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:17696175|PMID:20385946
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:14686	Axenfeld-Rieger syndrome		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Axenfeld anomaly	PMID:16199547|PMID:23225343|PMID:25741868|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1558	angioedema		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angioedema	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1596	depressive disorder		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1686	glaucoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:3691802|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1712	aortic valve stenosis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:19344236|PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1826	epilepsy		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17078022|PMID:19344236|PMID:20301768|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26467025|PMID:28098982|PMID:28492532|PMID:31051113|PMID:33353976|PMID:33527515|PMID:34120799|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1827	generalized epilepsy		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1936	atherosclerosis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atherosclerosis	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:1969	cerebral palsy		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:2030	anxiety disorder		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:2034	encephalomalacia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalomalacia	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:2234	focal epilepsy		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:2316	brain ischemia		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebral ischemia	PMID:17078022|PMID:19344236|PMID:22574627|PMID:22914737|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:28098982|PMID:28492532|PMID:31051113|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:2340	craniosynostosis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:2841	asthma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:2975	cystic kidney disease		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532|PMID:38747114
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532|PMID:38747114
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:480	movement disease		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:5119	ovarian cyst		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cyst	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:5214	demyelinating polyneuropathy		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Demyelinating peripheral neuropathy	PMID:23225343|PMID:25741868|PMID:28492532|PMID:34120799
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:557	kidney disease		ISS	RGD:1316171	D	RGD:13592920	20180518	MouseDO			
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:5723	optic atrophy		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:583	hemolytic anemia		ISO	RGD:1316170	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:23225343
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1316170	D	RGD:2311341|PMID:18077766	20090708	RGD		DNA:polymorphism: :p.Q1334H (human)	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:607	paraplegia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:23225343|PMID:25741868|PMID:28492532|PMID:34120799
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10713126|PMID:10896941|PMID:12011424|PMID:12525718|PMID:15882279|PMID:15905400|PMID:16107487|PMID:16159887|PMID:16374828|PMID:16598045|PMID:17078022|PMID:17696175|PMID:17938367|PMID:18160688|PMID:1867713|PMID:19194877|PMID:19344236|PMID:19477666|PMID:19840616|PMID:19949034|PMID:20385946|PMID:20733150|PMID:21625620|PMID:2211826|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:23394911|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26220970|PMID:26467025|PMID:28098982|PMID:28442301|PMID:28492532|PMID:29137252|PMID:29801666|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31069529|PMID:31230195|PMID:32446163|PMID:32732225|PMID:33268848|PMID:33353976|PMID:33527515|PMID:34114234|PMID:35150448|PMID:35711275|PMID:36035189|PMID:3691802|PMID:37644014|PMID:37830085|PMID:38025229|PMID:39654947|PMID:6428250|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10713126|PMID:10896941|PMID:12011424|PMID:12525718|PMID:15882279|PMID:15905400|PMID:16107487|PMID:16159887|PMID:16374828|PMID:16598045|PMID:17078022|PMID:17696175|PMID:17938367|PMID:18160688|PMID:1867713|PMID:19194877|PMID:19344236|PMID:19840616|PMID:19949034|PMID:21625620|PMID:2211826|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:23394911|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26220970|PMID:26467025|PMID:28098982|PMID:28442301|PMID:28492532|PMID:29137252|PMID:29801666|PMID:30413629|PMID:31051113|PMID:31069529|PMID:31230195|PMID:32446163|PMID:32732225|PMID:33268848|PMID:33353976|PMID:33527515|PMID:35150448|PMID:35711275|PMID:36035189|PMID:3691802|PMID:37830085|PMID:38025229|PMID:39654947|PMID:6428250|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:6432	pulmonary hypertension	treatment	IEP		D	RGD:11041577|PMID:25867313	20160324	RGD			
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:784	chronic kidney disease		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:7998	hyperthyroidism		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:83	cataract		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:30413629|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:848	arthritis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:865	vasculitis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:8725	vascular dementia		ISO	RGD:1316170	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:28492532|PMID:33268848|PMID:35307828
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9000053	Headache		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9000343	Vision Disorders		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:29801666|PMID:3691802|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9000363	Hematuria		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria	PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:30413629|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9000373	Muscle Cramp		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: muscle cramp	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9000727	Syncope		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868|PMID:28442301|PMID:28492532|PMID:32732225
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9001144	Primary Headache Disorders		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypnic headache	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316170	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9001581	Constipation		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:17078022|PMID:19344236|PMID:20301386|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9001585	Intraventricular Hemorrhage		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intraventricular hemorrhage	PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:30413629|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9001733	Tinnitus		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1316170	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:16199547|PMID:23225343|PMID:25741868|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1316170	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:18682491|PMID:27997345
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1316171	D	RGD:2311340|PMID:19466391	20090708	RGD		associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA:increased expression:kidney	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1316171	D	RGD:2311342|PMID:17582205	20090708	RGD		associated with Diabetes Mellitus, Experimental	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002417	Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant		ISO	RGD:1316170	D	RGD:7240710	20260722	OMIM			
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002417	Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE | ClinVar Annotator: match by term: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	PMID:17078022|PMID:17576681|PMID:19344236|PMID:20301386|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25425218|PMID:25457163|PMID:25741868|PMID:26467025|PMID:27666438|PMID:28098982|PMID:28442301|PMID:28492532|PMID:30413629|PMID:31008308|PMID:31051113|PMID:31069529|PMID:31230195|PMID:31719132|PMID:31903434|PMID:32732225|PMID:33353976|PMID:33527515|PMID:34120799|PMID:34415564|PMID:35325889|PMID:35711275|PMID:36786861|PMID:3691802|PMID:37291213|PMID:37475185|PMID:37830085|PMID:38025229|PMID:39654947|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:23225343|PMID:25741868|PMID:28492532|PMID:34120799
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1316170	D	RGD:11554173	20200211	CTD		CTD Direct Evidence: marker/mechanism	PMID:16598045
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1316170	D	RGD:7240710	20260722	OMIM			
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1316170	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to	PMID:16159887|PMID:16199547|PMID:17078022|PMID:17576681|PMID:19344236|PMID:21625620|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:28492532|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral hemorrhage | ClinVar Annotator: match by term: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to	PMID:16159887|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17938367|PMID:19344236|PMID:20301386|PMID:21527998|PMID:21625620|PMID:22102590|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26362372|PMID:26467025|PMID:28098982|PMID:28492532|PMID:30413629|PMID:31008308|PMID:31051113|PMID:31069529|PMID:31230195|PMID:31719132|PMID:31857254|PMID:31903434|PMID:32033901|PMID:33353976|PMID:33527515|PMID:35325889|PMID:35711275|PMID:3691802|PMID:37291213|PMID:38025229|PMID:39654947|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1316170|RGD:1316171	D	RGD:1581204|PMID:16598045	19990101	RGD			
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1316170	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:20385946
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intracranial Hemorrhages	PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:30413629|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9003133	Hypertelorism		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9003171	Primary Dysautonomias		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysautonomia	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9003286	Diplopia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diplopia	PMID:23225343|PMID:25741868|PMID:28492532|PMID:34120799
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9003443	Central Nervous System Vascular Malformations		ISO	RGD:1316170|RGD:1316171	D	RGD:1581204|PMID:16598045	19990101	RGD			
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9003507	Premature Birth		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9003529	Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps		ISO	RGD:1316170	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9003529	Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps		ISO	RGD:1316170	D	RGD:7240710	20260722	OMIM			
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9003529	Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS | ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	PMID:17078022|PMID:17576681|PMID:19344236|PMID:20301768|PMID:21527998|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26467025|PMID:28098982|PMID:28492532|PMID:31008308|PMID:31051113|PMID:31069529|PMID:31230195|PMID:31719132|PMID:31903434|PMID:33353976|PMID:33527515|PMID:35711275|PMID:3691802|PMID:38025229|PMID:39654947|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9003760	Myalgia		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:17078022|PMID:19344236|PMID:28098982|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9003824	Infectious Encephalitis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infectious encephalitis	PMID:23225343|PMID:25741868|PMID:28492532|PMID:34120799
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9004125	Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hemangioma	PMID:17078022|PMID:19344236|PMID:20301386|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9004139	Hemoptysis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemoptysis	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9004327	Colpocephaly		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:16199547|PMID:23225343|PMID:25741868|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9004866	Ataxia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:26467025|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:19344236|PMID:25741868|PMID:3691802|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:17078022|PMID:19344236|PMID:28098982|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:17078022|PMID:19344236|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29801666|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9005950	Orthostatic Hypotension		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orthostatic hypotension	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9006065	Arthralgia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9006617	Fatigue		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:17078022|PMID:19344236|PMID:20301386|PMID:25741868|PMID:28098982|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9006637	Schizencephaly		ISO	RGD:1316170	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:23225343
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9006637	Schizencephaly		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:17078022|PMID:19344236|PMID:22574627|PMID:22914737|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:28098982|PMID:28492532|PMID:31051113|PMID:32732225|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9006743	Spasm		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:23225343|PMID:25741868|PMID:28492532|PMID:34120799
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9007077	Actin-Accumulation Myopathy		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Actin accumulation myopathy	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9007573	Flatfoot		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:3691802|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:12525718|PMID:15882279|PMID:15905400|PMID:16107487|PMID:16374828|PMID:16598045|PMID:17696175|PMID:17938367|PMID:18160688|PMID:19194877|PMID:19840616|PMID:19949034|PMID:21625620|PMID:22574627|PMID:23065703|PMID:23394911|PMID:26220970|PMID:6428250
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9007736	Vertigo		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9008023	Memory Disorders		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:23225343|PMID:25741868|PMID:28492532|PMID:34120799
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17078022|PMID:19344236|PMID:20301768|PMID:22574627|PMID:22914737|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26467025|PMID:28098982|PMID:28492532|PMID:31051113|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1316170	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:20385946
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9008421	Epistaxis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9008830	Vasovagal Syncope		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasovagal syncope	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:930	orbital disease		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:16199547|PMID:23225343|PMID:25741868|PMID:28492532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:936	brain disease		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9477	pulmonary embolism		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism	PMID:25741868
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:17078022|PMID:19344236|PMID:20301386|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:3691802|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9775	diastolic heart failure		ISO	RGD:1316170	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9834	hyperopia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:29801666|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9970	obesity		IEP		D	RGD:401965413|PMID:28746409	20240206	RGD		mRNA:increased expression:kidney (rat)	
1307148	Col4a1	collagen type IV alpha 1 chain	gene	DOID:9970	obesity		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1307149	Colec10	collectin subfamily member 10	gene	DOID:0060577	3MC syndrome 3		ISO	RGD:1316172	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307149	Colec10	collectin subfamily member 10	gene	DOID:0060577	3MC syndrome 3		ISO	RGD:1316172	D	RGD:7240710	20190315	OMIM			
1307149	Colec10	collectin subfamily member 10	gene	DOID:0060577	3MC syndrome 3		ISO	RGD:1316172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 3MC SYNDROME 3 | ClinVar Annotator: match by term: 3MC syndrome 3 | ClinVar Annotator: match by term: COLEC10-related condition	PMID:25741868
1307149	Colec10	collectin subfamily member 10	gene	DOID:3275	thymoma		ISO	RGD:1316172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307149	Colec10	collectin subfamily member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307149	Colec10	collectin subfamily member 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316172	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307150	Spink8	serine peptidase inhibitor, Kazal type 8	gene	DOID:10534	stomach cancer		ISO	RGD:1606051	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307151	Plekhm3	pleckstrin homology domain containing M3	gene	DOID:1115	sarcoma		ISO	RGD:2292191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307151	Plekhm3	pleckstrin homology domain containing M3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2292191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307151	Plekhm3	pleckstrin homology domain containing M3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:2292191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307151	Plekhm3	pleckstrin homology domain containing M3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2292191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307151	Plekhm3	pleckstrin homology domain containing M3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2292191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307151	Plekhm3	pleckstrin homology domain containing M3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2292191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307153	Chac1	ChaC glutathione-specific gamma-glutamylcyclotransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307153	Chac1	ChaC glutathione-specific gamma-glutamylcyclotransferase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1604291	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307153	Chac1	ChaC glutathione-specific gamma-glutamylcyclotransferase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1604291	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307153	Chac1	ChaC glutathione-specific gamma-glutamylcyclotransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1604291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307153	Chac1	ChaC glutathione-specific gamma-glutamylcyclotransferase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1604291	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307153	Chac1	ChaC glutathione-specific gamma-glutamylcyclotransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307154	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307154	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307154	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:1115	sarcoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307154	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:1909	melanoma		ISO	RGD:1316177	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17145863
1307154	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:1909	melanoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307154	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307154	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307154	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307154	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307154	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307154	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307154	Dnajc15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307155	Mettl26	methyltransferase like 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307155	Mettl26	methyltransferase like 26	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307155	Mettl26	methyltransferase like 26	gene	DOID:1324	lung cancer		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307155	Mettl26	methyltransferase like 26	gene	DOID:3070	high grade glioma		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307155	Mettl26	methyltransferase like 26	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307155	Mettl26	methyltransferase like 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307155	Mettl26	methyltransferase like 26	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307155	Mettl26	methyltransferase like 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:0060284	paroxysmal nocturnal hemoglobinuria		ISO	RGD:1316180	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:25417052
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3		ISO	RGD:1316180	D	RGD:7240710	20140911	OMIM			
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3		ISO	RGD:1316180	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder	PMID:17576681|PMID:23636107|PMID:24906948|PMID:25741868|PMID:25943031|PMID:27916860|PMID:28327575|PMID:28492532|PMID:30976099|PMID:32220244|PMID:32404165|PMID:32581362|PMID:34046058|PMID:36177944|PMID:9536098
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:10534	stomach cancer		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:1059	intellectual disability		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28327575|PMID:28492532|PMID:30976099|PMID:34046058
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:10908	hydrocephalus		ISO	RGD:1316180	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28492532|PMID:34046058
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	PMID:25741868|PMID:28327575|PMID:28492532|PMID:30976099|PMID:34046058
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:1115	sarcoma		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:1826	epilepsy		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27916860|PMID:28327575|PMID:28492532|PMID:30976099|PMID:32581362|PMID:34046058
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1316180	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28492532|PMID:34046058
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:1909	melanoma		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:2234	focal epilepsy		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28492532|PMID:34046058
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:4362	cervical cancer		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:480	movement disease		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28327575|PMID:28492532|PMID:30976099|PMID:34046058
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:6039	uveal melanoma		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:630	genetic disease		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27916860|PMID:28492532|PMID:30976099|PMID:32581362|PMID:34077496
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9001510	Funnel Chest		ISO	RGD:1316180	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28492532|PMID:34046058
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9002189	High Myopia		ISO	RGD:1316180	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	PMID:28492532
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9004285	Paroxysmal Nocturnal Hemoglobinuria 1		ISO	RGD:1316180	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1	PMID:25741868
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9005077	Joint Instability		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28327575|PMID:28492532|PMID:30976099|PMID:34046058
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28327575|PMID:28492532|PMID:30976099|PMID:33620284|PMID:34046058
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28327575|PMID:28492532|PMID:30976099|PMID:34046058
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868|PMID:28327575|PMID:28492532|PMID:30976099|PMID:34046058
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28492532|PMID:34046058
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316180	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24906948|PMID:25741868|PMID:25943031|PMID:27916860|PMID:28492532|PMID:30976099|PMID:32581362|PMID:34046058
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9008263	Paroxysmal Nocturnal Hemoglobinuria 2		ISO	RGD:1316180	D	RGD:7240710	20140911	OMIM			
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9008263	Paroxysmal Nocturnal Hemoglobinuria 2		ISO	RGD:1316180	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2	PMID:25741868|PMID:28492532
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1307156	Pigt	phosphatidylinositol glycan anchor biosynthesis, class T	gene	DOID:9256	colorectal cancer		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:25741868|PMID:28492532
1307157	Prtg	protogenin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307157	Prtg	protogenin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307157	Prtg	protogenin	gene	DOID:12849	autistic disorder		ISO	RGD:1606409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1307157	Prtg	protogenin	gene	DOID:1324	lung cancer		ISO	RGD:1606409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307157	Prtg	protogenin	gene	DOID:1909	melanoma		ISO	RGD:1606409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307157	Prtg	protogenin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307157	Prtg	protogenin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307157	Prtg	protogenin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307157	Prtg	protogenin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307157	Prtg	protogenin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606409	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307157	Prtg	protogenin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307157	Prtg	protogenin	gene	DOID:9970	obesity		ISO	RGD:1606409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:10534	stomach cancer		ISO	RGD:1316183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:10907	microcephaly		ISO	RGD:1316183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:33259146
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:1459	hypothyroidism		ISO	RGD:1316183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:33259146
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:1826	epilepsy		ISO	RGD:1316183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:33259146
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:4362	cervical cancer		ISO	RGD:1316183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:630	genetic disease		ISO	RGD:1316183	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1316183	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:33259146
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:33259146
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307158	Ccdc186	coiled-coil domain containing 186	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1316185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1316185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1316185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:2907	Goldenhar syndrome		ISO	RGD:1316185	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:2907	Goldenhar syndrome		ISO	RGD:1316185	D	RGD:7240710	20220316	OMIM			
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:2907	Goldenhar syndrome		ISO	RGD:1316185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRANIOFACIAL MICROSOMIA 1 | ClinVar Annotator: match by term: Craniofacial microsomia 1	PMID:25741868|PMID:34344887
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316185	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1316185	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307159	Sf3b2	splicing factor 3b, subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A		ISO	RGD:1316187	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A		ISO	RGD:1316187	D	RGD:7240710	20211110	OMIM			
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A		ISO	RGD:1316187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2GG | ClinVar Annotator: match by term: Charcot-Marie-Tooth Disease, axonal, type 2GG	PMID:25741868|PMID:32937143
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:0110249	cataract 11 multiple types		ISO	RGD:10048516	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Cataract 11 multiple types	PMID:25741868|PMID:28492532
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1316187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1316187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:1909	melanoma		ISO	RGD:1316187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:3275	thymoma		ISO	RGD:1316187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316187	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307160	Gbf1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307161	Brox	BRO1 domain and CAAX motif containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307161	Brox	BRO1 domain and CAAX motif containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307161	Brox	BRO1 domain and CAAX motif containing	gene	DOID:10534	stomach cancer		ISO	RGD:1606705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307161	Brox	BRO1 domain and CAAX motif containing	gene	DOID:2394	ovarian cancer		ISO	RGD:1606705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307161	Brox	BRO1 domain and CAAX motif containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307161	Brox	BRO1 domain and CAAX motif containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307161	Brox	BRO1 domain and CAAX motif containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307161	Brox	BRO1 domain and CAAX motif containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307161	Brox	BRO1 domain and CAAX motif containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307162	Ms4a12	membrane spanning 4-domains A12	gene	DOID:1115	sarcoma		ISO	RGD:1316189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307163	Glyat	glycine-N-acyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307163	Glyat	glycine-N-acyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:1909	melanoma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316196	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316196	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19075277
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307167	Trerf1	transcriptional regulating factor 1	gene	DOID:9970	obesity		ISO	RGD:1316196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:27431290
1307168	Leprotl1	leptin receptor overlapping transcript-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1316198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307168	Leprotl1	leptin receptor overlapping transcript-like 1	gene	DOID:1612	breast cancer		ISO	RGD:1316198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1307168	Leprotl1	leptin receptor overlapping transcript-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307168	Leprotl1	leptin receptor overlapping transcript-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316198	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307168	Leprotl1	leptin receptor overlapping transcript-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307168	Leprotl1	leptin receptor overlapping transcript-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307168	Leprotl1	leptin receptor overlapping transcript-like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1316198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307169	Cdh19	cadherin 19	gene	DOID:10534	stomach cancer		ISO	RGD:1316200	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307169	Cdh19	cadherin 19	gene	DOID:1909	melanoma		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307169	Cdh19	cadherin 19	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307169	Cdh19	cadherin 19	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307169	Cdh19	cadherin 19	gene	DOID:6039	uveal melanoma		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307169	Cdh19	cadherin 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307172	Got1l1	glutamic-oxaloacetic transaminase 1-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602185	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307172	Got1l1	glutamic-oxaloacetic transaminase 1-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307172	Got1l1	glutamic-oxaloacetic transaminase 1-like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307173	Siral1	SIR2 antiphage like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307173	Siral1	SIR2 antiphage like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603013	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307173	Siral1	SIR2 antiphage like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:1316207	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome	PMID:17517255|PMID:19647838|PMID:24871971|PMID:25741868|PMID:28492532|PMID:33110422
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:0060413	chromosome 22q11.2 deletion syndrome, distal		ISO	RGD:1316207	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal	PMID:28492532
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:1316207	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2	PMID:18024538|PMID:23625987|PMID:25741868|PMID:28492532|PMID:32532878|PMID:36808083
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1316207	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1316207	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316207	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:1115	sarcoma		ISO	RGD:1316207	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:11161	neonatal respiratory failure		ISO	RGD:1316207	D	RGD:11098528|PMID:22337229	20250904	RGD		DNA:mutation:intron	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:11162	respiratory failure		ISO	RGD:1316207	D	RGD:11072505|PMID:22068586	20250904	RGD		associated with interstitial lung disease; DNA:mutations:cds (human)	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:12120	pulmonary alveolar proteinosis		ISS	RGD:1316208	D	RGD:13592920	20180518	MouseDO		OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1316207	D	RGD:11072505|PMID:22068586	20250904	RGD		associated with interstitial lung disease; DNA:mutations:cds (human)	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:12716	newborn respiratory distress syndrome	susceptibility	ISO	RGD:1316207	D	RGD:626417585|PMID:26522252	20250904	RGD		associated with premature birth;DNA:haplotype,SNP::rs17135889 (human)	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:1324	lung cancer		ISO	RGD:1316207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:1673	pneumothorax		ISO	RGD:1316207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumothorax	PMID:20656946|PMID:23166334|PMID:24033266|PMID:25741868|PMID:27516224|PMID:28492532|PMID:33708521
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:1909	melanoma		ISO	RGD:1316207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:3082	interstitial lung disease		ISO	RGD:1316207	D	RGD:11070896|PMID:15976379	20250909	RGD		DNA:mutation:cds:p.E292V(human)	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1316207	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:26780485
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316207	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316207	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:583	hemolytic anemia		ISO	RGD:1316207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:25741868
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1316207	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:26780485
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:850	lung disease		ISO	RGD:1316207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:19220077|PMID:25105258|PMID:25741868|PMID:28492532|PMID:28642621|PMID:34638622
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:850	lung disease	severity	ISO	RGD:1316207	D	RGD:11072792|PMID:24871971	20250909	RGD		DNA:mutations:multiple:	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:9000122	Pulmonary Surfactant Metabolism Dysfunction 3		ISO	RGD:1316207	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:9000122	Pulmonary Surfactant Metabolism Dysfunction 3		ISO	RGD:1316207	D	RGD:598115526|PMID:27516224	20250904	RGD			
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:9000122	Pulmonary Surfactant Metabolism Dysfunction 3		ISO	RGD:1316207	D	RGD:7240710	20150114	OMIM			
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:9000122	Pulmonary Surfactant Metabolism Dysfunction 3		ISO	RGD:1316207	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ABCA3-related condition | ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 3 | ClinVar Annotator: match by term: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies | ClinVar Annotator: match by term: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 3	PMID:15044640|PMID:15976379|PMID:16641205|PMID:16728712|PMID:17429902|PMID:17517255|PMID:17597647|PMID:17618459|PMID:18024538|PMID:18492541|PMID:18676873|PMID:19220077|PMID:19647838|PMID:20371530|PMID:20656946|PMID:21189475|PMID:22068586|PMID:22304854|PMID:22337229|PMID:22434821|PMID:22455634|PMID:22866751|PMID:22995991|PMID:23166334|PMID:23443156|PMID:23625987|PMID:24033266|PMID:24047351|PMID:24142515|PMID:24628317|PMID:24657120|PMID:24871971|PMID:25105258|PMID:25113300|PMID:25406294|PMID:25692779|PMID:25712598|PMID:25741868|PMID:26222203|PMID:26375475|PMID:26517903|PMID:26547207|PMID:26928390|PMID:27516224|PMID:27670912|PMID:28492532|PMID:28642621|PMID:28808495|PMID:29325094|PMID:31130284|PMID:31210424|PMID:31690835|PMID:32196812|PMID:32363169|PMID:32392962|PMID:32782805|PMID:32851225|PMID:33110422|PMID:33240318|PMID:33359301|PMID:33526882|PMID:33708521|PMID:35034192|PMID:35170262|PMID:35265641|PMID:35394827|PMID:36376106|PMID:36404394|PMID:36808083|PMID:37108718|PMID:37175887|PMID:39457702|PMID:41090249|PMID:7374344
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:9001026	Pulmonary Surfactant Metabolism Dysfunction 1		ISO	RGD:1316207	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1	PMID:18024538|PMID:22068586|PMID:24871971|PMID:25741868|PMID:28492532|PMID:35170262|PMID:39041931
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:9002884	Emphysema		ISO	RGD:1316207	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:26780485
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:9002884	Emphysema		ISO	RGD:1316207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Emphysema	PMID:20656946|PMID:23166334|PMID:24033266|PMID:25741868|PMID:27516224|PMID:28492532|PMID:33708521
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:9003953	Surfactant Dysfunction		ISO	RGD:1316207	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction	PMID:15044640|PMID:15976379|PMID:16728712|PMID:17517255|PMID:18492541|PMID:20371530|PMID:20656946|PMID:22068586|PMID:22304854|PMID:22434821|PMID:22455634|PMID:22866751|PMID:22995991|PMID:23166334|PMID:24033266|PMID:24871971|PMID:25113300|PMID:25741868|PMID:26928390|PMID:27516224|PMID:28492532|PMID:29255193|PMID:33708521|PMID:36808083|PMID:7374344
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:9006458	Congenital Pulmonary Lymphangiectasia		ISO	RGD:1316207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary lymphangiectasia	PMID:25741868|PMID:28492532
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1316207	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307174	Abca3	ATP binding cassette subfamily A member 3	gene	DOID:9280	carbamoyl phosphate synthetase I deficiency disease		ISO	RGD:1316207	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Carbamoyl-phosphate synthase I deficiency	PMID:24871971|PMID:25741868|PMID:28492532|PMID:31130284
1307175	Zmynd12	zinc finger, MYND-type containing 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307175	Zmynd12	zinc finger, MYND-type containing 12	gene	DOID:1324	lung cancer		ISO	RGD:1316209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307175	Zmynd12	zinc finger, MYND-type containing 12	gene	DOID:1909	melanoma		ISO	RGD:1316209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307175	Zmynd12	zinc finger, MYND-type containing 12	gene	DOID:2394	ovarian cancer		ISO	RGD:1316209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307175	Zmynd12	zinc finger, MYND-type containing 12	gene	DOID:4362	cervical cancer		ISO	RGD:1316209	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307175	Zmynd12	zinc finger, MYND-type containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307175	Zmynd12	zinc finger, MYND-type containing 12	gene	DOID:6039	uveal melanoma		ISO	RGD:1316209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307175	Zmynd12	zinc finger, MYND-type containing 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307175	Zmynd12	zinc finger, MYND-type containing 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307176	Dpt	dermatopontin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1316210	D	RGD:8554872	20170627	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	PMID:27876815
1307176	Dpt	dermatopontin	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1316210	D	RGD:617256321|PMID:34517527	20250724	RGD		mRNA:decreased expression:lung	
1307176	Dpt	dermatopontin	gene	DOID:799	varicose veins		ISO	RGD:1316210	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17643059
1307177	Jakmip3	janus kinase and microtubule interacting protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307177	Jakmip3	janus kinase and microtubule interacting protein 3	gene	DOID:3275	thymoma		ISO	RGD:1316212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307177	Jakmip3	janus kinase and microtubule interacting protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316212	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307177	Jakmip3	janus kinase and microtubule interacting protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307177	Jakmip3	janus kinase and microtubule interacting protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307177	Jakmip3	janus kinase and microtubule interacting protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307177	Jakmip3	janus kinase and microtubule interacting protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307177	Jakmip3	janus kinase and microtubule interacting protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307179	Utp23	UTP23, small subunit processome component	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1601941	D	RGD:11041896|PMID:26553438	20160401	RGD		DNA:missense mutation:cds:p.P215Q (rs16888728) (human)	
1307179	Utp23	UTP23, small subunit processome component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307179	Utp23	UTP23, small subunit processome component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307179	Utp23	UTP23, small subunit processome component	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1601941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307180	Fhl3	four and a half LIM domains 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307180	Fhl3	four and a half LIM domains 3	gene	DOID:3275	thymoma		ISO	RGD:1316216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307180	Fhl3	four and a half LIM domains 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316216	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307180	Fhl3	four and a half LIM domains 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307180	Fhl3	four and a half LIM domains 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307180	Fhl3	four and a half LIM domains 3	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1316216	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
1307181	Npas3	neuronal PAS domain protein 3	gene	DOID:1909	melanoma		ISO	RGD:1316218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307181	Npas3	neuronal PAS domain protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:1316218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307181	Npas3	neuronal PAS domain protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307181	Npas3	neuronal PAS domain protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316218	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307181	Npas3	neuronal PAS domain protein 3	gene	DOID:5419	schizophrenia		ISO	RGD:1316218	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
1307181	Npas3	neuronal PAS domain protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307181	Npas3	neuronal PAS domain protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307183	Slc35b3	solute carrier family 35 member B3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307183	Slc35b3	solute carrier family 35 member B3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307183	Slc35b3	solute carrier family 35 member B3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307183	Slc35b3	solute carrier family 35 member B3	gene	DOID:1324	lung cancer		ISO	RGD:1316221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307183	Slc35b3	solute carrier family 35 member B3	gene	DOID:3070	high grade glioma		ISO	RGD:1316221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307183	Slc35b3	solute carrier family 35 member B3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307183	Slc35b3	solute carrier family 35 member B3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307183	Slc35b3	solute carrier family 35 member B3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307183	Slc35b3	solute carrier family 35 member B3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307183	Slc35b3	solute carrier family 35 member B3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307184	Zbtb4	zinc finger and BTB domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1316223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307184	Zbtb4	zinc finger and BTB domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307184	Zbtb4	zinc finger and BTB domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307184	Zbtb4	zinc finger and BTB domain containing 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316223	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307184	Zbtb4	zinc finger and BTB domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307185	Cbarp	CACN subunit beta associated regulatory protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307185	Cbarp	CACN subunit beta associated regulatory protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316225	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307185	Cbarp	CACN subunit beta associated regulatory protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307185	Cbarp	CACN subunit beta associated regulatory protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307186	Jmjd4	jumonji domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307186	Jmjd4	jumonji domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307187	Nek9	NIMA-related kinase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307187	Nek9	NIMA-related kinase 9	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1316228	D	RGD:8554872	20211109	ClinVar		ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome	PMID:25741868
1307187	Nek9	NIMA-related kinase 9	gene	DOID:0061266	lethal congenital contracture syndrome 10		ISO	RGD:1316228	D	RGD:7240710	20190315	OMIM			
1307187	Nek9	NIMA-related kinase 9	gene	DOID:0061266	lethal congenital contracture syndrome 10		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10	PMID:16199547|PMID:25741868|PMID:26908619|PMID:28492532|PMID:29096039
1307187	Nek9	NIMA-related kinase 9	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868
1307187	Nek9	NIMA-related kinase 9	gene	DOID:10283	prostate cancer		ISO	RGD:1316228	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307187	Nek9	NIMA-related kinase 9	gene	DOID:10283	prostate cancer		ISO	RGD:1316228	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307187	Nek9	NIMA-related kinase 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:16199547|PMID:25741868|PMID:26908619|PMID:28492532|PMID:29096039
1307187	Nek9	NIMA-related kinase 9	gene	DOID:1115	sarcoma		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307187	Nek9	NIMA-related kinase 9	gene	DOID:11836	clubfoot		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
1307187	Nek9	NIMA-related kinase 9	gene	DOID:1324	lung cancer		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:16199547|PMID:25741868|PMID:26908619|PMID:28492532|PMID:29096039
1307187	Nek9	NIMA-related kinase 9	gene	DOID:1909	melanoma		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307187	Nek9	NIMA-related kinase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1316228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307187	Nek9	NIMA-related kinase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307187	Nek9	NIMA-related kinase 9	gene	DOID:630	genetic disease		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:31131953
1307187	Nek9	NIMA-related kinase 9	gene	DOID:674	cleft palate		ISO	RGD:1316228	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1307187	Nek9	NIMA-related kinase 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307187	Nek9	NIMA-related kinase 9	gene	DOID:9000197	Edema		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	PMID:25741868
1307187	Nek9	NIMA-related kinase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307187	Nek9	NIMA-related kinase 9	gene	DOID:9007185	Shprintzen-Goldberg Craniosynostosis		ISO	RGD:1316228	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome	PMID:25741868
1307187	Nek9	NIMA-related kinase 9	gene	DOID:9008794	ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY		ISO	RGD:1316228	D	RGD:7240710	20190315	OMIM			
1307187	Nek9	NIMA-related kinase 9	gene	DOID:9008794	ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY		ISO	RGD:1316228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy	PMID:25741868
1307187	Nek9	NIMA-related kinase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307187	Nek9	NIMA-related kinase 9	gene	DOID:9009038	Nevus Comedonicus		ISO	RGD:1316228	D	RGD:7240710	20190315	OMIM			
1307187	Nek9	NIMA-related kinase 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0060058	lymphoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:24033266|PMID:25741868|PMID:28492532
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:1316230	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0080855	Parkinsonism		IMP		D	RGD:2302392|PMID:18534259	20081216	RGD			
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0081144	common variable immunodeficiency 1		ISO	RGD:1316230	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency, common variable, 1	
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0081152	common variable immunodeficiency 10		ISO	RGD:1316230	D	RGD:7240710	20190327	OMIM			
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:0081152	common variable immunodeficiency 10		ISO	RGD:1316230	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Common variable immunodeficiency 10 | ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 10 | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 | ClinVar Annotator: match by term: NFKB2-related disorder	PMID:16199547|PMID:16303288|PMID:17576681|PMID:24033266|PMID:24140114|PMID:24702956|PMID:25237204|PMID:2537204|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28472507|PMID:28492532|PMID:28778864|PMID:29921932|PMID:30697212|PMID:30941118|PMID:31417880|PMID:32506361|PMID:32888943|PMID:34619682|PMID:34975878|PMID:35753512|PMID:9536098
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:28492532
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:25741868|PMID:28492532
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:12155	lymphocytic choriomeningitis	disease_progression	ISO	RGD:1316231	D	RGD:40902858|PMID:20565293	20201214	RGD			
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1316230	D	RGD:11554173	20190402	CTD		CTD Direct Evidence: marker/mechanism	
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:12177	common variable immunodeficiency		ISS	RGD:1316231	D	RGD:13592920	20230718	MouseDO			
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:12306	vitiligo		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vitiligo	PMID:25741868
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:28492532
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868|PMID:28492532
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316230	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:28492532
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1316230	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:649	prion disease		ISO	RGD:1316231	D	RGD:40902830|PMID:17573907	20201214	RGD			
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:6741	bilateral breast cancer		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: bilateral breast cancer	PMID:25741868|PMID:28492532
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:8929	atrophic gastritis		ISO	RGD:1316231	D	RGD:40902973|PMID:23975431	20201217	RGD		associated with Helicobacter Infections	
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9001455	Intestinal Helminthiasis	treatment	ISO	RGD:1316231	D	RGD:40902988|PMID:12370384	20201221	RGD			
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9002676	Cerebral Hemorrhage		IDA		D	RGD:2302394|PMID:17250675	20081216	RGD		protein:increased activity:striatum	
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9002884	Emphysema		ISO	RGD:1316230	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Emphysema	PMID:25741868
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1316230	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colonic neoplasm	PMID:25741868
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9004649	Heat Stroke		ISO	RGD:1316230	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039931
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:2298775|PMID:18633731	20081216	RGD			
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307189	Nfkb2	nuclear factor kappa B subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:28492532
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:0050952	spastic ataxia		ISO	RGD:1316232	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:0111743	cerebellar ataxia type 47		ISO	RGD:1316232	D	RGD:7240710	20250604	OMIM			
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:0111743	cerebellar ataxia type 47		ISO	RGD:1316232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PUM1-associated developmental disability-ataxia-seizure syndrome | ClinVar Annotator: match by term: PUM1-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 47 | ClinVar Annotator: match by term: Spinocerebellar ataxia 47	PMID:25741868|PMID:29474920|PMID:31859446|PMID:40472467
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316232	D	RGD:8554872	20170912	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:1909	melanoma		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:3275	thymoma		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316232	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:630	genetic disease		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1316232	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Late-onset spinocerebellar ataxia	PMID:25741868|PMID:29474920|PMID:40191983
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1316232	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: global developmental delay	
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:9008128	NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM		ISO	RGD:1316232	D	RGD:7240710	20240306	OMIM			
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:9008128	NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM	PMID:25741868|PMID:29474920|PMID:30903679|PMID:31859446|PMID:35386260
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307190	Pum1	pumilio RNA-binding family member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1316232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307191	Eif3g	eukaryotic translation initiation factor 3, subunit G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307191	Eif3g	eukaryotic translation initiation factor 3, subunit G	gene	DOID:10534	stomach cancer		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307191	Eif3g	eukaryotic translation initiation factor 3, subunit G	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307191	Eif3g	eukaryotic translation initiation factor 3, subunit G	gene	DOID:4362	cervical cancer		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307191	Eif3g	eukaryotic translation initiation factor 3, subunit G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307191	Eif3g	eukaryotic translation initiation factor 3, subunit G	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307191	Eif3g	eukaryotic translation initiation factor 3, subunit G	gene	DOID:9002925	Narcolepsy 1		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 1 narcolepsy	PMID:25669430
1307191	Eif3g	eukaryotic translation initiation factor 3, subunit G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307192	Usp16	ubiquitin specific peptidase 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307192	Usp16	ubiquitin specific peptidase 16	gene	DOID:1115	sarcoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307192	Usp16	ubiquitin specific peptidase 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307192	Usp16	ubiquitin specific peptidase 16	gene	DOID:3275	thymoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307192	Usp16	ubiquitin specific peptidase 16	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307192	Usp16	ubiquitin specific peptidase 16	gene	DOID:4362	cervical cancer		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307192	Usp16	ubiquitin specific peptidase 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307192	Usp16	ubiquitin specific peptidase 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1316236	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307192	Usp16	ubiquitin specific peptidase 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307192	Usp16	ubiquitin specific peptidase 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307193	Myo10	myosin X	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307193	Myo10	myosin X	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307193	Myo10	myosin X	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307193	Myo10	myosin X	gene	DOID:1115	sarcoma		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307193	Myo10	myosin X	gene	DOID:1324	lung cancer		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307193	Myo10	myosin X	gene	DOID:1909	melanoma		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307193	Myo10	myosin X	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307193	Myo10	myosin X	gene	DOID:2394	ovarian cancer		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307193	Myo10	myosin X	gene	DOID:3070	high grade glioma		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307193	Myo10	myosin X	gene	DOID:3275	thymoma		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307193	Myo10	myosin X	gene	DOID:4362	cervical cancer		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307193	Myo10	myosin X	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307193	Myo10	myosin X	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316238	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307193	Myo10	myosin X	gene	DOID:5041	esophageal cancer		ISO	RGD:1316238	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307193	Myo10	myosin X	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307193	Myo10	myosin X	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307193	Myo10	myosin X	gene	DOID:6039	uveal melanoma		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307193	Myo10	myosin X	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307193	Myo10	myosin X	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307193	Myo10	myosin X	gene	DOID:9003566	Mesothelioma		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307193	Myo10	myosin X	gene	DOID:9004657	Weight Gain		ISO	RGD:1316238	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1307193	Myo10	myosin X	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307193	Myo10	myosin X	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307194	Sbno2	strawberry notch homolog 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307194	Sbno2	strawberry notch homolog 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307194	Sbno2	strawberry notch homolog 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316240	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307194	Sbno2	strawberry notch homolog 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307194	Sbno2	strawberry notch homolog 2	gene	DOID:1115	sarcoma		ISO	RGD:1316240	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307194	Sbno2	strawberry notch homolog 2	gene	DOID:1324	lung cancer		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307194	Sbno2	strawberry notch homolog 2	gene	DOID:3275	thymoma		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307194	Sbno2	strawberry notch homolog 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307194	Sbno2	strawberry notch homolog 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316240	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307194	Sbno2	strawberry notch homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307194	Sbno2	strawberry notch homolog 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307194	Sbno2	strawberry notch homolog 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307194	Sbno2	strawberry notch homolog 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307194	Sbno2	strawberry notch homolog 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316242	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316242	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1316242	D	RGD:8554872	20150310	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:11832	visual epilepsy		ISO	RGD:1316242	D	RGD:11554173	20260106	CTD		CTD Direct Evidence: marker/mechanism	PMID:20943912
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316242	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:25741868
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:3275	thymoma		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316242	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:630	genetic disease		ISO	RGD:1316242	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:9004515	Left Ventricular Noncompaction 7		ISO	RGD:1316242	D	RGD:7240710	20140911	OMIM			
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:9004515	Left Ventricular Noncompaction 7		ISO	RGD:1316242	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction 7 | ClinVar Annotator: match by term: MIB1-related condition	PMID:23314057|PMID:25741868|PMID:28492532|PMID:30322850|PMID:33057194|PMID:34564127
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307195	Mib1	MIB E3 ubiquitin protein ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1316244	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness	PMID:25741868|PMID:28492532|PMID:29961571|PMID:29982980|PMID:30311386
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:0111640	autosomal recessive nonsyndromic deafness 111		ISO	RGD:1316244	D	RGD:7240710	20190315	OMIM			
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:0111640	autosomal recessive nonsyndromic deafness 111		ISO	RGD:1316244	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MPZL2-related condition	PMID:25741868|PMID:28492532|PMID:29961571|PMID:29982980|PMID:30311386|PMID:35599849
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:0111640	autosomal recessive nonsyndromic deafness 111		ISS	RGD:1550674	D	RGD:13592920	20250821	MouseDO		OMIM:618145	
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1316244	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868|PMID:28492532|PMID:29961571|PMID:29982980|PMID:30311386
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:1059	intellectual disability		ISO	RGD:1316244	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:29961571|PMID:30311386|PMID:32203226|PMID:39767564
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:1059	intellectual disability		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:29961571|PMID:30311386|PMID:32203226|PMID:35734045|PMID:37390746|PMID:38254107|PMID:39767564
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:3275	thymoma		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:630	genetic disease		ISO	RGD:1316244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:38197511
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:25741868|PMID:28492532|PMID:29961571|PMID:29982980|PMID:30311386|PMID:32203226|PMID:35734045|PMID:37390746|PMID:38254107|PMID:39767564
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1307196	Mpzl2	myelin protein zero-like 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316244	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:29961571|PMID:30311386|PMID:32203226|PMID:35734045|PMID:37390746|PMID:38254107|PMID:39767564
1307197	Zfp612	zinc finger protein 612	gene	DOID:1115	sarcoma		ISO	RGD:1316246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307197	Zfp612	zinc finger protein 612	gene	DOID:4362	cervical cancer		ISO	RGD:1316246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307197	Zfp612	zinc finger protein 612	gene	DOID:5041	esophageal cancer		ISO	RGD:1316246	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307197	Zfp612	zinc finger protein 612	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307197	Zfp612	zinc finger protein 612	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307197	Zfp612	zinc finger protein 612	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316246	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21965783
1307197	Zfp612	zinc finger protein 612	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307197	Zfp612	zinc finger protein 612	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307197	Zfp612	zinc finger protein 612	gene	DOID:9256	colorectal cancer		ISO	RGD:1316246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307198	Pbx3	PBX homeobox 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307198	Pbx3	PBX homeobox 3	gene	DOID:0111008	X-linked cone-rod dystrophy 1		ISO	RGD:1316248	D	RGD:8554872	20230523	ClinVar		ClinVar Annotator: match by term: X-LINKED ROD CONE DYSTROPHY	
1307198	Pbx3	PBX homeobox 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307198	Pbx3	PBX homeobox 3	gene	DOID:1324	lung cancer		ISO	RGD:1316248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307198	Pbx3	PBX homeobox 3	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1316248	D	RGD:153345544|PMID:32449803	20220902	RGD		RNA:increased expression:esophagus squamous epithelium (human)	
1307198	Pbx3	PBX homeobox 3	gene	DOID:4362	cervical cancer		ISO	RGD:1316248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307198	Pbx3	PBX homeobox 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316248	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307198	Pbx3	PBX homeobox 3	gene	DOID:9008565	Congenital Heart Defects, Multiple Types		ISO	RGD:1316248	D	RGD:155630639|PMID:22426282	20221026	RGD		DNA:missense mutation:CDS:pAla136Val (human)	
1307200	Ung	uracil-DNA glycosylase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316252	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17029639|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359
1307200	Ung	uracil-DNA glycosylase	gene	DOID:0060704	lymphoproliferative syndrome		ISO	RGD:1316252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoproliferative disorder	PMID:25741868
1307200	Ung	uracil-DNA glycosylase	gene	DOID:0060759	immunodeficiency with hyper IgM type 5		ISO	RGD:1316252	D	RGD:7240710	20180725	OMIM			
1307200	Ung	uracil-DNA glycosylase	gene	DOID:0060759	immunodeficiency with hyper IgM type 5		ISO	RGD:1316252	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5 | ClinVar Annotator: match by term: UNG-related condition	PMID:12958596|PMID:17029639|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359
1307200	Ung	uracil-DNA glycosylase	gene	DOID:0080544	hyper IgM syndrome		ISO	RGD:1316252	D	RGD:11554173	20200303	CTD		CTD Direct Evidence: marker/mechanism	
1307200	Ung	uracil-DNA glycosylase	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1316252	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:17029639|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359
1307200	Ung	uracil-DNA glycosylase	gene	DOID:10534	stomach cancer		ISO	RGD:1316252	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307200	Ung	uracil-DNA glycosylase	gene	DOID:11702	dysgammaglobulinemia		ISO	RGD:1316252	D	RGD:1599705|PMID:12958596	20070213	RGD		Hyper-IgM syndrome 5, OMIM:608106	
1307200	Ung	uracil-DNA glycosylase	gene	DOID:11830	myopia		ISO	RGD:1316252	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17029639|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359
1307200	Ung	uracil-DNA glycosylase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1316252	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:17029639|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359
1307200	Ung	uracil-DNA glycosylase	gene	DOID:1324	lung cancer		ISO	RGD:1316252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307200	Ung	uracil-DNA glycosylase	gene	DOID:1596	depressive disorder		ISO	RGD:1316252	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression	PMID:17029639|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359
1307200	Ung	uracil-DNA glycosylase	gene	DOID:1612	breast cancer		ISO	RGD:1316252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1307200	Ung	uracil-DNA glycosylase	gene	DOID:1909	melanoma		ISO	RGD:1316252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307200	Ung	uracil-DNA glycosylase	gene	DOID:2030	anxiety disorder		ISO	RGD:1316252	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17029639|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359
1307200	Ung	uracil-DNA glycosylase	gene	DOID:2717	Bloom syndrome		ISO	RGD:1316252	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:2106500
1307200	Ung	uracil-DNA glycosylase	gene	DOID:2841	asthma		ISO	RGD:1316252	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:17029639|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359
1307200	Ung	uracil-DNA glycosylase	gene	DOID:5041	esophageal cancer		ISO	RGD:1316252	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307200	Ung	uracil-DNA glycosylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307200	Ung	uracil-DNA glycosylase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1316252	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:17029639|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359
1307200	Ung	uracil-DNA glycosylase	gene	DOID:9004150	Lymphadenopathy		ISO	RGD:1316252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphadenopathy	PMID:25741868
1307200	Ung	uracil-DNA glycosylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307200	Ung	uracil-DNA glycosylase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1316252	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15814641
1307200	Ung	uracil-DNA glycosylase	gene	DOID:9256	colorectal cancer		ISO	RGD:1316252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:12958596|PMID:16199547|PMID:28492532
1307200	Ung	uracil-DNA glycosylase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1316252	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:17029639|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359
1307200	Ung	uracil-DNA glycosylase	gene	DOID:9970	obesity		ISO	RGD:1316252	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:17029639|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:3275	thymoma		ISO	RGD:1316254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316254	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:9003566	Mesothelioma		ISO	RGD:1316254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307201	Ska3	spindle and kinetochore associated complex subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307204	Epha2	Eph receptor A2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307204	Epha2	Eph receptor A2	gene	DOID:0110229	cataract 6 multiple types		ISO	RGD:1316258	D	RGD:7240710	20130731	OMIM			
1307204	Epha2	Eph receptor A2	gene	DOID:0110229	cataract 6 multiple types		ISO	RGD:1316258	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CATARACT 6, AGE-RELATED CORTICAL | ClinVar Annotator: match by term: CATARACT, AGE-RELATED CORTICAL, 2 | ClinVar Annotator: match by term: Cataract 6 multiple types | ClinVar Annotator: match by term: Cataract 6, multiple types | ClinVar Annotator: match by term: EPHA2-related condition	PMID:16199547|PMID:17576681|PMID:19306328|PMID:19649315|PMID:20361013|PMID:20625407|PMID:22167091|PMID:22570727|PMID:22645087|PMID:22829731|PMID:23447127|PMID:24014202|PMID:24705208|PMID:25148791|PMID:25741868|PMID:26900323|PMID:27315345|PMID:28492532|PMID:29039721|PMID:29267365|PMID:29770612|PMID:30450742|PMID:32165640|PMID:34638995|PMID:9536098
1307204	Epha2	Eph receptor A2	gene	DOID:0110229	cataract 6 multiple types		ISS	RGD:1316259	D	RGD:13592920	20230718	MouseDO		OMIM:116600	
1307204	Epha2	Eph receptor A2	gene	DOID:10534	stomach cancer		ISO	RGD:1316258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307204	Epha2	Eph receptor A2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307204	Epha2	Eph receptor A2	gene	DOID:12365	malaria		ISO	RGD:1316258	D	RGD:11554173	20251104	CTD		CTD Direct Evidence: marker/mechanism	PMID:26612952
1307204	Epha2	Eph receptor A2	gene	DOID:12978	Plasmodium vivax malaria		ISO	RGD:1316258	D	RGD:11554173	20251104	CTD		CTD Direct Evidence: marker/mechanism	PMID:36513700
1307204	Epha2	Eph receptor A2	gene	DOID:14291	Noonan syndrome with multiple lentigines		ISO	RGD:1316258	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22845314
1307204	Epha2	Eph receptor A2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316258	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21479221
1307204	Epha2	Eph receptor A2	gene	DOID:3275	thymoma		ISO	RGD:1316258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307204	Epha2	Eph receptor A2	gene	DOID:3490	Noonan syndrome		ISO	RGD:1316258	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22845314
1307204	Epha2	Eph receptor A2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307204	Epha2	Eph receptor A2	gene	DOID:4362	cervical cancer		ISO	RGD:1316258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307204	Epha2	Eph receptor A2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1307204	Epha2	Eph receptor A2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307204	Epha2	Eph receptor A2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307204	Epha2	Eph receptor A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307204	Epha2	Eph receptor A2	gene	DOID:630	genetic disease		ISO	RGD:1316258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12167657|PMID:15965161|PMID:16051609|PMID:19306328|PMID:22570727|PMID:24014202|PMID:25741868|PMID:26900323|PMID:28492532|PMID:29039721|PMID:30450742
1307204	Epha2	Eph receptor A2	gene	DOID:630	genetic disease		ISO	RGD:1316258	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19306328|PMID:22570727|PMID:24014202|PMID:25741868|PMID:26900323|PMID:28492532|PMID:29039721|PMID:30450742
1307204	Epha2	Eph receptor A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307204	Epha2	Eph receptor A2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1316258	D	RGD:153344568|PMID:33833989	20220826	RGD		protein:increased expression:esophagus (human)	
1307204	Epha2	Eph receptor A2	gene	DOID:9000918	Disease Progression		ISO	RGD:1316258	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21479221
1307204	Epha2	Eph receptor A2	gene	DOID:9004009	Reperfusion Injury		IDA		D	RGD:1580976|PMID:16735461	19990101	RGD			
1307204	Epha2	Eph receptor A2	gene	DOID:9007748	Retinal Neovascularization		IDA		D	RGD:1580975|PMID:16359662	19990101	RGD			
1307204	Epha2	Eph receptor A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307204	Epha2	Eph receptor A2	gene	DOID:9849	Meniere's disease		ISO	RGD:1316258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:28492532
1307205	Pigp	phosphatidylinositol glycan anchor biosynthesis, class P	gene	DOID:0080283	developmental and epileptic encephalopathy 55		ISO	RGD:1316260	D	RGD:7240710	20190315	OMIM			
1307205	Pigp	phosphatidylinositol glycan anchor biosynthesis, class P	gene	DOID:0080283	developmental and epileptic encephalopathy 55		ISO	RGD:1316260	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 55 | ClinVar Annotator: match by term: PIGP-related condition	PMID:25741868|PMID:28334793|PMID:28492532|PMID:31139695|PMID:32042915
1307205	Pigp	phosphatidylinositol glycan anchor biosynthesis, class P	gene	DOID:1324	lung cancer		ISO	RGD:1316260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307205	Pigp	phosphatidylinositol glycan anchor biosynthesis, class P	gene	DOID:3275	thymoma		ISO	RGD:1316260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307205	Pigp	phosphatidylinositol glycan anchor biosynthesis, class P	gene	DOID:4362	cervical cancer		ISO	RGD:1316260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307205	Pigp	phosphatidylinositol glycan anchor biosynthesis, class P	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307205	Pigp	phosphatidylinositol glycan anchor biosynthesis, class P	gene	DOID:630	genetic disease		ISO	RGD:1316260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307205	Pigp	phosphatidylinositol glycan anchor biosynthesis, class P	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316260	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
1307205	Pigp	phosphatidylinositol glycan anchor biosynthesis, class P	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307206	Ephx3	epoxide hydrolase 3	gene	DOID:1324	lung cancer		ISO	RGD:1316262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307206	Ephx3	epoxide hydrolase 3	gene	DOID:1909	melanoma		ISO	RGD:1316262	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778180
1307206	Ephx3	epoxide hydrolase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307206	Ephx3	epoxide hydrolase 3	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1316262	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
1307206	Ephx3	epoxide hydrolase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307207	Lama1	laminin subunit alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:0060260	ptosis		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
1307207	Lama1	laminin subunit alpha 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1316264	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:21664615
1307207	Lama1	laminin subunit alpha 1	gene	DOID:0081292	traumatic brain injury		ISO	RGD:1316264	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:25668593
1307207	Lama1	laminin subunit alpha 1	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1316264	D	RGD:8554872	20240618	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin deficient or partially deficient	PMID:25741868
1307207	Lama1	laminin subunit alpha 1	gene	DOID:0110873	holoprosencephaly 9		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar cyst | ClinVar Annotator: match by term: GLI2-related condition	PMID:25105227|PMID:25741868|PMID:26932191|PMID:28492532|PMID:34423300
1307207	Lama1	laminin subunit alpha 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:16199547|PMID:25105227|PMID:25741868|PMID:26932191|PMID:28492532|PMID:28726809
1307207	Lama1	laminin subunit alpha 1	gene	DOID:10485	esophageal atresia		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:25741868|PMID:28492532|PMID:36592689
1307207	Lama1	laminin subunit alpha 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307207	Lama1	laminin subunit alpha 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316264	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1307207	Lama1	laminin subunit alpha 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16199547|PMID:25105227|PMID:25741868|PMID:26932191|PMID:28492532|PMID:28726809
1307207	Lama1	laminin subunit alpha 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:36592689
1307207	Lama1	laminin subunit alpha 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1307207	Lama1	laminin subunit alpha 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307207	Lama1	laminin subunit alpha 1	gene	DOID:11111	hydronephrosis		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:1115	sarcoma		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307207	Lama1	laminin subunit alpha 1	gene	DOID:11830	myopia		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25105227|PMID:25741868|PMID:26932191|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:12849	autistic disorder		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25105227|PMID:25741868|PMID:26932191|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:1324	lung cancer		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:16199547|PMID:25105227|PMID:25741868|PMID:26932191|PMID:28492532|PMID:28726809
1307207	Lama1	laminin subunit alpha 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868|PMID:28492532|PMID:36592689
1307207	Lama1	laminin subunit alpha 1	gene	DOID:1826	epilepsy		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1307207	Lama1	laminin subunit alpha 1	gene	DOID:1909	melanoma		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
1307207	Lama1	laminin subunit alpha 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307207	Lama1	laminin subunit alpha 1	gene	DOID:4029	gastritis		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastritis	PMID:25741868
1307207	Lama1	laminin subunit alpha 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307207	Lama1	laminin subunit alpha 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307207	Lama1	laminin subunit alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316264	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:540	strabismus		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:36592689
1307207	Lama1	laminin subunit alpha 1	gene	DOID:5419	schizophrenia		ISO	RGD:1316264	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
1307207	Lama1	laminin subunit alpha 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:5679	retinal disease		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
1307207	Lama1	laminin subunit alpha 1	gene	DOID:5723	optic atrophy		ISO	RGD:1316264	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307207	Lama1	laminin subunit alpha 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:630	genetic disease		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26350204|PMID:28492532|PMID:31692161|PMID:32590954|PMID:34423300
1307207	Lama1	laminin subunit alpha 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532|PMID:34547244|PMID:36592689
1307207	Lama1	laminin subunit alpha 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9000053	Headache		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9000495	Tremor		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9002189	High Myopia		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9004751	Nausea		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nausea	PMID:25741868
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25668194|PMID:25741868|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:25105227|PMID:25741868|PMID:26932191|PMID:28492532|PMID:28726809
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9008073	PORETTI-BOLTSHAUSER SYNDROME		ISO	RGD:1316264	D	RGD:7240710	20170405	OMIM			
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9008073	PORETTI-BOLTSHAUSER SYNDROME		ISO	RGD:1316264	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LAMA1-related condition | ClinVar Annotator: match by term: PORETTI-BOLTSHAUSER SYNDROME | ClinVar Annotator: match by term: Poretti-Boltshauser syndrome | ClinVar Annotator: match by term: Poretti-boltshauser syndrome	PMID:16199547|PMID:25105227|PMID:25741868|PMID:26932191|PMID:28492532|PMID:31692161|PMID:34423300
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: global developmental delay	PMID:16199547|PMID:25105227|PMID:25741868|PMID:26932191|PMID:28492532|PMID:28726809
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1316264	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	PMID:25105227|PMID:25741868|PMID:26932191|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:36592689
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9834	hyperopia		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9840	esotropia		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:28492532
1307207	Lama1	laminin subunit alpha 1	gene	DOID:9970	obesity		ISO	RGD:1316264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
1307209	Lrrc28	leucine rich repeat containing 28	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307209	Lrrc28	leucine rich repeat containing 28	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307209	Lrrc28	leucine rich repeat containing 28	gene	DOID:4362	cervical cancer		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307209	Lrrc28	leucine rich repeat containing 28	gene	DOID:5041	esophageal cancer		ISO	RGD:1316267	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307209	Lrrc28	leucine rich repeat containing 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307209	Lrrc28	leucine rich repeat containing 28	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307209	Lrrc28	leucine rich repeat containing 28	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307209	Lrrc28	leucine rich repeat containing 28	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316267	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307209	Lrrc28	leucine rich repeat containing 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307209	Lrrc28	leucine rich repeat containing 28	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307209	Lrrc28	leucine rich repeat containing 28	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:0081470	spermatogenic failure 103		ISO	RGD:1642765	D	RGD:7240710	20260805	OMIM			
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:0081470	spermatogenic failure 103		ISO	RGD:1642765	D	RGD:8554872	20260804	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 103	
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:1909	melanoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:3275	thymoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1642765	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:9005301	Hydatidiform Mole, Recurrent, 3		ISO	RGD:1642765	D	RGD:7240710	20190612	OMIM			
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:9005301	Hydatidiform Mole, Recurrent, 3		ISO	RGD:1642765	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: HYDATIDIFORM MOLE, RECURRENT, 3 | ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 | ClinVar Annotator: match by term: MEI1-related condition	PMID:25741868|PMID:28492532|PMID:30388401
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:9009442	Oocyte/zygote/embryo maturation arrest 26		ISO	RGD:1642765	D	RGD:7240710	20260812	OMIM			
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:9009442	Oocyte/zygote/embryo maturation arrest 26		ISO	RGD:1642765	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 26	
1307210	Mei1	meiotic double-stranded break formation protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1642765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1353460	D	RGD:8554872	20150310	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:24824130
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1353460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1353460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1353460	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1353460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1353460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307211	Dcbld1	discoidin, CUB  and LCCL domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1353460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307212	Rnf44	ring finger protein 44	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307212	Rnf44	ring finger protein 44	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307212	Rnf44	ring finger protein 44	gene	DOID:10534	stomach cancer		ISO	RGD:1316271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307212	Rnf44	ring finger protein 44	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307212	Rnf44	ring finger protein 44	gene	DOID:1115	sarcoma		ISO	RGD:1316271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307212	Rnf44	ring finger protein 44	gene	DOID:1324	lung cancer		ISO	RGD:1316271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307212	Rnf44	ring finger protein 44	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307212	Rnf44	ring finger protein 44	gene	DOID:3070	high grade glioma		ISO	RGD:1316271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307212	Rnf44	ring finger protein 44	gene	DOID:3275	thymoma		ISO	RGD:1316271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307212	Rnf44	ring finger protein 44	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307212	Rnf44	ring finger protein 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307212	Rnf44	ring finger protein 44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307212	Rnf44	ring finger protein 44	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307213	Plekhj1	pleckstrin homology domain containing J1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307213	Plekhj1	pleckstrin homology domain containing J1	gene	DOID:3275	thymoma		ISO	RGD:1316273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307213	Plekhj1	pleckstrin homology domain containing J1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307214	Zfp438	zinc finger protein 438	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307214	Zfp438	zinc finger protein 438	gene	DOID:1909	melanoma		ISO	RGD:1603538	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1307214	Zfp438	zinc finger protein 438	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307214	Zfp438	zinc finger protein 438	gene	DOID:4362	cervical cancer		ISO	RGD:1603538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307214	Zfp438	zinc finger protein 438	gene	DOID:6039	uveal melanoma		ISO	RGD:1603538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307214	Zfp438	zinc finger protein 438	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307214	Zfp438	zinc finger protein 438	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307214	Zfp438	zinc finger protein 438	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307217	Adgrg7	adhesion G protein-coupled receptor G7	gene	DOID:10534	stomach cancer		ISO	RGD:1316279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307217	Adgrg7	adhesion G protein-coupled receptor G7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307217	Adgrg7	adhesion G protein-coupled receptor G7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316279	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307217	Adgrg7	adhesion G protein-coupled receptor G7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307217	Adgrg7	adhesion G protein-coupled receptor G7	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307217	Adgrg7	adhesion G protein-coupled receptor G7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307219	Pira2	paired-Ig-like receptor A2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307219	Pira2	paired-Ig-like receptor A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307219	Pira2	paired-Ig-like receptor A2	gene	DOID:850	lung disease		ISO	RGD:1317898	D	RGD:11554173	20210413	CTD		CTD Direct Evidence: marker/mechanism	PMID:21602193
1307219	Pira2	paired-Ig-like receptor A2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307219	Pira2	paired-Ig-like receptor A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1601881	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:10534	stomach cancer		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:1324	lung cancer		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:1909	melanoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:3070	high grade glioma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:4362	cervical cancer		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:5041	esophageal cancer		ISO	RGD:1601881	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307222	Cluh	CLUH binding protein of NUMT mRNA	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:0060612	abdominal obesity-metabolic syndrome 3		ISO	RGD:1316288	D	RGD:7240710	20140911	OMIM			
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:0060612	abdominal obesity-metabolic syndrome 3		ISO	RGD:1316288	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 | ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: DYRK1B-related condition | ClinVar Annotator: match by term: abdominal obesity-metabolic syndrome 3	PMID:17576681|PMID:24827035|PMID:25741868|PMID:28492532|PMID:32041611|PMID:9536098
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1316288	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:2661	myoepithelioma		ISO	RGD:1316288	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:3275	thymoma		ISO	RGD:1316288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1316288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1316288	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:630	genetic disease		ISO	RGD:1316288	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1316288	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20857490
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307223	Dyrk1b	dual specificity tyrosine phosphorylation regulated kinase 1B	gene	DOID:9351	diabetes mellitus		ISO	RGD:1316288	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Syndromic Monogenic Diabetes	PMID:25741868|PMID:28492532
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	ISO	RGD:1604194	D	RGD:152995521|PMID:27729429	20220628	RGD		protein:increased expression:colon (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1604194	D	RGD:152995444|PMID:32588907	20220622	RGD		associated with Lymphatic Metastasis;protein:increased expression:gastric tumor, lymph node (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1604194	D	RGD:152995448|PMID:26159923	20220622	RGD		protein:increased expression:gastric tumor (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:1115	sarcoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:1324	lung cancer		ISO	RGD:1604194	D	RGD:11535413|PMID:26370156	20220627	RGD		DNA:amplification: :lung (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:1324	lung cancer		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:1909	melanoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:219	colon cancer		ISO	RGD:1604194	D	RGD:152995458|PMID:24244675	20220623	RGD		protein:increased expression:colon (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:219	colon cancer		ISO	RGD:1604194	D	RGD:152995494|PMID:20226010	20220627	RGD		human cells in mouse model	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:219	colon cancer	severity	ISO	RGD:1604194	D	RGD:152995462|PMID:31932471	20220623	RGD		mRNA:increased expression:colon (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:3007	breast ductal carcinoma		ISO	RGD:1604194	D	RGD:152995469|PMID:20978191	20220623	RGD		associated with lymphatic metastasis; protein:increased expression:breast tumor, lymph node (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:3121	gallbladder cancer		ISO	RGD:1604194	D	RGD:152995522|PMID:24508317	20220628	RGD		DNA:CNV, amplification:exon (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:3275	thymoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:1604194	D	RGD:152995523|PMID:29885404	20220628	RGD		protein:increased expression:lung (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1604194	D	RGD:152995460|PMID:30119206	20220623	RGD		human cells in mouse model	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1604194	D	RGD:152995512|PMID:32642408	20220628	RGD		protein:increased expression:esophagus (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1604194	D	RGD:152995470|PMID:28132115	20220623	RGD		protein:increased expression:esophagus (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604194	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:5409	lung small cell carcinoma	severity	ISO	RGD:1604194	D	RGD:152995447|PMID:31454632	20220622	RGD		associated with Neoplasm Metastasis; protein:increased expression:lung, lymph node (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:5409	lung small cell carcinoma	severity	ISO	RGD:1604194	D	RGD:152995517|PMID:27863413	20220628	RGD		DNA:CNV, amplification:exon (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1604194	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:630	genetic disease		ISO	RGD:1604194	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1556939	D	RGD:152995524|PMID:29303510	20220628	RGD			
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1604194	D	RGD:152995471|PMID:25371154	20220623	RGD		mRNA, protein:increased expression:liver (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:8649	tongue cancer	disease_progression	ISO	RGD:1604194	D	RGD:152995520|PMID:25749387	20220628	RGD		protein:increased expression:tongue (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1604194	D	RGD:152995469|PMID:20978191	20220623	RGD		associated with breast ductal carcinoma; protein:increased expression:breast tumor, lymph node (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:9002170	Experimental Neoplasms	disease_progression	ISO	RGD:1556939	D	RGD:152995458|PMID:24244675	20220623	RGD			
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:9006618	Liver Metastasis		ISO	RGD:1556939	D	RGD:152995463|PMID:30404068	20220623	RGD			
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:9006618	Liver Metastasis	disease_progression	ISO	RGD:1604194	D	RGD:152995463|PMID:30404068	20220623	RGD		mRNA:increased expression:liver (human)	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:9009121	lung metastasis		ISO	RGD:1556939	D	RGD:152995516|PMID:29809146	20220628	RGD			
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:9009121	lung metastasis		ISO	RGD:1604194	D	RGD:152995469|PMID:20978191	20220623	RGD		human cells in mouse model	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307224	Rictor	RPTOR independent companion of MTOR, complex 2	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1604194	D	RGD:152995519|PMID:27063170	20220628	RGD		associated with Lymphatic Metastasis; protein:increased expression:colon (human)	
1307226	Tuba1c	tubulin, alpha 1C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307226	Tuba1c	tubulin, alpha 1C	gene	DOID:10534	stomach cancer		ISO	RGD:1606486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307226	Tuba1c	tubulin, alpha 1C	gene	DOID:11476	osteoporosis		ISO	RGD:1606486	D	RGD:11554173	20200310	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
1307226	Tuba1c	tubulin, alpha 1C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307226	Tuba1c	tubulin, alpha 1C	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606486	D	RGD:11554173	20170711	CTD		CTD Direct Evidence: marker/mechanism	PMID:19424620
1307226	Tuba1c	tubulin, alpha 1C	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1606486	D	RGD:11554173	20170711	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
1307226	Tuba1c	tubulin, alpha 1C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606486	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307226	Tuba1c	tubulin, alpha 1C	gene	DOID:9009347	Oocyte/Zygote/Embryo Maturation Arrest 24		ISO	RGD:1606486	D	RGD:7240710	20250625	OMIM			
1307226	Tuba1c	tubulin, alpha 1C	gene	DOID:9009347	Oocyte/Zygote/Embryo Maturation Arrest 24		ISO	RGD:1606486	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 24	
1307227	Fstl4	follistatin-like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307227	Fstl4	follistatin-like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1316293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307227	Fstl4	follistatin-like 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316293	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307227	Fstl4	follistatin-like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307227	Fstl4	follistatin-like 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316293	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307227	Fstl4	follistatin-like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307227	Fstl4	follistatin-like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307228	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307228	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1316295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307228	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307228	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:1909	melanoma		ISO	RGD:1316295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307228	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:4362	cervical cancer		ISO	RGD:1316295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307228	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316295	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307228	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307228	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307228	Raly	RALY heterogeneous nuclear ribonucleoprotein	gene	DOID:670	amphetamine abuse		ISO	RGD:1316295	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:16199547|PMID:19200523|PMID:22448264|PMID:23798057|PMID:25741868|PMID:28492532
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kartagener syndrome	PMID:24824133
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348763	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:0110602	primary ciliary dyskinesia 11		ISO	RGD:1348763	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:0110602	primary ciliary dyskinesia 11		ISO	RGD:1348763	D	RGD:7240710	20130731	OMIM			
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:0110602	primary ciliary dyskinesia 11		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 11, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 11 | ClinVar Annotator: match by term: RSPH4A-related condition	PMID:16199547|PMID:19200523|PMID:20301301|PMID:22448264|PMID:23798057|PMID:23993197|PMID:24033266|PMID:25741868|PMID:25789548|PMID:27848944|PMID:28492532|PMID:31213628|PMID:32253119|PMID:39462806
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1348763	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:19200523|PMID:20301301|PMID:23993197|PMID:25741868|PMID:28492532
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:16199547|PMID:19200523|PMID:22448264|PMID:23798057|PMID:25741868|PMID:28492532
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:3275	thymoma		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:480	movement disease		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:16199547|PMID:19200523|PMID:22448264|PMID:23798057|PMID:25741868|PMID:28492532
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:16199547|PMID:19200523|PMID:22448264|PMID:23798057|PMID:25741868|PMID:28492532
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:25741868|PMID:28492532
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:16199547|PMID:19200523|PMID:22448264|PMID:23798057|PMID:25741868|PMID:28492532
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:16199547|PMID:19200523|PMID:22448264|PMID:23798057|PMID:25741868|PMID:28492532
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:9007661	Dwarfism		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:19200523|PMID:22448264|PMID:23798057|PMID:25741868|PMID:28492532
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307229	Rsph4a	radial spoke head component 4A	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1348763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary Ciliary Dyskinesia | ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:19200523|PMID:22448264|PMID:23798057|PMID:23993197|PMID:24033266|PMID:25741868|PMID:25789548|PMID:27637300|PMID:27848944|PMID:28492532|PMID:31130284|PMID:31213628|PMID:32253119|PMID:33670432|PMID:35804324|PMID:37892347|PMID:9536098
1307230	Moap1	modulator of apoptosis 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307231	Rsbn1	round spermatid basic protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307231	Rsbn1	round spermatid basic protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307231	Rsbn1	round spermatid basic protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29982452|PMID:32518176
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1343672	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder | ClinVar Annotator: match by term: NADH:Q(1) OXIDOREDUCTASE DEFICIENCY	PMID:24033266|PMID:25741868|PMID:28492532
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29982452|PMID:32518176
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1343672	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29982452|PMID:32518176
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532|PMID:34988976
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:0112088	nuclear type mitochondrial complex I deficiency 21		ISO	RGD:1343672	D	RGD:7240710	20190315	OMIM			
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:0112088	nuclear type mitochondrial complex I deficiency 21		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 21 | ClinVar Annotator: match by term: NUBPL-related condition	PMID:16199547|PMID:17576681|PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29417091|PMID:29982452|PMID:31917109|PMID:32518176|PMID:9536098
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:1059	intellectual disability		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29982452|PMID:32518176
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:1343672	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:3070	high grade glioma		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:5041	esophageal cancer		ISO	RGD:1343672	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:6039	uveal melanoma		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29982452|PMID:32518176
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1343672	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20818383
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:8927	learning disability		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29982452|PMID:32518176
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:9000495	Tremor		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29982452|PMID:32518176
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:9000631	Hyper-Beta-Alaninemia		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyper-beta-alaninemia	PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29982452|PMID:32518176
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29982452|PMID:32518176
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29982452|PMID:32518176
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:9004866	Ataxia		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29982452|PMID:32518176
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343672	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:9006065	Arthralgia		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29982452|PMID:32518176
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1343672	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:23553477|PMID:25741868|PMID:29982452
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:9008339	Tension-Type Headache		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tension-type headache	PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29982452|PMID:32518176
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307232	Nubpl	NUBP iron-sulfur cluster assembly factor, mitochondrial	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1343672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:25741868|PMID:28492532|PMID:29982452|PMID:32518176
1307233	Aebp2	AE binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307233	Aebp2	AE binding protein 2	gene	DOID:10487	Hirschsprung's disease		ISS	RGD:1316304	D	RGD:13592920	20180518	MouseDO		OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712	
1307233	Aebp2	AE binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1316303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307233	Aebp2	AE binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307233	Aebp2	AE binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316303	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307233	Aebp2	AE binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307233	Aebp2	AE binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307233	Aebp2	AE binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307233	Aebp2	AE binding protein 2	gene	DOID:9258	Waardenburg syndrome		ISS	RGD:1316304	D	RGD:13592920	20180518	MouseDO			
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:0080600	COVID-19		ISO	RGD:1601772	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:0111192	facioscapulohumeral muscular dystrophy 1		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 1	PMID:25741868
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:0111193	facioscapulohumeral muscular dystrophy 2		ISO	RGD:1601772	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143600|PMID:28067909|PMID:28067911
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:0111193	facioscapulohumeral muscular dystrophy 2		ISO	RGD:1601772	D	RGD:7240710	20130731	OMIM			
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:0111193	facioscapulohumeral muscular dystrophy 2		ISO	RGD:1601772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC | ClinVar Annotator: match by term: FSHD2, DIGENIC | ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 | ClinVar Annotator: match by term: SMCHD1-related condition | ClinVar Annotator: match by term: Weakness of facial musculature	PMID:16199547|PMID:17576681|PMID:23143600|PMID:24075187|PMID:24755953|PMID:25214167|PMID:25256356|PMID:25370034|PMID:25640679|PMID:25741868|PMID:25782668|PMID:26467025|PMID:27061275|PMID:28067909|PMID:28067911|PMID:28492532|PMID:31243061|PMID:32721234|PMID:34008892|PMID:35121673|PMID:37674478|PMID:38544359|PMID:9536098
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1601772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1601772	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Undescended testes	PMID:25741868|PMID:28067909
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1601772	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1601772	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:25741868
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25741868|PMID:28492532
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601772	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1601772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:540	strabismus		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28067909
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9004147	Anosmia		ISO	RGD:1601772	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anosmia | ClinVar Annotator: match by term: anosmia	PMID:28067909|PMID:28492532|PMID:31312724
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1601772	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:23143600|PMID:28492532
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9006386	Scapulohumeral Muscular Dystrophy		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scapulohumeral muscular dystrophy	PMID:25741868|PMID:28492532
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9007423	Arhinia, Choanal Atresia, and Microphthalmia		ISO	RGD:1601772	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28067909|PMID:28067911
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9007423	Arhinia, Choanal Atresia, and Microphthalmia		ISO	RGD:1601772	D	RGD:7240710	20190315	OMIM			
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9007423	Arhinia, Choanal Atresia, and Microphthalmia		ISO	RGD:1601772	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia | ClinVar Annotator: match by term: BOSMA ARHINIA MICROPHTHALMIA SYNDROME	PMID:25741868|PMID:26467025|PMID:28067909|PMID:28067911|PMID:28492532
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601772	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9296	cleft lip		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868|PMID:28067909
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:936	brain disease		ISO	RGD:1601772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
1307234	Smchd1	structural maintenance of chromosomes flexible hinge domain containing 1	gene	DOID:9884	muscular dystrophy		ISO	RGD:1601772	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:10534	stomach cancer		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:1115	sarcoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:1324	lung cancer		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:1909	melanoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:3275	thymoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:4362	cervical cancer		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1316306	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307235	Relch	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307236	Lmod1	leiomodin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307236	Lmod1	leiomodin 1	gene	DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome		ISS	RGD:1316309	D	RGD:13592920	20250508	MouseDO		OMIM:155310	
1307236	Lmod1	leiomodin 1	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1316308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal pseudo-obstruction	
1307236	Lmod1	leiomodin 1	gene	DOID:289	endometriosis		ISO	RGD:1316308	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1307236	Lmod1	leiomodin 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1316308	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28530674
1307236	Lmod1	leiomodin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307236	Lmod1	leiomodin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307236	Lmod1	leiomodin 1	gene	DOID:9000807	Megaduodenum		ISO	RGD:1316308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal megacystis	PMID:28292896
1307236	Lmod1	leiomodin 1	gene	DOID:9003331	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3		ISO	RGD:1316308	D	RGD:7240710	20210616	OMIM			
1307236	Lmod1	leiomodin 1	gene	DOID:9003331	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3		ISO	RGD:1316308	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3	PMID:25741868|PMID:28292896
1307236	Lmod1	leiomodin 1	gene	DOID:9003908	Microcolon		ISO	RGD:1316308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcolon	PMID:28292896
1307236	Lmod1	leiomodin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28292896
1307237	Arhgap22	Rho GTPase activating protein 22	gene	DOID:10316	pneumoconiosis		ISO	RGD:1316310	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
1307237	Arhgap22	Rho GTPase activating protein 22	gene	DOID:10534	stomach cancer		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307237	Arhgap22	Rho GTPase activating protein 22	gene	DOID:1324	lung cancer		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307237	Arhgap22	Rho GTPase activating protein 22	gene	DOID:1909	melanoma		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307237	Arhgap22	Rho GTPase activating protein 22	gene	DOID:2843	long QT syndrome		ISO	RGD:1316310	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1307237	Arhgap22	Rho GTPase activating protein 22	gene	DOID:3275	thymoma		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307237	Arhgap22	Rho GTPase activating protein 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307237	Arhgap22	Rho GTPase activating protein 22	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307237	Arhgap22	Rho GTPase activating protein 22	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307237	Arhgap22	Rho GTPase activating protein 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307237	Arhgap22	Rho GTPase activating protein 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:0050562	West syndrome		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:10907	microcephaly		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: attention deficit hyperactivity disorder	PMID:25741868|PMID:32738225|PMID:32788587|PMID:39415096
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1316312	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:1826	epilepsy		ISO	RGD:1316312	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:1316312	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemia	
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316312	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9006331	Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities		ISO	RGD:1316312	D	RGD:7240710	20210120	OMIM			
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9006331	Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities		ISO	RGD:1316312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | ClinVar Annotator: match by term: neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	PMID:25741868|PMID:32738225|PMID:32788587
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9008961	Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities		ISO	RGD:1316312	D	RGD:7240710	20201202	OMIM			
1307238	Nars1	asparaginyl-tRNA synthetase 1	gene	DOID:9008961	Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities		ISO	RGD:1316312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NARS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities	PMID:25741868|PMID:32738225|PMID:38495304
1307239	Dhx33	DEAH-box helicase 33	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307239	Dhx33	DEAH-box helicase 33	gene	DOID:1324	lung cancer		ISO	RGD:1316314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307239	Dhx33	DEAH-box helicase 33	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307239	Dhx33	DEAH-box helicase 33	gene	DOID:4362	cervical cancer		ISO	RGD:1316314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307239	Dhx33	DEAH-box helicase 33	gene	DOID:5041	esophageal cancer		ISO	RGD:1316314	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307239	Dhx33	DEAH-box helicase 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307239	Dhx33	DEAH-box helicase 33	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307241	Tmcc3	transmembrane and coiled-coil domain family 3	gene	DOID:10534	stomach cancer		ISO	RGD:1346901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307241	Tmcc3	transmembrane and coiled-coil domain family 3	gene	DOID:2661	myoepithelioma		ISO	RGD:1346901	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1307241	Tmcc3	transmembrane and coiled-coil domain family 3	gene	DOID:3275	thymoma		ISO	RGD:1346901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307241	Tmcc3	transmembrane and coiled-coil domain family 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307241	Tmcc3	transmembrane and coiled-coil domain family 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:0080074	neural tube defect		ISO	RGD:1316320	D	RGD:9590240|PMID:17325035	20141120	RGD		DNA:missense mutations:exons:p.E568A, p.D609A (mouse)	
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1316319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:1324	lung cancer		ISO	RGD:1316319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:2043	hepatitis B	treatment	ISO	RGD:1316320	D	RGD:9590262|PMID:23913178	20141121	RGD			
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1316319	D	RGD:9590260|PMID:23543735	20180706	RGD			
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1316319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:6039	uveal melanoma		ISO	RGD:1316319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1316320	D	RGD:9590239|PMID:15932940	20141120	RGD		protein:increased expression:retina (mouse)	
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1307242	Kat2a	lysine acetyltransferase 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307244	Slc25a44	solute carrier family 25, member 44	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307244	Slc25a44	solute carrier family 25, member 44	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316326	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:1115	sarcoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:1324	lung cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316326	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18239605
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:1612	breast cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:1909	melanoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:2526	prostate adenocarcinoma	ameliorates	ISO	RGD:1316326	D	RGD:9068941	20220818	RGD		mRNA:increased expression:prostate gland (human)	PMID:31964418|REF_RGD_ID:153344516
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:3070	high grade glioma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:3275	thymoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:1316326	D	RGD:9068941	20220818	RGD		mRNA:increased expression:lung (human)	PMID:31964418|REF_RGD_ID:153344516
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:3948	adrenocortical carcinoma	exacerbates	ISO	RGD:1316326	D	RGD:9068941	20220818	RGD		mRNA:increased expression:adrenal gland (human)	PMID:31964418|REF_RGD_ID:153344516
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:4467	clear cell renal cell carcinoma	ameliorates	ISO	RGD:1316326	D	RGD:9068941	20220818	RGD		mRNA:increased expression:kidney (human)	PMID:31964418|REF_RGD_ID:153344516
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:4947	cholangiocarcinoma	ameliorates	ISO	RGD:1316326	D	RGD:9068941	20220818	RGD		mRNA:increased expression:bile duct (human)	PMID:31964418|REF_RGD_ID:153344516
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1316326	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Esophageal cancer | ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1316326	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:9003654	Testicular Germ Cell Tumor	disease_progression	ISO	RGD:1316326	D	RGD:9068941	20220818	RGD		mRNA:decreased expression:testis (human)	PMID:31964418|REF_RGD_ID:153344516
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307247	Birc6	baculoviral IAP repeat-containing 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1316326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aicardi Goutieres syndrome	PMID:17846997|PMID:20131292|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:28492532|PMID:31069529|PMID:31130681|PMID:33707687|PMID:35551623|PMID:36430958
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:21454563|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:21454563|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:10300	Raynaud disease		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Raynaud phenomenon	PMID:17846997|PMID:23592335|PMID:25604658|PMID:25741868|PMID:28492532|PMID:31130681
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:1059	intellectual disability		ISO	RGD:1316328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:21454563|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:28492532
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:1143	exotropia		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:21454563|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:11830	myopia		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:12306	vitiligo		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vitiligo	PMID:17846997|PMID:23592335|PMID:25604658|PMID:25741868|PMID:28492532|PMID:31130681
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:12849	autistic disorder		ISO	RGD:1316328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21454563|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:28492532
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:1826	epilepsy		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17846997|PMID:20131292|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:1909	melanoma		ISO	RGD:1316328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:2340	craniosynostosis		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:3070	high grade glioma		ISO	RGD:1316328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1316328	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34254728
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:5214	demyelinating polyneuropathy		ISO	RGD:1316328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Demyelinating peripheral neuropathy	PMID:17846997|PMID:21454563|PMID:24183309|PMID:25741868|PMID:28492532|PMID:31069529|PMID:31130681|PMID:33707687|PMID:35551623|PMID:36430958
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:540	strabismus		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:543	dystonia		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:630	genetic disease		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9000258	Aicardi-Goutieres Syndrome 4		ISO	RGD:1316328	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9000258	Aicardi-Goutieres Syndrome 4		ISO	RGD:1316328	D	RGD:7240710	20130425	OMIM			
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9000258	Aicardi-Goutieres Syndrome 4		ISO	RGD:1316328	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition	PMID:15870678|PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:20131292|PMID:21177858|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25274781|PMID:25500883|PMID:25604658|PMID:25741868|PMID:26182405|PMID:26467025|PMID:27943079|PMID:28492532|PMID:28600779|PMID:29239743|PMID:31130284|PMID:31130681|PMID:31529068|PMID:9536098
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9000258	Aicardi-Goutieres Syndrome 4		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AICARDI-GOUTIERES SYNDROME 4 | ClinVar Annotator: match by term: Aicardi Goutieres syndrome 4 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition	PMID:16199547|PMID:17576681|PMID:17846997|PMID:20131292|PMID:21177854|PMID:21177858|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25274781|PMID:25500883|PMID:25604658|PMID:25741868|PMID:26182405|PMID:26467025|PMID:27943079|PMID:28387595|PMID:28492532|PMID:28600779|PMID:28739201|PMID:29239743|PMID:31069529|PMID:31130284|PMID:31130681|PMID:31325311|PMID:31529068|PMID:33165593|PMID:33353557|PMID:33707687|PMID:34582790|PMID:35551623|PMID:36430958|PMID:37456470|PMID:37626525|PMID:39347527|PMID:39470906|PMID:5500883|PMID:9536098
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9001934	Neonatal Sepsis		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal sepsis	PMID:21454563|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:21454563|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:17846997|PMID:20131292|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9006065	Arthralgia		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:17846997|PMID:23592335|PMID:25604658|PMID:25741868|PMID:28492532|PMID:31130681
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:21454563|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9007661	Dwarfism		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9007722	Myoclonus		ISO	RGD:1316328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:17846997|PMID:21454563|PMID:24183309|PMID:25741868|PMID:28492532|PMID:31069529|PMID:31130681|PMID:33707687|PMID:35551623|PMID:36430958
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21454563|PMID:24183309|PMID:25274781|PMID:25604658|PMID:25741868|PMID:28492532|PMID:37626525|PMID:39470906
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316328	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307248	Rnaseh2a	ribonuclease H2, subunit A	gene	DOID:9256	colorectal cancer		ISO	RGD:1316328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307249	Clic3	CLIC family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307249	Clic3	CLIC family member 3	gene	DOID:1909	melanoma		ISO	RGD:1316330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307249	Clic3	CLIC family member 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307249	Clic3	CLIC family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307250	Hoxc10	homeo box C10	gene	DOID:9004998	Kyphoscoliosis		IEP		D	RGD:11354896|PMID:18327665	20160728	RGD		mRNA:decreased expression:verterbra	
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:0112216	developmental and epileptic encephalopathy 80		ISO	RGD:1316334	D	RGD:7240710	20191002	OMIM			
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:0112216	developmental and epileptic encephalopathy 80		ISO	RGD:1316334	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 | ClinVar Annotator: match by term: PIGB-related condition	PMID:16199547|PMID:16439621|PMID:24637312|PMID:25741868|PMID:26350204|PMID:27862862|PMID:28492532|PMID:31256876|PMID:31618753|PMID:32123317|PMID:32369273|PMID:34400385|PMID:38456468|PMID:38605122
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:1115	sarcoma		ISO	RGD:1316334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:1324	lung cancer		ISO	RGD:1316334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:1827	generalized epilepsy		ISO	RGD:1316334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:3275	thymoma		ISO	RGD:1316334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:4362	cervical cancer		ISO	RGD:1316334	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:630	genetic disease		ISO	RGD:1316334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25961944|PMID:27956632|PMID:28492532
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:31256876
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307251	Pigb	phosphatidylinositol glycan anchor biosynthesis, class B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:0080855	Parkinsonism		ISO	RGD:1316336	D	RGD:2325813|PMID:19641128	20100610	RGD			
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:0111248	cerebrocostomandibular syndrome		ISO	RGD:1316336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome	PMID:25741868
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1316336	D	RGD:1599219|PMID:8971156	20070122	RGD			
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:1749	squamous cell carcinoma	susceptibility	ISO	RGD:1316336	D	RGD:1599219|PMID:8971156	20070122	RGD			
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:1793	pancreatic cancer		ISO	RGD:1316336	D	RGD:2325804|PMID:9174057	20100610	RGD		DNA:point mutations, deletions:cds:multiple (human)	
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:1793	pancreatic cancer	no_association	ISO	RGD:1316336	D	RGD:2317157|PMID:17072959	20100610	RGD		DNA:polymorphisms: :multiple (human)	
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1316336	D	RGD:1599219|PMID:8971156	20070122	RGD			
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:4450	renal cell carcinoma	susceptibility	ISO	RGD:1316336	D	RGD:1599220|PMID:8649854	20070122	RGD			
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:9002304	Prostatic Neoplasms	susceptibility	ISO	RGD:1316336	D	RGD:1599219|PMID:8971156	20070122	RGD			
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:9004009	Reperfusion Injury		IEP		D	RGD:2325809|PMID:19773801	20100610	RGD		protein:increased expression:brain	
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:9008819	Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome		ISO	RGD:1316336	D	RGD:7240710	20231213	OMIM			
1307252	Manf	mesencephalic astrocyte-derived neurotrophic factor	gene	DOID:9008819	Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome		ISO	RGD:1316336	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME | ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome	PMID:25741868
1307253	Sav1	salvador family WW domain containing protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1316338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
1307253	Sav1	salvador family WW domain containing protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316338	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307253	Sav1	salvador family WW domain containing protein 1	gene	DOID:5353	colonic disease		ISS	RGD:1316339	D	RGD:13592920	20180518	MouseDO			
1307253	Sav1	salvador family WW domain containing protein 1	gene	DOID:684	hepatocellular carcinoma		ISS	RGD:1316339	D	RGD:13592920	20180518	MouseDO		OMIM:114550	
1307253	Sav1	salvador family WW domain containing protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:0081406	round cell sarcoma with EWSR1-non-ETS fusion		ISO	RGD:1316345	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: EWSR1-related condition	PMID:28492532
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1316345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1316345	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1316345	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16646077|PMID:26214589|PMID:27006472
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1316345	D	RGD:1598915|PMID:1522903	20061222	RGD			
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1316345	D	RGD:7240710	20150128	OMIM			
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316345	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316345	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316345	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27783944
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:9002904	Primitive Neuroectodermal Tumors		ISO	RGD:1316345	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12162413
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:1316345	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27783944
1307258	Ewsr1	EWS RNA-binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307260	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307260	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307260	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350948	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307260	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:1324	lung cancer		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307260	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307260	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:3275	thymoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307260	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307260	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307260	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1350948	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307260	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307260	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307260	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307260	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307260	Cdc42bpg	CDC42 binding protein kinase gamma	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307261	Gsdmd	gasdermin D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307261	Gsdmd	gasdermin D	gene	DOID:10534	stomach cancer		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307261	Gsdmd	gasdermin D	gene	DOID:1324	lung cancer		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307261	Gsdmd	gasdermin D	gene	DOID:1909	melanoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307261	Gsdmd	gasdermin D	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307261	Gsdmd	gasdermin D	gene	DOID:2394	ovarian cancer		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307261	Gsdmd	gasdermin D	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1316349	D	RGD:626467896|PMID:36505798	20250909	RGD		mRNA, protein:increased expression, decreased methylation:lung (human)	
1307261	Gsdmd	gasdermin D	gene	DOID:4362	cervical cancer		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307261	Gsdmd	gasdermin D	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307261	Gsdmd	gasdermin D	gene	DOID:5041	esophageal cancer		ISO	RGD:1316349	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307261	Gsdmd	gasdermin D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307261	Gsdmd	gasdermin D	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307261	Gsdmd	gasdermin D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307261	Gsdmd	gasdermin D	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307261	Gsdmd	gasdermin D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307262	Tmem242	transmembrane protein 242	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316350	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307262	Tmem242	transmembrane protein 242	gene	DOID:1115	sarcoma		ISO	RGD:1316350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307262	Tmem242	transmembrane protein 242	gene	DOID:3275	thymoma		ISO	RGD:1316350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307262	Tmem242	transmembrane protein 242	gene	DOID:4362	cervical cancer		ISO	RGD:1316350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307262	Tmem242	transmembrane protein 242	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307262	Tmem242	transmembrane protein 242	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307262	Tmem242	transmembrane protein 242	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307263	Elovl3	ELOVL fatty acid elongase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307263	Elovl3	ELOVL fatty acid elongase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316352	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307263	Elovl3	ELOVL fatty acid elongase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:10534	stomach cancer		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:1115	sarcoma		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:1324	lung cancer		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:1909	melanoma		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:3275	thymoma		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316354	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:5041	esophageal cancer		ISO	RGD:1316354	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316354	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1316354	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838195
1307264	Bltp3a	bridge-like lipid transfer protein family member 3A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307266	Pnma2	PNMA family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307266	Pnma2	PNMA family member 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307267	Naaa	N-acylethanolamine acid amidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307267	Naaa	N-acylethanolamine acid amidase	gene	DOID:10534	stomach cancer		ISO	RGD:1316359	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307267	Naaa	N-acylethanolamine acid amidase	gene	DOID:1115	sarcoma		ISO	RGD:1316359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307267	Naaa	N-acylethanolamine acid amidase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307267	Naaa	N-acylethanolamine acid amidase	gene	DOID:4362	cervical cancer		ISO	RGD:1316359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307267	Naaa	N-acylethanolamine acid amidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1316359	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307267	Naaa	N-acylethanolamine acid amidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307267	Naaa	N-acylethanolamine acid amidase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316359	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307267	Naaa	N-acylethanolamine acid amidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307267	Naaa	N-acylethanolamine acid amidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:0111696	familial adult myoclonic epilepsy 6		ISO	RGD:1607049	D	RGD:7240710	20190315	OMIM			
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:0111696	familial adult myoclonic epilepsy 6		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6	
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:10534	stomach cancer		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:1324	lung cancer		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:1909	melanoma		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:3565	meningioma		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:35101336
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:4362	cervical cancer		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:4586	familial meningioma		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial meningioma	PMID:25741868
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1607049	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29507423
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307268	Tnrc6a	trinucleotide repeat containing adaptor 6A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:10534	stomach cancer		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:1115	sarcoma		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:1324	lung cancer		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:1909	melanoma		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:4362	cervical cancer		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:5041	esophageal cancer		ISO	RGD:1316362	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316362	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307269	Eif3a	eukaryotic translation initiation factor 3, subunit A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307270	Lias	lipoic acid synthetase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307270	Lias	lipoic acid synthetase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1307270	Lias	lipoic acid synthetase	gene	DOID:10534	stomach cancer		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1307270	Lias	lipoic acid synthetase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307270	Lias	lipoic acid synthetase	gene	DOID:12849	autistic disorder		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
1307270	Lias	lipoic acid synthetase	gene	DOID:1826	epilepsy		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1307270	Lias	lipoic acid synthetase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1307270	Lias	lipoic acid synthetase	gene	DOID:2841	asthma		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307270	Lias	lipoic acid synthetase	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1316364	D	RGD:11554173	20200805	CTD		CTD Direct Evidence: therapeutic	PMID:32017981
1307270	Lias	lipoic acid synthetase	gene	DOID:4362	cervical cancer		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307270	Lias	lipoic acid synthetase	gene	DOID:480	movement disease		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1307270	Lias	lipoic acid synthetase	gene	DOID:552	pneumonia		ISO	RGD:1316364	D	RGD:11554173	20200805	CTD		CTD Direct Evidence: therapeutic	PMID:32017981
1307270	Lias	lipoic acid synthetase	gene	DOID:630	genetic disease		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:26467025|PMID:26934580|PMID:28492532|PMID:28817111|PMID:9536098
1307270	Lias	lipoic acid synthetase	gene	DOID:9000776	Hyperglycinemia, Lactic Acidosis, and Seizures		ISO	RGD:1316364	D	RGD:7240710	20140911	OMIM			
1307270	Lias	lipoic acid synthetase	gene	DOID:9000776	Hyperglycinemia, Lactic Acidosis, and Seizures		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: LIAS-related condition | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency	PMID:16199547|PMID:17576681|PMID:2152680|PMID:22152680|PMID:24334290|PMID:25741868|PMID:26108146|PMID:26467025|PMID:27923773|PMID:28492532|PMID:28817111|PMID:33562493|PMID:36680912|PMID:9536098
1307270	Lias	lipoic acid synthetase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307270	Lias	lipoic acid synthetase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1307270	Lias	lipoic acid synthetase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1307270	Lias	lipoic acid synthetase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307270	Lias	lipoic acid synthetase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1307270	Lias	lipoic acid synthetase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1307270	Lias	lipoic acid synthetase	gene	DOID:936	brain disease		ISO	RGD:1316364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532
1307271	Epc2	enhancer of polycomb 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307271	Epc2	enhancer of polycomb 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307271	Epc2	enhancer of polycomb 2	gene	DOID:1324	lung cancer		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307271	Epc2	enhancer of polycomb 2	gene	DOID:1909	melanoma		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307271	Epc2	enhancer of polycomb 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307271	Epc2	enhancer of polycomb 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307271	Epc2	enhancer of polycomb 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307271	Epc2	enhancer of polycomb 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307271	Epc2	enhancer of polycomb 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307271	Epc2	enhancer of polycomb 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1316366	D	RGD:11554173	20190409	CTD		CTD Direct Evidence: marker/mechanism	PMID:30718926
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0050561	Lennox-Gastaut syndrome		ISO	RGD:1316368	D	RGD:8554872	20181009	ClinVar		ClinVar Annotator: match by term: Lennox-Gastaut syndrome	PMID:28492532
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0050827	rheumatic heart disease		IEP		D	RGD:155882558|PMID:33179113	20230130	RGD		mRNA, protein:increases expression:mitral valve, heart (rat)	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0060058	lymphoma		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0060485	Mowat-Wilson syndrome		ISO	RGD:1316368	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15006694|PMID:17103451|PMID:17478475
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0060485	Mowat-Wilson syndrome		ISO	RGD:1316368	D	RGD:7240710	20130221	OMIM			
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0060485	Mowat-Wilson syndrome		ISO	RGD:1316368	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MOWAT-WILSON SYNDROME | ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition	PMID:11448942|PMID:11592033|PMID:11891681|PMID:12784289|PMID:15121779|PMID:15384097|PMID:16053902|PMID:16199547|PMID:16532472|PMID:16688751|PMID:17203459|PMID:17576681|PMID:17958891|PMID:18414213|PMID:19006215|PMID:19011757|PMID:19215041|PMID:19842203|PMID:2030158|PMID:20301585|PMID:20428734|PMID:23243526|PMID:23466526|PMID:23523603|PMID:23715323|PMID:24401652|PMID:24715670|PMID:25123255|PMID:25326637|PMID:25497574|PMID:25741868|PMID:25899569|PMID:25931334|PMID:26193487|PMID:26467025|PMID:26633542|PMID:26661037|PMID:26809768|PMID:27831545|PMID:27848944|PMID:28096981|PMID:28492532|PMID:28501473|PMID:29089047|PMID:29159939|PMID:29263819|PMID:29300384|PMID:29483666|PMID:30083364|PMID:31130284|PMID:31178897|PMID:33176815|PMID:33199988|PMID:34012377|PMID:34298581|PMID:35646055|PMID:36406119|PMID:36474027|PMID:39484203|PMID:39941075|PMID:9536098|PMID:9719364
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0060485	Mowat-Wilson syndrome		ISS	RGD:1316369	D	RGD:13592920	20230718	MouseDO		OMIM:235730	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1316368	D	RGD:8554872	20170718	ClinVar		ClinVar Annotator: match by term: Smith-Magenis Syndrome-like	PMID:27799067
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:31680123
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1316368	D	RGD:1599885|PMID:11279515	20070220	RGD		Mowat-Wilson syndrome, OMIM:235730	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1316368	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:1059	intellectual disability		ISO	RGD:1316368	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:15121779|PMID:16053902|PMID:17958891|PMID:18414213|PMID:19006215|PMID:19215041|PMID:19842203|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532|PMID:29300384
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:10907	microcephaly		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19006215|PMID:25741868|PMID:29300384
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:11372	megacolon		ISO	RGD:1316368	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:25741868
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:11782	astigmatism		ISO	RGD:1316368	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:18414213|PMID:25741868
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:12849	autistic disorder		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:1324	lung cancer		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1316368	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17478475
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:1826	epilepsy		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:1909	melanoma		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:2786	cerebellar disease		ISO	RGD:1316368	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29326173
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:2841	asthma		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1316368	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:420	hypertrichosis		ISO	RGD:1316368	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:15121779|PMID:16053902|PMID:19842203|PMID:25741868|PMID:28492532
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316368	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:540	strabismus		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:5602	T-cell adult acute lymphocytic leukemia		ISS	RGD:1316369	D	RGD:13592920	20240425	MouseDO			
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:576	proteinuria		IEP		D	RGD:155882534|PMID:31784544	20230126	RGD		mRNA:increased expression:glomerular podocytes (rat)	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:5844	myocardial infarction		IEP		D	RGD:155882536|PMID:24155330	20230126	RGD		protein:increased expression:heart (rat)	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1316368	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11448942|PMID:15121779|PMID:16053902|PMID:17203459|PMID:17958891|PMID:18414213|PMID:19215041|PMID:19842203|PMID:20428734|PMID:23322667|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26467025|PMID:26809768|PMID:27831545|PMID:28492532|PMID:33619735|PMID:9719364
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9000918	Disease Progression		ISO	RGD:1316368	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19839049
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316368	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9002320	Neurobehavioral Manifestations	treatment	IMP		D	RGD:155882538|PMID:34334113	20230126	RGD			
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9002554	Tachycardia		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:16053902|PMID:17958891|PMID:18414213|PMID:19215041|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9003292	Intracranial Subdural Hematoma		IEP		D	RGD:155882538|PMID:34334113	20230126	RGD		protein:increased expression:brain (rat)	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9003292	Intracranial Subdural Hematoma	treatment	IMP		D	RGD:155882538|PMID:34334113	20230126	RGD			
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9003676	Brain Hypoxia-Ischemia		IEP		D	RGD:155882534|PMID:31784544	20230126	RGD		mRNA:increased expression:glomerular podocytes (rat)	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9003676	Brain Hypoxia-Ischemia		IMP		D	RGD:155882542|PMID:34852714	20230130	RGD			
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9004327	Colpocephaly		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:25741868
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316368	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1316368	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21954225
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9004797	Fetal Nutrition Disorders		IEP		D	RGD:155882570|PMID:23977013	20230130	RGD		associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat)	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9004866	Ataxia		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9005883	Pleural Effusion		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleural effusion	PMID:16053902|PMID:17958891|PMID:18414213|PMID:19215041|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9006095	Ascites		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:16053902|PMID:17958891|PMID:18414213|PMID:19215041|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:16053902|PMID:23322667|PMID:25741868|PMID:28492532|PMID:29300384
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1316368	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9007402	Gliosis		IMP		D	RGD:155882542|PMID:34852714	20230130	RGD			
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1316368	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21954225
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9007840	Chylothorax		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chylothorax	PMID:16053902|PMID:17958891|PMID:18414213|PMID:19215041|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316368	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15121779|PMID:16053902|PMID:19006215|PMID:19842203|PMID:25741868|PMID:28492532|PMID:29300384
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9008297	Motor Disorders		ISO	RGD:1316368	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29326173
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316368	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19839049
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9009086	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1		ISO	RGD:1316368	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	PMID:25741868|PMID:28492532
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9834	hyperopia		ISO	RGD:1316368	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:15121779|PMID:16053902|PMID:19842203|PMID:25741868|PMID:28492532
1307272	Zeb2	zinc finger E-box binding homeobox 2	gene	DOID:9970	obesity		ISO	RGD:1316368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:0050715	methylmalonic aciduria and homocystinuria type cblC		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC	PMID:22922874|PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:1316370	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22922874
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:0060249	scoliosis		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy	PMID:25741868
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:10907	microcephaly		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:1115	sarcoma		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	PMID:25741868
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:1324	lung cancer		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:1826	epilepsy		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:2355	anemia		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:3275	thymoma		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316370	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316370	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:630	genetic disease		ISO	RGD:1316370	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1316370	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22922874
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:9000590	Dyspnea		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25741868
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:9000918	Disease Progression		ISO	RGD:1316370	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:9001722	Dysarthria		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:9004484	Sepsis		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sepsis	PMID:22922874|PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:9005863	Methylmalonic Aciduria and Homocystinuria, cblJ Type		ISO	RGD:1316370	D	RGD:7240710	20140911	OMIM			
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:9005863	Methylmalonic Aciduria and Homocystinuria, cblJ Type		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ABCD4-related condition | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	PMID:16199547|PMID:22922874|PMID:23141461|PMID:25234635|PMID:25741868|PMID:28492532|PMID:28572511|PMID:30651581|PMID:33729671|PMID:33845046
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316370	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1316370	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:9008675	Dyskinesias		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1307273	Abcd4	ATP binding cassette subfamily D member 4	gene	DOID:936	brain disease		ISO	RGD:1316370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532
1307274	Sdf2	stromal cell derived factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307274	Sdf2	stromal cell derived factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307274	Sdf2	stromal cell derived factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307276	Zc3h3	zinc finger CCCH type containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307276	Zc3h3	zinc finger CCCH type containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307276	Zc3h3	zinc finger CCCH type containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307276	Zc3h3	zinc finger CCCH type containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1316375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307276	Zc3h3	zinc finger CCCH type containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1316375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307276	Zc3h3	zinc finger CCCH type containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307276	Zc3h3	zinc finger CCCH type containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307276	Zc3h3	zinc finger CCCH type containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307276	Zc3h3	zinc finger CCCH type containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307276	Zc3h3	zinc finger CCCH type containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307277	Rps6ka4	ribosomal protein S6 kinase A4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307277	Rps6ka4	ribosomal protein S6 kinase A4	gene	DOID:10534	stomach cancer		ISO	RGD:1316377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307277	Rps6ka4	ribosomal protein S6 kinase A4	gene	DOID:1115	sarcoma		ISO	RGD:1316377	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307277	Rps6ka4	ribosomal protein S6 kinase A4	gene	DOID:3275	thymoma		ISO	RGD:1316377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307277	Rps6ka4	ribosomal protein S6 kinase A4	gene	DOID:4362	cervical cancer		ISO	RGD:1316377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307277	Rps6ka4	ribosomal protein S6 kinase A4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307277	Rps6ka4	ribosomal protein S6 kinase A4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307277	Rps6ka4	ribosomal protein S6 kinase A4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307277	Rps6ka4	ribosomal protein S6 kinase A4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307277	Rps6ka4	ribosomal protein S6 kinase A4	gene	DOID:9256	colorectal cancer		ISO	RGD:1316377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307278	Mier2	MIER family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307278	Mier2	MIER family member 2	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1307278	Mier2	MIER family member 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1316379	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1307278	Mier2	MIER family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307278	Mier2	MIER family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307278	Mier2	MIER family member 2	gene	DOID:3275	thymoma		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307278	Mier2	MIER family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307278	Mier2	MIER family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316379	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307278	Mier2	MIER family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307278	Mier2	MIER family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307278	Mier2	MIER family member 2	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1316379	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1307278	Mier2	MIER family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307278	Mier2	MIER family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307279	Timm21	translocase of inner mitochondrial membrane 21	gene	DOID:1909	melanoma		ISO	RGD:1351951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307279	Timm21	translocase of inner mitochondrial membrane 21	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307279	Timm21	translocase of inner mitochondrial membrane 21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307279	Timm21	translocase of inner mitochondrial membrane 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307279	Timm21	translocase of inner mitochondrial membrane 21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307280	Nkx6-2	NK6 homeobox 2	gene	DOID:0080252	spastic ataxia 8		ISO	RGD:1316381	D	RGD:7240710	20190315	OMIM			
1307280	Nkx6-2	NK6 homeobox 2	gene	DOID:0080252	spastic ataxia 8		ISO	RGD:1316381	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NKX6-2-related condition | ClinVar Annotator: match by term: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	PMID:25741868|PMID:28492532|PMID:28969374|PMID:29388673|PMID:31509304|PMID:32004679|PMID:34490615
1307280	Nkx6-2	NK6 homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1316381	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:18465152|PMID:23497566|PMID:26288984
1307281	Sacs	sacsin molecular chaperone	gene	DOID:0050942	spastic ataxia 3		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spastic ataxia	PMID:20876471|PMID:21450511|PMID:24033266|PMID:24180463
1307281	Sacs	sacsin molecular chaperone	gene	DOID:0050946	Charlevoix-Saguenay spastic ataxia		ISO	RGD:1316383	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307281	Sacs	sacsin molecular chaperone	gene	DOID:0050946	Charlevoix-Saguenay spastic ataxia		ISO	RGD:1316383	D	RGD:7240710	20130619	OMIM			
1307281	Sacs	sacsin molecular chaperone	gene	DOID:0050946	Charlevoix-Saguenay spastic ataxia		ISO	RGD:1316383	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition	PMID:10053011|PMID:10610707|PMID:10655055|PMID:11788093|PMID:12873855|PMID:14718706|PMID:14718707|PMID:14718708|PMID:15156359|PMID:15486997|PMID:15985586|PMID:16007637|PMID:16198375|PMID:16606928|PMID:16944349|PMID:16961075|PMID:17516465|PMID:17576681|PMID:18414213|PMID:18439928|PMID:18465152|PMID:18484239|PMID:18569450|PMID:18604465|PMID:19208651|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20368637|PMID:20798953|PMID:20852969|PMID:20876471|PMID:21410841|PMID:21450511|PMID:21507954|PMID:21665375|PMID:21745802|PMID:21993619|PMID:22209141|PMID:22287014|PMID:22307627|PMID:22751902|PMID:22816526|PMID:22892508|PMID:23043354|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23338241|PMID:23497566|PMID:23598833|PMID:24033266|PMID:24108619|PMID:24164681|PMID:24180463|PMID:24318559|PMID:24384335|PMID:24457356|PMID:25237835|PMID:25260547|PMID:25326637|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25819952|PMID:25887915|PMID:26010040|PMID:26068213|PMID:26288984|PMID:26302956|PMID:26366743|PMID:26410750|PMID:26467025|PMID:26530509|PMID:26539891|PMID:27133561|PMID:27142713|PMID:27217339|PMID:27288452|PMID:27391121|PMID:27433545|PMID:27871429|PMID:27965395|PMID:27980752|PMID:28251916|PMID:28362824|PMID:28454995|PMID:28491899|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:28972115|PMID:29220673|PMID:29277257|PMID:29379980|PMID:29389947|PMID:29417091|PMID:29453517|PMID:29482223|PMID:29538656|PMID:29858556|PMID:29915382|PMID:29945973|PMID:29968200|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30866998|PMID:30901567|PMID:31069529|PMID:31230722|PMID:31429931|PMID:31475473|PMID:31493945|PMID:31519934|PMID:31637422|PMID:31673878|PMID:31692161|PMID:31743419|PMID:31920494|PMID:31980526|PMID:32140197|PMID:32488064|PMID:32606552|PMID:32816195|PMID:33414805|PMID:33624863|PMID:33746006|PMID:33956305|PMID:34121011|PMID:34426522|PMID:34600502|PMID:34649874|PMID:34663476|PMID:34758253|PMID:34786481|PMID:34816117|PMID:35130357|PMID:35326432|PMID:35578252|PMID:35731353|PMID:36233161|PMID:9536098|PMID:9892370
1307281	Sacs	sacsin molecular chaperone	gene	DOID:0050946	Charlevoix-Saguenay spastic ataxia		ISO	RGD:1316383	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition	PMID:10053011|PMID:10610707|PMID:10655055|PMID:11788093|PMID:12873855|PMID:14718706|PMID:14718707|PMID:14718708|PMID:15156359|PMID:15486997|PMID:15985586|PMID:16007637|PMID:16198375|PMID:16199547|PMID:16606928|PMID:16944349|PMID:16961075|PMID:17516465|PMID:17576681|PMID:18414213|PMID:18439928|PMID:18465152|PMID:18484239|PMID:18569450|PMID:18604465|PMID:19208651|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20368637|PMID:20798953|PMID:20852969|PMID:20876471|PMID:21410841|PMID:21450511|PMID:21507954|PMID:21665375|PMID:21745802|PMID:21993619|PMID:22209141|PMID:22287014|PMID:22307627|PMID:22411849|PMID:22751902|PMID:22816526|PMID:22892508|PMID:23043354|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23338241|PMID:23497566|PMID:23598833|PMID:23785480|PMID:24030952|PMID:24033266|PMID:24108619|PMID:24123366|PMID:24164681|PMID:24180463|PMID:24318559|PMID:24384335|PMID:24418350|PMID:24457356|PMID:25237835|PMID:25260547|PMID:25326637|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25819952|PMID:25887915|PMID:26010040|PMID:26068213|PMID:26288984|PMID:26302956|PMID:26366743|PMID:26410750|PMID:26467025|PMID:26530509|PMID:26539891|PMID:26633542|PMID:27133561|PMID:27142713|PMID:27217339|PMID:27288452|PMID:27391121|PMID:27412140|PMID:27433545|PMID:27871429|PMID:27965395|PMID:27974811|PMID:27980752|PMID:28050010|PMID:28251916|PMID:28362824|PMID:28454995|PMID:28491899|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:28972115|PMID:29093530|PMID:29220673|PMID:29277257|PMID:29379980|PMID:29389947|PMID:29417091|PMID:29449188|PMID:29453517|PMID:29482223|PMID:29538656|PMID:29858556|PMID:29915382|PMID:29945973|PMID:29968200|PMID:29970176|PMID:30271475|PMID:30311378|PMID:30460542|PMID:30638817|PMID:30665703|PMID:30680480|PMID:30840144|PMID:30866998|PMID:30901567|PMID:31069529|PMID:31146700|PMID:31230722|PMID:31429931|PMID:31475473|PMID:31493945|PMID:31519934|PMID:31636600|PMID:31637422|PMID:31673878|PMID:31681433|PMID:31692161|PMID:31743419|PMID:31920494|PMID:31980526|PMID:32140197|PMID:32488064|PMID:32606552|PMID:32625235|PMID:32709422|PMID:32816195|PMID:33414805|PMID:33624863|PMID:33746006|PMID:33956305|PMID:34085946|PMID:34121011|PMID:34426522|PMID:34429451|PMID:34600502|PMID:34649874|PMID:34663476|PMID:34758253|PMID:34786481|PMID:34816117|PMID:35130357|PMID:35326432|PMID:35328054|PMID:35499206|PMID:35578252|PMID:35731353|PMID:35904974|PMID:36233161|PMID:36600740|PMID:36833258|PMID:36905089|PMID:37926714|PMID:38261029|PMID:38361118|PMID:38534332|PMID:38703036|PMID:38911600|PMID:38928084|PMID:39825153|PMID:8472930|PMID:9536098|PMID:9892370
1307281	Sacs	sacsin molecular chaperone	gene	DOID:0050946	Charlevoix-Saguenay spastic ataxia		ISO	RGD:1316383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: Charlevoix-Saguenay type spastic ataxia | ClinVar Annotator: match by term: SACS-related condition | ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE | ClinVar Annotator: match by term: Spastic ataxia Charlevoix-Saguenay type | ClinVar Annotator: match by term: Spastic ataxia of Charlevoix-Saguenay | ClinVar Annotator: match by term: Spastic ataxia, Charlevoix-Saguenay type	PMID:10655055|PMID:11788093|PMID:12873855|PMID:14718707|PMID:15156359|PMID:15486997|PMID:16007637|PMID:16198375|PMID:16199547|PMID:16944349|PMID:16961075|PMID:17516465|PMID:18414213|PMID:18439928|PMID:18465152|PMID:18484239|PMID:18569450|PMID:18604465|PMID:19208651|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20368637|PMID:20798953|PMID:20852969|PMID:20876471|PMID:21410841|PMID:21450511|PMID:21507954|PMID:21665375|PMID:21745802|PMID:21993619|PMID:22287014|PMID:22307627|PMID:22751902|PMID:22805644|PMID:22816526|PMID:22892508|PMID:23043354|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23338241|PMID:23497566|PMID:23598833|PMID:23785480|PMID:24030952|PMID:24033266|PMID:24108619|PMID:24164681|PMID:24180463|PMID:24318559|PMID:24384335|PMID:24418350|PMID:24457356|PMID:25237835|PMID:25260547|PMID:25326637|PMID:25401298|PMID:25497598|PMID:25741868|PMID:26010040|PMID:26068213|PMID:26288984|PMID:26366743|PMID:26410750|PMID:26467025|PMID:26530509|PMID:26539891|PMID:27133561|PMID:27142713|PMID:27288452|PMID:27600236|PMID:27871429|PMID:27965395|PMID:27980752|PMID:28251916|PMID:28362824|PMID:28454995|PMID:28491899|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:28972115|PMID:29093530|PMID:29277257|PMID:29379980|PMID:29389947|PMID:29417091|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29858556|PMID:29915382|PMID:29945973|PMID:29968200|PMID:29970176|PMID:30144656|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30840144|PMID:30866998|PMID:30901567|PMID:31069529|PMID:31130284|PMID:31230722|PMID:31429931|PMID:31475473|PMID:31493945|PMID:31519934|PMID:31637422|PMID:31692161|PMID:31741144|PMID:31743419|PMID:31920494|PMID:31980526|PMID:32140197|PMID:32488064|PMID:32606552|PMID:32709422|PMID:32775015|PMID:32816195|PMID:32961396|PMID:32991389|PMID:33414805|PMID:33559790|PMID:33624863|PMID:33746006|PMID:33956305|PMID:34121011|PMID:34420199|PMID:34426522|PMID:34429451|PMID:34600502|PMID:34649874|PMID:34663476|PMID:34816117|PMID:34983064|PMID:35008978|PMID:35130357|PMID:35326432|PMID:35328054|PMID:35499206|PMID:35578252|PMID:35731353|PMID:35982159|PMID:35982160|PMID:36233161|PMID:36458808|PMID:36905089|PMID:36964972|PMID:37365282|PMID:37510308|PMID:38261029|PMID:38361118|PMID:38703036|PMID:38911600|PMID:38928084|PMID:38977326|PMID:39039281|PMID:39314081|PMID:40243517|PMID:8472930|PMID:9892370
1307281	Sacs	sacsin molecular chaperone	gene	DOID:0050946	Charlevoix-Saguenay spastic ataxia		ISS	RGD:1316384	D	RGD:13592920	20230718	MouseDO		OMIM:270550	
1307281	Sacs	sacsin molecular chaperone	gene	DOID:0050952	spastic ataxia		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:0060249	scoliosis		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:18465152|PMID:20876471|PMID:25741868|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:18465152|PMID:20876471|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:1059	intellectual disability		ISO	RGD:1316383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:11111	hydronephrosis		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:1115	sarcoma		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307281	Sacs	sacsin molecular chaperone	gene	DOID:12215	oligohydramnios		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:18465152|PMID:20876471|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:12849	autistic disorder		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:18465152|PMID:19779133|PMID:20876471|PMID:25741868|PMID:26467025|PMID:26539891|PMID:27980752|PMID:28492532|PMID:34429451|PMID:34600502
1307281	Sacs	sacsin molecular chaperone	gene	DOID:1324	lung cancer		ISO	RGD:1316383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:19779133|PMID:23280630|PMID:23497566|PMID:25401298|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29482223|PMID:29970176|PMID:35328054
1307281	Sacs	sacsin molecular chaperone	gene	DOID:1826	epilepsy		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18465152|PMID:23497566|PMID:26288984
1307281	Sacs	sacsin molecular chaperone	gene	DOID:1969	cerebral palsy		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:2234	focal epilepsy		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:18465152|PMID:23497566|PMID:26288984
1307281	Sacs	sacsin molecular chaperone	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316383	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27433545|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30680480|PMID:31637422|PMID:31673878|PMID:33624863
1307281	Sacs	sacsin molecular chaperone	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316383	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27433545|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863
1307281	Sacs	sacsin molecular chaperone	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316383	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863
1307281	Sacs	sacsin molecular chaperone	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316383	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863|PMID:34600502
1307281	Sacs	sacsin molecular chaperone	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316383	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863|PMID:34600502|PMID:36233161
1307281	Sacs	sacsin molecular chaperone	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316383	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21450511|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27965395|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863|PMID:34426522|PMID:34600502|PMID:34786481|PMID:36233161
1307281	Sacs	sacsin molecular chaperone	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316383	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21450511|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:22411849|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24123366|PMID:24418350|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27412140|PMID:27433545|PMID:27871429|PMID:27965395|PMID:27974811|PMID:27980752|PMID:28050010|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:29970176|PMID:30271475|PMID:30311378|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30901567|PMID:31146700|PMID:31519934|PMID:31636600|PMID:31637422|PMID:31673878|PMID:31681433|PMID:31692161|PMID:32625235|PMID:33624863|PMID:34085946|PMID:34426522|PMID:34429451|PMID:34600502|PMID:34786481|PMID:35328054|PMID:36233161|PMID:37926714|PMID:38534332|PMID:8472930
1307281	Sacs	sacsin molecular chaperone	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316383	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21450511|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:22411849|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24123366|PMID:24418350|PMID:24457356|PMID:25326637|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27412140|PMID:27433545|PMID:27871429|PMID:27965395|PMID:27974811|PMID:27980752|PMID:28050010|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:29970176|PMID:30271475|PMID:30311378|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30901567|PMID:31146700|PMID:31519934|PMID:31636600|PMID:31637422|PMID:31673878|PMID:31681433|PMID:31692161|PMID:32625235|PMID:33624863|PMID:34085946|PMID:34426522|PMID:34429451|PMID:34600502|PMID:34786481|PMID:35328054|PMID:36233161|PMID:37926714|PMID:38534332|PMID:39825153|PMID:8472930
1307281	Sacs	sacsin molecular chaperone	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:15156359|PMID:18465152|PMID:19779133|PMID:20876471|PMID:21450511|PMID:21507954|PMID:23280630|PMID:23497566|PMID:24457356|PMID:25326637|PMID:25401298|PMID:25497598|PMID:25741868|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27412140|PMID:27433545|PMID:27980752|PMID:28251916|PMID:28492532|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29970176|PMID:30311378|PMID:34426522|PMID:34429451|PMID:34600502|PMID:34786481|PMID:35008978|PMID:35328054
1307281	Sacs	sacsin molecular chaperone	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:15156359|PMID:18465152|PMID:19779133|PMID:20876471|PMID:21507954|PMID:23280630|PMID:23497566|PMID:24457356|PMID:25326637|PMID:25401298|PMID:25497598|PMID:25741868|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27980752|PMID:28251916|PMID:28492532|PMID:29449188|PMID:29482223|PMID:29970176|PMID:34429451|PMID:34600502|PMID:35328054
1307281	Sacs	sacsin molecular chaperone	gene	DOID:2661	myoepithelioma		ISO	RGD:1316383	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1307281	Sacs	sacsin molecular chaperone	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307281	Sacs	sacsin molecular chaperone	gene	DOID:4362	cervical cancer		ISO	RGD:1316383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:19779133|PMID:23280630|PMID:23497566|PMID:25401298|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29482223|PMID:29970176|PMID:35328054
1307281	Sacs	sacsin molecular chaperone	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:19779133|PMID:23280630|PMID:23497566|PMID:25401298|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29482223|PMID:29970176|PMID:35328054
1307281	Sacs	sacsin molecular chaperone	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:19779133|PMID:23280630|PMID:23497566|PMID:25401298|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29482223|PMID:29970176|PMID:35328054
1307281	Sacs	sacsin molecular chaperone	gene	DOID:5041	esophageal cancer		ISO	RGD:1316383	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307281	Sacs	sacsin molecular chaperone	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307281	Sacs	sacsin molecular chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:19779133|PMID:23280630|PMID:23497566|PMID:25401298|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29482223|PMID:29970176|PMID:35328054
1307281	Sacs	sacsin molecular chaperone	gene	DOID:607	paraplegia		ISO	RGD:1316383	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:10655055|PMID:11788093|PMID:14718707|PMID:15156359|PMID:15486997|PMID:16199547|PMID:16944349|PMID:17290461|PMID:18465152|PMID:18569450|PMID:19763152|PMID:19779133|PMID:19892370|PMID:20307669|PMID:20876471|PMID:21416271|PMID:21450511|PMID:21507954|PMID:21745802|PMID:22406018|PMID:22816526|PMID:23250129|PMID:23280630|PMID:23497566|PMID:23785480|PMID:24164681|PMID:24457356|PMID:25326637|PMID:25401298|PMID:25497598|PMID:25741868|PMID:26010040|PMID:26288984|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27412140|PMID:27433545|PMID:27600236|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28330790|PMID:28492532|PMID:29277257|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:29970176|PMID:30311378|PMID:30460542|PMID:30638817|PMID:31230722|PMID:31429931|PMID:31692161|PMID:31743419|PMID:32581362|PMID:33624863|PMID:34234304|PMID:34426522|PMID:34429451|PMID:34600502|PMID:34786481|PMID:35008978|PMID:35328054|PMID:37541188|PMID:38132465|PMID:39314081
1307281	Sacs	sacsin molecular chaperone	gene	DOID:607	paraplegia		ISO	RGD:1316383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:10655055|PMID:11788093|PMID:14718707|PMID:15156359|PMID:15486997|PMID:16199547|PMID:16944349|PMID:17290461|PMID:18465152|PMID:19763152|PMID:19779133|PMID:19892370|PMID:20307669|PMID:20876471|PMID:21416271|PMID:21507954|PMID:21745802|PMID:22406018|PMID:22816526|PMID:23250129|PMID:23280630|PMID:23497566|PMID:23785480|PMID:24164681|PMID:24457356|PMID:25326637|PMID:25497598|PMID:25741868|PMID:26288984|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27600236|PMID:27871429|PMID:27974811|PMID:27980752|PMID:28251916|PMID:28330790|PMID:28492532|PMID:29220673|PMID:29277257|PMID:29449188|PMID:29538656|PMID:29915382|PMID:30460542|PMID:30638817|PMID:31230722|PMID:31429931|PMID:31692161|PMID:32581362|PMID:34234304|PMID:34429451|PMID:34600502|PMID:35328054|PMID:37541188|PMID:38132465|PMID:39314081
1307281	Sacs	sacsin molecular chaperone	gene	DOID:607	paraplegia		ISO	RGD:1316383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Paraplegia | ClinVar Annotator: match by term: Spastic paraplegia	PMID:10655055|PMID:11788093|PMID:14718707|PMID:15156359|PMID:15486997|PMID:16199547|PMID:16944349|PMID:17290461|PMID:18465152|PMID:18569450|PMID:19763152|PMID:19779133|PMID:19892370|PMID:20307669|PMID:20876471|PMID:21416271|PMID:21450511|PMID:21507954|PMID:21745802|PMID:22406018|PMID:22816526|PMID:23250129|PMID:23280630|PMID:23497566|PMID:23785480|PMID:24164681|PMID:24457356|PMID:25326637|PMID:25401298|PMID:25497598|PMID:25741868|PMID:26010040|PMID:26288984|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27600236|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28330790|PMID:28492532|PMID:29277257|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:29970176|PMID:30144656|PMID:30460542|PMID:30638817|PMID:31230722|PMID:31429931|PMID:31692161|PMID:31743419|PMID:32581362|PMID:33624863|PMID:34234304|PMID:34429451|PMID:34600502|PMID:35328054|PMID:37541188|PMID:38132465|PMID:39314081
1307281	Sacs	sacsin molecular chaperone	gene	DOID:630	genetic disease		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18465152|PMID:20876471|PMID:23280630|PMID:23497566|PMID:25741868|PMID:26288984|PMID:26467025|PMID:27288452|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1316383	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25401298
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:19779133|PMID:25741868|PMID:26467025|PMID:26539891|PMID:27980752|PMID:28492532|PMID:34429451|PMID:34600502
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9000495	Tremor		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:18465152|PMID:23497566|PMID:26288984
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9000727	Syncope		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:19779133|PMID:25741868|PMID:26467025|PMID:26539891|PMID:27980752|PMID:28492532|PMID:34429451|PMID:34600502
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9001581	Constipation		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9001722	Dysarthria		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9001733	Tinnitus		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:19779133|PMID:25741868|PMID:26467025|PMID:26539891|PMID:27980752|PMID:28492532|PMID:34429451|PMID:34600502
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:18465152|PMID:20876471|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9002720	Splenomegaly		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:18465152|PMID:20876471|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:19779133|PMID:25741868|PMID:26467025|PMID:26539891|PMID:27980752|PMID:28492532|PMID:34429451|PMID:34600502
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9003133	Hypertelorism		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:18465152|PMID:20876471|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9003539	Hyperacusis		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:19779133|PMID:25741868|PMID:26467025|PMID:26539891|PMID:27980752|PMID:28492532|PMID:34429451|PMID:34600502
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:18465152|PMID:23497566|PMID:26288984
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9004866	Ataxia		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9005077	Joint Instability		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:19779133|PMID:25741868|PMID:26467025|PMID:26539891|PMID:27980752|PMID:28492532|PMID:34429451|PMID:34600502
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:18465152|PMID:20876471|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:18465152|PMID:20876471|PMID:23497566|PMID:25741868|PMID:26288984|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:18465152|PMID:23497566|PMID:26288984
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9007661	Dwarfism		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:18465152|PMID:20876471|PMID:28492532
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9007736	Vertigo		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:19779133|PMID:25741868|PMID:26467025|PMID:26539891|PMID:27980752|PMID:28492532|PMID:34429451|PMID:34600502
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18465152|PMID:23497566|PMID:25741868|PMID:26288984
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:19779133|PMID:23280630|PMID:23497566|PMID:25401298|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29482223|PMID:29970176|PMID:35328054
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9009163	ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION		ISO	RGD:1316383	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation	PMID:15156359|PMID:21507954|PMID:25741868|PMID:28492532|PMID:30460542|PMID:31692161
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:19779133|PMID:23280630|PMID:23497566|PMID:25401298|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29482223|PMID:29970176|PMID:35328054
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9256	colorectal cancer		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:20488193|PMID:23280630
1307281	Sacs	sacsin molecular chaperone	gene	DOID:9840	esotropia		ISO	RGD:1316383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:18465152|PMID:20876471|PMID:28492532
1307282	Brd4	bromodomain containing 4	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1316385	D	RGD:9586353|PMID:23759512	20140929	RGD			
1307282	Brd4	bromodomain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307282	Brd4	bromodomain containing 4	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1316385	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868|PMID:35887114
1307282	Brd4	bromodomain containing 4	gene	DOID:0050902	medulloblastoma		ISO	RGD:1316385	D	RGD:11554173	20210601	CTD		CTD Direct Evidence: marker/mechanism	PMID:24231268|PMID:31594641
1307282	Brd4	bromodomain containing 4	gene	DOID:0060970	Cornelia de Lange syndrome 6		ISO	RGD:1316385	D	RGD:7240710	20231220	OMIM			
1307282	Brd4	bromodomain containing 4	gene	DOID:0060970	Cornelia de Lange syndrome 6		ISO	RGD:1316385	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRD4-related condition | ClinVar Annotator: match by term: CORNELIA DE LANGE SYNDROME 6 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 6	PMID:25741868|PMID:28492532|PMID:29379197|PMID:35470444
1307282	Brd4	bromodomain containing 4	gene	DOID:0070053	autosomal dominant intellectual developmental disorder 23		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cornelia De Lange-like Syndrome | ClinVar Annotator: match by term: Cornelia de Lange-like syndrome	PMID:25741868
1307282	Brd4	bromodomain containing 4	gene	DOID:0080505	Cornelia de Lange syndrome 1		ISO	RGD:1316385	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cornelia de Lange syndrome 1	PMID:25741868
1307282	Brd4	bromodomain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307282	Brd4	bromodomain containing 4	gene	DOID:1059	intellectual disability		ISO	RGD:1316385	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1307282	Brd4	bromodomain containing 4	gene	DOID:11383	cryptorchidism		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:19828451
1307282	Brd4	bromodomain containing 4	gene	DOID:11725	Cornelia de Lange syndrome		ISO	RGD:1316385	D	RGD:11554173	20180410	CTD		CTD Direct Evidence: marker/mechanism	PMID:29379197
1307282	Brd4	bromodomain containing 4	gene	DOID:11725	Cornelia de Lange syndrome		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: De Lange syndrome	PMID:25741868|PMID:34035299
1307282	Brd4	bromodomain containing 4	gene	DOID:12679	nephrocalcinosis		ISS	RGD:1316386	D	RGD:13592920	20211028	MouseDO			
1307282	Brd4	bromodomain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307282	Brd4	bromodomain containing 4	gene	DOID:150	disease of mental health		ISO	RGD:1316385	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Mental disorder	PMID:25741868|PMID:35470444
1307282	Brd4	bromodomain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307282	Brd4	bromodomain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1316385	D	RGD:9586346|PMID:23950209	20140929	RGD		protein:mRNA:skin:	
1307282	Brd4	bromodomain containing 4	gene	DOID:219	colon cancer		ISO	RGD:1316385	D	RGD:9586351|PMID:22120039	20140929	RGD			
1307282	Brd4	bromodomain containing 4	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1316385	D	RGD:9586352|PMID:25120803	20140929	RGD		mRNA,protein:increased expression:bladder:	
1307282	Brd4	bromodomain containing 4	gene	DOID:3068	glioblastoma		ISO	RGD:1316385	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26455392|PMID:27388964
1307282	Brd4	bromodomain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307282	Brd4	bromodomain containing 4	gene	DOID:3347	osteosarcoma		ISO	RGD:1316385	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24646477
1307282	Brd4	bromodomain containing 4	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:1316386	D	RGD:9586353|PMID:23759512	20140929	RGD			
1307282	Brd4	bromodomain containing 4	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1316385	D	RGD:11085509|PMID:26707881	20181115	RGD		mRNA, protein:increased expression:thyroid	
1307282	Brd4	bromodomain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307282	Brd4	bromodomain containing 4	gene	DOID:5240	retinal hemangioblastoma		ISO	RGD:1316385	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal capillary hemangioma	PMID:25741868
1307282	Brd4	bromodomain containing 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307282	Brd4	bromodomain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307282	Brd4	bromodomain containing 4	gene	DOID:630	genetic disease		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307282	Brd4	bromodomain containing 4	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1316385	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:26224795
1307282	Brd4	bromodomain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307282	Brd4	bromodomain containing 4	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1316385	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25877301
1307282	Brd4	bromodomain containing 4	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1316385	D	RGD:9586346|PMID:23950209	20140929	RGD			
1307282	Brd4	bromodomain containing 4	gene	DOID:9002221	Hyperplasia		ISO	RGD:1316385	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25242322
1307282	Brd4	bromodomain containing 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316385	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
1307282	Brd4	bromodomain containing 4	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1316385	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26752646
1307282	Brd4	bromodomain containing 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316385	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1307282	Brd4	bromodomain containing 4	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1316385	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26707881
1307282	Brd4	bromodomain containing 4	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1316386	D	RGD:9586348|PMID:23939492	20140929	RGD		protein:increased expression:heart:	
1307282	Brd4	bromodomain containing 4	gene	DOID:9006945	Diabetic Cardiomyopathies		IEP		D	RGD:597830144|PMID:30483785	20250306	RGD		mRNA,protein:increased expression:heart	
1307282	Brd4	bromodomain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307282	Brd4	bromodomain containing 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1316385	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1307282	Brd4	bromodomain containing 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1316385	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1307282	Brd4	bromodomain containing 4	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1316386	D	RGD:155883171|PMID:33982231	20230206	RGD		mRNA,protein:increased expression:heart	
1307282	Brd4	bromodomain containing 4	gene	DOID:9008582	Developmental Disease		ISO	RGD:1316385	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1307282	Brd4	bromodomain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307282	Brd4	bromodomain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307282	Brd4	bromodomain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316386	D	RGD:9586350|PMID:21814200	20140929	RGD			
1307282	Brd4	bromodomain containing 4	gene	DOID:987	alopecia		ISO	RGD:1316385	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25242322
1307283	Aim2	absent in melanoma 2	gene	DOID:1324	lung cancer		ISO	RGD:1316387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307283	Aim2	absent in melanoma 2	gene	DOID:1612	breast cancer		ISO	RGD:1316387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868|PMID:28492532
1307283	Aim2	absent in melanoma 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307283	Aim2	absent in melanoma 2	gene	DOID:2377	multiple sclerosis		ISO	RGD:1316387	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
1307283	Aim2	absent in melanoma 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307283	Aim2	absent in melanoma 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307283	Aim2	absent in melanoma 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316387	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532
1307283	Aim2	absent in melanoma 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307283	Aim2	absent in melanoma 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:14398833|PMID:27798271	20190503	RGD			
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349205	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307284	Wnk2	WNK lysine deficient protein kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307285	Ciao1	cytosolic iron-sulfur assembly component 1	gene	DOID:0070737	multiple mitochondrial dysfunctions syndrome 10		ISO	RGD:1354495	D	RGD:7240710	20241009	OMIM			
1307285	Ciao1	cytosolic iron-sulfur assembly component 1	gene	DOID:0070737	multiple mitochondrial dysfunctions syndrome 10		ISO	RGD:1354495	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 10 | ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 10	PMID:25741868
1307285	Ciao1	cytosolic iron-sulfur assembly component 1	gene	DOID:3070	high grade glioma		ISO	RGD:1354495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307285	Ciao1	cytosolic iron-sulfur assembly component 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307285	Ciao1	cytosolic iron-sulfur assembly component 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307285	Ciao1	cytosolic iron-sulfur assembly component 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354495	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307285	Ciao1	cytosolic iron-sulfur assembly component 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1354495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307285	Ciao1	cytosolic iron-sulfur assembly component 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307285	Ciao1	cytosolic iron-sulfur assembly component 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1354495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307285	Ciao1	cytosolic iron-sulfur assembly component 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354495	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:26267327|PMID:26467025|PMID:28492532|PMID:33051659|PMID:33219105
1307286	Rrp1	ribosomal RNA processing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307286	Rrp1	ribosomal RNA processing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307286	Rrp1	ribosomal RNA processing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307286	Rrp1	ribosomal RNA processing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307286	Rrp1	ribosomal RNA processing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307286	Rrp1	ribosomal RNA processing 1	gene	DOID:3275	thymoma		ISO	RGD:1605116	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307286	Rrp1	ribosomal RNA processing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307286	Rrp1	ribosomal RNA processing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605116	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307286	Rrp1	ribosomal RNA processing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307286	Rrp1	ribosomal RNA processing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307286	Rrp1	ribosomal RNA processing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307286	Rrp1	ribosomal RNA processing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307286	Rrp1	ribosomal RNA processing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307286	Rrp1	ribosomal RNA processing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307287	Sh2d3c	SH2 domain containing 3C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307287	Sh2d3c	SH2 domain containing 3C	gene	DOID:10534	stomach cancer		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307287	Sh2d3c	SH2 domain containing 3C	gene	DOID:1909	melanoma		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307287	Sh2d3c	SH2 domain containing 3C	gene	DOID:3275	thymoma		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307287	Sh2d3c	SH2 domain containing 3C	gene	DOID:5041	esophageal cancer		ISO	RGD:1316391	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307287	Sh2d3c	SH2 domain containing 3C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307287	Sh2d3c	SH2 domain containing 3C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307288	Prr29	proline rich 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307289	Pigx	phosphatidylinositol glycan anchor biosynthesis, class X	gene	DOID:1909	melanoma		ISO	RGD:1343989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307289	Pigx	phosphatidylinositol glycan anchor biosynthesis, class X	gene	DOID:2394	ovarian cancer		ISO	RGD:1343989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307289	Pigx	phosphatidylinositol glycan anchor biosynthesis, class X	gene	DOID:3275	thymoma		ISO	RGD:1343989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307289	Pigx	phosphatidylinositol glycan anchor biosynthesis, class X	gene	DOID:5041	esophageal cancer		ISO	RGD:1343989	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307289	Pigx	phosphatidylinositol glycan anchor biosynthesis, class X	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307289	Pigx	phosphatidylinositol glycan anchor biosynthesis, class X	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307289	Pigx	phosphatidylinositol glycan anchor biosynthesis, class X	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307291	Gcat	glycine C-acetyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1316396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307291	Gcat	glycine C-acetyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307291	Gcat	glycine C-acetyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1316396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307291	Gcat	glycine C-acetyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307291	Gcat	glycine C-acetyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1316396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307291	Gcat	glycine C-acetyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307291	Gcat	glycine C-acetyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307291	Gcat	glycine C-acetyltransferase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316396	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307291	Gcat	glycine C-acetyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307291	Gcat	glycine C-acetyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307292	Slc41a2	solute carrier family 41 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307292	Slc41a2	solute carrier family 41 member 2	gene	DOID:1115	sarcoma		ISO	RGD:1316398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307292	Slc41a2	solute carrier family 41 member 2	gene	DOID:3275	thymoma		ISO	RGD:1316398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307292	Slc41a2	solute carrier family 41 member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307292	Slc41a2	solute carrier family 41 member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307292	Slc41a2	solute carrier family 41 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307292	Slc41a2	solute carrier family 41 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307292	Slc41a2	solute carrier family 41 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:10591	pre-eclampsia		ISO	RGD:1316400	D	RGD:2289846|PMID:17845206	20080214	RGD		protein:increased expression:decidua	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:1115	sarcoma		ISO	RGD:1316400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:1612	breast cancer		ISO	RGD:1316400	D	RGD:2289857|PMID:12160478	20080214	RGD		DNA:amplification	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1316400	D	RGD:2289854|PMID:15164121	20080214	RGD		protein:increased expression:ovary	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:2870	endometrial adenocarcinoma		ISO	RGD:1316400	D	RGD:2289850|PMID:16112719	20080214	RGD		protein:increased expression:endometrium	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:289	endometriosis		ISO	RGD:1316400	D	RGD:2289850|PMID:16112719	20080214	RGD		protein:decreased expression:endometrium	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:3007	breast ductal carcinoma	severity	ISO	RGD:1316400	D	RGD:2298489|PMID:12054692	20080701	RGD		protein:increased expression:breast	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1316400	D	RGD:2289858|PMID:11742495	20080214	RGD		mRNA, protein:increased expression:breast	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:363	uterine cancer		ISO	RGD:1316400	D	RGD:2289849|PMID:16842844	20080214	RGD		protein:increased expression:serum	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:4362	cervical cancer		ISO	RGD:1316400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:4362	cervical cancer	disease_progression	ISO	RGD:1316400	D	RGD:2289851|PMID:16112176	20080214	RGD		protein:increased expression:uterine cervix	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1316401	D	RGD:2289852|PMID:15867365	20080214	RGD			
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1316400	D	RGD:2289847|PMID:17187007	20080214	RGD		associated with Breast Neoplasms;protein:increased expression:breast	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1316400	D	RGD:2289856|PMID:12845666	20080214	RGD		associated with Prostatic Neoplasm;protein:increased expression:prostate gland, lymph node	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1316400	D	RGD:2298489|PMID:12054692	20080701	RGD		associated with Breast Neoplasms;protein:increased expression:breast	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307293	Ebag9	estrogen receptor binding site associated antigen 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307294	Osbpl11	oxysterol binding protein-like 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307294	Osbpl11	oxysterol binding protein-like 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316402	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307294	Osbpl11	oxysterol binding protein-like 11	gene	DOID:4362	cervical cancer		ISO	RGD:1316402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307294	Osbpl11	oxysterol binding protein-like 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1316402	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307294	Osbpl11	oxysterol binding protein-like 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307294	Osbpl11	oxysterol binding protein-like 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307294	Osbpl11	oxysterol binding protein-like 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307294	Osbpl11	oxysterol binding protein-like 11	gene	DOID:9256	colorectal cancer		ISO	RGD:1316402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307295	Rabgef1	RAB guanine nucleotide exchange factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307295	Rabgef1	RAB guanine nucleotide exchange factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1316404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307295	Rabgef1	RAB guanine nucleotide exchange factor 1	gene	DOID:1909	melanoma		ISO	RGD:1316404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307295	Rabgef1	RAB guanine nucleotide exchange factor 1	gene	DOID:3275	thymoma		ISO	RGD:1316404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307295	Rabgef1	RAB guanine nucleotide exchange factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316404	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307295	Rabgef1	RAB guanine nucleotide exchange factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307295	Rabgef1	RAB guanine nucleotide exchange factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307295	Rabgef1	RAB guanine nucleotide exchange factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307298	Zic4	Zic family zinc finger 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307298	Zic4	Zic family zinc finger 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307298	Zic4	Zic family zinc finger 4	gene	DOID:1115	sarcoma		ISO	RGD:1316409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307298	Zic4	Zic family zinc finger 4	gene	DOID:2785	Dandy-Walker syndrome		ISS	RGD:1316410	D	RGD:13592920	20180518	MouseDO		OMIM:220200	
1307298	Zic4	Zic family zinc finger 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316409	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307298	Zic4	Zic family zinc finger 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307298	Zic4	Zic family zinc finger 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316409	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307299	Wasf2	WASP family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307299	Wasf2	WASP family member 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307299	Wasf2	WASP family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307299	Wasf2	WASP family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307301	Zfp263	zinc finger protein 263	gene	DOID:1115	sarcoma		ISO	RGD:1316415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307301	Zfp263	zinc finger protein 263	gene	DOID:3275	thymoma		ISO	RGD:1316415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307301	Zfp263	zinc finger protein 263	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307301	Zfp263	zinc finger protein 263	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307301	Zfp263	zinc finger protein 263	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEBPA-related disorder	
1307302	Chst9	carbohydrate sulfotransferase 9	gene	DOID:1324	lung cancer		ISO	RGD:1316417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307302	Chst9	carbohydrate sulfotransferase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1316417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307302	Chst9	carbohydrate sulfotransferase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1316419	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32376792|PMID:9536098
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1316419	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4	PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:20301641|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32376792|PMID:9536098
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1316419	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV	PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:20301641|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:28518168|PMID:30311386|PMID:31372974|PMID:32376792|PMID:32461654|PMID:34169998|PMID:36413997|PMID:9536098
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV	PMID:12872253|PMID:16199547|PMID:17576681|PMID:23996628|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28518168|PMID:28776325|PMID:30311386|PMID:31372974|PMID:32376792|PMID:32461654|PMID:34169998|PMID:9536098
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:0110186	Charcot-Marie-Tooth disease type 4D		ISO	RGD:1316419	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:0110186	Charcot-Marie-Tooth disease type 4D		ISO	RGD:1316419	D	RGD:7240710	20180711	OMIM			
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:0110186	Charcot-Marie-Tooth disease type 4D		ISO	RGD:1316419	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D	PMID:10831399|PMID:12872253|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:20301641|PMID:20582309|PMID:21892769|PMID:23393557|PMID:23996628|PMID:24136616|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:36413997|PMID:9536098
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:0110186	Charcot-Marie-Tooth disease type 4D		ISS	RGD:1316420	D	RGD:13592920	20230718	MouseDO		OMIM:601455	
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1316419	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:12872253|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:9536098
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:12872253|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:1324	lung cancer		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28492532
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:1909	melanoma		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341671
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:3068	glioblastoma		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341671
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341671
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778198
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341671
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:4310	smooth muscle tumor		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341671
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:480	movement disease		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532|PMID:32376792
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:5241	hemangioblastoma		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341671
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341671
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316419	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:22972152
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:630	genetic disease		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12872253|PMID:16199547|PMID:23996628|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28518168|PMID:32376792|PMID:32461654|PMID:34169998
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:9000906	Oropharyngeal Neoplasms		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22972152
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15867226|PMID:22972152
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341671
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341671
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1316419	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341671
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22972152
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341671
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1307303	Ndrg1	N-myc downstream regulated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
1307304	Rftn2	raftlin family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307304	Rftn2	raftlin family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307304	Rftn2	raftlin family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1316421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307304	Rftn2	raftlin family member 2	gene	DOID:3275	thymoma		ISO	RGD:1316421	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307304	Rftn2	raftlin family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316421	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307304	Rftn2	raftlin family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307305	Josd2	Josephin domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1606979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307305	Josd2	Josephin domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307305	Josd2	Josephin domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307306	Ddx21	DExD-box helicase 21	gene	DOID:0060058	lymphoma		ISO	RGD:1312763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307306	Ddx21	DExD-box helicase 21	gene	DOID:10534	stomach cancer		ISO	RGD:1312763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307306	Ddx21	DExD-box helicase 21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307306	Ddx21	DExD-box helicase 21	gene	DOID:1324	lung cancer		ISO	RGD:1312763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307306	Ddx21	DExD-box helicase 21	gene	DOID:1909	melanoma		ISO	RGD:1312763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307306	Ddx21	DExD-box helicase 21	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307306	Ddx21	DExD-box helicase 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307306	Ddx21	DExD-box helicase 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307306	Ddx21	DExD-box helicase 21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:0081341	congenital myopathy 5		ISO	RGD:1316424	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy	PMID:25326637|PMID:25741868|PMID:28492532
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J		ISO	RGD:1316424	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J	PMID:25326637|PMID:25741868|PMID:28492532
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:0112086	nuclear type mitochondrial complex I deficiency 26		ISO	RGD:1316424	D	RGD:7240710	20190315	OMIM			
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:0112086	nuclear type mitochondrial complex I deficiency 26		ISO	RGD:1316424	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 26 | ClinVar Annotator: match by term: NDUFA9-related condition	PMID:25741868|PMID:28492532|PMID:28671271|PMID:32907636
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:10534	stomach cancer		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:1115	sarcoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:1324	lung cancer		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:3275	thymoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:3652	Leigh disease		ISO	RGD:1316424	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868|PMID:28492532
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:4362	cervical cancer		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:5041	esophageal cancer		ISO	RGD:1316424	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:630	genetic disease		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:28492532
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307307	Ndufa9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1307308	Tnfrsf21	TNF receptor superfamily member 21	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307308	Tnfrsf21	TNF receptor superfamily member 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307308	Tnfrsf21	TNF receptor superfamily member 21	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1316426	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24113175
1307308	Tnfrsf21	TNF receptor superfamily member 21	gene	DOID:4362	cervical cancer		ISO	RGD:1316426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307308	Tnfrsf21	TNF receptor superfamily member 21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307308	Tnfrsf21	TNF receptor superfamily member 21	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316426	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11753679
1307308	Tnfrsf21	TNF receptor superfamily member 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307308	Tnfrsf21	TNF receptor superfamily member 21	gene	DOID:9007402	Gliosis		ISO	RGD:1316426	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24113175
1307309	Cenpm	centromere protein M	gene	DOID:1324	lung cancer		ISO	RGD:1316428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307309	Cenpm	centromere protein M	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307309	Cenpm	centromere protein M	gene	DOID:4362	cervical cancer		ISO	RGD:1316428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307309	Cenpm	centromere protein M	gene	DOID:5041	esophageal cancer		ISO	RGD:1316428	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307309	Cenpm	centromere protein M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307309	Cenpm	centromere protein M	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316428	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307309	Cenpm	centromere protein M	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:0080074	neural tube defect		ISO	RGD:1550697	D	RGD:12914149|PMID:23267094	20170711	RGD			
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:0080074	neural tube defect		ISS	RGD:1550697	D	RGD:13592920	20180518	MouseDO		OMIM:182940 | OMIM:301410 | OMIM:601634	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:0080074	neural tube defect	susceptibility	ISO	RGD:1342984	D	RGD:12914147|PMID:19777576	20170711	RGD		DNA:deletion/insertion polymorphism:splice junction:rs3832406(human)	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:10534	stomach cancer		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:1115	sarcoma		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:1324	lung cancer		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:3275	thymoma		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1342984	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:6039	uveal melanoma		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:9003566	Mesothelioma		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1550697	D	RGD:12914149|PMID:23267094	20170711	RGD			
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307311	Mthfd1l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307312	Ppp4r2	protein phosphatase 4, regulatory subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307312	Ppp4r2	protein phosphatase 4, regulatory subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307312	Ppp4r2	protein phosphatase 4, regulatory subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1316433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307312	Ppp4r2	protein phosphatase 4, regulatory subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1316433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307312	Ppp4r2	protein phosphatase 4, regulatory subunit 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307312	Ppp4r2	protein phosphatase 4, regulatory subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307312	Ppp4r2	protein phosphatase 4, regulatory subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307312	Ppp4r2	protein phosphatase 4, regulatory subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307312	Ppp4r2	protein phosphatase 4, regulatory subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307312	Ppp4r2	protein phosphatase 4, regulatory subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1307312	Ppp4r2	protein phosphatase 4, regulatory subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307312	Ppp4r2	protein phosphatase 4, regulatory subunit 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1316433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307313	Dkk1	dickkopf WNT signaling pathway inhibitor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307313	Dkk1	dickkopf WNT signaling pathway inhibitor 1	gene	DOID:1115	sarcoma		ISO	RGD:1316435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307313	Dkk1	dickkopf WNT signaling pathway inhibitor 1	gene	DOID:13714	anodontia		ISO	RGD:1316435	D	RGD:12738234|PMID:22984994	20170131	RGD		DNA:SNP: :rs11001553 (human)	
1307313	Dkk1	dickkopf WNT signaling pathway inhibitor 1	gene	DOID:289	endometriosis		ISO	RGD:1316435	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
1307313	Dkk1	dickkopf WNT signaling pathway inhibitor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316435	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307313	Dkk1	dickkopf WNT signaling pathway inhibitor 1	gene	DOID:9002165	Diabetic Nephropathies		IMP		D	RGD:6907383|PMID:20019166	20121101	RGD		associated with Diabetes Mellitus, Experimental	
1307313	Dkk1	dickkopf WNT signaling pathway inhibitor 1	gene	DOID:9002278	Metabolic Bone Diseases		IDA		D	RGD:6907380|PMID:21567076	20121101	RGD		associated with Diabetes Mellitus, Experimental	
1307313	Dkk1	dickkopf WNT signaling pathway inhibitor 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1316436	D	RGD:6907379|PMID:21773994	20121101	RGD			
1307313	Dkk1	dickkopf WNT signaling pathway inhibitor 1	gene	DOID:9002331	Knee Osteoarthritis		IMP		D	RGD:6907382|PMID:20131282	20121101	RGD			
1307313	Dkk1	dickkopf WNT signaling pathway inhibitor 1	gene	DOID:9002589	Bone Fractures		ISO	RGD:1316435	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22504420
1307313	Dkk1	dickkopf WNT signaling pathway inhibitor 1	gene	DOID:9007090	Experimental Seizures	treatment	IMP		D	RGD:6907384|PMID:17437412	20121101	RGD			
1307313	Dkk1	dickkopf WNT signaling pathway inhibitor 1	gene	DOID:9008763	Femoral Fractures		IMP		D	RGD:6907379|PMID:21773994	20121101	RGD			
1307313	Dkk1	dickkopf WNT signaling pathway inhibitor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316435	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18283316
1307314	Cbx6	chromobox 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307314	Cbx6	chromobox 6	gene	DOID:1909	melanoma		ISO	RGD:1316437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307314	Cbx6	chromobox 6	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:1316437	D	RGD:9587354|PMID:24260522	20141008	RGD		mRNA,protein:decreased expression:astrocyte:	
1307314	Cbx6	chromobox 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307315	Clba1	clathrin binding box of aftiphilin containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307315	Clba1	clathrin binding box of aftiphilin containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307315	Clba1	clathrin binding box of aftiphilin containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307316	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307316	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307316	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:1205	allergic disease		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	
1307316	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:1612	breast cancer	severity	ISO	RGD:1344736	D	RGD:9588606|PMID:21837478	20141031	RGD		mRNA:decreased expression:breast (human)	
1307316	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307316	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307316	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307316	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307316	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344736	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307316	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307316	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307316	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307316	L3mbtl1	L3MBTL histone methyl-lysine binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:0070165	spermatogenic failure 18		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 18	PMID:25741868
1307318	Stk36	serine/threonine kinase 36	gene	DOID:0070758	primary ciliary dyskinesia 46		ISO	RGD:1316442	D	RGD:7240710	20210728	OMIM			
1307318	Stk36	serine/threonine kinase 36	gene	DOID:0070758	primary ciliary dyskinesia 46		ISO	RGD:1316442	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 46 | ClinVar Annotator: match by term: STK36-related condition	PMID:24033266|PMID:25741868|PMID:28492532
1307318	Stk36	serine/threonine kinase 36	gene	DOID:10534	stomach cancer		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:10908	hydrocephalus		ISS	RGD:1550700	D	RGD:13592920	20180518	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:1115	sarcoma		ISO	RGD:1316442	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:1909	melanoma		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:3275	thymoma		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:4362	cervical cancer		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1316442	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1307318	Stk36	serine/threonine kinase 36	gene	DOID:5041	esophageal cancer		ISO	RGD:1316442	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316442	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307318	Stk36	serine/threonine kinase 36	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1316442	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1307318	Stk36	serine/threonine kinase 36	gene	DOID:9563	bronchiectasis		ISO	RGD:1316442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:25741868
1307319	Snx11	sorting nexin 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307319	Snx11	sorting nexin 11	gene	DOID:1115	sarcoma		ISO	RGD:1316444	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307319	Snx11	sorting nexin 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307319	Snx11	sorting nexin 11	gene	DOID:3275	thymoma		ISO	RGD:1316444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307319	Snx11	sorting nexin 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316444	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1307319	Snx11	sorting nexin 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307319	Snx11	sorting nexin 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307319	Snx11	sorting nexin 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307319	Snx11	sorting nexin 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307321	Slc39a10	solute carrier family 39 member 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307321	Slc39a10	solute carrier family 39 member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307321	Slc39a10	solute carrier family 39 member 10	gene	DOID:1115	sarcoma		ISO	RGD:1316445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307321	Slc39a10	solute carrier family 39 member 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307321	Slc39a10	solute carrier family 39 member 10	gene	DOID:3275	thymoma		ISO	RGD:1316445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307321	Slc39a10	solute carrier family 39 member 10	gene	DOID:4362	cervical cancer		ISO	RGD:1316445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307321	Slc39a10	solute carrier family 39 member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307321	Slc39a10	solute carrier family 39 member 10	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1316445	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17359283
1307321	Slc39a10	solute carrier family 39 member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307321	Slc39a10	solute carrier family 39 member 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307321	Slc39a10	solute carrier family 39 member 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:1316449	D	RGD:9681739|PMID:22990015	20141205	RGD		DNA:SNP::rs1364044(human)	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:0060058	lymphoma		ISO	RGD:1316449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:1324	lung cancer		ISO	RGD:1316449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:1909	melanoma		ISO	RGD:1316449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:4362	cervical cancer		ISO	RGD:1316449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1316449	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307323	Adamts12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307325	Cfap97	cilia and flagella associated protein 97	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307325	Cfap97	cilia and flagella associated protein 97	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:13471403|RGD:13627150	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28492532
1307325	Cfap97	cilia and flagella associated protein 97	gene	DOID:1909	melanoma		ISO	RGD:1316452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307325	Cfap97	cilia and flagella associated protein 97	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307325	Cfap97	cilia and flagella associated protein 97	gene	DOID:3275	thymoma		ISO	RGD:1316452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307325	Cfap97	cilia and flagella associated protein 97	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307325	Cfap97	cilia and flagella associated protein 97	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307326	Hs3st3b1	heparan sulfate-glucosamine 3-sulfotransferase 3B1	gene	DOID:1115	sarcoma		ISO	RGD:1316454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307326	Hs3st3b1	heparan sulfate-glucosamine 3-sulfotransferase 3B1	gene	DOID:289	endometriosis		ISO	RGD:1316454	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1307326	Hs3st3b1	heparan sulfate-glucosamine 3-sulfotransferase 3B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307327	Pacsin3	protein kinase C and casein kinase substrate in neurons 3	gene	DOID:0061258	congenital myopathy 27		ISO	RGD:1316456	D	RGD:7240710	20251001	OMIM			
1307327	Pacsin3	protein kinase C and casein kinase substrate in neurons 3	gene	DOID:0061258	congenital myopathy 27		ISO	RGD:1316456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 27	
1307327	Pacsin3	protein kinase C and casein kinase substrate in neurons 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307327	Pacsin3	protein kinase C and casein kinase substrate in neurons 3	gene	DOID:1059	intellectual disability		ISO	RGD:1316456	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1307327	Pacsin3	protein kinase C and casein kinase substrate in neurons 3	gene	DOID:1115	sarcoma		ISO	RGD:1316456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307327	Pacsin3	protein kinase C and casein kinase substrate in neurons 3	gene	DOID:1909	melanoma		ISO	RGD:1316456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307327	Pacsin3	protein kinase C and casein kinase substrate in neurons 3	gene	DOID:4362	cervical cancer		ISO	RGD:1316456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307327	Pacsin3	protein kinase C and casein kinase substrate in neurons 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307327	Pacsin3	protein kinase C and casein kinase substrate in neurons 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307328	Trim7	tripartite motif-containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307328	Trim7	tripartite motif-containing 7	gene	DOID:0080600	COVID-19		ISO	RGD:1316458	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307328	Trim7	tripartite motif-containing 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307328	Trim7	tripartite motif-containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307328	Trim7	tripartite motif-containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:0060559	lethal congenital contracture syndrome 1		ISO	RGD:1316460	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18204449
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:0060559	lethal congenital contracture syndrome 1		ISO	RGD:1316460	D	RGD:7240710	20130221	OMIM			
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:0060559	lethal congenital contracture syndrome 1		ISO	RGD:1316460	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1 | ClinVar Annotator: match by term: Multiple contracture syndrome, Finnish type	PMID:16892327|PMID:18204449|PMID:24243016|PMID:25741868|PMID:27684565|PMID:28492532|PMID:7770128
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:10534	stomach cancer		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:1115	sarcoma		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:4362	cervical cancer		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:5041	esophageal cancer		ISO	RGD:1316460	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:630	genetic disease		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:9003573	Congenital Arthrogryposis with Anterior Horn Cell Disease		ISO	RGD:1316460	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:9003573	Congenital Arthrogryposis with Anterior Horn Cell Disease		ISO	RGD:1316460	D	RGD:7240710	20130221	OMIM			
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:9003573	Congenital Arthrogryposis with Anterior Horn Cell Disease		ISO	RGD:1316460	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: GLE1-related condition	PMID:25741868|PMID:28492532
1307329	Gle1	GLE1 RNA export mediator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:0050951	hereditary ataxia		ISS	RGD:1316463	D	RGD:13592920	20180518	MouseDO			
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:0111155	autosomal recessive spinocerebellar ataxia 21		ISO	RGD:1316462	D	RGD:7240710	20180418	OMIM			
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:0111155	autosomal recessive spinocerebellar ataxia 21		ISO	RGD:1316462	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome | ClinVar Annotator: match by term: SCYL1-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21	PMID:23175812|PMID:25741868|PMID:26581903|PMID:28492532|PMID:29419818|PMID:30258122|PMID:32146038
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316462	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:1909	melanoma		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:630	genetic disease		ISO	RGD:1316462	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:767	muscular atrophy		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1316462	D	RGD:11554173	20180424	CTD		CTD Direct Evidence: marker/mechanism	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute liver failure	PMID:29419818
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Incoordination	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307330	Scyl1	SCY1 like pseudokinase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307331	Nmnat2	nicotinamide nucleotide adenylyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307331	Nmnat2	nicotinamide nucleotide adenylyltransferase 2	gene	DOID:11984	hypertrophic cardiomyopathy		IEP		D	RGD:13782043|PMID:22449973	20180815	RGD		protein:decreased expression, decreased activity:heart	
1307331	Nmnat2	nicotinamide nucleotide adenylyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1316464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307331	Nmnat2	nicotinamide nucleotide adenylyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1316464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307331	Nmnat2	nicotinamide nucleotide adenylyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307331	Nmnat2	nicotinamide nucleotide adenylyltransferase 2	gene	DOID:8725	vascular dementia		ISO	RGD:1316464	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
1307331	Nmnat2	nicotinamide nucleotide adenylyltransferase 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1316464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
1307331	Nmnat2	nicotinamide nucleotide adenylyltransferase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1316464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307332	Srxn1	sulfiredoxin 1	gene	DOID:3275	thymoma		ISO	RGD:1316466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307332	Srxn1	sulfiredoxin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307333	Abca8a	ATP-binding cassette, subfamily A (ABC1), member 8a	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347313	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307333	Abca8a	ATP-binding cassette, subfamily A (ABC1), member 8a	gene	DOID:10534	stomach cancer		ISO	RGD:1347313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307333	Abca8a	ATP-binding cassette, subfamily A (ABC1), member 8a	gene	DOID:1115	sarcoma		ISO	RGD:1347313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307333	Abca8a	ATP-binding cassette, subfamily A (ABC1), member 8a	gene	DOID:1324	lung cancer		ISO	RGD:1347313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307333	Abca8a	ATP-binding cassette, subfamily A (ABC1), member 8a	gene	DOID:4362	cervical cancer		ISO	RGD:1347313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307333	Abca8a	ATP-binding cassette, subfamily A (ABC1), member 8a	gene	DOID:5041	esophageal cancer		ISO	RGD:1347313	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307333	Abca8a	ATP-binding cassette, subfamily A (ABC1), member 8a	gene	DOID:6039	uveal melanoma		ISO	RGD:1347313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307333	Abca8a	ATP-binding cassette, subfamily A (ABC1), member 8a	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307333	Abca8a	ATP-binding cassette, subfamily A (ABC1), member 8a	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307333	Abca8a	ATP-binding cassette, subfamily A (ABC1), member 8a	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1347313	D	RGD:11554173	20240130	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1307333	Abca8a	ATP-binding cassette, subfamily A (ABC1), member 8a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307333	Abca8a	ATP-binding cassette, subfamily A (ABC1), member 8a	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307334	Pofut2	protein O-fucosyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307334	Pofut2	protein O-fucosyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307334	Pofut2	protein O-fucosyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307334	Pofut2	protein O-fucosyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307334	Pofut2	protein O-fucosyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1316469	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307334	Pofut2	protein O-fucosyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307334	Pofut2	protein O-fucosyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316469	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307334	Pofut2	protein O-fucosyltransferase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307334	Pofut2	protein O-fucosyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316469	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307334	Pofut2	protein O-fucosyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307334	Pofut2	protein O-fucosyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307335	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307335	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307335	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:1115	sarcoma		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307335	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:1316471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307335	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1618138	D	RGD:5037232|PMID:18246602	20110303	RGD		mRNA:increased expression:multiple	
1307335	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307335	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307335	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307335	Il20ra	interleukin 20 receptor subunit alpha	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1316471	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1307336	Morn4	MORN repeat containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1316472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307336	Morn4	MORN repeat containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307336	Morn4	MORN repeat containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307337	Wdfy2	WD repeat and FYVE domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1316474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307337	Wdfy2	WD repeat and FYVE domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1316474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307337	Wdfy2	WD repeat and FYVE domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307337	Wdfy2	WD repeat and FYVE domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307337	Wdfy2	WD repeat and FYVE domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307338	Igdcc3	immunoglobulin superfamily, DCC subclass, member 3	gene	DOID:1115	sarcoma		ISO	RGD:1316476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307338	Igdcc3	immunoglobulin superfamily, DCC subclass, member 3	gene	DOID:3275	thymoma		ISO	RGD:1316476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307338	Igdcc3	immunoglobulin superfamily, DCC subclass, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307338	Igdcc3	immunoglobulin superfamily, DCC subclass, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307338	Igdcc3	immunoglobulin superfamily, DCC subclass, member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307339	Trim33	tripartite motif-containing 33	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307339	Trim33	tripartite motif-containing 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307339	Trim33	tripartite motif-containing 33	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1316478	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
1307339	Trim33	tripartite motif-containing 33	gene	DOID:10534	stomach cancer		ISO	RGD:1316478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307339	Trim33	tripartite motif-containing 33	gene	DOID:1909	melanoma		ISO	RGD:1316478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307339	Trim33	tripartite motif-containing 33	gene	DOID:2394	ovarian cancer		ISO	RGD:1316478	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1307339	Trim33	tripartite motif-containing 33	gene	DOID:3070	high grade glioma		ISO	RGD:1316478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307339	Trim33	tripartite motif-containing 33	gene	DOID:3275	thymoma		ISO	RGD:1316478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307339	Trim33	tripartite motif-containing 33	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307339	Trim33	tripartite motif-containing 33	gene	DOID:4362	cervical cancer		ISO	RGD:1316478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307339	Trim33	tripartite motif-containing 33	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307339	Trim33	tripartite motif-containing 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307339	Trim33	tripartite motif-containing 33	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307339	Trim33	tripartite motif-containing 33	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307339	Trim33	tripartite motif-containing 33	gene	DOID:9009376	Developmental Dysplasia of the Hip 4		ISO	RGD:1316478	D	RGD:7240710	20250903	OMIM			
1307339	Trim33	tripartite motif-containing 33	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307341	Capn12	calpain 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307341	Capn12	calpain 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307341	Capn12	calpain 12	gene	DOID:10534	stomach cancer		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307341	Capn12	calpain 12	gene	DOID:1115	sarcoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307341	Capn12	calpain 12	gene	DOID:12849	autistic disorder		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: autism	
1307341	Capn12	calpain 12	gene	DOID:1909	melanoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307341	Capn12	calpain 12	gene	DOID:4362	cervical cancer		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307341	Capn12	calpain 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307341	Capn12	calpain 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307341	Capn12	calpain 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1316482	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307341	Capn12	calpain 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307341	Capn12	calpain 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307341	Capn12	calpain 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307342	Gpr137b	G protein-coupled receptor 137B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307342	Gpr137b	G protein-coupled receptor 137B	gene	DOID:1909	melanoma		ISO	RGD:1316484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307342	Gpr137b	G protein-coupled receptor 137B	gene	DOID:4362	cervical cancer		ISO	RGD:1316484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307342	Gpr137b	G protein-coupled receptor 137B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307342	Gpr137b	G protein-coupled receptor 137B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307343	Herpud2	HERPUD family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307343	Herpud2	HERPUD family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307343	Herpud2	HERPUD family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1605640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307343	Herpud2	HERPUD family member 2	gene	DOID:1909	melanoma		ISO	RGD:1605640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307343	Herpud2	HERPUD family member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307343	Herpud2	HERPUD family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307343	Herpud2	HERPUD family member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307343	Herpud2	HERPUD family member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307343	Herpud2	HERPUD family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307343	Herpud2	HERPUD family member 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1605640	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1307343	Herpud2	HERPUD family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307345	Zfp521	zinc finger protein 521	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307345	Zfp521	zinc finger protein 521	gene	DOID:1115	sarcoma		ISO	RGD:1316488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307345	Zfp521	zinc finger protein 521	gene	DOID:12849	autistic disorder		ISO	RGD:1316488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868
1307345	Zfp521	zinc finger protein 521	gene	DOID:1324	lung cancer		ISO	RGD:1316488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307345	Zfp521	zinc finger protein 521	gene	DOID:1909	melanoma		ISO	RGD:1316488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307345	Zfp521	zinc finger protein 521	gene	DOID:2030	anxiety disorder		ISO	RGD:1316488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
1307345	Zfp521	zinc finger protein 521	gene	DOID:4362	cervical cancer		ISO	RGD:1316488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307345	Zfp521	zinc finger protein 521	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307345	Zfp521	zinc finger protein 521	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307345	Zfp521	zinc finger protein 521	gene	DOID:5041	esophageal cancer		ISO	RGD:1316488	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307345	Zfp521	zinc finger protein 521	gene	DOID:5419	schizophrenia		ISS	RGD:1316489	D	RGD:13592920	20180518	MouseDO		OMIM:181500	
1307345	Zfp521	zinc finger protein 521	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307345	Zfp521	zinc finger protein 521	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307346	Fbxo21	F-box protein 21	gene	DOID:10534	stomach cancer		ISO	RGD:1316490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307346	Fbxo21	F-box protein 21	gene	DOID:1324	lung cancer		ISO	RGD:1316490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307346	Fbxo21	F-box protein 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307346	Fbxo21	F-box protein 21	gene	DOID:9004657	Weight Gain		ISO	RGD:1316490	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1307346	Fbxo21	F-box protein 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307346	Fbxo21	F-box protein 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307348	Nhlrc2	NHL repeat containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307348	Nhlrc2	NHL repeat containing 2	gene	DOID:1909	melanoma		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307348	Nhlrc2	NHL repeat containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307348	Nhlrc2	NHL repeat containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316494	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307348	Nhlrc2	NHL repeat containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307348	Nhlrc2	NHL repeat containing 2	gene	DOID:630	genetic disease		ISO	RGD:1316494	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1307348	Nhlrc2	NHL repeat containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307348	Nhlrc2	NHL repeat containing 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307348	Nhlrc2	NHL repeat containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307348	Nhlrc2	NHL repeat containing 2	gene	DOID:9008399	FINCA Syndrome		ISO	RGD:1316494	D	RGD:7240710	20190315	OMIM			
1307348	Nhlrc2	NHL repeat containing 2	gene	DOID:9008399	FINCA Syndrome		ISO	RGD:1316494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS | ClinVar Annotator: match by term: Fibrosis, neurodegeneration, and cerebral angiomatosis | ClinVar Annotator: match by term: NHLRC2-related condition	PMID:25741868|PMID:37188825
1307348	Nhlrc2	NHL repeat containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307352	Tssk1b	testis-specific serine kinase 1B	gene	DOID:417	autoimmune disease		ISO	RGD:1552675	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15140057
1307352	Tssk1b	testis-specific serine kinase 1B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605025	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1307354	Tysnd1	trypsin like peroxisomal matrix peptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307354	Tysnd1	trypsin like peroxisomal matrix peptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307354	Tysnd1	trypsin like peroxisomal matrix peptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307354	Tysnd1	trypsin like peroxisomal matrix peptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307354	Tysnd1	trypsin like peroxisomal matrix peptidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307355	Stkld1	serine/threonine kinase-like domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307355	Stkld1	serine/threonine kinase-like domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307355	Stkld1	serine/threonine kinase-like domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307355	Stkld1	serine/threonine kinase-like domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307355	Stkld1	serine/threonine kinase-like domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307355	Stkld1	serine/threonine kinase-like domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307355	Stkld1	serine/threonine kinase-like domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307355	Stkld1	serine/threonine kinase-like domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307355	Stkld1	serine/threonine kinase-like domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307356	Tent4a	terminal nucleotidyltransferase 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307356	Tent4a	terminal nucleotidyltransferase 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1316507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307356	Tent4a	terminal nucleotidyltransferase 4A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307356	Tent4a	terminal nucleotidyltransferase 4A	gene	DOID:1324	lung cancer		ISO	RGD:1316507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307356	Tent4a	terminal nucleotidyltransferase 4A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307356	Tent4a	terminal nucleotidyltransferase 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307356	Tent4a	terminal nucleotidyltransferase 4A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307356	Tent4a	terminal nucleotidyltransferase 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307357	Enkd1	enkurin domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307357	Enkd1	enkurin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307357	Enkd1	enkurin domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307357	Enkd1	enkurin domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307358	Lrrc10	leucine-rich repeat-containing 10	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1348592	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
1307358	Lrrc10	leucine-rich repeat-containing 10	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1348592	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28166811|PMID:28492532
1307358	Lrrc10	leucine-rich repeat-containing 10	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1348592	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	PMID:28492532
1307358	Lrrc10	leucine-rich repeat-containing 10	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1348592	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28032242|PMID:28492532
1307358	Lrrc10	leucine-rich repeat-containing 10	gene	DOID:12930	dilated cardiomyopathy		ISS	RGD:1316510	D	RGD:13592920	20180518	MouseDO			
1307358	Lrrc10	leucine-rich repeat-containing 10	gene	DOID:6000	congestive heart failure		ISO	RGD:1348592	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
1307359	Brd9	bromodomain containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307359	Brd9	bromodomain containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307359	Brd9	bromodomain containing 9	gene	DOID:10534	stomach cancer		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307359	Brd9	bromodomain containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307359	Brd9	bromodomain containing 9	gene	DOID:1909	melanoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307359	Brd9	bromodomain containing 9	gene	DOID:3275	thymoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307359	Brd9	bromodomain containing 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307359	Brd9	bromodomain containing 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1316511	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307359	Brd9	bromodomain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307359	Brd9	bromodomain containing 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307359	Brd9	bromodomain containing 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307359	Brd9	bromodomain containing 9	gene	DOID:8541	Sezary's disease		ISO	RGD:1316511	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
1307359	Brd9	bromodomain containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307359	Brd9	bromodomain containing 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307360	Atf1	activating transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307360	Atf1	activating transcription factor 1	gene	DOID:0080322	polycystic kidney disease		IEP		D	RGD:2316104|PMID:19924104	20100126	RGD		mRNA:increased expression:kidney (rat)	
1307360	Atf1	activating transcription factor 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1316513	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1307360	Atf1	activating transcription factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1316513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307360	Atf1	activating transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307360	Atf1	activating transcription factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307360	Atf1	activating transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307360	Atf1	activating transcription factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307361	Bcl2l12	Bcl2 like 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307361	Bcl2l12	Bcl2 like 12	gene	DOID:10534	stomach cancer		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307361	Bcl2l12	Bcl2 like 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307361	Bcl2l12	Bcl2 like 12	gene	DOID:1115	sarcoma		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307361	Bcl2l12	Bcl2 like 12	gene	DOID:1324	lung cancer		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307361	Bcl2l12	Bcl2 like 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307361	Bcl2l12	Bcl2 like 12	gene	DOID:3275	thymoma		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307361	Bcl2l12	Bcl2 like 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307361	Bcl2l12	Bcl2 like 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307361	Bcl2l12	Bcl2 like 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307362	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307362	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307362	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307362	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307362	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307362	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316516	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307362	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307362	Bccip	BRCA2 and CDKN1A interacting protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316516	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307363	Nkiras2	NFKB inhibitor interacting Ras-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307363	Nkiras2	NFKB inhibitor interacting Ras-like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1316518	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307363	Nkiras2	NFKB inhibitor interacting Ras-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307363	Nkiras2	NFKB inhibitor interacting Ras-like 2	gene	DOID:3275	thymoma		ISO	RGD:1316518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307363	Nkiras2	NFKB inhibitor interacting Ras-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307364	Spata13	spermatogenesis associated 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307364	Spata13	spermatogenesis associated 13	gene	DOID:10534	stomach cancer		ISO	RGD:1316520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307364	Spata13	spermatogenesis associated 13	gene	DOID:1909	melanoma		ISO	RGD:1316520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307364	Spata13	spermatogenesis associated 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307364	Spata13	spermatogenesis associated 13	gene	DOID:3275	thymoma		ISO	RGD:1316520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307364	Spata13	spermatogenesis associated 13	gene	DOID:4362	cervical cancer		ISO	RGD:1316520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307364	Spata13	spermatogenesis associated 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307364	Spata13	spermatogenesis associated 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307364	Spata13	spermatogenesis associated 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307364	Spata13	spermatogenesis associated 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307365	Cep162	centrosomal protein 162	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307365	Cep162	centrosomal protein 162	gene	DOID:10534	stomach cancer		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307365	Cep162	centrosomal protein 162	gene	DOID:1115	sarcoma		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307365	Cep162	centrosomal protein 162	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307365	Cep162	centrosomal protein 162	gene	DOID:3070	high grade glioma		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307365	Cep162	centrosomal protein 162	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307365	Cep162	centrosomal protein 162	gene	DOID:5041	esophageal cancer		ISO	RGD:1316522	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307365	Cep162	centrosomal protein 162	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307365	Cep162	centrosomal protein 162	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307365	Cep162	centrosomal protein 162	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307365	Cep162	centrosomal protein 162	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:0050581	brachydactyly		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:26092869
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1607065	D	RGD:8554872	20190312	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:25741868|PMID:26092869
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:25741868|PMID:26092869|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:0060958	orofaciodigital syndrome XIV		ISO	RGD:1607065	D	RGD:7240710	20151209	OMIM			
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:0060958	orofaciodigital syndrome XIV		ISO	RGD:1607065	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: C2CD3-related condition | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XIV | ClinVar Annotator: match by term: Orofaciodigital syndrome xiv	PMID:16199547|PMID:17576681|PMID:24997988|PMID:25741868|PMID:26092869|PMID:26477546|PMID:27141300|PMID:28492532|PMID:30097616|PMID:9536098
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:0110085	asphyxiating thoracic dystrophy 1		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome	PMID:25741868|PMID:26092869
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:10448360	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:25741868|PMID:26092869
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:10629	microphthalmia		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:24997988|PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:1115	sarcoma		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:12270	coloboma		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorioretinal coloboma | ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:25741868|PMID:26477546|PMID:28492532|PMID:34930662
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:1324	lung cancer		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:1909	melanoma		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:1923	disorder of sexual development		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:25741868|PMID:26092869
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:2340	craniosynostosis		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:26092869
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:3070	high grade glioma		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:3275	thymoma		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:3462	hamartoma		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hamartoma	PMID:25741868|PMID:26477546|PMID:28492532|PMID:34930662
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:4501	orofaciodigital syndrome		ISO	RGD:1607065	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24997988
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1607065	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:630	genetic disease		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:674	cleft palate		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:26477546|PMID:28492532|PMID:34930662
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:8488	polyhydramnios		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868|PMID:26477546|PMID:28492532|PMID:34930662
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:9001031	Retrognathia		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:26092869
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:9003004	MICROMELIA		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micromelia	PMID:25741868|PMID:26092869
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:9005616	Micrognathism		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:26477546|PMID:28492532|PMID:34930662
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:9008539	Perinatal Death		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal death	PMID:25741868
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:9008811	Tachypnea		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1607065	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1307366	C2cd3	C2 domain containing 3 centriole elongation regulator	gene	DOID:9296	cleft lip		ISO	RGD:1607065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868
1307367	Zbtb5	zinc finger and BTB domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307367	Zbtb5	zinc finger and BTB domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307369	Smyd4	SET and MYND domain containing 4	gene	DOID:0050902	medulloblastoma		ISO	RGD:1316528	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
1307369	Smyd4	SET and MYND domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307369	Smyd4	SET and MYND domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307369	Smyd4	SET and MYND domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307369	Smyd4	SET and MYND domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1316528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307369	Smyd4	SET and MYND domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1316528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307369	Smyd4	SET and MYND domain containing 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1316528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307369	Smyd4	SET and MYND domain containing 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1307369	Smyd4	SET and MYND domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307369	Smyd4	SET and MYND domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307369	Smyd4	SET and MYND domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307370	Cdh5	cadherin 5	gene	DOID:0050535	exudative vitreoretinopathy		ISS	RGD:1316531	D	RGD:13592920	20230511	MouseDO			
1307370	Cdh5	cadherin 5	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1316530	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18422935
1307370	Cdh5	cadherin 5	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1316530	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:28377727
1307370	Cdh5	cadherin 5	gene	DOID:1909	melanoma		ISO	RGD:1316530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307370	Cdh5	cadherin 5	gene	DOID:3275	thymoma		ISO	RGD:1316530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307370	Cdh5	cadherin 5	gene	DOID:3393	coronary artery disease		ISO	RGD:1316530	D	RGD:1598391|PMID:14695457	20061121	RGD			
1307370	Cdh5	cadherin 5	gene	DOID:3963	thyroid gland carcinoma	treatment	ISO	RGD:1316530	D	RGD:151665104|PMID:32626543	20220310	RGD			
1307370	Cdh5	cadherin 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307370	Cdh5	cadherin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307370	Cdh5	cadherin 5	gene	DOID:6432	pulmonary hypertension		IEP		D	RGD:38500244|PMID:25593290	20200924	RGD		protein:decreased expression:lung	
1307370	Cdh5	cadherin 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307370	Cdh5	cadherin 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316530	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307370	Cdh5	cadherin 5	gene	DOID:9005527	No-Reflow Phenomenon		ISO	RGD:1316530	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16824628
1307370	Cdh5	cadherin 5	gene	DOID:9006102	Right Ventricular Hypertrophy		IEP		D	RGD:38500244|PMID:25593290	20200924	RGD		protein:decreased expression:lung	
1307370	Cdh5	cadherin 5	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1316530	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1307370	Cdh5	cadherin 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307370	Cdh5	cadherin 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1316530	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
1307370	Cdh5	cadherin 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316530	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
1307372	Xylb	xylulokinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307372	Xylb	xylulokinase	gene	DOID:0060058	lymphoma		ISO	RGD:1316534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307372	Xylb	xylulokinase	gene	DOID:1115	sarcoma		ISO	RGD:1316534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307372	Xylb	xylulokinase	gene	DOID:1909	melanoma		ISO	RGD:1316534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307372	Xylb	xylulokinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307372	Xylb	xylulokinase	gene	DOID:3275	thymoma		ISO	RGD:1316534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307372	Xylb	xylulokinase	gene	DOID:4362	cervical cancer		ISO	RGD:1316534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307372	Xylb	xylulokinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307372	Xylb	xylulokinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307372	Xylb	xylulokinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307372	Xylb	xylulokinase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307372	Xylb	xylulokinase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1316534	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1307372	Xylb	xylulokinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307372	Xylb	xylulokinase	gene	DOID:9256	colorectal cancer		ISO	RGD:1316534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:0060951	polycystic kidney disease 6		ISO	RGD:1316536	D	RGD:7240710	20190315	OMIM			
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:0060951	polycystic kidney disease 6		ISO	RGD:1316536	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: DNAJB11-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | ClinVar Annotator: match by term: Polycystic kidney disease 6 with or without polycystic liver disease	PMID:25741868|PMID:28492532|PMID:29706351|PMID:32631624|PMID:33129895|PMID:34177435
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:10534	stomach cancer		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:1115	sarcoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:12215	oligohydramnios		ISO	RGD:1316536	D	RGD:8554872	20220315	ClinVar		ClinVar Annotator: match by term: Anhydramnios	PMID:25741868|PMID:35005812
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:1324	lung cancer		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:2394	ovarian cancer		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:2975	cystic kidney disease		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868|PMID:32631624
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:4362	cervical cancer		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:5041	esophageal cancer		ISO	RGD:1316536	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:630	genetic disease		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32631624|PMID:33129895|PMID:34177435
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:25741868|PMID:32631624
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	PMID:25741868|PMID:28492532
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1307373	Dnajb11	DnaJ heat shock protein family (Hsp40) member B11	gene	DOID:9256	colorectal cancer		ISO	RGD:1316536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1307374	Rprd1a	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307374	Rprd1a	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:1909	melanoma		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307374	Rprd1a	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307374	Rprd1a	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:3275	thymoma		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307374	Rprd1a	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307374	Rprd1a	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307374	Rprd1a	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307374	Rprd1a	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307375	Tarbp2	Tarbp2 subunit of RISC loading complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307375	Tarbp2	Tarbp2 subunit of RISC loading complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307375	Tarbp2	Tarbp2 subunit of RISC loading complex	gene	DOID:10534	stomach cancer		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307375	Tarbp2	Tarbp2 subunit of RISC loading complex	gene	DOID:1324	lung cancer		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307375	Tarbp2	Tarbp2 subunit of RISC loading complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307375	Tarbp2	Tarbp2 subunit of RISC loading complex	gene	DOID:4362	cervical cancer		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307375	Tarbp2	Tarbp2 subunit of RISC loading complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307375	Tarbp2	Tarbp2 subunit of RISC loading complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307375	Tarbp2	Tarbp2 subunit of RISC loading complex	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1316539	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25701956
1307376	Rpa1	replication protein A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307376	Rpa1	replication protein A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1307376	Rpa1	replication protein A1	gene	DOID:1115	sarcoma		ISO	RGD:1316541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307376	Rpa1	replication protein A1	gene	DOID:1324	lung cancer		ISO	RGD:1316541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307376	Rpa1	replication protein A1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307376	Rpa1	replication protein A1	gene	DOID:3070	high grade glioma		ISO	RGD:1316541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307376	Rpa1	replication protein A1	gene	DOID:4362	cervical cancer		ISO	RGD:1316541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1307376	Rpa1	replication protein A1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307376	Rpa1	replication protein A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316541	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307376	Rpa1	replication protein A1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307376	Rpa1	replication protein A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1307376	Rpa1	replication protein A1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307376	Rpa1	replication protein A1	gene	DOID:9001341	Chloracne		ISO	RGD:1316541	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
1307376	Rpa1	replication protein A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307376	Rpa1	replication protein A1	gene	DOID:9007119	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6		ISO	RGD:1316541	D	RGD:7240710	20220316	OMIM			
1307376	Rpa1	replication protein A1	gene	DOID:9007119	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6		ISO	RGD:1316541	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | ClinVar Annotator: match by term: RPA1-related short telomere syndrome	PMID:25741868|PMID:34767620
1307376	Rpa1	replication protein A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307376	Rpa1	replication protein A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307377	Klc2	kinesin light chain 2	gene	DOID:0050563	nonsyndromic deafness		ISS	RGD:1316543	D	RGD:13592920	20240321	MouseDO			
1307377	Klc2	kinesin light chain 2	gene	DOID:0060491	SPOAN syndrome		ISO	RGD:1603973	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307377	Klc2	kinesin light chain 2	gene	DOID:0060491	SPOAN syndrome		ISO	RGD:1603973	D	RGD:7240710	20190315	OMIM			
1307377	Klc2	kinesin light chain 2	gene	DOID:0060491	SPOAN syndrome		ISO	RGD:1603973	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KLC2-related condition | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, optic atropy, and neuropathy	PMID:25741868|PMID:28492532
1307377	Klc2	kinesin light chain 2	gene	DOID:1324	lung cancer		ISO	RGD:1603973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307377	Klc2	kinesin light chain 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307377	Klc2	kinesin light chain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307377	Klc2	kinesin light chain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307377	Klc2	kinesin light chain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354069	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1354069	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25774636
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:3070	high grade glioma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:3275	thymoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354069	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1354069	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307379	Asap1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307380	Actr1b	actin related protein 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307380	Actr1b	actin related protein 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307380	Actr1b	actin related protein 1B	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1316546	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:25741868
1307380	Actr1b	actin related protein 1B	gene	DOID:1324	lung cancer		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307380	Actr1b	actin related protein 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307380	Actr1b	actin related protein 1B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307380	Actr1b	actin related protein 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307380	Actr1b	actin related protein 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307380	Actr1b	actin related protein 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307381	Jmjd8	jumonji domain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307381	Jmjd8	jumonji domain containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307381	Jmjd8	jumonji domain containing 8	gene	DOID:1115	sarcoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307381	Jmjd8	jumonji domain containing 8	gene	DOID:1324	lung cancer		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307381	Jmjd8	jumonji domain containing 8	gene	DOID:3275	thymoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307381	Jmjd8	jumonji domain containing 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307381	Jmjd8	jumonji domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307381	Jmjd8	jumonji domain containing 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307381	Jmjd8	jumonji domain containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307382	Surf6	surfeit 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307382	Surf6	surfeit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316549	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307382	Surf6	surfeit 6	gene	DOID:4362	cervical cancer		ISO	RGD:1316549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307382	Surf6	surfeit 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307382	Surf6	surfeit 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:19631310|PMID:21450060|PMID:22927265|PMID:25741868|PMID:26783444|PMID:27025581|PMID:28492532
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:0060762	restrictive dermopathy		ISS	RGD:1316552	D	RGD:13592920	20180518	MouseDO		OMIM:275210	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:10892	hypospadias		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:14985385|PMID:25741868
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:1115	sarcoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:1324	lung cancer		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:3275	thymoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316551	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:630	genetic disease		ISO	RGD:1316551	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:19631310|PMID:21450060|PMID:25741868|PMID:28492532
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:9001309	Ichthyosis Prematurity Syndrome		ISO	RGD:1316551	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:9001309	Ichthyosis Prematurity Syndrome		ISO	RGD:1316551	D	RGD:7240710	20130221	OMIM			
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:9001309	Ichthyosis Prematurity Syndrome		ISO	RGD:1316551	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS PREMATURITY SYNDROME | ClinVar Annotator: match by term: Ichthyosis congenita IV | ClinVar Annotator: match by term: Ichthyosis prematurity syndrome | ClinVar Annotator: match by term: SLC27A4-related condition	PMID:19631310|PMID:21450060|PMID:21856041|PMID:22927265|PMID:25741868|PMID:26783444|PMID:27025581|PMID:27168232|PMID:27224495|PMID:28492532|PMID:30077338|PMID:30536735|PMID:31595490|PMID:31681265|PMID:33935161
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1316551	D	RGD:1625638|PMID:15168018	20070615	RGD		mRNA:increased expression:subcutaneous adipose tissue	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:9452	steatotic liver disease		IEP		D	RGD:1625640|PMID:16248953	20070615	RGD		mRNA, protein:increased expression	
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:9834	hyperopia		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1307383	Slc27a4	solute carrier family 27 member 4	gene	DOID:9970	obesity		ISO	RGD:1316551	D	RGD:1625638|PMID:15168018	20070615	RGD		mRNA:increased expression:subcutaneous adipose tissue	
1307384	Il21	interleukin 21	gene	DOID:0080158	herpes simplex virus keratitis	treatment	ISO	RGD:1316554	D	RGD:127285376|PMID:29370719	20210617	RGD			
1307384	Il21	interleukin 21	gene	DOID:0080158	herpes simplex virus keratitis	treatment	ISO	RGD:1316554	D	RGD:127285545|PMID:21204603	20210622	RGD			
1307384	Il21	interleukin 21	gene	DOID:0081153	common variable immunodeficiency 11		ISO	RGD:1316553	D	RGD:7240710	20160210	OMIM			
1307384	Il21	interleukin 21	gene	DOID:10608	celiac disease		ISO	RGD:1316553	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17558408
1307384	Il21	interleukin 21	gene	DOID:10608	celiac disease	susceptibility	ISO	RGD:1316553	D	RGD:127285362|PMID:22077623	20210617	RGD		protein:increased expression:blood serum (human)	
1307384	Il21	interleukin 21	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1316553	D	RGD:127285371|PMID:31414711	20210617	RGD		protein:decreased expression:blood serum (human)	
1307384	Il21	interleukin 21	gene	DOID:1205	allergic disease		ISO	RGD:1316553	D	RGD:632518365|PMID:29311948	20260223	RGD		associated with chronic rhinosinusitis with nasal polyps;protein:increased expression:mucosa of ethmoidal sinus	
1307384	Il21	interleukin 21	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1316553	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1307384	Il21	interleukin 21	gene	DOID:12206	dengue hemorrhagic fever	severity	ISO	RGD:1316553	D	RGD:127285368|PMID:24858204	20210617	RGD		protein:increased expression:blood serum (human)	
1307384	Il21	interleukin 21	gene	DOID:12365	malaria	exacerbates	ISO	RGD:1316554	D	RGD:127285358|PMID:25763578	20210617	RGD			
1307384	Il21	interleukin 21	gene	DOID:1909	melanoma	treatment	ISO	RGD:1316554	D	RGD:127285553|PMID:22477528	20210622	RGD			
1307384	Il21	interleukin 21	gene	DOID:2043	hepatitis B		ISO	RGD:1316554	D	RGD:127285375|PMID:29544722	20210617	RGD		mRNA:increased expression:spleen (C57BL/6N mouse)	
1307384	Il21	interleukin 21	gene	DOID:2048	autoimmune hepatitis	exacerbates	ISO	RGD:1316553	D	RGD:127285554|PMID:27386263	20210622	RGD		protein:increased expression:blood serum, peripheral blood mononuclear cell (human)	
1307384	Il21	interleukin 21	gene	DOID:234	colon adenocarcinoma	treatment	ISO	RGD:1316554	D	RGD:127285540|PMID:17695518	20210622	RGD			
1307384	Il21	interleukin 21	gene	DOID:2841	asthma		ISO	RGD:1316553	D	RGD:5147396|PMID:18802358	20110803	RGD		DNA:SNP:exon:5250C>T (human)	
1307384	Il21	interleukin 21	gene	DOID:2841	asthma		ISO	RGD:1316553	D	RGD:632517866|PMID:27931975	20260130	RGD		protein:increased expression:bronchial mucosa, nasal cavity mucosa	
1307384	Il21	interleukin 21	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis		ISO	RGD:1316553	D	RGD:127285561|PMID:28378248	20210622	RGD		protein:decreased expression:blood serum (human)	
1307384	Il21	interleukin 21	gene	DOID:3388	periodontal disease		IEP		D	RGD:5024938|PMID:20618701	20110803	RGD		mRNA:increased expression:lymph node, B cell	
1307384	Il21	interleukin 21	gene	DOID:3944	Arenaviridae infectious disease		ISO	RGD:1316554	D	RGD:127285543|PMID:21423809	20210622	RGD			
1307384	Il21	interleukin 21	gene	DOID:4270	encephalitozoonosis		ISO	RGD:1316554	D	RGD:11086452|PMID:26597007	20210622	RGD		protein:increased expression:CD4-positive helper T cell (mouse)	
1307384	Il21	interleukin 21	gene	DOID:4483	rhinitis		ISO	RGD:1316554	D	RGD:5147397|PMID:17982108	20110803	RGD			
1307384	Il21	interleukin 21	gene	DOID:5082	liver cirrhosis	exacerbates	ISO	RGD:1316553	D	RGD:127285546|PMID:24611989	20210622	RGD		associated with Chronic Hepatitis B;mRNA:increased expression: liver (human)	
1307384	Il21	interleukin 21	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1316553	D	RGD:127285366|PMID:22948268	20210617	RGD		associated with  hepatitis B;protein:decreased expression:blood serum (human)	
1307384	Il21	interleukin 21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316553	D	RGD:127285359|PMID:25892873	20210617	RGD		associated with hepatitis B;DNA:SNPS, haplotype:(rs13143866, rs2221903, rs907715) (human)	
1307384	Il21	interleukin 21	gene	DOID:8566	herpes simplex		ISO	RGD:1316554	D	RGD:127285372|PMID:16406655	20210617	RGD		mRNA:increased expression:spleen (mouse)	
1307384	Il21	interleukin 21	gene	DOID:8566	herpes simplex	treatment	ISO	RGD:1316554	D	RGD:127285367|PMID:19233474	20210617	RGD			
1307384	Il21	interleukin 21	gene	DOID:8704	genital herpes	treatment	ISO	RGD:1316554	D	RGD:127285365|PMID:24358128	20210617	RGD			
1307384	Il21	interleukin 21	gene	DOID:8869	neuromyelitis optica		ISO	RGD:1316553	D	RGD:127285589|PMID:23041403	20210622	RGD		protein:increased expression:cerebrospinal fluid (human)	
1307384	Il21	interleukin 21	gene	DOID:9000238	Acute-On-Chronic Liver Failure	ameliorates	ISO	RGD:1316553	D	RGD:127285541|PMID:21692955	20210622	RGD		associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human)	
1307384	Il21	interleukin 21	gene	DOID:9000371	influenza A		ISO	RGD:1316554	D	RGD:127285548|PMID:25251568	20210622	RGD			
1307384	Il21	interleukin 21	gene	DOID:9000469	Viral Myocarditis	treatment	ISO	RGD:1316554	D	RGD:127285552|PMID:25889760	20210622	RGD			
1307384	Il21	interleukin 21	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1316553	D	RGD:632518365|PMID:29311948	20260223	RGD		associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus, blood	
1307384	Il21	interleukin 21	gene	DOID:9001953	Pneumovirus Infections		ISO	RGD:1316554	D	RGD:6892925|PMID:22238461	20210622	RGD		mRNA:increased expression:lung (mouse)	
1307384	Il21	interleukin 21	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IDA		D	RGD:5147399|PMID:18997868	20110803	RGD			
1307384	Il21	interleukin 21	gene	DOID:9004017	Chronic Hepatitis C	ameliorates	ISO	RGD:1316553	D	RGD:127285373|PMID:24170093	20210617	RGD		protein:increased expression:liver, blood,  CD4-positive, alpha-beta T cell (human)	
1307384	Il21	interleukin 21	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1316553	D	RGD:127285550|PMID:23656167	20210622	RGD		associated with hepatitis B;DNA:SNPs, haplotype:intron, CDS:1472G>T, 5250C>T (rs2055979, rs4833837) (human)	
1307384	Il21	interleukin 21	gene	DOID:9005106	Animal Toxoplasmosis		ISO	RGD:1316554	D	RGD:127285360|PMID:23667536	20210617	RGD			
1307384	Il21	interleukin 21	gene	DOID:9007204	Dysbiosis	treatment	IEP		D	RGD:38549571|PMID:32227764	20200902	RGD			
1307384	Il21	interleukin 21	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1316553	D	RGD:632518365|PMID:29311948	20260206	RGD		protein:increased expression:blood	
1307384	Il21	interleukin 21	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1316553	D	RGD:127285542|PMID:17442980	20210622	RGD		mRNA, protein:increased expression:mucosa of stomach (human)	
1307384	Il21	interleukin 21	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1316554	D	RGD:127285544|PMID:31383743	20210622	RGD			
1307384	Il21	interleukin 21	gene	DOID:9008163	Chronic Hepatitis B	exacerbates	ISO	RGD:1316553	D	RGD:127285361|PMID:28500636	20210617	RGD		protein:decreased expression:blood serum (human)	
1307384	Il21	interleukin 21	gene	DOID:9008163	Chronic Hepatitis B	exacerbates	ISO	RGD:1316553	D	RGD:127285378|PMID:25243706	20210617	RGD		protein:increased expression:blood serum (human)	
1307384	Il21	interleukin 21	gene	DOID:9008163	Chronic Hepatitis B	susceptibility	ISO	RGD:1316553	D	RGD:127285353|PMID:23354321	20210617	RGD		DNA:SNP:intron: (rs2221903) (human)	
1307384	Il21	interleukin 21	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1316553	D	RGD:127285539|PMID:29879024	20210622	RGD		DNA:SNPs:introns: (rs2221903, rs907715) (human)	
1307384	Il21	interleukin 21	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1316553	D	RGD:127285549|PMID:26840345	20210622	RGD		associated with non-alcoholic fatty liver disease	
1307384	Il21	interleukin 21	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1316554	D	RGD:127285364|PMID:30260401	20210617	RGD			
1307384	Il21	interleukin 21	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1316554	D	RGD:127285369|PMID:32373234	20210617	RGD			
1307384	Il21	interleukin 21	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1316554	D	RGD:127285551|PMID:31281514	20210622	RGD			
1307384	Il21	interleukin 21	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1316553	D	RGD:127285377|PMID:28483840	20210617	RGD		protein:decreased expression:colorectum (human)	
1307384	Il21	interleukin 21	gene	DOID:9065	leishmaniasis	exacerbates	ISO	RGD:1316554	D	RGD:127285547|PMID:22429963	20210622	RGD		protein:increased expression:popliteal lymph node (mouse)	
1307384	Il21	interleukin 21	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1316553	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17911475
1307384	Il21	interleukin 21	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1316553	D	RGD:127285363|PMID:23236436	20210617	RGD		DNA:SNP:intron: (rs907715) (human)	
1307384	Il21	interleukin 21	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1316554	D	RGD:127285370|PMID:27300756	20210617	RGD		associated with Arenaviridae infectious disease	
1307384	Il21	interleukin 21	gene	DOID:9744	type 1 diabetes mellitus	treatment	ISO	RGD:1316554	D	RGD:127285590|PMID:28711285	20210622	RGD			
1307385	Hcfc2	host cell factor C2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307385	Hcfc2	host cell factor C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307385	Hcfc2	host cell factor C2	gene	DOID:10534	stomach cancer		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307385	Hcfc2	host cell factor C2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307385	Hcfc2	host cell factor C2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316555	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307385	Hcfc2	host cell factor C2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307385	Hcfc2	host cell factor C2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307385	Hcfc2	host cell factor C2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307385	Hcfc2	host cell factor C2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307386	Gem	GTP binding protein overexpressed in skeletal muscle	gene	DOID:1686	glaucoma		IEP		D	RGD:155630605|PMID:28990066	20221025	RGD		mRNA:decreased expression:optic nerve head (rat)	
1307386	Gem	GTP binding protein overexpressed in skeletal muscle	gene	DOID:1909	melanoma		ISO	RGD:1316557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307386	Gem	GTP binding protein overexpressed in skeletal muscle	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307386	Gem	GTP binding protein overexpressed in skeletal muscle	gene	DOID:6039	uveal melanoma		ISO	RGD:1316557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307386	Gem	GTP binding protein overexpressed in skeletal muscle	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307386	Gem	GTP binding protein overexpressed in skeletal muscle	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307386	Gem	GTP binding protein overexpressed in skeletal muscle	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307387	Nlrp10	NLR family, pyrin domain containing 10	gene	DOID:1909	melanoma		ISO	RGD:1316559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307389	Mbd3	methyl-CpG binding domain protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307389	Mbd3	methyl-CpG binding domain protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307389	Mbd3	methyl-CpG binding domain protein 3	gene	DOID:12849	autistic disorder		ISO	RGD:1316562	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19921286
1307389	Mbd3	methyl-CpG binding domain protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1316562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307389	Mbd3	methyl-CpG binding domain protein 3	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:9587846|PMID:12421618	20141021	RGD		mRNA:decreased expression:hippocampus	
1307389	Mbd3	methyl-CpG binding domain protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316562	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307389	Mbd3	methyl-CpG binding domain protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307389	Mbd3	methyl-CpG binding domain protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307389	Mbd3	methyl-CpG binding domain protein 3	gene	DOID:9007090	Experimental Seizures		IEP		D	RGD:9587847|PMID:12123686	20141021	RGD		mRNA:increased expression:hippocampus	
1307390	Ccdc61	coiled-coil domain containing 61	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2290511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307390	Ccdc61	coiled-coil domain containing 61	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2290511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307390	Ccdc61	coiled-coil domain containing 61	gene	DOID:10534	stomach cancer		ISO	RGD:2290511	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307390	Ccdc61	coiled-coil domain containing 61	gene	DOID:4362	cervical cancer		ISO	RGD:2290511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307390	Ccdc61	coiled-coil domain containing 61	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2290511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307390	Ccdc61	coiled-coil domain containing 61	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2290511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307390	Ccdc61	coiled-coil domain containing 61	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2290511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307390	Ccdc61	coiled-coil domain containing 61	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2290511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307390	Ccdc61	coiled-coil domain containing 61	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2290511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307392	Ift43	intraflagellar transport 43	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307392	Ift43	intraflagellar transport 43	gene	DOID:0050577	cranioectodermal dysplasia		ISO	RGD:1602079	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1307392	Ift43	intraflagellar transport 43	gene	DOID:0050581	brachydactyly		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532
1307392	Ift43	intraflagellar transport 43	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1602079	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532
1307392	Ift43	intraflagellar transport 43	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307392	Ift43	intraflagellar transport 43	gene	DOID:0080292	retinitis pigmentosa 81		ISO	RGD:1602079	D	RGD:7240710	20190315	OMIM			
1307392	Ift43	intraflagellar transport 43	gene	DOID:0080292	retinitis pigmentosa 81		ISO	RGD:1602079	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 81	PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532|PMID:28973684
1307392	Ift43	intraflagellar transport 43	gene	DOID:0080293	short-rib thoracic dysplasia 18 with polydactyly		ISO	RGD:1602079	D	RGD:7240710	20190315	OMIM			
1307392	Ift43	intraflagellar transport 43	gene	DOID:0080293	short-rib thoracic dysplasia 18 with polydactyly		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly	PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532
1307392	Ift43	intraflagellar transport 43	gene	DOID:0080805	cranioectodermal dysplasia 3		ISO	RGD:1602079	D	RGD:7240710	20140903	OMIM			
1307392	Ift43	intraflagellar transport 43	gene	DOID:0080805	cranioectodermal dysplasia 3		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cranioectodermal dysplasia 3	PMID:16199547|PMID:21378380|PMID:24027799|PMID:25741868|PMID:28400947|PMID:28492532|PMID:29896747
1307392	Ift43	intraflagellar transport 43	gene	DOID:10283	prostate cancer		ISO	RGD:1602079	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307392	Ift43	intraflagellar transport 43	gene	DOID:10283	prostate cancer		ISO	RGD:1602079	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307392	Ift43	intraflagellar transport 43	gene	DOID:10534	stomach cancer		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307392	Ift43	intraflagellar transport 43	gene	DOID:12215	oligohydramnios		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532
1307392	Ift43	intraflagellar transport 43	gene	DOID:1324	lung cancer		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307392	Ift43	intraflagellar transport 43	gene	DOID:3275	thymoma		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307392	Ift43	intraflagellar transport 43	gene	DOID:4362	cervical cancer		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307392	Ift43	intraflagellar transport 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307392	Ift43	intraflagellar transport 43	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532
1307392	Ift43	intraflagellar transport 43	gene	DOID:65	connective tissue disease		ISO	RGD:1602079	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease	PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532
1307392	Ift43	intraflagellar transport 43	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307392	Ift43	intraflagellar transport 43	gene	DOID:9256	colorectal cancer		ISO	RGD:1602079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307393	Wdr89	WD repeat domain 89	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307393	Wdr89	WD repeat domain 89	gene	DOID:1324	lung cancer		ISO	RGD:1316567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307393	Wdr89	WD repeat domain 89	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307394	Mfsd11	major facilitator superfamily domain containing 11	gene	DOID:10534	stomach cancer		ISO	RGD:1603960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307394	Mfsd11	major facilitator superfamily domain containing 11	gene	DOID:1115	sarcoma		ISO	RGD:1603960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307394	Mfsd11	major facilitator superfamily domain containing 11	gene	DOID:1324	lung cancer		ISO	RGD:1603960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307394	Mfsd11	major facilitator superfamily domain containing 11	gene	DOID:1909	melanoma		ISO	RGD:1603960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307394	Mfsd11	major facilitator superfamily domain containing 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307394	Mfsd11	major facilitator superfamily domain containing 11	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307394	Mfsd11	major facilitator superfamily domain containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1603960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307394	Mfsd11	major facilitator superfamily domain containing 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1603960	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307394	Mfsd11	major facilitator superfamily domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307394	Mfsd11	major facilitator superfamily domain containing 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307394	Mfsd11	major facilitator superfamily domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307394	Mfsd11	major facilitator superfamily domain containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307394	Mfsd11	major facilitator superfamily domain containing 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307395	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307395	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307395	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307395	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:1324	lung cancer		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307395	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307395	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307395	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307395	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307395	Pnisr	PNN interacting serine and arginine rich protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307399	Tmem230	transmembrane protein 230	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307399	Tmem230	transmembrane protein 230	gene	DOID:0060058	lymphoma		ISO	RGD:1316576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307399	Tmem230	transmembrane protein 230	gene	DOID:10283	prostate cancer		ISO	RGD:1316576	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307399	Tmem230	transmembrane protein 230	gene	DOID:10283	prostate cancer		ISO	RGD:1316576	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307399	Tmem230	transmembrane protein 230	gene	DOID:1115	sarcoma		ISO	RGD:1316576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307399	Tmem230	transmembrane protein 230	gene	DOID:14330	Parkinson's disease		ISO	RGD:1316576	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27270108
1307399	Tmem230	transmembrane protein 230	gene	DOID:4990	essential tremor		ISO	RGD:1316576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Essential tremor	
1307399	Tmem230	transmembrane protein 230	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307399	Tmem230	transmembrane protein 230	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307400	Cep97	centrosomal protein 97	gene	DOID:10534	stomach cancer		ISO	RGD:1343045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307400	Cep97	centrosomal protein 97	gene	DOID:1909	melanoma		ISO	RGD:1343045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307400	Cep97	centrosomal protein 97	gene	DOID:3070	high grade glioma		ISO	RGD:1343045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307400	Cep97	centrosomal protein 97	gene	DOID:4362	cervical cancer		ISO	RGD:1343045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307400	Cep97	centrosomal protein 97	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307400	Cep97	centrosomal protein 97	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343045	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:26539891
1307400	Cep97	centrosomal protein 97	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307401	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307401	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307401	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307401	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307401	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307401	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307401	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307401	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307401	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307401	Eepd1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307402	Slc23a3	solute carrier family 23, member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307402	Slc23a3	solute carrier family 23, member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1345783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307402	Slc23a3	solute carrier family 23, member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1345783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307402	Slc23a3	solute carrier family 23, member 3	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1345783	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1307402	Slc23a3	solute carrier family 23, member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1345783	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307402	Slc23a3	solute carrier family 23, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307402	Slc23a3	solute carrier family 23, member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307402	Slc23a3	solute carrier family 23, member 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307402	Slc23a3	solute carrier family 23, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307402	Slc23a3	solute carrier family 23, member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1348038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24571310
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:1316582	D	RGD:9491843|PMID:19585519	20140926	RGD		protein:increased expression:pancreatic acinar cell:	
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:1348038	D	RGD:9491843|PMID:19585519	20140926	RGD		protein:increased expression:exocrine pancreas:	
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1348038	D	RGD:1580058|PMID:14732230	19990101	RGD			
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1348038	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29429387
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:2913	acute pancreatitis		ISO	RGD:1316582	D	RGD:9491843|PMID:19585519	20140926	RGD		protein:increased expression:pancreatic acinar cell:	
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:3068	glioblastoma		ISO	RGD:1348038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19823589
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:3070	high grade glioma		ISO	RGD:1348038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23383216
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:3347	osteosarcoma		ISO	RGD:1348038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21311599
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1316582	D	RGD:9491843|PMID:19585519	20140926	RGD		protein:increased expression:pancreas	
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1348038	D	RGD:9491843|PMID:19585519	20140926	RGD		protein:increased expression:exocrine pancreas:	
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1348038	D	RGD:126781701|PMID:21165554	20210415	RGD			
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:5176	renal Wilms' tumor		ISO	RGD:1348038	D	RGD:155631277|PMID:18467665	20221031	RGD		human tumor in mouse model	
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1348038	D	RGD:14928318|PMID:26919246	20190916	RGD			
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:9000918	Disease Progression		ISO	RGD:1348038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24571310
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:9001865	Myeloid Leukemia, Accelerated Phase		ISO	RGD:1348038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24571310
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:9003204	Neovascularization, Pathologic		ISO	RGD:1348038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23383216
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:9004078	Pancreatic Intraepithelial Neoplasia		ISO	RGD:1316582	D	RGD:9491843|PMID:19585519	20140926	RGD		protein:increased expression:pancreatic acinar cell:	
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:9004078	Pancreatic Intraepithelial Neoplasia		ISO	RGD:1348038	D	RGD:9491843|PMID:19585519	20140926	RGD		protein:increased expression:exocrine pancreas:	
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1316582	D	RGD:155631277|PMID:18467665	20221031	RGD		mRNA:altered expression:kidney (mouse)	
1307403	Bmi1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348038	D	RGD:1580059|PMID:16105758	19990101	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307404	Serpinc1	serpin family C member 1	gene	DOID:0060903	thrombosis		ISO	RGD:1316583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:2133253|PMID:6889048|PMID:8967151|PMID:11132655
1307404	Serpinc1	serpin family C member 1	gene	DOID:0060903	thrombosis		ISO	RGD:1316583	D	RGD:1580119|PMID:12595305	19990101	RGD		DNA:missense mutation:cds:p.F229L (human)	
1307404	Serpinc1	serpin family C member 1	gene	DOID:0060903	thrombosis		ISO	RGD:1316583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombosis	PMID:25741868|PMID:34355501|PMID:35112923
1307404	Serpinc1	serpin family C member 1	gene	DOID:0060903	thrombosis	treatment	IDA		D	RGD:11035267|PMID:17293494	20160215	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:10159	osteonecrosis		ISO	RGD:1316583	D	RGD:30309948|PMID:16547717	20200624	RGD		associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human)	
1307404	Serpinc1	serpin family C member 1	gene	DOID:10159	osteonecrosis		ISO	RGD:1316583	D	RGD:30309951|PMID:16677567	20200622	RGD		associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human)	
1307404	Serpinc1	serpin family C member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307404	Serpinc1	serpin family C member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307404	Serpinc1	serpin family C member 1	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:1316583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:6233579|PMID:8810955|PMID:9637888
1307404	Serpinc1	serpin family C member 1	gene	DOID:11247	disseminated intravascular coagulation	treatment	ISO	RGD:1316583	D	RGD:11035251|PMID:2679067	20160212	RGD		associated with Endotoxemia	
1307404	Serpinc1	serpin family C member 1	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1316583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8810955
1307404	Serpinc1	serpin family C member 1	gene	DOID:1168	familial hyperlipidemia		IEP		D	RGD:11035268|PMID:17283885	20160215	RGD		protein:increased expression:plasma	
1307404	Serpinc1	serpin family C member 1	gene	DOID:1184	nephrotic syndrome		IEP		D	RGD:11035294|PMID:7532794	20160216	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1316583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11304663
1307404	Serpinc1	serpin family C member 1	gene	DOID:1184	nephrotic syndrome	disease_progression	ISO	RGD:1316583	D	RGD:11038563|PMID:8979144	20160218	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:1247	blood coagulation disease		ISO	RGD:1316583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:62897
1307404	Serpinc1	serpin family C member 1	gene	DOID:1247	blood coagulation disease		ISO	RGD:1316583	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:17849067|PMID:20088933|PMID:21264449|PMID:21325262|PMID:2363123|PMID:24162787|PMID:25741868|PMID:25837307|PMID:2615648|PMID:26748602|PMID:28300866|PMID:28492532|PMID:28607330|PMID:29153735|PMID:30721820|PMID:31064749|PMID:31885188|PMID:34800304|PMID:35626216|PMID:3567355|PMID:37201530|PMID:6582486|PMID:7981186
1307404	Serpinc1	serpin family C member 1	gene	DOID:1324	lung cancer		ISO	RGD:1316583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307404	Serpinc1	serpin family C member 1	gene	DOID:14115	toxic shock syndrome	treatment	ISO	RGD:1316583	D	RGD:1599323|PMID:16732381	20070130	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:1936	atherosclerosis		ISO	RGD:1316583	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atherosclerosis	PMID:17849067|PMID:20088933|PMID:21264449|PMID:21325262|PMID:2363123|PMID:24162787|PMID:25741868|PMID:25837307|PMID:2615648|PMID:26748602|PMID:28300866|PMID:28492532|PMID:28607330|PMID:29153735|PMID:30721820|PMID:31064749|PMID:31885188|PMID:34800304|PMID:35626216|PMID:3567355|PMID:37201530|PMID:6582486|PMID:7981186
1307404	Serpinc1	serpin family C member 1	gene	DOID:2394	ovarian cancer		IEP		D	RGD:11035257|PMID:22818854	20160212	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1316583	D	RGD:11354006|PMID:26108065	20170310	RGD		associated with heart failure; protein:decreased activity:plasma:	
1307404	Serpinc1	serpin family C member 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307404	Serpinc1	serpin family C member 1	gene	DOID:3755	antithrombin III deficiency		ISO	RGD:1316583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:6435583
1307404	Serpinc1	serpin family C member 1	gene	DOID:3755	antithrombin III deficiency		ISO	RGD:1316583	D	RGD:7240710	20130221	OMIM			
1307404	Serpinc1	serpin family C member 1	gene	DOID:3755	antithrombin III deficiency		ISO	RGD:1316583	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Antithrombin III deficiency | ClinVar Annotator: match by term: Hereditary antithrombin deficiency | ClinVar Annotator: match by term: Reduced antithrombin III activity | ClinVar Annotator: match by term: SERPINC1-related disorder | ClinVar Annotator: match by term: THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY | ClinVar Annotator: match by term: thrombophilia due to antithrombin III deficiency	PMID:10077734|PMID:10966821|PMID:10997988|PMID:11192751|PMID:11307839|PMID:11686319|PMID:12894857|PMID:1430264|PMID:1469094|PMID:14754620|PMID:15164384|PMID:1551681|PMID:15630491|PMID:16199547|PMID:16268490|PMID:16411389|PMID:16620552|PMID:16705712|PMID:16956830|PMID:16973611|PMID:17492649|PMID:17576681|PMID:17849067|PMID:18480576|PMID:18954896|PMID:20088933|PMID:21264449|PMID:21325262|PMID:22234719|PMID:22398878|PMID:22481271|PMID:22627591|PMID:23358206|PMID:2363123|PMID:23809926|PMID:23910795|PMID:24121110|PMID:24162787|PMID:24196373|PMID:24613695|PMID:24684277|PMID:24814625|PMID:25298121|PMID:25312341|PMID:25466846|PMID:25496998|PMID:25522812|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25837307|PMID:2602168|PMID:2615648|PMID:26748602|PMID:27003919|PMID:27098529|PMID:27283015|PMID:27749296|PMID:27838551|PMID:28166811|PMID:28174134|PMID:28229161|PMID:28300866|PMID:28317092|PMID:28492532|PMID:28607330|PMID:28743742|PMID:29071478|PMID:29137435|PMID:29153735|PMID:29296762|PMID:29662868|PMID:29902631|PMID:30046692|PMID:30237862|PMID:30721820|PMID:30975910|PMID:31030036|PMID:31064749|PMID:31157679|PMID:3141397|PMID:3179448|PMID:31885188|PMID:3191114|PMID:32151802|PMID:32920809|PMID:33367661|PMID:33401890|PMID:33725558|PMID:34355501|PMID:34800304|PMID:3512602|PMID:35218943|PMID:35486842|PMID:35626216|PMID:3563966|PMID:3567355|PMID:35720094|PMID:36119085|PMID:36214221|PMID:36268972|PMID:36764659|PMID:37201530|PMID:37607435|PMID:37647632|PMID:37976729|PMID:38474138|PMID:40339963|PMID:4049307|PMID:6582486|PMID:7734360|PMID:7863481|PMID:7947234|PMID:7949130|PMID:7981186|PMID:7989582|PMID:8217824|PMID:8274732|PMID:8401542|PMID:8486379|PMID:9031473|PMID:9536098|PMID:9759613
1307404	Serpinc1	serpin family C member 1	gene	DOID:3755	antithrombin III deficiency		ISS	RGD:1316584	D	RGD:13592920	20230718	MouseDO		OMIM:613118	
1307404	Serpinc1	serpin family C member 1	gene	DOID:3755	antithrombin III deficiency	susceptibility	ISO	RGD:1316583	D	RGD:1599321|PMID:3162535	20070130	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:4193	intracranial thrombosis		ISO	RGD:1316583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:6636041
1307404	Serpinc1	serpin family C member 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1316583	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:17849067|PMID:20088933|PMID:21264449|PMID:21325262|PMID:2363123|PMID:24162787|PMID:25741868|PMID:25837307|PMID:2615648|PMID:26748602|PMID:28300866|PMID:28492532|PMID:28607330|PMID:29153735|PMID:30721820|PMID:31064749|PMID:31885188|PMID:34800304|PMID:35626216|PMID:3567355|PMID:37201530|PMID:6582486|PMID:7981186
1307404	Serpinc1	serpin family C member 1	gene	DOID:630	genetic disease		ISO	RGD:1316583	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307404	Serpinc1	serpin family C member 1	gene	DOID:8805	intermediate coronary syndrome	treatment	ISO	RGD:1316583	D	RGD:11035255|PMID:8122184	20160212	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1316583	D	RGD:1599333|PMID:15792522	20070130	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1316584	D	RGD:1599327|PMID:16440418	20160212	RGD		associated with Melanoma	
1307404	Serpinc1	serpin family C member 1	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:1316583	D	RGD:1599327|PMID:16440418	20070130	RGD		associated with Adenocarcinoma, Colon	
1307404	Serpinc1	serpin family C member 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1316583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:21534203
1307404	Serpinc1	serpin family C member 1	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:1316583	D	RGD:1599330|PMID:16124052	20070130	RGD		associated with Inflammatory Bowel Diseases	
1307404	Serpinc1	serpin family C member 1	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1316583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:7923645
1307404	Serpinc1	serpin family C member 1	gene	DOID:9002159	Liver Reperfusion Injury	treatment	IEP		D	RGD:10450597|PMID:24726586	20160212	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:1316583	D	RGD:11038771|PMID:8589354	20160224	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9002457	Experimental Arthritis		IEP		D	RGD:11035273|PMID:22781611	20160215	RGD		protein:decreased expression:plasma	
1307404	Serpinc1	serpin family C member 1	gene	DOID:9002488	Peritoneal Fibrosis	treatment	ISO	RGD:1316583	D	RGD:11035266|PMID:18458955	20160215	RGD		associated with Peritonitis	
1307404	Serpinc1	serpin family C member 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1316583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:6636041
1307404	Serpinc1	serpin family C member 1	gene	DOID:9002906	Multiple Organ Failure	disease_progression	ISO	RGD:1316583	D	RGD:11035250|PMID:9630308	20160212	RGD		associated with Disseminated Intravascular Coagulation	
1307404	Serpinc1	serpin family C member 1	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:1316583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:453287
1307404	Serpinc1	serpin family C member 1	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1316583	D	RGD:11035248|PMID:23932013	20160212	RGD		DNA:missense mutations: :multiple	
1307404	Serpinc1	serpin family C member 1	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1316583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:55783|PMID:6435583|PMID:8810955
1307404	Serpinc1	serpin family C member 1	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1316583	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deep vein thrombosis	PMID:25741868
1307404	Serpinc1	serpin family C member 1	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1316584	D	RGD:11035247|PMID:23550037	20160212	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1316583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:4089794
1307404	Serpinc1	serpin family C member 1	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:1316583	D	RGD:11035263|PMID:22563168	20160215	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1316583	D	RGD:11035256|PMID:17940748	20160212	RGD		associated with Endotoxemia	
1307404	Serpinc1	serpin family C member 1	gene	DOID:9004649	Heat Stroke	treatment	ISO	RGD:1316583	D	RGD:10402179|PMID:20047080	20160212	RGD		associated with Inflammation	
1307404	Serpinc1	serpin family C member 1	gene	DOID:9005036	Bacteremia	treatment	ISO	RGD:1316583	D	RGD:11035251|PMID:2679067	20160212	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9005372	Inflammation		IEP		D	RGD:11035259|PMID:17850787	20160212	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9005372	Inflammation	treatment	ISO	RGD:1316583	D	RGD:1599331|PMID:16095456	20070130	RGD		associated with Reperfusion Injury	
1307404	Serpinc1	serpin family C member 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	IDA		D	RGD:11035271|PMID:22309505	20160215	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	IEP		D	RGD:11035293|PMID:24671746	20160216	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9005930	Endotoxemia		IDA		D	RGD:5147765|PMID:21396682	20120322	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9005930	Endotoxemia		IDA		D	RGD:5147779|PMID:20519137	20120322	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9005930	Endotoxemia		IEP		D	RGD:1599332|PMID:15995859	20070130	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:1316583	D	RGD:1599326|PMID:16457847	20070130	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9006223	Kidney Reperfusion Injury		IMP		D	RGD:11354006|PMID:26108065	20201210	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9006223	Kidney Reperfusion Injury	severity	IMP		D	RGD:11354006|PMID:26108065	20170313	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9007558	Acute Experimental Pancreatitis	treatment	ISO	RGD:1316583	D	RGD:11035262|PMID:19546838	20160215	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9007621	Craniocerebral Trauma		ISO	RGD:1316583	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8810955
1307404	Serpinc1	serpin family C member 1	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	IEP		D	RGD:11035258|PMID:21046505	20160212	RGD			
1307404	Serpinc1	serpin family C member 1	gene	DOID:9008217	Hemorrhage		ISO	RGD:1316583	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: bleeding	PMID:1483705|PMID:1977621|PMID:23910795|PMID:25741868|PMID:25772935|PMID:27098529|PMID:27975105|PMID:28229161|PMID:28492532|PMID:28607330|PMID:31064749|PMID:3472589|PMID:34800304|PMID:35112923|PMID:8401542
1307404	Serpinc1	serpin family C member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307404	Serpinc1	serpin family C member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1316583	D	RGD:2312416|PMID:7974333	20090811	RGD		protein:increased activity:plasma (human)	
1307404	Serpinc1	serpin family C member 1	gene	DOID:9477	pulmonary embolism		ISO	RGD:1316583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary Embolism | ClinVar Annotator: match by term: Pulmonary embolism | ClinVar Annotator: match by term: pulmonary embolism	PMID:25741868|PMID:28492532|PMID:31064749
1307405	Septin11	septin 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307405	Septin11	septin 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307405	Septin11	septin 11	gene	DOID:0050950	autosomal recessive cerebellar ataxia		ISO	RGD:1349067	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia	PMID:25741868
1307405	Septin11	septin 11	gene	DOID:10534	stomach cancer		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307405	Septin11	septin 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307405	Septin11	septin 11	gene	DOID:1324	lung cancer		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307405	Septin11	septin 11	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1349067	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16823967
1307405	Septin11	septin 11	gene	DOID:3275	thymoma		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307405	Septin11	septin 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307405	Septin11	septin 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:0050156	idiopathic pulmonary fibrosis	severity	ISO	RGD:1316586	D	RGD:629006541|PMID:34790776	20251104	RGD		mRNA:increased expression:respiratory bronchiole	
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:2773	contact dermatitis		ISO	RGD:1316586	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:2841	asthma		ISO	RGD:1316586	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21150878
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:2841	asthma		ISO	RGD:1316586	D	RGD:5144240|PMID:21150878	20260202	RGD		DNA:SNP:intron:rs31263	
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:289	endometriosis		ISO	RGD:1316586	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:303	substance-related disorder		ISO	RGD:1316586	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:5082	liver cirrhosis		ISO	RGD:1316586	D	RGD:11554173	20210707	CTD		CTD Direct Evidence: marker/mechanism	PMID:33069761
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316586	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1316586	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:20562917
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1316586	D	RGD:11554173	20240702	CTD		CTD Direct Evidence: marker/mechanism	PMID:38614205
1307406	Cxcl14	C-X-C motif chemokine ligand 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307407	Dazap2	DAZ associated protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307407	Dazap2	DAZ associated protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307407	Dazap2	DAZ associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307407	Dazap2	DAZ associated protein 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1307407	Dazap2	DAZ associated protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307408	Zbtb46	zinc finger and BTB domain containing 46	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307408	Zbtb46	zinc finger and BTB domain containing 46	gene	DOID:0060645	chronic recurrent multifocal osteomyelitis		ISO	RGD:1345627	D	RGD:8554872	20171205	ClinVar		ClinVar Annotator: match by term: Chronic osteomyelitis	
1307408	Zbtb46	zinc finger and BTB domain containing 46	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1345627	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
1307408	Zbtb46	zinc finger and BTB domain containing 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307408	Zbtb46	zinc finger and BTB domain containing 46	gene	DOID:9003566	Mesothelioma		ISO	RGD:1345627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307408	Zbtb46	zinc finger and BTB domain containing 46	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1345627	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1307409	Rfpl4a	ret finger protein-like 4A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307409	Rfpl4a	ret finger protein-like 4A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307410	Tepsin	TEPSIN, adaptor related protein complex 4 accessory protein	gene	DOID:1909	melanoma		ISO	RGD:1601823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307410	Tepsin	TEPSIN, adaptor related protein complex 4 accessory protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307410	Tepsin	TEPSIN, adaptor related protein complex 4 accessory protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307410	Tepsin	TEPSIN, adaptor related protein complex 4 accessory protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307411	Rbm18	RNA binding motif protein 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307411	Rbm18	RNA binding motif protein 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307411	Rbm18	RNA binding motif protein 18	gene	DOID:3275	thymoma		ISO	RGD:1316593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307411	Rbm18	RNA binding motif protein 18	gene	DOID:4362	cervical cancer		ISO	RGD:1316593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307411	Rbm18	RNA binding motif protein 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1316593	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307411	Rbm18	RNA binding motif protein 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307411	Rbm18	RNA binding motif protein 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307411	Rbm18	RNA binding motif protein 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307413	Metap1d	methionyl aminopeptidase type 1D (mitochondrial)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307413	Metap1d	methionyl aminopeptidase type 1D (mitochondrial)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307413	Metap1d	methionyl aminopeptidase type 1D (mitochondrial)	gene	DOID:10534	stomach cancer		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
1307413	Metap1d	methionyl aminopeptidase type 1D (mitochondrial)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307413	Metap1d	methionyl aminopeptidase type 1D (mitochondrial)	gene	DOID:1115	sarcoma		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307413	Metap1d	methionyl aminopeptidase type 1D (mitochondrial)	gene	DOID:1324	lung cancer		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307413	Metap1d	methionyl aminopeptidase type 1D (mitochondrial)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307413	Metap1d	methionyl aminopeptidase type 1D (mitochondrial)	gene	DOID:3275	thymoma		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307413	Metap1d	methionyl aminopeptidase type 1D (mitochondrial)	gene	DOID:4362	cervical cancer		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307413	Metap1d	methionyl aminopeptidase type 1D (mitochondrial)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307413	Metap1d	methionyl aminopeptidase type 1D (mitochondrial)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307413	Metap1d	methionyl aminopeptidase type 1D (mitochondrial)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307414	Lgalsl	galectin-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307414	Lgalsl	galectin-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307414	Lgalsl	galectin-like	gene	DOID:10534	stomach cancer		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307414	Lgalsl	galectin-like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606012	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307414	Lgalsl	galectin-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307414	Lgalsl	galectin-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307415	Dusp14	dual specificity phosphatase 14	gene	DOID:2957	pulmonary tuberculosis	onset	ISO	RGD:1316598	D	RGD:628360904|PMID:26938665	20251002	RGD		DNA:SNP:exon:rs1051838	
1307415	Dusp14	dual specificity phosphatase 14	gene	DOID:3070	high grade glioma		ISO	RGD:1316598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307415	Dusp14	dual specificity phosphatase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307415	Dusp14	dual specificity phosphatase 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307416	Snrpa	small nuclear ribonucleoprotein polypeptide A	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1316600	D	RGD:10448959|PMID:24023061	20151209	RGD		protein:increased expression:cerebral cortex (human)	
1307416	Snrpa	small nuclear ribonucleoprotein polypeptide A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307416	Snrpa	small nuclear ribonucleoprotein polypeptide A	gene	DOID:1909	melanoma		ISO	RGD:1316600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307416	Snrpa	small nuclear ribonucleoprotein polypeptide A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307416	Snrpa	small nuclear ribonucleoprotein polypeptide A	gene	DOID:3275	thymoma		ISO	RGD:1316600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307416	Snrpa	small nuclear ribonucleoprotein polypeptide A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307416	Snrpa	small nuclear ribonucleoprotein polypeptide A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307416	Snrpa	small nuclear ribonucleoprotein polypeptide A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307416	Snrpa	small nuclear ribonucleoprotein polypeptide A	gene	DOID:65	connective tissue disease		ISO	RGD:1316600	D	RGD:10448928|PMID:2968364	20160202	RGD			
1307417	Cstl1	cystatin-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307417	Cstl1	cystatin-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307417	Cstl1	cystatin-like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1316602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307418	Ces4a	carboxylesterase 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307418	Ces4a	carboxylesterase 4A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307418	Ces4a	carboxylesterase 4A	gene	DOID:1324	lung cancer		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307418	Ces4a	carboxylesterase 4A	gene	DOID:1909	melanoma		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307418	Ces4a	carboxylesterase 4A	gene	DOID:3275	thymoma		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307418	Ces4a	carboxylesterase 4A	gene	DOID:4362	cervical cancer		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307418	Ces4a	carboxylesterase 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307418	Ces4a	carboxylesterase 4A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307419	Nek3	NIMA-related kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307419	Nek3	NIMA-related kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316605	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307419	Nek3	NIMA-related kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307419	Nek3	NIMA-related kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307419	Nek3	NIMA-related kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307419	Nek3	NIMA-related kinase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307419	Nek3	NIMA-related kinase 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
1307419	Nek3	NIMA-related kinase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307419	Nek3	NIMA-related kinase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307419	Nek3	NIMA-related kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307419	Nek3	NIMA-related kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307419	Nek3	NIMA-related kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307419	Nek3	NIMA-related kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307419	Nek3	NIMA-related kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307420	Plxnc1	plexin C1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307420	Plxnc1	plexin C1	gene	DOID:10534	stomach cancer		ISO	RGD:1316607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307420	Plxnc1	plexin C1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307420	Plxnc1	plexin C1	gene	DOID:1115	sarcoma		ISO	RGD:1316607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307420	Plxnc1	plexin C1	gene	DOID:1324	lung cancer		ISO	RGD:1316607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307420	Plxnc1	plexin C1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307420	Plxnc1	plexin C1	gene	DOID:289	endometriosis		ISO	RGD:1316607	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1307420	Plxnc1	plexin C1	gene	DOID:3275	thymoma		ISO	RGD:1316607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307420	Plxnc1	plexin C1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307420	Plxnc1	plexin C1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307420	Plxnc1	plexin C1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316607	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307420	Plxnc1	plexin C1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307420	Plxnc1	plexin C1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307420	Plxnc1	plexin C1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307421	Foxi1	forkhead box I1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307421	Foxi1	forkhead box I1	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1316609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	
1307421	Foxi1	forkhead box I1	gene	DOID:0060744	Pendred syndrome		ISO	RGD:1316609	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1307421	Foxi1	forkhead box I1	gene	DOID:0060744	Pendred syndrome		ISO	RGD:1316609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome	PMID:25741868|PMID:28492532
1307421	Foxi1	forkhead box I1	gene	DOID:0060744	Pendred syndrome		ISS	RGD:1316610	D	RGD:13592920	20230718	MouseDO		OMIM:274600	
1307421	Foxi1	forkhead box I1	gene	DOID:0110498	autosomal recessive nonsyndromic deafness 4		ISO	RGD:1316609	D	RGD:7240710	20130221	OMIM			
1307421	Foxi1	forkhead box I1	gene	DOID:0110498	autosomal recessive nonsyndromic deafness 4		ISO	RGD:1316609	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT | ClinVar Annotator: match by term: FOXI1-related condition	PMID:20809947|PMID:25741868|PMID:26467025|PMID:28492532
1307421	Foxi1	forkhead box I1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1316609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1307421	Foxi1	forkhead box I1	gene	DOID:1115	sarcoma		ISO	RGD:1316609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307421	Foxi1	forkhead box I1	gene	DOID:4362	cervical cancer		ISO	RGD:1316609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307421	Foxi1	forkhead box I1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316609	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:30311386
1307421	Foxi1	forkhead box I1	gene	DOID:9007406	Distal Renal Tubular Acidosis		ISO	RGD:1316609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal renal tubular acidosis	
1307421	Foxi1	forkhead box I1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1316609	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
1307423	Tmem97	transmembrane protein 97	gene	DOID:10534	stomach cancer		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307423	Tmem97	transmembrane protein 97	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307423	Tmem97	transmembrane protein 97	gene	DOID:1909	melanoma		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307423	Tmem97	transmembrane protein 97	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307423	Tmem97	transmembrane protein 97	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307424	Irx3	iroquois homeobox 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307424	Irx3	iroquois homeobox 3	gene	DOID:1324	lung cancer		ISO	RGD:1316613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307424	Irx3	iroquois homeobox 3	gene	DOID:3275	thymoma		ISO	RGD:1316613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307424	Irx3	iroquois homeobox 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316613	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307424	Irx3	iroquois homeobox 3	gene	DOID:850	lung disease		ISO	RGD:1316613	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21238641
1307425	Srsf7	serine and arginine rich splicing factor 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307425	Srsf7	serine and arginine rich splicing factor 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307425	Srsf7	serine and arginine rich splicing factor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1316615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307425	Srsf7	serine and arginine rich splicing factor 7	gene	DOID:1324	lung cancer		ISO	RGD:1316615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307425	Srsf7	serine and arginine rich splicing factor 7	gene	DOID:1909	melanoma		ISO	RGD:1316615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307425	Srsf7	serine and arginine rich splicing factor 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307425	Srsf7	serine and arginine rich splicing factor 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316615	D	RGD:11039407|PMID:21082031	20160303	RGD		mRNA:altered expression:kidney (human)	
1307425	Srsf7	serine and arginine rich splicing factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307425	Srsf7	serine and arginine rich splicing factor 7	gene	DOID:9002179	Glomerular Hyperfiltration		ISO	RGD:1316616	D	RGD:1299473|PMID:10432394	20160307	RGD		mRNA:increased expression:kidney (mouse)	
1307425	Srsf7	serine and arginine rich splicing factor 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307426	Dnajc5g	DnaJ heat shock protein family (Hsp40) member C5 gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1316617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307426	Dnajc5g	DnaJ heat shock protein family (Hsp40) member C5 gamma	gene	DOID:1324	lung cancer		ISO	RGD:1316617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307426	Dnajc5g	DnaJ heat shock protein family (Hsp40) member C5 gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1316618	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:25741868|PMID:28492532|PMID:29892087
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1316618	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:20590677|PMID:22004663|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29773157|PMID:30847666|PMID:30871351|PMID:31983221|PMID:32826072|PMID:36578016|PMID:38288598|PMID:38510713|PMID:39844436|PMID:40339755
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:0050820	atrioventricular block		ISO	RGD:1316618	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Atrioventricular Block	PMID:25741868|PMID:28492532|PMID:30847666
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1316618	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:0060224	atrial fibrillation		ISS	RGD:1616733	D	RGD:13592920	20230718	MouseDO			
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1316618	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1316618	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25741868|PMID:27496873|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29369293|PMID:29650543|PMID:29895960|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32187365|PMID:32840935|PMID:32969603|PMID:34575212
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:0110443	dilated cardiomyopathy 1B		ISO	RGD:1316618	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial	PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:24033266|PMID:24503780|PMID:26084686|PMID:26604136|PMID:27105042|PMID:28492532|PMID:29343803|PMID:30871348|PMID:35653365
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:0110447	dilated cardiomyopathy 1DD		ISO	RGD:1316618	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:0110447	dilated cardiomyopathy 1DD		ISO	RGD:1316618	D	RGD:7240710	20130425	OMIM			
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:0110447	dilated cardiomyopathy 1DD		ISO	RGD:1316618	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD | ClinVar Annotator: match by term: RBM20-related condition	PMID:16199547|PMID:17576681|PMID:19712804|PMID:20590677|PMID:21483645|PMID:21846512|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25351510|PMID:25448463|PMID:25741868|PMID:26084686|PMID:26383259|PMID:26458567|PMID:26604136|PMID:26688388|PMID:27105042|PMID:27296017|PMID:27496873|PMID:27532257|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28407228|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28767663|PMID:28798025|PMID:28818208|PMID:29029073|PMID:29247119|PMID:29253866|PMID:29343803|PMID:29367541|PMID:29369293|PMID:29447731|PMID:29540472|PMID:29650543|PMID:29773157|PMID:29892087|PMID:29895960|PMID:29970176|PMID:29988065|PMID:30050558|PMID:30165862|PMID:30471092|PMID:30487145|PMID:30547036|PMID:30557877|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31333075|PMID:31419596|PMID:31514951|PMID:31568572|PMID:31583969|PMID:31737537|PMID:31785789|PMID:31918855|PMID:31931689|PMID:31983221|PMID:32187365|PMID:32746448|PMID:32789579|PMID:32789749|PMID:32826072|PMID:32840935|PMID:32851336|PMID:32880476|PMID:32905764|PMID:32969603|PMID:33019804|PMID:33029862|PMID:33188278|PMID:33232181|PMID:33450993|PMID:33500567|PMID:33552729|PMID:33671899|PMID:33789662|PMID:33906374|PMID:33941202|PMID:33954932|PMID:33996946|PMID:34088380|PMID:34174465|PMID:34194005|PMID:34201072|PMID:34244519|PMID:34333030|PMID:34575212|PMID:34731013|PMID:34732726|PMID:34935411|PMID:35181673|PMID:35216067|PMID:35284542|PMID:35288587|PMID:35352813|PMID:35527250|PMID:35653365|PMID:35817949|PMID:36178741|PMID:36198914|PMID:36303204|PMID:36367695|PMID:36396199|PMID:36417486|PMID:36578016|PMID:36788754|PMID:36975868|PMID:37349314|PMID:37461109|PMID:37463913|PMID:37477868|PMID:37652022|PMID:37767697|PMID:37904629|PMID:38288598|PMID:38398418|PMID:38510713|PMID:38813989|PMID:39020067|PMID:39068400|PMID:39482628|PMID:39844436|PMID:40339755|PMID:40778137|PMID:9536098
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:0110447	dilated cardiomyopathy 1DD		ISS	RGD:1616733	D	RGD:13592920	20230718	MouseDO		OMIM:613172	
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:0110454	dilated cardiomyopathy 1S		ISO	RGD:1316618	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1S	PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25741868|PMID:27496873|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29369293|PMID:29650543|PMID:29895960|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32187365|PMID:32840935|PMID:32969603|PMID:34575212
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:10908	hydrocephalus		ISO	RGD:1316618	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25741868|PMID:27496873|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29369293|PMID:29650543|PMID:29895960|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32187365|PMID:32840935|PMID:32969603|PMID:34575212
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:1115	sarcoma		ISO	RGD:1316618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1316618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:25741868|PMID:28492532
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1316618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:24033266|PMID:25741868|PMID:27650965|PMID:28492532|PMID:29650543|PMID:29895960|PMID:30847666|PMID:30871348|PMID:32187365|PMID:32840935
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1316618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316618	D	RGD:7241566|PMID:22466703	20240925	RGD			
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316618	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29540472|PMID:29650543|PMID:30012837|PMID:30871348|PMID:30871351|PMID:31333075|PMID:31568572|PMID:32789749|PMID:32880476
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316618	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29540472|PMID:29650543|PMID:30012837|PMID:30871348|PMID:30871351|PMID:31333075|PMID:31568572|PMID:32789749|PMID:32880476|PMID:34540771
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316618	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29253866|PMID:29367541|PMID:29540472|PMID:29650543|PMID:29895960|PMID:30012837|PMID:30165862|PMID:30487145|PMID:30547036|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31317183|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32789749|PMID:32840935|PMID:32880476|PMID:32969603|PMID:33134301|PMID:33662488|PMID:34174465|PMID:34540771|PMID:35817949
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316618	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27105042|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29253866|PMID:29343803|PMID:29367541|PMID:29447731|PMID:29540472|PMID:29650543|PMID:29895960|PMID:30012837|PMID:30165862|PMID:30487145|PMID:30547036|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31317183|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32789749|PMID:32840935|PMID:32880476|PMID:32969603|PMID:33134301|PMID:33662488|PMID:34174465|PMID:34540771|PMID:35113650|PMID:35653365|PMID:35817949
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316618	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25741904|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27105042|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29253866|PMID:29343803|PMID:29367541|PMID:29447731|PMID:29540472|PMID:29650543|PMID:29895960|PMID:30012837|PMID:30165862|PMID:30487145|PMID:30547036|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31317183|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32789749|PMID:32840935|PMID:32880476|PMID:32969603|PMID:33134301|PMID:33662488|PMID:34174465|PMID:34540771|PMID:35113650|PMID:35653365|PMID:35817949
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316618	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23299917|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25741904|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27105042|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29253866|PMID:29343803|PMID:29367541|PMID:29447731|PMID:29540472|PMID:29650543|PMID:29895960|PMID:30012837|PMID:30165862|PMID:30487145|PMID:30547036|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31317183|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32789749|PMID:32840935|PMID:32880476|PMID:32969603|PMID:33134301|PMID:33662488|PMID:34036930|PMID:34174465|PMID:34540771|PMID:35113650|PMID:35653365|PMID:35817949|PMID:39481677
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316618	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23299917|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25741904|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27105042|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29253866|PMID:29343803|PMID:29367541|PMID:29447731|PMID:29540472|PMID:29650543|PMID:29895960|PMID:30012837|PMID:30165862|PMID:30471092|PMID:30487145|PMID:30547036|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31317183|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32789749|PMID:32840935|PMID:32851336|PMID:32880476|PMID:32969603|PMID:33019804|PMID:33134301|PMID:33500567|PMID:33662488|PMID:33906374|PMID:34036930|PMID:34088380|PMID:34174465|PMID:34540771|PMID:35113650|PMID:35181673|PMID:35288587|PMID:35527250|PMID:35653365|PMID:35817949|PMID:36367695|PMID:36396199|PMID:37652022|PMID:39481677
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316618	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23299917|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25741904|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27105042|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29253866|PMID:29343803|PMID:29367541|PMID:29447731|PMID:29540472|PMID:29650543|PMID:29895960|PMID:30012837|PMID:30165862|PMID:30471092|PMID:30487145|PMID:30547036|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31317183|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32789749|PMID:32840935|PMID:32851336|PMID:32880476|PMID:32969603|PMID:33019804|PMID:33134301|PMID:33500567|PMID:33662488|PMID:33906374|PMID:34036930|PMID:34088380|PMID:34174465|PMID:34540771|PMID:35113650|PMID:35181673|PMID:35288587|PMID:35527250|PMID:35653365|PMID:35817949|PMID:36367695|PMID:36396199|PMID:37463913|PMID:37652022|PMID:39481677
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316618	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25741868|PMID:25741904|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27105042|PMID:27496873|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29253866|PMID:29343803|PMID:29367541|PMID:29369293|PMID:29650543|PMID:29895960|PMID:30012837|PMID:30165862|PMID:30487145|PMID:30847666|PMID:30871348|PMID:30871351|PMID:31317183|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32789579|PMID:32789749|PMID:32840935|PMID:32905764|PMID:32969603|PMID:33662488|PMID:33671899|PMID:34174465|PMID:34244519|PMID:34575212|PMID:35653365|PMID:36367695|PMID:36975868|PMID:37349314|PMID:37463913|PMID:37652022|PMID:38288598|PMID:38510713|PMID:40339755
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316618	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25351510|PMID:25637381|PMID:25741868|PMID:25741904|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27105042|PMID:27496873|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29253866|PMID:29343803|PMID:29367541|PMID:29369293|PMID:29650543|PMID:29895960|PMID:30012837|PMID:30165862|PMID:30487145|PMID:30847666|PMID:30871348|PMID:30871351|PMID:31317183|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32789579|PMID:32789749|PMID:32840935|PMID:32905764|PMID:32969603|PMID:33662488|PMID:33671899|PMID:34174465|PMID:34244519|PMID:34575212|PMID:35653365|PMID:36367695|PMID:36975868|PMID:37349314|PMID:37463913|PMID:37652022|PMID:38288598|PMID:38510713|PMID:40339755
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:12930	dilated cardiomyopathy	severity	ISO	RGD:1316618	D	RGD:11067476|PMID:19712804	20221107	RGD		DNA:missense mutations:exon 9:multiple (human)	
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:2841	asthma		ISO	RGD:1316618	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25741868|PMID:27496873|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29369293|PMID:29650543|PMID:29895960|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32187365|PMID:32840935|PMID:32969603|PMID:34575212
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:2843	long QT syndrome		ISO	RGD:1316618	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:3275	thymoma		ISO	RGD:1316618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1316618	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1316618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868|PMID:28492532
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:4362	cervical cancer		ISO	RGD:1316618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1316618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:6000	congestive heart failure		ISO	RGD:1316618	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure	PMID:25741868|PMID:28492532|PMID:34174465
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1316618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:24033266|PMID:25741868
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:9003987	Gastric Polyposis		ISO	RGD:1316618	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric polyposis	PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25741868|PMID:27496873|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29369293|PMID:29650543|PMID:29895960|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32187365|PMID:32840935|PMID:32969603|PMID:34575212
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:1316618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden cardiac death	PMID:25741868
1307427	Rbm20	RNA binding motif protein 20	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1316618	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25741868|PMID:27496873|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29369293|PMID:29650543|PMID:29895960|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32187365|PMID:32840935|PMID:32969603|PMID:34575212
1307428	Psmb10	proteasome 20S subunit beta 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307428	Psmb10	proteasome 20S subunit beta 10	gene	DOID:0060919	proteosome-associated autoinflammatory syndrome 5		ISO	RGD:1316619	D	RGD:7240710	20210303	OMIM			
1307428	Psmb10	proteasome 20S subunit beta 10	gene	DOID:0060919	proteosome-associated autoinflammatory syndrome 5		ISO	RGD:1316619	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 5	PMID:25741868
1307428	Psmb10	proteasome 20S subunit beta 10	gene	DOID:0061087	immunodeficiency 121		ISO	RGD:1316619	D	RGD:7240710	20240710	OMIM			
1307428	Psmb10	proteasome 20S subunit beta 10	gene	DOID:0061087	immunodeficiency 121		ISO	RGD:1316619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 121 WITH AUTOINFLAMMATION	PMID:25741868|PMID:38503300
1307428	Psmb10	proteasome 20S subunit beta 10	gene	DOID:10534	stomach cancer		ISO	RGD:1316619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307428	Psmb10	proteasome 20S subunit beta 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307428	Psmb10	proteasome 20S subunit beta 10	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1316619	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1307428	Psmb10	proteasome 20S subunit beta 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307428	Psmb10	proteasome 20S subunit beta 10	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316619	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307428	Psmb10	proteasome 20S subunit beta 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:18414213|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:0050562	West syndrome		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:18414213|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:0050952	spastic ataxia		ISO	RGD:1604894	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:0050986	spinocerebellar ataxia 40		ISO	RGD:1604894	D	RGD:7240710	20170419	OMIM			
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:0050986	spinocerebellar ataxia 40		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia 40 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 40	PMID:18414213|PMID:25062847|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36768938
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:0070681	congenital hydrocephalus		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:0070682	congenital hydrocephalus 1		ISO	RGD:1604894	D	RGD:7240710	20260506	OMIM			
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:0070682	congenital hydrocephalus 1		ISO	RGD:1604894	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CCDC88C-related condition | ClinVar Annotator: match by term: Congenital hydrocephalus 1 | ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, 1 | ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 | ClinVar Annotator: match by term: hydrocephalus, nonsyndromic, autosomal recessive 1	PMID:16199547|PMID:18414213|PMID:21031079|PMID:23042809|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29225145|PMID:29341397|PMID:34092257
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:18414213|PMID:25062847|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:10534	stomach cancer		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:18414213|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:1059	intellectual disability		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:10908	hydrocephalus		ISO	RGD:1604894	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:10908	hydrocephalus		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:18414213|PMID:25062847|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:1115	sarcoma		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:18414213|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:12849	autistic disorder		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:18414213|PMID:25062847|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:1826	epilepsy		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:18414213|PMID:25062847|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:1909	melanoma		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:23042809|PMID:28492532|PMID:29225145
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:2030	anxiety disorder		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:18414213|PMID:25062847|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:2234	focal epilepsy		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:18414213|PMID:25062847|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:18414213|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:3275	thymoma		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:18414213|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:4362	cervical cancer		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:5041	esophageal cancer		ISO	RGD:1604894	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:18414213|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:535	sleep disorder		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:540	strabismus		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:18414213|PMID:25062847|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:6039	uveal melanoma		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:18414213|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:630	genetic disease		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:25062847|PMID:25741868|PMID:26467025|PMID:27652284|PMID:28492532|PMID:36413997|PMID:38173219
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:18414213|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:9000052	Breech Presentation		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breech presentation	PMID:18414213|PMID:25062847|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1604894	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:9004866	Ataxia		ISO	RGD:1604894	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:18414213|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:18414213|PMID:25062847|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:18414213|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18414213|PMID:25062847|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:18414213|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:18414213|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:9256	colorectal cancer		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:18414213|PMID:25741868|PMID:28492532
1307429	Ccdc88c	coiled-coil and HOOK domain protein 88C	gene	DOID:936	brain disease		ISO	RGD:1604894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:18414213|PMID:25062847|PMID:28492532
1307430	Pcbp3	poly(rC) binding protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1316622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307430	Pcbp3	poly(rC) binding protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316622	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307430	Pcbp3	poly(rC) binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307430	Pcbp3	poly(rC) binding protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307432	Pcdhgb8	protocadherin gamma subfamily B, 8	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1307433	Psme3ip1	proteasome activator subunit 3 interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307433	Psme3ip1	proteasome activator subunit 3 interacting protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1605044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307433	Psme3ip1	proteasome activator subunit 3 interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307433	Psme3ip1	proteasome activator subunit 3 interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605044	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307433	Psme3ip1	proteasome activator subunit 3 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307434	Gtf3c6	general transcription factor 3C subunit 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307434	Gtf3c6	general transcription factor 3C subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307434	Gtf3c6	general transcription factor 3C subunit 6	gene	DOID:1909	melanoma		ISO	RGD:1316627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307434	Gtf3c6	general transcription factor 3C subunit 6	gene	DOID:4362	cervical cancer		ISO	RGD:1316627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307434	Gtf3c6	general transcription factor 3C subunit 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307434	Gtf3c6	general transcription factor 3C subunit 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307434	Gtf3c6	general transcription factor 3C subunit 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1307435	Gtf2ird2	GTF2I repeat domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:0070651	neurodevelopmental disorder with seizures and gingival overgrowth		ISO	RGD:1604393	D	RGD:7240710	20210818	OMIM			
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:0070651	neurodevelopmental disorder with seizures and gingival overgrowth		ISO	RGD:1604393	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and gingival overgrowth	PMID:25741868|PMID:38177409
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:1115	sarcoma		ISO	RGD:1604393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:1324	lung cancer		ISO	RGD:1604393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:1909	melanoma		ISO	RGD:1604393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:3275	thymoma		ISO	RGD:1604393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1604393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:630	genetic disease		ISO	RGD:1604393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307436	Tbc1d2b	TBC1 domain family, member 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307437	Gpr162	G protein-coupled receptor 162	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307437	Gpr162	G protein-coupled receptor 162	gene	DOID:10534	stomach cancer		ISO	RGD:1603661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307437	Gpr162	G protein-coupled receptor 162	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307437	Gpr162	G protein-coupled receptor 162	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307437	Gpr162	G protein-coupled receptor 162	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307437	Gpr162	G protein-coupled receptor 162	gene	DOID:9351	diabetes mellitus		IEP		D	RGD:628374356|PMID:24937127	20251006	RGD		mRNA:altered expression:right ventricle,kidney,brain	
1307439	Lmntd2	lamin tail domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307439	Lmntd2	lamin tail domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307439	Lmntd2	lamin tail domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307439	Lmntd2	lamin tail domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307439	Lmntd2	lamin tail domain containing 2	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:405875144	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: KCNQ1-related condition	PMID:21910219|PMID:25427884|PMID:28492532
1307439	Lmntd2	lamin tail domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307439	Lmntd2	lamin tail domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307439	Lmntd2	lamin tail domain containing 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307439	Lmntd2	lamin tail domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307439	Lmntd2	lamin tail domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307440	Lrrc58	leucine rich repeat containing 58	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307440	Lrrc58	leucine rich repeat containing 58	gene	DOID:10534	stomach cancer		ISO	RGD:1606179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307440	Lrrc58	leucine rich repeat containing 58	gene	DOID:1909	melanoma		ISO	RGD:1606179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307440	Lrrc58	leucine rich repeat containing 58	gene	DOID:3275	thymoma		ISO	RGD:1606179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307440	Lrrc58	leucine rich repeat containing 58	gene	DOID:5041	esophageal cancer		ISO	RGD:1606179	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307440	Lrrc58	leucine rich repeat containing 58	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307441	Siglecg	sialic acid binding Ig-like lectin G	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307441	Siglecg	sialic acid binding Ig-like lectin G	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1316636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:1115	sarcoma		ISO	RGD:1316636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:1909	melanoma		ISO	RGD:1316636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:4362	cervical cancer		ISO	RGD:1316636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:5041	esophageal cancer		ISO	RGD:1316636	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316636	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:9119	acute myeloid leukemia		ISS	RGD:1316637	D	RGD:13592920	20180518	MouseDO		OMIM:601626	
1307442	Arid4a	AT-rich interaction domain 4A	gene	DOID:9538	multiple myeloma		ISO	RGD:1316636	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1307443	Kiaa0319	KIAA0319 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307443	Kiaa0319	KIAA0319 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307443	Kiaa0319	KIAA0319 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1348294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307443	Kiaa0319	KIAA0319 homolog	gene	DOID:1909	melanoma		ISO	RGD:1348294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307443	Kiaa0319	KIAA0319 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307443	Kiaa0319	KIAA0319 homolog	gene	DOID:3275	thymoma		ISO	RGD:1348294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307443	Kiaa0319	KIAA0319 homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307443	Kiaa0319	KIAA0319 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307443	Kiaa0319	KIAA0319 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307443	Kiaa0319	KIAA0319 homolog	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348294	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307443	Kiaa0319	KIAA0319 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307444	Tmigd1	transmembrane and immunoglobulin domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307446	Nlrp5	NLR family, pyrin domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1348361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307446	Nlrp5	NLR family, pyrin domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1348361	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307446	Nlrp5	NLR family, pyrin domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307446	Nlrp5	NLR family, pyrin domain containing 5	gene	DOID:9006204	Oocyte/Zygote/Embryo Maturation Arrest 19		ISO	RGD:1348361	D	RGD:7240710	20230505	OMIM			
1307446	Nlrp5	NLR family, pyrin domain containing 5	gene	DOID:9006204	Oocyte/Zygote/Embryo Maturation Arrest 19		ISO	RGD:1348361	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NLRP5-related condition | ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 19 | ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 19 | ClinVar Annotator: match by term: oocyte/zygote/embryo maturation arrest 19	PMID:25741868|PMID:28492532
1307446	Nlrp5	NLR family, pyrin domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307446	Nlrp5	NLR family, pyrin domain containing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307447	Dolpp1	dolichyldiphosphatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307447	Dolpp1	dolichyldiphosphatase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307447	Dolpp1	dolichyldiphosphatase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307447	Dolpp1	dolichyldiphosphatase 1	gene	DOID:1324	lung cancer		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307447	Dolpp1	dolichyldiphosphatase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307447	Dolpp1	dolichyldiphosphatase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307447	Dolpp1	dolichyldiphosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307447	Dolpp1	dolichyldiphosphatase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307447	Dolpp1	dolichyldiphosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307448	H4c14	H4 clustered histone 14	gene	DOID:1059	intellectual disability		ISO	RGD:1342856	D	RGD:11554173	20170214	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1307449	Gin1	gypsy retrotransposon integrase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307449	Gin1	gypsy retrotransposon integrase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307449	Gin1	gypsy retrotransposon integrase 1	gene	DOID:1115	sarcoma		ISO	RGD:1603218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307449	Gin1	gypsy retrotransposon integrase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307449	Gin1	gypsy retrotransposon integrase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307449	Gin1	gypsy retrotransposon integrase 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1603218	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
1307449	Gin1	gypsy retrotransposon integrase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:1909	melanoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316650	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316650	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316650	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307451	Ubxn4	UBX domain protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307452	Klhl1	kelch-like family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307452	Klhl1	kelch-like family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307452	Klhl1	kelch-like family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1316652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307452	Klhl1	kelch-like family member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307452	Klhl1	kelch-like family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307452	Klhl1	kelch-like family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316652	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307452	Klhl1	kelch-like family member 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1316652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307452	Klhl1	kelch-like family member 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1316652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307453	Dnajb5	DnaJ heat shock protein family (Hsp40) member B5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307453	Dnajb5	DnaJ heat shock protein family (Hsp40) member B5	gene	DOID:1115	sarcoma		ISO	RGD:1316654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307453	Dnajb5	DnaJ heat shock protein family (Hsp40) member B5	gene	DOID:1324	lung cancer		ISO	RGD:1316654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307453	Dnajb5	DnaJ heat shock protein family (Hsp40) member B5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307453	Dnajb5	DnaJ heat shock protein family (Hsp40) member B5	gene	DOID:870	neuropathy		ISO	RGD:1316654	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:26257172
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1316657	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:0070444	neurodevelopmental disorder with language delay and seizures		ISO	RGD:1316657	D	RGD:7240710	20221116	OMIM			
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:0070444	neurodevelopmental disorder with language delay and seizures		ISO	RGD:1316657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and seizures | ClinVar Annotator: match by term: TIAM1-related condition	PMID:25741868|PMID:28492532
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:1115	sarcoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:1324	lung cancer		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1316657	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27862620
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:1909	melanoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:3275	thymoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316657	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1316657	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27862620
1307455	Tiam1	TIAM Rac1 associated GEF 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307456	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307456	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307456	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307456	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U-like 1	gene	DOID:1909	melanoma		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307456	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U-like 1	gene	DOID:3275	thymoma		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307456	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307456	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316659	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307456	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307456	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307456	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307456	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307456	Hnrnpul1	heterogeneous nuclear ribonucleoprotein U-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307457	Dusp19	dual specificity phosphatase 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307457	Dusp19	dual specificity phosphatase 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307457	Dusp19	dual specificity phosphatase 19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307457	Dusp19	dual specificity phosphatase 19	gene	DOID:1115	sarcoma		ISO	RGD:1316661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307457	Dusp19	dual specificity phosphatase 19	gene	DOID:1324	lung cancer		ISO	RGD:1316661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307457	Dusp19	dual specificity phosphatase 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1316661	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307457	Dusp19	dual specificity phosphatase 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307457	Dusp19	dual specificity phosphatase 19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307457	Dusp19	dual specificity phosphatase 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307457	Dusp19	dual specificity phosphatase 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307457	Dusp19	dual specificity phosphatase 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307457	Dusp19	dual specificity phosphatase 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307458	Smpdl3b	sphingomyelin phosphodiesterase, acid-like 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307458	Smpdl3b	sphingomyelin phosphodiesterase, acid-like 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307458	Smpdl3b	sphingomyelin phosphodiesterase, acid-like 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1316663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307458	Smpdl3b	sphingomyelin phosphodiesterase, acid-like 3B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307458	Smpdl3b	sphingomyelin phosphodiesterase, acid-like 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307458	Smpdl3b	sphingomyelin phosphodiesterase, acid-like 3B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307458	Smpdl3b	sphingomyelin phosphodiesterase, acid-like 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1316666	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISS	RGD:1316666	D	RGD:13592920	20180518	MouseDO		OMIM:263200	
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:0111682	cystic renal dysplasia		ISO	RGD:1316665	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BICC1-related condition | ClinVar Annotator: match by term: RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to | ClinVar Annotator: match by term: renal dysplasia, cystic, susceptibility to	PMID:21922595|PMID:25741868|PMID:28492532
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:0111682	cystic renal dysplasia	susceptibility	ISO	RGD:1316665	D	RGD:7240710	20200219	OMIM			
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:1074	kidney failure		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:14766	renal agenesis		ISO	RGD:1316665	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:25741868|PMID:35005812
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:2975	cystic kidney disease		ISS	RGD:1316666	D	RGD:13592920	20180518	MouseDO			
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316665	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:557	kidney disease		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:25741868
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:576	proteinuria		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:898	autosomal dominant polycystic kidney disease		ISS	RGD:1316666	D	RGD:13592920	20180518	MouseDO			
1307459	Bicc1	BicC family RNA binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307461	C8h3orf18	similar to human chromosome 3 open reading frame 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307461	C8h3orf18	similar to human chromosome 3 open reading frame 18	gene	DOID:10534	stomach cancer		ISO	RGD:1343802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307461	C8h3orf18	similar to human chromosome 3 open reading frame 18	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307461	C8h3orf18	similar to human chromosome 3 open reading frame 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307463	Krt14	keratin 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307463	Krt14	keratin 14	gene	DOID:0060735	generalized severe epidermolysis bullosa simplex 1A		ISO	RGD:1316671	D	RGD:7240710	20260506	OMIM			
1307463	Krt14	keratin 14	gene	DOID:0060735	generalized severe epidermolysis bullosa simplex 1A		ISO	RGD:1316671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe | ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type	PMID:10583131|PMID:11331879|PMID:12890194|PMID:16098032|PMID:16786515|PMID:16960809|PMID:1717157|PMID:1720261|PMID:18717745|PMID:20151404|PMID:20301543|PMID:21623745|PMID:25741868|PMID:26432462|PMID:28492532|PMID:31772641|PMID:31957133|PMID:35191026|PMID:36430820|PMID:36578049|PMID:37452458|PMID:38474236|PMID:38803406|PMID:9554744
1307463	Krt14	keratin 14	gene	DOID:0060735	generalized severe epidermolysis bullosa simplex 1A		ISS	RGD:1316672	D	RGD:13592920	20211104	MouseDO		OMIM:131760	
1307463	Krt14	keratin 14	gene	DOID:0080510	epidermolysis bullosa simplex 1C		ISO	RGD:1316671	D	RGD:7240710	20260506	OMIM			
1307463	Krt14	keratin 14	gene	DOID:0080510	epidermolysis bullosa simplex 1C		ISO	RGD:1316671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized | ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex	PMID:11710919|PMID:17039244|PMID:23746086|PMID:25741868|PMID:27283507|PMID:28492532|PMID:32884918|PMID:32885477|PMID:7561171
1307463	Krt14	keratin 14	gene	DOID:0080511	generalized intermediate epidermolysis bullosa simplex 1B		ISO	RGD:1316671	D	RGD:7240710	20211027	OMIM			
1307463	Krt14	keratin 14	gene	DOID:0080511	generalized intermediate epidermolysis bullosa simplex 1B		ISO	RGD:1316671	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type	PMID:10583131|PMID:11331879|PMID:12890194|PMID:16098032|PMID:16786515|PMID:16960809|PMID:1717157|PMID:1720261|PMID:18717745|PMID:20151404|PMID:20301543|PMID:21623745|PMID:25741868|PMID:26432462|PMID:28492532|PMID:31772641|PMID:31957133|PMID:35191026|PMID:36430820|PMID:36578049|PMID:37452458|PMID:38474236|PMID:38803406
1307463	Krt14	keratin 14	gene	DOID:0111342	dermatopathia pigmentosa reticularis		ISO	RGD:1316671	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307463	Krt14	keratin 14	gene	DOID:0111342	dermatopathia pigmentosa reticularis		ISO	RGD:1316671	D	RGD:7240710	20130221	OMIM			
1307463	Krt14	keratin 14	gene	DOID:0111342	dermatopathia pigmentosa reticularis		ISO	RGD:1316671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis	PMID:25741868|PMID:28492532
1307463	Krt14	keratin 14	gene	DOID:0111528	Naegeli-Franceschetti-Jadassohn syndrome		ISO	RGD:1316671	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16960809
1307463	Krt14	keratin 14	gene	DOID:0111528	Naegeli-Franceschetti-Jadassohn syndrome		ISO	RGD:1316671	D	RGD:7240710	20130221	OMIM			
1307463	Krt14	keratin 14	gene	DOID:0111528	Naegeli-Franceschetti-Jadassohn syndrome		ISO	RGD:1316671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME | ClinVar Annotator: match by term: NFJ SYNDROME | ClinVar Annotator: match by term: NFJ syndrome	PMID:25741868|PMID:28492532
1307463	Krt14	keratin 14	gene	DOID:10123	pigmentation disease		ISO	RGD:1316671	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16960809
1307463	Krt14	keratin 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307463	Krt14	keratin 14	gene	DOID:14501	Sjogren-Larsson syndrome		ISO	RGD:1316671	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sjogren-Larsson syndrome	PMID:10971341|PMID:16614722|PMID:25741868|PMID:27283507|PMID:28492532|PMID:28830826|PMID:29130490
1307463	Krt14	keratin 14	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1316671	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16543248
1307463	Krt14	keratin 14	gene	DOID:2730	epidermolysis bullosa		ISO	RGD:1316671	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa	PMID:25741868
1307463	Krt14	keratin 14	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1316671	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:16543248
1307463	Krt14	keratin 14	gene	DOID:4362	cervical cancer		ISO	RGD:1316671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307463	Krt14	keratin 14	gene	DOID:4644	epidermolysis bullosa simplex		ISO	RGD:1316671	D	RGD:11554173	20190430	CTD		CTD Direct Evidence: marker/mechanism	
1307463	Krt14	keratin 14	gene	DOID:4644	epidermolysis bullosa simplex		ISO	RGD:1316671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epidermolysis Bullosa Simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Simplex epidermolysis bullosa	PMID:10583131|PMID:11331879|PMID:11710919|PMID:12890194|PMID:12925204|PMID:16098032|PMID:16960809|PMID:1717157|PMID:18717745|PMID:20151404|PMID:20301543|PMID:21623745|PMID:25741868|PMID:26432462|PMID:28492532|PMID:31772641|PMID:31957133|PMID:35191026|PMID:36430820|PMID:36578049|PMID:37452458|PMID:38474236|PMID:38803406|PMID:8601736|PMID:9804355
1307463	Krt14	keratin 14	gene	DOID:4644	epidermolysis bullosa simplex		ISS	RGD:1316672	D	RGD:13592920	20230718	MouseDO		OMIM:601001 | OMIM:615425	
1307463	Krt14	keratin 14	gene	DOID:4644	epidermolysis bullosa simplex	susceptibility	ISO	RGD:1316671	D	RGD:1600173|PMID:1717157	20070301	RGD		DNA:point mutations	
1307463	Krt14	keratin 14	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307463	Krt14	keratin 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307463	Krt14	keratin 14	gene	DOID:630	genetic disease		ISO	RGD:1316671	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10583131|PMID:11331879|PMID:12890194|PMID:16098032|PMID:16960809|PMID:1717157|PMID:18717745|PMID:20151404|PMID:20301543|PMID:21623745|PMID:25741868|PMID:26432462|PMID:28492532|PMID:31772641|PMID:31957133|PMID:35191026|PMID:36430820|PMID:36578049|PMID:37452458|PMID:38474236|PMID:38803406
1307463	Krt14	keratin 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307463	Krt14	keratin 14	gene	DOID:7134	esophagus small cell carcinoma		IEP		D	RGD:1600174|PMID:16140947	20070301	RGD		protein:increased expression:esophagus	
1307463	Krt14	keratin 14	gene	DOID:9000954	Parakeratosis		IEP		D	RGD:1600175|PMID:15809047	20070301	RGD			
1307463	Krt14	keratin 14	gene	DOID:9000965	Neoplasm Metastasis		IEP		D	RGD:1600180|PMID:9876218	20070301	RGD		mRNA:decreased expression:epithelial cell	
1307463	Krt14	keratin 14	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:1316671	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16543248
1307463	Krt14	keratin 14	gene	DOID:9006519	Generalized Epidermolysis Bullosa Simplex 1D		ISO	RGD:1316671	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307463	Krt14	keratin 14	gene	DOID:9006519	Generalized Epidermolysis Bullosa Simplex 1D		ISO	RGD:1316671	D	RGD:7240710	20130221	OMIM			
1307463	Krt14	keratin 14	gene	DOID:9006519	Generalized Epidermolysis Bullosa Simplex 1D		ISO	RGD:1316671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	PMID:20301543|PMID:25741868|PMID:28492532|PMID:9554744
1307463	Krt14	keratin 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307463	Krt14	keratin 14	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1316671	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22011395
1307463	Krt14	keratin 14	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316671	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25330770
1307464	Banp	Btg3 associated nuclear protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307464	Banp	Btg3 associated nuclear protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307464	Banp	Btg3 associated nuclear protein	gene	DOID:1909	melanoma		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307464	Banp	Btg3 associated nuclear protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307464	Banp	Btg3 associated nuclear protein	gene	DOID:3275	thymoma		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307464	Banp	Btg3 associated nuclear protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307464	Banp	Btg3 associated nuclear protein	gene	DOID:4362	cervical cancer		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307464	Banp	Btg3 associated nuclear protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307464	Banp	Btg3 associated nuclear protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307464	Banp	Btg3 associated nuclear protein	gene	DOID:9005834	Ependymomas		ISO	RGD:1316673	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1307464	Banp	Btg3 associated nuclear protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307464	Banp	Btg3 associated nuclear protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307464	Banp	Btg3 associated nuclear protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:0080129	mitochondrial DNA depletion syndrome 11		ISO	RGD:1316675	D	RGD:7240710	20140911	OMIM			
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:0080129	mitochondrial DNA depletion syndrome 11		ISO	RGD:1316675	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MGME1-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 11 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11	PMID:23313956|PMID:25058219|PMID:25741868|PMID:28097321|PMID:28492532|PMID:28711739
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:0080600	COVID-19		ISO	RGD:1316675	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868|PMID:28097321|PMID:28492532
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:1115	sarcoma		ISO	RGD:1316675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:11162	respiratory failure		ISO	RGD:1316675	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23313956
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:1324	lung cancer		ISO	RGD:1316675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:1596	depressive disorder		ISO	RGD:1316675	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25058219|PMID:25741868|PMID:28492532
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1316675	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25058219|PMID:25741868|PMID:28492532
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1316675	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25058219|PMID:25741868|PMID:28492532
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:3275	thymoma		ISO	RGD:1316675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316675	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:539	ophthalmoplegia		ISO	RGD:1316675	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23313956
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:607	paraplegia		ISO	RGD:1316675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868|PMID:28097321|PMID:28492532
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:630	genetic disease		ISO	RGD:1316675	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1316675	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23313956
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:9000495	Tremor		ISO	RGD:1316675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:25741868|PMID:28097321|PMID:28492532
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:9000498	Emaciation		ISO	RGD:1316675	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23313956
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1316675	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25058219|PMID:25741868|PMID:28492532
1307465	Mgme1	mitochondrial genome maintenance exonuclease 1	gene	DOID:9004866	Ataxia		ISO	RGD:1316675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyssynergia	PMID:25741868|PMID:28097321|PMID:28492532
1307466	Cpne7	copine 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307466	Cpne7	copine 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307466	Cpne7	copine 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307466	Cpne7	copine 7	gene	DOID:3275	thymoma		ISO	RGD:1316677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307466	Cpne7	copine 7	gene	DOID:4362	cervical cancer		ISO	RGD:1316677	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307466	Cpne7	copine 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307466	Cpne7	copine 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307466	Cpne7	copine 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1316677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307466	Cpne7	copine 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307466	Cpne7	copine 7	gene	DOID:9003566	Mesothelioma		ISO	RGD:1316677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307466	Cpne7	copine 7	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1307466	Cpne7	copine 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307466	Cpne7	copine 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1307466	Cpne7	copine 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307466	Cpne7	copine 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1316677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307468	Rell1	RELT-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1625842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307468	Rell1	RELT-like 1	gene	DOID:3275	thymoma		ISO	RGD:1625842	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307468	Rell1	RELT-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307468	Rell1	RELT-like 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1625842	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307468	Rell1	RELT-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1625842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:10534	stomach cancer		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:13636	Fanconi anemia		ISO	RGD:1316682	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:13636	Fanconi anemia		ISO	RGD:1316682	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12697994|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25640679|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29779353|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31248416|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:13636	Fanconi anemia		ISO	RGD:1316682	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12697994|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25640679|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:27854218|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29779353|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31248416|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:13636	Fanconi anemia		ISO	RGD:1316682	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12697994|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25640679|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29098742|PMID:29779353|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30809872|PMID:30919572|PMID:31248416|PMID:31586946|PMID:31613886|PMID:31698007|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:33960719|PMID:34308366|PMID:34512202|PMID:34585473|PMID:37349538|PMID:9371798|PMID:9536098|PMID:9721219
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:13636	Fanconi anemia		ISO	RGD:1316682	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12697994|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25640679|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29098742|PMID:29779353|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30809872|PMID:30919572|PMID:31248416|PMID:31586946|PMID:31613886|PMID:31698007|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:33960719|PMID:34308366|PMID:34512202|PMID:34585473|PMID:36894310|PMID:37349538|PMID:9371798|PMID:9536098|PMID:9721219
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:1909	melanoma		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:3275	thymoma		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:4362	cervical cancer		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307469	Zfp276	zinc finger protein (C2H2 type) 276	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307471	Cyp39a1	cytochrome P450, family 39, subfamily a, polypeptide 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307471	Cyp39a1	cytochrome P450, family 39, subfamily a, polypeptide 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307471	Cyp39a1	cytochrome P450, family 39, subfamily a, polypeptide 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316685	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1307471	Cyp39a1	cytochrome P450, family 39, subfamily a, polypeptide 1	gene	DOID:1115	sarcoma		ISO	RGD:1316685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307471	Cyp39a1	cytochrome P450, family 39, subfamily a, polypeptide 1	gene	DOID:1909	melanoma		ISO	RGD:1316685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307471	Cyp39a1	cytochrome P450, family 39, subfamily a, polypeptide 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307471	Cyp39a1	cytochrome P450, family 39, subfamily a, polypeptide 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316685	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307471	Cyp39a1	cytochrome P450, family 39, subfamily a, polypeptide 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307471	Cyp39a1	cytochrome P450, family 39, subfamily a, polypeptide 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316685	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307471	Cyp39a1	cytochrome P450, family 39, subfamily a, polypeptide 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307471	Cyp39a1	cytochrome P450, family 39, subfamily a, polypeptide 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307472	Pkp1	plakophilin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307472	Pkp1	plakophilin 1	gene	DOID:0080988	pretibial dystrophic epidermolysis bullosa		ISO	RGD:1316687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa	PMID:25741868
1307472	Pkp1	plakophilin 1	gene	DOID:1909	melanoma		ISO	RGD:1316687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307472	Pkp1	plakophilin 1	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1316687	D	RGD:1599084|PMID:9326952	20070116	RGD			
1307472	Pkp1	plakophilin 1	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1316687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:25741868
1307472	Pkp1	plakophilin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316687	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307472	Pkp1	plakophilin 1	gene	DOID:630	genetic disease		ISO	RGD:1316687	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307472	Pkp1	plakophilin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316687	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
1307472	Pkp1	plakophilin 1	gene	DOID:9006397	Ectodermal Dysplasia-Skin Fragility Syndrome		ISO	RGD:1316687	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307472	Pkp1	plakophilin 1	gene	DOID:9006397	Ectodermal Dysplasia-Skin Fragility Syndrome		ISO	RGD:1316687	D	RGD:7240710	20130425	OMIM			
1307472	Pkp1	plakophilin 1	gene	DOID:9006397	Ectodermal Dysplasia-Skin Fragility Syndrome		ISO	RGD:1316687	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | ClinVar Annotator: match by term: MCGRATH SYNDROME | ClinVar Annotator: match by term: Mcgrath syndrome | ClinVar Annotator: match by term: PKP1-related condition	PMID:25741868|PMID:28492532
1307472	Pkp1	plakophilin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307472	Pkp1	plakophilin 1	gene	DOID:987	alopecia		ISO	RGD:1316687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:25741868
1307474	Rpp38	ribonuclease P/MRP subunit p38	gene	DOID:1909	melanoma		ISO	RGD:1316690	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1307474	Rpp38	ribonuclease P/MRP subunit p38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307475	Pip4p1	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307475	Pip4p1	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307475	Pip4p1	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307475	Pip4p1	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307475	Pip4p1	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1316692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307476	Pdik1l	PDLIM1 interacting kinase 1 like	gene	DOID:1115	sarcoma		ISO	RGD:1352576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307476	Pdik1l	PDLIM1 interacting kinase 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307477	Mfrp	membrane frizzled-related protein	gene	DOID:0060837	isolated microphthalmia 5		ISO	RGD:1316695	D	RGD:11553925|PMID:19753314	20161018	RGD		DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)	
1307477	Mfrp	membrane frizzled-related protein	gene	DOID:0060837	isolated microphthalmia 5		ISO	RGD:1316695	D	RGD:7240710	20130221	OMIM			
1307477	Mfrp	membrane frizzled-related protein	gene	DOID:0060869	late-onset retinal degeneration		ISO	RGD:10050295|RGD:10051646|RGD:11578947|RGD:11579720|RGD:11580356|RGD:11580772|RGD:11582836|RGD:11583018|RGD:11584957|RGD:11585737|RGD:11585836|RGD:11588128|RGD:11588342|RGD:11588762|RGD:11589058|RGD:11589212|RGD:11589776|RGD:11591864|RGD:11592636|RGD:11593157|RGD:11593487|RGD:11593812|RGD:11599309|RGD:11603558|RGD:11606038|RGD:11612305|RGD:11612398|RGD:11621506|RGD:11651139|RGD:13516988|RGD:13522898|RGD:26896604|RGD:28897422|RGD:28897426|RGD:28900904|RGD:28904435|RGD:28907362|RGD:28910099|RGD:405115260	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: C1QTNF5-related condition | ClinVar Annotator: match by term: Late-onset retinal degeneration	PMID:28492532
1307477	Mfrp	membrane frizzled-related protein	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1316695	D	RGD:11553921|PMID:22605927	20161017	RGD		DNA:deletio:exon:c.498delC(P.166PfsX26)(human)	
1307477	Mfrp	membrane frizzled-related protein	gene	DOID:10629	microphthalmia		ISO	RGD:1316695	D	RGD:11553922|PMID:23742260	20161017	RGD		DNA:nonsense mutations:exons:c.271C>T,c.498dupC(human)	
1307477	Mfrp	membrane frizzled-related protein	gene	DOID:11105	fundus albipunctatus		ISS	RGD:1620492	D	RGD:13592920	20180518	MouseDO		OMIM:136880	
1307477	Mfrp	membrane frizzled-related protein	gene	DOID:8466	retinal degeneration		ISO	RGD:1620492	D	RGD:11553928|PMID:12140190	20161018	RGD		DNA:mutation:splice junction:	
1307477	Mfrp	membrane frizzled-related protein	gene	DOID:8466	retinal degeneration	treatment	ISO	RGD:1620492	D	RGD:11553878|PMID:22142163	20161017	RGD			
1307477	Mfrp	membrane frizzled-related protein	gene	DOID:9002122	Nanophthalmos 2		ISO	RGD:1316695	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307477	Mfrp	membrane frizzled-related protein	gene	DOID:9002122	Nanophthalmos 2		ISO	RGD:1316695	D	RGD:7240710	20130221	OMIM			
1307477	Mfrp	membrane frizzled-related protein	gene	DOID:9002594	High Hyperopia		ISO	RGD:1316695	D	RGD:11076374|PMID:26583794	20161018	RGD		DNA:missense, deletion, duplication mutations:cds:	
1307478	Ms4a10	membrane spanning 4-domains A10	gene	DOID:1059	intellectual disability		ISO	RGD:1316696	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1307478	Ms4a10	membrane spanning 4-domains A10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606808	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606808	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1307479	Gapvd1	GTPase activating protein and VPS9 domains 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307480	Wdr3	WD repeat domain 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307480	Wdr3	WD repeat domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307480	Wdr3	WD repeat domain 3	gene	DOID:0060058	lymphoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307480	Wdr3	WD repeat domain 3	gene	DOID:1115	sarcoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307480	Wdr3	WD repeat domain 3	gene	DOID:1324	lung cancer		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307480	Wdr3	WD repeat domain 3	gene	DOID:1909	melanoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307480	Wdr3	WD repeat domain 3	gene	DOID:3070	high grade glioma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307480	Wdr3	WD repeat domain 3	gene	DOID:3969	papillary thyroid carcinoma	susceptibility	ISO	RGD:1316699	D	RGD:11041898|PMID:20578902	20160401	RGD		DNA:snps, haplotype:introns: c.500+239G>A, c.*1-2382A>C (rs3765501, rs4658973) (human)	
1307480	Wdr3	WD repeat domain 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307480	Wdr3	WD repeat domain 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316699	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307480	Wdr3	WD repeat domain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316699	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307480	Wdr3	WD repeat domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307480	Wdr3	WD repeat domain 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307480	Wdr3	WD repeat domain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307480	Wdr3	WD repeat domain 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307480	Wdr3	WD repeat domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307480	Wdr3	WD repeat domain 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307481	Ciao2a	cytosolic iron-sulfur assembly component 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307481	Ciao2a	cytosolic iron-sulfur assembly component 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1602086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307481	Ciao2a	cytosolic iron-sulfur assembly component 2A	gene	DOID:1115	sarcoma		ISO	RGD:1602086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307481	Ciao2a	cytosolic iron-sulfur assembly component 2A	gene	DOID:1324	lung cancer		ISO	RGD:1602086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307481	Ciao2a	cytosolic iron-sulfur assembly component 2A	gene	DOID:3070	high grade glioma		ISO	RGD:1602086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307481	Ciao2a	cytosolic iron-sulfur assembly component 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307481	Ciao2a	cytosolic iron-sulfur assembly component 2A	gene	DOID:9256	colorectal cancer		ISO	RGD:126736038	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:28492532
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532|PMID:30773277
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:0070297	primary microcephaly		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:30773277
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:0112295	spondylometaphyseal dysplasia		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylometaphyseal dysplasia	PMID:25741868|PMID:30773277
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:10907	microcephaly		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:30773277
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:1115	sarcoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1316704	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:1227	neutropenia		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	PMID:25741868|PMID:30773277
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:1324	lung cancer		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:1909	melanoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:30773277
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:3275	thymoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:5684	spondyloepimetaphyseal dysplasia, Sponastrime type		ISO	RGD:1316704	D	RGD:7240710	20190731	OMIM			
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:5684	spondyloepimetaphyseal dysplasia, Sponastrime type		ISO	RGD:1316704	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE | ClinVar Annotator: match by term: Sponastrime Dysplasia | ClinVar Annotator: match by term: Sponastrime dysplasia | ClinVar Annotator: match by term: TONSL-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30773277|PMID:30773278|PMID:32959051|PMID:9536098
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:630	genetic disease		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316704	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:9007573	Flatfoot		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:30773277
1307483	Tonsl	tonsoku-like, DNA repair protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307485	Cpeb2	cytoplasmic polyadenylation element binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316707	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307485	Cpeb2	cytoplasmic polyadenylation element binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307488	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307488	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:0112311	male infertility due to acephalic spermatozoa		IAGP		D	RGD:150521555|PMID:19710508	20211111	RGD		DNA:insertion:intron 10 (rat)	
1307488	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:10534	stomach cancer		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307488	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307488	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:1115	sarcoma		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307488	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1603924	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1307488	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:1324	lung cancer		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307488	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:3275	thymoma		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307488	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:4362	cervical cancer		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307488	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1603924	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307488	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307488	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307488	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307488	Cntrob	centrobin, centriole duplication and spindle assembly protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307490	Rundc1	RUN domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307490	Rundc1	RUN domain containing 1	gene	DOID:10283	prostate cancer		ISO	RGD:1316714	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1307490	Rundc1	RUN domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1316714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307490	Rundc1	RUN domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316714	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307490	Rundc1	RUN domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307490	Rundc1	RUN domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307491	Rfx6	regulatory factor X, 6	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:1316716	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young	PMID:25741868|PMID:29026101|PMID:31001871
1307491	Rfx6	regulatory factor X, 6	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1316716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1307491	Rfx6	regulatory factor X, 6	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1316716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	
1307491	Rfx6	regulatory factor X, 6	gene	DOID:1826	epilepsy		ISO	RGD:1316716	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy	
1307491	Rfx6	regulatory factor X, 6	gene	DOID:1909	melanoma		ISO	RGD:1316716	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1307491	Rfx6	regulatory factor X, 6	gene	DOID:3275	thymoma		ISO	RGD:1316716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307491	Rfx6	regulatory factor X, 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307491	Rfx6	regulatory factor X, 6	gene	DOID:630	genetic disease		ISO	RGD:1316716	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307491	Rfx6	regulatory factor X, 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316716	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24390282
1307491	Rfx6	regulatory factor X, 6	gene	DOID:9006077	Martinez-Frias Syndrome		ISO	RGD:1316716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA	PMID:25741868|PMID:28492532
1307491	Rfx6	regulatory factor X, 6	gene	DOID:9007412	Mitchell-Riley Syndrome		ISO	RGD:1316716	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307491	Rfx6	regulatory factor X, 6	gene	DOID:9007412	Mitchell-Riley Syndrome		ISO	RGD:1316716	D	RGD:7240710	20141015	OMIM			
1307491	Rfx6	regulatory factor X, 6	gene	DOID:9007412	Mitchell-Riley Syndrome		ISO	RGD:1316716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITCHELL-RILEY SYNDROME | ClinVar Annotator: match by term: Mitchell-Riley syndrome | ClinVar Annotator: match by term: RFX6-related condition	PMID:18414213|PMID:20148032|PMID:21215266|PMID:25741868|PMID:26559129|PMID:26770845|PMID:28492532|PMID:35307919|PMID:35813646|PMID:36208030
1307491	Rfx6	regulatory factor X, 6	gene	DOID:9351	diabetes mellitus		ISO	RGD:1316716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes | ClinVar Annotator: match by term: monogenic diabetes	PMID:18414213|PMID:25741868|PMID:28492532|PMID:29026101
1307491	Rfx6	regulatory factor X, 6	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1316716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:10534	stomach cancer		ISO	RGD:1316718	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:1115	sarcoma		ISO	RGD:1316718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:3275	thymoma		ISO	RGD:1316718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:4362	cervical cancer		ISO	RGD:1316718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1316718	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:630	genetic disease		ISO	RGD:1316718	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316718	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:9005150	Atelis syndrome 2		ISO	RGD:1316718	D	RGD:7240710	20230125	OMIM			
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:9005150	Atelis syndrome 2		ISO	RGD:1316718	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: ATELIS SYNDROME 2 | ClinVar Annotator: match by term: Atelis syndrome 2	PMID:25741868|PMID:36333305
1307492	Smc5	structural maintenance of chromosomes 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307493	Tlcd3a	TLC domain containing 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605629	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307493	Tlcd3a	TLC domain containing 3A	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1605629	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
1307493	Tlcd3a	TLC domain containing 3A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307493	Tlcd3a	TLC domain containing 3A	gene	DOID:1909	melanoma		ISO	RGD:1605629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307493	Tlcd3a	TLC domain containing 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1605629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307493	Tlcd3a	TLC domain containing 3A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307493	Tlcd3a	TLC domain containing 3A	gene	DOID:5041	esophageal cancer		ISO	RGD:1605629	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307493	Tlcd3a	TLC domain containing 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307493	Tlcd3a	TLC domain containing 3A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307493	Tlcd3a	TLC domain containing 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307494	Tcp11l2	t-complex 11 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307494	Tcp11l2	t-complex 11 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307494	Tcp11l2	t-complex 11 like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307494	Tcp11l2	t-complex 11 like 2	gene	DOID:1115	sarcoma		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307494	Tcp11l2	t-complex 11 like 2	gene	DOID:1324	lung cancer		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307494	Tcp11l2	t-complex 11 like 2	gene	DOID:1909	melanoma		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307494	Tcp11l2	t-complex 11 like 2	gene	DOID:3275	thymoma		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307494	Tcp11l2	t-complex 11 like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307494	Tcp11l2	t-complex 11 like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307494	Tcp11l2	t-complex 11 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605554	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307494	Tcp11l2	t-complex 11 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307494	Tcp11l2	t-complex 11 like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307494	Tcp11l2	t-complex 11 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307494	Tcp11l2	t-complex 11 like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307495	Pnpla5	patatin like domain 5, triacylglycerol lipase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307496	Plxdc1	plexin domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307496	Plxdc1	plexin domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307496	Plxdc1	plexin domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1352937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307496	Plxdc1	plexin domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1352937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307496	Plxdc1	plexin domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307496	Plxdc1	plexin domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1352937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307496	Plxdc1	plexin domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307496	Plxdc1	plexin domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307496	Plxdc1	plexin domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352937	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307496	Plxdc1	plexin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307496	Plxdc1	plexin domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307496	Plxdc1	plexin domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352937	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307496	Plxdc1	plexin domain containing 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1352937	D	RGD:11554173	20251202	CTD		CTD Direct Evidence: marker/mechanism	PMID:39267413
1307496	Plxdc1	plexin domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307496	Plxdc1	plexin domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1352937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307497	R3hdm1	R3H domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307497	R3hdm1	R3H domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307497	R3hdm1	R3H domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307497	R3hdm1	R3H domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1316725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307497	R3hdm1	R3H domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1316725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307497	R3hdm1	R3H domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307497	R3hdm1	R3H domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1316725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307497	R3hdm1	R3H domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307497	R3hdm1	R3H domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307497	R3hdm1	R3H domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307497	R3hdm1	R3H domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307497	R3hdm1	R3H domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307497	R3hdm1	R3H domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307497	R3hdm1	R3H domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307498	Knl1	kinetochore scaffold 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307498	Knl1	kinetochore scaffold 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307498	Knl1	kinetochore scaffold 1	gene	DOID:0070291	primary autosomal recessive microcephaly 4		ISO	RGD:1603976	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307498	Knl1	kinetochore scaffold 1	gene	DOID:0070291	primary autosomal recessive microcephaly 4		ISO	RGD:1603976	D	RGD:7240710	20210317	OMIM			
1307498	Knl1	kinetochore scaffold 1	gene	DOID:0070291	primary autosomal recessive microcephaly 4		ISO	RGD:1603976	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: KNL1-related condition | ClinVar Annotator: match by term: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive	PMID:18414213|PMID:22983954|PMID:25741868|PMID:28454995|PMID:28492532
1307498	Knl1	kinetochore scaffold 1	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1603976	D	RGD:9685043|PMID:22983954	20141216	RGD		DNA:mutation:cds: c.6125 G>A,p. M2041I(human)	
1307498	Knl1	kinetochore scaffold 1	gene	DOID:0080600	COVID-19		ISO	RGD:1603976	D	RGD:9068941	20210319	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307498	Knl1	kinetochore scaffold 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1307498	Knl1	kinetochore scaffold 1	gene	DOID:10907	microcephaly		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1307498	Knl1	kinetochore scaffold 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307498	Knl1	kinetochore scaffold 1	gene	DOID:1115	sarcoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307498	Knl1	kinetochore scaffold 1	gene	DOID:1115	sarcoma	treatment	ISO	RGD:1603976	D	RGD:151660332|PMID:31089155	20220303	RGD			
1307498	Knl1	kinetochore scaffold 1	gene	DOID:1324	lung cancer		ISO	RGD:1603976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1307498	Knl1	kinetochore scaffold 1	gene	DOID:1909	melanoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307498	Knl1	kinetochore scaffold 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307498	Knl1	kinetochore scaffold 1	gene	DOID:3275	thymoma		ISO	RGD:1603976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1307498	Knl1	kinetochore scaffold 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307498	Knl1	kinetochore scaffold 1	gene	DOID:543	dystonia		ISO	RGD:1603976	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:18414213|PMID:25741868|PMID:28454995
1307498	Knl1	kinetochore scaffold 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307498	Knl1	kinetochore scaffold 1	gene	DOID:630	genetic disease		ISO	RGD:1603976	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:25741868|PMID:28454995
1307498	Knl1	kinetochore scaffold 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307498	Knl1	kinetochore scaffold 1	gene	DOID:9001581	Constipation		ISO	RGD:1603976	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:18414213|PMID:25741868|PMID:28454995
1307498	Knl1	kinetochore scaffold 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603976	D	RGD:11554173	20210309	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1307498	Knl1	kinetochore scaffold 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603976	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:18414213|PMID:25741868|PMID:28454995
1307498	Knl1	kinetochore scaffold 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1307498	Knl1	kinetochore scaffold 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603976	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18414213|PMID:25741868|PMID:28454995
1307498	Knl1	kinetochore scaffold 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1307498	Knl1	kinetochore scaffold 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307499	Mad2l2	mitotic arrest deficient 2 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307499	Mad2l2	mitotic arrest deficient 2 like 2	gene	DOID:0111080	Fanconi anemia complementation group V		ISO	RGD:1316729	D	RGD:7240710	20190315	OMIM			
1307499	Mad2l2	mitotic arrest deficient 2 like 2	gene	DOID:0111080	Fanconi anemia complementation group V		ISO	RGD:1316729	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group V | ClinVar Annotator: match by term: MAD2L2-related condition	PMID:25741868|PMID:27500492|PMID:28492532
1307499	Mad2l2	mitotic arrest deficient 2 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307499	Mad2l2	mitotic arrest deficient 2 like 2	gene	DOID:14228	oligospermia		ISO	RGD:1316729	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868
1307499	Mad2l2	mitotic arrest deficient 2 like 2	gene	DOID:1909	melanoma		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307499	Mad2l2	mitotic arrest deficient 2 like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307499	Mad2l2	mitotic arrest deficient 2 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307499	Mad2l2	mitotic arrest deficient 2 like 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307499	Mad2l2	mitotic arrest deficient 2 like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307499	Mad2l2	mitotic arrest deficient 2 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307500	Rnf214	ring finger protein 214	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307500	Rnf214	ring finger protein 214	gene	DOID:10534	stomach cancer		ISO	RGD:1604189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307500	Rnf214	ring finger protein 214	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307500	Rnf214	ring finger protein 214	gene	DOID:1115	sarcoma		ISO	RGD:1604189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307500	Rnf214	ring finger protein 214	gene	DOID:3070	high grade glioma		ISO	RGD:1604189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307500	Rnf214	ring finger protein 214	gene	DOID:3275	thymoma		ISO	RGD:1604189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307500	Rnf214	ring finger protein 214	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307500	Rnf214	ring finger protein 214	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307500	Rnf214	ring finger protein 214	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:0110801	hereditary sensory and autonomic neuropathy type 9		ISO	RGD:1316735	D	RGD:7240710	20130425	OMIM			
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:0110801	hereditary sensory and autonomic neuropathy type 9		ISO	RGD:1316735	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 49 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive | ClinVar Annotator: match by term: TECPR2-related condition	PMID:16199547|PMID:17576681|PMID:23176824|PMID:25590979|PMID:25640679|PMID:25741868|PMID:26431026|PMID:26542466|PMID:27406698|PMID:28492532|PMID:30681437|PMID:32209221|PMID:33847017|PMID:33884296|PMID:34994087|PMID:35130874|PMID:36137062|PMID:38177409|PMID:39567938|PMID:9536098
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1316735	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:10907	microcephaly		ISO	RGD:1316735	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:12849	autistic disorder		ISO	RGD:1316735	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:1909	melanoma		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:2367	neuroaxonal dystrophy		ISO	RGD:1316735	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26555167
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316735	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23176824
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316735	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17576681|PMID:25741868|PMID:27406698|PMID:28492532|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316735	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:17576681|PMID:23176824|PMID:25590979|PMID:25741868|PMID:27406698|PMID:28492532|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316735	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17576681|PMID:23176824|PMID:25590979|PMID:25741868|PMID:26542466|PMID:27406698|PMID:28492532|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:27406698|PMID:28492532
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:630	genetic disease		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33847017
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1316735	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23176824
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316735	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1307503	Tecpr2	tectonin beta-propeller repeat containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307506	Gpx8	glutathione peroxidase 8	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1603792	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1307506	Gpx8	glutathione peroxidase 8	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603792	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307509	Larp1b	La ribonucleoprotein 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307509	Larp1b	La ribonucleoprotein 1B	gene	DOID:10283	prostate cancer		ISO	RGD:1605666	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307509	Larp1b	La ribonucleoprotein 1B	gene	DOID:10283	prostate cancer		ISO	RGD:1605666	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307509	Larp1b	La ribonucleoprotein 1B	gene	DOID:1909	melanoma		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307509	Larp1b	La ribonucleoprotein 1B	gene	DOID:3275	thymoma		ISO	RGD:1605666	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307509	Larp1b	La ribonucleoprotein 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307509	Larp1b	La ribonucleoprotein 1B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307509	Larp1b	La ribonucleoprotein 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307509	Larp1b	La ribonucleoprotein 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307509	Larp1b	La ribonucleoprotein 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307509	Larp1b	La ribonucleoprotein 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307509	Larp1b	La ribonucleoprotein 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307509	Larp1b	La ribonucleoprotein 1B	gene	DOID:9256	colorectal cancer		ISO	RGD:1605666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307510	Zfp330	zinc finger protein 330	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307510	Zfp330	zinc finger protein 330	gene	DOID:1115	sarcoma		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307510	Zfp330	zinc finger protein 330	gene	DOID:1324	lung cancer		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307510	Zfp330	zinc finger protein 330	gene	DOID:1909	melanoma		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307510	Zfp330	zinc finger protein 330	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307510	Zfp330	zinc finger protein 330	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307510	Zfp330	zinc finger protein 330	gene	DOID:6039	uveal melanoma		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307510	Zfp330	zinc finger protein 330	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307510	Zfp330	zinc finger protein 330	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307510	Zfp330	zinc finger protein 330	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307510	Zfp330	zinc finger protein 330	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307511	Ndufc2	NADH:ubiquinone oxidoreductase subunit C2	gene	DOID:0051061	stroke		IMP		D	RGD:11040458|PMID:26888427	20160812	RGD		incidence 40% in heterozygous SHR-Ndufc2<em2Mcwi> rats vs 0% in parental SHR rats after 3 months of stroke-permissive diet	
1307511	Ndufc2	NADH:ubiquinone oxidoreductase subunit C2	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:1316748	D	RGD:11040458|PMID:26888427	20181105	RGD		DNA:SNPs,haplotype::rs641836, rs11237379 (human)	
1307511	Ndufc2	NADH:ubiquinone oxidoreductase subunit C2	gene	DOID:1059	intellectual disability		ISO	RGD:1316748	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1307511	Ndufc2	NADH:ubiquinone oxidoreductase subunit C2	gene	DOID:9001378	Nuclear Type Mitochondrial Complex I Deficiency 36		ISO	RGD:1316748	D	RGD:7240710	20210203	OMIM			
1307512	Yipf2	Yip1 domain family, member 2	gene	DOID:3275	thymoma		ISO	RGD:1604600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307512	Yipf2	Yip1 domain family, member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604600	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307512	Yipf2	Yip1 domain family, member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604600	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307512	Yipf2	Yip1 domain family, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307512	Yipf2	Yip1 domain family, member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307512	Yipf2	Yip1 domain family, member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307513	Pmel	premelanosome protein	gene	DOID:1909	melanoma		ISO	RGD:1316751	D	RGD:11554173	20170110	CTD		CTD Direct Evidence: marker/mechanism	PMID:26640592
1307513	Pmel	premelanosome protein	gene	DOID:1909	melanoma		ISO	RGD:1316751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307513	Pmel	premelanosome protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307513	Pmel	premelanosome protein	gene	DOID:4362	cervical cancer		ISO	RGD:1316751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307513	Pmel	premelanosome protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316751	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307513	Pmel	premelanosome protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307513	Pmel	premelanosome protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1316751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307514	Akr1c8	aldo-keto reductase family 1 member C8	gene	DOID:4362	cervical cancer		ISO	RGD:1316753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307514	Akr1c8	aldo-keto reductase family 1 member C8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307515	Adam11	ADAM metallopeptidase domain 11	gene	DOID:10534	stomach cancer		ISO	RGD:1316754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307515	Adam11	ADAM metallopeptidase domain 11	gene	DOID:1115	sarcoma		ISO	RGD:1316754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307515	Adam11	ADAM metallopeptidase domain 11	gene	DOID:1324	lung cancer		ISO	RGD:1316754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307515	Adam11	ADAM metallopeptidase domain 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307515	Adam11	ADAM metallopeptidase domain 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1316754	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307515	Adam11	ADAM metallopeptidase domain 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307515	Adam11	ADAM metallopeptidase domain 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316754	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1307515	Adam11	ADAM metallopeptidase domain 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307515	Adam11	ADAM metallopeptidase domain 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307516	Ccdc32	coiled-coil domain containing 32	gene	DOID:1909	melanoma		ISO	RGD:1605016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307516	Ccdc32	coiled-coil domain containing 32	gene	DOID:3070	high grade glioma		ISO	RGD:1605016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307516	Ccdc32	coiled-coil domain containing 32	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307516	Ccdc32	coiled-coil domain containing 32	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307516	Ccdc32	coiled-coil domain containing 32	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307516	Ccdc32	coiled-coil domain containing 32	gene	DOID:9007327	Cardiofacioneurodevelopmental Syndrome		ISO	RGD:1605016	D	RGD:7240710	20201230	OMIM			
1307516	Ccdc32	coiled-coil domain containing 32	gene	DOID:9007327	Cardiofacioneurodevelopmental Syndrome		ISO	RGD:1605016	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIOFACIONEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome	PMID:25741868
1307521	Klhl6	kelch-like family member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307521	Klhl6	kelch-like family member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307521	Klhl6	kelch-like family member 6	gene	DOID:1324	lung cancer		ISO	RGD:1316764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307521	Klhl6	kelch-like family member 6	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1307521	Klhl6	kelch-like family member 6	gene	DOID:2377	multiple sclerosis		ISO	RGD:1316764	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
1307521	Klhl6	kelch-like family member 6	gene	DOID:3275	thymoma		ISO	RGD:1316764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307521	Klhl6	kelch-like family member 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307521	Klhl6	kelch-like family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307521	Klhl6	kelch-like family member 6	gene	DOID:9006737	Monoclonal B-Cell Lymphocytosis		ISO	RGD:1316764	D	RGD:8554872	20160322	ClinVar		ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis	
1307521	Klhl6	kelch-like family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307522	Rnps1	RNA binding protein with serine rich domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307522	Rnps1	RNA binding protein with serine rich domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307522	Rnps1	RNA binding protein with serine rich domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1316766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307522	Rnps1	RNA binding protein with serine rich domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1316766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307522	Rnps1	RNA binding protein with serine rich domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307522	Rnps1	RNA binding protein with serine rich domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307522	Rnps1	RNA binding protein with serine rich domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307522	Rnps1	RNA binding protein with serine rich domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307524	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316770	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307524	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1316770	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307524	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1316770	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307524	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:1324	lung cancer		ISO	RGD:1316770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307524	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:1909	melanoma		ISO	RGD:1316770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307524	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307524	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316770	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307524	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307524	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307524	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307524	Entrep1	endosomal transmembrane epsin interactor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307526	Sltm	SAFB-like, transcription modulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307526	Sltm	SAFB-like, transcription modulator	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1605637	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Jeune Syndrome	
1307526	Sltm	SAFB-like, transcription modulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307526	Sltm	SAFB-like, transcription modulator	gene	DOID:10534	stomach cancer		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307526	Sltm	SAFB-like, transcription modulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307526	Sltm	SAFB-like, transcription modulator	gene	DOID:1115	sarcoma		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307526	Sltm	SAFB-like, transcription modulator	gene	DOID:1909	melanoma		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307526	Sltm	SAFB-like, transcription modulator	gene	DOID:3070	high grade glioma		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307526	Sltm	SAFB-like, transcription modulator	gene	DOID:4362	cervical cancer		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307526	Sltm	SAFB-like, transcription modulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307526	Sltm	SAFB-like, transcription modulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307526	Sltm	SAFB-like, transcription modulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307526	Sltm	SAFB-like, transcription modulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307527	Hic1	HIC ZBTB transcriptional repressor 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:1316774	D	RGD:11554173	20170411	CTD		CTD Direct Evidence: marker/mechanism	PMID:18347096
1307527	Hic1	HIC ZBTB transcriptional repressor 1	gene	DOID:0060469	Miller-Dieker lissencephaly syndrome		ISS	RGD:1316775	D	RGD:13592920	20180518	MouseDO		OMIM:247200	
1307527	Hic1	HIC ZBTB transcriptional repressor 1	gene	DOID:4448	macular degeneration		ISO	RGD:1316774	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30742112
1307527	Hic1	HIC ZBTB transcriptional repressor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307527	Hic1	HIC ZBTB transcriptional repressor 1	gene	DOID:9003896	Polyps		ISO	RGD:1316774	D	RGD:11554173	20170411	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297660
1307527	Hic1	HIC ZBTB transcriptional repressor 1	gene	DOID:9006796	Gastrointestinal Neoplasms		ISO	RGD:1316774	D	RGD:11554173	20170411	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297660
1307527	Hic1	HIC ZBTB transcriptional repressor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316774	D	RGD:11554173	20170411	CTD		CTD Direct Evidence: marker/mechanism	PMID:20154726
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:0050902	medulloblastoma		ISO	RGD:1316776	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:0050902	medulloblastoma		ISO	RGD:1316776	D	RGD:9587481|PMID:19270706	20141015	RGD		mRNA:increased expression:brain (human)	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:0060001	withdrawal disorder	susceptibility	ISO	RGD:1316776	D	RGD:9587485|PMID:22072270	20141015	RGD		DNA:snps:multiple (human)	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:0060058	lymphoma		ISO	RGD:1316776	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:0060221	Maffucci syndrome		ISO	RGD:1316776	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Maffucci syndrome	PMID:25741868
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1316776	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29438700
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1316776	D	RGD:9587486|PMID:20127736	20141015	RGD		mRNA:increased expression:prostate gland (human)	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:10534	stomach cancer		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:11934	head and neck cancer	susceptibility	ISO	RGD:1316776	D	RGD:9587748|PMID:19339270	20141016	RGD		DNA:snps:cds, intron:p.N396D (rs2296067), IVS10G>T (rs818912) (human)	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:12849	autistic disorder		ISO	RGD:1316776	D	RGD:9587484|PMID:20410850	20141015	RGD		DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:1324	lung cancer		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:1612	breast cancer	severity	ISO	RGD:1316776	D	RGD:9587745|PMID:24952432	20141016	RGD		DNA:snp:cds:p.D396N (rs2296067) (human)	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:1909	melanoma		ISO	RGD:1316776	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29438700
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:1909	melanoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:3275	thymoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1316776	D	RGD:9587746|PMID:24224128	20141016	RGD		protein:increased expression:esophageal epithelium, nucleus (human)	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:1316776	D	RGD:9587752|PMID:15805246	20141016	RGD		DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:4362	cervical cancer		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1316776	D	RGD:9587741|PMID:22483639	20141016	RGD		DNA:deletion:cds (human)	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:4624	Ollier disease		ISO	RGD:1316776	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Enchondromatosis	PMID:25741868
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:5041	esophageal cancer		ISO	RGD:1316776	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:5517	stomach carcinoma	severity	ISO	RGD:1316776	D	RGD:9588260|PMID:24418035	20141023	RGD		protein:increased expression:stomach (human)	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1316776	D	RGD:11554173	20260203	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:9004118	Experimental Melanoma		ISO	RGD:1316776	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29438700
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316776	D	RGD:9587482|PMID:23129632	20141015	RGD		human gene in a mouse model	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:1316776	D	RGD:9587479|PMID:19784073	20141015	RGD		mRNA:increased expression:breast (human)	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307528	Kdm4c	lysine demethylase 4C	gene	DOID:986	alopecia areata		ISO	RGD:1316776	D	RGD:9587460|PMID:21936853	20141015	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	
1307531	Mrpl47	mitochondrial ribosomal protein L47	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307531	Mrpl47	mitochondrial ribosomal protein L47	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307531	Mrpl47	mitochondrial ribosomal protein L47	gene	DOID:5041	esophageal cancer		ISO	RGD:1316780	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307531	Mrpl47	mitochondrial ribosomal protein L47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307531	Mrpl47	mitochondrial ribosomal protein L47	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307531	Mrpl47	mitochondrial ribosomal protein L47	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:0080600	COVID-19		ISO	RGD:1316782	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:0111955	immunodeficiency 27A		ISO	RGD:1316782	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 27A	PMID:28492532
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:0111995	immunodeficiency 28		ISO	RGD:1316782	D	RGD:7240710	20170503	OMIM			
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:0111995	immunodeficiency 28		ISO	RGD:1316782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 28 | ClinVar Annotator: match by term: Immunodeficiency 28	PMID:16690980|PMID:16885196|PMID:23161749|PMID:25135595|PMID:25741868|PMID:27522156|PMID:28492532|PMID:31222290
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:13272	Klebsiella pneumonia	disease_progression	ISO	RGD:1316782	D	RGD:628360927|PMID:38898888	20251003	RGD		mRNA:increased expression:monocyte	
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:1682	congenital heart disease	susceptibility	ISO	RGD:1316782	D	RGD:628360925|PMID:33260695	20251003	RGD		DNA:SNP: :rs2834213	
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:2957	pulmonary tuberculosis	no_association	ISO	RGD:1316782	D	RGD:628360906|PMID:25815589	20251003	RGD		DNA:SNPs: :	
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:2957	pulmonary tuberculosis	onset	ISO	RGD:1316782	D	RGD:628360903|PMID:22057826	20251002	RGD		DNA:SNP:intron:rs2834213	
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316782	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:630	genetic disease		ISO	RGD:1316782	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1316782	D	RGD:11554173	20250304	CTD		CTD Direct Evidence: marker/mechanism	PMID:23982189
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:9004697	Interferon Gamma, Receptor 1, Deficiency		ISO	RGD:1316782	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Interferon gamma receptor deficiency	PMID:16690980|PMID:16885196|PMID:25741868|PMID:28492532
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:9408	acute myocardial infarction	susceptibility	ISO	RGD:1316782	D	RGD:628360902|PMID:29434065	20251002	RGD		DNA:SNP:intron:rs9978223	
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:9415	allergic asthma	susceptibility	ISO	RGD:1316782	D	RGD:628360924|PMID:25994869	20251003	RGD		DNA:SNP: :rs2012075	
1307532	Ifngr2	interferon gamma receptor 2	gene	DOID:9744	type 1 diabetes mellitus		ISS	RGD:1316783	D	RGD:13592920	20180518	MouseDO		OMIM:222100	
1307534	Parp9	poly (ADP-ribose) polymerase family, member 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307534	Parp9	poly (ADP-ribose) polymerase family, member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307534	Parp9	poly (ADP-ribose) polymerase family, member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307534	Parp9	poly (ADP-ribose) polymerase family, member 9	gene	DOID:1115	sarcoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307534	Parp9	poly (ADP-ribose) polymerase family, member 9	gene	DOID:1324	lung cancer		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307534	Parp9	poly (ADP-ribose) polymerase family, member 9	gene	DOID:1909	melanoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307534	Parp9	poly (ADP-ribose) polymerase family, member 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307534	Parp9	poly (ADP-ribose) polymerase family, member 9	gene	DOID:3275	thymoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307534	Parp9	poly (ADP-ribose) polymerase family, member 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307534	Parp9	poly (ADP-ribose) polymerase family, member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1347584	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307534	Parp9	poly (ADP-ribose) polymerase family, member 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307534	Parp9	poly (ADP-ribose) polymerase family, member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307534	Parp9	poly (ADP-ribose) polymerase family, member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307534	Parp9	poly (ADP-ribose) polymerase family, member 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347584	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:0050700	cardiomyopathy		ISS	RGD:1316787	D	RGD:13592920	20180518	MouseDO			
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:0050855	renal fibrosis		ISO	RGD:1316787	D	RGD:7243102|PMID:18037995	20130501	RGD			
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316786	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:0060327	omphalocele		ISS	RGD:1316787	D	RGD:13592920	20180518	MouseDO		OMIM:164750	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:0080169	tricuspid atresia		ISO	RGD:1316786	D	RGD:8554872	20200407	ClinVar		ClinVar Annotator: match by term: Tricuspid atresia	PMID:25741868
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:0080751	keratosis pilaris atrophicans		ISO	RGD:1316786	D	RGD:7240710	20190315	OMIM			
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:0080751	keratosis pilaris atrophicans		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keratosis pilaris atrophicans | ClinVar Annotator: match by term: LRP1-related condition	PMID:25741868|PMID:28492532|PMID:36307211
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1316786	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1316786	D	RGD:1358747|PMID:9635959	19990101	RGD		DNA:SNP:exon 3:C>T (human)	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1316787	D	RGD:13800553|PMID:19150622	20181015	RGD			
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:10652	Alzheimer's disease		ISS	RGD:1316787	D	RGD:13592920	20180518	MouseDO		OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:10652	Alzheimer's disease	treatment	IEP		D	RGD:13799352|PMID:29115637	20181010	RGD			
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:11044	gastroschisis		ISS	RGD:1316787	D	RGD:13592920	20180518	MouseDO		OMIM:230750	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:11446	sciatic neuropathy		IEP		D	RGD:13792690|PMID:26656067	20180920	RGD			
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:1316786	D	RGD:13800561|PMID:18060043	20181016	RGD			
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:12351	alcoholic hepatitis		IEP		D	RGD:597830170|PMID:36187787	20250307	RGD		protein:decreased expression:liver	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:12783	migraine without aura		ISO	RGD:1316786	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22683712
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:1574	alcohol use disorder		IEP		D	RGD:597830170|PMID:36187787	20250307	RGD		protein:decreased expression:liver	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:1316787	D	RGD:1581910|PMID:14739216	20061030	RGD			
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:2349	arteriosclerosis	susceptibility	ISO	RGD:1316787	D	RGD:1625012|PMID:17303763	20070516	RGD		associated with Hypercholesterolemia	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:3827	congenital diaphragmatic hernia		ISS	RGD:1316787	D	RGD:13592920	20180719	MouseDO		OMIM:142340 | OMIM:222400 | OMIM:610187	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:440	neuromuscular disease		ISO	RGD:1316786	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316786	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:5419	schizophrenia		ISO	RGD:1316786	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1316786	D	RGD:1581913|PMID:12402342	20061030	RGD			
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:6364	migraine		ISO	RGD:1316786	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21666692
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:8634	prostate carcinoma in situ		IEP		D	RGD:1625030|PMID:14623925	20070517	RGD		protein:increased expression:prostate gland	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	IDA		D	RGD:13800520|PMID:23867460	20181012	RGD			
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1316786	D	RGD:1581911|PMID:15121769	20061030	RGD			
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1316787	D	RGD:13800552|PMID:19299462	20181015	RGD		protein:increased expression:cerebellum, spinal cord	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1316787	D	RGD:13800515|PMID:26237273	20181011	RGD		associated with Carbon Tetrachloride Poisoning	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:9007748	Retinal Neovascularization		IEP		D	RGD:1625022|PMID:16979164	20070516	RGD		protein:increased expression:retina, muller cell	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316786	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1316786	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:9008735	Developmental Dysplasia of the Hip 3		ISO	RGD:1316786	D	RGD:7240710	20240131	OMIM			
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:9008735	Developmental Dysplasia of the Hip 3		ISO	RGD:1316786	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DYSPLASIA OF THE HIP 3 | ClinVar Annotator: match by term: Developmental dysplasia of the hip 3	PMID:25741868
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307535	Lrp1	LDL receptor related protein 1	gene	DOID:9351	diabetes mellitus	treatment	IDA		D	RGD:13800521|PMID:22889684	20181012	RGD			
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1316788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:1115	sarcoma		ISO	RGD:1316788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:1909	melanoma		ISO	RGD:1316788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:3275	thymoma		ISO	RGD:1316788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1316788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1316788	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1316788	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: marker/mechanism	PMID:34022224
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307536	Cse1l	chromosome segregation 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307538	Txndc11	thioredoxin domain containing 11	gene	DOID:10534	stomach cancer		ISO	RGD:1348266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307538	Txndc11	thioredoxin domain containing 11	gene	DOID:1324	lung cancer		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307538	Txndc11	thioredoxin domain containing 11	gene	DOID:1909	melanoma		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307538	Txndc11	thioredoxin domain containing 11	gene	DOID:3275	thymoma		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307538	Txndc11	thioredoxin domain containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307538	Txndc11	thioredoxin domain containing 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1348266	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307538	Txndc11	thioredoxin domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307538	Txndc11	thioredoxin domain containing 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307538	Txndc11	thioredoxin domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307538	Txndc11	thioredoxin domain containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307538	Txndc11	thioredoxin domain containing 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307539	Angpt4	angiopoietin 4	gene	DOID:1324	lung cancer		ISO	RGD:1316792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1307539	Angpt4	angiopoietin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316792	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307539	Angpt4	angiopoietin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:10534	stomach cancer		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:1115	sarcoma		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:1324	lung cancer		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:2394	ovarian cancer		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:3070	high grade glioma		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:3275	thymoma		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:4362	cervical cancer		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:5041	esophageal cancer		ISO	RGD:2291816	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307540	Tnrc18	trinucleotide repeat containing 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2291816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307541	Hipk4	homeodomain interacting protein kinase 4	gene	DOID:10283	prostate cancer		ISO	RGD:1316795	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307541	Hipk4	homeodomain interacting protein kinase 4	gene	DOID:10283	prostate cancer		ISO	RGD:1316795	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307541	Hipk4	homeodomain interacting protein kinase 4	gene	DOID:12336	male infertility		ISO	RGD:1316795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Male infertility	
1307541	Hipk4	homeodomain interacting protein kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307541	Hipk4	homeodomain interacting protein kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307541	Hipk4	homeodomain interacting protein kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307542	Luc7l1	LUC7 pre-mRNA splicing factor like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307542	Luc7l1	LUC7 pre-mRNA splicing factor like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307542	Luc7l1	LUC7 pre-mRNA splicing factor like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307542	Luc7l1	LUC7 pre-mRNA splicing factor like 1	gene	DOID:1115	sarcoma		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307542	Luc7l1	LUC7 pre-mRNA splicing factor like 1	gene	DOID:1909	melanoma		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307542	Luc7l1	LUC7 pre-mRNA splicing factor like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307542	Luc7l1	LUC7 pre-mRNA splicing factor like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307542	Luc7l1	LUC7 pre-mRNA splicing factor like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307542	Luc7l1	LUC7 pre-mRNA splicing factor like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307543	Fbxo33	F-box protein 33	gene	DOID:10534	stomach cancer		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307543	Fbxo33	F-box protein 33	gene	DOID:1324	lung cancer		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307543	Fbxo33	F-box protein 33	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307543	Fbxo33	F-box protein 33	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307543	Fbxo33	F-box protein 33	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307543	Fbxo33	F-box protein 33	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307543	Fbxo33	F-box protein 33	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307544	Cnksr3	Cnksr family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307544	Cnksr3	Cnksr family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307544	Cnksr3	Cnksr family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1316799	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307544	Cnksr3	Cnksr family member 3	gene	DOID:1909	melanoma		ISO	RGD:1316799	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307544	Cnksr3	Cnksr family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307544	Cnksr3	Cnksr family member 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307544	Cnksr3	Cnksr family member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307544	Cnksr3	Cnksr family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307544	Cnksr3	Cnksr family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307545	Anxa13	annexin A13	gene	DOID:1115	sarcoma		ISO	RGD:1316801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307545	Anxa13	annexin A13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307545	Anxa13	annexin A13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307545	Anxa13	annexin A13	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307545	Anxa13	annexin A13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307547	Paxip1	PAX interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307547	Paxip1	PAX interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307547	Paxip1	PAX interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307547	Paxip1	PAX interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307547	Paxip1	PAX interacting protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307547	Paxip1	PAX interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316804	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307547	Paxip1	PAX interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307547	Paxip1	PAX interacting protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307547	Paxip1	PAX interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307547	Paxip1	PAX interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307547	Paxip1	PAX interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307549	Dctn6	dynactin subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307549	Dctn6	dynactin subunit 6	gene	DOID:10534	stomach cancer		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307549	Dctn6	dynactin subunit 6	gene	DOID:1324	lung cancer		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307549	Dctn6	dynactin subunit 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307549	Dctn6	dynactin subunit 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307549	Dctn6	dynactin subunit 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307550	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307550	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:10534	stomach cancer		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307550	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307550	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:1115	sarcoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307550	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:1324	lung cancer		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307550	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307550	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307550	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:4362	cervical cancer		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307550	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307550	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307550	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1307550	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307550	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307550	Sugt1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:19839040|PMID:30653986|PMID:35181035
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:1347443	D	RGD:155631271|PMID:11358845	20221028	RGD		mRNA:increased expression:colorectum (human)	
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:0060260	ptosis		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:19839040|PMID:30653986|PMID:35181035
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:0111807	syndromic microphthalmia 9		ISO	RGD:1347443	D	RGD:11554173	20200526	CTD		CTD Direct Evidence: marker/mechanism	PMID:17503335|PMID:18316031
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:0111807	syndromic microphthalmia 9		ISO	RGD:1347443	D	RGD:155631273|PMID:19309693	20221028	RGD		DNA:mutations:multiple (human)	
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:0111807	syndromic microphthalmia 9		ISO	RGD:1347443	D	RGD:7240710	20200527	OMIM			
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:0111807	syndromic microphthalmia 9		ISO	RGD:1347443	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 9 | ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9 | ClinVar Annotator: match by term: Microphthalmia, syndromic 9 | ClinVar Annotator: match by term: STRA6-related condition	PMID:16199547|PMID:17273977|PMID:19309693|PMID:19839040|PMID:22283518|PMID:25044680|PMID:25741868|PMID:26893459|PMID:28492532|PMID:30639323|PMID:30653986|PMID:35181035
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:19839040|PMID:30653986|PMID:35181035
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:10534	stomach cancer		ISO	RGD:1347443	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:1059	intellectual disability		ISO	RGD:1347443	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:10629	microphthalmia		ISO	RGD:1347443	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316031
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:10629	microphthalmia		ISO	RGD:1347443	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:11162	respiratory failure		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:19839040|PMID:30653986|PMID:35181035
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:11830	myopia		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:19839040|PMID:30653986|PMID:35181035
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:13042	persistent fetal circulation syndrome		ISO	RGD:1347443	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:1324	lung cancer		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1347443	D	RGD:155631292|PMID:30986821	20221031	RGD		mRNA:decreased expression:iris, retina (human)	
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:1682	congenital heart disease		ISO	RGD:1347443	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:1826	epilepsy		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:19839040|PMID:30653986|PMID:35181035
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:1891	optic nerve disease		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:19839040|PMID:30653986|PMID:35181035
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:1909	melanoma		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:1969	cerebral palsy		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:19839040|PMID:30653986|PMID:35181035
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:480	movement disease		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:19839040|PMID:30653986|PMID:35181035
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:5041	esophageal cancer		ISO	RGD:1347443	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:630	genetic disease		ISO	RGD:1347443	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:7998	hyperthyroidism		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:19839040|PMID:30653986|PMID:35181035
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:850	lung disease		ISO	RGD:1347443	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:8947	diabetic retinopathy	treatment	ISO	RGD:1332061	D	RGD:155631301|PMID:30096827	20221031	RGD		associated with type 2 diabetes mellitus	
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:9002049	Anophthalmia		ISO	RGD:1347443	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:9002049	Anophthalmia		ISO	RGD:1347443	D	RGD:155631287|PMID:17273977	20221031	RGD		DNA:frameshift mutation, missense mutations:CDS:multiple (human)	
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:9002642	Isolated Microphthalmia with Coloboma		ISO	RGD:1347443	D	RGD:155631284|PMID:21901792	20221031	RGD		DNA:missense mutation:CDS:p.G204K (human)	
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:1347443	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316031
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:19839040|PMID:30653986|PMID:35181035
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:9003539	Hyperacusis		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:19839040|PMID:30653986|PMID:35181035
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:19839040|PMID:30653986|PMID:35181035
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:155631297|PMID:28734946	20221031	RGD		protein:decreased expression:optic cup (rat)	
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1347443	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316031
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:1347443	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
1307551	Stra6	signaling receptor and transporter of retinol STRA6	gene	DOID:936	brain disease		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:19839040|PMID:30653986|PMID:35181035
1307554	C1h19orf47	similar to human chromosome 19 open reading frame 47	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307554	C1h19orf47	similar to human chromosome 19 open reading frame 47	gene	DOID:10534	stomach cancer		ISO	RGD:1605879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307554	C1h19orf47	similar to human chromosome 19 open reading frame 47	gene	DOID:1115	sarcoma		ISO	RGD:1605879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307554	C1h19orf47	similar to human chromosome 19 open reading frame 47	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307554	C1h19orf47	similar to human chromosome 19 open reading frame 47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307554	C1h19orf47	similar to human chromosome 19 open reading frame 47	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307556	Fech	ferrochelatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307556	Fech	ferrochelatase	gene	DOID:13270	erythropoietic protoporphyria		ISO	RGD:1316819	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10464147|PMID:12950064|PMID:15284838|PMID:15793285|PMID:17600043|PMID:29906468
1307556	Fech	ferrochelatase	gene	DOID:13270	erythropoietic protoporphyria		ISO	RGD:1316819	D	RGD:11556165|PMID:26789144	20190822	RGD		DNA:mutations:introns:IVS-48C,IVS1-23T(human)	
1307556	Fech	ferrochelatase	gene	DOID:13270	erythropoietic protoporphyria		ISO	RGD:1316819	D	RGD:14700883|PMID:26280465	20190822	RGD		DNA:mutation:introns:IVS3-48C(human)	
1307556	Fech	ferrochelatase	gene	DOID:13270	erythropoietic protoporphyria		ISO	RGD:1316819	D	RGD:14700886|PMID:10942404	20190822	RGD		DNA:mutations:exons:	
1307556	Fech	ferrochelatase	gene	DOID:13270	erythropoietic protoporphyria		ISO	RGD:1316819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ferrochelatase deficiency	PMID:25741868|PMID:28492532
1307556	Fech	ferrochelatase	gene	DOID:13270	erythropoietic protoporphyria		ISO	RGD:1316820	D	RGD:14700889|PMID:19787086	20190822	RGD			
1307556	Fech	ferrochelatase	gene	DOID:13270	erythropoietic protoporphyria		ISS	RGD:1316820	D	RGD:13592920	20230718	MouseDO		OMIM:177000 | OMIM:300752	
1307556	Fech	ferrochelatase	gene	DOID:13271	cutaneous porphyria		ISO	RGD:1316819	D	RGD:1598932|PMID:8601739	20070103	RGD		DNA:transitions, frameshift mutations:exon:multiple (human)	
1307556	Fech	ferrochelatase	gene	DOID:13271	cutaneous porphyria		ISO	RGD:1316819	D	RGD:4145285|PMID:1184741	20101028	RGD		protein:decreased activity:skin fibroblast, liver (human)	
1307556	Fech	ferrochelatase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316819	D	RGD:14700888|PMID:28075030	20190822	RGD		mRNA:decreased expression:colon	
1307556	Fech	ferrochelatase	gene	DOID:3275	thymoma		ISO	RGD:1316819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307556	Fech	ferrochelatase	gene	DOID:4138	bile duct disease		ISO	RGD:1316819	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10464147
1307556	Fech	ferrochelatase	gene	DOID:4362	cervical cancer		ISO	RGD:1316819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307556	Fech	ferrochelatase	gene	DOID:5041	esophageal cancer		ISO	RGD:1316819	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307556	Fech	ferrochelatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307556	Fech	ferrochelatase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307556	Fech	ferrochelatase	gene	DOID:630	genetic disease		ISO	RGD:1316819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307556	Fech	ferrochelatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307556	Fech	ferrochelatase	gene	DOID:9000784	Fibrosis		ISO	RGD:1316819	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10464147
1307556	Fech	ferrochelatase	gene	DOID:9004435	Erythropoietic Protoporphyria 1		ISO	RGD:1316819	D	RGD:7240710	20190327	OMIM			
1307556	Fech	ferrochelatase	gene	DOID:9004435	Erythropoietic Protoporphyria 1		ISO	RGD:1316819	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FECH-related condition | ClinVar Annotator: match by term: Increased erythrocyte protoporphyrin concentration | ClinVar Annotator: match by term: PROTOPORPHYRIA, ERYTHROPOIETIC, 1 | ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1	PMID:10417624|PMID:10431482|PMID:10942404|PMID:11753383|PMID:12601550|PMID:15286165|PMID:15574461|PMID:16199547|PMID:16385445|PMID:16958804|PMID:17196862|PMID:1729699|PMID:1755842|PMID:17576681|PMID:17711525|PMID:18758989|PMID:18787536|PMID:19298273|PMID:20105171|PMID:20412370|PMID:21132468|PMID:22591014|PMID:23016163|PMID:23364466|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28075030|PMID:28093505|PMID:28492532|PMID:29941360|PMID:30454868|PMID:30594473|PMID:31304091|PMID:33021473|PMID:8151124|PMID:8242081|PMID:8276828|PMID:8481408|PMID:8601739|PMID:9347801|PMID:9536098|PMID:9585598|PMID:9649563
1307556	Fech	ferrochelatase	gene	DOID:9004898	Jaundice		ISO	RGD:1316819	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:11753383|PMID:16385445|PMID:16958804|PMID:1729699|PMID:18758989|PMID:20105171|PMID:21132468|PMID:22591014|PMID:23016163|PMID:23364466|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:29941360|PMID:30594473|PMID:31304091
1307556	Fech	ferrochelatase	gene	DOID:9005584	Hepatic Porphyrias		IEP		D	RGD:4144806|PMID:6721832	20101014	RGD		protein:increased activity:liver (rat)	
1307556	Fech	ferrochelatase	gene	DOID:9006976	Erythema		ISO	RGD:1316819	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Erythema	PMID:11753383|PMID:16385445|PMID:16958804|PMID:1729699|PMID:18758989|PMID:20105171|PMID:21132468|PMID:22591014|PMID:23016163|PMID:23364466|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:29941360|PMID:30594473|PMID:31304091
1307556	Fech	ferrochelatase	gene	DOID:9009003	Erythropoietic Protoporphyria 2		ISO	RGD:1316819	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria	PMID:11753383|PMID:16385445|PMID:16958804|PMID:1729699|PMID:18758989|PMID:20105171|PMID:21132468|PMID:22591014|PMID:23016163|PMID:23364466|PMID:24033266|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:29941360|PMID:30594473|PMID:31304091
1307556	Fech	ferrochelatase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:0061185	autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia		ISO	RGD:1316821	D	RGD:7240710	20240925	OMIM			
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:0061185	autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia		ISO	RGD:1316821	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATORY SYNDROME WITH CYTOPENIA, HYPERZINCEMIA, AND HYPERCALPROTECTINEMIA | ClinVar Annotator: match by term: HZHC SYNDROME | ClinVar Annotator: match by term: Hyperzincemia with functional zinc depletion | ClinVar Annotator: match by term: PSTPIP1-related condition	PMID:11971877|PMID:16527883|PMID:17576681|PMID:20506269|PMID:22161697|PMID:22513199|PMID:25741868|PMID:25845478|PMID:26025129|PMID:28492532|PMID:28628471|PMID:28960754|PMID:29150835|PMID:30198636|PMID:31119601|PMID:31789267|PMID:32054657|PMID:32441320|PMID:33597285|PMID:34399798|PMID:34620178|PMID:9536098
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:0080519	PAPA syndrome		ISO	RGD:1316821	D	RGD:11554173	20190312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:0080519	PAPA syndrome		ISO	RGD:1316821	D	RGD:7240710	20130425	OMIM			
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:0080519	PAPA syndrome		ISO	RGD:1316821	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PAPA SYNDROME | ClinVar Annotator: match by term: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	PMID:11971877|PMID:14595024|PMID:15580218|PMID:16527883|PMID:19673875|PMID:19934105|PMID:20506269|PMID:22161697|PMID:22513199|PMID:25741868|PMID:25845478|PMID:26025129|PMID:28492532|PMID:34273117
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:11156	anhidrosis		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anhidrosis	PMID:28492532
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:13241	Behcet's disease		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Behcet disease	PMID:25741868|PMID:27577878|PMID:28492532|PMID:28814775
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:14286	neurogenic arthropathy		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuropathic arthropathy	PMID:28492532
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:2280	hidradenitis suppurativa		ISO	RGD:1316821	D	RGD:11554173	20190312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:2703	synovitis		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Synovitis	PMID:28492532
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:2841	asthma		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1316821	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:25741868|PMID:27577878|PMID:28492532|PMID:30290665|PMID:35482138|PMID:37013170
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:25741868|PMID:28492532|PMID:35482138
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28492532
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28492532
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:25741868
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316821	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:630	genetic disease		ISO	RGD:1316821	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:6543	acne		ISO	RGD:1316821	D	RGD:11554173	20190312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:848	arthritis		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:28492532
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:8553	pyoderma gangrenosum		ISO	RGD:1316821	D	RGD:11554173	20190312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316821	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:9002944	Hyperzincemia and Hypercalprotectinemia		ISO	RGD:1316821	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperzincemia and hypercalprotectinemia	PMID:11971877|PMID:16527883|PMID:20506269|PMID:22161697|PMID:22513199|PMID:25741868|PMID:25845478|PMID:26025129|PMID:28492532|PMID:28628471|PMID:28960754|PMID:29150835|PMID:30198636|PMID:31119601|PMID:31789267|PMID:32054657|PMID:32441320|PMID:33597285|PMID:34399798|PMID:34620178
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:9006215	Exfoliative Dermatitis		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Erythroderma	PMID:28492532
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1307557	Pstpip1	proline-serine-threonine phosphatase-interacting protein 1	gene	DOID:987	alopecia		ISO	RGD:1316821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:28492532
1307558	Rcc1l	RCC1 like	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:1316823	D	RGD:1580600|PMID:12073013	19990101	RGD			
1307558	Rcc1l	RCC1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1316823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307558	Rcc1l	RCC1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1316823	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307558	Rcc1l	RCC1 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307558	Rcc1l	RCC1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307559	Ranbp3l	RAN binding protein 3-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307559	Ranbp3l	RAN binding protein 3-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307559	Ranbp3l	RAN binding protein 3-like	gene	DOID:1324	lung cancer		ISO	RGD:1602423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307559	Ranbp3l	RAN binding protein 3-like	gene	DOID:3275	thymoma		ISO	RGD:1602423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307559	Ranbp3l	RAN binding protein 3-like	gene	DOID:9256	colorectal cancer		ISO	RGD:1602423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307560	Med15	mediator complex subunit 15	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1316826	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
1307560	Med15	mediator complex subunit 15	gene	DOID:10534	stomach cancer		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307560	Med15	mediator complex subunit 15	gene	DOID:1115	sarcoma		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307560	Med15	mediator complex subunit 15	gene	DOID:1909	melanoma		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307560	Med15	mediator complex subunit 15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307560	Med15	mediator complex subunit 15	gene	DOID:4362	cervical cancer		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307560	Med15	mediator complex subunit 15	gene	DOID:5419	schizophrenia		ISO	RGD:1316826	D	RGD:1358555|PMID:12497610	19990101	RGD			
1307560	Med15	mediator complex subunit 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307560	Med15	mediator complex subunit 15	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307560	Med15	mediator complex subunit 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307560	Med15	mediator complex subunit 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307561	Tmem50b	transmembrane protein 50B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307561	Tmem50b	transmembrane protein 50B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307561	Tmem50b	transmembrane protein 50B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307561	Tmem50b	transmembrane protein 50B	gene	DOID:1115	sarcoma		ISO	RGD:1316828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307561	Tmem50b	transmembrane protein 50B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307561	Tmem50b	transmembrane protein 50B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307561	Tmem50b	transmembrane protein 50B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307561	Tmem50b	transmembrane protein 50B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307561	Tmem50b	transmembrane protein 50B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307561	Tmem50b	transmembrane protein 50B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307561	Tmem50b	transmembrane protein 50B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307562	Hddc2	HD domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307562	Hddc2	HD domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1316830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307562	Hddc2	HD domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307562	Hddc2	HD domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307566	Rasal2	RAS protein activator like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307566	Rasal2	RAS protein activator like 2	gene	DOID:10283	prostate cancer		ISO	RGD:1316836	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307566	Rasal2	RAS protein activator like 2	gene	DOID:10283	prostate cancer		ISO	RGD:1316836	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307566	Rasal2	RAS protein activator like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307566	Rasal2	RAS protein activator like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307566	Rasal2	RAS protein activator like 2	gene	DOID:12849	autistic disorder		ISO	RGD:1316836	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1307566	Rasal2	RAS protein activator like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307566	Rasal2	RAS protein activator like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316836	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307566	Rasal2	RAS protein activator like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307566	Rasal2	RAS protein activator like 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1316836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307566	Rasal2	RAS protein activator like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307566	Rasal2	RAS protein activator like 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1316836	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:34826200
1307566	Rasal2	RAS protein activator like 2	gene	DOID:9000918	Disease Progression		ISO	RGD:1316836	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:34826200
1307566	Rasal2	RAS protein activator like 2	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1316836	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:34826200
1307566	Rasal2	RAS protein activator like 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1316836	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:34826200
1307566	Rasal2	RAS protein activator like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307566	Rasal2	RAS protein activator like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307566	Rasal2	RAS protein activator like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307568	Rac2	Rac family small GTPase 2	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1316839	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26457648
1307568	Rac2	Rac family small GTPase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1316839	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19783987
1307568	Rac2	Rac family small GTPase 2	gene	DOID:0112061	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia		ISO	RGD:1316839	D	RGD:7240710	20200902	OMIM			
1307568	Rac2	Rac family small GTPase 2	gene	DOID:0112061	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia		ISO	RGD:1316839	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA | ClinVar Annotator: match by term: Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	PMID:25741868|PMID:28492532|PMID:30654050|PMID:38194689
1307568	Rac2	Rac family small GTPase 2	gene	DOID:0112061	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia		ISS	RGD:1316840	D	RGD:13592920	20230718	MouseDO		OMIM:618986	
1307568	Rac2	Rac family small GTPase 2	gene	DOID:0112062	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia		ISO	RGD:1316839	D	RGD:7240710	20200902	OMIM			
1307568	Rac2	Rac family small GTPase 2	gene	DOID:0112062	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia		ISO	RGD:1316839	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	PMID:25741868|PMID:28492532
1307568	Rac2	Rac family small GTPase 2	gene	DOID:0112064	immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis		ISO	RGD:1316839	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307568	Rac2	Rac family small GTPase 2	gene	DOID:0112064	immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis		ISO	RGD:1316839	D	RGD:7240710	20130221	OMIM			
1307568	Rac2	Rac family small GTPase 2	gene	DOID:0112064	immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS | ClinVar Annotator: match by term: Neutrophil immunodeficiency syndrome	PMID:10758162|PMID:10961859|PMID:11278678|PMID:14676277|PMID:17576681|PMID:21167572|PMID:25741868|PMID:28492532|PMID:33188496|PMID:36459342|PMID:9536098
1307568	Rac2	Rac family small GTPase 2	gene	DOID:10283	prostate cancer		ISO	RGD:1316839	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307568	Rac2	Rac family small GTPase 2	gene	DOID:10283	prostate cancer		ISO	RGD:1316839	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307568	Rac2	Rac family small GTPase 2	gene	DOID:1115	sarcoma		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307568	Rac2	Rac family small GTPase 2	gene	DOID:114	heart disease		ISO	RGD:1316839	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16330681
1307568	Rac2	Rac family small GTPase 2	gene	DOID:1909	melanoma		ISO	RGD:1316839	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17145863
1307568	Rac2	Rac family small GTPase 2	gene	DOID:1909	melanoma		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307568	Rac2	Rac family small GTPase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307568	Rac2	Rac family small GTPase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307568	Rac2	Rac family small GTPase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307568	Rac2	Rac family small GTPase 2	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1316839	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Severe Combined Immune Deficiency	PMID:25741868|PMID:28492532|PMID:30723080
1307568	Rac2	Rac family small GTPase 2	gene	DOID:630	genetic disease		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307568	Rac2	Rac family small GTPase 2	gene	DOID:9000918	Disease Progression		ISO	RGD:1316839	D	RGD:11554173	20221101	CTD		CTD Direct Evidence: marker/mechanism	PMID:35331739
1307568	Rac2	Rac family small GTPase 2	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:1316839	D	RGD:6480655|PMID:21382035	20120329	RGD		mRNA:increased expression:gingival tissues (human)	
1307568	Rac2	Rac family small GTPase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316839	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307568	Rac2	Rac family small GTPase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307568	Rac2	Rac family small GTPase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307568	Rac2	Rac family small GTPase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316839	D	RGD:11554173	20221101	CTD		CTD Direct Evidence: marker/mechanism	PMID:35331739
1307569	Eva1c	eva-1 homolog C	gene	DOID:10534	stomach cancer		ISO	RGD:1316841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307569	Eva1c	eva-1 homolog C	gene	DOID:1115	sarcoma		ISO	RGD:1316841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307569	Eva1c	eva-1 homolog C	gene	DOID:3275	thymoma		ISO	RGD:1316841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307569	Eva1c	eva-1 homolog C	gene	DOID:4362	cervical cancer		ISO	RGD:1316841	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307569	Eva1c	eva-1 homolog C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316841	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307569	Eva1c	eva-1 homolog C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307571	Ly6a	lymphocyte antigen 6 family member A	gene	DOID:11476	osteoporosis		ISS	RGD:1316843	D	RGD:13592920	20230413	MouseDO		OMIM:166710	
1307572	Bphl	biphenyl hydrolase like	gene	DOID:10534	stomach cancer		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307572	Bphl	biphenyl hydrolase like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307572	Bphl	biphenyl hydrolase like	gene	DOID:1115	sarcoma		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307572	Bphl	biphenyl hydrolase like	gene	DOID:1324	lung cancer		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307572	Bphl	biphenyl hydrolase like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316844	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307572	Bphl	biphenyl hydrolase like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307572	Bphl	biphenyl hydrolase like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307572	Bphl	biphenyl hydrolase like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307572	Bphl	biphenyl hydrolase like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307572	Bphl	biphenyl hydrolase like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307573	Tmem119	transmembrane protein 119	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307576	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307576	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:1115	sarcoma		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307576	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:1909	melanoma		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307576	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:3275	thymoma		ISO	RGD:1316849	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307576	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307576	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:4362	cervical cancer		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307576	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307576	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307576	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307576	Mrpl48	mitochondrial ribosomal protein L48	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307577	Cfap70	cilia and flagella associated protein 70	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307577	Cfap70	cilia and flagella associated protein 70	gene	DOID:0070311	oligoasthenoteratozoospermia		ISS	RGD:1316852	D	RGD:13592920	20240229	MouseDO			
1307577	Cfap70	cilia and flagella associated protein 70	gene	DOID:0111912	spermatogenic failure 41		ISO	RGD:1316851	D	RGD:7240710	20191211	OMIM			
1307577	Cfap70	cilia and flagella associated protein 70	gene	DOID:0111912	spermatogenic failure 41		ISO	RGD:1316851	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 41	
1307577	Cfap70	cilia and flagella associated protein 70	gene	DOID:1324	lung cancer		ISO	RGD:1316851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307577	Cfap70	cilia and flagella associated protein 70	gene	DOID:3275	thymoma		ISO	RGD:1316851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307577	Cfap70	cilia and flagella associated protein 70	gene	DOID:4362	cervical cancer		ISO	RGD:1316851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307577	Cfap70	cilia and flagella associated protein 70	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307577	Cfap70	cilia and flagella associated protein 70	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307577	Cfap70	cilia and flagella associated protein 70	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:0060249	scoliosis		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:40814602
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:0111127	nephronophthisis 20		ISO	RGD:1604640	D	RGD:7240710	20190315	OMIM			
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:0111127	nephronophthisis 20		ISO	RGD:1604640	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: MAPKBP1-related condition | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 20 | ClinVar Annotator: match by term: Nephronophthisis 20 | ClinVar Annotator: match by term: nephronophthisis 20	PMID:25741868|PMID:28089251|PMID:28492532|PMID:32055034
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604640	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:1604640	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307578	Mapkbp1	mitogen activated protein kinase binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307579	Numbl	NUMB-like, endocytic adaptor protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316854	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307579	Numbl	NUMB-like, endocytic adaptor protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307579	Numbl	NUMB-like, endocytic adaptor protein	gene	DOID:4362	cervical cancer		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307579	Numbl	NUMB-like, endocytic adaptor protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307579	Numbl	NUMB-like, endocytic adaptor protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316854	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307579	Numbl	NUMB-like, endocytic adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307579	Numbl	NUMB-like, endocytic adaptor protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307580	Fbxo4	F-box protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307580	Fbxo4	F-box protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307580	Fbxo4	F-box protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1316856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307580	Fbxo4	F-box protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307580	Fbxo4	F-box protein 4	gene	DOID:3275	thymoma		ISO	RGD:1316856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307580	Fbxo4	F-box protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316856	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307580	Fbxo4	F-box protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307580	Fbxo4	F-box protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1316858	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1316858	D	RGD:7240710	20170726	OMIM			
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1316858	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1	PMID:10564830|PMID:12118255|PMID:12524598|PMID:12567324|PMID:12677556|PMID:12837689|PMID:12872256|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16582908|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18327255|PMID:18669544|PMID:18766993|PMID:19797195|PMID:19858128|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23559858|PMID:23565731|PMID:23571587|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25525159|PMID:25741868|PMID:25780760|PMID:25982971|PMID:25988237|PMID:26022370|PMID:26261414|PMID:26325558|PMID:26467025|PMID:26518167|PMID:26566502|PMID:26872967|PMID:27032803|PMID:27260402|PMID:27434533|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27884173|PMID:27894351|PMID:28041643|PMID:28143435|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29191167|PMID:29264490|PMID:29588463|PMID:29974258|PMID:30076350|PMID:30142598|PMID:30259503|PMID:30337596|PMID:30484961|PMID:30609409|PMID:30614526|PMID:30718709|PMID:31028937|PMID:31130284|PMID:31196119|PMID:31213501|PMID:31328266|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31534736|PMID:31589614|PMID:31836858|PMID:3196484|PMID:31964843|PMID:31980526|PMID:31997113|PMID:32037395|PMID:32165824|PMID:32349990|PMID:32451492|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32949114|PMID:33015405|PMID:33169370|PMID:33369054|PMID:33532864|PMID:33594065|PMID:33749171|PMID:33851411|PMID:33910932|PMID:34327195|PMID:34426522|PMID:34448047|PMID:34526762|PMID:34716235|PMID:34732400|PMID:34758253|PMID:34792930|PMID:34906171|PMID:34906470|PMID:34940782|PMID:35055178|PMID:35112343|PMID:35119454|PMID:35314707|PMID:35456422|PMID:35481623|PMID:35692835|PMID:35695966|PMID:35835773|PMID:35886001|PMID:36460718|PMID:36474027|PMID:36819107|PMID:36909829|PMID:39618083|PMID:9343467|PMID:9536098
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1316858	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome type 1	PMID:12118255|PMID:12677556|PMID:12872256|PMID:15770229|PMID:16199547|PMID:17576681|PMID:17980398|PMID:19797195|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20498079|PMID:20981092|PMID:21052717|PMID:21344540|PMID:21520335|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22995991|PMID:23559858|PMID:24033266|PMID:24611592|PMID:25525159|PMID:25741868|PMID:26261414|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27659767|PMID:28143435|PMID:28492532|PMID:28559085|PMID:29588463|PMID:31196119|PMID:31456290|PMID:31534736|PMID:31964843|PMID:32037395|PMID:32531858|PMID:32949114|PMID:33046855|PMID:33749171|PMID:34426522|PMID:34526762|PMID:34758253|PMID:34906171|PMID:34906470|PMID:34940782|PMID:35055178|PMID:35481623|PMID:35886001|PMID:36460718|PMID:37734845|PMID:38927698|PMID:39462066|PMID:39533427|PMID:9536098
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISS	RGD:1316859	D	RGD:13592920	20230718	MouseDO		OMIM:209900	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1316858	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26261414|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28143435|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:33532864|PMID:34526762|PMID:34906470|PMID:36474027|PMID:36909829|PMID:9536098
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1316858	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:25982971|PMID:26022370|PMID:26261414|PMID:26325558|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29264490|PMID:29588463|PMID:29974258|PMID:30142598|PMID:30337596|PMID:30484961|PMID:30609409|PMID:30614526|PMID:30718709|PMID:31028937|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32483926|PMID:32531858|PMID:32581362|PMID:33015405|PMID:33169370|PMID:33369054|PMID:33532864|PMID:33749171|PMID:33851411|PMID:33910932|PMID:34327195|PMID:34426522|PMID:34448047|PMID:34526762|PMID:34716235|PMID:34732400|PMID:34758253|PMID:34792930|PMID:34906171|PMID:34906470|PMID:34940782|PMID:35112343|PMID:35119454|PMID:35456422|PMID:35695966|PMID:35835773|PMID:35886001|PMID:36460718|PMID:36474027|PMID:36819107|PMID:36909829|PMID:9536098
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1316858	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:12118255|PMID:15770229|PMID:17576681|PMID:20120035|PMID:20177705|PMID:21344540|PMID:21520335|PMID:22773737|PMID:25741868|PMID:26261414|PMID:27032803|PMID:28041643|PMID:28143435|PMID:28492532|PMID:31456290|PMID:31964843|PMID:32531858|PMID:33749171|PMID:34426522|PMID:34758253|PMID:34906470|PMID:34940782|PMID:35886001|PMID:9536098
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:34906470
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:1115	sarcoma		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:1143	exotropia		ISO	RGD:1316858	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: concomitant exotropia	PMID:25741868|PMID:28492532
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1316858	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:15770229|PMID:17980398|PMID:20981092|PMID:21344540|PMID:22995991|PMID:25741868|PMID:28492532
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1316858	D	RGD:1579969|PMID:12524598	19990101	RGD		DNA:mutations: :multiple (human)	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARL6-related disorder | ClinVar Annotator: match by term: Bardet-Biedl Syndrome | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:16199547|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18327255|PMID:19763152|PMID:19797195|PMID:20177705|PMID:20307669|PMID:20498079|PMID:21052717|PMID:21520335|PMID:22406018|PMID:22581970|PMID:22773737|PMID:22940089|PMID:23143442|PMID:23432027|PMID:23559858|PMID:24611592|PMID:24746959|PMID:25170860|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26082521|PMID:27032803|PMID:27486776|PMID:27894351|PMID:28492532|PMID:29099798|PMID:29588463|PMID:30614526|PMID:31196119|PMID:31589614|PMID:31964843|PMID:31980526|PMID:31997113|PMID:32531858|PMID:33169370|PMID:35835773|PMID:35886001|PMID:9536098
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1316858	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl Syndrome | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:15770229|PMID:16199547|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18327255|PMID:19763152|PMID:19797195|PMID:20177705|PMID:20307669|PMID:20498079|PMID:20981092|PMID:21052717|PMID:21344540|PMID:21520335|PMID:22406018|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22995991|PMID:23143442|PMID:23432027|PMID:23559858|PMID:24611592|PMID:24746959|PMID:25170860|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26082521|PMID:27032803|PMID:27486776|PMID:27894351|PMID:28492532|PMID:29099798|PMID:30614526|PMID:31196119|PMID:31589614|PMID:31964843|PMID:31980526|PMID:31997113|PMID:32531858|PMID:33169370|PMID:35835773|PMID:35886001|PMID:9536098
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:1316859	D	RGD:243065268|PMID:33722691	20230417	RGD			
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316858	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:630	genetic disease		ISO	RGD:1316858	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1316858	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:12118255|PMID:21520335|PMID:25741868|PMID:27032803|PMID:28492532|PMID:31196119|PMID:32451492|PMID:3646071
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:9970	obesity		ISO	RGD:1316859	D	RGD:243065268|PMID:33722691	20230417	RGD			
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:9970	obesity		ISS	RGD:1316859	D	RGD:13592920	20180518	MouseDO		OMIM:601665	
1307581	Bbs1	Bardet-Biedl syndrome 1	gene	DOID:9970	obesity	no_association	ISO	RGD:1316858	D	RGD:1601314|PMID:14993910	20070416	RGD		DNA:mutation: :p.M390R (human)	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:10534	stomach cancer		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:1115	sarcoma		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:1909	melanoma		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:3275	thymoma		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:6039	uveal melanoma		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:630	genetic disease		ISO	RGD:1351633	D	RGD:8554872	20160510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25356970
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307582	Rpusd3	RNA pseudouridine synthase D3	gene	DOID:9256	colorectal cancer		ISO	RGD:1351633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307583	Uqcc5	ubiquinol-cytochrome c reductase complex assembly factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307585	Efhd2	EF-hand domain family, member D2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307585	Efhd2	EF-hand domain family, member D2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307585	Efhd2	EF-hand domain family, member D2	gene	DOID:9006302	Binge Drinking		ISO	RGD:1316863	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:28397836
1307585	Efhd2	EF-hand domain family, member D2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307586	Rpl7a	ribosomal protein L7A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307586	Rpl7a	ribosomal protein L7A	gene	DOID:10534	stomach cancer		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307586	Rpl7a	ribosomal protein L7A	gene	DOID:1324	lung cancer		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307586	Rpl7a	ribosomal protein L7A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307586	Rpl7a	ribosomal protein L7A	gene	DOID:4362	cervical cancer		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307586	Rpl7a	ribosomal protein L7A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307587	Zfp41	zinc finger protein 41	gene	DOID:10534	stomach cancer		ISO	RGD:1606662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307587	Zfp41	zinc finger protein 41	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307587	Zfp41	zinc finger protein 41	gene	DOID:1115	sarcoma		ISO	RGD:1606662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307587	Zfp41	zinc finger protein 41	gene	DOID:5041	esophageal cancer		ISO	RGD:1606662	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307587	Zfp41	zinc finger protein 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050847	sleep apnea		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050871	fibroma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fibroma	PMID:25741868|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:1316868	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:20945554|PMID:27651234
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:15805155|PMID:16826528|PMID:19264732|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1316868	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1316868	D	RGD:7240710	20190320	OMIM			
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1316868	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EHMT1-related condition | ClinVar Annotator: match by term: KLEEFSTRA SYNDROME 1 | ClinVar Annotator: match by term: Kleefstra Syndrome 1 | ClinVar Annotator: match by term: Kleefstra syndrome 1	PMID:15805155|PMID:16199547|PMID:16826528|PMID:17576681|PMID:19264732|PMID:20945554|PMID:21538692|PMID:22670141|PMID:22726846|PMID:24088041|PMID:25640679|PMID:25741868|PMID:2663354|PMID:26633542|PMID:26633545|PMID:26808425|PMID:28057753|PMID:28492532|PMID:28512736|PMID:29416845|PMID:29758562|PMID:30525188|PMID:30542205|PMID:31322791|PMID:32335911|PMID:33057194|PMID:33288889|PMID:33834462|PMID:35597848|PMID:35982159|PMID:36413997|PMID:37954151|PMID:38290825|PMID:39013458|PMID:9536098
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060352	Kleefstra syndrome 1		ISS	RGD:1316869	D	RGD:13592920	20230718	MouseDO		OMIM:610253	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0080074	neural tube defect		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neural tube defect	PMID:28492532
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0080597	Kleefstra syndrome		ISO	RGD:1316868	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0080597	Kleefstra syndrome		ISO	RGD:1316868	D	RGD:9589137|PMID:21538692	20141110	RGD			
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0080597	Kleefstra syndrome		ISO	RGD:1316868	D	RGD:9589144|PMID:21910222	20141110	RGD			
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0080597	Kleefstra syndrome		ISO	RGD:1316869	D	RGD:9589139|PMID:19896504	20141110	RGD			
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:15805155|PMID:16826528|PMID:19264732|PMID:20945554|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:28492532|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:10907	microcephaly		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:15805155|PMID:16826528|PMID:19264732|PMID:20945554|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:10965	spastic diplegia		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:11714	gestational diabetes		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:28492532
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:11782	astigmatism		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:15805155|PMID:16826528|PMID:19264732|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:11830	myopia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16826528|PMID:19264732|PMID:25741868|PMID:28492532|PMID:28554332|PMID:35904121
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:11836	clubfoot		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:12337	varicocele		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Varicocele	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:19264732|PMID:20945554|PMID:25741868|PMID:28492532|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:28492532
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:28492532
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1757	facial hemiatrophy		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hemiatrophy	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1826	epilepsy		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:28492532
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28492532
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1316868	D	RGD:9590071|PMID:24805087	20141112	RGD		protein:increased expression:esophagus mucosa:	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1316868	D	RGD:9589143|PMID:24649311	20141110	RGD		protein:increased expression:esophagus:	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:4188	echolalia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:5119	ovarian cyst		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cyst	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1316868	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15805155|PMID:16826528|PMID:18264113|PMID:19264732|PMID:20945554|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:28057753|PMID:28492532|PMID:37954151|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:28492532
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:6364	migraine		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:6543	acne		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:25741868|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:848	arthritis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:8893	psoriasis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psoriasis	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9000892	Fetal Distress		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal distress	PMID:28492532
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:15805155|PMID:16826528|PMID:19264732|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9002594	High Hyperopia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperopia, high	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9002916	Hyperphagia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9006637	Schizencephaly		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1316868	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:32277047|PMID:36250449
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9007817	Macroglossia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15805155|PMID:16826528|PMID:19264732|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:28492532|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008268	Enuresis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008385	Vomiting		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:930	orbital disease		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868|PMID:39013458
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9834	hyperopia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9840	esotropia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:28492532
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1316868	D	RGD:11554173	20210601	CTD		CTD Direct Evidence: marker/mechanism	PMID:32889036
1307588	Ehmt1	euchromatic histone lysine methyltransferase 1	gene	DOID:9970	obesity		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
1307589	Thap1	THAP domain containing 1	gene	DOID:0050835	generalized dystonia		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	PMID:25741868
1307589	Thap1	THAP domain containing 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasmodic torticollis	PMID:25741868
1307589	Thap1	THAP domain containing 1	gene	DOID:0050844	spasmodic dystonia		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Laryngeal dystonia	PMID:25741868
1307589	Thap1	THAP domain containing 1	gene	DOID:0070736	multiple mitochondrial dysfunctions syndrome 9B		ISO	RGD:1316870	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 9b	PMID:25741868|PMID:26467025|PMID:28492532
1307589	Thap1	THAP domain containing 1	gene	DOID:0090039	torsion dystonia 6		ISO	RGD:1316870	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19182804
1307589	Thap1	THAP domain containing 1	gene	DOID:0090039	torsion dystonia 6		ISO	RGD:1316870	D	RGD:7240710	20130221	OMIM			
1307589	Thap1	THAP domain containing 1	gene	DOID:0090039	torsion dystonia 6		ISO	RGD:1316870	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSTONIA 6, TORSION | ClinVar Annotator: match by term: Dystonia 6, torsion | ClinVar Annotator: match by term: Torsion dystonia 6	PMID:17576681|PMID:18073205|PMID:19182804|PMID:19345147|PMID:19763152|PMID:19908320|PMID:20083799|PMID:20144952|PMID:20211909|PMID:20307669|PMID:20669277|PMID:20687193|PMID:20865765|PMID:20925076|PMID:21495072|PMID:21520283|PMID:21752024|PMID:21782490|PMID:21847143|PMID:22377579|PMID:22406018|PMID:22844099|PMID:22903657|PMID:23036512|PMID:23180184|PMID:24500857|PMID:24976531|PMID:25088175|PMID:25741868|PMID:26467025|PMID:26486352|PMID:26506956|PMID:26610312|PMID:26944167|PMID:27123488|PMID:28492532|PMID:28697333|PMID:29520331|PMID:31153764|PMID:31817799|PMID:32112337|PMID:33175450|PMID:33369735|PMID:33949708|PMID:34686877|PMID:35531120|PMID:36854336|PMID:38094642|PMID:9536098
1307589	Thap1	THAP domain containing 1	gene	DOID:0090039	torsion dystonia 6		ISS	RGD:1316871	D	RGD:13592920	20230718	MouseDO		OMIM:602629	
1307589	Thap1	THAP domain containing 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1307589	Thap1	THAP domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307589	Thap1	THAP domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316870	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307589	Thap1	THAP domain containing 1	gene	DOID:543	dystonia		ISO	RGD:1316870	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222958
1307589	Thap1	THAP domain containing 1	gene	DOID:543	dystonia		ISO	RGD:1316870	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:32581362
1307589	Thap1	THAP domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:26467025|PMID:28492532
1307589	Thap1	THAP domain containing 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
1307589	Thap1	THAP domain containing 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1307590	Flii	FLII, actin remodeling protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:1115	sarcoma		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:1909	melanoma		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:3070	high grade glioma		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:3275	thymoma		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:4362	cervical cancer		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316872	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:9001408	Dilated Cardiomyopathy 2J		ISO	RGD:1316872	D	RGD:7240710	20231206	OMIM			
1307590	Flii	FLII, actin remodeling protein	gene	DOID:9001408	Dilated Cardiomyopathy 2J		ISO	RGD:1316872	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 2J | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2j	PMID:10862770|PMID:20661277|PMID:25741868|PMID:32870709
1307590	Flii	FLII, actin remodeling protein	gene	DOID:9002189	High Myopia		ISO	RGD:1316872	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307590	Flii	FLII, actin remodeling protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1316872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307593	Mrpl43	mitochondrial ribosomal protein L43	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307593	Mrpl43	mitochondrial ribosomal protein L43	gene	DOID:1324	lung cancer		ISO	RGD:1316878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307593	Mrpl43	mitochondrial ribosomal protein L43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307594	Slc46a3	solute carrier family 46, member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1606669	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307594	Slc46a3	solute carrier family 46, member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1606669	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307594	Slc46a3	solute carrier family 46, member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307594	Slc46a3	solute carrier family 46, member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307594	Slc46a3	solute carrier family 46, member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307594	Slc46a3	solute carrier family 46, member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606669	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307594	Slc46a3	solute carrier family 46, member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307596	Fbxo8	F-box protein 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307596	Fbxo8	F-box protein 8	gene	DOID:10534	stomach cancer		ISO	RGD:1316882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307596	Fbxo8	F-box protein 8	gene	DOID:3070	high grade glioma		ISO	RGD:1316882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307596	Fbxo8	F-box protein 8	gene	DOID:3275	thymoma		ISO	RGD:1316882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307596	Fbxo8	F-box protein 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307596	Fbxo8	F-box protein 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307596	Fbxo8	F-box protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307596	Fbxo8	F-box protein 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307596	Fbxo8	F-box protein 8	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307596	Fbxo8	F-box protein 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:1909	melanoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:3275	thymoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316884	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1316884	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307597	Arel1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307598	Yju2b	YJU2 splicing factor homolog B	gene	DOID:10534	stomach cancer		ISO	RGD:1604584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307598	Yju2b	YJU2 splicing factor homolog B	gene	DOID:1324	lung cancer		ISO	RGD:1604584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307598	Yju2b	YJU2 splicing factor homolog B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307598	Yju2b	YJU2 splicing factor homolog B	gene	DOID:3275	thymoma		ISO	RGD:1604584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307598	Yju2b	YJU2 splicing factor homolog B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307598	Yju2b	YJU2 splicing factor homolog B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604584	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307598	Yju2b	YJU2 splicing factor homolog B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307598	Yju2b	YJU2 splicing factor homolog B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307598	Yju2b	YJU2 splicing factor homolog B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307598	Yju2b	YJU2 splicing factor homolog B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307599	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:0050925	small intestine carcinoid neuroendocrine tumor		IEP		D	RGD:617256274|PMID:29154080	20250723	RGD		mRNA:increased expression:small intestine tumor	
1307599	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307599	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1604617	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1307599	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:1380	endometrial cancer		ISS	RGD:1332254	D	RGD:13592920	20180518	MouseDO		OMIM:608089	
1307599	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307599	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:289	endometriosis		ISO	RGD:1604617	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1307599	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604617	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307599	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:8398	osteoarthritis		ISS	RGD:1332254	D	RGD:13592920	20180518	MouseDO		OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401	
1307599	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:9002165	Diabetic Nephropathies		IEP		D	RGD:9685546|PMID:10749885	20150119	RGD		associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney:	
1307599	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1332254	D	RGD:9685562|PMID:19204184	20150120	RGD		protein:increased expression:heart:	
1307599	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:9003936	Cardiomegaly	treatment	IDA		D	RGD:9685562|PMID:19204184	20150120	RGD			
1307599	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:9006618	Liver Metastasis		IEP		D	RGD:617256274|PMID:29154080	20250723	RGD		mRNA:increased expression:liver tumor	
1307599	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1604617	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28688920
1307599	Errfi1	ERBB receptor feedback inhibitor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307600	Cdnf	cerebral dopamine neurotrophic factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316888	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307600	Cdnf	cerebral dopamine neurotrophic factor	gene	DOID:1115	sarcoma		ISO	RGD:1316888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307600	Cdnf	cerebral dopamine neurotrophic factor	gene	DOID:4362	cervical cancer		ISO	RGD:1316888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307600	Cdnf	cerebral dopamine neurotrophic factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1316888	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307600	Cdnf	cerebral dopamine neurotrophic factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307601	Ifitm1	interferon induced transmembrane protein 1	gene	DOID:3500	gallbladder adenocarcinoma	disease_progression	ISO	RGD:1316889	D	RGD:150429712|PMID:29043607	20210921	RGD			
1307601	Ifitm1	interferon induced transmembrane protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307601	Ifitm1	interferon induced transmembrane protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316889	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307601	Ifitm1	interferon induced transmembrane protein 1	gene	DOID:5627	adenosquamous gallbladder carcinoma	disease_progression	ISO	RGD:1316889	D	RGD:150429712|PMID:29043607	20210921	RGD			
1307601	Ifitm1	interferon induced transmembrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307601	Ifitm1	interferon induced transmembrane protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316889	D	RGD:11554173	20210928	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307603	Gstp3	glutathione S-transferase pi 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316892	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307605	Grap2	GRB2-related adaptor protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307605	Grap2	GRB2-related adaptor protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1316895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307605	Grap2	GRB2-related adaptor protein 2	gene	DOID:1883	hepatitis C	severity	ISO	RGD:1316895	D	RGD:126790487|PMID:15063762	20210423	RGD		DNA:SNP:intron: (human)	
1307605	Grap2	GRB2-related adaptor protein 2	gene	DOID:3275	thymoma		ISO	RGD:1316895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307605	Grap2	GRB2-related adaptor protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307605	Grap2	GRB2-related adaptor protein 2	gene	DOID:9007278	Anaphylaxis	ameliorates	ISO	RGD:1552736	D	RGD:126790488|PMID:18664516	20210423	RGD			
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:0080600	COVID-19		ISO	RGD:1316898	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:1059	intellectual disability		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:11162	respiratory failure		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1316898	D	RGD:1599424|PMID:1720305	20070201	RGD			
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:1826	epilepsy		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:1891	optic nerve disease		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:1969	cerebral palsy		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:2234	focal epilepsy		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:2394	ovarian cancer		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:3021	acute kidney failure		ISO	RGD:1316898	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22005293
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:3323	Sandhoff disease		ISO	RGD:1316898	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:3323	Sandhoff disease		ISO	RGD:1316898	D	RGD:1599422|PMID:2147027	20070201	RGD			
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:3323	Sandhoff disease		ISO	RGD:1316898	D	RGD:7240710	20130221	OMIM			
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:3323	Sandhoff disease		ISO	RGD:1316898	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: GM2 gangliosidosis, type 2 | ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease	PMID:10724|PMID:10982028|PMID:11329289|PMID:11897243|PMID:12027830|PMID:12166653|PMID:12706724|PMID:1386607|PMID:14724290|PMID:1487253|PMID:1531140|PMID:1532910|PMID:16169011|PMID:16199547|PMID:17015493|PMID:1720305|PMID:1723749|PMID:17237499|PMID:17576681|PMID:18758829|PMID:19595619|PMID:1975561|PMID:19763152|PMID:19823769|PMID:19898952|PMID:20307669|PMID:20798201|PMID:20926324|PMID:21150067|PMID:2139865|PMID:2147027|PMID:2147031|PMID:21483992|PMID:21567908|PMID:2170400|PMID:22191674|PMID:22406018|PMID:22789865|PMID:22848519|PMID:23010210|PMID:23046579|PMID:23113155|PMID:23127958|PMID:23158871|PMID:23418865|PMID:23759947|PMID:24022928|PMID:24033266|PMID:24082139|PMID:24263030|PMID:24356898|PMID:24461908|PMID:24503148|PMID:24613245|PMID:24915922|PMID:2522450|PMID:25525159|PMID:25640679|PMID:25736553|PMID:25741868|PMID:25741905|PMID:26582265|PMID:27021291|PMID:27142713|PMID:27435318|PMID:27629047|PMID:27682710|PMID:27697305|PMID:28281504|PMID:28476546|PMID:28492532|PMID:28895707|PMID:2921040|PMID:29448188|PMID:29451896|PMID:2948136|PMID:2973515|PMID:30065954|PMID:30075786|PMID:3014997|PMID:30548430|PMID:31319225|PMID:31367523|PMID:3156493|PMID:31589614|PMID:31852446|PMID:31974414|PMID:31995250|PMID:32036093|PMID:32860008|PMID:33176815|PMID:33407268|PMID:33673364|PMID:33742171|PMID:33824075|PMID:34210542|PMID:34226107|PMID:34856081|PMID:35186388|PMID:35711818|PMID:36407556|PMID:36628841|PMID:571983|PMID:7550345|PMID:7557963|PMID:7633435|PMID:8045559|PMID:8076944|PMID:8106452|PMID:8162015|PMID:8357844|PMID:8593535|PMID:868875|PMID:8950198|PMID:9401004|PMID:9475608|PMID:9536098|PMID:9562328|PMID:9694901
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:3323	Sandhoff disease		ISO	RGD:1316898	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HEXB-related condition | ClinVar Annotator: match by term: SANDHOFF DISEASE | ClinVar Annotator: match by term: SANDHOFF DISEASE, ADULT | ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease	PMID:11329289|PMID:11897243|PMID:12027830|PMID:12166653|PMID:12706724|PMID:1386607|PMID:1390948|PMID:14724290|PMID:1531140|PMID:1532910|PMID:16169011|PMID:16199547|PMID:17015493|PMID:1720305|PMID:1723749|PMID:17237499|PMID:17576681|PMID:18758829|PMID:18930675|PMID:19595619|PMID:19763152|PMID:19823769|PMID:19898952|PMID:20307669|PMID:20798201|PMID:20926324|PMID:21150067|PMID:2147031|PMID:21483992|PMID:21567908|PMID:2170400|PMID:22406018|PMID:22789865|PMID:22848519|PMID:23010210|PMID:23046579|PMID:23113155|PMID:23127958|PMID:23158871|PMID:23418865|PMID:23759947|PMID:23886397|PMID:24022928|PMID:24082139|PMID:24263030|PMID:24356898|PMID:24461908|PMID:24503148|PMID:24613245|PMID:24915922|PMID:2522450|PMID:25525159|PMID:25640679|PMID:25736553|PMID:25741868|PMID:26582265|PMID:26769462|PMID:27021291|PMID:27142713|PMID:27391121|PMID:27435318|PMID:27682710|PMID:27697305|PMID:28281504|PMID:28476546|PMID:28492532|PMID:28895707|PMID:2921040|PMID:29448188|PMID:29451896|PMID:30065954|PMID:30075786|PMID:30548430|PMID:30712135|PMID:31319225|PMID:31367523|PMID:31428437|PMID:31515793|PMID:31589614|PMID:31847883|PMID:31852446|PMID:31919734|PMID:31995250|PMID:32036093|PMID:32860008|PMID:33176815|PMID:33407268|PMID:33547378|PMID:33673364|PMID:33742171|PMID:33824075|PMID:34210542|PMID:34226107|PMID:34554397|PMID:34856081|PMID:35186388|PMID:35568357|PMID:35711818|PMID:36194207|PMID:36407556|PMID:36628841|PMID:36709536|PMID:36964972|PMID:37327298|PMID:37344817|PMID:37597066|PMID:38730490|PMID:7550345|PMID:7557963|PMID:7633435|PMID:8076944|PMID:8106452|PMID:8162015|PMID:8357844|PMID:8593535|PMID:8950198|PMID:9401004|PMID:9475608|PMID:9536098|PMID:9562328|PMID:9694901
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:3323	Sandhoff disease		ISS	RGD:1316899	D	RGD:13592920	20230718	MouseDO		OMIM:268800	
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:5723	optic atrophy		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1316898	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19595619|PMID:28492532
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:9000052	Breech Presentation		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breech presentation	PMID:25741868|PMID:28492532
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:9003926	Sandhoff Disease, Infantile Type		ISO	RGD:1316898	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SANDHOFF DISEASE, INFANTILE | ClinVar Annotator: match by term: SANDHOFF DISEASE, INFANTILE TYPE	PMID:18758829|PMID:28492532|PMID:7550345|PMID:8045559
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316898	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:18758829|PMID:25741868|PMID:28492532|PMID:7550345
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:9007105	Hyperemesis Gravidarum		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperemesis gravidarum	PMID:25741868|PMID:28492532
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:9007736	Vertigo		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316898	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:18758829|PMID:25741868|PMID:28492532|PMID:7550345
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307607	Hexb	hexosaminidase subunit beta	gene	DOID:936	brain disease		ISO	RGD:1316898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532
1307610	Raver2	ribonucleoprotein, PTB-binding 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307610	Raver2	ribonucleoprotein, PTB-binding 2	gene	DOID:1909	melanoma		ISO	RGD:1602482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307610	Raver2	ribonucleoprotein, PTB-binding 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307610	Raver2	ribonucleoprotein, PTB-binding 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307610	Raver2	ribonucleoprotein, PTB-binding 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307611	Dmc1	DNA meiotic recombinase 1	gene	DOID:0050457	Sertoli cell-only syndrome		ISS	RGD:1316905	D	RGD:13592920	20180518	MouseDO		OMIM:305700 | OMIM:400042	
1307611	Dmc1	DNA meiotic recombinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316904	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307611	Dmc1	DNA meiotic recombinase 1	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1316904	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	
1307611	Dmc1	DNA meiotic recombinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307611	Dmc1	DNA meiotic recombinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307611	Dmc1	DNA meiotic recombinase 1	gene	DOID:14227	azoospermia		ISO	RGD:1316904	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Azoospermia	
1307611	Dmc1	DNA meiotic recombinase 1	gene	DOID:3275	thymoma		ISO	RGD:1316904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307611	Dmc1	DNA meiotic recombinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316904	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307611	Dmc1	DNA meiotic recombinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307611	Dmc1	DNA meiotic recombinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307611	Dmc1	DNA meiotic recombinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316904	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307611	Dmc1	DNA meiotic recombinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307611	Dmc1	DNA meiotic recombinase 1	gene	DOID:9003436	CRYPTOZOOSPERMIA		ISO	RGD:1316904	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cryptozoospermia	
1307611	Dmc1	DNA meiotic recombinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316904	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0050453	lissencephaly		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316906	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080377	peroxisomal biogenesis disorder		ISO	RGD:1316906	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX5 defect	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080476	peroxisome biogenesis disorder 1A		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger)	
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080477	peroxisome biogenesis disorder 2A		ISO	RGD:1316906	D	RGD:7240710	20170802	OMIM			
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080477	peroxisome biogenesis disorder 2A		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2a (zellweger)	PMID:18712838|PMID:21031596|PMID:25741868|PMID:26344566|PMID:28492532|PMID:7719337
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080479	peroxisome biogenesis disorder 4A		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger)	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080622	peroxisome biogenesis disorder 2B		ISO	RGD:1316906	D	RGD:7240710	20170802	OMIM			
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080622	peroxisome biogenesis disorder 2B		ISO	RGD:1316906	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 2B | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B	PMID:10462504|PMID:16199547|PMID:17532062|PMID:17576681|PMID:18712838|PMID:20681997|PMID:21031596|PMID:25741868|PMID:26220973|PMID:26344566|PMID:27290639|PMID:28492532|PMID:30561787|PMID:33057194|PMID:33389129|PMID:34645488|PMID:9536098
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0080918	polymicrogyria		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0110854	rhizomelic chondrodysplasia punctata type 5		ISO	RGD:1316906	D	RGD:7240710	20170802	OMIM			
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0110854	rhizomelic chondrodysplasia punctata type 5		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5	PMID:25741868|PMID:26220973|PMID:28492532|PMID:33389129
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:0111083	Fanconi anemia complementation group D2		ISO	RGD:1316906	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group D2	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:10534	stomach cancer		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:1059	intellectual disability		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:26220973
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:10907	microcephaly		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:26220973|PMID:28492532
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:10908	hydrocephalus		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:1115	sarcoma		ISO	RGD:1316906	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:11383	cryptorchidism		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:1826	epilepsy		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26220973
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:2580	rhizomelic chondrodysplasia punctata		ISO	RGD:1316906	D	RGD:8554872	20170808	ClinVar		ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata	PMID:26220973
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:4362	cervical cancer		ISO	RGD:1316906	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:5723	optic atrophy		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:630	genetic disease		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:870	neuropathy		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:26220973
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:9003063	Cerebrohepatorenal Syndrome, Variant Types		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebrohepatorenal syndrome, variant types	PMID:25741868|PMID:26344566|PMID:28492532
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:9004327	Colpocephaly		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316906	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:9008189	Pyelectasis		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316906	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:905	Zellweger syndrome		ISO	RGD:1316906	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum	PMID:18712838|PMID:21031596|PMID:25741868|PMID:26344566|PMID:28492532
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:905	Zellweger syndrome		ISO	RGD:1316906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebrohepatorenal syndrome	PMID:25741868|PMID:26344566|PMID:28492532
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:905	Zellweger syndrome		ISO	RGD:1316907	D	RGD:13207457|PMID:9288097	20200419	RGD			
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:905	Zellweger syndrome		ISO	RGD:1316907	D	RGD:25440483|PMID:11583975	20200419	RGD			
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:905	Zellweger syndrome		ISO	RGD:1316907	D	RGD:25440485|PMID:28866057	20200419	RGD			
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:906	peroxisomal disease		ISO	RGD:1316907	D	RGD:13207458|PMID:15732085	20170809	RGD			
1307612	Pex5	peroxisomal biogenesis factor 5	gene	DOID:9452	steatotic liver disease		ISO	RGD:1316907	D	RGD:25440484|PMID:21756965	20200419	RGD			
1307613	Stard7	StAR-related lipid transfer domain containing 7	gene	DOID:0111692	familial adult myoclonic epilepsy 2		ISO	RGD:1316908	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307613	Stard7	StAR-related lipid transfer domain containing 7	gene	DOID:0111692	familial adult myoclonic epilepsy 2		ISO	RGD:1316908	D	RGD:7240710	20191127	OMIM			
1307613	Stard7	StAR-related lipid transfer domain containing 7	gene	DOID:0111692	familial adult myoclonic epilepsy 2		ISO	RGD:1316908	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2	PMID:25741868|PMID:31664034
1307613	Stard7	StAR-related lipid transfer domain containing 7	gene	DOID:10534	stomach cancer		ISO	RGD:1316908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307613	Stard7	StAR-related lipid transfer domain containing 7	gene	DOID:1324	lung cancer		ISO	RGD:1316908	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307613	Stard7	StAR-related lipid transfer domain containing 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307613	Stard7	StAR-related lipid transfer domain containing 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1316908	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307613	Stard7	StAR-related lipid transfer domain containing 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307613	Stard7	StAR-related lipid transfer domain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307614	Ube2m	ubiquitin-conjugating enzyme E2M	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307614	Ube2m	ubiquitin-conjugating enzyme E2M	gene	DOID:3070	high grade glioma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307614	Ube2m	ubiquitin-conjugating enzyme E2M	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307614	Ube2m	ubiquitin-conjugating enzyme E2M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307614	Ube2m	ubiquitin-conjugating enzyme E2M	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307614	Ube2m	ubiquitin-conjugating enzyme E2M	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307614	Ube2m	ubiquitin-conjugating enzyme E2M	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1316912	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:10534	stomach cancer		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:1059	intellectual disability		ISO	RGD:1316912	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:1324	lung cancer		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:1909	melanoma		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:3070	high grade glioma		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:4362	cervical cancer		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1316912	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307615	Rabl6	RAB, member RAS oncogene family-like 6	gene	DOID:9849	Meniere's disease		ISO	RGD:1316912	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Meniere disease	
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:27633801
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C		ISO	RGD:1316914	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C		ISO	RGD:1316914	D	RGD:7240710	20160713	OMIM			
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C		ISO	RGD:1316914	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C | ClinVar Annotator: match by term: YARS1-related disorder	PMID:14606043|PMID:16199547|PMID:16429158|PMID:17576681|PMID:19561293|PMID:21384131|PMID:24627108|PMID:25741868|PMID:26138142|PMID:26257172|PMID:26467025|PMID:26975778|PMID:27027447|PMID:28492532|PMID:29302074|PMID:30340945|PMID:3034524|PMID:30373780|PMID:31130284|PMID:31832804|PMID:34352414|PMID:34536092|PMID:34813128|PMID:36307205|PMID:36631979|PMID:37976411|PMID:39504961|PMID:9536098
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C		ISS	RGD:1316915	D	RGD:13592920	20230718	MouseDO		OMIM:608323	
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1316914	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Metachromatic leukodystrophy	PMID:25741868
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:10907	microcephaly		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:11252	microcytic anemia		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:11759	hypochromic anemia		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypochromic anemia	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:13317	hyperinsulinemic hypoglycemia		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia	PMID:27633801
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:2355	anemia		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:26467025|PMID:27633801|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	PMID:27633801
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21384131|PMID:25741868|PMID:26467025|PMID:28492532
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9000988	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2		ISO	RGD:1316914	D	RGD:7240710	20210728	OMIM			
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9000988	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 | ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28726809|PMID:29302074|PMID:3034524|PMID:31130284|PMID:34352414|PMID:34536092|PMID:37976411
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9006461	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease		ISO	RGD:1316914	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	PMID:25741868
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9007874	Liver Failure		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:27633801
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26467025|PMID:27633801|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34352414|PMID:34536092|PMID:37976411
1307616	Yars1	tyrosyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307617	Adsl	adenylosuccinate lyase	gene	DOID:0050762	adenylosuccinase lyase deficiency		ISO	RGD:1316916	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10888601|PMID:10958654|PMID:12833398
1307617	Adsl	adenylosuccinate lyase	gene	DOID:0050762	adenylosuccinase lyase deficiency		ISO	RGD:1316916	D	RGD:7240710	20130221	OMIM			
1307617	Adsl	adenylosuccinate lyase	gene	DOID:0050762	adenylosuccinase lyase deficiency		ISO	RGD:1316916	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADENYLOSUCCINASE DEFICIENCY | ClinVar Annotator: match by term: ADSL DEFICIENCY | ClinVar Annotator: match by term: ADSL-related condition | ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency | ClinVar Annotator: match by term: adenylosuccinate lyase deficiency	PMID:10090474|PMID:10888601|PMID:10958654|PMID:12016589|PMID:12070256|PMID:12368987|PMID:12833398|PMID:1405483|PMID:15571235|PMID:16199547|PMID:16839792|PMID:17188615|PMID:17576681|PMID:18524658|PMID:19405474|PMID:20049533|PMID:20127976|PMID:20175147|PMID:20177786|PMID:20884265|PMID:20933180|PMID:21210713|PMID:22180458|PMID:22812634|PMID:23055421|PMID:23504561|PMID:23714113|PMID:23937257|PMID:24033266|PMID:24781210|PMID:25112391|PMID:25741868|PMID:25910213|PMID:26467025|PMID:27504266|PMID:28487569|PMID:28492532|PMID:28559277|PMID:28768552|PMID:29302074|PMID:29314763|PMID:29655203|PMID:30185235|PMID:30609409|PMID:31069529|PMID:31164858|PMID:31440721|PMID:31467849|PMID:31623504|PMID:3234432|PMID:32405461|PMID:32681428|PMID:33648541|PMID:34791078|PMID:36271826|PMID:37838930|PMID:37842880|PMID:7334371|PMID:9165520|PMID:9536098
1307617	Adsl	adenylosuccinate lyase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316916	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1307617	Adsl	adenylosuccinate lyase	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1316916	D	RGD:1598760|PMID:3690833	20061218	RGD		protein:increased activity:tumor (human)	
1307617	Adsl	adenylosuccinate lyase	gene	DOID:1059	intellectual disability		ISO	RGD:1316916	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1307617	Adsl	adenylosuccinate lyase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307617	Adsl	adenylosuccinate lyase	gene	DOID:1115	sarcoma		ISO	RGD:1316916	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307617	Adsl	adenylosuccinate lyase	gene	DOID:12849	autistic disorder		ISO	RGD:1316916	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15471876
1307617	Adsl	adenylosuccinate lyase	gene	DOID:1324	lung cancer		ISO	RGD:1316916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307617	Adsl	adenylosuccinate lyase	gene	DOID:1612	breast cancer		IEP		D	RGD:1598766|PMID:2937404	20110720	RGD		protein:increased activity:tumor (rat)	
1307617	Adsl	adenylosuccinate lyase	gene	DOID:1612	breast cancer	severity	ISO	RGD:1316916	D	RGD:1598760|PMID:3690833	20061218	RGD		protein:increased activity:tumor (human)	
1307617	Adsl	adenylosuccinate lyase	gene	DOID:1826	epilepsy		ISO	RGD:1316916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:12368987|PMID:16839792|PMID:17188615|PMID:19405474|PMID:20127976|PMID:25741868|PMID:28492532
1307617	Adsl	adenylosuccinate lyase	gene	DOID:1909	melanoma		ISO	RGD:1316916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307617	Adsl	adenylosuccinate lyase	gene	DOID:4362	cervical cancer		ISO	RGD:1316916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307617	Adsl	adenylosuccinate lyase	gene	DOID:5041	esophageal cancer		ISO	RGD:1316916	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307617	Adsl	adenylosuccinate lyase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307617	Adsl	adenylosuccinate lyase	gene	DOID:630	genetic disease		ISO	RGD:1316916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16839792|PMID:24781210|PMID:25741868|PMID:28492532
1307617	Adsl	adenylosuccinate lyase	gene	DOID:9001586	Experimental Liver Neoplasms		IEP		D	RGD:1598766|PMID:2937404	20061219	RGD		protein:increased activity:liver (rat)	
1307617	Adsl	adenylosuccinate lyase	gene	DOID:9004866	Ataxia		ISO	RGD:1316916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ataxia	PMID:28492532
1307617	Adsl	adenylosuccinate lyase	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1316916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized myoclonic seizures	PMID:25741868|PMID:28492532|PMID:31623504|PMID:33648541
1307617	Adsl	adenylosuccinate lyase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:12368987|PMID:16839792|PMID:17188615|PMID:19405474|PMID:20127976|PMID:25741868|PMID:28492532
1307617	Adsl	adenylosuccinate lyase	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:1598762|PMID:3360219	20061218	RGD		protein:increased activity:heart (rat)	
1307617	Adsl	adenylosuccinate lyase	gene	DOID:9007573	Flatfoot		ISO	RGD:1316916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:10090474|PMID:10958654|PMID:25741868|PMID:28492532
1307617	Adsl	adenylosuccinate lyase	gene	DOID:9007722	Myoclonus		ISO	RGD:1316916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:12368987|PMID:16839792|PMID:17188615|PMID:19405474|PMID:20127976|PMID:25741868|PMID:28492532
1307617	Adsl	adenylosuccinate lyase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10090474|PMID:10958654|PMID:25741868|PMID:28492532
1307617	Adsl	adenylosuccinate lyase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:11162	respiratory failure		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:2841	asthma		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:480	movement disease		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1601858	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9007736	Vertigo		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9008465	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE		ISO	RGD:1601858	D	RGD:7240710	20200826	OMIM			
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9008465	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE		ISO	RGD:1601858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CSGALNACT1-related condition | ClinVar Annotator: match by term: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE | ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age	PMID:25741868|PMID:27599773|PMID:28492532|PMID:31705726
1307618	Csgalnact1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307620	Catsper2	cation channel, sperm associated 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307620	Catsper2	cation channel, sperm associated 2	gene	DOID:0070173	spermatogenic failure 7		ISO	RGD:1316921	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1307620	Catsper2	cation channel, sperm associated 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307620	Catsper2	cation channel, sperm associated 2	gene	DOID:12336	male infertility		ISO	RGD:1316921	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Male infertility	
1307620	Catsper2	cation channel, sperm associated 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307620	Catsper2	cation channel, sperm associated 2	gene	DOID:3275	thymoma		ISO	RGD:1316921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307620	Catsper2	cation channel, sperm associated 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307620	Catsper2	cation channel, sperm associated 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307620	Catsper2	cation channel, sperm associated 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316921	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307620	Catsper2	cation channel, sperm associated 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307620	Catsper2	cation channel, sperm associated 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307620	Catsper2	cation channel, sperm associated 2	gene	DOID:9002477	Deafness-Infertility Syndrome		ISO	RGD:1316921	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1307620	Catsper2	cation channel, sperm associated 2	gene	DOID:9002477	Deafness-Infertility Syndrome		ISO	RGD:1316921	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Deafness-infertility syndrome	PMID:19344877|PMID:24033266
1307620	Catsper2	cation channel, sperm associated 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307621	Dorip1	dopamine receptor interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307622	Atp8b3	ATPase phospholipid transporting 8B3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307622	Atp8b3	ATPase phospholipid transporting 8B3	gene	DOID:10534	stomach cancer		ISO	RGD:1316924	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307622	Atp8b3	ATPase phospholipid transporting 8B3	gene	DOID:1115	sarcoma		ISO	RGD:1316924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307622	Atp8b3	ATPase phospholipid transporting 8B3	gene	DOID:4362	cervical cancer		ISO	RGD:1316924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307622	Atp8b3	ATPase phospholipid transporting 8B3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307622	Atp8b3	ATPase phospholipid transporting 8B3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307622	Atp8b3	ATPase phospholipid transporting 8B3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307622	Atp8b3	ATPase phospholipid transporting 8B3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307623	Rhoh	ras homolog family member H	gene	DOID:0060019	coronin-1A deficiency		ISO	RGD:1316925	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis	PMID:25741868|PMID:28492532
1307623	Rhoh	ras homolog family member H	gene	DOID:0061094	immunodeficiency 129		ISO	RGD:1316925	D	RGD:7240710	20241211	OMIM			
1307623	Rhoh	ras homolog family member H	gene	DOID:0061094	immunodeficiency 129		ISO	RGD:1316925	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 | ClinVar Annotator: match by term: IMMUNODEFICIENCY 129 | ClinVar Annotator: match by term: RHOH-related condition	PMID:25741868|PMID:28492532
1307623	Rhoh	ras homolog family member H	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1307623	Rhoh	ras homolog family member H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307623	Rhoh	ras homolog family member H	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307623	Rhoh	ras homolog family member H	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307624	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1316927	D	RGD:152177496|PMID:27354594	20220513	RGD		DNA:SNP:3'utr: (rs3803098) A>G (human)	
1307624	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:0080918	polymicrogyria		ISO	RGD:1316927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	
1307624	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1316927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307624	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:10907	microcephaly		ISO	RGD:1316927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1307624	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307624	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:1115	sarcoma		ISO	RGD:1316927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307624	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:1324	lung cancer		ISO	RGD:1316927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307624	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:1826	epilepsy		ISO	RGD:1316927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	
1307624	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307624	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1316927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
1307624	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1307624	Borcs5	BLOC-1 related complex subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307626	Drosha	drosha ribonuclease III	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307626	Drosha	drosha ribonuclease III	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307626	Drosha	drosha ribonuclease III	gene	DOID:0060058	lymphoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307626	Drosha	drosha ribonuclease III	gene	DOID:10485	esophageal atresia		ISO	RGD:1605687	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
1307626	Drosha	drosha ribonuclease III	gene	DOID:10534	stomach cancer		ISO	RGD:1605687	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307626	Drosha	drosha ribonuclease III	gene	DOID:12336	male infertility		ISO	RGD:1605687	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22381205
1307626	Drosha	drosha ribonuclease III	gene	DOID:1324	lung cancer		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307626	Drosha	drosha ribonuclease III	gene	DOID:1612	breast cancer		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1307626	Drosha	drosha ribonuclease III	gene	DOID:1664	pineoblastoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pineoblastoma	PMID:27993330|PMID:30030436|PMID:31768671|PMID:31802236|PMID:31820118|PMID:32124011|PMID:35972537|PMID:37452938
1307626	Drosha	drosha ribonuclease III	gene	DOID:1826	epilepsy		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
1307626	Drosha	drosha ribonuclease III	gene	DOID:1909	melanoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307626	Drosha	drosha ribonuclease III	gene	DOID:2154	nephroblastoma		ISO	RGD:1605687	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
1307626	Drosha	drosha ribonuclease III	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307626	Drosha	drosha ribonuclease III	gene	DOID:3275	thymoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307626	Drosha	drosha ribonuclease III	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307626	Drosha	drosha ribonuclease III	gene	DOID:4362	cervical cancer		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307626	Drosha	drosha ribonuclease III	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307626	Drosha	drosha ribonuclease III	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605687	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307626	Drosha	drosha ribonuclease III	gene	DOID:5041	esophageal cancer		ISO	RGD:1605687	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307626	Drosha	drosha ribonuclease III	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307626	Drosha	drosha ribonuclease III	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307626	Drosha	drosha ribonuclease III	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307626	Drosha	drosha ribonuclease III	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307626	Drosha	drosha ribonuclease III	gene	DOID:687	hepatoblastoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:25741868
1307626	Drosha	drosha ribonuclease III	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307626	Drosha	drosha ribonuclease III	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307626	Drosha	drosha ribonuclease III	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307626	Drosha	drosha ribonuclease III	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307626	Drosha	drosha ribonuclease III	gene	DOID:9256	colorectal cancer		ISO	RGD:1605687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307627	Tmed9	transmembrane p24 trafficking protein 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307627	Tmed9	transmembrane p24 trafficking protein 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307627	Tmed9	transmembrane p24 trafficking protein 9	gene	DOID:1324	lung cancer		ISO	RGD:1344143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307627	Tmed9	transmembrane p24 trafficking protein 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307627	Tmed9	transmembrane p24 trafficking protein 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307627	Tmed9	transmembrane p24 trafficking protein 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307627	Tmed9	transmembrane p24 trafficking protein 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307627	Tmed9	transmembrane p24 trafficking protein 9	gene	DOID:9006737	Monoclonal B-Cell Lymphocytosis		ISO	RGD:1344143	D	RGD:8554872	20160322	ClinVar		ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis	
1307627	Tmed9	transmembrane p24 trafficking protein 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1316934	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:0081443	Stolerman neurodevelopmental syndrome		ISO	RGD:1316934	D	RGD:7240710	20190821	OMIM			
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:0081443	Stolerman neurodevelopmental syndrome		ISO	RGD:1316934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KDM6B-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | ClinVar Annotator: match by term: STOLERMAN NEURODEVELOPMENTAL SYNDROME	PMID:25741868|PMID:28492532|PMID:31124279|PMID:37196654
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:10534	stomach cancer		ISO	RGD:1316934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:1059	intellectual disability		ISO	RGD:1316934	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:1059	intellectual disability		ISO	RGD:1316934	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:1115	sarcoma		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:12849	autistic disorder		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:1909	melanoma		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:2234	focal epilepsy		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: localization related epilepsy	PMID:25741868
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:3459	breast carcinoma		ISO	RGD:1316934	D	RGD:9587818|PMID:23152497	20141021	RGD		mRNA:increased expression:breast (human)	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:4362	cervical cancer		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1316934	D	RGD:9587837|PMID:23057811	20141021	RGD		mRNA, protein:increased expression:kidney (human)	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:630	genetic disease		ISO	RGD:1316934	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29220567|PMID:36896643
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:9587821|PMID:22578249	20141021	RGD		mRNA:increased expression:spinal cord (rat)	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316934	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:9007573	Flatfoot		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:9008582	Developmental Disease		ISO	RGD:1316934	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1307629	Kdm6b	lysine demethylase 6B	gene	DOID:962	neurofibroma		ISO	RGD:1316935	D	RGD:9587842|PMID:23748155	20141021	RGD		mRNA, protein:increased expression:sciatic nerve (mouse)	
1307630	Celf4	CUGBP, Elav-like family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1316936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307630	Celf4	CUGBP, Elav-like family member 4	gene	DOID:3275	thymoma		ISO	RGD:1316936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307630	Celf4	CUGBP, Elav-like family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307630	Celf4	CUGBP, Elav-like family member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307630	Celf4	CUGBP, Elav-like family member 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316936	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1307631	Spc24	SPC24 component of NDC80 kinetochore complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307631	Spc24	SPC24 component of NDC80 kinetochore complex	gene	DOID:10534	stomach cancer		ISO	RGD:1604521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307631	Spc24	SPC24 component of NDC80 kinetochore complex	gene	DOID:3275	thymoma		ISO	RGD:1604521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307631	Spc24	SPC24 component of NDC80 kinetochore complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307632	Isoc1	isochorismatase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307632	Isoc1	isochorismatase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1347473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307632	Isoc1	isochorismatase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307632	Isoc1	isochorismatase domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307632	Isoc1	isochorismatase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307632	Isoc1	isochorismatase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307632	Isoc1	isochorismatase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307633	Mphosph10	M-phase phosphoprotein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307633	Mphosph10	M-phase phosphoprotein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307633	Mphosph10	M-phase phosphoprotein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307633	Mphosph10	M-phase phosphoprotein 10	gene	DOID:1324	lung cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307633	Mphosph10	M-phase phosphoprotein 10	gene	DOID:2394	ovarian cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307633	Mphosph10	M-phase phosphoprotein 10	gene	DOID:4362	cervical cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307633	Mphosph10	M-phase phosphoprotein 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307633	Mphosph10	M-phase phosphoprotein 10	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307633	Mphosph10	M-phase phosphoprotein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307633	Mphosph10	M-phase phosphoprotein 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1316940	D	RGD:9587477|PMID:22882088	20141015	RGD		protein:increased expression:mouth mucosa:	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:10283	prostate cancer		ISO	RGD:1316940	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:10283	prostate cancer		ISO	RGD:1316940	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1316940	D	RGD:9587461|PMID:19309489	20141015	RGD		protein:increased expression:prostate:	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1316940	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADHD	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:1115	sarcoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:3068	glioblastoma		ISO	RGD:1316940	D	RGD:9587472|PMID:24039914	20141015	RGD		protein:increased expression:brain:	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:1316940	D	RGD:9587472|PMID:24039914	20141015	RGD		protein:increased expression:brain:	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:403	mouth disease		ISO	RGD:1316940	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17682004
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:5041	esophageal cancer		ISO	RGD:1316940	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316940	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:8923	skin melanoma	severity	ISO	RGD:1316940	D	RGD:9587476|PMID:20178651	20141015	RGD		protein:increased expression:skin:	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:9003216	Salivary Gland Neoplasms	disease_progression	ISO	RGD:1316940	D	RGD:9587467|PMID:21109952	20141015	RGD		protein:increased expression:salivary gland:	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:1316940	D	RGD:9587477|PMID:22882088	20141015	RGD		protein:increased expression::	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307634	Chaf1b	chromatin assembly factor 1 subunit B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307635	Kank4	KN motif and ankyrin repeat domains 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1307635	Kank4	KN motif and ankyrin repeat domains 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307635	Kank4	KN motif and ankyrin repeat domains 4	gene	DOID:1115	sarcoma		ISO	RGD:1603552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307635	Kank4	KN motif and ankyrin repeat domains 4	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1603552	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:28492532|PMID:29127259
1307635	Kank4	KN motif and ankyrin repeat domains 4	gene	DOID:1324	lung cancer		ISO	RGD:1603552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307635	Kank4	KN motif and ankyrin repeat domains 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1603552	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307635	Kank4	KN motif and ankyrin repeat domains 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307635	Kank4	KN motif and ankyrin repeat domains 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307635	Kank4	KN motif and ankyrin repeat domains 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307635	Kank4	KN motif and ankyrin repeat domains 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307635	Kank4	KN motif and ankyrin repeat domains 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1307636	Cnpy4	canopy FGF signaling regulator 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606674	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307638	Zbtb35	zinc finger and BTB domain containing 35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307638	Zbtb35	zinc finger and BTB domain containing 35	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307638	Zbtb35	zinc finger and BTB domain containing 35	gene	DOID:5041	esophageal cancer		ISO	RGD:1353025	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307638	Zbtb35	zinc finger and BTB domain containing 35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307639	Trarg1	trafficking regulator of GLUT4 (SLC2A4) 1	gene	DOID:1324	lung cancer		ISO	RGD:1316946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307640	Arsj	arylsulfatase family, member J	gene	DOID:10534	stomach cancer		ISO	RGD:1606235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307644	Wnt8b	Wnt family member 8B	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1316953	D	RGD:12801434|PMID:20972907	20170330	RGD			
1307644	Wnt8b	Wnt family member 8B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:1115	sarcoma		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:1324	lung cancer		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:1909	melanoma		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:3070	high grade glioma		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:4362	cervical cancer		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1307645	Rapgef6	Rap guanine nucleotide exchange factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307646	Lpin1	lipin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1307646	Lpin1	lipin 1	gene	DOID:1115	sarcoma		ISO	RGD:1316957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307646	Lpin1	lipin 1	gene	DOID:11981	morbid obesity		ISO	RGD:1316957	D	RGD:1641822|PMID:17563064	20070823	RGD			
1307646	Lpin1	lipin 1	gene	DOID:1324	lung cancer		ISO	RGD:1316957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307646	Lpin1	lipin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307646	Lpin1	lipin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316957	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307646	Lpin1	lipin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307646	Lpin1	lipin 1	gene	DOID:630	genetic disease		ISO	RGD:1316957	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307646	Lpin1	lipin 1	gene	DOID:783	end stage renal disease		IEP		D	RGD:1641826|PMID:14718385	20070823	RGD		mRNA:increased expression:skeletal muscle	
1307646	Lpin1	lipin 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1316957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: chronic kidney disease	PMID:25741868|PMID:28492532
1307646	Lpin1	lipin 1	gene	DOID:811	lipodystrophy		ISS	RGD:1316958	D	RGD:13592920	20180518	MouseDO		OMIM:608709	
1307646	Lpin1	lipin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307646	Lpin1	lipin 1	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:1641826|PMID:14718385	20070823	RGD		mRNA:increased expression:skeletal muscle	
1307646	Lpin1	lipin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307646	Lpin1	lipin 1	gene	DOID:9007346	Cachexia		IEP		D	RGD:1641826|PMID:14718385	20070823	RGD		associated with Carcinoma, Hepatocellular;mRNA:increased expression:skeletal muscle	
1307646	Lpin1	lipin 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1316957	D	RGD:1641822|PMID:17563064	20070823	RGD			
1307646	Lpin1	lipin 1	gene	DOID:9007777	Acute Recurrent Myoglobinuria, Autosomal Recessive		ISO	RGD:1316957	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307646	Lpin1	lipin 1	gene	DOID:9007777	Acute Recurrent Myoglobinuria, Autosomal Recessive		ISO	RGD:1316957	D	RGD:7240710	20130221	OMIM			
1307646	Lpin1	lipin 1	gene	DOID:9007777	Acute Recurrent Myoglobinuria, Autosomal Recessive		ISO	RGD:1316957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LPIN1-related condition | ClinVar Annotator: match by term: MYOGLOBINURIA, RECURRENT, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive | ClinVar Annotator: match by term: Myoglobinuria, recurrent, autosomal recessive	PMID:16199547|PMID:17576681|PMID:18817903|PMID:20583302|PMID:22481384|PMID:23928362|PMID:24033266|PMID:25741868|PMID:25967228|PMID:26111941|PMID:26909335|PMID:28492532|PMID:28986436|PMID:31723421|PMID:32410653|PMID:35242575|PMID:9536098
1307646	Lpin1	lipin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1316959	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316959	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:1558	angioedema		ISO	RGD:1316959	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Angioedema	PMID:28327206
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:3275	thymoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316959	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307647	Sytl2	synaptotagmin-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307648	Dpcd	deleted in primary ciliary dyskinesia	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307648	Dpcd	deleted in primary ciliary dyskinesia	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307648	Dpcd	deleted in primary ciliary dyskinesia	gene	DOID:10908	hydrocephalus		ISS	RGD:1316961	D	RGD:13592920	20180518	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
1307648	Dpcd	deleted in primary ciliary dyskinesia	gene	DOID:5041	esophageal cancer		ISO	RGD:1601768	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307648	Dpcd	deleted in primary ciliary dyskinesia	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307648	Dpcd	deleted in primary ciliary dyskinesia	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307648	Dpcd	deleted in primary ciliary dyskinesia	gene	DOID:9562	primary ciliary dyskinesia		ISS	RGD:1316961	D	RGD:13592920	20180518	MouseDO			
1307649	Wdr6	WD repeat domain 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307649	Wdr6	WD repeat domain 6	gene	DOID:10534	stomach cancer		ISO	RGD:1316962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307649	Wdr6	WD repeat domain 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307649	Wdr6	WD repeat domain 6	gene	DOID:4362	cervical cancer		ISO	RGD:1316962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307649	Wdr6	WD repeat domain 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307649	Wdr6	WD repeat domain 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307649	Wdr6	WD repeat domain 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307649	Wdr6	WD repeat domain 6	gene	DOID:9007661	Dwarfism		ISO	RGD:1316962	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1307650	Mrps17	mitochondrial ribosomal protein S17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307650	Mrps17	mitochondrial ribosomal protein S17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307650	Mrps17	mitochondrial ribosomal protein S17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307651	Cblc	Cbl proto-oncogene C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307651	Cblc	Cbl proto-oncogene C	gene	DOID:10534	stomach cancer		ISO	RGD:1316966	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307651	Cblc	Cbl proto-oncogene C	gene	DOID:1324	lung cancer		ISO	RGD:1316966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307651	Cblc	Cbl proto-oncogene C	gene	DOID:1909	melanoma		ISO	RGD:1316966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307651	Cblc	Cbl proto-oncogene C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307651	Cblc	Cbl proto-oncogene C	gene	DOID:4362	cervical cancer		ISO	RGD:1316966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307651	Cblc	Cbl proto-oncogene C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307651	Cblc	Cbl proto-oncogene C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307651	Cblc	Cbl proto-oncogene C	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307651	Cblc	Cbl proto-oncogene C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1307651	Cblc	Cbl proto-oncogene C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307653	Ap1m1	adaptor related protein complex 1 subunit mu 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307653	Ap1m1	adaptor related protein complex 1 subunit mu 1	gene	DOID:0060058	lymphoma		ISO	RGD:1316969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307653	Ap1m1	adaptor related protein complex 1 subunit mu 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307653	Ap1m1	adaptor related protein complex 1 subunit mu 1	gene	DOID:1115	sarcoma		ISO	RGD:1316969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307653	Ap1m1	adaptor related protein complex 1 subunit mu 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307653	Ap1m1	adaptor related protein complex 1 subunit mu 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307653	Ap1m1	adaptor related protein complex 1 subunit mu 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307654	Rit2	Ras-like without CAAX 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307654	Rit2	Ras-like without CAAX 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307654	Rit2	Ras-like without CAAX 2	gene	DOID:1115	sarcoma		ISO	RGD:1316971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307654	Rit2	Ras-like without CAAX 2	gene	DOID:1909	melanoma		ISO	RGD:1316971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307654	Rit2	Ras-like without CAAX 2	gene	DOID:3275	thymoma		ISO	RGD:1316971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307654	Rit2	Ras-like without CAAX 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307654	Rit2	Ras-like without CAAX 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307654	Rit2	Ras-like without CAAX 2	gene	DOID:9408	acute myocardial infarction	ameliorates	IEP		D	RGD:267358468|PMID:32068187	20230418	RGD			
1307655	Abcb8	ATP binding cassette subfamily B member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307655	Abcb8	ATP binding cassette subfamily B member 8	gene	DOID:0060058	lymphoma		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307655	Abcb8	ATP binding cassette subfamily B member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307655	Abcb8	ATP binding cassette subfamily B member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307655	Abcb8	ATP binding cassette subfamily B member 8	gene	DOID:1324	lung cancer		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307655	Abcb8	ATP binding cassette subfamily B member 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307655	Abcb8	ATP binding cassette subfamily B member 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307655	Abcb8	ATP binding cassette subfamily B member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307655	Abcb8	ATP binding cassette subfamily B member 8	gene	DOID:9002801	Recurrence		ISO	RGD:1316973	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
1307655	Abcb8	ATP binding cassette subfamily B member 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307655	Abcb8	ATP binding cassette subfamily B member 8	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1316973	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
1307655	Abcb8	ATP binding cassette subfamily B member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307655	Abcb8	ATP binding cassette subfamily B member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307657	Arl6ip4	ARF like GTPase 6 interacting protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307657	Arl6ip4	ARF like GTPase 6 interacting protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307657	Arl6ip4	ARF like GTPase 6 interacting protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1316976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307657	Arl6ip4	ARF like GTPase 6 interacting protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1316976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307657	Arl6ip4	ARF like GTPase 6 interacting protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307658	Rbm12b	RNA binding motif protein 12B	gene	DOID:10534	stomach cancer		ISO	RGD:1602033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307658	Rbm12b	RNA binding motif protein 12B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307658	Rbm12b	RNA binding motif protein 12B	gene	DOID:1115	sarcoma		ISO	RGD:1602033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307658	Rbm12b	RNA binding motif protein 12B	gene	DOID:2661	myoepithelioma		ISO	RGD:1602033	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1307658	Rbm12b	RNA binding motif protein 12B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28873162
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1316979	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868|PMID:28492532|PMID:32091409|PMID:33471991|PMID:34326862|PMID:38350919
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:0111097	Fanconi anemia complementation group J		ISO	RGD:1316979	D	RGD:11251781|PMID:26968956	20160622	RGD		DNA:nonsense mutation:cds:p.R798* (human)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:0111097	Fanconi anemia complementation group J		ISO	RGD:1316979	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:0111097	Fanconi anemia complementation group J		ISO	RGD:1316979	D	RGD:7240710	20260812	OMIM			
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:0111097	Fanconi anemia complementation group J		ISO	RGD:1316979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group J | ClinVar Annotator: match by term: Fanconi anemia, complementation group J	PMID:11301010|PMID:12872252|PMID:14576433|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16199547|PMID:16280053|PMID:16973432|PMID:17033622|PMID:17576681|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19099189|PMID:19197335|PMID:19584272|PMID:20068231|PMID:20159562|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22237106|PMID:22264603|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23935105|PMID:24033266|PMID:24448499|PMID:24573678|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25401301|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25981591|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26637282|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26790966|PMID:26921362|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27153395|PMID:27165003|PMID:27433846|PMID:27443514|PMID:27471560|PMID:27498913|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28678401|PMID:28717660|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28991257|PMID:29338072|PMID:29356034|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29507082|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29961768|PMID:30093976|PMID:30130155|PMID:30256826|PMID:30262796|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30414346|PMID:30441849|PMID:30680046|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31341520|PMID:31366178|PMID:31512090|PMID:31558676|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31871109|PMID:31911633|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32255556|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32659497|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33028645|PMID:33120919|PMID:33309985|PMID:33471991|PMID:33619228|PMID:33646313|PMID:33805315|PMID:33910496|PMID:34204722|PMID:34326862|PMID:34521114|PMID:34570441|PMID:34585738|PMID:34646395|PMID:35039564|PMID:35053526|PMID:35101336|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35739269|PMID:35739278|PMID:35884425|PMID:35957908|PMID:36169650|PMID:36243179|PMID:36338706|PMID:36446039|PMID:36451132|PMID:36630951|PMID:36894310|PMID:36922933|PMID:36978154|PMID:37791908|PMID:37885353|PMID:38136308|PMID:38350919|PMID:38748947|PMID:39400928|PMID:39582020|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:16280053|PMID:17033622|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26921362|PMID:26976419|PMID:27153395|PMID:27997549|PMID:28492532|PMID:28873162|PMID:33471991
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:16116423|PMID:17033622|PMID:21964575|PMID:25741868|PMID:26296696|PMID:26467025|PMID:26681312|PMID:28492532|PMID:28495237|PMID:28888541|PMID:29338689|PMID:29922827|PMID:30982232|PMID:31742824|PMID:32566746|PMID:33471991|PMID:34308104|PMID:35171259|PMID:35273153|PMID:36988593
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:16116423|PMID:17033622|PMID:21964575|PMID:25741868|PMID:26296696|PMID:26467025|PMID:26681312|PMID:26845104|PMID:26921362|PMID:28492532|PMID:28495237|PMID:29922827|PMID:32566746|PMID:33313162|PMID:33471991|PMID:33619228|PMID:33842585|PMID:35534704|PMID:36243179|PMID:36627197|PMID:36988593|PMID:38355628
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:36988593
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1316979	D	RGD:11252150|PMID:25391381	20160627	RGD		associated with Down Syndrome;protein:increased ubiquitination:frontal cortex (human)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:11830	myopia		ISO	RGD:1316979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16280053|PMID:17033622|PMID:25186627|PMID:25452441|PMID:25741868|PMID:26467025|PMID:26921362|PMID:26976419|PMID:27153395|PMID:27997549|PMID:28492532|PMID:28767289|PMID:28873162|PMID:32659497|PMID:33471991
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:12176	goiter		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:16280053|PMID:17033622|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26921362|PMID:26976419|PMID:27153395|PMID:27997549|PMID:28492532|PMID:31822495|PMID:33471991
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:1324	lung cancer		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:13636	Fanconi anemia		ISO	RGD:1316979	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20639400
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:13636	Fanconi anemia		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:25741868
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:14250	Down syndrome		ISO	RGD:1316979	D	RGD:11252150|PMID:25391381	20160627	RGD		protein:increased ubiquitination:frontal cortex (human)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:17576681|PMID:24728327|PMID:25741868|PMID:28492532|PMID:29625052|PMID:35101336|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1316979	D	RGD:11252148|PMID:15613547	20160627	RGD		human gene in a mouse model	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1316979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:16280053|PMID:17033622|PMID:25741868|PMID:26467025|PMID:26921362|PMID:26976419|PMID:27153395|PMID:27997549|PMID:28492532|PMID:33471991
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:1612	breast cancer		ISO	RGD:1316979	D	RGD:11251779|PMID:18483852	20160622	RGD		DNA:missense mutation:cds:p.Q944E (human)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:1612	breast cancer		ISO	RGD:1316979	D	RGD:7240710	20260812	OMIM			
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:1612	breast cancer		ISO	RGD:1316979	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20173781|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29922827|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30230034|PMID:30254378|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32068069|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33115781|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:3375802|PMID:33980423|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34326862|PMID:34585738|PMID:34646395|PMID:35118230|PMID:35205822|PMID:35264596|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35986085|PMID:36035419|PMID:36243179|PMID:36315513|PMID:36623239|PMID:36896836|PMID:36988593|PMID:37517399|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:1612	breast cancer		ISO	RGD:1316979	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20173781|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29922827|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30230034|PMID:30254378|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32068069|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33047316|PMID:33115781|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:3375802|PMID:33980423|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34326862|PMID:34482403|PMID:34585738|PMID:34646395|PMID:35118230|PMID:35205822|PMID:35264596|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35980532|PMID:35986085|PMID:36035419|PMID:36169650|PMID:36243179|PMID:36315513|PMID:36623239|PMID:36896836|PMID:36988593|PMID:37216690|PMID:37517399|PMID:38060977|PMID:38136308|PMID:38734904|PMID:38781545|PMID:39400928|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:1612	breast cancer		ISO	RGD:1316979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, EARLY-ONSET | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:11301010|PMID:12565990|PMID:12872252|PMID:14983014|PMID:16116423|PMID:16280053|PMID:17033622|PMID:17145708|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18628483|PMID:19150983|PMID:19197335|PMID:19763819|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20173781|PMID:21127055|PMID:21964575|PMID:22692731|PMID:22792074|PMID:23613520|PMID:24573678|PMID:25330149|PMID:25646469|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26534844|PMID:26556299|PMID:26689913|PMID:26845104|PMID:26921362|PMID:27107905|PMID:27193682|PMID:27427815|PMID:27498913|PMID:28135145|PMID:28492532|PMID:28767289|PMID:28783718|PMID:28888541|PMID:29368626|PMID:29922827|PMID:29961768|PMID:30093976|PMID:30130155|PMID:30262796|PMID:30309722|PMID:30680046|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31300551|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31742824|PMID:31745173|PMID:32426482|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33471991|PMID:33619228|PMID:34482403|PMID:34646395|PMID:35053526|PMID:35118230|PMID:35534704|PMID:35734982|PMID:35739269|PMID:35884425|PMID:35986085|PMID:36243179|PMID:36988593|PMID:37436117|PMID:37517399|PMID:38136308|PMID:39003386|PMID:39400928
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:1612	breast cancer	onset	ISO	RGD:1316979	D	RGD:1600525|PMID:11301010	20070312	RGD		DNA:missense mutations:cds:p.P47A, p.M299I (human)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1316979	D	RGD:11252100|PMID:19536649	20160624	RGD		DNA:snp:3' utr:C>A (rs7220740) (human)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1316979	D	RGD:11252107|PMID:17033622	20160624	RGD		DNA:mutations:multiple (human)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1316979	D	RGD:11252109|PMID:23357080	20160624	RGD		DNA:snps, haplotype:introns:c.1935+977T>C, c.1473+3729A>G, c.1340+109G>A (rs11871753, rs16945628, rs2191248) (human)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:1909	melanoma		ISO	RGD:1316979	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:26315354|PMID:28492532|PMID:30322717
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:16280053|PMID:17033622|PMID:25741868|PMID:26467025|PMID:26921362|PMID:26976419|PMID:27153395|PMID:27997549|PMID:28492532|PMID:33471991
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1316979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: familial ovarian cancer | ClinVar Annotator: match by term: ovarian cancer	PMID:12872252|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16280053|PMID:16973432|PMID:17033622|PMID:17576681|PMID:18414782|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19197335|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21279724|PMID:21345144|PMID:21934575|PMID:21964575|PMID:22006311|PMID:22264603|PMID:22792074|PMID:23555315|PMID:23935105|PMID:24033266|PMID:24240112|PMID:24376576|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25807282|PMID:25980754|PMID:25981591|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26786923|PMID:26790966|PMID:26822949|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27433846|PMID:27471560|PMID:27498913|PMID:27978560|PMID:27997549|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28452373|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29961768|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30612635|PMID:30651582|PMID:30680046|PMID:30728895|PMID:30809968|PMID:30833958|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31341520|PMID:31366178|PMID:31512090|PMID:31558676|PMID:31589614|PMID:31742824|PMID:31786208|PMID:31794323|PMID:31822495|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32255556|PMID:32283892|PMID:32359370|PMID:32427313|PMID:32522261|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33224012|PMID:33471991|PMID:33619228|PMID:33646313|PMID:3375802|PMID:33758026|PMID:33910496|PMID:34026625|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34570441|PMID:34585738|PMID:34646395|PMID:34887416|PMID:34994648|PMID:35053526|PMID:35089076|PMID:35101336|PMID:35171259|PMID:35186721|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35626031|PMID:35739269|PMID:35884425|PMID:35957908|PMID:36169650|PMID:36243179|PMID:36315097|PMID:36338706|PMID:36446039|PMID:36451132|PMID:36765687|PMID:36922933|PMID:36988593|PMID:37885353|PMID:38136308|PMID:38308423|PMID:38350919|PMID:38874686|PMID:38912178|PMID:39150540|PMID:39400928|PMID:39440754|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:289	endometriosis		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Endometriosis	PMID:22237106|PMID:26534844|PMID:26580448|PMID:28492532
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:3459	breast carcinoma		ISO	RGD:1316979	D	RGD:11251773|PMID:18345034	20160622	RGD		mRNA:increased expression:breast (human)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:3459	breast carcinoma		ISO	RGD:1316979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:16116423|PMID:16199547|PMID:16280053|PMID:17033622|PMID:21964575|PMID:25330149|PMID:25452441|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26921362|PMID:26976419|PMID:27153395|PMID:27433846|PMID:27997549|PMID:28492532|PMID:28767289|PMID:28888541|PMID:29368626|PMID:29922827|PMID:29961768|PMID:30680046|PMID:31173646|PMID:31512090|PMID:31589614|PMID:32659497|PMID:32885271|PMID:33471991|PMID:35220195
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:3744	cervical squamous cell carcinoma	severity	ISO	RGD:1316979	D	RGD:11252104|PMID:24708616	20160624	RGD		mRNA, protein:increased expression:uterine cervix, nucleus (human)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:1316979	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA	PMID:16116423|PMID:17033622|PMID:21964575|PMID:25330149|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28888541|PMID:29368626|PMID:29961768|PMID:30680046|PMID:31173646|PMID:31512090|PMID:31589614|PMID:32885271|PMID:33471991
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316979	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316979	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20173781|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30612635|PMID:30651582|PMID:30680046|PMID:30728895|PMID:30792206|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31794323|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33008098|PMID:33028645|PMID:33115781|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33649982|PMID:3375802|PMID:33804961|PMID:33840814|PMID:33910496|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34503154|PMID:34570441|PMID:34585473|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34887416|PMID:34897210|PMID:35022142|PMID:35039564|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35205822|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35957908|PMID:35986085|PMID:36011273|PMID:36035419|PMID:36243179|PMID:36451132|PMID:36630951|PMID:36672847|PMID:36896836|PMID:36988593|PMID:38298632
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316979	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20173781|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27854218|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30612635|PMID:30651582|PMID:30680046|PMID:30728895|PMID:30792206|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31794323|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33008098|PMID:33028645|PMID:33115781|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33649982|PMID:3375802|PMID:33804961|PMID:33840814|PMID:33910496|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34503154|PMID:34570441|PMID:34585473|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34887416|PMID:34897210|PMID:35022142|PMID:35039564|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35205822|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35957908|PMID:35986085|PMID:36011273|PMID:36035419|PMID:36243179|PMID:36451132|PMID:36630951|PMID:36672847|PMID:36896836|PMID:36988593|PMID:38298632
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316979	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20173781|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25801821|PMID:25807282|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30612635|PMID:30651582|PMID:30680046|PMID:30728895|PMID:30792206|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31794323|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906206|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33008098|PMID:33028645|PMID:33047316|PMID:33115781|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33649982|PMID:3375802|PMID:33804961|PMID:33840814|PMID:33910496|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34503154|PMID:34570441|PMID:34585473|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34887416|PMID:34897210|PMID:35022142|PMID:35039564|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35205822|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35957908|PMID:35986085|PMID:36011273|PMID:36035419|PMID:36243179|PMID:36451132|PMID:36630951|PMID:36672847|PMID:36896836|PMID:36988593|PMID:37216690|PMID:38298632|PMID:38874686
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316979	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20173781|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25801821|PMID:25807282|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30612635|PMID:30651582|PMID:30680046|PMID:30728895|PMID:30792206|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31794323|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906206|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33008098|PMID:33028645|PMID:33047316|PMID:33115781|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33649982|PMID:3375802|PMID:33804961|PMID:33840814|PMID:33910496|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34503154|PMID:34570441|PMID:34585473|PMID:34585738|PMID:34646395|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34887416|PMID:34897210|PMID:35022142|PMID:35039564|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35205822|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35957908|PMID:35986085|PMID:36011273|PMID:36035419|PMID:36169650|PMID:36243179|PMID:36446039|PMID:36451132|PMID:36630951|PMID:36672847|PMID:36896836|PMID:36988593
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316979	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:37216690|PMID:38298632|PMID:38350919|PMID:38874686|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316979	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20173781|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21934575|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25801821|PMID:25807282|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30230034|PMID:30254378|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30728895|PMID:30792206|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31794323|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906206|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33008098|PMID:33028645|PMID:33047316|PMID:33115781|PMID:33120919|PMID:33309985|PMID:33313162|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33649982|PMID:3375802|PMID:33804961|PMID:33840814|PMID:33842585|PMID:33910496|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34503154|PMID:34570441|PMID:34585473|PMID:34585738|PMID:34646395|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34887416|PMID:34897210|PMID:35022142|PMID:35039564|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35205822|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35957908|PMID:35980532|PMID:35986085
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316979	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:36011273|PMID:36035419|PMID:36169650|PMID:36243179|PMID:36446039|PMID:36451132|PMID:36627197|PMID:36630951|PMID:36672847|PMID:36896836|PMID:36988593|PMID:37216690|PMID:38060977|PMID:38298632|PMID:38350919|PMID:38734904|PMID:38781545|PMID:38874686|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316979	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20173781|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21934575|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25801821|PMID:25807282|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30230034|PMID:30254378|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30728895|PMID:30792206|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31745173|PMID:31794323|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906206|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33008098|PMID:33028645|PMID:33047316|PMID:33115781|PMID:33120919|PMID:33309985|PMID:33313162|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33649982|PMID:3375802|PMID:33804961|PMID:33840814|PMID:33842585|PMID:33910496|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34503154|PMID:34570441|PMID:34585473|PMID:34585738|PMID:34646395|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34887416|PMID:34897210|PMID:35022142|PMID:35039564|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35205822|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35957908
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316979	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35980532|PMID:35986085|PMID:36011273|PMID:36035419|PMID:36169650|PMID:36243179|PMID:36446039|PMID:36451132|PMID:36627197|PMID:36630951|PMID:36672847|PMID:36896836|PMID:36988593|PMID:37216690|PMID:38060977|PMID:38136308|PMID:38298632|PMID:38350919|PMID:38734904|PMID:38781545|PMID:38874686|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16116423|PMID:16116424|PMID:16116426|PMID:16199547|PMID:16973432|PMID:17033622|PMID:17576681|PMID:18414782|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19150983|PMID:19197335|PMID:19379763|PMID:19442249|PMID:19519404|PMID:20159562|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24728327|PMID:24895130|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25583461|PMID:25722345|PMID:25741868|PMID:25980754|PMID:25981591|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26790966|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27498913|PMID:27547810|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29338689|PMID:29368626|PMID:29596542|PMID:29641532|PMID:29788478|PMID:29922827|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30262796|PMID:30322717|PMID:30680046|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31341520|PMID:31512090|PMID:31589614|PMID:31742824|PMID:31822495|PMID:32091409|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33028645|PMID:33115781|PMID:33471991|PMID:33619228|PMID:33646313|PMID:34308104|PMID:34326862|PMID:34585738|PMID:34646395|PMID:34887416|PMID:35039564|PMID:35171259|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35626031|PMID:35980532|PMID:36169650|PMID:36243179|PMID:36446039|PMID:36451132|PMID:36896836|PMID:36988593|PMID:38136308|PMID:38350919|PMID:39256447|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316979	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16116423|PMID:16116424|PMID:16116426|PMID:16199547|PMID:16973432|PMID:17033622|PMID:17576681|PMID:18414782|PMID:18628483|PMID:19197335|PMID:20159562|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22792074|PMID:23555315|PMID:23935105|PMID:24033266|PMID:24448499|PMID:24728327|PMID:24895130|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25722345|PMID:25741868|PMID:25980754|PMID:25981591|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26790966|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27498913|PMID:27547810|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29338689|PMID:29368626|PMID:29596542|PMID:29641532|PMID:29788478|PMID:29922827|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30262796|PMID:30322717|PMID:30680046|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31341520|PMID:31512090|PMID:31589614|PMID:31742824|PMID:31822495|PMID:32091409|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33115781|PMID:33471991|PMID:33619228|PMID:33646313|PMID:34308104|PMID:34326862|PMID:34585738|PMID:34646395|PMID:34887416|PMID:35039564|PMID:35171259|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35626031|PMID:35980532|PMID:36169650|PMID:36243179|PMID:36446039|PMID:36451132|PMID:36896836|PMID:36988593|PMID:38136308|PMID:38350919|PMID:39256447|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316979	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16116423|PMID:16116424|PMID:16116426|PMID:16199547|PMID:16973432|PMID:17033622|PMID:17576681|PMID:18414782|PMID:18628483|PMID:19197335|PMID:20159562|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22792074|PMID:23555315|PMID:23935105|PMID:24033266|PMID:24448499|PMID:24728327|PMID:24895130|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25980754|PMID:25981591|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26790966|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27498913|PMID:27547810|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29338689|PMID:29368341|PMID:29368626|PMID:29596542|PMID:29641532|PMID:29788478|PMID:29922827|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30262796|PMID:30322717|PMID:30680046|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31341520|PMID:31512090|PMID:31589614|PMID:31742824|PMID:31745173|PMID:31822495|PMID:32091409|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33115781|PMID:33471991|PMID:33619228|PMID:33646313|PMID:34308104|PMID:34326862|PMID:34585738|PMID:34646395|PMID:34887416|PMID:35039564|PMID:35171259|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35626031|PMID:35734982|PMID:35980532|PMID:36169650|PMID:36243179|PMID:36446039|PMID:36451132|PMID:36896836|PMID:36988593|PMID:38136308|PMID:38350919|PMID:39256447|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11301010|PMID:14983014|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16199547|PMID:16973432|PMID:17033622|PMID:17576681|PMID:18414782|PMID:18628483|PMID:19197335|PMID:20159562|PMID:20173781|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22792074|PMID:23555315|PMID:23935105|PMID:24033266|PMID:24448499|PMID:24728327|PMID:24895130|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25981591|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26790966|PMID:26845104|PMID:26921362|PMID:27107905|PMID:27498913|PMID:28135145|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29368341|PMID:29368626|PMID:29596542|PMID:29788478|PMID:29922827|PMID:29961768|PMID:30093976|PMID:30130155|PMID:30262796|PMID:30306255|PMID:30322717|PMID:30680046|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31512090|PMID:31589614|PMID:31822495|PMID:32091409|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33120919|PMID:33313162|PMID:33471991|PMID:33619228|PMID:33646313|PMID:33840814|PMID:33842585|PMID:33910496|PMID:34326862|PMID:34570441|PMID:34585738|PMID:34646395|PMID:35039564|PMID:35264596|PMID:35441217|PMID:35534704|PMID:35957908|PMID:36169650|PMID:36243179|PMID:36446039|PMID:36627197|PMID:36896836|PMID:36988593|PMID:38136308|PMID:38350919|PMID:38355628|PMID:39096151|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16116423|PMID:16116424|PMID:16116426|PMID:16199547|PMID:16973432|PMID:17033622|PMID:17576681|PMID:18414782|PMID:18628483|PMID:19197335|PMID:20159562|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22792074|PMID:23555315|PMID:23935105|PMID:24033266|PMID:24448499|PMID:24728327|PMID:24895130|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25981591|PMID:26315354|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26689913|PMID:26790966|PMID:26921362|PMID:27107905|PMID:27498913|PMID:28135145|PMID:28452373|PMID:28492532|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29368341|PMID:29368626|PMID:29596542|PMID:29788478|PMID:29922827|PMID:29961768|PMID:30093976|PMID:30130155|PMID:30262796|PMID:30306255|PMID:30322717|PMID:30680046|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31341520|PMID:31512090|PMID:31589614|PMID:31822495|PMID:32091409|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33120919|PMID:33471991|PMID:33619228|PMID:33646313|PMID:33910496|PMID:34326862|PMID:34570441|PMID:34585738|PMID:34646395|PMID:35039564|PMID:35264596|PMID:35534704|PMID:35957908|PMID:36169650|PMID:36243179|PMID:36446039|PMID:36896836|PMID:38136308|PMID:38350919|PMID:39582020|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:18414782|PMID:19197335|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26534844|PMID:26921362|PMID:28135145|PMID:28492532|PMID:30262796|PMID:31159747|PMID:33471991|PMID:34646395|PMID:35534704|PMID:38136308
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:16280053|PMID:17033622|PMID:25741868|PMID:26467025|PMID:26921362|PMID:26976419|PMID:27153395|PMID:27997549|PMID:28492532|PMID:33471991
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1316979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:16280053|PMID:17033622|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26921362|PMID:26976419|PMID:27153395|PMID:27997549|PMID:28492532|PMID:28873162|PMID:33471991
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:16280053|PMID:17033622|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26921362|PMID:26976419|PMID:27153395|PMID:27997549|PMID:28492532|PMID:28873162|PMID:33471991
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1316979	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21964575
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1316979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:16116423|PMID:17033622|PMID:21964575|PMID:23555315|PMID:24728327|PMID:25186627|PMID:25330149|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26689913|PMID:26921362|PMID:28492532|PMID:28888541|PMID:29368626|PMID:29961768|PMID:30680046|PMID:31173646|PMID:31512090|PMID:31589614|PMID:32885271|PMID:33471991|PMID:34326862
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9002762	Ovarian Neoplasms	susceptibility	ISO	RGD:1316979	D	RGD:11251782|PMID:17342202	20160623	RGD		DNA:snps:introns:c.2158-13912A>C, c.508-31C>G (rs2191249,rs4988344) (human)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9004158	diffuse intrinsic pontine glioma		ISO	RGD:1316979	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma	PMID:16116424|PMID:16116426|PMID:16973432|PMID:20639400|PMID:20980836|PMID:23935105|PMID:24448499|PMID:24728327|PMID:24895130|PMID:25741868|PMID:26315354|PMID:26689913|PMID:26790966|PMID:26921362|PMID:27107905|PMID:28492532|PMID:28911102|PMID:30322717|PMID:31265121|PMID:31341520|PMID:31822495|PMID:32427313|PMID:32542039|PMID:33471991|PMID:33619228|PMID:34585738|PMID:36446039
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9004590	Acute Liver Failure		IEP		D	RGD:10755718|PMID:24748974	20160627	RGD		mRNA:increased expression:liver (rat)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29625052|PMID:35101336|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1316979	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20173781|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27854218|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569743|PMID:28640387|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28727877|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29507082|PMID:29515789|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30809968|PMID:30833958|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31794323|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32371905|PMID:32426482
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1316979	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32427313|PMID:32522261|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33008098|PMID:33028645|PMID:33115781|PMID:33120919|PMID:33134171|PMID:33224012|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33619228|PMID:33646313|PMID:33649982|PMID:3375802|PMID:33804961|PMID:33840814|PMID:33842585|PMID:33910496|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34250417|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34482403|PMID:34503154|PMID:34570441|PMID:34585473|PMID:34585738|PMID:34607609|PMID:34646395|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34887416|PMID:34897210|PMID:35022142|PMID:35039564|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35205822|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35441217|PMID:35467778|PMID:35534704|PMID:35626031|PMID:35734982|PMID:35739278|PMID:35957908|PMID:35986085|PMID:36011273|PMID:36035419|PMID:36169650|PMID:36200007|PMID:36243179|PMID:36315097|PMID:36315513|PMID:36338706|PMID:36451132|PMID:36623239|PMID:36627197|PMID:36630951|PMID:36672847|PMID:36833355|PMID:36845387|PMID:36896836|PMID:36988593|PMID:37160887|PMID:37306523|PMID:37791908|PMID:37885353|PMID:38003901|PMID:38298632|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1316979	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20173781|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21934575|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22237106|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25801821|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26589913|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569743|PMID:28640387|PMID:28678401|PMID:28709830|PMID:28727877|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29507082|PMID:29515789|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30263514|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30809968|PMID:30833958|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31794323|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31883735|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1316979	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32295079|PMID:32318955|PMID:32359370|PMID:32371905|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32542039|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32802943|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33008098|PMID:33028645|PMID:33047316|PMID:33115781|PMID:33120919|PMID:33134171|PMID:33224012|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33619228|PMID:33646313|PMID:33649982|PMID:3375802|PMID:33804951|PMID:33804961|PMID:33805315|PMID:33840814|PMID:33842585|PMID:33910496|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34250417|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34482403|PMID:34503154|PMID:34570441|PMID:34585473|PMID:34585738|PMID:34607609|PMID:34646395|PMID:34653963|PMID:34754157|PMID:34771502|PMID:34793666|PMID:34887416|PMID:34897210|PMID:35022142|PMID:35039564|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35205822|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35441217|PMID:35467778|PMID:35534704|PMID:35626031|PMID:35734982|PMID:35739278|PMID:35884425|PMID:35957908|PMID:35980532|PMID:35986085|PMID:36011273|PMID:36035419|PMID:36169650|PMID:36200007|PMID:36243179|PMID:36315097|PMID:36315513|PMID:36338706|PMID:36446039|PMID:36451132|PMID:36531003|PMID:36551643|PMID:36623239|PMID:36627197|PMID:36630951|PMID:36672847|PMID:36833355|PMID:36845387|PMID:36894310|PMID:36896836|PMID:36922933|PMID:36978154|PMID:36988593|PMID:37160887|PMID:37216690|PMID:37306523|PMID:37461096|PMID:37791908|PMID:37885353|PMID:38003901|PMID:38060977|PMID:38298632|PMID:38350919|PMID:38734904|PMID:38748947|PMID:38781545|PMID:38874686|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1316979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11301010|PMID:12872252|PMID:14983014|PMID:15125843|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16199547|PMID:16280053|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:19197335|PMID:19339519|PMID:19584272|PMID:20068231|PMID:20159562|PMID:20173781|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22237106|PMID:22264603|PMID:22792074|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23935105|PMID:24033266|PMID:24448499|PMID:24573678|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26790966|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27153395|PMID:27165003|PMID:27433846|PMID:27443514|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27621404|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28678401|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28991257|PMID:29338072|PMID:29356034|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29507082|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29961768|PMID:30031030|PMID:30093976|PMID:30130155|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30414346|PMID:30441849|PMID:30661751|PMID:30680046|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31768066|PMID:31786208|PMID:31822495|PMID:31871109|PMID:31911633|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32255556|PMID:32359370|PMID:32427313|PMID:32522261|PMID:32542039|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33028645|PMID:33120919|PMID:33309985|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33805315|PMID:33910496|PMID:33980423|PMID:34011307|PMID:34072463|PMID:34204722|PMID:34250417|PMID:34299313|PMID:34326862|PMID:34521114|PMID:34570441|PMID:34585738|PMID:34646395|PMID:34771502|PMID:35039564|PMID:35053526|PMID:35101336|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35264596|PMID:35417938|PMID:35449021|PMID:35534704|PMID:35734982|PMID:35739269|PMID:35739278|PMID:35884425|PMID:35957908|PMID:35986085|PMID:36011273|PMID:36169650|PMID:36243179|PMID:36338706|PMID:36446039|PMID:36451132|PMID:36551643|PMID:36630951|PMID:36845387|PMID:36894310|PMID:36922933|PMID:36978154|PMID:36988593|PMID:37216690|PMID:37306523|PMID:37791908|PMID:37885353|PMID:38136308|PMID:38350919|PMID:38748947|PMID:39400928|PMID:39440754|PMID:39582020|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9007168	Genetic Skin Diseases		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary skin disorder	PMID:22237106|PMID:26534844|PMID:26580448|PMID:28492532
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9007480	Hyperoxia		ISO	RGD:1550783	D	RGD:11252154|PMID:18948842	20160627	RGD		protein:increased expression:lung (mouse)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9007482	Bone Metastasis		ISO	RGD:1316979	D	RGD:11252149|PMID:22875853	20160627	RGD		associated with Breast Neoplasms; human gene in a mouse model	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9007736	Vertigo		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:16280053|PMID:17033622|PMID:25741868|PMID:26467025|PMID:26921362|PMID:26976419|PMID:27153395|PMID:27997549|PMID:28492532|PMID:33471991
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1316979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316979	D	RGD:11554173	20180717	CTD		CTD Direct Evidence: marker/mechanism	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316979	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast neoplasm	PMID:11301010|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16280053|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24895130|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25846551|PMID:25980754|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29485843|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29922827|PMID:29961768|PMID:30086788|PMID:30230034|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30833958|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31742824|PMID:31822495|PMID:31843900|PMID:31871109|PMID:31882575|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33028645|PMID:33115781|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33646313|PMID:3375802|PMID:33842585|PMID:33910496|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34326862|PMID:34503154|PMID:34570441|PMID:34585738|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35205822|PMID:35264596|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35739278|PMID:35957908|PMID:35986085|PMID:36011273|PMID:36035419|PMID:36243179|PMID:36315513|PMID:36627197|PMID:36845387|PMID:36988593|PMID:37885353|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316979	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast neoplasm	PMID:11301010|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16280053|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24895130|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25846551|PMID:25980754|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29922827|PMID:29961768|PMID:30086788|PMID:30230034|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30833958|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31742824|PMID:31822495|PMID:31843900|PMID:31871109|PMID:31882575|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33028645|PMID:33115781|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33646313|PMID:3375802|PMID:33842585|PMID:33910496|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34326862|PMID:34503154|PMID:34570441|PMID:34585738|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35205822|PMID:35264596|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35739278|PMID:35957908|PMID:35986085|PMID:36011273|PMID:36035419|PMID:36243179|PMID:36315513|PMID:36627197|PMID:36845387|PMID:36988593|PMID:37885353|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316979	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRIP1-related condition | ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:11301010|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16280053|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24895130|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25846551|PMID:25980754|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29922827|PMID:29961768|PMID:30086788|PMID:30130155|PMID:30230034|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30833958|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31742824|PMID:31822495|PMID:31843900|PMID:31871109|PMID:31882575|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32959997|PMID:32980694|PMID:33028645|PMID:33047316|PMID:33115781|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33646313|PMID:3375802|PMID:33842585|PMID:33910496|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34326862|PMID:34503154|PMID:34570441|PMID:34585738|PMID:34771502|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35205822|PMID:35264596|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35739278|PMID:35957908|PMID:35980532|PMID:35986085|PMID:36011273|PMID:36035419|PMID:36169650|PMID:36243179|PMID:36315513|PMID:36446039|PMID:36451132|PMID:36627197|PMID:36845387|PMID:36988593|PMID:37160887|PMID:37216690|PMID:37885353|PMID:38060977|PMID:38781545|PMID:38874686|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316979	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRIP1-related condition	PMID:16116423|PMID:16116424|PMID:16116426|PMID:16973432|PMID:17033622|PMID:17576681|PMID:20639400|PMID:20980836|PMID:21279724|PMID:21409391|PMID:21964575|PMID:23555315|PMID:23935105|PMID:24033266|PMID:24448499|PMID:24728327|PMID:24895130|PMID:25186627|PMID:25330149|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26534844|PMID:26635394|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26790966|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27153395|PMID:27462233|PMID:27547810|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28888541|PMID:28911102|PMID:29338072|PMID:29368341|PMID:29368626|PMID:29625052|PMID:29641532|PMID:29961768|PMID:30086788|PMID:30130155|PMID:30306255|PMID:30322717|PMID:30680046|PMID:30833958|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31341520|PMID:31512090|PMID:31589614|PMID:31742824|PMID:31745173|PMID:31822495|PMID:31854063|PMID:31871109|PMID:32068069|PMID:32255556|PMID:32318955|PMID:32427313|PMID:32522261|PMID:32542039|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33115781|PMID:33120919|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33619228|PMID:33646313|PMID:33910496|PMID:34326862|PMID:34570441|PMID:34585738|PMID:34623598|PMID:35186721|PMID:35264596|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35957908|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36446039|PMID:36845387|PMID:36988593|PMID:37160887|PMID:37885353|PMID:38136308|PMID:38874686|PMID:39256447|PMID:39582020|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRIP1-related condition	PMID:15285897|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16973432|PMID:17033622|PMID:17576681|PMID:19339519|PMID:20639400|PMID:20980836|PMID:21409391|PMID:21964575|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24728327|PMID:24895130|PMID:25186627|PMID:25330149|PMID:25741868|PMID:25980754|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26790966|PMID:26845104|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27153395|PMID:27462233|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28767289|PMID:28888541|PMID:28911102|PMID:29338072|PMID:29368341|PMID:29368626|PMID:29625052|PMID:29641532|PMID:29922827|PMID:29961768|PMID:30306255|PMID:30322717|PMID:30680046|PMID:30833958|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31341520|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31854063|PMID:31871109|PMID:32068069|PMID:32255556|PMID:32318955|PMID:32427313|PMID:32522261|PMID:32542039|PMID:32566746|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33120919|PMID:33313162|PMID:33471991|PMID:33606809|PMID:33619228|PMID:33646313|PMID:33842585|PMID:33910496|PMID:34326862|PMID:34570441|PMID:34585738|PMID:34623598|PMID:35186721|PMID:35264596|PMID:35467778|PMID:35534704|PMID:35957908|PMID:36169650|PMID:36243179|PMID:36315513|PMID:36446039|PMID:36627197|PMID:36988593|PMID:37160887|PMID:37885353|PMID:38136308|PMID:38355628|PMID:39582020|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316979	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:11301010|PMID:11865300|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14576433|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763152|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20173781|PMID:20307669|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21398687|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22237106|PMID:22264603|PMID:22287629|PMID:22406018|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23320739|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25640679|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25801821|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26589913|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26691941|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28300276|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569743|PMID:28640387|PMID:28678401|PMID:28709830|PMID:28727877|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29507082|PMID:29515789|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30809968|PMID:30833958|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31794323|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316979	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32371905|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32542039|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32802943|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33008098|PMID:33028645|PMID:33047316|PMID:33115781|PMID:33120919|PMID:33134171|PMID:33224012|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33619228|PMID:33646313|PMID:33649982|PMID:3375802|PMID:33804951|PMID:33804961|PMID:33805315|PMID:33840814|PMID:33842585|PMID:33910496|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34250417|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34482403|PMID:34503154|PMID:34570441|PMID:34585473|PMID:34585738|PMID:34607609|PMID:34646395|PMID:34653963|PMID:34754157|PMID:34771502|PMID:34793666|PMID:34887416|PMID:34897210|PMID:35022142|PMID:35039564|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35205822|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35441217|PMID:35467778|PMID:35534704|PMID:35626031|PMID:35734982|PMID:35739278|PMID:35957908|PMID:35980532|PMID:35986085|PMID:36011273|PMID:36035419|PMID:36169650|PMID:36200007|PMID:36243179|PMID:36315097|PMID:36315513|PMID:36338706|PMID:36446039|PMID:36451132|PMID:36531003|PMID:36551643|PMID:36623239|PMID:36627197|PMID:36630951|PMID:36672847|PMID:36833355|PMID:36845387|PMID:36894310|PMID:36896836|PMID:36922933|PMID:36978154|PMID:36988593|PMID:37160887|PMID:37216690|PMID:37306523|PMID:37461096|PMID:37791908|PMID:37885353|PMID:38003901|PMID:38060977|PMID:38298632|PMID:38350919|PMID:38748947|PMID:38781545|PMID:38874686|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:11301010|PMID:11865300|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14576433|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16199547|PMID:16280053|PMID:16973432|PMID:17033622|PMID:17576681|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19099189|PMID:19197335|PMID:19379763|PMID:19584272|PMID:19763152|PMID:19763819|PMID:20068231|PMID:20159562|PMID:20307669|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21279724|PMID:21345144|PMID:21398687|PMID:21409391|PMID:21964575|PMID:22237106|PMID:22264603|PMID:22406018|PMID:22792074|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23320739|PMID:23555315|PMID:23613520|PMID:23935105|PMID:24033266|PMID:24448499|PMID:24573678|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25401301|PMID:25452441|PMID:25640679|PMID:25741868|PMID:25980754|PMID:25981591|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26637282|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26709662|PMID:26720728|PMID:26790966|PMID:26921362|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27153395|PMID:27165003|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27471560|PMID:27498913|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28300276|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28727877|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28991257|PMID:29053726|PMID:29338072|PMID:29356034|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29507082|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29961768|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30414346|PMID:30441849|PMID:30680046|PMID:30716324|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31064327|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31341520|PMID:31366178|PMID:31512090|PMID:31558676|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31883735|PMID:31911633|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32359370|PMID:32427313|PMID:32542039|PMID:32659497|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33028645|PMID:33032822|PMID:33120919|PMID:33224012|PMID:33309985|PMID:33471991|PMID:33558524|PMID:33619228|PMID:33646313|PMID:33805315|PMID:33910496|PMID:34204722|PMID:34326862|PMID:34521114|PMID:34570441|PMID:34585738|PMID:34646395|PMID:35039564|PMID:35053526|PMID:35101336|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35402282|PMID:35534704|PMID:35626031|PMID:35739269|PMID:35739278|PMID:35884425|PMID:35957908|PMID:36169650|PMID:36243179|PMID:36338706|PMID:36446039|PMID:36451132|PMID:36531003|PMID:36623239|PMID:36630951|PMID:36833355|PMID:36894310|PMID:36922933|PMID:36978154|PMID:36988593|PMID:37791908|PMID:37885353|PMID:38003901|PMID:38136308|PMID:38350919|PMID:38748947|PMID:39400928|PMID:39582020|PMID:9536098
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:16116423|PMID:17033622|PMID:21964575|PMID:22264603|PMID:25058500|PMID:25741868|PMID:27107905|PMID:27165003|PMID:27471560|PMID:28492532|PMID:30256826|PMID:30306255|PMID:31366178|PMID:31786208
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1316979	D	RGD:11252117|PMID:22526901	20160624	RGD		mRNA:increased expression:colon epithelium (human)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1316979	D	RGD:11252105|PMID:27165003	20160624	RGD		DNA:frameshift mutation:cds:p.N568fsX9 (human)	
1307659	Brip1	BRCA1 interacting DNA helicase 1	gene	DOID:962	neurofibroma		ISO	RGD:1316979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurofibroma	PMID:25741868|PMID:28492532|PMID:33471991
1307662	Ankrd9	ankyrin repeat domain 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307662	Ankrd9	ankyrin repeat domain 9	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1316983	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1307665	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307665	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:0050684	Bowen-Conradi syndrome		ISO	RGD:1607076	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307665	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:0050684	Bowen-Conradi syndrome		ISO	RGD:1607076	D	RGD:7240710	20130221	OMIM			
1307665	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:0050684	Bowen-Conradi syndrome		ISO	RGD:1607076	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BOWEN-CONRADI SYNDROME	
1307665	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:0050684	Bowen-Conradi syndrome		ISS	RGD:1316987	D	RGD:13592920	20230718	MouseDO		OMIM:211180	
1307665	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307665	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1607076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307665	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307665	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1607076	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1307665	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307665	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1607076	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307665	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307665	Emg1	EMG1 N1-specific pseudouridine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307666	Enah	ENAH, actin regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307666	Enah	ENAH, actin regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1316988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307666	Enah	ENAH, actin regulator	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1316988	D	RGD:597621672|PMID:30728082	20250206	RGD			
1307666	Enah	ENAH, actin regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307666	Enah	ENAH, actin regulator	gene	DOID:1115	sarcoma		ISO	RGD:1316988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307666	Enah	ENAH, actin regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307666	Enah	ENAH, actin regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1316988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307666	Enah	ENAH, actin regulator	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307666	Enah	ENAH, actin regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307666	Enah	ENAH, actin regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307666	Enah	ENAH, actin regulator	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1316988	D	RGD:155791678|PMID:35030977	20230105	RGD		mRNA:increased expression:liver (human)	
1307666	Enah	ENAH, actin regulator	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307666	Enah	ENAH, actin regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307666	Enah	ENAH, actin regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316988	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26237430
1307668	Mrps31	mitochondrial ribosomal protein S31	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307668	Mrps31	mitochondrial ribosomal protein S31	gene	DOID:10534	stomach cancer		ISO	RGD:1316990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307668	Mrps31	mitochondrial ribosomal protein S31	gene	DOID:3275	thymoma		ISO	RGD:1316990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307668	Mrps31	mitochondrial ribosomal protein S31	gene	DOID:5041	esophageal cancer		ISO	RGD:1316990	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307668	Mrps31	mitochondrial ribosomal protein S31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307668	Mrps31	mitochondrial ribosomal protein S31	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307668	Mrps31	mitochondrial ribosomal protein S31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307669	Myoz2	myozenin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:17347475|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31513939
1307669	Myoz2	myozenin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1307669	Myoz2	myozenin 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868|PMID:31333075|PMID:31568572
1307669	Myoz2	myozenin 2	gene	DOID:0110322	hypertrophic cardiomyopathy 16		ISO	RGD:1316992	D	RGD:7240710	20140911	OMIM			
1307669	Myoz2	myozenin 2	gene	DOID:0110322	hypertrophic cardiomyopathy 16		ISO	RGD:1316992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 | ClinVar Annotator: match by term: MYOZ2-related condition	PMID:17347475|PMID:24033266|PMID:25741868|PMID:28492532
1307669	Myoz2	myozenin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307669	Myoz2	myozenin 2	gene	DOID:1059	intellectual disability		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:21681106|PMID:23310962
1307669	Myoz2	myozenin 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:16199547|PMID:17576681|PMID:22310962|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27066507|PMID:27600940|PMID:27788187|PMID:28492532|PMID:28798025|PMID:9536098
1307669	Myoz2	myozenin 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1316992	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:16199547|PMID:17347475|PMID:17576681|PMID:22310962|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27066507|PMID:27600940|PMID:27788187|PMID:28492532|PMID:28798025|PMID:9536098
1307669	Myoz2	myozenin 2	gene	DOID:1324	lung cancer		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1307669	Myoz2	myozenin 2	gene	DOID:1909	melanoma		ISO	RGD:1316992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307669	Myoz2	myozenin 2	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1316992	D	RGD:8554872	20191112	ClinVar		ClinVar Annotator: match by term: Restrictive cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:0060366	Hennekam syndrome		ISO	RGD:1349047	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19911200|PMID:19935664
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:0060366	Hennekam syndrome		ISO	RGD:1349047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome | ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED	PMID:16199547|PMID:19911200|PMID:19935664|PMID:21778431|PMID:22239599|PMID:23653581|PMID:24167460|PMID:25741868|PMID:25814692|PMID:26686525|PMID:27345729|PMID:28073151|PMID:28492532|PMID:32472549|PMID:32629717|PMID:38441203|PMID:39052144
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:1059	intellectual disability		ISO	RGD:1349047	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19935664
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:1349047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchopulmonary dysplasia of newborn	PMID:22239599|PMID:25741868|PMID:27345729|PMID:28073151|PMID:28492532
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:3275	thymoma		ISO	RGD:1349047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:630	genetic disease		ISO	RGD:1349047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:19935664|PMID:21778431|PMID:25741868|PMID:26686525|PMID:28492532
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349047	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:9001487	Facies		ISO	RGD:1349047	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19935664
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:9003821	Hennekam Lymphangiectasia-Lymphedema Syndrome 1		ISO	RGD:1349047	D	RGD:7240710	20190320	OMIM			
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:9003821	Hennekam Lymphangiectasia-Lymphedema Syndrome 1		ISO	RGD:1349047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CCBE1-related condition | ClinVar Annotator: match by term: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 | ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1	PMID:16199547|PMID:17576681|PMID:19911200|PMID:19935664|PMID:21778431|PMID:22239599|PMID:23653581|PMID:24167460|PMID:25741868|PMID:25814692|PMID:26686525|PMID:27345729|PMID:28073151|PMID:28492532|PMID:28985353|PMID:32472549|PMID:32629717|PMID:39052144|PMID:9536098
1307670	Ccbe1	collagen and calcium binding EGF domains 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1349047	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19911200
1307671	Med23	mediator complex subunit 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307671	Med23	mediator complex subunit 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1307671	Med23	mediator complex subunit 23	gene	DOID:0060058	lymphoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307671	Med23	mediator complex subunit 23	gene	DOID:0081190	autosomal recessive intellectual developmental disorder 18		ISO	RGD:1316995	D	RGD:7240710	20140911	OMIM			
1307671	Med23	mediator complex subunit 23	gene	DOID:0081190	autosomal recessive intellectual developmental disorder 18		ISO	RGD:1316995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 18 | ClinVar Annotator: match by term: MED23-related condition	PMID:25741868|PMID:25845469|PMID:27124789|PMID:28492532
1307671	Med23	mediator complex subunit 23	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1316995	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
1307671	Med23	mediator complex subunit 23	gene	DOID:1059	intellectual disability		ISO	RGD:1316995	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1307671	Med23	mediator complex subunit 23	gene	DOID:10907	microcephaly		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1307671	Med23	mediator complex subunit 23	gene	DOID:1115	sarcoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1307671	Med23	mediator complex subunit 23	gene	DOID:12849	autistic disorder		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 2	
1307671	Med23	mediator complex subunit 23	gene	DOID:1324	lung cancer		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307671	Med23	mediator complex subunit 23	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
1307671	Med23	mediator complex subunit 23	gene	DOID:3275	thymoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1307671	Med23	mediator complex subunit 23	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307671	Med23	mediator complex subunit 23	gene	DOID:4362	cervical cancer		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307671	Med23	mediator complex subunit 23	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
1307671	Med23	mediator complex subunit 23	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316995	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307671	Med23	mediator complex subunit 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1316995	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307671	Med23	mediator complex subunit 23	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307671	Med23	mediator complex subunit 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1307671	Med23	mediator complex subunit 23	gene	DOID:630	genetic disease		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:31164858
1307671	Med23	mediator complex subunit 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1307671	Med23	mediator complex subunit 23	gene	DOID:8927	learning disability		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
1307671	Med23	mediator complex subunit 23	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	
1307671	Med23	mediator complex subunit 23	gene	DOID:9003507	Premature Birth		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1307671	Med23	mediator complex subunit 23	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307671	Med23	mediator complex subunit 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307671	Med23	mediator complex subunit 23	gene	DOID:9007661	Dwarfism		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1307671	Med23	mediator complex subunit 23	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1307671	Med23	mediator complex subunit 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307671	Med23	mediator complex subunit 23	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307672	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307672	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307672	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307672	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:1909	melanoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307672	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307672	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307672	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307672	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307672	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307672	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307672	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307672	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307672	Zup1	zinc finger containing ubiquitin peptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307673	Mcur1	mitochondrial calcium uniporter regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307673	Mcur1	mitochondrial calcium uniporter regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307673	Mcur1	mitochondrial calcium uniporter regulator 1	gene	DOID:9005189	Vacuolar Myopathy		ISO	RGD:1349094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: vacuolar myopathy	PMID:25741868
1307673	Mcur1	mitochondrial calcium uniporter regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307673	Mcur1	mitochondrial calcium uniporter regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307674	Slmap	sarcolemma associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307674	Slmap	sarcolemma associated protein	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1317000	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098
1307674	Slmap	sarcolemma associated protein	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1317000	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30689869|PMID:30847666|PMID:9536098
1307674	Slmap	sarcolemma associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307674	Slmap	sarcolemma associated protein	gene	DOID:0060058	lymphoma		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307674	Slmap	sarcolemma associated protein	gene	DOID:0060319	cardiac arrest		ISO	RGD:1317000	D	RGD:8554872	20160308	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	
1307674	Slmap	sarcolemma associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307674	Slmap	sarcolemma associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307674	Slmap	sarcolemma associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307674	Slmap	sarcolemma associated protein	gene	DOID:2843	long QT syndrome		ISO	RGD:1317000	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:28492532
1307674	Slmap	sarcolemma associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307674	Slmap	sarcolemma associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307674	Slmap	sarcolemma associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307674	Slmap	sarcolemma associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307674	Slmap	sarcolemma associated protein	gene	DOID:9002919	Sudden Unexpected Nocturnal Death Syndrome		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome	PMID:25741868|PMID:28492532
1307674	Slmap	sarcolemma associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307674	Slmap	sarcolemma associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307674	Slmap	sarcolemma associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307675	Disp1	dispatched RND transporter family member 1	gene	DOID:0110876	holoprosencephaly 7		ISO	RGD:1317002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly 7	PMID:25741868|PMID:28492532|PMID:38529886
1307675	Disp1	dispatched RND transporter family member 1	gene	DOID:10485	esophageal atresia		ISO	RGD:1317002	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:25741868
1307675	Disp1	dispatched RND transporter family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307675	Disp1	dispatched RND transporter family member 1	gene	DOID:1826	epilepsy		ISO	RGD:1317002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1307675	Disp1	dispatched RND transporter family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307675	Disp1	dispatched RND transporter family member 1	gene	DOID:4621	holoprosencephaly		ISO	RGD:1317002	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Microform holoprosencephaly | ClinVar Annotator: match by term: lobar holoprosencephaly | ClinVar Annotator: match by term: microform holoprosencephaly	PMID:25741868|PMID:28492532|PMID:28640243
1307675	Disp1	dispatched RND transporter family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317002	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307675	Disp1	dispatched RND transporter family member 1	gene	DOID:9008280	Holoprosencephaly 10		ISO	RGD:1317002	D	RGD:7240710	20250423	OMIM			
1307675	Disp1	dispatched RND transporter family member 1	gene	DOID:9008280	Holoprosencephaly 10		ISO	RGD:1317002	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DISP1-related condition | ClinVar Annotator: match by term: HOLOPROSENCEPHALY 10 | ClinVar Annotator: match by term: Holoprosencephaly 10	PMID:25741868|PMID:28492532
1307675	Disp1	dispatched RND transporter family member 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1317002	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1307676	Fam117b	family with sequence similarity 117, member B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307676	Fam117b	family with sequence similarity 117, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307676	Fam117b	family with sequence similarity 117, member B	gene	DOID:0060058	lymphoma		ISO	RGD:1317004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307676	Fam117b	family with sequence similarity 117, member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307676	Fam117b	family with sequence similarity 117, member B	gene	DOID:1115	sarcoma		ISO	RGD:1317004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307676	Fam117b	family with sequence similarity 117, member B	gene	DOID:3070	high grade glioma		ISO	RGD:1317004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307676	Fam117b	family with sequence similarity 117, member B	gene	DOID:4362	cervical cancer		ISO	RGD:1317004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307676	Fam117b	family with sequence similarity 117, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307676	Fam117b	family with sequence similarity 117, member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307676	Fam117b	family with sequence similarity 117, member B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317004	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307676	Fam117b	family with sequence similarity 117, member B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307678	Adamts6	ADAM metallopeptidase with thrombospondin type 1 motif, 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307678	Adamts6	ADAM metallopeptidase with thrombospondin type 1 motif, 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307678	Adamts6	ADAM metallopeptidase with thrombospondin type 1 motif, 6	gene	DOID:0060058	lymphoma		ISO	RGD:1317007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307678	Adamts6	ADAM metallopeptidase with thrombospondin type 1 motif, 6	gene	DOID:10534	stomach cancer		ISO	RGD:1317007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307678	Adamts6	ADAM metallopeptidase with thrombospondin type 1 motif, 6	gene	DOID:1115	sarcoma		ISO	RGD:1317007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307678	Adamts6	ADAM metallopeptidase with thrombospondin type 1 motif, 6	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1317007	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1307678	Adamts6	ADAM metallopeptidase with thrombospondin type 1 motif, 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307678	Adamts6	ADAM metallopeptidase with thrombospondin type 1 motif, 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307678	Adamts6	ADAM metallopeptidase with thrombospondin type 1 motif, 6	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1307679	Clp1	cleavage factor polyribonucleotide kinase subunit 1	gene	DOID:0060279	pontocerebellar hypoplasia type 10		ISO	RGD:1602724	D	RGD:7240710	20140911	OMIM			
1307679	Clp1	cleavage factor polyribonucleotide kinase subunit 1	gene	DOID:0060279	pontocerebellar hypoplasia type 10		ISO	RGD:1602724	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CLP1-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 10	PMID:25741868|PMID:28492532
1307679	Clp1	cleavage factor polyribonucleotide kinase subunit 1	gene	DOID:0060279	pontocerebellar hypoplasia type 10		ISS	RGD:1317008	D	RGD:13592920	20230718	MouseDO		OMIM:615803	
1307679	Clp1	cleavage factor polyribonucleotide kinase subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1602724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307679	Clp1	cleavage factor polyribonucleotide kinase subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307679	Clp1	cleavage factor polyribonucleotide kinase subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1602724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307679	Clp1	cleavage factor polyribonucleotide kinase subunit 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602724	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307680	Ube2q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307680	Ube2q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:10534	stomach cancer		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307680	Ube2q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1605308	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Congenital dyserythropoietic anemia	PMID:25741868
1307680	Ube2q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307680	Ube2q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:3070	high grade glioma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307680	Ube2q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:4362	cervical cancer		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307680	Ube2q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307680	Ube2q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307680	Ube2q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307680	Ube2q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307680	Ube2q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307680	Ube2q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307680	Ube2q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307680	Ube2q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307681	Ctsg	cathepsin G	gene	DOID:4362	cervical cancer		ISO	RGD:1317010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307681	Ctsg	cathepsin G	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307681	Ctsg	cathepsin G	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1317011	D	RGD:7242055|PMID:17322378	20130326	RGD			
1307682	Ift46	intraflagellar transport 46	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307682	Ift46	intraflagellar transport 46	gene	DOID:1324	lung cancer		ISO	RGD:1604332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307682	Ift46	intraflagellar transport 46	gene	DOID:3275	thymoma		ISO	RGD:1604332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307682	Ift46	intraflagellar transport 46	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307682	Ift46	intraflagellar transport 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307682	Ift46	intraflagellar transport 46	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307683	Fcho1	FCH and mu domain containing endocytic adaptor 1	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1317013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe congenital neutropenia	PMID:32098969
1307683	Fcho1	FCH and mu domain containing endocytic adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
1307683	Fcho1	FCH and mu domain containing endocytic adaptor 1	gene	DOID:10316	pneumoconiosis		ISO	RGD:1317013	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
1307683	Fcho1	FCH and mu domain containing endocytic adaptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1317013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related condition	
1307683	Fcho1	FCH and mu domain containing endocytic adaptor 1	gene	DOID:3275	thymoma		ISO	RGD:1317013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307683	Fcho1	FCH and mu domain containing endocytic adaptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307683	Fcho1	FCH and mu domain containing endocytic adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307683	Fcho1	FCH and mu domain containing endocytic adaptor 1	gene	DOID:9003039	Immunodeficiency 76		ISO	RGD:1317013	D	RGD:7240710	20210303	OMIM			
1307683	Fcho1	FCH and mu domain containing endocytic adaptor 1	gene	DOID:9003039	Immunodeficiency 76		ISO	RGD:1317013	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FCHO1-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 76 | ClinVar Annotator: match by term: Immunodeficiency 76	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307683	Fcho1	FCH and mu domain containing endocytic adaptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307683	Fcho1	FCH and mu domain containing endocytic adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307683	Fcho1	FCH and mu domain containing endocytic adaptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307684	Extl2	exostosin-like glycosyltransferase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1317015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307684	Extl2	exostosin-like glycosyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317015	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307684	Extl2	exostosin-like glycosyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317015	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307684	Extl2	exostosin-like glycosyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317015	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307684	Extl2	exostosin-like glycosyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307685	Cavin1	caveolae associated protein 1	gene	DOID:0050585	congenital generalized lipodystrophy		ISO	RGD:1317017	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Congenital generalized lipodystrophy	
1307685	Cavin1	caveolae associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307685	Cavin1	caveolae associated protein 1	gene	DOID:0111138	congenital generalized lipodystrophy type 4		ISO	RGD:1317017	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1307685	Cavin1	caveolae associated protein 1	gene	DOID:0111138	congenital generalized lipodystrophy type 4		ISO	RGD:1317017	D	RGD:7240710	20130221	OMIM			
1307685	Cavin1	caveolae associated protein 1	gene	DOID:0111138	congenital generalized lipodystrophy type 4		ISO	RGD:1317017	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CAVIN1-related condition | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4 | ClinVar Annotator: match by term: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4	PMID:20300641|PMID:24503134|PMID:25741868|PMID:26467025|PMID:28492532
1307685	Cavin1	caveolae associated protein 1	gene	DOID:0111138	congenital generalized lipodystrophy type 4		ISS	RGD:1317018	D	RGD:13592920	20230718	MouseDO		OMIM:613327	
1307685	Cavin1	caveolae associated protein 1	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1317017	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:16823967
1307685	Cavin1	caveolae associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307685	Cavin1	caveolae associated protein 1	gene	DOID:6432	pulmonary hypertension		ISS	RGD:1317018	D	RGD:13592920	20180518	MouseDO		OMIM:615371	
1307685	Cavin1	caveolae associated protein 1	gene	DOID:811	lipodystrophy		ISO	RGD:1317017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lipodystrophy	PMID:25741868|PMID:28492532
1307685	Cavin1	caveolae associated protein 1	gene	DOID:9004657	Weight Gain		ISO	RGD:1317017	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1307685	Cavin1	caveolae associated protein 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1317017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin resistance	PMID:25741868|PMID:28492532
1307685	Cavin1	caveolae associated protein 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1317017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:25741868|PMID:28492532
1307687	Skor1	SKI family transcriptional corepressor 1	gene	DOID:1909	melanoma		ISO	RGD:1605497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307687	Skor1	SKI family transcriptional corepressor 1	gene	DOID:3275	thymoma		ISO	RGD:1605497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307687	Skor1	SKI family transcriptional corepressor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307687	Skor1	SKI family transcriptional corepressor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307689	Ccdc25	coiled-coil domain containing 25	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307689	Ccdc25	coiled-coil domain containing 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307689	Ccdc25	coiled-coil domain containing 25	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307689	Ccdc25	coiled-coil domain containing 25	gene	DOID:1324	lung cancer		ISO	RGD:1605370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307689	Ccdc25	coiled-coil domain containing 25	gene	DOID:4362	cervical cancer		ISO	RGD:1605370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307689	Ccdc25	coiled-coil domain containing 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307689	Ccdc25	coiled-coil domain containing 25	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307690	Nfatc2	nuclear factor of activated T-cells 2	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1317023	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	
1307690	Nfatc2	nuclear factor of activated T-cells 2	gene	DOID:3275	thymoma		ISO	RGD:1317023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307690	Nfatc2	nuclear factor of activated T-cells 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317023	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307690	Nfatc2	nuclear factor of activated T-cells 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307690	Nfatc2	nuclear factor of activated T-cells 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307690	Nfatc2	nuclear factor of activated T-cells 2	gene	DOID:6432	pulmonary hypertension		IMP		D	RGD:1627651|PMID:17596340	20081216	RGD			
1307690	Nfatc2	nuclear factor of activated T-cells 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1317023	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:27522126
1307690	Nfatc2	nuclear factor of activated T-cells 2	gene	DOID:863	nervous system disease		ISO	RGD:1317023	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21245421
1307690	Nfatc2	nuclear factor of activated T-cells 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307690	Nfatc2	nuclear factor of activated T-cells 2	gene	DOID:9008054	JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA		ISO	RGD:1317023	D	RGD:7240710	20230505	OMIM			
1307690	Nfatc2	nuclear factor of activated T-cells 2	gene	DOID:9008054	JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA		ISO	RGD:1317023	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Joint contractures, osteochondromas, and B-cell lymphoma	PMID:25741868|PMID:35789258
1307690	Nfatc2	nuclear factor of activated T-cells 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307690	Nfatc2	nuclear factor of activated T-cells 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317023	D	RGD:11554173	20190409	CTD		CTD Direct Evidence: marker/mechanism	PMID:30718926
1307691	Rilp	Rab interacting lysosomal protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307691	Rilp	Rab interacting lysosomal protein	gene	DOID:1909	melanoma		ISO	RGD:1317025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307691	Rilp	Rab interacting lysosomal protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307691	Rilp	Rab interacting lysosomal protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307692	Dmxl1	Dmx-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307692	Dmxl1	Dmx-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307692	Dmxl1	Dmx-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307692	Dmxl1	Dmx-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307692	Dmxl1	Dmx-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307692	Dmxl1	Dmx-like 1	gene	DOID:1909	melanoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307692	Dmxl1	Dmx-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307692	Dmxl1	Dmx-like 1	gene	DOID:3070	high grade glioma		ISO	RGD:1317027	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16865689
1307692	Dmxl1	Dmx-like 1	gene	DOID:3275	thymoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307692	Dmxl1	Dmx-like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307692	Dmxl1	Dmx-like 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307692	Dmxl1	Dmx-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307692	Dmxl1	Dmx-like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307692	Dmxl1	Dmx-like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307692	Dmxl1	Dmx-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317027	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307692	Dmxl1	Dmx-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307692	Dmxl1	Dmx-like 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307692	Dmxl1	Dmx-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307692	Dmxl1	Dmx-like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307692	Dmxl1	Dmx-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307692	Dmxl1	Dmx-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307692	Dmxl1	Dmx-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307692	Dmxl1	Dmx-like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1317027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307693	Kifc3	kinesin family member C3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307693	Kifc3	kinesin family member C3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307693	Kifc3	kinesin family member C3	gene	DOID:10534	stomach cancer		ISO	RGD:1317029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307693	Kifc3	kinesin family member C3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307693	Kifc3	kinesin family member C3	gene	DOID:1115	sarcoma		ISO	RGD:1317029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307693	Kifc3	kinesin family member C3	gene	DOID:1909	melanoma		ISO	RGD:1317029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307693	Kifc3	kinesin family member C3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307693	Kifc3	kinesin family member C3	gene	DOID:4362	cervical cancer		ISO	RGD:1317029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307693	Kifc3	kinesin family member C3	gene	DOID:5041	esophageal cancer		ISO	RGD:1317029	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307693	Kifc3	kinesin family member C3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307693	Kifc3	kinesin family member C3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307693	Kifc3	kinesin family member C3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307693	Kifc3	kinesin family member C3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307693	Kifc3	kinesin family member C3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1307695	Kif20a	kinesin family member 20A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307695	Kif20a	kinesin family member 20A	gene	DOID:0060058	lymphoma		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307695	Kif20a	kinesin family member 20A	gene	DOID:0061025	familial restrictive cardiomyopathy 6		ISO	RGD:1317032	D	RGD:7240710	20210728	OMIM			
1307695	Kif20a	kinesin family member 20A	gene	DOID:0061025	familial restrictive cardiomyopathy 6		ISO	RGD:1317032	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 | ClinVar Annotator: match by term: KIF20A-related condition	PMID:25741868|PMID:28492532|PMID:29357359
1307695	Kif20a	kinesin family member 20A	gene	DOID:0080600	COVID-19		ISO	RGD:1317032	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307695	Kif20a	kinesin family member 20A	gene	DOID:10534	stomach cancer		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomach cancer	
1307695	Kif20a	kinesin family member 20A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307695	Kif20a	kinesin family member 20A	gene	DOID:1115	sarcoma		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307695	Kif20a	kinesin family member 20A	gene	DOID:1324	lung cancer		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307695	Kif20a	kinesin family member 20A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307695	Kif20a	kinesin family member 20A	gene	DOID:5041	esophageal cancer		ISO	RGD:1317032	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307695	Kif20a	kinesin family member 20A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317032	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307695	Kif20a	kinesin family member 20A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1307695	Kif20a	kinesin family member 20A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307695	Kif20a	kinesin family member 20A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307696	Fitm2	fat storage-inducing transmembrane protein 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1317034	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
1307696	Fitm2	fat storage-inducing transmembrane protein 2	gene	DOID:0081273	Siddiqi syndrome		ISO	RGD:1317034	D	RGD:7240710	20191127	OMIM			
1307696	Fitm2	fat storage-inducing transmembrane protein 2	gene	DOID:0081273	Siddiqi syndrome		ISO	RGD:1317034	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, DYSTONIA, DEVELOPMENTAL DELAY, AND POOR GROWTH | ClinVar Annotator: match by term: FITM2-related condition | ClinVar Annotator: match by term: SIDDIQI SYNDROME | ClinVar Annotator: match by term: Siddiqi syndrome	PMID:25741868
1307696	Fitm2	fat storage-inducing transmembrane protein 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317034	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1307696	Fitm2	fat storage-inducing transmembrane protein 2	gene	DOID:12835	quadriplegia		ISO	RGD:1317034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraplegia	
1307696	Fitm2	fat storage-inducing transmembrane protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307696	Fitm2	fat storage-inducing transmembrane protein 2	gene	DOID:9000343	Vision Disorders		ISO	RGD:1317034	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Visual impairment	
1307696	Fitm2	fat storage-inducing transmembrane protein 2	gene	DOID:9000831	Hypokinesia		ISO	RGD:1317034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	
1307696	Fitm2	fat storage-inducing transmembrane protein 2	gene	DOID:9001722	Dysarthria		ISO	RGD:1317034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic dysarthria	
1307696	Fitm2	fat storage-inducing transmembrane protein 2	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1317034	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
1307696	Fitm2	fat storage-inducing transmembrane protein 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1317034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1307696	Fitm2	fat storage-inducing transmembrane protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307696	Fitm2	fat storage-inducing transmembrane protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1317034	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	
1307696	Fitm2	fat storage-inducing transmembrane protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317034	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1307697	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307697	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307697	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:10534	stomach cancer		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307697	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307697	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307697	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:4362	cervical cancer		ISO	RGD:1354500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307697	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307697	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307697	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307697	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1354500	D	RGD:11554173	20200331	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307697	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307697	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307697	Cyrib	CYFIP related Rac1 interactor B	gene	DOID:9775	diastolic heart failure		ISO	RGD:1354500	D	RGD:11554173	20200331	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1307698	Ptpdc1	protein tyrosine phosphatase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307698	Ptpdc1	protein tyrosine phosphatase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307698	Ptpdc1	protein tyrosine phosphatase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1317037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307698	Ptpdc1	protein tyrosine phosphatase domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1317037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307698	Ptpdc1	protein tyrosine phosphatase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1317037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307698	Ptpdc1	protein tyrosine phosphatase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307698	Ptpdc1	protein tyrosine phosphatase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307698	Ptpdc1	protein tyrosine phosphatase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1317039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:0080558	congenital disorder of glycosylation If		ISO	RGD:1317039	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:0080558	congenital disorder of glycosylation If		ISO	RGD:1317039	D	RGD:7240710	20130221	OMIM			
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:0080558	congenital disorder of glycosylation If		ISO	RGD:1317039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDG If | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | ClinVar Annotator: match by term: MPDU1-related condition	PMID:11733564|PMID:25741868|PMID:28492532
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:0080600	COVID-19		ISO	RGD:1317039	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:1059	intellectual disability		ISO	RGD:1317039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:1324	lung cancer		ISO	RGD:1317039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1317039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:28940310
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:1826	epilepsy		ISO	RGD:1317039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:2862	glucosephosphate dehydrogenase deficiency		ISO	RGD:1317039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: G6PD deficiency	PMID:28940310
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1317039	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Congenital disorders of glycosylation	
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:630	genetic disease		ISO	RGD:1317039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1317039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1307699	Mpdu1	mannose-P-dolichol utilization defect 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307700	Mitd1	microtubule interacting and trafficking domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1602187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307700	Mitd1	microtubule interacting and trafficking domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1602187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307700	Mitd1	microtubule interacting and trafficking domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:0061034	autosomal dominant intellectual developmental disorder 61		ISO	RGD:1317042	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder 61	PMID:25741868
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:0112175	spermatogenic failure 47		ISO	RGD:1317042	D	RGD:7240710	20201202	OMIM			
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:0112175	spermatogenic failure 47		ISO	RGD:1317042	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 47 | ClinVar Annotator: match by term: Spermatogenic failure 47 | ClinVar Annotator: match by term: spermatogenic failure 47	PMID:25741868
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:0112175	spermatogenic failure 47		ISS	RGD:1550795	D	RGD:13592920	20230718	MouseDO		OMIM:619102	
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1317042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:1909	melanoma		ISO	RGD:1317042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1317042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317042	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:9007938	Myxomatous Mitral Valve Prolapse 3		ISO	RGD:1317042	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:9007938	Myxomatous Mitral Valve Prolapse 3		ISO	RGD:1317042	D	RGD:7240710	20201202	OMIM			
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307701	Dzip1	DAZ interacting zinc finger protein 1	gene	DOID:988	mitral valve prolapse		ISS	RGD:1317042	D	RGD:13592920	20201210	MouseDO		OMIM:157700 | OMIM:607829 | OMIM:610840	
1307702	Ncoa5	nuclear receptor coactivator 5	gene	DOID:10534	stomach cancer		ISO	RGD:1317043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307702	Ncoa5	nuclear receptor coactivator 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307702	Ncoa5	nuclear receptor coactivator 5	gene	DOID:4362	cervical cancer		ISO	RGD:1317043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307702	Ncoa5	nuclear receptor coactivator 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307702	Ncoa5	nuclear receptor coactivator 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307703	Tmem161a	transmembrane protein 161A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307703	Tmem161a	transmembrane protein 161A	gene	DOID:0060058	lymphoma		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307703	Tmem161a	transmembrane protein 161A	gene	DOID:1115	sarcoma		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307703	Tmem161a	transmembrane protein 161A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307703	Tmem161a	transmembrane protein 161A	gene	DOID:4362	cervical cancer		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307703	Tmem161a	transmembrane protein 161A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603037	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307703	Tmem161a	transmembrane protein 161A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307703	Tmem161a	transmembrane protein 161A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307703	Tmem161a	transmembrane protein 161A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307703	Tmem161a	transmembrane protein 161A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:10283	prostate cancer		ISO	RGD:1317048	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1317048	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1317048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1317048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1317048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:4467	clear cell renal cell carcinoma	disease_progression	ISO	RGD:1317048	D	RGD:13504816|PMID:25744653	20180125	RGD			
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:769	neuroblastoma		ISO	RGD:1317048	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:29048629
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:8466	retinal degeneration		ISO	RGD:1317049	D	RGD:7775028|PMID:16505058	20131230	RGD		mRNA:increased expression:retina	
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1317048	D	RGD:7775027|PMID:20697354	20131230	RGD			
1307705	Pak4	p21 (RAC1) activated kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307706	Commd9	COMM domain containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307706	Commd9	COMM domain containing 9	gene	DOID:0080600	COVID-19		ISO	RGD:1317050	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307706	Commd9	COMM domain containing 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1317050	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307706	Commd9	COMM domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307706	Commd9	COMM domain containing 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1317052	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:11830	myopia		ISO	RGD:1317052	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:1826	epilepsy		ISO	RGD:1317052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1317052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:206	hereditary multiple exostoses		ISO	RGD:1317052	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23439489
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:206	hereditary multiple exostoses		ISO	RGD:1317052	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: multiple exostosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:206	hereditary multiple exostoses		ISS	RGD:1317053	D	RGD:13592920	20230718	MouseDO		OMIM:133700 | OMIM:133701 | OMIM:600209	
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1317052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:3087	gingivitis		ISO	RGD:1317052	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1317052	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317052	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:480	movement disease		ISO	RGD:1317052	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317052	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:10679937|PMID:11668521|PMID:16199547|PMID:19810120|PMID:28492532
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:1317052	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10679937|PMID:19344451|PMID:19810120|PMID:21520333|PMID:25741868|PMID:26246518|PMID:28492532|PMID:30544257|PMID:32293802
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:687	hepatoblastoma		ISO	RGD:1317052	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1317052	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1317052	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1317052	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868|PMID:28492532
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9003050	Multiple Exostoses Type I		ISO	RGD:1317052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I	PMID:25741868|PMID:28492532
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	PMID:25741868
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9003693	Multiple Exostoses Type II		ISO	RGD:1317052	D	RGD:7240710	20130221	OMIM			
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9003693	Multiple Exostoses Type II		ISO	RGD:1317052	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 | ClinVar Annotator: match by term: Multiple exostoses type 2 | ClinVar Annotator: match by term: exostoses, multiple, type 2	PMID:10480354|PMID:10671060|PMID:10679296|PMID:10679937|PMID:10713884|PMID:10750558|PMID:11169766|PMID:11432960|PMID:11668521|PMID:12239711|PMID:12490068|PMID:15221792|PMID:15586175|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:17301954|PMID:17576681|PMID:17589361|PMID:18165274|PMID:18373409|PMID:18666861|PMID:18976157|PMID:19344451|PMID:19504431|PMID:19810120|PMID:19839753|PMID:20425833|PMID:21520333|PMID:21703028|PMID:22258776|PMID:22382802|PMID:22820392|PMID:23262345|PMID:23439489|PMID:23629877|PMID:24120389|PMID:24496678|PMID:24728384|PMID:25230886|PMID:25449079|PMID:25468659|PMID:25640679|PMID:25741868|PMID:26246518|PMID:26402641|PMID:26961984|PMID:27748933|PMID:28492532|PMID:28690282|PMID:28849184|PMID:29126381|PMID:29529714|PMID:29625052|PMID:30105120|PMID:30334991|PMID:3080661|PMID:30806661|PMID:31030431|PMID:31096510|PMID:32678989|PMID:34070849|PMID:34403521|PMID:38351015|PMID:9326317|PMID:9463333|PMID:9536098
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1317052	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9005193	Osteochondroma		ISO	RGD:1317052	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Osteochondroma	PMID:10679937|PMID:10713884|PMID:19810120|PMID:23262345|PMID:23439489|PMID:23629877|PMID:25741868|PMID:26961984|PMID:28492532|PMID:30105120
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9009204	SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME		ISO	RGD:1317052	D	RGD:7240710	20180822	OMIM			
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9009204	SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME		ISO	RGD:1317052	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME | ClinVar Annotator: match by term: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME | ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome	PMID:10679937|PMID:10713884|PMID:10750558|PMID:11169766|PMID:12490068|PMID:17589361|PMID:18165274|PMID:19344451|PMID:19810120|PMID:20425833|PMID:23262345|PMID:23439489|PMID:23629877|PMID:25741868|PMID:26246518|PMID:26961984|PMID:28492532|PMID:30105120|PMID:30288735|PMID:30997052
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317052	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1307707	Ext2	exostosin glycosyltransferase 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1317052	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:25741868|PMID:28492532
1307710	Tmem14a	transmembrane protein 14A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307710	Tmem14a	transmembrane protein 14A	gene	DOID:1909	melanoma		ISO	RGD:1317058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307710	Tmem14a	transmembrane protein 14A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307710	Tmem14a	transmembrane protein 14A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307710	Tmem14a	transmembrane protein 14A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307711	Klf17	KLF transcription factor 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307712	Rsph1	radial spoke head component 1	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1317061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kartagener syndrome	PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30609409|PMID:31772028|PMID:31980526|PMID:32253119
1307712	Rsph1	radial spoke head component 1	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1317061	D	RGD:152177496|PMID:27354594	20220513	RGD		DNA:SNP:3'utr: (rs2839531) T>C (human)	
1307712	Rsph1	radial spoke head component 1	gene	DOID:0110594	primary ciliary dyskinesia 1		ISO	RGD:1317061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1	PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30609409|PMID:31772028|PMID:31980526|PMID:32253119
1307712	Rsph1	radial spoke head component 1	gene	DOID:0110628	primary ciliary dyskinesia 24		ISO	RGD:1317061	D	RGD:7240710	20140911	OMIM			
1307712	Rsph1	radial spoke head component 1	gene	DOID:0110628	primary ciliary dyskinesia 24		ISO	RGD:1317061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 24 | ClinVar Annotator: match by term: RSPH1-related condition	PMID:17576681|PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30609409|PMID:31772028|PMID:31980526|PMID:32253119|PMID:9536098
1307712	Rsph1	radial spoke head component 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307712	Rsph1	radial spoke head component 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307712	Rsph1	radial spoke head component 1	gene	DOID:1324	lung cancer		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307712	Rsph1	radial spoke head component 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307712	Rsph1	radial spoke head component 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:23993197|PMID:28492532
1307712	Rsph1	radial spoke head component 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307712	Rsph1	radial spoke head component 1	gene	DOID:630	genetic disease		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307712	Rsph1	radial spoke head component 1	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1317061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME	PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30609409|PMID:31772028|PMID:31980526|PMID:32253119
1307712	Rsph1	radial spoke head component 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307712	Rsph1	radial spoke head component 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307712	Rsph1	radial spoke head component 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1317061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30609409|PMID:31772028|PMID:31980526|PMID:32253119|PMID:9536098
1307712	Rsph1	radial spoke head component 1	gene	DOID:9563	bronchiectasis		ISO	RGD:1317061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30609409|PMID:31772028|PMID:31980526|PMID:32253119
1307713	Naa20	N(alpha)-acetyltransferase 20, NatB catalytic subunit	gene	DOID:0081233	autosomal recessive intellectual developmental disorder 73		ISO	RGD:1317063	D	RGD:7240710	20220323	OMIM			
1307713	Naa20	N(alpha)-acetyltransferase 20, NatB catalytic subunit	gene	DOID:0081233	autosomal recessive intellectual developmental disorder 73		ISO	RGD:1317063	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 73	PMID:25741868
1307713	Naa20	N(alpha)-acetyltransferase 20, NatB catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1317063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307713	Naa20	N(alpha)-acetyltransferase 20, NatB catalytic subunit	gene	DOID:3275	thymoma		ISO	RGD:1317063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307713	Naa20	N(alpha)-acetyltransferase 20, NatB catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307713	Naa20	N(alpha)-acetyltransferase 20, NatB catalytic subunit	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317065	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0050669	spastic cerebral palsy		ISO	RGD:1317065	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: spastic cerebral palsy	PMID:25741868
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1317065	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0060058	lymphoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0081360	spastic quadriplegic cerebral palsy 2		ISO	RGD:1317065	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0081360	spastic quadriplegic cerebral palsy 2		ISO	RGD:1317065	D	RGD:7240710	20130221	OMIM			
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0081360	spastic quadriplegic cerebral palsy 2		ISO	RGD:1317065	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2 | ClinVar Annotator: match by term: KANK1- Related Disorder | ClinVar Annotator: match by term: KANK1-related condition	PMID:16301218|PMID:25741868|PMID:28492532
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:0081360	spastic quadriplegic cerebral palsy 2		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2 | ClinVar Annotator: match by term: KANK1-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317065	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:28492532
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317065	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:13580	cholestasis		ISO	RGD:1317065	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:3070	high grade glioma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317065	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1317065	D	RGD:2315654|PMID:12133830	20100107	RGD		DNA, mRNA, protein:hypermethylation, decreased expression:kidney	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317065	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:5419	schizophrenia		ISO	RGD:1317065	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1317065	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317065	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:28492532
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317065	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1307714	Kank1	KN motif and ankyrin repeat domains 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1317065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307716	Tbx6	T-box transcription factor 6	gene	DOID:0060249	scoliosis		ISO	RGD:1317068	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: scoliosis	PMID:25564734|PMID:25741868|PMID:28054739|PMID:28492532|PMID:31015262|PMID:31471994|PMID:36112137
1307716	Tbx6	T-box transcription factor 6	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1317068	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30578417
1307716	Tbx6	T-box transcription factor 6	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1317068	D	RGD:7240710	20140226	OMIM			
1307716	Tbx6	T-box transcription factor 6	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1317068	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPONDYLOCOSTAL DYSOSTOSIS 5 | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 | ClinVar Annotator: match by term: TBX6-related condition	PMID:16199547|PMID:23335591|PMID:25564734|PMID:25741868|PMID:28492532|PMID:30636772|PMID:31015262
1307716	Tbx6	T-box transcription factor 6	gene	DOID:0112363	spondylocostal dysostosis 5		ISS	RGD:1317069	D	RGD:13592920	20260514	MouseDO		OMIM:122600	
1307716	Tbx6	T-box transcription factor 6	gene	DOID:10488	imperforate anus		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:28492532
1307716	Tbx6	T-box transcription factor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1307716	Tbx6	T-box transcription factor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1307716	Tbx6	T-box transcription factor 6	gene	DOID:11162	respiratory failure		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
1307716	Tbx6	T-box transcription factor 6	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317068	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	PMID:28492532
1307716	Tbx6	T-box transcription factor 6	gene	DOID:1324	lung cancer		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1307716	Tbx6	T-box transcription factor 6	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:28492532
1307716	Tbx6	T-box transcription factor 6	gene	DOID:2340	craniosynostosis		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:28492532
1307716	Tbx6	T-box transcription factor 6	gene	DOID:3275	thymoma		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1307716	Tbx6	T-box transcription factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307716	Tbx6	T-box transcription factor 6	gene	DOID:630	genetic disease		ISO	RGD:1317068	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28054739|PMID:28492532|PMID:30636772|PMID:31471994
1307716	Tbx6	T-box transcription factor 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317068	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
1307716	Tbx6	T-box transcription factor 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:28492532
1307716	Tbx6	T-box transcription factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307717	Tnip2	TNFAIP3 interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307717	Tnip2	TNFAIP3 interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1317070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307717	Tnip2	TNFAIP3 interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307717	Tnip2	TNFAIP3 interacting protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307717	Tnip2	TNFAIP3 interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307717	Tnip2	TNFAIP3 interacting protein 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1317070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307718	Cd3g	CD3 gamma subunit of T-cell receptor complex	gene	DOID:0060157	diffuse alopecia areata		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patchy alopecia	PMID:28492532
1307718	Cd3g	CD3 gamma subunit of T-cell receptor complex	gene	DOID:0111973	immunodeficiency 17		ISO	RGD:1317072	D	RGD:7240710	20141015	OMIM			
1307718	Cd3g	CD3 gamma subunit of T-cell receptor complex	gene	DOID:0111973	immunodeficiency 17		ISO	RGD:1317072	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CD3G-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 17	PMID:1635567|PMID:25741868|PMID:28492532|PMID:29653965
1307718	Cd3g	CD3 gamma subunit of T-cell receptor complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307718	Cd3g	CD3 gamma subunit of T-cell receptor complex	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1317072	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:1635567|PMID:17277165|PMID:24910257|PMID:25741868|PMID:28492532|PMID:31921117
1307718	Cd3g	CD3 gamma subunit of T-cell receptor complex	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
1307718	Cd3g	CD3 gamma subunit of T-cell receptor complex	gene	DOID:9002720	Splenomegaly		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:28492532
1307718	Cd3g	CD3 gamma subunit of T-cell receptor complex	gene	DOID:9004150	Lymphadenopathy		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphadenopathy	PMID:28492532
1307718	Cd3g	CD3 gamma subunit of T-cell receptor complex	gene	DOID:9005777	Nevus of Ota		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus of Ota	PMID:28492532
1307718	Cd3g	CD3 gamma subunit of T-cell receptor complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307718	Cd3g	CD3 gamma subunit of T-cell receptor complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307719	Anxa8	annexin A8	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1317074	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:18223320|REF_RGD_ID:2325735
1307719	Anxa8	annexin A8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317074	D	RGD:9068941	20200609	RGD			PMID:19376120|REF_RGD_ID:2325733
1307720	Socs7	suppressor of cytokine signaling 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307720	Socs7	suppressor of cytokine signaling 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307720	Socs7	suppressor of cytokine signaling 7	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1317076	D	RGD:11554173	20221213	CTD		CTD Direct Evidence: marker/mechanism	PMID:30365097
1307720	Socs7	suppressor of cytokine signaling 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307720	Socs7	suppressor of cytokine signaling 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307721	Celf1	CUGBP, Elav-like family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307721	Celf1	CUGBP, Elav-like family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307721	Celf1	CUGBP, Elav-like family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307721	Celf1	CUGBP, Elav-like family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307721	Celf1	CUGBP, Elav-like family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1317078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307721	Celf1	CUGBP, Elav-like family member 1	gene	DOID:1909	melanoma		ISO	RGD:1317078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307721	Celf1	CUGBP, Elav-like family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317078	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307721	Celf1	CUGBP, Elav-like family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317078	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307721	Celf1	CUGBP, Elav-like family member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307721	Celf1	CUGBP, Elav-like family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307721	Celf1	CUGBP, Elav-like family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307721	Celf1	CUGBP, Elav-like family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307721	Celf1	CUGBP, Elav-like family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307721	Celf1	CUGBP, Elav-like family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:0060058	lymphoma		ISO	RGD:1317080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:10534	stomach cancer		ISO	RGD:1317080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:1115	sarcoma		ISO	RGD:1317080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:1909	melanoma		ISO	RGD:1317080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:3070	high grade glioma		ISO	RGD:1317080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:3275	thymoma		ISO	RGD:1317080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:4362	cervical cancer		ISO	RGD:1317080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1317080	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307722	Mfsd12	major facilitator superfamily domain containing 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307723	Kif24	kinesin family member 24	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307723	Kif24	kinesin family member 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307723	Kif24	kinesin family member 24	gene	DOID:0060058	lymphoma		ISO	RGD:1317081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307723	Kif24	kinesin family member 24	gene	DOID:0110087	asphyxiating thoracic dystrophy 3		ISO	RGD:1317081	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3	
1307723	Kif24	kinesin family member 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307723	Kif24	kinesin family member 24	gene	DOID:1909	melanoma		ISO	RGD:1317081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307723	Kif24	kinesin family member 24	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307723	Kif24	kinesin family member 24	gene	DOID:3275	thymoma		ISO	RGD:1317081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307723	Kif24	kinesin family member 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1317081	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307723	Kif24	kinesin family member 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307723	Kif24	kinesin family member 24	gene	DOID:870	neuropathy		ISO	RGD:1317081	D	RGD:8554872	20180724	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:26378787
1307723	Kif24	kinesin family member 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307723	Kif24	kinesin family member 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307723	Kif24	kinesin family member 24	gene	DOID:9256	colorectal cancer		ISO	RGD:1317081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307724	Dsel	dermatan sulfate epimerase-like	gene	DOID:1115	sarcoma		ISO	RGD:1317082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307724	Dsel	dermatan sulfate epimerase-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307724	Dsel	dermatan sulfate epimerase-like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307724	Dsel	dermatan sulfate epimerase-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307724	Dsel	dermatan sulfate epimerase-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307725	Adamts20	ADAM metallopeptidase with thrombospondin type 1 motif, 20	gene	DOID:1324	lung cancer		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307725	Adamts20	ADAM metallopeptidase with thrombospondin type 1 motif, 20	gene	DOID:1909	melanoma		ISO	RGD:1317084	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21559390
1307725	Adamts20	ADAM metallopeptidase with thrombospondin type 1 motif, 20	gene	DOID:1909	melanoma		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307725	Adamts20	ADAM metallopeptidase with thrombospondin type 1 motif, 20	gene	DOID:3070	high grade glioma		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307725	Adamts20	ADAM metallopeptidase with thrombospondin type 1 motif, 20	gene	DOID:3275	thymoma		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307725	Adamts20	ADAM metallopeptidase with thrombospondin type 1 motif, 20	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307725	Adamts20	ADAM metallopeptidase with thrombospondin type 1 motif, 20	gene	DOID:4362	cervical cancer		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307725	Adamts20	ADAM metallopeptidase with thrombospondin type 1 motif, 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307725	Adamts20	ADAM metallopeptidase with thrombospondin type 1 motif, 20	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307725	Adamts20	ADAM metallopeptidase with thrombospondin type 1 motif, 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307725	Adamts20	ADAM metallopeptidase with thrombospondin type 1 motif, 20	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307725	Adamts20	ADAM metallopeptidase with thrombospondin type 1 motif, 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307725	Adamts20	ADAM metallopeptidase with thrombospondin type 1 motif, 20	gene	DOID:9296	cleft lip		ISO	RGD:12133751	D	RGD:9068941	20230511	OMIA		Cleft lip with or without cleft palate, ADAMTS20-related	PMID:13875838|PMID:25798845|PMID:28738009|PMID:28887848|PMID:34838248
1307726	Tspyl1	TSPY-like 1	gene	DOID:0080600	COVID-19		ISO	RGD:1348944	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307726	Tspyl1	TSPY-like 1	gene	DOID:14447	gonadal dysgenesis		ISO	RGD:1348944	D	RGD:1599672|PMID:15273283	20070212	RGD		sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800	
1307726	Tspyl1	TSPY-like 1	gene	DOID:9000938	Sudden Infant Death with Dysgenesis of the Testes Syndrome		ISO	RGD:1348944	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307726	Tspyl1	TSPY-like 1	gene	DOID:9000938	Sudden Infant Death with Dysgenesis of the Testes Syndrome		ISO	RGD:1348944	D	RGD:7240710	20130221	OMIM			
1307726	Tspyl1	TSPY-like 1	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:1348944	D	RGD:1599672|PMID:15273283	20070212	RGD		sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800	
1307728	Sntb1	syntrophin, beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307728	Sntb1	syntrophin, beta 1	gene	DOID:1115	sarcoma		ISO	RGD:1317088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307728	Sntb1	syntrophin, beta 1	gene	DOID:3275	thymoma		ISO	RGD:1317088	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307728	Sntb1	syntrophin, beta 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307728	Sntb1	syntrophin, beta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317088	D	RGD:8554872	20170808	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:28595731
1307728	Sntb1	syntrophin, beta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307728	Sntb1	syntrophin, beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307728	Sntb1	syntrophin, beta 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307729	Zc3h13	zinc finger CCCH type containing 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307729	Zc3h13	zinc finger CCCH type containing 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307729	Zc3h13	zinc finger CCCH type containing 13	gene	DOID:3275	thymoma		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307729	Zc3h13	zinc finger CCCH type containing 13	gene	DOID:4362	cervical cancer		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307729	Zc3h13	zinc finger CCCH type containing 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307729	Zc3h13	zinc finger CCCH type containing 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307729	Zc3h13	zinc finger CCCH type containing 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307729	Zc3h13	zinc finger CCCH type containing 13	gene	DOID:9002189	High Myopia		ISO	RGD:1317090	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1307729	Zc3h13	zinc finger CCCH type containing 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317090	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307729	Zc3h13	zinc finger CCCH type containing 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307730	Nfe2l3	NFE2 like bZIP transcription factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1317092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307730	Nfe2l3	NFE2 like bZIP transcription factor 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1317092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307730	Nfe2l3	NFE2 like bZIP transcription factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307730	Nfe2l3	NFE2 like bZIP transcription factor 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317092	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1307730	Nfe2l3	NFE2 like bZIP transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307730	Nfe2l3	NFE2 like bZIP transcription factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307731	Dnajc11	DnaJ heat shock protein family (Hsp40) member C11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307731	Dnajc11	DnaJ heat shock protein family (Hsp40) member C11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307731	Dnajc11	DnaJ heat shock protein family (Hsp40) member C11	gene	DOID:10534	stomach cancer		ISO	RGD:1317094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307731	Dnajc11	DnaJ heat shock protein family (Hsp40) member C11	gene	DOID:1324	lung cancer		ISO	RGD:1317094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307731	Dnajc11	DnaJ heat shock protein family (Hsp40) member C11	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307731	Dnajc11	DnaJ heat shock protein family (Hsp40) member C11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307731	Dnajc11	DnaJ heat shock protein family (Hsp40) member C11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307731	Dnajc11	DnaJ heat shock protein family (Hsp40) member C11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307731	Dnajc11	DnaJ heat shock protein family (Hsp40) member C11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307732	Recql4	RecQ like helicase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307732	Recql4	RecQ like helicase 4	gene	DOID:0050562	West syndrome		ISO	RGD:1317096	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia	PMID:12734318|PMID:12952869|PMID:18716613|PMID:25741868|PMID:27247962|PMID:28492532
1307732	Recql4	RecQ like helicase 4	gene	DOID:0050654	Baller-Gerold syndrome		ISO	RGD:1317096	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307732	Recql4	RecQ like helicase 4	gene	DOID:0050654	Baller-Gerold syndrome		ISO	RGD:1317096	D	RGD:7240710	20130221	OMIM			
1307732	Recql4	RecQ like helicase 4	gene	DOID:0050654	Baller-Gerold syndrome		ISO	RGD:1317096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Baller-Gerold syndrome | ClinVar Annotator: match by term: Craniosynostosis with radial defects	PMID:10319867|PMID:10678659|PMID:12734318|PMID:12952869|PMID:15221963|PMID:15897384|PMID:15964893|PMID:16199547|PMID:16630167|PMID:17372760|PMID:17576681|PMID:18504617|PMID:18616953|PMID:18716613|PMID:19291770|PMID:20301415|PMID:20503338|PMID:21418107|PMID:22730300|PMID:22885111|PMID:23238538|PMID:23899764|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25640679|PMID:25741868|PMID:26491355|PMID:26556299|PMID:27247962|PMID:27352193|PMID:27498913|PMID:28039508|PMID:28076423|PMID:28358413|PMID:28486640|PMID:28492532|PMID:28653661|PMID:28724667|PMID:28767289|PMID:28825054|PMID:28873162|PMID:29168297|PMID:29462647|PMID:29478780|PMID:29506128|PMID:29565416|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30007837|PMID:30086788|PMID:30262796|PMID:30306255|PMID:30651579|PMID:30724488|PMID:30995915|PMID:31406625|PMID:31502745|PMID:31604778|PMID:31829210|PMID:31874108|PMID:32191290|PMID:32482547|PMID:32659497|PMID:32659967|PMID:32729250|PMID:33046774|PMID:33077847|PMID:33144682|PMID:33294214|PMID:33606809|PMID:33999380|PMID:34006472|PMID:34155702|PMID:34308366|PMID:34869606|PMID:35489969|PMID:35534704|PMID:38021400|PMID:38348036|PMID:39315607|PMID:40031098|PMID:9536098
1307732	Recql4	RecQ like helicase 4	gene	DOID:0050654	Baller-Gerold syndrome		ISS	RGD:1317097	D	RGD:13592920	20260122	MouseDO		OMIM:218600	
1307732	Recql4	RecQ like helicase 4	gene	DOID:0050774	rapadilino syndrome		ISO	RGD:1317096	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307732	Recql4	RecQ like helicase 4	gene	DOID:0050774	rapadilino syndrome		ISO	RGD:1317096	D	RGD:7240710	20130221	OMIM			
1307732	Recql4	RecQ like helicase 4	gene	DOID:0050774	rapadilino syndrome		ISO	RGD:1317096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RAPADILINO SYNDROME | ClinVar Annotator: match by term: Rapadilino syndrome	PMID:10319867|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15221963|PMID:16199547|PMID:17250975|PMID:17576681|PMID:18716613|PMID:19291770|PMID:21418107|PMID:22885111|PMID:23238538|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:25966250|PMID:26491355|PMID:27247962|PMID:28486640|PMID:28492532|PMID:28767289|PMID:29478780|PMID:29625052|PMID:29642415|PMID:30306255|PMID:31604778|PMID:31874108|PMID:32191290|PMID:32482547|PMID:32659497|PMID:32659967|PMID:33077847|PMID:33144682|PMID:33294214|PMID:33606809|PMID:34869606|PMID:39315607|PMID:9536098
1307732	Recql4	RecQ like helicase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317096	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532|PMID:30651579
1307732	Recql4	RecQ like helicase 4	gene	DOID:0060058	lymphoma		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30306255|PMID:32659967|PMID:33606809|PMID:9536098
1307732	Recql4	RecQ like helicase 4	gene	DOID:10488	imperforate anus		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	
1307732	Recql4	RecQ like helicase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307732	Recql4	RecQ like helicase 4	gene	DOID:1115	sarcoma		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30086788|PMID:30306255|PMID:32659967|PMID:33606809|PMID:9536098
1307732	Recql4	RecQ like helicase 4	gene	DOID:11836	clubfoot		ISO	RGD:1317096	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:12734318|PMID:12952869|PMID:18716613|PMID:25741868|PMID:27247962|PMID:28492532
1307732	Recql4	RecQ like helicase 4	gene	DOID:1324	lung cancer		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30306255|PMID:32659967|PMID:33606809|PMID:9536098
1307732	Recql4	RecQ like helicase 4	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	
1307732	Recql4	RecQ like helicase 4	gene	DOID:1612	breast cancer		ISO	RGD:1317096	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Cancer breast	PMID:25741868|PMID:28492532
1307732	Recql4	RecQ like helicase 4	gene	DOID:1682	congenital heart disease		ISO	RGD:1317096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:12734318|PMID:12952869|PMID:18716613|PMID:25741868|PMID:28492532
1307732	Recql4	RecQ like helicase 4	gene	DOID:1826	epilepsy		ISO	RGD:1317096	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:12734318|PMID:12952869|PMID:18716613|PMID:25741868|PMID:27247962|PMID:28492532
1307732	Recql4	RecQ like helicase 4	gene	DOID:1907	malignant fibrous histiocytoma		ISO	RGD:1317096	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Undifferentiated Pleomorphic Sarcoma	PMID:12734318|PMID:12952869|PMID:25741868|PMID:28492532|PMID:31604778
1307732	Recql4	RecQ like helicase 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:15221963|PMID:25741868|PMID:26491355|PMID:28492532
1307732	Recql4	RecQ like helicase 4	gene	DOID:2732	Rothmund-Thomson syndrome		ISO	RGD:1317096	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18616953
1307732	Recql4	RecQ like helicase 4	gene	DOID:2732	Rothmund-Thomson syndrome		ISO	RGD:1317096	D	RGD:1599421|PMID:10678659	20070201	RGD			
1307732	Recql4	RecQ like helicase 4	gene	DOID:2732	Rothmund-Thomson syndrome		ISO	RGD:1317096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Poikiloderma of Rothmund-Thomson | ClinVar Annotator: match by term: Rothmund-Thomson syndrome	PMID:10319867|PMID:12734318|PMID:12952869|PMID:15221963|PMID:17250521|PMID:17576681|PMID:18716613|PMID:21418107|PMID:24033266|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:26491355|PMID:27247962|PMID:28492532|PMID:28767289|PMID:30306255|PMID:32659497|PMID:32659967|PMID:33606809|PMID:9536098
1307732	Recql4	RecQ like helicase 4	gene	DOID:2732	Rothmund-Thomson syndrome		ISS	RGD:1317097	D	RGD:13592920	20230718	MouseDO		OMIM:268400	
1307732	Recql4	RecQ like helicase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307732	Recql4	RecQ like helicase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307732	Recql4	RecQ like helicase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30306255|PMID:32659967|PMID:33606809|PMID:9536098
1307732	Recql4	RecQ like helicase 4	gene	DOID:4586	familial meningioma		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial meningioma	PMID:25741868
1307732	Recql4	RecQ like helicase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1317096	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30306255|PMID:32659967|PMID:33606809|PMID:9536098
1307732	Recql4	RecQ like helicase 4	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307732	Recql4	RecQ like helicase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307732	Recql4	RecQ like helicase 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30306255|PMID:32659967|PMID:33606809|PMID:9536098
1307732	Recql4	RecQ like helicase 4	gene	DOID:630	genetic disease		ISO	RGD:1317096	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10319867|PMID:12734318|PMID:12952869|PMID:18716613|PMID:19291770|PMID:21418107|PMID:24518840|PMID:24635570|PMID:25120469|PMID:25741868|PMID:27247962|PMID:28486640|PMID:28492532|PMID:29478780|PMID:29625052|PMID:30651579|PMID:32482547|PMID:33077847|PMID:33294214
1307732	Recql4	RecQ like helicase 4	gene	DOID:630	genetic disease		ISO	RGD:1317096	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10319867|PMID:12734318|PMID:12952869|PMID:18716613|PMID:21418107|PMID:24635570|PMID:25120469|PMID:25741868|PMID:27247962|PMID:28492532|PMID:30651579
1307732	Recql4	RecQ like helicase 4	gene	DOID:630	genetic disease		ISO	RGD:1317096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10319867|PMID:12734318|PMID:12952869|PMID:18716613|PMID:19291770|PMID:21418107|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:27247962|PMID:28486640|PMID:28492532|PMID:28767289|PMID:29478780|PMID:29625052|PMID:30306255|PMID:30651579|PMID:32482547|PMID:32659497|PMID:33077847|PMID:33294214
1307732	Recql4	RecQ like helicase 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30306255|PMID:32659967|PMID:33606809|PMID:9536098
1307732	Recql4	RecQ like helicase 4	gene	DOID:674	cleft palate		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1307732	Recql4	RecQ like helicase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307732	Recql4	RecQ like helicase 4	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1317096	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:12734318|PMID:12952869|PMID:18716613|PMID:25741868|PMID:27247962|PMID:28492532
1307732	Recql4	RecQ like helicase 4	gene	DOID:9000343	Vision Disorders		ISO	RGD:1317096	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:12734318|PMID:12952869|PMID:18716613|PMID:25741868|PMID:27247962|PMID:28492532
1307732	Recql4	RecQ like helicase 4	gene	DOID:9003507	Premature Birth		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:34341987
1307732	Recql4	RecQ like helicase 4	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307732	Recql4	RecQ like helicase 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1317096	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:12734318|PMID:12952869|PMID:18716613|PMID:25741868|PMID:27247962|PMID:28492532
1307732	Recql4	RecQ like helicase 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317096	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:12734318|PMID:12952869|PMID:18716613|PMID:25741868|PMID:27247962|PMID:28492532
1307732	Recql4	RecQ like helicase 4	gene	DOID:9005992	Rothmund-Thomson Syndrome Type 2		ISO	RGD:1317096	D	RGD:7240710	20191023	OMIM			
1307732	Recql4	RecQ like helicase 4	gene	DOID:9005992	Rothmund-Thomson Syndrome Type 2		ISO	RGD:1317096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ROTHMUND-THOMSON SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2	PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15221963|PMID:15897384|PMID:15964893|PMID:16199547|PMID:17576681|PMID:18716613|PMID:19291770|PMID:20503338|PMID:21143835|PMID:21418107|PMID:23899764|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:25966250|PMID:26491355|PMID:27247962|PMID:28039508|PMID:28486640|PMID:28492532|PMID:28767289|PMID:28873162|PMID:29168297|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30086788|PMID:30306255|PMID:30651579|PMID:30724488|PMID:31604778|PMID:31874108|PMID:32191290|PMID:32482547|PMID:32659497|PMID:32659967|PMID:33077847|PMID:33144682|PMID:33294214|PMID:33606809|PMID:34341987|PMID:34869606|PMID:39315607|PMID:9536098
1307732	Recql4	RecQ like helicase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307732	Recql4	RecQ like helicase 4	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1317096	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10319867|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15221963|PMID:15964893|PMID:16199547|PMID:17576681|PMID:18716613|PMID:19291770|PMID:21418107|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:26491355|PMID:27247962|PMID:27425854|PMID:28202063|PMID:28486640|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28873162|PMID:29367366|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30007837|PMID:30306255|PMID:30680959|PMID:30724488|PMID:31829210|PMID:31874108|PMID:32139749|PMID:32191290|PMID:32482547|PMID:32659497|PMID:32659967|PMID:32729250|PMID:33077847|PMID:33294214|PMID:33606809|PMID:33674555|PMID:33999380|PMID:34869606|PMID:9536098|PMID:9878247
1307732	Recql4	RecQ like helicase 4	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1317096	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10319867|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15221963|PMID:15964893|PMID:16199547|PMID:17576681|PMID:18716613|PMID:19291770|PMID:21418107|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:26491355|PMID:27247962|PMID:27425854|PMID:28202063|PMID:28486640|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28873162|PMID:29367366|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30007837|PMID:30306255|PMID:30680959|PMID:30724488|PMID:31829210|PMID:31874108|PMID:32139749|PMID:32191290|PMID:32482547|PMID:32659497|PMID:32659967|PMID:32729250|PMID:33057194|PMID:33077847|PMID:33294214|PMID:33606809|PMID:33674555|PMID:33999380|PMID:34869606|PMID:9536098|PMID:9878247
1307732	Recql4	RecQ like helicase 4	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1317096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10319867|PMID:12734318|PMID:12952869|PMID:15221963|PMID:15964893|PMID:16199547|PMID:17576681|PMID:18716613|PMID:19291770|PMID:21418107|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:26491355|PMID:27247962|PMID:28486640|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28873162|PMID:29478780|PMID:29625052|PMID:29641532|PMID:30306255|PMID:30724488|PMID:31874108|PMID:32191290|PMID:32482547|PMID:32659497|PMID:32659967|PMID:33077847|PMID:33294214|PMID:33606809|PMID:33999380|PMID:34869606|PMID:9536098
1307732	Recql4	RecQ like helicase 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:34341987
1307732	Recql4	RecQ like helicase 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317096	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12734318|PMID:12952869|PMID:18716613|PMID:25741868|PMID:27247962|PMID:28492532
1307732	Recql4	RecQ like helicase 4	gene	DOID:9008840	DNA Repair-Deficiency Disorders		ISO	RGD:1317097	D	RGD:13207506|PMID:25859855	20170803	RGD			
1307732	Recql4	RecQ like helicase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307732	Recql4	RecQ like helicase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30306255|PMID:32659967|PMID:33606809|PMID:9536098
1307732	Recql4	RecQ like helicase 4	gene	DOID:936	brain disease		ISO	RGD:1317096	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:12734318|PMID:12952869|PMID:18716613|PMID:25741868|PMID:27247962|PMID:28492532
1307732	Recql4	RecQ like helicase 4	gene	DOID:9538	multiple myeloma		ISO	RGD:1317096	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	PMID:28492532
1307733	Lgr5	leucine rich repeat containing G protein coupled receptor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307733	Lgr5	leucine rich repeat containing G protein coupled receptor 5	gene	DOID:0060604	ankyloglossia		ISS	RGD:1550798	D	RGD:13592920	20180518	MouseDO		OMIM:106280	
1307733	Lgr5	leucine rich repeat containing G protein coupled receptor 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307733	Lgr5	leucine rich repeat containing G protein coupled receptor 5	gene	DOID:1115	sarcoma		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307733	Lgr5	leucine rich repeat containing G protein coupled receptor 5	gene	DOID:1324	lung cancer		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307733	Lgr5	leucine rich repeat containing G protein coupled receptor 5	gene	DOID:1909	melanoma		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307733	Lgr5	leucine rich repeat containing G protein coupled receptor 5	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1605118	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1307733	Lgr5	leucine rich repeat containing G protein coupled receptor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307733	Lgr5	leucine rich repeat containing G protein coupled receptor 5	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1605118	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21188121
1307733	Lgr5	leucine rich repeat containing G protein coupled receptor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307733	Lgr5	leucine rich repeat containing G protein coupled receptor 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1605118	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25280562
1307733	Lgr5	leucine rich repeat containing G protein coupled receptor 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1307734	Tbx1	T-box transcription factor 1	gene	DOID:0050847	sleep apnea		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1317101	D	RGD:13592920	20190516	MouseDO			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:0110917	hereditary spherocytosis type 2		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spherocytosis type 2	PMID:14526392|PMID:18414210|PMID:18707033|PMID:19254783|PMID:25217958|PMID:25741868
1307734	Tbx1	T-box transcription factor 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317100	D	RGD:155641234|PMID:32110744	20221102	RGD		DNA:frameshift mutation:CDS:p.G387AfsX73 (human)	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317100	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:10754	otitis media		ISS	RGD:1317101	D	RGD:13592920	20180518	MouseDO		OMIM:166760	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:11193	syndactyly		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1317100	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15190012|PMID:16399080|PMID:17000704
1307734	Tbx1	T-box transcription factor 1	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1317100	D	RGD:7240710	20140806	OMIM			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1317100	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome	PMID:11239417|PMID:11242049|PMID:11748311|PMID:14585638|PMID:15060116|PMID:15355425|PMID:15703190|PMID:16199547|PMID:17273972|PMID:17576681|PMID:18375573|PMID:19948535|PMID:20937753|PMID:21921585|PMID:24033266|PMID:24637876|PMID:24826987|PMID:24998776|PMID:25205790|PMID:25516202|PMID:25741868|PMID:25860641|PMID:26467025|PMID:26805781|PMID:26805782|PMID:27879657|PMID:28272434|PMID:28492532|PMID:28798025|PMID:29250159|PMID:29500247|PMID:30007050|PMID:30245509|PMID:30773290|PMID:31690835|PMID:32045288|PMID:32110744|PMID:32185379|PMID:32581362|PMID:33995479|PMID:34374102|PMID:9536098
1307734	Tbx1	T-box transcription factor 1	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1317100	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome	PMID:11239417|PMID:11242049|PMID:11748311|PMID:14585638|PMID:15060116|PMID:15355425|PMID:15703190|PMID:16199547|PMID:17273972|PMID:17576681|PMID:18375573|PMID:19948535|PMID:20937753|PMID:21921585|PMID:24033266|PMID:24637876|PMID:24826987|PMID:24998776|PMID:25205790|PMID:25516202|PMID:25640679|PMID:25741868|PMID:25860641|PMID:26467025|PMID:26805781|PMID:26805782|PMID:27879657|PMID:28272434|PMID:28492532|PMID:28798025|PMID:29250159|PMID:29500247|PMID:30007050|PMID:30245509|PMID:30773290|PMID:31690835|PMID:32045288|PMID:32110744|PMID:32185379|PMID:32581362|PMID:33995479|PMID:34374102|PMID:9536098
1307734	Tbx1	T-box transcription factor 1	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Third and fourth pharyngeal pouch syndrome	PMID:11239417|PMID:11242049|PMID:11748311|PMID:14585638|PMID:15060116|PMID:15703190|PMID:16199547|PMID:17273972|PMID:17576681|PMID:19948535|PMID:20453311|PMID:20937753|PMID:24033266|PMID:24637876|PMID:24826987|PMID:24998776|PMID:25205790|PMID:25516202|PMID:25640679|PMID:25741868|PMID:25860641|PMID:26467025|PMID:27626068|PMID:27879657|PMID:28252636|PMID:28492532|PMID:28798025|PMID:29250159|PMID:29500247|PMID:29915097|PMID:30007050|PMID:30137364|PMID:30487145|PMID:30773290|PMID:31428446|PMID:32045288|PMID:32110744|PMID:32185379|PMID:33057194|PMID:34374102|PMID:35982159|PMID:37432431|PMID:9536098
1307734	Tbx1	T-box transcription factor 1	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1317101	D	RGD:155641238|PMID:25197075	20221103	RGD			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1317101	D	RGD:1578374|PMID:11242110	20221103	RGD			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1317101	D	RGD:9590333|PMID:22921202	20221108	RGD			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:11198	DiGeorge syndrome		ISS	RGD:1317101	D	RGD:13592920	20230718	MouseDO		OMIM:188400	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:11199	hypoparathyroidism		ISO	RGD:1317100	D	RGD:155641234|PMID:32110744	20221102	RGD		DNA:frameshift mutation:CDS:p.G387AfsX73 (human)	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:1148	polydactyly		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1317100	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1307734	Tbx1	T-box transcription factor 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
1307734	Tbx1	T-box transcription factor 1	gene	DOID:12270	coloboma		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:12583	velocardiofacial syndrome		ISO	RGD:1317100	D	RGD:155641243|PMID:15190012	20221103	RGD			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:12583	velocardiofacial syndrome		ISO	RGD:1317100	D	RGD:7240710	20180418	OMIM			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:12583	velocardiofacial syndrome		ISO	RGD:1317100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: VELOCARDIOFACIAL SYNDROME | ClinVar Annotator: match by term: Velocardiofacial syndrome	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307734	Tbx1	T-box transcription factor 1	gene	DOID:12583	velocardiofacial syndrome		ISS	RGD:1317101	D	RGD:13592920	20230718	MouseDO		OMIM:192430	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:12849	autistic disorder		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:16199547|PMID:25741868|PMID:25860641|PMID:28492532|PMID:29500247
1307734	Tbx1	T-box transcription factor 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1317101	D	RGD:155641242|PMID:25209980	20221103	RGD			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:14780	KBG syndrome		ISO	RGD:1317100	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: KBG syndrome	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1317100	D	RGD:155631302|PMID:22801995	20221031	RGD		DNA:SNP:promoter:g.4199C>T (human)	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1317100	D	RGD:11342394|PMID:25860641	20221103	RGD		DNA:nonsense mutation:CDS:p.Q277X (human)	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1317100	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17000704
1307734	Tbx1	T-box transcription factor 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1317100	D	RGD:155631308|PMID:29568912	20221101	RGD		mRNA, protein:decreased expression:blood (human)	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1317100	D	RGD:155663346|PMID:29596833	20221109	RGD		DNA:missense mutation:CDS:p.P190Q (human)	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1317100	D	RGD:155663347|PMID:22185286	20221109	RGD		DNA:SNPs:intron 1: (rs5748417, rs5748418) (human)	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1317100	D	RGD:155641234|PMID:32110744	20221102	RGD		DNA:frameshift mutation:CDS:p.G387AfsX73 (human)	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:26467025|PMID:28252636|PMID:28492532|PMID:30773290
1307734	Tbx1	T-box transcription factor 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1307734	Tbx1	T-box transcription factor 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1317100	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1307734	Tbx1	T-box transcription factor 1	gene	DOID:2841	asthma		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1307734	Tbx1	T-box transcription factor 1	gene	DOID:3021	acute kidney failure		IEP		D	RGD:155882498|PMID:24817956	20230125	RGD		mRNA:increased expression:kidney (rat)	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317100	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532|PMID:34374102
1307734	Tbx1	T-box transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:630	genetic disease		ISO	RGD:1317100	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1317100	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25093829
1307734	Tbx1	T-box transcription factor 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1317100	D	RGD:7240710	20140806	OMIM			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:17576681|PMID:19948535|PMID:24998776|PMID:25741868|PMID:28272434|PMID:28492532|PMID:9536098
1307734	Tbx1	T-box transcription factor 1	gene	DOID:674	cleft palate		ISO	RGD:1317101	D	RGD:155631306|PMID:30121012	20221101	RGD			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:674	cleft palate		ISO	RGD:1317101	D	RGD:155641231|PMID:25556186	20221102	RGD			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9001460	22q11 Deletion Syndrome		ISO	RGD:1317101	D	RGD:155663362|PMID:16452092	20221111	RGD			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:1317101	D	RGD:11561941|PMID:21364285	20221101	RGD			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9003483	Conductive Hearing Loss		ISO	RGD:1317101	D	RGD:155663349|PMID:28105375	20221110	RGD		DNA:missense mutation:CDS:p.W118R (mouse)	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9007617	Conotruncal Cardiac Defects		ISO	RGD:1317100	D	RGD:7240710	20180530	OMIM			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9007617	Conotruncal Cardiac Defects		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Conotruncal heart malformations	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9007736	Vertigo		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:25741868|PMID:25860641|PMID:28492532|PMID:29500247
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1317100	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15190012|PMID:17000704
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1317100	D	RGD:155641234|PMID:32110744	20221102	RGD		DNA:frameshift mutation:CDS:p.G387AfsX73 (human)	
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9408	acute myocardial infarction	treatment	IEP		D	RGD:155882497|PMID:27422448	20230125	RGD			
1307734	Tbx1	T-box transcription factor 1	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1317100	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:28492532
1307735	Ankrd55	ankyrin repeat domain 55	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307735	Ankrd55	ankyrin repeat domain 55	gene	DOID:0060058	lymphoma		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307735	Ankrd55	ankyrin repeat domain 55	gene	DOID:10534	stomach cancer		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307735	Ankrd55	ankyrin repeat domain 55	gene	DOID:1909	melanoma		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307735	Ankrd55	ankyrin repeat domain 55	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307735	Ankrd55	ankyrin repeat domain 55	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307735	Ankrd55	ankyrin repeat domain 55	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307735	Ankrd55	ankyrin repeat domain 55	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1605952	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
1307735	Ankrd55	ankyrin repeat domain 55	gene	DOID:9001341	Chloracne		ISO	RGD:1605952	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
1307735	Ankrd55	ankyrin repeat domain 55	gene	DOID:9003566	Mesothelioma		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307735	Ankrd55	ankyrin repeat domain 55	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307736	Mlec	malectin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307736	Mlec	malectin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307736	Mlec	malectin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307736	Mlec	malectin	gene	DOID:3275	thymoma		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307736	Mlec	malectin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307736	Mlec	malectin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307736	Mlec	malectin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307736	Mlec	malectin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307737	Syngr4	synaptogyrin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1317104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307737	Syngr4	synaptogyrin 4	gene	DOID:1909	melanoma		ISO	RGD:1317104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307737	Syngr4	synaptogyrin 4	gene	DOID:3275	thymoma		ISO	RGD:1317104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307737	Syngr4	synaptogyrin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307737	Syngr4	synaptogyrin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307739	Morn5	MORN repeat containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307739	Morn5	MORN repeat containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1317107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307740	Natd1	N-acetyltransferase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1606417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307740	Natd1	N-acetyltransferase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1606417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307741	Scrn2	secernin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307741	Scrn2	secernin 2	gene	DOID:1115	sarcoma		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307741	Scrn2	secernin 2	gene	DOID:1324	lung cancer		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307741	Scrn2	secernin 2	gene	DOID:3275	thymoma		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307741	Scrn2	secernin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307741	Scrn2	secernin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307741	Scrn2	secernin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307741	Scrn2	secernin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307741	Scrn2	secernin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307742	Pappa	pappalysin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307742	Pappa	pappalysin 1	gene	DOID:10763	hypertension		ISO	RGD:1317112	D	RGD:1642331|PMID:12224070	20070912	RGD		associated with Pregnancy Complications, Cardiovascular;protein:decreased expression:serum	
1307742	Pappa	pappalysin 1	gene	DOID:1909	melanoma		ISO	RGD:1317112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307742	Pappa	pappalysin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307742	Pappa	pappalysin 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:1317112	D	RGD:1642326|PMID:16614002	20070912	RGD		protein:increased expression:serum	
1307742	Pappa	pappalysin 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:1317113	D	RGD:1642325|PMID:17510462	20070912	RGD		mRNA:increased expression:aorta	
1307742	Pappa	pappalysin 1	gene	DOID:289	endometriosis		ISO	RGD:1317112	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
1307742	Pappa	pappalysin 1	gene	DOID:3275	thymoma		ISO	RGD:1317112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307742	Pappa	pappalysin 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1317112	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11586954
1307742	Pappa	pappalysin 1	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:1317112	D	RGD:1642327|PMID:16055491	20070912	RGD			
1307742	Pappa	pappalysin 1	gene	DOID:3407	carotid artery disease		ISO	RGD:1317112	D	RGD:1642330|PMID:12524241	20070912	RGD		associated with Hyperlipidemia;protein:increased expression:serum	
1307742	Pappa	pappalysin 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1317112	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11586954
1307742	Pappa	pappalysin 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1317112	D	RGD:1642324|PMID:17700210	20070912	RGD		DNA:polymorphism:intron	
1307742	Pappa	pappalysin 1	gene	DOID:630	genetic disease		ISO	RGD:1317112	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307742	Pappa	pappalysin 1	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:1317112	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11586954
1307742	Pappa	pappalysin 1	gene	DOID:90	degenerative disc disease		ISO	RGD:1317112	D	RGD:10412724|PMID:18552658	20151124	RGD		protein:increased expression:vertebral disc:	
1307742	Pappa	pappalysin 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1317112	D	RGD:1642328|PMID:15531533	20070912	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:serum	
1307742	Pappa	pappalysin 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1317112	D	RGD:1642329|PMID:14661010	20070912	RGD		protein:increased expression:serum	
1307742	Pappa	pappalysin 1	gene	DOID:9000888	Pregnancy in Diabetics		ISO	RGD:1317112	D	RGD:2313777|PMID:9512318	20091014	RGD		associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:serum	
1307742	Pappa	pappalysin 1	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1317112	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11586954
1307742	Pappa	pappalysin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307742	Pappa	pappalysin 1	gene	DOID:9007456	Female Infertility		ISO	RGD:1317112	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20130263
1307742	Pappa	pappalysin 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317112	D	RGD:2313776|PMID:17728480	20091014	RGD		protein:decreased expression:serum	
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:0080105	microcephaly and chorioretinopathy 1		ISO	RGD:1317114	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:0080105	microcephaly and chorioretinopathy 1		ISO	RGD:1317114	D	RGD:7240710	20171011	OMIM			
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:0080105	microcephaly and chorioretinopathy 1		ISO	RGD:1317114	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without mental retardation | ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive | ClinVar Annotator: match by term: TUBGCP6-related condition	PMID:16199547|PMID:25344692|PMID:25741868|PMID:28492532|PMID:31077665|PMID:33458610|PMID:36307859|PMID:37031378|PMID:37229200
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:10534	stomach cancer		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:10907	microcephaly		ISO	RGD:1317114	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:1115	sarcoma		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:1324	lung cancer		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:1909	melanoma		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:4362	cervical cancer		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:5723	optic atrophy		ISO	RGD:1317114	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:630	genetic disease		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27660388|PMID:28492532|PMID:31069529
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317114	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532|PMID:31964843
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:9005077	Joint Instability		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307743	Tubgcp6	tubulin gamma complex component 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1317114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307744	Pik3ap1	phosphoinositide-3-kinase adaptor protein 1	gene	DOID:0050562	West syndrome		ISO	RGD:1317115	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia | ClinVar Annotator: match by term: Infantile spasms	PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:9536098
1307744	Pik3ap1	phosphoinositide-3-kinase adaptor protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1317115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307744	Pik3ap1	phosphoinositide-3-kinase adaptor protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1317115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1307744	Pik3ap1	phosphoinositide-3-kinase adaptor protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1317115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1307744	Pik3ap1	phosphoinositide-3-kinase adaptor protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307744	Pik3ap1	phosphoinositide-3-kinase adaptor protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307744	Pik3ap1	phosphoinositide-3-kinase adaptor protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307744	Pik3ap1	phosphoinositide-3-kinase adaptor protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307744	Pik3ap1	phosphoinositide-3-kinase adaptor protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307744	Pik3ap1	phosphoinositide-3-kinase adaptor protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1307745	Cep131	centrosomal protein 131	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307745	Cep131	centrosomal protein 131	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307745	Cep131	centrosomal protein 131	gene	DOID:10534	stomach cancer		ISO	RGD:1346806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307745	Cep131	centrosomal protein 131	gene	DOID:1115	sarcoma		ISO	RGD:1346806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307745	Cep131	centrosomal protein 131	gene	DOID:1324	lung cancer		ISO	RGD:1346806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307745	Cep131	centrosomal protein 131	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307745	Cep131	centrosomal protein 131	gene	DOID:4362	cervical cancer		ISO	RGD:1346806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307745	Cep131	centrosomal protein 131	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307745	Cep131	centrosomal protein 131	gene	DOID:5041	esophageal cancer		ISO	RGD:1346806	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307745	Cep131	centrosomal protein 131	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307745	Cep131	centrosomal protein 131	gene	DOID:6039	uveal melanoma		ISO	RGD:1346806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307745	Cep131	centrosomal protein 131	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307745	Cep131	centrosomal protein 131	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346806	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307745	Cep131	centrosomal protein 131	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307745	Cep131	centrosomal protein 131	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307745	Cep131	centrosomal protein 131	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307747	Actl6a	actin-like 6A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307747	Actl6a	actin-like 6A	gene	DOID:0050840	cervical dystonia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:28649782
1307747	Actl6a	actin-like 6A	gene	DOID:0060320	inguinal hernia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:28649782
1307747	Actl6a	actin-like 6A	gene	DOID:0060321	umbilical hernia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868|PMID:28649782
1307747	Actl6a	actin-like 6A	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28649782
1307747	Actl6a	actin-like 6A	gene	DOID:0070297	primary microcephaly		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:28649782
1307747	Actl6a	actin-like 6A	gene	DOID:0080833	laryngomalacia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:10534	stomach cancer		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307747	Actl6a	actin-like 6A	gene	DOID:1059	intellectual disability		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28649782
1307747	Actl6a	actin-like 6A	gene	DOID:1059	intellectual disability		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Borderline intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:11111	hydronephrosis		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:1115	sarcoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307747	Actl6a	actin-like 6A	gene	DOID:1205	allergic disease		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:12849	autistic disorder		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:19215055|PMID:25741868|PMID:28649782|PMID:31994175
1307747	Actl6a	actin-like 6A	gene	DOID:12849	autistic disorder		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28649782
1307747	Actl6a	actin-like 6A	gene	DOID:1657	ventricular septal defect		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28649782
1307747	Actl6a	actin-like 6A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28649782
1307747	Actl6a	actin-like 6A	gene	DOID:1909	melanoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307747	Actl6a	actin-like 6A	gene	DOID:2841	asthma		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:535	sleep disorder		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307747	Actl6a	actin-like 6A	gene	DOID:630	genetic disease		ISO	RGD:1603412	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307747	Actl6a	actin-like 6A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307747	Actl6a	actin-like 6A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307747	Actl6a	actin-like 6A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28649782
1307747	Actl6a	actin-like 6A	gene	DOID:9000727	Syncope		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868|PMID:28649782
1307747	Actl6a	actin-like 6A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28649782
1307747	Actl6a	actin-like 6A	gene	DOID:9001722	Dysarthria		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:9004507	Hirsutism		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28649782
1307747	Actl6a	actin-like 6A	gene	DOID:9005077	Joint Instability		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28649782
1307747	Actl6a	actin-like 6A	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exercise intolerance	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307747	Actl6a	actin-like 6A	gene	DOID:9007573	Flatfoot		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:9007921	Spina Bifida Cystica		IEP		D	RGD:9587760|PMID:23677776	20141016	RGD			
1307747	Actl6a	actin-like 6A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:25741868
1307747	Actl6a	actin-like 6A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307747	Actl6a	actin-like 6A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307747	Actl6a	actin-like 6A	gene	DOID:9834	hyperopia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: congenital hypothyroidism	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0060249	scoliosis		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:12464997|PMID:12807965|PMID:15942875|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:27834868|PMID:28492532|PMID:30719864
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0060313	tracheomalacia		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868|PMID:26938784
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:1317121	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1317121	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal cortical dysplasia	PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0110823	hereditary spastic paraplegia 8		ISO	RGD:1317121	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia 8	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0110872	holoprosencephaly 2		ISO	RGD:1317121	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly 2	PMID:25741868|PMID:28492532|PMID:34008892
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0112103	Sotos syndrome 1		ISO	RGD:1317121	D	RGD:7240710	20190320	OMIM			
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:0112103	Sotos syndrome 1		ISO	RGD:1317121	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NSD1-related condition | ClinVar Annotator: match by term: SOTOS SYNDROME 1 | ClinVar Annotator: match by term: Sotos syndrome 1	PMID:11896389|PMID:12464997|PMID:12525543|PMID:12807965|PMID:14517949|PMID:14571271|PMID:14627693|PMID:15452385|PMID:15720303|PMID:15742365|PMID:15942875|PMID:16199547|PMID:16222665|PMID:16232326|PMID:16247291|PMID:17561922|PMID:17565728|PMID:17565729|PMID:17576681|PMID:18001468|PMID:18414213|PMID:19876911|PMID:20018718|PMID:21084978|PMID:21196496|PMID:22924495|PMID:23190751|PMID:23592277|PMID:24088041|PMID:24412544|PMID:25326637|PMID:25533962|PMID:25741868|PMID:25741869|PMID:25852445|PMID:26613968|PMID:26633545|PMID:26690673|PMID:27604501|PMID:27834868|PMID:28475857|PMID:28492532|PMID:29142766|PMID:29264563|PMID:29276005|PMID:30719864|PMID:31147750|PMID:32170002|PMID:32277047|PMID:33942996|PMID:34033256|PMID:34580403|PMID:35032046|PMID:35094088|PMID:35101336|PMID:35253369|PMID:38535015|PMID:9536098
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:21738022|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1317121	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12807965
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:12464997|PMID:14571271|PMID:15452385|PMID:15942875|PMID:16247291|PMID:17565729|PMID:25741868|PMID:26938784|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1317121	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Preeclampsia	PMID:12464997|PMID:12807965|PMID:15942875|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:27834868|PMID:28492532|PMID:30719864
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1317121	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1317121	D	RGD:9590157|PMID:23599694	20141114	RGD		associated with Growth Disorders;DNA:duplications:multiple (human)	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:15452385|PMID:17565729|PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:12642	hiatus hernia		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:15742365|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:27604501|PMID:28492532|PMID:35032046
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1317121	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18001468
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1317121	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Autistic disorder	PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:13317	hyperinsulinemic hypoglycemia		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:14264	benign neonatal seizures		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:14731	Weaver syndrome		ISO	RGD:1317121	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12807965
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:14748	Sotos syndrome		ISO	RGD:1317121	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12807965|PMID:14517949|PMID:14571271|PMID:15452385|PMID:15580547|PMID:15640245|PMID:16188863|PMID:16232326|PMID:17561922|PMID:18001468|PMID:18505455|PMID:20101679|PMID:21972110
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:14748	Sotos syndrome		ISO	RGD:1317121	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEREBRAL GIGANTISM | ClinVar Annotator: match by term: CHROMOSOME 5q35 DELETION SYNDROME | ClinVar Annotator: match by term: SOTOS SYNDROME | ClinVar Annotator: match by term: Sotos syndrome | ClinVar Annotator: match by term: Sotos' syndrome	PMID:11896389|PMID:12464997|PMID:12807965|PMID:14148233|PMID:14517949|PMID:14571271|PMID:14627693|PMID:14997421|PMID:15365454|PMID:15452385|PMID:1552397|PMID:15742365|PMID:15942875|PMID:16199547|PMID:16222665|PMID:16232326|PMID:16247291|PMID:16329110|PMID:17561922|PMID:17565729|PMID:17576681|PMID:17825104|PMID:18001468|PMID:18414213|PMID:20018718|PMID:21196496|PMID:21738022|PMID:21834047|PMID:21972110|PMID:22012791|PMID:22352460|PMID:22924495|PMID:23190751|PMID:24412544|PMID:25304431|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25741869|PMID:26043501|PMID:26257172|PMID:26690673|PMID:26938784|PMID:27604501|PMID:27834868|PMID:28475857|PMID:28492532|PMID:28572261|PMID:29142766|PMID:29264563|PMID:29276005|PMID:29593781|PMID:29758562|PMID:30719864|PMID:31147750|PMID:31475041|PMID:33942996|PMID:34006472|PMID:34008892|PMID:34033256|PMID:34559457|PMID:35032046|PMID:35094088|PMID:36550402|PMID:36833222|PMID:36919607|PMID:37066965|PMID:37989294|PMID:38150933|PMID:38228391|PMID:38684994|PMID:39425694|PMID:40558479|PMID:9536098
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:14748	Sotos syndrome		ISO	RGD:1317121	D	RGD:9590145|PMID:14571271	20141114	RGD		DNA:mutations:multiple (human)	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:28475857|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:12464997|PMID:14571271|PMID:15742365|PMID:15942875|PMID:16247291|PMID:25741868|PMID:27834868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:15742365|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:27604501|PMID:28492532|PMID:35032046
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:1909	melanoma		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemia	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:3086	gingival overgrowth		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	PMID:15452385|PMID:17565729|PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:3144	cutis laxa		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317121	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:4428	dyslexia		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:15452385|PMID:17565729|PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317121	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:5117	dermoid cyst of ovary		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian teratoma	PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:540	strabismus		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:1317121	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome	PMID:12464997|PMID:12807965|PMID:14571271|PMID:15942875|PMID:16232326|PMID:16247291|PMID:17565729|PMID:18414213|PMID:18505455|PMID:21196496|PMID:21597970|PMID:25326637|PMID:25608832|PMID:25741868|PMID:26690673|PMID:26896805|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome	PMID:12464997|PMID:12807965|PMID:14571271|PMID:15942875|PMID:16232326|PMID:16247291|PMID:17565729|PMID:18414213|PMID:18505455|PMID:21196496|PMID:21597970|PMID:25608832|PMID:25741868|PMID:26690673|PMID:26896805|PMID:28492532|PMID:33942996|PMID:35094088
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:5648	choroid plexus carcinoma		ISO	RGD:1317121	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHOROID PLEXUS CARCINOMA	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:630	genetic disease		ISO	RGD:1317121	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11226167|PMID:12464997|PMID:12807965|PMID:14517949|PMID:14571271|PMID:15452385|PMID:15720303|PMID:15742365|PMID:15942875|PMID:16222665|PMID:16232326|PMID:16247291|PMID:17561922|PMID:17565729|PMID:18001468|PMID:18414213|PMID:21196496|PMID:21972110|PMID:22924495|PMID:24412544|PMID:25741868|PMID:25741869|PMID:26690673|PMID:26876097|PMID:27604501|PMID:27834868|PMID:28475857|PMID:28492532|PMID:29142766|PMID:33942996|PMID:35032046|PMID:35094088|PMID:40127276
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:15742365|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:27604501|PMID:28492532|PMID:35032046
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:769	neuroblastoma	severity	ISO	RGD:1317121	D	RGD:9590155|PMID:20018718	20141114	RGD		DNA:hypermethylation:promoter:CpG islands (human)	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:28475857|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:15942875|PMID:16222665|PMID:17565729|PMID:25533962|PMID:28492532|PMID:29276005
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:12464997|PMID:12807965|PMID:15942875|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:27834868|PMID:28492532|PMID:30719864
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9002532	Neonatal Hyperbilirubinemia		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hyperbilirubinemia	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral hemorrhage	PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:28475857|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1317121	D	RGD:8554872	20250318	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:12464997|PMID:12807965|PMID:15942875|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:27834868|PMID:28492532|PMID:30719864
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:15942875|PMID:16222665|PMID:17565729|PMID:25533962|PMID:28492532|PMID:29276005
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:12464997|PMID:12807965|PMID:14571271|PMID:15742365|PMID:15942875|PMID:16247291|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:26938784|PMID:27604501|PMID:27834868|PMID:28475857|PMID:28492532|PMID:30719864|PMID:35032046
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:15942875|PMID:16222665|PMID:17565729|PMID:25533962|PMID:28492532|PMID:29276005
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1614441	D	RGD:9590156|PMID:22832494	20141114	RGD			
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:15942875|PMID:16222665|PMID:17565729|PMID:25533962|PMID:28492532|PMID:29276005
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9004657	Weight Gain		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight gain	PMID:12464997|PMID:12807965|PMID:15942875|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:27834868|PMID:28492532|PMID:30719864
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:15452385|PMID:17565729|PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:18414213|PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:18414213|PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9006084	Gigantism		ISO	RGD:1317121	D	RGD:11568154|PMID:16222665	20161219	RGD		DNA:missense mutation:cds:6605G>A(p.C2202Y)(human)	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1317121	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:17565729|PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:15452385|PMID:17565729|PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9007892	Tics		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	PMID:15452385|PMID:17565729|PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex febrile seizure	PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:28475857|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:12464997|PMID:12807965|PMID:14571271|PMID:15452385|PMID:15742365|PMID:15942875|PMID:16247291|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:27834868|PMID:28475857|PMID:28492532|PMID:30719864
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9008385	Vomiting		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:28475857|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1317121	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:25741868
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:17565729|PMID:23190751|PMID:25741868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9119	acute myeloid leukemia	severity	ISO	RGD:1317121	D	RGD:9590149|PMID:23630019	20141114	RGD		DNA:translocations:multiple (human)	
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: Pendular nystagmus	PMID:12464997|PMID:14571271|PMID:15742365|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:27834868|PMID:28492532
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9834	hyperopia		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:15942875|PMID:16222665|PMID:17565729|PMID:25533962|PMID:28492532|PMID:29276005
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9970	obesity		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:15942875|PMID:16222665|PMID:17565729|PMID:25533962|PMID:25741868|PMID:26938784|PMID:28492532|PMID:29276005
1307748	Nsd1	nuclear receptor binding SET domain protein 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1317121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
1307749	Exoc3l4	exocyst complex component 3-like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307749	Exoc3l4	exocyst complex component 3-like 4	gene	DOID:1324	lung cancer		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307749	Exoc3l4	exocyst complex component 3-like 4	gene	DOID:1909	melanoma		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307749	Exoc3l4	exocyst complex component 3-like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307749	Exoc3l4	exocyst complex component 3-like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307749	Exoc3l4	exocyst complex component 3-like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307750	Nedd1	NEDD1 gamma-tubulin ring complex targeting factor	gene	DOID:1324	lung cancer		ISO	RGD:1317123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307750	Nedd1	NEDD1 gamma-tubulin ring complex targeting factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307750	Nedd1	NEDD1 gamma-tubulin ring complex targeting factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307750	Nedd1	NEDD1 gamma-tubulin ring complex targeting factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1317123	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307750	Nedd1	NEDD1 gamma-tubulin ring complex targeting factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307750	Nedd1	NEDD1 gamma-tubulin ring complex targeting factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307750	Nedd1	NEDD1 gamma-tubulin ring complex targeting factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307750	Nedd1	NEDD1 gamma-tubulin ring complex targeting factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:0014667	disease of metabolism		ISO	RGD:730973	D	RGD:1581420|PMID:10600799	20090609	RGD		mRNA, protein:increased expression:liver	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular nodular heterotopia	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	IEP		D	RGD:617183686|PMID:24814604	20250710	RGD			
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:0080087	nonsyndromic congenital nail disorder 9		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nail dysplasia	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:10211	cholelithiasis		ISO	RGD:730973	D	RGD:1581417|PMID:15062879	19990101	RGD			
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:10283	prostate cancer		ISO	RGD:730972	D	RGD:9068941	20220825	RGD			PMID:15026365|REF_RGD_ID:1581413
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:730972	D	RGD:1581413|PMID:15026365	20091217	RGD			
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:10908	hydrocephalus		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:1115	sarcoma	treatment	ISO	RGD:730972	D	RGD:151660332|PMID:31089155	20220303	RGD			
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:11155	hypohidrosis		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:1324	lung cancer		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:1574	alcohol use disorder		IEP		D	RGD:616363157|PMID:30618609	20250616	RGD		mRNA:decreased expression:nucleus accumbens, mesencephalon (rat)	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:1826	epilepsy		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:1909	melanoma		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:730973	D	RGD:401842363|PMID:23650230	20231016	RGD			
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:2527	nephrosis		IEP		D	RGD:2307223|PMID:19147991	20090609	RGD		protein:altered localization:nucleus	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:3393	coronary artery disease	disease_progression	ISO	RGD:730972	D	RGD:401842368|PMID:28367087	20231016	RGD		associated with type 2 diabetes mellitus;mRNA:increased expression:epicardial fat (human)	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:3407	carotid artery disease		ISO	RGD:730972	D	RGD:1581414|PMID:12801623	19990101	RGD			
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:3817	cranial nerve palsy		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cranial nerve paralysis	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:730972	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:540	strabismus		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:557	kidney disease		IEP		D	RGD:1625196|PMID:15944339	20090610	RGD		protein:altered localization:kidney	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147110
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:783	end stage renal disease		IEP		D	RGD:2308825|PMID:16814791	20090610	RGD		mRNA, protein:increased expression:liver	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:783	end stage renal disease		ISO	RGD:730972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19878707
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:8725	vascular dementia		ISO	RGD:730972	D	RGD:1581412|PMID:16082694	19990101	RGD		DNA:SNPs, haplotype: :24489C>T, 34995G>T, 68891C>T (human)	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:730972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9000808	Hypercholesterolemia		IEP		D	RGD:1581819|PMID:16741953	20090610	RGD		protein:altered localization:liver	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:730972	D	RGD:1581415|PMID:15547298	20090609	RGD		DNA:polymorphism: :1784G>C (human)	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:730972	D	RGD:1625197|PMID:11950857	20070529	RGD		DNA:mutations:exon:p.V623M, p.R645Q (human)	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:730972	D	RGD:2308813|PMID:18095312	20090609	RGD			
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:730972	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9000918	Disease Progression		ISO	RGD:730972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730972	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:30394316
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:730973	D	RGD:1581418|PMID:16046298	20090609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:kidney	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:730973	D	RGD:2308815|PMID:16936198	20090609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:kidney	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9002449	Glomus Jugulare Tumor		ISO	RGD:730973	D	RGD:1581416|PMID:16316337	19990101	RGD			
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9002554	Tachycardia		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9003137	Photophobia		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9006095	Ascites		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ascites	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9006359	Vitamin D Deficiency		IEP		D	RGD:736803851|PMID:26694996	20260810	RGD		mRNA,protein:increased expression:liver	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9007090	Experimental Seizures		IEP		D	RGD:2308818|PMID:19124072	20090609	RGD		mRNA, protein:decreased expression:brain	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9007315	Methicillin-Resistant Staphylococcus Aureus Infection		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Methicillin-resistant staphylococcus aureus infectious disease	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9007661	Dwarfism		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:730972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20699619
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730972	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:30394316
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730972	D	RGD:1581419|PMID:15644403	19990101	RGD			
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9455	lipid storage disease		IEP		D	RGD:2308821|PMID:17524234	20090609	RGD			
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:730972	D	RGD:2308812|PMID:18682608	20090609	RGD			
1307751	Srebf2	sterol regulatory element binding transcription factor 2	gene	DOID:9970	obesity		IEP		D	RGD:2308843|PMID:9786926	20090610	RGD		protein:increased expression:fat cell, nucleus	
1307752	Rab5if	RAB5 interacting factor	gene	DOID:0081125	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2		ISO	RGD:1317125	D	RGD:7240710	20220810	OMIM			
1307753	Podnl1	podocan-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307753	Podnl1	podocan-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307753	Podnl1	podocan-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307753	Podnl1	podocan-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307754	Wipi1	WD repeat domain, phosphoinositide interacting 1	gene	DOID:13580	cholestasis		ISO	RGD:1605986	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
1307754	Wipi1	WD repeat domain, phosphoinositide interacting 1	gene	DOID:9455	lipid storage disease		ISO	RGD:1605986	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15342952|PMID:16919414|PMID:17175557
1307756	Dcst1	DC-STAMP domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307756	Dcst1	DC-STAMP domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307756	Dcst1	DC-STAMP domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307756	Dcst1	DC-STAMP domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307756	Dcst1	DC-STAMP domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307757	Sphk2	sphingosine kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1317131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307757	Sphk2	sphingosine kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1317131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307757	Sphk2	sphingosine kinase 2	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1317131	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:23043544
1307757	Sphk2	sphingosine kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307757	Sphk2	sphingosine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307757	Sphk2	sphingosine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307757	Sphk2	sphingosine kinase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1317131	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24859201
1307757	Sphk2	sphingosine kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307757	Sphk2	sphingosine kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:0060350	adenine phosphoribosyltransferase deficiency		ISO	RGD:1317133	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:0060350	adenine phosphoribosyltransferase deficiency		ISO	RGD:1317133	D	RGD:7240710	20141015	OMIM			
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:0060350	adenine phosphoribosyltransferase deficiency		ISO	RGD:1317133	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 2,8-dihydroxyadenine urolithiasis | ClinVar Annotator: match by term: APRT DEFICIENCY | ClinVar Annotator: match by term: APRT-related condition | ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency | ClinVar Annotator: match by term: adenine phosphoribosyltransferase deficiency	PMID:11243733|PMID:1353080|PMID:15571218|PMID:17126311|PMID:17576681|PMID:1781410|PMID:19435978|PMID:1977137|PMID:20150536|PMID:21304254|PMID:2135300|PMID:21635362|PMID:22212387|PMID:22988602|PMID:23430916|PMID:24459232|PMID:24940675|PMID:24986359|PMID:25741868|PMID:25983915|PMID:25984046|PMID:26724837|PMID:27994857|PMID:28492532|PMID:28566603|PMID:28717278|PMID:30106368|PMID:30355577|PMID:30389108|PMID:30890413|PMID:30993240|PMID:31201003|PMID:31440706|PMID:31589614|PMID:33273797|PMID:33707627|PMID:34044400|PMID:34267448|PMID:34805638|PMID:3680503|PMID:40794449|PMID:7685481|PMID:7758207|PMID:7912608|PMID:9298830|PMID:9521589|PMID:9536098
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:0060350	adenine phosphoribosyltransferase deficiency		ISS	RGD:1317134	D	RGD:13592920	20230718	MouseDO		OMIM:614723	
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:0080653	urolithiasis		ISO	RGD:1317133	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:7766|PMID:3876264
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:1115	sarcoma		ISO	RGD:1317133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:1909	melanoma		ISO	RGD:1317133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:4362	cervical cancer		ISO	RGD:1317133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1317133	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1317133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:630	genetic disease		ISO	RGD:1317133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:684	hepatocellular carcinoma		IEP		D	RGD:5135035|PMID:6327016	20110711	RGD		protein:increased activity:hepatoma (rat)	
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:1599204|PMID:2451510	20070119	RGD		protein:decreased activity:mammary gland (rat)	
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317133	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17659439
1307758	Aprt	adenine phosphoribosyl transferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307760	Nsmce1	NSE1 component of SMC5/6 complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307760	Nsmce1	NSE1 component of SMC5/6 complex	gene	DOID:1324	lung cancer		ISO	RGD:1350522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307760	Nsmce1	NSE1 component of SMC5/6 complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307760	Nsmce1	NSE1 component of SMC5/6 complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307760	Nsmce1	NSE1 component of SMC5/6 complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307761	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307761	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307761	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307761	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307761	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307761	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317138	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307761	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307761	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307761	Hmgn1	high mobility group nucleosome binding domain 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1317138	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24747640
1307763	Actl6b	actin-like 6B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351133	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:32312822
1307763	Actl6b	actin-like 6B	gene	DOID:0111136	congenital generalized lipodystrophy type 2		ISO	RGD:1351133	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2	PMID:25741868
1307763	Actl6b	actin-like 6B	gene	DOID:0112212	developmental and epileptic encephalopathy 76		ISO	RGD:1351133	D	RGD:7240710	20190731	OMIM			
1307763	Actl6b	actin-like 6B	gene	DOID:0112212	developmental and epileptic encephalopathy 76		ISO	RGD:1351133	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACTL6B-related BAFopathy | ClinVar Annotator: match by term: ACTL6B-related condition | ClinVar Annotator: match by term: ACTL6B-related recessive epilepsy | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 76 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76	PMID:23525042|PMID:25741868|PMID:26539891|PMID:30656450|PMID:31031012
1307763	Actl6b	actin-like 6B	gene	DOID:1059	intellectual disability		ISO	RGD:1351133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:31031012
1307763	Actl6b	actin-like 6B	gene	DOID:12849	autistic disorder		ISO	RGD:1351133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic disorder	PMID:25741868|PMID:31031012
1307763	Actl6b	actin-like 6B	gene	DOID:1826	epilepsy		ISO	RGD:1351133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:31031012|PMID:31134736
1307763	Actl6b	actin-like 6B	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1351133	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:28973294
1307763	Actl6b	actin-like 6B	gene	DOID:540	strabismus		ISO	RGD:1351133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:31134736
1307763	Actl6b	actin-like 6B	gene	DOID:543	dystonia		ISO	RGD:1351133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:31134736
1307763	Actl6b	actin-like 6B	gene	DOID:630	genetic disease		ISO	RGD:1351133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307763	Actl6b	actin-like 6B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1351133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:31134736
1307763	Actl6b	actin-like 6B	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1351133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:31134736
1307763	Actl6b	actin-like 6B	gene	DOID:9006467	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS		ISO	RGD:1351133	D	RGD:7240710	20190807	OMIM			
1307763	Actl6b	actin-like 6B	gene	DOID:9006467	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS		ISO	RGD:1351133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with severe speech and ambulation defects	PMID:25741868|PMID:31031012|PMID:35887114
1307763	Actl6b	actin-like 6B	gene	DOID:9007921	Spina Bifida Cystica		IEP		D	RGD:9587760|PMID:23677776	20141016	RGD			
1307763	Actl6b	actin-like 6B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31134736
1307764	Elk3	ETS transcription factor ELK3	gene	DOID:0060646	congenital chylothorax		ISS	RGD:1317144	D	RGD:13592920	20180518	MouseDO		OMIM:603523	
1307764	Elk3	ETS transcription factor ELK3	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1317143	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1307764	Elk3	ETS transcription factor ELK3	gene	DOID:3275	thymoma		ISO	RGD:1317143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307764	Elk3	ETS transcription factor ELK3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307764	Elk3	ETS transcription factor ELK3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307764	Elk3	ETS transcription factor ELK3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317143	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16583263
1307764	Elk3	ETS transcription factor ELK3	gene	DOID:9775	diastolic heart failure		ISO	RGD:1317143	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1307765	Cmtm6	CKLF-like MARVEL transmembrane domain containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1317145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307765	Cmtm6	CKLF-like MARVEL transmembrane domain containing 6	gene	DOID:1115	sarcoma		ISO	RGD:1317145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307765	Cmtm6	CKLF-like MARVEL transmembrane domain containing 6	gene	DOID:1909	melanoma		ISO	RGD:1317145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307765	Cmtm6	CKLF-like MARVEL transmembrane domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307766	Gan	gigaxonin	gene	DOID:0090068	giant axonal neuropathy 1		ISO	RGD:1317147	D	RGD:7240710	20180221	OMIM			
1307766	Gan	gigaxonin	gene	DOID:0090068	giant axonal neuropathy 1		ISO	RGD:1317147	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GIANT AXONAL NEUROPATHY 1 | ClinVar Annotator: match by term: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Giant axonal neuropathy 1	PMID:11062483|PMID:11971098|PMID:12655563|PMID:12668605|PMID:14718689|PMID:15897506|PMID:16199547|PMID:17576681|PMID:17587580|PMID:19231187|PMID:19295179|PMID:20949505|PMID:23248352|PMID:23585478|PMID:23699708|PMID:23890932|PMID:25025039|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29876741|PMID:30246730|PMID:30373780|PMID:30532362|PMID:31655922|PMID:32158379|PMID:32999401|PMID:34114613|PMID:36539320|PMID:37273706|PMID:37648479|PMID:38703036|PMID:9536098
1307766	Gan	gigaxonin	gene	DOID:0090068	giant axonal neuropathy 1		ISS	RGD:1317148	D	RGD:13592920	20230718	MouseDO		OMIM:256850	
1307766	Gan	gigaxonin	gene	DOID:1059	intellectual disability		ISO	RGD:1317147	D	RGD:8554872	20210309	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	PMID:30167849
1307766	Gan	gigaxonin	gene	DOID:1059	intellectual disability		ISO	RGD:1317147	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	
1307766	Gan	gigaxonin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1317147	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:24627108|PMID:25025039|PMID:25741868|PMID:28492532
1307766	Gan	gigaxonin	gene	DOID:11720	distal myopathy		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:15897506|PMID:25741868|PMID:28492532
1307766	Gan	gigaxonin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307766	Gan	gigaxonin	gene	DOID:4362	cervical cancer		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307766	Gan	gigaxonin	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1317147	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19398414
1307766	Gan	gigaxonin	gene	DOID:630	genetic disease		ISO	RGD:1317147	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11062483|PMID:12655563|PMID:14718689|PMID:16199547|PMID:23248352|PMID:23890932|PMID:25025039|PMID:25741868|PMID:28492532|PMID:32999401|PMID:34114613|PMID:36539320
1307766	Gan	gigaxonin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307766	Gan	gigaxonin	gene	DOID:9000462	Giant Axonal Neuropathy		ISO	RGD:1317147	D	RGD:11554173	20180227	CTD		CTD Direct Evidence: marker/mechanism	
1307766	Gan	gigaxonin	gene	DOID:9000462	Giant Axonal Neuropathy		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Giant axonal neuropathy	PMID:11053687|PMID:11062483|PMID:12655563|PMID:14718689|PMID:15897506|PMID:16565160|PMID:17331252|PMID:17578852|PMID:17587580|PMID:19295179|PMID:21356581|PMID:23248352|PMID:23316953|PMID:23332420|PMID:23890932|PMID:24464710|PMID:24758703|PMID:25040701|PMID:25741868|PMID:28492532|PMID:30532362|PMID:32158379|PMID:32999401|PMID:37273706|PMID:37712079
1307766	Gan	gigaxonin	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:17587580|PMID:19295179|PMID:23248352|PMID:25741868|PMID:28492532|PMID:30246730|PMID:31771860
1307766	Gan	gigaxonin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317147	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1307766	Gan	gigaxonin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307766	Gan	gigaxonin	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1317147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:15897506|PMID:25741868|PMID:28492532
1307768	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307768	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317150	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1307768	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307768	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307768	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:1909	melanoma		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307768	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307768	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307768	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307768	Tm9sf4	transmembrane 9 superfamily member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:0110130	Bardet-Biedl syndrome 8		ISO	RGD:1317152	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:0110130	Bardet-Biedl syndrome 8		ISO	RGD:1317152	D	RGD:7240710	20171011	OMIM			
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:0110130	Bardet-Biedl syndrome 8		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 8 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 | ClinVar Annotator: match by term: TTC8-related condition	PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:32483926|PMID:32962042|PMID:33138063|PMID:33532864|PMID:33964006|PMID:9536098
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:0110130	Bardet-Biedl syndrome 8		ISS	RGD:1317153	D	RGD:13592920	20230718	MouseDO		OMIM:615985	
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:0110398	retinitis pigmentosa 51		ISO	RGD:1317152	D	RGD:7240710	20130425	OMIM			
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:0110398	retinitis pigmentosa 51		ISO	RGD:1317152	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 51 | ClinVar Annotator: match by term: Retinitis pigmentosa 51	PMID:16308660|PMID:16877420|PMID:19797195|PMID:20451172|PMID:21052717|PMID:25741868|PMID:25776555|PMID:28492532|PMID:30886724
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:10534	stomach cancer		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317152	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317152	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:14520415|PMID:16308660|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30718709
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317152	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317152	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:14520415|PMID:25741868|PMID:28492532
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:1059	intellectual disability		ISO	RGD:1317152	D	RGD:8554872	20211207	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:16308660|PMID:17576681|PMID:20177705|PMID:21044901|PMID:24033266|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30886724|PMID:32962042|PMID:33138063|PMID:9536098
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:1324	lung cancer		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1317152	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:21052717|PMID:25741868|PMID:25999674|PMID:28492532|PMID:30886724|PMID:31736247|PMID:31852928|PMID:31951201|PMID:33587123|PMID:34426522|PMID:37031301|PMID:9536098
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:1935	Bardet-Biedl syndrome	susceptibility	ISO	RGD:1317152	D	RGD:1624198|PMID:14520415	20070503	RGD		DNA:deletions:exon, splice junction :p.E187_Y188del, IVS10+2_+4delTGC	
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1317152	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:630	genetic disease		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:8466	retinal degeneration		ISO	RGD:12071899	D	RGD:9068941	20250501	OMIA		Retinal atrophy, progressive, TTC8-related	PMID:22065099|PMID:26401321|PMID:26427412|PMID:32962042|PMID:36325094|PMID:37582787|PMID:38028226|PMID:38334230
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:21052717|PMID:25741868|PMID:28492532|PMID:30886724|PMID:9536098
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307769	Ttc8	tetratricopeptide repeat domain 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307770	Gga1	golgi associated, gamma adaptin ear containing, ARF binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307770	Gga1	golgi associated, gamma adaptin ear containing, ARF binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307770	Gga1	golgi associated, gamma adaptin ear containing, ARF binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1317154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307770	Gga1	golgi associated, gamma adaptin ear containing, ARF binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317154	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307770	Gga1	golgi associated, gamma adaptin ear containing, ARF binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307770	Gga1	golgi associated, gamma adaptin ear containing, ARF binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307770	Gga1	golgi associated, gamma adaptin ear containing, ARF binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307770	Gga1	golgi associated, gamma adaptin ear containing, ARF binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307771	Wiz	WIZ zinc finger	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1607009	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex	PMID:25741868
1307771	Wiz	WIZ zinc finger	gene	DOID:10534	stomach cancer		ISO	RGD:1607009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307771	Wiz	WIZ zinc finger	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307771	Wiz	WIZ zinc finger	gene	DOID:1324	lung cancer		ISO	RGD:1607009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307771	Wiz	WIZ zinc finger	gene	DOID:1909	melanoma		ISO	RGD:1607009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307771	Wiz	WIZ zinc finger	gene	DOID:1936	atherosclerosis		ISO	RGD:1607009	D	RGD:155882464|PMID:33381146	20230123	RGD		associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human)	
1307771	Wiz	WIZ zinc finger	gene	DOID:3275	thymoma		ISO	RGD:1607009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307771	Wiz	WIZ zinc finger	gene	DOID:5041	esophageal cancer		ISO	RGD:1607009	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307771	Wiz	WIZ zinc finger	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307771	Wiz	WIZ zinc finger	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307772	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307772	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307772	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307772	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307772	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307772	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307772	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307772	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307772	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307772	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307772	Ripor1	RHO family interacting cell polarization regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307773	Pgp	phosphoglycolate phosphatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307774	Nup37	nucleoporin 37	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307774	Nup37	nucleoporin 37	gene	DOID:0051035	primary autosomal recessive microcephaly 24		ISO	RGD:1317159	D	RGD:7240710	20190315	OMIM			
1307774	Nup37	nucleoporin 37	gene	DOID:0051035	primary autosomal recessive microcephaly 24		ISO	RGD:1317159	D	RGD:8554872	20190507	ClinVar		ClinVar Annotator: match by term: Microcephaly 24, primary, autosomal recessive | ClinVar Annotator: match by term: NUP37-related condition	PMID:25741868|PMID:30179222
1307774	Nup37	nucleoporin 37	gene	DOID:1909	melanoma		ISO	RGD:1317159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307774	Nup37	nucleoporin 37	gene	DOID:3275	thymoma		ISO	RGD:1317159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307774	Nup37	nucleoporin 37	gene	DOID:4362	cervical cancer		ISO	RGD:1317159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307774	Nup37	nucleoporin 37	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307774	Nup37	nucleoporin 37	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307774	Nup37	nucleoporin 37	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307774	Nup37	nucleoporin 37	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307774	Nup37	nucleoporin 37	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307775	Kdsr	3-ketodihydrosphingosine reductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307775	Kdsr	3-ketodihydrosphingosine reductase	gene	DOID:0050873	follicular lymphoma		ISO	RGD:1317161	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25526675
1307775	Kdsr	3-ketodihydrosphingosine reductase	gene	DOID:0050873	follicular lymphoma		ISO	RGD:1317161	D	RGD:1598985|PMID:8417785	20070110	RGD			
1307775	Kdsr	3-ketodihydrosphingosine reductase	gene	DOID:0080250	erythrokeratodermia variabilis et progressiva 4		ISO	RGD:1317161	D	RGD:7240710	20190315	OMIM			
1307775	Kdsr	3-ketodihydrosphingosine reductase	gene	DOID:0080250	erythrokeratodermia variabilis et progressiva 4		ISO	RGD:1317161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 4	PMID:25741868|PMID:28774589
1307775	Kdsr	3-ketodihydrosphingosine reductase	gene	DOID:1115	sarcoma		ISO	RGD:1317161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1307775	Kdsr	3-ketodihydrosphingosine reductase	gene	DOID:1324	lung cancer		ISO	RGD:1317161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307775	Kdsr	3-ketodihydrosphingosine reductase	gene	DOID:1909	melanoma		ISO	RGD:1317161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307775	Kdsr	3-ketodihydrosphingosine reductase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
1307775	Kdsr	3-ketodihydrosphingosine reductase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307775	Kdsr	3-ketodihydrosphingosine reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307775	Kdsr	3-ketodihydrosphingosine reductase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307775	Kdsr	3-ketodihydrosphingosine reductase	gene	DOID:630	genetic disease		ISO	RGD:1317161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307775	Kdsr	3-ketodihydrosphingosine reductase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1307776	Opalin	oligodendrocytic myelin paranodal and inner loop protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307776	Opalin	oligodendrocytic myelin paranodal and inner loop protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1317163	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307776	Opalin	oligodendrocytic myelin paranodal and inner loop protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307776	Opalin	oligodendrocytic myelin paranodal and inner loop protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307777	Rbms1	RNA binding motif, single stranded interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307777	Rbms1	RNA binding motif, single stranded interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1317165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307777	Rbms1	RNA binding motif, single stranded interacting protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307777	Rbms1	RNA binding motif, single stranded interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317165	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307777	Rbms1	RNA binding motif, single stranded interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307777	Rbms1	RNA binding motif, single stranded interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307777	Rbms1	RNA binding motif, single stranded interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307778	Tmem168	transmembrane protein 168	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307778	Tmem168	transmembrane protein 168	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307778	Tmem168	transmembrane protein 168	gene	DOID:10534	stomach cancer		ISO	RGD:1605052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307778	Tmem168	transmembrane protein 168	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307779	Rfx3	regulatory factor X3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307779	Rfx3	regulatory factor X3	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1317169	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1307779	Rfx3	regulatory factor X3	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868|PMID:33658631
1307779	Rfx3	regulatory factor X3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317168	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307779	Rfx3	regulatory factor X3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317168	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1307779	Rfx3	regulatory factor X3	gene	DOID:10534	stomach cancer		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307779	Rfx3	regulatory factor X3	gene	DOID:1059	intellectual disability		ISO	RGD:1317168	D	RGD:8554872	20250603	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: RFX3-related intellectual disability	PMID:25741868
1307779	Rfx3	regulatory factor X3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1317168	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1307779	Rfx3	regulatory factor X3	gene	DOID:1115	sarcoma		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307779	Rfx3	regulatory factor X3	gene	DOID:1909	melanoma		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307779	Rfx3	regulatory factor X3	gene	DOID:3275	thymoma		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307779	Rfx3	regulatory factor X3	gene	DOID:37	skin disease		ISO	RGD:1317168	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1307779	Rfx3	regulatory factor X3	gene	DOID:4362	cervical cancer		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307779	Rfx3	regulatory factor X3	gene	DOID:5041	esophageal cancer		ISO	RGD:1317168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307779	Rfx3	regulatory factor X3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307779	Rfx3	regulatory factor X3	gene	DOID:630	genetic disease		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1307779	Rfx3	regulatory factor X3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317168	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28831199|PMID:33658631
1307779	Rfx3	regulatory factor X3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:33658631
1307779	Rfx3	regulatory factor X3	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1317168	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1307779	Rfx3	regulatory factor X3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:33658631
1307779	Rfx3	regulatory factor X3	gene	DOID:9008582	Developmental Disease		ISO	RGD:1317168	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1307779	Rfx3	regulatory factor X3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307781	Cdkn3	cyclin-dependent kinase inhibitor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307781	Cdkn3	cyclin-dependent kinase inhibitor 3	gene	DOID:0080600	COVID-19		ISO	RGD:1317172	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307781	Cdkn3	cyclin-dependent kinase inhibitor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307781	Cdkn3	cyclin-dependent kinase inhibitor 3	gene	DOID:3070	high grade glioma		ISO	RGD:1317172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307781	Cdkn3	cyclin-dependent kinase inhibitor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1317172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307781	Cdkn3	cyclin-dependent kinase inhibitor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307781	Cdkn3	cyclin-dependent kinase inhibitor 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307781	Cdkn3	cyclin-dependent kinase inhibitor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317172	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307781	Cdkn3	cyclin-dependent kinase inhibitor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317172	D	RGD:15090802|PMID:23292002	20191219	RGD		associated with alcoholism; protein:increased expression:liver	
1307781	Cdkn3	cyclin-dependent kinase inhibitor 3	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1317172	D	RGD:15090800|PMID:22390936	20191219	RGD		mRNA:increased expression:liver	
1307781	Cdkn3	cyclin-dependent kinase inhibitor 3	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1317172	D	RGD:15090801|PMID:27314282	20191219	RGD		protein:decreased expression:liver	
1307781	Cdkn3	cyclin-dependent kinase inhibitor 3	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1317172	D	RGD:15090802|PMID:23292002	20191219	RGD			
1307781	Cdkn3	cyclin-dependent kinase inhibitor 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307781	Cdkn3	cyclin-dependent kinase inhibitor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307783	Ccne2	cyclin E2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307783	Ccne2	cyclin E2	gene	DOID:0060058	lymphoma		ISO	RGD:1317175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307783	Ccne2	cyclin E2	gene	DOID:0080909	castration-resistant prostate carcinoma	treatment	ISO	RGD:1317175	D	RGD:13504681|PMID:27431942	20180116	RGD			
1307783	Ccne2	cyclin E2	gene	DOID:10534	stomach cancer		ISO	RGD:1317175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307783	Ccne2	cyclin E2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307783	Ccne2	cyclin E2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1317175	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1307783	Ccne2	cyclin E2	gene	DOID:1324	lung cancer		ISO	RGD:1317175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307783	Ccne2	cyclin E2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1317175	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
1307783	Ccne2	cyclin E2	gene	DOID:1909	melanoma		ISO	RGD:1317175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307783	Ccne2	cyclin E2	gene	DOID:2394	ovarian cancer		ISO	RGD:1317175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307783	Ccne2	cyclin E2	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:1317176	D	RGD:13504706|PMID:25315431	20180117	RGD			
1307783	Ccne2	cyclin E2	gene	DOID:289	endometriosis		ISO	RGD:1317175	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1307783	Ccne2	cyclin E2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317175	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:29464035
1307784	Prpf4b	pre-mRNA processing factor 4B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307784	Prpf4b	pre-mRNA processing factor 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307784	Prpf4b	pre-mRNA processing factor 4B	gene	DOID:1115	sarcoma		ISO	RGD:1317177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307784	Prpf4b	pre-mRNA processing factor 4B	gene	DOID:1909	melanoma		ISO	RGD:1317177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307784	Prpf4b	pre-mRNA processing factor 4B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307784	Prpf4b	pre-mRNA processing factor 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1317177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307784	Prpf4b	pre-mRNA processing factor 4B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307784	Prpf4b	pre-mRNA processing factor 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307784	Prpf4b	pre-mRNA processing factor 4B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307784	Prpf4b	pre-mRNA processing factor 4B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307784	Prpf4b	pre-mRNA processing factor 4B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307784	Prpf4b	pre-mRNA processing factor 4B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307785	Rassf4	Ras association domain family member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307785	Rassf4	Ras association domain family member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307785	Rassf4	Ras association domain family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307785	Rassf4	Ras association domain family member 4	gene	DOID:1909	melanoma		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307785	Rassf4	Ras association domain family member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307785	Rassf4	Ras association domain family member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307785	Rassf4	Ras association domain family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307785	Rassf4	Ras association domain family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307785	Rassf4	Ras association domain family member 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317179	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307785	Rassf4	Ras association domain family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307785	Rassf4	Ras association domain family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307786	Commd7	COMM domain containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307786	Commd7	COMM domain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307786	Commd7	COMM domain containing 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307786	Commd7	COMM domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307786	Commd7	COMM domain containing 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307786	Commd7	COMM domain containing 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307786	Commd7	COMM domain containing 7	gene	DOID:4362	cervical cancer		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307786	Commd7	COMM domain containing 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307786	Commd7	COMM domain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307786	Commd7	COMM domain containing 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307786	Commd7	COMM domain containing 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307786	Commd7	COMM domain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307787	Snx20	sorting nexin 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307788	Sgcz	sarcoglycan zeta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307788	Sgcz	sarcoglycan zeta	gene	DOID:1324	lung cancer		ISO	RGD:1317183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307788	Sgcz	sarcoglycan zeta	gene	DOID:1909	melanoma		ISO	RGD:1317183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307788	Sgcz	sarcoglycan zeta	gene	DOID:37	skin disease		ISO	RGD:1317183	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28720099
1307788	Sgcz	sarcoglycan zeta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307788	Sgcz	sarcoglycan zeta	gene	DOID:670	amphetamine abuse		ISO	RGD:1317183	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1307789	Mri1	methylthioribose-1-phosphate isomerase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307789	Mri1	methylthioribose-1-phosphate isomerase 1	gene	DOID:1115	sarcoma		ISO	RGD:1604271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307789	Mri1	methylthioribose-1-phosphate isomerase 1	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1604271	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Severe cystic degeneration of the brain	PMID:25741868
1307789	Mri1	methylthioribose-1-phosphate isomerase 1	gene	DOID:1909	melanoma		ISO	RGD:1604271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307789	Mri1	methylthioribose-1-phosphate isomerase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307789	Mri1	methylthioribose-1-phosphate isomerase 1	gene	DOID:3275	thymoma		ISO	RGD:1604271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307789	Mri1	methylthioribose-1-phosphate isomerase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307789	Mri1	methylthioribose-1-phosphate isomerase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307790	Eif4e2	eukaryotic translation initiation factor 4E family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307790	Eif4e2	eukaryotic translation initiation factor 4E family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307790	Eif4e2	eukaryotic translation initiation factor 4E family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307790	Eif4e2	eukaryotic translation initiation factor 4E family member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307790	Eif4e2	eukaryotic translation initiation factor 4E family member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307790	Eif4e2	eukaryotic translation initiation factor 4E family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307790	Eif4e2	eukaryotic translation initiation factor 4E family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307790	Eif4e2	eukaryotic translation initiation factor 4E family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307790	Eif4e2	eukaryotic translation initiation factor 4E family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307791	Akirin2	akirin 2	gene	DOID:1115	sarcoma		ISO	RGD:1317188	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307791	Akirin2	akirin 2	gene	DOID:1324	lung cancer		ISO	RGD:1317188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307791	Akirin2	akirin 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307791	Akirin2	akirin 2	gene	DOID:9000965	Neoplasm Metastasis		IMP		D	RGD:2306009|PMID:18460465	20110714	RGD			
1307791	Akirin2	akirin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1348957	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:21255762|PMID:25741868|PMID:28492532|PMID:30303587
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:24033266|PMID:25741868|PMID:28492532
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:0110500	autosomal recessive nonsyndromic deafness 42		ISO	RGD:1348957	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:0110500	autosomal recessive nonsyndromic deafness 42		ISO	RGD:1348957	D	RGD:7240710	20130221	OMIM			
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:0110500	autosomal recessive nonsyndromic deafness 42		ISO	RGD:1348957	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 42 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 42 | ClinVar Annotator: match by term: ILDR1-related condition	PMID:21255762|PMID:23239027|PMID:24033266|PMID:25668204|PMID:25741868|PMID:26226137|PMID:26440088|PMID:26969326|PMID:27610647|PMID:28492532|PMID:28945813|PMID:29178603|PMID:29849566|PMID:30303587|PMID:30311386|PMID:30804975|PMID:32747562|PMID:33724713
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:0110500	autosomal recessive nonsyndromic deafness 42		ISS	RGD:1552760	D	RGD:13592920	20230718	MouseDO		OMIM:609646	
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:21255762|PMID:25668204|PMID:25741868|PMID:28492532|PMID:29178603|PMID:29849566|PMID:33724713
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:11830	myopia		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:24033266|PMID:25741868|PMID:28492532
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:24033266|PMID:25741868|PMID:28492532
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:24033266|PMID:25741868|PMID:28492532
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:1909	melanoma		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:3488	cellulitis		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cellulitis	PMID:24033266|PMID:25741868|PMID:28492532
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:3627	aortic aneurysm		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:24033266|PMID:25741868|PMID:28492532
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:479	angiokeratoma		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angiokeratoma	PMID:24033266|PMID:25741868|PMID:28492532
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348957	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:630	genetic disease		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:799	varicose veins		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Varicose disease	PMID:24033266|PMID:25741868|PMID:28492532
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:83	cataract		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:24033266|PMID:25741868|PMID:28492532
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:9001224	Striae Distensae		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:24033266|PMID:25741868|PMID:28492532
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348957	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:15641023|PMID:21255762|PMID:24033266|PMID:25741868|PMID:27610647|PMID:28492532|PMID:30303587|PMID:30311386
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348957	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:21255762|PMID:24033266|PMID:25668204|PMID:25741868|PMID:27610647|PMID:28492532|PMID:30303587|PMID:30311386|PMID:33724713
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:24033266|PMID:25741868|PMID:28492532
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:24033266|PMID:25741868|PMID:28492532
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:9008681	Deafness		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:21255762|PMID:25741868|PMID:28492532|PMID:30303587
1307792	Ildr1	immunoglobulin-like domain containing receptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307793	Pole4	DNA polymerase epsilon 4, accessory subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307793	Pole4	DNA polymerase epsilon 4, accessory subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307793	Pole4	DNA polymerase epsilon 4, accessory subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307793	Pole4	DNA polymerase epsilon 4, accessory subunit	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307793	Pole4	DNA polymerase epsilon 4, accessory subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307794	Bag3	BAG cochaperone 3	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1317192	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:21898660|PMID:23861362|PMID:25741868|PMID:28492532|PMID:29382405|PMID:30615648|PMID:33658040|PMID:34426522
1307794	Bag3	BAG cochaperone 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1317192	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:24033266|PMID:25741868|PMID:26467025|PMID:27042682|PMID:28166811|PMID:28492532
1307794	Bag3	BAG cochaperone 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1317192	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:21459883|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27042682|PMID:28492532
1307794	Bag3	BAG cochaperone 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1317192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:21353195|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32746448|PMID:35732239
1307794	Bag3	BAG cochaperone 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1317192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:21353195|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30140897|PMID:32956817|PMID:35732239
1307794	Bag3	BAG cochaperone 3	gene	DOID:0051042	autosomal dominant distal hereditary motor neuronopathy 15		ISO	RGD:1317192	D	RGD:7240710	20250219	OMIM			
1307794	Bag3	BAG cochaperone 3	gene	DOID:0051042	autosomal dominant distal hereditary motor neuronopathy 15		ISO	RGD:1317192	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 15	
1307794	Bag3	BAG cochaperone 3	gene	DOID:0051043	Charcot-Marie-Tooth disease axonal type 2JJ		ISO	RGD:1317192	D	RGD:7240710	20250219	OMIM			
1307794	Bag3	BAG cochaperone 3	gene	DOID:0051043	Charcot-Marie-Tooth disease axonal type 2JJ		ISO	RGD:1317192	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2JJ	
1307794	Bag3	BAG cochaperone 3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1317192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:24033266|PMID:25741868|PMID:28492532|PMID:30140897|PMID:32956817
1307794	Bag3	BAG cochaperone 3	gene	DOID:0080097	myofibrillar myopathy 6		ISO	RGD:1317192	D	RGD:7240710	20130221	OMIM			
1307794	Bag3	BAG cochaperone 3	gene	DOID:0080097	myofibrillar myopathy 6		ISO	RGD:1317192	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy 6	PMID:16199547|PMID:17576681|PMID:19085932|PMID:20301672|PMID:20605452|PMID:21353195|PMID:21361913|PMID:21459883|PMID:2159883|PMID:21676617|PMID:21898660|PMID:22337857|PMID:22734908|PMID:23582692|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25448463|PMID:25617006|PMID:25640679|PMID:25728519|PMID:25741868|PMID:25741870|PMID:25925243|PMID:26272908|PMID:26383716|PMID:26392352|PMID:26467025|PMID:26512958|PMID:26545904|PMID:26899768|PMID:27042682|PMID:27164712|PMID:27321750|PMID:27443559|PMID:27896284|PMID:28087566|PMID:28224639|PMID:28254189|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28611029|PMID:28669108|PMID:28704380|PMID:28708278|PMID:28737513|PMID:28750076|PMID:28754666|PMID:28798025|PMID:29016939|PMID:29029362|PMID:29247119|PMID:29338979|PMID:29382405|PMID:29892087|PMID:29961767|PMID:29970176|PMID:30012837|PMID:30061062|PMID:30140897|PMID:30145633|PMID:30373780|PMID:30377383|PMID:30384889|PMID:30442290|PMID:30471092|PMID:30559338|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31395899|PMID:31514951|PMID:31568572|PMID:31723063|PMID:31737537|PMID:31785789|PMID:31931689|PMID:31983221|PMID:32160020|PMID:32453099|PMID:32458740|PMID:32472079|PMID:32746448|PMID:32859500|PMID:32880476|PMID:33057194|PMID:33146414|PMID:33500567|PMID:33658040|PMID:33874732|PMID:33917638|PMID:33989081|PMID:34036930|PMID:34117258|PMID:34213952|PMID:34363016|PMID:34426522|PMID:34935411|PMID:35026164|PMID:35029900|PMID:35290091|PMID:35732239|PMID:36382946|PMID:36642055|PMID:37652022|PMID:37904629|PMID:37937352|PMID:38380180|PMID:38689299|PMID:38849547|PMID:39481677|PMID:8436997|PMID:9536098
1307794	Bag3	BAG cochaperone 3	gene	DOID:0080097	myofibrillar myopathy 6		ISO	RGD:1317192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BAG3-related condition | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 6 | ClinVar Annotator: match by term: Myofibrillar myopathy 6	PMID:17576681|PMID:19085932|PMID:20605452|PMID:21353195|PMID:21361913|PMID:21459883|PMID:21898660|PMID:22734908|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25208129|PMID:25448463|PMID:25617006|PMID:25741868|PMID:25925243|PMID:26467025|PMID:26899768|PMID:28254189|PMID:28436997|PMID:28492532|PMID:28611029|PMID:28750076|PMID:29247119|PMID:29961767|PMID:30140897|PMID:30442290|PMID:30559338|PMID:30847666|PMID:31737537|PMID:31983221|PMID:32160020|PMID:32472079|PMID:32746448|PMID:32859500|PMID:32956817|PMID:33874732|PMID:35732239|PMID:35838873|PMID:36077770|PMID:37652022|PMID:39059779|PMID:39472908|PMID:9536098
1307794	Bag3	BAG cochaperone 3	gene	DOID:0080307	myofibrillar myopathy		ISO	RGD:1317192	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1307794	Bag3	BAG cochaperone 3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1317192	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532|PMID:29970176|PMID:31395899|PMID:33874732|PMID:36642055
1307794	Bag3	BAG cochaperone 3	gene	DOID:0110087	asphyxiating thoracic dystrophy 3		ISO	RGD:1317192	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I	PMID:21361913|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
1307794	Bag3	BAG cochaperone 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317192	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:25741868|PMID:28492532|PMID:31395899
1307794	Bag3	BAG cochaperone 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317192	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:25741868|PMID:28492532|PMID:29970176|PMID:31395899|PMID:33874732
1307794	Bag3	BAG cochaperone 3	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1317192	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	PMID:21353195|PMID:24033266|PMID:25741868|PMID:28436997|PMID:28492532|PMID:28669108|PMID:32160020|PMID:36642055
1307794	Bag3	BAG cochaperone 3	gene	DOID:0110448	dilated cardiomyopathy 1HH		ISO	RGD:1317192	D	RGD:7240710	20140903	OMIM			
1307794	Bag3	BAG cochaperone 3	gene	DOID:0110448	dilated cardiomyopathy 1HH		ISO	RGD:1317192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1HH | ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH	PMID:16199547|PMID:17576681|PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25617006|PMID:25640679|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26383716|PMID:26467025|PMID:26899768|PMID:27164712|PMID:28254189|PMID:28359509|PMID:28436997|PMID:28492532|PMID:28611029|PMID:28708278|PMID:28750076|PMID:28754666|PMID:28798025|PMID:29247119|PMID:29961767|PMID:30140897|PMID:30373780|PMID:30442290|PMID:30559338|PMID:30847666|PMID:30975432|PMID:31737537|PMID:31785789|PMID:31931689|PMID:31983221|PMID:32160020|PMID:32746448|PMID:32859500|PMID:32880476|PMID:32956817|PMID:33057194|PMID:33874732|PMID:33954932|PMID:33989081|PMID:34135346|PMID:34363016|PMID:35290091|PMID:35732239|PMID:35838873|PMID:36382946|PMID:37652022|PMID:38641168|PMID:39059779|PMID:39472908|PMID:8436997|PMID:9536098
1307794	Bag3	BAG cochaperone 3	gene	DOID:0110448	dilated cardiomyopathy 1HH		ISS	RGD:1317193	D	RGD:13592920	20230718	MouseDO		OMIM:613881	
1307794	Bag3	BAG cochaperone 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307794	Bag3	BAG cochaperone 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317192	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:31333075|PMID:31568572
1307794	Bag3	BAG cochaperone 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317192	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:31333075|PMID:31568572|PMID:34213952
1307794	Bag3	BAG cochaperone 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317192	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30847666|PMID:31333075|PMID:31568572|PMID:34213952
1307794	Bag3	BAG cochaperone 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317192	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30442290|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32458740|PMID:34213952
1307794	Bag3	BAG cochaperone 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317192	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25741870|PMID:25925243|PMID:26467025|PMID:26512958|PMID:27042682|PMID:27321750|PMID:27896284|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30442290|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32458740|PMID:33989081|PMID:34213952|PMID:34935411
1307794	Bag3	BAG cochaperone 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317192	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25741870|PMID:25925243|PMID:26467025|PMID:26512958|PMID:27042682|PMID:27321750|PMID:27896284|PMID:28436997|PMID:28492532|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30442290|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32458740|PMID:33989081|PMID:34213952|PMID:34935411|PMID:39481677
1307794	Bag3	BAG cochaperone 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317192	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dilated CardioMyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17576681|PMID:21353195|PMID:21459883|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:27321750|PMID:28436997|PMID:28492532|PMID:30442290|PMID:32160020|PMID:33989081|PMID:34935411|PMID:37652022|PMID:9536098
1307794	Bag3	BAG cochaperone 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dilated CardioMyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17576681|PMID:21353195|PMID:21459883|PMID:23861362|PMID:24033266|PMID:25008357|PMID:25741868|PMID:25925243|PMID:28436997|PMID:28492532|PMID:32160020|PMID:35838873|PMID:37652022|PMID:39472908|PMID:9536098
1307794	Bag3	BAG cochaperone 3	gene	DOID:1793	pancreatic cancer		ISO	RGD:1317192	D	RGD:2325843|PMID:11513873	20100611	RGD		mRNA:increased expression:pancreas	
1307794	Bag3	BAG cochaperone 3	gene	DOID:2843	long QT syndrome		ISO	RGD:1317192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:28492532
1307794	Bag3	BAG cochaperone 3	gene	DOID:3068	glioblastoma	treatment	IMP		D	RGD:5687132|PMID:21561597	20180320	RGD			
1307794	Bag3	BAG cochaperone 3	gene	DOID:3275	thymoma		ISO	RGD:1317192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307794	Bag3	BAG cochaperone 3	gene	DOID:423	myopathy		ISO	RGD:1317192	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:28492532
1307794	Bag3	BAG cochaperone 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1317192	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307794	Bag3	BAG cochaperone 3	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1317192	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17187345
1307794	Bag3	BAG cochaperone 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317192	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307794	Bag3	BAG cochaperone 3	gene	DOID:820	myocarditis		ISO	RGD:1317192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocarditis	PMID:21353195|PMID:25008357|PMID:25741868|PMID:28492532|PMID:34213952
1307794	Bag3	BAG cochaperone 3	gene	DOID:9004009	Reperfusion Injury		IEP		D	RGD:2325848|PMID:12061864	20100611	RGD		protein:increased expression:hippocampus, astrocyte	
1307794	Bag3	BAG cochaperone 3	gene	DOID:9007090	Experimental Seizures		IEP		D	RGD:2325847|PMID:12085992	20100611	RGD		protein:increased expression:hippocampus, astrocyte	
1307795	Zfyve1	zinc finger FYVE-type containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307795	Zfyve1	zinc finger FYVE-type containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307795	Zfyve1	zinc finger FYVE-type containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307795	Zfyve1	zinc finger FYVE-type containing 1	gene	DOID:3275	thymoma		ISO	RGD:1317194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307795	Zfyve1	zinc finger FYVE-type containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307795	Zfyve1	zinc finger FYVE-type containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317194	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307795	Zfyve1	zinc finger FYVE-type containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307795	Zfyve1	zinc finger FYVE-type containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307795	Zfyve1	zinc finger FYVE-type containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307795	Zfyve1	zinc finger FYVE-type containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307796	Igsf3	immunoglobulin superfamily, member 3	gene	DOID:10485	esophageal atresia		ISO	RGD:1317196	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
1307796	Igsf3	immunoglobulin superfamily, member 3	gene	DOID:13929	lacrimal duct obstruction		ISO	RGD:1317196	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307796	Igsf3	immunoglobulin superfamily, member 3	gene	DOID:13929	lacrimal duct obstruction		ISO	RGD:1317196	D	RGD:7240710	20171011	OMIM			
1307796	Igsf3	immunoglobulin superfamily, member 3	gene	DOID:13929	lacrimal duct obstruction		ISO	RGD:1317196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IGSF3-related condition	PMID:25741868|PMID:28492532
1307796	Igsf3	immunoglobulin superfamily, member 3	gene	DOID:2661	myoepithelioma		ISO	RGD:1317196	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1307796	Igsf3	immunoglobulin superfamily, member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1317196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307796	Igsf3	immunoglobulin superfamily, member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307796	Igsf3	immunoglobulin superfamily, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307796	Igsf3	immunoglobulin superfamily, member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307799	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307799	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:10534	stomach cancer		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307799	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:1324	lung cancer		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307799	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307799	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307799	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:4362	cervical cancer		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307799	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:5041	esophageal cancer		ISO	RGD:1605407	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307799	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307799	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:6039	uveal melanoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307799	Ist1	IST1 factor associated with ESCRT-III	gene	DOID:9256	colorectal cancer		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307800	Apobec3	apolipoprotein B mRNA editing enzyme catalytic subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307800	Apobec3	apolipoprotein B mRNA editing enzyme catalytic subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307800	Apobec3	apolipoprotein B mRNA editing enzyme catalytic subunit 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307800	Apobec3	apolipoprotein B mRNA editing enzyme catalytic subunit 3	gene	DOID:9006623	Murine Acquired Immunodeficiency Syndrome	disease_progression	ISO	RGD:1317203	D	RGD:40902617|PMID:23725696	20201209	RGD		associated with Arterivirus Infections	
1307800	Apobec3	apolipoprotein B mRNA editing enzyme catalytic subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307801	Cmtr1	cap methyltransferase 1	gene	DOID:2841	asthma	exacerbates	ISO	RGD:1317204	D	RGD:736802377|PMID:26734457	20260729	RGD			
1307801	Cmtr1	cap methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:1115	sarcoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:1324	lung cancer		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:3275	thymoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1351757	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1351757	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307803	Herc3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307804	Ifit2	interferon-induced protein with tetratricopeptide repeats 2	gene	DOID:0080600	COVID-19		ISO	RGD:1317209	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1307804	Ifit2	interferon-induced protein with tetratricopeptide repeats 2	gene	DOID:9001488	Human Influenza		ISO	RGD:1317209	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1307806	Upk1b	uroplakin 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307806	Upk1b	uroplakin 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1317213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307806	Upk1b	uroplakin 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307806	Upk1b	uroplakin 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307806	Upk1b	uroplakin 1B	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317213	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25330770
1307807	Rnf19a	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307807	Rnf19a	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:1909	melanoma		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307807	Rnf19a	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:2377	multiple sclerosis		ISO	RGD:1317214	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
1307807	Rnf19a	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:3070	high grade glioma		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307807	Rnf19a	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307807	Rnf19a	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317214	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307807	Rnf19a	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307807	Rnf19a	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307807	Rnf19a	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307807	Rnf19a	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307809	Chchd5	coiled-coil-helix-coiled-coil-helix domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1317218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307809	Chchd5	coiled-coil-helix-coiled-coil-helix domain containing 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307809	Chchd5	coiled-coil-helix-coiled-coil-helix domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307809	Chchd5	coiled-coil-helix-coiled-coil-helix domain containing 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307809	Chchd5	coiled-coil-helix-coiled-coil-helix domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307810	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:0080006	bone development disease		ISO	RGD:1317220	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17567669
1307810	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307810	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307810	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307810	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307810	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307810	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307810	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307810	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307810	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1317220	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17567669
1307810	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307810	Itgb1bp1	integrin subunit beta 1 binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307811	Spc25	SPC25 component of NDC80 kinetochore complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307811	Spc25	SPC25 component of NDC80 kinetochore complex	gene	DOID:1115	sarcoma		ISO	RGD:1606531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307811	Spc25	SPC25 component of NDC80 kinetochore complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1606531	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307811	Spc25	SPC25 component of NDC80 kinetochore complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307811	Spc25	SPC25 component of NDC80 kinetochore complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307811	Spc25	SPC25 component of NDC80 kinetochore complex	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307811	Spc25	SPC25 component of NDC80 kinetochore complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606531	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307811	Spc25	SPC25 component of NDC80 kinetochore complex	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307811	Spc25	SPC25 component of NDC80 kinetochore complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307812	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307812	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:10534	stomach cancer		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307812	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307812	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:1324	lung cancer		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307812	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:1909	melanoma		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307812	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:3070	high grade glioma		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307812	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307812	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307812	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307812	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1343879	D	RGD:8554872	20190409	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	
1307812	Supt20h	SPT20 homolog, SAGA complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:0060058	lymphoma		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:10534	stomach cancer		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:1324	lung cancer		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1317224	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:17353921
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:1909	melanoma		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:3275	thymoma		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:4362	cervical cancer		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:5041	esophageal cancer		ISO	RGD:1317224	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1317224	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307813	Dnajc10	DnaJ heat shock protein family (Hsp40) member C10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:1115	sarcoma		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:1324	lung cancer		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:1909	melanoma		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:2907	Goldenhar syndrome		ISO	RGD:1606215	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Craniofacial microsomia 1	PMID:25741868
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1606215	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307814	Zyg11b	zyg-11 family member B, cell cycle regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:0050840	cervical dystonia		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:0060260	ptosis		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:0060319	cardiac arrest		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:0060935	infantile hypotonia with psychomotor retardation and characteristic facies-3		ISO	RGD:1606987	D	RGD:7240710	20190315	OMIM			
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:0060935	infantile hypotonia with psychomotor retardation and characteristic facies-3		ISO	RGD:1606987	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 | ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy | ClinVar Annotator: match by term: TBCK-related condition | ClinVar Annotator: match by term: TBCK-related disorders	PMID:16199547|PMID:17576681|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:27275012|PMID:28492532|PMID:29283439|PMID:30103036|PMID:30542205|PMID:30577886|PMID:30898414|PMID:31618753|PMID:31690835|PMID:32190976|PMID:32576985|PMID:34298581|PMID:34816123|PMID:36273129|PMID:36317458|PMID:36703223|PMID:38074073|PMID:9536098
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:0080833	laryngomalacia		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:16199547|PMID:25741868|PMID:27040692|PMID:28492532|PMID:30103036|PMID:32190976|PMID:32576985|PMID:36317458
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:0111682	cystic renal dysplasia		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic renal dysplasia	PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:30103036
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:1059	intellectual disability		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16199547|PMID:25741868|PMID:27040692|PMID:28492532|PMID:30103036
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:10591	pre-eclampsia		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preeclampsia	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:10908	hydrocephalus		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:1115	sarcoma		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:11772	leukocoria		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukocoria	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:16199547|PMID:25741868|PMID:27040692|PMID:28492532|PMID:30103036|PMID:32190976|PMID:32576985|PMID:36317458
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:16199547|PMID:25741868|PMID:27040692|PMID:28492532|PMID:30103036|PMID:32190976|PMID:32576985|PMID:36317458
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:1324	lung cancer		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:1432	blindness		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:30103036
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:1459	hypothyroidism		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:16199547|PMID:25741868|PMID:27040692|PMID:28492532|PMID:30103036
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:1573	communicating hydrocephalus		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Communicating hydrocephalus	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:1673	pneumothorax		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spontaneous pneumothorax	PMID:16199547|PMID:25741868|PMID:27040692|PMID:28492532|PMID:30103036|PMID:32190976|PMID:32576985|PMID:36317458
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:1826	epilepsy		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:27275012|PMID:28492532|PMID:30103036|PMID:32190976|PMID:32576985|PMID:36317458
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:27040691|PMID:27040692|PMID:27275012|PMID:28492532|PMID:30103036
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:30103036
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:2340	craniosynostosis		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868|PMID:27040691|PMID:27040692|PMID:27275012|PMID:28492532|PMID:30103036
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:423	myopathy		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:30103036
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:540	strabismus		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:30103036|PMID:30542205
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:630	genetic disease		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:25741868|PMID:27040692|PMID:28492532|PMID:30103036|PMID:32959227
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:8741	seborrheic dermatitis		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seborrheic dermatitis	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9000052	Breech Presentation		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breech presentation	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:16199547|PMID:25741868|PMID:27040692|PMID:28492532|PMID:30103036|PMID:32190976|PMID:32576985|PMID:36317458
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9001510	Funnel Chest		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9003133	Hypertelorism		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:27040691|PMID:27040692|PMID:27275012|PMID:28492532|PMID:30103036
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9003507	Premature Birth		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606987	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9004865	Nuchal Cord		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nuchal cord	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9004898	Jaundice		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:16199547|PMID:25741868|PMID:27040692|PMID:28492532|PMID:30103036|PMID:32190976|PMID:32576985|PMID:36317458
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:27040691|PMID:27040692|PMID:27275012|PMID:28492532|PMID:30103036
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:27275012|PMID:28492532|PMID:30103036
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1606987	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:30103036|PMID:36273129
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9006617	Fatigue		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9007573	Flatfoot		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:16199547|PMID:25741868|PMID:27040692|PMID:28492532|PMID:30103036|PMID:32190976|PMID:32576985|PMID:36317458
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9007661	Dwarfism		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:27275012|PMID:28492532|PMID:30103036|PMID:32190976|PMID:32576985|PMID:36317458
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9008988	Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	PMID:25741868|PMID:27040691|PMID:27040692|PMID:27275012|PMID:28492532|PMID:30103036
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:16199547|PMID:25741868|PMID:27040692|PMID:28492532|PMID:30103036|PMID:32190976|PMID:32576985|PMID:36317458
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:16199547|PMID:25741868|PMID:27040692|PMID:28492532|PMID:30103036|PMID:32190976|PMID:32576985|PMID:36317458
1307816	Tbck	TBC1 domain containing kinase	gene	DOID:9840	esotropia		ISO	RGD:1606987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:0110619	primary ciliary dyskinesia 33		ISO	RGD:1317230	D	RGD:7240710	20190315	OMIM			
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:0110619	primary ciliary dyskinesia 33		ISO	RGD:1317230	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 33 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 33, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 33 | ClinVar Annotator: match by term: GAS8-related disorder | ClinVar Annotator: match by term: Primary ciliary dyskinesia 33	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26387594|PMID:27120127|PMID:27472056|PMID:28492532|PMID:9536098
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:0110619	primary ciliary dyskinesia 33		ISS	RGD:1317231	D	RGD:13592920	20230718	MouseDO		OMIM:616726	
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1317230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1317230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:1909	melanoma		ISO	RGD:1317230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:3275	thymoma		ISO	RGD:1317230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1317230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:16199547|PMID:26387594|PMID:28492532
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1317230	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:28492532
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:630	genetic disease		ISO	RGD:1317230	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1307817	Drc4	dynein regulatory complex subunit 4	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1317230	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:25741868|PMID:28492532
1307819	Cela3b	chymotrypsin like elastase 3B	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:1317234	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14687815
1307819	Cela3b	chymotrypsin like elastase 3B	gene	DOID:4362	cervical cancer		ISO	RGD:1317234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307819	Cela3b	chymotrypsin like elastase 3B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0050581	brachydactyly		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:37091313
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317236	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0110330	Leber congenital amaurosis 13		ISO	RGD:1317236	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 13	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:30372751|PMID:30718709|PMID:9536098
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0110330	Leber congenital amaurosis 13		ISO	RGD:1317236	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 13	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:31630094|PMID:31801355|PMID:31816670|PMID:32014858|PMID:32141364|PMID:32322264|PMID:32790509|PMID:34001834|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36284670|PMID:36690427|PMID:36909829|PMID:9536098
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0110768	hereditary spastic paraplegia 15		ISO	RGD:1317236	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0110768	hereditary spastic paraplegia 15		ISO	RGD:1317236	D	RGD:7240710	20130221	OMIM			
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0110768	hereditary spastic paraplegia 15		ISO	RGD:1317236	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Kjellin syndrome | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA AND RETINAL DEGENERATION | ClinVar Annotator: match by term: ZFYVE26-related condition	PMID:16199547|PMID:17576681|PMID:17661097|PMID:18394578|PMID:19805727|PMID:19917823|PMID:23733235|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25497598|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26492578|PMID:26633545|PMID:26944241|PMID:27544497|PMID:28213671|PMID:28492532|PMID:29246610|PMID:29858556|PMID:30555096|PMID:31048186|PMID:31069529|PMID:31690835|PMID:33144682|PMID:36315648|PMID:37091313|PMID:6944241|PMID:9536098
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0110768	hereditary spastic paraplegia 15		ISS	RGD:1317237	D	RGD:13592920	20230718	MouseDO		OMIM:270700	
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:0111428	essential tremor 1		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868|PMID:37091313
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:10534	stomach cancer		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317236	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32141364|PMID:32790509|PMID:34001834
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:1324	lung cancer		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:1826	epilepsy		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18394578|PMID:19805727|PMID:25741868|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:1909	melanoma		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317236	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1317236	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:28832565|PMID:31108397|PMID:6944241|PMID:9536098
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1317236	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26944241|PMID:28492532|PMID:28832565|PMID:29246610|PMID:29590070|PMID:31108397|PMID:33144682|PMID:36315648|PMID:37091313|PMID:6944241|PMID:9536098
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1317236	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24088041|PMID:25133958|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26944241|PMID:28213671|PMID:28492532|PMID:28832565|PMID:29246610|PMID:31048186|PMID:33144682|PMID:36315648|PMID:37091313|PMID:6944241|PMID:9536098
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:3275	thymoma		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:4362	cervical cancer		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:5041	esophageal cancer		ISO	RGD:1317236	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317236	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:607	paraplegia		ISO	RGD:1317236	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:17576681|PMID:18394578|PMID:19084844|PMID:19763152|PMID:19805727|PMID:19917823|PMID:20307669|PMID:21462267|PMID:22406018|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25497598|PMID:25741868|PMID:26467025|PMID:26492578|PMID:26633545|PMID:26944241|PMID:27217339|PMID:28213671|PMID:28492532|PMID:29246610|PMID:29254223|PMID:29858556|PMID:29908077|PMID:30555096|PMID:31048186|PMID:31069529|PMID:33144682|PMID:36315648|PMID:36964972|PMID:37041082|PMID:37091313|PMID:6944241|PMID:9536098
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:630	genetic disease		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:18394578|PMID:19805727|PMID:24030950|PMID:24833714|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29254223|PMID:29908077|PMID:31069529|PMID:37091313
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:6364	migraine		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:18394578|PMID:19805727|PMID:25741868|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317236	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9000053	Headache		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:18394578|PMID:19805727|PMID:25741868|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9000641	Pain		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:18394578|PMID:19805727|PMID:25741868|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:26467025|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9006617	Fatigue		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:18394578|PMID:19805727|PMID:25741868|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317236	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:26467025|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:37091313
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868|PMID:37091313
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
1307820	Zfyve26	zinc finger FYVE-type containing 26	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
1307821	Mob3c	MOB kinase activator 3C	gene	DOID:10534	stomach cancer		ISO	RGD:1317238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307821	Mob3c	MOB kinase activator 3C	gene	DOID:1909	melanoma		ISO	RGD:1317238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307823	Nfu1	NFU1 iron-sulfur cluster scaffold	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307823	Nfu1	NFU1 iron-sulfur cluster scaffold	gene	DOID:0070330	multiple mitochondrial dysfunctions syndrome		ISO	RGD:1317241	D	RGD:11554173	20180130	CTD		CTD Direct Evidence: marker/mechanism	
1307823	Nfu1	NFU1 iron-sulfur cluster scaffold	gene	DOID:0070645	hereditary spastic paraplegia 93		ISO	RGD:1317241	D	RGD:7240710	20240925	OMIM			
1307823	Nfu1	NFU1 iron-sulfur cluster scaffold	gene	DOID:0070645	hereditary spastic paraplegia 93		ISO	RGD:1317241	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 93, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 93, autosomal recessive	PMID:25477904|PMID:25741868|PMID:28492532|PMID:28803783|PMID:36256512
1307823	Nfu1	NFU1 iron-sulfur cluster scaffold	gene	DOID:0080133	multiple mitochondrial dysfunctions syndrome 1		ISO	RGD:1317241	D	RGD:7240710	20180124	OMIM			
1307823	Nfu1	NFU1 iron-sulfur cluster scaffold	gene	DOID:0080133	multiple mitochondrial dysfunctions syndrome 1		ISO	RGD:1317241	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 | ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 1 | ClinVar Annotator: match by term: NFU1-related condition	PMID:16199547|PMID:17576681|PMID:21944046|PMID:22077971|PMID:25640679|PMID:25741868|PMID:25758857|PMID:25918518|PMID:28161430|PMID:28470589|PMID:28492532|PMID:28803783|PMID:29441221|PMID:31461310|PMID:31970900|PMID:32776106|PMID:34440194|PMID:40597352|PMID:9536098
1307823	Nfu1	NFU1 iron-sulfur cluster scaffold	gene	DOID:1324	lung cancer		ISO	RGD:1317241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307823	Nfu1	NFU1 iron-sulfur cluster scaffold	gene	DOID:630	genetic disease		ISO	RGD:1317241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36256512
1307823	Nfu1	NFU1 iron-sulfur cluster scaffold	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307823	Nfu1	NFU1 iron-sulfur cluster scaffold	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1307824	Polr1f	RNA polymerase I subunit F	gene	DOID:1324	lung cancer		ISO	RGD:1317243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307824	Polr1f	RNA polymerase I subunit F	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307825	Kif13a	kinesin family member 13A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307825	Kif13a	kinesin family member 13A	gene	DOID:0060058	lymphoma		ISO	RGD:1317245	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307825	Kif13a	kinesin family member 13A	gene	DOID:0060135	apraxia		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:25741868
1307825	Kif13a	kinesin family member 13A	gene	DOID:10534	stomach cancer		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307825	Kif13a	kinesin family member 13A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307825	Kif13a	kinesin family member 13A	gene	DOID:1324	lung cancer		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307825	Kif13a	kinesin family member 13A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307825	Kif13a	kinesin family member 13A	gene	DOID:2394	ovarian cancer		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307825	Kif13a	kinesin family member 13A	gene	DOID:4362	cervical cancer		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307825	Kif13a	kinesin family member 13A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307825	Kif13a	kinesin family member 13A	gene	DOID:5041	esophageal cancer		ISO	RGD:1317245	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307825	Kif13a	kinesin family member 13A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307825	Kif13a	kinesin family member 13A	gene	DOID:6039	uveal melanoma		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307825	Kif13a	kinesin family member 13A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307825	Kif13a	kinesin family member 13A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307825	Kif13a	kinesin family member 13A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307825	Kif13a	kinesin family member 13A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307825	Kif13a	kinesin family member 13A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1317247	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:15592994|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28255779|PMID:28492532|PMID:9536098
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:0080440	developmental and epileptic encephalopathy 3		ISO	RGD:1317247	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:0080440	developmental and epileptic encephalopathy 3		ISO	RGD:1317247	D	RGD:7240710	20130221	OMIM			
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:0080440	developmental and epileptic encephalopathy 3		ISO	RGD:1317247	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 | ClinVar Annotator: match by term: SLC25A22-related disorder	PMID:15592994|PMID:16199547|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:27864847|PMID:28454995|PMID:28492532|PMID:31054490|PMID:31589614|PMID:38221827
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1317247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:15592994|PMID:17576681|PMID:19780765|PMID:25741868|PMID:28255779|PMID:28492532|PMID:9536098
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:10283	prostate cancer		ISO	RGD:1317247	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:10283	prostate cancer		ISO	RGD:1317247	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:1324	lung cancer		ISO	RGD:1317247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:1826	epilepsy		ISO	RGD:1317247	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:1826	epilepsy		ISO	RGD:1317247	D	RGD:8554872	20221213	ClinVar		ClinVar Annotator: match by term: seizures	PMID:28492532
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:1909	melanoma		ISO	RGD:1317247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1317247	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy	PMID:15592994|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:27864847|PMID:28454995|PMID:28492532|PMID:29924869
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1317247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Early Myoclonic Encephalopathy	PMID:25741868|PMID:28492532
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:4362	cervical cancer		ISO	RGD:1317247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:630	genetic disease		ISO	RGD:1317247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:18414213|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:9536098
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1317247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307826	Slc25a22	solute carrier family 25 member 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307827	Nup133	nucleoporin 133	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307827	Nup133	nucleoporin 133	gene	DOID:0061291	Galloway-Mowat syndrome 8		ISO	RGD:1317249	D	RGD:7240710	20190315	OMIM			
1307827	Nup133	nucleoporin 133	gene	DOID:0061291	Galloway-Mowat syndrome 8		ISO	RGD:1317249	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 | ClinVar Annotator: match by term: NUP133-related condition	PMID:25741868|PMID:28492532
1307827	Nup133	nucleoporin 133	gene	DOID:0080393	nephrotic syndrome type 18		ISO	RGD:1317249	D	RGD:7240710	20190315	OMIM			
1307827	Nup133	nucleoporin 133	gene	DOID:0080393	nephrotic syndrome type 18		ISO	RGD:1317249	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 18 | ClinVar Annotator: match by term: Nephrotic syndrome, type 18	PMID:25741868|PMID:28492532|PMID:30179222
1307827	Nup133	nucleoporin 133	gene	DOID:0080694	Galloway-Mowat syndrome		ISO	RGD:1317249	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Galloway-Mowat Syndrome	PMID:25741868|PMID:28106320|PMID:28492532
1307827	Nup133	nucleoporin 133	gene	DOID:10534	stomach cancer		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307827	Nup133	nucleoporin 133	gene	DOID:1115	sarcoma		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307827	Nup133	nucleoporin 133	gene	DOID:1324	lung cancer		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307827	Nup133	nucleoporin 133	gene	DOID:1909	melanoma		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307827	Nup133	nucleoporin 133	gene	DOID:3275	thymoma		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307827	Nup133	nucleoporin 133	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307827	Nup133	nucleoporin 133	gene	DOID:4362	cervical cancer		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307827	Nup133	nucleoporin 133	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307827	Nup133	nucleoporin 133	gene	DOID:5041	esophageal cancer		ISO	RGD:1317249	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307827	Nup133	nucleoporin 133	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307827	Nup133	nucleoporin 133	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307827	Nup133	nucleoporin 133	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307827	Nup133	nucleoporin 133	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307827	Nup133	nucleoporin 133	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307827	Nup133	nucleoporin 133	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307828	Irf7	interferon regulatory factor 7	gene	DOID:0080600	COVID-19		ISO	RGD:1317251	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1307828	Irf7	interferon regulatory factor 7	gene	DOID:0111969	immunodeficiency 39		ISO	RGD:1317251	D	RGD:7240710	20170503	OMIM			
1307828	Irf7	interferon regulatory factor 7	gene	DOID:0111969	immunodeficiency 39		ISO	RGD:1317251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IRF7-related condition | ClinVar Annotator: match by term: Immunodeficiency 39	PMID:16199547|PMID:17576681|PMID:25741868|PMID:25814066|PMID:28492532|PMID:31172279|PMID:32972995|PMID:33077954|PMID:33225392|PMID:35670811|PMID:37097753|PMID:9536098
1307828	Irf7	interferon regulatory factor 7	gene	DOID:12155	lymphocytic choriomeningitis		ISO	RGD:1317252	D	RGD:124715479|PMID:24760883	20210326	RGD			
1307828	Irf7	interferon regulatory factor 7	gene	DOID:12155	lymphocytic choriomeningitis	disease_progression	ISO	RGD:1317252	D	RGD:124715479|PMID:24760883	20210326	RGD			
1307828	Irf7	interferon regulatory factor 7	gene	DOID:1909	melanoma		ISO	RGD:1317251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307828	Irf7	interferon regulatory factor 7	gene	DOID:3070	high grade glioma		ISO	RGD:1317251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307828	Irf7	interferon regulatory factor 7	gene	DOID:3275	thymoma		ISO	RGD:1317251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307828	Irf7	interferon regulatory factor 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1307828	Irf7	interferon regulatory factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307828	Irf7	interferon regulatory factor 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307828	Irf7	interferon regulatory factor 7	gene	DOID:9001488	Human Influenza		ISO	RGD:1317251	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1307828	Irf7	interferon regulatory factor 7	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1307828	Irf7	interferon regulatory factor 7	gene	DOID:9005372	Inflammation		ISO	RGD:1317251	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20513754
1307828	Irf7	interferon regulatory factor 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307828	Irf7	interferon regulatory factor 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1307830	Odr4	odr-4 GPCR localization factor homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307830	Odr4	odr-4 GPCR localization factor homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307830	Odr4	odr-4 GPCR localization factor homolog	gene	DOID:0060058	lymphoma		ISO	RGD:1346906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307830	Odr4	odr-4 GPCR localization factor homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1346906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307830	Odr4	odr-4 GPCR localization factor homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307830	Odr4	odr-4 GPCR localization factor homolog	gene	DOID:1324	lung cancer		ISO	RGD:1346906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307830	Odr4	odr-4 GPCR localization factor homolog	gene	DOID:3275	thymoma		ISO	RGD:1346906	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307830	Odr4	odr-4 GPCR localization factor homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1346906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307830	Odr4	odr-4 GPCR localization factor homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1346906	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307830	Odr4	odr-4 GPCR localization factor homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307830	Odr4	odr-4 GPCR localization factor homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307830	Odr4	odr-4 GPCR localization factor homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307832	Nelfb	negative elongation factor complex member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307832	Nelfb	negative elongation factor complex member B	gene	DOID:10534	stomach cancer		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307832	Nelfb	negative elongation factor complex member B	gene	DOID:1909	melanoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307832	Nelfb	negative elongation factor complex member B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307832	Nelfb	negative elongation factor complex member B	gene	DOID:3275	thymoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307832	Nelfb	negative elongation factor complex member B	gene	DOID:4362	cervical cancer		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307832	Nelfb	negative elongation factor complex member B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307832	Nelfb	negative elongation factor complex member B	gene	DOID:5041	esophageal cancer		ISO	RGD:1603677	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307832	Nelfb	negative elongation factor complex member B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307832	Nelfb	negative elongation factor complex member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307832	Nelfb	negative elongation factor complex member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307832	Nelfb	negative elongation factor complex member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307833	Nrsn1	neurensin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307833	Nrsn1	neurensin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317257	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
1307833	Nrsn1	neurensin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307835	Wsb1	WD repeat and SOCS box-containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307835	Wsb1	WD repeat and SOCS box-containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1317261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307835	Wsb1	WD repeat and SOCS box-containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1317261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307835	Wsb1	WD repeat and SOCS box-containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307835	Wsb1	WD repeat and SOCS box-containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307835	Wsb1	WD repeat and SOCS box-containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317261	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307835	Wsb1	WD repeat and SOCS box-containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307835	Wsb1	WD repeat and SOCS box-containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307835	Wsb1	WD repeat and SOCS box-containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307835	Wsb1	WD repeat and SOCS box-containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307836	Zfp212	Zinc finger protein 212	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307836	Zfp212	Zinc finger protein 212	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317263	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307836	Zfp212	Zinc finger protein 212	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307836	Zfp212	Zinc finger protein 212	gene	DOID:1324	lung cancer		ISO	RGD:1317263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1307836	Zfp212	Zinc finger protein 212	gene	DOID:1909	melanoma		ISO	RGD:1317263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307836	Zfp212	Zinc finger protein 212	gene	DOID:2394	ovarian cancer		ISO	RGD:1317263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307836	Zfp212	Zinc finger protein 212	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307836	Zfp212	Zinc finger protein 212	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307836	Zfp212	Zinc finger protein 212	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307836	Zfp212	Zinc finger protein 212	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1307836	Zfp212	Zinc finger protein 212	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307836	Zfp212	Zinc finger protein 212	gene	DOID:9256	colorectal cancer		ISO	RGD:1317263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	
1307840	Pkp4	plakophilin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307840	Pkp4	plakophilin 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317269	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1307840	Pkp4	plakophilin 4	gene	DOID:0060058	lymphoma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307840	Pkp4	plakophilin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307840	Pkp4	plakophilin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307840	Pkp4	plakophilin 4	gene	DOID:1115	sarcoma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307840	Pkp4	plakophilin 4	gene	DOID:1324	lung cancer		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307840	Pkp4	plakophilin 4	gene	DOID:1909	melanoma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307840	Pkp4	plakophilin 4	gene	DOID:3070	high grade glioma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307840	Pkp4	plakophilin 4	gene	DOID:3275	thymoma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307840	Pkp4	plakophilin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307840	Pkp4	plakophilin 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307840	Pkp4	plakophilin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1317269	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307840	Pkp4	plakophilin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307840	Pkp4	plakophilin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307840	Pkp4	plakophilin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307841	Mfap4	microfibril associated protein 4	gene	DOID:1909	melanoma		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307841	Mfap4	microfibril associated protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307841	Mfap4	microfibril associated protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307841	Mfap4	microfibril associated protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307841	Mfap4	microfibril associated protein 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317270	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307841	Mfap4	microfibril associated protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307841	Mfap4	microfibril associated protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307842	Prcp	prolylcarboxypeptidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307842	Prcp	prolylcarboxypeptidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307842	Prcp	prolylcarboxypeptidase	gene	DOID:3454	brain infarction		IEP		D	RGD:329845556|PMID:23251410	20230526	RGD		mRNA:increased expression:brain (rat)	
1307842	Prcp	prolylcarboxypeptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307842	Prcp	prolylcarboxypeptidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307842	Prcp	prolylcarboxypeptidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:1115	sarcoma		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317273	D	RGD:8554872	20180807	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:26489029
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:1312	focal segmental glomerulosclerosis		IEP		D	RGD:8693412|PMID:19350281	20140715	RGD			
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:3275	thymoma		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:37	skin disease		ISO	RGD:1317273	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:9000998	Brain Injuries		IEP		D	RGD:8693413|PMID:21545521	20140715	RGD		protein:decreased expression:brain, nucleus	
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1317273	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1307843	Pias1	protein inhibitor of activated STAT, 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604830	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:0112204	developmental and epileptic encephalopathy 68		ISO	RGD:1604830	D	RGD:7240710	20190315	OMIM			
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:0112204	developmental and epileptic encephalopathy 68		ISO	RGD:1604830	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 68 | ClinVar Annotator: match by term: TRAK1-related condition	PMID:25741868|PMID:28492532|PMID:29846532
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:13366	Stiff-Person syndrome		ISS	RGD:1317275	D	RGD:13592920	20180518	MouseDO		OMIM:184850	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:1824	status epilepticus		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:1909	melanoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:3275	thymoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604830	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:5419	schizophrenia		ISO	RGD:1604830	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:630	genetic disease		ISO	RGD:1604830	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307844	Trak1	trafficking kinesin protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307845	Fam8a1	family with sequence similarity 8, member A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307845	Fam8a1	family with sequence similarity 8, member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307845	Fam8a1	family with sequence similarity 8, member A1	gene	DOID:3275	thymoma		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307845	Fam8a1	family with sequence similarity 8, member A1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307845	Fam8a1	family with sequence similarity 8, member A1	gene	DOID:4362	cervical cancer		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307845	Fam8a1	family with sequence similarity 8, member A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351875	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307845	Fam8a1	family with sequence similarity 8, member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307845	Fam8a1	family with sequence similarity 8, member A1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307845	Fam8a1	family with sequence similarity 8, member A1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307845	Fam8a1	family with sequence similarity 8, member A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307846	Ldlrad3	low density lipoprotein receptor class A domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307846	Ldlrad3	low density lipoprotein receptor class A domain containing 3	gene	DOID:303	substance-related disorder		ISO	RGD:1605868	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1307846	Ldlrad3	low density lipoprotein receptor class A domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605868	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307846	Ldlrad3	low density lipoprotein receptor class A domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307846	Ldlrad3	low density lipoprotein receptor class A domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1605868	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307846	Ldlrad3	low density lipoprotein receptor class A domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307846	Ldlrad3	low density lipoprotein receptor class A domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307847	Il36b	interleukin 36, beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1317278	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307847	Il36b	interleukin 36, beta	gene	DOID:9002189	High Myopia		ISO	RGD:1317278	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:10534	stomach cancer		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:1115	sarcoma		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:1324	lung cancer		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:1909	melanoma		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:3275	thymoma		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:4362	cervical cancer		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:5041	esophageal cancer		ISO	RGD:1317280	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:6039	uveal melanoma		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317280	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1307848	Usp33	ubiquitin specific peptidase 33	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307849	Zfp395	zinc finger protein 395	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307849	Zfp395	zinc finger protein 395	gene	DOID:10534	stomach cancer		ISO	RGD:1317282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307849	Zfp395	zinc finger protein 395	gene	DOID:1115	sarcoma		ISO	RGD:1317282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307849	Zfp395	zinc finger protein 395	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307849	Zfp395	zinc finger protein 395	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307849	Zfp395	zinc finger protein 395	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307849	Zfp395	zinc finger protein 395	gene	DOID:9256	colorectal cancer		ISO	RGD:1317282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307853	Pm20d2	peptidase M20 domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307853	Pm20d2	peptidase M20 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307853	Pm20d2	peptidase M20 domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307853	Pm20d2	peptidase M20 domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307853	Pm20d2	peptidase M20 domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1317289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307853	Pm20d2	peptidase M20 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317289	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307853	Pm20d2	peptidase M20 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307853	Pm20d2	peptidase M20 domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307853	Pm20d2	peptidase M20 domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307853	Pm20d2	peptidase M20 domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1317289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307854	Ssu72	SSU72 homolog, RNA polymerase II CTD phosphatase	gene	DOID:0110944	autosomal recessive osteopetrosis 4		ISO	RGD:1605688	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: autosomal recessive osteopetrosis 4	PMID:25741868
1307854	Ssu72	SSU72 homolog, RNA polymerase II CTD phosphatase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307854	Ssu72	SSU72 homolog, RNA polymerase II CTD phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:1605688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307854	Ssu72	SSU72 homolog, RNA polymerase II CTD phosphatase	gene	DOID:409	liver disease		ISS	RGD:1552892	D	RGD:13592920	20240530	MouseDO			
1307854	Ssu72	SSU72 homolog, RNA polymerase II CTD phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307854	Ssu72	SSU72 homolog, RNA polymerase II CTD phosphatase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605688	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307854	Ssu72	SSU72 homolog, RNA polymerase II CTD phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317292	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:12690580|PMID:16014653|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17576681|PMID:17595294|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24669931|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:8872480|PMID:9536098
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317292	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17576681|PMID:17595294|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32028661|PMID:32181591|PMID:32376792|PMID:32403337|PMID:8872480|PMID:9536098
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317292	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17576681|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31628756|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:32376792|PMID:32403337|PMID:33067402|PMID:8872480|PMID:9536098
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317292	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17576681|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31628756|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:32376792|PMID:32403337|PMID:33067402|PMID:8872480|PMID:9536098
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317292	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17576681|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31628756|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:32376792|PMID:32403337|PMID:33067402|PMID:35304488|PMID:8872480|PMID:9536098
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317292	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17576681|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26000875|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31628756|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:32376792|PMID:32403337|PMID:33067402|PMID:35304488|PMID:8872480|PMID:9536098
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317292	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17576681|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26000875|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31628756|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32028661|PMID:32181591|PMID:32376792|PMID:32403337|PMID:33067402|PMID:34813128|PMID:35304488|PMID:36738734|PMID:37091313|PMID:8872480|PMID:9536098
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317292	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17576681|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26000875|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28251916|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31628756|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32028661|PMID:32181591|PMID:32376792|PMID:32403337|PMID:32909314|PMID:33067402|PMID:33381078|PMID:34275688|PMID:34813128|PMID:35304488|PMID:36738734|PMID:37091313|PMID:37273706|PMID:39825153|PMID:8872480|PMID:9536098
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:17035524|PMID:17101916|PMID:17576681|PMID:17595294|PMID:20301420|PMID:21737751|PMID:24078732|PMID:24604904|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26000875|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:31628756|PMID:31785789|PMID:31985473|PMID:32028661|PMID:32376792|PMID:32403337|PMID:33381078|PMID:34275688|PMID:34813128|PMID:35304488|PMID:35332613|PMID:36738734|PMID:8872480|PMID:9536098
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317292	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:17035524|PMID:17101916|PMID:17576681|PMID:17595294|PMID:21737751|PMID:24078732|PMID:24604904|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26000875|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:31628756|PMID:31785789|PMID:31985473|PMID:32376792|PMID:32403337|PMID:33381078|PMID:34275688|PMID:35304488|PMID:35332613|PMID:36738734|PMID:37091313|PMID:8872480|PMID:9536098
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:17035524|PMID:17101916|PMID:17576681|PMID:17595294|PMID:21737751|PMID:24604904|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26000875|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:31628756|PMID:31785789|PMID:31985473|PMID:32028661|PMID:32376792|PMID:32403337|PMID:33381078|PMID:34275688|PMID:35304488|PMID:35332613|PMID:36738734|PMID:8872480|PMID:9536098
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:32028661
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0110164	Charcot-Marie-Tooth disease type 2D		ISO	RGD:1317292	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0110164	Charcot-Marie-Tooth disease type 2D		ISO	RGD:1317292	D	RGD:7240710	20130221	OMIM			
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0110164	Charcot-Marie-Tooth disease type 2D		ISO	RGD:1317292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2D	PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:16982418|PMID:17035524|PMID:17101916|PMID:17142907|PMID:17529987|PMID:17544401|PMID:17595294|PMID:19329989|PMID:19470612|PMID:20152552|PMID:21737751|PMID:21902652|PMID:22462675|PMID:23427196|PMID:24604904|PMID:24669931|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25525159|PMID:25614874|PMID:25621899|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26797133|PMID:27008886|PMID:27352040|PMID:27582484|PMID:27790088|PMID:27876679|PMID:28471432|PMID:28492532|PMID:28594869|PMID:29288497|PMID:29520015|PMID:30083128|PMID:30643024|PMID:32376792|PMID:32403337|PMID:33236345|PMID:33753480|PMID:34426522|PMID:34680913|PMID:34942918|PMID:36738734|PMID:36833180|PMID:37273706|PMID:8872480
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0110164	Charcot-Marie-Tooth disease type 2D		ISS	RGD:1317293	D	RGD:13592920	20230718	MouseDO		OMIM:601472	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:28492532|PMID:33381078
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0111202	autosomal dominant distal hereditary motor neuronopathy 14		ISO	RGD:1317292	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Genetic motor neuron disease	PMID:25635128
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0111203	autosomal dominant distal hereditary motor neuronopathy 5		ISO	RGD:1317292	D	RGD:11554173	20190702	CTD		CTD Direct Evidence: marker/mechanism	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0111203	autosomal dominant distal hereditary motor neuronopathy 5		ISO	RGD:1317292	D	RGD:7240710	20240131	OMIM			
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:0111203	autosomal dominant distal hereditary motor neuronopathy 5		ISO	RGD:1317292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5 | ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A	PMID:12690580|PMID:16014653|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17595294|PMID:24604904|PMID:24627108|PMID:25168514|PMID:25326637|PMID:25476837|PMID:25741868|PMID:26467025|PMID:26503042|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28492532|PMID:28594869|PMID:29858556|PMID:31827005|PMID:31832804|PMID:32376792|PMID:32403337|PMID:33381078
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1317292	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26467025|PMID:26503042|PMID:26517670|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:8541851|PMID:8872480|PMID:9879677
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1317292	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26517670|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:8541851|PMID:8872480|PMID:9879677
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1317292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:17035524|PMID:17101916|PMID:17595294|PMID:19329989|PMID:21737751|PMID:23279345|PMID:24604904|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26517670|PMID:27008886|PMID:27582484|PMID:28492532|PMID:28594869|PMID:29520015|PMID:35304488|PMID:36738734|PMID:8872480
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:11830	myopia		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1317292	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	PMID:12690580|PMID:16014653|PMID:16534118|PMID:16769947|PMID:17101916|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:24604904|PMID:25168514|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29648643|PMID:31827005|PMID:31832804|PMID:31985473
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1317292	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy	PMID:12690580|PMID:16014653|PMID:16534118|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:24604904|PMID:24627108|PMID:25168514|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28251916|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29648643|PMID:29858556|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32028661|PMID:32376792|PMID:32909314|PMID:34813128
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1317292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Distal Spinal Muscular Atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy	PMID:12690580|PMID:17101916|PMID:17595294|PMID:17663003|PMID:19329989|PMID:22730194|PMID:24604904|PMID:25168514|PMID:25476837|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28492532|PMID:28594869|PMID:32376792
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:1389	polyneuropathy		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868|PMID:28492532
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:231	motor neuron disease		ISO	RGD:1317292	D	RGD:8554872	20180807	ClinVar		ClinVar Annotator: match by term: Motor neuron disease	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:2841	asthma		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317292	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:25614874|PMID:28492532
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1317292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:26467025|PMID:28492532|PMID:35304488
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:7319	axonal neuropathy		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:25741868|PMID:28492532
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:767	muscular atrophy		ISO	RGD:1317292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868|PMID:28492532|PMID:32028661
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:9004357	Spinal Muscular Atrophy, Infantile, James Type		ISO	RGD:1317292	D	RGD:7240710	20201021	OMIM			
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:9004357	Spinal Muscular Atrophy, Infantile, James Type		ISO	RGD:1317292	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE | ClinVar Annotator: match by term: Spinal muscular atrophy, infantile, James type	PMID:17101916|PMID:22462675|PMID:24604904|PMID:25168514|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32181591
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1317292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:17101916|PMID:24604904|PMID:25476837|PMID:25741868|PMID:28492532|PMID:32028661
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:9007736	Vertigo		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1317292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:28492532
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:9008421	Epistaxis		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:9120	amyloidosis		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyloidosis	PMID:25741868|PMID:28492532
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:930	orbital disease		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:17101916|PMID:24604904|PMID:25476837|PMID:25741868|PMID:28492532
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:9834	hyperopia		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1307856	Gars1	glycyl-tRNA synthetase 1	gene	DOID:9970	obesity		ISO	RGD:1317292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1307857	Rnf121	ring finger protein 121	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307857	Rnf121	ring finger protein 121	gene	DOID:1115	sarcoma		ISO	RGD:1317294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307857	Rnf121	ring finger protein 121	gene	DOID:1324	lung cancer		ISO	RGD:1317294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307857	Rnf121	ring finger protein 121	gene	DOID:4362	cervical cancer		ISO	RGD:1317294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307857	Rnf121	ring finger protein 121	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307857	Rnf121	ring finger protein 121	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307857	Rnf121	ring finger protein 121	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307857	Rnf121	ring finger protein 121	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307857	Rnf121	ring finger protein 121	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307857	Rnf121	ring finger protein 121	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307857	Rnf121	ring finger protein 121	gene	DOID:9256	colorectal cancer		ISO	RGD:1317294	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307858	Trim29	tripartite motif-containing 29	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307858	Trim29	tripartite motif-containing 29	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307858	Trim29	tripartite motif-containing 29	gene	DOID:3070	high grade glioma		ISO	RGD:1317296	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30929997
1307858	Trim29	tripartite motif-containing 29	gene	DOID:5041	esophageal cancer		ISO	RGD:1317296	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307858	Trim29	tripartite motif-containing 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307858	Trim29	tripartite motif-containing 29	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307859	Fbxw12	F-box and WD repeat domain containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307859	Fbxw12	F-box and WD repeat domain containing 12	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1352427	D	RGD:11554173	20230606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36073553
1307861	Exosc5	exosome component 5	gene	DOID:1324	lung cancer		ISO	RGD:1317301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307861	Exosc5	exosome component 5	gene	DOID:4362	cervical cancer		ISO	RGD:1317301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307861	Exosc5	exosome component 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307861	Exosc5	exosome component 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317301	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307861	Exosc5	exosome component 5	gene	DOID:630	genetic disease		ISO	RGD:1317301	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307861	Exosc5	exosome component 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307861	Exosc5	exosome component 5	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1317301	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1307861	Exosc5	exosome component 5	gene	DOID:9000918	Disease Progression		ISO	RGD:1317301	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1307861	Exosc5	exosome component 5	gene	DOID:9003258	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS		ISO	RGD:1317301	D	RGD:7240710	20211208	OMIM			
1307861	Exosc5	exosome component 5	gene	DOID:9003258	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS		ISO	RGD:1317301	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS | ClinVar Annotator: match by term: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	PMID:25741868|PMID:29302074|PMID:30950035|PMID:32504085|PMID:34089229
1307861	Exosc5	exosome component 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307861	Exosc5	exosome component 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317301	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307862	Ankrd22	ankyrin repeat domain 22	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307862	Ankrd22	ankyrin repeat domain 22	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307862	Ankrd22	ankyrin repeat domain 22	gene	DOID:1115	sarcoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307862	Ankrd22	ankyrin repeat domain 22	gene	DOID:1909	melanoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307862	Ankrd22	ankyrin repeat domain 22	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307862	Ankrd22	ankyrin repeat domain 22	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307862	Ankrd22	ankyrin repeat domain 22	gene	DOID:4362	cervical cancer		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307862	Ankrd22	ankyrin repeat domain 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307862	Ankrd22	ankyrin repeat domain 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307862	Ankrd22	ankyrin repeat domain 22	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307862	Ankrd22	ankyrin repeat domain 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1317303	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:19648921|PMID:24035636|PMID:25741868
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0070137	autosomal recessive cutis laxa type IIB		ISO	RGD:1317303	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0070137	autosomal recessive cutis laxa type IIB		ISO	RGD:1317303	D	RGD:7240710	20130221	OMIM			
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0070137	autosomal recessive cutis laxa type IIB		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 2B | ClinVar Annotator: match by term: CUTIS LAXA WITH PROGEROID FEATURES | ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IIB	PMID:19576563|PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25741869|PMID:25865492|PMID:26516448|PMID:28194412|PMID:28294978|PMID:28454995|PMID:28492532|PMID:28499588|PMID:30450527|PMID:31108370|PMID:33125268|PMID:35599849
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0070138	autosomal recessive cutis laxa type IIIB		ISO	RGD:1317303	D	RGD:7240710	20140911	OMIM			
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0070138	autosomal recessive cutis laxa type IIIB		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB | ClinVar Annotator: match by term: DE BARSY SYNDROME B | ClinVar Annotator: match by term: PYCR1-related condition	PMID:16199547|PMID:17576681|PMID:19648921|PMID:21567914|PMID:21834030|PMID:23406396|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28294978|PMID:28454995|PMID:28492532|PMID:30450527|PMID:9536098
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1317303	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:0081333	Wiedemann-Rautenstrauch syndrome		ISO	RGD:1317303	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome	PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28492532|PMID:30450527
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:10608	celiac disease		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:10907	microcephaly		ISO	RGD:1317303	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19648921|PMID:21739576|PMID:21834030|PMID:23963297|PMID:24035636|PMID:24913064|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28492532|PMID:30450527
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:11782	astigmatism		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:11830	myopia		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:14766	renal agenesis		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:19648921|PMID:25741868
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:1826	epilepsy		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:3144	cutis laxa		ISO	RGD:1317303	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19648921
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:3144	cutis laxa		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:16233902|PMID:19576563|PMID:19648921|PMID:21739576|PMID:21834030|PMID:23963297|PMID:24035636|PMID:24913064|PMID:25741868|PMID:25741869|PMID:25865492|PMID:26516448|PMID:28194412|PMID:28294978|PMID:28492532|PMID:30138938|PMID:30450527|PMID:33125268
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:3911	progeria		ISO	RGD:1317303	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19648921
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:540	strabismus		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:630	genetic disease		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16233902|PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:30138938|PMID:33125268
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:6364	migraine		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9000053	Headache		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Headache	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:19648921|PMID:24035636|PMID:25741868
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317303	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1317303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:33125268
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	PMID:23531708|PMID:24035636|PMID:25741868
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9004014	Adducted Thumbs Syndrome		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumbs, congenital Clasped	PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317303	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19648921|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25865492|PMID:28194412|PMID:28492532|PMID:30450527
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:19648921|PMID:24035636|PMID:25741868
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9834	hyperopia		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1307863	Pycr1	pyrroline-5-carboxylate reductase 1	gene	DOID:9970	obesity		ISO	RGD:1317303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:0112119	combined oxidative phosphorylation deficiency 41		ISO	RGD:1317305	D	RGD:7240710	20200520	OMIM			
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:0112119	combined oxidative phosphorylation deficiency 41		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 41 | ClinVar Annotator: match by term: GATB-related condition	PMID:25741868|PMID:30283131|PMID:38703036
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:1115	sarcoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:1324	lung cancer		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:3070	high grade glioma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:3275	thymoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:9000777	Mitochondrial Cardiomyopathy		ISO	RGD:1317305	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial	PMID:30283131
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307864	Gatb	glutamyl-tRNA amidotransferase subunit B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1317307	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:10283	prostate cancer		ISO	RGD:1317307	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:10283	prostate cancer		ISO	RGD:1317307	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:22622578|PMID:35101336
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:1909	melanoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:22622578|PMID:26359337|PMID:27993330
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:2043	hepatitis B		ISO	RGD:1317307	D	RGD:151665185|PMID:25151370	20220315	RGD		associated with hepatocellular carcinoma;mRNA:increased expression:liver (human)	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:3275	thymoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317307	D	RGD:151665184|PMID:32537022	20220315	RGD		mRNA:increased expression:lung (human)	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1317307	D	RGD:151665187|PMID:31711559	20220315	RGD		mRNA:increased expression:lung (human)	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:4927	Klatskin's tumor		ISO	RGD:1317307	D	RGD:126848756|PMID:33387086	20210428	RGD		DNA:substitutions, insertion/deletions: (human)	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:4927	Klatskin's tumor	sexual_dimorphism	ISO	RGD:1317307	D	RGD:9068941	20220310	RGD		DNA:substitutions, insertion/deletions: (human)	PMID:33387086|REF_RGD_ID:126848756
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:4947	cholangiocarcinoma	sexual_dimorphism	ISO	RGD:1317307	D	RGD:151665188|PMID:28000796	20220315	RGD		DNA:substitutions, insertion/deletions: (human)	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317307	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317307	D	RGD:151665188|PMID:28000796	20220315	RGD		mRNA:decreased expression:liver (human)	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317307	D	RGD:151665343|PMID:31776854	20220322	RGD		mRNA:increased expression:liver (human)	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1317307	D	RGD:151665185|PMID:25151370	20220315	RGD		mRNA:increased expression:liver (human)	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1317307	D	RGD:151665186|PMID:28205209	20220315	RGD		protein:increased expression:liver (human)	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1307865	Prex2	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307867	Dph5	diphthamide biosynthesis 5	gene	DOID:0070479	neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties		ISO	RGD:1602122	D	RGD:7240710	20221109	OMIM			
1307867	Dph5	diphthamide biosynthesis 5	gene	DOID:0070479	neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties		ISO	RGD:1602122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	PMID:25741868|PMID:35482014
1307867	Dph5	diphthamide biosynthesis 5	gene	DOID:1115	sarcoma		ISO	RGD:1602122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307867	Dph5	diphthamide biosynthesis 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307867	Dph5	diphthamide biosynthesis 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307867	Dph5	diphthamide biosynthesis 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307867	Dph5	diphthamide biosynthesis 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307868	Gas2l2	growth arrest-specific 2 like 2	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:1317311	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia 3	
1307868	Gas2l2	growth arrest-specific 2 like 2	gene	DOID:0111858	primary ciliary dyskinesia 41		ISO	RGD:1317311	D	RGD:7240710	20190626	OMIM			
1307868	Gas2l2	growth arrest-specific 2 like 2	gene	DOID:0111858	primary ciliary dyskinesia 41		ISO	RGD:1317311	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 41 | ClinVar Annotator: match by term: GAS2L2-related condition | ClinVar Annotator: match by term: ciliary dyskinesia, primary, 41	PMID:25741868
1307868	Gas2l2	growth arrest-specific 2 like 2	gene	DOID:0111858	primary ciliary dyskinesia 41		ISS	RGD:1614148	D	RGD:13592920	20260129	MouseDO		OMIM:618449	
1307868	Gas2l2	growth arrest-specific 2 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307870	Fbxo36	F-box protein 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307870	Fbxo36	F-box protein 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307870	Fbxo36	F-box protein 36	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307870	Fbxo36	F-box protein 36	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307871	Mgat4c	MGAT4 family, member C	gene	DOID:1115	sarcoma		ISO	RGD:1604033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307872	Sema4b	semaphorin 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307872	Sema4b	semaphorin 4B	gene	DOID:0060058	lymphoma		ISO	RGD:1317317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307872	Sema4b	semaphorin 4B	gene	DOID:10534	stomach cancer		ISO	RGD:1317317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307872	Sema4b	semaphorin 4B	gene	DOID:1324	lung cancer		ISO	RGD:1317317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307872	Sema4b	semaphorin 4B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307872	Sema4b	semaphorin 4B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307872	Sema4b	semaphorin 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307872	Sema4b	semaphorin 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307873	Slc30a7	solute carrier family 30 member 7	gene	DOID:0060058	lymphoma		ISO	RGD:1317319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307873	Slc30a7	solute carrier family 30 member 7	gene	DOID:1115	sarcoma		ISO	RGD:1317319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307873	Slc30a7	solute carrier family 30 member 7	gene	DOID:1909	melanoma		ISO	RGD:1317319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307873	Slc30a7	solute carrier family 30 member 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307873	Slc30a7	solute carrier family 30 member 7	gene	DOID:3275	thymoma		ISO	RGD:1317319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307873	Slc30a7	solute carrier family 30 member 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307873	Slc30a7	solute carrier family 30 member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307873	Slc30a7	solute carrier family 30 member 7	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1317319	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17068819
1307873	Slc30a7	solute carrier family 30 member 7	gene	DOID:9007427	ZIEGLER-HUANG SYNDROME		ISO	RGD:1317319	D	RGD:7240710	20231115	OMIM			
1307873	Slc30a7	solute carrier family 30 member 7	gene	DOID:9007427	ZIEGLER-HUANG SYNDROME		ISO	RGD:1317319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ziegler-Huang syndrome	PMID:25741868
1307873	Slc30a7	solute carrier family 30 member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307873	Slc30a7	solute carrier family 30 member 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307874	Mdh1b	malate dehydrogenase 1B	gene	DOID:1115	sarcoma		ISO	RGD:1317321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307874	Mdh1b	malate dehydrogenase 1B	gene	DOID:1909	melanoma		ISO	RGD:1317321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307874	Mdh1b	malate dehydrogenase 1B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307874	Mdh1b	malate dehydrogenase 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1317321	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307874	Mdh1b	malate dehydrogenase 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307874	Mdh1b	malate dehydrogenase 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307875	Micall2	MICAL-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307875	Micall2	MICAL-like 2	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1605936	D	RGD:8554872	20170307	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 1	
1307875	Micall2	MICAL-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307875	Micall2	MICAL-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307875	Micall2	MICAL-like 2	gene	DOID:1909	melanoma		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307875	Micall2	MICAL-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307875	Micall2	MICAL-like 2	gene	DOID:3275	thymoma		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307875	Micall2	MICAL-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307875	Micall2	MICAL-like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307875	Micall2	MICAL-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605936	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307875	Micall2	MICAL-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307875	Micall2	MICAL-like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307875	Micall2	MICAL-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307875	Micall2	MICAL-like 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307875	Micall2	MICAL-like 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1307875	Micall2	MICAL-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307875	Micall2	MICAL-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307875	Micall2	MICAL-like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307876	Lactb2	lactamase, beta 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307877	Prss54	serine protease 54	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3438752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0060260	ptosis		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0070309	absence epilepsy		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0080227	autosomal dominant intellectual developmental disorder 55		ISO	RGD:1317328	D	RGD:7240710	20190315	OMIM			
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0080227	autosomal dominant intellectual developmental disorder 55		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 55, WITH SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES	PMID:16199547|PMID:25066056|PMID:25741868|PMID:28492532|PMID:28842490|PMID:29100083|PMID:31656175|PMID:32485575|PMID:33731878|PMID:34532305|PMID:35949226|PMID:36672771
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0080553	congenital disorder of glycosylation Iaa		ISO	RGD:1317328	D	RGD:7240710	20190315	OMIM			
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0080553	congenital disorder of glycosylation Iaa		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA	PMID:16199547|PMID:17576681|PMID:25066056|PMID:25741868|PMID:28492532|PMID:28842490|PMID:29100083|PMID:30348779|PMID:31273557|PMID:31582230|PMID:31656175|PMID:32334381|PMID:32485575|PMID:33111323|PMID:33731878|PMID:34532305|PMID:35949226|PMID:36672771|PMID:36801247|PMID:38291835|PMID:40590478|PMID:9536098
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0080855	Parkinsonism		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0080924	complex cortical dysplasia with other brain malformations 14B		ISO	RGD:1317328	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:10603	glucose intolerance		ISO	RGD:1317328	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: therapeutic	PMID:33812996
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:10907	microcephaly		ISO	RGD:1317328	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive	PMID:24824130|PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:10907	microcephaly		ISO	RGD:1317328	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:11782	astigmatism		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:28492532|PMID:35949226
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:12143	neurogenic bladder		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:25741868|PMID:28492532|PMID:35949226
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:36801247
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:12859	choreatic disease		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:1307	dementia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:1324	lung cancer		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:1826	epilepsy		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:35949226|PMID:36801247
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:1909	melanoma		ISO	RGD:1317328	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:2234	focal epilepsy		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:3275	thymoma		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:4195	hyperglycemia		ISO	RGD:1317328	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: therapeutic	PMID:33812996
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital disorders of glycosylation	PMID:25066056|PMID:25741868|PMID:28492532|PMID:28842490|PMID:34532305|PMID:35949226|PMID:36672771
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:540	strabismus		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:630	genetic disease		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:767	muscular atrophy		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:8927	learning disability		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9000495	Tremor		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor | ClinVar Annotator: match by term: Tremor	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9000727	Syncope		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9001722	Dysarthria		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28492532|PMID:35949226
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9003133	Hypertelorism		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532|PMID:35949226
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868|PMID:28492532|PMID:35949226
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9004657	Weight Gain		ISO	RGD:1317328	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: marker/mechanism	PMID:33812996
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9004866	Ataxia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532|PMID:35949226
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:36801247
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1317328	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: marker/mechanism	PMID:33812996
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868|PMID:28492532|PMID:35949226
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9007001	Bradycardia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:25741868|PMID:28492532|PMID:35949226
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1317328	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: therapeutic	PMID:33812996
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9007573	Flatfoot		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532|PMID:35949226
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1317328	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: therapeutic	PMID:33812996
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9007722	Myoclonus		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9008023	Memory Disorders		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:36801247
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317328	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: marker/mechanism	PMID:30718926|PMID:33812996
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9452	steatotic liver disease		ISO	RGD:1317328	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: therapeutic	PMID:33812996
1307879	Nus1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9834	hyperopia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532|PMID:35949226
1307880	B4galt4	beta-1,4-galactosyltransferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1317330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307880	B4galt4	beta-1,4-galactosyltransferase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1317330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307880	B4galt4	beta-1,4-galactosyltransferase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1317330	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307880	B4galt4	beta-1,4-galactosyltransferase 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1317330	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1307880	B4galt4	beta-1,4-galactosyltransferase 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307880	B4galt4	beta-1,4-galactosyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307881	Rrp9	ribosomal RNA processing 9, U3 small nucleolar RNA binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307881	Rrp9	ribosomal RNA processing 9, U3 small nucleolar RNA binding protein	gene	DOID:1909	melanoma		ISO	RGD:1317332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307881	Rrp9	ribosomal RNA processing 9, U3 small nucleolar RNA binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307881	Rrp9	ribosomal RNA processing 9, U3 small nucleolar RNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1317332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307881	Rrp9	ribosomal RNA processing 9, U3 small nucleolar RNA binding protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307881	Rrp9	ribosomal RNA processing 9, U3 small nucleolar RNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307881	Rrp9	ribosomal RNA processing 9, U3 small nucleolar RNA binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307881	Rrp9	ribosomal RNA processing 9, U3 small nucleolar RNA binding protein	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1317332	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1307881	Rrp9	ribosomal RNA processing 9, U3 small nucleolar RNA binding protein	gene	DOID:9000918	Disease Progression		ISO	RGD:1317332	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1307881	Rrp9	ribosomal RNA processing 9, U3 small nucleolar RNA binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307881	Rrp9	ribosomal RNA processing 9, U3 small nucleolar RNA binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:0060058	lymphoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:1115	sarcoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:4892414	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:4892414	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307882	U2surp	U2 snRNP-associated SURP domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:4892414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:0060058	lymphoma		ISO	RGD:1317335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:0070424	combined oxidative phosphorylation deficiency 44		ISO	RGD:1317335	D	RGD:7240710	20200520	OMIM			
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:0070424	combined oxidative phosphorylation deficiency 44		ISO	RGD:1317335	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 44 | ClinVar Annotator: match by term: FASTKD2-related condition	PMID:18771761|PMID:25741868|PMID:28492532|PMID:31944455|PMID:36712458|PMID:38703036
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1317335	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:25741868|PMID:28492532
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:1115	sarcoma		ISO	RGD:1317335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:3070	high grade glioma		ISO	RGD:1317335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:3652	Leigh disease		ISO	RGD:1317335	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1317335	D	RGD:11554173	20250708	CTD		CTD Direct Evidence: marker/mechanism	
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1317335	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Complex IV deficiency	PMID:25741868|PMID:28492532
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:630	genetic disease		ISO	RGD:1317335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:17576681|PMID:28492532|PMID:9536098
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317335	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307883	Fastkd2	FAST kinase domains 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1317335	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0050823	third-degree atrioventricular block		ISO	RGD:1317337	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Third degree atrioventricular block	
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0050857	Perrault syndrome		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Perrault syndrome	PMID:25355836|PMID:25741868|PMID:26206283|PMID:26243799|PMID:26970254|PMID:27551684|PMID:27650058|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31055809|PMID:31455392|PMID:31852434|PMID:32234020|PMID:32281099|PMID:32283748|PMID:34338890|PMID:34426522|PMID:35035228|PMID:35914129|PMID:36400570|PMID:36838782|PMID:37932750|PMID:39095891
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0050950	autosomal recessive cerebellar ataxia		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia	PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31852434|PMID:35641312|PMID:37349538
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0060260	ptosis		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0070329	mitochondrial DNA depletion syndrome		ISS	RGD:1317338	D	RGD:13592920	20250828	MouseDO			
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0080126	mitochondrial DNA depletion syndrome 7		ISO	RGD:1317337	D	RGD:7240710	20130221	OMIM			
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0080126	mitochondrial DNA depletion syndrome 7		ISO	RGD:1317337	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | ClinVar Annotator: match by term: Mitochondrial hepatopathy | ClinVar Annotator: match by term: OHAHA SYNDROME | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, INFANTILE, WITH SENSORY NEUROPATHY | ClinVar Annotator: match by term: Spinocerebellar ataxia, infantile-onset | ClinVar Annotator: match by term: mitochondrial hepatopathy	PMID:16135556|PMID:17722119|PMID:17921179|PMID:18775955|PMID:20659899|PMID:21681116|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:27650058|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31055809|PMID:31455392|PMID:31852434|PMID:33486010|PMID:35641312|PMID:36099812|PMID:37349538|PMID:38703036
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0080126	mitochondrial DNA depletion syndrome 7		ISS	RGD:1317338	D	RGD:13592920	20250821	MouseDO		OMIM:271245	
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1317337	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1317337	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:15668446|PMID:17614277|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24018892|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:27551684|PMID:28492532|PMID:29458409
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31852434|PMID:35641312|PMID:37349538
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0111520	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3		ISO	RGD:1317337	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0111520	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3		ISO	RGD:1317337	D	RGD:7240710	20150812	OMIM			
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0111520	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3		ISO	RGD:1317337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	PMID:003|PMID:01|PMID:10|PMID:1016|PMID:11431692|PMID:12163192|PMID:12707443|PMID:15668446|PMID:16639411|PMID:17272269|PMID:17614277|PMID:17620490|PMID:18279890|PMID:18575922|PMID:18971204|PMID:19353676|PMID:19428252|PMID:19513767|PMID:2011|PMID:2012|PMID:20301746|PMID:20479361|PMID:20659899|PMID:20880070|PMID:21681116|PMID:21689831|PMID:24014582|PMID:24018892|PMID:24076137|PMID:25133958|PMID:25741868|PMID:25989649|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28492532|PMID:28812649|PMID:29095814|PMID:29458409|PMID:30770810|PMID:30799093|PMID:31271879|PMID:31455392|PMID:31852434|PMID:32161153|PMID:32283748|PMID:33396418|PMID:34409151|PMID:35011763|PMID:35286480|PMID:35289132|PMID:35641312|PMID:36099812|PMID:37349538|PMID:38703036
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0111520	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3		ISS	RGD:1317338	D	RGD:13592920	20250814	MouseDO		OMIM:609286	
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:0111521	autosomal dominant progressive external ophthalmoplegia 1		ISO	RGD:1317337	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	PMID:11431692|PMID:18575922|PMID:18971204|PMID:20659899|PMID:25741868|PMID:28492532
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:11431692|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18971204|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32161153|PMID:35289132
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:12558	chronic progressive external ophthalmoplegia		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive external ophthalmoplegia	PMID:11431692|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18971204|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32161153|PMID:35289132
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:12558	chronic progressive external ophthalmoplegia	susceptibility	ISO	RGD:1317337	D	RGD:1600544|PMID:11431692	20070313	RGD		DNA:mutations	
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:13938	amenorrhea		ISO	RGD:1317337	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:25741868|PMID:28492532|PMID:33486010
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:14330	Parkinson's disease		ISS	RGD:1317338	D	RGD:13592920	20240425	MouseDO			
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:1596	depressive disorder		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental depression	PMID:11431692|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18971204|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32161153|PMID:35289132
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:35641312|PMID:37349538
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:1317337	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	PMID:25741868|PMID:28492532|PMID:33486010
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532|PMID:35641312|PMID:37349538
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:539	ophthalmoplegia		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ophthalmoplegia	PMID:25741868|PMID:27551684|PMID:28492532|PMID:36099812
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:540	strabismus		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:5723	optic atrophy		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:27551684|PMID:28492532|PMID:36099812
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:630	genetic disease		ISO	RGD:1317337	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1317337	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disorder	PMID:11431692|PMID:12707443|PMID:12872260|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18575922|PMID:18971204|PMID:18973250|PMID:19084593|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20818383|PMID:20880070|PMID:24076137|PMID:24086434|PMID:25741868|PMID:26467025|PMID:26469001|PMID:27650058|PMID:28492532|PMID:28812649|PMID:30496414|PMID:31055809|PMID:32161153|PMID:34732400|PMID:35289132
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder	PMID:11431692|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18971204|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:25741868|PMID:26467025|PMID:26469001|PMID:27650058|PMID:28492532|PMID:28812649|PMID:31055809|PMID:32161153|PMID:34732400|PMID:35289132
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9000124	Perrault Syndrome 5		ISO	RGD:1317337	D	RGD:7240710	20150311	OMIM			
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9000124	Perrault Syndrome 5		ISO	RGD:1317337	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PERRAULT SYNDROME 5 | ClinVar Annotator: match by term: Perrault syndrome 5	PMID:18593709|PMID:25355836|PMID:25741868|PMID:26243799|PMID:27551684|PMID:27650058|PMID:28178980|PMID:28492532|PMID:29302074|PMID:30311386|PMID:31055809|PMID:31455392|PMID:31823625|PMID:32234020|PMID:32281099|PMID:32283748|PMID:33486010|PMID:34338890|PMID:34426522|PMID:35035228|PMID:35914129|PMID:36400570|PMID:36838782|PMID:37932750|PMID:39095891
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9001890	Auditory Neuropathy		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy	PMID:25741868|PMID:27551684|PMID:28492532|PMID:30818899|PMID:36099812
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive | ClinVar Annotator: match by term: spinocerebellar ataxia	PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31852434|PMID:35641312|PMID:37349538
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1317337	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing loss	PMID:25741868|PMID:28492532|PMID:33486010
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9004866	Ataxia		ISO	RGD:1317337	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Dyssynergia	PMID:25741868|PMID:27551684|PMID:28492532|PMID:33486010|PMID:36099812
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:25741868|PMID:27551684|PMID:28492532|PMID:36099812
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:8694093|PMID:22743328	20140724	RGD		mRNA,protein:decreased expression:retina,mitochondrion:	
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1317338	D	RGD:8694187|PMID:22229649	20140728	RGD		mRNA,protein:decreased expression:retina,mitochondrion:	
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9005815	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive		ISO	RGD:1317337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC	PMID:12707443|PMID:18575922|PMID:18973250|PMID:19084593|PMID:20659899|PMID:24086434|PMID:25741868|PMID:28492532|PMID:28812649|PMID:30496414
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9006178	Dysphonia		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphonia	PMID:11431692|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18971204|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32161153|PMID:35289132
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:27551684|PMID:28492532|PMID:36099812
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31852434|PMID:35641312|PMID:37349538
1307884	Twnk	twinkle mtDNA helicase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:10534	stomach cancer		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317339	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:32641753
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:1909	melanoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1317339	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26950094
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:4362	cervical cancer		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1317339	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:769	neuroblastoma		ISO	RGD:1317339	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:9002801	Recurrence		ISO	RGD:1317339	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:9007154	Choanal Atresia and Lymphedema		ISO	RGD:1317339	D	RGD:7240710	20130221	OMIM			
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:9007154	Choanal Atresia and Lymphedema		ISO	RGD:1317339	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHOANAL ATRESIA AND LYMPHEDEMA | ClinVar Annotator: match by term: Lymphedema-posterior choanal atresia syndrome | ClinVar Annotator: match by term: PTPN14-related condition	PMID:25741868|PMID:28492532
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307885	Ptpn14	protein tyrosine phosphatase, non-receptor type 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307886	Ube2d1	ubiquitin-conjugating enzyme E2D 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307886	Ube2d1	ubiquitin-conjugating enzyme E2D 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307886	Ube2d1	ubiquitin-conjugating enzyme E2D 1	gene	DOID:1324	lung cancer		ISO	RGD:1317341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307886	Ube2d1	ubiquitin-conjugating enzyme E2D 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307886	Ube2d1	ubiquitin-conjugating enzyme E2D 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307886	Ube2d1	ubiquitin-conjugating enzyme E2D 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307886	Ube2d1	ubiquitin-conjugating enzyme E2D 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307887	Patl2	PAT1 homolog 2	gene	DOID:1100	ovarian disease		ISS	RGD:1317343	D	RGD:13592920	20181011	MouseDO			
1307887	Patl2	PAT1 homolog 2	gene	DOID:1115	sarcoma		ISO	RGD:2303478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307887	Patl2	PAT1 homolog 2	gene	DOID:4362	cervical cancer		ISO	RGD:2303478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307887	Patl2	PAT1 homolog 2	gene	DOID:5041	esophageal cancer		ISO	RGD:2303478	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307887	Patl2	PAT1 homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2303478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307887	Patl2	PAT1 homolog 2	gene	DOID:630	genetic disease		ISO	RGD:2303478	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307887	Patl2	PAT1 homolog 2	gene	DOID:9000602	Oocyte Maturation Defect 4		ISO	RGD:2303478	D	RGD:7240710	20190315	OMIM			
1307887	Patl2	PAT1 homolog 2	gene	DOID:9000602	Oocyte Maturation Defect 4		ISO	RGD:2303478	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 4 | ClinVar Annotator: match by term: Oocyte maturation defect 4	PMID:24033266|PMID:25741868|PMID:28965844|PMID:28965849|PMID:29661911|PMID:32552793|PMID:33614659
1307888	Exosc9	exosome component 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307888	Exosc9	exosome component 9	gene	DOID:0060264	pontocerebellar hypoplasia		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia	PMID:25741868|PMID:28492532|PMID:29727687|PMID:30125339|PMID:30690203|PMID:33040083|PMID:34782754|PMID:35893425
1307888	Exosc9	exosome component 9	gene	DOID:0112323	pontocerebellar hypoplasia type 1D		ISO	RGD:1317344	D	RGD:7240710	20190315	OMIM			
1307888	Exosc9	exosome component 9	gene	DOID:0112323	pontocerebellar hypoplasia type 1D		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EXOSC9-related condition | ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1D	PMID:25741868|PMID:28492532|PMID:29727687|PMID:30690203|PMID:32527837|PMID:33040083
1307888	Exosc9	exosome component 9	gene	DOID:10348	blepharophimosis		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:25741868|PMID:28492532|PMID:29727687|PMID:33040083
1307888	Exosc9	exosome component 9	gene	DOID:10534	stomach cancer		ISO	RGD:1317344	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307888	Exosc9	exosome component 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307888	Exosc9	exosome component 9	gene	DOID:1115	sarcoma		ISO	RGD:1317344	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307888	Exosc9	exosome component 9	gene	DOID:11836	clubfoot		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28492532|PMID:29727687|PMID:33040083
1307888	Exosc9	exosome component 9	gene	DOID:1826	epilepsy		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:29727687|PMID:33040083
1307888	Exosc9	exosome component 9	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28492532|PMID:29727687|PMID:33040083
1307888	Exosc9	exosome component 9	gene	DOID:3275	thymoma		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307888	Exosc9	exosome component 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307888	Exosc9	exosome component 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1317344	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307888	Exosc9	exosome component 9	gene	DOID:540	strabismus		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:29727687|PMID:33040083
1307888	Exosc9	exosome component 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317344	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307888	Exosc9	exosome component 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:16199547|PMID:28492532|PMID:29727687|PMID:33040083
1307888	Exosc9	exosome component 9	gene	DOID:630	genetic disease		ISO	RGD:1317344	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307888	Exosc9	exosome component 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:16199547|PMID:28492532|PMID:29727687|PMID:33040083
1307888	Exosc9	exosome component 9	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532|PMID:29727687|PMID:33040083
1307888	Exosc9	exosome component 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307888	Exosc9	exosome component 9	gene	DOID:9007661	Dwarfism		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:29727687|PMID:33040083
1307888	Exosc9	exosome component 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307889	Mynn	myoneurin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307889	Mynn	myoneurin	gene	DOID:0060645	chronic recurrent multifocal osteomyelitis		ISO	RGD:1317346	D	RGD:8554872	20171205	ClinVar		ClinVar Annotator: match by term: Chronic osteomyelitis	
1307889	Mynn	myoneurin	gene	DOID:10534	stomach cancer		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307889	Mynn	myoneurin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307889	Mynn	myoneurin	gene	DOID:1324	lung cancer		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307889	Mynn	myoneurin	gene	DOID:1909	melanoma		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307889	Mynn	myoneurin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307889	Mynn	myoneurin	gene	DOID:4362	cervical cancer		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307889	Mynn	myoneurin	gene	DOID:5041	esophageal cancer		ISO	RGD:1317346	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307889	Mynn	myoneurin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307889	Mynn	myoneurin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307890	Trmt1l	tRNA methyltransferase 1-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317348	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307890	Trmt1l	tRNA methyltransferase 1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307890	Trmt1l	tRNA methyltransferase 1-like	gene	DOID:10534	stomach cancer		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307890	Trmt1l	tRNA methyltransferase 1-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307890	Trmt1l	tRNA methyltransferase 1-like	gene	DOID:1909	melanoma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307890	Trmt1l	tRNA methyltransferase 1-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307890	Trmt1l	tRNA methyltransferase 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307890	Trmt1l	tRNA methyltransferase 1-like	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307890	Trmt1l	tRNA methyltransferase 1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307890	Trmt1l	tRNA methyltransferase 1-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	IEP		D	RGD:25330099|PMID:26115886	20200407	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:1317350	D	RGD:25440493|PMID:22013387	20200420	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:1317350	D	RGD:25824939|PMID:27220557	20200506	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:1317350	D	RGD:25824943|PMID:18755807	20200506	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0070658	alcohol-associated liver disease	treatment	IEP		D	RGD:25824940|PMID:24797033	20200506	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		IEP		D	RGD:1599139|PMID:17006986	20200326	RGD		mRNA:increased expression:liver (rat)	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:1317349	D	RGD:25440492|PMID:19422483	20200420	RGD		mRNA:increased expression:liver (human)	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	susceptibility	ISO	RGD:1317349	D	RGD:24922200|PMID:25345946	20200326	RGD		DNA:missense mutation:cds: (human)	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	susceptibility	ISO	RGD:1317350	D	RGD:24922201|PMID:29569260	20200326	RGD		mRNA, protein:decreased expression:serum, liver (mouse)	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	IEP		D	RGD:25330097|PMID:26770322	20200407	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	IEP		D	RGD:25824941|PMID:25536648	20200506	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1317350	D	RGD:25330094|PMID:19763702	20200407	RGD		associated with obesity;protein:decreased expression:liver (mouse)	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	susceptibility	IEP		D	RGD:21076282|PMID:20606728	20200313	RGD		mRNA:decreased expression:liver (rat)	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	IEP		D	RGD:25440494|PMID:20965162	20200420	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	IEP		D	RGD:25824942|PMID:30131158	20200506	RGD		associated with obesity	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1317350	D	RGD:25330095|PMID:18666257	20200407	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317349	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:10603	glucose intolerance	treatment	IEP		D	RGD:25330096|PMID:23797890	20200407	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:1115	sarcoma		ISO	RGD:1317349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:1612	breast cancer	no_association	ISO	RGD:1317349	D	RGD:8694417|PMID:19723917	20140805	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:2018	hyperinsulinism		IEP		D	RGD:1625765|PMID:16326833	20070629	RGD		mRNA:increased expression:skeletal muscle cell	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1317350	D	RGD:1599139|PMID:17006986	20200326	RGD		mRNA:decreased expression:liver (mouse)	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:5844	myocardial infarction		ISO	RGD:1317350	D	RGD:1625764|PMID:16415076	20070629	RGD		mRNA, protein:decreased expression:heart left ventricle	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:783	end stage renal disease		IEP		D	RGD:8695941|PMID:24028144	20140806	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9001573	Experimental Liver Cirrhosis	severity	ISO	RGD:1317350	D	RGD:24922203|PMID:29237572	20200326	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9002231	Fetal Growth Retardation	treatment	IEP		D	RGD:8695947|PMID:23533720	20140806	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		IDA		D	RGD:2312478|PMID:19220660	20090819	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1317350	D	RGD:2312488|PMID:18222103	20090819	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9005643	Experimental Diabetes Mellitus	no_association	IDA		D	RGD:2312495|PMID:17884446	20090819	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9005930	Endotoxemia	severity	IEP		D	RGD:8695926|PMID:23838384	20200420	RGD		associated with obesity;mRNA:decreased expression:liver (rat)	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	severity	IEP		D	RGD:8695926|PMID:23838384	20200420	RGD		associated with obesity, LPS;mRNA:decreased expression:liver (rat)	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9007456	Female Infertility		ISO	RGD:1317349	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22265003
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9007692	Insulin Resistance	treatment	IEP		D	RGD:21406435|PMID:30225267	20200313	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9007692	Insulin Resistance	treatment	IEP		D	RGD:25824940|PMID:24797033	20200506	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317349	D	RGD:2312480|PMID:18548168	20090819	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317349	D	RGD:2312486|PMID:18363889	20090819	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317349	D	RGD:2312490|PMID:18075289	20090819	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1317349	D	RGD:2312476|PMID:19631916	20090819	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9452	steatotic liver disease	treatment	IEP		D	RGD:21406435|PMID:30225267	20200313	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9452	steatotic liver disease	treatment	IEP		D	RGD:2307264|PMID:19076162	20200326	RGD		associated with Diabetes Mellitus, Experimental	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9970	obesity		IEP		D	RGD:1625763|PMID:16483885	20070629	RGD		mRNA:increased expression:liver	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9970	obesity	severity	IEP		D	RGD:8695926|PMID:23838384	20200420	RGD		mRNA:decreased expression:liver (rat)	
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9970	obesity	treatment	IEP		D	RGD:21406435|PMID:30225267	20200313	RGD			
1307891	Adipor2	adiponectin receptor 2	gene	DOID:9970	obesity	treatment	IEP		D	RGD:25824942|PMID:30131158	20200506	RGD		associated with non-alcoholic fatty liver disease	
1307892	Lypd2	Ly6/Plaur domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307892	Lypd2	Ly6/Plaur domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307893	Tapbpl	TAP binding protein-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307893	Tapbpl	TAP binding protein-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307893	Tapbpl	TAP binding protein-like	gene	DOID:10534	stomach cancer		ISO	RGD:1317352	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307893	Tapbpl	TAP binding protein-like	gene	DOID:1115	sarcoma		ISO	RGD:1317352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307893	Tapbpl	TAP binding protein-like	gene	DOID:4362	cervical cancer		ISO	RGD:1317352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307893	Tapbpl	TAP binding protein-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307893	Tapbpl	TAP binding protein-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307893	Tapbpl	TAP binding protein-like	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1317352	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1307893	Tapbpl	TAP binding protein-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307895	Wee1	WEE1 G2 checkpoint kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307895	Wee1	WEE1 G2 checkpoint kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307895	Wee1	WEE1 G2 checkpoint kinase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1317355	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:34664776
1307895	Wee1	WEE1 G2 checkpoint kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1317355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307895	Wee1	WEE1 G2 checkpoint kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317355	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:25125259
1307895	Wee1	WEE1 G2 checkpoint kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307896	Clptm1l	CLPTM1-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307896	Clptm1l	CLPTM1-like	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:150530487|PMID:28025427	20211213	RGD		DNA:SNP: :rs402710(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:0050921	pharynx squamous cell carcinoma	sexual_dimorphism	ISO	RGD:1605932	D	RGD:150530637|PMID:31429604	20211220	RGD		in males;DNA:SNP: :rs401681(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307896	Clptm1l	CLPTM1-like	gene	DOID:10283	prostate cancer		ISO	RGD:1605932	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307896	Clptm1l	CLPTM1-like	gene	DOID:10283	prostate cancer		ISO	RGD:1605932	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307896	Clptm1l	CLPTM1-like	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1605932	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24292274
1307896	Clptm1l	CLPTM1-like	gene	DOID:10534	stomach cancer		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307896	Clptm1l	CLPTM1-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605932	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717
1307896	Clptm1l	CLPTM1-like	gene	DOID:1324	lung cancer		ISO	RGD:1317357	D	RGD:150530483|PMID:24366883	20211213	RGD			
1307896	Clptm1l	CLPTM1-like	gene	DOID:1324	lung cancer		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307896	Clptm1l	CLPTM1-like	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD			PMID:27062701|REF_RGD_ID:150537097
1307896	Clptm1l	CLPTM1-like	gene	DOID:1324	lung cancer	sexual_dimorphism	ISO	RGD:1605932	D	RGD:150530643|PMID:21771723	20211220	RGD		in males;DNA:SNP: :rs370348(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1605932	D	RGD:150530484|PMID:26852039	20211213	RGD		DNA:SNPs::multiple (human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1605932	D	RGD:150530494|PMID:25526467	20211214	RGD		DNA:SNPs:: rs402710,rs451360 (human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1605932	D	RGD:150530631|PMID:25422207	20211220	RGD		DNA:SNP:intron:rs31489(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1605932	D	RGD:150530642|PMID:21622582	20211220	RGD		associated with smoking; DNA:SNP:intron:rs31489(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:1909	melanoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307896	Clptm1l	CLPTM1-like	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1605932	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717
1307896	Clptm1l	CLPTM1-like	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1605932	D	RGD:150530497|PMID:25480402	20211214	RGD		mRNA:increased expression:esophagus	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3748	esophagus squamous cell carcinoma	no_association	ISO	RGD:1605932	D	RGD:150537098|PMID:24386361	20211222	RGD		DNA:SNP: :rs401681(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:11572962|PMID:26716642	20211213	RGD		DNA:SNP: :rs451360(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:150530488|PMID:25007268	20211213	RGD		DNA:SNP: :rs401681(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605932	D	RGD:150530483|PMID:24366883	20211213	RGD		mRNA:increased expression:lung	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3907	lung squamous cell carcinoma	no_association	ISO	RGD:1605932	D	RGD:150530499|PMID:24861918	20211214	RGD		DNA:SNP::rs401681(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:150530498|PMID:23908149	20211214	RGD		DNA:SNP:: rs31490(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:150537098|PMID:24386361	20211222	RGD		DNA:SNP: :rs401681(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605932	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22675468
1307896	Clptm1l	CLPTM1-like	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1605932	D	RGD:150530644|PMID:24679952	20211220	RGD		DNA:SNPs: :rs4975616,rs401681(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3908	lung non-small cell carcinoma	no_association	ISO	RGD:1605932	D	RGD:150530500|PMID:24175795	20211214	RGD		DNA:SNPs:: rs401681,rs4975616(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3908	lung non-small cell carcinoma	no_association	ISO	RGD:1605932	D	RGD:150530632|PMID:27982019	20211220	RGD		DNA:SNP: :rs31490(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1605932	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:22675468
1307896	Clptm1l	CLPTM1-like	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1605932	D	RGD:150530483|PMID:24366883	20211213	RGD		mRNA:increased expression:lung	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1605932	D	RGD:150530483|PMID:24366883	20211213	RGD			
1307896	Clptm1l	CLPTM1-like	gene	DOID:3910	lung adenocarcinoma	no_association	ISO	RGD:1605932	D	RGD:150530499|PMID:24861918	20211214	RGD		DNA:SNP::rs401681(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1605932	D	RGD:150530485|PMID:23738012	20211213	RGD		DNA:SNP: :rs401681(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1605932	D	RGD:150530498|PMID:23908149	20211214	RGD		DNA:SNP:: rs31490(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1605932	D	RGD:150530502|PMID:19955392	20211214	RGD		DNA:SNP:: rs4975616(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1605932	D	RGD:150530635|PMID:31935503	20211220	RGD		DNA:SNP::rs77518573(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1605932	D	RGD:150537098|PMID:24386361	20211222	RGD		DNA:SNP: :rs401681(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:4362	cervical cancer		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307896	Clptm1l	CLPTM1-like	gene	DOID:4948	gallbladder carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:150530629|PMID:29450669	20211216	RGD		DNA:SNP, haplotype: :rs401681(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605932	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307896	Clptm1l	CLPTM1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307896	Clptm1l	CLPTM1-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307896	Clptm1l	CLPTM1-like	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1605932	D	RGD:150537100|PMID:29042796	20211222	RGD		DNA:SNP: :rs401681(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:150530496|PMID:25339005	20211214	RGD		DNA:SNPs::rs401681(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605932	D	RGD:150530497|PMID:25480402	20211214	RGD		associated with esophagus squamous cell carcinoma; mRNA:increased expression:esophagus	
1307896	Clptm1l	CLPTM1-like	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605932	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717
1307896	Clptm1l	CLPTM1-like	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1605932	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717
1307896	Clptm1l	CLPTM1-like	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1605932	D	RGD:11554173	20210112	CTD		CTD Direct Evidence: marker/mechanism	PMID:18978787|PMID:19151717|PMID:23433592|PMID:24366883
1307896	Clptm1l	CLPTM1-like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307896	Clptm1l	CLPTM1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307896	Clptm1l	CLPTM1-like	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1605932	D	RGD:11554173	20161213	CTD		CTD Direct Evidence: marker/mechanism	PMID:27749845
1307896	Clptm1l	CLPTM1-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307896	Clptm1l	CLPTM1-like	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1605932	D	RGD:11564613|PMID:26621837	20211213	RGD		protein:increased expression:nasopharynx	
1307896	Clptm1l	CLPTM1-like	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:11556976|PMID:26545403	20211220	RGD		DNA:SNP:intron:rs31489(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:11564613|PMID:26621837	20211213	RGD		DNA:SNP: :rs401681(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:150537099|PMID:31270100	20211222	RGD		DNA:SNP:intron:rs31489(human)	
1307896	Clptm1l	CLPTM1-like	gene	DOID:9675	pulmonary emphysema	severity	ISO	RGD:1605932	D	RGD:150530642|PMID:21622582	20211220	RGD		associated with smoking; DNA:SNP:intron:rs31489(human)	
1307897	Fancm	FA complementation group M	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1317358	D	RGD:11049143|PMID:17409780	20160707	RGD			
1307897	Fancm	FA complementation group M	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307897	Fancm	FA complementation group M	gene	DOID:0070664	oropharyngeal squamous cell carcinoma		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Oropharyngeal squamous cell carcinoma	PMID:25741868
1307897	Fancm	FA complementation group M	gene	DOID:0080872	primary ovarian insufficiency 15		ISO	RGD:1317358	D	RGD:7240710	20200101	OMIM			
1307897	Fancm	FA complementation group M	gene	DOID:0080872	primary ovarian insufficiency 15		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FANCM-related condition | ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 15 | ClinVar Annotator: match by term: Premature ovarian failure 15	PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28569218|PMID:28591191|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28837162|PMID:28881617|PMID:29287190|PMID:29351780|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30927251|PMID:30995915|PMID:31700994|PMID:31911633|PMID:31991861|PMID:32113160|PMID:32235514|PMID:32268276|PMID:33118316|PMID:33384420|PMID:33471991|PMID:34117267|PMID:34326862|PMID:34482403|PMID:34598035|PMID:35413094|PMID:35534704|PMID:35739269|PMID:35802266|PMID:36707629|PMID:37316882|PMID:37349538|PMID:37450374|PMID:38103590|PMID:38874686|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group A	PMID:25741868|PMID:26467025|PMID:28492532|PMID:33471991
1307897	Fancm	FA complementation group M	gene	DOID:0111916	spermatogenic failure 28		ISO	RGD:1317358	D	RGD:7240710	20190315	OMIM			
1307897	Fancm	FA complementation group M	gene	DOID:0111916	spermatogenic failure 28		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 28 | ClinVar Annotator: match by term: Spermatogenic failure 28	PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:28033443|PMID:28492532|PMID:28569218|PMID:28591191|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28837162|PMID:28881617|PMID:29287190|PMID:29351780|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30927251|PMID:30995915|PMID:31700994|PMID:31911633|PMID:31991861|PMID:32113160|PMID:32235514|PMID:32268276|PMID:33118316|PMID:33384420|PMID:33471991|PMID:34117267|PMID:34326862|PMID:34482403|PMID:35413094|PMID:35534704|PMID:35739269|PMID:35802266|PMID:36707629|PMID:37316882|PMID:37349538|PMID:37450374|PMID:38103590|PMID:38874686|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1317358	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:18414213|PMID:25741868|PMID:26296701|PMID:28492532|PMID:28881617|PMID:29351780|PMID:29895858|PMID:30075111
1307897	Fancm	FA complementation group M	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307897	Fancm	FA complementation group M	gene	DOID:1115	sarcoma		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307897	Fancm	FA complementation group M	gene	DOID:1324	lung cancer		ISO	RGD:1317358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307897	Fancm	FA complementation group M	gene	DOID:13636	Fanconi anemia		ISO	RGD:1317358	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16116422
1307897	Fancm	FA complementation group M	gene	DOID:13636	Fanconi anemia		ISO	RGD:1317358	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26067930|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27913932|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30676620|PMID:30995915|PMID:31700994|PMID:31991861|PMID:32566746|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:13636	Fanconi anemia		ISO	RGD:1317358	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28702895|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:33471991|PMID:34174131|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:13636	Fanconi anemia		ISO	RGD:1317358	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28702895|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:13636	Fanconi anemia		ISO	RGD:1317358	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27854218|PMID:27913932|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:28975465|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30676620|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32427313|PMID:32566746|PMID:32868804|PMID:32906206|PMID:32994724|PMID:33471991|PMID:34174131|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:13636	Fanconi anemia		ISO	RGD:1317358	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27913932|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:28975465|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30676620|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32427313|PMID:32566746|PMID:32868804|PMID:32906206|PMID:32994724|PMID:33471991|PMID:34174131|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:13636	Fanconi anemia		ISO	RGD:1317358	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22347400|PMID:22406018|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27713038|PMID:27913932|PMID:28033443|PMID:28492532|PMID:28591191|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:28975465|PMID:29217778|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29760528|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30676620|PMID:30927251|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31589614|PMID:31700994|PMID:31921681|PMID:31970404|PMID:31991861|PMID:32054657|PMID:32235514|PMID:32268276|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32868804|PMID:32906206|PMID:32994724|PMID:33099839|PMID:33118316|PMID:33163394|PMID:33471991|PMID:34117267|PMID:34174131|PMID:34326862|PMID:34598035|PMID:35495172|PMID:35877578|PMID:35929646|PMID:36315097|PMID:36534659|PMID:37316882|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:13636	Fanconi anemia		ISO	RGD:1317358	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22347400|PMID:22406018|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27713038|PMID:27854218|PMID:27913932|PMID:28033443|PMID:28492532|PMID:28591191|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:28975465|PMID:29217778|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29760528|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30676620|PMID:30927251|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31589614|PMID:31700994|PMID:31921681|PMID:31970404|PMID:31991861|PMID:32054657|PMID:32235514|PMID:32268276|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32868804|PMID:32906206|PMID:32994724|PMID:33099839|PMID:33118316|PMID:33163394|PMID:33471991|PMID:34117267|PMID:34174131|PMID:34326862|PMID:34598035|PMID:34646395|PMID:35495172|PMID:35877578|PMID:35929646|PMID:36315097|PMID:36534659|PMID:37316882|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:13636	Fanconi anemia		ISO	RGD:1317358	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22347400|PMID:22406018|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27713038|PMID:27913932|PMID:28033443|PMID:28492532|PMID:28591191|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:28975465|PMID:29217778|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29760528|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30676620|PMID:30927251|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31589614|PMID:31700994|PMID:31921681|PMID:31970404|PMID:31991861|PMID:32054657|PMID:32235514|PMID:32268276|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32868804|PMID:32906206|PMID:32994724|PMID:33036707|PMID:33099839|PMID:33118316|PMID:33163394|PMID:33471991|PMID:34117267|PMID:34174131|PMID:34326862|PMID:34598035|PMID:34646395|PMID:35495172|PMID:35877578|PMID:35929646|PMID:36099812|PMID:36315097|PMID:36534659|PMID:37316882|PMID:37673932|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:13636	Fanconi anemia		ISO	RGD:1317358	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22347400|PMID:22406018|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27713038|PMID:27913932|PMID:28033443|PMID:28492532|PMID:28569218|PMID:28591191|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:28975465|PMID:29217778|PMID:29231814|PMID:29287190|PMID:29338072|PMID:29351780|PMID:29461635|PMID:29625052|PMID:29641532|PMID:29760528|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30666157|PMID:30676620|PMID:30927251|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31589614|PMID:31700994|PMID:31921681|PMID:31970404|PMID:31991861|PMID:32054657|PMID:32235514|PMID:32268276|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32868804|PMID:32906206|PMID:32994724|PMID:33036707|PMID:33099839|PMID:33118316|PMID:33163394|PMID:33384420|PMID:33471991|PMID:34117267|PMID:34174131|PMID:34326862|PMID:34482403|PMID:34598035|PMID:34628056|PMID:34646395|PMID:35413094|PMID:35495172|PMID:35534704|PMID:35710434|PMID:35739269|PMID:35739278|PMID:35802266|PMID:35877578|PMID:35884425|PMID:35929646|PMID:36099812|PMID:36293153|PMID:36315097|PMID:36534659|PMID:36551643|PMID:36707629|PMID:37316882|PMID:37349538|PMID:37444426|PMID:37450374|PMID:37646306|PMID:37656691|PMID:37673932|PMID:38874686|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:13636	Fanconi anemia		ISO	RGD:1317358	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22347400|PMID:22406018|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27713038|PMID:27913932|PMID:28033443|PMID:28492532|PMID:28569218|PMID:28591191|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:28975465|PMID:29217778|PMID:29231814|PMID:29287190|PMID:29338072|PMID:29351780|PMID:29461635|PMID:29625052|PMID:29641532|PMID:29760528|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30625039|PMID:30666157|PMID:30676620|PMID:30927251|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31589614|PMID:31700994|PMID:31921681|PMID:31970404|PMID:31991861|PMID:32054657|PMID:32235514|PMID:32268276|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32868804|PMID:32906206|PMID:32994724|PMID:33036707|PMID:33099839|PMID:33118316|PMID:33163394|PMID:33384420|PMID:33471991|PMID:34117267|PMID:34174131|PMID:34326862|PMID:34482403|PMID:34598035|PMID:34628056|PMID:34646395|PMID:35413094|PMID:35495172|PMID:35534704|PMID:35710434|PMID:35739269|PMID:35739278|PMID:35802266|PMID:35877578|PMID:35884425|PMID:35929646|PMID:36099812|PMID:36293153|PMID:36315097|PMID:36534659|PMID:36551643|PMID:36707629|PMID:37316882|PMID:37349538|PMID:37444426|PMID:37450374|PMID:37646306|PMID:37656691|PMID:37673932|PMID:38874686|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:13636	Fanconi anemia		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26067930|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26689913|PMID:27913932|PMID:28492532|PMID:28569218|PMID:28591191|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28837157|PMID:28837162|PMID:28881617|PMID:28975465|PMID:29287190|PMID:29338072|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30625039|PMID:30676620|PMID:30927251|PMID:30995915|PMID:31263571|PMID:31700994|PMID:31911633|PMID:31991861|PMID:32113160|PMID:32235514|PMID:32268276|PMID:32427313|PMID:32868804|PMID:32906206|PMID:33118316|PMID:33384420|PMID:33471991|PMID:34117267|PMID:34326862|PMID:34482403|PMID:35413094|PMID:35534704|PMID:35739269|PMID:35802266|PMID:35884425|PMID:36622392|PMID:36707629|PMID:37316882|PMID:37349538|PMID:37444426|PMID:37450374|PMID:37608704|PMID:38103590|PMID:38874686|PMID:38927643|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:14227	azoospermia		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Azoospermia	PMID:17289582|PMID:18174376|PMID:19379763|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:26467025|PMID:28492532|PMID:28591191|PMID:28702895|PMID:28837162|PMID:29287190|PMID:30075111|PMID:30426508|PMID:30927251|PMID:31700994|PMID:31991861|PMID:32235514|PMID:33118316|PMID:33471991|PMID:34117267
1307897	Fancm	FA complementation group M	gene	DOID:1909	melanoma		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307897	Fancm	FA complementation group M	gene	DOID:1967	leiomyosarcoma		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leiomyosarcoma	PMID:17289582|PMID:18174376|PMID:19379763|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:26467025|PMID:28492532|PMID:28591191|PMID:28702895|PMID:28837162|PMID:29287190|PMID:30075111|PMID:30426508|PMID:30927251|PMID:31700994|PMID:31991861|PMID:32235514|PMID:33118316|PMID:33471991|PMID:34117267
1307897	Fancm	FA complementation group M	gene	DOID:2154	nephroblastoma		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephroblastoma	PMID:17289582|PMID:18174376|PMID:19379763|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:26467025|PMID:28492532|PMID:28591191|PMID:28702895|PMID:28837162|PMID:29287190|PMID:30075111|PMID:30426508|PMID:30927251|PMID:31700994|PMID:31991861|PMID:32235514|PMID:33118316|PMID:33471991|PMID:34117267
1307897	Fancm	FA complementation group M	gene	DOID:2155	malignant ovarian germ cell neoplasm		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant germ cell tumor of ovary	PMID:17289582|PMID:18174376|PMID:19379763|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:26467025|PMID:28492532|PMID:28591191|PMID:28702895|PMID:28837162|PMID:29287190|PMID:30075111|PMID:30426508|PMID:30927251|PMID:31700994|PMID:31991861|PMID:32235514|PMID:33118316|PMID:33471991|PMID:34117267
1307897	Fancm	FA complementation group M	gene	DOID:3275	thymoma		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307897	Fancm	FA complementation group M	gene	DOID:3459	breast carcinoma		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:17289582|PMID:18174376|PMID:19379763|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:26467025|PMID:28492532|PMID:28591191|PMID:28702895|PMID:28837162|PMID:29287190|PMID:30075111|PMID:30426508|PMID:30927251|PMID:31700994|PMID:31991861|PMID:32235514|PMID:33118316|PMID:33471991|PMID:34117267
1307897	Fancm	FA complementation group M	gene	DOID:3883	Lynch syndrome		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms	PMID:17289582|PMID:18174376|PMID:19379763|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:26467025|PMID:28492532|PMID:28591191|PMID:28702895|PMID:28837162|PMID:29287190|PMID:30075111|PMID:30426508|PMID:30927251|PMID:31700994|PMID:31991861|PMID:32235514|PMID:33118316|PMID:33471991|PMID:34117267
1307897	Fancm	FA complementation group M	gene	DOID:4362	cervical cancer		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307897	Fancm	FA complementation group M	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1307897	Fancm	FA complementation group M	gene	DOID:5041	esophageal cancer		ISO	RGD:1317358	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307897	Fancm	FA complementation group M	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1317358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307897	Fancm	FA complementation group M	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1317358	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532|PMID:32566746
1307897	Fancm	FA complementation group M	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1317358	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17576681|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28881617|PMID:29760528|PMID:31428572|PMID:31921681|PMID:32566746|PMID:33471991|PMID:36534659|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1317358	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17576681|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28881617|PMID:29760528|PMID:31428572|PMID:31921681|PMID:32566746|PMID:33471991|PMID:36534659|PMID:36707629|PMID:37349538|PMID:37646306|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1317358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32566746|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1317358	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307897	Fancm	FA complementation group M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307897	Fancm	FA complementation group M	gene	DOID:630	genetic disease		ISO	RGD:1317358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32235514|PMID:32566746|PMID:33471991|PMID:34326862|PMID:38874686
1307897	Fancm	FA complementation group M	gene	DOID:630	genetic disease		ISO	RGD:1317358	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32235514|PMID:33471991|PMID:34326862|PMID:38874686
1307897	Fancm	FA complementation group M	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307897	Fancm	FA complementation group M	gene	DOID:768	retinoblastoma		ISO	RGD:1317358	D	RGD:8554872	20190409	ClinVar		ClinVar Annotator: match by term: Retinoblastoma	PMID:25741868
1307897	Fancm	FA complementation group M	gene	DOID:9000727	Syncope		ISO	RGD:1317358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:28492532
1307897	Fancm	FA complementation group M	gene	DOID:9002458	Roifman Syndrome		ISO	RGD:1317358	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY	PMID:25741868|PMID:26467025|PMID:28492532
1307897	Fancm	FA complementation group M	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1317358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307897	Fancm	FA complementation group M	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1317358	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17289582|PMID:18174376|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131
1307897	Fancm	FA complementation group M	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1317358	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17289582|PMID:18174376|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131
1307897	Fancm	FA complementation group M	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1317358	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17289582|PMID:18174376|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27713038|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29217778|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31589614|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33099839|PMID:33471991|PMID:34174131|PMID:34326862|PMID:34646395|PMID:35495172|PMID:36534659
1307897	Fancm	FA complementation group M	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1317358	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17289582|PMID:18174376|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27713038|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29217778|PMID:29287190|PMID:29338072|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31589614|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33099839|PMID:33471991|PMID:34174131|PMID:34326862|PMID:34628056|PMID:34646395|PMID:35495172|PMID:35802266|PMID:36534659|PMID:36551643|PMID:36707629|PMID:37646306|PMID:37656691
1307897	Fancm	FA complementation group M	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1317358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:19737859|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28678401|PMID:28881617|PMID:29351780|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30995915|PMID:31263571|PMID:32268276|PMID:32868804|PMID:33471991|PMID:36707629|PMID:38103590
1307897	Fancm	FA complementation group M	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1317358	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28678401|PMID:28881617|PMID:29895858|PMID:30075111|PMID:31263571|PMID:32868804|PMID:32906206|PMID:33471991
1307897	Fancm	FA complementation group M	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:19737859|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28678401|PMID:28881617|PMID:29351780|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30995915|PMID:31263571|PMID:32268276|PMID:32868804|PMID:33471991|PMID:38103590
1307897	Fancm	FA complementation group M	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317358	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:17289582|PMID:18174376|PMID:19379763|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26130695|PMID:26467025|PMID:26822949|PMID:28033443|PMID:28492532|PMID:28591191|PMID:28702895|PMID:28837162|PMID:29231814|PMID:29287190|PMID:30075111|PMID:30426508|PMID:30927251|PMID:31263571|PMID:31589614|PMID:31700994|PMID:31991861|PMID:32054657|PMID:32235514|PMID:32338768|PMID:33099839|PMID:33118316|PMID:33471991|PMID:34117267
1307897	Fancm	FA complementation group M	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17289582|PMID:18174376|PMID:19379763|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:26467025|PMID:28492532|PMID:28591191|PMID:28702895|PMID:28837162|PMID:29287190|PMID:30075111|PMID:30426508|PMID:30927251|PMID:31700994|PMID:31991861|PMID:32235514|PMID:33036707|PMID:33118316|PMID:33471991|PMID:34117267
1307897	Fancm	FA complementation group M	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317358	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:17289582|PMID:18174376|PMID:19379763|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:26467025|PMID:28492532|PMID:28591191|PMID:28702895|PMID:28837162|PMID:29287190|PMID:30075111|PMID:30426508|PMID:30927251|PMID:31700994|PMID:31991861|PMID:32235514|PMID:33118316|PMID:33471991|PMID:34117267
1307897	Fancm	FA complementation group M	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307897	Fancm	FA complementation group M	gene	DOID:9256	colorectal cancer		ISO	RGD:1317358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307898	Snx33	sorting nexin 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307898	Snx33	sorting nexin 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307898	Snx33	sorting nexin 33	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307900	Ifitm5	interferon induced transmembrane protein 5	gene	DOID:0110344	osteogenesis imperfecta type 5		ISO	RGD:1606092	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307900	Ifitm5	interferon induced transmembrane protein 5	gene	DOID:0110344	osteogenesis imperfecta type 5		ISO	RGD:1606092	D	RGD:7240710	20130221	OMIM			
1307900	Ifitm5	interferon induced transmembrane protein 5	gene	DOID:0110344	osteogenesis imperfecta type 5		ISO	RGD:1606092	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: IFITM5-related condition | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE V | ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 | ClinVar Annotator: match by term: Type V OI	PMID:24293101|PMID:24478195|PMID:24519609|PMID:25741868|PMID:28492532|PMID:29595812|PMID:30039845|PMID:30289614|PMID:30985308|PMID:31994750|PMID:34156493|PMID:34567078|PMID:37799085
1307900	Ifitm5	interferon induced transmembrane protein 5	gene	DOID:0110344	osteogenesis imperfecta type 5		ISS	RGD:1317362	D	RGD:13592920	20240425	MouseDO		OMIM:610967	
1307900	Ifitm5	interferon induced transmembrane protein 5	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1606092	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316
1307900	Ifitm5	interferon induced transmembrane protein 5	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1606092	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:28725987|PMID:31099171|PMID:31159867|PMID:32383316
1307900	Ifitm5	interferon induced transmembrane protein 5	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1606092	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:25741868|PMID:28492532
1307900	Ifitm5	interferon induced transmembrane protein 5	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1606092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:25741868
1307900	Ifitm5	interferon induced transmembrane protein 5	gene	DOID:630	genetic disease		ISO	RGD:1606092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307901	Tmem38a	transmembrane protein 38a	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307901	Tmem38a	transmembrane protein 38a	gene	DOID:0080600	COVID-19		ISO	RGD:1351909	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307901	Tmem38a	transmembrane protein 38a	gene	DOID:10534	stomach cancer		ISO	RGD:1351909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307901	Tmem38a	transmembrane protein 38a	gene	DOID:3070	high grade glioma		ISO	RGD:1351909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307901	Tmem38a	transmembrane protein 38a	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307901	Tmem38a	transmembrane protein 38a	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307901	Tmem38a	transmembrane protein 38a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307901	Tmem38a	transmembrane protein 38a	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307901	Tmem38a	transmembrane protein 38a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307902	Mtmr12	myotubularin related protein 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307902	Mtmr12	myotubularin related protein 12	gene	DOID:3070	high grade glioma		ISO	RGD:1317364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307902	Mtmr12	myotubularin related protein 12	gene	DOID:3275	thymoma		ISO	RGD:1317364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307902	Mtmr12	myotubularin related protein 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307902	Mtmr12	myotubularin related protein 12	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317364	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307902	Mtmr12	myotubularin related protein 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307902	Mtmr12	myotubularin related protein 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307903	Stxbp4	syntaxin binding protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307903	Stxbp4	syntaxin binding protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1317366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307903	Stxbp4	syntaxin binding protein 4	gene	DOID:1909	melanoma		ISO	RGD:1317366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307903	Stxbp4	syntaxin binding protein 4	gene	DOID:3275	thymoma		ISO	RGD:1317366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307903	Stxbp4	syntaxin binding protein 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307903	Stxbp4	syntaxin binding protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1317366	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307903	Stxbp4	syntaxin binding protein 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307903	Stxbp4	syntaxin binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307903	Stxbp4	syntaxin binding protein 4	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317366	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1307903	Stxbp4	syntaxin binding protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0060046	aphasia		ISO	RGD:1604541	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aphasia	PMID:22492562|PMID:23427196|PMID:25741868|PMID:28492532|PMID:28973083|PMID:32887222|PMID:33128823|PMID:33962821|PMID:33972171
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1604541	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:22492562|PMID:23427196|PMID:25741868|PMID:28492532|PMID:28973083|PMID:32887222|PMID:33128823|PMID:33962821|PMID:33972171
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1604541	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:25741868|PMID:28492532|PMID:31680123
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111493	combined oxidative phosphorylation deficiency 12		ISO	RGD:1604541	D	RGD:7240710	20140903	OMIM			
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111493	combined oxidative phosphorylation deficiency 12		ISO	RGD:1604541	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 12 | ClinVar Annotator: match by term: EARS2-related condition | ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	PMID:22492562|PMID:23427196|PMID:24706556|PMID:25476837|PMID:25741868|PMID:26741492|PMID:26780086|PMID:27117034|PMID:27290639|PMID:28492532|PMID:28748214|PMID:28973083|PMID:30831263|PMID:31520968|PMID:31665838|PMID:31980526|PMID:32887222|PMID:33128823|PMID:33258288|PMID:33962821|PMID:33972171|PMID:34018027|PMID:34440436|PMID:37377599|PMID:37597066|PMID:38129218|PMID:38465286|PMID:39173847
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:1604541	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22492562|PMID:23427196|PMID:25741868|PMID:28492532|PMID:28973083|PMID:32887222|PMID:33128823|PMID:33962821|PMID:33972171
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:11830	myopia		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:1596	depressive disorder		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:2468	psychotic disorder		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1604541	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532|PMID:28748214|PMID:28748215|PMID:31680123
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9001733	Tinnitus		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003126	Hallucinations		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003539	Hyperacusis		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005077	Joint Instability		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1307904	Ears2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008023	Memory Disorders		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
1307905	Kntc1	kinetochore associated 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307905	Kntc1	kinetochore associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307905	Kntc1	kinetochore associated 1	gene	DOID:10283	prostate cancer		ISO	RGD:1317369	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1307905	Kntc1	kinetochore associated 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307905	Kntc1	kinetochore associated 1	gene	DOID:10907	microcephaly		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1307905	Kntc1	kinetochore associated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307905	Kntc1	kinetochore associated 1	gene	DOID:1115	sarcoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307905	Kntc1	kinetochore associated 1	gene	DOID:1324	lung cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307905	Kntc1	kinetochore associated 1	gene	DOID:1909	melanoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307905	Kntc1	kinetochore associated 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307905	Kntc1	kinetochore associated 1	gene	DOID:3070	high grade glioma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307905	Kntc1	kinetochore associated 1	gene	DOID:3275	thymoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307905	Kntc1	kinetochore associated 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307905	Kntc1	kinetochore associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307905	Kntc1	kinetochore associated 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307905	Kntc1	kinetochore associated 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317369	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307905	Kntc1	kinetochore associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307905	Kntc1	kinetochore associated 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307905	Kntc1	kinetochore associated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307905	Kntc1	kinetochore associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307905	Kntc1	kinetochore associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307905	Kntc1	kinetochore associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307905	Kntc1	kinetochore associated 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307906	Get3	guided entry of tail-anchored proteins factor 3, ATPase	gene	DOID:10283	prostate cancer		ISO	RGD:1317371	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1307906	Get3	guided entry of tail-anchored proteins factor 3, ATPase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307906	Get3	guided entry of tail-anchored proteins factor 3, ATPase	gene	DOID:3275	thymoma		ISO	RGD:1317371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307906	Get3	guided entry of tail-anchored proteins factor 3, ATPase	gene	DOID:4362	cervical cancer		ISO	RGD:1317371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307906	Get3	guided entry of tail-anchored proteins factor 3, ATPase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307906	Get3	guided entry of tail-anchored proteins factor 3, ATPase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307906	Get3	guided entry of tail-anchored proteins factor 3, ATPase	gene	DOID:9008315	Dilated Cardiomyopathy 2H		ISO	RGD:1317371	D	RGD:7240710	20230125	OMIM			
1307906	Get3	guided entry of tail-anchored proteins factor 3, ATPase	gene	DOID:9008315	Dilated Cardiomyopathy 2H		ISO	RGD:1317371	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2H	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:10534	stomach cancer		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:1115	sarcoma		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:1324	lung cancer		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:3275	thymoma		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:5041	esophageal cancer		ISO	RGD:1605922	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27148590
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307907	Tmem87b	transmembrane protein 87B	gene	DOID:9256	colorectal cancer		ISO	RGD:1605922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307908	Ing5	inhibitor of growth family, member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307908	Ing5	inhibitor of growth family, member 5	gene	DOID:1324	lung cancer		ISO	RGD:1317373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307908	Ing5	inhibitor of growth family, member 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307908	Ing5	inhibitor of growth family, member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1317373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307908	Ing5	inhibitor of growth family, member 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307908	Ing5	inhibitor of growth family, member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307908	Ing5	inhibitor of growth family, member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307908	Ing5	inhibitor of growth family, member 5	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1307909	Banf2	BANF family member 2	gene	DOID:1909	melanoma		ISO	RGD:1317375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307909	Banf2	BANF family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307910	Pcbp4	poly(rC) binding protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307910	Pcbp4	poly(rC) binding protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1317376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307910	Pcbp4	poly(rC) binding protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1317376	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307910	Pcbp4	poly(rC) binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307910	Pcbp4	poly(rC) binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307910	Pcbp4	poly(rC) binding protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307911	Wbp11	WW domain binding protein 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307911	Wbp11	WW domain binding protein 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307911	Wbp11	WW domain binding protein 11	gene	DOID:0080073	spina bifida occulta		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:10485	esophageal atresia		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:10534	stomach cancer		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307911	Wbp11	WW domain binding protein 11	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307911	Wbp11	WW domain binding protein 11	gene	DOID:1324	lung cancer		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307911	Wbp11	WW domain binding protein 11	gene	DOID:14766	renal agenesis		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:1657	ventricular septal defect		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:420	hypertrichosis		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:4362	cervical cancer		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307911	Wbp11	WW domain binding protein 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307911	Wbp11	WW domain binding protein 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307911	Wbp11	WW domain binding protein 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307911	Wbp11	WW domain binding protein 11	gene	DOID:630	genetic disease		ISO	RGD:1317378	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9001031	Retrognathia		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9001510	Funnel Chest		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9007661	Dwarfism		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9008737	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS		ISO	RGD:1317378	D	RGD:7240710	20210421	OMIM			
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9008737	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS		ISO	RGD:1317378	D	RGD:8554872	20210420	ClinVar		ClinVar Annotator: match by term: Vertebral, cardiac, tracheoesophageal, renal, and limb defects | ClinVar Annotator: match by term: WBP11 spliceosomopathy	PMID:25741868|PMID:33276377
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1317378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
1307911	Wbp11	WW domain binding protein 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307912	Phc2	polyhomeotic homolog 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307912	Phc2	polyhomeotic homolog 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307912	Phc2	polyhomeotic homolog 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307912	Phc2	polyhomeotic homolog 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307912	Phc2	polyhomeotic homolog 2	gene	DOID:3275	thymoma		ISO	RGD:1317380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307912	Phc2	polyhomeotic homolog 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307912	Phc2	polyhomeotic homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307912	Phc2	polyhomeotic homolog 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307912	Phc2	polyhomeotic homolog 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307912	Phc2	polyhomeotic homolog 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307912	Phc2	polyhomeotic homolog 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307914	Ptdss2	phosphatidylserine synthase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307914	Ptdss2	phosphatidylserine synthase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307914	Ptdss2	phosphatidylserine synthase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307914	Ptdss2	phosphatidylserine synthase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307915	Ammecr1l	AMMECR1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307915	Ammecr1l	AMMECR1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307915	Ammecr1l	AMMECR1 like	gene	DOID:1115	sarcoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307915	Ammecr1l	AMMECR1 like	gene	DOID:1909	melanoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307915	Ammecr1l	AMMECR1 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307915	Ammecr1l	AMMECR1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307915	Ammecr1l	AMMECR1 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307915	Ammecr1l	AMMECR1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1317388	D	RGD:4890373|PMID:18447576	20101215	RGD		protein:increased expression:lung,bronchoalveolar lavage fluid:	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0050851	glomerulosclerosis		IDA		D	RGD:7207203|PMID:20406136	20130123	RGD		associated with Hyperhomocysteinemia	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0050851	glomerulosclerosis		IEP		D	RGD:7207363|PMID:21275176	20130130	RGD		protein:decreased expression:kidney (rat)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0050855	renal fibrosis		ISO	RGD:1317388	D	RGD:7207134|PMID:14674437	20130122	RGD		human gene in mouse model; associated with Diabetes Mellitus, Experimental	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0051061	stroke		ISO	RGD:1317388	D	RGD:1582542|PMID:11720009	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1317388	D	RGD:8549736|PMID:19734590	20140402	RGD		protein:increased expression:papillary muscle of left ventricle	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1317388	D	RGD:8693675|PMID:20935575	20140717	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0060249	scoliosis		IEP		D	RGD:7207288|PMID:21554726	20130129	RGD		protein:increased expression:intervertebral disc (rat)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0060642	recessive dystrophic epidermolysis bullosa		ISO	RGD:1317388	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa	PMID:25741868|PMID:28492532
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0060903	thrombosis		ISO	RGD:1317388	D	RGD:7207048|PMID:20616161	20180105	RGD		associated with Arteriovenous Fistula;DNA:insertion:promoter:g.-1607insG (rs11292517) (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:1317388	D	RGD:8554872	20240702	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1317388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21664615
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1317388	D	RGD:38501088|PMID:32696007	20200817	RGD		protein:increased expression:plasma (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0080745	polymyositis		ISO	RGD:1317389	D	RGD:8547876|PMID:11157561	20140227	RGD		mRNA:increased expression:skeletal muscle	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:0080933	immunoglobulin light chain amyloidosis		ISO	RGD:1317388	D	RGD:7207084|PMID:16164636	20130121	RGD		protein:increased expression:renal glomeruli (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:10223	dermatomyositis		ISO	RGD:1317389	D	RGD:8547876|PMID:11157561	20140227	RGD		mRNA:increased expression:skeletal muscle	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1317388	D	RGD:8549724|PMID:23441116	20140402	RGD		DNA:SNP:promoter:rs1799750 (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:1070	primary open angle glaucoma	no_association	ISO	RGD:1317388	D	RGD:8549725|PMID:20808730	20140402	RGD		DNA:insertion:promoter:g.-1607insG rs1799750 (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:10763	hypertension		ISO	RGD:1317388	D	RGD:1582532|PMID:15363819	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:10763	hypertension		ISO	RGD:1317388	D	RGD:2312464|PMID:19506087	20130118	RGD		protein:decreased expression:renal glomerulus (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:1317388	D	RGD:7794712|PMID:12768791	20140402	RGD		protein:increased expression:skin	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317388	D	RGD:7207077|PMID:17986285	20130121	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:11054	urinary bladder cancer	severity	ISO	RGD:1317388	D	RGD:7207140|PMID:11705862	20130122	RGD		protein:increased expression:urine (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1317388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1317388	D	RGD:1582538|PMID:12952838	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317388	D	RGD:1582541|PMID:12167381	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:12930	dilated cardiomyopathy	severity	ISO	RGD:1317388	D	RGD:4890382|PMID:17178334	20101215	RGD		mRNA:increased expression:myocardium (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:13001	carotid stenosis		ISO	RGD:1317388	D	RGD:1580553|PMID:12364729	19990101	RGD		DNA:insertion, haplotype:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317388	D	RGD:4890379|PMID:19963114	20101215	RGD		DNA:insertion, haplotype:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317388	D	RGD:5131088|PMID:15718477	20110420	RGD		associated with Respiratory Tract Diseases	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1317388	D	RGD:7207021|PMID:11691799	20130116	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:13641	exfoliation syndrome	no_association	ISO	RGD:1317388	D	RGD:8549725|PMID:20808730	20140402	RGD		DNA:insertion:promoter:g.-1607insG rs1799750 (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1317388	D	RGD:1582351|PMID:16820601	20190122	RGD		protein:decreased expression:aorta (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1317388	D	RGD:1582530|PMID:15561045	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:1612	breast cancer		ISO	RGD:1317388	D	RGD:2298552|PMID:18366705	20140402	RGD		protein:decreased expression:plasma	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1317388	D	RGD:7207143|PMID:21835023	20130122	RGD		protein:increased expression:breast, stromal cell (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1317388	D	RGD:7207138|PMID:12473595	20130122	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:1712	aortic valve stenosis		ISO	RGD:1317388	D	RGD:1582522|PMID:15780799	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:1936	atherosclerosis		ISO	RGD:1317388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21742783
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:1936	atherosclerosis	susceptibility	ISO	RGD:1317388	D	RGD:7207025|PMID:11375412	20130116	RGD		human gene in mouse model	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:2320	obstructive lung disease	severity	ISO	RGD:1317388	D	RGD:4890377|PMID:11875051	20101215	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:1317388	D	RGD:1582525|PMID:15621056	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1317388	D	RGD:7207020|PMID:10485461	20130116	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:2841	asthma		ISO	RGD:1317388	D	RGD:11554173	20190702	CTD		CTD Direct Evidence: marker/mechanism	PMID:24469321
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:3083	chronic obstructive pulmonary disease		IEP		D	RGD:7207216|PMID:23173262	20130124	RGD		mRNA:increased expression:bone (rat)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1317388	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease | ClinVar Annotator: match by term: PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN	PMID:25741868|PMID:28492532
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1317388	D	RGD:7207054|PMID:19796283	20130117	RGD		protein:increased expression:serum (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1317388	D	RGD:7207049|PMID:17893005	20130117	RGD		DNA:insertion, haplotype:promoter:g.-1607insG rs799750 (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:1317388	D	RGD:1582527|PMID:15619398	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:3407	carotid artery disease	severity	ISO	RGD:1317388	D	RGD:1582361|PMID:15073384	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:3770	pulmonary fibrosis		IDA		D	RGD:7207277|PMID:22571259	20130129	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1317388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20471133
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:418	systemic scleroderma		ISO	RGD:1317388	D	RGD:8548651|PMID:22286923	20140402	RGD		mRNA:decreased expression:skin	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:418	systemic scleroderma	severity	ISO	RGD:1317388	D	RGD:8693663|PMID:12051403	20140717	RGD		protein:increased expression:serum	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:4362	cervical cancer	disease_progression	ISO	RGD:1317388	D	RGD:7207024|PMID:14550952	20130116	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:4450	renal cell carcinoma	no_association	ISO	RGD:1317388	D	RGD:7207082|PMID:17980059	20130121	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:4450	renal cell carcinoma	susceptibility	ISO	RGD:1317388	D	RGD:7207023|PMID:12845675	20130116	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:4914	esophagus adenocarcinoma	susceptibility	ISO	RGD:1317388	D	RGD:7207058|PMID:19321798	20130117	RGD		DNA:insertion:promoter:g.-1607insG rs1799750 (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:4959	epidermolysis bullosa dystrophica		ISO	RGD:1317388	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE	PMID:25741868|PMID:28492532
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:4959	epidermolysis bullosa dystrophica	severity	ISO	RGD:1317388	D	RGD:8549728|PMID:18030675	20140402	RGD		DNA:insertion:promoter:g.-1607_-1606insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317388	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:5082	liver cirrhosis		IDA		D	RGD:7207132|PMID:16124044	20130122	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:5082	liver cirrhosis	severity	IEP		D	RGD:7207396|PMID:14606082	20130131	RGD		protein:decreased expression:serum (rat)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:5517	stomach carcinoma		ISO	RGD:1317388	D	RGD:7206857|PMID:20944126	20130116	RGD		mRNA:increased expression:gastric mucosa (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:1317388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16311067
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:5844	myocardial infarction		IDA		D	RGD:7207136|PMID:11179039	20130122	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:5844	myocardial infarction		IEP		D	RGD:7207198|PMID:8531210	20130123	RGD		protein:increased expression, increased activity:heart left ventricle (rat)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1317388	D	RGD:1582535|PMID:15009768	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1317388	D	RGD:7207135|PMID:19797822	20130122	RGD		human gene in rat model	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1317388	D	RGD:1582520|PMID:16210545	20061113	RGD		associated with Coronary Artery Disease; DNA:snps, haplotype:promoter:g.-519A>G, g.-340T>C (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:6000	congestive heart failure		IDA		D	RGD:7207282|PMID:21866669	20130129	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1317388	D	RGD:1582539|PMID:12892382	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:6432	pulmonary hypertension		IDA		D	RGD:7207217|PMID:23087098	20130124	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1317388	D	RGD:7207129|PMID:9972954	20130122	RGD		protein:increased expression:plasma (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1317388	D	RGD:1582519|PMID:16293969	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:783	end stage renal disease	no_association	ISO	RGD:1317388	D	RGD:7206856|PMID:22401717	20130128	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:783	end stage renal disease	severity	ISO	RGD:1317388	D	RGD:7207064|PMID:19221176	20130118	RGD		DNA:insertion, haplotype:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:799	varicose veins		ISO	RGD:1317388	D	RGD:1582540|PMID:12175972	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:824	periodontitis		ISO	RGD:1317388	D	RGD:7207044|PMID:11876270	20130117	RGD		protein:increased expression, increased activity:gingiva, gingival crevicular fluid (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:8398	osteoarthritis		ISO	RGD:1317388	D	RGD:7207129|PMID:9972954	20130122	RGD		protein:increased expression:plasma (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:8472	localized scleroderma		ISO	RGD:1317388	D	RGD:1582543|PMID:9804345	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:8577	ulcerative colitis		IDA		D	RGD:7207395|PMID:18837084	20130131	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:1317388	D	RGD:1582536|PMID:14675588	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:8923	skin melanoma		ISO	RGD:1317388	D	RGD:8549726|PMID:20655738	20140402	RGD		DNA:polymorphisms, haplotypes:promoter:multiple	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:1317388	D	RGD:8549727|PMID:22198560	20140402	RGD		DNA:SNPs, haplotype:promoter:multiple	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1317388	D	RGD:7207194|PMID:10644865	20130123	RGD		protein:increased expression:serum (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:90	degenerative disc disease		IDA		D	RGD:7207382|PMID:19916288	20130130	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9000438	Subarachnoid Hemorrhage	no_association	ISO	RGD:1317388	D	RGD:1582365|PMID:11546917	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1317388	D	RGD:1582537|PMID:14499230	20061113	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1317388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12538496|PMID:19487542|PMID:22580338|PMID:23548910
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:1317388	D	RGD:7206856|PMID:22401717	20130116	RGD		mRNA:increased expression:gingiva (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9001004	Chronic Periodontitis	no_association	ISO	RGD:1317388	D	RGD:7207046|PMID:15312099	20130117	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9001004	Chronic Periodontitis	severity	ISO	RGD:1317388	D	RGD:7207045|PMID:12622858	20130117	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1317388	D	RGD:8549735|PMID:23064462	20140402	RGD		associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:12557150
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9001617	Congenital Nephrotic Syndrome with or without Ocular Abnormalities		ISO	RGD:1317389	D	RGD:7207147|PMID:11014984	20130122	RGD		protein:decreased activity:kidney (mouse)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9001665	Aneurysm		ISO	RGD:1317388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21742783
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9002221	Hyperplasia		IDA		D	RGD:7207219|PMID:22860019	20130124	RGD		Intimal Hyperplasia	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1317388	D	RGD:7207056|PMID:19843588	20130117	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9002331	Knee Osteoarthritis	treatment	IEP		D	RGD:8549737|PMID:21167838	20140402	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9002457	Experimental Arthritis		IDA		D	RGD:7207362|PMID:21288455	20130130	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9002457	Experimental Arthritis		IDA		D	RGD:7207365|PMID:21108488	20130130	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9002457	Experimental Arthritis		IEP		D	RGD:8549748|PMID:24011916	20140403	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9002804	Amaurosis Fugax		ISO	RGD:1317388	D	RGD:1582361|PMID:15073384	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9002884	Emphysema		ISO	RGD:1317388	D	RGD:4890371|PMID:19293200	20101215	RGD		DNA:intron:snp:IVS1+18C>T rs470358 (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:1317389	D	RGD:7207133|PMID:15259001	20130122	RGD		protein:increased activity:lung, spleen (mouse)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9003817	Sudden Hearing Loss		ISO	RGD:1317388	D	RGD:8549733|PMID:21154774	20140402	RGD		DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9004484	Sepsis		IEP		D	RGD:8549749|PMID:23478082	20140403	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1317388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22580338
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1317388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23548910
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9005172	Lung Neoplasms	no_association	ISO	RGD:1317388	D	RGD:7207056|PMID:19843588	20130117	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:1317388	D	RGD:8549722|PMID:19622769	20140402	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9005384	Adult Cerebral Astrocytoma	susceptibility	ISO	RGD:1317388	D	RGD:7207034|PMID:17502998	19990101	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:7207377|PMID:20082587	20130130	RGD		protein:increased expression:periodontal ligament, alveolar bone of mandible (rat)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9005647	Experimental Autoimmune Uveitis	onset	IEP		D	RGD:7207388|PMID:19755419	20130130	RGD		mRNA, protein:increased expression:eye (rat)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9005700	Airway Obstruction		ISO	RGD:1317388	D	RGD:4890372|PMID:19191136	20101215	RGD		associated with Asthma; DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9006045	Dissecting Aneurysm		ISO	RGD:1317388	D	RGD:1582530|PMID:15561045	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:1317388	D	RGD:7207056|PMID:19843588	20130117	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9007838	Myocardial Reperfusion Injury		IEP		D	RGD:7207397|PMID:17996137	20130131	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1317388	D	RGD:1582539|PMID:12892382	20061113	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9007877	Fetal Hypoxia		IEP		D	RGD:7207283|PMID:21856922	20130129	RGD		protein:altered expression:heart (rat)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1317388	D	RGD:7207129|PMID:9972954	20130122	RGD		protein:increased expression:plasma (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1317388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23548910
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9008443	Colorectal Neoplasms	severity	ISO	RGD:1317388	D	RGD:7207022|PMID:11489811	20130116	RGD		DNA:insertion:promoter:g.-1607insG (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9008856	HIV-Associated Lipodystrophy Syndrome		ISO	RGD:1317388	D	RGD:8549721|PMID:20852404	20140402	RGD		DNA:SNP	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23548910
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1317388	D	RGD:7207129|PMID:9972954	20130122	RGD		protein:increased expression:plasma (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1317388	D	RGD:7207058|PMID:19321798	20130117	RGD		DNA:insertion:promoter:g.-1607insG rs1799750 (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9282	ocular hypertension		ISO	RGD:1317388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:20089869
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9282	ocular hypertension	treatment	ISO	RGD:1317388	D	RGD:8549723|PMID:20089869	20140402	RGD			
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9352	type 2 diabetes mellitus		IEP		D	RGD:7207379|PMID:19951028	20130130	RGD		protein:increased expression:nucleus pulposus	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317388	D	RGD:2312464|PMID:19506087	20130118	RGD		protein:decreased expression:renal glomerulus (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1317388	D	RGD:4890375|PMID:17363767	20101215	RGD		DNA:insertion:promoter:g.-1607insG rs1799750 (human)	
1307917	Mmp1	matrix metallopeptidase 1	gene	DOID:971	tendinitis		IEP		D	RGD:8549751|PMID:22926534	20140403	RGD			
1307919	Mfap5	microfibril associated protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1307919	Mfap5	microfibril associated protein 5	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:28492532
1307919	Mfap5	microfibril associated protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307919	Mfap5	microfibril associated protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307919	Mfap5	microfibril associated protein 5	gene	DOID:11830	myopia		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1307919	Mfap5	microfibril associated protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1307919	Mfap5	microfibril associated protein 5	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1317391	D	RGD:8554872	20210518	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:25434006|PMID:25741868
1307919	Mfap5	microfibril associated protein 5	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1317391	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:25434006|PMID:25741868|PMID:28492532|PMID:29618732|PMID:33824467
1307919	Mfap5	microfibril associated protein 5	gene	DOID:1596	depressive disorder		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1307919	Mfap5	microfibril associated protein 5	gene	DOID:2030	anxiety disorder		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1307919	Mfap5	microfibril associated protein 5	gene	DOID:3275	thymoma		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1307919	Mfap5	microfibril associated protein 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1307919	Mfap5	microfibril associated protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1317391	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1307919	Mfap5	microfibril associated protein 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307919	Mfap5	microfibril associated protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307919	Mfap5	microfibril associated protein 5	gene	DOID:65	connective tissue disease		ISO	RGD:1317391	D	RGD:8554872	20180807	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868
1307919	Mfap5	microfibril associated protein 5	gene	DOID:9005077	Joint Instability		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1307919	Mfap5	microfibril associated protein 5	gene	DOID:9006654	Familial Thoracic Aortic Aneurysm 9		ISO	RGD:1317391	D	RGD:7240710	20171011	OMIM			
1307919	Mfap5	microfibril associated protein 5	gene	DOID:9006654	Familial Thoracic Aortic Aneurysm 9		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 9 | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9 | ClinVar Annotator: match by term: MFAP5-related condition	PMID:25434006|PMID:25741868|PMID:26854089|PMID:28492532|PMID:28550590|PMID:30739908
1307919	Mfap5	microfibril associated protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307919	Mfap5	microfibril associated protein 5	gene	DOID:9007614	Paroxysmal Atrial Fibrillation		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: paroxysmal atrial fibrillation	PMID:25741868
1307919	Mfap5	microfibril associated protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:10534	stomach cancer		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:1115	sarcoma		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:1909	melanoma		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:3070	high grade glioma		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:3275	thymoma		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:4362	cervical cancer		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1317393	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307920	Tbc1d15	TBC1 domain family, member 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307921	Ldb2	LIM domain binding 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307921	Ldb2	LIM domain binding 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307922	Tmem9	transmembrane protein 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307922	Tmem9	transmembrane protein 9	gene	DOID:10534	stomach cancer		ISO	RGD:1317397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307922	Tmem9	transmembrane protein 9	gene	DOID:1909	melanoma		ISO	RGD:1317397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307922	Tmem9	transmembrane protein 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307922	Tmem9	transmembrane protein 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307924	Morc3	MORC family CW-type zinc finger 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307924	Morc3	MORC family CW-type zinc finger 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307924	Morc3	MORC family CW-type zinc finger 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307924	Morc3	MORC family CW-type zinc finger 3	gene	DOID:1115	sarcoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307924	Morc3	MORC family CW-type zinc finger 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307924	Morc3	MORC family CW-type zinc finger 3	gene	DOID:3275	thymoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307924	Morc3	MORC family CW-type zinc finger 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307924	Morc3	MORC family CW-type zinc finger 3	gene	DOID:4362	cervical cancer		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307924	Morc3	MORC family CW-type zinc finger 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307924	Morc3	MORC family CW-type zinc finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307924	Morc3	MORC family CW-type zinc finger 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307924	Morc3	MORC family CW-type zinc finger 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307924	Morc3	MORC family CW-type zinc finger 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307925	Tbc1d23	TBC1 domain family, member 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307925	Tbc1d23	TBC1 domain family, member 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307925	Tbc1d23	TBC1 domain family, member 23	gene	DOID:0112324	pontocerebellar hypoplasia type 11		ISO	RGD:1601860	D	RGD:7240710	20190315	OMIM			
1307925	Tbc1d23	TBC1 domain family, member 23	gene	DOID:0112324	pontocerebellar hypoplasia type 11		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 11 | ClinVar Annotator: match by term: TBC1D23-related condition	PMID:25741868|PMID:28823706|PMID:28823707|PMID:34582790
1307925	Tbc1d23	TBC1 domain family, member 23	gene	DOID:10534	stomach cancer		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307925	Tbc1d23	TBC1 domain family, member 23	gene	DOID:1324	lung cancer		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307925	Tbc1d23	TBC1 domain family, member 23	gene	DOID:3275	thymoma		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307925	Tbc1d23	TBC1 domain family, member 23	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307925	Tbc1d23	TBC1 domain family, member 23	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307925	Tbc1d23	TBC1 domain family, member 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1601860	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307925	Tbc1d23	TBC1 domain family, member 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307925	Tbc1d23	TBC1 domain family, member 23	gene	DOID:630	genetic disease		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307925	Tbc1d23	TBC1 domain family, member 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307925	Tbc1d23	TBC1 domain family, member 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307926	Cnnm3	cyclin and CBS domain divalent metal cation transport mediator 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307926	Cnnm3	cyclin and CBS domain divalent metal cation transport mediator 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307926	Cnnm3	cyclin and CBS domain divalent metal cation transport mediator 3	gene	DOID:1324	lung cancer		ISO	RGD:1317403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307926	Cnnm3	cyclin and CBS domain divalent metal cation transport mediator 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307926	Cnnm3	cyclin and CBS domain divalent metal cation transport mediator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307926	Cnnm3	cyclin and CBS domain divalent metal cation transport mediator 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307926	Cnnm3	cyclin and CBS domain divalent metal cation transport mediator 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307927	Dennd1a	DENN domain containing 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307927	Dennd1a	DENN domain containing 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307927	Dennd1a	DENN domain containing 1A	gene	DOID:1115	sarcoma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307927	Dennd1a	DENN domain containing 1A	gene	DOID:1324	lung cancer		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307927	Dennd1a	DENN domain containing 1A	gene	DOID:1909	melanoma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307927	Dennd1a	DENN domain containing 1A	gene	DOID:3070	high grade glioma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307927	Dennd1a	DENN domain containing 1A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307927	Dennd1a	DENN domain containing 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1317405	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307927	Dennd1a	DENN domain containing 1A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307927	Dennd1a	DENN domain containing 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307927	Dennd1a	DENN domain containing 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307927	Dennd1a	DENN domain containing 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307927	Dennd1a	DENN domain containing 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307928	Lamp3	lysosome associated membrane protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307928	Lamp3	lysosome associated membrane protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1317407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307928	Lamp3	lysosome associated membrane protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307928	Lamp3	lysosome associated membrane protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307928	Lamp3	lysosome associated membrane protein 3	gene	DOID:9001488	Human Influenza		ISO	RGD:1317407	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1307928	Lamp3	lysosome associated membrane protein 3	gene	DOID:9001510	Funnel Chest		ISO	RGD:1317407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1307928	Lamp3	lysosome associated membrane protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:10283	prostate cancer		ISO	RGD:1605423	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:10283	prostate cancer		ISO	RGD:1605423	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:1909	melanoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605423	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307929	Bltp2	bridge-like lipid transfer protein family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307930	Paip2b	poly(A) binding protein interacting protein 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307930	Paip2b	poly(A) binding protein interacting protein 2B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307930	Paip2b	poly(A) binding protein interacting protein 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307932	Cldn4	claudin 4	gene	DOID:0060496	respiratory allergy		ISO	RGD:1317413	D	RGD:11554173	20190409	CTD		CTD Direct Evidence: marker/mechanism	PMID:30608172
1307932	Cldn4	claudin 4	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1317413	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1307932	Cldn4	claudin 4	gene	DOID:13976	peptic esophagitis		IEP		D	RGD:2317602|PMID:16143882	20100412	RGD		protein:altered localization:esophagus epithelium, cytoplasm	
1307932	Cldn4	claudin 4	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1317413	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:28377727
1307932	Cldn4	claudin 4	gene	DOID:1793	pancreatic cancer		ISO	RGD:1317413	D	RGD:2317580|PMID:19793693	20100412	RGD			
1307932	Cldn4	claudin 4	gene	DOID:1793	pancreatic cancer		ISO	RGD:1317413	D	RGD:2317583|PMID:19555390	20100412	RGD			
1307932	Cldn4	claudin 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1317413	D	RGD:2317583|PMID:19555390	20100412	RGD			
1307932	Cldn4	claudin 4	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1317413	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19142967
1307932	Cldn4	claudin 4	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1317413	D	RGD:2317592|PMID:15693851	20100412	RGD			
1307932	Cldn4	claudin 4	gene	DOID:9004009	Reperfusion Injury		IEP		D	RGD:2317600|PMID:17375208	20100412	RGD		protein:increased expression, altered localization:small intestine epithelium	
1307932	Cldn4	claudin 4	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1317413	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19142967
1307932	Cldn4	claudin 4	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317413	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19142967
1307933	Leng1	leukocyte receptor cluster member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307933	Leng1	leukocyte receptor cluster member 1	gene	DOID:1909	melanoma		ISO	RGD:1317415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307933	Leng1	leukocyte receptor cluster member 1	gene	DOID:3275	thymoma		ISO	RGD:1317415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307933	Leng1	leukocyte receptor cluster member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317415	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307933	Leng1	leukocyte receptor cluster member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307933	Leng1	leukocyte receptor cluster member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307933	Leng1	leukocyte receptor cluster member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307934	R3hcc1l	R3H domain and coiled-coil containing 1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307934	R3hcc1l	R3H domain and coiled-coil containing 1-like	gene	DOID:1115	sarcoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307934	R3hcc1l	R3H domain and coiled-coil containing 1-like	gene	DOID:1324	lung cancer		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307934	R3hcc1l	R3H domain and coiled-coil containing 1-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307934	R3hcc1l	R3H domain and coiled-coil containing 1-like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307934	R3hcc1l	R3H domain and coiled-coil containing 1-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1317417	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307934	R3hcc1l	R3H domain and coiled-coil containing 1-like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307934	R3hcc1l	R3H domain and coiled-coil containing 1-like	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307934	R3hcc1l	R3H domain and coiled-coil containing 1-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307934	R3hcc1l	R3H domain and coiled-coil containing 1-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307934	R3hcc1l	R3H domain and coiled-coil containing 1-like	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1307934	R3hcc1l	R3H domain and coiled-coil containing 1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307935	Dhrs11	dehydrogenase/reductase 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307935	Dhrs11	dehydrogenase/reductase 11	gene	DOID:1324	lung cancer		ISO	RGD:1601851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307935	Dhrs11	dehydrogenase/reductase 11	gene	DOID:1909	melanoma		ISO	RGD:1601851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307935	Dhrs11	dehydrogenase/reductase 11	gene	DOID:3070	high grade glioma		ISO	RGD:1601851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307935	Dhrs11	dehydrogenase/reductase 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1601851	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307935	Dhrs11	dehydrogenase/reductase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307935	Dhrs11	dehydrogenase/reductase 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307935	Dhrs11	dehydrogenase/reductase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307937	Clhc1	clathrin heavy chain linker domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307937	Clhc1	clathrin heavy chain linker domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307937	Clhc1	clathrin heavy chain linker domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307937	Clhc1	clathrin heavy chain linker domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1606727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307937	Clhc1	clathrin heavy chain linker domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606727	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307937	Clhc1	clathrin heavy chain linker domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307937	Clhc1	clathrin heavy chain linker domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1606727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307937	Clhc1	clathrin heavy chain linker domain containing 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606727	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307937	Clhc1	clathrin heavy chain linker domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307937	Clhc1	clathrin heavy chain linker domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307937	Clhc1	clathrin heavy chain linker domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1317423	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1317423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1317423	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:1909	melanoma		ISO	RGD:1317423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:3275	thymoma		ISO	RGD:1317423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307938	Morf4l1	mortality factor 4 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307939	Cpne8	copine 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307939	Cpne8	copine 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307939	Cpne8	copine 8	gene	DOID:1324	lung cancer		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307939	Cpne8	copine 8	gene	DOID:3275	thymoma		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307939	Cpne8	copine 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307939	Cpne8	copine 8	gene	DOID:4362	cervical cancer		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307939	Cpne8	copine 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1317425	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307939	Cpne8	copine 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307939	Cpne8	copine 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307939	Cpne8	copine 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307939	Cpne8	copine 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307939	Cpne8	copine 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:1909	melanoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:3275	thymoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:3307	teratoma		ISO	RGD:1317426	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1307940	Aff1	ALF transcription elongation factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:0060320	inguinal hernia		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:1115	sarcoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:11830	myopia		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:1909	melanoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:3275	thymoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317427	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317427	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317427	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1317427	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:9008163	Chronic Hepatitis B	susceptibility	ISO		D	RGD:40886317|PMID:22610944	20201207	RGD		DNA:SNP:exon: p.Ser1254Asn (human)	
1307941	Cemip2	cell migration inducing hyaluronidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307942	Mrpl58	mitochondrial ribosomal protein L58	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307942	Mrpl58	mitochondrial ribosomal protein L58	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307942	Mrpl58	mitochondrial ribosomal protein L58	gene	DOID:1909	melanoma		ISO	RGD:1317429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307942	Mrpl58	mitochondrial ribosomal protein L58	gene	DOID:3275	thymoma		ISO	RGD:1317429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307942	Mrpl58	mitochondrial ribosomal protein L58	gene	DOID:5041	esophageal cancer		ISO	RGD:1317429	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307942	Mrpl58	mitochondrial ribosomal protein L58	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307942	Mrpl58	mitochondrial ribosomal protein L58	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307943	Efcab10	EF-hand calcium binding domain 10	gene	DOID:5041	esophageal cancer		ISO	RGD:2301274	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307943	Efcab10	EF-hand calcium binding domain 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2301274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307943	Efcab10	EF-hand calcium binding domain 10	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:2301274	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25050558|PMID:25741868|PMID:26787654|PMID:27544226|PMID:28492532|PMID:31173646|PMID:31204009|PMID:32566746|PMID:33471991
1307944	Ppp1r15b	protein phosphatase 1, regulatory subunit 15B	gene	DOID:0080600	COVID-19		ISO	RGD:1317432	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
1307944	Ppp1r15b	protein phosphatase 1, regulatory subunit 15B	gene	DOID:1909	melanoma		ISO	RGD:1317432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307944	Ppp1r15b	protein phosphatase 1, regulatory subunit 15B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307944	Ppp1r15b	protein phosphatase 1, regulatory subunit 15B	gene	DOID:630	genetic disease		ISO	RGD:1317432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1307944	Ppp1r15b	protein phosphatase 1, regulatory subunit 15B	gene	DOID:9006272	Microcephaly, Short Stature, and Impaired Glucose Metabolism 2		ISO	RGD:1317432	D	RGD:7240710	20190315	OMIM			
1307944	Ppp1r15b	protein phosphatase 1, regulatory subunit 15B	gene	DOID:9006272	Microcephaly, Short Stature, and Impaired Glucose Metabolism 2		ISO	RGD:1317432	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 | ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 | ClinVar Annotator: match by term: PPP1R15B-related condition	PMID:25741868|PMID:26159176|PMID:26307080|PMID:28492532
1307944	Ppp1r15b	protein phosphatase 1, regulatory subunit 15B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:0061057	immunodeficiency 87		ISO	RGD:1317434	D	RGD:7240710	20211110	OMIM			
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:0061057	immunodeficiency 87		ISO	RGD:1317434	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEF6-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY | ClinVar Annotator: match by term: Immunodeficiency 87 and autoimmunity	PMID:25741868|PMID:28492532|PMID:31308374
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:11162	respiratory failure		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:11830	myopia		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:1596	depressive disorder		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:1909	melanoma		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:2030	anxiety disorder		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:2841	asthma		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:4362	cervical cancer		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1317434	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26808113
1307945	Def6	DEF6 guanine nucleotide exchange factor	gene	DOID:9074	systemic lupus erythematosus		ISS	RGD:1317435	D	RGD:13592920	20230718	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
1307947	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307947	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606480	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica	PMID:25741868|PMID:28492532|PMID:34196655
1307947	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606480	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16682973|PMID:16909394|PMID:17576681|PMID:19764032|PMID:20683928|PMID:21786365|PMID:23954617|PMID:25741868|PMID:27821535|PMID:28492532|PMID:29588463|PMID:30193310|PMID:34196655|PMID:9536098
1307947	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606480	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:16682973|PMID:16909394|PMID:17576681|PMID:19764032|PMID:20683928|PMID:21786365|PMID:23954617|PMID:25741868|PMID:27821535|PMID:28492532|PMID:29588463|PMID:30193310|PMID:31589614|PMID:32483926|PMID:34196655|PMID:9536098
1307947	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307947	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1606480	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:25741868|PMID:28492532|PMID:34196655
1307947	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:1909	melanoma		ISO	RGD:1606480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307947	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307947	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606480	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307947	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307947	Rlig1	RNA 5'-phosphate and 3'-OH ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307948	Zfp64	zinc finger protein 64	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307948	Zfp64	zinc finger protein 64	gene	DOID:10534	stomach cancer		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307948	Zfp64	zinc finger protein 64	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307948	Zfp64	zinc finger protein 64	gene	DOID:1324	lung cancer		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307948	Zfp64	zinc finger protein 64	gene	DOID:1909	melanoma		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307948	Zfp64	zinc finger protein 64	gene	DOID:4362	cervical cancer		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307948	Zfp64	zinc finger protein 64	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307948	Zfp64	zinc finger protein 64	gene	DOID:5041	esophageal cancer		ISO	RGD:1317439	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307948	Zfp64	zinc finger protein 64	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307948	Zfp64	zinc finger protein 64	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307948	Zfp64	zinc finger protein 64	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307949	Usp30	ubiquitin specific peptidase 30	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307949	Usp30	ubiquitin specific peptidase 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307949	Usp30	ubiquitin specific peptidase 30	gene	DOID:10534	stomach cancer		ISO	RGD:1317441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307949	Usp30	ubiquitin specific peptidase 30	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307949	Usp30	ubiquitin specific peptidase 30	gene	DOID:1324	lung cancer		ISO	RGD:1317441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307949	Usp30	ubiquitin specific peptidase 30	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307949	Usp30	ubiquitin specific peptidase 30	gene	DOID:3070	high grade glioma		ISO	RGD:1317441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307949	Usp30	ubiquitin specific peptidase 30	gene	DOID:3275	thymoma		ISO	RGD:1317441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307949	Usp30	ubiquitin specific peptidase 30	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307949	Usp30	ubiquitin specific peptidase 30	gene	DOID:4362	cervical cancer		ISO	RGD:1317441	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307949	Usp30	ubiquitin specific peptidase 30	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307949	Usp30	ubiquitin specific peptidase 30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307949	Usp30	ubiquitin specific peptidase 30	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307949	Usp30	ubiquitin specific peptidase 30	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307950	Glrx2	glutaredoxin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307950	Glrx2	glutaredoxin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317443	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307950	Glrx2	glutaredoxin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307950	Glrx2	glutaredoxin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:0050610	oral cavity carcinoma in situ	disease_progression	ISO	RGD:1317446	D	RGD:28867233|PMID:27499128	20200605	RGD			
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:0060058	lymphoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:0080600	COVID-19		ISO	RGD:1317446	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:0080909	castration-resistant prostate carcinoma	treatment	ISO	RGD:1317446	D	RGD:28867238|PMID:28498618	20200608	RGD			
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:10534	stomach cancer		ISO	RGD:1317446	D	RGD:28867241|PMID:19878654	20200608	RGD		mRNA:increased expression:stomach	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:10534	stomach cancer		ISO	RGD:1317446	D	RGD:28867243|PMID:19081476	20200608	RGD			
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:10534	stomach cancer		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:10907	microcephaly		ISO	RGD:1317446	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:1324	lung cancer		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1317446	D	RGD:28867230|PMID:31140425	20200605	RGD			
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1317446	D	RGD:28867231|PMID:31198978	20200605	RGD			
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:1793	pancreatic cancer		ISO	RGD:1317446	D	RGD:11058437|PMID:26045769	20200605	RGD		mRNA:increased expression:pancreas	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1317446	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:1317446	D	RGD:28867234|PMID:27237743	20200605	RGD			
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:3275	thymoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1317446	D	RGD:28867236|PMID:17079454	20200608	RGD			
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1317446	D	RGD:28912743|PMID:32226507	20200610	RGD			
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:4362	cervical cancer		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:4961	bone marrow disease		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317446	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1317446	D	RGD:28912742|PMID:31933938	20200610	RGD			
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1317446	D	RGD:28867240|PMID:30653265	20200608	RGD			
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:9005616	Micrognathism		ISO	RGD:1317446	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:9007661	Dwarfism		ISO	RGD:1317446	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:9256	colorectal cancer		ISO	RGD:1317446	D	RGD:28867241|PMID:19878654	20200608	RGD		mRNA:increased expression:colorectum	
1307952	Nuf2	NUF2 component of NDC80 kinetochore complex	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1317446	D	RGD:28867244|PMID:24247253	20200608	RGD			
1307953	Slc38a12	solute carrier family 38 member 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307953	Slc38a12	solute carrier family 38 member 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307953	Slc38a12	solute carrier family 38 member 12	gene	DOID:1115	sarcoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307953	Slc38a12	solute carrier family 38 member 12	gene	DOID:1909	melanoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307953	Slc38a12	solute carrier family 38 member 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307953	Slc38a12	solute carrier family 38 member 12	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1606542	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1307953	Slc38a12	solute carrier family 38 member 12	gene	DOID:4362	cervical cancer		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307953	Slc38a12	solute carrier family 38 member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307953	Slc38a12	solute carrier family 38 member 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307953	Slc38a12	solute carrier family 38 member 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307954	Prr5	proline rich 5	gene	DOID:3275	thymoma		ISO	RGD:1604351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307954	Prr5	proline rich 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307954	Prr5	proline rich 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0050460	Wolf-Hirschhorn syndrome		ISO	RGD:1317450	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24874954
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0050460	Wolf-Hirschhorn syndrome		ISO	RGD:1317450	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Wolf-Hirschhorn syndrome	PMID:11252005|PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:30345613
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0050460	Wolf-Hirschhorn syndrome		ISS	RGD:1614230	D	RGD:13592920	20230718	MouseDO		OMIM:194190	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0060058	lymphoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0080638	B-cell acute lymphoblastic leukemia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:0112177	Mayer-Rokitansky-Kuster-Hauser syndrome		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplasia of the uterus	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:10907	microcephaly		ISO	RGD:1317450	D	RGD:8554872	20210309	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:11514	fissured tongue		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plicated tongue	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:11782	astigmatism		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:11830	myopia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:11836	clubfoot		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfeet	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:13580	cholestasis		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:1588	thrombocytopenia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:2355	anemia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:2841	asthma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:3275	thymoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1317450	D	RGD:155663369|PMID:34551195	20221114	RGD		mRNA:increased expression:lung (human)	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:4188	echolalia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:423	myopathy		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:4667	kyphosis		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317450	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:557	kidney disease		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:630	genetic disease		ISO	RGD:1317450	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25188243|PMID:25741868|PMID:28492532
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:8927	learning disability		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9001031	Retrognathia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: retrognathism	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9001581	Constipation		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9001716	Hip Contracture		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip contracture	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9002720	Splenomegaly		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intracranial Hemorrhages	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9003760	Myalgia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9004360	RAUCH-STEINDL SYNDROME		ISO	RGD:1317450	D	RGD:7240710	20220330	OMIM			
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9004360	RAUCH-STEINDL SYNDROME		ISO	RGD:1317450	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NSD2-related condition | ClinVar Annotator: match by term: RAUCH-STEINDL SYNDROME | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn like syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn-like syndrome	PMID:11252005|PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:28492532|PMID:29758562|PMID:29760529|PMID:29892088|PMID:30171259|PMID:30244530|PMID:30345613|PMID:31171569|PMID:31382906|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317450	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33941880
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9005078	Congenital Macroglossia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Giant tongue	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive muscle weakness	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9006743	Spasm		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1317450	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24076604
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9007722	Myoclonus		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9007817	Macroglossia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9007892	Tics		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317450	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24874954
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1317450	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: therapeutic	PMID:24076604
1307955	Nsd2	nuclear receptor binding SET domain protein 2	gene	DOID:9993	hypoglycemia		ISO	RGD:1317450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:23823660|PMID:24076604|PMID:24710217|PMID:25741868|PMID:27872090|PMID:27993330|PMID:30171259|PMID:33941880|PMID:36189577
1307957	Kif26a	kinesin family member 26A	gene	DOID:0061142	complex cortical dysplasia with other brain malformations 11		ISO	RGD:1317452	D	RGD:7240710	20221214	OMIM			
1307957	Kif26a	kinesin family member 26A	gene	DOID:0061142	complex cortical dysplasia with other brain malformations 11		ISO	RGD:1317452	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 | ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 11	PMID:25741868|PMID:36228617|PMID:37486637
1307957	Kif26a	kinesin family member 26A	gene	DOID:1115	sarcoma		ISO	RGD:1317452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307957	Kif26a	kinesin family member 26A	gene	DOID:1909	melanoma		ISO	RGD:1317452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307957	Kif26a	kinesin family member 26A	gene	DOID:4362	cervical cancer		ISO	RGD:1317452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307957	Kif26a	kinesin family member 26A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307957	Kif26a	kinesin family member 26A	gene	DOID:5041	esophageal cancer		ISO	RGD:1317452	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307957	Kif26a	kinesin family member 26A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307957	Kif26a	kinesin family member 26A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307957	Kif26a	kinesin family member 26A	gene	DOID:9256	colorectal cancer		ISO	RGD:1317452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307958	Actr5	actin related protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307958	Actr5	actin related protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307958	Actr5	actin related protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307958	Actr5	actin related protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307958	Actr5	actin related protein 5	gene	DOID:1909	melanoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307958	Actr5	actin related protein 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307958	Actr5	actin related protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307958	Actr5	actin related protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307958	Actr5	actin related protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307959	Hpse2	heparanase 2 (inactive)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307959	Hpse2	heparanase 2 (inactive)	gene	DOID:0050816	urofacial syndrome		ISO	RGD:1317455	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20560209
1307959	Hpse2	heparanase 2 (inactive)	gene	DOID:0050816	urofacial syndrome		ISO	RGD:1317455	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Ochoa syndrome	PMID:16199547|PMID:20560210|PMID:25145936|PMID:25510506|PMID:25741868|PMID:28492532
1307959	Hpse2	heparanase 2 (inactive)	gene	DOID:0050816	urofacial syndrome		ISS	RGD:1621195	D	RGD:13592920	20230718	MouseDO		OMIM:236730 | OMIM:615112	
1307959	Hpse2	heparanase 2 (inactive)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307959	Hpse2	heparanase 2 (inactive)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307959	Hpse2	heparanase 2 (inactive)	gene	DOID:1115	sarcoma		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307959	Hpse2	heparanase 2 (inactive)	gene	DOID:1324	lung cancer		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307959	Hpse2	heparanase 2 (inactive)	gene	DOID:5041	esophageal cancer		ISO	RGD:1317455	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307959	Hpse2	heparanase 2 (inactive)	gene	DOID:630	genetic disease		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1307959	Hpse2	heparanase 2 (inactive)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307959	Hpse2	heparanase 2 (inactive)	gene	DOID:9006560	Urofacial Syndrome 1		ISO	RGD:1317455	D	RGD:7240710	20180221	OMIM			
1307959	Hpse2	heparanase 2 (inactive)	gene	DOID:9006560	Urofacial Syndrome 1		ISO	RGD:1317455	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HPSE2-related condition | ClinVar Annotator: match by term: UROFACIAL SYNDROME 1 | ClinVar Annotator: match by term: Urofacial syndrome type 1	PMID:16199547|PMID:20560209|PMID:20560210|PMID:21332471|PMID:25510506|PMID:25741868|PMID:27151922|PMID:28492532|PMID:30143558
1307959	Hpse2	heparanase 2 (inactive)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307960	Ube2l6	ubiquitin-conjugating enzyme E2L 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307960	Ube2l6	ubiquitin-conjugating enzyme E2L 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307960	Ube2l6	ubiquitin-conjugating enzyme E2L 6	gene	DOID:9001488	Human Influenza		ISO	RGD:1317456	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1307960	Ube2l6	ubiquitin-conjugating enzyme E2L 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307960	Ube2l6	ubiquitin-conjugating enzyme E2L 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307962	Ppp1r16a	protein phosphatase 1, regulatory subunit 16A	gene	DOID:10534	stomach cancer		ISO	RGD:1317459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307962	Ppp1r16a	protein phosphatase 1, regulatory subunit 16A	gene	DOID:1115	sarcoma		ISO	RGD:1317459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307962	Ppp1r16a	protein phosphatase 1, regulatory subunit 16A	gene	DOID:2394	ovarian cancer		ISO	RGD:1317459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307962	Ppp1r16a	protein phosphatase 1, regulatory subunit 16A	gene	DOID:3275	thymoma		ISO	RGD:1317459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307962	Ppp1r16a	protein phosphatase 1, regulatory subunit 16A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307963	Slc31a2	solute carrier family 31 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:34400813
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:3275	thymoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604365	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:630	genetic disease		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27523597|PMID:28492532|PMID:31705601|PMID:31785789|PMID:33826954|PMID:34400813|PMID:34758253|PMID:34930847|PMID:39860040
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9000777	Mitochondrial Cardiomyopathy		ISO	RGD:1604365	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial	PMID:25741868
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum agenesis	PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:33028643|PMID:34400813
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9003269	Sudden Cardiac Failure, Infantile		ISO	RGD:1604365	D	RGD:7240710	20190315	OMIM			
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9003269	Sudden Cardiac Failure, Infantile		ISO	RGD:1604365	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PPA2-Related Disorders | ClinVar Annotator: match by term: SUDDEN CARDIAC FAILURE, INFANTILE | ClinVar Annotator: match by term: Sudden cardiac failure, infantile | ClinVar Annotator: match by term: mitochondrial cardiomyopathy and sudden cardiac failure	PMID:25741868|PMID:27523597|PMID:28492532|PMID:31705601|PMID:33826954|PMID:34400813|PMID:34758253|PMID:34930847|PMID:39860040
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9004710	Alcohol-Induced Sudden Cardiac Failure		ISO	RGD:1604365	D	RGD:7240710	20190315	OMIM			
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9004710	Alcohol-Induced Sudden Cardiac Failure		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PPA2-related condition | ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced	PMID:25741868|PMID:27523597|PMID:28492532|PMID:31705601|PMID:33826954|PMID:34400813|PMID:34758253|PMID:34930847|PMID:39860040
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:34400813
1307965	Ppa2	inorganic pyrophosphatase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307966	Fam171a2	family with sequence similarity 171, member A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2298821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307966	Fam171a2	family with sequence similarity 171, member A2	gene	DOID:1115	sarcoma		ISO	RGD:2298821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307966	Fam171a2	family with sequence similarity 171, member A2	gene	DOID:3275	thymoma		ISO	RGD:2298821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307966	Fam171a2	family with sequence similarity 171, member A2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:2298821	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5	PMID:38922859
1307966	Fam171a2	family with sequence similarity 171, member A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2298821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307967	Phyhipl	phytanoyl-CoA 2-hydroxylase interacting protein-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:0050073	invasive aspergillosis		ISO	RGD:1624045	D	RGD:10450528|PMID:24054721	20160115	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1317469	D	RGD:10450514|PMID:24616599	20160115	RGD		DNA:mutation:intron:c.597+1G>A (human)	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1317469	D	RGD:10450519|PMID:21425445	20160115	RGD		DNA:mutations: :	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1317469	D	RGD:10450525|PMID:19620402	20160115	RGD		mRNA:decreased expression:myeloid CD33+ cell:	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1317469	D	RGD:1598891|PMID:10581030	20061220	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:0080178	mucositis		IMP		D	RGD:10450554|PMID:9823937	20160118	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:0080600	COVID-19		ISO	RGD:1317469	D	RGD:38501088|PMID:32696007	20200817	RGD		protein:increased expression:plasma (human)	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:0080625	severe congenital neutropenia 1		ISO	RGD:1317469	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:0080625	severe congenital neutropenia 1		ISO	RGD:1317469	D	RGD:7240710	20140212	OMIM			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:0080625	severe congenital neutropenia 1		ISO	RGD:1317469	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ELANE-related condition | ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant	PMID:10581030|PMID:11001877|PMID:11278653|PMID:11675333|PMID:11722436|PMID:14962902|PMID:15657182|PMID:16079102|PMID:16670064|PMID:16986121|PMID:17391497|PMID:17576681|PMID:17761833|PMID:18043239|PMID:19036076|PMID:19775295|PMID:20049848|PMID:20301705|PMID:21072829|PMID:21425445|PMID:22510773|PMID:23463630|PMID:24033266|PMID:24184683|PMID:24523240|PMID:24616599|PMID:25427142|PMID:25703294|PMID:25741868|PMID:28073911|PMID:28492532|PMID:28881492|PMID:30040071|PMID:30171085|PMID:30386760|PMID:31248972|PMID:31321910|PMID:31658467|PMID:31839986|PMID:31992846|PMID:3229910|PMID:32581362|PMID:32883808|PMID:33318085|PMID:33942430|PMID:33968054|PMID:34000087|PMID:34340247|PMID:34573280|PMID:35047849|PMID:35482138|PMID:35525891|PMID:37216690|PMID:39052144|PMID:9536098
1307968	Elane	elastase, neutrophil expressed	gene	DOID:0112128	X-linked severe congenital neutropenia		ISO	RGD:1317469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked severe congenital neutropenia	PMID:17576681|PMID:24033266|PMID:28492532|PMID:9536098
1307968	Elane	elastase, neutrophil expressed	gene	DOID:0112130	autosomal dominant severe congenital neutropenia		ISO	RGD:1317469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant severe congenital neutropenia | ClinVar Annotator: match by term: Severe congenital neutropenia autosomal dominant	PMID:17053055|PMID:20301705|PMID:23463630|PMID:25741868|PMID:28492532|PMID:33513358|PMID:34340247
1307968	Elane	elastase, neutrophil expressed	gene	DOID:10247	pleurisy		IMP		D	RGD:10450565|PMID:20860667	20160118	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:1115	sarcoma		ISO	RGD:1317469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:1317469	D	RGD:10450544|PMID:20655560	20160118	RGD		protein:increased expression:plasma:	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:1317469	D	RGD:10450545|PMID:10912863	20160118	RGD		associated with Multiple Organ Failure, Craniocerebral Trauma;protein:increased expression:plasma:	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:1227	neutropenia		ISO	RGD:1317469	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17436313
1307968	Elane	elastase, neutrophil expressed	gene	DOID:1227	neutropenia		ISO	RGD:1317469	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neutropenia	PMID:10581030|PMID:11001877|PMID:11722436|PMID:17576681|PMID:20049848|PMID:21425445|PMID:23463630|PMID:25741868|PMID:28492532|PMID:30040071|PMID:32581362|PMID:34340247|PMID:9536098
1307968	Elane	elastase, neutrophil expressed	gene	DOID:14115	toxic shock syndrome	treatment	IMP		D	RGD:10450579|PMID:18323746	20160119	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:2224	essential thrombocythemia		ISO	RGD:1317469	D	RGD:10450556|PMID:18768782	20160118	RGD		protein:increased expression:plasma:	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:224	transient cerebral ischemia	treatment	IMP		D	RGD:10450558|PMID:19168036	20160118	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:2562	suppurative periapical periodontitis		IEP		D	RGD:10450566|PMID:19913217	20160118	RGD		protein:increased expression:neutrophil:	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:2921	glomerulonephritis		ISO	RGD:1624045	D	RGD:6907051|PMID:19752320	20160118	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1317469	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25703294|PMID:25741868|PMID:27854218|PMID:28492532
1307968	Elane	elastase, neutrophil expressed	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1317469	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25427142|PMID:25703294|PMID:25741868|PMID:27854218|PMID:28492532
1307968	Elane	elastase, neutrophil expressed	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1317469	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25427142|PMID:25703294|PMID:25741868|PMID:28492532|PMID:35047849
1307968	Elane	elastase, neutrophil expressed	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1317469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:25741868|PMID:28492532|PMID:35047849
1307968	Elane	elastase, neutrophil expressed	gene	DOID:3525	middle cerebral artery infarction	treatment	IMP		D	RGD:10450546|PMID:10700596	20160118	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:3770	pulmonary fibrosis		IMP		D	RGD:10450562|PMID:19995276	20160118	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:5339	cyclic hematopoiesis		ISO	RGD:1317469	D	RGD:10450519|PMID:21425445	20160115	RGD		DNA:mutations: :	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:5339	cyclic hematopoiesis		ISO	RGD:1317469	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:5339	cyclic hematopoiesis		ISO	RGD:1317469	D	RGD:7240710	20130221	OMIM			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:5339	cyclic hematopoiesis		ISO	RGD:1317469	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CYCLIC NEUTROPENIA | ClinVar Annotator: match by term: Cyclic hematopoiesis | ClinVar Annotator: match by term: Cyclical neutropenia	PMID:10581030|PMID:11001877|PMID:11675333|PMID:11722436|PMID:14962902|PMID:15657182|PMID:16079102|PMID:16199547|PMID:16986121|PMID:17053055|PMID:17436313|PMID:17576681|PMID:17761833|PMID:18611981|PMID:18703682|PMID:19036076|PMID:19415009|PMID:19775295|PMID:20049848|PMID:20301705|PMID:20803142|PMID:21425445|PMID:22148006|PMID:22510773|PMID:22624626|PMID:23206890|PMID:23382209|PMID:23463630|PMID:24033266|PMID:24184683|PMID:24616599|PMID:25162927|PMID:25427142|PMID:25703294|PMID:25705433|PMID:25741868|PMID:25912133|PMID:28073911|PMID:28492532|PMID:28881492|PMID:29517659|PMID:30040071|PMID:30171085|PMID:30273710|PMID:30386760|PMID:30630937|PMID:30635825|PMID:31009763|PMID:31176364|PMID:3124897|PMID:31248972|PMID:31321910|PMID:31574885|PMID:31965297|PMID:31992846|PMID:3229910|PMID:32581362|PMID:32883808|PMID:33179225|PMID:33225392|PMID:33411156|PMID:33471934|PMID:33513358|PMID:33968054|PMID:34000087|PMID:34340247|PMID:34573280|PMID:35047849|PMID:35482138|PMID:35525891|PMID:35753512|PMID:36734404|PMID:37216690|PMID:39052144|PMID:9536098
1307968	Elane	elastase, neutrophil expressed	gene	DOID:630	genetic disease		ISO	RGD:1317469	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307968	Elane	elastase, neutrophil expressed	gene	DOID:7427	anthrax disease		ISO	RGD:1624045	D	RGD:10450550|PMID:19049643	20160118	RGD		protein:increased expression:plasma:	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:824	periodontitis	susceptibility	ISO	RGD:1317469	D	RGD:10450515|PMID:21796505	20160115	RGD		associated with Severe Congenital Neutropenia;DNA:mutations: :	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:8997	polycythemia vera		IMP		D	RGD:10450557|PMID:12186827	20160118	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:8997	polycythemia vera		ISO	RGD:1317469	D	RGD:10450556|PMID:18768782	20160118	RGD		protein:increased expression:plasma:	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9000197	Edema	treatment	IMP		D	RGD:10450565|PMID:20860667	20160118	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:1624045	D	RGD:10450549|PMID:18276796	20160118	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9001553	Spinal Cord Compression	treatment	IMP		D	RGD:10450552|PMID:9675307	20160118	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9002159	Liver Reperfusion Injury		IMP		D	RGD:10450560|PMID:10588515	20160118	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9003202	Pulmonary Hemorrhage		IMP		D	RGD:10450559|PMID:7587785	20160118	RGD		associated with Pancreatitis, Experimental, sepsis;	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9004237	Hyperoxic Lung Injury	treatment	IMP		D	RGD:10450581|PMID:11104832	20160119	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9004347	Skeletal Muscle Reperfusion Injury		IMP		D	RGD:10450555|PMID:7858993	20160118	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9004484	Sepsis		ISO	RGD:1624045	D	RGD:10450543|PMID:9585238	20160118	RGD		associated with Klebsiella Infections;	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9004610	Acute Lung Injury		IEP		D	RGD:10450585|PMID:18283562	20160119	RGD		protein:increased expression:perfusate:	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9004610	Acute Lung Injury	treatment	IMP		D	RGD:10450548|PMID:15257085	20160118	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9004610	Acute Lung Injury	treatment	IMP		D	RGD:10450587|PMID:17203197	20160119	RGD		associated with Shock, Hemorrhagic;	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9005932	Urinary Bladder Reperfusion Injury	treatment	IMP		D	RGD:10450583|PMID:18165924	20160119	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	IMP		D	RGD:10450580|PMID:16980042	20160119	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9006263	Experimental Pancreatitis	treatment	IMP		D	RGD:10450567|PMID:18486906	20160118	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9006827	Lung Reperfusion Injury	treatment	IMP		D	RGD:10450582|PMID:17888675	20160119	RGD			
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307968	Elane	elastase, neutrophil expressed	gene	DOID:9675	pulmonary emphysema		IMP		D	RGD:10450557|PMID:12186827	20160118	RGD			
1307969	Pgm5	phosphoglucomutase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307969	Pgm5	phosphoglucomutase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307969	Pgm5	phosphoglucomutase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1346061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307969	Pgm5	phosphoglucomutase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307969	Pgm5	phosphoglucomutase 5	gene	DOID:1115	sarcoma		ISO	RGD:1346061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307969	Pgm5	phosphoglucomutase 5	gene	DOID:1324	lung cancer		ISO	RGD:1346061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307969	Pgm5	phosphoglucomutase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307969	Pgm5	phosphoglucomutase 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307969	Pgm5	phosphoglucomutase 5	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1346061	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1307969	Pgm5	phosphoglucomutase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307970	Sync	syncoilin, intermediate filament protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307970	Sync	syncoilin, intermediate filament protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307971	Selplg	selectin P ligand	gene	DOID:0060180	colitis		ISO	RGD:1317473	D	RGD:6218987|PMID:22009715	20120308	RGD			
1307971	Selplg	selectin P ligand	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1317472	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
1307971	Selplg	selectin P ligand	gene	DOID:0080600	COVID-19		ISO	RGD:1317472	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD4+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
1307971	Selplg	selectin P ligand	gene	DOID:3407	carotid artery disease		ISO	RGD:1317472	D	RGD:6218985|PMID:22307784	20120308	RGD		DNA:polymorphism: :p.M62I (human)	
1307971	Selplg	selectin P ligand	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	IMP		D	RGD:401717523|PMID:16365457	20230802	RGD			
1307971	Selplg	selectin P ligand	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307973	Rilpl1	Rab interacting lysosomal protein-like 1	gene	DOID:0081300	oculopharyngodistal myopathy 4		ISO	RGD:1602163	D	RGD:7240710	20220406	OMIM			
1307973	Rilpl1	Rab interacting lysosomal protein-like 1	gene	DOID:0081300	oculopharyngodistal myopathy 4		ISO	RGD:1602163	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Oculopharyngodistal myopathy 4	PMID:25741868
1307973	Rilpl1	Rab interacting lysosomal protein-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307973	Rilpl1	Rab interacting lysosomal protein-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307973	Rilpl1	Rab interacting lysosomal protein-like 1	gene	DOID:3275	thymoma		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307973	Rilpl1	Rab interacting lysosomal protein-like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307973	Rilpl1	Rab interacting lysosomal protein-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307973	Rilpl1	Rab interacting lysosomal protein-like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307973	Rilpl1	Rab interacting lysosomal protein-like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307973	Rilpl1	Rab interacting lysosomal protein-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:0050573	2-hydroxyglutaric aciduria		ISO	RGD:1606344	D	RGD:11554173	20190402	CTD		CTD Direct Evidence: marker/mechanism	
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:0050575	D-2-hydroxyglutaric aciduria		ISO	RGD:1606344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria	PMID:25741868
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:28492532
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:0060058	lymphoma		ISO	RGD:1606344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:0111351	D-2-hydroxyglutaric aciduria 1		ISO	RGD:1606344	D	RGD:7240710	20190918	OMIM			
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:0111351	D-2-hydroxyglutaric aciduria 1		ISO	RGD:1606344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: D-2-HYDROXYGLUTARIC ACIDURIA 1 | ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 | ClinVar Annotator: match by term: D2HGDH-related condition	PMID:16037974|PMID:16081310|PMID:16199547|PMID:16442322|PMID:17576681|PMID:18414213|PMID:20020533|PMID:21384162|PMID:22391998|PMID:25525159|PMID:25741868|PMID:26178471|PMID:28135719|PMID:28492532|PMID:30908763|PMID:33431826|PMID:33728243|PMID:38825343|PMID:9536098
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:1606344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:1826	epilepsy		ISO	RGD:1606344	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:28492532
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:3275	thymoma		ISO	RGD:1606344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:1606344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:1606344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Childhood obesity	PMID:25741868|PMID:28492532
1307976	D2hgdh	D-2-hydroxyglutarate dehydrogenase	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:1606344	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15609246
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:16964263|PMID:21696388|PMID:28492532|PMID:30746398
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:0060556	Kufor-Rakeb syndrome		ISO	RGD:1342911	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22022275|PMID:22768177|PMID:22847264
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:0060556	Kufor-Rakeb syndrome		ISO	RGD:1342911	D	RGD:7240710	20130221	OMIM			
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:0060556	Kufor-Rakeb syndrome		ISO	RGD:1342911	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: KUFOR-RAKEB SYNDROME | ClinVar Annotator: match by term: Kufor-Rakeb syndrome | ClinVar Annotator: match by term: PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE, JUVENILE-ONSET	PMID:16199547|PMID:16964263|PMID:17485642|PMID:17576681|PMID:18414213|PMID:19015489|PMID:19085912|PMID:20227461|PMID:20976737|PMID:21696388|PMID:21714071|PMID:21724849|PMID:22743658|PMID:22768177|PMID:23499937|PMID:23522931|PMID:24088041|PMID:25374329|PMID:25466404|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27294386|PMID:28492532|PMID:30232368|PMID:30746398|PMID:30833663|PMID:31069529|PMID:31933133|PMID:31996848|PMID:33049588|PMID:33335927|PMID:34272103|PMID:35695987|PMID:35861376|PMID:36065636|PMID:36499080|PMID:37080960|PMID:37139776|PMID:38173558|PMID:38249738|PMID:9536098
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:0060556	Kufor-Rakeb syndrome		ISS	RGD:1551948	D	RGD:13592920	20230718	MouseDO		OMIM:606693	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1342911	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:23046578
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1342911	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation	PMID:30487145
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:16964263|PMID:21696388|PMID:25741868|PMID:28492532|PMID:30746398
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1342911	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:0112348	hereditary spastic paraplegia 78		ISO	RGD:1342911	D	RGD:7240710	20190315	OMIM			
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:0112348	hereditary spastic paraplegia 78		ISO	RGD:1342911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ATP13A2-related condition | ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 78 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 78, autosomal recessive	PMID:16199547|PMID:16964263|PMID:17576681|PMID:18414213|PMID:19085912|PMID:21696388|PMID:21714071|PMID:21724849|PMID:22743658|PMID:23499937|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28137957|PMID:28492532|PMID:28518168|PMID:29163333|PMID:29606608|PMID:29903538|PMID:29966207|PMID:30746398|PMID:30833663|PMID:31944623|PMID:32461654|PMID:35861376|PMID:36703223|PMID:36879366|PMID:38173558|PMID:38374194|PMID:9536098
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:10534	stomach cancer		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:1059	intellectual disability		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:16964263|PMID:21696388|PMID:25741868|PMID:28492532|PMID:30746398
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:11111	hydronephrosis		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:1205	allergic disease		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:12849	autistic disorder		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:1307	dementia		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:25741868|PMID:28492532|PMID:30833663
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:1324	lung cancer		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:13548	secondary Parkinson disease		ISO	RGD:1342911	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22285144
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:13934	facial paralysis		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial palsy	PMID:25741868|PMID:28492532|PMID:30833663
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1342911	D	RGD:10450518|PMID:26223426	20160115	RGD			
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1342911	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23628791|PMID:25149416
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1342911	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22022275|PMID:22847264
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:1596	depressive disorder		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:1909	melanoma		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532|PMID:38173558
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:3070	high grade glioma		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:3086	gingival overgrowth		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	PMID:25741868
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:3275	thymoma		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:4362	cervical cancer		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342911	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:529	blepharospasm		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharospasm	PMID:25741868
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:607	paraplegia		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868|PMID:28492532
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:630	genetic disease		ISO	RGD:1342911	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16964263|PMID:18414213|PMID:19085912|PMID:21542062|PMID:21696388|PMID:22296644|PMID:24399444|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30746398|PMID:30833663|PMID:31771779|PMID:35861376|PMID:38173558
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:681	progressive bulbar palsy		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bulbar palsy	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9000304	Manganese Poisoning		ISO	RGD:1342911	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22285144
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9000495	Tremor		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:28492532|PMID:30833663
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9000831	Hypokinesia		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:16964263|PMID:21696388|PMID:25741868|PMID:28492532|PMID:30746398|PMID:30833663
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9001510	Funnel Chest		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9001722	Dysarthria		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:16964263|PMID:21696388|PMID:25741868|PMID:28492532|PMID:30746398|PMID:30833663
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9001981	Weight Loss		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:25741868|PMID:28492532|PMID:30833663
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1342911	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22847264
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9005616	Micrognathism		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9006617	Fatigue		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9007402	Gliosis		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9007573	Flatfoot		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9007661	Dwarfism		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9007923	Back Pain		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Back pain	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307977	Atp13a2	ATPase cation transporting 13A2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1307978	Tm6sf1	transmembrane 6 superfamily member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307978	Tm6sf1	transmembrane 6 superfamily member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317482	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307979	Txlnb	taxilin beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317484	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307979	Txlnb	taxilin beta	gene	DOID:1909	melanoma		ISO	RGD:1317484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307979	Txlnb	taxilin beta	gene	DOID:2394	ovarian cancer		ISO	RGD:1317484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307979	Txlnb	taxilin beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307980	Urb2	URB2 ribosome biogenesis homolog	gene	DOID:10283	prostate cancer		ISO	RGD:1346688	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307980	Urb2	URB2 ribosome biogenesis homolog	gene	DOID:10283	prostate cancer		ISO	RGD:1346688	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307980	Urb2	URB2 ribosome biogenesis homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1346688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307980	Urb2	URB2 ribosome biogenesis homolog	gene	DOID:1826	epilepsy		ISO	RGD:1346688	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868
1307980	Urb2	URB2 ribosome biogenesis homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307980	Urb2	URB2 ribosome biogenesis homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307980	Urb2	URB2 ribosome biogenesis homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1346688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307980	Urb2	URB2 ribosome biogenesis homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307980	Urb2	URB2 ribosome biogenesis homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1346688	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307980	Urb2	URB2 ribosome biogenesis homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307980	Urb2	URB2 ribosome biogenesis homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307980	Urb2	URB2 ribosome biogenesis homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307980	Urb2	URB2 ribosome biogenesis homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307981	Luc7l3	LUC7 pre-mRNA splicing factor like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307981	Luc7l3	LUC7 pre-mRNA splicing factor like 3	gene	DOID:0060058	lymphoma		ISO	RGD:1604358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307981	Luc7l3	LUC7 pre-mRNA splicing factor like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307981	Luc7l3	LUC7 pre-mRNA splicing factor like 3	gene	DOID:1115	sarcoma		ISO	RGD:1604358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307981	Luc7l3	LUC7 pre-mRNA splicing factor like 3	gene	DOID:1324	lung cancer		ISO	RGD:1604358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307981	Luc7l3	LUC7 pre-mRNA splicing factor like 3	gene	DOID:3275	thymoma		ISO	RGD:1604358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307981	Luc7l3	LUC7 pre-mRNA splicing factor like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307981	Luc7l3	LUC7 pre-mRNA splicing factor like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604358	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307981	Luc7l3	LUC7 pre-mRNA splicing factor like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307981	Luc7l3	LUC7 pre-mRNA splicing factor like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307981	Luc7l3	LUC7 pre-mRNA splicing factor like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307982	Ola1	Obg-like ATPase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307982	Ola1	Obg-like ATPase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1604016	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1307982	Ola1	Obg-like ATPase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1604016	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1307982	Ola1	Obg-like ATPase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307982	Ola1	Obg-like ATPase 1	gene	DOID:1115	sarcoma		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307982	Ola1	Obg-like ATPase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307982	Ola1	Obg-like ATPase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604016	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307982	Ola1	Obg-like ATPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307982	Ola1	Obg-like ATPase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307982	Ola1	Obg-like ATPase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307982	Ola1	Obg-like ATPase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307982	Ola1	Obg-like ATPase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307983	Inip	INTS3 and NABP interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307983	Inip	INTS3 and NABP interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307983	Inip	INTS3 and NABP interacting protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307983	Inip	INTS3 and NABP interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307985	Lap3	leucine aminopeptidase 3	gene	DOID:0080600	COVID-19		ISO	RGD:1317491	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307985	Lap3	leucine aminopeptidase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1317491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307985	Lap3	leucine aminopeptidase 3	gene	DOID:1324	lung cancer		ISO	RGD:1317491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307985	Lap3	leucine aminopeptidase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307985	Lap3	leucine aminopeptidase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307985	Lap3	leucine aminopeptidase 3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1317491	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1307985	Lap3	leucine aminopeptidase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050974	spinocerebellar ataxia 25		ISO	RGD:1317494	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050974	spinocerebellar ataxia 25		ISO	RGD:1317494	D	RGD:7240710	20220720	OMIM			
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050974	spinocerebellar ataxia 25		ISO	RGD:1317494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 25 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 25	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30544257|PMID:33199448|PMID:35411967|PMID:38374498
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0110521	autosomal recessive nonsyndromic deafness 70		ISO	RGD:1317494	D	RGD:7240710	20140911	OMIM			
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0110521	autosomal recessive nonsyndromic deafness 70		ISO	RGD:1317494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 70 | ClinVar Annotator: match by term: Deafness, autosomal recessive 70	PMID:23084291|PMID:24088041|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:31752325|PMID:33199448|PMID:34740920|PMID:35411967|PMID:36147510|PMID:38374498|PMID:39924761
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0111467	combined oxidative phosphorylation deficiency 13		ISO	RGD:1317494	D	RGD:7240710	20140903	OMIM			
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0111467	combined oxidative phosphorylation deficiency 13		ISO	RGD:1317494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13	PMID:17576681|PMID:25741868|PMID:26633542|PMID:27759031|PMID:28492532|PMID:33812062|PMID:9536098
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:11830	myopia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:1826	epilepsy		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1317494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:3650	lactic acidosis		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317494	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:5419	schizophrenia		ISO	RGD:1317494	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1317494	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28645153|PMID:30046113|PMID:30831263|PMID:31164858|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1317494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23084291|PMID:24088041|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28645153|PMID:30046113|PMID:31164858|PMID:31752325|PMID:33199448|PMID:34740920|PMID:35411967|PMID:36147510|PMID:39924761
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317494	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317494	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:11080643|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:28594066|PMID:30244537|PMID:32020600
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:11080643|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss		ISO	RGD:1317494	D	RGD:11554169|PMID:23084290	20161020	RGD		DNA:missense mutation:cds:c.1424A>G(p.E475G)(human)	
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:28492532|PMID:28594066|PMID:30244537
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9834	hyperopia		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
1307987	Pnpt1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9840	esotropia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:11080643|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153
1307988	Hacl2	2-hydroxyacyl-CoA lyase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307988	Hacl2	2-hydroxyacyl-CoA lyase 2	gene	DOID:1115	sarcoma		ISO	RGD:1317496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307988	Hacl2	2-hydroxyacyl-CoA lyase 2	gene	DOID:3275	thymoma		ISO	RGD:1317496	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307988	Hacl2	2-hydroxyacyl-CoA lyase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307988	Hacl2	2-hydroxyacyl-CoA lyase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307988	Hacl2	2-hydroxyacyl-CoA lyase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307988	Hacl2	2-hydroxyacyl-CoA lyase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307988	Hacl2	2-hydroxyacyl-CoA lyase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307988	Hacl2	2-hydroxyacyl-CoA lyase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1317496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:0080820	occupational asthma		ISO	RGD:1317498	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25918132
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:0081203	autosomal recessive intellectual developmental disorder 38		ISO	RGD:1317498	D	RGD:7240710	20140911	OMIM			
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:0081203	autosomal recessive intellectual developmental disorder 38		ISO	RGD:1317498	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental delay with autism spectrum disorder and gait instability | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 38 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 38 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 38	PMID:25741868|PMID:28492532|PMID:30902390|PMID:31623504|PMID:32169557|PMID:32571899
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:1115	sarcoma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:1143	exotropia		ISO	RGD:1317498	D	RGD:8554872	20241119	ClinVar		ClinVar Annotator: match by term: concomitant exotropia	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:11983	Prader-Willi syndrome		ISO	RGD:1317498	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:11983	Prader-Willi syndrome		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prader-Willi syndrome	PMID:25741868
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:12849	autistic disorder		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:18442486|PMID:25741868|PMID:28492532
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:1324	lung cancer		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:1826	epilepsy		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:1909	melanoma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:3275	thymoma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317498	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:539	ophthalmoplegia		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ophthalmoplegia	PMID:25741868
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1317498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:630	genetic disease		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:1317498	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438405
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9000752	Skin/Hair/Eye Pigmentation, Variation In, 1		ISO	RGD:1317498	D	RGD:7240710	20150722	OMIM			
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9000752	Skin/Hair/Eye Pigmentation, Variation In, 1		ISO	RGD:1317498	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HERC2-related condition | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	PMID:25741868|PMID:28492532
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317498	D	RGD:8554872	20170207	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9008173	Paraparesis		ISO	RGD:1317498	D	RGD:8554872	20170207	ClinVar		ClinVar Annotator: match by term: Paraparesis	PMID:25741868
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9008879	Self Mutilation		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Self-mutilation	PMID:25741868
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307989	Herc2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1317498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1307990	Cytip	cytohesin 1 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307990	Cytip	cytohesin 1 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307990	Cytip	cytohesin 1 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1317500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307990	Cytip	cytohesin 1 interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307990	Cytip	cytohesin 1 interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307990	Cytip	cytohesin 1 interacting protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307990	Cytip	cytohesin 1 interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307990	Cytip	cytohesin 1 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307990	Cytip	cytohesin 1 interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307990	Cytip	cytohesin 1 interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307991	Sh2d4a	SH2 domain containing 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307991	Sh2d4a	SH2 domain containing 4A	gene	DOID:0080600	COVID-19		ISO	RGD:1317502	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1307991	Sh2d4a	SH2 domain containing 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307991	Sh2d4a	SH2 domain containing 4A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307991	Sh2d4a	SH2 domain containing 4A	gene	DOID:1115	sarcoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307991	Sh2d4a	SH2 domain containing 4A	gene	DOID:1909	melanoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307991	Sh2d4a	SH2 domain containing 4A	gene	DOID:3275	thymoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307991	Sh2d4a	SH2 domain containing 4A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1307991	Sh2d4a	SH2 domain containing 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307991	Sh2d4a	SH2 domain containing 4A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307991	Sh2d4a	SH2 domain containing 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307991	Sh2d4a	SH2 domain containing 4A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1317504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983784
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:1317504	D	RGD:7829763|PMID:17608818	20140123	RGD		DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:0081267	graft-versus-host disease	susceptibility	ISO	RGD:1317504	D	RGD:11534005|PMID:23025987	20160914	RGD		DNA:snp:promoter:g.-1123G>C (rs2488457) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:1317504	D	RGD:11535006|PMID:22569400	20160916	RGD		protein:increased expression:B cell (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:1040	chronic lymphocytic leukemia	susceptibility	ISO	RGD:1317504	D	RGD:11533998|PMID:23287625	20160914	RGD		DNA:snp:cds:p.R620W (rs2476601) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:12306	vitiligo		ISO	RGD:1317504	D	RGD:6484552|PMID:16015369	20120622	RGD		DNA: snp : cds: rs2476601	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:12306	vitiligo		ISO	RGD:1317504	D	RGD:7829737|PMID:18426414	20140123	RGD		DNA:polymorphism: :1858C>T (p.R620W) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:12361	Graves' disease		ISO	RGD:1317504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21190368
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:12361	Graves' disease		ISO	RGD:1317504	D	RGD:6484538|PMID:15504986	20120621	RGD		DNA: SNP: cds: C1858T	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:12361	Graves' disease		ISO	RGD:1317504	D	RGD:7829738|PMID:18687223	20140123	RGD		DNA:SNP, haplotype:promoter:-1123G>C (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:12361	Graves' disease	no_association	ISO	RGD:1317504	D	RGD:7829763|PMID:17608818	20140123	RGD		DNA:SNPs: :rs1468682, rs4729535, rs17155601, rs17467232 (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1317504	D	RGD:11534998|PMID:16163373	20160916	RGD		DNA:snp:cds:c.1858C>T (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:12894	Sjogren's syndrome	no_association	ISO	RGD:1317504	D	RGD:11534999|PMID:15933742	20160916	RGD		DNA:snp:cds:c.1858C>T (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:13241	Behcet's disease		ISO	RGD:1317504	D	RGD:6484733|PMID:17660222	20120703	RGD			
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:1317504	D	RGD:7829745|PMID:22396730	20140123	RGD		DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:13375	temporal arteritis		ISO	RGD:1317504	D	RGD:7829739|PMID:23946333	20140123	RGD		DNA:polymorphism: :p.R620W (rs2476601) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:13375	temporal arteritis	no_association	ISO	RGD:1317504	D	RGD:7829744|PMID:16078327	20140123	RGD		DNA:polymorphism: :1858C>T (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:13774	Addison's disease		ISO	RGD:1317504	D	RGD:6484549|PMID:18301444	20120622	RGD		DNA: snp: cds: rs2476601	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:1459	hypothyroidism		ISO	RGD:1317504	D	RGD:6484670|PMID:22493691	20120629	RGD			
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:1555	urticaria		ISO	RGD:1317504	D	RGD:7829761|PMID:22722472	20140123	RGD		DNA:SNPs, haplotype: :rs1310182, rs2488457, rs3811021 (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:2377	multiple sclerosis	no_association	ISO	RGD:1317504	D	RGD:6484550|PMID:15934099	20180222	RGD		DNA:missense mutation: :R620W (rs2476601) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:289	endometriosis		ISO	RGD:1317504	D	RGD:6484710|PMID:20070289	20120702	RGD			
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1317504	D	RGD:6484723|PMID:19563523	20120702	RGD		DNA:SNPs:cds:788G>A, 1858C>T (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:3393	coronary artery disease		ISO	RGD:1317504	D	RGD:6484553|PMID:21846984	20120625	RGD		DNA: snp: cds: rs2476601	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:417	autoimmune disease		ISO	RGD:1317504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21341673
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:417	autoimmune disease		ISO	RGD:1552858	D	RGD:7829736|PMID:23619366	20140123	RGD		DNA:missense mutation:cds:p.R619W (mouse)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:418	systemic scleroderma		ISO	RGD:1317504	D	RGD:6484551|PMID:21131644	20120622	RGD		DNA: snp: cds: rs2476601	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:418	systemic scleroderma	no_association	ISO	RGD:1317504	D	RGD:7829741|PMID:16464986	20140123	RGD		DNA:missense mutation:cds:p.R620W (rs2476601) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:437	myasthenia gravis		ISO	RGD:1317504	D	RGD:6484722|PMID:19693092	20120702	RGD		DNA: snp: cds: 1858T	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1317504	D	RGD:6484550|PMID:15934099	20120622	RGD		DNA: snp : cds : rs2476601	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1317504	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:19898480|PMID:20453842|PMID:21190368|PMID:23143596|PMID:30224649
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1317504	D	RGD:6484535|PMID:15208781	20120621	RGD		DNA:snp:cds:p.R620W (rs2476601) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1317504	D	RGD:6484595|PMID:21279993	20120626	RGD		DNA:snp:cds:p.R263Q (rs33996649) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:7148	rheumatoid arthritis	no_association	ISO	RGD:1317504	D	RGD:7829746|PMID:21467606	20140123	RGD		DNA:SNP::1858C>T (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1317504	D	RGD:6484667|PMID:22374238	20120628	RGD			
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:8778	Crohn's disease		ISO	RGD:1317504	D	RGD:6484668|PMID:18587394	20120629	RGD		DNA:SNP:cds:rs2476601 (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:8893	psoriasis	no_association	ISO	RGD:1317504	D	RGD:7829762|PMID:18341666	20140123	RGD		DNA:missense mutation:cds:p.R620W (rs2476601) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:8893	psoriasis	no_association	ISO	RGD:1317504	D	RGD:7829765|PMID:20039785	20140123	RGD		DNA:missense mutation:cds:1858C>T (p.R620W) (rs2476601) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:8893	psoriasis	onset	ISO	RGD:1317504	D	RGD:7829762|PMID:18341666	20140123	RGD		DNA:SNPs:intron, 3' utr: (rs1217414, rs3789604) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1317504	D	RGD:7829764|PMID:18923449	20140123	RGD		DNA:SNP:3' utr: (rs3789604) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1317504	D	RGD:6484673|PMID:21597364	20120629	RGD		DNA: snp: cds: C1858T	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:8924	autoimmune thrombocytopenic purpura	no_association	ISO	RGD:1317504	D	RGD:11535019|PMID:27309885	20160919	RGD		DNA:snp:cds:c.1858C>T (rs2476601) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9002457	Experimental Arthritis		IEP		D	RGD:11532752|PMID:24998229	20160906	RGD		protein:increased expression:metatarsophalangeal joint, mononuclear cell (rat)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis	susceptibility	ISO	RGD:1317504	D	RGD:11533997|PMID:22880107	20160914	RGD		DNA:snp:cds:c.1858C>T (rs2476601) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9003997	Familial Idiopathic Inflammatory Myopathy	susceptibility	ISO	RGD:1317504	D	RGD:11535001|PMID:18821667	20160916	RGD		DNA:snp:cds:p.R620W (rs2476601) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:1317504	D	RGD:6484548|PMID:15719322	20120622	RGD		DNA: snp: cds: rs2476601	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1317504	D	RGD:6484592|PMID:21410964	20120626	RGD		DNA: snp: cds: rs2476601	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9008	psoriatic arthritis	no_association	ISO	RGD:1317504	D	RGD:6484550|PMID:15934099	20180222	RGD		DNA:missense mutation: :R620W (rs2476601) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1317504	D	RGD:11534992|PMID:23076337	20160916	RGD		DNA:snp:cds:c.1858C>T (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1317504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18204446|PMID:21190368
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1317504	D	RGD:5147973|PMID:17092257	20110830	RGD		DNA:missense mutation:cds:p.R620W (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1317504	D	RGD:11532755|PMID:18981062	20160906	RGD		DNA:missense mutation:cds:p.R263Q (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1317504	D	RGD:11533999|PMID:23950893	20160914	RGD		DNA:snp:introns:c.87+1492C>T, c.828+186G>A (rs1217414, rs3765598) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9351	diabetes mellitus		ISO	RGD:1317504	D	RGD:6484729|PMID:18764813	20120703	RGD		DNA: snp: cds: C1858T	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1317504	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:21190368|PMID:30224649
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1317504	D	RGD:6484524|PMID:15004560	20120622	RGD		DNA:snp: cds: 1858C>T	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:1317504	D	RGD:6484692|PMID:21873553	20120629	RGD			
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	IAGP		D	RGD:9835029|PMID:25505293	20160906	RGD		DNA:missense mutation:cds:p.A629T (rat)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1317504	D	RGD:11533996|PMID:20176734	20160914	RGD		DNA:snp:cds:p.R620W (rs2476601) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1552858	D	RGD:11532754|PMID:25513733	20160906	RGD			
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:9849	Meniere's disease		ISO	RGD:1317504	D	RGD:7829747|PMID:19780033	20140123	RGD		DNA:missense mutation:cds:p.R620W (c.1858C>T) (rs2476601) (human)	
1307992	Ptpn22	protein tyrosine phosphatase, non-receptor type 22	gene	DOID:986	alopecia areata	severity	ISO	RGD:1317504	D	RGD:6484734|PMID:16829308	20120703	RGD		DNA:snp:cds:c.1858C>T (human)	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1317506	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22875613
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1615754	D	RGD:41404633|PMID:9310467	20210128	RGD		BCR/ABL fusion	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:1317506	D	RGD:11554173	20260407	CTD		CTD Direct Evidence: marker/mechanism	PMID:15604220|PMID:18673174|PMID:21908430|PMID:33070465
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:10534	stomach cancer		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:1115	sarcoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:1240	leukemia		ISO	RGD:1317506	D	RGD:11038780|PMID:11313935	20160225	RGD			
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:1324	lung cancer		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:3275	thymoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:4362	cervical cancer		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1317506	D	RGD:11038775|PMID:1362728	20160225	RGD		DNA:translocations:cds:	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1317506	D	RGD:13674161|PMID:25133686	20180710	RGD		DNA:gene fusion	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1317506	D	RGD:14392796|PMID:12067277	20160226	RGD		DNA:gene fusion	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1317506	D	RGD:7240710	20130221	OMIM			
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:8552	chronic myeloid leukemia	disease_progression	ISO	RGD:1317506	D	RGD:11038776|PMID:2683759	20160225	RGD		DNA:translocations:cds:	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:8552	chronic myeloid leukemia	disease_progression	ISO	RGD:1317506	D	RGD:11038783|PMID:7683349	20160225	RGD		DNA:methylation: :	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:8552	chronic myeloid leukemia	susceptibility	ISO	RGD:1317506	D	RGD:1600510|PMID:3101769	20070312	RGD		DNA:gene fusion	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:8552	chronic myeloid leukemia	treatment	ISO	RGD:1317506	D	RGD:41404631|PMID:12613514	20210128	RGD		BCR/ABL fusion	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:8692	myeloid leukemia		ISO	RGD:12120212	D	RGD:9068941	20230406	OMIA		Leukaemia, chronic monocytic	PMID:21143615|PMID:37009802
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317506	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1317506	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19878872
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:9002473	Blast Crisis		ISO	RGD:1317506	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21570118
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:9002867	Myeloid Leukemia, Chronic-Phase	disease_progression	ISO	RGD:1317506	D	RGD:11038809|PMID:19344397	20160226	RGD			
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:9005749	Necrosis		ISO	RGD:1317506	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23211037
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1317506	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1317506	D	RGD:7240710	20230505	OMIM			
1307993	Bcr	BCR activator of RhoGEF and GTPase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute lymphoid leukemia	PMID:25741868
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1317507	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: left ventricular noncompaction	PMID:25741868
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317507	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:1115	sarcoma		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:11984	hypertrophic cardiomyopathy		IMP		D	RGD:126925946|PMID:32207065	20210816	RGD			
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1317507	D	RGD:126925946|PMID:32207065	20210816	RGD		DNA:polymorphism:CDS:multiple (human)	
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1317507	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:1909	melanoma		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:5041	esophageal cancer		ISO	RGD:1317507	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1317507	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction	PMID:25741868
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:9007661	Dwarfism		ISO	RGD:1317507	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1307994	Myh7b	myosin heavy chain 7B	gene	DOID:9256	colorectal cancer		ISO	RGD:1317507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:0060058	lymphoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:0080600	COVID-19		ISO	RGD:1344771	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:0081337	congenital myopathy		ISO	RGD:1344771	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1344771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:1059	intellectual disability		ISO	RGD:1344771	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:3275	thymoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344771	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344771	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:630	genetic disease		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:9008488	Autosomal Recessive Intellectual Developmental Disorder 81		ISO	RGD:1344771	D	RGD:7240710	20240207	OMIM			
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:9008488	Autosomal Recessive Intellectual Developmental Disorder 81		ISO	RGD:1344771	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASCC3-associated disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 81	PMID:25741868|PMID:35047834
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307995	Ascc3	activating signal cointegrator 1 complex subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307998	Phc3	polyhomeotic homolog 3	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1317513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1307998	Phc3	polyhomeotic homolog 3	gene	DOID:10534	stomach cancer		ISO	RGD:1317513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1307998	Phc3	polyhomeotic homolog 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1307998	Phc3	polyhomeotic homolog 3	gene	DOID:1324	lung cancer		ISO	RGD:1317513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1307998	Phc3	polyhomeotic homolog 3	gene	DOID:1909	melanoma		ISO	RGD:1317513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1307998	Phc3	polyhomeotic homolog 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1307998	Phc3	polyhomeotic homolog 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1317513	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307998	Phc3	polyhomeotic homolog 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1307998	Phc3	polyhomeotic homolog 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307998	Phc3	polyhomeotic homolog 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1307998	Phc3	polyhomeotic homolog 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1307998	Phc3	polyhomeotic homolog 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1307999	Plagl2	PLAG1 like zinc finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1307999	Plagl2	PLAG1 like zinc finger 2	gene	DOID:1115	sarcoma		ISO	RGD:1317514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1307999	Plagl2	PLAG1 like zinc finger 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317514	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1307999	Plagl2	PLAG1 like zinc finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1307999	Plagl2	PLAG1 like zinc finger 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:0081111	osteosclerotic metaphyseal dysplasia		ISO	RGD:1317516	D	RGD:7240710	20211222	OMIM			
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:0081111	osteosclerotic metaphyseal dysplasia		ISO	RGD:1317516	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LRRK1-related condition | ClinVar Annotator: match by term: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA | ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia	PMID:25741868|PMID:28492532
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:13533	osteopetrosis		ISS	RGD:1317517	D	RGD:13592920	20180809	MouseDO			
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317516	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:23526378|PMID:28492532|PMID:31571209|PMID:32119750
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317516	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:630	genetic disease		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308000	Lrrk1	leucine-rich repeat kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317516	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308001	Med16	mediator complex subunit 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308001	Med16	mediator complex subunit 16	gene	DOID:0070794	Guillouet-Gordon syndrome		ISO	RGD:1317518	D	RGD:7240710	20250730	OMIM			
1308001	Med16	mediator complex subunit 16	gene	DOID:0070794	Guillouet-Gordon syndrome		ISO	RGD:1317518	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GUILLOUET-GORDON SYNDROME | ClinVar Annotator: match by term: Guillouet-Gordon syndrome	PMID:25741868|PMID:40081376
1308001	Med16	mediator complex subunit 16	gene	DOID:1059	intellectual disability		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: intellectual disability syndrome	
1308001	Med16	mediator complex subunit 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308001	Med16	mediator complex subunit 16	gene	DOID:1115	sarcoma		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308001	Med16	mediator complex subunit 16	gene	DOID:1324	lung cancer		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308001	Med16	mediator complex subunit 16	gene	DOID:1909	melanoma		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308001	Med16	mediator complex subunit 16	gene	DOID:289	endometriosis		ISO	RGD:1317518	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
1308001	Med16	mediator complex subunit 16	gene	DOID:3275	thymoma		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308001	Med16	mediator complex subunit 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1317518	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308001	Med16	mediator complex subunit 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308001	Med16	mediator complex subunit 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308001	Med16	mediator complex subunit 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308001	Med16	mediator complex subunit 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:0111704	chromosome 2q37 deletion syndrome		ISO	RGD:1317522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19365831
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1317522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1317522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19365831
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1317522	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:1909	melanoma		ISO	RGD:1317522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:3275	thymoma		ISO	RGD:1317522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317522	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1317522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1317522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20062064
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308003	Farp2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308004	Shpk	sedoheptulokinase	gene	DOID:10534	stomach cancer		ISO	RGD:1317524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308004	Shpk	sedoheptulokinase	gene	DOID:1324	lung cancer		ISO	RGD:1317524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308004	Shpk	sedoheptulokinase	gene	DOID:3275	thymoma		ISO	RGD:1317524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308004	Shpk	sedoheptulokinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308004	Shpk	sedoheptulokinase	gene	DOID:9001808	SEDOHEPTULOKINASE DEFICIENCY		ISO	RGD:1317524	D	RGD:7240710	20190315	OMIM			
1308004	Shpk	sedoheptulokinase	gene	DOID:9001808	SEDOHEPTULOKINASE DEFICIENCY		ISO	RGD:1317524	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: SEDOHEPTULOKINASE DEFICIENCY | ClinVar Annotator: match by term: SHPK-related condition	PMID:25647543|PMID:25741868|PMID:28492532
1308004	Shpk	sedoheptulokinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308008	Mrpl50	mitochondrial ribosomal protein L50	gene	DOID:10534	stomach cancer		ISO	RGD:1317530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308008	Mrpl50	mitochondrial ribosomal protein L50	gene	DOID:1909	melanoma		ISO	RGD:1317530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308008	Mrpl50	mitochondrial ribosomal protein L50	gene	DOID:3070	high grade glioma		ISO	RGD:1317530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308008	Mrpl50	mitochondrial ribosomal protein L50	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602129	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868|PMID:32553196
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:0080950	alopecia-mental retardation syndrome 4		ISO	RGD:1602129	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4	PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:0081397	Vissers-Bodmer syndrome		ISO	RGD:1602129	D	RGD:7240710	20201223	OMIM			
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:0081397	Vissers-Bodmer syndrome		ISO	RGD:1602129	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CNOT1-related disorder | ClinVar Annotator: match by term: VISSERS-BODMER SYNDROME | ClinVar Annotator: match by term: Vissers-Bodmer syndrome	PMID:23186163|PMID:25741868|PMID:28492532|PMID:31006510|PMID:31006513|PMID:32553196|PMID:33138308|PMID:37818768|PMID:38434094
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:0081398	holoprosencephaly 12		ISO	RGD:1602129	D	RGD:7240710	20190731	OMIM			
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:0081398	holoprosencephaly 12		ISO	RGD:1602129	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis | ClinVar Annotator: match by term: holoprosencephaly 12 with or without pancreatic agenesis	PMID:25299611|PMID:25741868|PMID:28492532|PMID:31006513|PMID:32553196
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602129	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:22367759|PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:11830	myopia		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:12849	autistic disorder		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602129	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:540	strabismus		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:824	periodontitis		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:9000895	Preterm Intraventricular Hemorrhage		ISO	RGD:1602129	D	RGD:8554872	20210622	ClinVar		ClinVar Annotator: match by term: Preterm intraventricular hemorrhage	PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1602129	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:9008539	Perinatal Death		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal death	PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:25741868
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308009	Cnot1	CCR4-NOT transcription complex, subunit 1	gene	DOID:9834	hyperopia		ISO	RGD:1602129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1308010	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:0110942	autosomal recessive osteopetrosis 1		ISO	RGD:1354234	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1	PMID:35342016|PMID:36195244
1308010	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:0110945	autosomal recessive osteopetrosis 6		ISO	RGD:1354234	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308010	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:0110945	autosomal recessive osteopetrosis 6		ISO	RGD:1354234	D	RGD:7240710	20130221	OMIM			
1308010	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:0110945	autosomal recessive osteopetrosis 6		ISO	RGD:1354234	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6	PMID:25741868
1308010	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:0110945	autosomal recessive osteopetrosis 6		ISS	RGD:1317533	D	RGD:13592920	20230718	MouseDO		OMIM:611497	
1308010	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:10534	stomach cancer		ISO	RGD:1354234	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308010	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308010	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:1324	lung cancer		ISO	RGD:1354234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308010	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:1909	melanoma		ISO	RGD:1354234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308010	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308010	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308010	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:9009253	Autosomal Dominant Osteopetrosis 3		ISO	RGD:1354234	D	RGD:7240710	20190315	OMIM			
1308010	Plekhm1	pleckstrin homology and RUN domain containing M1	gene	DOID:9009253	Autosomal Dominant Osteopetrosis 3		ISO	RGD:1354234	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3	PMID:25741868
1308012	Dennd6b	DENN domain containing 6B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308012	Dennd6b	DENN domain containing 6B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308012	Dennd6b	DENN domain containing 6B	gene	DOID:10534	stomach cancer		ISO	RGD:1606364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308012	Dennd6b	DENN domain containing 6B	gene	DOID:3275	thymoma		ISO	RGD:1606364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308012	Dennd6b	DENN domain containing 6B	gene	DOID:4362	cervical cancer		ISO	RGD:1606364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308012	Dennd6b	DENN domain containing 6B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308012	Dennd6b	DENN domain containing 6B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308012	Dennd6b	DENN domain containing 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308012	Dennd6b	DENN domain containing 6B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308012	Dennd6b	DENN domain containing 6B	gene	DOID:9256	colorectal cancer		ISO	RGD:1606364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308013	Fam180a	family with sequence similarity 180, member A	gene	DOID:289	endometriosis		ISO	RGD:1604688	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1308013	Fam180a	family with sequence similarity 180, member A	gene	DOID:4362	cervical cancer		ISO	RGD:1604688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308013	Fam180a	family with sequence similarity 180, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308013	Fam180a	family with sequence similarity 180, member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604688	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308014	Ints7	integrator complex subunit 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308014	Ints7	integrator complex subunit 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308014	Ints7	integrator complex subunit 7	gene	DOID:0060058	lymphoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308014	Ints7	integrator complex subunit 7	gene	DOID:10534	stomach cancer		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308014	Ints7	integrator complex subunit 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308014	Ints7	integrator complex subunit 7	gene	DOID:1115	sarcoma		ISO	RGD:1604023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308014	Ints7	integrator complex subunit 7	gene	DOID:1324	lung cancer		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308014	Ints7	integrator complex subunit 7	gene	DOID:1909	melanoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308014	Ints7	integrator complex subunit 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308014	Ints7	integrator complex subunit 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308014	Ints7	integrator complex subunit 7	gene	DOID:3070	high grade glioma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308014	Ints7	integrator complex subunit 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308014	Ints7	integrator complex subunit 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308014	Ints7	integrator complex subunit 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308014	Ints7	integrator complex subunit 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308014	Ints7	integrator complex subunit 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308014	Ints7	integrator complex subunit 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308014	Ints7	integrator complex subunit 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308015	Dnajc17	DnaJ heat shock protein family (Hsp40) member C17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308015	Dnajc17	DnaJ heat shock protein family (Hsp40) member C17	gene	DOID:10534	stomach cancer		ISO	RGD:1602696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308015	Dnajc17	DnaJ heat shock protein family (Hsp40) member C17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308015	Dnajc17	DnaJ heat shock protein family (Hsp40) member C17	gene	DOID:1115	sarcoma		ISO	RGD:1602696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308015	Dnajc17	DnaJ heat shock protein family (Hsp40) member C17	gene	DOID:11830	myopia		ISO	RGD:1602696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1308015	Dnajc17	DnaJ heat shock protein family (Hsp40) member C17	gene	DOID:1324	lung cancer		ISO	RGD:1602696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308015	Dnajc17	DnaJ heat shock protein family (Hsp40) member C17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308016	Sim2	SIM bHLH transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308016	Sim2	SIM bHLH transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308016	Sim2	SIM bHLH transcription factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1317540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308016	Sim2	SIM bHLH transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317540	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308016	Sim2	SIM bHLH transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308016	Sim2	SIM bHLH transcription factor 2	gene	DOID:674	cleft palate		ISO	RGD:1317540	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12203729
1308016	Sim2	SIM bHLH transcription factor 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: developmental delay	
1308016	Sim2	SIM bHLH transcription factor 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1317540	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12203729
1308016	Sim2	SIM bHLH transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308017	Rbm7	RNA binding motif protein 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308017	Rbm7	RNA binding motif protein 7	gene	DOID:3275	thymoma		ISO	RGD:1317542	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308017	Rbm7	RNA binding motif protein 7	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1317542	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427
1308017	Rbm7	RNA binding motif protein 7	gene	DOID:4362	cervical cancer		ISO	RGD:1317542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308017	Rbm7	RNA binding motif protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308017	Rbm7	RNA binding motif protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308019	Tor4a	torsin family 4, member A	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1606545	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14	PMID:19264732|PMID:27891178|PMID:28492532
1308019	Tor4a	torsin family 4, member A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606545	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308019	Tor4a	torsin family 4, member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308020	Zswim4	zinc finger, SWIM-type containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308020	Zswim4	zinc finger, SWIM-type containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308020	Zswim4	zinc finger, SWIM-type containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345804	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308020	Zswim4	zinc finger, SWIM-type containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308020	Zswim4	zinc finger, SWIM-type containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308020	Zswim4	zinc finger, SWIM-type containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308020	Zswim4	zinc finger, SWIM-type containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308020	Zswim4	zinc finger, SWIM-type containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308020	Zswim4	zinc finger, SWIM-type containing 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308021	Cpne5	copine 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308021	Cpne5	copine 5	gene	DOID:1115	sarcoma		ISO	RGD:1317548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308021	Cpne5	copine 5	gene	DOID:1909	melanoma		ISO	RGD:1317548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308021	Cpne5	copine 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308021	Cpne5	copine 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1317548	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308021	Cpne5	copine 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308021	Cpne5	copine 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308021	Cpne5	copine 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308021	Cpne5	copine 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308021	Cpne5	copine 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308022	Ppp2r5a	protein phosphatase 2, regulatory subunit B', alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308022	Ppp2r5a	protein phosphatase 2, regulatory subunit B', alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308022	Ppp2r5a	protein phosphatase 2, regulatory subunit B', alpha	gene	DOID:1115	sarcoma		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308022	Ppp2r5a	protein phosphatase 2, regulatory subunit B', alpha	gene	DOID:1324	lung cancer		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308022	Ppp2r5a	protein phosphatase 2, regulatory subunit B', alpha	gene	DOID:1909	melanoma		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308022	Ppp2r5a	protein phosphatase 2, regulatory subunit B', alpha	gene	DOID:3275	thymoma		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308022	Ppp2r5a	protein phosphatase 2, regulatory subunit B', alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1317550	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308022	Ppp2r5a	protein phosphatase 2, regulatory subunit B', alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308022	Ppp2r5a	protein phosphatase 2, regulatory subunit B', alpha	gene	DOID:9002884	Emphysema		ISO	RGD:1317550	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22223484
1308022	Ppp2r5a	protein phosphatase 2, regulatory subunit B', alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308022	Ppp2r5a	protein phosphatase 2, regulatory subunit B', alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308023	Ralgapa2	Ral GTPase activating protein catalytic subunit alpha 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308023	Ralgapa2	Ral GTPase activating protein catalytic subunit alpha 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308023	Ralgapa2	Ral GTPase activating protein catalytic subunit alpha 2	gene	DOID:1115	sarcoma		ISO	RGD:1343955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308023	Ralgapa2	Ral GTPase activating protein catalytic subunit alpha 2	gene	DOID:1324	lung cancer		ISO	RGD:1343955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308023	Ralgapa2	Ral GTPase activating protein catalytic subunit alpha 2	gene	DOID:1909	melanoma		ISO	RGD:1343955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308023	Ralgapa2	Ral GTPase activating protein catalytic subunit alpha 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308023	Ralgapa2	Ral GTPase activating protein catalytic subunit alpha 2	gene	DOID:3070	high grade glioma		ISO	RGD:1343955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308023	Ralgapa2	Ral GTPase activating protein catalytic subunit alpha 2	gene	DOID:3275	thymoma		ISO	RGD:1343955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308023	Ralgapa2	Ral GTPase activating protein catalytic subunit alpha 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308023	Ralgapa2	Ral GTPase activating protein catalytic subunit alpha 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343955	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308023	Ralgapa2	Ral GTPase activating protein catalytic subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308023	Ralgapa2	Ral GTPase activating protein catalytic subunit alpha 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308023	Ralgapa2	Ral GTPase activating protein catalytic subunit alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308023	Ralgapa2	Ral GTPase activating protein catalytic subunit alpha 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308024	Tom1	target of myb1 membrane trafficking protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308024	Tom1	target of myb1 membrane trafficking protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308024	Tom1	target of myb1 membrane trafficking protein	gene	DOID:0061055	immunodeficiency 85		ISO	RGD:1317553	D	RGD:7240710	20210908	OMIM			
1308024	Tom1	target of myb1 membrane trafficking protein	gene	DOID:0061055	immunodeficiency 85		ISO	RGD:1317553	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 85 and autoimmunity	PMID:25741868
1308024	Tom1	target of myb1 membrane trafficking protein	gene	DOID:1115	sarcoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308024	Tom1	target of myb1 membrane trafficking protein	gene	DOID:1324	lung cancer		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308024	Tom1	target of myb1 membrane trafficking protein	gene	DOID:1909	melanoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308024	Tom1	target of myb1 membrane trafficking protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308024	Tom1	target of myb1 membrane trafficking protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308024	Tom1	target of myb1 membrane trafficking protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308024	Tom1	target of myb1 membrane trafficking protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308024	Tom1	target of myb1 membrane trafficking protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308024	Tom1	target of myb1 membrane trafficking protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308026	Swsap1	SWIM-type zinc finger 7 associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308026	Swsap1	SWIM-type zinc finger 7 associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308027	Cldn10	claudin 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308027	Cldn10	claudin 10	gene	DOID:0070746	HELIX syndrome		ISO	RGD:1317558	D	RGD:7240710	20190315	OMIM			
1308027	Cldn10	claudin 10	gene	DOID:0070746	HELIX syndrome		ISO	RGD:1317558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HELIX SYNDROME | ClinVar Annotator: match by term: HELIX syndrome	PMID:25741868
1308027	Cldn10	claudin 10	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1317558	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:28377727
1308027	Cldn10	claudin 10	gene	DOID:4362	cervical cancer		ISO	RGD:1317558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308027	Cldn10	claudin 10	gene	DOID:4500	hypokalemia		ISO	RGD:1317558	D	RGD:8554872	20191210	ClinVar		ClinVar Annotator: match by term: Hypokalemia	PMID:25741868
1308027	Cldn10	claudin 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308027	Cldn10	claudin 10	gene	DOID:630	genetic disease		ISO	RGD:1317558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308027	Cldn10	claudin 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308027	Cldn10	claudin 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308028	Pdgfrl	platelet-derived growth factor receptor-like	gene	DOID:1115	sarcoma		ISO	RGD:1317560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308028	Pdgfrl	platelet-derived growth factor receptor-like	gene	DOID:1324	lung cancer		ISO	RGD:1317560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308028	Pdgfrl	platelet-derived growth factor receptor-like	gene	DOID:1909	melanoma		ISO	RGD:1317560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308028	Pdgfrl	platelet-derived growth factor receptor-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1317560	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308028	Pdgfrl	platelet-derived growth factor receptor-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308028	Pdgfrl	platelet-derived growth factor receptor-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308028	Pdgfrl	platelet-derived growth factor receptor-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317560	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308028	Pdgfrl	platelet-derived growth factor receptor-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317560	D	RGD:7240710	20130221	OMIM			
1308028	Pdgfrl	platelet-derived growth factor receptor-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317560	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308028	Pdgfrl	platelet-derived growth factor receptor-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308028	Pdgfrl	platelet-derived growth factor receptor-like	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1317560	D	RGD:11554173	20200805	CTD		CTD Direct Evidence: marker/mechanism	
1308028	Pdgfrl	platelet-derived growth factor receptor-like	gene	DOID:9256	colorectal cancer		ISO	RGD:1317560	D	RGD:7240710	20200226	OMIM			
1308028	Pdgfrl	platelet-derived growth factor receptor-like	gene	DOID:9256	colorectal cancer		ISO	RGD:1317560	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:0080833	laryngomalacia		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:10534	stomach cancer		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:1059	intellectual disability		ISO	RGD:1317562	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Intellectual disability syndrome	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:10907	microcephaly		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:11914	gastroparesis		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroparesis	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:305	carcinoma		ISO	RGD:1317562	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:3070	high grade glioma		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:4362	cervical cancer		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:6432	pulmonary hypertension		IEP		D	RGD:597621636|PMID:38261723	20250205	RGD		protein:increased expression:pulmonary artery,right ventricle	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:10395360|PMID:23238062	20150903	RGD		mRNA, protein:increased expression:gastrocnemius	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9000058	Keloid		ISO	RGD:1317562	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1317562	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9001581	Constipation		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1317562	D	RGD:597621636|PMID:38261723	20250205	RGD		protein:increased expression:pulmonary arterial smooth muscle, pulmonary artery, right ventricle	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9003915	Faundes-Banka Syndrome		ISO	RGD:1317562	D	RGD:7240710	20210616	OMIM			
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9003915	Faundes-Banka Syndrome		ISO	RGD:1317562	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FAUNDES-BANKA SYNDROME | ClinVar Annotator: match by term: Faundes-Banka syndrome	PMID:25741868
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317562	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1317562	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9007573	Flatfoot		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9220	central sleep apnea		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central apnea	
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1317562	D	RGD:151356994|PMID:23322277	20220222	RGD			
1308029	Eif5a	eukaryotic translation initiation factor 5A	gene	DOID:9834	hyperopia		ISO	RGD:1317562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1308030	Glis1	GLIS family zinc finger 1	gene	DOID:1909	melanoma		ISO	RGD:1343612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308030	Glis1	GLIS family zinc finger 1	gene	DOID:3275	thymoma		ISO	RGD:1343612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308030	Glis1	GLIS family zinc finger 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308030	Glis1	GLIS family zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308030	Glis1	GLIS family zinc finger 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308030	Glis1	GLIS family zinc finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308031	Ccdc159	coiled-coil domain containing 159	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308031	Ccdc159	coiled-coil domain containing 159	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308031	Ccdc159	coiled-coil domain containing 159	gene	DOID:0112311	male infertility due to acephalic spermatozoa		ISS	RGD:1317565	D	RGD:13592920	20240808	MouseDO			
1308031	Ccdc159	coiled-coil domain containing 159	gene	DOID:11054	urinary bladder cancer		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308031	Ccdc159	coiled-coil domain containing 159	gene	DOID:1115	sarcoma		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308031	Ccdc159	coiled-coil domain containing 159	gene	DOID:1324	lung cancer		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308031	Ccdc159	coiled-coil domain containing 159	gene	DOID:1909	melanoma		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308031	Ccdc159	coiled-coil domain containing 159	gene	DOID:3070	high grade glioma		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308031	Ccdc159	coiled-coil domain containing 159	gene	DOID:4362	cervical cancer		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308031	Ccdc159	coiled-coil domain containing 159	gene	DOID:5041	esophageal cancer		ISO	RGD:3566767	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308031	Ccdc159	coiled-coil domain containing 159	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308031	Ccdc159	coiled-coil domain containing 159	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308031	Ccdc159	coiled-coil domain containing 159	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308031	Ccdc159	coiled-coil domain containing 159	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308032	Nova2	NOVA alternative splicing regulator 2	gene	DOID:1059	intellectual disability		ISO	RGD:1317566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25167861
1308032	Nova2	NOVA alternative splicing regulator 2	gene	DOID:3275	thymoma		ISO	RGD:1317566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308032	Nova2	NOVA alternative splicing regulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308032	Nova2	NOVA alternative splicing regulator 2	gene	DOID:630	genetic disease		ISO	RGD:1317566	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1308032	Nova2	NOVA alternative splicing regulator 2	gene	DOID:9001712	Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities		ISO	RGD:1317566	D	RGD:7240710	20200812	OMIM			
1308032	Nova2	NOVA alternative splicing regulator 2	gene	DOID:9001712	Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities		ISO	RGD:1317566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NOVA2-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	PMID:25741868
1308032	Nova2	NOVA alternative splicing regulator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308033	Nol6	nucleolar protein 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308033	Nol6	nucleolar protein 6	gene	DOID:0060058	lymphoma		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308033	Nol6	nucleolar protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308033	Nol6	nucleolar protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308033	Nol6	nucleolar protein 6	gene	DOID:1909	melanoma		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308033	Nol6	nucleolar protein 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308033	Nol6	nucleolar protein 6	gene	DOID:3070	high grade glioma		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308033	Nol6	nucleolar protein 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308033	Nol6	nucleolar protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervix cancer	
1308033	Nol6	nucleolar protein 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308033	Nol6	nucleolar protein 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1317567	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308033	Nol6	nucleolar protein 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308033	Nol6	nucleolar protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308033	Nol6	nucleolar protein 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308033	Nol6	nucleolar protein 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308033	Nol6	nucleolar protein 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308033	Nol6	nucleolar protein 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308033	Nol6	nucleolar protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308033	Nol6	nucleolar protein 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308033	Nol6	nucleolar protein 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308033	Nol6	nucleolar protein 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1317567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308035	Rnf8	ring finger protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308035	Rnf8	ring finger protein 8	gene	DOID:10534	stomach cancer		ISO	RGD:1317571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308035	Rnf8	ring finger protein 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308035	Rnf8	ring finger protein 8	gene	DOID:12849	autistic disorder		ISO	RGD:1317571	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18621663
1308035	Rnf8	ring finger protein 8	gene	DOID:1909	melanoma		ISO	RGD:1317571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308035	Rnf8	ring finger protein 8	gene	DOID:3070	high grade glioma		ISO	RGD:1317571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308035	Rnf8	ring finger protein 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308035	Rnf8	ring finger protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308035	Rnf8	ring finger protein 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308035	Rnf8	ring finger protein 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308035	Rnf8	ring finger protein 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308038	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308038	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:0060796	hypomyelinating leukodystrophy 12		ISO	RGD:1317575	D	RGD:7240710	20190315	OMIM			
1308038	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:0060796	hypomyelinating leukodystrophy 12		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 12	PMID:25741868|PMID:28492532
1308038	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:0060939	dystonia 32		ISO	RGD:1317575	D	RGD:7240710	20211222	OMIM			
1308038	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:0060939	dystonia 32		ISO	RGD:1317575	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Dystonia 32 | ClinVar Annotator: match by term: VPS11-related condition	PMID:25741868|PMID:28492532
1308038	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308038	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:1324	lung cancer		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308038	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:3275	thymoma		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308038	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308038	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308038	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:5041	esophageal cancer		ISO	RGD:1317575	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308038	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308038	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:630	genetic disease		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308038	Vps11	VPS11 core subunit of CORVET and HOPS complexes	gene	DOID:9004538	Hearing Loss		ISO	RGD:1317575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:26307567|PMID:27120463|PMID:28492532|PMID:32316234
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1317578	D	RGD:2325154|PMID:11585747	20100520	RGD			
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:3068	glioblastoma		ISO	RGD:1317577	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1317577	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1317577	D	RGD:9586752|PMID:24270264	20141006	RGD		protein:increased expression:lung	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1317577	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1317577	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1317577	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317577	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317578	D	RGD:2325153|PMID:12374701	20100520	RGD			
1308039	Tp53bp1	tumor protein p53 binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:1317580	D	RGD:11038717|PMID:16217763	20160222	RGD		DNA:missense mutation:cds:p.E228A (c.683A>C) (human)	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:0050746	mantle cell lymphoma	susceptibility	ISO	RGD:1317580	D	RGD:11038718|PMID:15531454	20160222	RGD		DNA:SNP:exon:626C>G, 1322A>G (human)	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:0060058	lymphoma		ISO	RGD:1317580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:0060500	drug allergy		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19652058
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:10534	stomach cancer		ISO	RGD:1317580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317580	D	RGD:11038717|PMID:16217763	20160222	RGD		DNA:missense mutation:cds:p.E228A (c.683A>C) (human)	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:1115	sarcoma		ISO	RGD:1317580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:1227	neutropenia		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19652058
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:19652058
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:1588	thrombocytopenia		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19652058
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:219	colon cancer	disease_progression	IEP		D	RGD:2325778|PMID:20428773	20160223	RGD		mRNA:increased expression:colon	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:2355	anemia		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19652058
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:299	adenocarcinoma		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472143
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:3007	breast ductal carcinoma		ISO	RGD:1317580	D	RGD:2290492|PMID:17011986	20080314	RGD		mRNA:decreased expression:breast	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:4362	cervical cancer		ISO	RGD:1317580	D	RGD:2290493|PMID:16271751	20080314	RGD			
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:4362	cervical cancer		ISO	RGD:1317580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:4448	macular degeneration		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21909106
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1317580	D	RGD:2290491|PMID:17184908	20080314	RGD			
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1317580	D	RGD:2290496|PMID:16865223	20080314	RGD		mRNA:increased expression:kidney	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:4914	esophagus adenocarcinoma	onset	ISO	RGD:1317580	D	RGD:9068941	20210521	RGD		DNA:SNP:3'utr: (rs11775256) (human)	PMID:21472143|REF_RGD_ID:126925218
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317580	D	RGD:11038717|PMID:16217763	20160222	RGD		DNA:missense mutation:cds:p.E228A (c.683A>C) (human)	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19652058
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:8398	osteoarthritis		IEP		D	RGD:2290500|PMID:14872496	20080314	RGD			
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472143
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:9001109	Anorexia		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19652058
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1317580	D	RGD:11038717|PMID:16217763	20160222	RGD		DNA:missense mutation:cds:p.E228A (c.683A>C) (human)	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	susceptibility	ISO	RGD:1317580	D	RGD:11038718|PMID:15531454	20160222	RGD		DNA:SNP: :1322A>G (human)	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1317580	D	RGD:2290497|PMID:10693703	20080314	RGD		mRNA:decreased expression:kidney	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17075118
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:9004751	Nausea		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19652058
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1317581	D	RGD:2290495|PMID:17671220	20080314	RGD			
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:9006617	Fatigue		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19652058
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:9006928	Viral Bronchiolitis	severity	ISO	RGD:1317580	D	RGD:9068941	20201218	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:26541527|REF_RGD_ID:40902860
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:9007730	Burns		IEP		D	RGD:2290498|PMID:18019056	20080314	RGD		mRNA, protein:increased expression:thymus	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:1317580	D	RGD:2290494|PMID:16033835	20080314	RGD		protein:increased expression:breast	
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:1317580	D	RGD:11038719|PMID:16531263	20160222	RGD			
1308041	Tnfrsf10b	TNF receptor superfamily member 10b	gene	DOID:987	alopecia		ISO	RGD:1317580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19652058
1308042	Haghl	hydroxyacylglutathione hydrolase-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308042	Haghl	hydroxyacylglutathione hydrolase-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308042	Haghl	hydroxyacylglutathione hydrolase-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308042	Haghl	hydroxyacylglutathione hydrolase-like	gene	DOID:1909	melanoma		ISO	RGD:1317582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308042	Haghl	hydroxyacylglutathione hydrolase-like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308042	Haghl	hydroxyacylglutathione hydrolase-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308042	Haghl	hydroxyacylglutathione hydrolase-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308042	Haghl	hydroxyacylglutathione hydrolase-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:0080661	nonsyndromic aplasia cutis congenita		ISO	RGD:1345685	D	RGD:7240710	20200422	OMIM			
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:0080661	nonsyndromic aplasia cutis congenita		ISO	RGD:1345685	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: BMS1-related condition	PMID:25741868|PMID:28492532
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:10534	stomach cancer		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:1115	sarcoma		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:1324	lung cancer		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:1909	melanoma		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1345685	D	RGD:11554173	20200428	CTD		CTD Direct Evidence: marker/mechanism	
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1345685	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Aplasia cutis congenita | ClinVar Annotator: match by term: aplasia cutis congenita	PMID:23785305|PMID:25741868
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1345685	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308043	Bms1	BMS1 ribosome biogenesis factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345685	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308044	Lhx4	LIM homeobox 4	gene	DOID:0061017	combined pituitary hormone deficiency 4		ISO	RGD:1317585	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308044	Lhx4	LIM homeobox 4	gene	DOID:0061017	combined pituitary hormone deficiency 4		ISO	RGD:1317585	D	RGD:7240710	20130221	OMIM			
1308044	Lhx4	LIM homeobox 4	gene	DOID:0061017	combined pituitary hormone deficiency 4		ISO	RGD:1317585	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: LHX4-related condition | ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED, 4 | ClinVar Annotator: match by term: Short stature-pituitary and cerebellar defects-small sella turcica syndrome	PMID:18445675|PMID:23029363|PMID:23990694|PMID:25741868|PMID:28492532|PMID:34008892
1308044	Lhx4	LIM homeobox 4	gene	DOID:0061019	combined or isolated pituitary hormone deficiency 1		ISO	RGD:1317585	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1	
1308044	Lhx4	LIM homeobox 4	gene	DOID:630	genetic disease		ISO	RGD:1317585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308045	Usp12	ubiquitin specific peptidase 12	gene	DOID:10534	stomach cancer		ISO	RGD:1317587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308045	Usp12	ubiquitin specific peptidase 12	gene	DOID:1324	lung cancer		ISO	RGD:1317587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308045	Usp12	ubiquitin specific peptidase 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308045	Usp12	ubiquitin specific peptidase 12	gene	DOID:4362	cervical cancer		ISO	RGD:1317587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308045	Usp12	ubiquitin specific peptidase 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1317587	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308045	Usp12	ubiquitin specific peptidase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308045	Usp12	ubiquitin specific peptidase 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308045	Usp12	ubiquitin specific peptidase 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:0060058	lymphoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25393719|PMID:25741868|PMID:27236598|PMID:28492532
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease, late-onset	PMID:25741868
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:0111251	Parkinson's disease 21		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease 21	PMID:25393719|PMID:25741868|PMID:27236598|PMID:28492532
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:10534	stomach cancer		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25393719|PMID:25741868|PMID:27236598|PMID:28492532
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:1115	sarcoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:1324	lung cancer		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:14330	Parkinson's disease		ISO	RGD:1317589	D	RGD:10450845|PMID:25701813	20160122	RGD			
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:1909	melanoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:2394	ovarian cancer		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:3275	thymoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:4362	cervical cancer		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25393719|PMID:25741868|PMID:27236598|PMID:28492532
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:4990	essential tremor		ISO	RGD:1317589	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Essential tremor	PMID:24218364
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:5041	esophageal cancer		ISO	RGD:1317589	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25393719|PMID:25741868|PMID:27236598|PMID:28492532
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:6039	uveal melanoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25393719|PMID:25741868|PMID:27236598|PMID:28492532
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:8725	vascular dementia		ISO	RGD:1317589	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	PMID:25741868
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25393719|PMID:25741868|PMID:27236598|PMID:28492532
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25393719|PMID:25741868|PMID:27236598|PMID:28492532
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25393719|PMID:25741868|PMID:27236598|PMID:28492532
1308046	Dnajc13	DnaJ heat shock protein family (Hsp40) member C13	gene	DOID:9256	colorectal cancer		ISO	RGD:1317589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
1308047	Gsx2	GS homeobox 2	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1602642	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
1308047	Gsx2	GS homeobox 2	gene	DOID:9007719	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2		ISO	RGD:1602642	D	RGD:7240710	20191127	OMIM			
1308047	Gsx2	GS homeobox 2	gene	DOID:9007719	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2		ISO	RGD:1602642	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2	
1308048	Pithd1	PITH domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308048	Pithd1	PITH domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308048	Pithd1	PITH domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308048	Pithd1	PITH domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1603974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308048	Pithd1	PITH domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308048	Pithd1	PITH domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308048	Pithd1	PITH domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1603974	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308048	Pithd1	PITH domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308049	Sac3d1	SAC3 domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1607039	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1308049	Sac3d1	SAC3 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1317594	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0050744	anaplastic large cell lymphoma		ISO	RGD:1317594	D	RGD:11526155|PMID:18987657	20160810	RGD		DNA:translocation	
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0050745	diffuse large B-cell lymphoma	disease_progression	ISO	RGD:1317594	D	RGD:11530023|PMID:15701085	20160819	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1317594	D	RGD:11526155|PMID:18987657	20160810	RGD		DNA:translocation	
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0050873	follicular lymphoma	severity	ISO	RGD:1317594	D	RGD:11530032|PMID:17296585	20160819	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0060058	lymphoma		ISO	RGD:1317594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:27993330|PMID:36495369|PMID:37935654
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:1317594	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0060901	lymphoplasmacytic lymphoma		ISO	RGD:1317594	D	RGD:11530052|PMID:23355206	20160823	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0061125	immunodeficiency 131		ISO	RGD:1317594	D	RGD:7240710	20250219	OMIM			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0061125	immunodeficiency 131		ISO	RGD:1317594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 131 | ClinVar Annotator: match by term: Immunodeficiency 131	PMID:25741868|PMID:28492532|PMID:36662884|PMID:36917008
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1317595	D	RGD:11530030|PMID:20585039	20160819	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0080600	COVID-19		ISO	RGD:1317594	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:antibody secreting B cells (human)	PMID:32377375|REF_RGD_ID:32716422
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1317595	D	RGD:11526159|PMID:25006123	20160810	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1317595	D	RGD:11530020|PMID:21818355	20160819	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1317595	D	RGD:11530030|PMID:20585039	20160819	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:1317594	D	RGD:11526158|PMID:21791429	20160810	RGD		DNA:missense mutation:exon:p.L116R (human)	
1308050	Irf4	interferon regulatory factor 4	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:1317594	D	RGD:11530029|PMID:20731705	20160819	RGD		DNA:SNP: :rs872071 (human)	
1308050	Irf4	interferon regulatory factor 4	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:1317594	D	RGD:11530031|PMID:20123861	20160819	RGD		DNA:SNPs:3' utr:multiple	
1308050	Irf4	interferon regulatory factor 4	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:1317595	D	RGD:11530026|PMID:23926303	20160819	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:1040	chronic lymphocytic leukemia	disease_progression	ISO	RGD:1317594	D	RGD:11530021|PMID:20090783	20160819	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:1040	chronic lymphocytic leukemia	disease_progression	ISO	RGD:1317595	D	RGD:11526156|PMID:23897826	20160810	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:1240	leukemia	disease_progression	ISO	RGD:1317594	D	RGD:11526157|PMID:23977280	20160810	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317594	D	RGD:11530060|PMID:23589561	20160823	RGD		protein:decreased expression:heart	
1308050	Irf4	interferon regulatory factor 4	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:1317594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330|PMID:36495369|PMID:37935654
1308050	Irf4	interferon regulatory factor 4	gene	DOID:3275	thymoma		ISO	RGD:1317594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1308050	Irf4	interferon regulatory factor 4	gene	DOID:3525	middle cerebral artery infarction		IEP		D	RGD:11530061|PMID:25652434	20160823	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1317594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308050	Irf4	interferon regulatory factor 4	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1317594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:26819451|PMID:27993330|PMID:37935654
1308050	Irf4	interferon regulatory factor 4	gene	DOID:8577	ulcerative colitis		ISO	RGD:1317594	D	RGD:11554173	20240903	CTD		CTD Direct Evidence: marker/mechanism	PMID:38164749
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9000752	Skin/Hair/Eye Pigmentation, Variation In, 1		ISO	RGD:1317594	D	RGD:8554872	20181206	ClinVar		ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 1	PMID:25741868
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1317594	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18758461
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	disease_progression	ISO	RGD:1317594	D	RGD:11526160|PMID:12393648	20160810	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	disease_progression	ISO	RGD:1317594	D	RGD:11530024|PMID:12079517	20160819	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1317595	D	RGD:11530060|PMID:23589561	20160823	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1317594	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35915169
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9006853	Skin/Hair/Eye Pigmentation, Variation In, 8		ISO	RGD:1317594	D	RGD:7240710	20221214	OMIM			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9006853	Skin/Hair/Eye Pigmentation, Variation In, 8		ISO	RGD:1317594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IRF4-related condition | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 8	PMID:25741868|PMID:28492532
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1317594	D	RGD:11554173	20240903	CTD		CTD Direct Evidence: marker/mechanism	PMID:38164749
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9538	multiple myeloma		ISO	RGD:1317594	D	RGD:11526161|PMID:10557056	20160810	RGD		DNA:translocation	
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9538	multiple myeloma		ISO	RGD:1317594	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18568025
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:1317594	D	RGD:11530019|PMID:17690696	20160819	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:1317594	D	RGD:11530055|PMID:21707574	20160823	RGD			
1308050	Irf4	interferon regulatory factor 4	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1317594	D	RGD:11526162|PMID:19897031	20160810	RGD		DNA:SNP:intron:rs12203592 (human)	
1308053	Poll	DNA polymerase lambda	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308053	Poll	DNA polymerase lambda	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308053	Poll	DNA polymerase lambda	gene	DOID:3070	high grade glioma		ISO	RGD:1317600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308053	Poll	DNA polymerase lambda	gene	DOID:4362	cervical cancer		ISO	RGD:1317600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308053	Poll	DNA polymerase lambda	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308053	Poll	DNA polymerase lambda	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308054	Prkd2	protein kinase D2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308054	Prkd2	protein kinase D2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1342931	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1308054	Prkd2	protein kinase D2	gene	DOID:1909	melanoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308054	Prkd2	protein kinase D2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308054	Prkd2	protein kinase D2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308054	Prkd2	protein kinase D2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308054	Prkd2	protein kinase D2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308054	Prkd2	protein kinase D2	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1342931	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18758461
1308054	Prkd2	protein kinase D2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308054	Prkd2	protein kinase D2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308054	Prkd2	protein kinase D2	gene	DOID:9256	colorectal cancer		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308055	Nfkbid	NFKB inhibitor delta	gene	DOID:0081154	common variable immunodeficiency 12		ISO	RGD:1603004	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Immunodeficiency, common variable, 12	
1308055	Nfkbid	NFKB inhibitor delta	gene	DOID:10534	stomach cancer		ISO	RGD:1603004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308055	Nfkbid	NFKB inhibitor delta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308055	Nfkbid	NFKB inhibitor delta	gene	DOID:1115	sarcoma		ISO	RGD:1603004	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308055	Nfkbid	NFKB inhibitor delta	gene	DOID:4362	cervical cancer		ISO	RGD:1603004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308055	Nfkbid	NFKB inhibitor delta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:1059	intellectual disability		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:1115	sarcoma		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:1324	lung cancer		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:1909	melanoma		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308056	Neurl4	neuralized E3 ubiquitin protein ligase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308057	Wnt3a	Wnt family member 3A	gene	DOID:0081292	traumatic brain injury	treatment	IEP		D	RGD:597538582|PMID:26296359	20250129	RGD			
1308057	Wnt3a	Wnt family member 3A	gene	DOID:1459	hypothyroidism		IEP		D	RGD:2303791|PMID:19233274	20100701	RGD		mRNA:decreased expression:hippocampus	
1308057	Wnt3a	Wnt family member 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1317606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308057	Wnt3a	Wnt family member 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308057	Wnt3a	Wnt family member 3A	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1317606	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:23875703
1308057	Wnt3a	Wnt family member 3A	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1317607	D	RGD:2298848|PMID:9419423	20080729	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	
1308057	Wnt3a	Wnt family member 3A	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1317607	D	RGD:2298863|PMID:8065359	20080729	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	
1308057	Wnt3a	Wnt family member 3A	gene	DOID:9970	obesity		ISO	RGD:1317606	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28242765
1308058	Vezf1	vascular endothelial zinc finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308058	Vezf1	vascular endothelial zinc finger 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308058	Vezf1	vascular endothelial zinc finger 1	gene	DOID:1115	sarcoma		ISO	RGD:1317608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308058	Vezf1	vascular endothelial zinc finger 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308058	Vezf1	vascular endothelial zinc finger 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308058	Vezf1	vascular endothelial zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317608	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308058	Vezf1	vascular endothelial zinc finger 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308058	Vezf1	vascular endothelial zinc finger 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308058	Vezf1	vascular endothelial zinc finger 1	gene	DOID:9006997	Dilated Cardiomyopathy 1OO		ISO	RGD:1317608	D	RGD:7240710	20230505	OMIM			
1308058	Vezf1	vascular endothelial zinc finger 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308059	Lurap1l	leucine rich adaptor protein 1-like	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1317610	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: left atrial isomerism	PMID:32641753
1308059	Lurap1l	leucine rich adaptor protein 1-like	gene	DOID:3275	thymoma		ISO	RGD:1317610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308059	Lurap1l	leucine rich adaptor protein 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308059	Lurap1l	leucine rich adaptor protein 1-like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317610	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308061	Thap7	THAP domain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308061	Thap7	THAP domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1317614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308061	Thap7	THAP domain containing 7	gene	DOID:3275	thymoma		ISO	RGD:1317614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308061	Thap7	THAP domain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308062	Sgca	sarcoglycan, alpha	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1317616	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:12746421|PMID:18285821|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31931849
1308062	Sgca	sarcoglycan, alpha	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1317616	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:12746421|PMID:18285821|PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:31931849|PMID:34426522
1308062	Sgca	sarcoglycan, alpha	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1317616	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
1308062	Sgca	sarcoglycan, alpha	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1317616	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:10942431|PMID:12075495|PMID:12566530|PMID:12746421|PMID:15298081|PMID:17994539|PMID:18285821|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19798725|PMID:21031578|PMID:22095924|PMID:24033266|PMID:24565866|PMID:24742800|PMID:25135358|PMID:25214167|PMID:25741868|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:27120200|PMID:28403181|PMID:28492532|PMID:29382405|PMID:30703231|PMID:30764848|PMID:30919934|PMID:31069529|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:35948506|PMID:7663524|PMID:7668821|PMID:8069911|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9393893|PMID:9585331
1308062	Sgca	sarcoglycan, alpha	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1317616	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:10942431|PMID:10993494|PMID:12075495|PMID:12566530|PMID:12746421|PMID:15298081|PMID:15833425|PMID:17994539|PMID:18285821|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19798725|PMID:21031578|PMID:22095924|PMID:24033266|PMID:24464767|PMID:24565866|PMID:24742800|PMID:25135358|PMID:25214167|PMID:25741868|PMID:25898921|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:27120200|PMID:28403181|PMID:28492532|PMID:29382405|PMID:30345904|PMID:30703231|PMID:30764848|PMID:30919934|PMID:31069529|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:35948506|PMID:7663524|PMID:7668821|PMID:8069911|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9393893|PMID:9455986|PMID:9585331
1308062	Sgca	sarcoglycan, alpha	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1317616	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:10385046|PMID:10942431|PMID:10993494|PMID:11693784|PMID:12075495|PMID:12566530|PMID:12746421|PMID:15298081|PMID:15736300|PMID:15833425|PMID:16616845|PMID:16633953|PMID:16787395|PMID:17576681|PMID:17994539|PMID:18252745|PMID:18285821|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19798725|PMID:21031578|PMID:21856579|PMID:22095924|PMID:24033266|PMID:24464767|PMID:24565866|PMID:24742800|PMID:25135358|PMID:25214167|PMID:25741868|PMID:25898921|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:27120200|PMID:28403181|PMID:28492532|PMID:29351619|PMID:29382405|PMID:30107846|PMID:30345904|PMID:30703231|PMID:30764848|PMID:30919934|PMID:31069529|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:32382396|PMID:33848270|PMID:34602496|PMID:35948506|PMID:7657792|PMID:7663524|PMID:7668821|PMID:8069911|PMID:8528203|PMID:8866424|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9393893|PMID:9455986|PMID:9536098|PMID:9585331
1308062	Sgca	sarcoglycan, alpha	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1317616	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, autosomal recessive	PMID:12075495|PMID:12566530|PMID:12746421|PMID:17576681|PMID:17994539|PMID:18285821|PMID:18421900|PMID:18996010|PMID:19798725|PMID:22095924|PMID:24033266|PMID:24565866|PMID:24742800|PMID:25135358|PMID:25214167|PMID:25741868|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:27120200|PMID:28403181|PMID:28492532|PMID:29351619|PMID:30703231|PMID:30764848|PMID:30919934|PMID:31836381|PMID:31847883|PMID:32153140|PMID:35116532|PMID:35416532|PMID:38374194|PMID:39678382|PMID:39755676|PMID:9032047|PMID:9192266|PMID:9536098|PMID:9585331
1308062	Sgca	sarcoglycan, alpha	gene	DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D		ISO	RGD:1317616	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308062	Sgca	sarcoglycan, alpha	gene	DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D		ISO	RGD:1317616	D	RGD:7240710	20131030	OMIM			
1308062	Sgca	sarcoglycan, alpha	gene	DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D		ISO	RGD:1317616	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Duchenne-like autosomal recessive muscular dystrophy, type 2 | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2D | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2D | ClinVar Annotator: match by term: Sarcoglycanopathy	PMID:10204782|PMID:10842281|PMID:10942431|PMID:10993494|PMID:11475588|PMID:11693784|PMID:12075495|PMID:12566530|PMID:12746421|PMID:15298081|PMID:15833425|PMID:16199547|PMID:16616845|PMID:16633953|PMID:16778590|PMID:17562833|PMID:17576681|PMID:17994539|PMID:18285821|PMID:18414213|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19798725|PMID:19835634|PMID:21031578|PMID:22095924|PMID:22303798|PMID:24033266|PMID:24464767|PMID:24565866|PMID:24742800|PMID:25046369|PMID:25135358|PMID:25214167|PMID:25741868|PMID:25802880|PMID:25898921|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:26944168|PMID:27120200|PMID:27363342|PMID:27848944|PMID:27906075|PMID:28403181|PMID:28492532|PMID:28889091|PMID:29351619|PMID:29382405|PMID:29970176|PMID:30107846|PMID:30218921|PMID:30345904|PMID:30564623|PMID:30703231|PMID:30764848|PMID:30919934|PMID:31066050|PMID:31069529|PMID:31268554|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:31931849|PMID:31953240|PMID:32140910|PMID:32153140|PMID:32382396|PMID:32528171|PMID:32875335|PMID:33386810|PMID:33848270|PMID:34281632|PMID:34426522|PMID:34505136|PMID:34602496|PMID:35116532|PMID:35239206|PMID:35416532|PMID:35948506|PMID:36213152|PMID:36374152|PMID:37273706|PMID:37524782|PMID:37526466|PMID:38374194|PMID:38876406|PMID:39678382|PMID:39755676|PMID:7663524|PMID:7668821|PMID:8069911|PMID:8866424|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9266733|PMID:9393893|PMID:9455986|PMID:9536098
1308062	Sgca	sarcoglycan, alpha	gene	DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D		ISS	RGD:1317617	D	RGD:13592920	20230718	MouseDO		OMIM:608099	
1308062	Sgca	sarcoglycan, alpha	gene	DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D	treatment	ISO	RGD:1317616	D	RGD:13605612|PMID:17653106	20180611	RGD			
1308062	Sgca	sarcoglycan, alpha	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1317616	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1308062	Sgca	sarcoglycan, alpha	gene	DOID:630	genetic disease		ISO	RGD:1317616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32153140
1308062	Sgca	sarcoglycan, alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308062	Sgca	sarcoglycan, alpha	gene	DOID:767	muscular atrophy		IEP		D	RGD:625642|PMID:12107060	20161006	RGD		protein:decreased expression:gastrocnemius	
1308062	Sgca	sarcoglycan, alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308062	Sgca	sarcoglycan, alpha	gene	DOID:9884	muscular dystrophy		ISO	RGD:1317616	D	RGD:1599344|PMID:9192266	20070130	RGD			
1308062	Sgca	sarcoglycan, alpha	gene	DOID:9884	muscular dystrophy		ISO	RGD:1317616	D	RGD:1599345|PMID:8069911	20070130	RGD			
1308062	Sgca	sarcoglycan, alpha	gene	DOID:9884	muscular dystrophy		ISO	RGD:1317616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:12566530|PMID:17994539|PMID:18285821|PMID:22095924|PMID:24565866|PMID:25741868|PMID:28492532|PMID:29351619|PMID:32153140|PMID:9032047
1308062	Sgca	sarcoglycan, alpha	gene	DOID:9884	muscular dystrophy		ISO	RGD:1317617	D	RGD:13605611|PMID:9744877	20180611	RGD			
1308063	Tmc3	transmembrane channel-like 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1352795	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: POLE-related polyposis and colorectal cancer syndrome	PMID:28492532
1308064	Mpv17l2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308064	Mpv17l2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308064	Mpv17l2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:1909	melanoma		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308064	Mpv17l2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308064	Mpv17l2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308064	Mpv17l2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308066	Shroom1	shroom family member 1	gene	DOID:0060058	lymphoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308066	Shroom1	shroom family member 1	gene	DOID:0080600	COVID-19		ISO	RGD:1605292	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308066	Shroom1	shroom family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308066	Shroom1	shroom family member 1	gene	DOID:1909	melanoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308066	Shroom1	shroom family member 1	gene	DOID:3275	thymoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308066	Shroom1	shroom family member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308066	Shroom1	shroom family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308066	Shroom1	shroom family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308066	Shroom1	shroom family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308066	Shroom1	shroom family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:0060669	cerebral cavernous malformation		ISO	RGD:1317623	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18154020
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:0060669	cerebral cavernous malformation		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral cavernous malformation	PMID:25741868
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:0060670	cerebral cavernous malformation 2		ISO	RGD:1317623	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:0060670	cerebral cavernous malformation 2		ISO	RGD:1317623	D	RGD:7240710	20130425	OMIM			
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:0060670	cerebral cavernous malformation 2		ISO	RGD:1317623	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CCM2-related condition | ClinVar Annotator: match by term: CEREBRAL CAVERNOUS MALFORMATIONS 2 | ClinVar Annotator: match by term: Cerebral cavernous malformation 2 | ClinVar Annotator: match by term: Cerebral cavernous malformations 2 | ClinVar Annotator: match by term: cerebral cavernous malformation 2	PMID:14624391|PMID:14740320|PMID:15122722|PMID:16199547|PMID:17160895|PMID:17277691|PMID:17576681|PMID:18060436|PMID:18300272|PMID:19088124|PMID:19475721|PMID:20419355|PMID:23595507|PMID:24466005|PMID:2468908|PMID:24689081|PMID:25525273|PMID:25741868|PMID:26467025|PMID:27792856|PMID:28492532|PMID:28655553|PMID:29758562|PMID:30161288|PMID:31824402|PMID:34357553|PMID:36629374|PMID:9536098
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:0060670	cerebral cavernous malformation 2		ISS	RGD:1317624	D	RGD:13592920	20230718	MouseDO		OMIM:603284	
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:1115	sarcoma		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:26467025|PMID:28492532
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:483	cavernous hemangioma		ISO	RGD:1317623	D	RGD:8554872	20170207	ClinVar		ClinVar Annotator: match by term: Cavernous hemangioma	PMID:25741868
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1317623	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:630	genetic disease		ISO	RGD:1317623	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:26467025|PMID:28492532
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:865	vasculitis		ISO	RGD:1317623	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868|PMID:28492532
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:8725	vascular dementia		ISO	RGD:1317623	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:28492532|PMID:33268848|PMID:35307828
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:9003443	Central Nervous System Vascular Malformations	susceptibility	ISO	RGD:1317623	D	RGD:1600689|PMID:17160895	20070322	RGD		DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284	
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308067	Ccm2	CCM2 scaffold protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
1308068	Zfp346	zinc finger protein 346	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308068	Zfp346	zinc finger protein 346	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308068	Zfp346	zinc finger protein 346	gene	DOID:1909	melanoma		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308068	Zfp346	zinc finger protein 346	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308068	Zfp346	zinc finger protein 346	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308068	Zfp346	zinc finger protein 346	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308069	Osbp	oxysterol binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308069	Osbp	oxysterol binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1317627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308069	Osbp	oxysterol binding protein	gene	DOID:11088	asphyxia neonatorum		IEP		D	RGD:156431056|PMID:23625371	20230302	RGD			
1308069	Osbp	oxysterol binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1317627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308069	Osbp	oxysterol binding protein	gene	DOID:12206	dengue hemorrhagic fever		ISO	RGD:1317627	D	RGD:41404654|PMID:28241052	20210129	RGD		mRNA:increased expression:peripheral blood mononuclear cell	
1308069	Osbp	oxysterol binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1317627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308069	Osbp	oxysterol binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308069	Osbp	oxysterol binding protein	gene	DOID:3275	thymoma		ISO	RGD:1317627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308069	Osbp	oxysterol binding protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308069	Osbp	oxysterol binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308069	Osbp	oxysterol binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308069	Osbp	oxysterol binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308069	Osbp	oxysterol binding protein	gene	DOID:9005643	Experimental Diabetes Mellitus		IDA		D	RGD:2291921|PMID:18230613	20210129	RGD		protein:increased tyrosine phosphorylation:aorta	
1308069	Osbp	oxysterol binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308069	Osbp	oxysterol binding protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1317627	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1308069	Osbp	oxysterol binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308069	Osbp	oxysterol binding protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1317627	D	RGD:41404653|PMID:21999571	20210129	RGD			
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:0060542	Hermansky-Pudlak syndrome 4		ISO	RGD:1317629	D	RGD:7240710	20140911	OMIM			
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:0060542	Hermansky-Pudlak syndrome 4		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HERMANSKY-PUDLAK SYNDROME 4 | ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4	PMID:11836498|PMID:12664304|PMID:15108212|PMID:16199547|PMID:18463683|PMID:20158590|PMID:21833017|PMID:24033266|PMID:25741868|PMID:27176668|PMID:28492532|PMID:28983057|PMID:29600982|PMID:30985222|PMID:30990103|PMID:31898847|PMID:34838614|PMID:37647632
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:0060542	Hermansky-Pudlak syndrome 4		ISS	RGD:1317630	D	RGD:13592920	20230718	MouseDO		OMIM:614073	
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:1317629	D	RGD:8554872	20240702	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2	
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:2223	platelet storage pool deficiency		ISS	RGD:1317630	D	RGD:13592920	20180518	MouseDO		OMIM:185050	
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1317629	D	RGD:11353873|PMID:23563589	20160726	RGD		DNA:nonsense mutation:exon: c.541C>T(p.Q181X) (rs119471022)	
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1317629	D	RGD:11354897|PMID:11836498	20160728	RGD		DNA:nonsense,frameshift,insertion mutations:cds:	
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1317629	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1317629	D	RGD:1599546|PMID:12664304	20070207	RGD			
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1317629	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome	PMID:12664304|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317629	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:1317629	D	RGD:11353873|PMID:23563589	20160726	RGD		DNA:SNPs, haplotype:multiple:	
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1317629	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11836498|PMID:12664304|PMID:15108212|PMID:25741868|PMID:28492532|PMID:28983057|PMID:30985222|PMID:30990103
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Granulomatous colitis	PMID:15108212|PMID:25741868
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:9001386	Albinism		ISO	RGD:1317629	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:12664304|PMID:16199547|PMID:25741868|PMID:28492532
1308070	Hps4	HPS4, biogenesis of lysosomal organelles complex 3 subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308071	Pals1	protein associated with LIN7 1, MAGUK p55 family member	gene	DOID:14791	Leber congenital amaurosis		ISS	RGD:1317632	D	RGD:13592920	20180518	MouseDO			
1308072	Dhx15	DEAH-box helicase 15	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1317633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular heterotopia	PMID:25741868
1308072	Dhx15	DEAH-box helicase 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308072	Dhx15	DEAH-box helicase 15	gene	DOID:1059	intellectual disability		ISO	RGD:1317633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
1308072	Dhx15	DEAH-box helicase 15	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1317633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1308072	Dhx15	DEAH-box helicase 15	gene	DOID:1826	epilepsy		ISO	RGD:1317633	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1308072	Dhx15	DEAH-box helicase 15	gene	DOID:2394	ovarian cancer		ISO	RGD:1317633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308072	Dhx15	DEAH-box helicase 15	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1317633	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1308072	Dhx15	DEAH-box helicase 15	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308072	Dhx15	DEAH-box helicase 15	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308072	Dhx15	DEAH-box helicase 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308072	Dhx15	DEAH-box helicase 15	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308072	Dhx15	DEAH-box helicase 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317633	D	RGD:11554173	20190409	CTD		CTD Direct Evidence: marker/mechanism	PMID:27798625|PMID:29163777
1308072	Dhx15	DEAH-box helicase 15	gene	DOID:9256	colorectal cancer		ISO	RGD:1317633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308073	Edf1	endothelial differentiation-related factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308073	Edf1	endothelial differentiation-related factor 1	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1317635	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1308073	Edf1	endothelial differentiation-related factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1317635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308073	Edf1	endothelial differentiation-related factor 1	gene	DOID:3275	thymoma		ISO	RGD:1317635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308073	Edf1	endothelial differentiation-related factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308073	Edf1	endothelial differentiation-related factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308073	Edf1	endothelial differentiation-related factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308073	Edf1	endothelial differentiation-related factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308074	Plxna4	plexin A4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308074	Plxna4	plexin A4	gene	DOID:10534	stomach cancer		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308074	Plxna4	plexin A4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308074	Plxna4	plexin A4	gene	DOID:1115	sarcoma		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308074	Plxna4	plexin A4	gene	DOID:1324	lung cancer		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308074	Plxna4	plexin A4	gene	DOID:1909	melanoma		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308074	Plxna4	plexin A4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308074	Plxna4	plexin A4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308074	Plxna4	plexin A4	gene	DOID:4362	cervical cancer		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308074	Plxna4	plexin A4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308074	Plxna4	plexin A4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308074	Plxna4	plexin A4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308074	Plxna4	plexin A4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308076	Bud13	BUD13 spliceosome associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308076	Bud13	BUD13 spliceosome associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308076	Bud13	BUD13 spliceosome associated protein	gene	DOID:1909	melanoma		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308076	Bud13	BUD13 spliceosome associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308076	Bud13	BUD13 spliceosome associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308076	Bud13	BUD13 spliceosome associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308076	Bud13	BUD13 spliceosome associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308076	Bud13	BUD13 spliceosome associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308076	Bud13	BUD13 spliceosome associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308076	Bud13	BUD13 spliceosome associated protein	gene	DOID:9009317	Achalasia-Progeroid Syndrome		ISO	RGD:1606207	D	RGD:7240710	20250319	OMIM			
1308076	Bud13	BUD13 spliceosome associated protein	gene	DOID:9009317	Achalasia-Progeroid Syndrome		ISO	RGD:1606207	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACHALASIA-PROGEROID SYNDROME	PMID:25741868|PMID:35670808
1308076	Bud13	BUD13 spliceosome associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:0080600	COVID-19		ISO	RGD:1317645	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317645	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:1324	lung cancer		ISO	RGD:1317645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:1909	melanoma		ISO	RGD:1317645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:3275	thymoma		ISO	RGD:1317645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308080	Mtch2	mitochondrial carrier 2	gene	DOID:9970	obesity		ISO	RGD:1317645	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19079261
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1317646	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:1143	exotropia		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:3275	thymoma		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317646	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:543	dystonia		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb dystonia	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9000831	Hypokinesia		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9001121	Platybasia		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Platybasia	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9001809	Urinary Retention		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary retention	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308081	Papss1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308082	Prelid1	PRELI domain containing 1	gene	DOID:0080600	COVID-19		ISO	RGD:1604018	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308082	Prelid1	PRELI domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308082	Prelid1	PRELI domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308082	Prelid1	PRELI domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1604018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308082	Prelid1	PRELI domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308082	Prelid1	PRELI domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308083	Arl11	ARF like GTPase 11	gene	DOID:1909	melanoma		ISO	RGD:1317649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308083	Arl11	ARF like GTPase 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308083	Arl11	ARF like GTPase 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308083	Arl11	ARF like GTPase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308083	Arl11	ARF like GTPase 11	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317649	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308083	Arl11	ARF like GTPase 11	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1317649	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17079447
1308084	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346003	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308084	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:10534	stomach cancer		ISO	RGD:1346003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308084	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:1115	sarcoma		ISO	RGD:1346003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308084	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:4362	cervical cancer		ISO	RGD:1346003	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308084	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:5041	esophageal cancer		ISO	RGD:1346003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308084	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308084	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308084	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308084	Abhd10	abhydrolase domain containing 10, depalmitoylase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:0050453	lissencephaly		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pachygyria	PMID:22209247|PMID:22333902|PMID:24390199|PMID:25741868|PMID:27794444|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:22209247|PMID:25741868|PMID:28492532|PMID:32515830
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:0060263	porencephaly		ISO	RGD:1317652	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:0060263	porencephaly		ISO	RGD:1317652	D	RGD:13450938|PMID:26708157	20171113	RGD		DNA:mutation:cds:c.2399G>A,p.G800E(human)	
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:0061201	Bethlem myopathy 2		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 2	PMID:22209247|PMID:22333902|PMID:24390199|PMID:25741868|PMID:27794444|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:0061233	autosomal recessive brain small vessel disease 2B		ISO	RGD:1317652	D	RGD:7240710	20260722	OMIM			
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:0061233	autosomal recessive brain small vessel disease 2B		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 2B, AUTOSOMAL RECESSIVE	PMID:28492532|PMID:36603335
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:0080918	polymicrogyria		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:22209247|PMID:22333902|PMID:24390199|PMID:25741868|PMID:27794444|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:0112314	autosomal dominant brain small vessel disease 2A		ISO	RGD:1317652	D	RGD:7240710	20260722	OMIM			
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:0112314	autosomal dominant brain small vessel disease 2A		ISO	RGD:1317652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 2 | ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 2A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Brain small vessel disease 2A, autosomal dominant | ClinVar Annotator: match by term: COL4A2-Related Disorder | ClinVar Annotator: match by term: COL4A2-related condition | ClinVar Annotator: match by term: COL4A2-related disorder | ClinVar Annotator: match by term: Porencephaly 2 | ClinVar Annotator: match by term: porencephaly 2	PMID:16199547|PMID:17576681|PMID:22209246|PMID:22209247|PMID:22333902|PMID:22914737|PMID:24001601|PMID:24390199|PMID:24646874|PMID:25653287|PMID:25719457|PMID:25741868|PMID:27794444|PMID:28492532|PMID:30315939|PMID:30859180|PMID:31069529|PMID:31719132|PMID:32040484|PMID:32515830|PMID:32732225|PMID:33912663|PMID:34120799|PMID:9536098
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:1059	intellectual disability		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:32040484|PMID:33912663
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:22209247|PMID:25741868|PMID:28492532|PMID:32515830
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:1115	sarcoma		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:1143	exotropia		ISO	RGD:1317652	D	RGD:8554872	20241119	ClinVar		ClinVar Annotator: match by term: concomitant exotropia	PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:11836	clubfoot		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:22209247|PMID:22333902|PMID:24390199|PMID:25741868|PMID:27794444|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1317652	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:1281619
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:12849	autistic disorder		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:13129	severe pre-eclampsia	severity	ISO	RGD:1317652	D	RGD:329845529|PMID:24331737	20230524	RGD		mRNA:increased expression:decidua basalis (human)	
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:13223	uterine fibroid		ISO	RGD:1317652	D	RGD:401851920|PMID:23818951	20231031	RGD		DNA:hypomethylation:uterus (human)	
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:1324	lung cancer		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:22209247|PMID:25741868|PMID:28492532|PMID:32515830
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:13620	patent foramen ovale		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:22209247|PMID:22333902|PMID:24390199|PMID:25741868|PMID:27794444|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:1826	epilepsy		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:33912663
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:1909	melanoma		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:1936	atherosclerosis	susceptibility	ISO	RGD:1317652	D	RGD:13450936|PMID:28642624	20171113	RGD		DNA:SNP: :rs72657934(human)	
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:1969	cerebral palsy		ISO	RGD:1317652	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:33912663
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:2661	myoepithelioma		ISO	RGD:1317652	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:3070	high grade glioma		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:3275	thymoma		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:22209247|PMID:25741868|PMID:28492532|PMID:32515830
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:22209247|PMID:25741868|PMID:28492532|PMID:32515830
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1317652	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:22209247|PMID:25741868|PMID:28492532|PMID:32515830
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1317652	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:22209247|PMID:25741868|PMID:28492532|PMID:32515830
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:22209247|PMID:25741868|PMID:28492532|PMID:32515830
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:630	genetic disease		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22209246|PMID:22209247|PMID:24001601|PMID:25741868|PMID:27794444|PMID:28492532|PMID:33912663|PMID:36973604|PMID:38539105|PMID:39743006|PMID:9724608
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:22209247|PMID:25741868|PMID:28492532|PMID:32515830
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:848	arthritis		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: arthritis	
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:865	vasculitis		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317652	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1317652	D	RGD:11554173	20230711	CTD		CTD Direct Evidence: marker/mechanism	
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1317652	D	RGD:7240710	20260722	OMIM			
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1317652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to	PMID:16199547|PMID:22333902|PMID:25741868|PMID:28492532|PMID:30315939
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9002676	Cerebral Hemorrhage	susceptibility	ISO	RGD:1317652	D	RGD:13450933|PMID:28954878	20171113	RGD		DNA:SNPs::	
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9002788	Lacunar Strokes	susceptibility	ISO	RGD:1317652	D	RGD:13450933|PMID:28954878	20171113	RGD		DNA:SNPs::	
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9003133	Hypertelorism		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532|PMID:32040484
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:22209247|PMID:25741868|PMID:28492532|PMID:32515830
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:1317652	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9005560	Congenital Hip Dislocation		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hip dislocation	PMID:22209247|PMID:22333902|PMID:24390199|PMID:25741868|PMID:27794444|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9006637	Schizencephaly		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:22209247|PMID:22333902|PMID:24390199|PMID:25741868|PMID:27794444|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:22209247|PMID:25741868|PMID:28492532|PMID:32515830
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9007661	Dwarfism		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22209247|PMID:22333902|PMID:24390199|PMID:25741868|PMID:27794444|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22209247|PMID:22333902|PMID:24390199|PMID:25741868|PMID:27794444|PMID:28492532
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:22209247|PMID:22333902|PMID:25741868|PMID:28492532|PMID:30315939|PMID:32515830
1308085	Col4a2	collagen type IV alpha 2 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1317652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1308086	Polr3e	RNA polymerase III subunit E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308086	Polr3e	RNA polymerase III subunit E	gene	DOID:10534	stomach cancer		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308086	Polr3e	RNA polymerase III subunit E	gene	DOID:1324	lung cancer		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308086	Polr3e	RNA polymerase III subunit E	gene	DOID:1909	melanoma		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308086	Polr3e	RNA polymerase III subunit E	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308086	Polr3e	RNA polymerase III subunit E	gene	DOID:3275	thymoma		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308086	Polr3e	RNA polymerase III subunit E	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308086	Polr3e	RNA polymerase III subunit E	gene	DOID:4362	cervical cancer		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308086	Polr3e	RNA polymerase III subunit E	gene	DOID:5041	esophageal cancer		ISO	RGD:1317654	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308086	Polr3e	RNA polymerase III subunit E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308086	Polr3e	RNA polymerase III subunit E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308086	Polr3e	RNA polymerase III subunit E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308086	Polr3e	RNA polymerase III subunit E	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
1308087	Ap5m1	adaptor related protein complex 5 subunit mu 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308087	Ap5m1	adaptor related protein complex 5 subunit mu 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308087	Ap5m1	adaptor related protein complex 5 subunit mu 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308087	Ap5m1	adaptor related protein complex 5 subunit mu 1	gene	DOID:1115	sarcoma		ISO	RGD:1317656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308087	Ap5m1	adaptor related protein complex 5 subunit mu 1	gene	DOID:1324	lung cancer		ISO	RGD:1317656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308087	Ap5m1	adaptor related protein complex 5 subunit mu 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308087	Ap5m1	adaptor related protein complex 5 subunit mu 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1317656	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
1308087	Ap5m1	adaptor related protein complex 5 subunit mu 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308088	H2bc8	H2B clustered histone 8	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1346575	D	RGD:11554173	20190806	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1308088	H2bc8	H2B clustered histone 8	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1346575	D	RGD:11554173	20190806	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208208
1308089	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308089	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:1324	lung cancer		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308089	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:1909	melanoma		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308089	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:4362	cervical cancer		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308089	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308089	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:5041	esophageal cancer		ISO	RGD:1346378	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308089	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308089	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308089	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308089	Plekhg3	pleckstrin homology and RhoGEF domain containing G3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308091	E2f8	E2F transcription factor 8	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605946	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29754146
1308091	E2f8	E2F transcription factor 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605946	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308091	E2f8	E2F transcription factor 8	gene	DOID:9000918	Disease Progression		ISO	RGD:1605946	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29754146
1308091	E2f8	E2F transcription factor 8	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1605946	D	RGD:11554173	20190115	CTD		CTD Direct Evidence: marker/mechanism	PMID:27683099
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0050581	brachydactyly		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:28492532|PMID:29669943|PMID:35052424|PMID:37091313
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0060249	scoliosis		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:25860818|PMID:28492532|PMID:37091313
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0080473	developmental delay and seizures with or without movement abnormalities		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay and seizures with or without movement abnormalities	PMID:25741868
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0110155	Charcot-Marie-Tooth disease type 2A2A		ISO	RGD:1317663	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A	PMID:23141294|PMID:25741868
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q		ISO	RGD:1317663	D	RGD:7240710	20150610	OMIM			
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q	PMID:23141293|PMID:23141294|PMID:25326637|PMID:25741868|PMID:25860818|PMID:26141459|PMID:28492532|PMID:28902413|PMID:29669943|PMID:35052424
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q		ISS	RGD:1317664	D	RGD:13592920	20230718	MouseDO		OMIM:615025	
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0111453	2-aminoadipic 2-oxoadipic aciduria		ISO	RGD:1317663	D	RGD:7240710	20140903	OMIM			
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0111453	2-aminoadipic 2-oxoadipic aciduria		ISO	RGD:1317663	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 2-aminoadipic 2-oxoadipic aciduria | ClinVar Annotator: match by term: ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA | ClinVar Annotator: match by term: DHTKD1-related condition	PMID:16199547|PMID:17576681|PMID:23141293|PMID:23141294|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25860818|PMID:26141459|PMID:28454995|PMID:28492532|PMID:28902413|PMID:29653220|PMID:29669943|PMID:29752936|PMID:29858556|PMID:30842647|PMID:30896807|PMID:32005694|PMID:32303640|PMID:32695416|PMID:32768327|PMID:32860008|PMID:33369814|PMID:34169998|PMID:34946966|PMID:35052424|PMID:37091313|PMID:9536098
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0111453	2-aminoadipic 2-oxoadipic aciduria		ISS	RGD:1317664	D	RGD:13592920	20230718	MouseDO		OMIM:204750	
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1317663	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:28492532|PMID:29127259
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:543	dystonia		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1317663	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:23141293|PMID:23141294|PMID:25741868|PMID:25860818|PMID:26141459|PMID:28492532|PMID:28902413|PMID:35052424|PMID:35897808|PMID:37091313|PMID:8069629|PMID:9536098
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:767	muscular atrophy		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:28492532|PMID:29669943|PMID:37091313
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:870	neuropathy		ISO	RGD:1317663	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:28492532|PMID:35052424|PMID:37091313
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317663	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9001581	Constipation		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9004551	Charcot-Marie-Tooth Disease Type 2A2		ISO	RGD:1317663	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HMSN IIA2	PMID:23141294|PMID:25741868
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:28492532|PMID:29669943|PMID:37091313
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868|PMID:25860818|PMID:28492532|PMID:37091313
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:28492532|PMID:29669943|PMID:37091313
1308092	Dhtkd1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:10283	prostate cancer		ISO	RGD:1603998	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:10534	stomach cancer		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:1324	lung cancer		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:1909	melanoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:2661	myoepithelioma		ISO	RGD:1603998	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:3275	thymoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:4362	cervical cancer		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:5041	esophageal cancer		ISO	RGD:1603998	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308093	Arhgef40	Rho guanine nucleotide exchange factor 40	gene	DOID:9256	colorectal cancer		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308094	Tbx15	T-box transcription factor 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308094	Tbx15	T-box transcription factor 15	gene	DOID:1115	sarcoma		ISO	RGD:1317666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308094	Tbx15	T-box transcription factor 15	gene	DOID:1673	pneumothorax		ISO	RGD:1317666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spontaneous pneumothorax	PMID:25741868|PMID:28492532
1308094	Tbx15	T-box transcription factor 15	gene	DOID:2736	Hajdu-Cheney syndrome		ISO	RGD:151775071	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: NOTCH2-related condition	PMID:28492532
1308094	Tbx15	T-box transcription factor 15	gene	DOID:3275	thymoma		ISO	RGD:1317666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308094	Tbx15	T-box transcription factor 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:28492532|PMID:9536098
1308094	Tbx15	T-box transcription factor 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1317666	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308094	Tbx15	T-box transcription factor 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308094	Tbx15	T-box transcription factor 15	gene	DOID:630	genetic disease		ISO	RGD:1317666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308094	Tbx15	T-box transcription factor 15	gene	DOID:9004239	Cousin Syndrome		ISO	RGD:1317666	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19068278
1308094	Tbx15	T-box transcription factor 15	gene	DOID:9004239	Cousin Syndrome		ISO	RGD:1317666	D	RGD:7240710	20170510	OMIM			
1308094	Tbx15	T-box transcription factor 15	gene	DOID:9004239	Cousin Syndrome		ISO	RGD:1317666	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COUSIN SYNDROME | ClinVar Annotator: match by term: Pelviscapular dysplasia | ClinVar Annotator: match by term: TBX15-related disorder	PMID:25741868|PMID:28492532
1308094	Tbx15	T-box transcription factor 15	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1317666	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
1308094	Tbx15	T-box transcription factor 15	gene	DOID:9006257	Growth Disorders		ISO	RGD:1317666	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19068278
1308094	Tbx15	T-box transcription factor 15	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1317666	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19068278
1308094	Tbx15	T-box transcription factor 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308095	Btf3	basic transcription factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308095	Btf3	basic transcription factor 3	gene	DOID:0060058	lymphoma		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308095	Btf3	basic transcription factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308095	Btf3	basic transcription factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308095	Btf3	basic transcription factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308095	Btf3	basic transcription factor 3	gene	DOID:1909	melanoma		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308095	Btf3	basic transcription factor 3	gene	DOID:3275	thymoma		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308095	Btf3	basic transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308095	Btf3	basic transcription factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308095	Btf3	basic transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308095	Btf3	basic transcription factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308096	Cuedc2	CUE domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308096	Cuedc2	CUE domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308096	Cuedc2	CUE domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1317669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308096	Cuedc2	CUE domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308096	Cuedc2	CUE domain containing 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1308096	Cuedc2	CUE domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308097	Actn2	actinin alpha 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1317671	D	RGD:13506947|PMID:11078270	20180226	RGD		DNA:polymorphism: :	
1308097	Actn2	actinin alpha 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:14567970|PMID:17576681|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27896284|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28986455|PMID:30165862|PMID:30847666|PMID:30959811|PMID:31506931|PMID:31983221|PMID:32492895|PMID:32746448|PMID:34935411|PMID:37461109|PMID:37477868|PMID:39554508|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308097	Actn2	actinin alpha 2	gene	DOID:0060036	intrinsic cardiomyopathy		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intrinsic cardiomyopathy | ClinVar Annotator: match by term: intrinsic cardiomyopathy	PMID:14567970|PMID:22767232|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26899768|PMID:27532257|PMID:27896284|PMID:28436997|PMID:28492532|PMID:28640247|PMID:31333075|PMID:32746448|PMID:32973354|PMID:33500567|PMID:34802252|PMID:34935411
1308097	Actn2	actinin alpha 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868|PMID:28492532
1308097	Actn2	actinin alpha 2	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction	
1308097	Actn2	actinin alpha 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1317671	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, idiopathic dilated, mitochondrial | ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29760345|PMID:29773157|PMID:29892087|PMID:29915097|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34471957|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35063694|PMID:35656879|PMID:35975100|PMID:36005429|PMID:36252119|PMID:37477868|PMID:37904629|PMID:38296580|PMID:38311799|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:14567970|PMID:16199547|PMID:17576681|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29447731|PMID:29892087|PMID:29915097|PMID:29961767|PMID:30615648|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31983221|PMID:32746448|PMID:32880476|PMID:32931854|PMID:33476543|PMID:33500567|PMID:34471957|PMID:34540771|PMID:34935411|PMID:35026164|PMID:35656879|PMID:36252119|PMID:37461109|PMID:37477868|PMID:37834023|PMID:37937352|PMID:38311799|PMID:39068400|PMID:39554508|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:28492532
1308097	Actn2	actinin alpha 2	gene	DOID:0081342	congenital myopathy 8		ISO	RGD:1317671	D	RGD:7240710	20200115	OMIM			
1308097	Actn2	actinin alpha 2	gene	DOID:0081342	congenital myopathy 8		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 8 | ClinVar Annotator: match by term: MULTIPLE STRUCTURED CORE DISEASE | ClinVar Annotator: match by term: Myopathy, congenital, with structured cores and z-line abnormalities	PMID:14567970|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29915097|PMID:30701273|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31983221|PMID:32746448|PMID:32880476|PMID:34935411|PMID:35026164|PMID:37477868|PMID:37834023|PMID:39068400
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:17097056|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27896284|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28790153|PMID:28798025|PMID:29247119|PMID:30615648|PMID:30775854|PMID:31110529|PMID:31333075|PMID:31568572
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27707468|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32931854|PMID:35656879|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27854218|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32931854|PMID:35656879|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35656879|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35656879|PMID:36005429|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29760345|PMID:29773157|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34471957|PMID:34935411|PMID:35026164|PMID:35656879|PMID:36005429|PMID:37477868|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29760345|PMID:29773157|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32826072|PMID:32931854|PMID:34471957|PMID:34935411|PMID:35026164|PMID:35656879|PMID:36005429|PMID:37477868|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29760345|PMID:29773157|PMID:29892087|PMID:29915097|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34471957|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35063694|PMID:35656879|PMID:36005429|PMID:36252119|PMID:37477868|PMID:37904629|PMID:38296580|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29760345|PMID:29773157|PMID:29892087|PMID:29915097|PMID:29961767|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34471957|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35063694|PMID:35656879|PMID:35975100|PMID:36005429|PMID:36252119|PMID:37461109|PMID:37477868|PMID:37834023|PMID:37904629|PMID:38296580|PMID:38311799|PMID:38757491|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29760345|PMID:29773157|PMID:29892087|PMID:29915097|PMID:29961767|PMID:30086531|PMID:30165862|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32492895|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32931854|PMID:33057194|PMID:33500567|PMID:34471957|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35063694|PMID:35656879|PMID:35975100|PMID:36005429|PMID:36252119|PMID:37461109|PMID:37477868|PMID:37834023|PMID:37904629|PMID:38296580|PMID:38311799|PMID:38757491|PMID:39068400|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25741868|PMID:26688388|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27930701|PMID:28492532|PMID:28640247|PMID:28986455|PMID:29247119|PMID:29915097|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31983221|PMID:32931854|PMID:33500567|PMID:35026164|PMID:35656879|PMID:36252119|PMID:37477868|PMID:37834023|PMID:39554508|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17576681|PMID:20022194|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25741868|PMID:26688388|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27930701|PMID:28492532|PMID:28640247|PMID:28986455|PMID:29247119|PMID:29915097|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31983221|PMID:32931854|PMID:33500567|PMID:35026164|PMID:35656879|PMID:36252119|PMID:37477868|PMID:37834023|PMID:39554508|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17576681|PMID:20022194|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26688388|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27930701|PMID:28492532|PMID:28640247|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29915097|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31983221|PMID:32931854|PMID:33500567|PMID:35026164|PMID:35656879|PMID:36252119|PMID:37477868|PMID:37834023|PMID:39554508|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17576681|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25173926|PMID:25224718|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27896284|PMID:27930701|PMID:28492532|PMID:28640247|PMID:28986455|PMID:29247119|PMID:29875424|PMID:29915097|PMID:30615648|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31956495|PMID:31983221|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35026164|PMID:35656879|PMID:36252119|PMID:37477868|PMID:37834023|PMID:39068400|PMID:39554508|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1317671	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:25741868
1308097	Actn2	actinin alpha 2	gene	DOID:0110428	dilated cardiomyopathy 1AA		ISO	RGD:1317671	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308097	Actn2	actinin alpha 2	gene	DOID:0110428	dilated cardiomyopathy 1AA		ISO	RGD:1317671	D	RGD:7240710	20130425	OMIM			
1308097	Actn2	actinin alpha 2	gene	DOID:0110428	dilated cardiomyopathy 1AA		ISO	RGD:1317671	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24274751|PMID:24503780|PMID:25173926|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27114410|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28878402|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29447731|PMID:29875424|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31680489|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34540771|PMID:34802252|PMID:35656879|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110428	dilated cardiomyopathy 1AA		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23 | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24274751|PMID:24503780|PMID:25173926|PMID:25224718|PMID:25640679|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27114410|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28123168|PMID:28436997|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29447731|PMID:29760345|PMID:29875424|PMID:29892087|PMID:29915097|PMID:29961767|PMID:30615648|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31680489|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32746448|PMID:32880476|PMID:32931854|PMID:32973354|PMID:33476543|PMID:33500567|PMID:34471957|PMID:34540771|PMID:34598319|PMID:34802252|PMID:34935411|PMID:35026164|PMID:35352813|PMID:35656879|PMID:36005429|PMID:36078153|PMID:36116040|PMID:36252119|PMID:37271035|PMID:37461109|PMID:37477868|PMID:37834023|PMID:37937352|PMID:38296580|PMID:38311799|PMID:39068400|PMID:39554508|PMID:9536098
1308097	Actn2	actinin alpha 2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:28492532|PMID:38311799
1308097	Actn2	actinin alpha 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1317671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:20022194|PMID:23861362|PMID:24033266|PMID:25224718|PMID:25741868|PMID:27287556|PMID:27532257|PMID:28492532|PMID:28771489|PMID:30165862|PMID:31513939|PMID:31983221|PMID:32931854|PMID:35656879|PMID:39554508
1308097	Actn2	actinin alpha 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:14567970|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25741868|PMID:26899768|PMID:27287556|PMID:27896284|PMID:28492532|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35656879
1308097	Actn2	actinin alpha 2	gene	DOID:1909	melanoma		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308097	Actn2	actinin alpha 2	gene	DOID:219	colon cancer		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:24033266|PMID:25741868|PMID:28492532|PMID:28640247
1308097	Actn2	actinin alpha 2	gene	DOID:3529	congenital myopathy 1A		ISO	RGD:1317671	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Central core myopathy	PMID:25741868|PMID:28492532|PMID:38311799
1308097	Actn2	actinin alpha 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1317671	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:28492532
1308097	Actn2	actinin alpha 2	gene	DOID:423	myopathy		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
1308097	Actn2	actinin alpha 2	gene	DOID:440	neuromuscular disease		ISO	RGD:1317671	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disorder	PMID:25741868|PMID:28492532|PMID:38311799
1308097	Actn2	actinin alpha 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317671	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308097	Actn2	actinin alpha 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1317671	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:25741868|PMID:28492532
1308097	Actn2	actinin alpha 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308097	Actn2	actinin alpha 2	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1317671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:20022194|PMID:24033266|PMID:25741868|PMID:28492532
1308097	Actn2	actinin alpha 2	gene	DOID:767	muscular atrophy		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868|PMID:28492532|PMID:38311799
1308097	Actn2	actinin alpha 2	gene	DOID:893	Wilson disease		ISO	RGD:1317671	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Wilson disease	PMID:24082139|PMID:25326637|PMID:25741868|PMID:28492532
1308097	Actn2	actinin alpha 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532|PMID:38311799
1308097	Actn2	actinin alpha 2	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:28492532
1308097	Actn2	actinin alpha 2	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1317671	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868|PMID:28492532|PMID:29447731|PMID:31110529|PMID:31333075|PMID:31568572|PMID:33476543|PMID:33500567|PMID:34540771|PMID:39068400
1308097	Actn2	actinin alpha 2	gene	DOID:9004033	Distal Myopathy 6		ISO	RGD:1317671	D	RGD:7240710	20191127	OMIM			
1308097	Actn2	actinin alpha 2	gene	DOID:9004033	Distal Myopathy 6		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant	PMID:14567970|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29915097|PMID:30847666|PMID:30900782|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31983221|PMID:32746448|PMID:32880476|PMID:34935411|PMID:35026164|PMID:37477868|PMID:37834023|PMID:38311799|PMID:39068400
1308097	Actn2	actinin alpha 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532|PMID:38311799
1308097	Actn2	actinin alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308097	Actn2	actinin alpha 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308097	Actn2	actinin alpha 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308097	Actn2	actinin alpha 2	gene	DOID:9834	hyperopia		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:24033266|PMID:25741868|PMID:28492532|PMID:28640247
1308098	Hapln3	hyaluronan and proteoglycan link protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308098	Hapln3	hyaluronan and proteoglycan link protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308098	Hapln3	hyaluronan and proteoglycan link protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308098	Hapln3	hyaluronan and proteoglycan link protein 3	gene	DOID:3275	thymoma		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308098	Hapln3	hyaluronan and proteoglycan link protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1317673	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308098	Hapln3	hyaluronan and proteoglycan link protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308098	Hapln3	hyaluronan and proteoglycan link protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308098	Hapln3	hyaluronan and proteoglycan link protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308098	Hapln3	hyaluronan and proteoglycan link protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308098	Hapln3	hyaluronan and proteoglycan link protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308101	Cntln	centlein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308101	Cntln	centlein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308101	Cntln	centlein	gene	DOID:0060058	lymphoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308101	Cntln	centlein	gene	DOID:10534	stomach cancer		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308101	Cntln	centlein	gene	DOID:1115	sarcoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308101	Cntln	centlein	gene	DOID:1324	lung cancer		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308101	Cntln	centlein	gene	DOID:13938	amenorrhea		ISO	RGD:1317678	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
1308101	Cntln	centlein	gene	DOID:1909	melanoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308101	Cntln	centlein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308101	Cntln	centlein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308101	Cntln	centlein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308101	Cntln	centlein	gene	DOID:4362	cervical cancer		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308101	Cntln	centlein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317678	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308101	Cntln	centlein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308101	Cntln	centlein	gene	DOID:6039	uveal melanoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308101	Cntln	centlein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308101	Cntln	centlein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308101	Cntln	centlein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308101	Cntln	centlein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308101	Cntln	centlein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308101	Cntln	centlein	gene	DOID:9256	colorectal cancer		ISO	RGD:1317678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308102	Plac8	placenta associated 8	gene	DOID:10603	glucose intolerance		IEP		D	RGD:10755343|PMID:26296322	20160907	RGD		associated with obesity	
1308102	Plac8	placenta associated 8	gene	DOID:1324	lung cancer		ISO	RGD:1317680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308102	Plac8	placenta associated 8	gene	DOID:13272	Klebsiella pneumonia	severity	ISO	RGD:1317681	D	RGD:40924563|PMID:17404296	20210113	RGD			
1308102	Plac8	placenta associated 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317680	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308102	Plac8	placenta associated 8	gene	DOID:9000371	influenza A		ISO	RGD:1317681	D	RGD:40925929|PMID:32639988	20210122	RGD			
1308102	Plac8	placenta associated 8	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317680	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308102	Plac8	placenta associated 8	gene	DOID:9002953	Escherichia Coli Infections	severity	ISO	RGD:1317681	D	RGD:40924563|PMID:17404296	20210113	RGD			
1308102	Plac8	placenta associated 8	gene	DOID:9007692	Insulin Resistance		IEP		D	RGD:10755343|PMID:26296322	20160907	RGD		associated with obesity	
1308102	Plac8	placenta associated 8	gene	DOID:9008090	Chlamydiaceae Infections	exacerbates	ISO	RGD:1317681	D	RGD:9068941	20210205	RGD			PMID:22238459|REF_RGD_ID:40925930
1308102	Plac8	placenta associated 8	gene	DOID:9008090	Chlamydiaceae Infections	severity	ISO	RGD:1317681	D	RGD:40925930|PMID:22238459	20210122	RGD			
1308103	Usp39	ubiquitin specific peptidase 39	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308103	Usp39	ubiquitin specific peptidase 39	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308103	Usp39	ubiquitin specific peptidase 39	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308103	Usp39	ubiquitin specific peptidase 39	gene	DOID:1115	sarcoma		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308103	Usp39	ubiquitin specific peptidase 39	gene	DOID:3275	thymoma		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308103	Usp39	ubiquitin specific peptidase 39	gene	DOID:4362	cervical cancer		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308103	Usp39	ubiquitin specific peptidase 39	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308103	Usp39	ubiquitin specific peptidase 39	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308103	Usp39	ubiquitin specific peptidase 39	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1317682	D	RGD:11554173	20221004	CTD		CTD Direct Evidence: marker/mechanism	PMID:34822033
1308103	Usp39	ubiquitin specific peptidase 39	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1317682	D	RGD:11554173	20221004	CTD		CTD Direct Evidence: marker/mechanism	PMID:34822033
1308103	Usp39	ubiquitin specific peptidase 39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308103	Usp39	ubiquitin specific peptidase 39	gene	DOID:9256	colorectal cancer		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308104	Slc25a29	solute carrier family 25 member 29	gene	DOID:0080600	COVID-19		ISO	RGD:1317684	D	RGD:9068941	20200613	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308104	Slc25a29	solute carrier family 25 member 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308104	Slc25a29	solute carrier family 25 member 29	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1308104	Slc25a29	solute carrier family 25 member 29	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308104	Slc25a29	solute carrier family 25 member 29	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1317684	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1308104	Slc25a29	solute carrier family 25 member 29	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:1115	sarcoma		ISO	RGD:1317686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:1324	lung cancer		ISO	RGD:1317686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1317686	D	RGD:127229932|PMID:24909178	20210603	RGD			
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:1909	melanoma		ISO	RGD:1317686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:3458	breast adenocarcinoma	severity	ISO	RGD:1317686	D	RGD:127229932|PMID:24909178	20210603	RGD			
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317686	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308105	Ksr1	kinase suppressor of ras 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308106	Spindoc	spindlin interactor and repressor of chromatin binding	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308106	Spindoc	spindlin interactor and repressor of chromatin binding	gene	DOID:10534	stomach cancer		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308106	Spindoc	spindlin interactor and repressor of chromatin binding	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308106	Spindoc	spindlin interactor and repressor of chromatin binding	gene	DOID:1115	sarcoma		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308106	Spindoc	spindlin interactor and repressor of chromatin binding	gene	DOID:4362	cervical cancer		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308106	Spindoc	spindlin interactor and repressor of chromatin binding	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308106	Spindoc	spindlin interactor and repressor of chromatin binding	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308106	Spindoc	spindlin interactor and repressor of chromatin binding	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308106	Spindoc	spindlin interactor and repressor of chromatin binding	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308107	Ldhd	lactate dehydrogenase D	gene	DOID:10534	stomach cancer		ISO	RGD:1317689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308107	Ldhd	lactate dehydrogenase D	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308107	Ldhd	lactate dehydrogenase D	gene	DOID:4362	cervical cancer		ISO	RGD:1317689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308107	Ldhd	lactate dehydrogenase D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308107	Ldhd	lactate dehydrogenase D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308107	Ldhd	lactate dehydrogenase D	gene	DOID:9000653	Lactic Aciduria due to D-Lactic Acid		ISO	RGD:1317689	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: D-LACTIC ACIDURIA | ClinVar Annotator: match by term: LDHD-related condition | ClinVar Annotator: match by term: Lactic aciduria due to D-lactic acid	PMID:25741868|PMID:28492532|PMID:30931947
1308107	Ldhd	lactate dehydrogenase D	gene	DOID:9000653	Lactic Aciduria due to D-Lactic Acid	susceptibility	ISO	RGD:1317689	D	RGD:7240710	20200520	OMIM			
1308107	Ldhd	lactate dehydrogenase D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308107	Ldhd	lactate dehydrogenase D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308107	Ldhd	lactate dehydrogenase D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308108	Cabp5	calcium binding protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1317691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308109	Thap3	THAP domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308109	Thap3	THAP domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308109	Thap3	THAP domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308109	Thap3	THAP domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308109	Thap3	THAP domain containing 3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1351040	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1308109	Thap3	THAP domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308109	Thap3	THAP domain containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308109	Thap3	THAP domain containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308109	Thap3	THAP domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308109	Thap3	THAP domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308109	Thap3	THAP domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308111	Otud7b	OTU deubiquitinase 7B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308111	Otud7b	OTU deubiquitinase 7B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308111	Otud7b	OTU deubiquitinase 7B	gene	DOID:1115	sarcoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308111	Otud7b	OTU deubiquitinase 7B	gene	DOID:1324	lung cancer		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308111	Otud7b	OTU deubiquitinase 7B	gene	DOID:1909	melanoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308111	Otud7b	OTU deubiquitinase 7B	gene	DOID:2394	ovarian cancer		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308111	Otud7b	OTU deubiquitinase 7B	gene	DOID:3275	thymoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308111	Otud7b	OTU deubiquitinase 7B	gene	DOID:4362	cervical cancer		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308111	Otud7b	OTU deubiquitinase 7B	gene	DOID:5041	esophageal cancer		ISO	RGD:1352780	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308111	Otud7b	OTU deubiquitinase 7B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308111	Otud7b	OTU deubiquitinase 7B	gene	DOID:9001981	Weight Loss		ISO	RGD:1352780	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: therapeutic	PMID:36639017
1308113	Emc9	ER membrane protein complex subunit 9	gene	DOID:10534	stomach cancer		ISO	RGD:1317698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308113	Emc9	ER membrane protein complex subunit 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1317698	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308113	Emc9	ER membrane protein complex subunit 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308113	Emc9	ER membrane protein complex subunit 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308113	Emc9	ER membrane protein complex subunit 9	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1308113	Emc9	ER membrane protein complex subunit 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308114	Sugct	succinylCoA:glutarate-CoA transferase	gene	DOID:0112246	glutaric acidemia type 3		ISO	RGD:1317700	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308114	Sugct	succinylCoA:glutarate-CoA transferase	gene	DOID:0112246	glutaric acidemia type 3		ISO	RGD:1317700	D	RGD:7240710	20190315	OMIM			
1308114	Sugct	succinylCoA:glutarate-CoA transferase	gene	DOID:0112246	glutaric acidemia type 3		ISO	RGD:1317700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLUTARIC ACIDURIA III | ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency | ClinVar Annotator: match by term: SUGCT-related condition | ClinVar Annotator: match by term: glutaric acidemia type 3	PMID:18925613|PMID:18926513|PMID:20818383|PMID:23893049|PMID:24467814|PMID:25741868|PMID:28492532|PMID:28766179|PMID:31028937|PMID:31722069|PMID:31980526|PMID:32779420|PMID:34532947
1308114	Sugct	succinylCoA:glutarate-CoA transferase	gene	DOID:0112246	glutaric acidemia type 3		ISS	RGD:1317701	D	RGD:13592920	20230718	MouseDO		OMIM:231690	
1308114	Sugct	succinylCoA:glutarate-CoA transferase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:18925613|PMID:18926513|PMID:20818383|PMID:23893049|PMID:24467814|PMID:25741868|PMID:28492532|PMID:28766179|PMID:31028937|PMID:31722069|PMID:31980526|PMID:34532947
1308114	Sugct	succinylCoA:glutarate-CoA transferase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1317700	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098869
1308114	Sugct	succinylCoA:glutarate-CoA transferase	gene	DOID:1891	optic nerve disease		ISO	RGD:1317700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:18925613|PMID:18926513|PMID:20818383|PMID:23893049|PMID:24467814|PMID:25741868|PMID:28492532|PMID:28766179|PMID:31028937|PMID:31722069|PMID:31980526|PMID:34532947
1308114	Sugct	succinylCoA:glutarate-CoA transferase	gene	DOID:480	movement disease		ISO	RGD:1317700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:18925613|PMID:18926513|PMID:20818383|PMID:23893049|PMID:24467814|PMID:25741868|PMID:28492532|PMID:28766179|PMID:31028937|PMID:31722069|PMID:31980526|PMID:34532947
1308114	Sugct	succinylCoA:glutarate-CoA transferase	gene	DOID:6364	migraine		ISO	RGD:1317700	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23793025
1308114	Sugct	succinylCoA:glutarate-CoA transferase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1317700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:18925613|PMID:18926513|PMID:20818383|PMID:23893049|PMID:24467814|PMID:25741868|PMID:28492532|PMID:28766179|PMID:31028937|PMID:31722069|PMID:31980526|PMID:34532947
1308114	Sugct	succinylCoA:glutarate-CoA transferase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317700	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1308114	Sugct	succinylCoA:glutarate-CoA transferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:18925613|PMID:18926513|PMID:20818383|PMID:23893049|PMID:24467814|PMID:25741868|PMID:28492532|PMID:28766179|PMID:31028937|PMID:31722069|PMID:31980526|PMID:34532947
1308114	Sugct	succinylCoA:glutarate-CoA transferase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1317700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:18925613|PMID:18926513|PMID:20818383|PMID:23893049|PMID:24467814|PMID:25741868|PMID:28492532|PMID:28766179|PMID:31028937|PMID:31722069|PMID:31980526|PMID:34532947
1308117	C15h8orf58	similar to human chromosome 8 open reading frame 58	gene	DOID:1115	sarcoma		ISO	RGD:1604880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308117	C15h8orf58	similar to human chromosome 8 open reading frame 58	gene	DOID:1909	melanoma		ISO	RGD:1604880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308117	C15h8orf58	similar to human chromosome 8 open reading frame 58	gene	DOID:4362	cervical cancer		ISO	RGD:1604880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308117	C15h8orf58	similar to human chromosome 8 open reading frame 58	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308117	C15h8orf58	similar to human chromosome 8 open reading frame 58	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308117	C15h8orf58	similar to human chromosome 8 open reading frame 58	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308118	Sh3bgrl3	SH3 domain binding glutamate-rich protein like 3	gene	DOID:1324	lung cancer		ISO	RGD:1317706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308118	Sh3bgrl3	SH3 domain binding glutamate-rich protein like 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317706	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308119	Amn1	antagonist of mitotic exit network 1 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308119	Amn1	antagonist of mitotic exit network 1 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1606942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308119	Amn1	antagonist of mitotic exit network 1 homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308120	Htra3	HtrA serine peptidase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1354015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308120	Htra3	HtrA serine peptidase 3	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1354015	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
1308120	Htra3	HtrA serine peptidase 3	gene	DOID:3275	thymoma		ISO	RGD:1354015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308120	Htra3	HtrA serine peptidase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1354015	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308120	Htra3	HtrA serine peptidase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308120	Htra3	HtrA serine peptidase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308121	Zfp207	zinc finger protein 207	gene	DOID:10534	stomach cancer		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308121	Zfp207	zinc finger protein 207	gene	DOID:1909	melanoma		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308121	Zfp207	zinc finger protein 207	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308121	Zfp207	zinc finger protein 207	gene	DOID:3070	high grade glioma		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308121	Zfp207	zinc finger protein 207	gene	DOID:4362	cervical cancer		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308121	Zfp207	zinc finger protein 207	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308121	Zfp207	zinc finger protein 207	gene	DOID:6039	uveal melanoma		ISO	RGD:1317710	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308121	Zfp207	zinc finger protein 207	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308121	Zfp207	zinc finger protein 207	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308122	Gna14	G protein subunit alpha 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308122	Gna14	G protein subunit alpha 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308122	Gna14	G protein subunit alpha 14	gene	DOID:1115	sarcoma		ISO	RGD:1317712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308122	Gna14	G protein subunit alpha 14	gene	DOID:2394	ovarian cancer		ISO	RGD:1317712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308122	Gna14	G protein subunit alpha 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308122	Gna14	G protein subunit alpha 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308122	Gna14	G protein subunit alpha 14	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317712	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308122	Gna14	G protein subunit alpha 14	gene	DOID:9002189	High Myopia		ISO	RGD:1317712	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1308122	Gna14	G protein subunit alpha 14	gene	DOID:9002640	CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME		ISO	RGD:1317712	D	RGD:8554872	20230613	ClinVar		ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome	
1308122	Gna14	G protein subunit alpha 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308123	Zfp414	zinc finger protein 414	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308123	Zfp414	zinc finger protein 414	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308123	Zfp414	zinc finger protein 414	gene	DOID:1909	melanoma		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308123	Zfp414	zinc finger protein 414	gene	DOID:3275	thymoma		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308123	Zfp414	zinc finger protein 414	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308123	Zfp414	zinc finger protein 414	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308123	Zfp414	zinc finger protein 414	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308123	Zfp414	zinc finger protein 414	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308124	Nhsl1	NHS-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308124	Nhsl1	NHS-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308124	Nhsl1	NHS-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308124	Nhsl1	NHS-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308124	Nhsl1	NHS-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308125	Slc35f5	solute carrier family 35, member F5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308125	Slc35f5	solute carrier family 35, member F5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308125	Slc35f5	solute carrier family 35, member F5	gene	DOID:1324	lung cancer		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308125	Slc35f5	solute carrier family 35, member F5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308125	Slc35f5	solute carrier family 35, member F5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308125	Slc35f5	solute carrier family 35, member F5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308125	Slc35f5	solute carrier family 35, member F5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308125	Slc35f5	solute carrier family 35, member F5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308125	Slc35f5	solute carrier family 35, member F5	gene	DOID:9256	colorectal cancer		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308126	Mzt2	mitotic spindle organizing protein 2	gene	DOID:0060058	lymphoma		ISO	RGD:1603721	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308126	Mzt2	mitotic spindle organizing protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308126	Mzt2	mitotic spindle organizing protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308127	Cacul1	CDK2-associated, cullin domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308127	Cacul1	CDK2-associated, cullin domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308127	Cacul1	CDK2-associated, cullin domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308127	Cacul1	CDK2-associated, cullin domain 1	gene	DOID:1909	melanoma		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308127	Cacul1	CDK2-associated, cullin domain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308127	Cacul1	CDK2-associated, cullin domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317719	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308127	Cacul1	CDK2-associated, cullin domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308127	Cacul1	CDK2-associated, cullin domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308127	Cacul1	CDK2-associated, cullin domain 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1317719	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
1308127	Cacul1	CDK2-associated, cullin domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308127	Cacul1	CDK2-associated, cullin domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308128	Qpctl	glutaminyl-peptide cyclotransferase-like	gene	DOID:1115	sarcoma		ISO	RGD:1350934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308128	Qpctl	glutaminyl-peptide cyclotransferase-like	gene	DOID:3275	thymoma		ISO	RGD:1350934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308128	Qpctl	glutaminyl-peptide cyclotransferase-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308128	Qpctl	glutaminyl-peptide cyclotransferase-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308128	Qpctl	glutaminyl-peptide cyclotransferase-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308128	Qpctl	glutaminyl-peptide cyclotransferase-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308129	Cggbp1	CGG triplet repeat binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308129	Cggbp1	CGG triplet repeat binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308129	Cggbp1	CGG triplet repeat binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308129	Cggbp1	CGG triplet repeat binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308130	Ndufb2	NADH:ubiquinone oxidoreductase subunit B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308130	Ndufb2	NADH:ubiquinone oxidoreductase subunit B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308130	Ndufb2	NADH:ubiquinone oxidoreductase subunit B2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308131	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308131	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308131	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308131	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308131	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1317726	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:25741868|PMID:28492532
1308131	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:3627	aortic aneurysm		ISO	RGD:1317726	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: aortic aneurysm	PMID:28492532|PMID:29689197
1308131	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317726	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308131	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308131	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1308131	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308131	Arih1	ariadne RBR E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308133	Fam135b	family with sequence similarity 135, member B	gene	DOID:10534	stomach cancer		ISO	RGD:1606292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308133	Fam135b	family with sequence similarity 135, member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer	
1308133	Fam135b	family with sequence similarity 135, member B	gene	DOID:1909	melanoma		ISO	RGD:1606292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308133	Fam135b	family with sequence similarity 135, member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308133	Fam135b	family with sequence similarity 135, member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308133	Fam135b	family with sequence similarity 135, member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317732	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:11479539|PMID:11916958|PMID:14557463|PMID:14981520|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23963299|PMID:24024128|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26282322|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27564575|PMID:27612026|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28166811|PMID:28362824|PMID:28492532|PMID:28832565|PMID:29336362|PMID:29482223|PMID:30903322|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32397312|PMID:5964029|PMID:9536098
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317732	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:11479539|PMID:11916958|PMID:12030893|PMID:14557463|PMID:14981520|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19762912|PMID:19763152|PMID:20307669|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22406018|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23963299|PMID:24024128|PMID:24345054|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27452399|PMID:27549087|PMID:27564575|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28362824|PMID:28492532|PMID:28832565|PMID:28916377|PMID:29336362|PMID:29478747|PMID:29482223|PMID:29934652|PMID:30150100|PMID:30903322|PMID:30919572|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32041611|PMID:32397312|PMID:32792356|PMID:5964029|PMID:9536098
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317732	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:11479539|PMID:11916958|PMID:12030893|PMID:12362029|PMID:14557463|PMID:14981520|PMID:15126564|PMID:15181077|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18690553|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19762912|PMID:19763152|PMID:20307669|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22406018|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23963299|PMID:23989774|PMID:24024128|PMID:24345054|PMID:24451228|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26282322|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27549087|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28362824|PMID:28492532|PMID:28832565|PMID:28916377|PMID:29336362|PMID:29478747|PMID:29482223|PMID:29934652|PMID:30150100|PMID:30903322|PMID:30919572|PMID:31372974|PMID:31475473|PMID:31770241|PMID:31824185|PMID:32041611|PMID:32320108|PMID:32397312|PMID:32792356|PMID:35351089|PMID:35922214|PMID:5964029|PMID:9536098
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317732	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:11479539|PMID:11916958|PMID:12030893|PMID:12362029|PMID:14557463|PMID:14981520|PMID:15126564|PMID:15181077|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18612770|PMID:18690553|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19762912|PMID:19763152|PMID:20307669|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22406018|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23963299|PMID:23989774|PMID:24024128|PMID:24345054|PMID:24451228|PMID:24503134|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26282322|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27549087|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28362824|PMID:28492532|PMID:28832565|PMID:28916377|PMID:29269637|PMID:29336362|PMID:29478747|PMID:29482223|PMID:29934652|PMID:30150100|PMID:30903322|PMID:30919572|PMID:31372974|PMID:31475473|PMID:31770241|PMID:31824185|PMID:32041611|PMID:32320108|PMID:32397312|PMID:32792356|PMID:34085946|PMID:34942918|PMID:35351089|PMID:35922214|PMID:5964029|PMID:9536098
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317732	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:11479539|PMID:12030893|PMID:12362029|PMID:14557463|PMID:14981520|PMID:15126564|PMID:15181077|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18612770|PMID:18690553|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19762912|PMID:19763152|PMID:20307669|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22406018|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23963299|PMID:23989774|PMID:24024128|PMID:24345054|PMID:24451228|PMID:24503134|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26282322|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27549087|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28362824|PMID:28492532|PMID:28832565|PMID:28916377|PMID:29269637|PMID:29336362|PMID:29478747|PMID:29482223|PMID:29934652|PMID:30150100|PMID:30903322|PMID:30919572|PMID:31372974|PMID:31475473|PMID:31770241|PMID:31824185|PMID:32041611|PMID:32320108|PMID:32397312|PMID:32792356|PMID:34085946|PMID:34942918|PMID:35351089|PMID:35922214|PMID:5964029|PMID:9536098
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317732	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:11479539|PMID:12030893|PMID:12362029|PMID:14557463|PMID:14981520|PMID:15126564|PMID:15181077|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18612770|PMID:18690553|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19762912|PMID:19763152|PMID:20307669|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22406018|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23963299|PMID:23989774|PMID:24024128|PMID:24345054|PMID:24451228|PMID:24503134|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26282322|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27549087|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28362824|PMID:28492532|PMID:28832565|PMID:28916377|PMID:29269637|PMID:29336362|PMID:29478747|PMID:29482223|PMID:29934652|PMID:30150100|PMID:30903322|PMID:30919572|PMID:31372974|PMID:31475473|PMID:31770241|PMID:31824185|PMID:32041611|PMID:32320108|PMID:32397312|PMID:32792356|PMID:34085946|PMID:34232518|PMID:34942918|PMID:35351089|PMID:35922214|PMID:5964029|PMID:9536098
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317732	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:11479539|PMID:12030893|PMID:12362029|PMID:14557463|PMID:14981520|PMID:15126564|PMID:15181077|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18093937|PMID:18585921|PMID:18612770|PMID:18690553|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19762912|PMID:19763152|PMID:20307669|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22406018|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23963299|PMID:23989774|PMID:24024128|PMID:24345054|PMID:24451228|PMID:24503134|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27452399|PMID:27549087|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28362824|PMID:28492532|PMID:28832565|PMID:28916377|PMID:29269637|PMID:29336362|PMID:29478747|PMID:29482223|PMID:29525178|PMID:29934652|PMID:30150100|PMID:30903322|PMID:30919572|PMID:31369919|PMID:31372974|PMID:31475473|PMID:31770241|PMID:31824185|PMID:32041611|PMID:32108980|PMID:32320108|PMID:32397312|PMID:32792356|PMID:32876150|PMID:34085946|PMID:34190362|PMID:34232518|PMID:34942918|PMID:35351089|PMID:35922214|PMID:37541188|PMID:5964029|PMID:9536098
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1317732	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	PMID:11479539|PMID:19226263|PMID:23564749|PMID:24024128|PMID:28492532
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:0050585	congenital generalized lipodystrophy		ISO	RGD:1317732	D	RGD:11554173	20180529	CTD		CTD Direct Evidence: marker/mechanism	
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:0081401	autosomal dominant distal hereditary motor neuronopathy 13		ISO	RGD:1317732	D	RGD:7240710	20201223	OMIM			
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:0110770	hereditary spastic paraplegia 17		ISO	RGD:1317732	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:0110770	hereditary spastic paraplegia 17		ISO	RGD:1317732	D	RGD:7240710	20130221	OMIM			
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:0111136	congenital generalized lipodystrophy type 2		ISO	RGD:1317732	D	RGD:7240710	20180523	OMIM			
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:0111136	congenital generalized lipodystrophy type 2		ISS	RGD:1317733	D	RGD:13592920	20230718	MouseDO		OMIM:269700	
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:12336	male infertility		ISS	RGD:1317733	D	RGD:13592920	20180518	MouseDO			
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:14227	azoospermia		IMP		D	RGD:11085488|PMID:25934999	20190109	RGD			
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:14228	oligospermia		ISO	RGD:1317732	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26181198
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1317732	D	RGD:1600602|PMID:13680364	20070319	RGD		SPG17, OMIM:270685, DNA:point mutation:exon:N88S	
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1317732	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:11479539|PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532|PMID:28832565|PMID:30004997|PMID:5964029
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1317732	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:11479539|PMID:14981520|PMID:15126564|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18612770|PMID:18690553|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27738760|PMID:28492532|PMID:28832565|PMID:29269637|PMID:31824185|PMID:32320108|PMID:34085946|PMID:34942918|PMID:35351089|PMID:5964029
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:811	lipodystrophy		ISO	RGD:1317732	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25462787
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:811	lipodystrophy		ISO	RGD:1317732	D	RGD:1600601|PMID:11479539	20070319	RGD		CGL2, OMIM:269700, DNA:frameshift:exon	
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1317732	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25462787
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:9001513	Asthenozoospermia		ISO	RGD:1317732	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26181198
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1317732	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25462787
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:9007692	Insulin Resistance		IMP		D	RGD:11085488|PMID:25934999	20190109	RGD			
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:9007902	Progressive Encephalopathy, with or without Lipodystrophy		ISO	RGD:1317732	D	RGD:7240710	20150121	OMIM			
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:9351	diabetes mellitus		ISO	RGD:1317732	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:23430896|PMID:23963299|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30004997
1308135	Bscl2	BSCL2 lipid droplet biogenesis associated, seipin	gene	DOID:9352	type 2 diabetes mellitus	no_association	IAGP		D	RGD:1600600|PMID:12584444	20070319	RGD			
1308136	Nphp1	nephrocystin 1	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1317734	D	RGD:11554173	20190402	CTD		CTD Direct Evidence: marker/mechanism	
1308136	Nphp1	nephrocystin 1	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1317734	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
1308136	Nphp1	nephrocystin 1	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS | ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis	PMID:10620543|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25741868|PMID:27004562|PMID:27806791|PMID:28492532|PMID:30108342|PMID:31523374|PMID:32483926|PMID:9536098
1308136	Nphp1	nephrocystin 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1317734	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:23559409|PMID:28002029|PMID:28492532|PMID:34090716
1308136	Nphp1	nephrocystin 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1317734	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28002029|PMID:28492532|PMID:34090716
1308136	Nphp1	nephrocystin 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1317734	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28002029|PMID:28492532|PMID:33083013|PMID:34031707|PMID:34090716
1308136	Nphp1	nephrocystin 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:23559409|PMID:25741868|PMID:25851290|PMID:28002029|PMID:28492532|PMID:33083013|PMID:34031707|PMID:34090716
1308136	Nphp1	nephrocystin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308136	Nphp1	nephrocystin 1	gene	DOID:0061277	Senior-Loken syndrome 1		ISO	RGD:1317734	D	RGD:7240710	20190327	OMIM			
1308136	Nphp1	nephrocystin 1	gene	DOID:0061277	Senior-Loken syndrome 1		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Senior-Loken syndrome 1	PMID:10620543|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25741868|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:30108342|PMID:31523374|PMID:32483926|PMID:9536098
1308136	Nphp1	nephrocystin 1	gene	DOID:0070777	syndromic X-linked intellectual developmental disorder, Snijders Blok type		ISO	RGD:1317734	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Snijders Blok type	PMID:24746959|PMID:25741868|PMID:28492532
1308136	Nphp1	nephrocystin 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1317734	D	RGD:8554872	20200609	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:24746959|PMID:25741868|PMID:28492532
1308136	Nphp1	nephrocystin 1	gene	DOID:0110999	Joubert syndrome 4		ISO	RGD:1317734	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308136	Nphp1	nephrocystin 1	gene	DOID:0110999	Joubert syndrome 4		ISO	RGD:1317734	D	RGD:7240710	20130221	OMIM			
1308136	Nphp1	nephrocystin 1	gene	DOID:0110999	Joubert syndrome 4		ISO	RGD:1317734	D	RGD:7246903|PMID:17409309	20130620	RGD		associated with Kidney Diseases, Cystic;DNA:mutation	
1308136	Nphp1	nephrocystin 1	gene	DOID:0110999	Joubert syndrome 4		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 4 | ClinVar Annotator: match by term: Joubert syndrome 4 | ClinVar Annotator: match by term: Joubert syndrome with renal defect	PMID:10620543|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25741868|PMID:27004562|PMID:27806791|PMID:28492532|PMID:30108342|PMID:31523374|PMID:32483926|PMID:37230223|PMID:9536098
1308136	Nphp1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1317734	D	RGD:11537341|PMID:18076122	20160929	RGD		DNA:mutations:exon, intron:multiple	
1308136	Nphp1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1317734	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308136	Nphp1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1317734	D	RGD:7240710	20130221	OMIM			
1308136	Nphp1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1317734	D	RGD:7246900|PMID:22982934	20130620	RGD		DNA:deletion: :	
1308136	Nphp1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1317734	D	RGD:7246902|PMID:21258817	20130620	RGD		DNA:deletion: :	
1308136	Nphp1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1317734	D	RGD:7246904|PMID:16762963	20130620	RGD		DNA:missense mutations:cds:p.R586X (human)	
1308136	Nphp1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1317734	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:10980528|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17409309|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28002029|PMID:28492532|PMID:28559085|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31345219|PMID:31523374|PMID:31822006|PMID:32483926|PMID:33193692|PMID:33532864|PMID:36090483|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
1308136	Nphp1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 1 | ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis | ClinVar Annotator: match by term: nephronophthisis 1	PMID:10620543|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:24033266|PMID:24746959|PMID:25525159|PMID:25741868|PMID:27004562|PMID:27806791|PMID:28492532|PMID:30108342|PMID:30773290|PMID:31523374|PMID:31822006|PMID:32483926|PMID:33532864|PMID:9326933|PMID:9536098
1308136	Nphp1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISS	RGD:1317735	D	RGD:13592920	20230718	MouseDO		OMIM:256100	
1308136	Nphp1	nephrocystin 1	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1317734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:25741868|PMID:28492532
1308136	Nphp1	nephrocystin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308136	Nphp1	nephrocystin 1	gene	DOID:1115	sarcoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308136	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:11065524|PMID:17855640	20160929	RGD		DNA:deletions, nonsense mutations:cds:multiple	
1308136	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30773290|PMID:8852662|PMID:9326933|PMID:9536098
1308136	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30773290|PMID:8852662|PMID:9326933|PMID:9536098
1308136	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098
1308136	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098
1308136	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17409309|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28002029|PMID:28492532|PMID:28559085|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31822006|PMID:32173348|PMID:32483926|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
1308136	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17409309|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28002029|PMID:28492532|PMID:28559085|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31345219|PMID:31523374|PMID:31822006|PMID:32173348|PMID:32483926|PMID:33193692|PMID:36090483|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
1308136	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27004562|PMID:27806791|PMID:28002029|PMID:28492532|PMID:30108342|PMID:31345219|PMID:31523374|PMID:32173348|PMID:32483926|PMID:33046855|PMID:35858853|PMID:36090483|PMID:37230223|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
1308136	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27004562|PMID:27806791|PMID:28002029|PMID:28492532|PMID:30108342|PMID:31345219|PMID:31523374|PMID:32173348|PMID:32483926|PMID:33046855|PMID:35858853|PMID:36090483|PMID:37230223|PMID:8852662|PMID:9536098
1308136	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27004562|PMID:27806791|PMID:28002029|PMID:28492532|PMID:30108342|PMID:31345219|PMID:31523374|PMID:32173348|PMID:32483926|PMID:35858853|PMID:36090483|PMID:37230223|PMID:8852662|PMID:9536098
1308136	Nphp1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27004562|PMID:27806791|PMID:28002029|PMID:28492532|PMID:30108342|PMID:31523374|PMID:32173348|PMID:32483926|PMID:35858853|PMID:36090483|PMID:37230223|PMID:8852662|PMID:9536098
1308136	Nphp1	nephrocystin 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28492532
1308136	Nphp1	nephrocystin 1	gene	DOID:1324	lung cancer		ISO	RGD:1317734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1308136	Nphp1	nephrocystin 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1317734	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:10839884|PMID:15138899|PMID:25741868|PMID:28492532
1308136	Nphp1	nephrocystin 1	gene	DOID:1826	epilepsy		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28492532
1308136	Nphp1	nephrocystin 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1317734	D	RGD:11352646|PMID:24746959	20160929	RGD			
1308136	Nphp1	nephrocystin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1308136	Nphp1	nephrocystin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1308136	Nphp1	nephrocystin 1	gene	DOID:557	kidney disease		ISO	RGD:1317734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:25741868|PMID:28492532
1308136	Nphp1	nephrocystin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308136	Nphp1	nephrocystin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308136	Nphp1	nephrocystin 1	gene	DOID:630	genetic disease		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308136	Nphp1	nephrocystin 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308136	Nphp1	nephrocystin 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28492532
1308136	Nphp1	nephrocystin 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10620543|PMID:10839884|PMID:15138899|PMID:20434703|PMID:21258817|PMID:21658830|PMID:24746959|PMID:25126106|PMID:25401970|PMID:25741868|PMID:26037636|PMID:26092869|PMID:26359340|PMID:26477546|PMID:27491411|PMID:27788217|PMID:28002029|PMID:28041643|PMID:2825423|PMID:28347285|PMID:28492532|PMID:28509138|PMID:29555955|PMID:29654215|PMID:29974258|PMID:30847201|PMID:31402777|PMID:32306954|PMID:33083013|PMID:33306870|PMID:33512896|PMID:33597717|PMID:34013113|PMID:34059960|PMID:34153329|PMID:34246230|PMID:34295353|PMID:35140360|PMID:35368817|PMID:37203120|PMID:8852662
1308136	Nphp1	nephrocystin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308136	Nphp1	nephrocystin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1308136	Nphp1	nephrocystin 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28492532
1308136	Nphp1	nephrocystin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1308137	Gmnn	geminin, DNA replication inhibitor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308137	Gmnn	geminin, DNA replication inhibitor	gene	DOID:0060058	lymphoma		ISO	RGD:1317736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308137	Gmnn	geminin, DNA replication inhibitor	gene	DOID:0060306	Meier-Gorlin syndrome		ISO	RGD:1317736	D	RGD:11554173	20190430	CTD		CTD Direct Evidence: marker/mechanism	
1308137	Gmnn	geminin, DNA replication inhibitor	gene	DOID:0080517	Meier-Gorlin syndrome 6		ISO	RGD:1317736	D	RGD:7240710	20190424	OMIM			
1308137	Gmnn	geminin, DNA replication inhibitor	gene	DOID:0080517	Meier-Gorlin syndrome 6		ISO	RGD:1317736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GMNN-related condition | ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 6 | ClinVar Annotator: match by term: Meier-Gorlin syndrome 6	PMID:25741868|PMID:26637980|PMID:28492532
1308137	Gmnn	geminin, DNA replication inhibitor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308137	Gmnn	geminin, DNA replication inhibitor	gene	DOID:3070	high grade glioma		ISO	RGD:1317736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308137	Gmnn	geminin, DNA replication inhibitor	gene	DOID:3275	thymoma		ISO	RGD:1317736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308137	Gmnn	geminin, DNA replication inhibitor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308137	Gmnn	geminin, DNA replication inhibitor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308137	Gmnn	geminin, DNA replication inhibitor	gene	DOID:630	genetic disease		ISO	RGD:1317736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308137	Gmnn	geminin, DNA replication inhibitor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317736	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308137	Gmnn	geminin, DNA replication inhibitor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1308138	Zpld1	zona pellucida-like domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308138	Zpld1	zona pellucida-like domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606973	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308138	Zpld1	zona pellucida-like domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1606973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308138	Zpld1	zona pellucida-like domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308139	Ncbp3	nuclear cap binding subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308139	Ncbp3	nuclear cap binding subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1604808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308139	Ncbp3	nuclear cap binding subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308139	Ncbp3	nuclear cap binding subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308139	Ncbp3	nuclear cap binding subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308139	Ncbp3	nuclear cap binding subunit 3	gene	DOID:9003566	Mesothelioma		ISO	RGD:1604808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1308141	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1602080	D	RGD:11554173	20231003	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308141	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:0110625	primary ciliary dyskinesia 20		ISO	RGD:1602080	D	RGD:7240710	20140911	OMIM			
1308141	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:0110625	primary ciliary dyskinesia 20		ISO	RGD:1602080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 20 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: ODAD1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 20	PMID:16199547|PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:25802884|PMID:27637300|PMID:28492532|PMID:30067075|PMID:30291279|PMID:32111882|PMID:33577779|PMID:33715250|PMID:34134972|PMID:9536098
1308141	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1602080	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	PMID:25741868|PMID:28492532
1308141	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1602080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308141	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308141	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308141	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308141	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1602080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:28492532
1308141	Odad1	outer dynein arm docking complex subunit 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1602080	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:23261302|PMID:23261303|PMID:25640679|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30067075|PMID:30291279|PMID:31213628|PMID:33715250|PMID:9536098
1308142	Chst1	carbohydrate sulfotransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308142	Chst1	carbohydrate sulfotransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1317743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308142	Chst1	carbohydrate sulfotransferase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308142	Chst1	carbohydrate sulfotransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308142	Chst1	carbohydrate sulfotransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1317746	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27588471
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:10534	stomach cancer		ISO	RGD:1317746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:1059	intellectual disability		ISO	RGD:1317746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1317746	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27588471
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1317747	D	RGD:153323314|PMID:27588471	20220812	RGD			
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1317746	D	RGD:151708716|PMID:23374247	20220812	RGD		mRNA,protein:increased expression:lung (human)	
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1317746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1317746	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27588471
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1317746	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27588471
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:9008582	Developmental Disease		ISO	RGD:1317746	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: developmental disorder	
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308144	Ergic3	ERGIC and golgi 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308145	Phf13	PHD finger protein 13	gene	DOID:10534	stomach cancer		ISO	RGD:1317748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308145	Phf13	PHD finger protein 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308145	Phf13	PHD finger protein 13	gene	DOID:1909	melanoma		ISO	RGD:1317748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308145	Phf13	PHD finger protein 13	gene	DOID:4362	cervical cancer		ISO	RGD:1317748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308145	Phf13	PHD finger protein 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1317750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy	PMID:25741868|PMID:28492532
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:0060581	Noonan syndrome 3		ISO	RGD:1317750	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 3	PMID:25741868|PMID:28492532
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:0080212	polycystic kidney disease 4		ISO	RGD:1317750	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE	PMID:12110947|PMID:18414213|PMID:18929575|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:34008892
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:0080690	RASopathy		ISO	RGD:1317750	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:17576681|PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26519477|PMID:27466182|PMID:28074886|PMID:28166811|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:34008892|PMID:9536098
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:0080690	RASopathy		ISO	RGD:1317750	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:17576681|PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28074886|PMID:28166811|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:34008892|PMID:9536098
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:0080690	RASopathy		ISO	RGD:1317750	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies	PMID:17576681|PMID:19684605|PMID:22670144|PMID:24033266|PMID:25137548|PMID:25741868|PMID:27763634|PMID:28492532|PMID:29907801|PMID:30348783|PMID:30417923|PMID:35348676|PMID:35831509|PMID:9536098
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:0080691	Noonan syndrome-like disorder with loose anagen hair		ISO	RGD:1317750	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair	PMID:22670144|PMID:25137548|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30348783
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:0080692	Noonan syndrome-like disorder with loose anagen hair 1		ISO	RGD:1317750	D	RGD:11071098|PMID:23918763	20230111	RGD		Noonan syndrome-like disorder with loose anagen hair 1;	
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:0080692	Noonan syndrome-like disorder with loose anagen hair 1		ISO	RGD:1317750	D	RGD:11071178|PMID:20882035	20230111	RGD		DNA:mutation:cds:c.4A>G (p.S2G)(human)	
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:0080692	Noonan syndrome-like disorder with loose anagen hair 1		ISO	RGD:1317750	D	RGD:155804265|PMID:35348676	20230112	RGD		DNA:missense mutations:cds:multiple (human)	
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:0080692	Noonan syndrome-like disorder with loose anagen hair 1		ISO	RGD:1317750	D	RGD:7240710	20130221	OMIM			
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:0080692	Noonan syndrome-like disorder with loose anagen hair 1		ISO	RGD:1317750	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MAZZANTI SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition	PMID:17576681|PMID:19684605|PMID:22670144|PMID:24033266|PMID:25137548|PMID:25741868|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:30417923|PMID:35348676|PMID:35831509|PMID:9536098
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:1059	intellectual disability		ISO	RGD:1317750	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:10629	microphthalmia		ISO	RGD:1317750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:10908	hydrocephalus		ISO	RGD:1317750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1317750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:12270	coloboma		ISO	RGD:1317750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorioretinal coloboma	
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:13620	patent foramen ovale		ISO	RGD:1317750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:22670144|PMID:25137548|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30348783
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:1826	epilepsy		ISO	RGD:1317750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1317750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:1929	supravalvular aortic stenosis		ISO	RGD:1317750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Supravalvar aortic stenosis	PMID:22670144|PMID:25137548|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30348783
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:3310	atopic dermatitis		ISO	RGD:1317750	D	RGD:9068941	20230112	RGD		associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human)	PMID:20882035|REF_RGD_ID:11071178
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:3490	Noonan syndrome		ISO	RGD:1317750	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19684605
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:3490	Noonan syndrome		ISO	RGD:1317750	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Noonan syndrome	PMID:19684605|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30417923|PMID:35831509
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:421	hair disease		ISO	RGD:1317750	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19684605
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:483	cavernous hemangioma		ISO	RGD:1317750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cavernous hemangioma	PMID:22670144|PMID:25137548|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30348783
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1317750	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:22670144|PMID:25137548|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30348783
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:9003104	Intracranial Hemorrhages		IEP		D	RGD:155804268|PMID:34368865	20230112	RGD		mRNA:decreased expression:brain:	
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1317750	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22670144|PMID:25137548|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30348783
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1317750	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:22670144|PMID:25137548|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30348783
1308146	Shoc2	SHOC2 leucine-rich repeat scaffold protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1317750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308149	Zcchc10	zinc finger CCHC-type containing 10	gene	DOID:1324	lung cancer		ISO	RGD:1317755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308149	Zcchc10	zinc finger CCHC-type containing 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317755	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308149	Zcchc10	zinc finger CCHC-type containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308149	Zcchc10	zinc finger CCHC-type containing 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308149	Zcchc10	zinc finger CCHC-type containing 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308150	Zfp691	zinc finger protein 691	gene	DOID:5041	esophageal cancer		ISO	RGD:1603045	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308151	Cfap52	cilia and flagella associated protein 52	gene	DOID:0051024	visceral heterotaxy 10		ISO	RGD:1348671	D	RGD:7240710	20211110	OMIM			
1308151	Cfap52	cilia and flagella associated protein 52	gene	DOID:0051024	visceral heterotaxy 10		ISO	RGD:1348671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CFAP52-related condition | ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY | ClinVar Annotator: match by term: Heterotaxy, visceral, 10, autosomal, with male infertility	PMID:25741868|PMID:28492532
1308151	Cfap52	cilia and flagella associated protein 52	gene	DOID:1324	lung cancer		ISO	RGD:1348671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308151	Cfap52	cilia and flagella associated protein 52	gene	DOID:4362	cervical cancer		ISO	RGD:1348671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308151	Cfap52	cilia and flagella associated protein 52	gene	DOID:5041	esophageal cancer		ISO	RGD:1348671	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308151	Cfap52	cilia and flagella associated protein 52	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308151	Cfap52	cilia and flagella associated protein 52	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1348671	D	RGD:8554872	20250204	ClinVar		ClinVar Annotator: match by term: Situs inversus	PMID:16199547|PMID:25469542|PMID:25741868|PMID:28492532|PMID:33139725
1308151	Cfap52	cilia and flagella associated protein 52	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308151	Cfap52	cilia and flagella associated protein 52	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308151	Cfap52	cilia and flagella associated protein 52	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308152	Creb3l3	cAMP responsive element binding protein 3-like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1317760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308152	Creb3l3	cAMP responsive element binding protein 3-like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308152	Creb3l3	cAMP responsive element binding protein 3-like 3	gene	DOID:9003618	HYPERTRIGLYCERIDEMIA 2		ISO	RGD:1317760	D	RGD:7240710	20210818	OMIM			
1308152	Creb3l3	cAMP responsive element binding protein 3-like 3	gene	DOID:9003618	HYPERTRIGLYCERIDEMIA 2		ISO	RGD:1317760	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CREB3L3-related condition | ClinVar Annotator: match by term: HYPERTRIGLYCERIDEMIA 2 | ClinVar Annotator: match by term: Hypertriglyceridemia 2	PMID:21666694|PMID:25741868|PMID:26427795|PMID:26764160|PMID:28492532|PMID:32041611|PMID:32580631|PMID:36325899
1308153	Gins3	GINS complex subunit 3	gene	DOID:0051069	Meier-Gorlin syndrome 9		ISO	RGD:1604313	D	RGD:7240710	20260311	OMIM			
1308153	Gins3	GINS complex subunit 3	gene	DOID:0051069	Meier-Gorlin syndrome 9		ISO	RGD:1604313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 9	
1308153	Gins3	GINS complex subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1604313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308153	Gins3	GINS complex subunit 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308153	Gins3	GINS complex subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308153	Gins3	GINS complex subunit 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308153	Gins3	GINS complex subunit 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1604313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308154	Xxylt1	xyloside xylosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308154	Xxylt1	xyloside xylosyltransferase 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1345440	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1308154	Xxylt1	xyloside xylosyltransferase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1345440	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308154	Xxylt1	xyloside xylosyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308154	Xxylt1	xyloside xylosyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308154	Xxylt1	xyloside xylosyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308154	Xxylt1	xyloside xylosyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308154	Xxylt1	xyloside xylosyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308155	Meltf	melanotransferrin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308155	Meltf	melanotransferrin	gene	DOID:1115	sarcoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308155	Meltf	melanotransferrin	gene	DOID:1324	lung cancer		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308155	Meltf	melanotransferrin	gene	DOID:1909	melanoma		ISO	RGD:1317764	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:16704991
1308155	Meltf	melanotransferrin	gene	DOID:1909	melanoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308155	Meltf	melanotransferrin	gene	DOID:3275	thymoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308155	Meltf	melanotransferrin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308155	Meltf	melanotransferrin	gene	DOID:4362	cervical cancer		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308155	Meltf	melanotransferrin	gene	DOID:5041	esophageal cancer		ISO	RGD:1317764	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308155	Meltf	melanotransferrin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308155	Meltf	melanotransferrin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308155	Meltf	melanotransferrin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308155	Meltf	melanotransferrin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308155	Meltf	melanotransferrin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308155	Meltf	melanotransferrin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308155	Meltf	melanotransferrin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308157	Cul1	cullin 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1317768	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
1308157	Cul1	cullin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308157	Cul1	cullin 1	gene	DOID:1115	sarcoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308157	Cul1	cullin 1	gene	DOID:1909	melanoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308157	Cul1	cullin 1	gene	DOID:3275	thymoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308157	Cul1	cullin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308157	Cul1	cullin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308157	Cul1	cullin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317768	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308157	Cul1	cullin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308157	Cul1	cullin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308157	Cul1	cullin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308157	Cul1	cullin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308157	Cul1	cullin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308157	Cul1	cullin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308158	Nabp2	nucleic acid binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308158	Nabp2	nucleic acid binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1601970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308158	Nabp2	nucleic acid binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1601970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308158	Nabp2	nucleic acid binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308158	Nabp2	nucleic acid binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308158	Nabp2	nucleic acid binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308158	Nabp2	nucleic acid binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308159	Lnx1	ligand of numb-protein X 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308159	Lnx1	ligand of numb-protein X 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308159	Lnx1	ligand of numb-protein X 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308159	Lnx1	ligand of numb-protein X 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308159	Lnx1	ligand of numb-protein X 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308159	Lnx1	ligand of numb-protein X 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317771	D	RGD:8554872	20190409	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:26614431
1308159	Lnx1	ligand of numb-protein X 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308159	Lnx1	ligand of numb-protein X 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308159	Lnx1	ligand of numb-protein X 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308160	Ccdc178	coiled-coil domain containing 178	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308160	Ccdc178	coiled-coil domain containing 178	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308160	Ccdc178	coiled-coil domain containing 178	gene	DOID:10534	stomach cancer		ISO	RGD:1317773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308160	Ccdc178	coiled-coil domain containing 178	gene	DOID:1115	sarcoma		ISO	RGD:1317773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308160	Ccdc178	coiled-coil domain containing 178	gene	DOID:1909	melanoma		ISO	RGD:1317773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308160	Ccdc178	coiled-coil domain containing 178	gene	DOID:5041	esophageal cancer		ISO	RGD:1317773	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308160	Ccdc178	coiled-coil domain containing 178	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308161	Mrpl55	mitochondrial ribosomal protein L55	gene	DOID:10534	stomach cancer		ISO	RGD:1317775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308161	Mrpl55	mitochondrial ribosomal protein L55	gene	DOID:1115	sarcoma		ISO	RGD:1317775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308161	Mrpl55	mitochondrial ribosomal protein L55	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308161	Mrpl55	mitochondrial ribosomal protein L55	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308161	Mrpl55	mitochondrial ribosomal protein L55	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0060879	primary hypomagnesemia		ISO	RGD:1317777	D	RGD:8554872	20210413	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia	
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0060884	renal hypomagnesemia 6		ISO	RGD:1317777	D	RGD:7240710	20140911	OMIM			
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0060884	renal hypomagnesemia 6		ISO	RGD:1317777	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal hypomagnesemia 6	PMID:24699222|PMID:25741868|PMID:28492532|PMID:34604137
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:1059	intellectual disability		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:11832	visual epilepsy		ISO	RGD:1317777	D	RGD:11554173	20260106	CTD		CTD Direct Evidence: marker/mechanism	PMID:23027747
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:1909	melanoma		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:557	kidney disease		ISO	RGD:1317777	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23027747
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:630	genetic disease		ISO	RGD:1317777	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1317777	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23027747
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317777	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9005063	HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1		ISO	RGD:1317777	D	RGD:7240710	20170503	OMIM			
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9005063	HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1		ISO	RGD:1317777	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 1	PMID:24699222|PMID:25741868|PMID:28492532|PMID:33568487|PMID:34604137
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308162	Cnnm2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9008449	Tetany		ISO	RGD:1317777	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23027747
1308163	Golga5	golgin A5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308163	Golga5	golgin A5	gene	DOID:0060058	lymphoma		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308163	Golga5	golgin A5	gene	DOID:10534	stomach cancer		ISO	RGD:1317779	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308163	Golga5	golgin A5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308163	Golga5	golgin A5	gene	DOID:1909	melanoma		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308163	Golga5	golgin A5	gene	DOID:3070	high grade glioma		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308163	Golga5	golgin A5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308163	Golga5	golgin A5	gene	DOID:4362	cervical cancer		ISO	RGD:1317779	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308163	Golga5	golgin A5	gene	DOID:5041	esophageal cancer		ISO	RGD:1317779	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308163	Golga5	golgin A5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308163	Golga5	golgin A5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308163	Golga5	golgin A5	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1317779	D	RGD:1599259|PMID:9443391	20070122	RGD		reciprocal translocation resulting in fusion of GOLGA5 with the RET oncogene found in radioactivity-induced thyroid carcinomas	
1308163	Golga5	golgin A5	gene	DOID:9256	colorectal cancer		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606589	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:1073	renal hypertension		ISO	RGD:1606589	D	RGD:7243143|PMID:20495177	20130508	RGD			
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1606589	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Susceptibility to chronic obstructive pulmonary disease	
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:557	kidney disease		ISO	RGD:1606589	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18769365
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1606589	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27736846
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606589	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:783	end stage renal disease		ISO	RGD:1606589	D	RGD:7243146|PMID:18769365	20130508	RGD		DNA:polymorphisms: :	
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:863	nervous system disease		ISO	RGD:1606589	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21245421
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:1606589	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15365880
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:9002235	Rhabdomyolysis, Cerivastatin-Induced		ISO	RGD:1606589	D	RGD:7240710	20200923	OMIM			
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:9002235	Rhabdomyolysis, Cerivastatin-Induced		ISO	RGD:1606589	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYP2C8-related condition | ClinVar Annotator: match by term: DRUG METABOLISM, ALTERED, CYP2C8-RELATED	PMID:25741868
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:9004289	Drug-Induced Leukopenia	susceptibility	ISO	RGD:1606589	D	RGD:11353800|PMID:21702053	20160722	RGD		associated with Ovarian Neoplasms: DNA:polymorphism: :	
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:9004486	Drug-induced Neutropenia	susceptibility	ISO	RGD:1606589	D	RGD:11353800|PMID:21702053	20160722	RGD		associated with Ovarian Neoplasms: DNA:polymorphism: :	
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1606589	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27736846
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308166	Cyp2c79	cytochrome P450, family 2, subfamily c, polypeptide 79	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1606589	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:22674224
1308168	Rnf213	ring finger protein 213	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308168	Rnf213	ring finger protein 213	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308168	Rnf213	ring finger protein 213	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1351712	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Midaortic syndrome	PMID:28492532|PMID:29483232
1308168	Rnf213	ring finger protein 213	gene	DOID:10534	stomach cancer		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308168	Rnf213	ring finger protein 213	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spherocytosis	PMID:25741868
1308168	Rnf213	ring finger protein 213	gene	DOID:1324	lung cancer		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308168	Rnf213	ring finger protein 213	gene	DOID:1909	melanoma		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308168	Rnf213	ring finger protein 213	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308168	Rnf213	ring finger protein 213	gene	DOID:255	hemangioma		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	
1308168	Rnf213	ring finger protein 213	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308168	Rnf213	ring finger protein 213	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308168	Rnf213	ring finger protein 213	gene	DOID:4362	cervical cancer		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308168	Rnf213	ring finger protein 213	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308168	Rnf213	ring finger protein 213	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1308168	Rnf213	ring finger protein 213	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308168	Rnf213	ring finger protein 213	gene	DOID:865	vasculitis		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868
1308168	Rnf213	ring finger protein 213	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intracranial hemorrhage	PMID:25741868
1308168	Rnf213	ring finger protein 213	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive muscle weakness	PMID:25741868
1308168	Rnf213	ring finger protein 213	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308168	Rnf213	ring finger protein 213	gene	DOID:9007536	Moyamoya Disease 2		ISO	RGD:1351712	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	
1308168	Rnf213	ring finger protein 213	gene	DOID:9007536	Moyamoya Disease 2		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moyamoya disease 2 | ClinVar Annotator: match by term: RNF213-related condition	PMID:25278557|PMID:25741868|PMID:25964206|PMID:26198278|PMID:26662949|PMID:28492532|PMID:30922903|PMID:30925911|PMID:32573437|PMID:32686731|PMID:35135845|PMID:35605621|PMID:37012328|PMID:37269436|PMID:37399508|PMID:37924258
1308168	Rnf213	ring finger protein 213	gene	DOID:9007536	Moyamoya Disease 2	susceptibility	ISO	RGD:1351712	D	RGD:7240710	20190502	OMIM			
1308168	Rnf213	ring finger protein 213	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308169	Ppp1r7	protein phosphatase 1, regulatory subunit 7	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1308169	Ppp1r7	protein phosphatase 1, regulatory subunit 7	gene	DOID:10534	stomach cancer		ISO	RGD:1317789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308169	Ppp1r7	protein phosphatase 1, regulatory subunit 7	gene	DOID:1324	lung cancer		ISO	RGD:1317789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308169	Ppp1r7	protein phosphatase 1, regulatory subunit 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308169	Ppp1r7	protein phosphatase 1, regulatory subunit 7	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1308169	Ppp1r7	protein phosphatase 1, regulatory subunit 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308169	Ppp1r7	protein phosphatase 1, regulatory subunit 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308169	Ppp1r7	protein phosphatase 1, regulatory subunit 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308170	Cd180	CD180 molecule	gene	DOID:0080600	COVID-19		ISO	RGD:1317791	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308170	Cd180	CD180 molecule	gene	DOID:10534	stomach cancer		ISO	RGD:1317791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308170	Cd180	CD180 molecule	gene	DOID:1115	sarcoma		ISO	RGD:1317791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308170	Cd180	CD180 molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1317791	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308170	Cd180	CD180 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308170	Cd180	CD180 molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308171	Ogn	osteoglycin	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1317793	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005
1308172	Ubtd1	ubiquitin domain containing 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308172	Ubtd1	ubiquitin domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308173	Dmrta2	DMRT-like family A2	gene	DOID:4362	cervical cancer		ISO	RGD:1343593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308173	Dmrta2	DMRT-like family A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308174	Fign	fidgetin, microtubule severing factor	gene	DOID:1909	melanoma		ISO	RGD:1317798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308174	Fign	fidgetin, microtubule severing factor	gene	DOID:3275	thymoma		ISO	RGD:1317798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308174	Fign	fidgetin, microtubule severing factor	gene	DOID:9008582	Developmental Disease		ISO	RGD:1317798	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1308176	Ccnb2	cyclin B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308176	Ccnb2	cyclin B2	gene	DOID:0080600	COVID-19		ISO	RGD:1317801	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308176	Ccnb2	cyclin B2	gene	DOID:10534	stomach cancer		ISO	RGD:1317801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308176	Ccnb2	cyclin B2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308176	Ccnb2	cyclin B2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308176	Ccnb2	cyclin B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308176	Ccnb2	cyclin B2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317801	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308176	Ccnb2	cyclin B2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308176	Ccnb2	cyclin B2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317801	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308176	Ccnb2	cyclin B2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308177	Maml3	mastermind-like transcriptional coactivator 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308177	Maml3	mastermind-like transcriptional coactivator 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308177	Maml3	mastermind-like transcriptional coactivator 3	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1317803	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1308177	Maml3	mastermind-like transcriptional coactivator 3	gene	DOID:0080799	sinonasal undifferentiated carcinoma		ISO	RGD:1317803	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24859338
1308177	Maml3	mastermind-like transcriptional coactivator 3	gene	DOID:1115	sarcoma		ISO	RGD:1317803	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24859338
1308177	Maml3	mastermind-like transcriptional coactivator 3	gene	DOID:1115	sarcoma		ISO	RGD:1317803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308177	Maml3	mastermind-like transcriptional coactivator 3	gene	DOID:1682	congenital heart disease		ISO	RGD:1317803	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23708190
1308177	Maml3	mastermind-like transcriptional coactivator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308177	Maml3	mastermind-like transcriptional coactivator 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1317803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308177	Maml3	mastermind-like transcriptional coactivator 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308178	Sgsm1	small G protein signaling modulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308178	Sgsm1	small G protein signaling modulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308178	Sgsm1	small G protein signaling modulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308178	Sgsm1	small G protein signaling modulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308178	Sgsm1	small G protein signaling modulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308178	Sgsm1	small G protein signaling modulator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308178	Sgsm1	small G protein signaling modulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308178	Sgsm1	small G protein signaling modulator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308178	Sgsm1	small G protein signaling modulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308178	Sgsm1	small G protein signaling modulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308181	Ctsf	cathepsin F	gene	DOID:0110727	neuronal ceroid lipofuscinosis 13		ISO	RGD:1317809	D	RGD:7240710	20140911	OMIM			
1308181	Ctsf	cathepsin F	gene	DOID:0110727	neuronal ceroid lipofuscinosis 13		ISO	RGD:1317809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE) | ClinVar Annotator: match by term: CTSF-related condition | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 13 | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 13, Kufs type | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 13	PMID:16199547|PMID:17576681|PMID:23297359|PMID:25274848|PMID:25741868|PMID:26467025|PMID:27524508|PMID:28492532|PMID:29120254|PMID:31345219|PMID:31692161|PMID:34269512|PMID:36435927|PMID:9536098
1308181	Ctsf	cathepsin F	gene	DOID:1324	lung cancer		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308181	Ctsf	cathepsin F	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:16199547|PMID:23297359|PMID:25274848|PMID:25741868|PMID:28492532|PMID:31345219|PMID:31692161|PMID:34269512
1308181	Ctsf	cathepsin F	gene	DOID:1909	melanoma		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308181	Ctsf	cathepsin F	gene	DOID:4362	cervical cancer		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308181	Ctsf	cathepsin F	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308181	Ctsf	cathepsin F	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308181	Ctsf	cathepsin F	gene	DOID:5041	esophageal cancer		ISO	RGD:1317809	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308181	Ctsf	cathepsin F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308181	Ctsf	cathepsin F	gene	DOID:630	genetic disease		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:23297359|PMID:25274848|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31345219|PMID:31692161|PMID:34269512
1308181	Ctsf	cathepsin F	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1308181	Ctsf	cathepsin F	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317809	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308181	Ctsf	cathepsin F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308181	Ctsf	cathepsin F	gene	DOID:9008582	Developmental Disease		ISO	RGD:1317809	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1317811	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:1324	lung cancer		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:1909	melanoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:3275	thymoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:1317811	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23525077
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317811	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1317811	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17942768
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308182	Elmo1	engulfment and cell motility 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308183	Usp31	ubiquitin specific peptidase 31	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308183	Usp31	ubiquitin specific peptidase 31	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317813	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1308183	Usp31	ubiquitin specific peptidase 31	gene	DOID:10534	stomach cancer		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308183	Usp31	ubiquitin specific peptidase 31	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308183	Usp31	ubiquitin specific peptidase 31	gene	DOID:1324	lung cancer		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308183	Usp31	ubiquitin specific peptidase 31	gene	DOID:1909	melanoma		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308183	Usp31	ubiquitin specific peptidase 31	gene	DOID:4362	cervical cancer		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308183	Usp31	ubiquitin specific peptidase 31	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308183	Usp31	ubiquitin specific peptidase 31	gene	DOID:5041	esophageal cancer		ISO	RGD:1317813	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308183	Usp31	ubiquitin specific peptidase 31	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308183	Usp31	ubiquitin specific peptidase 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308183	Usp31	ubiquitin specific peptidase 31	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308183	Usp31	ubiquitin specific peptidase 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308183	Usp31	ubiquitin specific peptidase 31	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308184	Ankle1	ankyrin repeat and LEM domain containing 1	gene	DOID:0080600	COVID-19		ISO	RGD:1605878	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308184	Ankle1	ankyrin repeat and LEM domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308184	Ankle1	ankyrin repeat and LEM domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308184	Ankle1	ankyrin repeat and LEM domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308184	Ankle1	ankyrin repeat and LEM domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605878	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308184	Ankle1	ankyrin repeat and LEM domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308185	Yipf3	Yip1 domain family, member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308185	Yipf3	Yip1 domain family, member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1317816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308185	Yipf3	Yip1 domain family, member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308185	Yipf3	Yip1 domain family, member 3	gene	DOID:1909	melanoma		ISO	RGD:1317816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308185	Yipf3	Yip1 domain family, member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1317816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308185	Yipf3	Yip1 domain family, member 3	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1317816	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
1308185	Yipf3	Yip1 domain family, member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1317816	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308185	Yipf3	Yip1 domain family, member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308185	Yipf3	Yip1 domain family, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308185	Yipf3	Yip1 domain family, member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308185	Yipf3	Yip1 domain family, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308185	Yipf3	Yip1 domain family, member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308187	Mob3a	MOB kinase activator 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308187	Mob3a	MOB kinase activator 3A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308187	Mob3a	MOB kinase activator 3A	gene	DOID:1324	lung cancer		ISO	RGD:1317819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308187	Mob3a	MOB kinase activator 3A	gene	DOID:3275	thymoma		ISO	RGD:1317819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308187	Mob3a	MOB kinase activator 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1317819	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308187	Mob3a	MOB kinase activator 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308187	Mob3a	MOB kinase activator 3A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317819	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308187	Mob3a	MOB kinase activator 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308187	Mob3a	MOB kinase activator 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308188	Upp2	uridine phosphorylase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308188	Upp2	uridine phosphorylase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317821	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21151189
1308188	Upp2	uridine phosphorylase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308190	Cul3	cullin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308190	Cul3	cullin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308190	Cul3	cullin 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317824	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders	PMID:17576681|PMID:22914163|PMID:25741868|PMID:28492532|PMID:32341456|PMID:9536098
1308190	Cul3	cullin 3	gene	DOID:0060855	autosomal dominant pseudohypoaldosteronism type 1		ISO	RGD:1317824	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant	PMID:25741868
1308190	Cul3	cullin 3	gene	DOID:0061147	neurodevelopmental disorder with or without autism or seizures		ISO	RGD:1317824	D	RGD:7240710	20220216	OMIM			
1308190	Cul3	cullin 3	gene	DOID:0061147	neurodevelopmental disorder with or without autism or seizures		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autism or seizures	PMID:17576681|PMID:22914163|PMID:25741868|PMID:28492532|PMID:29361671|PMID:31780330|PMID:32341456|PMID:33004838|PMID:9536098
1308190	Cul3	cullin 3	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1317824	D	RGD:8554872	20240625	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868|PMID:32341456
1308190	Cul3	cullin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308190	Cul3	cullin 3	gene	DOID:1059	intellectual disability		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:25741868|PMID:37398376
1308190	Cul3	cullin 3	gene	DOID:10907	microcephaly		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1308190	Cul3	cullin 3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28492532|PMID:32341456
1308190	Cul3	cullin 3	gene	DOID:1324	lung cancer		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1308190	Cul3	cullin 3	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:28492532|PMID:32341456
1308190	Cul3	cullin 3	gene	DOID:1909	melanoma		ISO	RGD:1317824	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1308190	Cul3	cullin 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308190	Cul3	cullin 3	gene	DOID:3275	thymoma		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308190	Cul3	cullin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308190	Cul3	cullin 3	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pseudohypoaldosteronism, type 2	PMID:22266938|PMID:25741868|PMID:29361671|PMID:34622103
1308190	Cul3	cullin 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308190	Cul3	cullin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1317824	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308190	Cul3	cullin 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308190	Cul3	cullin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308190	Cul3	cullin 3	gene	DOID:630	genetic disease		ISO	RGD:1317824	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32341456
1308190	Cul3	cullin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1308190	Cul3	cullin 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1317824	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1308190	Cul3	cullin 3	gene	DOID:9002890	Pseudohypoaldosteronism, Type IIA		ISO	RGD:1317824	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome	
1308190	Cul3	cullin 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317824	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1308190	Cul3	cullin 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317824	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308190	Cul3	cullin 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308190	Cul3	cullin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308190	Cul3	cullin 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1308190	Cul3	cullin 3	gene	DOID:9008350	NATURAL KILLER CELL ENTEROPATHY		ISO	RGD:1317824	D	RGD:8554872	20200121	ClinVar		ClinVar Annotator: match by term: Natural killer cell enteropathy	
1308190	Cul3	cullin 3	gene	DOID:9008890	Pseudohypoaldosteronism, Type IIE		ISO	RGD:1317824	D	RGD:7240710	20140911	OMIM			
1308190	Cul3	cullin 3	gene	DOID:9008890	Pseudohypoaldosteronism, Type IIE		ISO	RGD:1317824	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CUL3-related condition | ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2E	PMID:22266938|PMID:25741868|PMID:28492532|PMID:29361671|PMID:32341456|PMID:32619053|PMID:34622103
1308190	Cul3	cullin 3	gene	DOID:9834	hyperopia		ISO	RGD:1317824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:0110382	retinitis pigmentosa 48		ISO	RGD:1317826	D	RGD:7240710	20140911	OMIM			
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:0110382	retinitis pigmentosa 48		ISO	RGD:1317826	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 48 | ClinVar Annotator: match by term: Retinitis pigmentosa 48	PMID:15452722|PMID:25741868|PMID:28492532|PMID:33812995
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317826	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15452722
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317826	D	RGD:8547535|PMID:23701314	20140217	RGD			
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317826	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15452722|PMID:15505030|PMID:22025579|PMID:25741868|PMID:26161267|PMID:28492532
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317826	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15505030|PMID:22025579|PMID:25741868|PMID:28492532
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:28492532
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:1324	lung cancer		ISO	RGD:1317826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1317826	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25445212|PMID:28492532
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1317826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1317826	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1308191	Guca1b	guanylate cyclase activator 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308193	Slc9a8	solute carrier family 9 member A8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308193	Slc9a8	solute carrier family 9 member A8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308193	Slc9a8	solute carrier family 9 member A8	gene	DOID:10534	stomach cancer		ISO	RGD:1317829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308193	Slc9a8	solute carrier family 9 member A8	gene	DOID:1115	sarcoma		ISO	RGD:1317829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308193	Slc9a8	solute carrier family 9 member A8	gene	DOID:1307	dementia		ISO	RGD:1317829	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19234771
1308193	Slc9a8	solute carrier family 9 member A8	gene	DOID:1909	melanoma		ISO	RGD:1317829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308193	Slc9a8	solute carrier family 9 member A8	gene	DOID:4362	cervical cancer		ISO	RGD:1317829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308193	Slc9a8	solute carrier family 9 member A8	gene	DOID:5041	esophageal cancer		ISO	RGD:1317829	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308193	Slc9a8	solute carrier family 9 member A8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308193	Slc9a8	solute carrier family 9 member A8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308193	Slc9a8	solute carrier family 9 member A8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308193	Slc9a8	solute carrier family 9 member A8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308193	Slc9a8	solute carrier family 9 member A8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308194	Nanos1	nanos C2HC-type zinc finger 1	gene	DOID:0070171	spermatogenic failure 12		ISO	RGD:1317831	D	RGD:7240710	20140911	OMIM			
1308194	Nanos1	nanos C2HC-type zinc finger 1	gene	DOID:0070171	spermatogenic failure 12		ISO	RGD:1317831	D	RGD:8554872	20250821	ClinVar		ClinVar Annotator: match by term: NANOS1-related disorder | ClinVar Annotator: match by term: Spermatogenic failure 12	PMID:25741868|PMID:28492532
1308194	Nanos1	nanos C2HC-type zinc finger 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1317831	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
1308195	Slurp2	secreted Ly6/Plaur domain containing 2	gene	DOID:3390	palmoplantar keratosis		ISS	RGD:1317833	D	RGD:13592920	20180621	MouseDO			
1308196	Mrpl30	mitochondrial ribosomal protein L30	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308196	Mrpl30	mitochondrial ribosomal protein L30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308196	Mrpl30	mitochondrial ribosomal protein L30	gene	DOID:4362	cervical cancer		ISO	RGD:1317834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308196	Mrpl30	mitochondrial ribosomal protein L30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308196	Mrpl30	mitochondrial ribosomal protein L30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308196	Mrpl30	mitochondrial ribosomal protein L30	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308197	Dennd2c	DENN domain containing 2C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308197	Dennd2c	DENN domain containing 2C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308197	Dennd2c	DENN domain containing 2C	gene	DOID:1115	sarcoma		ISO	RGD:1604979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308197	Dennd2c	DENN domain containing 2C	gene	DOID:1324	lung cancer		ISO	RGD:1604979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308197	Dennd2c	DENN domain containing 2C	gene	DOID:1909	melanoma		ISO	RGD:1604979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308197	Dennd2c	DENN domain containing 2C	gene	DOID:3275	thymoma		ISO	RGD:1604979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308197	Dennd2c	DENN domain containing 2C	gene	DOID:5041	esophageal cancer		ISO	RGD:1604979	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308197	Dennd2c	DENN domain containing 2C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308197	Dennd2c	DENN domain containing 2C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308197	Dennd2c	DENN domain containing 2C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050741	alcohol dependence		IEP		D	RGD:401900733|PMID:33662520	20240831	RGD		associated with Sleep Deprivation;protein:increased expression:brain	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050741	alcohol dependence		IEP		D	RGD:401901600|PMID:19324071	20240831	RGD		protein:increased expression:nucleus accumbens (rat)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050741	alcohol dependence	treatment	IEP		D	RGD:401851075|PMID:20626732	20231030	RGD			
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050742	nicotine dependence		IEP		D	RGD:407571683|PMID:17333132	20240930	RGD		protein:increased expression:nucleus accumbens, dentate gyrus of hippocampal formation (rat)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050742	nicotine dependence		ISO	RGD:1317838	D	RGD:401900124|PMID:17468183	20240830	RGD			
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1317837	D	RGD:11535375|PMID:26581505	20220825	RGD		protein:increased expression:tongue (human)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0060001	withdrawal disorder		IEP		D	RGD:401900159|PMID:20438612	20231108	RGD		associated with morphine dependence;protein:increased expression:Brainstem (rat)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0080600	COVID-19		ISO	RGD:1317837	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:10937	impulse control disorder		ISO	RGD:1317837	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539927
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:11206	opioid abuse		IEP		D	RGD:401901180|PMID:30632799	20231130	RGD		protein:increased expression:Prefrontal Cortex, nucleus accumbens (rat)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1324	lung cancer		ISO	RGD:1317837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1561	cognitive disorder		ISO	RGD:1317837	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24067299
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1574	alcohol use disorder		ISO	RGD:1317838	D	RGD:401901184|PMID:9835277	20231130	RGD		protein:increased expression:brain (mouse)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1574	alcohol use disorder		ISO	RGD:1317838	D	RGD:401901287|PMID:27380261	20231208	RGD		protein:increased expression:dorsal striatum (mouse)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1574	alcohol use disorder	treatment	IEP		D	RGD:401851082|PMID:22792289	20231107	RGD			
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1596	depressive disorder		ISO	RGD:1317837	D	RGD:401851061|PMID:27494187	20231206	RGD		protein:decreased expression: hippocampus (human)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1826	epilepsy		ISO	RGD:1317837	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16391389
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2560	morphine dependence		IEP		D	RGD:401901281|PMID:33592274	20231208	RGD		associated with pregnancy complications; protein:increased expression:brain (rat)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2560	morphine dependence		IEP		D	RGD:401901600|PMID:19324071	20240831	RGD		associated with alcohol dependence; protein:increased expression:nucleus accumbens, caudate-putamen (rat)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2560	morphine dependence	ameliorates	IEP		D	RGD:401851068|PMID:23185589	20231030	RGD		protein:increased expression:brain (rat)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2560	morphine dependence	treatment	IDA		D	RGD:401851072|PMID:31442272	20240830	RGD		associated with acute stress disorder	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:1317838	D	RGD:401901284|PMID:30632088	20240831	RGD			
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:1317838	D	RGD:407571675|PMID:17331503	20240929	RGD			
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1317837	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:480	movement disease		ISO	RGD:1317837	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10600402
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:670	amphetamine abuse		IEP		D	RGD:401900735|PMID:31373119	20231130	RGD		protein:increased expression:brain (rat)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:670	amphetamine abuse		IEP		D	RGD:401901183|PMID:27672362	20231215	RGD		associated with stress related disorder;protein:increased expression:brain (rat)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:670	amphetamine abuse		ISO	RGD:1317838	D	RGD:401900303|PMID:28782589	20231117	RGD		protein:increased expression:ventral tegmental area, nucleus accumbens (mouse)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1317837	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317837	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:809	cocaine abuse		IEP		D	RGD:401900302|PMID:17572394	20231110	RGD		associated with alcohol dependence;protein:increased expression: caudate-putamen (rat)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:809	cocaine abuse		ISO	RGD:1317838	D	RGD:407446380|PMID:9294222	20240830	RGD			
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:1317837	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26411935
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9002735	alcohol withdrawal syndrome	disease_progression	ISO	RGD:1317838	D	RGD:401851085|PMID:24355551	20240830	RGD		protein:increased expression:primary motor cortex, secondary motor cortex, ventral tegmental area (mouse)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1317837	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1317837	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12657709|PMID:17898221|PMID:18539927|PMID:19331462
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1317837	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:26411935
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9008331	Tendon Injuries	treatment	IDA		D	RGD:10395300|PMID:23519232	20150901	RGD			
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:1317837	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17219962
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9008675	Dyskinesias		ISO	RGD:1317838	D	RGD:617301266|PMID:17055656	20250729	RGD			
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9973	substance dependence		ISO	RGD:1317837	D	RGD:401851061|PMID:27494187	20231206	RGD		protein:decreased expression: hippocampus (human)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence		IEP		D	RGD:401851063|PMID:25522720	20231030	RGD		protein:increased expression:Nucleus Accumbens, Caudate Putamen (rat)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence		IEP		D	RGD:401851078|PMID:23665060	20231030	RGD		protein:increased expression:Brain (rat)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence		IEP		D	RGD:401900126|PMID:20633205	20231207	RGD		mRNA,protein:increased expression:Nucleus Accumbens, Caudate Putamen (rat)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence		ISO	RGD:1317838	D	RGD:401901287|PMID:27380261	20231208	RGD		protein:increased expression:dorsal striatum, nucelus accumbens (mouse)	
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence	ameliorates	IEP		D	RGD:401851084|PMID:22403532	20231107	RGD			
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence	treatment	IEP		D	RGD:401900166|PMID:27664298	20231130	RGD			
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9976	heroin dependence	ameliorates	IDA		D	RGD:401901181|PMID:21362452	20231130	RGD			
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9976	heroin dependence	ameliorates	IDA		D	RGD:401901182|PMID:23062870	20231214	RGD			
1308198	Fosb	FosB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9976	heroin dependence	treatment	IEP		D	RGD:407571685|PMID:17165513	20240930	RGD			
1308199	Map4k2	mitogen activated protein kinase kinase kinase kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308199	Map4k2	mitogen activated protein kinase kinase kinase kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308199	Map4k2	mitogen activated protein kinase kinase kinase kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308199	Map4k2	mitogen activated protein kinase kinase kinase kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1317839	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308199	Map4k2	mitogen activated protein kinase kinase kinase kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308199	Map4k2	mitogen activated protein kinase kinase kinase kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308199	Map4k2	mitogen activated protein kinase kinase kinase kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308199	Map4k2	mitogen activated protein kinase kinase kinase kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308199	Map4k2	mitogen activated protein kinase kinase kinase kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317839	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308199	Map4k2	mitogen activated protein kinase kinase kinase kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308199	Map4k2	mitogen activated protein kinase kinase kinase kinase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308199	Map4k2	mitogen activated protein kinase kinase kinase kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308199	Map4k2	mitogen activated protein kinase kinase kinase kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308200	Pitpnm3	PITPNM family member 3	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1317841	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive	PMID:28492532
1308200	Pitpnm3	PITPNM family member 3	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1317841	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868|PMID:28492532
1308200	Pitpnm3	PITPNM family member 3	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1317841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868
1308200	Pitpnm3	PITPNM family member 3	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1317841	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
1308200	Pitpnm3	PITPNM family member 3	gene	DOID:0111010	cone-rod dystrophy 5		ISO	RGD:1317841	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308200	Pitpnm3	PITPNM family member 3	gene	DOID:0111010	cone-rod dystrophy 5		ISO	RGD:1317841	D	RGD:7240710	20130221	OMIM			
1308200	Pitpnm3	PITPNM family member 3	gene	DOID:0111010	cone-rod dystrophy 5		ISO	RGD:1317841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 5 | ClinVar Annotator: match by term: PITPNM3-related condition	PMID:25741868|PMID:28492532|PMID:32483926
1308200	Pitpnm3	PITPNM family member 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317841	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:28492532|PMID:30718709
1308200	Pitpnm3	PITPNM family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317841	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308200	Pitpnm3	PITPNM family member 3	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1308201	Frs2	fibroblast growth factor receptor substrate 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308201	Frs2	fibroblast growth factor receptor substrate 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308201	Frs2	fibroblast growth factor receptor substrate 2	gene	DOID:1115	sarcoma		ISO	RGD:1317842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308201	Frs2	fibroblast growth factor receptor substrate 2	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1317842	D	RGD:11352663|PMID:25900027	20160714	RGD			
1308201	Frs2	fibroblast growth factor receptor substrate 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317842	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308201	Frs2	fibroblast growth factor receptor substrate 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308202	Akna	AT-hook transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308202	Akna	AT-hook transcription factor	gene	DOID:10534	stomach cancer		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308202	Akna	AT-hook transcription factor	gene	DOID:1059	intellectual disability		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1308202	Akna	AT-hook transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308202	Akna	AT-hook transcription factor	gene	DOID:12849	autistic disorder		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1308202	Akna	AT-hook transcription factor	gene	DOID:1324	lung cancer		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308202	Akna	AT-hook transcription factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308202	Akna	AT-hook transcription factor	gene	DOID:3275	thymoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308202	Akna	AT-hook transcription factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308202	Akna	AT-hook transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308202	Akna	AT-hook transcription factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308202	Akna	AT-hook transcription factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1317844	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308202	Akna	AT-hook transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308202	Akna	AT-hook transcription factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308202	Akna	AT-hook transcription factor	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308202	Akna	AT-hook transcription factor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308202	Akna	AT-hook transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308202	Akna	AT-hook transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308202	Akna	AT-hook transcription factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308202	Akna	AT-hook transcription factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1317844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308203	Zfp647	zinc finger protein 647	gene	DOID:1909	melanoma		ISO	RGD:1349906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308203	Zfp647	zinc finger protein 647	gene	DOID:5041	esophageal cancer		ISO	RGD:1349906	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308203	Zfp647	zinc finger protein 647	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308203	Zfp647	zinc finger protein 647	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308203	Zfp647	zinc finger protein 647	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308203	Zfp647	zinc finger protein 647	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308204	Etnk1	ethanolamine kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308204	Etnk1	ethanolamine kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1308204	Etnk1	ethanolamine kinase 1	gene	DOID:3307	teratoma		ISO	RGD:1317846	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
1308204	Etnk1	ethanolamine kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308204	Etnk1	ethanolamine kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308204	Etnk1	ethanolamine kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308204	Etnk1	ethanolamine kinase 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1317846	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1308205	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317848	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308205	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:0060058	lymphoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308205	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:1115	sarcoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308205	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308205	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:3275	thymoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308205	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1317848	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308205	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308205	Pard6b	par-6 family cell polarity regulator beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1349519	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Parkinson disease, late-onset	PMID:25741868|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:0080726	Ehlers-Danlos syndrome classic type 2		ISO	RGD:1349519	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2	PMID:22366786|PMID:24594375|PMID:24920671|PMID:25741868|PMID:26371419|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:0110273	autosomal dominant limb-girdle muscular dystrophy		ISO	RGD:1349519	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: muscular dystrophy, limb-girdle, autosomal dominant	PMID:25741868|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:0110305	autosomal dominant limb-girdle muscular dystrophy type 1		ISO	RGD:1349519	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:0110305	autosomal dominant limb-girdle muscular dystrophy type 1		ISO	RGD:1349519	D	RGD:7240710	20130731	OMIM			
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:0110305	autosomal dominant limb-girdle muscular dystrophy type 1		ISO	RGD:1349519	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1E | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Muscular Dystrophy, Limb-Girdle, Type 1E | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 1	PMID:16199547|PMID:22366786|PMID:24033266|PMID:24594375|PMID:24920671|PMID:25741868|PMID:26205529|PMID:26338452|PMID:26371419|PMID:26467025|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1349519	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22366786
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:11830	myopia		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:12849	autistic disorder		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1349519	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EDS I	PMID:22366786|PMID:24594375|PMID:24920671|PMID:25741868|PMID:26371419|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:1596	depressive disorder		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:2030	anxiety disorder		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:2841	asthma		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:3070	high grade glioma		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:3312	bipolar disorder		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:630	genetic disease		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:7998	hyperthyroidism		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:9005077	Joint Instability		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:9005244	Vacuolar Neuromyopathy		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES	PMID:16199547|PMID:22366786|PMID:24033266|PMID:24594375|PMID:24920671|PMID:25741868|PMID:26371419|PMID:26467025|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1349519	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:9007736	Vertigo		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308207	Dnajb6	DnaJ heat shock protein family (Hsp40) member B6	gene	DOID:9834	hyperopia		ISO	RGD:1349519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1308208	Kctd6	potassium channel tetramerization domain containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308210	Abhd17c	abhydrolase domain containing 17C, depalmitoylase	gene	DOID:3275	thymoma		ISO	RGD:1603613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308210	Abhd17c	abhydrolase domain containing 17C, depalmitoylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308210	Abhd17c	abhydrolase domain containing 17C, depalmitoylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1308211	Klhdc1	kelch domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308211	Klhdc1	kelch domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308211	Klhdc1	kelch domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308211	Klhdc1	kelch domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308211	Klhdc1	kelch domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308211	Klhdc1	kelch domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308212	Wscd1	WSC domain sialate O sulfotransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308212	Wscd1	WSC domain sialate O sulfotransferase 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1603698	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1308212	Wscd1	WSC domain sialate O sulfotransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308212	Wscd1	WSC domain sialate O sulfotransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603698	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308212	Wscd1	WSC domain sialate O sulfotransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308212	Wscd1	WSC domain sialate O sulfotransferase 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1603698	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1308212	Wscd1	WSC domain sialate O sulfotransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308213	Pbx1	PBX homeobox 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308213	Pbx1	PBX homeobox 1	gene	DOID:0112359	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		ISO	RGD:1317860	D	RGD:155630607|PMID:29036646	20221025	RGD		DNA:missense mutations:multiple (human)	
1308213	Pbx1	PBX homeobox 1	gene	DOID:0112359	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		ISO	RGD:1317860	D	RGD:7240710	20190315	OMIM			
1308213	Pbx1	PBX homeobox 1	gene	DOID:0112359	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		ISO	RGD:1317860	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | ClinVar Annotator: match by term: PBX1-related condition | ClinVar Annotator: match by term: PBX1-related intellectual disability and pleiotropic developmental defects	PMID:25741868|PMID:28270404|PMID:28492532|PMID:28566479|PMID:29036646|PMID:29226118|PMID:29966037|PMID:32141698|PMID:33098248|PMID:35751431|PMID:36318887|PMID:36833200|PMID:37571997
1308213	Pbx1	PBX homeobox 1	gene	DOID:0112359	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		ISS	RGD:1552910	D	RGD:13592920	20230718	MouseDO		OMIM:617641	
1308213	Pbx1	PBX homeobox 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308213	Pbx1	PBX homeobox 1	gene	DOID:1115	sarcoma		ISO	RGD:1317860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308213	Pbx1	PBX homeobox 1	gene	DOID:1686	glaucoma		IEP		D	RGD:155630605|PMID:28990066	20221025	RGD		mRNA:increased expression:optic nerve head (rat)	
1308213	Pbx1	PBX homeobox 1	gene	DOID:1686	glaucoma		ISO	RGD:1317860	D	RGD:155630605|PMID:28990066	20221025	RGD		mRNA:increased expression:optic nerve head (human)	
1308213	Pbx1	PBX homeobox 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1317860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
1308213	Pbx1	PBX homeobox 1	gene	DOID:303	substance-related disorder		ISO	RGD:1317860	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1308213	Pbx1	PBX homeobox 1	gene	DOID:3454	brain infarction		IEP		D	RGD:155630606|PMID:12161747	20221025	RGD		protein:altered expression:brain (rat)	
1308213	Pbx1	PBX homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308213	Pbx1	PBX homeobox 1	gene	DOID:576	proteinuria		ISO	RGD:1317860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868
1308213	Pbx1	PBX homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1317860	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28566479|PMID:29036646|PMID:29555671|PMID:31625560|PMID:33677855|PMID:35751431
1308213	Pbx1	PBX homeobox 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308213	Pbx1	PBX homeobox 1	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:1317860	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:1967982|PMID:17244677
1308213	Pbx1	PBX homeobox 1	gene	DOID:9003752	Persistent Truncus Arteriosus		ISO	RGD:1552910	D	RGD:155630610|PMID:18723445	20221025	RGD			
1308213	Pbx1	PBX homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308213	Pbx1	PBX homeobox 1	gene	DOID:9008565	Congenital Heart Defects, Multiple Types		ISO	RGD:1552910	D	RGD:155630609|PMID:31625560	20221025	RGD			
1308214	Chst12	carbohydrate sulfotransferase 12	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317861	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308214	Chst12	carbohydrate sulfotransferase 12	gene	DOID:10763	hypertension		IEP		D	RGD:8693701|PMID:25001272	20210118	RGD		mRNA:decreased expression:renal cortex and medulla (rat)	
1308214	Chst12	carbohydrate sulfotransferase 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308214	Chst12	carbohydrate sulfotransferase 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308215	Tlcd3b	TLC domain containing 3B	gene	DOID:0081448	cone-rod dystrophy 22		ISO	RGD:1605610	D	RGD:7240710	20210929	OMIM			
1308215	Tlcd3b	TLC domain containing 3B	gene	DOID:0081448	cone-rod dystrophy 22		ISO	RGD:1605610	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 22	
1308215	Tlcd3b	TLC domain containing 3B	gene	DOID:0081448	cone-rod dystrophy 22		ISS	RGD:1332551	D	RGD:13592920	20250828	MouseDO		OMIM:619531	
1308215	Tlcd3b	TLC domain containing 3B	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1605610	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
1308215	Tlcd3b	TLC domain containing 3B	gene	DOID:1324	lung cancer		ISO	RGD:1605610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308215	Tlcd3b	TLC domain containing 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308216	Usp44	ubiquitin specific peptidase 44	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308216	Usp44	ubiquitin specific peptidase 44	gene	DOID:1115	sarcoma		ISO	RGD:1317864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308216	Usp44	ubiquitin specific peptidase 44	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308217	Veph1	ventricular zone expressed PH domain-containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308217	Veph1	ventricular zone expressed PH domain-containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308217	Veph1	ventricular zone expressed PH domain-containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308217	Veph1	ventricular zone expressed PH domain-containing 1	gene	DOID:1909	melanoma		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308217	Veph1	ventricular zone expressed PH domain-containing 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1353776	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
1308217	Veph1	ventricular zone expressed PH domain-containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308217	Veph1	ventricular zone expressed PH domain-containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308217	Veph1	ventricular zone expressed PH domain-containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308217	Veph1	ventricular zone expressed PH domain-containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308217	Veph1	ventricular zone expressed PH domain-containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308218	Ess2	ess-2 spliceosome associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308218	Ess2	ess-2 spliceosome associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308218	Ess2	ess-2 spliceosome associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308218	Ess2	ess-2 spliceosome associated protein	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1317866	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1308218	Ess2	ess-2 spliceosome associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308218	Ess2	ess-2 spliceosome associated protein	gene	DOID:1909	melanoma		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308218	Ess2	ess-2 spliceosome associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308218	Ess2	ess-2 spliceosome associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308218	Ess2	ess-2 spliceosome associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1604383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1604383	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADHD	
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:1324	lung cancer		ISO	RGD:1604383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:1909	melanoma		ISO	RGD:1604383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1604383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:3275	thymoma		ISO	RGD:1604383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1604383	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604383	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308221	Tbc1d9	TBC1 domain family member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308222	Lnx2	ligand of numb-protein X 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308222	Lnx2	ligand of numb-protein X 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1317872	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Attention Deficit Hyperactivity Disorder	PMID:25741868
1308222	Lnx2	ligand of numb-protein X 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317872	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308222	Lnx2	ligand of numb-protein X 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308222	Lnx2	ligand of numb-protein X 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308222	Lnx2	ligand of numb-protein X 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308223	Rad9b	RAD9 checkpoint clamp component B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308223	Rad9b	RAD9 checkpoint clamp component B	gene	DOID:0060058	lymphoma		ISO	RGD:1317874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308223	Rad9b	RAD9 checkpoint clamp component B	gene	DOID:0080074	neural tube defect		ISO	RGD:1317874	D	RGD:8554872	20191210	ClinVar		ClinVar Annotator: match by term: Neural tube defect	
1308223	Rad9b	RAD9 checkpoint clamp component B	gene	DOID:10534	stomach cancer		ISO	RGD:1317874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308223	Rad9b	RAD9 checkpoint clamp component B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308223	Rad9b	RAD9 checkpoint clamp component B	gene	DOID:5041	esophageal cancer		ISO	RGD:1317874	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308223	Rad9b	RAD9 checkpoint clamp component B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308223	Rad9b	RAD9 checkpoint clamp component B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308223	Rad9b	RAD9 checkpoint clamp component B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308223	Rad9b	RAD9 checkpoint clamp component B	gene	DOID:9256	colorectal cancer		ISO	RGD:1317874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308225	Gtf2h1	general transcription factor IIH subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308225	Gtf2h1	general transcription factor IIH subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308225	Gtf2h1	general transcription factor IIH subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1317878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308225	Gtf2h1	general transcription factor IIH subunit 1	gene	DOID:14228	oligospermia		ISO	RGD:1317878	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868
1308225	Gtf2h1	general transcription factor IIH subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308225	Gtf2h1	general transcription factor IIH subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308225	Gtf2h1	general transcription factor IIH subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317878	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308225	Gtf2h1	general transcription factor IIH subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308225	Gtf2h1	general transcription factor IIH subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308225	Gtf2h1	general transcription factor IIH subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308226	Lrguk	leucine-rich repeats and guanylate kinase domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603904	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308226	Lrguk	leucine-rich repeats and guanylate kinase domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308226	Lrguk	leucine-rich repeats and guanylate kinase domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1603904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308226	Lrguk	leucine-rich repeats and guanylate kinase domain containing	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308226	Lrguk	leucine-rich repeats and guanylate kinase domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1603904	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308226	Lrguk	leucine-rich repeats and guanylate kinase domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308226	Lrguk	leucine-rich repeats and guanylate kinase domain containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308226	Lrguk	leucine-rich repeats and guanylate kinase domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308227	Klb	klotho beta	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1604985	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29289645
1308227	Klb	klotho beta	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1604985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:28492532
1308227	Klb	klotho beta	gene	DOID:0111586	Martsolf syndrome 1		ISO	RGD:1604985	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Martsolf syndrome 1	PMID:25741868
1308227	Klb	klotho beta	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1604985	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
1308227	Klb	klotho beta	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1331989	D	RGD:10403060|PMID:23796581	20151106	RGD		protein:increased expression:outer nuclear layer:	
1308227	Klb	klotho beta	gene	DOID:1279	ocular motility disease		ISO	RGD:1604985	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Ocular motility disease	PMID:25741868
1308227	Klb	klotho beta	gene	DOID:13938	amenorrhea		ISO	RGD:1604985	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:32870266
1308227	Klb	klotho beta	gene	DOID:1909	melanoma		ISO	RGD:1604985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308227	Klb	klotho beta	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1604985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:28492532
1308227	Klb	klotho beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1604985	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308227	Klb	klotho beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308228	Skic8	SKI8 subunit of superkiller complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308228	Skic8	SKI8 subunit of superkiller complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308228	Skic8	SKI8 subunit of superkiller complex	gene	DOID:10534	stomach cancer		ISO	RGD:1601957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308228	Skic8	SKI8 subunit of superkiller complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308228	Skic8	SKI8 subunit of superkiller complex	gene	DOID:1115	sarcoma		ISO	RGD:1601957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308228	Skic8	SKI8 subunit of superkiller complex	gene	DOID:4362	cervical cancer		ISO	RGD:1601957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308228	Skic8	SKI8 subunit of superkiller complex	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308228	Skic8	SKI8 subunit of superkiller complex	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308228	Skic8	SKI8 subunit of superkiller complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308229	Slc43a1	solute carrier family 43 member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308229	Slc43a1	solute carrier family 43 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308229	Slc43a1	solute carrier family 43 member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308229	Slc43a1	solute carrier family 43 member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308229	Slc43a1	solute carrier family 43 member 1	gene	DOID:1909	melanoma		ISO	RGD:1317883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308229	Slc43a1	solute carrier family 43 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317883	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308229	Slc43a1	solute carrier family 43 member 1	gene	DOID:3275	thymoma		ISO	RGD:1317883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308229	Slc43a1	solute carrier family 43 member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308229	Slc43a1	solute carrier family 43 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308229	Slc43a1	solute carrier family 43 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308229	Slc43a1	solute carrier family 43 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308229	Slc43a1	solute carrier family 43 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308229	Slc43a1	solute carrier family 43 member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:10534	stomach cancer		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:1115	sarcoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:1324	lung cancer		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:3070	high grade glioma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:3275	thymoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:4362	cervical cancer		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:5041	esophageal cancer		ISO	RGD:1317885	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:6039	uveal melanoma		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308230	Eif3l	eukaryotic translation initiation factor 3, subunit L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308231	Rhbdd2	rhomboid domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308231	Rhbdd2	rhomboid domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308231	Rhbdd2	rhomboid domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308231	Rhbdd2	rhomboid domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308231	Rhbdd2	rhomboid domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308231	Rhbdd2	rhomboid domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308231	Rhbdd2	rhomboid domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308231	Rhbdd2	rhomboid domain containing 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1308231	Rhbdd2	rhomboid domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308234	Carns1	carnosine synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:2301770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308234	Carns1	carnosine synthase 1	gene	DOID:1909	melanoma		ISO	RGD:2301770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308234	Carns1	carnosine synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2301770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308234	Carns1	carnosine synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2301770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:0060480	left ventricular noncompaction		ISS	RGD:1317895	D	RGD:13592920	20191010	MouseDO		OMIM:604169	
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:0070266	congenital disorder of glycosylation type IIn		ISO	RGD:1317894	D	RGD:7240710	20160113	OMIM			
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:0070266	congenital disorder of glycosylation type IIn		ISO	RGD:1317894	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDG IIn | ClinVar Annotator: match by term: SLC39A8-CDG | ClinVar Annotator: match by term: SLC39A8-related condition	PMID:25741868|PMID:28492532|PMID:32313153
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:1324	lung cancer		ISO	RGD:1317894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:1826	epilepsy		ISO	RGD:1317894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: seizures	PMID:25741868|PMID:26637978|PMID:26637979|PMID:2809732|PMID:28492532|PMID:29453449
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1317894	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:630	genetic disease		ISO	RGD:1317894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:9000304	Manganese Poisoning		ISO	RGD:1317894	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29429640
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317894	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317894	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317894	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308236	Slc39a8	solute carrier family 39 member 8	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1317894	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532
1308239	Cd209a	CD209a molecule	gene	DOID:5434	scrapie		ISO	RGD:1317899	D	RGD:40400758|PMID:27522473	20201104	RGD			
1308239	Cd209a	CD209a molecule	gene	DOID:9004484	Sepsis		ISO	RGD:1317899	D	RGD:39938991|PMID:23254286	20201018	RGD			
1308239	Cd209a	CD209a molecule	gene	DOID:9006550	hepatosplenic schistosomiasis		ISO	RGD:1317899	D	RGD:39938990|PMID:29386115	20201018	RGD			
1308239	Cd209a	CD209a molecule	gene	DOID:9006550	hepatosplenic schistosomiasis		ISO	RGD:1317899	D	RGD:39938995|PMID:24729611	20201018	RGD		mRNA,protein:decreased expression:spleen,liver (mouse)	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1317900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1317900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:1909	melanoma		ISO	RGD:1317900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:3070	high grade glioma		ISO	RGD:1317900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:3275	thymoma		ISO	RGD:1317900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: Cervix cancer	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317900	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308240	Fchsd1	FCH and double SH3 domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308241	Adgra1	adhesion G protein-coupled receptor A1	gene	DOID:4362	cervical cancer		ISO	RGD:1317902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308241	Adgra1	adhesion G protein-coupled receptor A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308244	Mpped1	metallophosphoesterase domain containing 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1317908	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1308244	Mpped1	metallophosphoesterase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308245	Coq8a	coenzyme Q8A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:22036850|PMID:24164873|PMID:25498144|PMID:25741868|PMID:26467025|PMID:27106809|PMID:27142713|PMID:28492532|PMID:30637285|PMID:30968303|PMID:32337771
1308245	Coq8a	coenzyme Q8A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:26467025
1308245	Coq8a	coenzyme Q8A	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1343862	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar Annotator: match by term: Dysmetria	PMID:25741868
1308245	Coq8a	coenzyme Q8A	gene	DOID:0070238	primary coenzyme Q10 deficiency 1		ISO	RGD:1343862	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1	PMID:24033266
1308245	Coq8a	coenzyme Q8A	gene	DOID:0070241	primary coenzyme Q10 deficiency 4		ISO	RGD:1343862	D	RGD:7240710	20130425	OMIM			
1308245	Coq8a	coenzyme Q8A	gene	DOID:0070241	primary coenzyme Q10 deficiency 4		ISO	RGD:1343862	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COENZYME Q10 DEFICIENCY, PRIMARY, 4 | ClinVar Annotator: match by term: COQ8A-related condition | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9	PMID:17576681|PMID:18319072|PMID:22036850|PMID:24164873|PMID:25131622|PMID:25280894|PMID:25356970|PMID:25498144|PMID:25741868|PMID:26467025|PMID:27106809|PMID:27142713|PMID:27848944|PMID:28492532|PMID:29159460|PMID:29255295|PMID:29482223|PMID:29915382|PMID:30637285|PMID:30968303|PMID:31621627|PMID:31890231|PMID:32337771|PMID:33622667|PMID:33949708|PMID:34638552|PMID:35139868|PMID:35872528|PMID:37476682|PMID:9536098
1308245	Coq8a	coenzyme Q8A	gene	DOID:0070241	primary coenzyme Q10 deficiency 4		ISS	RGD:1317910	D	RGD:13592920	20230718	MouseDO		OMIM:612016	
1308245	Coq8a	coenzyme Q8A	gene	DOID:0110535	autosomal recessive nonsyndromic deafness 9		ISO	RGD:1343862	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9	PMID:24218524|PMID:25326637|PMID:26467025|PMID:28492532|PMID:32743982|PMID:32961396|PMID:34663476
1308245	Coq8a	coenzyme Q8A	gene	DOID:10534	stomach cancer		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308245	Coq8a	coenzyme Q8A	gene	DOID:1059	intellectual disability		ISO	RGD:1343862	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:18319072|PMID:22036850|PMID:25741868|PMID:27142713|PMID:28492532|PMID:29915382|PMID:30548255|PMID:32337771|PMID:34663476
1308245	Coq8a	coenzyme Q8A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308245	Coq8a	coenzyme Q8A	gene	DOID:1826	epilepsy		ISO	RGD:1343862	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18414213|PMID:22036850|PMID:24164873|PMID:25741868|PMID:26467025|PMID:26640698|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30548255|PMID:30968303|PMID:31621627|PMID:32337771|PMID:32637629|PMID:34663476|PMID:34712575|PMID:36295857|PMID:38570878
1308245	Coq8a	coenzyme Q8A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1308245	Coq8a	coenzyme Q8A	gene	DOID:1909	melanoma		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308245	Coq8a	coenzyme Q8A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308245	Coq8a	coenzyme Q8A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308245	Coq8a	coenzyme Q8A	gene	DOID:480	movement disease		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:22036850|PMID:24164873|PMID:25498144|PMID:25741868|PMID:26467025|PMID:27106809|PMID:27142713|PMID:28492532|PMID:30637285|PMID:30968303|PMID:32337771
1308245	Coq8a	coenzyme Q8A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29255295
1308245	Coq8a	coenzyme Q8A	gene	DOID:5041	esophageal cancer		ISO	RGD:1343862	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29255295
1308245	Coq8a	coenzyme Q8A	gene	DOID:543	dystonia		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:22036850|PMID:25498144|PMID:25741868|PMID:26467025|PMID:27142713|PMID:28492532|PMID:29482223|PMID:32337771|PMID:33622667|PMID:33949708|PMID:35872528|PMID:37476682
1308245	Coq8a	coenzyme Q8A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308245	Coq8a	coenzyme Q8A	gene	DOID:6039	uveal melanoma		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308245	Coq8a	coenzyme Q8A	gene	DOID:630	genetic disease		ISO	RGD:1343862	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25131622|PMID:25280894|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29255295|PMID:32337771|PMID:32685350
1308245	Coq8a	coenzyme Q8A	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1343862	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:25741868
1308245	Coq8a	coenzyme Q8A	gene	DOID:9001722	Dysarthria		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:22036850|PMID:24164873|PMID:25498144|PMID:25741868|PMID:26467025|PMID:27106809|PMID:27142713|PMID:28492532|PMID:30637285|PMID:30968303|PMID:32337771
1308245	Coq8a	coenzyme Q8A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:22036850|PMID:25498144|PMID:25741868|PMID:26467025|PMID:27142713|PMID:28492532|PMID:29482223|PMID:32337771|PMID:33622667|PMID:33949708|PMID:35872528|PMID:37476682
1308245	Coq8a	coenzyme Q8A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1308245	Coq8a	coenzyme Q8A	gene	DOID:9004866	Ataxia		ISO	RGD:1343862	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:22036850|PMID:24164873|PMID:25498144|PMID:25741868|PMID:26467025|PMID:27106809|PMID:27142713|PMID:28492532|PMID:29482223|PMID:30637285|PMID:30968303|PMID:32337771|PMID:33622667|PMID:33949708|PMID:35872528|PMID:37476682
1308245	Coq8a	coenzyme Q8A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308245	Coq8a	coenzyme Q8A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343862	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1308245	Coq8a	coenzyme Q8A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343862	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:18414213|PMID:22036850|PMID:24164873|PMID:25741868|PMID:26467025|PMID:26640698|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30548255|PMID:30968303|PMID:31621627|PMID:32337771|PMID:32637629|PMID:34663476|PMID:34712575|PMID:36295857|PMID:38570878
1308245	Coq8a	coenzyme Q8A	gene	DOID:9005616	Micrognathism		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1308245	Coq8a	coenzyme Q8A	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1343862	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:18319072|PMID:25741868|PMID:27142713|PMID:28492532|PMID:29915382
1308245	Coq8a	coenzyme Q8A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308245	Coq8a	coenzyme Q8A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18319074|PMID:20580948|PMID:24164873|PMID:25741868|PMID:28492532
1308245	Coq8a	coenzyme Q8A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343862	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25131622|PMID:25280894|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29255295|PMID:32337771
1308245	Coq8a	coenzyme Q8A	gene	DOID:936	brain disease		ISO	RGD:1343862	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:18414213|PMID:22036850|PMID:24164873|PMID:25741868|PMID:26467025|PMID:26640698|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30548255|PMID:30968303|PMID:31621627|PMID:32337771|PMID:32637629|PMID:34663476|PMID:34712575|PMID:36295857|PMID:38570878
1308245	Coq8a	coenzyme Q8A	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1343862	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1308247	Polm	DNA polymerase mu	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308247	Polm	DNA polymerase mu	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317912	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308247	Polm	DNA polymerase mu	gene	DOID:10534	stomach cancer		ISO	RGD:1317912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308247	Polm	DNA polymerase mu	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308247	Polm	DNA polymerase mu	gene	DOID:1115	sarcoma		ISO	RGD:1317912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308247	Polm	DNA polymerase mu	gene	DOID:1909	melanoma		ISO	RGD:1317912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308247	Polm	DNA polymerase mu	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308247	Polm	DNA polymerase mu	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308247	Polm	DNA polymerase mu	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308247	Polm	DNA polymerase mu	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308248	Pld3	phospholipase D family, member 3	gene	DOID:0080288	spinocerebellar ataxia 46		ISO	RGD:1317914	D	RGD:7240710	20190315	OMIM			
1308248	Pld3	phospholipase D family, member 3	gene	DOID:0080288	spinocerebellar ataxia 46		ISO	RGD:1317914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PLD3-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 46	PMID:25741868|PMID:26411346|PMID:28492532|PMID:29053796
1308248	Pld3	phospholipase D family, member 3	gene	DOID:0080600	COVID-19		ISO	RGD:1317914	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308248	Pld3	phospholipase D family, member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308248	Pld3	phospholipase D family, member 3	gene	DOID:1324	lung cancer		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308248	Pld3	phospholipase D family, member 3	gene	DOID:1909	melanoma		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308248	Pld3	phospholipase D family, member 3	gene	DOID:3070	high grade glioma		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308248	Pld3	phospholipase D family, member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308248	Pld3	phospholipase D family, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308248	Pld3	phospholipase D family, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308248	Pld3	phospholipase D family, member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308248	Pld3	phospholipase D family, member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308250	Fer1l4	fer-1-like family member 4	gene	DOID:0080600	COVID-19		ISO	RGD:1350956	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308251	Prxl2b	peroxiredoxin like 2B	gene	DOID:10316	pneumoconiosis		ISO	RGD:1603910	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
1308251	Prxl2b	peroxiredoxin like 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1603910	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308251	Prxl2b	peroxiredoxin like 2B	gene	DOID:1115	sarcoma		ISO	RGD:1603910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308251	Prxl2b	peroxiredoxin like 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1603910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308251	Prxl2b	peroxiredoxin like 2B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308251	Prxl2b	peroxiredoxin like 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308251	Prxl2b	peroxiredoxin like 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308251	Prxl2b	peroxiredoxin like 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308251	Prxl2b	peroxiredoxin like 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308252	Ffar4	free fatty acid receptor 4	gene	DOID:1324	lung cancer		ISO	RGD:1317919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308252	Ffar4	free fatty acid receptor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308252	Ffar4	free fatty acid receptor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308253	Bin3	bridging integrator 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308253	Bin3	bridging integrator 3	gene	DOID:0060058	lymphoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308253	Bin3	bridging integrator 3	gene	DOID:1909	melanoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308253	Bin3	bridging integrator 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308253	Bin3	bridging integrator 3	gene	DOID:3275	thymoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308253	Bin3	bridging integrator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308253	Bin3	bridging integrator 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308253	Bin3	bridging integrator 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308253	Bin3	bridging integrator 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308253	Bin3	bridging integrator 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308253	Bin3	bridging integrator 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308253	Bin3	bridging integrator 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1317924	D	RGD:11554173	20220208	CTD		CTD Direct Evidence: marker/mechanism	PMID:32215045
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1317924	D	RGD:2315107|PMID:12907594	20091218	RGD			
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:1115	sarcoma		ISO	RGD:1317924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:1324	lung cancer		ISO	RGD:1317924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:1612	breast cancer		ISO	RGD:1317924	D	RGD:2315106|PMID:14639658	20091218	RGD		mRNA:increased expression:breast	
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:1317924	D	RGD:2315108|PMID:11568975	20091218	RGD		mRNA:increased expression:rectum	
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:3275	thymoma		ISO	RGD:1317924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1317924	D	RGD:2315108|PMID:11568975	20091218	RGD		mRNA:increased expression:stomach	
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1317924	D	RGD:2315108|PMID:11568975	20091218	RGD		mRNA:increased expression:kidney	
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:65	connective tissue disease		ISO	RGD:1317924	D	RGD:8554872	20250423	ClinVar		ClinVar Annotator: match by term: Hereditary disorder of connective tissue	PMID:25741868|PMID:36928819
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317924	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308255	Pmepa1	prostate transmembrane protein, androgen induced 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1317926	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18716850
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0050742	nicotine dependence		ISO	RGD:1317926	D	RGD:407987268|PMID:35170441	20241021	RGD		DNA:hypermethylation:promoter, blood	
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0061143	complex cortical dysplasia with other brain malformations 10		ISO	RGD:1317926	D	RGD:7240710	20191211	OMIM			
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0061143	complex cortical dysplasia with other brain malformations 10		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 | ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 10	PMID:25189415|PMID:25741868|PMID:25753423|PMID:28492532|PMID:31510873|PMID:31585108|PMID:32766464|PMID:34063511
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0081218	autosomal recessive intellectual developmental disorder 74		ISO	RGD:1317926	D	RGD:7240710	20240306	OMIM			
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0081218	autosomal recessive intellectual developmental disorder 74		ISO	RGD:1317926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 74 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 74	PMID:25189415|PMID:25741868|PMID:28492532|PMID:31510873|PMID:31585108|PMID:32766464|PMID:33161245|PMID:34063511
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0090137	complex cortical dysplasia with other brain malformations 1		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 1	PMID:25741868
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0112104	Sotos syndrome 3		ISO	RGD:1317926	D	RGD:7240710	20190315	OMIM			
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:0112104	Sotos syndrome 3		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: APC2-related condition | ClinVar Annotator: match by term: Sotos syndrome 3	PMID:25189415|PMID:25741868|PMID:28492532|PMID:31510873|PMID:32766464|PMID:34063511
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:1115	sarcoma		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:1317926	D	RGD:407987270|PMID:31239533	20241021	RGD		DNA, mRNA, protein:hypermethylation, decreased expression:brain	
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:1826	epilepsy		ISO	RGD:1317926	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:3275	thymoma		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317926	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:630	genetic disease		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25189415|PMID:25741868|PMID:28492532|PMID:31510873|PMID:31585108|PMID:32766464|PMID:34063511
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:674	cleft palate		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cleft palate	PMID:32641753
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:8927	learning disability		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:28492532
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1317926	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:18716850|PMID:21278247
1308256	Apc2	APC regulator of WNT signaling pathway 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317926	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
1308257	Iffo1	intermediate filament family orphan 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308257	Iffo1	intermediate filament family orphan 1	gene	DOID:1115	sarcoma		ISO	RGD:1603680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308257	Iffo1	intermediate filament family orphan 1	gene	DOID:3070	high grade glioma		ISO	RGD:1603680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308257	Iffo1	intermediate filament family orphan 1	gene	DOID:3275	thymoma		ISO	RGD:1603680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308257	Iffo1	intermediate filament family orphan 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308257	Iffo1	intermediate filament family orphan 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308257	Iffo1	intermediate filament family orphan 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308258	Ticam2	TIR domain containing adaptor molecule 2	gene	DOID:0080599	Coronavirus infectious disease		ISS	RGD:1550939	D	RGD:13592920	20200730	MouseDO			
1308258	Ticam2	TIR domain containing adaptor molecule 2	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1317929	D	RGD:11554173	20200331	CTD		CTD Direct Evidence: marker/mechanism	PMID:26861016
1308258	Ticam2	TIR domain containing adaptor molecule 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:1317929	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
1308260	Ano10	anoctamin 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308260	Ano10	anoctamin 10	gene	DOID:0050999	autosomal recessive spinocerebellar ataxia 10		ISO	RGD:1605667	D	RGD:7240710	20140903	OMIM			
1308260	Ano10	anoctamin 10	gene	DOID:0050999	autosomal recessive spinocerebellar ataxia 10		ISO	RGD:1605667	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANO10-related condition | ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 10	PMID:16199547|PMID:21092923|PMID:25089919|PMID:25182700|PMID:25425649|PMID:25730773|PMID:25741868|PMID:25976027|PMID:26467025|PMID:27066545|PMID:27091155|PMID:27142713|PMID:27270446|PMID:28492532|PMID:29482223|PMID:30078120|PMID:30515630|PMID:31301133|PMID:31477691|PMID:31589614|PMID:32620747|PMID:33223419|PMID:33374413|PMID:33624863|PMID:34234304|PMID:34906502|PMID:35648332|PMID:36698452|PMID:36959044|PMID:37816627
1308260	Ano10	anoctamin 10	gene	DOID:10534	stomach cancer		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308260	Ano10	anoctamin 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308260	Ano10	anoctamin 10	gene	DOID:1115	sarcoma		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308260	Ano10	anoctamin 10	gene	DOID:12849	autistic disorder		ISO	RGD:1605667	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1308260	Ano10	anoctamin 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308260	Ano10	anoctamin 10	gene	DOID:3275	thymoma		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308260	Ano10	anoctamin 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1605667	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308260	Ano10	anoctamin 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308260	Ano10	anoctamin 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025
1308260	Ano10	anoctamin 10	gene	DOID:630	genetic disease		ISO	RGD:1605667	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
1308260	Ano10	anoctamin 10	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1605667	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1308260	Ano10	anoctamin 10	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1605667	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: urinary incontinence	PMID:25741868
1308260	Ano10	anoctamin 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308261	Llph	LLP homolog, long-term synaptic facilitation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308261	Llph	LLP homolog, long-term synaptic facilitation factor	gene	DOID:10534	stomach cancer		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308261	Llph	LLP homolog, long-term synaptic facilitation factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308261	Llph	LLP homolog, long-term synaptic facilitation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308261	Llph	LLP homolog, long-term synaptic facilitation factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308261	Llph	LLP homolog, long-term synaptic facilitation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308261	Llph	LLP homolog, long-term synaptic facilitation factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308262	Myl7	myosin light chain 7	gene	DOID:1115	sarcoma		ISO	RGD:1317934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308262	Myl7	myosin light chain 7	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1317934	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9527842
1308262	Myl7	myosin light chain 7	gene	DOID:14250	Down syndrome		ISO	RGD:1317935	D	RGD:1580934|PMID:12083776	19990101	RGD			
1308262	Myl7	myosin light chain 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308262	Myl7	myosin light chain 7	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1308262	Myl7	myosin light chain 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308263	Adck1	aarF domain containing kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308263	Adck1	aarF domain containing kinase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308263	Adck1	aarF domain containing kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317936	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308263	Adck1	aarF domain containing kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308263	Adck1	aarF domain containing kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308263	Adck1	aarF domain containing kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308263	Adck1	aarF domain containing kinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308263	Adck1	aarF domain containing kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308263	Adck1	aarF domain containing kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:0061058	immunodeficiency 88	susceptibility	ISO	RGD:1317938	D	RGD:7240710	20260812	OMIM			
1308264	Tbx21	T-box transcription factor 21	gene	DOID:0080815	childhood-onset asthma	severity	ISO	RGD:1317938	D	RGD:626469564|PMID:25056814	20250916	RGD		DNA:SNP,haplotype:rs4794067	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:0080815	childhood-onset asthma	susceptibility	ISO	RGD:1317938	D	RGD:626469546|PMID:19362357	20250915	RGD		DNA:SNPs:promoter,cds:-1514T>C,9902C>T,G2844A	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:0080815	childhood-onset asthma	treatment	ISO	RGD:1317938	D	RGD:626469551|PMID:15604153	20250915	RGD		DNA:SNP:cds:p.H33Q	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:1317938	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16502481
1308264	Tbx21	T-box transcription factor 21	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:1317938	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO	PMID:25741868
1308264	Tbx21	T-box transcription factor 21	gene	DOID:0080822	aspirin-induced respiratory disease	susceptibility	ISO	RGD:1317938	D	RGD:626469542|PMID:15806396	20250911	RGD		DNA:polymorphism:promoter: :-1993T>C	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:0111579	asthma, nasal polyps, and aspirin intolerance		ISO	RGD:1317938	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:0111579	asthma, nasal polyps, and aspirin intolerance		ISO	RGD:1317938	D	RGD:8554872	20190507	ClinVar		ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance	PMID:25741868
1308264	Tbx21	T-box transcription factor 21	gene	DOID:0111579	asthma, nasal polyps, and aspirin intolerance	susceptibility	ISO	RGD:1317938	D	RGD:7240710	20260812	OMIM			
1308264	Tbx21	T-box transcription factor 21	gene	DOID:12365	malaria		ISO	RGD:1317938	D	RGD:38455985|PMID:19338000	20200807	RGD			
1308264	Tbx21	T-box transcription factor 21	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317938	D	RGD:626469805|PMID:29564567	20250917	RGD		protein:increased expression:heart	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:13141	uveitis		IEP		D	RGD:628359014|PMID:16896914	20250918	RGD		mRNA,protein:increased expression:iris,spleen	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:2518	orchitis	disease_progression	IEP		D	RGD:628359026|PMID:21109610	20250919	RGD			
1308264	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma		IMP		D	RGD:626469806|PMID:16626511	20250917	RGD			
1308264	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma		ISO	RGD:1317938	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15806396
1308264	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma		ISS	RGD:1317939	D	RGD:13592920	20230718	MouseDO		OMIM:600807	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma	no_association	ISO	RGD:1317938	D	RGD:626469543|PMID:12938094	20250911	RGD		DNA:polymorphism: :	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma	treatment	IAGP		D	RGD:626469573|PMID:24107858	20250916	RGD		DNA:SNP: :rs9910408	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma	treatment	IEP		D	RGD:5128803|PMID:18186587	20250919	RGD			
1308264	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma	treatment	IEP		D	RGD:628359045|PMID:16635408	20250922	RGD			
1308264	Tbx21	T-box transcription factor 21	gene	DOID:2841	asthma	treatment	ISO	RGD:1317938	D	RGD:5147640|PMID:20175803	20250916	RGD		DNA:SNP:cds:p.H33Q (C>G)	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:7188	autoimmune thyroiditis	treatment	IEP		D	RGD:628359025|PMID:26523790	20250919	RGD			
1308264	Tbx21	T-box transcription factor 21	gene	DOID:783	end stage renal disease		ISO	RGD:1317938	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:26970513
1308264	Tbx21	T-box transcription factor 21	gene	DOID:823	periapical periodontitis	severity	IEP		D	RGD:628359044|PMID:34916766	20250922	RGD			
1308264	Tbx21	T-box transcription factor 21	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	IEP		D	RGD:8547936|PMID:22800566	20250922	RGD			
1308264	Tbx21	T-box transcription factor 21	gene	DOID:9003936	Cardiomegaly		IEP		D	RGD:626469805|PMID:29564567	20250917	RGD		mRNA,protein:increased expression:heart	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:9004283	Transplant Rejection	treatment	IEP		D	RGD:628359046|PMID:25218666	20250922	RGD			
1308264	Tbx21	T-box transcription factor 21	gene	DOID:9004484	Sepsis	severity	ISO	RGD:1317938	D	RGD:38455982|PMID:25403265	20200806	RGD			
1308264	Tbx21	T-box transcription factor 21	gene	DOID:9005005	Oral Ulcer	treatment	IEP		D	RGD:628359047|PMID:37890261	20250922	RGD			
1308264	Tbx21	T-box transcription factor 21	gene	DOID:9005372	Inflammation		ISO	RGD:1317938	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22325453
1308264	Tbx21	T-box transcription factor 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308264	Tbx21	T-box transcription factor 21	gene	DOID:9415	allergic asthma	susceptibility	ISO	RGD:1317938	D	RGD:626469549|PMID:17949803	20250915	RGD		DNA:SNPs: :rs11650354,rs16947078	
1308265	Dmbx1	diencephalon/mesencephalon homeobox 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308265	Dmbx1	diencephalon/mesencephalon homeobox 1	gene	DOID:540	strabismus		ISO	RGD:1317940	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	
1308265	Dmbx1	diencephalon/mesencephalon homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308266	Map1s	microtubule-associated protein 1S	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308266	Map1s	microtubule-associated protein 1S	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317942	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308266	Map1s	microtubule-associated protein 1S	gene	DOID:1324	lung cancer		ISO	RGD:1317942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308266	Map1s	microtubule-associated protein 1S	gene	DOID:1909	melanoma		ISO	RGD:1317942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308266	Map1s	microtubule-associated protein 1S	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308266	Map1s	microtubule-associated protein 1S	gene	DOID:4362	cervical cancer		ISO	RGD:1317942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308266	Map1s	microtubule-associated protein 1S	gene	DOID:5041	esophageal cancer		ISO	RGD:1317942	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308266	Map1s	microtubule-associated protein 1S	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308266	Map1s	microtubule-associated protein 1S	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308266	Map1s	microtubule-associated protein 1S	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308266	Map1s	microtubule-associated protein 1S	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308266	Map1s	microtubule-associated protein 1S	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:3070	high grade glioma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:3275	thymoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:9002367	Diamond-Blackfan Anemia 21		ISO	RGD:1602884	D	RGD:7240710	20221102	OMIM			
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:9002367	Diamond-Blackfan Anemia 21		ISO	RGD:1602884	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 21 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 21	PMID:25741868
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308267	Heatr3	HEAT repeat containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308269	Plek	pleckstrin	gene	DOID:11476	osteoporosis		ISO	RGD:1317946	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
1308269	Plek	pleckstrin	gene	DOID:1909	melanoma		ISO	RGD:1317946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308269	Plek	pleckstrin	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1317946	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12833524
1308269	Plek	pleckstrin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317946	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308269	Plek	pleckstrin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308269	Plek	pleckstrin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308270	Acp4	acid phosphatase 4	gene	DOID:0080953	amelogenesis imperfecta type 1J		ISO	RGD:1317948	D	RGD:7240710	20190315	OMIM			
1308270	Acp4	acid phosphatase 4	gene	DOID:0080953	amelogenesis imperfecta type 1J		ISO	RGD:1317948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ACP4-related condition | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J	PMID:25741868|PMID:27843125|PMID:28513613|PMID:37228816|PMID:40741335
1308270	Acp4	acid phosphatase 4	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1317948	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amelogenesis Imperfecta | ClinVar Annotator: match by term: amelogenesis imperfecta type 1	PMID:25741868
1308270	Acp4	acid phosphatase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308270	Acp4	acid phosphatase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308272	Srpk1	SRSF protein kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317950	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308272	Srpk1	SRSF protein kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308272	Srpk1	SRSF protein kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308272	Srpk1	SRSF protein kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308272	Srpk1	SRSF protein kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308272	Srpk1	SRSF protein kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308272	Srpk1	SRSF protein kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308272	Srpk1	SRSF protein kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308272	Srpk1	SRSF protein kinase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308272	Srpk1	SRSF protein kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308272	Srpk1	SRSF protein kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308273	Ubqln4	ubiquilin 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1344813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308273	Ubqln4	ubiquilin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308273	Ubqln4	ubiquilin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308273	Ubqln4	ubiquilin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:0081230	autosomal recessive intellectual developmental disorder 69		ISO	RGD:1317955	D	RGD:7240710	20190424	OMIM			
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:0081230	autosomal recessive intellectual developmental disorder 69		ISO	RGD:1317955	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES, COGNITIVE DECLINE, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: ZBTB11-related condition	PMID:25741868
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:10534	stomach cancer		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:1324	lung cancer		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:3070	high grade glioma		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317955	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1317955	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1317955	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1308275	Zbtb11	zinc finger and BTB domain containing 11	gene	DOID:9256	colorectal cancer		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308276	Calhm2	calcium homeostasis modulator family member 2	gene	DOID:1307	dementia		ISS	RGD:1317958	D	RGD:13592920	20250724	MouseDO			
1308276	Calhm2	calcium homeostasis modulator family member 2	gene	DOID:1596	depressive disorder		ISS	RGD:1317958	D	RGD:13592920	20250724	MouseDO			
1308276	Calhm2	calcium homeostasis modulator family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317957	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308276	Calhm2	calcium homeostasis modulator family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308276	Calhm2	calcium homeostasis modulator family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317959	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:1324	lung cancer		ISO	RGD:1317959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1317959	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:17329238
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:1909	melanoma		ISO	RGD:1317959	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21499247
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:2773	contact dermatitis		ISO	RGD:1317959	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:4362	cervical cancer		ISO	RGD:1317959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317959	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1317959	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25686905
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1317959	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23146748
1308277	Akr1b10	aldo-keto reductase family 1 member B10	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1317959	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17597105
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:0111212	autosomal dominant distal hereditary motor neuronopathy 9		ISO	RGD:1317961	D	RGD:7240710	20190315	OMIM			
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:0111212	autosomal dominant distal hereditary motor neuronopathy 9		ISO	RGD:1317961	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 9 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9	PMID:25741868|PMID:28369220|PMID:34813128|PMID:35790048|PMID:35815345
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1317961	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:5419	schizophrenia		ISO	RGD:1317961	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:9003923	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES		ISO	RGD:1317961	D	RGD:7240710	20230621	OMIM			
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:9003923	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES		ISO	RGD:1317961	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | ClinVar Annotator: match by term: WARS1-related condition	PMID:25741868|PMID:28492532|PMID:34585293|PMID:35790048|PMID:35815345
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317961	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Developmental Delay	PMID:36937954
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308278	Wars1	tryptophanyl-tRNA synthetase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1317961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308279	Adnp2	ADNP homeobox 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308279	Adnp2	ADNP homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308279	Adnp2	ADNP homeobox 2	gene	DOID:1115	sarcoma		ISO	RGD:1605090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308280	Klk9	kallikrein related-peptidase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308281	Hif1an	hypoxia inducible factor 1 subunit alpha inhibitor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308281	Hif1an	hypoxia inducible factor 1 subunit alpha inhibitor	gene	DOID:10534	stomach cancer		ISO	RGD:1317966	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308281	Hif1an	hypoxia inducible factor 1 subunit alpha inhibitor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308281	Hif1an	hypoxia inducible factor 1 subunit alpha inhibitor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308281	Hif1an	hypoxia inducible factor 1 subunit alpha inhibitor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308281	Hif1an	hypoxia inducible factor 1 subunit alpha inhibitor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308281	Hif1an	hypoxia inducible factor 1 subunit alpha inhibitor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308282	Slc30a8	solute carrier family 30 member 8	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1317968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868
1308282	Slc30a8	solute carrier family 30 member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1317968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308282	Slc30a8	solute carrier family 30 member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308282	Slc30a8	solute carrier family 30 member 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308282	Slc30a8	solute carrier family 30 member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308282	Slc30a8	solute carrier family 30 member 8	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317968	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:19479076|PMID:19542200|PMID:20424817|PMID:21461562|PMID:21779873|PMID:24584071
1308282	Slc30a8	solute carrier family 30 member 8	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317968	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS, PROTECTION AGAINST | ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868
1308282	Slc30a8	solute carrier family 30 member 8	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1317968	D	RGD:7240710	20230505	OMIM			
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:0060058	lymphoma		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1344526	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Non-Hodgkin lymphoma	PMID:25741868|PMID:28492532|PMID:34508595|PMID:37454282
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:0060879	primary hypomagnesemia		ISO	RGD:1344526	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia	PMID:25741868|PMID:28492532|PMID:34508595|PMID:37454282
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1344526	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111465	combined oxidative phosphorylation deficiency 21		ISO	RGD:1344526	D	RGD:7240710	20170301	OMIM			
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111465	combined oxidative phosphorylation deficiency 21		ISO	RGD:1344526	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 21 | ClinVar Annotator: match by term: TARS2-related condition	PMID:17576681|PMID:24827421|PMID:25741868|PMID:28492532|PMID:34508595|PMID:9536098
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:1059	intellectual disability		ISO	RGD:1344526	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:12859	choreatic disease		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:13938	amenorrhea		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:25741868|PMID:28492532|PMID:34508595|PMID:37454282
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:1344526	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:3650	lactic acidosis		ISO	RGD:1344526	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:5041	esophageal cancer		ISO	RGD:1344526	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868|PMID:28492532|PMID:34508595|PMID:37454282
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:543	dystonia		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1344526	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:38703036
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:9000495	Tremor		ISO	RGD:1344526	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Limb tremor	PMID:25741868|PMID:28492532|PMID:34508595|PMID:37454282
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532|PMID:34508595|PMID:37454282
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344526	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004866	Ataxia		ISO	RGD:1344526	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532|PMID:34508595|PMID:37454282
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:9351	diabetes mellitus		ISO	RGD:1344526	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868
1308283	Tars2	threonyl-tRNA synthetase 2, mitochondrial	gene	DOID:936	brain disease		ISO	RGD:1344526	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
1308285	Stoml2	stomatin like 2	gene	DOID:2773	contact dermatitis		ISO	RGD:1317972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:0050952	spastic ataxia		ISO	RGD:1605663	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:10534	stomach cancer		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:10579	leukodystrophy		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:16199547|PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:1059	intellectual disability		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:16199547|PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:10907	microcephaly		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16199547|PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:11162	respiratory failure		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:1443	cerebral degeneration		ISO	RGD:1605663	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebral degeneration	PMID:17384640|PMID:19592391|PMID:23065766|PMID:23216004|PMID:24566671|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:1826	epilepsy		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	PMID:17384640|PMID:23216004|PMID:24566671|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:1827	generalized epilepsy		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:16199547|PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:1909	melanoma		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:2841	asthma		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:3275	thymoma		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:3405	histiocytosis		ISO	RGD:1605663	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Histiocytosis	PMID:17384640|PMID:19592391|PMID:23065766|PMID:23216004|PMID:24566671|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:630	genetic disease		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1605663	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:23216004|PMID:24566671|PMID:25741868|PMID:26327357|PMID:26620921|PMID:28492532|PMID:30006346|PMID:33977142
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9001981	Weight Loss		ISO	RGD:1605663	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:17384640|PMID:19592391|PMID:23065766|PMID:23216004|PMID:24566671|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:25741868
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868|PMID:33977142
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9004866	Ataxia		ISO	RGD:1605663	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:17384640|PMID:19592391|PMID:23065766|PMID:23216004|PMID:24566671|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9005077	Joint Instability		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:16199547|PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:33977142
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9007747	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation		ISO	RGD:1605663	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9007747	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation		ISO	RGD:1605663	D	RGD:7240710	20130221	OMIM			
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9007747	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation		ISO	RGD:1605663	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DARS2-related condition | ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION | ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	PMID:16199547|PMID:17384640|PMID:19592391|PMID:21493805|PMID:22843165|PMID:23065766|PMID:23216004|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25525159|PMID:25741868|PMID:26620921|PMID:28492532|PMID:30352563|PMID:31589614|PMID:33574740|PMID:33977142|PMID:34055681|PMID:34426522|PMID:34631948|PMID:35379322|PMID:35803560|PMID:35820270|PMID:40814755
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9009417	Charcot-Marie-Tooth disease, axonal, type 2LL		ISO	RGD:1605663	D	RGD:7240710	20260204	OMIM			
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9009417	Charcot-Marie-Tooth disease, axonal, type 2LL		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2LL	PMID:28492532|PMID:30373780|PMID:40814755
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308286	Dars2	aspartyl-tRNA synthetase 2 (mitochondrial)	gene	DOID:936	brain disease		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
1308287	Rnf32	ring finger protein 32	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308288	Lcp1	lymphocyte cytosolic protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308288	Lcp1	lymphocyte cytosolic protein 1	gene	DOID:0050742	nicotine dependence		ISO	RGD:1317977	D	RGD:11554173	20241105	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1308288	Lcp1	lymphocyte cytosolic protein 1	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1317977	D	RGD:401851917|PMID:18438686	20231031	RGD		DNA:SNP:: (rs1886040) (human)	
1308288	Lcp1	lymphocyte cytosolic protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308288	Lcp1	lymphocyte cytosolic protein 1	gene	DOID:1612	breast cancer		ISO	RGD:1317977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1308288	Lcp1	lymphocyte cytosolic protein 1	gene	DOID:1909	melanoma		ISO	RGD:1317977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308288	Lcp1	lymphocyte cytosolic protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308288	Lcp1	lymphocyte cytosolic protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317977	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308288	Lcp1	lymphocyte cytosolic protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308288	Lcp1	lymphocyte cytosolic protein 1	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:8892287	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:mucosa of middle ear	PMID:26711468|REF_RGD_ID:11553828
1308288	Lcp1	lymphocyte cytosolic protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317977	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308288	Lcp1	lymphocyte cytosolic protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308288	Lcp1	lymphocyte cytosolic protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308288	Lcp1	lymphocyte cytosolic protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308290	Zc3h11a	zinc finger CCCH-type containing 11A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605103	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25038754
1308291	Spata9	spermatogenesis associated 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308292	Nudt15	nudix hydrolase 15	gene	DOID:0060996	poor metabolism of thiopurines 2		ISO	RGD:1317982	D	RGD:7240710	20190315	OMIM			
1308292	Nudt15	nudix hydrolase 15	gene	DOID:0060996	poor metabolism of thiopurines 2		ISO	RGD:1317982	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: NUDT15-related condition | ClinVar Annotator: match by term: THIOPURINES, POOR METABOLISM OF, 2	PMID:22992668|PMID:25108385|PMID:25624441|PMID:26033531|PMID:26076924|PMID:26405151|PMID:26503813|PMID:26590936|PMID:26735160|PMID:26878724|PMID:27095468|PMID:27193222|PMID:27416873|PMID:27558924|PMID:27577869|PMID:27604507|PMID:28088792|PMID:28146264|PMID:28418010|PMID:28445187|PMID:28659275|PMID:29702976|PMID:29704867|PMID:29720126|PMID:29867468|PMID:29923122|PMID:29967377|PMID:30035323|PMID:30048756|PMID:30101994|PMID:30728528|PMID:31024313
1308292	Nudt15	nudix hydrolase 15	gene	DOID:1227	neutropenia		ISS	RGD:1317983	D	RGD:13592920	20240307	MouseDO			
1308292	Nudt15	nudix hydrolase 15	gene	DOID:12450	pancytopenia		ISS	RGD:1317983	D	RGD:13592920	20240307	MouseDO			
1308292	Nudt15	nudix hydrolase 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308292	Nudt15	nudix hydrolase 15	gene	DOID:615	leukopenia		ISS	RGD:1317983	D	RGD:13592920	20240307	MouseDO			
1308293	Hemk1	HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308293	Hemk1	HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine	gene	DOID:10534	stomach cancer		ISO	RGD:1343848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308293	Hemk1	HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine	gene	DOID:1324	lung cancer		ISO	RGD:1343848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308293	Hemk1	HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine	gene	DOID:1909	melanoma		ISO	RGD:1343848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308293	Hemk1	HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine	gene	DOID:3275	thymoma		ISO	RGD:1343848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308293	Hemk1	HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine	gene	DOID:4362	cervical cancer		ISO	RGD:1343848	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308293	Hemk1	HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308293	Hemk1	HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine	gene	DOID:6039	uveal melanoma		ISO	RGD:1343848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308293	Hemk1	HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308293	Hemk1	HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308293	Hemk1	HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308294	Nhlh2	nescient helix loop helix 2	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1317985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
1308294	Nhlh2	nescient helix loop helix 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308294	Nhlh2	nescient helix loop helix 2	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1317985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
1308294	Nhlh2	nescient helix loop helix 2	gene	DOID:9006791	Hypogonadotropic Hypogonadism 27 without Anosmia		ISO	RGD:1317985	D	RGD:7240710	20220223	OMIM			
1308294	Nhlh2	nescient helix loop helix 2	gene	DOID:9006791	Hypogonadotropic Hypogonadism 27 without Anosmia		ISO	RGD:1317985	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia	PMID:25741868
1308294	Nhlh2	nescient helix loop helix 2	gene	DOID:9970	obesity		ISO	RGD:1317985	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20808804
1308295	Rhbdl2	rhomboid like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308295	Rhbdl2	rhomboid like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308295	Rhbdl2	rhomboid like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308295	Rhbdl2	rhomboid like 2	gene	DOID:1909	melanoma		ISO	RGD:1317987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308295	Rhbdl2	rhomboid like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308295	Rhbdl2	rhomboid like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308295	Rhbdl2	rhomboid like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317987	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308295	Rhbdl2	rhomboid like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:0060058	lymphoma		ISO	RGD:1317989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:10327	anthracosis		ISO	RGD:1317989	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394417
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:1115	sarcoma		ISO	RGD:1317989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:1324	lung cancer		ISO	RGD:1317989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:1909	melanoma		ISO	RGD:1317989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:3275	thymoma		ISO	RGD:1317989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:4362	cervical cancer		ISO	RGD:1317989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:5041	esophageal cancer		ISO	RGD:1317989	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308297	Rbm26	RNA binding motif protein 26	gene	DOID:9256	colorectal cancer		ISO	RGD:1317989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308298	Mmp25	matrix metallopeptidase 25	gene	DOID:4362	cervical cancer		ISO	RGD:1317990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308298	Mmp25	matrix metallopeptidase 25	gene	DOID:674	cleft palate		ISO	RGD:1317990	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: cleft palate	
1308299	Oard1	O-acyl-ADP-ribose deacylase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308299	Oard1	O-acyl-ADP-ribose deacylase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1308299	Oard1	O-acyl-ADP-ribose deacylase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317992	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308299	Oard1	O-acyl-ADP-ribose deacylase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308299	Oard1	O-acyl-ADP-ribose deacylase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308299	Oard1	O-acyl-ADP-ribose deacylase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308299	Oard1	O-acyl-ADP-ribose deacylase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308301	Nle1	notchless homolog 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308301	Nle1	notchless homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308301	Nle1	notchless homolog 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308301	Nle1	notchless homolog 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308301	Nle1	notchless homolog 1	gene	DOID:1324	lung cancer		ISO	RGD:1604007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308301	Nle1	notchless homolog 1	gene	DOID:3275	thymoma		ISO	RGD:1604007	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308301	Nle1	notchless homolog 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308301	Nle1	notchless homolog 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604007	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308301	Nle1	notchless homolog 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308301	Nle1	notchless homolog 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604007	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308301	Nle1	notchless homolog 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604007	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308301	Nle1	notchless homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308301	Nle1	notchless homolog 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604007	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308301	Nle1	notchless homolog 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308301	Nle1	notchless homolog 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308302	Rrp8	ribosomal RNA processing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308302	Rrp8	ribosomal RNA processing 8	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1603685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1308302	Rrp8	ribosomal RNA processing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1603685	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308302	Rrp8	ribosomal RNA processing 8	gene	DOID:1115	sarcoma		ISO	RGD:1603685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308302	Rrp8	ribosomal RNA processing 8	gene	DOID:1324	lung cancer		ISO	RGD:1603685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308302	Rrp8	ribosomal RNA processing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1603685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308302	Rrp8	ribosomal RNA processing 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603685	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308302	Rrp8	ribosomal RNA processing 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308302	Rrp8	ribosomal RNA processing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308302	Rrp8	ribosomal RNA processing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308303	Atp6v0b	ATPase H+ transporting V0 subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1317997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308303	Atp6v0b	ATPase H+ transporting V0 subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308303	Atp6v0b	ATPase H+ transporting V0 subunit B	gene	DOID:1909	melanoma		ISO	RGD:1317997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308303	Atp6v0b	ATPase H+ transporting V0 subunit B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308303	Atp6v0b	ATPase H+ transporting V0 subunit B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308303	Atp6v0b	ATPase H+ transporting V0 subunit B	gene	DOID:5041	esophageal cancer		ISO	RGD:1317997	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308303	Atp6v0b	ATPase H+ transporting V0 subunit B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308303	Atp6v0b	ATPase H+ transporting V0 subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308303	Atp6v0b	ATPase H+ transporting V0 subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308303	Atp6v0b	ATPase H+ transporting V0 subunit B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308303	Atp6v0b	ATPase H+ transporting V0 subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308303	Atp6v0b	ATPase H+ transporting V0 subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308303	Atp6v0b	ATPase H+ transporting V0 subunit B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308305	Tchhl1	trichohyalin-like 1	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1605587	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex	PMID:25741868
1308307	Pdpr	pyruvate dehydrogenase phosphatase regulatory subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308307	Pdpr	pyruvate dehydrogenase phosphatase regulatory subunit	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1602881	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:27894351
1308307	Pdpr	pyruvate dehydrogenase phosphatase regulatory subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308307	Pdpr	pyruvate dehydrogenase phosphatase regulatory subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308307	Pdpr	pyruvate dehydrogenase phosphatase regulatory subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308307	Pdpr	pyruvate dehydrogenase phosphatase regulatory subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308307	Pdpr	pyruvate dehydrogenase phosphatase regulatory subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308307	Pdpr	pyruvate dehydrogenase phosphatase regulatory subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308307	Pdpr	pyruvate dehydrogenase phosphatase regulatory subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308307	Pdpr	pyruvate dehydrogenase phosphatase regulatory subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308308	Fbxo17	F-box protein 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318004	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308308	Fbxo17	F-box protein 17	gene	DOID:1909	melanoma		ISO	RGD:1318004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308308	Fbxo17	F-box protein 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308308	Fbxo17	F-box protein 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308308	Fbxo17	F-box protein 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISS	RGD:1623819	D	RGD:13592920	20181004	MouseDO		OMIM:613282 | OMIM:613387	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:1115	sarcoma		ISO	RGD:1351240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:1324	lung cancer		ISO	RGD:1351240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:1909	melanoma		ISO	RGD:1351240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:3275	thymoma		ISO	RGD:1351240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351240	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1351240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1351240	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308311	Sidt2	SID1 transmembrane family, member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308313	Uck1	uridine-cytidine kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308313	Uck1	uridine-cytidine kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1318012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308313	Uck1	uridine-cytidine kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1318012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308313	Uck1	uridine-cytidine kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308313	Uck1	uridine-cytidine kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1318012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308313	Uck1	uridine-cytidine kinase 1	gene	DOID:573	nerve compression syndrome		IEP		D	RGD:634248|PMID:10581173	20110609	RGD		mRNA:increased expression:spinal cord ventral horn (rat)	
1308313	Uck1	uridine-cytidine kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0050486	exanthem		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:11992256|PMID:16100350|PMID:17178739|PMID:20472245|PMID:21356079|PMID:23442610|PMID:24759409|PMID:25730877|PMID:25741868|PMID:26245507|PMID:26531310|PMID:26931528|PMID:28492532
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0050854	Muckle-Wells syndrome		ISO	RGD:1318014	D	RGD:7240710	20150211	OMIM			
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0050854	Muckle-Wells syndrome		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 2 | ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:16100350|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:19501000|PMID:20159265|PMID:20472245|PMID:21109514|PMID:21356079|PMID:21810457|PMID:22193915|PMID:22566169|PMID:22661645|PMID:23015306|PMID:23421920|PMID:23442610|PMID:24033266|PMID:24123366|PMID:24135410|PMID:24759409|PMID:25038238|PMID:25417688|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25979514|PMID:25988833|PMID:26020059|PMID:26218404|PMID:26245507|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26931528|PMID:27943240|PMID:27994174|PMID:28137891|PMID:28421071|PMID:28492532|PMID:28692792|PMID:28956000|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29322034|PMID:29922587|PMID:30407166|PMID:30431487|PMID:30808881|PMID:30974290|PMID:31155445|PMID:31816408|PMID:32082075|PMID:32199921|PMID:32490121|PMID:33020839|PMID:34519870|PMID:35874679|PMID:37368056|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318014	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0060500	drug allergy		ISO	RGD:1318014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19767079
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1318014	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1318014	D	RGD:11554173	20250114	CTD		CTD Direct Evidence: therapeutic	PMID:34274649
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISS	RGD:1318015	D	RGD:13592920	20190131	MouseDO		OMIM:613282 | OMIM:613387	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0080270	autosomal dominant nonsyndromic deafness 34		ISO	RGD:1318014	D	RGD:7240710	20190315	OMIM			
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0080270	autosomal dominant nonsyndromic deafness 34		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION | ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:21109514|PMID:21810457|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25417688|PMID:25596455|PMID:25741868|PMID:25979514|PMID:25988833|PMID:26020059|PMID:26386126|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:28956000|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:31155445|PMID:31816408|PMID:32490121|PMID:33020839|PMID:34519870|PMID:35874679|PMID:37368056|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0080848	long COVID		ISO	RGD:1318014	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Long COVID-19	PMID:33748830
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0081463	recurrent respiratory papillomatosis		ISO	RGD:1318014	D	RGD:626170614|PMID:32491958	20250902	RGD		mRNA:decreased expression:papilloma, pharyngeal epithelium	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0090029	CINCA syndrome		ISO	RGD:1318014	D	RGD:7240710	20180808	OMIM			
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0090029	CINCA syndrome		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar Annotator: match by term: Prieur Griscelli syndrome	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:16100350|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:20159265|PMID:20472245|PMID:21109514|PMID:21356079|PMID:21702021|PMID:21810457|PMID:22193915|PMID:22566169|PMID:22661645|PMID:23015306|PMID:23421920|PMID:23442610|PMID:24033266|PMID:24123366|PMID:24135410|PMID:24326009|PMID:24759409|PMID:25038238|PMID:25417688|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25979514|PMID:25988833|PMID:26020059|PMID:26218404|PMID:26245507|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26931528|PMID:27943240|PMID:27994174|PMID:28137891|PMID:28421071|PMID:28492532|PMID:28692792|PMID:28956000|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30069026|PMID:30407166|PMID:30808881|PMID:30974290|PMID:31155445|PMID:31816408|PMID:32082075|PMID:32199921|PMID:32490121|PMID:33020839|PMID:34519870|PMID:35874679|PMID:37368056|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0090029	CINCA syndrome		ISS	RGD:1318015	D	RGD:13592920	20230718	MouseDO		OMIM:607115	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0090061	familial cold autoinflammatory syndrome		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:15801036|PMID:16100350|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:20159265|PMID:20472245|PMID:21109514|PMID:21356079|PMID:22566169|PMID:22661645|PMID:23421920|PMID:23442610|PMID:24033266|PMID:24123366|PMID:24135410|PMID:24759409|PMID:25038238|PMID:25596455|PMID:25730877|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26218404|PMID:26245507|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26931528|PMID:27134254|PMID:27994174|PMID:28079503|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0090062	familial cold autoinflammatory syndrome 1		ISO	RGD:1318014	D	RGD:7240710	20130221	OMIM			
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0090062	familial cold autoinflammatory syndrome 1		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:21109514|PMID:21810457|PMID:22193915|PMID:22566169|PMID:22661645|PMID:23015306|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25417688|PMID:25596455|PMID:25639832|PMID:25741868|PMID:25979514|PMID:25988833|PMID:26020059|PMID:26218404|PMID:26386126|PMID:26467025|PMID:26531310|PMID:27943240|PMID:27994174|PMID:28137891|PMID:28421071|PMID:28492532|PMID:28692792|PMID:28956000|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:31155445|PMID:31816408|PMID:32082075|PMID:32199921|PMID:32490121|PMID:33020839|PMID:34519870|PMID:35874679|PMID:37368056|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0090062	familial cold autoinflammatory syndrome 1		ISS	RGD:1318015	D	RGD:13592920	20230718	MouseDO		OMIM:120100	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:10175	optic papillitis		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic papillitis	PMID:11992256|PMID:16100350|PMID:17178739|PMID:20472245|PMID:21356079|PMID:23442610|PMID:24759409|PMID:25730877|PMID:25741868|PMID:26245507|PMID:26531310|PMID:26931528|PMID:28492532
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:10320	asbestosis		ISO	RGD:1318014	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:24142982
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1318014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:11396	pulmonary edema		ISO	RGD:1318014	D	RGD:11554173	20210413	CTD		CTD Direct Evidence: marker/mechanism	PMID:33012731
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:11830	myopia		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:12176	goiter		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:12351	alcoholic hepatitis	treatment	IEP		D	RGD:15036816|PMID:27939985	20200102	RGD			
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:12849	autistic disorder		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1318014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:1406	iritis		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Iritis	PMID:11992256|PMID:16100350|PMID:17178739|PMID:20472245|PMID:21356079|PMID:23442610|PMID:24759409|PMID:25730877|PMID:25741868|PMID:26245507|PMID:26531310|PMID:26931528|PMID:28492532
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:1555	urticaria	susceptibility	ISO	RGD:1318014	D	RGD:1600862|PMID:11687797	20070328	RGD		familial cold autoinflammatory syndrome, OMIM:120100;DNA:missense mutations: :multiple	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:1596	depressive disorder		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1318014	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:1891	optic nerve disease		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1318014	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:1924	hypogonadism		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:2030	anxiety disorder		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:2280	hidradenitis suppurativa		ISO	RGD:1318014	D	RGD:11554173	20190312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318014	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:2377	multiple sclerosis		ISO	RGD:1318014	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:25458313
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:2841	asthma		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1318014	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15020601|PMID:15593220|PMID:15801036|PMID:16100350|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:17576681|PMID:18263599|PMID:18311798|PMID:19319132|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:22128899|PMID:22377911|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22843550|PMID:22935299|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24431285|PMID:24649046|PMID:24759409|PMID:25038238|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:28744167|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30311386|PMID:30407166|PMID:30568124|PMID:30772614|PMID:30808881|PMID:31057541|PMID:31777803|PMID:32082075|PMID:32199921|PMID:32707200|PMID:34099780|PMID:447320|PMID:49161|PMID:5173311|PMID:9536098
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1318014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:11992256|PMID:16100350|PMID:17178739|PMID:17509468|PMID:18263599|PMID:18311798|PMID:19319132|PMID:20182451|PMID:20472245|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:22128899|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22843550|PMID:22935299|PMID:23442610|PMID:24033266|PMID:24098386|PMID:24158955|PMID:24431285|PMID:24649046|PMID:24759409|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27819323|PMID:27943240|PMID:27943647|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29977033|PMID:30214525|PMID:30245029|PMID:32082075|PMID:32199921|PMID:32707200
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:16100350|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:20159265|PMID:20472245|PMID:21109514|PMID:21356079|PMID:22566169|PMID:22661645|PMID:23421920|PMID:23442610|PMID:24033266|PMID:24123366|PMID:24135410|PMID:24759409|PMID:25038238|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26218404|PMID:26245507|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26931528|PMID:27943240|PMID:27994174|PMID:28137891|PMID:28421071|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:32082075|PMID:32199921|PMID:32707200|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1318015	D	RGD:30309207|PMID:32365944	20200618	RGD			
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:3044	food allergy		ISO	RGD:1318014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19767079
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1318014	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:3345	xanthomatosis	exacerbates	ISO	RGD:1318015	D	RGD:126925206|PMID:30354239	20210514	RGD		associated with atherosclerosis	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:3602	toxic encephalopathy		ISO	RGD:1318014	D	RGD:11554173	20200805	CTD		CTD Direct Evidence: marker/mechanism	PMID:32014472
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318014	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318014	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:480	movement disease		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:557	kidney disease		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26218404|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:5844	myocardial infarction	ameliorates	IEP		D	RGD:242905187|PMID:33389498	20230327	RGD			
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:630	genetic disease		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21058222|PMID:21109514|PMID:24033266|PMID:25741868|PMID:26386126|PMID:28106320|PMID:28492532|PMID:31524846|PMID:32477355|PMID:32707200|PMID:35668534|PMID:37823852
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:6543	acne		ISO	RGD:1318014	D	RGD:11554173	20190312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318014	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:7998	hyperthyroidism		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:83	cataract		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:11992256|PMID:16100350|PMID:17178739|PMID:20472245|PMID:21356079|PMID:23442610|PMID:24759409|PMID:25730877|PMID:25741868|PMID:26245507|PMID:26531310|PMID:26931528|PMID:28492532
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:8553	pyoderma gangrenosum		ISO	RGD:1318014	D	RGD:11554173	20190312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:8778	Crohn's disease		ISO	RGD:1318014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19098911
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9000053	Headache		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Headache	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1318014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25741868
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9000727	Syncope		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9000972	Fever		ISO	RGD:1318014	D	RGD:8554872	20170207	ClinVar		ClinVar Annotator: match by term: Fever	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9001733	Tinnitus		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9004484	Sepsis		ISO	RGD:1318014	D	RGD:11554173	20250603	CTD		CTD Direct Evidence: marker/mechanism	PMID:36627344
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:16100350|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:20159265|PMID:20472245|PMID:21356079|PMID:22566169|PMID:22661645|PMID:23421920|PMID:23442610|PMID:24033266|PMID:24123366|PMID:24135410|PMID:24759409|PMID:25038238|PMID:25596455|PMID:25730877|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26245507|PMID:26467025|PMID:26531310|PMID:26931528|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1318014	D	RGD:11554173	20250603	CTD		CTD Direct Evidence: marker/mechanism	PMID:33012731|PMID:36627344
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9004866	Ataxia		ISO	RGD:1318014	D	RGD:11554173	20200805	CTD		CTD Direct Evidence: marker/mechanism	PMID:32014472
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9005077	Joint Instability		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9005372	Inflammation		ISO	RGD:1318014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12032915|PMID:22325453
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1318014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9006065	Arthralgia		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9006095	Ascites		ISO	RGD:1318014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:25741868
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9007204	Dysbiosis		ISO	RGD:1318014	D	RGD:11554173	20260203	CTD		CTD Direct Evidence: therapeutic	PMID:40602439
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9007278	Anaphylaxis		ISO	RGD:1318014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19767079
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1318014	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35226250
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9007736	Vertigo		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1318014	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35226250
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9008023	Memory Disorders		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9008464	Cryopyrin-Associated Periodic Syndromes		ISO	RGD:1318014	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:11687797|PMID:12032915|PMID:12928894|PMID:25217959
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9008464	Cryopyrin-Associated Periodic Syndromes		ISO	RGD:1318014	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria	PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16802372|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:17513575|PMID:17576681|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24326009|PMID:24431285|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25619352|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25821352|PMID:25866490|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27612399|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28166811|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:28847925|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29611406|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30273710|PMID:30311386|PMID:30407166|PMID:30808881|PMID:31155445|PMID:32082075|PMID:32199921|PMID:33020839|PMID:33329557|PMID:49161|PMID:5173311|PMID:9536098
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9008464	Cryopyrin-Associated Periodic Syndromes		ISO	RGD:1318014	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria	PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12483741|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15334500|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16199547|PMID:16255047|PMID:16646042|PMID:16802372|PMID:16871551|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17284928|PMID:17393462|PMID:17509468|PMID:17513575|PMID:17576681|PMID:18063752|PMID:18080732|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20131254|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:20506209|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21637346|PMID:21702021|PMID:21810457|PMID:22128899|PMID:22146561|PMID:22193915|PMID:22279087|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24326009|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25417688|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25619352|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25866490|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26316056|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27548431|PMID:27612399|PMID:27650144|PMID:27692610|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28501347|PMID:28692792|PMID:28847925|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29152264|PMID:29159471|PMID:29163488|PMID:29239927|PMID:29322034|PMID:29611406|PMID:29922587|PMID:29977033|PMID:29988644|PMID:30069026|PMID:30214525|PMID:30273710|PMID:30311386|PMID:30338413|PMID:30407166|PMID:30431487|PMID:30772614|PMID:30808881|PMID:31135083|PMID:31155445|PMID:31172726|PMID:31442672|PMID:31816408|PMID:31874111|PMID:32082075|PMID:32199921|PMID:32477355|PMID:32490121|PMID:33020839|PMID:33329557|PMID:34099780|PMID:34868041|PMID:35668534|PMID:37368056|PMID:49161|PMID:5173311|PMID:9536098
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9008464	Cryopyrin-Associated Periodic Syndromes		ISO	RGD:1318014	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria	PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12483741|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15334500|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16199547|PMID:16802372|PMID:16871551|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17284928|PMID:17393462|PMID:17509468|PMID:17513575|PMID:17576681|PMID:18063752|PMID:18080732|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20131254|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:20506209|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21637346|PMID:21702021|PMID:21810457|PMID:22128899|PMID:22146561|PMID:22193915|PMID:22279087|PMID:22377911|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24326009|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25417688|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25619352|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25866490|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26316056|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27548431|PMID:27612399|PMID:27650144|PMID:27692610|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27974218|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28501347|PMID:28692792|PMID:28847925|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29152264|PMID:29159471|PMID:29163488|PMID:29239927|PMID:29322034|PMID:29611406|PMID:29922587|PMID:29977033|PMID:29988644|PMID:30069026|PMID:30214525|PMID:30273710|PMID:30311386|PMID:30338413|PMID:30407166|PMID:30431487|PMID:30568124|PMID:30772614|PMID:30808881|PMID:31057541|PMID:31135083|PMID:31155445|PMID:31172726|PMID:31442672|PMID:31777803|PMID:31816408|PMID:31874111|PMID:32082075|PMID:32199921|PMID:32477355|PMID:32490121|PMID:33020839|PMID:33329557|PMID:34099780|PMID:34868041|PMID:35668534|PMID:35753512|PMID:37368056|PMID:49161|PMID:5173311|PMID:9536098
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9008464	Cryopyrin-Associated Periodic Syndromes		ISO	RGD:1318014	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria	PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12483741|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15334500|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16199547|PMID:16802372|PMID:16871551|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17284928|PMID:17393462|PMID:17509468|PMID:17513575|PMID:17576681|PMID:18063752|PMID:18080732|PMID:18084703|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20131254|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:20506209|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21637346|PMID:21702021|PMID:21810457|PMID:22128899|PMID:22146561|PMID:22193915|PMID:22279087|PMID:22377911|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24326009|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24708999|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25417688|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25619352|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25866490|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26316056|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27548431|PMID:27612399|PMID:27650144|PMID:27692610|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27974218|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28185410|PMID:28229991|PMID:28421071|PMID:28492532|PMID:28501347|PMID:28692792|PMID:28744167|PMID:28847925|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29152264|PMID:29159471|PMID:29163488|PMID:29239927|PMID:29322034|PMID:29378952|PMID:29611406|PMID:29922587|PMID:29977033|PMID:29988644|PMID:30069026|PMID:30214525|PMID:30273710|PMID:30311386|PMID:30338413|PMID:30407166|PMID:30431487|PMID:30568124|PMID:30772614|PMID:30808881|PMID:31057541|PMID:31135083|PMID:31155445|PMID:31172726|PMID:31442672|PMID:31777803|PMID:31816408|PMID:31874111|PMID:32082075|PMID:32199921|PMID:32477355|PMID:32490121|PMID:32707200|PMID:33020839|PMID:33329557|PMID:34099780|PMID:34519870|PMID:34868041|PMID:35668534|PMID:35720340|PMID:35753512|PMID:36515421|PMID:37368056|PMID:49161|PMID:5173311|PMID:9536098
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9008464	Cryopyrin-Associated Periodic Syndromes		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria	PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12483741|PMID:14630794|PMID:14872505|PMID:15231984|PMID:15334500|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16199547|PMID:16449034|PMID:16802372|PMID:16871551|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17284928|PMID:17393462|PMID:17513575|PMID:17576681|PMID:18063752|PMID:18080732|PMID:18084703|PMID:19501000|PMID:20131254|PMID:20131270|PMID:20159265|PMID:20472245|PMID:20506209|PMID:21058222|PMID:21109514|PMID:21356079|PMID:21637346|PMID:21702021|PMID:21810457|PMID:22146561|PMID:22193915|PMID:22279087|PMID:22566169|PMID:22661645|PMID:23015306|PMID:23421920|PMID:23432807|PMID:23442610|PMID:24033266|PMID:24123366|PMID:24135410|PMID:24326009|PMID:24365011|PMID:24431285|PMID:24708999|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25417688|PMID:25584041|PMID:25596455|PMID:25619352|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25766347|PMID:25866490|PMID:25883259|PMID:25979514|PMID:25988833|PMID:26020059|PMID:26218404|PMID:26245507|PMID:26316056|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26590045|PMID:26931528|PMID:27134254|PMID:27191192|PMID:27548431|PMID:27650144|PMID:27692610|PMID:27943240|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28229991|PMID:28421071|PMID:28492532|PMID:28501347|PMID:28692792|PMID:28847925|PMID:28956000|PMID:29047407|PMID:29117789|PMID:29152264|PMID:29159471|PMID:29163488|PMID:29239927|PMID:29322034|PMID:29326099|PMID:29342053|PMID:29378952|PMID:29611406|PMID:29922587|PMID:29988644|PMID:30069026|PMID:30273710|PMID:30338413|PMID:30407166|PMID:30431487|PMID:30518920|PMID:30772614|PMID:30808881|PMID:30974290|PMID:31135083|PMID:31155445|PMID:31172726|PMID:31442672|PMID:31816408|PMID:31874111|PMID:32082075|PMID:32199921|PMID:32477355|PMID:32490121|PMID:32707200|PMID:32813153|PMID:33020839|PMID:33165748|PMID:33329557|PMID:34099780|PMID:34416374|PMID:34519870|PMID:34671876|PMID:34868041|PMID:35668534|PMID:35720340|PMID:35874679|PMID:36515421|PMID:37368056|PMID:37644591|PMID:38343435|PMID:38481988|PMID:39930093|PMID:40457054|PMID:49161|PMID:9536098
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9008610	Keratitis Fugax Hereditaria		ISO	RGD:1318014	D	RGD:7240710	20200304	OMIM			
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9008610	Keratitis Fugax Hereditaria		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: KERATOENDOTHELIITIS FUGAX HEREDITARIA | ClinVar Annotator: match by term: Keratitis fugax hereditaria	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:21109514|PMID:21810457|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25417688|PMID:25596455|PMID:25741868|PMID:25979514|PMID:25988833|PMID:26020059|PMID:26386126|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:28956000|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29366613|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:31155445|PMID:31816408|PMID:32490121|PMID:33020839|PMID:34519870|PMID:35874679|PMID:37368056|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9409	diabetes insipidus		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9452	steatotic liver disease	severity	ISO	RGD:1318014	D	RGD:596936226|PMID:32282939	20241230	RGD		mRNA:increased expression:liver (human)	
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:963	episodic ataxia		ISO	RGD:1318014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	PMID:25741868
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9834	hyperopia		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308314	Nlrp3	NLR family, pyrin domain containing 3	gene	DOID:9970	obesity		ISO	RGD:1318014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:22661645|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:25988833|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28137891|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29117789|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:30974290|PMID:35874679|PMID:37644591|PMID:38343435|PMID:39930093|PMID:40457054|PMID:49161
1308315	Nebl	nebulette	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
1308315	Nebl	nebulette	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308315	Nebl	nebulette	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1318016	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:28416822
1308315	Nebl	nebulette	gene	DOID:0060319	cardiac arrest		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cardiac arrest	PMID:25741868|PMID:25987543|PMID:28492532
1308315	Nebl	nebulette	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	
1308315	Nebl	nebulette	gene	DOID:0110308	hypertrophic cardiomyopathy 2		ISO	RGD:1318016	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2	
1308315	Nebl	nebulette	gene	DOID:10534	stomach cancer		ISO	RGD:1318016	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:28492532
1308315	Nebl	nebulette	gene	DOID:1115	sarcoma		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308315	Nebl	nebulette	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:20951326|PMID:24033266|PMID:25741868|PMID:25987543|PMID:28492532
1308315	Nebl	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:27186169|PMID:28166811|PMID:28492532|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:9536098
1308315	Nebl	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:27186169|PMID:28166811|PMID:28492532|PMID:29247119|PMID:29915097|PMID:30206291|PMID:9536098
1308315	Nebl	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28166811|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29915097|PMID:30206291|PMID:9536098
1308315	Nebl	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:9536098
1308315	Nebl	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:33762593|PMID:9536098
1308315	Nebl	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:33762593|PMID:36303204|PMID:9536098
1308315	Nebl	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:16783378|PMID:17576681|PMID:20301718|PMID:20951326|PMID:21735565|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:33762593|PMID:36303204|PMID:9536098
1308315	Nebl	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:33762593|PMID:36303204|PMID:36788754|PMID:9536098
1308315	Nebl	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:20951326|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:28492532|PMID:29247119|PMID:29544605|PMID:29915097|PMID:29961767|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:36303204|PMID:9536098
1308315	Nebl	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:28492532|PMID:29247119|PMID:29544605|PMID:29915097|PMID:29961767|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:36303204|PMID:9536098
1308315	Nebl	nebulette	gene	DOID:12930	dilated cardiomyopathy	susceptibility	ISO	RGD:1318016	D	RGD:1581084|PMID:11140941	19990101	RGD		DNA:missense mutation:cds:p.N654K (human)	
1308315	Nebl	nebulette	gene	DOID:1324	lung cancer		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1308315	Nebl	nebulette	gene	DOID:3275	thymoma		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308315	Nebl	nebulette	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1318016	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	
1308315	Nebl	nebulette	gene	DOID:4362	cervical cancer		ISO	RGD:1318016	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308315	Nebl	nebulette	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308315	Nebl	nebulette	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868
1308315	Nebl	nebulette	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1308315	Nebl	nebulette	gene	DOID:9007820	Sudden Death		ISO	RGD:1318016	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death | ClinVar Annotator: match by term: sudden unexplained death	PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:33762593
1308315	Nebl	nebulette	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308315	Nebl	nebulette	gene	DOID:9256	colorectal cancer		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308316	Nfam1	NFAT activating protein with ITAM motif 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308316	Nfam1	NFAT activating protein with ITAM motif 1	gene	DOID:1115	sarcoma		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308316	Nfam1	NFAT activating protein with ITAM motif 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308316	Nfam1	NFAT activating protein with ITAM motif 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308316	Nfam1	NFAT activating protein with ITAM motif 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308317	Abhd13	abhydrolase domain containing 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308317	Abhd13	abhydrolase domain containing 13	gene	DOID:3275	thymoma		ISO	RGD:1318018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:1115	sarcoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:1324	lung cancer		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:1909	melanoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:3275	thymoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318020	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:5041	esophageal cancer		ISO	RGD:1318020	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1318020	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308318	Mrps5	mitochondrial ribosomal protein S5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308319	Mtcl1	microtubule crosslinking factor 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1348438	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:30548255
1308319	Mtcl1	microtubule crosslinking factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308319	Mtcl1	microtubule crosslinking factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308319	Mtcl1	microtubule crosslinking factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308319	Mtcl1	microtubule crosslinking factor 1	gene	DOID:1441	autosomal dominant cerebellar ataxia		ISO	RGD:1348438	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia	PMID:23902687|PMID:25741868
1308319	Mtcl1	microtubule crosslinking factor 1	gene	DOID:1909	melanoma		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308319	Mtcl1	microtubule crosslinking factor 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1348438	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28166215
1308319	Mtcl1	microtubule crosslinking factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308319	Mtcl1	microtubule crosslinking factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308319	Mtcl1	microtubule crosslinking factor 1	gene	DOID:630	genetic disease		ISO	RGD:1348438	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308319	Mtcl1	microtubule crosslinking factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308319	Mtcl1	microtubule crosslinking factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:0050591	tooth agenesis		ISO	RGD:1318023	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: hypodontia	
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:0060239	Van der Woude syndrome		ISS	RGD:1618154	D	RGD:13592920	20180518	MouseDO		OMIM:119300 | OMIM:606713	
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:0080074	neural tube defect		ISO	RGD:1318023	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:6635991
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:0110213	isolated cleft palate		ISO	RGD:1318023	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Isolated cleft palate	PMID:25741868|PMID:27018475|PMID:28492532
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1318023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:3070	high grade glioma		ISO	RGD:1318023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:3275	thymoma		ISO	RGD:1318023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868|PMID:28492532
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:630	genetic disease		ISO	RGD:1318023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24360809|PMID:28276201|PMID:28492532|PMID:28886269
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:674	cleft palate		ISO	RGD:1318023	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: nonsyndromic cleft palate	PMID:27018475
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:9001916	Fetal Death		ISO	RGD:1318023	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:6635991
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1318023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:24360809|PMID:28276201|PMID:28886269
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:9008934	Van der Woude Syndrome 2		ISO	RGD:1318023	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:9008934	Van der Woude Syndrome 2		ISO	RGD:1318023	D	RGD:7240710	20140319	OMIM			
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:9008934	Van der Woude Syndrome 2		ISO	RGD:1318023	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GRHL3-related condition | ClinVar Annotator: match by term: VAN DER WOUDE SYNDROME 2 | ClinVar Annotator: match by term: Van der Woude syndrome 2	PMID:16199547|PMID:22590528|PMID:22829784|PMID:24033266|PMID:24360809|PMID:25741868|PMID:27018475|PMID:28492532
1308320	Grhl3	grainyhead-like transcription factor 3	gene	DOID:9009396	Van der Woude Syndrome 1		ISO	RGD:1318023	D	RGD:8554872	20251014	ClinVar		ClinVar Annotator: match by term: Van der Woude syndrome 1	PMID:25741868
1308322	Myf5	myogenic factor 5	gene	DOID:9003625	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES		ISO	RGD:1318025	D	RGD:7240710	20210414	OMIM			
1308322	Myf5	myogenic factor 5	gene	DOID:9003625	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES		ISO	RGD:1318025	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYF5-related condition | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES | ClinVar Annotator: match by term: Ophthalmoplegia, external, with rib and vertebral anomalies	PMID:25741868|PMID:28492532
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:10534	stomach cancer		ISO	RGD:1318027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:1059	intellectual disability		ISO	RGD:1318027	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1318027	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:19014429
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:3275	thymoma		ISO	RGD:1318027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:4362	cervical cancer		ISO	RGD:1318027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1318027	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:9003566	Mesothelioma		ISO	RGD:1318027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308323	Uba7	ubiquitin-like modifier activating enzyme 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:10534	stomach cancer		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:1115	sarcoma		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:1324	lung cancer		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:1909	melanoma		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:4362	cervical cancer		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1605374	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308324	Uba6	ubiquitin-like modifier activating enzyme 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308327	Alkbh1	alkB homolog 1, histone H2A dioxygenase	gene	DOID:3070	high grade glioma		ISO	RGD:1318033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308327	Alkbh1	alkB homolog 1, histone H2A dioxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308327	Alkbh1	alkB homolog 1, histone H2A dioxygenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1601880	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308329	Wwc1	WW and C2 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308330	Megf9	multiple EGF-like-domains 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308330	Megf9	multiple EGF-like-domains 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308332	Vps29	VPS29 retromer complex component	gene	DOID:1324	lung cancer		ISO	RGD:1318040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308332	Vps29	VPS29 retromer complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1318040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308332	Vps29	VPS29 retromer complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308332	Vps29	VPS29 retromer complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308333	Eno4	enolase 4	gene	DOID:12336	male infertility		ISO	RGD:1351322	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23446454
1308333	Eno4	enolase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1351322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308334	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308334	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308334	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:1324	lung cancer		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308334	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:3275	thymoma		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308334	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308334	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308334	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308334	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308334	Dpy19l3	dpy-19 like C-mannosyltransferase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308335	Ubxn10	UBX domain protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1318044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308335	Ubxn10	UBX domain protein 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308335	Ubxn10	UBX domain protein 10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308336	Rps6ka5	ribosomal protein S6 kinase A5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308336	Rps6ka5	ribosomal protein S6 kinase A5	gene	DOID:0080600	COVID-19		ISO	RGD:1318046	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308336	Rps6ka5	ribosomal protein S6 kinase A5	gene	DOID:1115	sarcoma		ISO	RGD:1318046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308336	Rps6ka5	ribosomal protein S6 kinase A5	gene	DOID:3275	thymoma		ISO	RGD:1318046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308336	Rps6ka5	ribosomal protein S6 kinase A5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308336	Rps6ka5	ribosomal protein S6 kinase A5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308336	Rps6ka5	ribosomal protein S6 kinase A5	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1318046	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16339038
1308336	Rps6ka5	ribosomal protein S6 kinase A5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308336	Rps6ka5	ribosomal protein S6 kinase A5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308336	Rps6ka5	ribosomal protein S6 kinase A5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308337	Patz1	POZ (BTB) and AT hook containing zinc finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308337	Patz1	POZ (BTB) and AT hook containing zinc finger 1	gene	DOID:1324	lung cancer		ISO	RGD:1318048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308337	Patz1	POZ (BTB) and AT hook containing zinc finger 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308337	Patz1	POZ (BTB) and AT hook containing zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308337	Patz1	POZ (BTB) and AT hook containing zinc finger 1	gene	DOID:9005834	Ependymomas		ISO	RGD:1318048	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1308337	Patz1	POZ (BTB) and AT hook containing zinc finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308338	Stk32a	serine/threonine kinase 32A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308338	Stk32a	serine/threonine kinase 32A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308338	Stk32a	serine/threonine kinase 32A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308338	Stk32a	serine/threonine kinase 32A	gene	DOID:3275	thymoma		ISO	RGD:1318050	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308338	Stk32a	serine/threonine kinase 32A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308338	Stk32a	serine/threonine kinase 32A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308338	Stk32a	serine/threonine kinase 32A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318050	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:10534	stomach cancer		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:1115	sarcoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:1324	lung cancer		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:1909	melanoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:3275	thymoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308340	Pwwp3a	PWWP domain containing 3A, DNA repair factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308341	Ly9	lymphocyte antigen 9	gene	DOID:0080711	multisystem inflammatory syndrome in children		ISO	RGD:1318055	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children	
1308341	Ly9	lymphocyte antigen 9	gene	DOID:10534	stomach cancer		ISO	RGD:1318055	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308341	Ly9	lymphocyte antigen 9	gene	DOID:1909	melanoma		ISO	RGD:1318055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308341	Ly9	lymphocyte antigen 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308341	Ly9	lymphocyte antigen 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308341	Ly9	lymphocyte antigen 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308341	Ly9	lymphocyte antigen 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308343	Cdh9	cadherin 9	gene	DOID:10534	stomach cancer		ISO	RGD:1354185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308343	Cdh9	cadherin 9	gene	DOID:1115	sarcoma		ISO	RGD:1354185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308343	Cdh9	cadherin 9	gene	DOID:12849	autistic disorder		ISO	RGD:1354185	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19404256
1308343	Cdh9	cadherin 9	gene	DOID:3070	high grade glioma		ISO	RGD:1354185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308343	Cdh9	cadherin 9	gene	DOID:4362	cervical cancer		ISO	RGD:1354185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:0050693	Brooke-Spiegler syndrome		ISO	RGD:1319183	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18234730
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:0050693	Brooke-Spiegler syndrome		ISO	RGD:1319183	D	RGD:7240710	20130221	OMIM			
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:0050693	Brooke-Spiegler syndrome		ISO	RGD:1319183	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BROOKE-SPIEGLER SYNDROME | ClinVar Annotator: match by term: Brooke-Spiegler syndrome | ClinVar Annotator: match by term: CYLINDROMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Cylindromatosis, familial | ClinVar Annotator: match by term: Familial cylindromatosis | ClinVar Annotator: match by term: Familial multiple trichoepithelioma | ClinVar Annotator: match by term: Familial multiple trichoepitheliomata	PMID:10835629|PMID:15854031|PMID:19462465|PMID:23249834|PMID:25501176|PMID:25741868|PMID:28492532|PMID:29569226
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:0061187	multiple familial trichoepithelioma 1		ISO	RGD:1319183	D	RGD:7240710	20250903	OMIM			
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:0061187	multiple familial trichoepithelioma 1		ISO	RGD:1319183	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPITHELIOMA, HEREDITARY MULTIPLE BENIGN CYSTIC | ClinVar Annotator: match by term: TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 | ClinVar Annotator: match by term: Trichoepithelioma, multiple familial, 1	PMID:10835629|PMID:15854031|PMID:19462465|PMID:23249834|PMID:25501176|PMID:25741868|PMID:28492532|PMID:29569226
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:11573	listeriosis		ISO	RGD:1319183	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23825949
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:1324	lung cancer		ISO	RGD:1319183	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:2394	ovarian cancer		ISO	RGD:1319183	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:3275	thymoma		ISO	RGD:1319183	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24974848
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1319183	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17043644
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:4362	cervical cancer		ISO	RGD:1319183	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:630	genetic disease		ISO	RGD:1319183	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319183	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21109933
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1319183	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:29477382
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:9004464	Skin Neoplasms	susceptibility	ISO	RGD:1319183	D	RGD:1601033|PMID:10835629	20070404	RGD		familial cylindromatosis, OMIM:132700;DNA:nonsense mutations	
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319183	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:9007226	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8		ISO	RGD:1319183	D	RGD:7240710	20210113	OMIM			
1308346	Cyld	CYLD lysine 63 deubiquitinase	gene	DOID:9007226	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8		ISO	RGD:1319183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	PMID:10835629|PMID:15854031|PMID:19462465|PMID:23249834|PMID:25501176|PMID:25741868|PMID:28492532|PMID:29569226
1308347	Ube2z	ubiquitin-conjugating enzyme E2Z	gene	DOID:10534	stomach cancer		ISO	RGD:1606510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308347	Ube2z	ubiquitin-conjugating enzyme E2Z	gene	DOID:1324	lung cancer		ISO	RGD:1606510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308347	Ube2z	ubiquitin-conjugating enzyme E2Z	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308347	Ube2z	ubiquitin-conjugating enzyme E2Z	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:0050436	mulibrey nanism		ISO	RGD:1318066	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14757854
1308349	Trim37	tripartite motif-containing 37	gene	DOID:0050436	mulibrey nanism		ISO	RGD:1318066	D	RGD:7240710	20130221	OMIM			
1308349	Trim37	tripartite motif-containing 37	gene	DOID:0050436	mulibrey nanism		ISO	RGD:1318066	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MULIBREY NANISM | ClinVar Annotator: match by term: Mulibrey nanism syndrome | ClinVar Annotator: match by term: TRIM37-related condition	PMID:10888877|PMID:15108285|PMID:16199547|PMID:16306379|PMID:17100991|PMID:17551331|PMID:17576681|PMID:21865362|PMID:25525159|PMID:25741868|PMID:27256967|PMID:28492532|PMID:30586926|PMID:31618753|PMID:34687117|PMID:35220664|PMID:36285626|PMID:37528081|PMID:9536098
1308349	Trim37	tripartite motif-containing 37	gene	DOID:0050436	mulibrey nanism		ISS	RGD:1318067	D	RGD:13592920	20230718	MouseDO		OMIM:253250	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:0060058	lymphoma		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:10534	stomach cancer		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:1324	lung cancer		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:1682	congenital heart disease		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
1308349	Trim37	tripartite motif-containing 37	gene	DOID:1909	melanoma		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:4362	cervical cancer		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:630	genetic disease		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308349	Trim37	tripartite motif-containing 37	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1318066	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14757854
1308349	Trim37	tripartite motif-containing 37	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:9007661	Dwarfism		ISO	RGD:1318066	D	RGD:1599667|PMID:10888877	20070212	RGD		Mulibrey Nanism, OMIM:253250	
1308349	Trim37	tripartite motif-containing 37	gene	DOID:9007661	Dwarfism		ISO	RGD:1318066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1308349	Trim37	tripartite motif-containing 37	gene	DOID:9008267	Fibrous Dysplasia of Bone		ISO	RGD:1318066	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14757854
1308349	Trim37	tripartite motif-containing 37	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1318066	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14757854
1308350	Inf2	inverted formin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308350	Inf2	inverted formin 2	gene	DOID:0110205	Charcot-Marie-Tooth disease dominant intermediate E		ISO	RGD:1343033	D	RGD:7240710	20140911	OMIM			
1308350	Inf2	inverted formin 2	gene	DOID:0110205	Charcot-Marie-Tooth disease dominant intermediate E		ISO	RGD:1343033	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate E	PMID:16199547|PMID:17576681|PMID:20023659|PMID:20803156|PMID:21258034|PMID:21866090|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23515051|PMID:24750328|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26248470|PMID:26467025|PMID:27350175|PMID:27549087|PMID:28492532|PMID:28658201|PMID:28780565|PMID:28844315|PMID:29653220|PMID:29869118|PMID:30076350|PMID:30126379|PMID:30373780|PMID:30406062|PMID:30680856|PMID:31328266|PMID:31937884|PMID:32444357|PMID:32451589|PMID:32604935|PMID:33712733|PMID:34120753|PMID:34255403|PMID:35920919|PMID:36413997|PMID:36637069|PMID:36685964|PMID:37464296|PMID:37491439|PMID:9536098
1308350	Inf2	inverted formin 2	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:21866090|PMID:25741868|PMID:26467025|PMID:28492532
1308350	Inf2	inverted formin 2	gene	DOID:0111130	focal segmental glomerulosclerosis 5		ISO	RGD:1343033	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308350	Inf2	inverted formin 2	gene	DOID:0111130	focal segmental glomerulosclerosis 5		ISO	RGD:1343033	D	RGD:7240710	20131030	OMIM			
1308350	Inf2	inverted formin 2	gene	DOID:0111130	focal segmental glomerulosclerosis 5		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 | ClinVar Annotator: match by term: INF2-related condition	PMID:17576681|PMID:20023659|PMID:20803156|PMID:21258034|PMID:21415313|PMID:21866090|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23515051|PMID:23521651|PMID:24750328|PMID:25165188|PMID:25407002|PMID:25676889|PMID:25741868|PMID:25741869|PMID:26086034|PMID:26467025|PMID:26467726|PMID:26764407|PMID:26951353|PMID:27350175|PMID:27549087|PMID:28492532|PMID:29653220|PMID:29869118|PMID:30076350|PMID:30126379|PMID:30373780|PMID:30406062|PMID:30773290|PMID:31328266|PMID:31937884|PMID:32359821|PMID:32444357|PMID:32451589|PMID:32604935|PMID:32887937|PMID:33712733|PMID:34255403|PMID:35683636|PMID:35920919|PMID:36413997|PMID:36624082|PMID:36637069|PMID:37464296|PMID:37491439|PMID:37772439|PMID:9536098
1308350	Inf2	inverted formin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308350	Inf2	inverted formin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:20023659|PMID:20803156|PMID:21258034|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23515051|PMID:23521651|PMID:24174593|PMID:24750328|PMID:25165188|PMID:25407002|PMID:25676889|PMID:25741868|PMID:25943269|PMID:26467025|PMID:27350175|PMID:28492532|PMID:31515790|PMID:31937884|PMID:32444357|PMID:32604935|PMID:36637069|PMID:37491439
1308350	Inf2	inverted formin 2	gene	DOID:1074	kidney failure		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:20023659|PMID:20803156|PMID:21258034|PMID:23014460|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26467025|PMID:27350175|PMID:28492532|PMID:31937884|PMID:32604935
1308350	Inf2	inverted formin 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:29127259
1308350	Inf2	inverted formin 2	gene	DOID:12215	oligohydramnios		ISO	RGD:1343033	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
1308350	Inf2	inverted formin 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1343033	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20023659
1308350	Inf2	inverted formin 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:20023659|PMID:20803156|PMID:21258034|PMID:21866090|PMID:23014460|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26467025|PMID:27350175|PMID:28492532|PMID:30655312|PMID:31937884|PMID:32444357|PMID:32451589|PMID:32604935
1308350	Inf2	inverted formin 2	gene	DOID:1324	lung cancer		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	PMID:23515051|PMID:25741868|PMID:26467025|PMID:28492532
1308350	Inf2	inverted formin 2	gene	DOID:1389	polyneuropathy		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor polyneuropathy	PMID:25741868
1308350	Inf2	inverted formin 2	gene	DOID:1909	melanoma		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308350	Inf2	inverted formin 2	gene	DOID:2921	glomerulonephritis		ISO	RGD:1343033	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Glomerulonephritis	PMID:25741868|PMID:28492532
1308350	Inf2	inverted formin 2	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodic fever syndrome	
1308350	Inf2	inverted formin 2	gene	DOID:3070	high grade glioma		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308350	Inf2	inverted formin 2	gene	DOID:3275	thymoma		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308350	Inf2	inverted formin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308350	Inf2	inverted formin 2	gene	DOID:557	kidney disease		ISO	RGD:1343033	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:20023659|PMID:21258034|PMID:21866090|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30126379|PMID:30406062
1308350	Inf2	inverted formin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308350	Inf2	inverted formin 2	gene	DOID:576	proteinuria		ISO	RGD:1343033	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:20023659|PMID:20803156|PMID:21258034|PMID:23014460|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26467025|PMID:27350175|PMID:28492532|PMID:31937884|PMID:32604935
1308350	Inf2	inverted formin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308350	Inf2	inverted formin 2	gene	DOID:630	genetic disease		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22187985|PMID:22961558|PMID:24750328|PMID:25407002|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28492532|PMID:30126379|PMID:32444357|PMID:36413997|PMID:36637069
1308350	Inf2	inverted formin 2	gene	DOID:784	chronic kidney disease		ISO	RGD:1343033	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532
1308350	Inf2	inverted formin 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1308350	Inf2	inverted formin 2	gene	DOID:9005563	Glomerulopathy with Giant Fibrillar Deposits		ISO	RGD:1343033	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2	PMID:25741868
1308350	Inf2	inverted formin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308350	Inf2	inverted formin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1308350	Inf2	inverted formin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308351	Cdc7	cell division cycle 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308351	Cdc7	cell division cycle 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308351	Cdc7	cell division cycle 7	gene	DOID:1115	sarcoma		ISO	RGD:1318070	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308351	Cdc7	cell division cycle 7	gene	DOID:1324	lung cancer		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308351	Cdc7	cell division cycle 7	gene	DOID:1909	melanoma		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308351	Cdc7	cell division cycle 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1318070	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308351	Cdc7	cell division cycle 7	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1318070	D	RGD:8554872	20190507	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1308351	Cdc7	cell division cycle 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308351	Cdc7	cell division cycle 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308351	Cdc7	cell division cycle 7	gene	DOID:630	genetic disease		ISO	RGD:1318070	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308351	Cdc7	cell division cycle 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308351	Cdc7	cell division cycle 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308352	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308352	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:10534	stomach cancer		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308352	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:1324	lung cancer		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308352	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:2394	ovarian cancer		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308352	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:4362	cervical cancer		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308352	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:5041	esophageal cancer		ISO	RGD:1318072	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308352	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308352	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:6039	uveal melanoma		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308352	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308352	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308352	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308352	Ikbke	inhibitor of nuclear factor kappa B kinase subunit epsilon	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308353	Rab33b	RAB33B, member RAS oncogene family	gene	DOID:0081271	Smith-McCort dysplasia 2		ISO	RGD:1318074	D	RGD:7240710	20140911	OMIM			
1308353	Rab33b	RAB33B, member RAS oncogene family	gene	DOID:0081271	Smith-McCort dysplasia 2		ISO	RGD:1318074	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RAB33B-related condition | ClinVar Annotator: match by term: SMITH-MCCORT DYSPLASIA 2 | ClinVar Annotator: match by term: Smith-McCort dysplasia 2 | ClinVar Annotator: match by term: Smith-McCort dysplasia-2	PMID:25741868|PMID:28127940|PMID:28492532
1308353	Rab33b	RAB33B, member RAS oncogene family	gene	DOID:0081271	Smith-McCort dysplasia 2		ISS	RGD:1318075	D	RGD:13592920	20230824	MouseDO		OMIM:615222	
1308353	Rab33b	RAB33B, member RAS oncogene family	gene	DOID:0112280	spondyloepiphyseal dysplasia		ISO	RGD:1318074	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: spondyloepiphyseal dysplasia	PMID:25741868
1308353	Rab33b	RAB33B, member RAS oncogene family	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1318074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868
1308353	Rab33b	RAB33B, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308353	Rab33b	RAB33B, member RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:1318074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308354	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308354	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:0070486	Parkinson's disease 25		ISO	RGD:1318076	D	RGD:7240710	20230906	OMIM			
1308354	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:0070486	Parkinson's disease 25		ISO	RGD:1318076	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT	
1308354	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:10534	stomach cancer		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308354	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:1115	sarcoma		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308354	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:3070	high grade glioma		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308354	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:4362	cervical cancer		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308354	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308354	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1318076	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1308354	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:9000918	Disease Progression		ISO	RGD:1318076	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1308354	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308354	Ptpa	protein phosphatase 2 phosphatase activator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308355	C8a	complement C8 alpha chain	gene	DOID:0060301	type I complement component 8 deficiency		ISO	RGD:1318077	D	RGD:7240710	20130221	OMIM			
1308355	C8a	complement C8 alpha chain	gene	DOID:0060301	type I complement component 8 deficiency		ISO	RGD:1318077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: C8 ALPHA-GAMMA DEFICIENCY | ClinVar Annotator: match by term: C8A-related condition | ClinVar Annotator: match by term: C8AG DEFICIENCY | ClinVar Annotator: match by term: Type I complement component 8 deficiency	PMID:16199547|PMID:25741868|PMID:28492532|PMID:29148534|PMID:31681265|PMID:35511137|PMID:37771589|PMID:975502|PMID:9759902
1308355	C8a	complement C8 alpha chain	gene	DOID:10534	stomach cancer		ISO	RGD:1318077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1308355	C8a	complement C8 alpha chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308355	C8a	complement C8 alpha chain	gene	DOID:5844	myocardial infarction		IEP		D	RGD:1600501|PMID:7515561	20070322	RGD			
1308355	C8a	complement C8 alpha chain	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1318077	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9759902
1308355	C8a	complement C8 alpha chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16199547|PMID:25741868|PMID:28492532|PMID:9759902
1308355	C8a	complement C8 alpha chain	gene	DOID:9008538	Neisseriaceae Infections		ISO	RGD:1318077	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9759902
1308355	C8a	complement C8 alpha chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1308355	C8a	complement C8 alpha chain	gene	DOID:9471	meningitis		ISO	RGD:1318077	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9759902
1308356	N4bp3	Nedd4 binding protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:4145242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308356	N4bp3	Nedd4 binding protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:4145242	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308356	N4bp3	Nedd4 binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:4145242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308356	N4bp3	Nedd4 binding protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:4145242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308356	N4bp3	Nedd4 binding protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:4145242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308356	N4bp3	Nedd4 binding protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:4145242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308356	N4bp3	Nedd4 binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:4145242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308357	Tfap4	transcription factor AP-4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308357	Tfap4	transcription factor AP-4	gene	DOID:1909	melanoma		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308357	Tfap4	transcription factor AP-4	gene	DOID:3275	thymoma		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308357	Tfap4	transcription factor AP-4	gene	DOID:5041	esophageal cancer		ISO	RGD:1318080	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308357	Tfap4	transcription factor AP-4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308357	Tfap4	transcription factor AP-4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308357	Tfap4	transcription factor AP-4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308357	Tfap4	transcription factor AP-4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308357	Tfap4	transcription factor AP-4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1318082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:10534	stomach cancer		ISO	RGD:1318082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:1115	sarcoma		ISO	RGD:1318082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:1909	melanoma		ISO	RGD:1318082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:3070	high grade glioma		ISO	RGD:1318082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:4079	heart valve disease		ISO	RGD:1318082	D	RGD:11554173	20200211	CTD		CTD Direct Evidence: marker/mechanism	PMID:31844321
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:4362	cervical cancer		ISO	RGD:1318082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:62	aortic valve disease		ISS	RGD:1318083	D	RGD:13592920	20210506	MouseDO			
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:630	genetic disease		ISO	RGD:1318082	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:9001576	CARDIAC VALVULAR DYSPLASIA 2		ISO	RGD:1318082	D	RGD:7240710	20221207	OMIM			
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:9001576	CARDIAC VALVULAR DYSPLASIA 2		ISO	RGD:1318082	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADAMTS19-related condition | ClinVar Annotator: match by term: CARDIAC VALVULAR DYSPLASIA 2 | ClinVar Annotator: match by term: Cardiac valvular dysplasia 2	PMID:25741868
1308359	Adamts19	ADAM metallopeptidase with thrombospondin type 1 motif, 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0050581	brachydactyly		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1318084	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868|PMID:26721934|PMID:28796471|PMID:32109419|PMID:33167890
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318084	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1318084	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0060249	scoliosis		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:37091313
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0060604	ankyloglossia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0061036	autosomal dominant intellectual developmental disorder 63 with macrocephaly		ISO	RGD:1318084	D	RGD:7240710	20200408	OMIM			
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0061036	autosomal dominant intellectual developmental disorder 63 with macrocephaly		ISO	RGD:1318084	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant TRIO-related disorders | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY	PMID:25741868|PMID:26721934|PMID:28492532|PMID:28796471|PMID:32109419|PMID:33167890|PMID:36371492|PMID:36987741
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0070074	autosomal dominant intellectual developmental disorder 44		ISO	RGD:1318084	D	RGD:7240710	20190315	OMIM			
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0070074	autosomal dominant intellectual developmental disorder 44		ISO	RGD:1318084	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY | ClinVar Annotator: match by term: TRIO-related condition | ClinVar Annotator: match by term: TRIO-related disorder	PMID:12551902|PMID:18388777|PMID:22495306|PMID:23033978|PMID:23934111|PMID:24038936|PMID:24896178|PMID:25363768|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28191890|PMID:28492532|PMID:28796471|PMID:28928363|PMID:28973398|PMID:30850274|PMID:31690835|PMID:32109419|PMID:33167890|PMID:36937954|PMID:36987741|PMID:37091313
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0070074	autosomal dominant intellectual developmental disorder 44		ISO	RGD:1318084	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 44 | ClinVar Annotator: match by term: TRIO-Related Disorder | ClinVar Annotator: match by term: TRIO-related condition | ClinVar Annotator: match by term: TRIO-related disorder	PMID:22495306|PMID:25363768|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28191890|PMID:28492532|PMID:28796471|PMID:28928363|PMID:28973398|PMID:32109419|PMID:33167890|PMID:36371492|PMID:36987741
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:25741868|PMID:36987741
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal cortical dysplasia	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0110486	autosomal recessive nonsyndromic deafness 28		ISO	RGD:1318084	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 28	PMID:18452394|PMID:25741868|PMID:28492532|PMID:32109419
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0110486	autosomal recessive nonsyndromic deafness 28		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 28	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0111428	essential tremor 1		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:10534	stomach cancer		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1059	intellectual disability		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:31690835|PMID:32109419
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1059	intellectual disability		ISO	RGD:1318084	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:31690835|PMID:32109419|PMID:36371492|PMID:36987741
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:10907	microcephaly		ISO	RGD:1318084	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:31209962|PMID:31690835|PMID:32109419|PMID:32581362|PMID:36371492|PMID:36987741
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318084	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:10944	tongue disease		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microglossia	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1115	sarcoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:11193	syndactyly		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1283	enterocele		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:10652265|PMID:17391702
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:12849	autistic disorder		ISO	RGD:1318084	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: Autistic disorder	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:12849	autistic disorder		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1324	lung cancer		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	PMID:25741868|PMID:26721934|PMID:28492532
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1459	hypothyroidism		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1657	ventricular septal defect		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1712	aortic valve stenosis		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:25741868|PMID:36987741
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1826	epilepsy		ISO	RGD:1318084	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1827	generalized epilepsy		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:1909	melanoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:2030	anxiety disorder		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10652265|PMID:17391702
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:2394	ovarian cancer		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:2769	tic disorder		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phonic tics	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:2843	long QT syndrome		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prolonged QT interval	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:2846	bruxism		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bruxism	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:3070	high grade glioma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:3081	cystic lymphangioma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:3310	atopic dermatitis		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868|PMID:31209962|PMID:36987741
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:4362	cervical cancer		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:17576681|PMID:28492532|PMID:9536098
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1318084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:535	sleep disorder		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:31209962|PMID:36987741
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:540	strabismus		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:630	genetic disease		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10652265|PMID:17391702|PMID:22397991|PMID:25741868|PMID:26721934|PMID:28492532|PMID:31209962|PMID:32109419|PMID:33004838|PMID:36987741
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:8927	learning disability		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9000343	Vision Disorders		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9000495	Tremor		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9001031	Retrognathia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restlessness	PMID:25741868|PMID:31209962|PMID:36987741
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9001981	Weight Loss		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9002916	Hyperphagia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9003133	Hypertelorism		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:26721934|PMID:28492532
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9003566	Mesothelioma		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318084	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318084	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9004866	Ataxia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Incoordination	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868|PMID:37091313
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318084	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:32109419|PMID:36371492|PMID:36987741
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9005616	Micrognathism		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:26721934|PMID:28492532
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9006637	Schizencephaly		ISO	RGD:1318084	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1318084	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9007573	Flatfoot		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9007845	Encopresis		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encopresis	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental Delay | ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:10652265|PMID:17391702|PMID:25741868|PMID:31209962|PMID:36937954|PMID:36987741
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9008268	Enuresis		ISO	RGD:1318084	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Enuresis	PMID:25741868|PMID:32109419|PMID:36371492|PMID:36987741
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:37091313
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9008582	Developmental Disease		ISO	RGD:1318084	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9008681	Deafness		ISO	RGD:1318084	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:25741868
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318084	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18206229
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:93	language disorder		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9667	placental abruption		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Placental abruption	PMID:23033978|PMID:24038936|PMID:25741868|PMID:26721934|PMID:27418539|PMID:32109419
1308360	Trio	trio Rho guanine nucleotide exchange factor	gene	DOID:9970	obesity		ISO	RGD:1318084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1308361	Ube2l3	ubiquitin-conjugating enzyme E2L 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308361	Ube2l3	ubiquitin-conjugating enzyme E2L 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308361	Ube2l3	ubiquitin-conjugating enzyme E2L 3	gene	DOID:1909	melanoma		ISO	RGD:1318085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308361	Ube2l3	ubiquitin-conjugating enzyme E2L 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318085	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308361	Ube2l3	ubiquitin-conjugating enzyme E2L 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308361	Ube2l3	ubiquitin-conjugating enzyme E2L 3	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1318085	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24162738
1308362	Plekhh1	pleckstrin homology, MyTH4 and FERM domain containing H1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318086	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308363	Txnrd3	thioredoxin reductase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308363	Txnrd3	thioredoxin reductase 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318088	D	RGD:11554173	20230606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36421005
1308363	Txnrd3	thioredoxin reductase 3	gene	DOID:0050860	colorectal adenoma		ISO	RGD:1318088	D	RGD:151665806|PMID:30469315	20220405	RGD		mRNA:increased expression:colorectum (human)	
1308363	Txnrd3	thioredoxin reductase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308363	Txnrd3	thioredoxin reductase 3	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1318088	D	RGD:151665806|PMID:30469315	20220405	RGD		mRNA:increased expression:colorectum (human)	
1308363	Txnrd3	thioredoxin reductase 3	gene	DOID:1115	sarcoma		ISO	RGD:1318088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308363	Txnrd3	thioredoxin reductase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308363	Txnrd3	thioredoxin reductase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318088	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308363	Txnrd3	thioredoxin reductase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308363	Txnrd3	thioredoxin reductase 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308363	Txnrd3	thioredoxin reductase 3	gene	DOID:9008754	Primary Lymphedema with Myelodysplasia		ISO	RGD:1318088	D	RGD:8554872	20210810	ClinVar		ClinVar Annotator: match by term: Emberger syndrome	PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799
1308365	Ssr2	signal sequence receptor subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308365	Ssr2	signal sequence receptor subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308365	Ssr2	signal sequence receptor subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308365	Ssr2	signal sequence receptor subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1318091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308365	Ssr2	signal sequence receptor subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1318091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308365	Ssr2	signal sequence receptor subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1318091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308365	Ssr2	signal sequence receptor subunit 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318091	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1308365	Ssr2	signal sequence receptor subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308366	Rhpn2	rhophilin, Rho GTPase binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308366	Rhpn2	rhophilin, Rho GTPase binding protein 2	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:1318093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile epilepsy syndrome	PMID:25741868
1308366	Rhpn2	rhophilin, Rho GTPase binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308366	Rhpn2	rhophilin, Rho GTPase binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308366	Rhpn2	rhophilin, Rho GTPase binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1318093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308366	Rhpn2	rhophilin, Rho GTPase binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308366	Rhpn2	rhophilin, Rho GTPase binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308366	Rhpn2	rhophilin, Rho GTPase binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318093	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308366	Rhpn2	rhophilin, Rho GTPase binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308366	Rhpn2	rhophilin, Rho GTPase binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308366	Rhpn2	rhophilin, Rho GTPase binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308366	Rhpn2	rhophilin, Rho GTPase binding protein 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318093	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19011631
1308366	Rhpn2	rhophilin, Rho GTPase binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308366	Rhpn2	rhophilin, Rho GTPase binding protein 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1318093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308367	Ermn	ermin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308367	Ermn	ermin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308367	Ermn	ermin	gene	DOID:3275	thymoma		ISO	RGD:1318095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308367	Ermn	ermin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308368	Mgam2	maltase-glucoamylase 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:9849972	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:1318099	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23364794
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:1318099	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome	PMID:16199547|PMID:17576681|PMID:19525956|PMID:20131292|PMID:20358604|PMID:20464292|PMID:20653736|PMID:21102625|PMID:21204240|PMID:22461318|PMID:22973040|PMID:24033266|PMID:24035396|PMID:24183309|PMID:24445253|PMID:24989684|PMID:25604658|PMID:25741868|PMID:26273690|PMID:26431200|PMID:26467025|PMID:27604406|PMID:27943079|PMID:28229507|PMID:28454995|PMID:28492532|PMID:28739201|PMID:29379009|PMID:30275001|PMID:32371413|PMID:32384610|PMID:33683010|PMID:34492268|PMID:35418820|PMID:35418821|PMID:35547545|PMID:35573950|PMID:35590234|PMID:36115319|PMID:37152446|PMID:38368708|PMID:9536098
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:10965	spastic diplegia		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:1324	lung cancer		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:34976810|PMID:35101336
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:1826	epilepsy		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22461318|PMID:25604658|PMID:25741868|PMID:28229507
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:1883	hepatitis C		ISO	RGD:1318099	D	RGD:149735572|PMID:24317272	20210727	RGD		associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human)	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:1909	melanoma		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1318099	D	RGD:8554872	20210309	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:2043	hepatitis B		ISO	RGD:1318099	D	RGD:149735572|PMID:24317272	20210727	RGD		associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human)	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:630	genetic disease		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:19525956|PMID:22461318|PMID:28492532|PMID:29379009|PMID:39031459
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9000761	Deoxyguanosine Kinase Deficiency		ISO	RGD:1318099	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26342080
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9004067	Chilblain Lupus 2		ISO	RGD:1318099	D	RGD:7240710	20140911	OMIM			
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9004067	Chilblain Lupus 2		ISO	RGD:1318099	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chilblain lupus 2 | ClinVar Annotator: match by term: SAMHD1-related condition	PMID:19525956|PMID:20131292|PMID:20358604|PMID:20653736|PMID:21204240|PMID:21402907|PMID:22461318|PMID:22973040|PMID:24033266|PMID:24183309|PMID:25604658|PMID:25741868|PMID:26467025|PMID:27604406|PMID:27943079|PMID:28229507|PMID:28492532|PMID:30275001|PMID:33857133
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9004248	Chilblains		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chilblains	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9005881	Chilblain Lupus 1		ISO	RGD:1318099	D	RGD:11554173	20161213	CTD		CTD Direct Evidence: marker/mechanism	PMID:27566796
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9006262	Cytomegalovirus Infections	exacerbates	ISO	RGD:1318100	D	RGD:149735526|PMID:31548683	20210721	RGD			
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9007867	Aicardi-Goutieres Syndrome 5		ISO	RGD:1318099	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19525956
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9007867	Aicardi-Goutieres Syndrome 5		ISO	RGD:1318099	D	RGD:7240710	20130221	OMIM			
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9007867	Aicardi-Goutieres Syndrome 5		ISO	RGD:1318099	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AICARDI-GOUTIERES SYNDROME 5 | ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5	PMID:16199547|PMID:17576681|PMID:19525956|PMID:20131292|PMID:20358604|PMID:20653736|PMID:21102625|PMID:21204240|PMID:22461318|PMID:22973040|PMID:24033266|PMID:24035396|PMID:24141705|PMID:24183309|PMID:24300241|PMID:25604658|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26504826|PMID:27071091|PMID:27604406|PMID:27643693|PMID:27943079|PMID:28229507|PMID:28454995|PMID:28492532|PMID:28851465|PMID:29239743|PMID:29379009|PMID:29758562|PMID:30275001|PMID:31130681|PMID:31797533|PMID:33307271|PMID:33683010|PMID:33967934|PMID:41496005|PMID:9536098
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9119	acute myeloid leukemia	severity	ISO	RGD:1318099	D	RGD:149735523|PMID:30474474	20210721	RGD		human cell line in mouse model	
1308369	Samhd1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9538	multiple myeloma		ISO	RGD:1318099	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1318101	D	RGD:9590161|PMID:24556744	20141117	RGD		mRNA, protein:increased expression:prostate gland (human)	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:1206	Rett syndrome	severity	ISO	RGD:1558610	D	RGD:9590158|PMID:20869373	20141117	RGD			
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:1318101	D	RGD:9590163|PMID:23055267	20141117	RGD		DNA:missense mutation, deletion:cds:p.P529L, p.P1067del (human)	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:12858	Huntington's disease		ISO	RGD:1318101	D	RGD:9590159|PMID:17142323	20141117	RGD		protein:increased expression:neocortex, caudate nucleus (human)	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:1324	lung cancer	severity	ISO	RGD:1318101	D	RGD:9590160|PMID:23770855	20141117	RGD		human gene in a mouse model	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1318101	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:26928227
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1318101	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983785
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:1909	melanoma	severity	ISO	RGD:1318101	D	RGD:9590162|PMID:24673285	20141117	RGD		protein:increased expression:dermis, subcutis, nucleus (human)	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:3070	high grade glioma	severity	ISO	RGD:1318101	D	RGD:9590166|PMID:23943221	20141117	RGD		protein:increased expression:brain, cell nucleus (human)	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:5419	schizophrenia		ISO	RGD:1318101	D	RGD:9590164|PMID:23815974	20141117	RGD		mRNA:increased expression:parietal cortex, lymphocyte (human)	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318101	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308370	Setdb1	SET domain bifurcated histone lysine methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1603632	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: NADH:Q(1) OXIDOREDUCTASE DEFICIENCY	PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:0112084	nuclear type mitochondrial complex I deficiency 29		ISO	RGD:1603632	D	RGD:7240710	20190315	OMIM			
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:0112084	nuclear type mitochondrial complex I deficiency 29		ISO	RGD:1603632	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 29 | ClinVar Annotator: match by term: TMEM126B-related condition	PMID:17576681|PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717|PMID:38703036|PMID:9536098
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:1115	sarcoma		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:1596	depressive disorder		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:2030	anxiety disorder		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:17576681|PMID:25741868|PMID:27374773|PMID:28492532|PMID:38703036|PMID:9536098
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:3087	gingivitis		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:630	genetic disease		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1603632	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:7998	hyperthyroidism		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:824	periodontitis		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:9001733	Tinnitus		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:9008023	Memory Disorders		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717
1308371	Tmem126b	transmembrane protein 126B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308372	Tnpo1	transportin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308372	Tnpo1	transportin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308372	Tnpo1	transportin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308372	Tnpo1	transportin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308372	Tnpo1	transportin 1	gene	DOID:1115	sarcoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308372	Tnpo1	transportin 1	gene	DOID:1909	melanoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308372	Tnpo1	transportin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308372	Tnpo1	transportin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308372	Tnpo1	transportin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308372	Tnpo1	transportin 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308372	Tnpo1	transportin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308372	Tnpo1	transportin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308372	Tnpo1	transportin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318103	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308372	Tnpo1	transportin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308372	Tnpo1	transportin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308372	Tnpo1	transportin 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308372	Tnpo1	transportin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308372	Tnpo1	transportin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308372	Tnpo1	transportin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308373	Cnrip1	cannabinoid receptor interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308373	Cnrip1	cannabinoid receptor interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308374	Sirt3	sirtuin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308374	Sirt3	sirtuin 3	gene	DOID:0060611	abdominal obesity-metabolic syndrome		ISS	RGD:1318107	D	RGD:13592920	20180518	MouseDO			
1308374	Sirt3	sirtuin 3	gene	DOID:0070310	drug-induced hearing loss		ISO	RGD:1318106	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: therapeutic	PMID:36800006
1308374	Sirt3	sirtuin 3	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	IDA		D	RGD:9586049|PMID:22327056	20140925	RGD		associated with Obesity	
1308374	Sirt3	sirtuin 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1318107|RGD:1318106	D	RGD:9586045|PMID:23139766	20140925	RGD		mRNA:increased expression:brain	
1308374	Sirt3	sirtuin 3	gene	DOID:11714	gestational diabetes		ISO	RGD:1318106	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23956348
1308374	Sirt3	sirtuin 3	gene	DOID:11716	prediabetes syndrome		IEP		D	RGD:9586046|PMID:24361842	20140925	RGD		protein:decreased expression:testis	
1308374	Sirt3	sirtuin 3	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1318106	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472714
1308374	Sirt3	sirtuin 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308374	Sirt3	sirtuin 3	gene	DOID:3275	thymoma		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308374	Sirt3	sirtuin 3	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1318106	D	RGD:11554173	20260303	CTD		CTD Direct Evidence: marker/mechanism	PMID:40840615
1308374	Sirt3	sirtuin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308374	Sirt3	sirtuin 3	gene	DOID:5844	myocardial infarction	treatment	IEP		D	RGD:9586050|PMID:24471974	20140925	RGD			
1308374	Sirt3	sirtuin 3	gene	DOID:6000	congestive heart failure		IEP		D	RGD:9586040|PMID:22155497	20140925	RGD		protein:decreased expression:heart left ventricle	
1308374	Sirt3	sirtuin 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308374	Sirt3	sirtuin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308374	Sirt3	sirtuin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308374	Sirt3	sirtuin 3	gene	DOID:9000307	Presbycusis		IEP		D	RGD:8158103|PMID:24505357	20140210	RGD		protein:decreased expression:auditory cortex:	
1308374	Sirt3	sirtuin 3	gene	DOID:9002500	Hearing Disorders		ISO	RGD:1318106	D	RGD:11554173	20260505	CTD		CTD Direct Evidence: marker/mechanism	PMID:39945816
1308374	Sirt3	sirtuin 3	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1318106	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472714
1308374	Sirt3	sirtuin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308374	Sirt3	sirtuin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308374	Sirt3	sirtuin 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1318106	D	RGD:9586042|PMID:23397292	20140925	RGD		mRNA:decreased expression:pancreatic islet	
1308374	Sirt3	sirtuin 3	gene	DOID:9970	obesity		IEP		D	RGD:9586047|PMID:21901160	20140925	RGD			
1308374	Sirt3	sirtuin 3	gene	DOID:9970	obesity		ISO	RGD:1318106	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23956348
1308377	Slc71a2	solute carrier family 71 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308377	Slc71a2	solute carrier family 71 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308377	Slc71a2	solute carrier family 71 member 2	gene	DOID:1115	sarcoma		ISO	RGD:1606770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308377	Slc71a2	solute carrier family 71 member 2	gene	DOID:1324	lung cancer		ISO	RGD:1606770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308377	Slc71a2	solute carrier family 71 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308377	Slc71a2	solute carrier family 71 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606770	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308377	Slc71a2	solute carrier family 71 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308377	Slc71a2	solute carrier family 71 member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308377	Slc71a2	solute carrier family 71 member 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308377	Slc71a2	solute carrier family 71 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308377	Slc71a2	solute carrier family 71 member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308378	Eri1	exoribonuclease 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308378	Eri1	exoribonuclease 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308378	Eri1	exoribonuclease 1	gene	DOID:0080019	metaphyseal dysplasia		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metaphyseal dysplasia	PMID:25741868|PMID:37352860
1308378	Eri1	exoribonuclease 1	gene	DOID:1115	sarcoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308378	Eri1	exoribonuclease 1	gene	DOID:11193	syndactyly		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:25741868|PMID:37352860
1308378	Eri1	exoribonuclease 1	gene	DOID:13938	amenorrhea		ISO	RGD:1605015	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
1308378	Eri1	exoribonuclease 1	gene	DOID:1909	melanoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308378	Eri1	exoribonuclease 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308378	Eri1	exoribonuclease 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308378	Eri1	exoribonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308378	Eri1	exoribonuclease 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308378	Eri1	exoribonuclease 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308378	Eri1	exoribonuclease 1	gene	DOID:9002288	Hoxha-Aliu syndrome		ISO	RGD:1605015	D	RGD:7240710	20240306	OMIM			
1308378	Eri1	exoribonuclease 1	gene	DOID:9002288	Hoxha-Aliu syndrome		ISO	RGD:1605015	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: HOXHA-ALIU SYNDROME | ClinVar Annotator: match by term: Hoxha-Aliu syndrome	PMID:25741868|PMID:36208065|PMID:37352860
1308378	Eri1	exoribonuclease 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308378	Eri1	exoribonuclease 1	gene	DOID:9005650	Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type		ISO	RGD:1605015	D	RGD:7240710	20240124	OMIM			
1308378	Eri1	exoribonuclease 1	gene	DOID:9005650	Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type		ISO	RGD:1605015	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: ERI1-associated disorder | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Guo-Campeau type	PMID:37352860
1308378	Eri1	exoribonuclease 1	gene	DOID:9005650	Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type		ISO	RGD:1605015	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: ERI1-associated disorder | ClinVar Annotator: match by term: ERI1-related condition | ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Guo-Campeau type	PMID:25741868|PMID:28492532|PMID:37352860
1308378	Eri1	exoribonuclease 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605015	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1308378	Eri1	exoribonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308378	Eri1	exoribonuclease 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308379	Ctrc	chymotrypsin C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308379	Ctrc	chymotrypsin C	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:1318112	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18059268
1308379	Ctrc	chymotrypsin C	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:1318112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic pancreatitis | ClinVar Annotator: match by term: PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: chronic pancreatitis	PMID:18172691|PMID:23951356|PMID:25741868|PMID:28492532
1308379	Ctrc	chymotrypsin C	gene	DOID:0051065	chronic pancreatitis	susceptibility	ISO	RGD:1318112	D	RGD:11064929|PMID:22427236	20260216	RGD		DNA:mutations:cds:p.R254W, p.K247_R254del	
1308379	Ctrc	chymotrypsin C	gene	DOID:3275	thymoma		ISO	RGD:1318112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1308379	Ctrc	chymotrypsin C	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:1318113	D	RGD:713472274|PMID:32900484	20260306	RGD			
1308379	Ctrc	chymotrypsin C	gene	DOID:4362	cervical cancer		ISO	RGD:1318112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308379	Ctrc	chymotrypsin C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1308379	Ctrc	chymotrypsin C	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1308379	Ctrc	chymotrypsin C	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:1318112	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: marker/mechanism	
1308379	Ctrc	chymotrypsin C	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:1318112	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19453252|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:25251442|PMID:25569187|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:27264265|PMID:27409067|PMID:28166811|PMID:28492532|PMID:28497564|PMID:29669919|PMID:30420730|PMID:9536098
1308379	Ctrc	chymotrypsin C	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:1318112	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19404200|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:24002981|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28166811|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098
1308379	Ctrc	chymotrypsin C	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:1318112	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19404200|PMID:19407484|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:24002981|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098
1308379	Ctrc	chymotrypsin C	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:1318112	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:19404200|PMID:19407484|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23686146|PMID:23721890|PMID:23951356|PMID:24002981|PMID:24413785|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098
1308379	Ctrc	chymotrypsin C	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:1318112	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:19404200|PMID:19407484|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23686146|PMID:23721890|PMID:23951356|PMID:24002981|PMID:24052272|PMID:24413785|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28440306|PMID:28492532|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:32833953|PMID:32948427|PMID:33101984|PMID:35171259|PMID:35256061|PMID:37603299|PMID:5256061|PMID:8168476|PMID:9536098
1308379	Ctrc	chymotrypsin C	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:1318112	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:19404200|PMID:19407484|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23686146|PMID:23721890|PMID:23951356|PMID:24002981|PMID:24052272|PMID:24413785|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:27578509|PMID:28440306|PMID:28492532|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:32833953|PMID:32948427|PMID:33101984|PMID:35171259|PMID:35256061|PMID:37603299|PMID:37949771|PMID:5256061|PMID:8168476|PMID:9536098
1308379	Ctrc	chymotrypsin C	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:1318112	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: hereditary chronic pancreatitis	PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:19404200|PMID:19407484|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23686146|PMID:23721890|PMID:23951356|PMID:24002981|PMID:24052272|PMID:24413785|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:26166474|PMID:26599151|PMID:27086061|PMID:27264265|PMID:27409067|PMID:27578509|PMID:28440306|PMID:28492532|PMID:28502372|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:32948427|PMID:33101984|PMID:35171259|PMID:35256061|PMID:35594281|PMID:38876922|PMID:5256061|PMID:8168476|PMID:9536098
1308379	Ctrc	chymotrypsin C	gene	DOID:9008999	Hereditary Pancreatitis	susceptibility	ISO	RGD:1318112	D	RGD:7240710	20230505	OMIM			
1308379	Ctrc	chymotrypsin C	gene	DOID:9256	colorectal cancer		ISO	RGD:1318112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1308380	Trmt44	tRNA methyltransferase 44	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308380	Trmt44	tRNA methyltransferase 44	gene	DOID:1115	sarcoma		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308380	Trmt44	tRNA methyltransferase 44	gene	DOID:1324	lung cancer		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308380	Trmt44	tRNA methyltransferase 44	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308380	Trmt44	tRNA methyltransferase 44	gene	DOID:3275	thymoma		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308380	Trmt44	tRNA methyltransferase 44	gene	DOID:5041	esophageal cancer		ISO	RGD:1602178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308380	Trmt44	tRNA methyltransferase 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308380	Trmt44	tRNA methyltransferase 44	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308380	Trmt44	tRNA methyltransferase 44	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308380	Trmt44	tRNA methyltransferase 44	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308380	Trmt44	tRNA methyltransferase 44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308380	Trmt44	tRNA methyltransferase 44	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308381	Map3k10	mitogen activated protein kinase kinase kinase 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308381	Map3k10	mitogen activated protein kinase kinase kinase 10	gene	DOID:1909	melanoma		ISO	RGD:1318115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308381	Map3k10	mitogen activated protein kinase kinase kinase 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308381	Map3k10	mitogen activated protein kinase kinase kinase 10	gene	DOID:3275	thymoma		ISO	RGD:1318115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308381	Map3k10	mitogen activated protein kinase kinase kinase 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1318115	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308381	Map3k10	mitogen activated protein kinase kinase kinase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308381	Map3k10	mitogen activated protein kinase kinase kinase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308382	Cdc42ep5	CDC42 effector protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308383	Glrx5	glutaredoxin 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308383	Glrx5	glutaredoxin 5	gene	DOID:0060065	autosomal recessive pyridoxine-refractory sideroblastic anemia 2		ISO	RGD:1318119	D	RGD:11554173	20190319	CTD		CTD Direct Evidence: marker/mechanism	
1308383	Glrx5	glutaredoxin 5	gene	DOID:0080343	autosomal recessive pyridoxine-refractory sideroblastic anemia 3		ISO	RGD:1318119	D	RGD:7240710	20190315	OMIM			
1308383	Glrx5	glutaredoxin 5	gene	DOID:0080343	autosomal recessive pyridoxine-refractory sideroblastic anemia 3		ISO	RGD:1318119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 3 | ClinVar Annotator: match by term: Sideroblastic anemia 3	PMID:25741868|PMID:28492532
1308383	Glrx5	glutaredoxin 5	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1318119	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18637800
1308383	Glrx5	glutaredoxin 5	gene	DOID:9001337	Childhood-Onset Spasticity with Hyperglycinemia		ISO	RGD:1318119	D	RGD:7240710	20190315	OMIM			
1308383	Glrx5	glutaredoxin 5	gene	DOID:9001337	Childhood-Onset Spasticity with Hyperglycinemia		ISO	RGD:1318119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLRX5-related condition | ClinVar Annotator: match by term: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA	PMID:25741868
1308384	Dclk2	doublecortin-like kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308384	Dclk2	doublecortin-like kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308384	Dclk2	doublecortin-like kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308384	Dclk2	doublecortin-like kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308384	Dclk2	doublecortin-like kinase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308384	Dclk2	doublecortin-like kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1348460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308384	Dclk2	doublecortin-like kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308384	Dclk2	doublecortin-like kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308384	Dclk2	doublecortin-like kinase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308384	Dclk2	doublecortin-like kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308384	Dclk2	doublecortin-like kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308384	Dclk2	doublecortin-like kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308386	Gdpd3	glycerophosphodiester phosphodiesterase domain containing 3	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1601852	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
1308386	Gdpd3	glycerophosphodiester phosphodiesterase domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1601852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308386	Gdpd3	glycerophosphodiester phosphodiesterase domain containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308386	Gdpd3	glycerophosphodiester phosphodiesterase domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308386	Gdpd3	glycerophosphodiester phosphodiesterase domain containing 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1601852	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308386	Gdpd3	glycerophosphodiester phosphodiesterase domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308386	Gdpd3	glycerophosphodiester phosphodiesterase domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308386	Gdpd3	glycerophosphodiester phosphodiesterase domain containing 3	gene	DOID:9455	lipid storage disease		ISO	RGD:1601852	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15342952|PMID:16919414|PMID:17175557
1308387	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308387	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:0080600	COVID-19		ISO	RGD:1318125	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308387	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:10283	prostate cancer		ISO	RGD:1318125	D	RGD:8554872	20180410	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1308387	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:10283	prostate cancer		ISO	RGD:1318125	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1308387	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308387	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308387	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:1470	major depressive disorder		ISO	RGD:1318125	D	RGD:634888054|PMID:25226551	20260303	RGD		mRNA:decreased expression:blood	
1308387	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:1909	melanoma		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308387	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:3275	thymoma		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308387	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318125	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308387	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308387	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308387	Raph1	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:25741868
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318126	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:0061212	hypocholesteremia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocholesterolemia	PMID:25741868
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:0061215	hepatic fibrosis		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	PMID:25741868
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1318126	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:35654975
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1318126	D	RGD:1581245|PMID:15094225	20180130	RGD			
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:0111062	familial hypobetalipoproteinemia 1		ISO	RGD:1318126	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Apolipoprotein B deficiency | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1	PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16143868|PMID:16199547|PMID:16721486|PMID:17132287|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:31964843|PMID:32041611|PMID:32483926|PMID:33258201|PMID:33994405|PMID:37206948|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:0111062	familial hypobetalipoproteinemia 1		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Apolipoprotein B deficiency	PMID:25741868|PMID:28492532
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:10763	hypertension	onset	ISO	RGD:1318126	D	RGD:1625485|PMID:16328015	20070611	RGD		DNA:polymorphism:promoter:-493G>T	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:1168	familial hyperlipidemia		IEP		D	RGD:1625489|PMID:12191589	20070611	RGD			
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:13250	diarrhea		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:1386	abetalipoproteinemia		ISO	RGD:1318126	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:1386	abetalipoproteinemia		ISO	RGD:1318126	D	RGD:1581043|PMID:14741197	19990101	RGD		DNA:insertion:cds:c.419-420insA (human)	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:1386	abetalipoproteinemia		ISO	RGD:1318126	D	RGD:1581044|PMID:10946006	19990101	RGD		DNA:mutations:cds:multiple (human)	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:1386	abetalipoproteinemia		ISO	RGD:1318126	D	RGD:1581045|PMID:8533758	19990101	RGD		DNA:missense mutations:cds:multiple (human)	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:1386	abetalipoproteinemia		ISO	RGD:1318126	D	RGD:7240710	20190315	OMIM			
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:1386	abetalipoproteinemia		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABETALIPOPROTEINEMIA | ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: MTTP-related condition	PMID:10679949|PMID:10946006|PMID:12630961|PMID:16143868|PMID:16199547|PMID:17275380|PMID:17576681|PMID:18611256|PMID:19066957|PMID:21394827|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:26224785|PMID:27578136|PMID:28492532|PMID:30522860|PMID:30782561|PMID:31914726|PMID:31964843|PMID:32041611|PMID:33258201|PMID:33994405|PMID:37206948|PMID:37484212|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:14221	abdominal obesity-metabolic syndrome 1		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1	PMID:25741868|PMID:28492532
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:1909	melanoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:2018	hyperinsulinism	susceptibility	ISO	RGD:1318126	D	RGD:1625490|PMID:11849654	20070611	RGD		DNA:polymorphism:promoter:-493G>T	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:3275	thymoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1318126	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:5082	liver cirrhosis		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	PMID:25741868
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:5679	retinal disease		ISO	RGD:1318126	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:18027103|PMID:25741868|PMID:27170061|PMID:27487388|PMID:28492532|PMID:33111339
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:630	genetic disease		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1318126	D	RGD:1625487|PMID:15136504	20070611	RGD		DNA:polymorphism:promoter:-493G>T	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:1318126	D	RGD:1625482|PMID:17215532	20070611	RGD			
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9006098	Abetalipoproteinemia Neuropathy		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy	PMID:25741868|PMID:28492532
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Metabolic syndrome X	PMID:25741868|PMID:28492532
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:25741868
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9351	diabetes mellitus		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9452	steatotic liver disease		ISO	RGD:1318126	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17303181
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9452	steatotic liver disease		ISO	RGD:1318126	D	RGD:1625483|PMID:16697730	20070611	RGD		associated with Hepatitis C;mRNA:decreased expression:liver	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9452	steatotic liver disease		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9970	obesity		ISO	RGD:1318126	D	RGD:1625486|PMID:15635487	20070611	RGD		DNA:polymorphisms	
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1318126	D	RGD:9068941	20200609	RGD		DNA:polymorphisms	PMID:15635487|REF_RGD_ID:1625486
1308388	Mttp	microsomal triglyceride transfer protein	gene	DOID:9993	hypoglycemia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
1308389	Zdhhc4	zDHHC palmitoyltransferase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308389	Zdhhc4	zDHHC palmitoyltransferase 4	gene	DOID:0060058	lymphoma		ISO	RGD:1318128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308389	Zdhhc4	zDHHC palmitoyltransferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1318128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308389	Zdhhc4	zDHHC palmitoyltransferase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308389	Zdhhc4	zDHHC palmitoyltransferase 4	gene	DOID:1115	sarcoma		ISO	RGD:1318128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308389	Zdhhc4	zDHHC palmitoyltransferase 4	gene	DOID:1324	lung cancer		ISO	RGD:1318128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308389	Zdhhc4	zDHHC palmitoyltransferase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1318128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308389	Zdhhc4	zDHHC palmitoyltransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308389	Zdhhc4	zDHHC palmitoyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308389	Zdhhc4	zDHHC palmitoyltransferase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308390	Serinc3	serine incorporator 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308390	Serinc3	serine incorporator 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308390	Serinc3	serine incorporator 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308390	Serinc3	serine incorporator 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308390	Serinc3	serine incorporator 3	gene	DOID:1115	sarcoma		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308390	Serinc3	serine incorporator 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308390	Serinc3	serine incorporator 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318130	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308390	Serinc3	serine incorporator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308390	Serinc3	serine incorporator 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308390	Serinc3	serine incorporator 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318130	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1308390	Serinc3	serine incorporator 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:0060949	3-hydroxyisobutryl-CoA hydrolase deficiency		ISO	RGD:1318134	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:0060949	3-hydroxyisobutryl-CoA hydrolase deficiency		ISO	RGD:1318134	D	RGD:7240710	20130221	OMIM			
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:0060949	3-hydroxyisobutryl-CoA hydrolase deficiency		ISO	RGD:1318134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiency | ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency | ClinVar Annotator: match by term: VALINE METABOLIC DEFECT	PMID:16199547|PMID:17160907|PMID:17576681|PMID:24033266|PMID:25251209|PMID:25591832|PMID:25741868|PMID:26026795|PMID:26163321|PMID:26717663|PMID:27435318|PMID:27896122|PMID:28454995|PMID:28492532|PMID:30111474|PMID:31395954|PMID:32022391|PMID:32677093|PMID:33762937|PMID:36200804|PMID:38374194|PMID:38703036|PMID:40400026|PMID:9536098
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:10534	stomach cancer		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:1115	sarcoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:11383	cryptorchidism		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:1324	lung cancer		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:1826	epilepsy		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17160907|PMID:25251209|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:1826	epilepsy		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:1909	melanoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:3275	thymoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:4362	cervical cancer		ISO	RGD:1318134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16199547|PMID:17160907|PMID:25741868|PMID:26163321|PMID:28492532|PMID:40400026
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:4667	kyphosis		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318134	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:540	strabismus		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:5723	optic atrophy		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:630	genetic disease		ISO	RGD:1318134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:33762937|PMID:36200804
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1318134	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:8398	osteoarthritis		ISO	RGD:1318134	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9000495	Tremor		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: failure to thrive	PMID:25741868|PMID:27896122
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9003566	Mesothelioma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9004866	Ataxia		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9007722	Myoclonus		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:16199547|PMID:17160907|PMID:25741868|PMID:26163321|PMID:26717663|PMID:28492532|PMID:30111474|PMID:33762937
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:936	brain disease		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
1308392	Hibch	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
1308393	Fbxo46	F-box protein 46	gene	DOID:5041	esophageal cancer		ISO	RGD:1318136	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308393	Fbxo46	F-box protein 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308393	Fbxo46	F-box protein 46	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308393	Fbxo46	F-box protein 46	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308395	Tp53i11	tumor protein p53 inducible protein 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308395	Tp53i11	tumor protein p53 inducible protein 11	gene	DOID:3275	thymoma		ISO	RGD:1318140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308395	Tp53i11	tumor protein p53 inducible protein 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308395	Tp53i11	tumor protein p53 inducible protein 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308395	Tp53i11	tumor protein p53 inducible protein 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308395	Tp53i11	tumor protein p53 inducible protein 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308396	Nop9	NOP9 nucleolar protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308396	Nop9	NOP9 nucleolar protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308396	Nop9	NOP9 nucleolar protein	gene	DOID:10534	stomach cancer		ISO	RGD:1318142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308396	Nop9	NOP9 nucleolar protein	gene	DOID:4362	cervical cancer		ISO	RGD:1318142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308396	Nop9	NOP9 nucleolar protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318142	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308396	Nop9	NOP9 nucleolar protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308396	Nop9	NOP9 nucleolar protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308396	Nop9	NOP9 nucleolar protein	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1318142	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
1308396	Nop9	NOP9 nucleolar protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308399	Tmem80	transmembrane protein 80	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:405875144	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: KCNQ1-related condition	PMID:21910219|PMID:25427884|PMID:28492532
1308399	Tmem80	transmembrane protein 80	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308400	Chst11	carbohydrate sulfotransferase 11	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318147	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308400	Chst11	carbohydrate sulfotransferase 11	gene	DOID:0060242	synpolydactyly		ISO	RGD:1318147	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: synpolydactyly	
1308400	Chst11	carbohydrate sulfotransferase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308400	Chst11	carbohydrate sulfotransferase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308400	Chst11	carbohydrate sulfotransferase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308400	Chst11	carbohydrate sulfotransferase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308400	Chst11	carbohydrate sulfotransferase 11	gene	DOID:9009343	OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS		ISO	RGD:1318147	D	RGD:7240710	20250529	OMIM			
1308400	Chst11	carbohydrate sulfotransferase 11	gene	DOID:9009343	OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS		ISO	RGD:1318147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHST11-related disorder | ClinVar Annotator: match by term: osteochondrodysplasia, brachydactyly, and overlapping malformed digits	PMID:25741868
1308401	Lyzl4	lysozyme-like 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308401	Lyzl4	lysozyme-like 4	gene	DOID:1909	melanoma		ISO	RGD:1348547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308402	Osbpl5	oxysterol binding protein-like 5	gene	DOID:10534	stomach cancer		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308402	Osbpl5	oxysterol binding protein-like 5	gene	DOID:1115	sarcoma		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308402	Osbpl5	oxysterol binding protein-like 5	gene	DOID:3070	high grade glioma		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308402	Osbpl5	oxysterol binding protein-like 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308402	Osbpl5	oxysterol binding protein-like 5	gene	DOID:4362	cervical cancer		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308402	Osbpl5	oxysterol binding protein-like 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308402	Osbpl5	oxysterol binding protein-like 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308402	Osbpl5	oxysterol binding protein-like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308402	Osbpl5	oxysterol binding protein-like 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308402	Osbpl5	oxysterol binding protein-like 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308402	Osbpl5	oxysterol binding protein-like 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308402	Osbpl5	oxysterol binding protein-like 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:0050950	autosomal recessive cerebellar ataxia		ISO	RGD:1318152	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia	PMID:25741868
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:0060058	lymphoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1		ISO	RGD:1318152	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1	PMID:10874315|PMID:21699693
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1318152	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:28492532|PMID:31680123
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:28492532
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1318152	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1	PMID:25741868|PMID:28492532|PMID:31680123
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:0111611	autosomal recessive spinocerebellar ataxia 4		ISO	RGD:1318152	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:0111611	autosomal recessive spinocerebellar ataxia 4		ISO	RGD:1318152	D	RGD:7240710	20190315	OMIM			
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:0111611	autosomal recessive spinocerebellar ataxia 4		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 24 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 | ClinVar Annotator: match by term: VPS13D-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29518281|PMID:29604224|PMID:31680123|PMID:34906502|PMID:35151251|PMID:36156252|PMID:36768210|PMID:38703036|PMID:9536098
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:10534	stomach cancer		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:1115	sarcoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:25741868|PMID:28492532
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:12849	autistic disorder		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:24776741|PMID:25741868
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:1324	lung cancer		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:1909	melanoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:2394	ovarian cancer		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:3070	high grade glioma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:3275	thymoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:3652	Leigh disease		ISO	RGD:1318152	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:423	myopathy		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:28492532
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:4362	cervical cancer		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:5041	esophageal cancer		ISO	RGD:1318152	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:6039	uveal melanoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:630	genetic disease		ISO	RGD:1318152	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:24776741|PMID:25741868|PMID:28492532|PMID:29518281|PMID:9536098
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:630	genetic disease		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24776741|PMID:25741868|PMID:28492532|PMID:29518281|PMID:33057194|PMID:36156252
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:8619	recurrent hypersomnia		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypersomnia	PMID:25741868|PMID:28492532|PMID:36156252
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318152	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:38160741
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:9004657	Weight Gain		ISO	RGD:1318152	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:9004866	Ataxia		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532|PMID:36156252
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:9006617	Fatigue		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:28492532|PMID:36156252
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exercise intolerance	PMID:25741868|PMID:28492532|PMID:36156252
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24776741|PMID:25741868|PMID:28492532
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1318152	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308403	Vps13d	vacuolar protein sorting 13 homolog D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308404	Acbd4	acyl-CoA binding domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308404	Acbd4	acyl-CoA binding domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308404	Acbd4	acyl-CoA binding domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1318153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308404	Acbd4	acyl-CoA binding domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308404	Acbd4	acyl-CoA binding domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1318153	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308404	Acbd4	acyl-CoA binding domain containing 4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318153	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1308404	Acbd4	acyl-CoA binding domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308404	Acbd4	acyl-CoA binding domain containing 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318153	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308404	Acbd4	acyl-CoA binding domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308404	Acbd4	acyl-CoA binding domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308406	Ncapg2	non-SMC condensin II complex, subunit G2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308406	Ncapg2	non-SMC condensin II complex, subunit G2	gene	DOID:1115	sarcoma		ISO	RGD:1603208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308406	Ncapg2	non-SMC condensin II complex, subunit G2	gene	DOID:1324	lung cancer		ISO	RGD:1603208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308406	Ncapg2	non-SMC condensin II complex, subunit G2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1603208	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:25475535
1308406	Ncapg2	non-SMC condensin II complex, subunit G2	gene	DOID:1909	melanoma		ISO	RGD:1603208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308406	Ncapg2	non-SMC condensin II complex, subunit G2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308406	Ncapg2	non-SMC condensin II complex, subunit G2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603208	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308406	Ncapg2	non-SMC condensin II complex, subunit G2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308406	Ncapg2	non-SMC condensin II complex, subunit G2	gene	DOID:9000330	Khan-Khan-Katsanis Syndrome		ISO	RGD:1603208	D	RGD:7240710	20190626	OMIM			
1308406	Ncapg2	non-SMC condensin II complex, subunit G2	gene	DOID:9000330	Khan-Khan-Katsanis Syndrome		ISO	RGD:1603208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KHAN-KHAN-KATSANIS SYNDROME | ClinVar Annotator: match by term: Khan-Khan-Katsanis syndrome | ClinVar Annotator: match by term: NCAPG2-related condition	PMID:25741868|PMID:28492532
1308406	Ncapg2	non-SMC condensin II complex, subunit G2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308406	Ncapg2	non-SMC condensin II complex, subunit G2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308406	Ncapg2	non-SMC condensin II complex, subunit G2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308407	Tmt1a	thiol methyltransferase 1A	gene	DOID:0080600	COVID-19		ISO	RGD:1601879	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308407	Tmt1a	thiol methyltransferase 1A	gene	DOID:1909	melanoma		ISO	RGD:1601879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308407	Tmt1a	thiol methyltransferase 1A	gene	DOID:289	endometriosis		ISO	RGD:1601879	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1308407	Tmt1a	thiol methyltransferase 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1601879	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308407	Tmt1a	thiol methyltransferase 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308407	Tmt1a	thiol methyltransferase 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308407	Tmt1a	thiol methyltransferase 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308408	Hapln4	hyaluronan and proteoglycan link protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308408	Hapln4	hyaluronan and proteoglycan link protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308408	Hapln4	hyaluronan and proteoglycan link protein 4	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1348635	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1308412	Ankrd34a	ankyrin repeat domain 34A	gene	DOID:0060058	lymphoma		ISO	RGD:1347090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308412	Ankrd34a	ankyrin repeat domain 34A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1347090	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1308413	Krtcap2	keratinocyte associated protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308413	Krtcap2	keratinocyte associated protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308413	Krtcap2	keratinocyte associated protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308413	Krtcap2	keratinocyte associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308413	Krtcap2	keratinocyte associated protein 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1318165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308414	Larp6	La ribonucleoprotein 6, translational regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308415	Sh3rf2	SH3 domain containing ring finger 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308415	Sh3rf2	SH3 domain containing ring finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308415	Sh3rf2	SH3 domain containing ring finger 2	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1318169	D	RGD:13592920	20200611	MouseDO			
1308415	Sh3rf2	SH3 domain containing ring finger 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308415	Sh3rf2	SH3 domain containing ring finger 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308415	Sh3rf2	SH3 domain containing ring finger 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308415	Sh3rf2	SH3 domain containing ring finger 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308415	Sh3rf2	SH3 domain containing ring finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308415	Sh3rf2	SH3 domain containing ring finger 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308416	Jph3	junctophilin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308416	Jph3	junctophilin 3	gene	DOID:0090104	Huntington's disease-like 2		ISO	RGD:1318170	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308416	Jph3	junctophilin 3	gene	DOID:0090104	Huntington's disease-like 2		ISO	RGD:1318170	D	RGD:7240710	20130221	OMIM			
1308416	Jph3	junctophilin 3	gene	DOID:0090104	Huntington's disease-like 2		ISO	RGD:1318170	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Huntington disease-like 2 | ClinVar Annotator: match by term: JPH3-related condition	PMID:25741868|PMID:28492532
1308416	Jph3	junctophilin 3	gene	DOID:1115	sarcoma		ISO	RGD:1318170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308416	Jph3	junctophilin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308416	Jph3	junctophilin 3	gene	DOID:630	genetic disease		ISO	RGD:1318170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308416	Jph3	junctophilin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308416	Jph3	junctophilin 3	gene	DOID:9007980	Sleep Deprivation		ISO	RGD:1318171	D	RGD:6480426|PMID:18077435	20120321	RGD		mRNA:increased expression:brain	
1308416	Jph3	junctophilin 3	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318170	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
1308416	Jph3	junctophilin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308417	Hoxd13	homeo box D13	gene	DOID:0050581	brachydactyly		ISO	RGD:1318172	D	RGD:12743593|PMID:12649808	20170208	RGD		DNA:missense mutations:exon:p.S308C (923C>G), p.I314L (940A>C) (human)	
1308417	Hoxd13	homeo box D13	gene	DOID:0050689	brachydactyly-syndactyly syndrome		ISO	RGD:1318172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24239177
1308417	Hoxd13	homeo box D13	gene	DOID:0050689	brachydactyly-syndactyly syndrome		ISO	RGD:1318172	D	RGD:7240710	20130221	OMIM			
1308417	Hoxd13	homeo box D13	gene	DOID:0050689	brachydactyly-syndactyly syndrome		ISO	RGD:1318172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome | ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome	PMID:22233338|PMID:25741868|PMID:26046366|PMID:28492532|PMID:35574990|PMID:37427568
1308417	Hoxd13	homeo box D13	gene	DOID:0060242	synpolydactyly		ISO	RGD:1318172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Synpolydactyly	PMID:22233338|PMID:25741868|PMID:26046366|PMID:28492532|PMID:35574990|PMID:37427568
1308417	Hoxd13	homeo box D13	gene	DOID:0060242	synpolydactyly		ISS	RGD:1318173	D	RGD:13592920	20180518	MouseDO		OMIM:186000 | OMIM:608180 | OMIM:610234	
1308417	Hoxd13	homeo box D13	gene	DOID:0110967	brachydactyly type A4		ISO	RGD:1318172	D	RGD:12738470|PMID:17236141	20170208	RGD		DNA:deletion:exon:p.A53_A59del (c.157_177del) (human)	
1308417	Hoxd13	homeo box D13	gene	DOID:0110971	brachydactyly type D		ISO	RGD:1318172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24239177
1308417	Hoxd13	homeo box D13	gene	DOID:0110971	brachydactyly type D		ISO	RGD:1318172	D	RGD:7240710	20130221	OMIM			
1308417	Hoxd13	homeo box D13	gene	DOID:0110971	brachydactyly type D		ISO	RGD:1318172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly type D | ClinVar Annotator: match by term: STUB THUMB	PMID:12649808|PMID:15333588|PMID:19075394|PMID:22233338|PMID:22406499|PMID:25741868|PMID:26046366|PMID:28492532|PMID:31870337|PMID:34159400|PMID:34777468|PMID:35574990|PMID:37427568|PMID:8614804|PMID:9207113
1308417	Hoxd13	homeo box D13	gene	DOID:0110972	brachydactyly type E1		ISO	RGD:1318172	D	RGD:7240710	20130221	OMIM			
1308417	Hoxd13	homeo box D13	gene	DOID:0110972	brachydactyly type E1		ISO	RGD:1318172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachydactyly type E1	PMID:22233338|PMID:25741868|PMID:26046366|PMID:28492532|PMID:35574990|PMID:37427568
1308417	Hoxd13	homeo box D13	gene	DOID:0111819	syndactyly type 5		ISO	RGD:1318172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24239177
1308417	Hoxd13	homeo box D13	gene	DOID:0111819	syndactyly type 5		ISO	RGD:1318172	D	RGD:12738470|PMID:17236141	20170206	RGD		DNA:missense mutation:exon:p.Q317R (c.950A>G)	
1308417	Hoxd13	homeo box D13	gene	DOID:0111819	syndactyly type 5		ISO	RGD:1318172	D	RGD:7240710	20130221	OMIM			
1308417	Hoxd13	homeo box D13	gene	DOID:0111819	syndactyly type 5		ISO	RGD:1318172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SYNDACTYLY, TYPE V | ClinVar Annotator: match by term: Syndactyly type 5 | ClinVar Annotator: match by term: Syndactyly, type V	PMID:11543619|PMID:15333588|PMID:19686284|PMID:20974300|PMID:22233338|PMID:24038517|PMID:24343878|PMID:25289061|PMID:25741868|PMID:26046366|PMID:28492532|PMID:32386547|PMID:34094714|PMID:35574990|PMID:37035736|PMID:37427568|PMID:9207113
1308417	Hoxd13	homeo box D13	gene	DOID:10534	stomach cancer		ISO	RGD:1318172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308417	Hoxd13	homeo box D13	gene	DOID:10892	hypospadias		IEP		D	RGD:12743602|PMID:27079746	20170209	RGD		mRNA:decreased expression:male genital tubercle	
1308417	Hoxd13	homeo box D13	gene	DOID:10892	hypospadias		ISO	RGD:1318172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:22233338|PMID:25741868|PMID:26046366|PMID:28492532|PMID:35574990|PMID:37427568
1308417	Hoxd13	homeo box D13	gene	DOID:11193	syndactyly		ISO	RGD:1318172	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	
1308417	Hoxd13	homeo box D13	gene	DOID:11193	syndactyly		ISO	RGD:1318172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:22233338|PMID:25741868|PMID:26046366|PMID:28492532|PMID:35574990|PMID:37427568
1308417	Hoxd13	homeo box D13	gene	DOID:11383	cryptorchidism		ISO	RGD:1318172	D	RGD:12743597|PMID:17216618	20170208	RGD		DNA:splice-site mutation:exon:180A>G (human)	
1308417	Hoxd13	homeo box D13	gene	DOID:1148	polydactyly		ISO	RGD:1318172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:22233338|PMID:25741868|PMID:26046366|PMID:28492532|PMID:35574990|PMID:37427568
1308417	Hoxd13	homeo box D13	gene	DOID:1148	polydactyly		ISO	RGD:1318173	D	RGD:12738144|PMID:17266131	20170209	RGD			
1308417	Hoxd13	homeo box D13	gene	DOID:11836	clubfoot		ISO	RGD:1318172	D	RGD:12743594|PMID:16331564	20170208	RGD		DNA:SNP:exon:rs13392701 (human)	
1308417	Hoxd13	homeo box D13	gene	DOID:1227	neutropenia		ISO	RGD:1318172	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
1308417	Hoxd13	homeo box D13	gene	DOID:12336	male infertility		ISO	RGD:1318172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:22233338|PMID:25741868|PMID:26046366|PMID:28492532|PMID:35574990|PMID:37427568
1308417	Hoxd13	homeo box D13	gene	DOID:14228	oligospermia		ISO	RGD:1318172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:22233338|PMID:25741868|PMID:26046366|PMID:28492532|PMID:35574990|PMID:37427568
1308417	Hoxd13	homeo box D13	gene	DOID:14679	VACTERL association		ISO	RGD:1318172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19006232
1308417	Hoxd13	homeo box D13	gene	DOID:2355	anemia		ISO	RGD:1318172	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
1308417	Hoxd13	homeo box D13	gene	DOID:614	lymphopenia		ISO	RGD:1318172	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
1308417	Hoxd13	homeo box D13	gene	DOID:630	genetic disease		ISO	RGD:1318172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12649808|PMID:22233338|PMID:25741868|PMID:26046366|PMID:28492532|PMID:35574990|PMID:37427568|PMID:9758628
1308417	Hoxd13	homeo box D13	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1318172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
1308417	Hoxd13	homeo box D13	gene	DOID:74	hematopoietic system disease		ISO	RGD:1318172	D	RGD:11554173	20251007	CTD		CTD Direct Evidence: marker/mechanism	PMID:39788167
1308417	Hoxd13	homeo box D13	gene	DOID:9001471	Anorectal Malformations		IEP		D	RGD:12743602|PMID:27079746	20170209	RGD		mRNA:decreased expression:rectum	
1308417	Hoxd13	homeo box D13	gene	DOID:9001471	Anorectal Malformations		IEP		D	RGD:1599527|PMID:17161201	20170208	RGD		mRNA:decreased expression:hindgut	
1308417	Hoxd13	homeo box D13	gene	DOID:9005586	Synpolydactyly 1		ISO	RGD:1318172	D	RGD:11098032|PMID:21814222	20170202	RGD		DNA:nonsense mutation:exon:p.Q248X (c.742C>T) (human)	
1308417	Hoxd13	homeo box D13	gene	DOID:9005586	Synpolydactyly 1		ISO	RGD:1318172	D	RGD:11098055|PMID:24055421	20170202	RGD		DNA:splice-site mutation:intron:c.781+1G>A (human)	
1308417	Hoxd13	homeo box D13	gene	DOID:9005586	Synpolydactyly 1		ISO	RGD:1318172	D	RGD:11098288|PMID:23948678	20170202	RGD		DNA:missense mutation:exon:p.G220A (c.659G>C) (human)	
1308417	Hoxd13	homeo box D13	gene	DOID:9005586	Synpolydactyly 1		ISO	RGD:1318172	D	RGD:11098998|PMID:22374128	20170202	RGD		DNA:missense mutation:exon:p.R298Q (c.893G>A) (human)	
1308417	Hoxd13	homeo box D13	gene	DOID:9005586	Synpolydactyly 1		ISO	RGD:1318172	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:24239177
1308417	Hoxd13	homeo box D13	gene	DOID:9005586	Synpolydactyly 1		ISO	RGD:1318172	D	RGD:12738375|PMID:15952114	20170202	RGD		DNA:insertion:exon	
1308417	Hoxd13	homeo box D13	gene	DOID:9005586	Synpolydactyly 1		ISO	RGD:1318172	D	RGD:12738399|PMID:12620993	20170202	RGD		DNA:missense mutation:exon:p.I314L (940A>C) (human)	
1308417	Hoxd13	homeo box D13	gene	DOID:9005586	Synpolydactyly 1		ISO	RGD:1318172	D	RGD:12743595|PMID:27254532	20170208	RGD		DNA:nonsense mutation:exon:p.R186X (c.556C¿¿¿>¿¿¿T) (human)	
1308417	Hoxd13	homeo box D13	gene	DOID:9005586	Synpolydactyly 1		ISO	RGD:1318172	D	RGD:1599534|PMID:8817328	20070207	RGD		DNA:duplication:CDS	
1308417	Hoxd13	homeo box D13	gene	DOID:9005586	Synpolydactyly 1		ISO	RGD:1318172	D	RGD:7240710	20180822	OMIM			
1308417	Hoxd13	homeo box D13	gene	DOID:9005586	Synpolydactyly 1		ISO	RGD:1318172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SYNPOLYDACTYLY 1 | ClinVar Annotator: match by term: Synpolydactyly type 1	PMID:15333588|PMID:16222680|PMID:22233338|PMID:25741868|PMID:26046366|PMID:28492532|PMID:30408610|PMID:35574990|PMID:37427568|PMID:7666393|PMID:8817328|PMID:9207113
1308417	Hoxd13	homeo box D13	gene	DOID:9005586	Synpolydactyly 1		ISO	RGD:1318173	D	RGD:12738377|PMID:11543619	20170202	RGD		DNA:insertion:exon	
1308417	Hoxd13	homeo box D13	gene	DOID:9005586	Synpolydactyly 1	severity	ISO	RGD:1318172	D	RGD:12743592|PMID:9207113	20170208	RGD		DNA:insertion:exon	
1308417	Hoxd13	homeo box D13	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1318172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8620844
1308417	Hoxd13	homeo box D13	gene	DOID:9006432	Brachydactyly, Type E		ISO	RGD:1318172	D	RGD:12743596|PMID:22233338	20170208	RGD		DNA:nonsense mutation:exon:p.R274X (c.820C>T) (human)	
1308417	Hoxd13	homeo box D13	gene	DOID:9006432	Brachydactyly, Type E		ISO	RGD:1318172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRACHYDACTYLY, TYPE E | ClinVar Annotator: match by term: Brachydactyly type E	PMID:12649808
1308418	Smap2	small ArfGAP2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308418	Smap2	small ArfGAP2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308418	Smap2	small ArfGAP2	gene	DOID:0060058	lymphoma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308418	Smap2	small ArfGAP2	gene	DOID:10534	stomach cancer		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308418	Smap2	small ArfGAP2	gene	DOID:1324	lung cancer		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308418	Smap2	small ArfGAP2	gene	DOID:3070	high grade glioma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308418	Smap2	small ArfGAP2	gene	DOID:3275	thymoma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308418	Smap2	small ArfGAP2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308418	Smap2	small ArfGAP2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601981	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308418	Smap2	small ArfGAP2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308418	Smap2	small ArfGAP2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:0050156	idiopathic pulmonary fibrosis	ameliorates	ISO	RGD:1318175	D	RGD:629006541|PMID:34790776	20251104	RGD		mRNA:decreased expression:respiratory bronchiole	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1318175	D	RGD:628374359|PMID:30539779	20251007	RGD		DNA:SNPs:intron 1:multiple	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:0080815	childhood-onset asthma	susceptibility	ISO	RGD:1318175	D	RGD:626469550|PMID:29282706	20250915	RGD		DNA:polymorphism:rs11071559	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:0080815	childhood-onset asthma	susceptibility	ISO	RGD:1318175	D	RGD:628374357|PMID:23565190	20251007	RGD		DNA:SNPs:intron 1:multiple	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:0080826	nocturnal asthma	susceptibility	ISO	RGD:1318175	D	RGD:628374610|PMID:30927345	20251009	RGD		DNA:SNPs: :multiple	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:1318175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis, type 1	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:12849	autistic disorder		ISO	RGD:1318175	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20375269|PMID:21359227
1308419	Rora	RAR-related orphan receptor A	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1318175	D	RGD:629006536|PMID:31572551	20251104	RGD		mRNA:increased expression:peripheral blood mononuclear cell	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1318175	D	RGD:629006539|PMID:24943193	20251103	RGD		DNA:SNP: :rs8033552	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:3393	coronary artery disease		ISO	RGD:1318175	D	RGD:628374611|PMID:35934844	20251009	RGD		mRNA: decreased expression:blood	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1318175	D	RGD:626469552|PMID:35693292	20250915	RGD		mRNA:decreased expression:lung	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:399	tuberculosis		ISO	RGD:1318175	D	RGD:629006544|PMID:26407584	20251104	RGD		mRNA:increased expression:pleural fluid	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:4481	allergic rhinitis	ameliorates	ISO	RGD:1318175	D	RGD:626469566|PMID:35636076	20250916	RGD		DNA:SNP:multiple:multiple	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:5844	myocardial infarction		ISO	RGD:1318175	D	RGD:626469561|PMID:29399125	20250916	RGD		mRNA:decreased expression:blood	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:630	genetic disease		ISO	RGD:1318175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1318175	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
1308419	Rora	RAR-related orphan receptor A	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:1318175	D	RGD:628374359|PMID:30539779	20251007	RGD		DNA:SNPs:intron 1:multiple	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:9006771	Chronic Rhinosinusitis		ISO	RGD:1318175	D	RGD:629006538|PMID:33115854	20251103	RGD		mRNA, protein:decreased expression:nasal cavity mucosa	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:9009192	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA		ISO	RGD:1318175	D	RGD:7240710	20190315	OMIM			
1308419	Rora	RAR-related orphan receptor A	gene	DOID:9009192	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA		ISO	RGD:1318175	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | ClinVar Annotator: match by term: RORA-related condition	PMID:25741868
1308419	Rora	RAR-related orphan receptor A	gene	DOID:9408	acute myocardial infarction		ISO	RGD:1318175	D	RGD:626469565|PMID:34101510	20250916	RGD		mRNA, protein:increaesed expression:blood	
1308419	Rora	RAR-related orphan receptor A	gene	DOID:9408	acute myocardial infarction		ISO	RGD:1318175	D	RGD:628374608|PMID:33174051	20251009	RGD		mRNA:decreased expression:blood	
1308420	Mcoln3	mucolipin TRP cation channel 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308420	Mcoln3	mucolipin TRP cation channel 3	gene	DOID:1115	sarcoma		ISO	RGD:1318177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308420	Mcoln3	mucolipin TRP cation channel 3	gene	DOID:1909	melanoma		ISO	RGD:1318177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308420	Mcoln3	mucolipin TRP cation channel 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308420	Mcoln3	mucolipin TRP cation channel 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1318177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308420	Mcoln3	mucolipin TRP cation channel 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308420	Mcoln3	mucolipin TRP cation channel 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308420	Mcoln3	mucolipin TRP cation channel 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308421	Cyb5r2	cytochrome b5 reductase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308421	Cyb5r2	cytochrome b5 reductase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308421	Cyb5r2	cytochrome b5 reductase 2	gene	DOID:1909	melanoma		ISO	RGD:1602002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308421	Cyb5r2	cytochrome b5 reductase 2	gene	DOID:3275	thymoma		ISO	RGD:1602002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308421	Cyb5r2	cytochrome b5 reductase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1602002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308421	Cyb5r2	cytochrome b5 reductase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308421	Cyb5r2	cytochrome b5 reductase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:10140	dry eye syndrome		ISO	RGD:1346263	D	RGD:7349375|PMID:22089171	20130923	RGD		protein:increased expression:tear	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:10534	stomach cancer		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:1115	sarcoma		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1346263	D	RGD:7364772|PMID:19122828	20130926	RGD		mRNA, protein:increased expression:conjunctival epithelial cell, tear	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:1324	lung cancer		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:1346263	D	RGD:2325129|PMID:19377061	20100520	RGD		protein:increased expression:serum	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:1909	melanoma		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:2394	ovarian cancer		ISO	RGD:1346263	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: ovarian cancer	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:2394	ovarian cancer	treatment	ISO	RGD:1346263	D	RGD:7364774|PMID:18641636	20130926	RGD			
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:2843	long QT syndrome		ISO	RGD:1346263	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:3275	thymoma		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:4001	ovarian carcinoma		IEP		D	RGD:2325203|PMID:20356397	20100525	RGD			
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:4362	cervical cancer		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346263	D	RGD:2325142|PMID:1653472	20100520	RGD		associated with Opisthorchiasis;protein:increased expression:serum	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:5041	esophageal cancer		ISO	RGD:1346263	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:576	proteinuria		ISO	RGD:1346263	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12169874
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:1346263	D	RGD:2325132|PMID:17542293	20100520	RGD		protein:increased expression:serum	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1346263	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:11706781
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:9002936	Bile Duct Neoplasms		ISO	RGD:1346263	D	RGD:2325134|PMID:1657243	20100520	RGD		protein:increased expression:serum,bile	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1346263	D	RGD:11554173	20200310	CTD		CTD Direct Evidence: marker/mechanism	PMID:29552305
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:9256	colorectal cancer		ISO	RGD:1346263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308422	Muc16	mucin 16, cell surface associated	gene	DOID:9368	keratoconjunctivitis		ISO	RGD:1346263	D	RGD:7364735|PMID:18782111	20130925	RGD		mRNA:increased expression:conjunctival epithelial cell	
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:10534	stomach cancer		ISO	RGD:1318181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:10907	microcephaly		ISO	RGD:1318181	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:1115	sarcoma		ISO	RGD:1318181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:3275	thymoma		ISO	RGD:1318181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318181	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:9007324	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY		ISO	RGD:1318181	D	RGD:7240710	20221221	OMIM			
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:9007324	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY		ISO	RGD:1318181	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY | ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	PMID:25741868|PMID:39169228
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1318181	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	PMID:25741868
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308423	Taf8	TATA-box binding protein associated factor 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308424	Agmat	agmatinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308424	Agmat	agmatinase	gene	DOID:1909	melanoma		ISO	RGD:1318183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308424	Agmat	agmatinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318183	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308424	Agmat	agmatinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308424	Agmat	agmatinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308424	Agmat	agmatinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308426	Hars2	histidyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050857	Perrault syndrome		ISO	RGD:1352732	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Perrault syndrome	PMID:21464306|PMID:25741868|PMID:28492532|PMID:31827252
1308426	Hars2	histidyl-tRNA synthetase 2, mitochondrial	gene	DOID:0061117	Perrault syndrome 2		ISO	RGD:1352732	D	RGD:7240710	20140911	OMIM			
1308426	Hars2	histidyl-tRNA synthetase 2, mitochondrial	gene	DOID:0061117	Perrault syndrome 2		ISO	RGD:1352732	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HARS2-related condition | ClinVar Annotator: match by term: PERRAULT SYNDROME 2 | ClinVar Annotator: match by term: Perrault syndrome 2	PMID:16199547|PMID:21464306|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31449985|PMID:31486067|PMID:31827252|PMID:34416374
1308426	Hars2	histidyl-tRNA synthetase 2, mitochondrial	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352732	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532|PMID:31827252
1308426	Hars2	histidyl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1352732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532|PMID:30311386|PMID:31827252
1308426	Hars2	histidyl-tRNA synthetase 2, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1352732	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308426	Hars2	histidyl-tRNA synthetase 2, mitochondrial	gene	DOID:5041	esophageal cancer		ISO	RGD:1352732	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308426	Hars2	histidyl-tRNA synthetase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308426	Hars2	histidyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1352732	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
1308426	Hars2	histidyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308426	Hars2	histidyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308428	Garre1	granule associated Rac and RHOG effector 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308428	Garre1	granule associated Rac and RHOG effector 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308428	Garre1	granule associated Rac and RHOG effector 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308428	Garre1	granule associated Rac and RHOG effector 1	gene	DOID:1115	sarcoma		ISO	RGD:1318189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308428	Garre1	granule associated Rac and RHOG effector 1	gene	DOID:1324	lung cancer		ISO	RGD:1318189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308428	Garre1	granule associated Rac and RHOG effector 1	gene	DOID:1909	melanoma		ISO	RGD:1318189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308428	Garre1	granule associated Rac and RHOG effector 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308428	Garre1	granule associated Rac and RHOG effector 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318189	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308428	Garre1	granule associated Rac and RHOG effector 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308428	Garre1	granule associated Rac and RHOG effector 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318189	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308428	Garre1	granule associated Rac and RHOG effector 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308428	Garre1	granule associated Rac and RHOG effector 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308428	Garre1	granule associated Rac and RHOG effector 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308428	Garre1	granule associated Rac and RHOG effector 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1318191	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:23541342|PMID:30311386
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050857	Perrault syndrome		ISO	RGD:1318191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Perrault syndrome	PMID:23541342|PMID:30311386
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1318191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1318191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1318191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:5041	esophageal cancer		ISO	RGD:1318191	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1318191	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1318191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532|PMID:36413997
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1318191	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23541342|PMID:24033266|PMID:25741868|PMID:28492532|PMID:36413997
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1318191	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Mitochondrial myopathy	PMID:25741868
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9002027	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA		ISO	RGD:1318191	D	RGD:7240710	20190315	OMIM			
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9002027	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA		ISO	RGD:1318191	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia | ClinVar Annotator: match by term: LARS2-related condition	PMID:24033266|PMID:25741868|PMID:28000701|PMID:28492532|PMID:30737337|PMID:32442335
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004726	Perrault Syndrome 4		ISO	RGD:1318191	D	RGD:7240710	20140911	OMIM			
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004726	Perrault Syndrome 4		ISO	RGD:1318191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PERRAULT SYNDROME 4 | ClinVar Annotator: match by term: Perrault syndrome 4	PMID:23541342|PMID:24033266|PMID:25741868|PMID:26657938|PMID:28492532|PMID:28708303|PMID:29205794|PMID:30311386|PMID:30737337|PMID:32399598|PMID:32442335|PMID:32747562|PMID:32767731|PMID:35982127|PMID:36570450
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308429	Lars2	leucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308430	C15h14orf119	similar to human chromosome 14 open reading frame 119	gene	DOID:0080600	COVID-19		ISO	RGD:1318193	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308430	C15h14orf119	similar to human chromosome 14 open reading frame 119	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308431	Tor1b	torsin family 1, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308431	Tor1b	torsin family 1, member B	gene	DOID:0060058	lymphoma		ISO	RGD:1318195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308431	Tor1b	torsin family 1, member B	gene	DOID:1324	lung cancer		ISO	RGD:1318195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308431	Tor1b	torsin family 1, member B	gene	DOID:4362	cervical cancer		ISO	RGD:1318195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308431	Tor1b	torsin family 1, member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308431	Tor1b	torsin family 1, member B	gene	DOID:9001488	Human Influenza		ISO	RGD:1318195	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1308431	Tor1b	torsin family 1, member B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308432	Mios	meiosis regulator for oocyte development	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308432	Mios	meiosis regulator for oocyte development	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308432	Mios	meiosis regulator for oocyte development	gene	DOID:10534	stomach cancer		ISO	RGD:1601868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308432	Mios	meiosis regulator for oocyte development	gene	DOID:1324	lung cancer		ISO	RGD:1601868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308432	Mios	meiosis regulator for oocyte development	gene	DOID:4362	cervical cancer		ISO	RGD:1601868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308432	Mios	meiosis regulator for oocyte development	gene	DOID:5041	esophageal cancer		ISO	RGD:1601868	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308432	Mios	meiosis regulator for oocyte development	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308432	Mios	meiosis regulator for oocyte development	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308432	Mios	meiosis regulator for oocyte development	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308432	Mios	meiosis regulator for oocyte development	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308432	Mios	meiosis regulator for oocyte development	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308432	Mios	meiosis regulator for oocyte development	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308432	Mios	meiosis regulator for oocyte development	gene	DOID:9256	colorectal cancer		ISO	RGD:1601868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308433	Hsdl1	hydroxysteroid dehydrogenase like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308433	Hsdl1	hydroxysteroid dehydrogenase like 1	gene	DOID:1324	lung cancer		ISO	RGD:1354077	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308433	Hsdl1	hydroxysteroid dehydrogenase like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308433	Hsdl1	hydroxysteroid dehydrogenase like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354077	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308433	Hsdl1	hydroxysteroid dehydrogenase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308433	Hsdl1	hydroxysteroid dehydrogenase like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308434	Psmd5	proteasome 26S subunit, non-ATPase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308434	Psmd5	proteasome 26S subunit, non-ATPase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1318199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308434	Psmd5	proteasome 26S subunit, non-ATPase 5	gene	DOID:1909	melanoma		ISO	RGD:1318199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308434	Psmd5	proteasome 26S subunit, non-ATPase 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308434	Psmd5	proteasome 26S subunit, non-ATPase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1318199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308434	Psmd5	proteasome 26S subunit, non-ATPase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1318199	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308434	Psmd5	proteasome 26S subunit, non-ATPase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308434	Psmd5	proteasome 26S subunit, non-ATPase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308434	Psmd5	proteasome 26S subunit, non-ATPase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318201	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:0060081	triple-negative breast cancer		ISO	RGD:1318201	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Triple-negative breast cancer	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1318201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023247
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1318201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:1883	hepatitis C		ISO	RGD:1318201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023247
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:1909	melanoma		ISO	RGD:1318201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:2043	hepatitis B		ISO	RGD:1318201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023247
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1318201	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:24716982
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318201	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:893	Wilson disease		ISO	RGD:1318201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023247
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1318201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24014025
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1318201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Triple-negative breast cancer	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1318201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24014025
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1318201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19330836|PMID:24014025
1308435	Loxl2	lysyl oxidase-like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308437	Srp19	signal recognition particle 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308437	Srp19	signal recognition particle 19	gene	DOID:0060479	Shwachman-Diamond syndrome		ISO	RGD:1318204	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Shwachman syndrome	
1308437	Srp19	signal recognition particle 19	gene	DOID:1115	sarcoma		ISO	RGD:1318204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308437	Srp19	signal recognition particle 19	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308437	Srp19	signal recognition particle 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308437	Srp19	signal recognition particle 19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308437	Srp19	signal recognition particle 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308437	Srp19	signal recognition particle 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308437	Srp19	signal recognition particle 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308438	Usp5	ubiquitin specific peptidase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308438	Usp5	ubiquitin specific peptidase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308438	Usp5	ubiquitin specific peptidase 5	gene	DOID:1115	sarcoma		ISO	RGD:1318206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308438	Usp5	ubiquitin specific peptidase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1318206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308438	Usp5	ubiquitin specific peptidase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308438	Usp5	ubiquitin specific peptidase 5	gene	DOID:9003566	Mesothelioma		ISO	RGD:1318206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1308438	Usp5	ubiquitin specific peptidase 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308438	Usp5	ubiquitin specific peptidase 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308438	Usp5	ubiquitin specific peptidase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308438	Usp5	ubiquitin specific peptidase 5	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1318206	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1308439	Bcl7c	BAF chromatin remodeling complex subunit BCL7C	gene	DOID:9005834	Ependymomas		ISO	RGD:1318207	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075792
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:0080600	COVID-19		ISO	RGD:1318210	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1318210	D	RGD:631734349|PMID:28668455	20260126	RGD		DNA:SNPs:intron, intron, 3'utr:rs6691216, rs1421396,rs1421389	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1318210	D	RGD:632517842|PMID:20032318	20260129	RGD		DNA:SNP: :rs2786098	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1318210	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21399635
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:12849	autistic disorder		ISO	RGD:1318210	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:1324	lung cancer		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:2841	asthma	severity	ISO	RGD:1318210	D	RGD:631734349|PMID:28668455	20260126	RGD		DNA:SNP:multiple:multiple	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1318210	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:8778	Crohn's disease		ISO	RGD:1318210	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21102463
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:1318210	D	RGD:631734349|PMID:28668455	20260126	RGD		associated with asthma; DNA:SNP:multiple:multiple	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:9003219	Invasive Pulmonary Aspergillosis		ISO	RGD:1318210	D	RGD:632517848|PMID:24712925	20260129	RGD		DNA:SNP: :rs2477077	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:9008727	Ige Responsiveness, Atopic		ISO	RGD:1318210	D	RGD:631734349|PMID:28668455	20260126	RGD		associated with asthma; DNA:SNP:multiple:multiple	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:9256	colorectal cancer		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:9360	intrinsic asthma		ISO	RGD:1318210	D	RGD:631734349|PMID:28668455	20260126	RGD		DNA:SNPs:intron,3'utr:multiple	
1308441	Dennd1b	DENN domain containing 1B	gene	DOID:9415	allergic asthma		ISO	RGD:1318210	D	RGD:631734349|PMID:28668455	20260126	RGD		DNA:SNP:intron:rs6685897	
1308442	Lsm8	LSM8 homolog, U6 small nuclear RNA associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308442	Lsm8	LSM8 homolog, U6 small nuclear RNA associated	gene	DOID:0060058	lymphoma		ISO	RGD:1318211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308442	Lsm8	LSM8 homolog, U6 small nuclear RNA associated	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308442	Lsm8	LSM8 homolog, U6 small nuclear RNA associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308443	Nkx2-2	NK2 homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308443	Nkx2-2	NK2 homeobox 2	gene	DOID:3213	demyelinating disease		IEP		D	RGD:2306244|PMID:15048854	20090327	RGD		protein:increased expression:oligodendrocyte	
1308443	Nkx2-2	NK2 homeobox 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308443	Nkx2-2	NK2 homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308443	Nkx2-2	NK2 homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1318213	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308444	Ugt2a3	UDP glucuronosyltransferase family 2 member A3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1605934	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308444	Ugt2a3	UDP glucuronosyltransferase family 2 member A3	gene	DOID:4362	cervical cancer		ISO	RGD:1605934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308445	Asb6	ankyrin repeat and SOCS box-containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1318216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308445	Asb6	ankyrin repeat and SOCS box-containing 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1318216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308445	Asb6	ankyrin repeat and SOCS box-containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308445	Asb6	ankyrin repeat and SOCS box-containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308446	Zdhhc22	zDHHC palmitoyltransferase 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308447	Rab25	RAB25, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308447	Rab25	RAB25, member RAS oncogene family	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1318219	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577
1308447	Rab25	RAB25, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308447	Rab25	RAB25, member RAS oncogene family	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318219	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308447	Rab25	RAB25, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308448	Plcxd3	phosphatidylinositol-specific phospholipase C, X domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308448	Plcxd3	phosphatidylinositol-specific phospholipase C, X domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1604168	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308448	Plcxd3	phosphatidylinositol-specific phospholipase C, X domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604168	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308449	Septin8	septin 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308449	Septin8	septin 8	gene	DOID:1909	melanoma		ISO	RGD:1318222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308449	Septin8	septin 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308449	Septin8	septin 8	gene	DOID:2394	ovarian cancer		ISO	RGD:1318222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308449	Septin8	septin 8	gene	DOID:4362	cervical cancer		ISO	RGD:1318222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308449	Septin8	septin 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1318222	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308449	Septin8	septin 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308450	Sgo2	shugoshin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308450	Sgo2	shugoshin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308450	Sgo2	shugoshin 2	gene	DOID:1115	sarcoma		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308450	Sgo2	shugoshin 2	gene	DOID:1909	melanoma		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308450	Sgo2	shugoshin 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308450	Sgo2	shugoshin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308450	Sgo2	shugoshin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318224	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308450	Sgo2	shugoshin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308450	Sgo2	shugoshin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308450	Sgo2	shugoshin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308451	Zfp217	zinc finger protein 217	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1318226	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581250
1308451	Zfp217	zinc finger protein 217	gene	DOID:10534	stomach cancer		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308451	Zfp217	zinc finger protein 217	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308451	Zfp217	zinc finger protein 217	gene	DOID:1909	melanoma		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308451	Zfp217	zinc finger protein 217	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308451	Zfp217	zinc finger protein 217	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318226	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308451	Zfp217	zinc finger protein 217	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308452	Baiap2l1	BAR/IMD domain containing adaptor protein 2 like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308452	Baiap2l1	BAR/IMD domain containing adaptor protein 2 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352215	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308452	Baiap2l1	BAR/IMD domain containing adaptor protein 2 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308452	Baiap2l1	BAR/IMD domain containing adaptor protein 2 like 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1352215	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
1308453	Rbx1	ring-box 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1318229	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
1308453	Rbx1	ring-box 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308453	Rbx1	ring-box 1	gene	DOID:1909	melanoma		ISO	RGD:1318229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308453	Rbx1	ring-box 1	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:405874299	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Rubinstein-Taybi syndrome	PMID:28492532
1308453	Rbx1	ring-box 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308453	Rbx1	ring-box 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308454	Potec	POTE ankyrin domain family, member C	gene	DOID:1324	lung cancer		ISO	RGD:2291751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308455	Tmx1	thioredoxin-related transmembrane protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308455	Tmx1	thioredoxin-related transmembrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308455	Tmx1	thioredoxin-related transmembrane protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1318232	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1308455	Tmx1	thioredoxin-related transmembrane protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308455	Tmx1	thioredoxin-related transmembrane protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308455	Tmx1	thioredoxin-related transmembrane protein 1	gene	DOID:1909	melanoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308455	Tmx1	thioredoxin-related transmembrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308455	Tmx1	thioredoxin-related transmembrane protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308455	Tmx1	thioredoxin-related transmembrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308455	Tmx1	thioredoxin-related transmembrane protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308456	Kirrel2	kirre like nephrin family adhesion molecule 2	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:1318234	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 1 | ClinVar Annotator: match by term: NPHS1-related condition	PMID:11317351|PMID:11854170|PMID:12039988|PMID:15338398|PMID:15906409|PMID:17576681|PMID:18436095|PMID:18503012|PMID:19406966|PMID:20172850|PMID:20507940|PMID:22584503|PMID:23949594|PMID:25741868|PMID:26467025|PMID:27594755|PMID:28117080|PMID:28476686|PMID:28492532|PMID:29127259|PMID:30963316|PMID:31216994|PMID:33893808|PMID:9536098|PMID:9660941|PMID:9915943
1308456	Kirrel2	kirre like nephrin family adhesion molecule 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308456	Kirrel2	kirre like nephrin family adhesion molecule 2	gene	DOID:1115	sarcoma		ISO	RGD:1318234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308456	Kirrel2	kirre like nephrin family adhesion molecule 2	gene	DOID:1826	epilepsy		ISO	RGD:1318234	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868
1308456	Kirrel2	kirre like nephrin family adhesion molecule 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308456	Kirrel2	kirre like nephrin family adhesion molecule 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308456	Kirrel2	kirre like nephrin family adhesion molecule 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:3070	high grade glioma		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318236	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:543	dystonia		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308457	Orc3	origin recognition complex, subunit 3	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1308458	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308458	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:10534	stomach cancer		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308458	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308458	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:1324	lung cancer		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308458	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:1909	melanoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308458	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308458	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:3275	thymoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308458	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308458	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308458	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308458	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308458	Dcaf13	DDB1 and CUL4 associated factor 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308460	Rnf149	ring finger protein 149	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308460	Rnf149	ring finger protein 149	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308460	Rnf149	ring finger protein 149	gene	DOID:3275	thymoma		ISO	RGD:1318240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308460	Rnf149	ring finger protein 149	gene	DOID:5041	esophageal cancer		ISO	RGD:1318240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308460	Rnf149	ring finger protein 149	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308460	Rnf149	ring finger protein 149	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308460	Rnf149	ring finger protein 149	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308461	Meak7	MTOR associated protein MEAK7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308461	Meak7	MTOR associated protein MEAK7	gene	DOID:1115	sarcoma		ISO	RGD:1605650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308461	Meak7	MTOR associated protein MEAK7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308461	Meak7	MTOR associated protein MEAK7	gene	DOID:5041	esophageal cancer		ISO	RGD:1605650	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308461	Meak7	MTOR associated protein MEAK7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308461	Meak7	MTOR associated protein MEAK7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605650	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308461	Meak7	MTOR associated protein MEAK7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308461	Meak7	MTOR associated protein MEAK7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308461	Meak7	MTOR associated protein MEAK7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308463	Imp4	IMP U3 small nucleolar ribonucleoprotein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308463	Imp4	IMP U3 small nucleolar ribonucleoprotein 4	gene	DOID:0060058	lymphoma		ISO	RGD:1605599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308463	Imp4	IMP U3 small nucleolar ribonucleoprotein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1605599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308463	Imp4	IMP U3 small nucleolar ribonucleoprotein 4	gene	DOID:1115	sarcoma		ISO	RGD:1605599	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308463	Imp4	IMP U3 small nucleolar ribonucleoprotein 4	gene	DOID:1324	lung cancer		ISO	RGD:1605599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308463	Imp4	IMP U3 small nucleolar ribonucleoprotein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308463	Imp4	IMP U3 small nucleolar ribonucleoprotein 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308463	Imp4	IMP U3 small nucleolar ribonucleoprotein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308463	Imp4	IMP U3 small nucleolar ribonucleoprotein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308463	Imp4	IMP U3 small nucleolar ribonucleoprotein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308463	Imp4	IMP U3 small nucleolar ribonucleoprotein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308464	Tcf15	transcription factor 15	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1318246	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:10609	rickets		ISO	RGD:1318250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rickets	PMID:12204010|PMID:18752449|PMID:19863563|PMID:21786142|PMID:25741868|PMID:27102039|PMID:28238446|PMID:28276207|PMID:28492532|PMID:30849045|PMID:33532864|PMID:35006361|PMID:35738466|PMID:9537412|PMID:9792862
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1062	Fanconi syndrome		IMP		D	RGD:155630629|PMID:35695380	20230221	RGD			
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis		IMP		D	RGD:155630629|PMID:35695380	20230221	RGD			
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis		ISO	RGD:1318250	D	RGD:11064664|PMID:9792862	20170627	RGD		DNA:mutations:multiple (human)	
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis		ISO	RGD:1318250	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15879904
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis		ISO	RGD:1318250	D	RGD:12910865|PMID:10068513	20170627	RGD		DNA:deletion:exons, introns (human)	
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis		ISO	RGD:1318250	D	RGD:12910936|PMID:11565547	20170628	RGD		DNA:missense mutation:cds:p.G339R (human)	
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis		ISO	RGD:1318250	D	RGD:7240710	20131030	OMIM			
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis		ISO	RGD:1318250	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: CYSTINOSIN, DEFECT OF | ClinVar Annotator: match by term: Cystine diathesis | ClinVar Annotator: match by term: Cystinoses | ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis | ClinVar Annotator: match by term: Cystinosis, atypical nephropathic | ClinVar Annotator: match by term: LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF | ClinVar Annotator: match by term: Lysosomal cystine transport protein, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis	PMID:10068513|PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19580442|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:21963264|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24385851|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27451386|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29127259|PMID:29421779|PMID:29467429|PMID:30214781|PMID:30554218|PMID:30609409|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35513889|PMID:35524314|PMID:35571017|PMID:35738466|PMID:9536098|PMID:9537412|PMID:9792862
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis		ISO	RGD:1318250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cystinoses | ClinVar Annotator: match by term: Cystinosis | ClinVar Annotator: match by term: LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF | ClinVar Annotator: match by term: Nephropathic cystinosis | ClinVar Annotator: match by term: cystinosis	PMID:10068513|PMID:10444339|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:11528232|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18752449|PMID:19580442|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:21305353|PMID:21786142|PMID:22450360|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:26994576|PMID:27102039|PMID:27151922|PMID:27533158|PMID:27625850|PMID:27734949|PMID:28238446|PMID:28276207|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:29127259|PMID:29421779|PMID:30554218|PMID:30609409|PMID:30849045|PMID:31672123|PMID:33532864|PMID:35006361|PMID:35524314|PMID:35738466|PMID:36117148|PMID:36941667|PMID:9536098|PMID:9537412|PMID:9792862
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis		ISO	RGD:1318251	D	RGD:12910868|PMID:12370309	20170627	RGD			
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis		ISS	RGD:1318251	D	RGD:13592920	20230718	MouseDO		OMIM:219750 | OMIM:219800 | OMIM:219900	
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis	susceptibility	ISO	RGD:1318250	D	RGD:1601022|PMID:9537412	20070403	RGD		DNA:mutations:multiple (human)	
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1064	cystinosis	treatment	ISO	RGD:1318250	D	RGD:12910866|PMID:18578013	20170627	RGD		human gene in a mouse model	
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:11782	astigmatism		ISO	RGD:1318250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:12204010|PMID:18752449|PMID:19863563|PMID:21786142|PMID:25741868|PMID:27102039|PMID:28238446|PMID:28276207|PMID:28492532|PMID:30849045|PMID:33532864|PMID:35006361|PMID:35738466|PMID:9537412|PMID:9792862
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:14219	renal tubular acidosis		ISO	RGD:1318250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Renal tubular acidosis	PMID:12204010|PMID:18752449|PMID:19863563|PMID:21786142|PMID:25741868|PMID:27102039|PMID:28238446|PMID:28276207|PMID:28492532|PMID:30849045|PMID:33532864|PMID:35006361|PMID:35738466|PMID:9537412|PMID:9792862
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1459	hypothyroidism		ISO	RGD:1318250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:12204010|PMID:18752449|PMID:19863563|PMID:21786142|PMID:25741868|PMID:27102039|PMID:28238446|PMID:28276207|PMID:28492532|PMID:30849045|PMID:33532864|PMID:35006361|PMID:35738466|PMID:9537412|PMID:9792862
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:1909	melanoma		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:630	genetic disease		ISO	RGD:1318250	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:26655004|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29421779|PMID:29467429|PMID:30214781|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35513889|PMID:35571017|PMID:35738466|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:630	genetic disease		ISO	RGD:1318250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10444339|PMID:10556299|PMID:10625078|PMID:10673275|PMID:11565547|PMID:11689434|PMID:12204010|PMID:12442267|PMID:12825071|PMID:15128704|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21786142|PMID:22664570|PMID:23640116|PMID:24464559|PMID:25326109|PMID:25640679|PMID:25741868|PMID:26266097|PMID:26565940|PMID:26655004|PMID:27102039|PMID:27734949|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28793998|PMID:28893421|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33822926|PMID:35006361|PMID:35524314|PMID:35571017|PMID:35738466|PMID:36941667|PMID:9536098|PMID:9537412|PMID:9792862
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:6543	acne		ISO	RGD:1318250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acne	PMID:12204010|PMID:18752449|PMID:19863563|PMID:21786142|PMID:25741868|PMID:27102039|PMID:28238446|PMID:28276207|PMID:28492532|PMID:30849045|PMID:33532864|PMID:35006361|PMID:35738466|PMID:9537412|PMID:9792862
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:783	end stage renal disease		ISO	RGD:1318250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:12204010|PMID:18752449|PMID:19863563|PMID:21786142|PMID:25741868|PMID:27102039|PMID:28238446|PMID:28276207|PMID:28492532|PMID:30849045|PMID:33532864|PMID:35006361|PMID:35738466|PMID:9537412|PMID:9792862
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:25741868
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9002476	Infantile Nephropathic Cystinosis		ISO	RGD:1318250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Infantile nephropathic cystinosis	PMID:12204010|PMID:18752449|PMID:19863563|PMID:21786142|PMID:25741868|PMID:27102039|PMID:28238446|PMID:28276207|PMID:28492532|PMID:30849045|PMID:33532864|PMID:35006361|PMID:35738466|PMID:9537412|PMID:9792862
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9002525	Hereditary Eye Diseases	treatment	ISO	RGD:1318250	D	RGD:11354731|PMID:26540660	20170627	RGD		associated with Cystinosis;human gene in a mouse model	
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9002714	Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type		ISO	RGD:1318250	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9002714	Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type		ISO	RGD:1318250	D	RGD:7240710	20130221	OMIM			
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9002714	Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type		ISO	RGD:1318250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE	PMID:10444339|PMID:10556299|PMID:10625078|PMID:12204010|PMID:15128704|PMID:18752449|PMID:19863563|PMID:20061170|PMID:20301574|PMID:21786142|PMID:25741868|PMID:26266097|PMID:27102039|PMID:27734949|PMID:28238446|PMID:28276207|PMID:28492532|PMID:30554218|PMID:30849045|PMID:33532864|PMID:35006361|PMID:35524314|PMID:35738466|PMID:36941667|PMID:9537412|PMID:9792862
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9004409	Abderhalden-Kaufmann-Lignac Syndrome		ISO	RGD:1318250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome	PMID:12204010|PMID:18752449|PMID:19863563|PMID:21786142|PMID:25741868|PMID:27102039|PMID:28238446|PMID:28276207|PMID:28492532|PMID:30849045|PMID:31672123|PMID:33532864|PMID:35006361|PMID:35738466|PMID:9537412|PMID:9792862
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1318250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9007952	Cystinosis, Ocular Nonnephropathic		ISO	RGD:1318250	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9007952	Cystinosis, Ocular Nonnephropathic		ISO	RGD:1318250	D	RGD:12910937|PMID:10625078	20170628	RGD		DNA:deletions, snps, missense mutation:multiple (human)	
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9007952	Cystinosis, Ocular Nonnephropathic		ISO	RGD:1318250	D	RGD:7240710	20130221	OMIM			
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9007952	Cystinosis, Ocular Nonnephropathic		ISO	RGD:1318250	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cystinosis, adult, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic	PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:33532864|PMID:33822926|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862
1308466	Ctns	cystinosin, lysosomal cystine transporter	gene	DOID:9007952	Cystinosis, Ocular Nonnephropathic		ISO	RGD:1318250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CYSTINOSIS, OCULAR NONNEPHROPATHIC | ClinVar Annotator: match by term: Ocular cystinosis	PMID:10556299|PMID:10625078|PMID:12204010|PMID:16199547|PMID:18752449|PMID:19863563|PMID:20061170|PMID:20301574|PMID:21786142|PMID:25741868|PMID:26266097|PMID:27102039|PMID:27734949|PMID:28238446|PMID:28276207|PMID:28492532|PMID:30554218|PMID:30849045|PMID:31672123|PMID:33532864|PMID:35006361|PMID:35524314|PMID:35738466|PMID:36941667|PMID:9537412|PMID:9792862
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1318252	D	RGD:632518397|PMID:20717939	20260212	RGD		DNA:SNPs, haplotype:intron:rs7996994, rs7323716	
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1318252	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:27486781|PMID:28492532
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:1205	allergic disease		ISO	RGD:1318252	D	RGD:632518397|PMID:20717939	20260212	RGD		DNA:SNP, haplotype: :rs3794379	
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:1909	melanoma		ISO	RGD:1318252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318252	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:7765	Coats disease		ISO	RGD:1318252	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Coats disease	PMID:16199547|PMID:25741868|PMID:26908610|PMID:28492532|PMID:31494449|PMID:33104391
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1318252	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:9002248	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES		ISO	RGD:1318252	D	RGD:7240710	20190315	OMIM			
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:9002248	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES		ISO	RGD:1318252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RCBTB1-related condition | ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES | ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES | ClinVar Annotator: match by term: Retinal dystrophy with or without extraocular anomalies	PMID:17576681|PMID:25741868|PMID:27486781|PMID:28492532|PMID:32531858|PMID:9536098
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308467	Rcbtb1	RCC1 and BTB domain containing protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348373	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:10283	prostate cancer		ISO	RGD:1348373	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:10283	prostate cancer		ISO	RGD:1348373	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:1115	sarcoma		ISO	RGD:1348373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:1324	lung cancer		ISO	RGD:1348373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:2394	ovarian cancer		ISO	RGD:1348373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:4362	cervical cancer		ISO	RGD:1348373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:5041	esophageal cancer		ISO	RGD:1348373	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348373	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308468	Nmd3	NMD3 ribosome export adaptor	gene	DOID:9256	colorectal cancer		ISO	RGD:1348373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308469	Rpl7l1	ribosomal protein L7-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308469	Rpl7l1	ribosomal protein L7-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308469	Rpl7l1	ribosomal protein L7-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308469	Rpl7l1	ribosomal protein L7-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308469	Rpl7l1	ribosomal protein L7-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308469	Rpl7l1	ribosomal protein L7-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308470	Gskip	GSK3B interacting protein	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1318256	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26280900
1308470	Gskip	GSK3B interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308470	Gskip	GSK3B interacting protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308470	Gskip	GSK3B interacting protein	gene	DOID:8692	myeloid leukemia		ISO	RGD:1318256	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26280900
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0050835	generalized dystonia		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	PMID:25741868
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0060058	lymphoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0111163	molybdenum cofactor deficiency type B		ISO	RGD:1318258	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B	PMID:25741868|PMID:28492532
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0111164	molybdenum cofactor deficiency type A		ISO	RGD:1318258	D	RGD:1558665|PMID:12754701	20070511	RGD			
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0111164	molybdenum cofactor deficiency type A		ISO	RGD:1318258	D	RGD:1600439|PMID:9731530	20070308	RGD		DNA:deletion:exon:722delT, 1523delAG (human)	
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0111164	molybdenum cofactor deficiency type A		ISO	RGD:1318258	D	RGD:1624402|PMID:9921896	20070511	RGD		DNA:missense mutations, splice site mutation, frameshift mutation: :multiple	
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0111164	molybdenum cofactor deficiency type A		ISO	RGD:1318258	D	RGD:7240710	20160120	OMIM			
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0111164	molybdenum cofactor deficiency type A		ISO	RGD:1318258	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MOCS1-related condition | ClinVar Annotator: match by term: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: MOLYBDENUM COFACTOR DEFICIENCY, TYPE A | ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A	PMID:12754701|PMID:16021469|PMID:16199547|PMID:17576681|PMID:20573177|PMID:21031595|PMID:22403017|PMID:25741868|PMID:27289259|PMID:28274890|PMID:28492532|PMID:32014857|PMID:33840416|PMID:35192225|PMID:37789894|PMID:9536098|PMID:9731530|PMID:9921896
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0111164	molybdenum cofactor deficiency type A		ISS	RGD:1318259	D	RGD:13592920	20230718	MouseDO		OMIM:252150	
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:0111165	molybdenum cofactor deficiency		ISO	RGD:1318258	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:29274890|PMID:30695801
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:10907	microcephaly		ISO	RGD:1318258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:11891227|PMID:25741868|PMID:28492532|PMID:29274890|PMID:30695801|PMID:9731530|PMID:9921896
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:1115	sarcoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:12859	choreatic disease		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868|PMID:29274890|PMID:30695801
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:1324	lung cancer		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:14264	benign neonatal seizures		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:25741868
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:1826	epilepsy		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11891227|PMID:25741868|PMID:28492532|PMID:29274890|PMID:30695801|PMID:9921896
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:1909	melanoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25741868|PMID:28492532
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:3275	thymoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:543	dystonia		ISO	RGD:1318258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532|PMID:29274890|PMID:30695801|PMID:9731530
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:630	genetic disease		ISO	RGD:1318258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29274890|PMID:30695801|PMID:32369273|PMID:9536098|PMID:9731530|PMID:9921896
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:28492532
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17576681|PMID:25741868|PMID:27289259|PMID:28492532|PMID:9536098|PMID:9731530|PMID:9921896
1308471	Mocs1	molybdenum cofactor synthesis 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:29274890|PMID:30695801|PMID:9731530
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 1	PMID:23757202|PMID:25741868|PMID:28492532
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:0110131	Bardet-Biedl syndrome 9		ISO	RGD:1603660	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:0110131	Bardet-Biedl syndrome 9		ISO	RGD:1603660	D	RGD:7240710	20171011	OMIM			
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:0110131	Bardet-Biedl syndrome 9		ISO	RGD:1603660	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 9 | ClinVar Annotator: match by term: BBS9-related ciliopathy | ClinVar Annotator: match by term: BBS9-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 9	PMID:16199547|PMID:16380913|PMID:17576681|PMID:20177705|PMID:20498079|PMID:21157496|PMID:21209035|PMID:21642631|PMID:22479622|PMID:23160099|PMID:23757202|PMID:24849935|PMID:25525159|PMID:25741868|PMID:25910913|PMID:26085087|PMID:26518167|PMID:26766544|PMID:27659767|PMID:28492532|PMID:28981474|PMID:29096039|PMID:29970488|PMID:30614526|PMID:30718709|PMID:30773290|PMID:31054281|PMID:31456290|PMID:31488071|PMID:31589614|PMID:31690835|PMID:31736247|PMID:31888296|PMID:31964843|PMID:32165602|PMID:32686083|PMID:33138063|PMID:33777945|PMID:34354814|PMID:34526762|PMID:35112343|PMID:35304488|PMID:35562395|PMID:38674329|PMID:9536098
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1603660	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:30718709
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:1324	lung cancer		ISO	RGD:1603660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:1909	melanoma		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1603660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARL6-related disorder | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:16199547|PMID:16380913|PMID:17576681|PMID:20177705|PMID:23160099|PMID:23757202|PMID:24746959|PMID:25640679|PMID:25741868|PMID:26766544|PMID:27708425|PMID:27894351|PMID:28492532|PMID:30614526|PMID:31144483|PMID:32165602|PMID:32552793|PMID:33138063|PMID:33616283|PMID:33964006|PMID:34354814|PMID:9536098
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1603660	D	RGD:9684996|PMID:16380913	20141215	RGD		DNA:mutations:multiple:	
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:2340	craniosynostosis		ISO	RGD:1603660	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23160099
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:2340	craniosynostosis	susceptibility	ISO	RGD:1603660	D	RGD:9684995|PMID:23160099	20141215	RGD		DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human)	
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603660	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:16199547|PMID:16380913|PMID:20177705|PMID:25741868|PMID:28492532|PMID:32165602|PMID:34354814
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1603660	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:5419	schizophrenia		ISO	RGD:1603660	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:5426	primary ovarian insufficiency	susceptibility	ISO	RGD:1603660	D	RGD:9684994|PMID:18349106	20141215	RGD		DNA:SNPs,haplotypes: :	
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:5679	retinal disease		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:5723	optic atrophy		ISO	RGD:1603660	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:630	genetic disease		ISO	RGD:1603660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:8501	fundus dystrophy		ISO	RGD:1603660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16380913|PMID:20177705|PMID:24849935|PMID:25741868|PMID:28492532|PMID:32531858|PMID:35886
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603660	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1308472	Bbs9	Bardet-Biedl syndrome 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1308473	Tpst1	tyrosylprotein sulfotransferase 1	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1318261	D	RGD:152177496|PMID:27354594	20220513	RGD		DNA:SNP:3'utr: (rs3757417) G>T (human)	
1308473	Tpst1	tyrosylprotein sulfotransferase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318261	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308473	Tpst1	tyrosylprotein sulfotransferase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1318261	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308473	Tpst1	tyrosylprotein sulfotransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1318261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308473	Tpst1	tyrosylprotein sulfotransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308473	Tpst1	tyrosylprotein sulfotransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:0050908	myelodysplastic syndrome		ISS	RGD:1318264	D	RGD:13592920	20180518	MouseDO		OMIM:614286	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1318263	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:1324	lung cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:3275	thymoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318263	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318263	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308474	Mybl2	MYB proto-oncogene like 2	gene	DOID:9119	acute myeloid leukemia		ISS	RGD:1318264	D	RGD:13592920	20180518	MouseDO		OMIM:601626	
1308475	Zfp579	zinc finger protein 579	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:12874454|PMID:15805161|PMID:25741868|PMID:27225849|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital cystic disease of liver | ClinVar Annotator: match by term: Cystic liver disease	PMID:12874454|PMID:15108277|PMID:15108281|PMID:15698423|PMID:15805161|PMID:16133180|PMID:16523049|PMID:19176689|PMID:19940839|PMID:20460933|PMID:24033266|PMID:24162162|PMID:24984783|PMID:25193386|PMID:25741868|PMID:28375157|PMID:28492532|PMID:29801666|PMID:30650191|PMID:31589614|PMID:32359821|PMID:32939031|PMID:35715958
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1318267	D	RGD:14700921|PMID:18202188	20190827	RGD			
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0050876	Caroli disease		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Caroli disease	PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15698423|PMID:15805161|PMID:16133180|PMID:25701400|PMID:25741868|PMID:28492530|PMID:28492532|PMID:32359821|PMID:35715958
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0060340	ciliopathy		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliopathy	PMID:25741868
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0060980	polycystic liver disease 1		ISO	RGD:1318266	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1	PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16876319|PMID:19176689|PMID:19914852|PMID:19940839|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:24162162|PMID:24984783|PMID:25124979|PMID:25193386|PMID:25326637|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28862642|PMID:29068549|PMID:29801666|PMID:30275481|PMID:30507656|PMID:30650191|PMID:30773290|PMID:31130284|PMID:31395617|PMID:31589614|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:32939031|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33774617|PMID:33845788|PMID:33940108|PMID:35715958
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0080212	polycystic kidney disease 4		ISO	RGD:1318266	D	RGD:7240710	20180523	OMIM			
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0080212	polycystic kidney disease 4		ISO	RGD:1318266	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: PKHD1-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease 4	PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:18769842|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20301501|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:21407107|PMID:21493627|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23389334|PMID:23582048|PMID:24009235|PMID:24033266|PMID:24121792|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25034658|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25326637|PMID:25525159|PMID:25589618|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:26862157|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:28135719|PMID:28166811|PMID:28170084|PMID:28364132|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29947050|PMID:29956004|PMID:29956005|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30507656|PMID:30566001|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31010483|PMID:31056860|PMID:31308072|PMID:31328266|PMID:31395617|PMID:31395954|PMID:31589614|PMID:31624253|PMID:31730820|PMID:31738409|PMID:31785789|PMID:31813136|PMID:31844813|PMID:31938409|PMID:32203225|PMID:32256442|PMID:32304219|PMID:32359821|PMID:32384486|PMID:3239877|PMID:32398770|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32924121|PMID:32939031|PMID:33057194|PMID:33059616|PMID:33059727|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33742171|PMID:33774617|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34032358|PMID:34405919|PMID:34426522|PMID:34487536|PMID:34536170|PMID:34573383|PMID:35253369|PMID:35314707|PMID:35368817|PMID:35373060|PMID:35627109|PMID:35715958|PMID:35778421|PMID:35783601|PMID:35812281|PMID:35982159|PMID:36065636|PMID:36307859|PMID:36549658|PMID:36691356|PMID:37243546|PMID:37372416|PMID:37535131|PMID:38057357|PMID:38125876|PMID:38374194|PMID:39456122|PMID:9536098
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0080212	polycystic kidney disease 4		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PKD3 | ClinVar Annotator: match by term: PKHD1-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease 4	PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199547|PMID:16523049|PMID:16757948|PMID:16876319|PMID:17352659|PMID:17576681|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:20301501|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21790888|PMID:21945273|PMID:22995991|PMID:23389334|PMID:23757202|PMID:24033266|PMID:24162162|PMID:24984783|PMID:25193386|PMID:25250579|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26695994|PMID:26721323|PMID:26990548|PMID:27225849|PMID:27401137|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27843768|PMID:27894351|PMID:28170084|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:29801666|PMID:29956005|PMID:30076350|PMID:30260789|PMID:30275481|PMID:30476936|PMID:30507656|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30773290|PMID:31010483|PMID:31308072|PMID:31488014|PMID:31589614|PMID:32359821|PMID:32574212|PMID:32939031|PMID:33059727|PMID:33112055|PMID:33123899|PMID:33532864|PMID:33940108|PMID:34032358|PMID:34426522|PMID:34536170|PMID:34573383|PMID:35005812|PMID:35368817|PMID:35715958|PMID:35783601|PMID:35812281|PMID:36177613|PMID:36549658|PMID:36647814|PMID:36691356|PMID:36938085|PMID:37243546|PMID:37962562|PMID:38125876|PMID:38193396|PMID:38224954|PMID:38854310|PMID:39456122|PMID:39473742|PMID:39888183|PMID:40677324|PMID:40794449|PMID:9536098
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0080212	polycystic kidney disease 4		ISS	RGD:1318267	D	RGD:13592920	20230718	MouseDO		OMIM:263200	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31395954|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29068549|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31395954|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25326637|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741905|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29068549|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31328266|PMID:31395954|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892|PMID:34032358
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kidney, Polycystic | ClinVar Annotator: match by term: Polycystic Kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:11898128|PMID:11919560|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15698423|PMID:15805161|PMID:16133180|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19021639|PMID:19914852|PMID:19940839|PMID:20301501|PMID:20413436|PMID:21228398|PMID:21945273|PMID:22034641|PMID:23757202|PMID:24033266|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:26990548|PMID:27225849|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29801666|PMID:30343465|PMID:30773290|PMID:34405919|PMID:36691356|PMID:38125876|PMID:38854310|PMID:38885798|PMID:39888183
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Kidney, Polycystic | ClinVar Annotator: match by term: Polycystic Kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19021639|PMID:19914852|PMID:19940839|PMID:20301501|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21945273|PMID:22034641|PMID:24033266|PMID:25124979|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:26990548|PMID:27225849|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29801666|PMID:30343465|PMID:30650191|PMID:30773290|PMID:31589614|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32574212|PMID:32799815|PMID:32939031|PMID:33258288|PMID:33437033|PMID:33532864|PMID:34405919|PMID:34426522|PMID:35314707|PMID:35587316|PMID:35627109|PMID:35812281|PMID:36307859|PMID:36691356|PMID:36703223|PMID:36938085|PMID:37095353|PMID:37780053|PMID:38125876|PMID:38211685|PMID:38854310|PMID:38861662|PMID:38868576|PMID:38885798|PMID:39888183|PMID:40794449
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kidney, Polycystic | ClinVar Annotator: match by term: Polycystic Kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease	PMID:11898128|PMID:11919560|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15698423|PMID:15805161|PMID:16133180|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19021639|PMID:19914852|PMID:19940839|PMID:20301501|PMID:20413436|PMID:21228398|PMID:21945273|PMID:22034641|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:26990548|PMID:27225849|PMID:28492532|PMID:28862642|PMID:29801666|PMID:30343465|PMID:30773290|PMID:34405919|PMID:36691356|PMID:38125876|PMID:38854310|PMID:38885798|PMID:39888183
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kidney, Polycystic | ClinVar Annotator: match by term: Polycystic Kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease	PMID:11919560|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15698423|PMID:15805161|PMID:16133180|PMID:16523049|PMID:16632497|PMID:19914852|PMID:20301501|PMID:20413436|PMID:21945273|PMID:23757202|PMID:24033266|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27225849|PMID:28492530|PMID:28492532|PMID:30773290|PMID:36691356|PMID:38125876|PMID:38854310|PMID:39888183
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1318267	D	RGD:1642440|PMID:15067314	20070917	RGD		mRNA:decreased expression:kidney	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0081394	Caroli syndrome		ISS	RGD:1318267	D	RGD:13592920	20240118	MouseDO			
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110860	polycystic kidney disease 3		ISO	RGD:1318266	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: PKD3 | ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease	PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:17576681|PMID:18503009|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:22882926|PMID:23041322|PMID:23582048|PMID:24033266|PMID:24162162|PMID:24984783|PMID:25034658|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28170084|PMID:28252636|PMID:28375157|PMID:28492532|PMID:28578020|PMID:29095814|PMID:29801666|PMID:29956005|PMID:30275481|PMID:30343465|PMID:30507656|PMID:30586318|PMID:30650191|PMID:30773290|PMID:30787879|PMID:31130284|PMID:31395954|PMID:31589614|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33845788|PMID:33940108|PMID:34008892|PMID:9536098
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110860	polycystic kidney disease 3		ISO	RGD:1318266	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: GANAB-related condition | ClinVar Annotator: match by term: PKD3	PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20301501|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:21407107|PMID:21493627|PMID:21945273|PMID:22034641|PMID:22415584|PMID:23389334|PMID:23582048|PMID:24033266|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25034658|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25771912|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:26721323|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27752906|PMID:27894351|PMID:28170084|PMID:28252636|PMID:28364132|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28851938|PMID:29068549|PMID:29095814|PMID:29643536|PMID:29801666|PMID:29956005|PMID:30260789|PMID:30275481|PMID:30507656|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30773290|PMID:30787879|PMID:31010483|PMID:31130284|PMID:31308072|PMID:31328266|PMID:31395617|PMID:31589614|PMID:31730820|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32203225|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33059727|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33742171|PMID:33774617|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34405919|PMID:34426522|PMID:34487536|PMID:34536170|PMID:35372954|PMID:35373060|PMID:35497799|PMID:35715958|PMID:35778421|PMID:35812281|PMID:36307859|PMID:36703223|PMID:36938085|PMID:38057357|PMID:38374194|PMID:39071699|PMID:9536098
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110860	polycystic kidney disease 3		ISO	RGD:1318266	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GANAB-related condition | ClinVar Annotator: match by term: PKD3	PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199547|PMID:16523049|PMID:16876319|PMID:17576681|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:20301501|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21945273|PMID:22034641|PMID:22995991|PMID:24033266|PMID:24162162|PMID:24984783|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26139440|PMID:26385851|PMID:26721323|PMID:26990548|PMID:27225849|PMID:27401137|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27843768|PMID:28170084|PMID:28375157|PMID:28492532|PMID:29801666|PMID:29956005|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30476936|PMID:30507656|PMID:30586318|PMID:30773290|PMID:31488014|PMID:31589614|PMID:32359821|PMID:32574212|PMID:32939031|PMID:33123899|PMID:33532864|PMID:33845788|PMID:33940108|PMID:34032358|PMID:34405919|PMID:34426522|PMID:34536170|PMID:34573383|PMID:35005812|PMID:35368817|PMID:35715958|PMID:35783601|PMID:36691356|PMID:37243546|PMID:37962562|PMID:38125876|PMID:38854310|PMID:38885798|PMID:39456122|PMID:39888183|PMID:9536098
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110860	polycystic kidney disease 3		ISO	RGD:1318266	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PKD3	PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199547|PMID:16523049|PMID:17576681|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:20301501|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21945273|PMID:22034641|PMID:24162162|PMID:24710345|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26139440|PMID:26385851|PMID:26721323|PMID:26990548|PMID:27225849|PMID:27577217|PMID:27595491|PMID:27752906|PMID:28170084|PMID:28375157|PMID:28492532|PMID:28578020|PMID:29801666|PMID:29956005|PMID:30275481|PMID:30343465|PMID:30507656|PMID:30510609|PMID:30586318|PMID:30773290|PMID:31328266|PMID:31589614|PMID:32574212|PMID:32939031|PMID:33123899|PMID:33532864|PMID:33845788|PMID:33940108|PMID:34031707|PMID:34405919|PMID:34536170|PMID:34573383|PMID:35368817|PMID:35783601|PMID:36307859|PMID:36573973|PMID:36691356|PMID:37243546|PMID:38125876|PMID:38854310|PMID:38885798|PMID:39456122|PMID:39888183|PMID:9536098
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110860	polycystic kidney disease 3		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PKD3 | ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease	PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16523049|PMID:16876319|PMID:17576681|PMID:19176689|PMID:19914852|PMID:19940839|PMID:20301501|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21790888|PMID:21945273|PMID:22995991|PMID:23389334|PMID:24033266|PMID:24162162|PMID:24984783|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25741868|PMID:25966130|PMID:26139440|PMID:26695994|PMID:26990548|PMID:27225849|PMID:27401137|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27843768|PMID:28170084|PMID:28375157|PMID:28492532|PMID:29801666|PMID:30260789|PMID:30275481|PMID:30476936|PMID:30507656|PMID:30586318|PMID:30650191|PMID:30773290|PMID:31010483|PMID:31488014|PMID:31589614|PMID:32359821|PMID:32939031|PMID:33112055|PMID:33123899|PMID:33532864|PMID:33940108|PMID:34032358|PMID:34426522|PMID:34536170|PMID:35005812|PMID:35368817|PMID:35715958|PMID:35783601|PMID:35812281|PMID:36647814|PMID:36691356|PMID:37243546|PMID:37962562|PMID:38125876|PMID:38854310|PMID:39456122|PMID:39888183|PMID:9536098
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110861	autosomal recessive polycystic kidney disease		IAGP		D	RGD:70439|PMID:11919560	20210416	RGD			
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110861	autosomal recessive polycystic kidney disease		IEP		D	RGD:1642441|PMID:14983006	20070917	RGD		protein:decreased expression:kidney	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1318266	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16133180|PMID:18988797|PMID:19524688|PMID:21685914
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease	PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:20575693|PMID:21228398|PMID:21274727|PMID:21493627|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23265383|PMID:23389334|PMID:23582048|PMID:23757202|PMID:24009235|PMID:24033266|PMID:24121792|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25640679|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741880|PMID:25741895|PMID:25741913|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28170084|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29956005|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30507656|PMID:30566001|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31130284|PMID:31395954|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34426522|PMID:9536098
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease, autosomal recessive | ClinVar Annotator: match by term: autosomal recessive polycystic kidney disease	PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:1569842|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16876319|PMID:16897190|PMID:17576681|PMID:18414213|PMID:18503009|PMID:18769842|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20301501|PMID:20413436|PMID:20460933|PMID:20575693|PMID:21228398|PMID:21407107|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24009235|PMID:24033266|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25326637|PMID:25525159|PMID:25589618|PMID:25640679|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741880|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:26990548|PMID:27225849|PMID:27401137|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27843768|PMID:28166811|PMID:28170084|PMID:28364132|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:28814334|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29095814|PMID:29520754|PMID:29801666|PMID:29947050|PMID:29956004|PMID:29956005|PMID:30017326|PMID:30259503|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30476936|PMID:30507656|PMID:30566001|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30820006|PMID:31303547|PMID:31328266|PMID:31395954|PMID:31488014|PMID:31589614|PMID:31624253|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31829256|PMID:31844813|PMID:31847883|PMID:31938409|PMID:32040628|PMID:32203225|PMID:32359821|PMID:32384486|PMID:3239877|PMID:32398770|PMID:32457805|PMID:32574212|PMID:32901917|PMID:32939031|PMID:33059616|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33255631|PMID:33282801|PMID:33416279|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33800913|PMID:33845788|PMID:33940108|PMID:33964006|PMID:34008892|PMID:34031707|PMID:34032358|PMID:34096032|PMID:34249099|PMID:34327338|PMID:34405919|PMID:34426522|PMID:34455394|PMID:34487536|PMID:34536170|PMID:34573383|PMID:34645488|PMID:34853893|PMID:34906515|PMID:34958143|PMID:34977057|PMID:35005812|PMID:35065907|PMID:35253369|PMID:35314707|PMID:35368817|PMID:35372954|PMID:35373060|PMID:35405383|PMID:35497799|PMID:35627109|PMID:35715958|PMID:35778421|PMID:35783601|PMID:35812281|PMID:36065636|PMID:36307859|PMID:36550190|PMID:36647814|PMID:36657418|PMID:36685964|PMID:36691356|PMID:36835961|PMID:36938085|PMID:37078890|PMID:37243546|PMID:37372416|PMID:37535131|PMID:37635794|PMID:37662847|PMID:37795942|PMID:37875772|PMID:37895220|PMID:37962562|PMID:37984685|PMID:38025242|PMID:38098057|PMID:38125876|PMID:38670396|PMID:38837003|PMID:38839463|PMID:38854310|PMID:38868576|PMID:38885798|PMID:38971859|PMID:39071699|PMID:39456122|PMID:39467534|PMID:39473742|PMID:39521997|PMID:39731278|PMID:39802589|PMID:39888183|PMID:39891531|PMID:40677324|PMID:40794449|PMID:40865752|PMID:9536098
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease, autosomal recessive | ClinVar Annotator: match by term: autosomal recessive polycystic kidney disease	PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:1569842|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16876319|PMID:16897190|PMID:17576681|PMID:18414213|PMID:18503009|PMID:18769842|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20301501|PMID:20413436|PMID:20460933|PMID:20575693|PMID:21228398|PMID:21274727|PMID:21407107|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23582048|PMID:24009235|PMID:24033266|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25640679|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741880|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:26990548|PMID:27151922|PMID:27225849|PMID:27401137|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27843768|PMID:27894351|PMID:28166811|PMID:28170084|PMID:28364132|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:28814334|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29068549|PMID:29095814|PMID:29520754|PMID:29801666|PMID:29947050|PMID:29956004|PMID:29956005|PMID:30017326|PMID:30259503|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30476936|PMID:30507656|PMID:30566001|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30820006|PMID:31130284|PMID:31303547|PMID:31328266|PMID:31395954|PMID:31488014|PMID:31589614|PMID:31624253|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31829256|PMID:31844813|PMID:31847883|PMID:31938409|PMID:31980526|PMID:32040628|PMID:32203225|PMID:32359821|PMID:32384486|PMID:3239877|PMID:32398770|PMID:32457805|PMID:32571524|PMID:32574212|PMID:32799815|PMID:32901917|PMID:32939031|PMID:33059616|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33255631|PMID:33258288|PMID:33282801|PMID:33416279|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33800913|PMID:33845788|PMID:33940108|PMID:33964006|PMID:34008892|PMID:34031707|PMID:34032358|PMID:34096032|PMID:34249099|PMID:34327338|PMID:34405919|PMID:34426522|PMID:34455394|PMID:34487536|PMID:34536170|PMID:34573383|PMID:34645488|PMID:34853893|PMID:34906515|PMID:34958143|PMID:34977057|PMID:35005812|PMID:35065907|PMID:35253369|PMID:35314707|PMID:35368817|PMID:35373060|PMID:35405383|PMID:35497799|PMID:35587316|PMID:35627109|PMID:35715958|PMID:35778421|PMID:35783601|PMID:35812281|PMID:36065636|PMID:36307859|PMID:36550190|PMID:36647814|PMID:36657418|PMID:36685964|PMID:36691356|PMID:36703223|PMID:36835961|PMID:36938085|PMID:37078890|PMID:37095353|PMID:37243546|PMID:37372416|PMID:37471416|PMID:37535131|PMID:37635794|PMID:37662847|PMID:37780053|PMID:37795942|PMID:37850020|PMID:37875772|PMID:37895220|PMID:37984685|PMID:38025242|PMID:38098057|PMID:38125876|PMID:38211685|PMID:38300123|PMID:38670396|PMID:38837003|PMID:38839463|PMID:38854310|PMID:38861662|PMID:38868576|PMID:38885798|PMID:38971859|PMID:39071699|PMID:39456122|PMID:39467534|PMID:39473742|PMID:39521997|PMID:39731278|PMID:39802589|PMID:39888183|PMID:39891531|PMID:40677324|PMID:40794449|PMID:40865752|PMID:9536098
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | ClinVar Annotator: match by term: autosomal recessive polycystic kidney disease	PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:1569842|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16876319|PMID:16897190|PMID:17576681|PMID:18414213|PMID:18503009|PMID:18769842|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20301501|PMID:20413436|PMID:20460933|PMID:20575693|PMID:21228398|PMID:21407107|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23389334|PMID:23582048|PMID:23757202|PMID:24009235|PMID:24033266|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25034658|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25640679|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741880|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:26990548|PMID:27151922|PMID:27225849|PMID:27401137|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27843768|PMID:27894351|PMID:28170084|PMID:28364132|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28933340|PMID:29068549|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29947050|PMID:29956004|PMID:29956005|PMID:30017326|PMID:30259503|PMID:30260789|PMID:30275481|PMID:30366773|PMID:30476936|PMID:30507656|PMID:30566001|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30820006|PMID:31010483|PMID:31130284|PMID:31303547|PMID:31328266|PMID:31395954|PMID:31488014|PMID:31589614|PMID:31624253|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31829256|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32040628|PMID:32203225|PMID:32359821|PMID:32384486|PMID:3239877|PMID:32398770|PMID:32457805|PMID:32571524|PMID:32574212|PMID:32799815|PMID:32901917|PMID:32939031|PMID:33059616|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33255631|PMID:33282801|PMID:33416279|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33800913|PMID:33845788|PMID:33940108|PMID:33964006|PMID:34008892|PMID:34031707|PMID:34032358|PMID:34096032|PMID:34249099|PMID:34327338|PMID:34405919|PMID:34426522|PMID:34455394|PMID:34487536|PMID:34536170|PMID:34573383|PMID:34645488|PMID:34853893|PMID:34906515|PMID:34958143|PMID:34977057|PMID:35005812|PMID:35065907|PMID:35253369|PMID:35314707|PMID:35368817|PMID:35405383|PMID:35497799|PMID:35627109|PMID:35715958|PMID:35778421|PMID:35783601|PMID:35812281|PMID:36065636|PMID:36307859|PMID:36550190|PMID:36647814|PMID:36657418|PMID:36685964|PMID:36691356|PMID:36835961|PMID:36938085|PMID:37078890|PMID:37243546|PMID:37372416|PMID:37471416|PMID:37535131|PMID:37635794|PMID:37662847|PMID:37795942|PMID:37850020|PMID:37875772|PMID:37895220|PMID:37962562|PMID:37984685|PMID:38025242|PMID:38098057|PMID:38125876|PMID:38224954|PMID:38670396|PMID:38839463|PMID:38854310|PMID:38868576|PMID:38885798|PMID:38971859|PMID:39019822|PMID:39071699|PMID:39456122|PMID:39467534|PMID:39473742|PMID:39521997|PMID:39731278|PMID:39802589|PMID:39888183|PMID:39891531|PMID:40774958|PMID:40794449|PMID:40865752|PMID:41751613|PMID:9536098
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1318267	D	RGD:14700917|PMID:17519956	20190827	RGD		DNA:deletion:exon:	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISS	RGD:1318267	D	RGD:13592920	20230718	MouseDO		OMIM:263200	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110861	autosomal recessive polycystic kidney disease	severity	ISO	RGD:1318266	D	RGD:11062506|PMID:12874454	20190903	RGD		DNA:missense mutations:cds:	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110861	autosomal recessive polycystic kidney disease	susceptibility	IAGP		D	RGD:70439|PMID:11919560	20070917	RGD		DNA:splice site mutation:intron:IVS35-2A>T	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:0110861	autosomal recessive polycystic kidney disease	susceptibility	ISO	RGD:1318266	D	RGD:70439|PMID:11919560	20070917	RGD		DNA:missense mutations, nonsense mutations: :multiple	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:10283	prostate cancer		ISO	RGD:1318266	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:1074	kidney failure		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kidney failure | ClinVar Annotator: match by term: Renal insufficiency	PMID:15698423|PMID:15805161|PMID:25741868|PMID:28375157|PMID:28492532|PMID:30275481|PMID:32359821|PMID:35715958
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:1115	sarcoma		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:12215	oligohydramnios		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anhydramnios | ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:35005812
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:12712	nephronophthisis		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:11898128|PMID:15698423|PMID:15805161|PMID:17576681|PMID:19914852|PMID:20413436|PMID:24984783|PMID:25741868|PMID:27225849|PMID:28492532|PMID:33532864|PMID:35005812|PMID:9536098
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:12849	autistic disorder		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:13099	Moyamoya disease		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moyamoya disease	PMID:25741868|PMID:26139440|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:1324	lung cancer		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:1909	melanoma		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:2975	cystic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cystic renal disease | ClinVar Annotator: match by term: Familial cystic renal disease | ClinVar Annotator: match by term: Renal cyst	PMID:16133180|PMID:19914852|PMID:19940839|PMID:24033266|PMID:24162162|PMID:25741868|PMID:27225849|PMID:28170084|PMID:28375157|PMID:28492532|PMID:30586318|PMID:30650191|PMID:31738409|PMID:31980526|PMID:33416279|PMID:33940108|PMID:37850020|PMID:38300123|PMID:39888183|PMID:40794449
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:12874454|PMID:15805161|PMID:25741868|PMID:27225849|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318266	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:5041	esophageal cancer		ISO	RGD:1318266	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:12846734|PMID:25741868
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:5082	liver cirrhosis		ISO	RGD:1318267	D	RGD:14700917|PMID:17519956	20190827	RGD		DNA:deletion:exon:	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:12874454|PMID:15805161|PMID:25741868|PMID:27225849|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:630	genetic disease		ISO	RGD:1318266	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11919560|PMID:15698423|PMID:15805161|PMID:19914852|PMID:20413436|PMID:23041322|PMID:25741868|PMID:26695994|PMID:28492532|PMID:29956005|PMID:31395954
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:630	genetic disease		ISO	RGD:1318266	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Disorder | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:19914852|PMID:19940839|PMID:20301501|PMID:20413436|PMID:21274727|PMID:23041322|PMID:23265383|PMID:25124979|PMID:25525159|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27225849|PMID:27577217|PMID:28375157|PMID:28492532|PMID:29956005|PMID:30773290|PMID:31395617|PMID:31395954|PMID:32304219|PMID:32574212|PMID:32799815|PMID:33123899|PMID:33532864|PMID:33774617|PMID:35783601|PMID:37243546|PMID:39456122
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:630	genetic disease		ISO	RGD:1318266	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:19914852|PMID:19940839|PMID:20301501|PMID:20413436|PMID:21274727|PMID:23041322|PMID:25124979|PMID:25525159|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27225849|PMID:27577217|PMID:28375157|PMID:28492532|PMID:29956005|PMID:30773290|PMID:31395617|PMID:31395954|PMID:32304219|PMID:32574212|PMID:32799815|PMID:33123899|PMID:33532864|PMID:33774617|PMID:35783601|PMID:37243546|PMID:39456122
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:630	genetic disease		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15108281|PMID:16523049|PMID:19940839|PMID:20301501|PMID:24984783|PMID:25525159|PMID:25741868|PMID:26395002|PMID:26990548|PMID:27225849|PMID:27577217|PMID:28492532|PMID:30260789|PMID:33123899|PMID:33940108|PMID:34426522|PMID:35783601|PMID:37243546|PMID:37962562|PMID:37984685|PMID:38416847|PMID:39004944|PMID:39456122|PMID:40794449
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:674	cleft palate		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16876319|PMID:24162162|PMID:25741868|PMID:28492532|PMID:34032358
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:783	end stage renal disease		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:16133180|PMID:19940839|PMID:25741868|PMID:28170084|PMID:28492532|PMID:30586318|PMID:33940108
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:784	chronic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:19940839|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30650191
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:893	Wilson disease		ISO	RGD:1318266	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Wilson disease	PMID:12846734|PMID:14741187|PMID:15805161|PMID:21493627|PMID:25326637|PMID:25646624|PMID:25701400|PMID:25741868|PMID:28492532|PMID:33532864|PMID:33716212
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1318266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:899	choledochal cyst		ISO	RGD:1318266	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18988797
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:899	choledochal cyst		ISO	RGD:1318267	D	RGD:14700991|PMID:15830394	20190903	RGD		DNA:deletion:exon:	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9002720	Splenomegaly		ISO	RGD:1318266	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: splenomegaly	PMID:25741868|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9002851	Medullary Sponge Kidney		ISO	RGD:1318267	D	RGD:14700919|PMID:30600684	20190827	RGD			
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9004108	Fused Kidney		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:25741868|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9006554	Pancreatic Cyst		ISO	RGD:1318267	D	RGD:14700917|PMID:17519956	20190827	RGD		DNA:deletion:exon:	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9006554	Pancreatic Cyst		ISO	RGD:1318267	D	RGD:14700921|PMID:18202188	20190827	RGD			
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9006697	Congenital Hepatic Fibrosis		ISO	RGD:1318266	D	RGD:14700992|PMID:30507656	20190903	RGD		DNA:mutations:cds:c.7994T>C, p.(Leu2665Pro),c.8518C>T, p.(Arg2840Cys)(human)	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9006697	Congenital Hepatic Fibrosis		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hepatic fibrosis | ClinVar Annotator: match by term: congenital hepatic fibrosis	PMID:16133180|PMID:19940839|PMID:25741868|PMID:28170084|PMID:28492532|PMID:30586318|PMID:33940108
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9006697	Congenital Hepatic Fibrosis		ISO	RGD:1318267	D	RGD:14700919|PMID:30600684	20190827	RGD			
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1318266	D	RGD:8554872	20230418	ClinVar		ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3	
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:26695994|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9263	homocystinuria		ISO	RGD:1318266	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Homocystinuria due to CBS deficiency	PMID:25741868
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9446	cholangitis		ISO	RGD:1318267	D	RGD:14700923|PMID:29158418	20190827	RGD			
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868|PMID:28492532
1308476	Pkhd1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	gene	DOID:9834	hyperopia		ISO	RGD:1318266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:15108277|PMID:15108281|PMID:15698423|PMID:16133180|PMID:16523049|PMID:19176689|PMID:19940839|PMID:20460933|PMID:25741868|PMID:28375157|PMID:28492532|PMID:31589614|PMID:32939031
1308477	Drap1	Dr1 associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308477	Drap1	Dr1 associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1318268	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1308477	Drap1	Dr1 associated protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308477	Drap1	Dr1 associated protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308477	Drap1	Dr1 associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308477	Drap1	Dr1 associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308477	Drap1	Dr1 associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308478	Slc50a1	solute carrier family 50 member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308478	Slc50a1	solute carrier family 50 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308478	Slc50a1	solute carrier family 50 member 1	gene	DOID:1115	sarcoma		ISO	RGD:1607017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308478	Slc50a1	solute carrier family 50 member 1	gene	DOID:1909	melanoma		ISO	RGD:1607017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308478	Slc50a1	solute carrier family 50 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1607017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308478	Slc50a1	solute carrier family 50 member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1607017	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308478	Slc50a1	solute carrier family 50 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308478	Slc50a1	solute carrier family 50 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308479	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308479	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308479	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308479	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:1115	sarcoma		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308479	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:1909	melanoma		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308479	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308479	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318271	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308479	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318271	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308479	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308479	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318271	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308479	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308479	Ndor1	NADPH dependent diflavin oxidoreductase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308481	Sdr42e1	short chain dehydrogenase/reductase family 42E, member 1	gene	DOID:0081238	acromesomelic dysplasia 4		ISO	RGD:1601729	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Acromesomelic dysplasia 4	PMID:25741868
1308481	Sdr42e1	short chain dehydrogenase/reductase family 42E, member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308481	Sdr42e1	short chain dehydrogenase/reductase family 42E, member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308481	Sdr42e1	short chain dehydrogenase/reductase family 42E, member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1601729	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308482	Sfxn1	sideroflexin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308482	Sfxn1	sideroflexin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308482	Sfxn1	sideroflexin 1	gene	DOID:1324	lung cancer		ISO	RGD:1318276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308482	Sfxn1	sideroflexin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308482	Sfxn1	sideroflexin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1318276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308482	Sfxn1	sideroflexin 1	gene	DOID:3275	thymoma		ISO	RGD:1318276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308482	Sfxn1	sideroflexin 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318276	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1308482	Sfxn1	sideroflexin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308482	Sfxn1	sideroflexin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308482	Sfxn1	sideroflexin 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308482	Sfxn1	sideroflexin 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1318276	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1308482	Sfxn1	sideroflexin 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318276	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
1308482	Sfxn1	sideroflexin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308482	Sfxn1	sideroflexin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1318278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:0081438	Peroxisome biogenesis disorder 9B		ISO	RGD:1318278	D	RGD:7240710	20141015	OMIM			
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:0081438	Peroxisome biogenesis disorder 9B		ISO	RGD:1318278	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 9B | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER, PEX7-RELATED, ATYPICAL | ClinVar Annotator: match by term: PEX7-related disorder | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B | ClinVar Annotator: match by term: Refsum disease, adult, 2	PMID:10083738|PMID:11756410|PMID:11781871|PMID:12325024|PMID:12522768|PMID:16199547|PMID:17576681|PMID:20145307|PMID:20301447|PMID:21465523|PMID:23462609|PMID:23572185|PMID:25640679|PMID:25741868|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:9090381|PMID:9090382|PMID:9536098
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:0110851	rhizomelic chondrodysplasia punctata type 1		ISO	RGD:1318278	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11781871|PMID:12522768
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:0110851	rhizomelic chondrodysplasia punctata type 1		ISO	RGD:1318278	D	RGD:7240710	20130221	OMIM			
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:0110851	rhizomelic chondrodysplasia punctata type 1		ISO	RGD:1318278	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chondrodystrophia calcificans punctata | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 9 | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1 | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata, type 1	PMID:10083738|PMID:11756410|PMID:11781871|PMID:12325024|PMID:12522768|PMID:16199547|PMID:17576681|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23352163|PMID:23572185|PMID:25741868|PMID:25800479|PMID:26408048|PMID:26587300|PMID:28492532|PMID:32820185|PMID:33586206|PMID:34671977|PMID:38093364|PMID:9090381|PMID:9090382|PMID:9536098
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:0110851	rhizomelic chondrodysplasia punctata type 1		ISO	RGD:1318279	D	RGD:13208515|PMID:12915479	20170809	RGD			
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:0110851	rhizomelic chondrodysplasia punctata type 1		ISS	RGD:1318279	D	RGD:13592920	20230718	MouseDO		OMIM:215100	
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1318278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:10582	Refsum disease		ISO	RGD:1318278	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12522768
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:10582	Refsum disease		ISO	RGD:1318278	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Phytanic acid storage disease	PMID:10083738|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12325024|PMID:12522768|PMID:14974078|PMID:1773541|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23572185|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26467025|PMID:26587300|PMID:28492532|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9686382
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:10582	Refsum disease		ISO	RGD:1318278	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Phytanic acid oxidase deficiency | ClinVar Annotator: match by term: Phytanic acid storage disease	PMID:10083738|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12325024|PMID:12522768|PMID:14974078|PMID:16199547|PMID:17576681|PMID:1773541|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23572185|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:31964843|PMID:31980526|PMID:32483926|PMID:33337545|PMID:35055178|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9536098|PMID:9686382
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:10582	Refsum disease		ISO	RGD:1318278	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Phytanic acid storage disease	PMID:10083738|PMID:11756410|PMID:11781871|PMID:12325024|PMID:20301447|PMID:25741868|PMID:26408048|PMID:28492532|PMID:9090381|PMID:9090382
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:1059	intellectual disability		ISO	RGD:1318278	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:10907	microcephaly		ISO	RGD:1318278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:1909	melanoma		ISO	RGD:1318278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:2580	rhizomelic chondrodysplasia punctata		ISO	RGD:1318278	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9090381
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:2580	rhizomelic chondrodysplasia punctata		ISO	RGD:1318278	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rhizomelic Chondrodysplasia Punctata | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata	PMID:10083738|PMID:11756410|PMID:11781871|PMID:12325024|PMID:12522768|PMID:14974078|PMID:16199547|PMID:17325280|PMID:17576681|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23462609|PMID:23572185|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:31964843|PMID:31980526|PMID:34229749|PMID:34529350|PMID:34671977|PMID:35055178|PMID:38438125|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9536098
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1318278	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:5679	retinal disease		ISO	RGD:1318278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:12325024|PMID:12522768|PMID:16199547|PMID:20301447|PMID:25741868|PMID:28492532|PMID:33337545
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:630	genetic disease		ISO	RGD:1318278	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:65	connective tissue disease		ISO	RGD:1318278	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:83	cataract		ISO	RGD:1318278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:8501	fundus dystrophy		ISO	RGD:1318278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:9005226	Coxa Vara		ISO	RGD:1318278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa vara	PMID:25741868
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1308483	Pex7	peroxisomal biogenesis factor 7	gene	DOID:9834	hyperopia		ISO	RGD:1318278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17576681|PMID:28492532|PMID:9536098
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1605399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:24033266|PMID:25741868
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:0110486	autosomal recessive nonsyndromic deafness 28		ISO	RGD:1605399	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:0110486	autosomal recessive nonsyndromic deafness 28		ISO	RGD:1605399	D	RGD:7240710	20130221	OMIM			
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:0110486	autosomal recessive nonsyndromic deafness 28		ISO	RGD:1605399	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 28 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 28 | ClinVar Annotator: match by term: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition	PMID:16385457|PMID:16385458|PMID:20510926|PMID:23967202|PMID:24033266|PMID:24853665|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27014650|PMID:27068579|PMID:27848944|PMID:28089734|PMID:28492532|PMID:29758562|PMID:30311386|PMID:31178897|PMID:34440452|PMID:35802133|PMID:35982127|PMID:36029164|PMID:36515421|PMID:36633841
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:0110486	autosomal recessive nonsyndromic deafness 28		ISS	RGD:1318281	D	RGD:13592920	20230718	MouseDO		OMIM:609823	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:11162	respiratory failure		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:11830	myopia		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:1596	depressive disorder		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:1826	epilepsy		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:1909	melanoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:1924	hypogonadism		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:2030	anxiety disorder		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:480	movement disease		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1605399	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:630	genetic disease		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:7998	hyperthyroidism		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9003507	Premature Birth		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:1605399	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:24033266|PMID:25741868|PMID:28000701|PMID:28089734|PMID:28492532|PMID:29197352|PMID:30311386
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:16385457|PMID:16385458|PMID:20510926|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9008681	Deafness		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:936	brain disease		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9834	hyperopia		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1308485	Triobp	TRIO and F-actin binding protein	gene	DOID:9849	Meniere's disease		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:35802133
1308487	Kif12	kinesin family member 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308487	Kif12	kinesin family member 12	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISS	RGD:1318283	D	RGD:13592920	20250925	MouseDO			
1308487	Kif12	kinesin family member 12	gene	DOID:10283	prostate cancer		ISO	RGD:1318282	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1308487	Kif12	kinesin family member 12	gene	DOID:10283	prostate cancer		ISO	RGD:1318282	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1308487	Kif12	kinesin family member 12	gene	DOID:10534	stomach cancer		ISO	RGD:1318282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308487	Kif12	kinesin family member 12	gene	DOID:630	genetic disease		ISO	RGD:1318282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308487	Kif12	kinesin family member 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308487	Kif12	kinesin family member 12	gene	DOID:9002626	Progressive Familial Intrahepatic Cholestasis 8		ISO	RGD:1318282	D	RGD:7240710	20211222	OMIM			
1308487	Kif12	kinesin family member 12	gene	DOID:9002626	Progressive Familial Intrahepatic Cholestasis 8		ISO	RGD:1318282	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 | ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 8 | ClinVar Annotator: match by term: KIF12-related disorder	PMID:25741868|PMID:28492532
1308487	Kif12	kinesin family member 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:0061215	hepatic fibrosis		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:0070221	progressive familial intrahepatic cholestasis		ISO	RGD:1318284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis	PMID:10323248|PMID:14976163|PMID:15239083|PMID:18937870|PMID:19381753|PMID:19731236|PMID:19918981|PMID:20232290|PMID:23060447|PMID:25315773|PMID:25741868|PMID:26382629|PMID:26756876|PMID:26858187|PMID:28045770|PMID:28492532|PMID:31450232|PMID:33437900|PMID:33666275|PMID:34016879|PMID:34543749|PMID:9500542
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:0070223	progressive familial intrahepatic cholestasis 3		ISO	RGD:1318284	D	RGD:11554173	20250708	CTD		CTD Direct Evidence: marker/mechanism	
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:0070226	progressive familial intrahepatic cholestasis 1		ISO	RGD:1318284	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:0070226	progressive familial intrahepatic cholestasis 1		ISO	RGD:1318284	D	RGD:7240710	20130221	OMIM			
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:0070226	progressive familial intrahepatic cholestasis 1		ISO	RGD:1318284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1	PMID:15239083|PMID:15317749|PMID:15888793|PMID:1774530|PMID:18668687|PMID:18785905|PMID:19381753|PMID:19479804|PMID:20301474|PMID:24260417|PMID:25741868|PMID:26823041|PMID:27050426|PMID:28492532|PMID:28733223|PMID:29238877|PMID:33437900|PMID:33666275|PMID:34679599|PMID:34828443|PMID:34942279|PMID:35232966|PMID:40869443|PMID:9500542
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:0070227	intrahepatic cholestasis of pregnancy		ISO	RGD:1318284	D	RGD:11554173	20180918	CTD		CTD Direct Evidence: marker/mechanism	
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:0070228	intrahepatic cholestasis of pregnancy 1		ISO	RGD:1318284	D	RGD:7240710	20180912	OMIM			
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:0070228	intrahepatic cholestasis of pregnancy 1		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1	PMID:15239083|PMID:20232290|PMID:22525741|PMID:25421123|PMID:25741868|PMID:26678486|PMID:28039895|PMID:28492532|PMID:29238877|PMID:32942997|PMID:33070363|PMID:33915153|PMID:37697751
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:0070231	benign recurrent intrahepatic cholestasis 1		ISO	RGD:1318284	D	RGD:14401576|PMID:9918928	20190513	RGD		DNA:missense mutation:cds:p.I661T (human)	
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:0070231	benign recurrent intrahepatic cholestasis 1		ISO	RGD:1318284	D	RGD:7240710	20180912	OMIM			
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:0070231	benign recurrent intrahepatic cholestasis 1		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Summerskill syndrome	PMID:15239083|PMID:15317749|PMID:18668687|PMID:20232290|PMID:20301474|PMID:22525741|PMID:25421123|PMID:25741868|PMID:26678486|PMID:27050426|PMID:28045770|PMID:28492532|PMID:28733223|PMID:29654655|PMID:31160058|PMID:33666275|PMID:34016879|PMID:34283821|PMID:35232966|PMID:35535061|PMID:37361697|PMID:37697751|PMID:39768432|PMID:40851490|PMID:9500542
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:10534	stomach cancer		ISO	RGD:1318284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:23033845
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:1115	sarcoma		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:13250	diarrhea		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:13580	cholestasis		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868|PMID:26678486
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:1318284	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18379143
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:1318284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ATP8B1-related disorder | ClinVar Annotator: match by term: Familial intrahepatic cholestasis | ClinVar Annotator: match by term: Intrahepatic cholestasis | ClinVar Annotator: match by term: Progressive intrahepatic cholestasis	PMID:10323248|PMID:11093741|PMID:11815775|PMID:12149765|PMID:14976163|PMID:15239083|PMID:15317749|PMID:15657619|PMID:15888793|PMID:17576681|PMID:1774530|PMID:18379143|PMID:18668687|PMID:18785905|PMID:18937870|PMID:19381753|PMID:19479804|PMID:19731236|PMID:19918981|PMID:20038848|PMID:20232290|PMID:20301474|PMID:21342337|PMID:21404481|PMID:22525741|PMID:24164717|PMID:24260417|PMID:24627769|PMID:25315773|PMID:25383786|PMID:25421123|PMID:25737299|PMID:25741868|PMID:26126923|PMID:26382629|PMID:26678486|PMID:26756876|PMID:26823041|PMID:27050426|PMID:27323140|PMID:27530795|PMID:27534385|PMID:28045770|PMID:28492532|PMID:28733223|PMID:28776642|PMID:28924228|PMID:28937026|PMID:29104077|PMID:29238877|PMID:29654655|PMID:30366773|PMID:31160058|PMID:31538484|PMID:31555573|PMID:32184942|PMID:32646411|PMID:32917322|PMID:32942997|PMID:33437900|PMID:33666275|PMID:33899189|PMID:34016879|PMID:34283821|PMID:34485338|PMID:34543749|PMID:34679599|PMID:34828443|PMID:34916336|PMID:34961929|PMID:34985190|PMID:35232966|PMID:35349344|PMID:35416773|PMID:35431768|PMID:35535061|PMID:35572954|PMID:35626323|PMID:35844336|PMID:36553407|PMID:37168916|PMID:37208429|PMID:37269902|PMID:37361697|PMID:37471416|PMID:37697751|PMID:39419571|PMID:39634245|PMID:39654666|PMID:39768432|PMID:40851490|PMID:40869443|PMID:41165782|PMID:9500542|PMID:9536098
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:1852	intrahepatic cholestasis	susceptibility	ISO	RGD:1318284	D	RGD:1599397|PMID:9500542	20070201	RGD			
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:630	genetic disease		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32917322
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:9001981	Weight Loss		ISO	RGD:1318284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:25741868
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:9004898	Jaundice		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:15239083|PMID:22525741|PMID:25741868|PMID:28492532
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:9006202	Pruritus		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pruritus	PMID:25741868|PMID:26678486
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:35535061
1308488	Atp8b1	ATPase phospholipid transporting 8B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:10534	stomach cancer		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:1115	sarcoma		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:1324	lung cancer		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:1909	melanoma		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:3070	high grade glioma		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:4362	cervical cancer		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318285	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:5041	esophageal cancer		ISO	RGD:1318285	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308489	Dennd4c	DENN domain containing 4C	gene	DOID:9256	colorectal cancer		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308490	Pcdh1	protocadherin 1	gene	DOID:10485	esophageal atresia		ISO	RGD:1318287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal Atresia	PMID:32641753
1308490	Pcdh1	protocadherin 1	gene	DOID:1324	lung cancer		ISO	RGD:1318287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308490	Pcdh1	protocadherin 1	gene	DOID:1909	melanoma		ISO	RGD:1318287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308490	Pcdh1	protocadherin 1	gene	DOID:2841	asthma		ISO	RGD:1318287	D	RGD:629122700|PMID:23050600	20251216	RGD		DNA:SNP: :rs7719391	
1308490	Pcdh1	protocadherin 1	gene	DOID:2841	asthma		ISO	RGD:1318287	D	RGD:629136816|PMID:19729670	20251218	RGD		DNA:indel, missense mutation, SNP:exon, intron:IVS3-116, p.A514T (rs3822357), p.A750A (rs3797054)	
1308490	Pcdh1	protocadherin 1	gene	DOID:2841	asthma	exacerbates	ISO	RGD:1318287	D	RGD:11052651|PMID:26227965	20251216	RGD		protein:decreased expression:epithelium of bronchus	
1308490	Pcdh1	protocadherin 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:1318287	D	RGD:629122701|PMID:23988763	20251216	RGD		DNA:SNPs:intron:rs6888135, rs10063472, rs1116776	
1308490	Pcdh1	protocadherin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318287	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308490	Pcdh1	protocadherin 1	gene	DOID:9002170	Experimental Neoplasms	treatment	ISO	RGD:1318287	D	RGD:629122711|PMID:39047401	20251216	RGD		associated with lung adenocarcinoma	
1308490	Pcdh1	protocadherin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308490	Pcdh1	protocadherin 1	gene	DOID:9006771	Chronic Rhinosinusitis	exacerbates	ISO	RGD:1318287	D	RGD:11052651|PMID:26227965	20251216	RGD		protein:decreased expression:ethmoid sinus	
1308490	Pcdh1	protocadherin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308490	Pcdh1	protocadherin 1	gene	DOID:9007356	Eczema		ISO	RGD:1318287	D	RGD:629136817|PMID:21929597	20251218	RGD		DNA:indel:intron:IVS3-116	
1308490	Pcdh1	protocadherin 1	gene	DOID:9009409	brain metastasis	disease_progression	ISO	RGD:1318287	D	RGD:629122711|PMID:39047401	20251216	RGD		associated with lung non-small cell carcinoma;protein:increased expression:brain	
1308490	Pcdh1	protocadherin 1	gene	DOID:9360	intrinsic asthma		ISO	RGD:1318287	D	RGD:629122700|PMID:23050600	20251216	RGD		DNA:SNPs: :rs2974704, rs11167761	
1308491	Nkd1	NKD inhibitor of WNT signaling pathway 1	gene	DOID:1115	sarcoma		ISO	RGD:1318289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308491	Nkd1	NKD inhibitor of WNT signaling pathway 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308491	Nkd1	NKD inhibitor of WNT signaling pathway 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308491	Nkd1	NKD inhibitor of WNT signaling pathway 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308492	Rpain	RPA interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308492	Rpain	RPA interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308492	Rpain	RPA interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1604268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308492	Rpain	RPA interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1604268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308492	Rpain	RPA interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308492	Rpain	RPA interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308492	Rpain	RPA interacting protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1604268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1308492	Rpain	RPA interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308492	Rpain	RPA interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308493	Cfap20	cilia and flagella associated protein 20	gene	DOID:0051098	retinitis pigmentosa 107		ISO	RGD:1605686	D	RGD:7240710	20260701	OMIM			
1308493	Cfap20	cilia and flagella associated protein 20	gene	DOID:0051098	retinitis pigmentosa 107		ISO	RGD:1605686	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 107	
1308493	Cfap20	cilia and flagella associated protein 20	gene	DOID:10534	stomach cancer		ISO	RGD:1605686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308493	Cfap20	cilia and flagella associated protein 20	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1605686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:35246562
1308493	Cfap20	cilia and flagella associated protein 20	gene	DOID:4362	cervical cancer		ISO	RGD:1605686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308493	Cfap20	cilia and flagella associated protein 20	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308493	Cfap20	cilia and flagella associated protein 20	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1605686	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1308493	Cfap20	cilia and flagella associated protein 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308494	Spast	spastin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308494	Spast	spastin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308494	Spast	spastin	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
1308494	Spast	spastin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:11843700|PMID:16832076|PMID:18701882|PMID:19875132|PMID:22960362|PMID:23252998|PMID:24824479|PMID:25045380|PMID:25741868|PMID:26467025|PMID:27334366|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:31594988|PMID:34983064|PMID:35487127
1308494	Spast	spastin	gene	DOID:0110773	hereditary spastic paraplegia 2		ISO	RGD:1318293	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 2	PMID:25741868
1308494	Spast	spastin	gene	DOID:0110792	hereditary spastic paraplegia 4		ISO	RGD:1318293	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308494	Spast	spastin	gene	DOID:0110792	hereditary spastic paraplegia 4		ISO	RGD:1318293	D	RGD:7240710	20130221	OMIM			
1308494	Spast	spastin	gene	DOID:0110792	hereditary spastic paraplegia 4		ISO	RGD:1318293	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of	PMID:10493830|PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12163196|PMID:12202986|PMID:12471215|PMID:12552568|PMID:12736085|PMID:12939659|PMID:14732620|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15637712|PMID:15667412|PMID:15716377|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17560499|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18410514|PMID:18608088|PMID:18613979|PMID:18664244|PMID:18701882|PMID:18975132|PMID:19423133|PMID:19438933|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20430936|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20843780|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21888932|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23279441|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24033266|PMID:24215330|PMID:24381312|PMID:24451228|PMID:24478365|PMID:24690193|PMID:24731568|PMID:24824479|PMID:25045380|PMID:25065914|PMID:25326635|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27942873|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28495799|PMID:28572275|PMID:29112992|PMID:29246610|PMID:29389947|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29908077|PMID:29934652|PMID:29980238|PMID:30476002|PMID:30520996|PMID:30564185|PMID:30780198|PMID:31134136|PMID:31157359|PMID:31227335|PMID:31407473|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32989326|PMID:33098801|PMID:33624935|PMID:34008892|PMID:9536098|PMID:9695811
1308494	Spast	spastin	gene	DOID:0110792	hereditary spastic paraplegia 4		ISO	RGD:1318293	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of	PMID:10493830|PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12163196|PMID:12202986|PMID:12471215|PMID:12552568|PMID:12736085|PMID:12939659|PMID:14732620|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15637712|PMID:15667412|PMID:15716377|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598599|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18664244|PMID:18701882|PMID:18975132|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19494379|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20430936|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20843780|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21888932|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23238845|PMID:23252998|PMID:23264559|PMID:23279441|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24033266|PMID:24215330|PMID:24381312|PMID:24417445|PMID:24451228|PMID:24478365|PMID:24648003|PMID:24690193|PMID:24731568|PMID:24824479|PMID:25045380|PMID:25065914|PMID:25326635|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27077743|PMID:27084228|PMID:27108959|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27942873|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28495799|PMID:28572275|PMID:29112992|PMID:29246610|PMID:29389947|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29907907|PMID:29908077|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30375765|PMID:30476002|PMID:30489674|PMID:30520996|PMID:30528841|PMID:30564185|PMID:30747022|PMID:30778698|PMID:31134136|PMID:31157359|PMID:31227335|PMID:31407473|PMID:31594988|PMID:31630374|PMID:31692161|PMID:31751864|PMID:31851166|PMID:32092540|PMID:32522921|PMID:32650125|PMID:32655478|PMID:32908740|PMID:32989326|PMID:33098801|PMID:33446253|PMID:33624935|PMID:33638609|PMID:34008892|PMID:34114234|PMID:34507445|PMID:34753439|PMID:35303589|PMID:9536098
1308494	Spast	spastin	gene	DOID:0110792	hereditary spastic paraplegia 4		ISO	RGD:1318293	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: SPAST-related condition | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 4 | ClinVar Annotator: match by term: Spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant	PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12460147|PMID:12552568|PMID:12939659|PMID:14732620|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15269182|PMID:15482961|PMID:15637712|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17560499|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17690846|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18410514|PMID:18664244|PMID:18701882|PMID:19289482|PMID:19423133|PMID:19494379|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21896784|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22960362|PMID:23238845|PMID:23252998|PMID:23264559|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24381312|PMID:24417445|PMID:24451228|PMID:24478365|PMID:24690193|PMID:24731568|PMID:24824479|PMID:25045380|PMID:25065914|PMID:25131622|PMID:25315759|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25611737|PMID:25640679|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26297558|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27077743|PMID:27084228|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27942873|PMID:27957547|PMID:28492532|PMID:28495799|PMID:28572275|PMID:28778789|PMID:29246610|PMID:29389947|PMID:29691679|PMID:29761117|PMID:29907907|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30213879|PMID:30375765|PMID:30476002|PMID:30528841|PMID:30564185|PMID:30747022|PMID:31157359|PMID:31227335|PMID:31594988|PMID:31630374|PMID:31692161|PMID:31751864|PMID:32092540|PMID:32277485|PMID:32522921|PMID:32655478|PMID:32979422|PMID:32989326|PMID:33098801|PMID:33179235|PMID:33446253|PMID:33480217|PMID:33589474|PMID:33770234|PMID:34008892|PMID:34114234|PMID:34353391|PMID:34507445|PMID:34816117|PMID:34906502|PMID:34983064|PMID:35020098|PMID:35082646|PMID:35303589|PMID:35487127|PMID:35499206|PMID:35578252|PMID:36109173|PMID:36537231|PMID:37091313|PMID:37251230|PMID:37563452|PMID:37712079|PMID:38145127|PMID:38301322|PMID:38631813|PMID:38883204|PMID:39334479|PMID:9536098|PMID:9695811
1308494	Spast	spastin	gene	DOID:0110792	hereditary spastic paraplegia 4		ISS	RGD:1623254	D	RGD:13592920	20230718	MouseDO		OMIM:182601	
1308494	Spast	spastin	gene	DOID:1115	sarcoma		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308494	Spast	spastin	gene	DOID:1324	lung cancer		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308494	Spast	spastin	gene	DOID:1459	hypothyroidism		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	
1308494	Spast	spastin	gene	DOID:1826	epilepsy		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20932283|PMID:28492532|PMID:31751864
1308494	Spast	spastin	gene	DOID:1909	melanoma		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308494	Spast	spastin	gene	DOID:1969	cerebral palsy		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532|PMID:30564185
1308494	Spast	spastin	gene	DOID:2219	Glanzmann's thrombasthenia		ISO	RGD:1318293	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2	PMID:11015453|PMID:11809724|PMID:15248095|PMID:15326248|PMID:16832076|PMID:17594340|PMID:17895902|PMID:17916079|PMID:18608088|PMID:18613979|PMID:18701882|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20562464|PMID:20665701|PMID:20718791|PMID:22817815|PMID:23252998|PMID:25326637|PMID:25341883|PMID:25741868|PMID:26467025|PMID:27084228|PMID:27334366|PMID:28492532|PMID:28572275|PMID:34008892
1308494	Spast	spastin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1318293	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:10610178|PMID:10699187|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11309678|PMID:11809724|PMID:11843700|PMID:12124993|PMID:12161613|PMID:12552568|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15716377|PMID:15841487|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16832076|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18701882|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20932283|PMID:21834905|PMID:21888932|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23264559|PMID:24033003|PMID:24033266|PMID:24381312|PMID:24451228|PMID:24857849|PMID:25045380|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27229699|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27957547|PMID:28492532|PMID:28572275|PMID:28832565|PMID:29112992|PMID:29246610|PMID:29421991|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30528841|PMID:30564185|PMID:30778698|PMID:31157359|PMID:31227335|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32092540|PMID:33624935|PMID:34008892|PMID:34753439|PMID:9536098
1308494	Spast	spastin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1318293	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:10610178|PMID:10699187|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11309678|PMID:11809724|PMID:11843700|PMID:12124993|PMID:12161613|PMID:12552568|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15716377|PMID:15841487|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16832076|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18701882|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20932283|PMID:21834905|PMID:21888932|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23264559|PMID:23400676|PMID:24033003|PMID:24033266|PMID:24381312|PMID:24451228|PMID:24857849|PMID:25045380|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27229699|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27957547|PMID:28492532|PMID:28572275|PMID:28832565|PMID:29112992|PMID:29246610|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30528841|PMID:30564185|PMID:30778698|PMID:31157359|PMID:31227335|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32092540|PMID:33624935|PMID:34008892|PMID:34753439|PMID:9536098
1308494	Spast	spastin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1318293	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Autosomal dominant hereditary spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:10610178|PMID:10699187|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11309678|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12124993|PMID:12161613|PMID:12552568|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15716377|PMID:15841487|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16832076|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18410514|PMID:18608088|PMID:18613979|PMID:18701882|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19730024|PMID:19875132|PMID:20154342|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20491894|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20932283|PMID:21270786|PMID:21834905|PMID:21888932|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23264559|PMID:23400676|PMID:24033003|PMID:24033266|PMID:24381312|PMID:24451228|PMID:24453961|PMID:24857849|PMID:25045380|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26094131|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:26986070|PMID:27084228|PMID:27108959|PMID:27229699|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27957547|PMID:27981572|PMID:28492532|PMID:28572275|PMID:28832565|PMID:29112992|PMID:29246610|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30008175|PMID:30476002|PMID:30528841|PMID:30564185|PMID:30778698|PMID:30937429|PMID:31157359|PMID:31227335|PMID:31285604|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32092540|PMID:33397523|PMID:33624935|PMID:34008892|PMID:34445196|PMID:34753439|PMID:34950521|PMID:34983064|PMID:35487127|PMID:35578252|PMID:35599849|PMID:36139378|PMID:37144097|PMID:37251230|PMID:37473796|PMID:39825153|PMID:9536098
1308494	Spast	spastin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1318293	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:10699187|PMID:11039577|PMID:11985387|PMID:15159500|PMID:15841487|PMID:16055926|PMID:16199547|PMID:16476945|PMID:16682546|PMID:16832076|PMID:17576681|PMID:17597328|PMID:17690846|PMID:17971434|PMID:18701882|PMID:19289482|PMID:19423133|PMID:20214791|PMID:20562464|PMID:20718791|PMID:20932283|PMID:21834905|PMID:22552817|PMID:24381312|PMID:25045380|PMID:25421405|PMID:25741868|PMID:26374131|PMID:26467025|PMID:27084228|PMID:27957547|PMID:28492532|PMID:28572275|PMID:28832565|PMID:29691679|PMID:29980238|PMID:30476002|PMID:30528841|PMID:31157359|PMID:31751864|PMID:34983064|PMID:35487127|PMID:35578252|PMID:37251230|PMID:9536098
1308494	Spast	spastin	gene	DOID:2769	tic disorder		ISO	RGD:1318293	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tic disorder	PMID:11039577|PMID:16788734|PMID:17100993|PMID:17971434|PMID:25741868|PMID:28492532|PMID:32989326
1308494	Spast	spastin	gene	DOID:3275	thymoma		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1308494	Spast	spastin	gene	DOID:4362	cervical cancer		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308494	Spast	spastin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1308494	Spast	spastin	gene	DOID:535	sleep disorder		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	
1308494	Spast	spastin	gene	DOID:543	dystonia		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:28492532|PMID:30564185
1308494	Spast	spastin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1308494	Spast	spastin	gene	DOID:607	paraplegia		ISO	RGD:1318293	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:11309678|PMID:11359470|PMID:15841487|PMID:16199547|PMID:17100993|PMID:17576681|PMID:17971434|PMID:20718791|PMID:20932283|PMID:22960362|PMID:23833562|PMID:24033003|PMID:24824479|PMID:25341883|PMID:25741868|PMID:26208798|PMID:26467025|PMID:27688599|PMID:28492532|PMID:28572275|PMID:30006150|PMID:30476002|PMID:30564185|PMID:31227335|PMID:31594988|PMID:31630374|PMID:34983064|PMID:37091313|PMID:9536098
1308494	Spast	spastin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1308494	Spast	spastin	gene	DOID:630	genetic disease		ISO	RGD:1318293	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12202986|PMID:14732620|PMID:20932283|PMID:25131622|PMID:25741868|PMID:26208798|PMID:26467025|PMID:27084228|PMID:28492532|PMID:30476002|PMID:33084218
1308494	Spast	spastin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308494	Spast	spastin	gene	DOID:9001722	Dysarthria		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
1308494	Spast	spastin	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:25741868
1308494	Spast	spastin	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318293	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1308494	Spast	spastin	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318293	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308494	Spast	spastin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:11309678|PMID:12161613|PMID:16240363|PMID:18701882|PMID:19875132|PMID:20562464|PMID:20932283|PMID:21834905|PMID:22552817|PMID:22960362|PMID:25741868|PMID:25741869|PMID:26094131|PMID:26467025|PMID:26600529|PMID:27334366|PMID:28492532|PMID:29934652|PMID:29980238|PMID:31227335|PMID:31594988|PMID:31630374|PMID:31751864|PMID:39825153
1308494	Spast	spastin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318293	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:20932283|PMID:28492532|PMID:31751864
1308494	Spast	spastin	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:20932283
1308494	Spast	spastin	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:20932283|PMID:28492532|PMID:31751864
1308494	Spast	spastin	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1318293	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:10699187|PMID:17597328|PMID:18701882|PMID:20718791|PMID:24381312|PMID:25741868|PMID:26467025|PMID:27084228|PMID:28492532|PMID:30564185|PMID:37251230
1308494	Spast	spastin	gene	DOID:9007661	Dwarfism		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1308494	Spast	spastin	gene	DOID:9007892	Tics		ISO	RGD:1318293	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Motor tics | ClinVar Annotator: match by term: Tics	PMID:11039577|PMID:16788734|PMID:17100993|PMID:17971434|PMID:25741868|PMID:28492532|PMID:32989326
1308494	Spast	spastin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318293	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1308494	Spast	spastin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308494	Spast	spastin	gene	DOID:9834	hyperopia		ISO	RGD:1318293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:20932283|PMID:28492532|PMID:31751864
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:0070314	obstructive nephropathy		ISS	RGD:1616767	D	RGD:13592920	20230718	MouseDO			
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:0070453	xanthinuria type II		ISO	RGD:1318297	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:29935280
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:0070453	xanthinuria type II		ISO	RGD:1318297	D	RGD:7240710	20190315	OMIM			
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:0070453	xanthinuria type II		ISO	RGD:1318297	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MOCOS-related condition | ClinVar Annotator: match by term: XANTHINURIA, TYPE II | ClinVar Annotator: match by term: Xanthinuria type II	PMID:11302742|PMID:16199547|PMID:17368066|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29935280|PMID:34356852|PMID:9536098
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:0070453	xanthinuria type II		ISS	RGD:1616767	D	RGD:13592920	20230810	MouseDO		OMIM:603592	
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:10534	stomach cancer		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:1115	sarcoma		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:12450	pancytopenia		ISO	RGD:1318297	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:29935280
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:12712	nephronophthisis		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:25741868
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:1324	lung cancer		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:1909	melanoma		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:2977	primary hyperoxaluria		ISO	RGD:1318297	D	RGD:8554872	20200609	ClinVar		ClinVar Annotator: match by term: Primary hyperoxaluria	PMID:25741868
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:3275	thymoma		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318297	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:865	vasculitis		ISO	RGD:1318297	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:29935280
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1318297	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:29935280
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308496	Mocos	molybdenum cofactor sulfurase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1308497	Kif20b	kinesin family member 20B	gene	DOID:0060058	lymphoma		ISO	RGD:1318298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308497	Kif20b	kinesin family member 20B	gene	DOID:10907	microcephaly		ISS	RGD:1318299	D	RGD:13592920	20180518	MouseDO		OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703	
1308497	Kif20b	kinesin family member 20B	gene	DOID:1115	sarcoma		ISO	RGD:1318298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308497	Kif20b	kinesin family member 20B	gene	DOID:1909	melanoma		ISO	RGD:1318298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308497	Kif20b	kinesin family member 20B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308497	Kif20b	kinesin family member 20B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308497	Kif20b	kinesin family member 20B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308497	Kif20b	kinesin family member 20B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308497	Kif20b	kinesin family member 20B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308497	Kif20b	kinesin family member 20B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308497	Kif20b	kinesin family member 20B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308497	Kif20b	kinesin family member 20B	gene	DOID:9256	colorectal cancer		ISO	RGD:1318298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308498	Ogfrl1	opioid growth factor receptor-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308498	Ogfrl1	opioid growth factor receptor-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308498	Ogfrl1	opioid growth factor receptor-like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308498	Ogfrl1	opioid growth factor receptor-like 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308498	Ogfrl1	opioid growth factor receptor-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308498	Ogfrl1	opioid growth factor receptor-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308499	Sp5	Sp5 transcription factor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318302	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1308500	Rai1	retinoic acid induced 1	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1318304	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868
1308500	Rai1	retinoic acid induced 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308500	Rai1	retinoic acid induced 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20981775
1308500	Rai1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15459175|PMID:15746153|PMID:15788730|PMID:16845274|PMID:17273973|PMID:17517686|PMID:18285828|PMID:19116176|PMID:19236431|PMID:19752160|PMID:20691407|PMID:20981775
1308500	Rai1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:1599405|PMID:12652298	20070201	RGD		DNA:deletions, frameshift mutations:cds:	
1308500	Rai1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:7240710	20130221	OMIM			
1308500	Rai1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome | ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:12652298|PMID:15788730|PMID:21857958|PMID:22578325|PMID:24033266|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28135719|PMID:28166811|PMID:28492532|PMID:29758562|PMID:31690835
1308500	Rai1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:12652298|PMID:15788730|PMID:18414213|PMID:21857958|PMID:22578325|PMID:24033266|PMID:24715852|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28057753|PMID:28135719|PMID:28492532|PMID:29458409|PMID:29758562|PMID:29794985|PMID:31690835|PMID:32343762|PMID:35887114|PMID:8841119
1308500	Rai1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:12652298|PMID:15788730|PMID:18414213|PMID:21857958|PMID:22578325|PMID:24033266|PMID:24715852|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28057753|PMID:28492532|PMID:29458409|PMID:29758562|PMID:29794985|PMID:31690835|PMID:32343762|PMID:35887114|PMID:8841119
1308500	Rai1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHROMOSOME 17p11.2 DELETION SYNDROME | ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome | ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: SMITH-MAGENIS SYNDROME | ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:12652290|PMID:15565467|PMID:15788730|PMID:21857958|PMID:24033266|PMID:24715852|PMID:25741868|PMID:26467025|PMID:28057753|PMID:28492532|PMID:29458409|PMID:29758562|PMID:29794985|PMID:31690835|PMID:35887114|PMID:8401506|PMID:8841119
1308500	Rai1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISS	RGD:1318305	D	RGD:13592920	20230718	MouseDO		OMIM:182290	
1308500	Rai1	retinoic acid induced 1	gene	DOID:0060853	Potocki-Lupski syndrome		ISO	RGD:1318304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17517686
1308500	Rai1	retinoic acid induced 1	gene	DOID:0060853	Potocki-Lupski syndrome		ISS	RGD:1318305	D	RGD:13592920	20240425	MouseDO		OMIM:610883	
1308500	Rai1	retinoic acid induced 1	gene	DOID:0110535	autosomal recessive nonsyndromic deafness 9		ISO	RGD:1318304	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 9	PMID:25741868|PMID:27082237|PMID:28492532
1308500	Rai1	retinoic acid induced 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308500	Rai1	retinoic acid induced 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19752160
1308500	Rai1	retinoic acid induced 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318304	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25167861|PMID:25741868
1308500	Rai1	retinoic acid induced 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
1308500	Rai1	retinoic acid induced 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308500	Rai1	retinoic acid induced 1	gene	DOID:1115	sarcoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308500	Rai1	retinoic acid induced 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318304	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1308500	Rai1	retinoic acid induced 1	gene	DOID:1324	lung cancer		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308500	Rai1	retinoic acid induced 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	
1308500	Rai1	retinoic acid induced 1	gene	DOID:178	vascular disease		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular disorder	
1308500	Rai1	retinoic acid induced 1	gene	DOID:1826	epilepsy		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1308500	Rai1	retinoic acid induced 1	gene	DOID:1909	melanoma		ISO	RGD:1318304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1308500	Rai1	retinoic acid induced 1	gene	DOID:1909	melanoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308500	Rai1	retinoic acid induced 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1318304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18285828
1308500	Rai1	retinoic acid induced 1	gene	DOID:2769	tic disorder		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phonic tics	PMID:25741868
1308500	Rai1	retinoic acid induced 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308500	Rai1	retinoic acid induced 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308500	Rai1	retinoic acid induced 1	gene	DOID:535	sleep disorder		ISO	RGD:1318304	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sleep disorder	PMID:25741868
1308500	Rai1	retinoic acid induced 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308500	Rai1	retinoic acid induced 1	gene	DOID:630	genetic disease		ISO	RGD:1318304	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12652298|PMID:15565467|PMID:15788730|PMID:21857958|PMID:24033266|PMID:25741868|PMID:25954003|PMID:26467025|PMID:27618451|PMID:28057753|PMID:28490743|PMID:28492532|PMID:8841119
1308500	Rai1	retinoic acid induced 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
1308500	Rai1	retinoic acid induced 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
1308500	Rai1	retinoic acid induced 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1308500	Rai1	retinoic acid induced 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1308500	Rai1	retinoic acid induced 1	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:1318304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18285828
1308500	Rai1	retinoic acid induced 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
1308500	Rai1	retinoic acid induced 1	gene	DOID:9002111	Dyssomnias		ISO	RGD:1318304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19752160
1308500	Rai1	retinoic acid induced 1	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1318304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19116176
1308500	Rai1	retinoic acid induced 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318304	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308500	Rai1	retinoic acid induced 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308500	Rai1	retinoic acid induced 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24715852|PMID:25741868
1308500	Rai1	retinoic acid induced 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318304	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1308500	Rai1	retinoic acid induced 1	gene	DOID:9006257	Growth Disorders		ISO	RGD:1318304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18285828
1308500	Rai1	retinoic acid induced 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308500	Rai1	retinoic acid induced 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1308500	Rai1	retinoic acid induced 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1318304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19116176
1308500	Rai1	retinoic acid induced 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318304	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1308500	Rai1	retinoic acid induced 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318304	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
1308500	Rai1	retinoic acid induced 1	gene	DOID:9970	obesity		ISO	RGD:1318304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15459175|PMID:19116176
1308500	Rai1	retinoic acid induced 1	gene	DOID:9970	obesity		ISO	RGD:1318304	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1308501	Ppm1k	protein phosphatase, Mg2+/Mn2+ dependent, 1K	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308501	Ppm1k	protein phosphatase, Mg2+/Mn2+ dependent, 1K	gene	DOID:0061205	mild variant of maple syrup urine disease		ISO	RGD:1353112	D	RGD:7240710	20251105	OMIM			
1308501	Ppm1k	protein phosphatase, Mg2+/Mn2+ dependent, 1K	gene	DOID:0061205	mild variant of maple syrup urine disease		ISO	RGD:1353112	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, MILD VARIANT | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant | ClinVar Annotator: match by term: PPM1K-related condition	PMID:17576681|PMID:23086801|PMID:25741868|PMID:28492532|PMID:40047138|PMID:9536098
1308501	Ppm1k	protein phosphatase, Mg2+/Mn2+ dependent, 1K	gene	DOID:0061205	mild variant of maple syrup urine disease		ISS	RGD:1552216	D	RGD:13592920	20260129	MouseDO		OMIM:615135	
1308501	Ppm1k	protein phosphatase, Mg2+/Mn2+ dependent, 1K	gene	DOID:1115	sarcoma		ISO	RGD:1353112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308501	Ppm1k	protein phosphatase, Mg2+/Mn2+ dependent, 1K	gene	DOID:3275	thymoma		ISO	RGD:1353112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308501	Ppm1k	protein phosphatase, Mg2+/Mn2+ dependent, 1K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308501	Ppm1k	protein phosphatase, Mg2+/Mn2+ dependent, 1K	gene	DOID:6000	congestive heart failure		ISO	RGD:1353112	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
1308501	Ppm1k	protein phosphatase, Mg2+/Mn2+ dependent, 1K	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308501	Ppm1k	protein phosphatase, Mg2+/Mn2+ dependent, 1K	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1353112	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308501	Ppm1k	protein phosphatase, Mg2+/Mn2+ dependent, 1K	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1353112	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease, mild variant	PMID:17576681|PMID:23086801|PMID:25741868|PMID:28492532|PMID:9536098
1308501	Ppm1k	protein phosphatase, Mg2+/Mn2+ dependent, 1K	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1353112	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant | ClinVar Annotator: match by term: PPM1K-related condition	PMID:17576681|PMID:23086801|PMID:25741868|PMID:28492532|PMID:36706222|PMID:9536098
1308502	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308502	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308502	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:3275	thymoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308502	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308502	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308502	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308502	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308502	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308502	Trub1	TruB pseudouridine synthase family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308503	Rbm38	RNA binding motif protein 38	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1318308	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: therapeutic	PMID:34453780
1308503	Rbm38	RNA binding motif protein 38	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318308	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: therapeutic	PMID:34453780
1308506	Srp14	signal recognition particle 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308506	Srp14	signal recognition particle 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308506	Srp14	signal recognition particle 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308506	Srp14	signal recognition particle 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308507	Arhgap5	Rho GTPase activating protein 5	gene	DOID:0111586	Martsolf syndrome 1		ISO	RGD:1318315	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Martsolf syndrome 1	PMID:25741868
1308507	Arhgap5	Rho GTPase activating protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308507	Arhgap5	Rho GTPase activating protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1318315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308507	Arhgap5	Rho GTPase activating protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1318315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308507	Arhgap5	Rho GTPase activating protein 5	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1318315	D	RGD:11056278|PMID:25961434	20210429	RGD		associated with nasopharynx carcinoma;mRNA, protein:increased expression: epithelium of nasopharynx	
1308507	Arhgap5	Rho GTPase activating protein 5	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1318315	D	RGD:11554173	20230606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36914835
1308507	Arhgap5	Rho GTPase activating protein 5	gene	DOID:9005233	Experimental Mammary Neoplasms		IEP		D	RGD:2316183|PMID:10939588	20210429	RGD		mRNA:increased expression:mammary gland	
1308507	Arhgap5	Rho GTPase activating protein 5	gene	DOID:9005233	Experimental Mammary Neoplasms	disease_progression	ISO	RGD:1318316	D	RGD:126848766|PMID:19703301	20210429	RGD			
1308507	Arhgap5	Rho GTPase activating protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318315	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308507	Arhgap5	Rho GTPase activating protein 5	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1318315	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Pulmonary artery atresia	
1308507	Arhgap5	Rho GTPase activating protein 5	gene	DOID:9009121	lung metastasis		ISO	RGD:1318316	D	RGD:126848767|PMID:20860838	20210429	RGD		associated with Mammary Neoplasms, Experimental	
1308509	Hbs1l	HBS1-like translational GTPase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308509	Hbs1l	HBS1-like translational GTPase	gene	DOID:10534	stomach cancer		ISO	RGD:1318318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308509	Hbs1l	HBS1-like translational GTPase	gene	DOID:1115	sarcoma		ISO	RGD:1318318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308509	Hbs1l	HBS1-like translational GTPase	gene	DOID:12241	beta thalassemia		ISO	RGD:1318318	D	RGD:11353877|PMID:18839276	20160726	RGD		DNA:SNP:exon:32C>T (human)	
1308509	Hbs1l	HBS1-like translational GTPase	gene	DOID:1324	lung cancer		ISO	RGD:1318318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308509	Hbs1l	HBS1-like translational GTPase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308509	Hbs1l	HBS1-like translational GTPase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308509	Hbs1l	HBS1-like translational GTPase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308509	Hbs1l	HBS1-like translational GTPase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308509	Hbs1l	HBS1-like translational GTPase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308509	Hbs1l	HBS1-like translational GTPase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308509	Hbs1l	HBS1-like translational GTPase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308510	Mypn	myopalladin	gene	DOID:0050450	Gitelman syndrome		ISO	RGD:1318320	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria	PMID:25741868|PMID:28492532
1308510	Mypn	myopalladin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: cardiomyopathy	PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
1308510	Mypn	myopalladin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: cardiomyopathy	PMID:22286171|PMID:22892539|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28087566|PMID:28492532|PMID:28798025|PMID:30775854|PMID:30847666|PMID:32826072|PMID:33802723|PMID:34935411|PMID:35885997
1308510	Mypn	myopalladin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308510	Mypn	myopalladin	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1318320	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
1308510	Mypn	myopalladin	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:32880476
1308510	Mypn	myopalladin	gene	DOID:0081337	congenital myopathy		ISO	RGD:1318320	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:16199547|PMID:25741868|PMID:25741902|PMID:28017374|PMID:28492532
1308510	Mypn	myopalladin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1318320	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:25741868|PMID:28492532|PMID:32880476
1308510	Mypn	myopalladin	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:25741868|PMID:28492532
1308510	Mypn	myopalladin	gene	DOID:0110443	dilated cardiomyopathy 1B		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial	PMID:22286171|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532
1308510	Mypn	myopalladin	gene	DOID:0110445	dilated cardiomyopathy 1KK		ISO	RGD:1318320	D	RGD:7240710	20141022	OMIM			
1308510	Mypn	myopalladin	gene	DOID:0110445	dilated cardiomyopathy 1KK		ISO	RGD:1318320	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1KK | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK | ClinVar Annotator: match by term: MYPN-related condition	PMID:16199547|PMID:17576681|PMID:18006477|PMID:19466753|PMID:21455759|PMID:22286171|PMID:22337857|PMID:22892539|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26350513|PMID:26458567|PMID:27532257|PMID:27896284|PMID:28017374|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28798025|PMID:30165862|PMID:30260051|PMID:30471092|PMID:30775854|PMID:30847666|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32140910|PMID:32746448|PMID:32826072|PMID:32880476|PMID:33658040|PMID:33662488|PMID:33802723|PMID:33906374|PMID:33954932|PMID:34184449|PMID:34302607|PMID:34935411|PMID:35026164|PMID:35885997|PMID:38540378|PMID:9536098
1308510	Mypn	myopalladin	gene	DOID:0110933	nemaline myopathy 11		ISO	RGD:1318320	D	RGD:7240710	20190315	OMIM			
1308510	Mypn	myopalladin	gene	DOID:0110933	nemaline myopathy 11		ISO	RGD:1318320	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: MYPN-related myopathy | ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive	PMID:17576681|PMID:18006477|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24558114|PMID:25741868|PMID:25741905|PMID:26498160|PMID:26899768|PMID:27896284|PMID:28017374|PMID:28220527|PMID:28416588|PMID:28427417|PMID:28492532|PMID:29247119|PMID:29447731|PMID:30471092|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31983221|PMID:32880476|PMID:33297573|PMID:33906374|PMID:34088380|PMID:34184449|PMID:34797172|PMID:35026164|PMID:35581137|PMID:36178741|PMID:36935760|PMID:9536098
1308510	Mypn	myopalladin	gene	DOID:0110933	nemaline myopathy 11		ISO	RGD:1318320	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 24 | ClinVar Annotator: match by term: MYPN-related myopathy | ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive	PMID:17576681|PMID:22286171|PMID:22892539|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26458567|PMID:27532257|PMID:28017374|PMID:28087566|PMID:28492532|PMID:28798025|PMID:30260051|PMID:30775854|PMID:30847666|PMID:31983221|PMID:33802723|PMID:33906374|PMID:33954932|PMID:34302607|PMID:35026164|PMID:35885997|PMID:9536098
1308510	Mypn	myopalladin	gene	DOID:0110933	nemaline myopathy 11		ISS	RGD:1551017	D	RGD:13592920	20230718	MouseDO		OMIM:617336	
1308510	Mypn	myopalladin	gene	DOID:10534	stomach cancer		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308510	Mypn	myopalladin	gene	DOID:1115	sarcoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308510	Mypn	myopalladin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31513939
1308510	Mypn	myopalladin	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
1308510	Mypn	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:31333075|PMID:31568572
1308510	Mypn	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:30847666|PMID:31333075|PMID:31568572
1308510	Mypn	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26383259|PMID:26498160|PMID:26899768|PMID:27194543|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:30764827|PMID:30847666|PMID:31333075|PMID:31524317|PMID:31568572|PMID:32880476|PMID:33049752|PMID:34797172|PMID:35581137|PMID:36178741|PMID:36935760|PMID:37936622
1308510	Mypn	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26383259|PMID:26498160|PMID:26899768|PMID:27194543|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:29773157|PMID:30012837|PMID:30764827|PMID:30847666|PMID:31333075|PMID:31524317|PMID:31568572|PMID:31983221|PMID:32826072|PMID:32880476|PMID:33049752|PMID:34797172|PMID:35581137|PMID:36178741|PMID:36935760|PMID:37904629|PMID:37936622
1308510	Mypn	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, dilated | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26383259|PMID:27194543|PMID:28416588|PMID:28492532|PMID:29773157|PMID:30012837|PMID:30764827|PMID:30847666|PMID:31333075|PMID:31524317|PMID:31568572|PMID:37904629|PMID:37936622
1308510	Mypn	myopalladin	gene	DOID:1324	lung cancer		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308510	Mypn	myopalladin	gene	DOID:1909	melanoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308510	Mypn	myopalladin	gene	DOID:1969	cerebral palsy		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cerebral palsy	PMID:25741868
1308510	Mypn	myopalladin	gene	DOID:2843	long QT syndrome		ISO	RGD:1318320	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Long QT Syndrome	PMID:25741868|PMID:28492532
1308510	Mypn	myopalladin	gene	DOID:3191	nemaline myopathy		ISO	RGD:1318320	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy	PMID:25741868|PMID:28220527
1308510	Mypn	myopalladin	gene	DOID:3275	thymoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308510	Mypn	myopalladin	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Restrictive cardiomyopathy	PMID:25741868|PMID:28492532|PMID:30775854|PMID:31568572
1308510	Mypn	myopalladin	gene	DOID:397	restrictive cardiomyopathy		ISS	RGD:1551017	D	RGD:13592920	20180518	MouseDO		OMIM:115210 | OMIM:609578 | OMIM:612422 | OMIM:615248	
1308510	Mypn	myopalladin	gene	DOID:4362	cervical cancer		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308510	Mypn	myopalladin	gene	DOID:5041	esophageal cancer		ISO	RGD:1318320	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308510	Mypn	myopalladin	gene	DOID:6000	congestive heart failure		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Heart failure	PMID:22286171|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532
1308510	Mypn	myopalladin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308510	Mypn	myopalladin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1308510	Mypn	myopalladin	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1318320	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868|PMID:28492532|PMID:29447731|PMID:30847666|PMID:31110529|PMID:33297573
1308510	Mypn	myopalladin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1308510	Mypn	myopalladin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308510	Mypn	myopalladin	gene	DOID:9007820	Sudden Death		ISO	RGD:1318320	D	RGD:8554872	20200310	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	PMID:25741868|PMID:28492532
1308510	Mypn	myopalladin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308511	Adamts8	ADAM metallopeptidase with thrombospondin type 1 motif, 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308511	Adamts8	ADAM metallopeptidase with thrombospondin type 1 motif, 8	gene	DOID:10534	stomach cancer		ISO	RGD:1318322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308511	Adamts8	ADAM metallopeptidase with thrombospondin type 1 motif, 8	gene	DOID:1115	sarcoma		ISO	RGD:1318322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308511	Adamts8	ADAM metallopeptidase with thrombospondin type 1 motif, 8	gene	DOID:13501	Moebius syndrome		ISO	RGD:1318322	D	RGD:8554872	20161011	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	
1308511	Adamts8	ADAM metallopeptidase with thrombospondin type 1 motif, 8	gene	DOID:4362	cervical cancer		ISO	RGD:1318322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308511	Adamts8	ADAM metallopeptidase with thrombospondin type 1 motif, 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308511	Adamts8	ADAM metallopeptidase with thrombospondin type 1 motif, 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308511	Adamts8	ADAM metallopeptidase with thrombospondin type 1 motif, 8	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318322	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:0060249	scoliosis		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:0111637	autosomal recessive nonsyndromic deafness 112		ISO	RGD:1318324	D	RGD:7240710	20190315	OMIM			
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:0111637	autosomal recessive nonsyndromic deafness 112		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BDP1-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 112	PMID:25741868|PMID:26467025
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:11111	hydronephrosis		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:1115	sarcoma		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:1324	lung cancer		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:1909	melanoma		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:1969	cerebral palsy		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:2394	ovarian cancer		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:3275	thymoma		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:4189	mutism		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	PMID:25741868
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318324	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1318324	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:9001581	Constipation		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:9001722	Dysarthria		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:30311386
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:9008681	Deafness		ISO	RGD:1318324	D	RGD:8554872	20200310	ClinVar		ClinVar Annotator: match by term: Deafness	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308512	Bdp1	BDP1 general transcription factor IIIB subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:0090069	giant axonal neuropathy 2		ISO	RGD:1349472	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:0090069	giant axonal neuropathy 2		ISO	RGD:1349472	D	RGD:7240710	20141015	OMIM			
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:0090069	giant axonal neuropathy 2		ISO	RGD:1349472	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DCAF8-related condition | ClinVar Annotator: match by term: Giant axonal neuropathy 2	PMID:25741868|PMID:28492532
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:1349472	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis, type 1	
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:1324	lung cancer		ISO	RGD:1349472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:3275	thymoma		ISO	RGD:1349472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1349472	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308513	Dcaf8	DDB1 and CUL4 associated factor 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308514	Sema3f	semaphorin 3F	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308514	Sema3f	semaphorin 3F	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1318327	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia	PMID:25741868
1308514	Sema3f	semaphorin 3F	gene	DOID:10534	stomach cancer		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308514	Sema3f	semaphorin 3F	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308514	Sema3f	semaphorin 3F	gene	DOID:1115	sarcoma		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308514	Sema3f	semaphorin 3F	gene	DOID:1909	melanoma		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308514	Sema3f	semaphorin 3F	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1318327	D	RGD:8554872	20220104	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
1308514	Sema3f	semaphorin 3F	gene	DOID:2394	ovarian cancer		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308514	Sema3f	semaphorin 3F	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308514	Sema3f	semaphorin 3F	gene	DOID:4362	cervical cancer		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308514	Sema3f	semaphorin 3F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308514	Sema3f	semaphorin 3F	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318327	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
1308514	Sema3f	semaphorin 3F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308514	Sema3f	semaphorin 3F	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1318327	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21933904
1308514	Sema3f	semaphorin 3F	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308514	Sema3f	semaphorin 3F	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308515	Folr2	folate receptor beta	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318329	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308515	Folr2	folate receptor beta	gene	DOID:0080074	neural tube defect		ISO	RGD:1318329	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11749123
1308515	Folr2	folate receptor beta	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1318329	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:30794826
1308515	Folr2	folate receptor beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308515	Folr2	folate receptor beta	gene	DOID:1324	lung cancer		ISO	RGD:1318329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308515	Folr2	folate receptor beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308515	Folr2	folate receptor beta	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318329	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308515	Folr2	folate receptor beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308515	Folr2	folate receptor beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:0080600	COVID-19		ISO	RGD:1318331	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:0080688	mosaic variegated aneuploidy syndrome		ISO	RGD:1318331	D	RGD:11554173	20221101	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553959
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:0080689	mosaic variegated aneuploidy syndrome 3		ISO	RGD:1318331	D	RGD:7240710	20190315	OMIM			
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:0080689	mosaic variegated aneuploidy syndrome 3		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 | ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 3 | ClinVar Annotator: match by term: TRIP13-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28553959|PMID:32473092|PMID:9536098
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:1115	sarcoma		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:2154	nephroblastoma		ISO	RGD:1318331	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553959
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318331	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1318331	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553959
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:9006192	Oocyte/Zygote/Embryo Maturation Arrest 9		ISO	RGD:1318331	D	RGD:7240710	20200930	OMIM			
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:9006192	Oocyte/Zygote/Embryo Maturation Arrest 9		ISO	RGD:1318331	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 9	PMID:25741868|PMID:28492532|PMID:29758562|PMID:32473092|PMID:35812326|PMID:37340965
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:9008692	Aneuploidy		ISO	RGD:1318331	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553959
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308516	Trip13	thyroid hormone receptor interactor 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308517	Cep44	centrosomal protein 44	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308517	Cep44	centrosomal protein 44	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308517	Cep44	centrosomal protein 44	gene	DOID:0060058	lymphoma		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308517	Cep44	centrosomal protein 44	gene	DOID:10534	stomach cancer		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308517	Cep44	centrosomal protein 44	gene	DOID:3070	high grade glioma		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308517	Cep44	centrosomal protein 44	gene	DOID:5041	esophageal cancer		ISO	RGD:1318333	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308518	Ngly1	N-glycanase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308518	Ngly1	N-glycanase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24651605|PMID:25741868|PMID:28492532|PMID:31965062
1308518	Ngly1	N-glycanase 1	gene	DOID:0060260	ptosis		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:16199547|PMID:24651605|PMID:25741868|PMID:28492532|PMID:35243670
1308518	Ngly1	N-glycanase 1	gene	DOID:0060728	congenital disorder of deglycosylation 1		IMP		D	RGD:39457703|PMID:32259258	20201013	RGD			
1308518	Ngly1	N-glycanase 1	gene	DOID:0060728	congenital disorder of deglycosylation 1		ISO	RGD:1318334	D	RGD:7240710	20140911	OMIM			
1308518	Ngly1	N-glycanase 1	gene	DOID:0060728	congenital disorder of deglycosylation 1		ISO	RGD:1318334	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF DEGLYCOSYLATION 1 | ClinVar Annotator: match by term: Congenital disorder of deglycosylation 1 | ClinVar Annotator: match by term: NGLY1-CDDG | ClinVar Annotator: match by term: NGLY1-deficiency | ClinVar Annotator: match by term: NGLY1-related condition	PMID:16199547|PMID:18414213|PMID:24088041|PMID:24651605|PMID:25220016|PMID:25741868|PMID:25900930|PMID:26633545|PMID:26795593|PMID:27388694|PMID:28330790|PMID:28492532|PMID:28807864|PMID:29550355|PMID:30740912|PMID:31497478|PMID:31957011|PMID:31965062|PMID:32123317|PMID:33098801|PMID:34582790|PMID:34712575|PMID:34939090|PMID:35243670|PMID:35406718|PMID:36528660|PMID:38628705
1308518	Ngly1	N-glycanase 1	gene	DOID:0060991	congenital disorder of deglycosylation		ISO	RGD:1318334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital disorder of deglycosylation	PMID:16199547|PMID:17576681|PMID:18414213|PMID:22581936|PMID:24651605|PMID:25220016|PMID:25356970|PMID:25640679|PMID:25741868|PMID:25900930|PMID:26795593|PMID:27388694|PMID:28252636|PMID:28330790|PMID:28492532|PMID:28807864|PMID:29550355|PMID:29997391|PMID:30740912|PMID:31311714|PMID:31440721|PMID:31497478|PMID:31965062|PMID:32422350|PMID:32576142|PMID:33098801|PMID:33528536|PMID:34291020|PMID:34582790|PMID:34712575|PMID:34939090|PMID:35243670|PMID:35753512|PMID:35779835|PMID:36528660|PMID:36875753|PMID:38628705|PMID:9536098
1308518	Ngly1	N-glycanase 1	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:16199547|PMID:24651605|PMID:25741868|PMID:28492532|PMID:35243670
1308518	Ngly1	N-glycanase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308518	Ngly1	N-glycanase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318334	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:24651605|PMID:25220016|PMID:28492532|PMID:33098801|PMID:34582790|PMID:35243670
1308518	Ngly1	N-glycanase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:24651605|PMID:25220016|PMID:25741868|PMID:28492532|PMID:29550355|PMID:31965062|PMID:33098801|PMID:34582790|PMID:35243670
1308518	Ngly1	N-glycanase 1	gene	DOID:10907	microcephaly		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16199547|PMID:24651605|PMID:25741868|PMID:28492532|PMID:29550355|PMID:35243670
1308518	Ngly1	N-glycanase 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:29550355
1308518	Ngly1	N-glycanase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308518	Ngly1	N-glycanase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
1308518	Ngly1	N-glycanase 1	gene	DOID:12859	choreatic disease		ISO	RGD:1318334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:24651605|PMID:25220016|PMID:25741868|PMID:28492532|PMID:31965062|PMID:33098801|PMID:34582790|PMID:35243670|PMID:36528660
1308518	Ngly1	N-glycanase 1	gene	DOID:12959	lagophthalmos		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lagophthalmos	PMID:16199547|PMID:24651605|PMID:25741868|PMID:28492532|PMID:35243670
1308518	Ngly1	N-glycanase 1	gene	DOID:1324	lung cancer		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308518	Ngly1	N-glycanase 1	gene	DOID:1389	polyneuropathy		ISO	RGD:1318334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:24651605|PMID:25220016|PMID:25741868|PMID:28492532|PMID:31965062|PMID:33098801|PMID:34582790|PMID:35243670|PMID:36528660
1308518	Ngly1	N-glycanase 1	gene	DOID:1826	epilepsy		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:16199547|PMID:24651605|PMID:25741868|PMID:28492532|PMID:35243670
1308518	Ngly1	N-glycanase 1	gene	DOID:1909	melanoma		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308518	Ngly1	N-glycanase 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:16199547|PMID:24651605|PMID:25741868|PMID:28492532|PMID:35243670
1308518	Ngly1	N-glycanase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308518	Ngly1	N-glycanase 1	gene	DOID:3650	lactic acidosis		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:32581362
1308518	Ngly1	N-glycanase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308518	Ngly1	N-glycanase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308518	Ngly1	N-glycanase 1	gene	DOID:539	ophthalmoplegia		ISO	RGD:1318334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: External ophthalmoplegia	PMID:24651605|PMID:25220016|PMID:25741868|PMID:28492532|PMID:31965062|PMID:33098801|PMID:34582790|PMID:35243670|PMID:36528660
1308518	Ngly1	N-glycanase 1	gene	DOID:540	strabismus		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:29550355
1308518	Ngly1	N-glycanase 1	gene	DOID:543	dystonia		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:24651605|PMID:25741868|PMID:28492532|PMID:31965062
1308518	Ngly1	N-glycanase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308518	Ngly1	N-glycanase 1	gene	DOID:630	genetic disease		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24651605|PMID:25741868|PMID:25900930|PMID:26795593|PMID:28330790|PMID:28492532|PMID:30740912|PMID:31311714|PMID:31497478|PMID:31965062|PMID:35243670
1308518	Ngly1	N-glycanase 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1308518	Ngly1	N-glycanase 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532|PMID:29550355
1308518	Ngly1	N-glycanase 1	gene	DOID:870	neuropathy		ISO	RGD:1318334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:24651605|PMID:25220016|PMID:25741868|PMID:28492532|PMID:31965062|PMID:33098801|PMID:34582790|PMID:35243670
1308518	Ngly1	N-glycanase 1	gene	DOID:9000842	Proteostasis Deficiencies		IMP		D	RGD:39457703|PMID:32259258	20201013	RGD			
1308518	Ngly1	N-glycanase 1	gene	DOID:9001581	Constipation		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532|PMID:29550355
1308518	Ngly1	N-glycanase 1	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:16199547|PMID:24651605|PMID:25741868|PMID:28492532|PMID:35243670
1308518	Ngly1	N-glycanase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318334	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:29550355|PMID:31965062
1308518	Ngly1	N-glycanase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1318334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:24651605|PMID:25220016|PMID:25741868|PMID:28492532|PMID:31965062|PMID:33098801|PMID:34582790|PMID:35243670|PMID:36528660
1308518	Ngly1	N-glycanase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:24651605|PMID:25741868|PMID:28492532|PMID:29550355|PMID:35243670
1308518	Ngly1	N-glycanase 1	gene	DOID:9006650	Anisocoria		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anisocoria	PMID:16199547|PMID:24651605|PMID:25741868|PMID:28492532|PMID:35243670
1308518	Ngly1	N-glycanase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:24651605|PMID:25741868|PMID:28492532|PMID:35243670
1308518	Ngly1	N-glycanase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1308518	Ngly1	N-glycanase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:24651605|PMID:25220016|PMID:25741868|PMID:28492532|PMID:29550355|PMID:31965062|PMID:32581362|PMID:33098801|PMID:34582790|PMID:35243670|PMID:36528660
1308518	Ngly1	N-glycanase 1	gene	DOID:9008739	Athetosis		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Athetosis	PMID:24651605|PMID:25741868|PMID:28492532|PMID:31965062
1308518	Ngly1	N-glycanase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
1308518	Ngly1	N-glycanase 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:29550355
1308518	Ngly1	N-glycanase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308518	Ngly1	N-glycanase 1	gene	DOID:936	brain disease		ISO	RGD:1318334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:24651605|PMID:25356970|PMID:28492532
1308519	Pold4	DNA polymerase delta 4, accessory subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1318336	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Intellectual disability syndrome	
1308520	Pglyrp4	peptidoglycan recognition protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1318338	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308520	Pglyrp4	peptidoglycan recognition protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1318338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308520	Pglyrp4	peptidoglycan recognition protein 4	gene	DOID:1909	melanoma		ISO	RGD:1318338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308520	Pglyrp4	peptidoglycan recognition protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1318338	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308520	Pglyrp4	peptidoglycan recognition protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308520	Pglyrp4	peptidoglycan recognition protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308520	Pglyrp4	peptidoglycan recognition protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308521	Nkx2-3	NK2 homeobox 3	gene	DOID:8577	ulcerative colitis		ISO	RGD:1318340	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438405|PMID:18438406|PMID:20228799
1308521	Nkx2-3	NK2 homeobox 3	gene	DOID:8778	Crohn's disease		ISO	RGD:1318340	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:17554261|PMID:18438405|PMID:18438406
1308521	Nkx2-3	NK2 homeobox 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308523	Ccdc158	coiled-coil domain containing 158	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308523	Ccdc158	coiled-coil domain containing 158	gene	DOID:10534	stomach cancer		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308523	Ccdc158	coiled-coil domain containing 158	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308523	Ccdc158	coiled-coil domain containing 158	gene	DOID:3070	high grade glioma		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308523	Ccdc158	coiled-coil domain containing 158	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308523	Ccdc158	coiled-coil domain containing 158	gene	DOID:4362	cervical cancer		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308523	Ccdc158	coiled-coil domain containing 158	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602411	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308523	Ccdc158	coiled-coil domain containing 158	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308523	Ccdc158	coiled-coil domain containing 158	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308523	Ccdc158	coiled-coil domain containing 158	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:1115	sarcoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:1324	lung cancer		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:1909	melanoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:3070	high grade glioma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:3275	thymoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318344	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318344	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308524	Ect2	epithelial cell transforming 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318344	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308524	Ect2	epithelial cell transforming 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308524	Ect2	epithelial cell transforming 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308525	Echdc2	enoyl CoA hydratase domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308525	Echdc2	enoyl CoA hydratase domain containing 2	gene	DOID:0060058	lymphoma		ISO	RGD:1349844	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308525	Echdc2	enoyl CoA hydratase domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308525	Echdc2	enoyl CoA hydratase domain containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308525	Echdc2	enoyl CoA hydratase domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308525	Echdc2	enoyl CoA hydratase domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308525	Echdc2	enoyl CoA hydratase domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308525	Echdc2	enoyl CoA hydratase domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349844	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308525	Echdc2	enoyl CoA hydratase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308525	Echdc2	enoyl CoA hydratase domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308525	Echdc2	enoyl CoA hydratase domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308526	Cd5l	Cd5 molecule-like	gene	DOID:10534	stomach cancer		ISO	RGD:1318347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308526	Cd5l	Cd5 molecule-like	gene	DOID:1324	lung cancer		ISO	RGD:1318347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308526	Cd5l	Cd5 molecule-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318347	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308526	Cd5l	Cd5 molecule-like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318347	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:0060058	lymphoma		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:0112383	KINSSHIP syndrome		ISO	RGD:1318349	D	RGD:7240710	20210623	OMIM			
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:0112383	KINSSHIP syndrome		ISO	RGD:1318349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AFF3-related condition | ClinVar Annotator: match by term: KINSSHIP SYNDROME | ClinVar Annotator: match by term: KINSSHIP syndrome	PMID:25741868|PMID:28492532|PMID:29758562|PMID:31388108|PMID:33961779|PMID:38811945
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:0112383	KINSSHIP syndrome		ISS	RGD:1551023	D	RGD:13592920	20230718	MouseDO		OMIM:619297	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:1059	intellectual disability		ISO	RGD:1318349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:31388108|PMID:33961779
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:10907	microcephaly		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:11383	cryptorchidism		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:11836	clubfoot		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:1826	epilepsy		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:31388108|PMID:33961779
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:1909	melanoma		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:303	substance-related disorder		ISO	RGD:1318349	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:630	genetic disease		ISO	RGD:1318349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:31388108|PMID:33961779
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:674	cleft palate		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1318349	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842|PMID:23143596
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:31388108|PMID:33961779
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1318349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:31388108|PMID:33961779
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318349	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31388108|PMID:33961779
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:9220	central sleep apnea		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central apnea	PMID:25741868
1308527	Aff3	ALF transcription elongation factor 3	gene	DOID:9296	cleft lip		ISO	RGD:1318349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:0060249	scoliosis		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:0060260	ptosis		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:0060745	Doyne honeycomb retinal dystrophy		ISO	RGD:1318351	D	RGD:10401794|PMID:12242346	20151007	RGD		protein:altered expression: :	
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:0060745	Doyne honeycomb retinal dystrophy		ISO	RGD:1318351	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:0060745	Doyne honeycomb retinal dystrophy		ISO	RGD:1318351	D	RGD:1598888|PMID:10369267	20061220	RGD		DNA:missense mutation:cds:p.R345W (human)	
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:0060745	Doyne honeycomb retinal dystrophy		ISO	RGD:1318351	D	RGD:7240710	20130221	OMIM			
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:0060745	Doyne honeycomb retinal dystrophy		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy	PMID:25741868|PMID:28492532
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:0060745	Doyne honeycomb retinal dystrophy		ISO	RGD:1318352	D	RGD:10401791|PMID:17664227	20151007	RGD			
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:0060745	Doyne honeycomb retinal dystrophy		ISS	RGD:1318352	D	RGD:13592920	20230718	MouseDO		OMIM:126600	
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:0080073	spina bifida occulta		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:1068	juvenile glaucoma		ISO	RGD:1318351	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Glaucoma of childhood	PMID:28492532|PMID:32476818|PMID:34923728
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:10808	gastric ulcer		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric ulcer	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:11353	bladder diverticulum		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diverticulum of bladder	PMID:25741868|PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:11830	myopia		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:11914	gastroparesis		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroparesis	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:12642	hiatus hernia		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:1283	enterocele		ISO	RGD:1318352	D	RGD:10401789|PMID:17872905	20151007	RGD			
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:13250	diarrhea		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:1432	blindness		ISO	RGD:1318351	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:1596	depressive disorder		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1318351	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:27032653
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1318351	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208748
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:255	hemangioma		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1318351	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17671114
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:305	carcinoma		ISO	RGD:1318351	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318351	D	RGD:10401656|PMID:19887559	20151006	RGD		protein:increased expression:brain:	
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:4448	macular degeneration		ISO	RGD:1318351	D	RGD:10401794|PMID:12242346	20151007	RGD		protein:altered expression: :	
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:4448	macular degeneration		ISO	RGD:1318352	D	RGD:10401788|PMID:17666404	20151007	RGD			
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:1318352	D	RGD:10401789|PMID:17872905	20151007	RGD			
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:5679	retinal disease		ISO	RGD:1318351	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10369267|PMID:11384588|PMID:12242346|PMID:15785976|PMID:17666404|PMID:18791549|PMID:22031286|PMID:22159686|PMID:25077532|PMID:25111685|PMID:25741868|PMID:26427406|PMID:27777122|PMID:28492532|PMID:30541486|PMID:33019987|PMID:33542268|PMID:33546218|PMID:33689237|PMID:36460718
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:5723	optic atrophy		ISO	RGD:1318351	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:630	genetic disease		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:65	connective tissue disease		ISO	RGD:1318351	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:22031286|PMID:25741868|PMID:31792352|PMID:33807164|PMID:34923728
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:657	adenoma		ISO	RGD:1318351	D	RGD:10401654|PMID:24080855	20151006	RGD		protein:decreased expression: :	
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1318351	D	RGD:10401793|PMID:23936443	20151007	RGD		protein:decreased expression:liver:	
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:8437	intestinal obstruction		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intestinal obstruction	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:8445	intestinal volvulus		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Volvulus	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:26162006|PMID:28492532|PMID:33542268|PMID:34923728
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9000053	Headache		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1318351	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9000766	Incisional Hernia		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Incisional hernia	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9002189	High Myopia		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:1318351	D	RGD:10401792|PMID:22275171	20151007	RGD		protein:increased expression:serum:	
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9002644	Premature Aging		ISO	RGD:1318352	D	RGD:10401789|PMID:17872905	20151007	RGD			
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9003598	Glaucoma 1, Open Angle, H		ISO	RGD:1318351	D	RGD:11554173	20240402	CTD		CTD Direct Evidence: marker/mechanism	
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9003598	Glaucoma 1, Open Angle, H		ISO	RGD:1318351	D	RGD:7240710	20240313	OMIM			
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9003598	Glaucoma 1, Open Angle, H		ISO	RGD:1318351	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: GLAUCOMA 1, OPEN ANGLE, H | ClinVar Annotator: match by term: GLC1H | ClinVar Annotator: match by term: Glaucoma 1, open angle, H	PMID:28492532|PMID:32476818|PMID:34923728
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9003760	Myalgia		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9004455	Femoral Hernia		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Femoral hernia	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9005096	Cystocele		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cystocele	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1318351	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17671114
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1318351	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:31792352
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9005916	Radial Drusen, Autosomal Dominant		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DRUSEN, RADIAL, AUTOSOMAL DOMINANT	PMID:25741868|PMID:28492532
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9006065	Arthralgia		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9007529	Marfan Syndrome, Autosomal Recessive		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recessive Marfanoid Syndrome with Severe Herniation	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9008148	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D		ISO	RGD:1318351	D	RGD:7240710	20240515	OMIM			
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9008148	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1d	PMID:25741868|PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9008385	Vomiting		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318351	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:28492532|PMID:32006683
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1318351	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19115204
1308528	Efemp1	EGF-like fibulin extracellular matrix protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308530	Scand1	SCAN domain-containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308531	Crkl	CRK like proto-oncogene, adaptor protein	gene	DOID:10286	prostate carcinoma		ISO	RGD:1318357	D	RGD:7488899|PMID:16391854	20131204	RGD		protein:decreased tyrosine phosphorylation:prostate gland	
1308531	Crkl	CRK like proto-oncogene, adaptor protein	gene	DOID:1115	sarcoma		ISO	RGD:1318357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1308531	Crkl	CRK like proto-oncogene, adaptor protein	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1318357	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16399080
1308531	Crkl	CRK like proto-oncogene, adaptor protein	gene	DOID:11198	DiGeorge syndrome		ISS	RGD:1318358	D	RGD:13592920	20230718	MouseDO		OMIM:188400	
1308531	Crkl	CRK like proto-oncogene, adaptor protein	gene	DOID:12583	velocardiofacial syndrome		ISS	RGD:1318358	D	RGD:13592920	20180518	MouseDO		OMIM:192430	
1308531	Crkl	CRK like proto-oncogene, adaptor protein	gene	DOID:1520	colon carcinoma		ISO	RGD:1318357	D	RGD:7488899|PMID:16391854	20131204	RGD			
1308531	Crkl	CRK like proto-oncogene, adaptor protein	gene	DOID:1909	melanoma		ISO	RGD:1318357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1308531	Crkl	CRK like proto-oncogene, adaptor protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1318357	D	RGD:7488899|PMID:16391854	20131204	RGD			
1308531	Crkl	CRK like proto-oncogene, adaptor protein	gene	DOID:3008	invasive ductal carcinoma	disease_progression	ISO	RGD:1318357	D	RGD:7488897|PMID:23686806	20131204	RGD		protein:increased expression:breast	
1308531	Crkl	CRK like proto-oncogene, adaptor protein	gene	DOID:3905	lung carcinoma		ISO	RGD:1318357	D	RGD:7488899|PMID:16391854	20131204	RGD			
1308531	Crkl	CRK like proto-oncogene, adaptor protein	gene	DOID:4159	skin cancer		ISO	RGD:1318357	D	RGD:7488899|PMID:16391854	20131204	RGD			
1308531	Crkl	CRK like proto-oncogene, adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308531	Crkl	CRK like proto-oncogene, adaptor protein	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1318357	D	RGD:13674160|PMID:17900686	20180710	RGD		protein:increased phosphorylation:blood	
1308531	Crkl	CRK like proto-oncogene, adaptor protein	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1318357	D	RGD:7488899|PMID:16391854	20131204	RGD			
1308532	Meis3	Meis homeobox 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308532	Meis3	Meis homeobox 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308532	Meis3	Meis homeobox 3	gene	DOID:1324	lung cancer		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308532	Meis3	Meis homeobox 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308532	Meis3	Meis homeobox 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308532	Meis3	Meis homeobox 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308532	Meis3	Meis homeobox 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308532	Meis3	Meis homeobox 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606527	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:28492532
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:0060260	ptosis		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:0060368	Parkinson's disease 2		ISO	RGD:1606527	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation	PMID:25741868|PMID:28492532
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:0070048	GAND syndrome		ISO	RGD:1606527	D	RGD:7240710	20150610	OMIM			
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:0070048	GAND syndrome		ISO	RGD:1606527	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GAND SYNDROME | ClinVar Annotator: match by term: GATAD2B-Related Disorder | ClinVar Annotator: match by term: GATAD2B-related condition | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 18	PMID:11756549|PMID:25741868|PMID:28135719|PMID:28492532|PMID:31949314|PMID:32688057
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:0070048	GAND syndrome		ISS	RGD:1550116	D	RGD:13592920	20240222	MouseDO		OMIM:615074	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:0080087	nonsyndromic congenital nail disorder 9		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nail dysplasia	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:1059	intellectual disability		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:23033978|PMID:25356899|PMID:25741868|PMID:27159321|PMID:28077840|PMID:28492532|PMID:32688057
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:10908	hydrocephalus		ISO	RGD:1606527	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:1115	sarcoma		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:1143	exotropia		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:11830	myopia		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:12849	autistic disorder		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:11756549|PMID:25741868|PMID:28492532|PMID:31949314
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:1324	lung cancer		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:1826	epilepsy		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:28492532
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:11756549|PMID:25741868|PMID:31949314
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:1891	optic nerve disease		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:1909	melanoma		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:3070	high grade glioma		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:540	strabismus		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:630	genetic disease		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23033978|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28077840|PMID:28135719|PMID:28191890|PMID:28490743|PMID:28492532|PMID:31949314|PMID:32688057|PMID:33911214
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:8488	polyhydramnios		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9003132	Sialorrhea		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9003133	Hypertelorism		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9006650	Anisocoria		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anisocoria	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9007573	Flatfoot		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9007661	Dwarfism		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23033978|PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:93	language disorder		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	
1308533	Gatad2b	GATA zinc finger domain containing 2B	gene	DOID:9834	hyperopia		ISO	RGD:1606527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1308534	Rtbdn	retbindin	gene	DOID:10534	stomach cancer		ISO	RGD:1606213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308534	Rtbdn	retbindin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308534	Rtbdn	retbindin	gene	DOID:9005834	Ependymomas		ISO	RGD:1606213	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075792
1308535	Pygo2	pygopus family PHD finger 2	gene	DOID:1324	lung cancer		ISO	RGD:1343524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308535	Pygo2	pygopus family PHD finger 2	gene	DOID:3070	high grade glioma		ISO	RGD:1343524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308535	Pygo2	pygopus family PHD finger 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343524	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308535	Pygo2	pygopus family PHD finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308536	Coch	cochlin	gene	DOID:0110593	autosomal dominant nonsyndromic deafness 9		ISO	RGD:1318365	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308536	Coch	cochlin	gene	DOID:0110593	autosomal dominant nonsyndromic deafness 9		ISO	RGD:1318365	D	RGD:7240710	20130425	OMIM			
1308536	Coch	cochlin	gene	DOID:0110593	autosomal dominant nonsyndromic deafness 9		ISO	RGD:1318365	D	RGD:8554872	20250723	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 9 | ClinVar Annotator: match by term: COCH-related condition	PMID:16078052|PMID:25741868|PMID:32562050
1308536	Coch	cochlin	gene	DOID:0110593	autosomal dominant nonsyndromic deafness 9		ISS	RGD:1318366	D	RGD:13592920	20230718	MouseDO		OMIM:601369	
1308536	Coch	cochlin	gene	DOID:0111644	autosomal recessive nonsyndromic deafness 110		ISO	RGD:1318365	D	RGD:7240710	20200129	OMIM			
1308536	Coch	cochlin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308536	Coch	cochlin	gene	DOID:630	genetic disease		ISO	RGD:1318365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308536	Coch	cochlin	gene	DOID:9008681	Deafness	susceptibility	ISO	RGD:1318365	D	RGD:1600878|PMID:9806553	20070329	RGD		deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations	
1308538	Rab11fip2	RAB11 family interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308538	Rab11fip2	RAB11 family interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308538	Rab11fip2	RAB11 family interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1344867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308538	Rab11fip2	RAB11 family interacting protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308538	Rab11fip2	RAB11 family interacting protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308539	Kif5c	kinesin family member 5C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308539	Kif5c	kinesin family member 5C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1308539	Kif5c	kinesin family member 5C	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1318371	D	RGD:12798528|PMID:23006449	20170324	RGD		mRNA:increased expression:frontal cortex, cerebellum (mouse)	
1308539	Kif5c	kinesin family member 5C	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1318370	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23603762
1308539	Kif5c	kinesin family member 5C	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1318370	D	RGD:8554872	20250114	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:25741868|PMID:27391121
1308539	Kif5c	kinesin family member 5C	gene	DOID:0090133	complex cortical dysplasia with other brain malformations 2		ISO	RGD:1318370	D	RGD:7240710	20140911	OMIM			
1308539	Kif5c	kinesin family member 5C	gene	DOID:0090133	complex cortical dysplasia with other brain malformations 2		ISO	RGD:1318370	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 | ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 2 | ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 2 | ClinVar Annotator: match by term: KIF5C-related condition	PMID:23033978|PMID:23603762|PMID:24088041|PMID:24812067|PMID:25140959|PMID:25741868|PMID:26633545|PMID:29048727|PMID:32562872|PMID:34490615|PMID:35231114|PMID:39503049
1308539	Kif5c	kinesin family member 5C	gene	DOID:0110042	Alzheimer's disease 3		ISO	RGD:1318370	D	RGD:12859086|PMID:24569455	20170412	RGD		protein:decreased expression:cerebellum (human)	
1308539	Kif5c	kinesin family member 5C	gene	DOID:1059	intellectual disability		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1308539	Kif5c	kinesin family member 5C	gene	DOID:10907	microcephaly		ISO	RGD:1318370	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23603762
1308539	Kif5c	kinesin family member 5C	gene	DOID:1115	sarcoma		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1308539	Kif5c	kinesin family member 5C	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1318370	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:25741868
1308539	Kif5c	kinesin family member 5C	gene	DOID:127	leiomyoma		ISO	RGD:1318370	D	RGD:12859089|PMID:20396563	20170412	RGD		mRNA:increased expression:myometrium (human)	
1308539	Kif5c	kinesin family member 5C	gene	DOID:3275	thymoma		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308539	Kif5c	kinesin family member 5C	gene	DOID:5419	schizophrenia		ISO	RGD:1318370	D	RGD:12859088|PMID:24581549	20170412	RGD		DNA:snp:enhancer:T>C (rs10929935) (human)	
1308539	Kif5c	kinesin family member 5C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308539	Kif5c	kinesin family member 5C	gene	DOID:560	jaw-winking syndrome		ISO	RGD:1318370	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Jaw-winking syndrome	PMID:25741868
1308539	Kif5c	kinesin family member 5C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308539	Kif5c	kinesin family member 5C	gene	DOID:630	genetic disease		ISO	RGD:1318370	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308539	Kif5c	kinesin family member 5C	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308539	Kif5c	kinesin family member 5C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308539	Kif5c	kinesin family member 5C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:0080600	COVID-19		ISO	RGD:1602448	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:1115	sarcoma		ISO	RGD:1602448	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:1324	lung cancer		ISO	RGD:1602448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:1909	melanoma		ISO	RGD:1602448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:3275	thymoma		ISO	RGD:1602448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1602448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1602448	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602448	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308541	Ticrr	TOPBP1-interacting checkpoint and replication regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:126736038	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:28492532
1308542	Sirt1	sirtuin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308542	Sirt1	sirtuin 1	gene	DOID:0051064	left ventricular failure		ISO	RGD:1318374	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:37030624
1308542	Sirt1	sirtuin 1	gene	DOID:0060180	colitis		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19940103|PMID:24548422|PMID:24782617
1308542	Sirt1	sirtuin 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1318374	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1308542	Sirt1	sirtuin 1	gene	DOID:0060903	thrombosis		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:25339356
1308542	Sirt1	sirtuin 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:26026874
1308542	Sirt1	sirtuin 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:1318374	D	RGD:9585746|PMID:22902550	20140923	RGD		protein:decreased expression:liver	
1308542	Sirt1	sirtuin 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:1318374	D	RGD:9586021|PMID:20033348	20140924	RGD		associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue	
1308542	Sirt1	sirtuin 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	IEP		D	RGD:9585663|PMID:17498258	20140918	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:0110721	neuronal ceroid lipofuscinosis 1		ISO	RGD:1318374	D	RGD:11554173	20171128	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224254
1308542	Sirt1	sirtuin 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1318374	D	RGD:9585760|PMID:23038275	20140923	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308542	Sirt1	sirtuin 1	gene	DOID:10603	glucose intolerance		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:21321189
1308542	Sirt1	sirtuin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1318375	D	RGD:2290573|PMID:17581637	20150709	RGD		protein:increased expression:forebrain (mouse)	
1308542	Sirt1	sirtuin 1	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:1318375	D	RGD:10047116|PMID:16751189	20150709	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:1115	sarcoma		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308542	Sirt1	sirtuin 1	gene	DOID:114	heart disease		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23217256
1308542	Sirt1	sirtuin 1	gene	DOID:11476	osteoporosis	treatment	IDA		D	RGD:10047129|PMID:22555620	20150710	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:11476	osteoporosis	treatment	IMP		D	RGD:10053568|PMID:25377437	20150714	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:12387	nephrogenic diabetes insipidus		ISS	RGD:1318375	D	RGD:13592920	20180518	MouseDO		OMIM:125800 | OMIM:304800	
1308542	Sirt1	sirtuin 1	gene	DOID:12858	Huntington's disease		ISO	RGD:1318374	D	RGD:10395240|PMID:9949199	20150826	RGD		human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)	
1308542	Sirt1	sirtuin 1	gene	DOID:12858	Huntington's disease		ISO	RGD:1318374	D	RGD:9586004|PMID:18538940	20140924	RGD		protein:decreased expression:frontal cortex	
1308542	Sirt1	sirtuin 1	gene	DOID:12858	Huntington's disease		ISO	RGD:1318375	D	RGD:9585998|PMID:22179316	20140924	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:17581637|PMID:17652729
1308542	Sirt1	sirtuin 1	gene	DOID:1826	epilepsy		IEP		D	RGD:9585747|PMID:23644113	20140923	RGD		protein:increased expression:brain	
1308542	Sirt1	sirtuin 1	gene	DOID:1875	impotence	treatment	IEP		D	RGD:9495931|PMID:24467772	20140917	RGD		associated with Diabetes Mellitus, Type 2	
1308542	Sirt1	sirtuin 1	gene	DOID:1909	melanoma		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308542	Sirt1	sirtuin 1	gene	DOID:1936	atherosclerosis		IEP		D	RGD:9585743|PMID:21810449	20140923	RGD		associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:abdominal aorta	
1308542	Sirt1	sirtuin 1	gene	DOID:1936	atherosclerosis		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20068143
1308542	Sirt1	sirtuin 1	gene	DOID:28	endocrine system disease		ISO	RGD:1318374	D	RGD:11554173	20241203	CTD		CTD Direct Evidence: marker/mechanism	PMID:38043716
1308542	Sirt1	sirtuin 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21416250
1308542	Sirt1	sirtuin 1	gene	DOID:3021	acute kidney failure	severity	IEP		D	RGD:10047111|PMID:21416250	20150709	RGD		protein:increased expression:kidney (rat)	
1308542	Sirt1	sirtuin 1	gene	DOID:3213	demyelinating disease		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:23547115
1308542	Sirt1	sirtuin 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1318375	D	RGD:2290573|PMID:17581637	20150709	RGD		protein:increased expression:spinal cord (mouse)	
1308542	Sirt1	sirtuin 1	gene	DOID:3347	osteosarcoma		ISO	RGD:1318374	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793039
1308542	Sirt1	sirtuin 1	gene	DOID:3454	brain infarction		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22878646
1308542	Sirt1	sirtuin 1	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1318375	D	RGD:9585664|PMID:23600725	20140918	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:3525	middle cerebral artery infarction	treatment	IMP		D	RGD:9585664|PMID:23600725	20140918	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1318374	D	RGD:736668118|PMID:23702379	20260617	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:417	autoimmune disease		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23993977
1308542	Sirt1	sirtuin 1	gene	DOID:418	systemic scleroderma		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:25707573
1308542	Sirt1	sirtuin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308542	Sirt1	sirtuin 1	gene	DOID:4448	macular degeneration		ISO	RGD:1318374	D	RGD:9585773|PMID:21890195	20140923	RGD		mRNA:decreased expression:retina	
1308542	Sirt1	sirtuin 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19720090
1308542	Sirt1	sirtuin 1	gene	DOID:552	pneumonia		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:24633890
1308542	Sirt1	sirtuin 1	gene	DOID:5679	retinal disease		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23217256
1308542	Sirt1	sirtuin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308542	Sirt1	sirtuin 1	gene	DOID:5844	myocardial infarction		IEP		D	RGD:2316169|PMID:20089851	20140918	RGD		protein:altered localization:nucleus	
1308542	Sirt1	sirtuin 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:24535859
1308542	Sirt1	sirtuin 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24894401
1308542	Sirt1	sirtuin 1	gene	DOID:9000040	Hypertrophy		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:23297412
1308542	Sirt1	sirtuin 1	gene	DOID:9000310	Lung Injury		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:24633890
1308542	Sirt1	sirtuin 1	gene	DOID:9000784	Fibrosis		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20651248
1308542	Sirt1	sirtuin 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1318374	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793039
1308542	Sirt1	sirtuin 1	gene	DOID:9000998	Brain Injuries	treatment	IEP		D	RGD:9497541|PMID:17970622	20140917	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:26435214
1308542	Sirt1	sirtuin 1	gene	DOID:9001708	Hemorrhagic Shock		IEP		D	RGD:9585770|PMID:21554952	20140923	RGD		protein:decreased expression:heart left ventricle	
1308542	Sirt1	sirtuin 1	gene	DOID:9001708	Hemorrhagic Shock	treatment	IMP		D	RGD:7240568|PMID:22113495	20140917	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:9001981	Weight Loss		ISO	RGD:1318374	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: therapeutic	PMID:39719253
1308542	Sirt1	sirtuin 1	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24894820
1308542	Sirt1	sirtuin 1	gene	DOID:9002159	Liver Reperfusion Injury	treatment	IEP		D	RGD:9497542|PMID:24557422	20140917	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21062352
1308542	Sirt1	sirtuin 1	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	IEP		D	RGD:9586020|PMID:17322642	20140924	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24252177
1308542	Sirt1	sirtuin 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:23547115
1308542	Sirt1	sirtuin 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:17581637
1308542	Sirt1	sirtuin 1	gene	DOID:9002981	Genomic Instability		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23217256
1308542	Sirt1	sirtuin 1	gene	DOID:9003936	Cardiomegaly	treatment	IEP		D	RGD:13514043|PMID:25281201	20180321	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:9004616	Left Ventricular Hypertrophy		IEP		D	RGD:2293330|PMID:18192848	20140923	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:myocardium	
1308542	Sirt1	sirtuin 1	gene	DOID:9004616	Left Ventricular Hypertrophy		IEP		D	RGD:9495934|PMID:19142216	20140917	RGD		associated with Hypertension;mRNA, protein:increased expression:heart	
1308542	Sirt1	sirtuin 1	gene	DOID:9005246	Paralysis		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:23547115
1308542	Sirt1	sirtuin 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23090186|PMID:23792339
1308542	Sirt1	sirtuin 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	IEP		D	RGD:9586012|PMID:22179968	20140924	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	IEP		D	RGD:9495930|PMID:22324445	20140917	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:9006302	Binge Drinking		IEP		D	RGD:598092506|PMID:30737481	20250321	RGD		protein:decreased expression:hypothalamic microglia	
1308542	Sirt1	sirtuin 1	gene	DOID:9006302	Binge Drinking		IEP		D	RGD:9495933|PMID:24416161	20140917	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:9006646	Metabolic Syndrome		IEP		D	RGD:10053569|PMID:25356430	20150714	RGD		protein:decreased expression:hippocampus (rat)	
1308542	Sirt1	sirtuin 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20068143
1308542	Sirt1	sirtuin 1	gene	DOID:9006646	Metabolic Syndrome	treatment	IDA		D	RGD:9585758|PMID:21514307	20140923	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:9006778	Carotid Atherosclerosis		ISO	RGD:1318374	D	RGD:9495924|PMID:23224247	20140917	RGD		mRNA, protein:decreased expression:carotid artery segment	
1308542	Sirt1	sirtuin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308542	Sirt1	sirtuin 1	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22523472
1308542	Sirt1	sirtuin 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:20068143|PMID:21321189|PMID:24442997|PMID:25849131|PMID:26026874
1308542	Sirt1	sirtuin 1	gene	DOID:9007692	Insulin Resistance	treatment	IDA		D	RGD:9585759|PMID:19996381	20140923	RGD		associated with Obesity	
1308542	Sirt1	sirtuin 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:21060073
1308542	Sirt1	sirtuin 1	gene	DOID:9008691	Liver Injury	treatment	IEP		D	RGD:9586016|PMID:25004063	20140924	RGD		associated with Sepsis	
1308542	Sirt1	sirtuin 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19839049
1308542	Sirt1	sirtuin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308542	Sirt1	sirtuin 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24894401
1308542	Sirt1	sirtuin 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23834033
1308542	Sirt1	sirtuin 1	gene	DOID:9352	type 2 diabetes mellitus	treatment	IMP		D	RGD:9585997|PMID:19549853	20140924	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:1318375	D	RGD:9585769|PMID:18046409	20140923	RGD		associated with Obesity	
1308542	Sirt1	sirtuin 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:21321189|PMID:23834033|PMID:24184811|PMID:24210820|PMID:24442997
1308542	Sirt1	sirtuin 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1318375	D	RGD:9585751|PMID:21540183	20140923	RGD		associated with Obesity	
1308542	Sirt1	sirtuin 1	gene	DOID:9452	steatotic liver disease		ISS	RGD:1318375	D	RGD:13592920	20230718	MouseDO		OMIM:228100	
1308542	Sirt1	sirtuin 1	gene	DOID:9669	senile cataract		ISO	RGD:1318374	D	RGD:10045354|PMID:21501079	20150609	RGD			
1308542	Sirt1	sirtuin 1	gene	DOID:9970	obesity		IEP		D	RGD:9586064|PMID:24135502	20140926	RGD		protein:decreased expression:ovary	
1308542	Sirt1	sirtuin 1	gene	DOID:9970	obesity		ISO	RGD:1318374	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:24184811
1308542	Sirt1	sirtuin 1	gene	DOID:9975	cocaine dependence		IEP		D	RGD:401900166|PMID:27664298	20231130	RGD		protein:increased expression:brain, nucleus accumbens (rat)	
1308543	Pura	purine rich element binding protein A	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
1308543	Pura	purine rich element binding protein A	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25439098|PMID:25741868|PMID:28492532|PMID:33726816|PMID:35118825
1308543	Pura	purine rich element binding protein A	gene	DOID:0060249	scoliosis		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
1308543	Pura	purine rich element binding protein A	gene	DOID:0070061	autosomal dominant intellectual developmental disorder 31		ISO	RGD:1318376	D	RGD:7240710	20150722	OMIM			
1308543	Pura	purine rich element binding protein A	gene	DOID:0070061	autosomal dominant intellectual developmental disorder 31		ISO	RGD:1318376	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 31 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES | ClinVar Annotator: match by term: PURA Syndrome | ClinVar Annotator: match by term: PURA-related disorder | ClinVar Annotator: match by term: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	PMID:25439098|PMID:25741868|PMID:26467025|PMID:27148565|PMID:28448108|PMID:28492532|PMID:28973083|PMID:29097605|PMID:29150892|PMID:30919572|PMID:32337850|PMID:33229923|PMID:33726816|PMID:34008892|PMID:34790866|PMID:35118825
1308543	Pura	purine rich element binding protein A	gene	DOID:0070309	absence epilepsy		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Absence seizures | ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:0080833	laryngomalacia		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:0111193	facioscapulohumeral muscular dystrophy 2		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weakness of facial musculature	PMID:25741868|PMID:28492532
1308543	Pura	purine rich element binding protein A	gene	DOID:1059	intellectual disability		ISO	RGD:1318376	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:24033266|PMID:25439098|PMID:25741868|PMID:25741905|PMID:28448108|PMID:28492532|PMID:32581362|PMID:32860008|PMID:34008892
1308543	Pura	purine rich element binding protein A	gene	DOID:1059	intellectual disability		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25439098|PMID:25741868|PMID:27148565|PMID:28448108|PMID:28492532|PMID:28973083|PMID:29097605
1308543	Pura	purine rich element binding protein A	gene	DOID:1059	intellectual disability		ISO	RGD:1318376	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25439098|PMID:25741868|PMID:27148565|PMID:28448108|PMID:28492532|PMID:28973083|PMID:29097605|PMID:29150892|PMID:34008892
1308543	Pura	purine rich element binding protein A	gene	DOID:10907	microcephaly		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:11162	respiratory failure		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:11830	myopia		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:27148565|PMID:28492532
1308543	Pura	purine rich element binding protein A	gene	DOID:11836	clubfoot		ISO	RGD:1318376	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Talipes equinovarus	PMID:28492532|PMID:29150892
1308543	Pura	purine rich element binding protein A	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1318376	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:28492532|PMID:29150892
1308543	Pura	purine rich element binding protein A	gene	DOID:12849	autistic disorder		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1308543	Pura	purine rich element binding protein A	gene	DOID:14264	benign neonatal seizures		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:25741868|PMID:27148565|PMID:28492532
1308543	Pura	purine rich element binding protein A	gene	DOID:1459	hypothyroidism		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:27148565|PMID:28492532
1308543	Pura	purine rich element binding protein A	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Methylmalonic acidemia	
1308543	Pura	purine rich element binding protein A	gene	DOID:1826	epilepsy		ISO	RGD:1318376	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
1308543	Pura	purine rich element binding protein A	gene	DOID:1826	epilepsy		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25439098|PMID:25741868|PMID:27148565|PMID:28448108|PMID:28492532|PMID:28973083|PMID:29097605|PMID:32860008|PMID:34008892
1308543	Pura	purine rich element binding protein A	gene	DOID:1826	epilepsy		ISO	RGD:1318376	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25439098|PMID:25741868|PMID:27148565|PMID:28492532|PMID:28973083|PMID:29097605|PMID:29150892|PMID:34008892
1308543	Pura	purine rich element binding protein A	gene	DOID:1827	generalized epilepsy		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:27148565|PMID:28492532
1308543	Pura	purine rich element binding protein A	gene	DOID:2234	focal epilepsy		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	
1308543	Pura	purine rich element binding protein A	gene	DOID:2748	glycogen storage disease III		ISO	RGD:1318376	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Forbes disease	PMID:12955720|PMID:20301788|PMID:27148565
1308543	Pura	purine rich element binding protein A	gene	DOID:480	movement disease		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1308543	Pura	purine rich element binding protein A	gene	DOID:543	dystonia		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	
1308543	Pura	purine rich element binding protein A	gene	DOID:630	genetic disease		ISO	RGD:1318376	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12818205|PMID:19846792|PMID:22614836|PMID:25439098|PMID:25741868|PMID:26467025|PMID:26744780|PMID:27148565|PMID:28448108|PMID:28492532|PMID:29097605|PMID:29150892|PMID:29307761|PMID:35211951|PMID:9461080
1308543	Pura	purine rich element binding protein A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532
1308543	Pura	purine rich element binding protein A	gene	DOID:8619	recurrent hypersomnia		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypersomnia	PMID:25741868|PMID:28492532
1308543	Pura	purine rich element binding protein A	gene	DOID:9000781	Cyanosis		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cyanosis	PMID:25439098|PMID:25741868|PMID:28492532|PMID:33726816|PMID:35118825
1308543	Pura	purine rich element binding protein A	gene	DOID:9001031	Retrognathia		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9001521	Subdural Hematoma		ISO	RGD:1318376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Subdural hemorrhage	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9001581	Constipation		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:27148565|PMID:28492532
1308543	Pura	purine rich element binding protein A	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1318376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9002395	Hypothermia		ISO	RGD:1318376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypothermia	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
1308543	Pura	purine rich element binding protein A	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9003132	Sialorrhea		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868|PMID:28492532
1308543	Pura	purine rich element binding protein A	gene	DOID:9003280	bradypnea		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradypnea	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9003703	Coxa Valga		ISO	RGD:1318376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318376	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
1308543	Pura	purine rich element binding protein A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318376	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9004866	Ataxia		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9004992	Apnea		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:25439098|PMID:25741868|PMID:28492532|PMID:33726816|PMID:35118825
1308543	Pura	purine rich element binding protein A	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318376	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25439098|PMID:25741868|PMID:27148565|PMID:28448108|PMID:28492532|PMID:28973083|PMID:29097605|PMID:29150892|PMID:33726816|PMID:34008892|PMID:35118825
1308543	Pura	purine rich element binding protein A	gene	DOID:9005695	Malnutrition		ISO	RGD:1318376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malnutrition	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25439098|PMID:25741868|PMID:28973083
1308543	Pura	purine rich element binding protein A	gene	DOID:9006617	Fatigue		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868|PMID:28492532
1308543	Pura	purine rich element binding protein A	gene	DOID:9007573	Flatfoot		ISO	RGD:1318376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9007722	Myoclonus		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318376	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25439098|PMID:25741868|PMID:27148565|PMID:28448108|PMID:28492532|PMID:28973083|PMID:29097605|PMID:29150892|PMID:33726816|PMID:34008892|PMID:35118825
1308543	Pura	purine rich element binding protein A	gene	DOID:9008617	Lethargy		ISO	RGD:1318376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	
1308543	Pura	purine rich element binding protein A	gene	DOID:9275	tyrosinemia		ISO	RGD:1318376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertyrosinemia	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:936	brain disease		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
1308543	Pura	purine rich element binding protein A	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
1308543	Pura	purine rich element binding protein A	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:27148565|PMID:28492532
1308543	Pura	purine rich element binding protein A	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1318376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:25741868|PMID:27148565|PMID:28492532
1308543	Pura	purine rich element binding protein A	gene	DOID:9840	esotropia		ISO	RGD:1318376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
1308543	Pura	purine rich element binding protein A	gene	DOID:9993	hypoglycemia		ISO	RGD:1318376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
1308547	Crygn	crystallin, gamma N	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308547	Crygn	crystallin, gamma N	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308547	Crygn	crystallin, gamma N	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308547	Crygn	crystallin, gamma N	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308547	Crygn	crystallin, gamma N	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:0061048	autosomal dominant intellectual developmental disorder 75		ISO	RGD:1318384	D	RGD:7240710	20241106	OMIM			
1308548	Dhx9	DExH-box helicase 9	gene	DOID:0061048	autosomal dominant intellectual developmental disorder 75		ISO	RGD:1318384	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DHX9-related disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 75 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 75	PMID:25741868|PMID:37369308|PMID:37467750
1308548	Dhx9	DExH-box helicase 9	gene	DOID:0080833	laryngomalacia		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:1059	intellectual disability		ISO	RGD:1318384	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1308548	Dhx9	DExH-box helicase 9	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1318384	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
1308548	Dhx9	DExH-box helicase 9	gene	DOID:10907	microcephaly		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:11714	gestational diabetes		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:11836	clubfoot		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:1324	lung cancer		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:13620	patent foramen ovale		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:1827	generalized epilepsy		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:1909	melanoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:3275	thymoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1318384	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:540	strabismus		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1308548	Dhx9	DExH-box helicase 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:630	genetic disease		ISO	RGD:1318384	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1308548	Dhx9	DExH-box helicase 9	gene	DOID:9004865	Nuchal Cord		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nuchal cord	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308548	Dhx9	DExH-box helicase 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308550	Ndufb7	NADH:ubiquinone oxidoreductase subunit B7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308550	Ndufb7	NADH:ubiquinone oxidoreductase subunit B7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308550	Ndufb7	NADH:ubiquinone oxidoreductase subunit B7	gene	DOID:1596	depressive disorder	susceptibility	IEP		D	RGD:13801196|PMID:22311638	20181105	RGD			
1308550	Ndufb7	NADH:ubiquinone oxidoreductase subunit B7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308550	Ndufb7	NADH:ubiquinone oxidoreductase subunit B7	gene	DOID:5041	esophageal cancer		ISO	RGD:1318388	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308550	Ndufb7	NADH:ubiquinone oxidoreductase subunit B7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308550	Ndufb7	NADH:ubiquinone oxidoreductase subunit B7	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1318388	D	RGD:8554872	20210316	ClinVar		ClinVar Annotator: match by term: Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	PMID:25741868|PMID:33502047
1308550	Ndufb7	NADH:ubiquinone oxidoreductase subunit B7	gene	DOID:893	Wilson disease		ISO	RGD:1318388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
1308550	Ndufb7	NADH:ubiquinone oxidoreductase subunit B7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308550	Ndufb7	NADH:ubiquinone oxidoreductase subunit B7	gene	DOID:9007680	Nuclear Type Mitochondrial Complex I Deficiency 39		ISO	RGD:1318388	D	RGD:7240710	20221214	OMIM			
1308550	Ndufb7	NADH:ubiquinone oxidoreductase subunit B7	gene	DOID:9007680	Nuclear Type Mitochondrial Complex I Deficiency 39		ISO	RGD:1318388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 39	
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:0060250	idiopathic scoliosis		ISS	RGD:1551030	D	RGD:13592920	20230718	MouseDO			
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:0061265	lethal congenital contracture syndrome 9		ISO	RGD:1318390	D	RGD:7240710	20190315	OMIM			
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:0061265	lethal congenital contracture syndrome 9		ISO	RGD:1318390	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADGRG6-related condition | ClinVar Annotator: match by term: LETHAL CONGENITAL CONTRACTURE SYNDROME 9 | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9	PMID:25741868|PMID:26004201
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1318390	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:26004201
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:10534	stomach cancer		ISO	RGD:1318390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:1115	sarcoma		ISO	RGD:1318390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:1324	lung cancer		ISO	RGD:1318390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:1909	melanoma		ISO	RGD:1318390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:3275	thymoma		ISO	RGD:1318390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318390	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:4362	cervical cancer		ISO	RGD:1318390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:5041	esophageal cancer		ISO	RGD:1318390	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:630	genetic disease		ISO	RGD:1318390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308551	Adgrg6	adhesion G protein-coupled receptor G6	gene	DOID:9256	colorectal cancer		ISO	RGD:1318390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1318392	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:0080315	megalencephalic leukoencephalopathy with subcortical cysts		ISO	RGD:1318392	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11254442
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:0080315	megalencephalic leukoencephalopathy with subcortical cysts		ISO	RGD:1318392	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy with swelling and cysts | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts	PMID:11254442|PMID:11935341|PMID:12189496|PMID:12497630|PMID:12850517|PMID:12939431|PMID:14572144|PMID:14615938|PMID:15037685|PMID:15367490|PMID:15832614|PMID:16199547|PMID:16470554|PMID:16504440|PMID:16652334|PMID:17077634|PMID:17628813|PMID:18757878|PMID:18821826|PMID:19168821|PMID:21145992|PMID:21160490|PMID:21487377|PMID:21555057|PMID:22006981|PMID:22382567|PMID:22405205|PMID:22416245|PMID:22737209|PMID:22975760|PMID:23079554|PMID:23793458|PMID:23851226|PMID:24315536|PMID:24824219|PMID:25333069|PMID:25497041|PMID:25634434|PMID:25741868|PMID:25796299|PMID:25919557|PMID:26392452|PMID:27081509|PMID:27264811|PMID:27322623|PMID:27779215|PMID:28492532|PMID:28588848|PMID:28840990|PMID:29758562|PMID:31069529|PMID:31302377|PMID:31589614|PMID:31888684|PMID:32056211|PMID:32180488|PMID:32209057|PMID:32521795|PMID:33084218|PMID:34504271|PMID:34531445|PMID:34918859|PMID:35440380|PMID:35468122|PMID:37597066|PMID:37928140|PMID:38487253|PMID:39039223|PMID:39184309
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:0080316	megalencephalic leukoencephalopathy with subcortical cysts 1		ISO	RGD:1318392	D	RGD:7240710	20180711	OMIM			
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:0080316	megalencephalic leukoencephalopathy with subcortical cysts 1		ISO	RGD:1318392	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: MLC1-related condition | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1	PMID:11254442|PMID:11935341|PMID:12189496|PMID:12497630|PMID:12850517|PMID:12939431|PMID:14572144|PMID:14615938|PMID:15037685|PMID:15367490|PMID:15992519|PMID:16199547|PMID:16470554|PMID:16504440|PMID:16652334|PMID:17077634|PMID:17576681|PMID:18757878|PMID:18821826|PMID:19168821|PMID:20301707|PMID:20560255|PMID:21145992|PMID:21160490|PMID:21555057|PMID:22006981|PMID:22328087|PMID:22382567|PMID:22405205|PMID:22416245|PMID:22975760|PMID:23793458|PMID:24315536|PMID:24824219|PMID:25333069|PMID:25497041|PMID:25634434|PMID:25741868|PMID:25767710|PMID:25796299|PMID:26349194|PMID:26392452|PMID:27081509|PMID:27264811|PMID:27322623|PMID:28492532|PMID:28588848|PMID:28840990|PMID:29667716|PMID:29758562|PMID:31069529|PMID:31178897|PMID:31589614|PMID:32056211|PMID:32209057|PMID:33084218|PMID:34504271|PMID:35440380|PMID:9536098
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:0080316	megalencephalic leukoencephalopathy with subcortical cysts 1		ISO	RGD:1318392	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 | ClinVar Annotator: match by term: MLC1-related condition | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 | ClinVar Annotator: match by term: VAN DER KNAAP DISEASE	PMID:11254442|PMID:11935341|PMID:12189496|PMID:12497630|PMID:12939431|PMID:14572144|PMID:15037685|PMID:15367490|PMID:15832614|PMID:15992519|PMID:16199547|PMID:16470554|PMID:16652334|PMID:17576681|PMID:18757878|PMID:20301707|PMID:20560255|PMID:21145992|PMID:21555057|PMID:22006981|PMID:22328087|PMID:22737209|PMID:24824219|PMID:25497041|PMID:25741868|PMID:25767710|PMID:26349194|PMID:27322623|PMID:28492532|PMID:28588848|PMID:29667716|PMID:31069529|PMID:34918859|PMID:38487253|PMID:9536098
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:0080316	megalencephalic leukoencephalopathy with subcortical cysts 1		ISS	RGD:1318393	D	RGD:13592920	20230718	MouseDO		OMIM:604004	
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:1115	sarcoma		ISO	RGD:1318392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:1826	epilepsy		ISO	RGD:1318392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:1909	melanoma		ISO	RGD:1318392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318392	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:630	genetic disease		ISO	RGD:1318392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:38487253
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1318392	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1318392	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868|PMID:31178897
1308552	Mlc1	modulator of VRAC current 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308553	Kcng4	potassium voltage-gated channel modifier subfamily G member 4	gene	DOID:1324	lung cancer		ISO	RGD:1318394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308555	Lca5	lebercilin LCA5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308555	Lca5	lebercilin LCA5	gene	DOID:0110078	Leber congenital amaurosis 1		ISO	RGD:1318396	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 1	PMID:17576681|PMID:18334959|PMID:25741868|PMID:28492532|PMID:32865313|PMID:9536098
1308555	Lca5	lebercilin LCA5	gene	DOID:0110215	Leber congenital amaurosis 5		ISO	RGD:1318396	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1308555	Lca5	lebercilin LCA5	gene	DOID:0110215	Leber congenital amaurosis 5		ISO	RGD:1318396	D	RGD:7240710	20130221	OMIM			
1308555	Lca5	lebercilin LCA5	gene	DOID:0110215	Leber congenital amaurosis 5		ISO	RGD:1318396	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LCA5-related condition | ClinVar Annotator: match by term: LCA5-related retinopathy | ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 5 | ClinVar Annotator: match by term: Leber congenital amaurosis 5 | ClinVar Annotator: match by term: Leber congenital amaurosis type 5	PMID:16199547|PMID:17546029|PMID:17576681|PMID:18000884|PMID:19503738|PMID:20301475|PMID:21602930|PMID:21606596|PMID:23661368|PMID:23946133|PMID:24144451|PMID:24265693|PMID:24474277|PMID:25356970|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26352687|PMID:26856745|PMID:27067258|PMID:27375279|PMID:27624628|PMID:28041643|PMID:28418496|PMID:28492532|PMID:30029497|PMID:31106028|PMID:3196484|PMID:31964843|PMID:32214227|PMID:32531858|PMID:32579692|PMID:33090715|PMID:33776059|PMID:33957996|PMID:34906470|PMID:36819107|PMID:36909829|PMID:8571951|PMID:9536098
1308555	Lca5	lebercilin LCA5	gene	DOID:0110215	Leber congenital amaurosis 5		ISS	RGD:1318397	D	RGD:13592920	20230718	MouseDO		OMIM:604537	
1308555	Lca5	lebercilin LCA5	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868
1308555	Lca5	lebercilin LCA5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308555	Lca5	lebercilin LCA5	gene	DOID:1432	blindness		ISO	RGD:1318396	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:17546029
1308555	Lca5	lebercilin LCA5	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1318396	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:12642313|PMID:17546029|PMID:17576681|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26352687|PMID:27624628|PMID:28041643|PMID:28418496|PMID:28492532|PMID:31456290|PMID:31964843|PMID:32483926|PMID:32531858|PMID:36909829|PMID:8571951|PMID:9536098
1308555	Lca5	lebercilin LCA5	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1318396	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:12642313|PMID:17546029|PMID:17576681|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26352687|PMID:27067258|PMID:27624628|PMID:28041643|PMID:28418496|PMID:28492532|PMID:31456290|PMID:31964843|PMID:32483926|PMID:32531858|PMID:36909829|PMID:8571951|PMID:9536098
1308555	Lca5	lebercilin LCA5	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1318396	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: leber congenital amaurosis	PMID:17546029|PMID:17576681|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25741868|PMID:26047050|PMID:28492532|PMID:31456290|PMID:31964843|PMID:9536098
1308555	Lca5	lebercilin LCA5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308555	Lca5	lebercilin LCA5	gene	DOID:4362	cervical cancer		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308555	Lca5	lebercilin LCA5	gene	DOID:5679	retinal disease		ISO	RGD:1318396	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:23946133
1308555	Lca5	lebercilin LCA5	gene	DOID:5723	optic atrophy		ISO	RGD:1318396	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1308555	Lca5	lebercilin LCA5	gene	DOID:630	genetic disease		ISO	RGD:1318396	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17546029|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25741868|PMID:28492532
1308555	Lca5	lebercilin LCA5	gene	DOID:8501	fundus dystrophy		ISO	RGD:1318396	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:17546029|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25741868|PMID:27353947|PMID:27624628|PMID:28041643|PMID:28492532|PMID:31589614|PMID:32483926|PMID:32531858
1308555	Lca5	lebercilin LCA5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308556	Sppl2b	signal peptide peptidase-like 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308556	Sppl2b	signal peptide peptidase-like 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308556	Sppl2b	signal peptide peptidase-like 2B	gene	DOID:1324	lung cancer		ISO	RGD:1601988	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308556	Sppl2b	signal peptide peptidase-like 2B	gene	DOID:1909	melanoma		ISO	RGD:1601988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308556	Sppl2b	signal peptide peptidase-like 2B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308556	Sppl2b	signal peptide peptidase-like 2B	gene	DOID:3275	thymoma		ISO	RGD:1601988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308556	Sppl2b	signal peptide peptidase-like 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1601988	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308556	Sppl2b	signal peptide peptidase-like 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308556	Sppl2b	signal peptide peptidase-like 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308556	Sppl2b	signal peptide peptidase-like 2B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308557	Ubxn2b	UBX domain protein 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308557	Ubxn2b	UBX domain protein 2B	gene	DOID:1115	sarcoma		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308557	Ubxn2b	UBX domain protein 2B	gene	DOID:4362	cervical cancer		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308557	Ubxn2b	UBX domain protein 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308557	Ubxn2b	UBX domain protein 2B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308557	Ubxn2b	UBX domain protein 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308557	Ubxn2b	UBX domain protein 2B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308557	Ubxn2b	UBX domain protein 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308557	Ubxn2b	UBX domain protein 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2299012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308558	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308558	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308558	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308558	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1308558	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:1909	melanoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308558	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:3275	thymoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308558	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308558	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318400	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308558	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308558	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:9003388	ALFADHEL SYNDROME		ISO	RGD:1318400	D	RGD:7240710	20240117	OMIM			
1308558	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:9003388	ALFADHEL SYNDROME		ISO	RGD:1318400	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALFADHEL SYNDROME | ClinVar Annotator: match by term: Alfadhel syndrome	PMID:25741868
1308558	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308558	Rap1gds1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308559	Vwa5b1	von Willebrand factor A domain containing 5B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308559	Vwa5b1	von Willebrand factor A domain containing 5B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308559	Vwa5b1	von Willebrand factor A domain containing 5B1	gene	DOID:0060058	lymphoma		ISO	RGD:1606163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308559	Vwa5b1	von Willebrand factor A domain containing 5B1	gene	DOID:1115	sarcoma		ISO	RGD:1606163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308559	Vwa5b1	von Willebrand factor A domain containing 5B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308559	Vwa5b1	von Willebrand factor A domain containing 5B1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308559	Vwa5b1	von Willebrand factor A domain containing 5B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308560	Nkiras1	NFKB inhibitor interacting Ras-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308560	Nkiras1	NFKB inhibitor interacting Ras-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308560	Nkiras1	NFKB inhibitor interacting Ras-like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308560	Nkiras1	NFKB inhibitor interacting Ras-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308561	Zbtb26	zinc finger and BTB domain containing 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:0050073	invasive aspergillosis	disease_progression	ISO	RGD:1318407	D	RGD:7483617|PMID:17379855	20131203	RGD			
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:0050486	exanthem		ISO	RGD:1318406	D	RGD:7483602|PMID:18384452	20131203	RGD		mRNA, protein:increased expression:skin	
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:1318406	D	RGD:7483601|PMID:22048239	20131203	RGD		mRNA, protein:increased expression:skin	
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:0080158	herpes simplex virus keratitis		ISO	RGD:1318407	D	RGD:7483593|PMID:15287366	20131203	RGD			
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:1205	allergic disease		ISO	RGD:1318406	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:12306	vitiligo		ISO	RGD:1318406	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20526340
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:1564	fungal infectious disease		ISO	RGD:1318406	D	RGD:7483612|PMID:22287435	20131203	RGD		associated with Rhinosinusitis	
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1318406	D	RGD:7483628|PMID:21624121	20131203	RGD			
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:1936	atherosclerosis		ISO	RGD:1318407	D	RGD:7483610|PMID:24114205	20131203	RGD			
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:7488896|PMID:19428685	20131204	RGD		mRNA:increased expression:brain	
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:2841	asthma		ISO	RGD:1318407	D	RGD:8549811|PMID:19917684	20140408	RGD		protein:increased expression:lung, dendritic cell (mouse)	
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:2920	membranoproliferative glomerulonephritis	treatment	IEP		D	RGD:7483632|PMID:23192593	20131203	RGD			
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:2986	IgA glomerulonephritis	disease_progression	ISO	RGD:1318406	D	RGD:7483632|PMID:23192593	20131203	RGD			
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:418	systemic scleroderma		ISO	RGD:1318406	D	RGD:7483587|PMID:21742595	20131202	RGD		mRNA:increased expression:skin	
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:552	pneumonia		ISO	RGD:1318406	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1318406	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453841|PMID:20453842|PMID:23143596
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:8577	ulcerative colitis		ISO	RGD:1318406	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:16306769
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:8893	psoriasis		ISO	RGD:1318406	D	RGD:7483581|PMID:10843722	20131202	RGD		mRNA:increased expression:skin	
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:8893	psoriasis		ISO	RGD:1318407	D	RGD:7483598|PMID:19662682	20131203	RGD			
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1318406	D	RGD:7483612|PMID:22287435	20131203	RGD		associated with Rhinosinusitis	
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:1318406	D	RGD:7483584|PMID:16454813	20131202	RGD			
1308562	Ccr6	C-C motif chemokine receptor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308565	Polr2d	RNA polymerase II subunit D	gene	DOID:1909	melanoma		ISO	RGD:1318411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308565	Polr2d	RNA polymerase II subunit D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308565	Polr2d	RNA polymerase II subunit D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308568	Spock2	SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308568	Spock2	SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308568	Spock2	SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308568	Spock2	SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308568	Spock2	SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308569	L3mbtl2	L3MBTL histone methyl-lysine binding protein 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:1318418	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
1308569	L3mbtl2	L3MBTL histone methyl-lysine binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308569	L3mbtl2	L3MBTL histone methyl-lysine binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308569	L3mbtl2	L3MBTL histone methyl-lysine binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1318418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308569	L3mbtl2	L3MBTL histone methyl-lysine binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308569	L3mbtl2	L3MBTL histone methyl-lysine binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1318418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308569	L3mbtl2	L3MBTL histone methyl-lysine binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308570	Atad1	ATPase family, AAA domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308570	Atad1	ATPase family, AAA domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308570	Atad1	ATPase family, AAA domain containing 1	gene	DOID:0080581	hyperekplexia 4		ISO	RGD:1318420	D	RGD:7240710	20190315	OMIM			
1308570	Atad1	ATPase family, AAA domain containing 1	gene	DOID:0080581	hyperekplexia 4		ISO	RGD:1318420	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATAD1-related condition | ClinVar Annotator: match by term: HYPEREKPLEXIA 4 | ClinVar Annotator: match by term: Hyperekplexia 4	PMID:25741868|PMID:28180185|PMID:28492532|PMID:29390050|PMID:33134516
1308570	Atad1	ATPase family, AAA domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308570	Atad1	ATPase family, AAA domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308570	Atad1	ATPase family, AAA domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1318420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308570	Atad1	ATPase family, AAA domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1318420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308574	Flrt2	fibronectin leucine rich transmembrane protein 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1318426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308574	Flrt2	fibronectin leucine rich transmembrane protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308574	Flrt2	fibronectin leucine rich transmembrane protein 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1318426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308575	Cldn8	claudin 8	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1318427	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:28377727
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318429	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:31209396
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:0110779	hereditary spastic paraplegia 28		ISO	RGD:1318429	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:0110779	hereditary spastic paraplegia 28		ISO	RGD:1318429	D	RGD:7240710	20130221	OMIM			
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:0110779	hereditary spastic paraplegia 28		ISO	RGD:1318429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DDHD1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 28, autosomal recessive	PMID:17576681|PMID:23176821|PMID:24989667|PMID:25741868|PMID:26944165|PMID:27216551|PMID:27999540|PMID:28492532|PMID:28818478|PMID:9536098
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1318429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:11830	myopia		ISO	RGD:1318429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:1596	depressive disorder		ISO	RGD:1318429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1318429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1318429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1318429	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:23176821|PMID:24989667|PMID:25741868|PMID:26944165|PMID:27216551|PMID:28492532
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1318429	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1318429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308576	Ddhd1	DDHD domain containing 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1318429	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Spasticity	
1308577	Ankrd13a	ankyrin repeat domain 13a	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308577	Ankrd13a	ankyrin repeat domain 13a	gene	DOID:10534	stomach cancer		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308577	Ankrd13a	ankyrin repeat domain 13a	gene	DOID:1115	sarcoma		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308577	Ankrd13a	ankyrin repeat domain 13a	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308577	Ankrd13a	ankyrin repeat domain 13a	gene	DOID:4362	cervical cancer		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308577	Ankrd13a	ankyrin repeat domain 13a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308577	Ankrd13a	ankyrin repeat domain 13a	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308577	Ankrd13a	ankyrin repeat domain 13a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1308577	Ankrd13a	ankyrin repeat domain 13a	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:0060249	scoliosis		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:28805828|PMID:36063408
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:0080245	Galloway-Mowat syndrome 3		ISO	RGD:1318432	D	RGD:7240710	20190315	OMIM			
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:0080245	Galloway-Mowat syndrome 3		ISO	RGD:1318432	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3 | ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 | ClinVar Annotator: match by term: OSGEP-related condition	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:29127259|PMID:30141175|PMID:30558655|PMID:31481669|PMID:31564459|PMID:33333793|PMID:33532864|PMID:34666032|PMID:35709690|PMID:35783322|PMID:36063408|PMID:36587794|PMID:36658419|PMID:36856752|PMID:37229200|PMID:37845138
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:0080694	Galloway-Mowat syndrome		ISO	RGD:1318432	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28805828
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:10907	microcephaly		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:1115	sarcoma		ISO	RGD:1318432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:1324	lung cancer		ISO	RGD:1318432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:1826	epilepsy		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:630	genetic disease		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175|PMID:34666032
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1318432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:9001581	Constipation		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:28805828
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:9004866	Ataxia		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:25741868
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:28805828|PMID:36063408
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:9007661	Dwarfism		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:28805828|PMID:36063408
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:28492532|PMID:28805828|PMID:36063408
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175
1308578	Osgep	O-sialoglycoprotein endopeptidase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:28805828|PMID:36063408
1308579	Hdhd2	haloacid dehalogenase-like hydrolase domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308579	Hdhd2	haloacid dehalogenase-like hydrolase domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308579	Hdhd2	haloacid dehalogenase-like hydrolase domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308579	Hdhd2	haloacid dehalogenase-like hydrolase domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308579	Hdhd2	haloacid dehalogenase-like hydrolase domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348609	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308579	Hdhd2	haloacid dehalogenase-like hydrolase domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348609	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308579	Hdhd2	haloacid dehalogenase-like hydrolase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308579	Hdhd2	haloacid dehalogenase-like hydrolase domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308579	Hdhd2	haloacid dehalogenase-like hydrolase domain containing 2	gene	DOID:9004657	Weight Gain		ISO	RGD:1348609	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1308581	Dipk1a	divergent protein kinase domain 1A	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:11350498|RGD:11351670|RGD:11580345|RGD:11581319|RGD:11582280|RGD:126740499|RGD:126756251|RGD:126756884|RGD:126769003|RGD:126909314|RGD:127237074|RGD:127247823|RGD:127258301|RGD:127283747|RGD:127288413|RGD:127291544|RGD:127328892|RGD:12884606|RGD:12890396|RGD:12892560|RGD:13606920|RGD:13813125|RGD:13815660|RGD:14719418|RGD:14742221|RGD:15101190|RGD:15110305|RGD:151793196|RGD:151794930|RGD:151795489|RGD:151817285|RGD:151819763|RGD:151827351|RGD:151829982|RGD:151831091|RGD:152047758|RGD:152051610|RGD:152051820|RGD:152054341|RGD:152054411|RGD:152054521|RGD:152055223|RGD:152057252|RGD:152058398|RGD:155725835|RGD:155945599|RGD:155945832|RGD:155947761|RGD:155948260|RGD:155989089|RGD:155992752|RGD:155997879|RGD:156023385|RGD:156025231|RGD:156062216|RGD:156074282|RGD:156092750|RGD:156104956|RGD:156126560|RGD:156157784|RGD:156182634|RGD:156194830|RGD:156239985|RGD:156307719|RGD:156311131|RGD:156315171|RGD:156319230|RGD:156351107|RGD:156359484|RGD:156362560|RGD:156382227|RGD:156396860|RGD:156402069|RGD:156417749|RGD:156435648|RGD:156435718|RGD:26920232|RGD:38485898|RGD:38487191|RGD:38489852|RGD:38491263|RGD:402475023|RGD:402484339|RGD:402484347|RGD:402484768|RGD:402484779|RGD:402484813|RGD:402484829|RGD:402484836|RGD:402484848|RGD:402484861|RGD:402484870|RGD:402484884|RGD:402484895|RGD:402484928|RGD:402484957|RGD:402484968|RGD:402484979|RGD:404981030|RGD:405031218|RGD:405031235|RGD:405031244|RGD:405031265|RGD:405031282|RGD:405031312|RGD:405031360|RGD:405031499|RGD:405031511|RGD:405031551|RGD:405031566|RGD:405031578|RGD:405031623|RGD:405031666|RGD:405031679|RGD:405031708|RGD:405031721|RGD:405031732|RGD:405031749|RGD:405032055|RGD:405064360|RGD:405072188|RGD:405075550	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
1308581	Dipk1a	divergent protein kinase domain 1A	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:11351670|RGD:11580345|RGD:11581319|RGD:11582280|RGD:126740499|RGD:126756251|RGD:126756884|RGD:126769003|RGD:126909314|RGD:127237074|RGD:127247823|RGD:127258301|RGD:127283747|RGD:127288413|RGD:127291544|RGD:127328892|RGD:12884606|RGD:12890396|RGD:12892560|RGD:13606920|RGD:13813125|RGD:13815660|RGD:14719418|RGD:14742221|RGD:15101190|RGD:15110305|RGD:151793196|RGD:151794930|RGD:151795489|RGD:151817285|RGD:151819763|RGD:151827351|RGD:151829982|RGD:151831091|RGD:152047758|RGD:152051610|RGD:152051820|RGD:152054341|RGD:152054411|RGD:152054521|RGD:152055223|RGD:152057252|RGD:152058398|RGD:155725835|RGD:155945599|RGD:155945832|RGD:155947761|RGD:155948260|RGD:155989089|RGD:155992752|RGD:155997879|RGD:156023385|RGD:156025231|RGD:156062216|RGD:156074282|RGD:156092750|RGD:156104956|RGD:156126560|RGD:156157784|RGD:156182634|RGD:156194830|RGD:156239985|RGD:156307719|RGD:156311131|RGD:156315171|RGD:156319230|RGD:156351107|RGD:156359484|RGD:156362560|RGD:156382227|RGD:156396860|RGD:156402069|RGD:156417749|RGD:156435648|RGD:156435718|RGD:26920232|RGD:38485898|RGD:38487191|RGD:38489852|RGD:38491263|RGD:402475023|RGD:402484339|RGD:402484347|RGD:402484768|RGD:402484779|RGD:402484813|RGD:402484829|RGD:402484836|RGD:402484848|RGD:402484861|RGD:402484870|RGD:402484884|RGD:402484895|RGD:402484928|RGD:402484957|RGD:402484968|RGD:402484979|RGD:404981030|RGD:405031218|RGD:405031235|RGD:405031244|RGD:405031265|RGD:405031282|RGD:405031312|RGD:405031360|RGD:405031499|RGD:405031511|RGD:405031551|RGD:405031566|RGD:405031578|RGD:405031623|RGD:405031666|RGD:405031679|RGD:405031708|RGD:405031721|RGD:405031732|RGD:405031749|RGD:405032055|RGD:405064360|RGD:405072188|RGD:405075550|RGD:405096143	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
1308581	Dipk1a	divergent protein kinase domain 1A	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:405096143|RGD:405210278|RGD:405235776|RGD:405252026	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
1308581	Dipk1a	divergent protein kinase domain 1A	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:405210278|RGD:405235776|RGD:405252026|RGD:405873568	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
1308581	Dipk1a	divergent protein kinase domain 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603475	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308581	Dipk1a	divergent protein kinase domain 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:0070543	neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities		ISO	RGD:1318437	D	RGD:7240710	20210120	OMIM			
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:0070543	neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities		ISO	RGD:1318437	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related condition	PMID:25741868|PMID:33015733
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1318437	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1318437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1318437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26482881
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318437	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:1318437	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308582	Shmt2	serine hydroxymethyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308584	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308584	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:0112329	pontocerebellar hypoplasia type 2F		ISO	RGD:1318440	D	RGD:7240710	20190315	OMIM			
1308584	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:0112329	pontocerebellar hypoplasia type 2F		ISO	RGD:1318440	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 2F	PMID:25741868
1308584	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308584	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308584	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:630	genetic disease		ISO	RGD:1318440	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308584	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308584	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318440	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1308584	Tsen15	tRNA splicing endonuclease subunit 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308586	Oasl	2'-5'-oligoadenylate synthetase-like	gene	DOID:1909	melanoma		ISO	RGD:1318443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308586	Oasl	2'-5'-oligoadenylate synthetase-like	gene	DOID:4362	cervical cancer		ISO	RGD:1318443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308586	Oasl	2'-5'-oligoadenylate synthetase-like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308586	Oasl	2'-5'-oligoadenylate synthetase-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308586	Oasl	2'-5'-oligoadenylate synthetase-like	gene	DOID:9001488	Human Influenza		ISO	RGD:1318443	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1308587	Slc37a1	solute carrier family 37 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308587	Slc37a1	solute carrier family 37 member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308587	Slc37a1	solute carrier family 37 member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308587	Slc37a1	solute carrier family 37 member 1	gene	DOID:1115	sarcoma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308587	Slc37a1	solute carrier family 37 member 1	gene	DOID:1324	lung cancer		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308587	Slc37a1	solute carrier family 37 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308587	Slc37a1	solute carrier family 37 member 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308587	Slc37a1	solute carrier family 37 member 1	gene	DOID:3275	thymoma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308587	Slc37a1	solute carrier family 37 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308587	Slc37a1	solute carrier family 37 member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308587	Slc37a1	solute carrier family 37 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308587	Slc37a1	solute carrier family 37 member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308587	Slc37a1	solute carrier family 37 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308587	Slc37a1	solute carrier family 37 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1308588	Loxl4	lysyl oxidase-like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308588	Loxl4	lysyl oxidase-like 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318447	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308588	Loxl4	lysyl oxidase-like 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318447	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17456585
1308588	Loxl4	lysyl oxidase-like 4	gene	DOID:1909	melanoma		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308588	Loxl4	lysyl oxidase-like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308588	Loxl4	lysyl oxidase-like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308588	Loxl4	lysyl oxidase-like 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308588	Loxl4	lysyl oxidase-like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308588	Loxl4	lysyl oxidase-like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308588	Loxl4	lysyl oxidase-like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:0080685	aortic dissection		ISO	RGD:1318449	D	RGD:8554872	20210907	ClinVar		ClinVar Annotator: match by term: Ascending aortic dissection	PMID:34409081
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1318449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:13241	Behcet's disease		ISO	RGD:1318449	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Behcet disease	PMID:25741868
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:13406	pulmonary sarcoidosis	severity	ISO	RGD:1318449	D	RGD:5024944|PMID:14641797	20110302	RGD			
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:2841	asthma		ISO	RGD:1318449	D	RGD:5024942|PMID:20860503	20110302	RGD		DNA:SNP: :rs3771166 (human)	
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:2841	asthma		ISO	RGD:1318449	D	RGD:5024945|PMID:19910030	20110302	RGD			
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:2841	asthma		ISO	RGD:1318449	D	RGD:5024946|PMID:18774397	20110302	RGD		DNA:SNPs: :multiple (human)	
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:2841	asthma		ISO	RGD:1318449	D	RGD:5024947|PMID:18382474	20110302	RGD		DNA:SNPs: :multiple (human)	
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:2841	asthma		ISO	RGD:1318450	D	RGD:5024948|PMID:11972614	20110302	RGD			
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1318449	D	RGD:4889841|PMID:15308504	20110302	RGD		protein:increased expression:lung	
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:417	autoimmune disease		ISO	RGD:1318450	D	RGD:5024943|PMID:15470078	20110302	RGD			
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318449	D	RGD:11538094|PMID:26893476	20190708	RGD		mRNA:decreased expression:liver	
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318450	D	RGD:11538094|PMID:26893476	20190708	RGD			
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:850	lung disease		ISO	RGD:1318450|RGD:1318449	D	RGD:4889574|PMID:19265174	20110302	RGD		Lung Injury	
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1318449	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
1308589	Il18r1	interleukin 18 receptor 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IEP		D	RGD:2311529|PMID:19269041	20110302	RGD		mRNA:increased expression:lymph node	
1308590	Mlx	MAX dimerization protein MLX	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308590	Mlx	MAX dimerization protein MLX	gene	DOID:0070311	oligoasthenoteratozoospermia		ISS	RGD:1619244	D	RGD:13592920	20230330	MouseDO			
1308590	Mlx	MAX dimerization protein MLX	gene	DOID:1115	sarcoma		ISO	RGD:1602902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308590	Mlx	MAX dimerization protein MLX	gene	DOID:2508	Takayasu's arteritis	susceptibility	ISO	RGD:1602902	D	RGD:401794441|PMID:30354298	20230915	RGD		DNA:SNP:cd: p.Q139R A>G (rs665268) (human)	
1308590	Mlx	MAX dimerization protein MLX	gene	DOID:2508	Takayasu's arteritis	susceptibility	ISO	RGD:1602902	D	RGD:401824641|PMID:23830516	20230918	RGD		DNA:missense mutation:cd: p.Q139R(rs665268) (human)	
1308590	Mlx	MAX dimerization protein MLX	gene	DOID:4362	cervical cancer		ISO	RGD:1602902	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308590	Mlx	MAX dimerization protein MLX	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308590	Mlx	MAX dimerization protein MLX	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308590	Mlx	MAX dimerization protein MLX	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308590	Mlx	MAX dimerization protein MLX	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308590	Mlx	MAX dimerization protein MLX	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308591	Tasp1	taspase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318453	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308591	Tasp1	taspase 1	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1318453	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome 1	
1308591	Tasp1	taspase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308591	Tasp1	taspase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308591	Tasp1	taspase 1	gene	DOID:1115	sarcoma		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308591	Tasp1	taspase 1	gene	DOID:1324	lung cancer		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308591	Tasp1	taspase 1	gene	DOID:1909	melanoma		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308591	Tasp1	taspase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308591	Tasp1	taspase 1	gene	DOID:3275	thymoma		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308591	Tasp1	taspase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308591	Tasp1	taspase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308591	Tasp1	taspase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318453	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308591	Tasp1	taspase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308591	Tasp1	taspase 1	gene	DOID:630	genetic disease		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308591	Tasp1	taspase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308591	Tasp1	taspase 1	gene	DOID:9000991	SULEIMAN-EL-HATTAB SYNDROME		ISO	RGD:1318453	D	RGD:7240710	20201118	OMIM			
1308591	Tasp1	taspase 1	gene	DOID:9000991	SULEIMAN-EL-HATTAB SYNDROME		ISO	RGD:1318453	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: SULEIMAN-EL-HATTAB SYNDROME | ClinVar Annotator: match by term: Suleiman-El-Hattab syndrome | ClinVar Annotator: match by term: TASP1-related disorder	PMID:25741868|PMID:29633245|PMID:31209944
1308591	Tasp1	taspase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308591	Tasp1	taspase 1	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1318453	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:25741868
1308591	Tasp1	taspase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308591	Tasp1	taspase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308591	Tasp1	taspase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1318453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308593	Drc8	dynein regulatory complex subunit 8	gene	DOID:0080600	COVID-19		ISO	RGD:1604261	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
1308593	Drc8	dynein regulatory complex subunit 8	gene	DOID:10534	stomach cancer		ISO	RGD:1604261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308593	Drc8	dynein regulatory complex subunit 8	gene	DOID:1115	sarcoma		ISO	RGD:1604261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308593	Drc8	dynein regulatory complex subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308593	Drc8	dynein regulatory complex subunit 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308593	Drc8	dynein regulatory complex subunit 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308593	Drc8	dynein regulatory complex subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308593	Drc8	dynein regulatory complex subunit 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308595	Susd2	sushi domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318458	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308595	Susd2	sushi domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308595	Susd2	sushi domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308595	Susd2	sushi domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308595	Susd2	sushi domain containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1318458	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Epilepsy	
1308595	Susd2	sushi domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308595	Susd2	sushi domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308595	Susd2	sushi domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318458	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308595	Susd2	sushi domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308595	Susd2	sushi domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308595	Susd2	sushi domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308596	Kif23	kinesin family member 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308596	Kif23	kinesin family member 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308596	Kif23	kinesin family member 23	gene	DOID:0080600	COVID-19		ISO	RGD:1318460	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308596	Kif23	kinesin family member 23	gene	DOID:0111399	congenital dyserythropoietic anemia type IIIa		ISO	RGD:1318460	D	RGD:7240710	20220406	OMIM			
1308596	Kif23	kinesin family member 23	gene	DOID:0111399	congenital dyserythropoietic anemia type IIIa		ISO	RGD:1318460	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIA | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1308596	Kif23	kinesin family member 23	gene	DOID:10534	stomach cancer		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308596	Kif23	kinesin family member 23	gene	DOID:10907	microcephaly		ISO	RGD:1318460	D	RGD:8554872	20170411	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:26539891
1308596	Kif23	kinesin family member 23	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308596	Kif23	kinesin family member 23	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1318460	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	
1308596	Kif23	kinesin family member 23	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308596	Kif23	kinesin family member 23	gene	DOID:4362	cervical cancer		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308596	Kif23	kinesin family member 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1318460	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308596	Kif23	kinesin family member 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308596	Kif23	kinesin family member 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318460	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308596	Kif23	kinesin family member 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308596	Kif23	kinesin family member 23	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308596	Kif23	kinesin family member 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308596	Kif23	kinesin family member 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308596	Kif23	kinesin family member 23	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1318463	D	RGD:1624151|PMID:11404820	20070502	RGD		OMIM:171300;DNA:deletion:725delC	
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1318463	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30694796|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34309460|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1318463	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30694796|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35460558|PMID:36200007|PMID:490809|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Phaeochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18057081|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19763152|PMID:19802898|PMID:19825962|PMID:20119652|PMID:20208144|PMID:20301715|PMID:20307669|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:21172883|PMID:21173220|PMID:21190975|PMID:21348866|PMID:21561462|PMID:21686655|PMID:21820839|PMID:21909610|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22406018|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22573489|PMID:22835832|PMID:22904323|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23175444|PMID:23282968|PMID:23404858|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24134185|PMID:24276837|PMID:24436918|PMID:24623741|PMID:24659481|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27867439|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28349240|PMID:28374168|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30694796|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32741965|PMID:32782288|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:33789101|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35127314|PMID:35171114|PMID:35300626|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:36936415|PMID:37529773|PMID:37900184|PMID:38473309|PMID:41252211|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:19927285|PMID:30013182
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:1624151|PMID:11404820	20070502	RGD		PGL4,OMIM:115310;DNA:point mutation:exon:R90X, P197R	
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12205103|PMID:12213855|PMID:12351569|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14643060|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15883710|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32741965|PMID:32863293|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34439168|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25405498|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35870552|PMID:36200007|PMID:490809|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36786389|PMID:490809|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36786389|PMID:490809|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16450730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19153209|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:20981092|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27882345|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28369925|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31431315|PMID:31492822|PMID:31579262|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34313605|PMID:34326862|PMID:34377882|PMID:34426522|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34703596|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35869040|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36597280|PMID:36786389|PMID:37529773|PMID:37734265|PMID:37900184|PMID:38473309|PMID:490809|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: PARAGANGLIOMA, FAMILIAL MALIGNANT | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16450730|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19153209|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19618298|PMID:19694205|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:20981092|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27882345|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28369925|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29623478|PMID:29684080|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: PARAGANGLIOMA, FAMILIAL MALIGNANT | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:31431315|PMID:31492822|PMID:31579262|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34313605|PMID:34326862|PMID:34377882|PMID:34426522|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34703596|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35869040|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:37529773|PMID:37734265|PMID:37900184|PMID:38473309|PMID:490809|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: PARAGANGLIOMA, FAMILIAL MALIGNANT | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19802898|PMID:19825962|PMID:20119652|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20459544|PMID:20505258|PMID:20540712|PMID:20592014|PMID:21173220|PMID:21190975|PMID:21348866|PMID:21561462|PMID:21820839|PMID:21909610|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22835832|PMID:22904323|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24134185|PMID:24276837|PMID:24436918|PMID:24623741|PMID:24659481|PMID:24758379|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28349240|PMID:28374168|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32661476|PMID:32741965|PMID:32782288|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:33789101|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:36936415|PMID:37900184|PMID:38473309|PMID:41252211|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1318463	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16450730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19153209|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19618298|PMID:19694205|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:20981092|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27882345|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28369925|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1318463	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:31308404|PMID:31365623|PMID:31431315|PMID:31492822|PMID:31579262|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34313605|PMID:34326862|PMID:34377882|PMID:34426522|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34703596|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35869040|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:37529773|PMID:37734265|PMID:37900184|PMID:38473309|PMID:490809|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1318463	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12362046|PMID:12364472|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:15235042|PMID:15328326|PMID:15371856|PMID:15473885|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:17102082|PMID:17102086|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18753105|PMID:18840642|PMID:19075037|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19802898|PMID:19825962|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20505258|PMID:20540712|PMID:21348866|PMID:22041710|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22835832|PMID:22904323|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23934599|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24436918|PMID:24606901|PMID:24659481|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25394176|PMID:25637381|PMID:25683602|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26198225|PMID:26302408|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27700540|PMID:27785149|PMID:27867439|PMID:28152038|PMID:28179334|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30877234|PMID:31194233|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32124427|PMID:32741965|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33777662|PMID:34255389|PMID:34439168|PMID:34750850|PMID:34906457|PMID:35441217|PMID:35460558|PMID:35673401|PMID:35869040|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36652439|PMID:36786389|PMID:36936415|PMID:37900184|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1318463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12362046|PMID:12364472|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15371856|PMID:15473885|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102083|PMID:17102086|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19153209|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19768395|PMID:19802898|PMID:19825962|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20505258|PMID:20540712|PMID:20981092|PMID:21348866|PMID:21820839|PMID:21909610|PMID:21979946|PMID:22041710|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24436918|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26071763|PMID:26092435|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26273102|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27700540|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28873162|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32124427|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33777662|PMID:33789101|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34750850|PMID:34906457|PMID:35127314|PMID:35441217|PMID:35460558|PMID:35673401|PMID:35869040|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:36936415|PMID:37900184|PMID:41252211|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19802898|PMID:19825962|PMID:20119652|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20459544|PMID:20505258|PMID:20540712|PMID:20592014|PMID:21173220|PMID:21190975|PMID:21348866|PMID:21561462|PMID:21820839|PMID:21909610|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22835832|PMID:22904323|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24134185|PMID:24276837|PMID:24436918|PMID:24623741|PMID:24659481|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25637381|PMID:25683602|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28349240|PMID:28374168|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32661476|PMID:32741965|PMID:32782288|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:33789101|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35127314|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:36936415|PMID:37900184|PMID:41252211|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0061219	pheochromocytoma/paraganglioma syndrome 4		ISO	RGD:1318463	D	RGD:7240710	20131030	OMIM			
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0061219	pheochromocytoma/paraganglioma syndrome 4		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 | ClinVar Annotator: match by term: Paragangliomas 4 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 4	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:14715873|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19802898|PMID:19825962|PMID:20119652|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20459544|PMID:20505258|PMID:20540712|PMID:20592014|PMID:20702724|PMID:21173220|PMID:21190975|PMID:21348866|PMID:21561462|PMID:21686655|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22835832|PMID:22904323|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23404858|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24134185|PMID:24276837|PMID:24436918|PMID:24466223|PMID:24595825|PMID:24623741|PMID:24659481|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27171833|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:30949620|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:33789101|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35127314|PMID:35171114|PMID:35300626|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:36936415|PMID:37529773|PMID:37900184|PMID:38473309|PMID:41252211|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1318463	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1318463	D	RGD:7240710	20130425	OMIM			
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA | ClinVar Annotator: match by term: PARAGANGLIOMA AND GASTROINTESTINAL STROMAL TUMOR | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor	PMID:12000816|PMID:12213855|PMID:12618761|PMID:15235042|PMID:15328326|PMID:15987702|PMID:16199547|PMID:16288654|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17376234|PMID:17538171|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17884808|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19184535|PMID:19215943|PMID:19351833|PMID:19393419|PMID:19411806|PMID:19454582|PMID:19576851|PMID:19802898|PMID:20119652|PMID:20208144|PMID:20418362|PMID:20459544|PMID:21173220|PMID:21348866|PMID:21820839|PMID:22270996|PMID:22293219|PMID:22517554|PMID:22835832|PMID:22904323|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23666964|PMID:23780556|PMID:23902947|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24276837|PMID:24623741|PMID:25025441|PMID:25047027|PMID:25298897|PMID:25371406|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26173966|PMID:26269449|PMID:26273102|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26749241|PMID:26916530|PMID:27011036|PMID:27634942|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28819017|PMID:28873162|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30201732|PMID:30352407|PMID:31308404|PMID:31492822|PMID:31705439|PMID:32150977|PMID:32460727|PMID:32462735|PMID:32661476|PMID:32741965|PMID:32782288|PMID:33300499|PMID:33362715|PMID:33628464|PMID:33748650|PMID:34069252|PMID:34095481|PMID:34308366|PMID:34439168|PMID:34750850|PMID:34906457|PMID:35441217|PMID:35546442|PMID:35957908|PMID:36597280|PMID:36786389|PMID:41252211
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:17576681|PMID:23434467|PMID:28374168|PMID:28492532|PMID:30050099|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:1115	sarcoma		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:1909	melanoma		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16258955|PMID:17576681|PMID:19389109|PMID:19802898|PMID:2308387|PMID:23083876|PMID:24436918|PMID:25741868|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28973655|PMID:29386252|PMID:30201732|PMID:34906457|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:2394	ovarian cancer		ISO	RGD:1318463	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:23780556|PMID:25741868|PMID:28492532
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:3070	high grade glioma		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:16317055|PMID:16472267|PMID:16912137|PMID:17667967|PMID:17804857|PMID:18419787|PMID:20418362|PMID:20459544|PMID:23512077|PMID:23666964|PMID:25741868|PMID:26467025|PMID:26556299|PMID:28374168|PMID:28492532|PMID:29909963|PMID:30050099|PMID:30201732|PMID:31492822|PMID:33300499|PMID:33362715|PMID:35441217
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1318463	D	RGD:6907134|PMID:21771581	20121030	RGD			
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1318463	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma	PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:540	strabismus		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:5723	optic atrophy		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:6457	Cowden syndrome		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cowden disease	PMID:17376234|PMID:25694510|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28819017|PMID:28873162|PMID:30086788|PMID:34906457
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:6741	bilateral breast cancer		ISO	RGD:1318463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral breast cancer	PMID:17102082|PMID:19351833|PMID:20208144|PMID:21520333|PMID:22977270|PMID:23175444|PMID:25741868|PMID:26102504|PMID:26269449|PMID:28492532|PMID:30549360|PMID:31216007|PMID:32460727|PMID:33558524|PMID:34906457|PMID:41252211
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:7400	Nijmegen breakage syndrome		ISO	RGD:1318463	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Ataxia telangiectasia variant V1	PMID:15987702|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17200167|PMID:17667967|PMID:17884808|PMID:19001511|PMID:19215943|PMID:19802898|PMID:21820839|PMID:23282968|PMID:24033266|PMID:25371406|PMID:25677497|PMID:25683602|PMID:25741868|PMID:25972245|PMID:26173966|PMID:26467025|PMID:26916530|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28492532|PMID:28738844|PMID:28873162|PMID:29386252
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9002162	Carotid Body Tumor		ISO	RGD:1318463	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Carotid body tumor	PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal neoplasm	PMID:19261679|PMID:22241717|PMID:25720320|PMID:25741868|PMID:28179334|PMID:28492532|PMID:30050099|PMID:31492822|PMID:40094795
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9002552	Cowden-Like Syndrome		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COWDEN SYNDROME 2	PMID:25741868|PMID:26729832|PMID:28492532|PMID:31104306
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9004224	Mitochondrial Complex II Deficiency Nuclear Type 4		ISO	RGD:1318463	D	RGD:7240710	20210324	OMIM			
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9004224	Mitochondrial Complex II Deficiency Nuclear Type 4		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4	PMID:12000816|PMID:12213855|PMID:15235042|PMID:15328326|PMID:15987702|PMID:16080530|PMID:16199547|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17538171|PMID:17652212|PMID:17667967|PMID:17884808|PMID:18382370|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19184535|PMID:19215943|PMID:19351833|PMID:19393419|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19802898|PMID:20119652|PMID:20208144|PMID:20418362|PMID:21173220|PMID:21561462|PMID:21820839|PMID:22270996|PMID:22293219|PMID:22517554|PMID:22835832|PMID:22904323|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23902947|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24276837|PMID:24623741|PMID:24659481|PMID:25025441|PMID:25047027|PMID:25298897|PMID:25371406|PMID:25637381|PMID:25683602|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26173966|PMID:26269449|PMID:26273102|PMID:26332594|PMID:26467025|PMID:26642834|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28873162|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30201732|PMID:30352407|PMID:30658386|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31705439|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32661476|PMID:32741965|PMID:32782288|PMID:33362715|PMID:33628464|PMID:33748650|PMID:34069252|PMID:34095481|PMID:34118692|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34750850|PMID:34906457|PMID:35441217|PMID:35546442|PMID:36200007|PMID:36597280|PMID:36786389|PMID:41252211
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:12000816|PMID:12213855|PMID:12362046|PMID:12618761|PMID:14500403|PMID:14685938|PMID:15235042|PMID:15328326|PMID:15987702|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17884808|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19184535|PMID:19215943|PMID:19261994|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19802898|PMID:19825962|PMID:20119652|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20459544|PMID:20960097|PMID:21173220|PMID:21348866|PMID:21561462|PMID:21820839|PMID:21909610|PMID:21979946|PMID:22270996|PMID:22293219|PMID:22517554|PMID:22835832|PMID:22904323|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24276837|PMID:24436918|PMID:24623741|PMID:24659481|PMID:24728327|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26173966|PMID:26269449|PMID:26273102|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27539324|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30352407|PMID:30536464|PMID:30658386|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:32023584|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32661476|PMID:32741965|PMID:32782288|PMID:32863293|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33789101|PMID:34069252|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34750850|PMID:34906457|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35546442|PMID:35673401|PMID:35904169|PMID:36200007|PMID:36597280|PMID:36786389|PMID:38473309|PMID:41252211|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12205103|PMID:12213855|PMID:12351569|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14643060|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15883710|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25677497|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34309460|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33558524|PMID:34052969|PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33558524|PMID:34052969|PMID:34309460|PMID:34439168|PMID:34452955
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:34906457|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:32971818|PMID:33300499|PMID:33362715|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35060925|PMID:35171114|PMID:36200007|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34466344|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:36200007|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33558524|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35870552|PMID:36200007|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21270786|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21716271|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23698643|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25974703|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36786389|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28650885|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36654613|PMID:36786389|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36597280|PMID:36654613|PMID:36786389|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31431315|PMID:31492822|PMID:31579262|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34313605|PMID:34326862|PMID:34377882|PMID:34426522|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34703596|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:34949766|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36597280|PMID:36654613|PMID:36786389|PMID:37529773|PMID:37734265|PMID:38473309|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16450730|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19153209|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19618298|PMID:19694205|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:20981092|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27882345|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28369925|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28650885|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29623478|PMID:29684080|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31431315|PMID:31492822|PMID:31579262|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34313605|PMID:34326862|PMID:34377882|PMID:34426522|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34703596|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:34949766|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35869040|PMID:35870552|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36654613|PMID:36786389|PMID:37529773|PMID:37734265|PMID:37840772|PMID:37900184|PMID:38473309|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12362046|PMID:12364472|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:15235042|PMID:15328326|PMID:15371856|PMID:15473885|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102086|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20583550|PMID:20605972|PMID:20890271|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21686655|PMID:21784903|PMID:21822798|PMID:21979946|PMID:22041710|PMID:22160509|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22835832|PMID:22904323|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23404858|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23833252|PMID:23934599|PMID:24033266|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24436918|PMID:24606901|PMID:24659481|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25394176|PMID:25637381|PMID:25683602|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26096992|PMID:26198225|PMID:26236513|PMID:26269449|PMID:26273102|PMID:26302408|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26960314|PMID:27159321|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27700540|PMID:27785149|PMID:27867439|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28255624|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28891197|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32150977|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33247927|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33777662|PMID:34072806|PMID:34255389|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36652439|PMID:36654613|PMID:36786389|PMID:37529773|PMID:37873498|PMID:37900184|PMID:38473309|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15371856|PMID:15473885|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16450730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17848412|PMID:17884808|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19153209|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20605972|PMID:20890271|PMID:20981092|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22160509|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23404858|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24436918|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26332594|PMID:26467025|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27279923|PMID:27539324|PMID:27573198|PMID:27634942|PMID:27700540|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29684080|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32150977|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33247927|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34069252|PMID:34072806|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35171114|PMID:35441217|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36597280|PMID:36652439|PMID:36654613|PMID:36786389|PMID:37529773|PMID:37873498|PMID:37900184|PMID:38473309|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12362046|PMID:12364472|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15371856|PMID:15473885|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16450730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102083|PMID:17102086|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19153209|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20605972|PMID:20890271|PMID:20981092|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22160509|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23404858|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24436918|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27700540|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28255624|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32150977|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33247927|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33777662|PMID:33789101|PMID:34072806|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36654613|PMID:36786389|PMID:37529773|PMID:37873498|PMID:37900184|PMID:38473309
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:41252211|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20890271|PMID:21173220|PMID:21190975|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21979946|PMID:22041710|PMID:22160509|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22835832|PMID:22904323|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23404858|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24276837|PMID:24436918|PMID:24606901|PMID:24623741|PMID:24659481|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28255624|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32971818|PMID:33219105|PMID:33247927|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:33789101|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36654613|PMID:36786389|PMID:36848172|PMID:37529773|PMID:37873498|PMID:37900184|PMID:38473309|PMID:41252211|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007167	Carney Triad		ISO	RGD:1318463	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Carney triad	PMID:15987702|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17200167|PMID:17667967|PMID:17884808|PMID:19001511|PMID:19215943|PMID:19802898|PMID:21820839|PMID:23282968|PMID:24033266|PMID:24623741|PMID:25371406|PMID:25683602|PMID:25741868|PMID:25972245|PMID:26173966|PMID:26467025|PMID:26916530|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28492532|PMID:28738844|PMID:28873162|PMID:29386252|PMID:30050099|PMID:30201732|PMID:31308404|PMID:32782288|PMID:34308366|PMID:34906457|PMID:36786389
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16080530|PMID:18382370|PMID:18753105|PMID:19351833|PMID:19454582|PMID:19522823|PMID:19802898|PMID:21561462|PMID:23735539|PMID:24659481|PMID:25047027|PMID:25741868|PMID:26960314|PMID:27573198|PMID:28490599|PMID:28492532|PMID:29386252|PMID:29951630|PMID:30050099|PMID:30201732|PMID:30658386|PMID:31212687|PMID:31216007|PMID:31492822|PMID:32462735|PMID:33748650|PMID:34118692|PMID:34439168|PMID:34439371|PMID:41252211
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:7240710	20130221	OMIM			
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:30487145|PMID:30549360|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35060925|PMID:35171114|PMID:36200007|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:30487145|PMID:30549360|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35460558|PMID:36200007|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763152|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20307669|PMID:20379037|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22406018|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25640679|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26267327|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27896548|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28650885|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29192238|PMID:29292578|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36597280|PMID:36654613|PMID:36786389|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19153209|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763152|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20307669|PMID:20379037|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20563860|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:20981092|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22406018|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:24758379|PMID:24781345|PMID:24939699|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25640679|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26267327|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27882345|PMID:27896548|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28369925|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28650885|PMID:28738844|PMID:28784873|PMID:28819017
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29292578|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31431315|PMID:31492822|PMID:31579262|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34313605|PMID:34326862|PMID:34377882|PMID:34426522|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34703596|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:34949766|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35869040|PMID:35870552|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36597280|PMID:36654613|PMID:36786389|PMID:37529773|PMID:37734265|PMID:37840772|PMID:38473309|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16450730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19153209|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763152|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20307669|PMID:20379037|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20563860|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:20981092|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22406018|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:24758379|PMID:24781345|PMID:24939699|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25640679|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26267327|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27882345|PMID:27896548|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28369925|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28650885|PMID:28738844
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29292578|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31431315|PMID:31492822|PMID:31579262|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34313605|PMID:34326862|PMID:34377882|PMID:34426522|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34703596|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:34949766|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35869040|PMID:35870552|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36597280|PMID:36654613|PMID:36786389|PMID:37529773|PMID:37734265|PMID:37840772|PMID:37900184|PMID:38473309|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GASTROINTESTINAL STROMAL TUMOR, SOMATIC | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12560550|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:14974914|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19763184|PMID:19802898|PMID:19825962|PMID:2|PMID:2010|PMID:20119652|PMID:20208144|PMID:20301715|PMID:20379037|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20563860|PMID:20583550|PMID:20592014|PMID:21172883|PMID:21173220|PMID:21190975|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21686655|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22573489|PMID:22835832|PMID:22904323|PMID:22948025|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23404858|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24436918|PMID:24623741|PMID:24659481|PMID:24781345|PMID:24859990|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25595276|PMID:25637381|PMID:25640679|PMID:25683602|PMID:25694510|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26267327|PMID:26269449|PMID:26273102|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28349240|PMID:28374168|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28650885|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29292578|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:3|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32741965|PMID:32782288|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:33789101|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34750850|PMID:34797335|PMID:34906457|PMID:34939938|PMID:34949766|PMID:35127314|PMID:35171114|PMID:35300626|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GASTROINTESTINAL STROMAL TUMOR, SOMATIC | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:36936415|PMID:37529773|PMID:37900184|PMID:38473309|PMID:40213107|PMID:41252211|PMID:7143317|PMID:9536098
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9352	type 2 diabetes mellitus		ISS	RGD:1318464	D	RGD:13592920	20220804	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9408	acute myocardial infarction	ameliorates	IEP		D	RGD:401794445|PMID:35257523	20230829	RGD		associated with obesity	
1308598	Sdhb	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532
1308599	Lrrc47	leucine rich repeat containing 47	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308599	Lrrc47	leucine rich repeat containing 47	gene	DOID:10534	stomach cancer		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308599	Lrrc47	leucine rich repeat containing 47	gene	DOID:1909	melanoma		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308599	Lrrc47	leucine rich repeat containing 47	gene	DOID:3275	thymoma		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308599	Lrrc47	leucine rich repeat containing 47	gene	DOID:4362	cervical cancer		ISO	RGD:1603205	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308599	Lrrc47	leucine rich repeat containing 47	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308599	Lrrc47	leucine rich repeat containing 47	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308599	Lrrc47	leucine rich repeat containing 47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308599	Lrrc47	leucine rich repeat containing 47	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308599	Lrrc47	leucine rich repeat containing 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308600	Dipk1b	divergent protein kinase domain 1B	gene	DOID:1324	lung cancer		ISO	RGD:1602652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308600	Dipk1b	divergent protein kinase domain 1B	gene	DOID:1909	melanoma		ISO	RGD:1602652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308600	Dipk1b	divergent protein kinase domain 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1602652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308600	Dipk1b	divergent protein kinase domain 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1602652	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308600	Dipk1b	divergent protein kinase domain 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308600	Dipk1b	divergent protein kinase domain 1B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308600	Dipk1b	divergent protein kinase domain 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308600	Dipk1b	divergent protein kinase domain 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308601	Ark2n	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308601	Ark2n	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:10534	stomach cancer		ISO	RGD:1318467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308601	Ark2n	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:1115	sarcoma		ISO	RGD:1318467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308601	Ark2n	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308601	Ark2n	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308601	Ark2n	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318467	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308601	Ark2n	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308601	Ark2n	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308605	Elovl2	ELOVL fatty acid elongase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308605	Elovl2	ELOVL fatty acid elongase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308605	Elovl2	ELOVL fatty acid elongase 2	gene	DOID:12336	male infertility		ISO	RGD:1318475	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21106902
1308605	Elovl2	ELOVL fatty acid elongase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308605	Elovl2	ELOVL fatty acid elongase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308606	Klk14	kallikrein related-peptidase 14	gene	DOID:12336	male infertility		ISO	RGD:1318477	D	RGD:8554872	20210209	ClinVar		ClinVar Annotator: match by term: Male infertility	
1308606	Klk14	kallikrein related-peptidase 14	gene	DOID:4362	cervical cancer		ISO	RGD:1318477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308606	Klk14	kallikrein related-peptidase 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308607	Trim31	tripartite motif-containing 31	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1318479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1308607	Trim31	tripartite motif-containing 31	gene	DOID:10534	stomach cancer		ISO	RGD:1318479	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308607	Trim31	tripartite motif-containing 31	gene	DOID:2772	irritant dermatitis		ISO	RGD:1318479	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27258892
1308607	Trim31	tripartite motif-containing 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308607	Trim31	tripartite motif-containing 31	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308607	Trim31	tripartite motif-containing 31	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308608	Alkbh4	alkB homolog 4, lysine demethylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308608	Alkbh4	alkB homolog 4, lysine demethylase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:0050591	tooth agenesis		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:21455487|PMID:21534943|PMID:25741868|PMID:28067412|PMID:28492532
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:0050640	anauxetic dysplasia 1		ISO	RGD:1318482	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:0080962	anauxetic dysplasia 2		ISO	RGD:1318482	D	RGD:7240710	20190315	OMIM			
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:0080962	anauxetic dysplasia 2		ISO	RGD:1318482	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANAUXETIC DYSPLASIA 2 | ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition	PMID:21455487|PMID:21534943|PMID:25741868|PMID:28067412|PMID:28492532|PMID:30408610
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:1115	sarcoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:1324	lung cancer		ISO	RGD:1318482	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1318482	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:630	genetic disease		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21455487|PMID:21534943|PMID:25741868|PMID:28067412|PMID:28492532
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318482	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308609	Pop1	POP1 ribonuclease P/MRP subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:0060320	inguinal hernia		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:1318484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Permanent Neonatal Diabetes Mellitus	PMID:10874303|PMID:12065289|PMID:25741868|PMID:28492532|PMID:29450569
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:0090117	thiamine-responsive megaloblastic anemia syndrome		ISO	RGD:1318484	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:0090117	thiamine-responsive megaloblastic anemia syndrome		ISO	RGD:1318484	D	RGD:7240710	20130221	OMIM			
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:0090117	thiamine-responsive megaloblastic anemia syndrome		ISO	RGD:1318484	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: SLC19A2-related condition | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE) | ClinVar Annotator: match by term: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia syndrome	PMID:10391221|PMID:10391223|PMID:10874303|PMID:12065289|PMID:12435857|PMID:14994241|PMID:16199547|PMID:17132746|PMID:17331069|PMID:17463047|PMID:19643445|PMID:23638917|PMID:25741868|PMID:26467025|PMID:28004468|PMID:28492532|PMID:29450569|PMID:33409956|PMID:33649974|PMID:33816400|PMID:9856490
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:0090117	thiamine-responsive megaloblastic anemia syndrome		ISS	RGD:1318485	D	RGD:13592920	20230718	MouseDO		OMIM:249270	
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:12270	coloboma		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:1324	lung cancer		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:10391221|PMID:10391223|PMID:10874303|PMID:16199547|PMID:19643445|PMID:25741868|PMID:28492532
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:13382	megaloblastic anemia		ISO	RGD:1318484	D	RGD:1599325|PMID:10391221	20070130	RGD			
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:13382	megaloblastic anemia		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia	PMID:23638917|PMID:25741868|PMID:28492532|PMID:29450569
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angle-closure glaucoma	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:25741868
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:480	movement disease		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318484	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:5723	optic atrophy		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:630	genetic disease		ISO	RGD:1318484	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19643445|PMID:25741868|PMID:28492532
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:784	chronic kidney disease		IEP		D	RGD:7327184|PMID:21149507	20130913	RGD		mRNA:decreased expression:liver, heart (rat)	
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:83	cataract		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sideroblastic anemia	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318484	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:9008681	Deafness		ISO	RGD:1318484	D	RGD:1599325|PMID:10391221	20070130	RGD			
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:1318484	D	RGD:1599325|PMID:10391221	20070130	RGD			
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
1308611	Slc19a2	solute carrier family 19 member 2	gene	DOID:9834	hyperopia		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1308612	Mrgbp	MRG domain binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308612	Mrgbp	MRG domain binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308612	Mrgbp	MRG domain binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308612	Mrgbp	MRG domain binding protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1318486	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1308612	Mrgbp	MRG domain binding protein	gene	DOID:3275	thymoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308612	Mrgbp	MRG domain binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308612	Mrgbp	MRG domain binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308612	Mrgbp	MRG domain binding protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308612	Mrgbp	MRG domain binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308612	Mrgbp	MRG domain binding protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308612	Mrgbp	MRG domain binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308612	Mrgbp	MRG domain binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308612	Mrgbp	MRG domain binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:0050562	West syndrome		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:0051062	ischemic stroke		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:0070519	early-onset vitamin B6-dependent epilepsy 4		ISO	RGD:1318489	D	RGD:7240710	20240131	OMIM			
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:0070519	early-onset vitamin B6-dependent epilepsy 4		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT	PMID:16199547|PMID:16491085|PMID:17068770|PMID:17433748|PMID:17576681|PMID:19128417|PMID:19142996|PMID:19433287|PMID:20207735|PMID:20554659|PMID:20814824|PMID:21733724|PMID:22371912|PMID:22728861|PMID:22784480|PMID:23350806|PMID:23916709|PMID:24184718|PMID:24613284|PMID:24664088|PMID:24664145|PMID:24789515|PMID:24942048|PMID:25741868|PMID:25969726|PMID:26026794|PMID:26224730|PMID:26467025|PMID:26539891|PMID:26995068|PMID:27186704|PMID:27342130|PMID:28087462|PMID:28492532|PMID:29286531|PMID:29655203|PMID:29924869|PMID:30043187|PMID:31302938|PMID:31487502|PMID:31652343|PMID:31737911|PMID:31990480|PMID:32173089|PMID:32685344|PMID:32956737|PMID:33528079|PMID:33748042|PMID:33868381|PMID:34926809|PMID:36471706|PMID:37645600|PMID:9536098
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:0080001	bone disease		ISO	RGD:1318489	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25004007
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:0080768	pyridoxine-dependent epilepsy		ISO	RGD:1318489	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:28087462
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:0080768	pyridoxine-dependent epilepsy		ISO	RGD:1318489	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Pyridoxine dependency with seizures | ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy	PMID:16159904|PMID:16199547|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17433748|PMID:17576681|PMID:17721876|PMID:18414213|PMID:18717709|PMID:19128417|PMID:19142996|PMID:19294602|PMID:19433287|PMID:20207735|PMID:20301659|PMID:20370816|PMID:20554659|PMID:20814824|PMID:21733724|PMID:22305855|PMID:22371912|PMID:22529283|PMID:22728861|PMID:22784480|PMID:22804844|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:23683770|PMID:23714749|PMID:23916709|PMID:23925287|PMID:23953072|PMID:24122892|PMID:24184718|PMID:24613284|PMID:24664088|PMID:24664145|PMID:24748525|PMID:24789515|PMID:24848745|PMID:24942048|PMID:25123644|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25969726|PMID:26026794|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26437932|PMID:26467025|PMID:26539891|PMID:26544041|PMID:26555630|PMID:26891797|PMID:26995068|PMID:27186704|PMID:27324284|PMID:27342130|PMID:27438048|PMID:27882480|PMID:28087462|PMID:28131559|PMID:28492532|PMID:28962114|PMID:29045138|PMID:29056246|PMID:29286531|PMID:29547829|PMID:29655203|PMID:29661537|PMID:29720203|PMID:29852413|PMID:29924869|PMID:29933521|PMID:30043187|PMID:31302938|PMID:31440721|PMID:31487502|PMID:31564432|PMID:31652343|PMID:31737911|PMID:31965297|PMID:31990480|PMID:32173089|PMID:32395249|PMID:32685344|PMID:32956737|PMID:33528079|PMID:33748042|PMID:33822359|PMID:33868381|PMID:34495967|PMID:34570182|PMID:34926809|PMID:35571021|PMID:35782612|PMID:37645600|PMID:9536098
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:0080768	pyridoxine-dependent epilepsy		ISO	RGD:1318489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pyridoxine dependency with seizures | ClinVar Annotator: match by term: Pyridoxine-Dependent Seizures | ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy	PMID:16199547|PMID:16491085|PMID:17068770|PMID:17433748|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:19142996|PMID:19294602|PMID:19433287|PMID:20207735|PMID:20370816|PMID:20554659|PMID:20814824|PMID:21733724|PMID:22305855|PMID:22371912|PMID:22529283|PMID:22728861|PMID:22784480|PMID:22804844|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:23683770|PMID:23916709|PMID:23925287|PMID:23953072|PMID:24184718|PMID:24613284|PMID:24664088|PMID:24664145|PMID:24789515|PMID:24848745|PMID:24942048|PMID:25123644|PMID:25640679|PMID:25741868|PMID:25969726|PMID:26026794|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:26539891|PMID:26544041|PMID:26555630|PMID:26891797|PMID:26995068|PMID:27342130|PMID:27438048|PMID:28087462|PMID:28131559|PMID:28492532|PMID:28962114|PMID:29045138|PMID:29286531|PMID:2945505|PMID:29455050|PMID:29547829|PMID:29655203|PMID:29661537|PMID:29720203|PMID:29852413|PMID:29924869|PMID:29933521|PMID:30043187|PMID:31302938|PMID:31388081|PMID:31440721|PMID:31487502|PMID:31564432|PMID:31652343|PMID:31737911|PMID:31965297|PMID:31990480|PMID:32173089|PMID:32395249|PMID:32593896|PMID:32685344|PMID:32695065|PMID:32956737|PMID:33528079|PMID:33748042|PMID:33822359|PMID:33868381|PMID:34495967|PMID:34570182|PMID:34926809|PMID:35571021|PMID:35782612|PMID:36198807|PMID:36471706|PMID:37645600|PMID:38605122|PMID:38636407|PMID:9536098
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:0080768	pyridoxine-dependent epilepsy		ISS	RGD:1318490	D	RGD:13592920	20230718	MouseDO		OMIM:266100	
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:16491085|PMID:19128417|PMID:20554659|PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:16491085|PMID:19128417|PMID:20554659|PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:10534	stomach cancer		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:1059	intellectual disability		ISO	RGD:1318489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:19142996|PMID:25741868|PMID:28087462|PMID:28492532|PMID:30043187|PMID:39213953
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:10908	hydrocephalus		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:16491085|PMID:17068770|PMID:17576681|PMID:18717709|PMID:20554659|PMID:23350806|PMID:25741868|PMID:26101365|PMID:26232297|PMID:28492532|PMID:30043187|PMID:31564432|PMID:31990480|PMID:9536098
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:1115	sarcoma		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:11832	visual epilepsy		ISO	RGD:1318489	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure	PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:28492532|PMID:29056246|PMID:30043187|PMID:9536098
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:12270	coloboma		ISO	RGD:1318489	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25004007
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:1324	lung cancer		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:14264	benign neonatal seizures		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: neonatal seizures	PMID:16199547|PMID:16491085|PMID:20554659|PMID:21733724|PMID:25741868|PMID:28492532|PMID:36471706
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:1826	epilepsy		ISO	RGD:1318489	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder	PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:20554659|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:28492532|PMID:29056246|PMID:30043187
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:1826	epilepsy		ISO	RGD:1318489	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure	PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:20554659|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:28492532|PMID:29056246|PMID:30043187|PMID:31564432|PMID:31990480|PMID:9536098
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:1826	epilepsy		ISO	RGD:1318489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:16199547|PMID:16491085|PMID:17068770|PMID:17576681|PMID:18717709|PMID:19128417|PMID:20370816|PMID:20554659|PMID:20814824|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:23953072|PMID:24184718|PMID:24848745|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:27324284|PMID:28492532|PMID:29056246|PMID:30043187|PMID:31564432|PMID:31990480|PMID:9536098
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:19142996|PMID:25741868|PMID:28087462|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:1909	melanoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:16491085|PMID:20554659|PMID:20814824|PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:2394	ovarian cancer		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:3070	high grade glioma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:3275	thymoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:4188	echolalia		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:22371912|PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:4362	cervical cancer		ISO	RGD:1318489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16199547|PMID:16491085|PMID:20554659|PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:480	movement disease		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:16491085|PMID:18717709|PMID:20554659|PMID:25741868|PMID:26101365|PMID:26232297|PMID:28492532|PMID:31564432
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318489	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:6039	uveal melanoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:630	genetic disease		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16491085|PMID:17068770|PMID:17576681|PMID:18717709|PMID:19128417|PMID:20207735|PMID:20554659|PMID:20814824|PMID:22371912|PMID:22784480|PMID:23350806|PMID:24184718|PMID:24613284|PMID:24664088|PMID:24942048|PMID:25741868|PMID:25969726|PMID:26101365|PMID:26232297|PMID:26467025|PMID:27342130|PMID:28087462|PMID:28492532|PMID:29286531|PMID:30043187|PMID:31564432|PMID:31737911|PMID:32956737|PMID:33868381|PMID:34926809|PMID:9536098
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1318489	D	RGD:152995286|PMID:30901224	20220614	RGD		mRNA:altered expression:liver tumor (human)	
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1318489	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9000918	Disease Progression		ISO	RGD:1318489	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9002079	Paresis		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1318489	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:16491085|PMID:18717709|PMID:19128417|PMID:20554659|PMID:25741868|PMID:26101365|PMID:26232297|PMID:28492532|PMID:31564432
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9004866	Ataxia		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:16491085|PMID:18717709|PMID:20554659|PMID:25741868|PMID:26101365|PMID:26232297|PMID:28492532|PMID:31564432
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19142996|PMID:25741868|PMID:28087462|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:16491085|PMID:17068770|PMID:17576681|PMID:18717709|PMID:20554659|PMID:23350806|PMID:25741868|PMID:26101365|PMID:26232297|PMID:28492532|PMID:30043187|PMID:31564432|PMID:31990480|PMID:9536098
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9256	colorectal cancer		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:936	brain disease		ISO	RGD:1318489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:16199547|PMID:16491085|PMID:20554659|PMID:25741868|PMID:28492532|PMID:30043187
1308614	Aldh7a1	aldehyde dehydrogenase 7 family, member A1	gene	DOID:9840	esotropia		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:28492532
1308615	Slc35a3	solute carrier family 35 member A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308615	Slc35a3	solute carrier family 35 member A3	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1318491	D	RGD:8554872	20210810	ClinVar		ClinVar Annotator: match by term: Arthrogryposis | ClinVar Annotator: match by term: Guérin-Stern syndrome	PMID:25741868|PMID:28492532
1308615	Slc35a3	solute carrier family 35 member A3	gene	DOID:1324	lung cancer		ISO	RGD:1318491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308615	Slc35a3	solute carrier family 35 member A3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308615	Slc35a3	solute carrier family 35 member A3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318491	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308615	Slc35a3	solute carrier family 35 member A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308615	Slc35a3	solute carrier family 35 member A3	gene	DOID:630	genetic disease		ISO	RGD:1318491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308615	Slc35a3	solute carrier family 35 member A3	gene	DOID:9008858	Arthrogryposis, Impaired Intellectual Development, and Seizures		ISO	RGD:1318491	D	RGD:7240710	20140911	OMIM			
1308615	Slc35a3	solute carrier family 35 member A3	gene	DOID:9008858	Arthrogryposis, Impaired Intellectual Development, and Seizures		ISO	RGD:1318491	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Arthrogryposis, mental retardation, and seizures | ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome | ClinVar Annotator: match by term: SLC35A3-related condition	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24031089|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28328131|PMID:28490743|PMID:28492532|PMID:28777481|PMID:31440721|PMID:33416188|PMID:9536098
1308615	Slc35a3	solute carrier family 35 member A3	gene	DOID:9008858	Arthrogryposis, Impaired Intellectual Development, and Seizures		ISO	RGD:1318491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Arthrogryposis, mental retardation, and seizures | ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome | ClinVar Annotator: match by term: SLC35A3-related condition	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24031089|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28328131|PMID:28490743|PMID:28492532|PMID:28777481|PMID:31440721|PMID:9536098
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:0060058	lymphoma		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:0080413	developmental and epileptic encephalopathy 18		ISO	RGD:1603692	D	RGD:7240710	20140911	OMIM			
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:0080413	developmental and epileptic encephalopathy 18		ISO	RGD:1603692	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 18 | ClinVar Annotator: match by term: SZT2-related condition	PMID:16199547|PMID:17576681|PMID:23932106|PMID:25741868|PMID:26467025|PMID:27159321|PMID:27248490|PMID:28492532|PMID:28556953|PMID:29100083|PMID:29358611|PMID:29696782|PMID:30359774|PMID:30560016|PMID:30564332|PMID:30755392|PMID:30818181|PMID:32723703|PMID:35352205|PMID:35773235|PMID:35982160|PMID:36034301|PMID:9536098
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:0080512	Meier-Gorlin syndrome 1		ISO	RGD:1603692	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Meier-Gorlin syndrome 1	PMID:23932106|PMID:27248490|PMID:28556953
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:0110918	hereditary spherocytosis type 3		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spherocytosis type 3	PMID:23932106|PMID:25741868|PMID:28556953|PMID:32402703
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1603692	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:10534	stomach cancer		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:1059	intellectual disability		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23932106|PMID:25741868|PMID:27248490|PMID:28492532|PMID:28556953
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:10907	microcephaly		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:10908	hydrocephalus		ISO	RGD:1603692	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Severe hydrocephalus	PMID:23932106|PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:1115	sarcoma		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:11383	cryptorchidism		ISO	RGD:1603692	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: undescended testicle	PMID:25741868|PMID:28492532|PMID:30564332|PMID:30755392|PMID:35773235
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:11383	cryptorchidism		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:11830	myopia		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:11832	visual epilepsy		ISO	RGD:1603692	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:9536098
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:12849	autistic disorder		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:1324	lung cancer		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:1826	epilepsy		ISO	RGD:1603692	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:9536098
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:1826	epilepsy		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:23932106|PMID:25741868|PMID:27248490|PMID:28492532|PMID:28556953|PMID:29358611
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:1827	generalized epilepsy		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:1909	melanoma		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:2234	focal epilepsy		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:23932106|PMID:25741868|PMID:27248490|PMID:28492532|PMID:28556953|PMID:29100083
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:2841	asthma		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:3070	high grade glioma		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal tonic seizure	PMID:23932106|PMID:25741868|PMID:27248490|PMID:28492532|PMID:28556953|PMID:29100083
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:480	movement disease		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1603692	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:535	sleep disorder		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:630	genetic disease		ISO	RGD:1603692	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:23932106|PMID:25741868|PMID:26467025|PMID:27248490|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:29590070|PMID:30564332|PMID:35982160|PMID:36034301|PMID:37667433|PMID:9536098
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:630	genetic disease		ISO	RGD:1603692	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:23932106|PMID:25741868|PMID:26467025|PMID:27248490|PMID:28492532|PMID:28556953|PMID:29358611|PMID:35982160|PMID:36034301|PMID:9536098
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:8927	learning disability		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:23932106|PMID:25741868|PMID:27248490|PMID:28492532|PMID:28556953
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:9000053	Headache		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:9000983	Encephalocele		ISO	RGD:1603692	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalocele	PMID:23932106|PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:9003507	Premature Birth		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:9007661	Dwarfism		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
1308616	Szt2	SZT2 subunit of KICSTOR complex	gene	DOID:9970	obesity		ISO	RGD:1603692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
1308617	Zfp287	zinc finger protein 287	gene	DOID:10283	prostate cancer		ISO	RGD:1318494	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1308617	Zfp287	zinc finger protein 287	gene	DOID:10283	prostate cancer		ISO	RGD:1318494	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1308617	Zfp287	zinc finger protein 287	gene	DOID:1115	sarcoma		ISO	RGD:1318494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308617	Zfp287	zinc finger protein 287	gene	DOID:1324	lung cancer		ISO	RGD:1318494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308617	Zfp287	zinc finger protein 287	gene	DOID:1909	melanoma		ISO	RGD:1318494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308617	Zfp287	zinc finger protein 287	gene	DOID:4362	cervical cancer		ISO	RGD:1318494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308617	Zfp287	zinc finger protein 287	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308618	Tagap	T-cell activation RhoGTPase activating protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308618	Tagap	T-cell activation RhoGTPase activating protein	gene	DOID:0060058	lymphoma		ISO	RGD:1318496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308618	Tagap	T-cell activation RhoGTPase activating protein	gene	DOID:0080600	COVID-19		ISO	RGD:1318496	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
1308618	Tagap	T-cell activation RhoGTPase activating protein	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1318496	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842|PMID:23143596
1308618	Tagap	T-cell activation RhoGTPase activating protein	gene	DOID:8778	Crohn's disease		ISO	RGD:1318496	D	RGD:11554173	20221101	CTD		CTD Direct Evidence: marker/mechanism	PMID:21102463|PMID:36038634
1308618	Tagap	T-cell activation RhoGTPase activating protein	gene	DOID:8893	psoriasis		ISO	RGD:1318496	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143594
1308619	Zscan25	zinc finger and SCAN domain containing 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308619	Zscan25	zinc finger and SCAN domain containing 25	gene	DOID:1324	lung cancer		ISO	RGD:1318498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308619	Zscan25	zinc finger and SCAN domain containing 25	gene	DOID:1909	melanoma		ISO	RGD:1318498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308619	Zscan25	zinc finger and SCAN domain containing 25	gene	DOID:4362	cervical cancer		ISO	RGD:1318498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308619	Zscan25	zinc finger and SCAN domain containing 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308620	Ocstamp	osteoclast stimulatory transmembrane protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1352743	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308621	Crybg2	crystallin beta-gamma domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308621	Crybg2	crystallin beta-gamma domain containing 2	gene	DOID:0080600	COVID-19		ISO	RGD:1318501	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308621	Crybg2	crystallin beta-gamma domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308621	Crybg2	crystallin beta-gamma domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1318501	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308621	Crybg2	crystallin beta-gamma domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1318501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308621	Crybg2	crystallin beta-gamma domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308621	Crybg2	crystallin beta-gamma domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318501	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308621	Crybg2	crystallin beta-gamma domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308621	Crybg2	crystallin beta-gamma domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308621	Crybg2	crystallin beta-gamma domain containing 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1318501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308621	Crybg2	crystallin beta-gamma domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308621	Crybg2	crystallin beta-gamma domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308621	Crybg2	crystallin beta-gamma domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1308621	Crybg2	crystallin beta-gamma domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308622	Pdzd8	PDZ domain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308622	Pdzd8	PDZ domain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1318503	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308622	Pdzd8	PDZ domain containing 8	gene	DOID:9003701	Intellectual Developmental Disorder with Autism and Dysmorphic Facies		ISO	RGD:1318503	D	RGD:7240710	20221116	OMIM			
1308622	Pdzd8	PDZ domain containing 8	gene	DOID:9003701	Intellectual Developmental Disorder with Autism and Dysmorphic Facies		ISO	RGD:1318503	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Intellectual developmental disorder with autism and dysmorphic facies	PMID:25741868|PMID:35227461
1308622	Pdzd8	PDZ domain containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308622	Pdzd8	PDZ domain containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308622	Pdzd8	PDZ domain containing 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308622	Pdzd8	PDZ domain containing 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1318503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308623	Zfp668	zinc finger protein 668	gene	DOID:10907	microcephaly		ISO	RGD:1605939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	PMID:34313816
1308623	Zfp668	zinc finger protein 668	gene	DOID:10907	microcephaly		ISO	RGD:1605939	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	
1308623	Zfp668	zinc finger protein 668	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308623	Zfp668	zinc finger protein 668	gene	DOID:2661	myoepithelioma		ISO	RGD:1605939	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1308623	Zfp668	zinc finger protein 668	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308623	Zfp668	zinc finger protein 668	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605939	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive | ClinVar Annotator: match by term: failure to thrive	
1308623	Zfp668	zinc finger protein 668	gene	DOID:9005566	NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES		ISO	RGD:1605939	D	RGD:7240710	20230505	OMIM			
1308623	Zfp668	zinc finger protein 668	gene	DOID:9005566	NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES		ISO	RGD:1605939	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies | ClinVar Annotator: match by term: ZNF668-related condition	PMID:25741868
1308623	Zfp668	zinc finger protein 668	gene	DOID:9005834	Ependymomas		ISO	RGD:1605939	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075792
1308624	Neu4	neuraminidase 4	gene	DOID:3275	thymoma		ISO	RGD:1318506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308624	Neu4	neuraminidase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308624	Neu4	neuraminidase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308624	Neu4	neuraminidase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1318506	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308624	Neu4	neuraminidase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308624	Neu4	neuraminidase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308626	Slain1	SLAIN motif family, member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308626	Slain1	SLAIN motif family, member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308626	Slain1	SLAIN motif family, member 1	gene	DOID:1115	sarcoma		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308626	Slain1	SLAIN motif family, member 1	gene	DOID:1324	lung cancer		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308626	Slain1	SLAIN motif family, member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308626	Slain1	SLAIN motif family, member 1	gene	DOID:3275	thymoma		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308626	Slain1	SLAIN motif family, member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308626	Slain1	SLAIN motif family, member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308626	Slain1	SLAIN motif family, member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308627	Sf3a2	splicing factor 3A subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308627	Sf3a2	splicing factor 3A subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308627	Sf3a2	splicing factor 3A subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308627	Sf3a2	splicing factor 3A subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308627	Sf3a2	splicing factor 3A subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308627	Sf3a2	splicing factor 3A subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308627	Sf3a2	splicing factor 3A subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:1324	lung cancer		ISO	RGD:1318511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:1909	melanoma		ISO	RGD:1318511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:3070	high grade glioma		ISO	RGD:1318511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:3275	thymoma		ISO	RGD:1318511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:4448	macular degeneration		ISO	RGD:1318511	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30742112
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1318511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:9001488	Human Influenza		ISO	RGD:1318511	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308628	Parp12	poly (ADP-ribose) polymerase family, member 12	gene	DOID:9256	colorectal cancer		ISO	RGD:1318511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308629	Crybg1	crystallin beta-gamma domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308629	Crybg1	crystallin beta-gamma domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308629	Crybg1	crystallin beta-gamma domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308629	Crybg1	crystallin beta-gamma domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1318513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308629	Crybg1	crystallin beta-gamma domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1318513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308629	Crybg1	crystallin beta-gamma domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1318513	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:22402438
1308629	Crybg1	crystallin beta-gamma domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1318513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308629	Crybg1	crystallin beta-gamma domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308629	Crybg1	crystallin beta-gamma domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308629	Crybg1	crystallin beta-gamma domain containing 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1318513	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:22402438
1308629	Crybg1	crystallin beta-gamma domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308629	Crybg1	crystallin beta-gamma domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308629	Crybg1	crystallin beta-gamma domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308631	Maml1	mastermind-like transcriptional coactivator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308631	Maml1	mastermind-like transcriptional coactivator 1	gene	DOID:10283	prostate cancer		ISO	RGD:1318517	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1308631	Maml1	mastermind-like transcriptional coactivator 1	gene	DOID:10283	prostate cancer		ISO	RGD:1318517	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1308631	Maml1	mastermind-like transcriptional coactivator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308631	Maml1	mastermind-like transcriptional coactivator 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1318518	D	RGD:13524575|PMID:26067594	20180423	RGD		protein:increased expression:spinal chord	
1308631	Maml1	mastermind-like transcriptional coactivator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308631	Maml1	mastermind-like transcriptional coactivator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308631	Maml1	mastermind-like transcriptional coactivator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308631	Maml1	mastermind-like transcriptional coactivator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308632	Zbbx	zinc finger, B-box domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308632	Zbbx	zinc finger, B-box domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308632	Zbbx	zinc finger, B-box domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308632	Zbbx	zinc finger, B-box domain containing	gene	DOID:1909	melanoma		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308632	Zbbx	zinc finger, B-box domain containing	gene	DOID:2394	ovarian cancer		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308632	Zbbx	zinc finger, B-box domain containing	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308632	Zbbx	zinc finger, B-box domain containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308632	Zbbx	zinc finger, B-box domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308632	Zbbx	zinc finger, B-box domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308633	Stard3nl	STARD3 N-terminal like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308633	Stard3nl	STARD3 N-terminal like	gene	DOID:10534	stomach cancer		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308633	Stard3nl	STARD3 N-terminal like	gene	DOID:1909	melanoma		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308633	Stard3nl	STARD3 N-terminal like	gene	DOID:3275	thymoma		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308633	Stard3nl	STARD3 N-terminal like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308633	Stard3nl	STARD3 N-terminal like	gene	DOID:4362	cervical cancer		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308633	Stard3nl	STARD3 N-terminal like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308633	Stard3nl	STARD3 N-terminal like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308633	Stard3nl	STARD3 N-terminal like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308634	Amn	amnion associated transmembrane protein	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1308634	Amn	amnion associated transmembrane protein	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:1318522	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Cobalamin deficiency	PMID:25741868
1308634	Amn	amnion associated transmembrane protein	gene	DOID:13250	diarrhea		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	
1308634	Amn	amnion associated transmembrane protein	gene	DOID:13382	megaloblastic anemia		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism	PMID:12590260|PMID:15024727|PMID:16199547|PMID:17576681|PMID:21750092|PMID:22078000|PMID:22631584|PMID:22929189|PMID:24044590|PMID:25741868|PMID:28492532|PMID:30691194|PMID:32045704|PMID:9536098
1308634	Amn	amnion associated transmembrane protein	gene	DOID:13382	megaloblastic anemia	susceptibility	ISO	RGD:1318522	D	RGD:1599101|PMID:12590260	20070116	RGD			
1308634	Amn	amnion associated transmembrane protein	gene	DOID:2355	anemia		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	
1308634	Amn	amnion associated transmembrane protein	gene	DOID:3021	acute kidney failure		ISO	RGD:1318522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:20514524
1308634	Amn	amnion associated transmembrane protein	gene	DOID:3275	thymoma		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308634	Amn	amnion associated transmembrane protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1318522	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308634	Amn	amnion associated transmembrane protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308634	Amn	amnion associated transmembrane protein	gene	DOID:630	genetic disease		ISO	RGD:1318522	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308634	Amn	amnion associated transmembrane protein	gene	DOID:9000197	Edema		ISO	RGD:1318522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:17698245
1308634	Amn	amnion associated transmembrane protein	gene	DOID:9001579	Neurogenic Inflammation		ISO	RGD:1318522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16938409|PMID:17698245
1308634	Amn	amnion associated transmembrane protein	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:1318522	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA	PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17285242|PMID:17576681|PMID:21750092|PMID:22078000|PMID:22929189|PMID:24044590|PMID:24156255|PMID:25741868|PMID:26040326|PMID:28492532|PMID:30523278|PMID:32045704|PMID:6741523|PMID:9536098
1308634	Amn	amnion associated transmembrane protein	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:1318522	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA	PMID:12590260|PMID:13852753|PMID:16199547|PMID:17576681|PMID:21750092|PMID:22929189|PMID:25741868|PMID:26040326|PMID:28492532|PMID:30523278|PMID:6741523|PMID:9536098
1308634	Amn	amnion associated transmembrane protein	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA	PMID:12590260|PMID:16199547|PMID:17576681|PMID:22929189|PMID:25741868|PMID:28492532|PMID:9536098
1308634	Amn	amnion associated transmembrane protein	gene	DOID:9006825	Imerslund-Grasbeck Syndrome		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome	PMID:12590260|PMID:16199547|PMID:17576681|PMID:22929189|PMID:25741868|PMID:28492532|PMID:30523278|PMID:33491342|PMID:33693455|PMID:9536098
1308634	Amn	amnion associated transmembrane protein	gene	DOID:9007240	Imerslund-Grasbeck Syndrome 2		ISO	RGD:1318522	D	RGD:11071839|PMID:17114957	20160615	RGD		DNA:mutation:splice site:	
1308634	Amn	amnion associated transmembrane protein	gene	DOID:9007240	Imerslund-Grasbeck Syndrome 2		ISO	RGD:1318522	D	RGD:7240710	20200610	OMIM			
1308634	Amn	amnion associated transmembrane protein	gene	DOID:9007240	Imerslund-Grasbeck Syndrome 2		ISO	RGD:1318522	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMERSLUND-GRASBECK SYNDROME 2 | ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE	PMID:12590260|PMID:22929189|PMID:25741868|PMID:26040326|PMID:28492532|PMID:30523278|PMID:33693455
1308634	Amn	amnion associated transmembrane protein	gene	DOID:9008385	Vomiting		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	
1308634	Amn	amnion associated transmembrane protein	gene	DOID:9008511	Extravasation of Diagnostic and Therapeutic Materials		ISO	RGD:1318522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:17698245
1308634	Amn	amnion associated transmembrane protein	gene	DOID:9637	stomatitis		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomatitis	
1308635	Dnlz	DNL-type zinc finger	gene	DOID:10534	stomach cancer		ISO	RGD:2289758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308635	Dnlz	DNL-type zinc finger	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2289758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308636	Rnf187	ring finger protein 187	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308636	Rnf187	ring finger protein 187	gene	DOID:4362	cervical cancer		ISO	RGD:1606704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308636	Rnf187	ring finger protein 187	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308636	Rnf187	ring finger protein 187	gene	DOID:5041	esophageal cancer		ISO	RGD:1606704	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308636	Rnf187	ring finger protein 187	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308636	Rnf187	ring finger protein 187	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308637	Ccdc90b	coiled-coil domain containing 90B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308637	Ccdc90b	coiled-coil domain containing 90B	gene	DOID:3275	thymoma		ISO	RGD:1605354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308637	Ccdc90b	coiled-coil domain containing 90B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308637	Ccdc90b	coiled-coil domain containing 90B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308637	Ccdc90b	coiled-coil domain containing 90B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308637	Ccdc90b	coiled-coil domain containing 90B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308637	Ccdc90b	coiled-coil domain containing 90B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308638	Phf7	PHD finger protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308638	Phf7	PHD finger protein 7	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318527	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	
1308638	Phf7	PHD finger protein 7	gene	DOID:1115	sarcoma		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308638	Phf7	PHD finger protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308638	Phf7	PHD finger protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308638	Phf7	PHD finger protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308638	Phf7	PHD finger protein 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1318533	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1318533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:1115	sarcoma		ISO	RGD:1318533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:1318533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:1909	melanoma		ISO	RGD:1318533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1318533	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308642	Naca	nascent polypeptide associated complex subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308643	Zfp266	zinc finger protein 266	gene	DOID:3275	thymoma		ISO	RGD:1354483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308643	Zfp266	zinc finger protein 266	gene	DOID:5041	esophageal cancer		ISO	RGD:1354483	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308643	Zfp266	zinc finger protein 266	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308643	Zfp266	zinc finger protein 266	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308645	Slfn2	schlafen family member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318537	D	RGD:11554173	20231205	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308645	Slfn2	schlafen family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2291763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308647	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308647	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:10283	prostate cancer		ISO	RGD:1318539	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1308647	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308647	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308647	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308647	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308647	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318539	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308647	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308647	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308647	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308647	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308647	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1318539	D	RGD:11554173	20221206	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1308647	Abtb3	ankyrin repeat and BTB domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308649	Elavl1	ELAV like RNA binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308649	Elavl1	ELAV like RNA binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308649	Elavl1	ELAV like RNA binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1318543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308649	Elavl1	ELAV like RNA binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1318543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308649	Elavl1	ELAV like RNA binding protein 1	gene	DOID:289	endometriosis		ISO	RGD:1318543	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20889954
1308649	Elavl1	ELAV like RNA binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308649	Elavl1	ELAV like RNA binding protein 1	gene	DOID:90	degenerative disc disease		IEP		D	RGD:407571673|PMID:33372336	20240925	RGD		associated with diabetes mellitus;protein:decreased expression:nucleus pulposus	
1308649	Elavl1	ELAV like RNA binding protein 1	gene	DOID:90	degenerative disc disease		ISO	RGD:1318543	D	RGD:407571673|PMID:33372336	20240925	RGD		associated with diabetes mellitus;protein:decreased expression:nucleus pulposus	
1308649	Elavl1	ELAV like RNA binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308650	Sema5a	semaphorin 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318544	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308650	Sema5a	semaphorin 5A	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:1318544	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Infantile epilepsy syndrome	PMID:25741868
1308650	Sema5a	semaphorin 5A	gene	DOID:10534	stomach cancer		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308650	Sema5a	semaphorin 5A	gene	DOID:1059	intellectual disability		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1308650	Sema5a	semaphorin 5A	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1318544	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25648254
1308650	Sema5a	semaphorin 5A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308650	Sema5a	semaphorin 5A	gene	DOID:11830	myopia		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1308650	Sema5a	semaphorin 5A	gene	DOID:12849	autistic disorder		ISO	RGD:1318544	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17028446
1308650	Sema5a	semaphorin 5A	gene	DOID:12849	autistic disorder		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1308650	Sema5a	semaphorin 5A	gene	DOID:1324	lung cancer		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308650	Sema5a	semaphorin 5A	gene	DOID:1826	epilepsy		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1308650	Sema5a	semaphorin 5A	gene	DOID:1909	melanoma		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308650	Sema5a	semaphorin 5A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308650	Sema5a	semaphorin 5A	gene	DOID:3275	thymoma		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308650	Sema5a	semaphorin 5A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308650	Sema5a	semaphorin 5A	gene	DOID:4362	cervical cancer		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308650	Sema5a	semaphorin 5A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308650	Sema5a	semaphorin 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308650	Sema5a	semaphorin 5A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308650	Sema5a	semaphorin 5A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308650	Sema5a	semaphorin 5A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1308650	Sema5a	semaphorin 5A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308650	Sema5a	semaphorin 5A	gene	DOID:9256	colorectal cancer		ISO	RGD:1318544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1318548	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: MYH-associated polyposis	PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:33471991
1308653	Stk11	serine/threonine kinase 11	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:1318548	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:25186627|PMID:25741868|PMID:26010451|PMID:26467025|PMID:26898890|PMID:27756406|PMID:28492532|PMID:30287823|PMID:30857943|PMID:31159747|PMID:31819097|PMID:32068069|PMID:32490123|PMID:33471991
1308653	Stk11	serine/threonine kinase 11	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:1318548	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:25186627|PMID:25741868|PMID:26010451|PMID:26467025|PMID:26898890|PMID:27756406|PMID:28135145|PMID:28492532|PMID:30287823|PMID:30857943|PMID:31159747|PMID:31819097|PMID:32068069|PMID:32490123|PMID:33471991
1308653	Stk11	serine/threonine kinase 11	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli	PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:33471991
1308653	Stk11	serine/threonine kinase 11	gene	DOID:0050922	gastrointestinal carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastrointestinal carcinoma	PMID:19892943|PMID:27821076|PMID:32462036
1308653	Stk11	serine/threonine kinase 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:0080369	ovarian sex-cord stromal tumor		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian sex cord-stromal tumor	PMID:15188174|PMID:16287113|PMID:17404884|PMID:25741868|PMID:26467025|PMID:27993330|PMID:28492532|PMID:30134342|PMID:31591497|PMID:33534223|PMID:34386569|PMID:37334562|PMID:39169716|PMID:39225118|PMID:9428765|PMID:9887330
1308653	Stk11	serine/threonine kinase 11	gene	DOID:0080409	familial adenomatous polyposis 1		ISO	RGD:1318548	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Familial adenomatous polyposis 1	PMID:25741868
1308653	Stk11	serine/threonine kinase 11	gene	DOID:0080410	familial adenomatous polyposis 2		ISO	RGD:1318548	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis	PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:33471991
1308653	Stk11	serine/threonine kinase 11	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified	PMID:25741868|PMID:26080840|PMID:26295973|PMID:28492532|PMID:30287823|PMID:36243179
1308653	Stk11	serine/threonine kinase 11	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:10017	multiple endocrine neoplasia type 1		ISO	RGD:1318548	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Wermer syndrome	PMID:25741868|PMID:28492532|PMID:30287823|PMID:33471991
1308653	Stk11	serine/threonine kinase 11	gene	DOID:10041	dysplastic nevus syndrome		ISO	RGD:1318548	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: B-K MOLE SYNDROME	PMID:19340305|PMID:23555315|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26580448|PMID:27615706|PMID:27978560|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:32957588|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35171259|PMID:35264596
1308653	Stk11	serine/threonine kinase 11	gene	DOID:10154	small intestine cancer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: small intestine cancer	PMID:26845104
1308653	Stk11	serine/threonine kinase 11	gene	DOID:10283	prostate cancer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:25741868|PMID:28492532|PMID:34326862|PMID:34849607
1308653	Stk11	serine/threonine kinase 11	gene	DOID:10534	stomach cancer		ISO	RGD:1318548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:36988593
1308653	Stk11	serine/threonine kinase 11	gene	DOID:10763	hypertension		ISO	RGD:1318548	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19289642
1308653	Stk11	serine/threonine kinase 11	gene	DOID:10808	gastric ulcer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric ulcer	PMID:19892943|PMID:27821076|PMID:32462036
1308653	Stk11	serine/threonine kinase 11	gene	DOID:11830	myopia		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:34326862|PMID:36243179
1308653	Stk11	serine/threonine kinase 11	gene	DOID:12176	goiter		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:12849	autistic disorder		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1324	lung cancer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1380	endometrial cancer		ISO	RGD:1318548	D	RGD:2291944|PMID:18245476	20080404	RGD			
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1380	endometrial cancer		ISO	RGD:1318549	D	RGD:2291944|PMID:18245476	20080404	RGD			
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1380	endometrial cancer		ISS	RGD:1318549	D	RGD:13592920	20180518	MouseDO		OMIM:608089	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:15188174|PMID:15863673|PMID:16110486|PMID:16287113|PMID:23612973|PMID:24604241|PMID:25741868|PMID:28492532|PMID:32462036|PMID:34849607|PMID:35101336|PMID:9760200
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1520	colon carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1596	depressive disorder		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:34326862|PMID:36243179
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1612	breast cancer		ISO	RGD:1318548	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17576681|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823|PMID:9536098
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1612	breast cancer		ISO	RGD:1318548	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1612	breast cancer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast	PMID:17711506|PMID:24033266|PMID:24793789|PMID:25503501|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:30833958
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1318548	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17676035
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1318548	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1793	pancreatic cancer		ISO	RGD:1318548	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098869
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1793	pancreatic cancer		ISO	RGD:1318548	D	RGD:7240710	20130425	OMIM			
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1891	optic nerve disease		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1909	melanoma		ISO	RGD:1318548	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma	PMID:10201537|PMID:10208439|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28821472|PMID:28873162|PMID:29458332
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1909	melanoma		ISO	RGD:1318548	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma	PMID:10208439|PMID:10353780|PMID:15188174|PMID:16287113|PMID:17319781|PMID:20435009|PMID:25741868|PMID:26467025|PMID:27467201|PMID:28492532|PMID:9760200
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1909	melanoma		ISO	RGD:1318548	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC | ClinVar Annotator: match by term: Melanoma	PMID:11668633|PMID:15188174|PMID:16287113|PMID:19340305|PMID:23555315|PMID:23612973|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26580448|PMID:27615706|PMID:27978560|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:32957588|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35101336|PMID:35171259|PMID:35264596
1308653	Stk11	serine/threonine kinase 11	gene	DOID:1924	hypogonadism		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:2030	anxiety disorder		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:34326862|PMID:36243179
1308653	Stk11	serine/threonine kinase 11	gene	DOID:219	colon cancer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1318548	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: familial ovarian cancer	PMID:10353780|PMID:15188174|PMID:16287113|PMID:17319781|PMID:20435009|PMID:24652667|PMID:25741868|PMID:26319365|PMID:26467025|PMID:26976419|PMID:27311873|PMID:28492532|PMID:30287823|PMID:32980694|PMID:33471991|PMID:34011629|PMID:35264596|PMID:9760200
1308653	Stk11	serine/threonine kinase 11	gene	DOID:2841	asthma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:34326862|PMID:36243179
1308653	Stk11	serine/threonine kinase 11	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1318548	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:299	adenocarcinoma		ISO	RGD:1318548	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17676035
1308653	Stk11	serine/threonine kinase 11	gene	DOID:2998	testicular cancer		ISO	RGD:1318548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malignant tumor of testis | ClinVar Annotator: match by term: Testicular cancer	PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:28869103|PMID:33471991
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3125	multiple endocrine neoplasia		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Endocrine adenomatosis multiple	PMID:25741868|PMID:28492532|PMID:30287823|PMID:33471991
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3275	thymoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3459	breast carcinoma		ISO	RGD:1318548	D	RGD:2291945|PMID:16785781	20080404	RGD		protein:decreased expression:breast	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3459	breast carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast | ClinVar Annotator: match by term: Multifocal breast carcinoma	PMID:10780518|PMID:15800014|PMID:19892943|PMID:23718828|PMID:25741868|PMID:25980754|PMID:26353884|PMID:26467025|PMID:26898890|PMID:28492532|PMID:29641532|PMID:31712642|PMID:32658311|PMID:34326862|PMID:34849607|PMID:39130150
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3459	breast carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast | ClinVar Annotator: match by term: Multifocal breast carcinoma	PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:28492532|PMID:29641532|PMID:32658311|PMID:34326862|PMID:34849607|PMID:39130150
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1318548	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:26887594
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3701	cervical mucinous adenocarcinoma	disease_progression	ISO	RGD:1318548	D	RGD:2291947|PMID:12533684	20080404	RGD		DNA:mutations	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISO	RGD:1318548	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:26887594
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISO	RGD:1318548	D	RGD:1600691|PMID:14511394	20070322	RGD			
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISO	RGD:1318548	D	RGD:7240710	20130221	OMIM			
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISO	RGD:1318548	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Lentiginosis, perioral | ClinVar Annotator: match by term: Peutz-Jeghers syndrome	PMID:10208439|PMID:10217080|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11103790|PMID:11297520|PMID:11389158|PMID:11430832|PMID:11668633|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12829253|PMID:12865922|PMID:14623934|PMID:14970844|PMID:15121768|PMID:15188174|PMID:15200509|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16648371|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18594528|PMID:18687677|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19250387|PMID:19340305|PMID:19727776|PMID:19763152|PMID:19892943|PMID:19908348|PMID:20082862|PMID:20223037|PMID:20307669|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20623358|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:21411391|PMID:21816872|PMID:22382802|PMID:22406018|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23426006|PMID:23515270|PMID:23527983|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24260271|PMID:24295069|PMID:24304607|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24949325|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25841653|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26625312|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27550049|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27721366|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28231849|PMID:28303455|PMID:28391433|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29419869|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29685139|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:30997075|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31515776|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32508039|PMID:32566746|PMID:32573125|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35189935|PMID:35264596|PMID:35467778|PMID:36243179|PMID:36315513|PMID:36988593|PMID:37323311
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISO	RGD:1318548	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Lentiginosis, perioral | ClinVar Annotator: match by term: Peutz-Jeghers syndrome	PMID:37377590|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISO	RGD:1318548	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Periorificial lentiginosis syndrome | ClinVar Annotator: match by term: Peutz-Jeghers syndrome	PMID:34761457|PMID:34849607|PMID:35171259|PMID:35189935|PMID:35224145|PMID:35264596|PMID:35430768|PMID:35467778|PMID:35534704|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36578081|PMID:36988593|PMID:37017260|PMID:37323311|PMID:37377590|PMID:37937776|PMID:38028594|PMID:38136308|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISO	RGD:1318548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEUTZ-JEGHERS SYNDROME | ClinVar Annotator: match by term: Periorificial lentiginosis syndrome | ClinVar Annotator: match by term: Peutz Jeghers Syndrome | ClinVar Annotator: match by term: Peutz-Jeghers syndrome | ClinVar Annotator: match by term: Peutz-jeghers syndrome	PMID:10207048|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11|PMID:11389158|PMID:12372054|PMID:12552571|PMID:12829253|PMID:12865922|PMID:14623934|PMID:14970844|PMID:15121768|PMID:15188174|PMID:15200509|PMID:15561763|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16648371|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17124587|PMID:17404884|PMID:17576681|PMID:17711506|PMID:17924967|PMID:19250387|PMID:19340305|PMID:19727776|PMID:19763152|PMID:19892943|PMID:19908348|PMID:20307669|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20616022|PMID:20623358|PMID:21118512|PMID:21411391|PMID:21520333|PMID:22382802|PMID:22406018|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23426006|PMID:23430953|PMID:23515270|PMID:23527983|PMID:23555315|PMID:23584481|PMID:23612973|PMID:23672593|PMID:23718779|PMID:23718828|PMID:23892522|PMID:23893923|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24260271|PMID:24295069|PMID:24304607|PMID:24556621|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24949325|PMID:24998845|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25778705|PMID:25841653|PMID:25980754|PMID:26010451|PMID:26225618|PMID:26319365|PMID:26353884|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26580448|PMID:26607058|PMID:26625312|PMID:26976419|PMID:26979979|PMID:27060149|PMID:27311873|PMID:27615706|PMID:27721366|PMID:27821076|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28231849|PMID:28303455|PMID:28391433|PMID:28492532|PMID:28560011|PMID:28580595|PMID:28724667|PMID:28767289|PMID:28869103|PMID:28873162|PMID:28944238|PMID:29045518|PMID:29192238|PMID:29310834|PMID:29368341|PMID:29399144|PMID:29419869|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29685139|PMID:30082870|PMID:30092773|PMID:30134342|PMID:30267214|PMID:30287823|PMID:30334930|PMID:30374176|PMID:30528796|PMID:30689838|PMID:30833958|PMID:30850667|PMID:30888642|PMID:30997075|PMID:31383922|PMID:31422818|PMID:31469826|PMID:31515776|PMID:31591497|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31852928|PMID:31871109|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32573125|PMID:32658311|PMID:32957588|PMID:32980694|PMID:33471991|PMID:33534223|PMID:34011629|PMID:34326862|PMID:34386569|PMID:34754157|PMID:34849607|PMID:35101336|PMID:35171259|PMID:35189935|PMID:35264596|PMID:35467778|PMID:36072793|PMID:36243179|PMID:36550395|PMID:36977404|PMID:37017260|PMID:37334562|PMID:37377590|PMID:38028594|PMID:38136308|PMID:38981878|PMID:39115133|PMID:39169716|PMID:39225118|PMID:4103092|PMID:837816|PMID:85|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISO	RGD:1318548	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PEUTZ-JEGHERS SYNDROME | ClinVar Annotator: match by term: Periorificial lentiginosis syndrome | ClinVar Annotator: match by term: Peutz Jeghers Syndrome | ClinVar Annotator: match by term: Peutz-Jeghers syndrome | ClinVar Annotator: match by term: Peutz-jeghers syndrome	PMID:10207048|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11|PMID:11389158|PMID:12372054|PMID:12552571|PMID:12829253|PMID:12865922|PMID:14970844|PMID:15121768|PMID:15188174|PMID:15200509|PMID:15561763|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16648371|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17124587|PMID:17404884|PMID:17576681|PMID:17711506|PMID:17924967|PMID:19250387|PMID:19340305|PMID:19727776|PMID:19763152|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20307669|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20616022|PMID:20623358|PMID:21118512|PMID:21411391|PMID:21520333|PMID:22382802|PMID:22406018|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23426006|PMID:23430953|PMID:23515270|PMID:23527983|PMID:23555315|PMID:23584481|PMID:23612973|PMID:23672593|PMID:23718779|PMID:23718828|PMID:23892522|PMID:23893923|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24260271|PMID:24295069|PMID:24304607|PMID:24556621|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24949325|PMID:24998845|PMID:25186627|PMID:25226294|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25778705|PMID:25841653|PMID:25980754|PMID:26010451|PMID:26225618|PMID:26319365|PMID:26353884|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26580448|PMID:26607058|PMID:26625312|PMID:26898890|PMID:26976419|PMID:26979979|PMID:27060149|PMID:27311873|PMID:27615706|PMID:27721366|PMID:27821076|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28199989|PMID:28231849|PMID:28303455|PMID:28391433|PMID:28492532|PMID:28560011|PMID:28580595|PMID:28724667|PMID:28767289|PMID:28869103|PMID:28873162|PMID:28944238|PMID:29045518|PMID:29192238|PMID:29310834|PMID:29368341|PMID:29399144|PMID:29419869|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29685139|PMID:30082870|PMID:30092773|PMID:30134342|PMID:30267214|PMID:30287823|PMID:30334930|PMID:30374176|PMID:30528796|PMID:30689838|PMID:30833958|PMID:30850667|PMID:30888642|PMID:30997075|PMID:31383922|PMID:31422818|PMID:31469826|PMID:31515776|PMID:31591497|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31852928|PMID:31871109|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32573125|PMID:32658311|PMID:32957588|PMID:32980694|PMID:33471991|PMID:33534223|PMID:34011629|PMID:34326862|PMID:34386569|PMID:34754157|PMID:34849607|PMID:35101336|PMID:35171259|PMID:35189935|PMID:35264596|PMID:35467778|PMID:36072793|PMID:36243179|PMID:36550395|PMID:36977404|PMID:36988593|PMID:37017260|PMID:37334562|PMID:37377590|PMID:38028594|PMID:38136308|PMID:38981878|PMID:39115133|PMID:39130150|PMID:39169716|PMID:39225118|PMID:39603093|PMID:4103092|PMID:837816|PMID:85|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3852	Peutz-Jeghers syndrome		ISS	RGD:1318549	D	RGD:13592920	20230718	MouseDO		OMIM:175200	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318548	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:15800014|PMID:17676035|PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous Cell Lung Carcinoma	PMID:25741868
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318548	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:24793789
1308653	Stk11	serine/threonine kinase 11	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318548	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
1308653	Stk11	serine/threonine kinase 11	gene	DOID:4001	ovarian carcinoma	susceptibility	ISO	RGD:1318548	D	RGD:2298556|PMID:10429654	20080710	RGD		DNA:loss of heterozygosity, missense mutation:p.P281L	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:480	movement disease		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA	PMID:15188174|PMID:16287113|PMID:19340305|PMID:23555315|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27615706|PMID:28135145|PMID:28492532|PMID:30374176|PMID:30528796|PMID:33471991
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1318548	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:19340305|PMID:23555315|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27615706|PMID:28135145|PMID:28492532|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:32957588|PMID:33471991
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:24033266|PMID:24307375|PMID:24728327|PMID:24857785|PMID:25157968|PMID:25343854|PMID:25741868|PMID:26010451|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:28135145|PMID:28492532|PMID:28577310|PMID:28873162|PMID:28977883|PMID:30287823|PMID:30982232|PMID:32566746
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991|PMID:34849607
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991|PMID:34849607|PMID:35171259|PMID:36243179
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991|PMID:34439939|PMID:34849607|PMID:35171259|PMID:36243179
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:36243179
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30455982|PMID:30982232|PMID:31269945|PMID:31871109|PMID:32566746|PMID:33471991|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:36243179
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30455982|PMID:30982232|PMID:31269945|PMID:31871109|PMID:32566746|PMID:33471991|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:35534704|PMID:36243179
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30455982|PMID:30982232|PMID:31269945|PMID:31871109|PMID:32566746|PMID:33471991|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35534704|PMID:36243179
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30982232|PMID:31269945|PMID:31871109|PMID:32566746|PMID:33471991|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35534704|PMID:36243179|PMID:37937776
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:27756406|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30857943|PMID:30982232|PMID:31269945|PMID:31819097|PMID:31871109|PMID:32490123|PMID:32566746|PMID:33471991|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35534704|PMID:36243179|PMID:37937776
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:27756406|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30857943|PMID:30982232|PMID:31269945|PMID:31819097|PMID:31871109|PMID:32490123|PMID:32566746|PMID:33471991|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:35534704|PMID:36243179|PMID:37937776
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:17711506|PMID:18594528|PMID:19892943|PMID:21191700|PMID:23555315|PMID:24307375|PMID:24857785|PMID:25343854|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:28492532|PMID:28977883|PMID:30287823|PMID:30476936|PMID:30982232|PMID:31871109|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35171259|PMID:35218119|PMID:35264596|PMID:36243179|PMID:36977404
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10429654|PMID:10676634|PMID:11430832|PMID:17711506|PMID:18594528|PMID:19892943|PMID:21191700|PMID:23555315|PMID:24307375|PMID:24857785|PMID:25343854|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:28492532|PMID:28977883|PMID:30287823|PMID:30476936|PMID:30982232|PMID:31871109|PMID:32658311|PMID:33471991|PMID:34849607|PMID:35171259|PMID:35218119|PMID:35264596|PMID:36243179|PMID:36977404
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11430832|PMID:24307375|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26467025|PMID:28492532|PMID:30287823|PMID:30476936|PMID:30982232|PMID:31871109|PMID:32658311|PMID:33471991|PMID:34849607|PMID:35171259|PMID:35218119|PMID:35264596|PMID:36243179|PMID:36977404
1308653	Stk11	serine/threonine kinase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6225	Cronkhite-Canada syndrome		ISO	RGD:1318548	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18311138
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6225	Cronkhite-Canada syndrome		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal polyposis	PMID:25741868|PMID:28492532|PMID:30287823|PMID:32980694
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:7240710	20240221	OMIM			
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20240220	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:10201537|PMID:10208439|PMID:10676634|PMID:11668633|PMID:15188174|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25157968|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26928227|PMID:26979979|PMID:27467201|PMID:28492532|PMID:28944238|PMID:29045518|PMID:30093976|PMID:30287823|PMID:30885352|PMID:32647375|PMID:33020649|PMID:33471991|PMID:34849607|PMID:9536098|PMID:9887330
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:10201537|PMID:10208439|PMID:10676634|PMID:11668633|PMID:15188174|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25157968|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26928227|PMID:26979979|PMID:27467201|PMID:28492532|PMID:28944238|PMID:29045518|PMID:30093976|PMID:30287823|PMID:30885352|PMID:32647375|PMID:33020649|PMID:33471991|PMID:34849607|PMID:35264596|PMID:9536098|PMID:9887330
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:10201537|PMID:10208439|PMID:10676634|PMID:11668633|PMID:15188174|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25157968|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26928227|PMID:26979979|PMID:27467201|PMID:28492532|PMID:28944238|PMID:29045518|PMID:30093976|PMID:30287823|PMID:30885352|PMID:32647375|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:9536098|PMID:9887330
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:10201537|PMID:10208439|PMID:10676634|PMID:11668633|PMID:15188174|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25157968|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26928227|PMID:26979979|PMID:27467201|PMID:28492532|PMID:28944238|PMID:29045518|PMID:30093976|PMID:30287823|PMID:30885352|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:9536098|PMID:9887330
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:10201537|PMID:10208439|PMID:10676634|PMID:10780518|PMID:11668633|PMID:15188174|PMID:15800014|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25157968|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26928227|PMID:26979979|PMID:27467201|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30093976|PMID:30287823|PMID:30885352|PMID:31159747|PMID:31742824|PMID:32658311|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:9536098|PMID:9887330
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:10201537|PMID:10208439|PMID:10676634|PMID:10780518|PMID:11668633|PMID:15188174|PMID:15800014|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26928227|PMID:26979979|PMID:27467201|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30093976|PMID:30287823|PMID:30885352|PMID:31159747|PMID:31742824|PMID:32658311|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:9536098|PMID:9887330
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:10201537|PMID:10208439|PMID:10676634|PMID:10780518|PMID:11668633|PMID:15188174|PMID:15800014|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26928227|PMID:26979979|PMID:27467201|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30093976|PMID:30287823|PMID:30885352|PMID:31159747|PMID:31742824|PMID:32658311|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:36243179|PMID:37017260|PMID:9536098|PMID:9887330
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:10201537|PMID:10208439|PMID:10676634|PMID:10780518|PMID:11668633|PMID:15188174|PMID:15800014|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26928227|PMID:26979979|PMID:27467201|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30093976|PMID:30287823|PMID:30885352|PMID:31159747|PMID:31422574|PMID:31712642|PMID:31742824|PMID:32658311|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:36243179|PMID:37017260|PMID:9536098|PMID:9887330
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:10201537|PMID:10208439|PMID:10676634|PMID:10780518|PMID:11668633|PMID:12552571|PMID:15188174|PMID:15800014|PMID:16287113|PMID:16407837|PMID:17404884|PMID:17576681|PMID:19340305|PMID:19892943|PMID:23399955|PMID:23555315|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26928227|PMID:26979979|PMID:27467201|PMID:27615706|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30093976|PMID:30287823|PMID:30374176|PMID:30885352|PMID:31159747|PMID:31422574|PMID:31712642|PMID:31742824|PMID:32658311|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:36243179|PMID:37017260|PMID:9536098|PMID:9887330
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:10201537|PMID:10208439|PMID:10676634|PMID:10780518|PMID:11668633|PMID:12552571|PMID:15188174|PMID:15800014|PMID:16287113|PMID:16407837|PMID:17404884|PMID:19340305|PMID:19892943|PMID:23399955|PMID:23555315|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26928227|PMID:26979979|PMID:27467201|PMID:27615706|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28944238|PMID:29368341|PMID:30093976|PMID:30287823|PMID:30374176|PMID:30885352|PMID:31159747|PMID:31422574|PMID:31712642|PMID:32658311|PMID:33020649|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35264596|PMID:36243179|PMID:37017260|PMID:9887330
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1	PMID:10780518|PMID:15800014|PMID:19340305|PMID:19892943|PMID:23555315|PMID:23718828|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26353884|PMID:26467025|PMID:26580448|PMID:27615706|PMID:27978560|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:31712642|PMID:32957588|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35171259|PMID:35264596
1308653	Stk11	serine/threonine kinase 11	gene	DOID:6846	familial melanoma		ISO	RGD:1318548	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:19340305|PMID:23555315|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26580448|PMID:27615706|PMID:27978560|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:32957588|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35171259|PMID:35264596
1308653	Stk11	serine/threonine kinase 11	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:7998	hyperthyroidism		IEP		D	RGD:10059691|PMID:18669938	20190506	RGD		mRNA,protein:increased expression:muscle:	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:7998	hyperthyroidism		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:34326862|PMID:36243179
1308653	Stk11	serine/threonine kinase 11	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1318549	D	RGD:2291943|PMID:18381428	20080404	RGD			
1308653	Stk11	serine/threonine kinase 11	gene	DOID:8923	skin melanoma		ISO	RGD:1318548	D	RGD:11554173	20241224	CTD		CTD Direct Evidence: marker/mechanism	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:8923	skin melanoma		ISO	RGD:1318548	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY	PMID:10201537|PMID:10208439|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28821472|PMID:28873162|PMID:29458332
1308653	Stk11	serine/threonine kinase 11	gene	DOID:8923	skin melanoma		ISO	RGD:1318548	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY	PMID:25741868|PMID:26467025|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:8923	skin melanoma		ISO	RGD:1318548	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:19340305|PMID:23555315|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26580448|PMID:27467201|PMID:27615706|PMID:27978560|PMID:28492532|PMID:28944238|PMID:29045518|PMID:29368341|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:32957588|PMID:33471991|PMID:34326862|PMID:34849607|PMID:35171259|PMID:35264596
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1318548	D	RGD:2291948|PMID:12114407	20080404	RGD		associated with Breast Neoplasms;protein:decreased expression	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9000727	Syncope		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9001733	Tinnitus		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian neoplasm	PMID:25741868|PMID:26467025|PMID:28492532|PMID:31383922|PMID:31469826|PMID:31592449
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9003507	Premature Birth		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:34326862|PMID:36243179
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1318548	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1318548	D	RGD:7240710	20130731	OMIM			
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis | ClinVar Annotator: match by term: Testicular germ cell tumor	PMID:19340305|PMID:23555315|PMID:23893923|PMID:24652667|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27615706|PMID:28135145|PMID:28492532|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:32957588|PMID:33471991
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1318549	D	RGD:1601391|PMID:17098823	20080404	RGD		protein:decreased expression:heart	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9003987	Gastric Polyposis		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric polyposis	PMID:19892943|PMID:27821076|PMID:32462036
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:14970844|PMID:16287113|PMID:16582077|PMID:16775120|PMID:19340305|PMID:20393878|PMID:20623358|PMID:21118512|PMID:22775437|PMID:23399955|PMID:23555315|PMID:23893923|PMID:24604241|PMID:24652667|PMID:25186627|PMID:25741868|PMID:25841653|PMID:25980754|PMID:26467025|PMID:27615706|PMID:28135145|PMID:28492532|PMID:30082870|PMID:30267214|PMID:30287823|PMID:30374176|PMID:32957588|PMID:33471991|PMID:35224145
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1318548	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19289642
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9005077	Joint Instability		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1318548	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17676035
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1318548	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:28492532|PMID:29419869|PMID:30334930
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17404884|PMID:17576681|PMID:17676035|PMID:17711506|PMID:18321849|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28640387|PMID:28724667|PMID:28767289|PMID:28821472|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29641532|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30455982|PMID:30528796|PMID:30669267|PMID:30982232|PMID:31159747|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31592449|PMID:31712642|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32566746|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32957588|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34849607|PMID:35467778|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:36988593|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:36315513|PMID:36988593|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31206626|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:36243179|PMID:36315513|PMID:36988593|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31206626|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34849607|PMID:35264596|PMID:35467778|PMID:36243179|PMID:36315513|PMID:36988593|PMID:37377590|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:31159747|PMID:31206626|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32490123|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35467778|PMID:36243179|PMID:36315513|PMID:36988593|PMID:37377590|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:31068090|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35467778|PMID:35534704|PMID:36243179|PMID:36315513|PMID:36578081|PMID:36988593|PMID:37323311|PMID:37377590|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:31068090|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34754157|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35467778|PMID:35534704|PMID:36243179|PMID:36315513|PMID:36578081|PMID:36988593|PMID:37323311|PMID:37377590|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:31068090|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32504210|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:33528079|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34754157|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35430768|PMID:35467778|PMID:35534704|PMID:36243179|PMID:36315513|PMID:36578081|PMID:36988593|PMID:37323311|PMID:37377590|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27697855|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30082870|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:31068090|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32504210|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:33528079|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34754157|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35430768|PMID:35467778|PMID:35534704|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36578081|PMID:36988593|PMID:37017260|PMID:37323311|PMID:37377590|PMID:37937776|PMID:38028594|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23426006|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27697855|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30082870|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:30997075|PMID:31068090|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422574|PMID:31422818|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32504210|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:33528079|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34471991|PMID:34754157|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35224145|PMID:35264596|PMID:35430768|PMID:35467778|PMID:35534704|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36578081|PMID:36988593|PMID:37017260|PMID:37323311|PMID:37377590|PMID:37937776|PMID:38028594|PMID:38136308|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:9887330|PMID:9908348|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10207048|PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23426006|PMID:23430953|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24556621|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26225618|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27697855|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29192238|PMID:29310834|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30082870|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30885352|PMID:30982232|PMID:30997075|PMID:31068090|PMID:31159747|PMID:31206626|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422574|PMID:31422818|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32504210|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33309985|PMID:33471991|PMID:33528079|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34754157|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35224145|PMID:35264596|PMID:35430768|PMID:35467778|PMID:35534704|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36578081|PMID:37017260|PMID:37323311|PMID:37377590|PMID:37937776|PMID:38136308|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10207048|PMID:10208439|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11389158|PMID:12112668|PMID:12372054|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15561763|PMID:15608654|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18495044|PMID:18687677|PMID:18846624|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20497868|PMID:20559149|PMID:21118512|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23430953|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23718828|PMID:23893923|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24998845|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26225618|PMID:26319365|PMID:26353884|PMID:26430231|PMID:26467025|PMID:26580448|PMID:26607058|PMID:26976419|PMID:26979979|PMID:27060149|PMID:27081308|PMID:27311873|PMID:27467201|PMID:27615706|PMID:27696107|PMID:27821076|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28185117|PMID:28492532|PMID:28560011|PMID:28580595|PMID:28724667|PMID:28869103|PMID:28873162|PMID:28944238|PMID:29045518|PMID:29310834|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:30082870|PMID:30092773|PMID:30093976|PMID:30134342|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30528796|PMID:30594553|PMID:30833958|PMID:30850667|PMID:30997075|PMID:31068090|PMID:31159747|PMID:31217475|PMID:31383922|PMID:31422574|PMID:31469826|PMID:31554794|PMID:31591497|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31871109|PMID:32068069|PMID:32459922|PMID:32462036|PMID:32647375|PMID:32658311|PMID:32957588|PMID:32980694|PMID:33471991|PMID:33534223|PMID:34011629|PMID:34103092|PMID:34326862|PMID:34386569|PMID:34439939|PMID:34754157|PMID:34849607|PMID:35101336|PMID:35171259|PMID:35218119|PMID:35264596|PMID:36072793|PMID:36243179|PMID:36578081|PMID:36977404|PMID:37017260|PMID:37334562|PMID:37377590|PMID:38660671|PMID:38981878|PMID:39169716|PMID:39225118|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10207048|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11389158|PMID:12112668|PMID:12372054|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18495044|PMID:18687677|PMID:18846624|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:20497868|PMID:20559149|PMID:21118512|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23430953|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23718828|PMID:23893923|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24998845|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26225618|PMID:26319365|PMID:26353884|PMID:26430231|PMID:26467025|PMID:26580448|PMID:26607058|PMID:26898890|PMID:26976419|PMID:26979979|PMID:27060149|PMID:27081308|PMID:27311873|PMID:27467201|PMID:27615706|PMID:27696107|PMID:27821076|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28185117|PMID:28492532|PMID:28560011|PMID:28580595|PMID:28724667|PMID:28869103|PMID:28873162|PMID:28944238|PMID:29045518|PMID:29310834|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:30082870|PMID:30092773|PMID:30093976|PMID:30134342|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30528796|PMID:30594553|PMID:30833958|PMID:30850667|PMID:30997075|PMID:31159747|PMID:31217475|PMID:31383922|PMID:31422574|PMID:31469826|PMID:31554794|PMID:31591497|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31871109|PMID:32068069|PMID:32459922|PMID:32462036|PMID:32647375|PMID:32658311|PMID:32957588|PMID:32980694|PMID:33471991|PMID:33534223|PMID:34011629|PMID:34103092|PMID:34326862|PMID:34386569|PMID:34439939|PMID:34754157|PMID:34849607|PMID:35101336|PMID:35171259|PMID:35218119|PMID:35264596|PMID:36072793|PMID:36243179|PMID:36578081|PMID:36977404|PMID:37017260|PMID:37334562|PMID:37377590|PMID:38660671|PMID:38981878|PMID:39130150|PMID:39169716|PMID:39225118|PMID:9428765|PMID:9536098|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318548	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10207048|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11389158|PMID:12112668|PMID:12372054|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15561763|PMID:15608654|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18495044|PMID:18687677|PMID:18846624|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:20497868|PMID:20559149|PMID:21118512|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23430953|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23893923|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24998845|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26225618|PMID:26319365|PMID:26430231|PMID:26467025|PMID:26580448|PMID:26607058|PMID:26898890|PMID:26976419|PMID:26979979|PMID:27060149|PMID:27081308|PMID:27311873|PMID:27467201|PMID:27615706|PMID:27696107|PMID:27821076|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28185117|PMID:28199989|PMID:28492532|PMID:28560011|PMID:28580595|PMID:28724667|PMID:28869103|PMID:28873162|PMID:28944238|PMID:29045518|PMID:29310834|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:30082870|PMID:30092773|PMID:30093976|PMID:30134342|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30528796|PMID:30594553|PMID:30833958|PMID:30850667|PMID:30997075|PMID:31159747|PMID:31217475|PMID:31383922|PMID:31422574|PMID:31469826|PMID:31554794|PMID:31591497|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31871109|PMID:32068069|PMID:32459922|PMID:32462036|PMID:32647375|PMID:32658311|PMID:32957588|PMID:32980694|PMID:33471991|PMID:33534223|PMID:34011629|PMID:34103092|PMID:34326862|PMID:34386569|PMID:34439939|PMID:34754157|PMID:34849607|PMID:35101336|PMID:35171259|PMID:35218119|PMID:35264596|PMID:36072793|PMID:36243179|PMID:36578081|PMID:36977404|PMID:37017260|PMID:37334562|PMID:37377590|PMID:38660671|PMID:38981878|PMID:39130150|PMID:39169716|PMID:39225118|PMID:9428765|PMID:9536098|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007661	Dwarfism		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007692	Insulin Resistance		IEP		D	RGD:1601389|PMID:16352671	20070418	RGD		associated with obesity;protein:decreased expression:gastrocnemius	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9007736	Vertigo		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9008023	Memory Disorders		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9409	diabetes insipidus		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9834	hyperopia		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9970	obesity		IEP		D	RGD:1601389|PMID:16352671	20080407	RGD		protein:decreased expression:gastrocnemius	
1308653	Stk11	serine/threonine kinase 11	gene	DOID:9970	obesity		ISO	RGD:1318548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity disorder	PMID:25741868|PMID:28492532
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:1115	sarcoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:1909	melanoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:3070	high grade glioma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318550	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:9003713	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis		ISO	RGD:1318550	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Corticobasal syndrome	PMID:25741868
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308654	Ttc3	tetratricopeptide repeat domain 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1318550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308655	Lsm5	LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308655	Lsm5	LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1318552	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1308655	Lsm5	LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:1324	lung cancer		ISO	RGD:1318552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308655	Lsm5	LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308655	Lsm5	LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308655	Lsm5	LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308655	Lsm5	LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308657	Thoc1	THO complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308657	Thoc1	THO complex subunit 1	gene	DOID:0070610	autosomal dominant nonsyndromic deafness 86		ISO	RGD:1318555	D	RGD:7240710	20230505	OMIM			
1308657	Thoc1	THO complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308657	Thoc1	THO complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308657	Thoc1	THO complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308657	Thoc1	THO complex subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308657	Thoc1	THO complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308657	Thoc1	THO complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318555	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308657	Thoc1	THO complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308657	Thoc1	THO complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308657	Thoc1	THO complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308658	Pla2g4b	phospholipase A2 group IVB	gene	DOID:9256	colorectal cancer		ISO	RGD:1318557	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: POLE-related polyposis and colorectal cancer syndrome	PMID:28492532
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISS	RGD:1553020	D	RGD:13592920	20180518	MouseDO		OMIM:203300	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0060540	Hermansky-Pudlak syndrome 2		ISO	RGD:1318559	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2	PMID:28492532
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0060540	Hermansky-Pudlak syndrome 2		ISS	RGD:1553020	D	RGD:13592920	20180518	MouseDO		OMIM:608233	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0061300	Hermansky-Pudlak syndrome 10		ISO	RGD:1318559	D	RGD:7240710	20190315	OMIM			
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0061300	Hermansky-Pudlak syndrome 10		ISO	RGD:1318559	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:1115	sarcoma		ISO	RGD:1318559	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:1324	lung cancer		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:1909	melanoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:28492532
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:2223	platelet storage pool deficiency		ISS	RGD:1553020	D	RGD:13592920	20180518	MouseDO		OMIM:185050	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1318559	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:630	genetic disease		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9001386	Albinism		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:25741868
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9003417	Menorrhagia		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Menorrhagia	PMID:28492532
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9008421	Epistaxis		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
1308659	Ap3d1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308660	Gldc	glycine decarboxylase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:0050562	West syndrome		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia | ClinVar Annotator: match by term: Infantile spasms	PMID:10873393|PMID:11286506|PMID:12126939|PMID:15670722|PMID:15791207|PMID:17361008|PMID:20301531|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28492532|PMID:38146699
1308660	Gldc	glycine decarboxylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308660	Gldc	glycine decarboxylase	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Smith-Magenis Syndrome-like	PMID:25741868|PMID:27362913|PMID:27799067|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:0070616	glycine encephalopathy 1		ISO	RGD:1318561	D	RGD:7240710	20230614	OMIM			
1308660	Gldc	glycine decarboxylase	gene	DOID:0070616	glycine encephalopathy 1		ISO	RGD:1318561	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLYCINE ENCEPHALOPATHY 1 | ClinVar Annotator: match by term: Glycine encephalopathy 1	PMID:10873393|PMID:11286506|PMID:12126939|PMID:15670722|PMID:15791207|PMID:15824356|PMID:15851735|PMID:16199547|PMID:16450403|PMID:16601880|PMID:17074608|PMID:17361008|PMID:17576681|PMID:20301531|PMID:20691948|PMID:22171071|PMID:22633639|PMID:23349517|PMID:24123366|PMID:25231368|PMID:25525159|PMID:25741868|PMID:26179960|PMID:26467025|PMID:26749113|PMID:27243974|PMID:27362913|PMID:27535533|PMID:27799067|PMID:27884173|PMID:28116331|PMID:28244183|PMID:28492532|PMID:29153744|PMID:29232014|PMID:31785789|PMID:32421718|PMID:33524012|PMID:33791923|PMID:33977025|PMID:34513771|PMID:38146699|PMID:38589924|PMID:660|PMID:9536098
1308660	Gldc	glycine decarboxylase	gene	DOID:0080074	neural tube defect		ISO	RGD:1623050	D	RGD:12904662|PMID:25736695	20170517	RGD			
1308660	Gldc	glycine decarboxylase	gene	DOID:0080600	COVID-19		ISO	RGD:1318561	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308660	Gldc	glycine decarboxylase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1308660	Gldc	glycine decarboxylase	gene	DOID:10534	stomach cancer		ISO	RGD:1318561	D	RGD:12904663|PMID:26722042	20170517	RGD		mRNA:decreased expression:stomach:	
1308660	Gldc	glycine decarboxylase	gene	DOID:10534	stomach cancer		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308660	Gldc	glycine decarboxylase	gene	DOID:1059	intellectual disability		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26467025|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:10907	microcephaly		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16601880|PMID:25525159|PMID:25741868|PMID:26179960|PMID:26467025|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:10908	hydrocephalus		ISO	RGD:1623050	D	RGD:12904662|PMID:25736695	20170517	RGD			
1308660	Gldc	glycine decarboxylase	gene	DOID:1115	sarcoma		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308660	Gldc	glycine decarboxylase	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Iron deficiency anemia	
1308660	Gldc	glycine decarboxylase	gene	DOID:1324	lung cancer		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308660	Gldc	glycine decarboxylase	gene	DOID:14264	benign neonatal seizures		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:28492532|PMID:38146699
1308660	Gldc	glycine decarboxylase	gene	DOID:1826	epilepsy		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10873393|PMID:11286506|PMID:12126939|PMID:15670722|PMID:15791207|PMID:16601880|PMID:17361008|PMID:20301531|PMID:25525159|PMID:25741868|PMID:26179960|PMID:26467025|PMID:27362913|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized epilepsy	PMID:10873393|PMID:11286506|PMID:12126939|PMID:15670722|PMID:15791207|PMID:17361008|PMID:20301531|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:1969	cerebral palsy		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:16601880|PMID:25525159|PMID:25741868|PMID:26179960|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:2234	focal epilepsy		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:10873393|PMID:11286506|PMID:12126939|PMID:15670722|PMID:15791207|PMID:17361008|PMID:20301531|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:2340	craniosynostosis		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:26467025|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:2394	ovarian cancer		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:26467025|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:3275	thymoma		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308660	Gldc	glycine decarboxylase	gene	DOID:4362	cervical cancer		ISO	RGD:1318561	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:12126939|PMID:25741868|PMID:26467025|PMID:27362913|PMID:27535533|PMID:28492532|PMID:29153744
1308660	Gldc	glycine decarboxylase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308660	Gldc	glycine decarboxylase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318561	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:540	strabismus		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:26467025|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318561	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:630	genetic disease		ISO	RGD:1318561	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16450403|PMID:16601880|PMID:17576681|PMID:25741868|PMID:26179960|PMID:26467025|PMID:27362913|PMID:27884173|PMID:28116331|PMID:28492532|PMID:29232014|PMID:32421718|PMID:33524012|PMID:33791923|PMID:9536098
1308660	Gldc	glycine decarboxylase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:12126939|PMID:25741868|PMID:26467025|PMID:27362913|PMID:27535533|PMID:28492532|PMID:29153744
1308660	Gldc	glycine decarboxylase	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:10873393|PMID:11286506|PMID:12126939|PMID:15670722|PMID:15791207|PMID:17361008|PMID:20301531|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:9003816	Macrocephaly		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1308660	Gldc	glycine decarboxylase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318561	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308660	Gldc	glycine decarboxylase	gene	DOID:9004992	Apnea		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:28492532|PMID:38146699
1308660	Gldc	glycine decarboxylase	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	
1308660	Gldc	glycine decarboxylase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:16450403|PMID:16601880|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1308660	Gldc	glycine decarboxylase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:22171071|PMID:25231368|PMID:25741868|PMID:27799067|PMID:28492532|PMID:29232014|PMID:32421718
1308660	Gldc	glycine decarboxylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10873393|PMID:11286506|PMID:12126939|PMID:15670722|PMID:15791207|PMID:16601880|PMID:17361008|PMID:20301531|PMID:25525159|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1318561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868|PMID:26467025|PMID:28492532
1308660	Gldc	glycine decarboxylase	gene	DOID:9268	glycine encephalopathy		ISO	RGD:1318561	D	RGD:11062733|PMID:15851735	20170517	RGD		DNA:mutation:cds: c.2607C>A(human)	
1308660	Gldc	glycine decarboxylase	gene	DOID:9268	glycine encephalopathy		ISO	RGD:1318561	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16404748|PMID:16450403|PMID:17361008
1308660	Gldc	glycine decarboxylase	gene	DOID:9268	glycine encephalopathy		ISO	RGD:1318561	D	RGD:12904646|PMID:17361008	20170517	RGD		DNA:deletions: :	
1308660	Gldc	glycine decarboxylase	gene	DOID:9268	glycine encephalopathy		ISO	RGD:1318561	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Non-ketotic hyperglycinemia	PMID:10798358|PMID:10873393|PMID:11286506|PMID:11592811|PMID:12126939|PMID:12402263|PMID:15192636|PMID:15236413|PMID:15272469|PMID:15670722|PMID:15791207|PMID:15824356|PMID:15851735|PMID:15864413|PMID:16199547|PMID:1634607|PMID:16404748|PMID:16450403|PMID:16601880|PMID:16802295|PMID:17074608|PMID:17361008|PMID:17576681|PMID:18581728|PMID:19763152|PMID:1996985|PMID:20301531|PMID:20307669|PMID:20691948|PMID:20933183|PMID:21316884|PMID:21411353|PMID:22171071|PMID:22206881|PMID:22406018|PMID:22532538|PMID:22633639|PMID:23349517|PMID:24033266|PMID:24123366|PMID:24407464|PMID:24838951|PMID:25231368|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26179960|PMID:26467025|PMID:26539891|PMID:26749113|PMID:26947380|PMID:26969502|PMID:27362813|PMID:27362913|PMID:273629130|PMID:27535533|PMID:27617160|PMID:27799067|PMID:27884173|PMID:27896094|PMID:28116331|PMID:28244183|PMID:28302194|PMID:28325525|PMID:28416785|PMID:28468868|PMID:28492532|PMID:28733343|PMID:28737873|PMID:29046206|PMID:29153744|PMID:29205322|PMID:29232014|PMID:29239742|PMID:29300369|PMID:29929752|PMID:29988937|PMID:30609409|PMID:31028937|PMID:31319225|PMID:31785789|PMID:32421718|PMID:32593896|PMID:32743799|PMID:33502061|PMID:33524012|PMID:33977025|PMID:34513771|PMID:34587689|PMID:35357708|PMID:35616651|PMID:445864|PMID:660|PMID:80128|PMID:9536098
1308660	Gldc	glycine decarboxylase	gene	DOID:9268	glycine encephalopathy		ISO	RGD:1318561	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glycine encephalopathy | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar Annotator: match by term: Nonketotic hyperglycinemia | ClinVar Annotator: match by term: glycine encephalopathy	PMID:10798358|PMID:10873393|PMID:11286506|PMID:11592811|PMID:12126939|PMID:12402263|PMID:15192636|PMID:15236413|PMID:15272469|PMID:15670722|PMID:15791207|PMID:15824356|PMID:15851735|PMID:15864413|PMID:16199547|PMID:1634607|PMID:16404748|PMID:16450403|PMID:16601880|PMID:16802295|PMID:17074608|PMID:17361008|PMID:17510459|PMID:17576681|PMID:19763152|PMID:1996985|PMID:20301531|PMID:20307669|PMID:20691948|PMID:20933183|PMID:21316884|PMID:21411353|PMID:22171071|PMID:22206881|PMID:22406018|PMID:22532538|PMID:23349517|PMID:24033266|PMID:24123366|PMID:24407464|PMID:24838951|PMID:25231368|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26179960|PMID:26467025|PMID:26539891|PMID:26749113|PMID:26947380|PMID:27243974|PMID:27362813|PMID:27362913|PMID:273629130|PMID:27535533|PMID:27799067|PMID:27884173|PMID:27896094|PMID:28116331|PMID:28244183|PMID:28302194|PMID:28325525|PMID:2841678|PMID:28416785|PMID:28468868|PMID:28492532|PMID:28733343|PMID:28737873|PMID:28759667|PMID:29046206|PMID:29153744|PMID:29205322|PMID:29232014|PMID:29239742|PMID:29300369|PMID:29304759|PMID:29929752|PMID:30049826|PMID:30609409|PMID:31028937|PMID:31319225|PMID:31395954|PMID:31785789|PMID:32421718|PMID:32486599|PMID:32593896|PMID:32743799|PMID:33502061|PMID:33524012|PMID:33791923|PMID:33977025|PMID:34513771|PMID:34587689|PMID:35357708|PMID:35616651|PMID:36471344|PMID:37432431|PMID:37614902|PMID:38146699|PMID:38539105|PMID:38572626|PMID:38589924|PMID:39488673|PMID:39642868|PMID:40717329|PMID:660|PMID:80128|PMID:9536098
1308660	Gldc	glycine decarboxylase	gene	DOID:9268	glycine encephalopathy		ISS	RGD:1623050	D	RGD:13592920	20230718	MouseDO		OMIM:605899	
1308660	Gldc	glycine decarboxylase	gene	DOID:9970	obesity		ISO	RGD:1318561	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:10873393|PMID:11286506|PMID:12126939|PMID:15670722|PMID:15791207|PMID:17361008|PMID:20301531|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28492532
1308662	Arhgap45	Rho GTPase activating protein 45	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308662	Arhgap45	Rho GTPase activating protein 45	gene	DOID:10534	stomach cancer		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308662	Arhgap45	Rho GTPase activating protein 45	gene	DOID:10591	pre-eclampsia		ISO	RGD:1606818	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26095815
1308662	Arhgap45	Rho GTPase activating protein 45	gene	DOID:1115	sarcoma		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308662	Arhgap45	Rho GTPase activating protein 45	gene	DOID:1324	lung cancer		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308662	Arhgap45	Rho GTPase activating protein 45	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1606818	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19096014
1308662	Arhgap45	Rho GTPase activating protein 45	gene	DOID:3275	thymoma		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308662	Arhgap45	Rho GTPase activating protein 45	gene	DOID:4362	cervical cancer		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308662	Arhgap45	Rho GTPase activating protein 45	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606818	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308662	Arhgap45	Rho GTPase activating protein 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308662	Arhgap45	Rho GTPase activating protein 45	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308662	Arhgap45	Rho GTPase activating protein 45	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308664	Cdk2ap1	cyclin-dependent kinase 2 associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308664	Cdk2ap1	cyclin-dependent kinase 2 associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1318567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308664	Cdk2ap1	cyclin-dependent kinase 2 associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308664	Cdk2ap1	cyclin-dependent kinase 2 associated protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1318567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308664	Cdk2ap1	cyclin-dependent kinase 2 associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308664	Cdk2ap1	cyclin-dependent kinase 2 associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:0050562	West syndrome		ISO	RGD:1606330	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: West syndrome	PMID:25741868
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial sleep-related hypermotor epilepsy	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:0060755	familial temporal lobe epilepsy 2		ISO	RGD:1606330	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Familial temporal lobe epilepsy 2	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:0080422	Dravet syndrome		ISO	RGD:1606330	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy	PMID:25741868
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:0081420	familial focal epilepsy with variable foci		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial focal epilepsy with variable foci	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:0081421	familial focal epilepsy with variable foci 1		ISO	RGD:1606330	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:0081421	familial focal epilepsy with variable foci 1		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1	PMID:25741868|PMID:31440721
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:0081423	familial focal epilepsy with variable foci 3		ISO	RGD:1606330	D	RGD:7240710	20190315	OMIM			
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:0081423	familial focal epilepsy with variable foci 3		ISO	RGD:1606330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 | ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 3 | ClinVar Annotator: match by term: NPRL3-related condition	PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26285051|PMID:26505888|PMID:26786403|PMID:27173016|PMID:28492532|PMID:28726809|PMID:30093711|PMID:31440721|PMID:31594065|PMID:31639411|PMID:32086284|PMID:33749980|PMID:36937533|PMID:37491868|PMID:37812946|PMID:37902097|PMID:37946310|PMID:9536098
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1606330	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26285051|PMID:26505888|PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:1115	sarcoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:1324	lung cancer		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	PMID:25741868|PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:1826	epilepsy		ISO	RGD:1606330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:17576681|PMID:25741868|PMID:26285051|PMID:26505888|PMID:28492532|PMID:31594065|PMID:31639411|PMID:32086284|PMID:37946310|PMID:9536098
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:2030	anxiety disorder		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:2234	focal epilepsy		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure | ClinVar Annotator: match by term: partial epilepsy	PMID:25741868|PMID:28492532|PMID:37902097
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:3275	thymoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:480	movement disease		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1606330	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:630	genetic disease		ISO	RGD:1606330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26285051|PMID:26505888|PMID:28492532|PMID:9536098
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:9003539	Hyperacusis		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1606330	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:17576681|PMID:25741868|PMID:26285051|PMID:26505888|PMID:27173016|PMID:28492532|PMID:9536098
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:9007661	Dwarfism		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:9007736	Vertigo		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:9008421	Epistaxis		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1308665	Nprl3	NPR3-like, GATOR1 complex subunit	gene	DOID:9970	obesity		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SIM1-related condition	
1308666	Proz	protein Z, vitamin K-dependent plasma glycoprotein	gene	DOID:0051061	stroke		ISO	RGD:1318570	D	RGD:1580691|PMID:15879328	19990101	RGD			
1308666	Proz	protein Z, vitamin K-dependent plasma glycoprotein	gene	DOID:1247	blood coagulation disease		ISO	RGD:1318570	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROTEIN Z DEFICIENCY | ClinVar Annotator: match by term: Protein Z deficiency	
1308666	Proz	protein Z, vitamin K-dependent plasma glycoprotein	gene	DOID:1247	blood coagulation disease	severity	ISO	RGD:1318571	D	RGD:1580102|PMID:10829076	19990101	RGD			
1308666	Proz	protein Z, vitamin K-dependent plasma glycoprotein	gene	DOID:13241	Behcet's disease		ISO	RGD:1318570	D	RGD:1580692|PMID:14507116	19990101	RGD			
1308666	Proz	protein Z, vitamin K-dependent plasma glycoprotein	gene	DOID:2316	brain ischemia		ISO	RGD:1318570	D	RGD:1358564|PMID:14671240	19990101	RGD			
1308666	Proz	protein Z, vitamin K-dependent plasma glycoprotein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308666	Proz	protein Z, vitamin K-dependent plasma glycoprotein	gene	DOID:4362	cervical cancer		ISO	RGD:1318570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308666	Proz	protein Z, vitamin K-dependent plasma glycoprotein	gene	DOID:9003121	Thromboembolism		ISO	RGD:1318570	D	RGD:1580693|PMID:12970515	19990101	RGD			
1308666	Proz	protein Z, vitamin K-dependent plasma glycoprotein	gene	DOID:9003121	Thromboembolism		ISO	RGD:1318570	D	RGD:1580720|PMID:12297123	20110706	RGD		protein:decreased expression:plasma	
1308666	Proz	protein Z, vitamin K-dependent plasma glycoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308667	Fbln1	fibulin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308667	Fbln1	fibulin 1	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1318572	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:25741868|PMID:28492532|PMID:31680123
1308667	Fbln1	fibulin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308667	Fbln1	fibulin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308667	Fbln1	fibulin 1	gene	DOID:1115	sarcoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308667	Fbln1	fibulin 1	gene	DOID:1324	lung cancer		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308667	Fbln1	fibulin 1	gene	DOID:289	endometriosis		ISO	RGD:1318572	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1308667	Fbln1	fibulin 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308667	Fbln1	fibulin 1	gene	DOID:3275	thymoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308667	Fbln1	fibulin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308667	Fbln1	fibulin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308667	Fbln1	fibulin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308667	Fbln1	fibulin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308667	Fbln1	fibulin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308667	Fbln1	fibulin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1308667	Fbln1	fibulin 1	gene	DOID:9001994	Synpolydactyly 2		ISO	RGD:1318572	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: FBLN1-related condition	PMID:25741868|PMID:28492532
1308667	Fbln1	fibulin 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318572	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17929269
1308667	Fbln1	fibulin 1	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868
1308667	Fbln1	fibulin 1	gene	DOID:9004662	Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects		ISO	RGD:1318572	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects	
1308667	Fbln1	fibulin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308667	Fbln1	fibulin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308668	Lingo1	leucine rich repeat and Ig domain containing 1	gene	DOID:0081225	autosomal recessive intellectual developmental disorder 64		ISO	RGD:1318574	D	RGD:7240710	20190315	OMIM			
1308668	Lingo1	leucine rich repeat and Ig domain containing 1	gene	DOID:0081225	autosomal recessive intellectual developmental disorder 64		ISO	RGD:1318574	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 64 | ClinVar Annotator: match by term: LINGO1-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 64	PMID:25741868|PMID:28492532
1308668	Lingo1	leucine rich repeat and Ig domain containing 1	gene	DOID:1686	glaucoma	treatment	ISO	RGD:1318574	D	RGD:8655601|PMID:19422885	20140519	RGD			
1308668	Lingo1	leucine rich repeat and Ig domain containing 1	gene	DOID:1826	epilepsy		ISO	RGD:1318574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1308668	Lingo1	leucine rich repeat and Ig domain containing 1	gene	DOID:4990	essential tremor		ISO	RGD:1318574	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:19182806
1308668	Lingo1	leucine rich repeat and Ig domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308668	Lingo1	leucine rich repeat and Ig domain containing 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1308669	Foxp1	forkhead box P1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308669	Foxp1	forkhead box P1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318576	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21572417
1308669	Foxp1	forkhead box P1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318576	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:0070309	absence epilepsy		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1318576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:28492532|PMID:31474318
1308669	Foxp1	forkhead box P1	gene	DOID:0080016	spina bifida		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida	PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1318576	D	RGD:11560525|PMID:22759905	20161109	RGD		protein:altered expression:neocortex (human)	
1308669	Foxp1	forkhead box P1	gene	DOID:0110106	atrial heart septal defect 1		ISO	RGD:1318576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial septal defect 1	PMID:25741868|PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:0111331	intellectual disability-severe speech delay-mild dysmorphism syndrome		ISO	RGD:1318576	D	RGD:7240710	20130221	OMIM			
1308669	Foxp1	forkhead box P1	gene	DOID:0111331	intellectual disability-severe speech delay-mild dysmorphism syndrome		ISO	RGD:1318576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FOXP1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment AND with or without autistic features | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES | ClinVar Annotator: match by term: Mental retardation with language impairment and autistic features | ClinVar Annotator: match by term: intellectual disability-severe speech delay-mild dysmorphism syndrome	PMID:16199547|PMID:17576681|PMID:19352412|PMID:20848658|PMID:20950788|PMID:25131622|PMID:25363768|PMID:25741868|PMID:25767709|PMID:26647308|PMID:27657687|PMID:27824329|PMID:28492532|PMID:28735298|PMID:29090079|PMID:29330474|PMID:30564305|PMID:31199603|PMID:31474318|PMID:33057194|PMID:33590427|PMID:34109629|PMID:34588003|PMID:35322241|PMID:35982159|PMID:36619507|PMID:36801247|PMID:36987741|PMID:37733892|PMID:38843839|PMID:38958063|PMID:40473777|PMID:9536098
1308669	Foxp1	forkhead box P1	gene	DOID:10376	amblyopia		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:1059	intellectual disability		ISO	RGD:1318576	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:26633542|PMID:26647308|PMID:28492532|PMID:28714951|PMID:28735298|PMID:28741757|PMID:31618753|PMID:34109629|PMID:34588003|PMID:38891897
1308669	Foxp1	forkhead box P1	gene	DOID:1059	intellectual disability		ISO	RGD:1318576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:26647308|PMID:28492532|PMID:28735298
1308669	Foxp1	forkhead box P1	gene	DOID:10754	otitis media		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868|PMID:26647308|PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:10907	microcephaly		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308669	Foxp1	forkhead box P1	gene	DOID:11111	hydronephrosis		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:1115	sarcoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:11383	cryptorchidism		ISO	RGD:1318576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:16199547|PMID:25741868|PMID:28492532|PMID:28735298|PMID:38958063
1308669	Foxp1	forkhead box P1	gene	DOID:12306	vitiligo		ISO	RGD:1318576	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20526340
1308669	Foxp1	forkhead box P1	gene	DOID:1255	trichostrongyloidiasis		IEP		D	RGD:11561920|PMID:21698235	20161111	RGD		mRNA:increased expression:duodenum (rat)	
1308669	Foxp1	forkhead box P1	gene	DOID:1283	enterocele		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	
1308669	Foxp1	forkhead box P1	gene	DOID:12849	autistic disorder		ISO	RGD:1318576	D	RGD:11554173	20221101	CTD		CTD Direct Evidence: marker/mechanism	PMID:35982159
1308669	Foxp1	forkhead box P1	gene	DOID:12849	autistic disorder		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:28735298
1308669	Foxp1	forkhead box P1	gene	DOID:12858	Huntington's disease		ISO	RGD:1318576	D	RGD:11560524|PMID:16405510	20161109	RGD		mRNA:decreased expression:caudate nucleus (human)	
1308669	Foxp1	forkhead box P1	gene	DOID:12858	Huntington's disease		ISO	RGD:1318577	D	RGD:11560524|PMID:16405510	20161109	RGD		mRNA:decreased expression:striatum (mouse)	
1308669	Foxp1	forkhead box P1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:1324	lung cancer		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308669	Foxp1	forkhead box P1	gene	DOID:1555	urticaria		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urticaria	PMID:25741868|PMID:26647308
1308669	Foxp1	forkhead box P1	gene	DOID:1682	congenital heart disease		ISO	RGD:1318576	D	RGD:11071913|PMID:23766104	20161109	RGD		DNA:missense mutation, deletion:cds, exons:p.P568S (human)	
1308669	Foxp1	forkhead box P1	gene	DOID:1682	congenital heart disease		ISO	RGD:1318576	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:25741868|PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1318576	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25485836
1308669	Foxp1	forkhead box P1	gene	DOID:18	urinary system disease		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the urinary system	PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:1826	epilepsy		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:1909	melanoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308669	Foxp1	forkhead box P1	gene	DOID:1923	disorder of sexual development		ISO	RGD:1318576	D	RGD:8554872	20210907	ClinVar		ClinVar Annotator: match by term: Disorder of sexual differentiation	
1308669	Foxp1	forkhead box P1	gene	DOID:1969	cerebral palsy		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:2030	anxiety disorder		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1308669	Foxp1	forkhead box P1	gene	DOID:2234	focal epilepsy		ISO	RGD:1318576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: focal epilepsy	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:255	hemangioma		ISO	RGD:1318576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glabellar hemangioma | ClinVar Annotator: match by term: Hemangioma	PMID:25741868|PMID:34109629|PMID:34588003
1308669	Foxp1	forkhead box P1	gene	DOID:2841	asthma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:327	syringomyelia		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syringomyelia	PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:3275	thymoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308669	Foxp1	forkhead box P1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308669	Foxp1	forkhead box P1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1318576	D	RGD:153350086|PMID:22491060	20220906	RGD		mRNA:decreased expression:lung (human)	
1308669	Foxp1	forkhead box P1	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1318576	D	RGD:626469552|PMID:35693292	20250915	RGD		mRNA:decreased expression:lung	
1308669	Foxp1	forkhead box P1	gene	DOID:3910	lung adenocarcinoma		IEP		D	RGD:11561933|PMID:16023287	20161111	RGD		mRNA:decreased expression:lung (rat)	
1308669	Foxp1	forkhead box P1	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:1318576	D	RGD:11535321|PMID:26383589	20161109	RGD		DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human)	
1308669	Foxp1	forkhead box P1	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:1318576	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121790
1308669	Foxp1	forkhead box P1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318576	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308669	Foxp1	forkhead box P1	gene	DOID:535	sleep disorder		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:540	strabismus		ISO	RGD:1318576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:34109629|PMID:34588003
1308669	Foxp1	forkhead box P1	gene	DOID:5419	schizophrenia		ISO	RGD:1318576	D	RGD:11353286|PMID:26460480	20161110	RGD		DNA:snp:intron:g.71205600C>T (rsrs7372960) (human)	
1308669	Foxp1	forkhead box P1	gene	DOID:552	pneumonia		ISO	RGD:1318576	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:34109629|PMID:34588003
1308669	Foxp1	forkhead box P1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308669	Foxp1	forkhead box P1	gene	DOID:5723	optic atrophy		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308669	Foxp1	forkhead box P1	gene	DOID:6000	congestive heart failure		ISO	RGD:1318576	D	RGD:1582564|PMID:16952980	20061113	RGD			
1308669	Foxp1	forkhead box P1	gene	DOID:630	genetic disease		ISO	RGD:1318576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:20848658|PMID:20950788|PMID:25741868|PMID:26647308|PMID:28492532|PMID:28735298|PMID:29090079|PMID:31474318|PMID:34588003|PMID:35982159|PMID:38843839|PMID:38958063
1308669	Foxp1	forkhead box P1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1318576	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1308669	Foxp1	forkhead box P1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308669	Foxp1	forkhead box P1	gene	DOID:684	hepatocellular carcinoma	treatment	IEP		D	RGD:9587823|PMID:25156538	20161111	RGD			
1308669	Foxp1	forkhead box P1	gene	DOID:8283	peritonitis		ISO	RGD:1318576	D	RGD:11561898|PMID:18799727	20161110	RGD		human gene in a mouse model	
1308669	Foxp1	forkhead box P1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1318576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532|PMID:34109629|PMID:34588003
1308669	Foxp1	forkhead box P1	gene	DOID:9000052	Breech Presentation		ISO	RGD:1318576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breech presentation	PMID:34109629|PMID:34588003
1308669	Foxp1	forkhead box P1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1318576	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25485836
1308669	Foxp1	forkhead box P1	gene	DOID:9000998	Brain Injuries	treatment	IDA		D	RGD:11561903|PMID:26842647	20161110	RGD			
1308669	Foxp1	forkhead box P1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:26647308
1308669	Foxp1	forkhead box P1	gene	DOID:9002079	Paresis		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:9002569	Overweight		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:9003132	Sialorrhea		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:28492532|PMID:28735298
1308669	Foxp1	forkhead box P1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:28492532|PMID:28735298
1308669	Foxp1	forkhead box P1	gene	DOID:9003507	Premature Birth		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:26647308|PMID:28492532|PMID:28735298
1308669	Foxp1	forkhead box P1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318576	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1308669	Foxp1	forkhead box P1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318576	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1318576	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25485836
1308669	Foxp1	forkhead box P1	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:26647308|PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:25741868|PMID:26647308|PMID:28492532|PMID:28735298|PMID:34109629|PMID:34588003|PMID:38958063
1308669	Foxp1	forkhead box P1	gene	DOID:9005616	Micrognathism		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:9007661	Dwarfism		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26647308
1308669	Foxp1	forkhead box P1	gene	DOID:9007892	Tics		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	PMID:25741868|PMID:26647308|PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: global developmental delay	PMID:16199547|PMID:25741868|PMID:28492532|PMID:28735298|PMID:38958063
1308669	Foxp1	forkhead box P1	gene	DOID:9008237	Hemimegalencephaly		ISO	RGD:1318576	D	RGD:11560525|PMID:22759905	20161109	RGD		protein:altered expression:neocortex (human)	
1308669	Foxp1	forkhead box P1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1318576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308669	Foxp1	forkhead box P1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28492532
1308669	Foxp1	forkhead box P1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1318576	D	RGD:11560527|PMID:25447851	20161109	RGD		DNA:snp:enhancer:g.70879779A>C (rs2687201) (human)	
1308669	Foxp1	forkhead box P1	gene	DOID:93	language disorder		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:9574	choanal atresia		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Choanal atresia	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1308669	Foxp1	forkhead box P1	gene	DOID:9834	hyperopia		ISO	RGD:1318576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:34109629|PMID:34588003
1308669	Foxp1	forkhead box P1	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1318576	D	RGD:11561899|PMID:18344372	20161110	RGD		mRNA:decreased expression:interatrial septum (human)	
1308670	Fkbp8	FKBP prolyl isomerase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308670	Fkbp8	FKBP prolyl isomerase 8	gene	DOID:0080016	spina bifida		ISS	RGD:1318579	D	RGD:13592920	20220113	MouseDO			
1308670	Fkbp8	FKBP prolyl isomerase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1318578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308670	Fkbp8	FKBP prolyl isomerase 8	gene	DOID:11836	clubfoot		ISS	RGD:1318579	D	RGD:13592920	20180518	MouseDO		OMIM:119800	
1308670	Fkbp8	FKBP prolyl isomerase 8	gene	DOID:1324	lung cancer		ISO	RGD:1318578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308670	Fkbp8	FKBP prolyl isomerase 8	gene	DOID:4362	cervical cancer		ISO	RGD:1318578	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308670	Fkbp8	FKBP prolyl isomerase 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1318578	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308670	Fkbp8	FKBP prolyl isomerase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308670	Fkbp8	FKBP prolyl isomerase 8	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1318578	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0050908	myelodysplastic syndrome	susceptibility	ISO	RGD:1318580	D	RGD:11075096|PMID:18774170	20160829	RGD		DNA:polymorphism: :66A>G(human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0060060	non-Hodgkin lymphoma	susceptibility	ISO	RGD:1318580	D	RGD:11531140|PMID:15159311	20160829	RGD		DNA:polymorphism: :66A>G(human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0060668	anencephaly	susceptibility	ISO	RGD:1318580	D	RGD:11098877|PMID:26045171	20170712	RGD		DNA:point mutation:intron:c.-26+755C>A (rs326119) (human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0080016	spina bifida		ISO	RGD:1318580	D	RGD:1302512|PMID:12375236	20111007	RGD		DNA:polymorphism: :66A>G(human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0080016	spina bifida	susceptibility	ISO	RGD:1318580	D	RGD:5508199|PMID:12590188	20111007	RGD		DNA:polymorphism: :66A>G(human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0081337	congenital myopathy		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0112255	homocystinuria-megaloblastic anemia cblE type		ISO	RGD:1318580	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0112255	homocystinuria-megaloblastic anemia cblE type		ISO	RGD:1318580	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CblE complementation type homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism | ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE | ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE TYPE | ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE	PMID:10484769|PMID:12555939|PMID:12971424|PMID:15714522|PMID:16199547|PMID:17576681|PMID:20120036|PMID:22887477|PMID:24033266|PMID:25227144|PMID:25526710|PMID:25741868|PMID:25978498|PMID:28492532|PMID:28518168|PMID:30041674|PMID:30466947|PMID:31063268|PMID:32461654|PMID:33980297|PMID:38736634|PMID:9536098
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0112255	homocystinuria-megaloblastic anemia cblE type	susceptibility	ISO	RGD:1318580	D	RGD:7240710	20260805	OMIM			
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1115	sarcoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:114	heart disease		ISO	RGD:1318580	D	RGD:1581051|PMID:15612980	19990101	RGD			
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:12336	male infertility		ISO	RGD:1318580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16861746
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1318580	D	RGD:5508183|PMID:21070756	20111006	RGD		DNA:polymorphism: :1049A>G (human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1681	heart septal defect		ISO	RGD:1318580	D	RGD:7244247|PMID:22179537	20130529	RGD		DNA:SNP:intron:rs326119(human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1318580	D	RGD:2317118|PMID:18843018	20100609	RGD		DNA:polymorphism: :66A>G (human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:1318580	D	RGD:2325772|PMID:18515090	20100609	RGD		DNA:SNPs:intron, exon:rs162049, p.H595Y (rs10380) (human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1909	melanoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:3565	meningioma	susceptibility	ISO	RGD:1318580	D	RGD:5508186|PMID:18483342	20111006	RGD		DNA:SNP: :66A>G, (rs1801394) (human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:4362	cervical cancer		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318580	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:630	genetic disease		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1318580	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism	PMID:15292234|PMID:15494741|PMID:25227144|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:657	adenoma		ISO	RGD:1318580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17389618
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1318580	D	RGD:14696707|PMID:19035314	20190716	RGD		DNA:SNP: :66A>G(human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:7693	abdominal aortic aneurysm	susceptibility	ISO	RGD:1318580	D	RGD:329853746|PMID:18635682	20230829	RGD		DNA:SNP: (rs326118) (human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:8577	ulcerative colitis	susceptibility	ISO	RGD:1318580	D	RGD:5508217|PMID:21947961	20111011	RGD		DNA:polymorphism: :66A>G (human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:863	nervous system disease		ISO	RGD:1318580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects		ISO	RGD:1318580	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects		ISO	RGD:1318580	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neural tube defects, folate-sensitive	PMID:15714522|PMID:25526710|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654|PMID:33042249
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects	susceptibility	ISO	RGD:1318580	D	RGD:7240710	20260805	OMIM			
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1318580	D	RGD:6893652|PMID:18774994	20130603	RGD		Associated with Diabetes Mellitus, Type 1;DNA:SNP:cds:66A>G, (rs1801394) (human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9006281	Temporomandibular Joint Disorders	susceptibility	ISO	RGD:1318580	D	RGD:5490535|PMID:21615938	20110916	RGD		DNA:polymorphism:cds:p.I22M (rs1801394)(human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1318580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16985020|PMID:17389618
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:1318580	D	RGD:11075096|PMID:18774170	20160829	RGD		DNA:polymorphism: :66A>G(human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318580	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:25227144|PMID:25741868|PMID:28492532
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9263	homocystinuria		ISO	RGD:1318580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12555939|PMID:15714522
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9263	homocystinuria		ISO	RGD:1318580	D	RGD:5508189|PMID:15714522	20111006	RGD		DNA:polymorphisms,mutations: :	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:1318580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16575899|PMID:17369066
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9538	multiple myeloma	susceptibility	ISO	RGD:1318580	D	RGD:11075095|PMID:17655928	20160829	RGD		DNA:polymorphism: :66G>A(human)	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1318580	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:17136115
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:1318580	D	RGD:11531133|PMID:17136115	20160829	RGD		DNA:haplotype:cds:	
1308671	Mtrr	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:1318580	D	RGD:11531135|PMID:23940529	20160829	RGD		DNA:SNP: :rs3776455(human)	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:1115	sarcoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:1324	lung cancer		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:3275	thymoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1318583	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308673	Papola	poly (A) polymerase alpha	gene	DOID:9256	colorectal cancer		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308676	Hsd3b1	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347893	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308676	Hsd3b1	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1318588	D	RGD:4889108|PMID:18180323	20101124	RGD		mRNA:altered expression:cerebellum, hippocampus (human)	
1308676	Hsd3b1	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	gene	DOID:10763	hypertension		IEP		D	RGD:4761326|PMID:19228890	20101117	RGD		mRNA:decreased expression:ovary (rat)	
1308676	Hsd3b1	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1347893	D	RGD:1626438|PMID:12054649	20180314	RGD		DNA:polymorphism:exon	
1308676	Hsd3b1	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	gene	DOID:10892	hypospadias		ISO	RGD:1318588	D	RGD:1625114|PMID:14764821	20070522	RGD		DNA:point mutation:CDS:heterozygous S213T or S284R, result in decreased enzyme activity	
1308676	Hsd3b1	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	gene	DOID:11446	sciatic neuropathy		IEP		D	RGD:632873|PMID:12648755	20101206	RGD		mRNA:increased expression:fourth lumbar dorsal root ganglion (rat)	
1308676	Hsd3b1	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	gene	DOID:11612	polycystic ovary syndrome		IEP		D	RGD:4145934|PMID:19698287	20101222	RGD		protein:increased expression:ovary (rat)	
1308676	Hsd3b1	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1318588	D	RGD:4888511|PMID:11739466	20101119	RGD		protein:increased activity:ovary follicle, theca cell (human)	
1308676	Hsd3b1	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1347893	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22381227
1308676	Hsd3b1	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	gene	DOID:12700	hyperprolactinemia		IEP		D	RGD:4889596|PMID:2149342	20101207	RGD		mRNA:increased expression:ovary (rat)	
1308676	Hsd3b1	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	gene	DOID:1459	hypothyroidism		IEP		D	RGD:4889527|PMID:17244746	20101203	RGD		mRNA:increased expression:corpus luteum (rat)	
1308676	Hsd3b1	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	gene	DOID:1924	hypogonadism		IEP		D	RGD:4833436|PMID:17880366	20101118	RGD		mRNA:decreased expression:testis (rat)	
1308676	Hsd3b1	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347893	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17826523
1308676	Hsd3b1	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	gene	DOID:9352	type 2 diabetes mellitus		IEP		D	RGD:4889107|PMID:18481435	20101124	RGD		mRNA:decreased expression:testis, Leydig cell (rat)	
1308677	Hykk	hydroxylysine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308677	Hykk	hydroxylysine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308677	Hykk	hydroxylysine kinase	gene	DOID:1909	melanoma		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308677	Hykk	hydroxylysine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606741	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308677	Hykk	hydroxylysine kinase	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1606741	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease	
1308677	Hykk	hydroxylysine kinase	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1606741	D	RGD:632518348|PMID:23299987	20260205	RGD		DNA: SNP: :rs8034191	
1308677	Hykk	hydroxylysine kinase	gene	DOID:3275	thymoma		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308677	Hykk	hydroxylysine kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308677	Hykk	hydroxylysine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1606741	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308677	Hykk	hydroxylysine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308677	Hykk	hydroxylysine kinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606741	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308677	Hykk	hydroxylysine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308677	Hykk	hydroxylysine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308677	Hykk	hydroxylysine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308678	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308678	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1318591	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
1308678	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1318591	D	RGD:7240710	20210922	OMIM			
1308678	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1318591	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 57 | ClinVar Annotator: match by term: Spermatogenic failure 57	PMID:25741868|PMID:34347949
1308678	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:12336	male infertility		ISO	RGD:1318591	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
1308678	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308678	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318591	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308678	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308678	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308678	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308678	Pnldc1	PARN like ribonuclease domain containing exonuclease 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308679	Ssh3	slingshot protein phosphatase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1318592	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Intellectual disability syndrome	
1308679	Ssh3	slingshot protein phosphatase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308679	Ssh3	slingshot protein phosphatase 3	gene	DOID:1115	sarcoma		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308679	Ssh3	slingshot protein phosphatase 3	gene	DOID:1324	lung cancer		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308679	Ssh3	slingshot protein phosphatase 3	gene	DOID:1909	melanoma		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308679	Ssh3	slingshot protein phosphatase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308679	Ssh3	slingshot protein phosphatase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318592	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308679	Ssh3	slingshot protein phosphatase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308679	Ssh3	slingshot protein phosphatase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308679	Ssh3	slingshot protein phosphatase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308679	Ssh3	slingshot protein phosphatase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308679	Ssh3	slingshot protein phosphatase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308679	Ssh3	slingshot protein phosphatase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308681	Rpl11	ribosomal protein L11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308681	Rpl11	ribosomal protein L11	gene	DOID:0060058	lymphoma	susceptibility	ISO	RGD:1318595	D	RGD:11535971|PMID:26489471	20160926	RGD			
1308681	Rpl11	ribosomal protein L11	gene	DOID:0111878	Diamond-Blackfan anemia 7		ISO	RGD:1318594	D	RGD:11535122|PMID:19191325	20160926	RGD		DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)	
1308681	Rpl11	ribosomal protein L11	gene	DOID:0111878	Diamond-Blackfan anemia 7		ISO	RGD:1318594	D	RGD:11535130|PMID:20378560	20160926	RGD		DNA:deletions:exons:g.58_59delCT, g.460delA (human)	
1308681	Rpl11	ribosomal protein L11	gene	DOID:0111878	Diamond-Blackfan anemia 7		ISO	RGD:1318594	D	RGD:11535132|PMID:19773262	20160926	RGD		DNA:deletions, snp:exons, introns:multiple (human)	
1308681	Rpl11	ribosomal protein L11	gene	DOID:0111878	Diamond-Blackfan anemia 7		ISO	RGD:1318594	D	RGD:11535967|PMID:19061985	20160926	RGD		DNA:mutations:multiple (human)	
1308681	Rpl11	ribosomal protein L11	gene	DOID:0111878	Diamond-Blackfan anemia 7		ISO	RGD:1318594	D	RGD:11535969|PMID:25946618	20160926	RGD		DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human)	
1308681	Rpl11	ribosomal protein L11	gene	DOID:0111878	Diamond-Blackfan anemia 7		ISO	RGD:1318594	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308681	Rpl11	ribosomal protein L11	gene	DOID:0111878	Diamond-Blackfan anemia 7		ISO	RGD:1318594	D	RGD:7240710	20130731	OMIM			
1308681	Rpl11	ribosomal protein L11	gene	DOID:0111878	Diamond-Blackfan anemia 7		ISO	RGD:1318594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 7 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 7	PMID:16199547|PMID:17576681|PMID:19061985|PMID:19191325|PMID:19773262|PMID:25741868|PMID:28492532|PMID:30503522|PMID:31131953|PMID:34110484|PMID:9536098
1308681	Rpl11	ribosomal protein L11	gene	DOID:0111878	Diamond-Blackfan anemia 7		ISO	RGD:1318595	D	RGD:11535971|PMID:26489471	20160926	RGD			
1308681	Rpl11	ribosomal protein L11	gene	DOID:0111878	Diamond-Blackfan anemia 7		ISS	RGD:1318595	D	RGD:13592920	20230718	MouseDO		OMIM:612562	
1308681	Rpl11	ribosomal protein L11	gene	DOID:10534	stomach cancer		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308681	Rpl11	ribosomal protein L11	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:16199547|PMID:17576681|PMID:19061985|PMID:19773262|PMID:20960466|PMID:22689679|PMID:23718193|PMID:25741868|PMID:26136524|PMID:26185635|PMID:28492532|PMID:30503522|PMID:31131953|PMID:31855845|PMID:33718801|PMID:34110484|PMID:9536098
1308681	Rpl11	ribosomal protein L11	gene	DOID:1340	pure red-cell aplasia		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pure red-cell aplasia	PMID:19061985|PMID:19191325|PMID:19773262|PMID:25741868|PMID:28492532
1308681	Rpl11	ribosomal protein L11	gene	DOID:1342	congenital hypoplastic anemia		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypoplastic anemia	PMID:19061985|PMID:19773262|PMID:25741868|PMID:28492532
1308681	Rpl11	ribosomal protein L11	gene	DOID:2355	anemia		ISO	RGD:1318594	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:32581362
1308681	Rpl11	ribosomal protein L11	gene	DOID:2361	macrocytic anemia		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocytic anemia	PMID:19061985|PMID:19773262|PMID:25741868|PMID:28492532
1308681	Rpl11	ribosomal protein L11	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1318594	D	RGD:11535972|PMID:23377281	20160926	RGD		DNA:missense mutation, frameshift mutation:p.R18P, p.G30fs (human)	
1308681	Rpl11	ribosomal protein L11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308681	Rpl11	ribosomal protein L11	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318594	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
1308681	Rpl11	ribosomal protein L11	gene	DOID:9003507	Premature Birth		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:19061985|PMID:19773262|PMID:25741868|PMID:28492532
1308681	Rpl11	ribosomal protein L11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308681	Rpl11	ribosomal protein L11	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:19061985|PMID:19773262|PMID:25741868|PMID:28492532
1308681	Rpl11	ribosomal protein L11	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	
1308681	Rpl11	ribosomal protein L11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308681	Rpl11	ribosomal protein L11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1318596	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:18616530|PMID:19187973|PMID:21917145|PMID:24033266
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1318596	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness	PMID:16134132|PMID:16287143|PMID:18616530|PMID:19187973|PMID:23767834|PMID:24033266|PMID:24416283|PMID:25741868|PMID:26467025|PMID:26879195|PMID:26969326|PMID:28492532|PMID:28501645|PMID:29654653|PMID:30303587|PMID:33524517|PMID:34416374|PMID:34523024|PMID:36597107
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1318596	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness	PMID:16287143|PMID:25741868|PMID:26969326|PMID:28492532|PMID:29654653|PMID:34416374|PMID:36597107
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1318596	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:11850618|PMID:16199547|PMID:17877751|PMID:18414213|PMID:18616530|PMID:19187973|PMID:20373850|PMID:21250555|PMID:22105175|PMID:22607986|PMID:23767834|PMID:24033266|PMID:24949729|PMID:25074487|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:31028865|PMID:31379920|PMID:31541171|PMID:31854501|PMID:32747562|PMID:34523024
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:24033266
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0110520	autosomal recessive nonsyndromic deafness 7		ISO	RGD:1318596	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0110520	autosomal recessive nonsyndromic deafness 7		ISO	RGD:1318596	D	RGD:7240710	20140730	OMIM			
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0110520	autosomal recessive nonsyndromic deafness 7		ISO	RGD:1318596	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11	PMID:11850618|PMID:15605408|PMID:16134132|PMID:16199547|PMID:16287143|PMID:17576681|PMID:17877751|PMID:18259073|PMID:18414213|PMID:18616530|PMID:19187973|PMID:20373850|PMID:21117948|PMID:21250555|PMID:21252500|PMID:21917145|PMID:22105175|PMID:22607986|PMID:23208854|PMID:23767834|PMID:23804846|PMID:24033266|PMID:24416283|PMID:24498627|PMID:24875298|PMID:24933710|PMID:24949729|PMID:25074487|PMID:25423259|PMID:25491636|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26561413|PMID:26879195|PMID:26969326|PMID:27068579|PMID:28000701|PMID:28492532|PMID:28501645|PMID:29178603|PMID:29533536|PMID:29654653|PMID:30303587|PMID:30311386|PMID:30896630|PMID:31028865|PMID:31541171|PMID:31814694|PMID:31854501|PMID:32747562|PMID:32860223|PMID:33095980|PMID:33111345|PMID:33168709|PMID:33524517|PMID:33724713|PMID:34416374|PMID:34523024|PMID:34857896|PMID:35407445|PMID:36515421|PMID:36597107|PMID:9536098
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0110520	autosomal recessive nonsyndromic deafness 7		ISO	RGD:1318596	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 7	PMID:11850618|PMID:16134132|PMID:16199547|PMID:16287143|PMID:18616530|PMID:21250555|PMID:21917145|PMID:22105175|PMID:22607986|PMID:23767834|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26561413|PMID:27838790|PMID:28000701|PMID:28492532|PMID:29533536|PMID:30311386|PMID:30896630|PMID:31028865|PMID:31176026|PMID:31541171|PMID:33095980|PMID:33111345|PMID:33352559|PMID:33423255|PMID:33724713|PMID:34523024
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0110520	autosomal recessive nonsyndromic deafness 7		ISS	RGD:1551056	D	RGD:13592920	20230718	MouseDO		OMIM:600974	
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0110563	autosomal dominant nonsyndromic deafness 36		ISO	RGD:1318596	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0110563	autosomal dominant nonsyndromic deafness 36		ISO	RGD:1318596	D	RGD:7240710	20140730	OMIM			
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0110563	autosomal dominant nonsyndromic deafness 36		ISO	RGD:1318596	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 36 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 36 | ClinVar Annotator: match by term: TMC1-related condition	PMID:11850618|PMID:15354000|PMID:16134132|PMID:16199547|PMID:16287143|PMID:17250663|PMID:17877751|PMID:18414213|PMID:18616530|PMID:19180119|PMID:19187973|PMID:20373850|PMID:21250555|PMID:21917145|PMID:22105175|PMID:22607986|PMID:23767834|PMID:23804846|PMID:24033266|PMID:24949729|PMID:25074487|PMID:25388789|PMID:25741868|PMID:26011067|PMID:26467025|PMID:26561413|PMID:26969326|PMID:27838790|PMID:28492532|PMID:28501645|PMID:29178603|PMID:29196752|PMID:29533536|PMID:29654653|PMID:30311386|PMID:30896630|PMID:31028865|PMID:31176026|PMID:31541171|PMID:31854501|PMID:32747562|PMID:33095980|PMID:33111345|PMID:33352559|PMID:33423255|PMID:33524517|PMID:33724713|PMID:34416374|PMID:34523024|PMID:34593925|PMID:34857896|PMID:36515421|PMID:36597107|PMID:38066485
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0110563	autosomal dominant nonsyndromic deafness 36		ISS	RGD:1551056	D	RGD:13592920	20230718	MouseDO		OMIM:606705	
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:0110909	inflammatory bowel disease 25		ISO	RGD:1318596	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease 25, early onset, autosomal recessive	PMID:25741868|PMID:26011067|PMID:28492532
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318596	D	RGD:1599440|PMID:11850618	20070205	RGD		DFNA36, OMIM:606705, DFNB7, OMIM:600974	
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318596	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:24033266|PMID:25741868|PMID:30311386|PMID:40377830
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:24033266
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:1826	epilepsy		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24033266
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24033266
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:24033266
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:480	movement disease		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:24033266
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318596	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:630	genetic disease		ISO	RGD:1318596	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:630	genetic disease		ISO	RGD:1318596	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11850623|PMID:23871232|PMID:24033266|PMID:24827932|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36515421
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24033266
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:24033266
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318596	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:11850618|PMID:15354000|PMID:16199547|PMID:16287143|PMID:17250663|PMID:17877751|PMID:18414213|PMID:18616530|PMID:19180119|PMID:19187973|PMID:20373850|PMID:21250555|PMID:22105175|PMID:22607986|PMID:23767834|PMID:24033266|PMID:24949729|PMID:25074487|PMID:25388789|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:31028865|PMID:31379920|PMID:31541171|PMID:31854501|PMID:32747562|PMID:34523024
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:9008681	Deafness		ISO	RGD:1318596	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:11850618|PMID:16199547|PMID:22105175|PMID:25741868|PMID:28492532|PMID:30303587|PMID:31379920
1308682	Tmc1	transmembrane channel-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1308683	Mnt	MAX network transcriptional repressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308683	Mnt	MAX network transcriptional repressor	gene	DOID:0060469	Miller-Dieker lissencephaly syndrome		ISS	RGD:1318598	D	RGD:13592920	20180518	MouseDO		OMIM:247200	
1308683	Mnt	MAX network transcriptional repressor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308683	Mnt	MAX network transcriptional repressor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308683	Mnt	MAX network transcriptional repressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308683	Mnt	MAX network transcriptional repressor	gene	DOID:674	cleft palate		ISO	RGD:1318597	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15028671
1308683	Mnt	MAX network transcriptional repressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308683	Mnt	MAX network transcriptional repressor	gene	DOID:9008500	Classical Lissencephalies and Subcortical Band Heterotopias		ISO	RGD:1318597	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15028671
1308683	Mnt	MAX network transcriptional repressor	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1318597	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15028671
1308684	Ccdc102a	coiled-coil domain containing 102A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308684	Ccdc102a	coiled-coil domain containing 102A	gene	DOID:1324	lung cancer		ISO	RGD:1605307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308684	Ccdc102a	coiled-coil domain containing 102A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308684	Ccdc102a	coiled-coil domain containing 102A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308684	Ccdc102a	coiled-coil domain containing 102A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308684	Ccdc102a	coiled-coil domain containing 102A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605307	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308685	Ddx23	DEAD-box helicase 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308685	Ddx23	DEAD-box helicase 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308685	Ddx23	DEAD-box helicase 23	gene	DOID:0080924	complex cortical dysplasia with other brain malformations 14B		ISO	RGD:1318600	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome	PMID:25741868
1308685	Ddx23	DEAD-box helicase 23	gene	DOID:10534	stomach cancer		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308685	Ddx23	DEAD-box helicase 23	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308685	Ddx23	DEAD-box helicase 23	gene	DOID:1324	lung cancer		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308685	Ddx23	DEAD-box helicase 23	gene	DOID:4362	cervical cancer		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308685	Ddx23	DEAD-box helicase 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308685	Ddx23	DEAD-box helicase 23	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308685	Ddx23	DEAD-box helicase 23	gene	DOID:630	genetic disease		ISO	RGD:1318600	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308685	Ddx23	DEAD-box helicase 23	gene	DOID:9003818	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES		ISO	RGD:1318600	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with visual defects and brain anomalies	PMID:25741868
1308685	Ddx23	DEAD-box helicase 23	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318600	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: DDX23-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:34050707
1308685	Ddx23	DEAD-box helicase 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308685	Ddx23	DEAD-box helicase 23	gene	DOID:9256	colorectal cancer		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1318602	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:0070796	ICHAD syndrome		ISO	RGD:1318602	D	RGD:7240710	20250730	OMIM			
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:0070796	ICHAD syndrome		ISO	RGD:1318602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ICHAD SYNDROME | ClinVar Annotator: match by term: ICHAD syndrome	PMID:25741868|PMID:30311386|PMID:37316189|PMID:39406892
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:0070797	immunodysregulation with variable immunodeficiency and autoimmunity		ISO	RGD:1318602	D	RGD:7240710	20250730	OMIM			
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:0070797	immunodysregulation with variable immunodeficiency and autoimmunity		ISO	RGD:1318602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODYSREGULATION WITH VARIABLE IMMUNODEFICIENCY AND AUTOIMMUNITY	
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:0080600	COVID-19		ISO	RGD:1318602	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:1909	melanoma		ISO	RGD:1318602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:3908	lung non-small cell carcinoma	exacerbates	ISO	RGD:1318602	D	RGD:151347635|PMID:26460798	20220131	RGD		protein:decreased expression:venous blood, lung, regulatory T cell (human)	
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308686	Ikzf2	IKAROS family zinc finger 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1318602	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:23334668
1308687	Ptp4a3	protein tyrosine phosphatase 4A3	gene	DOID:1115	sarcoma		ISO	RGD:1318604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308687	Ptp4a3	protein tyrosine phosphatase 4A3	gene	DOID:1909	melanoma		ISO	RGD:1318604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308687	Ptp4a3	protein tyrosine phosphatase 4A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308687	Ptp4a3	protein tyrosine phosphatase 4A3	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1318604	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:23555575
1308687	Ptp4a3	protein tyrosine phosphatase 4A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1318606	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583980
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:0070406	hypomyelinating leukodystrophy 24		ISO	RGD:1318606	D	RGD:7240710	20220427	OMIM			
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:0070406	hypomyelinating leukodystrophy 24		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24	PMID:25741868|PMID:34403372|PMID:35278131|PMID:36300302|PMID:39432785|PMID:40185629
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:0070604	autosomal dominant nonsyndromic deafness 84		ISO	RGD:1318606	D	RGD:7240710	20220615	OMIM			
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:0070604	autosomal dominant nonsyndromic deafness 84		ISO	RGD:1318606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:0080600	COVID-19		ISO	RGD:1318606	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:35255492
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:0110562	autosomal dominant nonsyndromic deafness 33		ISO	RGD:1318606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DFNA33	PMID:25741868|PMID:30311386
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:10534	stomach cancer		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:1324	lung cancer		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:3275	thymoma		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:4362	cervical cancer		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:630	genetic disease		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:9001767	Unilateral Hearing Loss		ISO	RGD:1318606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Unilateral deafness	PMID:25741868
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:9004053	Autosomal Dominant Auditory Neuropathy 2		ISO	RGD:1318606	D	RGD:7240710	20230531	OMIM			
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308688	Atp11a	ATPase phospholipid transporting 11A	gene	DOID:9256	colorectal cancer		ISO	RGD:1318606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308689	Enpp4	ectonucleotide pyrophosphatase/phosphodiesterase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308689	Enpp4	ectonucleotide pyrophosphatase/phosphodiesterase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308689	Enpp4	ectonucleotide pyrophosphatase/phosphodiesterase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308689	Enpp4	ectonucleotide pyrophosphatase/phosphodiesterase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308690	Klk11	kallikrein related-peptidase 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308690	Klk11	kallikrein related-peptidase 11	gene	DOID:3275	thymoma		ISO	RGD:1318610	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308690	Klk11	kallikrein related-peptidase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308690	Klk11	kallikrein related-peptidase 11	gene	DOID:630	genetic disease		ISO	RGD:1318610	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308690	Klk11	kallikrein related-peptidase 11	gene	DOID:9002915	Ichthyosis with Erythrokeratoderma		ISO	RGD:1318610	D	RGD:7240710	20230927	OMIM			
1308690	Klk11	kallikrein related-peptidase 11	gene	DOID:9002915	Ichthyosis with Erythrokeratoderma		ISO	RGD:1318610	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS WITH ERYTHROKERATODERMA	
1308690	Klk11	kallikrein related-peptidase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308691	Galk2	galactokinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308691	Galk2	galactokinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1318611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308691	Galk2	galactokinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1318611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308691	Galk2	galactokinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308691	Galk2	galactokinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318611	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308691	Galk2	galactokinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308691	Galk2	galactokinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308692	Nfatc3	nuclear factor of activated T-cells 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308692	Nfatc3	nuclear factor of activated T-cells 3	gene	DOID:10126	keratoconus		ISO	RGD:1318613	D	RGD:8554872	20181009	ClinVar		ClinVar Annotator: match by term: Keratoconus	
1308692	Nfatc3	nuclear factor of activated T-cells 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308692	Nfatc3	nuclear factor of activated T-cells 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308692	Nfatc3	nuclear factor of activated T-cells 3	gene	DOID:1324	lung cancer		ISO	RGD:1318613	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308692	Nfatc3	nuclear factor of activated T-cells 3	gene	DOID:3070	high grade glioma		ISO	RGD:1318613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308692	Nfatc3	nuclear factor of activated T-cells 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308692	Nfatc3	nuclear factor of activated T-cells 3	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1615176	D	RGD:1579956|PMID:9568714	19990101	RGD			
1308692	Nfatc3	nuclear factor of activated T-cells 3	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:1615176	D	RGD:1579956|PMID:9568714	19990101	RGD			
1308692	Nfatc3	nuclear factor of activated T-cells 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308693	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308693	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308693	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:1115	sarcoma		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308693	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:4362	cervical cancer		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308693	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308693	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308693	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:6039	uveal melanoma		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308693	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308693	Dnajc4	DnaJ heat shock protein family (Hsp40) member C4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308694	Mab21l3	mab-21 like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308694	Mab21l3	mab-21 like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308694	Mab21l3	mab-21 like 3	gene	DOID:1909	melanoma		ISO	RGD:1602303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318617	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:1324	lung cancer		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:3070	high grade glioma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:3275	thymoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1318617	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308695	Swt1	SWT1 RNA endoribonuclease homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308696	Xtbd1	XRN2 binding domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308696	Xtbd1	XRN2 binding domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308696	Xtbd1	XRN2 binding domain containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602992	D	RGD:11554173	20260707	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308697	Rmdn3	regulator of microtubule dynamics 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308697	Rmdn3	regulator of microtubule dynamics 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308697	Rmdn3	regulator of microtubule dynamics 3	gene	DOID:1324	lung cancer		ISO	RGD:1602700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308697	Rmdn3	regulator of microtubule dynamics 3	gene	DOID:1909	melanoma		ISO	RGD:1602700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308697	Rmdn3	regulator of microtubule dynamics 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602700	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308697	Rmdn3	regulator of microtubule dynamics 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308697	Rmdn3	regulator of microtubule dynamics 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1602700	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308697	Rmdn3	regulator of microtubule dynamics 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308697	Rmdn3	regulator of microtubule dynamics 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308697	Rmdn3	regulator of microtubule dynamics 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308698	Prkag3	protein kinase AMP-activated non-catalytic subunit gamma 3	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:1318621	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10818001|PMID:17878938
1308698	Prkag3	protein kinase AMP-activated non-catalytic subunit gamma 3	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:1318621	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17878938
1308698	Prkag3	protein kinase AMP-activated non-catalytic subunit gamma 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308699	Msl3l2	male-specific lethal 3-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308699	Msl3l2	male-specific lethal 3-like 2	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:1344504	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349890
1308699	Msl3l2	male-specific lethal 3-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308699	Msl3l2	male-specific lethal 3-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:0050602	triple-A syndrome		ISO	RGD:1318625	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17853339|PMID:23315990
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:0050602	triple-A syndrome		ISO	RGD:1318625	D	RGD:7240710	20130221	OMIM			
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:0050602	triple-A syndrome		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: AAAS-related condition | ClinVar Annotator: match by term: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME | ClinVar Annotator: match by term: ACHALASIA-ALACRIMA SYNDROME | ClinVar Annotator: match by term: Achalasia-addisonianism-alacrima syndrome | ClinVar Annotator: match by term: Achalasia-addisonianism-alacrimia syndrome | ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia | ClinVar Annotator: match by term: triple-A syndrome	PMID:11062474|PMID:11159947|PMID:11701718|PMID:12429595|PMID:12548737|PMID:12700313|PMID:12730363|PMID:12752575|PMID:14646395|PMID:15173230|PMID:15516781|PMID:15666842|PMID:15690314|PMID:16199547|PMID:16609705|PMID:16938764|PMID:17911039|PMID:18261130|PMID:18426811|PMID:18615337|PMID:18953174|PMID:20051279|PMID:20447142|PMID:20674935|PMID:21626165|PMID:21656342|PMID:22538409|PMID:22824007|PMID:23073554|PMID:24790383|PMID:25741868|PMID:26595337|PMID:27133709|PMID:27414811|PMID:27618595|PMID:28492532|PMID:28655339|PMID:29180348|PMID:29255950|PMID:29383495|PMID:29866068|PMID:29874194|PMID:30069287|PMID:30381913|PMID:30612286|PMID:31069529|PMID:31600784|PMID:31937715|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:33247909|PMID:34867779|PMID:35570467|PMID:38585542
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:10907	microcephaly		ISO	RGD:1318625	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:1115	sarcoma		ISO	RGD:1318625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:1826	epilepsy		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:5041	esophageal cancer		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:630	genetic disease		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:20499090|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:9000837	Esophageal Stenosis		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Esophageal stricture	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:9001981	Weight Loss		ISO	RGD:1318625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318625	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:9004034	Alacrima		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Alacrima	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:11062474|PMID:14646395|PMID:25741868|PMID:28492532|PMID:29874194|PMID:30381913
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:9006024	Hypotension		ISO	RGD:1318625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: low blood pressure	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:9006617	Fatigue		ISO	RGD:1318625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:9164	achalasia		ISO	RGD:1318625	D	RGD:9068941	20220825	RGD			PMID:16098009|REF_RGD_ID:1598514
1308701	Aaas	aladin WD repeat nucleoporin	gene	DOID:9164	achalasia	susceptibility	ISO	RGD:1318625	D	RGD:1598514|PMID:16098009	20061201	RGD			
1308702	Prpf39	pre-mRNA processing factor 39	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308702	Prpf39	pre-mRNA processing factor 39	gene	DOID:10534	stomach cancer		ISO	RGD:1318626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308702	Prpf39	pre-mRNA processing factor 39	gene	DOID:1324	lung cancer		ISO	RGD:1318626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308702	Prpf39	pre-mRNA processing factor 39	gene	DOID:1909	melanoma		ISO	RGD:1318626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308702	Prpf39	pre-mRNA processing factor 39	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308702	Prpf39	pre-mRNA processing factor 39	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308702	Prpf39	pre-mRNA processing factor 39	gene	DOID:5041	esophageal cancer		ISO	RGD:1318626	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308702	Prpf39	pre-mRNA processing factor 39	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308702	Prpf39	pre-mRNA processing factor 39	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308702	Prpf39	pre-mRNA processing factor 39	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308702	Prpf39	pre-mRNA processing factor 39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308702	Prpf39	pre-mRNA processing factor 39	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308703	Ift27	intraflagellar transport 27	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308703	Ift27	intraflagellar transport 27	gene	DOID:0110141	Bardet-Biedl syndrome 19		ISO	RGD:1318628	D	RGD:7240710	20170301	OMIM			
1308703	Ift27	intraflagellar transport 27	gene	DOID:0110141	Bardet-Biedl syndrome 19		ISO	RGD:1318628	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 19 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 19 | ClinVar Annotator: match by term: IFT27-related condition	PMID:24488770|PMID:25446516|PMID:28492532|PMID:29588463|PMID:30761183
1308703	Ift27	intraflagellar transport 27	gene	DOID:10534	stomach cancer		ISO	RGD:1318628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308703	Ift27	intraflagellar transport 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308703	Ift27	intraflagellar transport 27	gene	DOID:630	genetic disease		ISO	RGD:1318628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308703	Ift27	intraflagellar transport 27	gene	DOID:8501	fundus dystrophy		ISO	RGD:1318628	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:24033266|PMID:24271325|PMID:24332716|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:27854218|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0050557	congenital muscular dystrophy		ISS	RGD:1318631	D	RGD:13592920	20180518	MouseDO		OMIM:254100	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0050558	Ullrich congenital muscular dystrophy		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0050558	Ullrich congenital muscular dystrophy		ISS	RGD:1318631	D	RGD:13592920	20230718	MouseDO		OMIM:254090	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0050581	brachydactyly		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:28492532|PMID:37091313
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0050663	Bethlem myopathy		ISO	RGD:1318630	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, benign congenital	PMID:15563506|PMID:15689448|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18825676|PMID:20976770|PMID:20981092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24332716|PMID:25214167|PMID:25224718|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30487145|PMID:30564623|PMID:31731261|PMID:33964895|PMID:9536098
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0050663	Bethlem myopathy		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures	PMID:11992252|PMID:15563506|PMID:15689448|PMID:16141002|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:18366090|PMID:18414213|PMID:18825676|PMID:19344236|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24332716|PMID:24907562|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30564623|PMID:31230720|PMID:31345219|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:34167565|PMID:35239206|PMID:37091313|PMID:37445923|PMID:7695699|PMID:8218237|PMID:9536098
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0050840	cervical dystonia		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:15689448|PMID:19344236|PMID:24038877|PMID:27854213|PMID:28492532|PMID:7695699|PMID:8218237
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute promyelocytic leukemia	PMID:20301676|PMID:20976770|PMID:25741868|PMID:26004199|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0060943	Ullrich congenital muscular dystrophy 1C		ISO	RGD:1318630	D	RGD:7240710	20240320	OMIM			
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0060943	Ullrich congenital muscular dystrophy 1C		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1C	PMID:20976770|PMID:25741868|PMID:26004199|PMID:28492532|PMID:29419890
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0060946	Ullrich congenital muscular dystrophy 1A		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A	PMID:11992252|PMID:15689448|PMID:16199547|PMID:17576681|PMID:18366090|PMID:18414213|PMID:19344236|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:23040494|PMID:23572247|PMID:24038877|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26467025|PMID:28492532|PMID:28688748|PMID:29419890|PMID:29970176|PMID:30564623|PMID:31345219|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:34720847|PMID:35239206|PMID:35723357|PMID:39367186|PMID:7695699|PMID:8218237|PMID:9536098
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1318630	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A	PMID:11992252|PMID:15563506|PMID:15689448|PMID:16141002|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22995991|PMID:23040494|PMID:23175733|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24332716|PMID:24518369|PMID:24907562|PMID:25211533|PMID:25214167|PMID:25224718|PMID:25326635|PMID:25380242|PMID:25535305|PMID:25635128|PMID:25741868|PMID:25987458|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26436962|PMID:26467025|PMID:26566670|PMID:26752647|PMID:26872670|PMID:27447704|PMID:27708273|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28097933|PMID:28492532|PMID:28562329|PMID:28660205|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:29894794|PMID:29970176|PMID:30467950|PMID:30564623|PMID:30687093|PMID:30706156|PMID:31066050|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31265121|PMID:31345219|PMID:31731261|PMID:31862442|PMID:32037012|PMID:32065942|PMID:32154576|PMID:32343762|PMID:32403337|PMID:32448721|PMID:32528171|PMID:3352914|PMID:33596003|PMID:33749658|PMID:33879512|PMID:33964895|PMID:34167565|PMID:34418069|PMID:34440373|PMID:35239206|PMID:35487415|PMID:3564626|PMID:35723357|PMID:35846108|PMID:36498898|PMID:36703223|PMID:36982625|PMID:37023487|PMID:37091313|PMID:37366078|PMID:38374194|PMID:39021299|PMID:39825153|PMID:7695699|PMID:8218237|PMID:8817344|PMID:9536084|PMID:9536098|PMID:9724608
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1318630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A | ClinVar Annotator: match by term: COL6A1-related condition	PMID:11992252|PMID:15563506|PMID:15689448|PMID:16141002|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18366090|PMID:18414213|PMID:18825676|PMID:19344236|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24332716|PMID:24518369|PMID:24907562|PMID:25211533|PMID:25535305|PMID:25635128|PMID:25741868|PMID:25987458|PMID:26004199|PMID:26247046|PMID:26436962|PMID:26467025|PMID:26566670|PMID:27447704|PMID:27708273|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28492532|PMID:28562329|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:30564623|PMID:30687093|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31265121|PMID:32037012|PMID:32065942|PMID:32528171|PMID:33749658|PMID:33964895|PMID:34167565|PMID:34440373|PMID:37023487|PMID:37091313|PMID:37366078|PMID:37445923|PMID:39138584|PMID:7695699|PMID:8218237|PMID:9536084|PMID:9536098
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1318630	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A | ClinVar Annotator: match by term: COL6A1-related condition	PMID:11992252|PMID:15563506|PMID:15689448|PMID:16141002|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18366090|PMID:18414213|PMID:18825676|PMID:19344236|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:23040494|PMID:23572247|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24332716|PMID:24518369|PMID:24907562|PMID:25211533|PMID:25535305|PMID:25741868|PMID:25987458|PMID:26004199|PMID:26247046|PMID:26436962|PMID:26467025|PMID:26566670|PMID:27447704|PMID:27708273|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28492532|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:29970176|PMID:30564623|PMID:30687093|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31265121|PMID:31660995|PMID:32037012|PMID:32065942|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:34037256|PMID:34167565|PMID:34440373|PMID:35239206|PMID:37023487|PMID:37091313|PMID:37366078|PMID:37445923|PMID:39138584|PMID:7695699|PMID:8218237|PMID:9536084|PMID:9536098
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A | ClinVar Annotator: match by term: COL6A1-related condition	PMID:11992252|PMID:15563506|PMID:15689448|PMID:16141002|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18366090|PMID:18414213|PMID:18825676|PMID:19344236|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24332716|PMID:24518369|PMID:24907562|PMID:25211533|PMID:25535305|PMID:25741868|PMID:25987458|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26436962|PMID:26467025|PMID:26566670|PMID:26872670|PMID:27708273|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28492532|PMID:28562329|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:29970176|PMID:30564623|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31345219|PMID:32037012|PMID:32065942|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:34167565|PMID:34440373|PMID:35239206|PMID:37023487|PMID:37091313|PMID:37366078|PMID:37445923|PMID:39138584|PMID:7695699|PMID:8218237|PMID:9536084|PMID:9536098
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0061200	Bethlem myopathy 1C		ISO	RGD:1318630	D	RGD:7240710	20240320	OMIM			
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0061200	Bethlem myopathy 1C		ISO	RGD:1318630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1C	PMID:25741868|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0080000	muscular disease		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: muscle disorder	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0081337	congenital myopathy		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0090050	dystonia 27		ISO	RGD:1318630	D	RGD:7240710	20170118	OMIM			
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0090050	dystonia 27		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive distal hereditary motor neuropathy | ClinVar Annotator: match by term: DYSTONIA 27 | ClinVar Annotator: match by term: Dystonia 27 | ClinVar Annotator: match by term: dystonia 27	PMID:15689448|PMID:17576681|PMID:18378883|PMID:18414213|PMID:20301676|PMID:20976770|PMID:20981092|PMID:23572247|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:28492532|PMID:28688748|PMID:29970176|PMID:30564623|PMID:31345219|PMID:32065942|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:35239206|PMID:9536098
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:15689448|PMID:19344236|PMID:24038877|PMID:27854213|PMID:28492532|PMID:7695699|PMID:8218237
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0111428	essential tremor 1		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:28492532|PMID:37091313
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:0111669	hyaline fibromatosis syndrome		ISO	RGD:1318630	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hyalinosis, Inherited Systemic	PMID:25741868|PMID:33749658
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1318630	D	RGD:401854242|PMID:37483811	20231103	RGD		mRNA, protein:increased expression:stomach (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1318630	D	RGD:401854251|PMID:33470887	20231106	RGD		mRNA:increased expression:stomach (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1318630	D	RGD:401851036|PMID:34143713	20231026	RGD		DNA:SNP:CDS:D563, rs112913396 (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:10763	hypertension		ISO	RGD:1318630	D	RGD:401851058|PMID:30226566	20231027	RGD		DNA:SNP:CDS:E1386K (rs146092501) (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318630	D	RGD:401900123|PMID:30066698	20231107	RGD		mRNA, protein:increased expression:bladder (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:1115	sarcoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:24271325|PMID:24332716|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:25741868|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:11914	gastroparesis		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastroparesis	PMID:25741868|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:1318630	D	RGD:401851065|PMID:35692390	20231030	RGD		mRNA:increased expression:retina (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:13223	uterine fibroid		ISO	RGD:1318630	D	RGD:401851920|PMID:23818951	20231031	RGD		DNA:hypomethylation:uterus (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1318630	D	RGD:401851087|PMID:29137225	20231030	RGD		protein:increased expression:aorta (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:1673	pneumothorax		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pneumothorax	PMID:20301676|PMID:20976770|PMID:25741868|PMID:26004199|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:1826	epilepsy		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20301676|PMID:20976770|PMID:25741868|PMID:26004199|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:1909	melanoma		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:2033	communication disorder		ISO	RGD:1318630	D	RGD:401854249|PMID:35642741	20231106	RGD		DNA:SNP:CDS:multiple (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:2154	nephroblastoma		ISO	RGD:1318630	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:219	colon cancer		ISO	RGD:1318630	D	RGD:401900121|PMID:32245981	20231107	RGD		protein:increased expression:serum (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:2394	ovarian cancer		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:2841	asthma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532|PMID:37091313
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:3275	thymoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:15689448|PMID:20981092|PMID:23572247|PMID:25741868|PMID:26467025|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:3652	Leigh disease		ISO	RGD:1318630	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:423	myopathy		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:15689448|PMID:20981092|PMID:23572247|PMID:24033266|PMID:24271325|PMID:24332716|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1318630	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:15689448|PMID:20981092|PMID:23572247|PMID:25741868|PMID:26467025|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:5374	pilomatrixoma		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pilomatrixoma	PMID:20301676|PMID:20976770|PMID:25741868|PMID:26004199|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:543	dystonia		ISO	RGD:1318630	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:24271325|PMID:24332716|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:5844	myocardial infarction		ISO	RGD:1318630	D	RGD:401851058|PMID:30226566	20231027	RGD		DNA:SNP:CDS:E1386K (rs146092501) (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:630	genetic disease		ISO	RGD:1318630	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15689448|PMID:19344236|PMID:24038877|PMID:24314752|PMID:25741868|PMID:27854213|PMID:28492532|PMID:37445923|PMID:7695699|PMID:8218237
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:630	genetic disease		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15689448|PMID:19344236|PMID:24038877|PMID:24314752|PMID:25741868|PMID:27854213|PMID:28492532|PMID:37091313|PMID:37445923|PMID:7695699|PMID:8218237
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:767	muscular atrophy		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:28492532|PMID:37091313
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:784	chronic kidney disease		ISO	RGD:1318630	D	RGD:401851058|PMID:30226566	20231027	RGD		DNA:SNP:CDS:E1386K (rs146092501) (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:7998	hyperthyroidism		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:8577	ulcerative colitis		ISO	RGD:1318630	D	RGD:401900121|PMID:32245981	20231107	RGD		protein:increased expression:serum (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:8778	Crohn's disease		ISO	RGD:1318630	D	RGD:401900121|PMID:32245981	20231107	RGD		protein:increased expression:serum (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9000495	Tremor		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:28492532|PMID:37091313
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9001510	Funnel Chest		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:28492532|PMID:37091313
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1318630	D	RGD:401851916|PMID:35592524	20231031	RGD		mRNA:increased expression:nephron tubule (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1318630	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9003816	Macrocephaly		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:28492532|PMID:37091313
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:15689448|PMID:19344236|PMID:24038877|PMID:27854213|PMID:28492532|PMID:7695699|PMID:8218237
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:15689448|PMID:19344236|PMID:24038877|PMID:25741868|PMID:27854213|PMID:28492532|PMID:7695699|PMID:8218237
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:15689448|PMID:19344236|PMID:24038877|PMID:25741868|PMID:27854213|PMID:28492532|PMID:7695699|PMID:8218237
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318630	D	RGD:401851041|PMID:23626599	20231026	RGD		Associated with Down syndrome; DNA:SNP:CDS:rs2270669 (human)	
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:18366090|PMID:20976770|PMID:21280092|PMID:25635128|PMID:25741868|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:20301676|PMID:20976770|PMID:25741868|PMID:26004199|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1318630	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:24271325|PMID:24332716|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:15689448|PMID:24332716|PMID:25741868|PMID:26004199|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:37091313
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:15689448|PMID:20981092|PMID:23572247|PMID:25741868|PMID:26467025|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1308704	Col6a3	collagen type VI alpha 3 chain	gene	DOID:9884	muscular dystrophy	susceptibility	ISO	RGD:1318630	D	RGD:1600940|PMID:9536084	20070402	RGD		Bethlem myopathy, OMIM:158810;DNA:missense mutation	
1308705	Zfp592	zinc finger protein 592	gene	DOID:0060364	Galloway-Mowat syndrome 1		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Galloway-Mowat syndrome 1	PMID:25741868
1308705	Zfp592	zinc finger protein 592	gene	DOID:0080694	Galloway-Mowat syndrome		ISO	RGD:1318632	D	RGD:11554173	20170321	CTD		CTD Direct Evidence: marker/mechanism	PMID:20531441
1308705	Zfp592	zinc finger protein 592	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1318632	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
1308705	Zfp592	zinc finger protein 592	gene	DOID:10534	stomach cancer		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308705	Zfp592	zinc finger protein 592	gene	DOID:1324	lung cancer		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308705	Zfp592	zinc finger protein 592	gene	DOID:1909	melanoma		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308705	Zfp592	zinc finger protein 592	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308705	Zfp592	zinc finger protein 592	gene	DOID:3070	high grade glioma		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308705	Zfp592	zinc finger protein 592	gene	DOID:3312	bipolar disorder		ISO	RGD:1318632	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
1308705	Zfp592	zinc finger protein 592	gene	DOID:4362	cervical cancer		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308705	Zfp592	zinc finger protein 592	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318632	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308705	Zfp592	zinc finger protein 592	gene	DOID:9003816	Macrocephaly		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1308705	Zfp592	zinc finger protein 592	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1308705	Zfp592	zinc finger protein 592	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308705	Zfp592	zinc finger protein 592	gene	DOID:9007573	Flatfoot		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes valgus	PMID:25741868
1308705	Zfp592	zinc finger protein 592	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1308705	Zfp592	zinc finger protein 592	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308705	Zfp592	zinc finger protein 592	gene	DOID:9884	muscular dystrophy		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
1308706	Hdip1	HDAC and MIER1 interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1604693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308706	Hdip1	HDAC and MIER1 interacting protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308706	Hdip1	HDAC and MIER1 interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:0060058	lymphoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:10534	stomach cancer		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:1115	sarcoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:1324	lung cancer		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:1909	melanoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:3275	thymoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:4362	cervical cancer		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1354268	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354268	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:35977029
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:9005697	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES		ISO	RGD:1354268	D	RGD:7240710	20230920	OMIM			
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:9005697	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies	PMID:25741868|PMID:35977029
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308707	Ubap2l	ubiquitin associated protein 2-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308708	Tjap1	tight junction associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308708	Tjap1	tight junction associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308708	Tjap1	tight junction associated protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308708	Tjap1	tight junction associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1318637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308708	Tjap1	tight junction associated protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308708	Tjap1	tight junction associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308708	Tjap1	tight junction associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318637	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308708	Tjap1	tight junction associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308709	Tm4sf5	transmembrane 4 L six family member 5	gene	DOID:1324	lung cancer		ISO	RGD:1318639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308709	Tm4sf5	transmembrane 4 L six family member 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308709	Tm4sf5	transmembrane 4 L six family member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1318639	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308710	Crim1	cysteine rich transmembrane BMP regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308710	Crim1	cysteine rich transmembrane BMP regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308710	Crim1	cysteine rich transmembrane BMP regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1318641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308710	Crim1	cysteine rich transmembrane BMP regulator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308710	Crim1	cysteine rich transmembrane BMP regulator 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1318641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308710	Crim1	cysteine rich transmembrane BMP regulator 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308710	Crim1	cysteine rich transmembrane BMP regulator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308710	Crim1	cysteine rich transmembrane BMP regulator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308710	Crim1	cysteine rich transmembrane BMP regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308710	Crim1	cysteine rich transmembrane BMP regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308711	Zfp697	zinc finger protein 697	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308711	Zfp697	zinc finger protein 697	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308711	Zfp697	zinc finger protein 697	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308712	Guca1a	guanylate cyclase activator 1A	gene	DOID:0080314	cone-rod dystrophy 14		ISO	RGD:30301436	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308712	Guca1a	guanylate cyclase activator 1A	gene	DOID:0080314	cone-rod dystrophy 14		ISO	RGD:30301436	D	RGD:7240710	20200708	OMIM			
1308712	Guca1a	guanylate cyclase activator 1A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:11665245|RGD:11665246|RGD:11665293|RGD:11665337|RGD:11665360|RGD:11665421|RGD:11665600|RGD:11665634|RGD:11665654|RGD:11665758|RGD:11665852|RGD:11666055|RGD:11666143|RGD:11666210|RGD:11666263|RGD:11666286|RGD:11666399|RGD:11666553|RGD:11666574|RGD:11666603|RGD:11666620|RGD:11666785|RGD:11666786	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	
1308712	Guca1a	guanylate cyclase activator 1A	gene	DOID:9002525	Hereditary Eye Diseases		ISO	RGD:1318644	D	RGD:1599353|PMID:9425234	20070130	RGD		autosomal dominant cone dystrophy 3, OMIM:602093	
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:0070378	developmental and epileptic encephalopathy 109		ISO	RGD:1318646	D	RGD:7240710	20221214	OMIM			
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:0070378	developmental and epileptic encephalopathy 109		ISO	RGD:1318646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 109 | ClinVar Annotator: match by term: FZR1-related condition	PMID:25741868|PMID:31318984|PMID:34788397
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:1115	sarcoma		ISO	RGD:1318646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318646	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:1909	melanoma		ISO	RGD:1318646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1318646	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:630	genetic disease		ISO	RGD:1318646	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:9005779	Polyploidy		ISO	RGD:1318646	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25123929
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308713	Fzr1	fizzy and cell division cycle 20 related 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308714	Trim36	tripartite motif-containing 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308714	Trim36	tripartite motif-containing 36	gene	DOID:0060668	anencephaly		ISO	RGD:1318648	D	RGD:11554173	20210811	CTD		CTD Direct Evidence: marker/mechanism	
1308714	Trim36	tripartite motif-containing 36	gene	DOID:0060668	anencephaly		ISO	RGD:1318648	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anencephaly	
1308714	Trim36	tripartite motif-containing 36	gene	DOID:1324	lung cancer		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308714	Trim36	tripartite motif-containing 36	gene	DOID:1909	melanoma		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308714	Trim36	tripartite motif-containing 36	gene	DOID:3070	high grade glioma		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308714	Trim36	tripartite motif-containing 36	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308714	Trim36	tripartite motif-containing 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308714	Trim36	tripartite motif-containing 36	gene	DOID:9009020	Anencephaly 1		ISO	RGD:1318648	D	RGD:7240710	20210728	OMIM			
1308714	Trim36	tripartite motif-containing 36	gene	DOID:9009020	Anencephaly 1		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anencephaly 1 | ClinVar Annotator: match by term: TRIM36-related condition	PMID:25741868
1308714	Trim36	tripartite motif-containing 36	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308715	Ipo5	importin 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308715	Ipo5	importin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308715	Ipo5	importin 5	gene	DOID:10534	stomach cancer		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308715	Ipo5	importin 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308715	Ipo5	importin 5	gene	DOID:1115	sarcoma		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308715	Ipo5	importin 5	gene	DOID:1909	melanoma		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308715	Ipo5	importin 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308715	Ipo5	importin 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308715	Ipo5	importin 5	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1603712	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1308715	Ipo5	importin 5	gene	DOID:4362	cervical cancer		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308715	Ipo5	importin 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1603712	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308715	Ipo5	importin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308715	Ipo5	importin 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308715	Ipo5	importin 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308715	Ipo5	importin 5	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1603712	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1308715	Ipo5	importin 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308715	Ipo5	importin 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308715	Ipo5	importin 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308715	Ipo5	importin 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1603712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:10534	stomach cancer		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:1115	sarcoma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:1324	lung cancer		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:14250	Down syndrome		ISO	RGD:1318653	D	RGD:5143983|PMID:9328467	20110727	RGD		protein:increased expression:cerebellum (human)	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:3070	high grade glioma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318653	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:4297	scimitar syndrome		ISO	RGD:1318653	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: total anomalous pulmonary venous return	PMID:32641753
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318653	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:6039	uveal melanoma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1318653	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23897011
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1318653	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308717	Gart	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:0050439	Usher syndrome		ISO	RGD:1318655	D	RGD:11554173	20260113	CTD		CTD Direct Evidence: marker/mechanism	PMID:23023331
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:0050439	Usher syndrome		ISO	RGD:1318655	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:24033266|PMID:25741868|PMID:26173970|PMID:26214305|PMID:26226137|PMID:26426422|PMID:26445815|PMID:26992781|PMID:28492532|PMID:28663585|PMID:29112224|PMID:30055715|PMID:30311386|PMID:34837038
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:0110505	autosomal recessive nonsyndromic deafness 48		ISO	RGD:1318655	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:23023331
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:0110505	autosomal recessive nonsyndromic deafness 48		ISO	RGD:1318655	D	RGD:7240710	20130807	OMIM			
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:0110505	autosomal recessive nonsyndromic deafness 48		ISO	RGD:1318655	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CIB2-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 48 | ClinVar Annotator: match by term: Deafness, autosomal recessive 48 | ClinVar Annotator: match by term: Usher syndrome type 1J	PMID:20301442|PMID:23023331|PMID:24033266|PMID:25741868|PMID:26173970|PMID:26226137|PMID:26445815|PMID:28492532|PMID:29112224
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:0110505	autosomal recessive nonsyndromic deafness 48		ISS	RGD:1318656	D	RGD:13592920	20230718	MouseDO		OMIM:609439	
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1318655	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:1909	melanoma		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24033266|PMID:26426422|PMID:28492532
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:3275	thymoma		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318655	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318655	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:630	genetic disease		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1318655	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:26173970|PMID:28492532|PMID:28663585|PMID:2911222|PMID:29112224|PMID:30311386
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318655	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1308718	Cib2	calcium and integrin binding family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308719	Ktn1	kinectin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308719	Ktn1	kinectin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308719	Ktn1	kinectin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308719	Ktn1	kinectin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308719	Ktn1	kinectin 1	gene	DOID:1115	sarcoma		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308719	Ktn1	kinectin 1	gene	DOID:1324	lung cancer		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308719	Ktn1	kinectin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308719	Ktn1	kinectin 1	gene	DOID:3070	high grade glioma		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308719	Ktn1	kinectin 1	gene	DOID:3275	thymoma		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308719	Ktn1	kinectin 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308719	Ktn1	kinectin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308719	Ktn1	kinectin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308719	Ktn1	kinectin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343201	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308719	Ktn1	kinectin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308719	Ktn1	kinectin 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308719	Ktn1	kinectin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308719	Ktn1	kinectin 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308719	Ktn1	kinectin 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308719	Ktn1	kinectin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308719	Ktn1	kinectin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308719	Ktn1	kinectin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308719	Ktn1	kinectin 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1343201	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308721	Tspan32	tetraspanin 32	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308721	Tspan32	tetraspanin 32	gene	DOID:1115	sarcoma		ISO	RGD:1318659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308721	Tspan32	tetraspanin 32	gene	DOID:1909	melanoma		ISO	RGD:1318659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308721	Tspan32	tetraspanin 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308721	Tspan32	tetraspanin 32	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308722	Ybey	ybeY metalloendoribonuclease	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308722	Ybey	ybeY metalloendoribonuclease	gene	DOID:4362	cervical cancer		ISO	RGD:1318661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308722	Ybey	ybeY metalloendoribonuclease	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308722	Ybey	ybeY metalloendoribonuclease	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308722	Ybey	ybeY metalloendoribonuclease	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308722	Ybey	ybeY metalloendoribonuclease	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308723	Znhit6	zinc finger, HIT-type containing 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308723	Znhit6	zinc finger, HIT-type containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308723	Znhit6	zinc finger, HIT-type containing 6	gene	DOID:1324	lung cancer		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308723	Znhit6	zinc finger, HIT-type containing 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308723	Znhit6	zinc finger, HIT-type containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308723	Znhit6	zinc finger, HIT-type containing 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308723	Znhit6	zinc finger, HIT-type containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1607024	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308723	Znhit6	zinc finger, HIT-type containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308723	Znhit6	zinc finger, HIT-type containing 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308723	Znhit6	zinc finger, HIT-type containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308723	Znhit6	zinc finger, HIT-type containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308726	Sf3a3	splicing factor 3a, subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308726	Sf3a3	splicing factor 3a, subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308726	Sf3a3	splicing factor 3a, subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1318668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308726	Sf3a3	splicing factor 3a, subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1318668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1308726	Sf3a3	splicing factor 3a, subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1318668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308726	Sf3a3	splicing factor 3a, subunit 3	gene	DOID:3070	high grade glioma		ISO	RGD:1318668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308726	Sf3a3	splicing factor 3a, subunit 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308726	Sf3a3	splicing factor 3a, subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318668	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308726	Sf3a3	splicing factor 3a, subunit 3	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1318668	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1308726	Sf3a3	splicing factor 3a, subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308726	Sf3a3	splicing factor 3a, subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308726	Sf3a3	splicing factor 3a, subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308726	Sf3a3	splicing factor 3a, subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308726	Sf3a3	splicing factor 3a, subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308727	Apobec2	apolipoprotein B mRNA editing enzyme catalytic subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1318670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308727	Apobec2	apolipoprotein B mRNA editing enzyme catalytic subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308727	Apobec2	apolipoprotein B mRNA editing enzyme catalytic subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308727	Apobec2	apolipoprotein B mRNA editing enzyme catalytic subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318670	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308727	Apobec2	apolipoprotein B mRNA editing enzyme catalytic subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308728	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308728	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:1324	lung cancer		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308728	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:1909	melanoma		ISO	RGD:1318672	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778180
1308728	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308728	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308728	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308728	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308728	Cnnm1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308730	Mmp20	matrix metallopeptidase 20	gene	DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2		ISO	RGD:1318675	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308730	Mmp20	matrix metallopeptidase 20	gene	DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2		ISO	RGD:1318675	D	RGD:7240710	20130221	OMIM			
1308730	Mmp20	matrix metallopeptidase 20	gene	DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2 | ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA2	PMID:15744043|PMID:16246936|PMID:18096894|PMID:19966041|PMID:21597265|PMID:22243262|PMID:23355523|PMID:23625376|PMID:25741868|PMID:26124219|PMID:26502894|PMID:28473773|PMID:28492532|PMID:28659819|PMID:31999931|PMID:32495503|PMID:33600052|PMID:37228816
1308730	Mmp20	matrix metallopeptidase 20	gene	DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2		ISS	RGD:1318676	D	RGD:13592920	20230718	MouseDO		OMIM:612529	
1308730	Mmp20	matrix metallopeptidase 20	gene	DOID:10534	stomach cancer		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:15744043|PMID:18096894|PMID:21597265|PMID:22243262|PMID:23625376|PMID:25741868|PMID:26502894|PMID:28492532|PMID:32495503|PMID:33600052|PMID:37228816
1308730	Mmp20	matrix metallopeptidase 20	gene	DOID:12849	autistic disorder		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:15744043|PMID:16246936|PMID:18096894|PMID:19966041|PMID:22243262|PMID:23355523|PMID:23625376|PMID:25741868|PMID:26124219
1308730	Mmp20	matrix metallopeptidase 20	gene	DOID:1324	lung cancer		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308730	Mmp20	matrix metallopeptidase 20	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta	PMID:15744043|PMID:18096894|PMID:21597265|PMID:22243262|PMID:23625376|PMID:25741868|PMID:26502894|PMID:28492532|PMID:32495503|PMID:33600052|PMID:37228816
1308730	Mmp20	matrix metallopeptidase 20	gene	DOID:3070	high grade glioma		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308730	Mmp20	matrix metallopeptidase 20	gene	DOID:5419	schizophrenia		ISO	RGD:1318675	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1308730	Mmp20	matrix metallopeptidase 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308730	Mmp20	matrix metallopeptidase 20	gene	DOID:630	genetic disease		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15744043|PMID:18096894|PMID:21597265|PMID:22243262|PMID:23625376|PMID:25741868|PMID:26502894|PMID:28492532|PMID:32495503|PMID:33600052|PMID:37228816
1308730	Mmp20	matrix metallopeptidase 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308730	Mmp20	matrix metallopeptidase 20	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15744043|PMID:16246936|PMID:18096894|PMID:19966041|PMID:22243262|PMID:23355523|PMID:23625376|PMID:25741868|PMID:26124219
1308731	Zbtb37	zinc finger and BTB domain containing 37	gene	DOID:1115	sarcoma		ISO	RGD:1352612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308731	Zbtb37	zinc finger and BTB domain containing 37	gene	DOID:4362	cervical cancer		ISO	RGD:1352612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308731	Zbtb37	zinc finger and BTB domain containing 37	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308732	Cdc50b	cell division cycle 50 P4-ATPase accessory subunit B	gene	DOID:1909	melanoma		ISO	RGD:1318678	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778180
1308733	Mrps26	mitochondrial ribosomal protein S26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308733	Mrps26	mitochondrial ribosomal protein S26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308733	Mrps26	mitochondrial ribosomal protein S26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308734	Plbd1	phospholipase B domain containing 1	gene	DOID:0080600	COVID-19		ISO	RGD:1605619	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308734	Plbd1	phospholipase B domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308734	Plbd1	phospholipase B domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308734	Plbd1	phospholipase B domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1605619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308734	Plbd1	phospholipase B domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1605619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308734	Plbd1	phospholipase B domain containing 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605619	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427
1308734	Plbd1	phospholipase B domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:0050469	Costello syndrome		ISO	RGD:1318683	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:0070484	Legius syndrome		ISO	RGD:1318683	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:0070484	Legius syndrome		ISO	RGD:1318683	D	RGD:7240710	20130221	OMIM			
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:0070484	Legius syndrome		ISO	RGD:1318683	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LEGIUS SYNDROME | ClinVar Annotator: match by term: Legius Syndrome | ClinVar Annotator: match by term: Legius syndrome | ClinVar Annotator: match by term: SPRED1-related disorder	PMID:15683364|PMID:16199547|PMID:17576681|PMID:17704776|PMID:19366998|PMID:19443465|PMID:19920235|PMID:20179001|PMID:20945555|PMID:21089071|PMID:21520333|PMID:21548021|PMID:21649642|PMID:22751498|PMID:2275304|PMID:22753041|PMID:24033266|PMID:24334617|PMID:24469042|PMID:25074460|PMID:25741868|PMID:25883013|PMID:25981987|PMID:26084686|PMID:26214305|PMID:26350204|PMID:26635368|PMID:27081556|PMID:27322474|PMID:27763634|PMID:28150585|PMID:28378438|PMID:28492532|PMID:28747691|PMID:29758562|PMID:31370276|PMID:31401120|PMID:31443423|PMID:31573083|PMID:31629629|PMID:32107864|PMID:32396270|PMID:32575496|PMID:32806529|PMID:33057194|PMID:33919104|PMID:35418823|PMID:35904599|PMID:35982159|PMID:37927732|PMID:38268057|PMID:39031930|PMID:9536098
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:1318683	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17704776
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:1318683	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis type 1 | ClinVar Annotator: match by term: Neurofibromatosis, type 1	PMID:17704776|PMID:19443465|PMID:19920235|PMID:20945555|PMID:21089071|PMID:21548021|PMID:21649642|PMID:22751498|PMID:25074460|PMID:25741868|PMID:25883013|PMID:26635368|PMID:28492532|PMID:29493581|PMID:31401120
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:19920235|PMID:21089071|PMID:21548021|PMID:22751498|PMID:2275304|PMID:26635368|PMID:28492532|PMID:31401120
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:19920235|PMID:21089071|PMID:21548021|PMID:22751498|PMID:2275304|PMID:26635368|PMID:28492532|PMID:31401120
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:19920235|PMID:21089071|PMID:21548021|PMID:22751498|PMID:2275304|PMID:26635368|PMID:28492532|PMID:31401120
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:1826	epilepsy		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:19920235|PMID:21089071|PMID:21548021|PMID:22751498|PMID:2275304|PMID:26635368|PMID:28492532|PMID:31401120
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:2769	tic disorder		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phonic tics	PMID:19920235|PMID:21089071|PMID:21548021|PMID:22751498|PMID:2275304|PMID:26635368|PMID:28492532|PMID:31401120
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:3315	lipoma		ISO	RGD:1318683	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Lipoma	PMID:17704776|PMID:19443465|PMID:19920235|PMID:21089071|PMID:21548021|PMID:25074460|PMID:25741868|PMID:28492532
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1318683	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Noonan syndrome	PMID:28492532
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318683	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1318683	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19920235|PMID:21089071|PMID:21548021|PMID:22751498|PMID:2275304|PMID:26635368|PMID:28492532|PMID:31401120
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:19920235|PMID:21089071|PMID:21548021|PMID:22751498|PMID:2275304|PMID:26635368|PMID:28492532|PMID:31401120
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1318683	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:17704776|PMID:19443465|PMID:19920235|PMID:21089071|PMID:21548021|PMID:22751498|PMID:2275304|PMID:25074460|PMID:25741868|PMID:26635368|PMID:28492532|PMID:31401120
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1318683	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17704776
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1318683	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17704776
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:9007892	Tics		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor tics	PMID:19920235|PMID:21089071|PMID:21548021|PMID:22751498|PMID:2275304|PMID:26635368|PMID:28492532|PMID:31401120
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: developmental delay	PMID:25741868|PMID:28492532
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308735	Spred1	sprouty-related, EVH1 domain containing 1	gene	DOID:962	neurofibroma		ISO	RGD:1318683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurofibroma	PMID:17704776|PMID:24469042|PMID:25741868|PMID:28492532
1308736	Hmgn5b	high mobility group nucleosome binding domain 5B	gene	DOID:9001573	Experimental Liver Cirrhosis		EXP		D	RGD:11554173	20241001	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308737	Pias4	protein inhibitor of activated STAT, 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308737	Pias4	protein inhibitor of activated STAT, 4	gene	DOID:10534	stomach cancer		ISO	RGD:1318687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308737	Pias4	protein inhibitor of activated STAT, 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308737	Pias4	protein inhibitor of activated STAT, 4	gene	DOID:1115	sarcoma		ISO	RGD:1318687	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308737	Pias4	protein inhibitor of activated STAT, 4	gene	DOID:1324	lung cancer		ISO	RGD:1318687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308737	Pias4	protein inhibitor of activated STAT, 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308737	Pias4	protein inhibitor of activated STAT, 4	gene	DOID:4362	cervical cancer		ISO	RGD:1318687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308737	Pias4	protein inhibitor of activated STAT, 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1318687	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308737	Pias4	protein inhibitor of activated STAT, 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308737	Pias4	protein inhibitor of activated STAT, 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:0060673	Peters anomaly		ISO	RGD:1603059	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:25741868|PMID:36450800
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:0090071	hypogonadotropic hypogonadism 11 with or without anosmia		ISO	RGD:1603059	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia	PMID:25741868|PMID:36178483
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:0111586	Martsolf syndrome 1		ISO	RGD:1603059	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Martsolf syndrome 1	PMID:25741868
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:10629	microphthalmia		ISO	RGD:1603059	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Bilateral microphthalmos | ClinVar Annotator: match by term: Unilateral microphthalmos	PMID:25741868|PMID:36450800
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:1324	lung cancer		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:1909	melanoma		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1603059	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:9002049	Anophthalmia		ISO	RGD:1603059	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Anophthalmia	PMID:25741868|PMID:36450800
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603059	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33057194
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308738	Arhgap35	Rho GTPase activating protein 35	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1308739	Phf21b	PHD finger protein 21B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308739	Phf21b	PHD finger protein 21B	gene	DOID:1115	sarcoma		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308739	Phf21b	PHD finger protein 21B	gene	DOID:1909	melanoma		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308739	Phf21b	PHD finger protein 21B	gene	DOID:4362	cervical cancer		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308739	Phf21b	PHD finger protein 21B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308740	Ctu1	cytosolic thiouridylase subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308740	Ctu1	cytosolic thiouridylase subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308740	Ctu1	cytosolic thiouridylase subunit 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1602450	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
1308740	Ctu1	cytosolic thiouridylase subunit 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1602450	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
1308740	Ctu1	cytosolic thiouridylase subunit 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1602450	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
1308740	Ctu1	cytosolic thiouridylase subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308740	Ctu1	cytosolic thiouridylase subunit 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1602450	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
1308743	Ern2	endoplasmic reticulum to nucleus signaling 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308743	Ern2	endoplasmic reticulum to nucleus signaling 2	gene	DOID:10534	stomach cancer		ISO	RGD:1346348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308743	Ern2	endoplasmic reticulum to nucleus signaling 2	gene	DOID:1115	sarcoma		ISO	RGD:1346348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308743	Ern2	endoplasmic reticulum to nucleus signaling 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308743	Ern2	endoplasmic reticulum to nucleus signaling 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308743	Ern2	endoplasmic reticulum to nucleus signaling 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308744	Dlx4	distal-less homeobox 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308744	Dlx4	distal-less homeobox 4	gene	DOID:0080408	orofacial cleft 15		ISO	RGD:1318695	D	RGD:7240710	20190315	OMIM			
1308744	Dlx4	distal-less homeobox 4	gene	DOID:0080408	orofacial cleft 15		ISO	RGD:1318695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DLX4-related condition | ClinVar Annotator: match by term: Orofacial cleft 15	PMID:25741868|PMID:28492532
1308744	Dlx4	distal-less homeobox 4	gene	DOID:1909	melanoma		ISO	RGD:1318695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308744	Dlx4	distal-less homeobox 4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318695	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1308744	Dlx4	distal-less homeobox 4	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1318695	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
1308745	Pamr1	peptidase domain containing associated with muscle regeneration 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308745	Pamr1	peptidase domain containing associated with muscle regeneration 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308745	Pamr1	peptidase domain containing associated with muscle regeneration 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308745	Pamr1	peptidase domain containing associated with muscle regeneration 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308745	Pamr1	peptidase domain containing associated with muscle regeneration 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1604026	D	RGD:11554173	20200317	CTD		CTD Direct Evidence: marker/mechanism	PMID:28751527
1308745	Pamr1	peptidase domain containing associated with muscle regeneration 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1604026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308745	Pamr1	peptidase domain containing associated with muscle regeneration 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604026	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308745	Pamr1	peptidase domain containing associated with muscle regeneration 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604026	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308745	Pamr1	peptidase domain containing associated with muscle regeneration 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1604026	D	RGD:11554173	20200317	CTD		CTD Direct Evidence: marker/mechanism	PMID:28751527
1308745	Pamr1	peptidase domain containing associated with muscle regeneration 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308745	Pamr1	peptidase domain containing associated with muscle regeneration 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308746	Ripply2	ripply transcriptional repressor 2	gene	DOID:0112360	spondylocostal dysostosis 6		ISO	RGD:1604749	D	RGD:7240710	20170208	OMIM			
1308746	Ripply2	ripply transcriptional repressor 2	gene	DOID:0112360	spondylocostal dysostosis 6		ISS	RGD:1318698	D	RGD:13592920	20260129	MouseDO		OMIM:616566	
1308746	Ripply2	ripply transcriptional repressor 2	gene	DOID:9006006	Spondylocostal Dysostosis, Autosomal Recessive		ISO	RGD:1604749	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1308747	Pimreg	PICALM interacting mitotic regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308747	Pimreg	PICALM interacting mitotic regulator	gene	DOID:1115	sarcoma		ISO	RGD:1604005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308747	Pimreg	PICALM interacting mitotic regulator	gene	DOID:1324	lung cancer		ISO	RGD:1604005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308747	Pimreg	PICALM interacting mitotic regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308747	Pimreg	PICALM interacting mitotic regulator	gene	DOID:3275	thymoma		ISO	RGD:1604005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308747	Pimreg	PICALM interacting mitotic regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308747	Pimreg	PICALM interacting mitotic regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308747	Pimreg	PICALM interacting mitotic regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308747	Pimreg	PICALM interacting mitotic regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308748	Rsbn1l	round spermatid basic protein 1-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308748	Rsbn1l	round spermatid basic protein 1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308748	Rsbn1l	round spermatid basic protein 1-like	gene	DOID:0080600	COVID-19		ISO	RGD:1351057	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1308748	Rsbn1l	round spermatid basic protein 1-like	gene	DOID:10534	stomach cancer		ISO	RGD:1351057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308748	Rsbn1l	round spermatid basic protein 1-like	gene	DOID:4362	cervical cancer		ISO	RGD:1351057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308748	Rsbn1l	round spermatid basic protein 1-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1351057	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308748	Rsbn1l	round spermatid basic protein 1-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308748	Rsbn1l	round spermatid basic protein 1-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308748	Rsbn1l	round spermatid basic protein 1-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308749	Lhx8	LIM homeobox 8	gene	DOID:1115	sarcoma		ISO	RGD:1606630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1308749	Lhx8	LIM homeobox 8	gene	DOID:1324	lung cancer		ISO	RGD:1606630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1308749	Lhx8	LIM homeobox 8	gene	DOID:9006302	Binge Drinking		IEP		D	RGD:597538603|PMID:37402853	20250131	RGD		mRNA:decreased expression:basal forebrain cholinergic neurons	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318705	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1318705	D	RGD:7387330|PMID:19098994	20131029	RGD		DNA:SNP, haplotype: :rs1048661, rs2165241, rs3825942 (human)	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:1070	primary open angle glaucoma	no_association	ISO	RGD:1318705	D	RGD:7394723|PMID:18223248	20131031	RGD		DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human)	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:1318705	D	RGD:7387334|PMID:21236409	20131029	RGD		DNA:SNP:exon:p.R141L (human)	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318705	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17456585
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:13550	angle-closure glaucoma	no_association	ISO	RGD:1318705	D	RGD:7394723|PMID:18223248	20131031	RGD		DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human)	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1318705	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:25706626|PMID:28553957
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1318705	D	RGD:7387325|PMID:23378724	20131029	RGD		DNA:SNP: :p.R141L (rs1048661) (human)	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1318705	D	RGD:7387326|PMID:19373106	20131029	RGD		DNA:SNP: :multiple	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1318705	D	RGD:7387327|PMID:19503743	20131029	RGD		DNA:SNP, haplotypes: :rs1048661, rs3825942 (human)	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1318705	D	RGD:7387328|PMID:22605916	20131029	RGD		DNA:SNP:exon:rs1048661, rs3825942 (human)	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1318705	D	RGD:7387329|PMID:21740868	20131029	RGD			
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1318705	D	RGD:7387331|PMID:21212179	20131029	RGD		DNA:SNP, haplotypes:promoter:multiple	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1318705	D	RGD:7387332|PMID:21320968	20131029	RGD		DNA:SNPs:exon:p.R141L, p.G153D (human)	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1318705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EXFOLIATION SYNDROME, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: LOXL1-related condition	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1318706	D	RGD:7394726|PMID:19029039	20131031	RGD			
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:13641	exfoliation syndrome		ISS	RGD:1318706	D	RGD:13592920	20230718	MouseDO		OMIM:177650	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:13641	exfoliation syndrome	no_association	ISO	RGD:1318705	D	RGD:7387333|PMID:23288989	20131029	RGD		DNA:CNVs	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:13641	exfoliation syndrome	susceptibility	ISO	RGD:1318705	D	RGD:7240710	20190502	OMIM			
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:3275	thymoma		ISO	RGD:1318705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1318705	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097701
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:1318706	D	RGD:7394725|PMID:18296663	20131031	RGD			
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:9001330	Urinary Incontinence, Stress		ISO	RGD:1318705	D	RGD:7394729|PMID:22765198	20131031	RGD		DNA:SNPs, haplotype:exon, intron:rs1048661, rs2165241 (human)	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:9003936	Cardiomegaly		IEP		D	RGD:7394734|PMID:17378376	20131031	RGD			
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:9007023	Prenatal Injuries		ISO	RGD:1318705	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20045017
1308752	Loxl1	lysyl oxidase-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:0060058	lymphoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:1909	melanoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:3275	thymoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1318707	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:9008448	YUKSEL-VOGEL-BAUER SYNDROME		ISO	RGD:1318707	D	RGD:7240710	20240327	OMIM			
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:9008448	YUKSEL-VOGEL-BAUER SYNDROME		ISO	RGD:1318707	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DLG5-related disorder | ClinVar Annotator: match by term: YUKSEL-VOGEL-BAUER SYNDROME	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308753	Dlg5	discs large MAGUK scaffold protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308754	Zfp653	zinc finger protein 653	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308754	Zfp653	zinc finger protein 653	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308754	Zfp653	zinc finger protein 653	gene	DOID:1115	sarcoma		ISO	RGD:1347968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308754	Zfp653	zinc finger protein 653	gene	DOID:3275	thymoma		ISO	RGD:1347968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308754	Zfp653	zinc finger protein 653	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308755	Rbm25	RNA binding motif protein 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308755	Rbm25	RNA binding motif protein 25	gene	DOID:1115	sarcoma		ISO	RGD:1318710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308755	Rbm25	RNA binding motif protein 25	gene	DOID:1324	lung cancer		ISO	RGD:1318710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308755	Rbm25	RNA binding motif protein 25	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308755	Rbm25	RNA binding motif protein 25	gene	DOID:3070	high grade glioma		ISO	RGD:1318710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308755	Rbm25	RNA binding motif protein 25	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308755	Rbm25	RNA binding motif protein 25	gene	DOID:4362	cervical cancer		ISO	RGD:1318710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308755	Rbm25	RNA binding motif protein 25	gene	DOID:5041	esophageal cancer		ISO	RGD:1318710	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308755	Rbm25	RNA binding motif protein 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308755	Rbm25	RNA binding motif protein 25	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308755	Rbm25	RNA binding motif protein 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308755	Rbm25	RNA binding motif protein 25	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308756	Zbtb8a	zinc finger and BTB domain containing 8A	gene	DOID:1909	melanoma		ISO	RGD:1318711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308756	Zbtb8a	zinc finger and BTB domain containing 8A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308756	Zbtb8a	zinc finger and BTB domain containing 8A	gene	DOID:5041	esophageal cancer		ISO	RGD:1318711	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308756	Zbtb8a	zinc finger and BTB domain containing 8A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308757	Hgd	homogentisate 1, 2-dioxygenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308757	Hgd	homogentisate 1, 2-dioxygenase	gene	DOID:4362	cervical cancer		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308757	Hgd	homogentisate 1, 2-dioxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308757	Hgd	homogentisate 1, 2-dioxygenase	gene	DOID:630	genetic disease		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1308757	Hgd	homogentisate 1, 2-dioxygenase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10594001|PMID:12501223|PMID:12872836|PMID:18945288|PMID:19862842|PMID:25681086|PMID:25741868|PMID:28492532
1308757	Hgd	homogentisate 1, 2-dioxygenase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308757	Hgd	homogentisate 1, 2-dioxygenase	gene	DOID:9006065	Arthralgia		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	
1308757	Hgd	homogentisate 1, 2-dioxygenase	gene	DOID:9006239	Alkaptonuric Ochronosis		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alkaptonuric ochronosis	PMID:19862842|PMID:23430897|PMID:25681086|PMID:25741868|PMID:28492532
1308757	Hgd	homogentisate 1, 2-dioxygenase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10594001|PMID:12501223|PMID:12872836|PMID:18945288|PMID:19862842|PMID:25681086|PMID:25741868|PMID:28492532
1308757	Hgd	homogentisate 1, 2-dioxygenase	gene	DOID:9270	alkaptonuria		ISO	RGD:1318713	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308757	Hgd	homogentisate 1, 2-dioxygenase	gene	DOID:9270	alkaptonuria		ISO	RGD:1318713	D	RGD:1599472|PMID:8782815	20070205	RGD			
1308757	Hgd	homogentisate 1, 2-dioxygenase	gene	DOID:9270	alkaptonuria		ISO	RGD:1318713	D	RGD:7240710	20130221	OMIM			
1308757	Hgd	homogentisate 1, 2-dioxygenase	gene	DOID:9270	alkaptonuria		ISO	RGD:1318713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALKAPTONURIA | ClinVar Annotator: match by term: Alkaptonuria | ClinVar Annotator: match by term: HGD-related condition | ClinVar Annotator: match by term: Homogentisic acidura | ClinVar Annotator: match by term: alkaptonuria	PMID:1001939|PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:10819641|PMID:10970188|PMID:11001939|PMID:11017803|PMID:12051967|PMID:12114497|PMID:12501223|PMID:12872836|PMID:14978662|PMID:15|PMID:16085442|PMID:16199547|PMID:17576681|PMID:18945288|PMID:19306858|PMID:19862842|PMID:2018|PMID:20462779|PMID:2114497|PMID:21437689|PMID:21720873|PMID:21822197|PMID:23092576|PMID:23353776|PMID:23430897|PMID:23519186|PMID:24233259|PMID:24575791|PMID:2501223|PMID:25153563|PMID:25233259|PMID:25525159|PMID:25681086|PMID:25741868|PMID:25804398|PMID:26960557|PMID:27026014|PMID:28492532|PMID:30737480|PMID:31927521|PMID:32212000|PMID:33621656|PMID:33746036|PMID:34008892|PMID:34504318|PMID:34686677|PMID:35550814|PMID:36253209|PMID:37658095|PMID:8782815|PMID:9154114|PMID:9529363|PMID:9536098|PMID:9630082|PMID:9674916
1308757	Hgd	homogentisate 1, 2-dioxygenase	gene	DOID:9270	alkaptonuria		ISS	RGD:1318714	D	RGD:13592920	20230718	MouseDO		OMIM:203500	
1308758	Igsf11	immunoglobulin superfamily, member 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308758	Igsf11	immunoglobulin superfamily, member 11	gene	DOID:1115	sarcoma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308758	Igsf11	immunoglobulin superfamily, member 11	gene	DOID:3070	high grade glioma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308758	Igsf11	immunoglobulin superfamily, member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308758	Igsf11	immunoglobulin superfamily, member 11	gene	DOID:6039	uveal melanoma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308758	Igsf11	immunoglobulin superfamily, member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318717	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:10534	stomach cancer		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:1059	intellectual disability		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:10629	microphthalmia		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:10907	microcephaly		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:11725	Cornelia de Lange syndrome		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: De Lange syndrome	PMID:25741868
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:12270	coloboma		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:25741868
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:1891	optic nerve disease		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:1909	melanoma		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:3070	high grade glioma		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:420	hypertrichosis		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:4362	cervical cancer		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1318717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:674	cleft palate		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:8927	learning disability		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308759	Mau2	MAU2 sister chromatid cohesion factor	gene	DOID:9009447	Cornelia de Lange syndrome 7		ISO	RGD:1318717	D	RGD:7240710	20260812	OMIM			
1308760	Pcdhb1	protocadherin beta 1	gene	DOID:10283	prostate cancer		ISO	RGD:1318719	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	ISO	RGD:1318721	D	RGD:127285648|PMID:27184481	20210624	RGD		protein:decreased expression:colon, nucleus	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0060997	rhabdoid tumor predisposition syndrome 2		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0070045	Coffin-Siris syndrome 3		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3	PMID:11161377|PMID:22426308|PMID:23196062|PMID:23637025|PMID:23906836|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25462860|PMID:25741868|PMID:25981829|PMID:26364901|PMID:26987750|PMID:28177878|PMID:28492532|PMID:29230670|PMID:30555950|PMID:31273213|PMID:33006724|PMID:33249554|PMID:35101336
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0070045	Coffin-Siris syndrome 3	susceptibility	ISO	RGD:1318721	D	RGD:7240710	20260812	OMIM			
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0070480	schwannomatosis 1		ISO	RGD:1318721	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SCHWANNOMATOSIS 1 | ClinVar Annotator: match by term: SCHWANNOMATOSIS 1, SOMATIC | ClinVar Annotator: match by term: SMARCB1-related schwannomatosis | ClinVar Annotator: match by term: SWNTS1 | ClinVar Annotator: match by term: Schwannomatosis 1	PMID:10521299|PMID:17357086|PMID:18072270|PMID:18285426|PMID:18414213|PMID:18647326|PMID:19582488|PMID:20930055|PMID:21208904|PMID:21255467|PMID:22038540|PMID:22434358|PMID:22949514|PMID:24362817|PMID:24740647|PMID:24933152|PMID:25631985|PMID:25741868|PMID:26073604|PMID:27993330|PMID:28368924|PMID:28492532|PMID:29409008|PMID:34747535
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0070480	schwannomatosis 1	susceptibility	ISO	RGD:1318721	D	RGD:7240710	20260812	OMIM			
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0070618	rhabdoid tumor predisposition syndrome 1		ISO	RGD:1318721	D	RGD:11554173	20241105	CTD		CTD Direct Evidence: marker/mechanism	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0070618	rhabdoid tumor predisposition syndrome 1		ISO	RGD:1318721	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial Posterior Fossa Brain Tumor of Infancy | ClinVar Annotator: match by term: MALIGNANT RHABDOID TUMOR, SOMATIC | ClinVar Annotator: match by term: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: TERATOID TUMOR, ATYPICAL	PMID:10521299|PMID:12226744|PMID:17576681|PMID:18414213|PMID:21208904|PMID:24123847|PMID:25741868|PMID:27380723|PMID:28492532|PMID:29617669|PMID:35101336|PMID:9536098
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0070618	rhabdoid tumor predisposition syndrome 1	susceptibility	ISO	RGD:1318721	D	RGD:7240710	20260812	OMIM			
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adenoid cystic carcinoma	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0080799	sinonasal undifferentiated carcinoma		ISO	RGD:1318721	D	RGD:127285653|PMID:30120966	20210624	RGD			
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:23906836|PMID:25741868|PMID:28492532|PMID:33006724
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:0111252	vestibular schwannomatosis		ISO	RGD:1318721	D	RGD:151708708|PMID:28365909	20220414	RGD		DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:1059	intellectual disability		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:23906836|PMID:25741868|PMID:28492532|PMID:33006724
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:10907	microcephaly		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:12689	acoustic neuroma		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acoustic neuroma	PMID:17576681|PMID:18647326|PMID:28492532|PMID:9536098
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:23906836|PMID:25741868|PMID:28492532|PMID:33006724
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:1826	epilepsy		ISO	RGD:1318721	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Epilepsy	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:1909	melanoma		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1318721	D	RGD:11554173	20221108	CTD		CTD Direct Evidence: marker/mechanism	PMID:22426308
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1318721	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome	PMID:10521299|PMID:16199547|PMID:18072270|PMID:18285426|PMID:18647326|PMID:21108436|PMID:21208904|PMID:22434358|PMID:22949514|PMID:24933152|PMID:25631985|PMID:25741868|PMID:27993330|PMID:28368924|PMID:28492532|PMID:34747535
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:2129	atypical teratoid rhabdoid tumor		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor | ClinVar Annotator: match by term: TERATOID TUMOR, ATYPICAL	PMID:22797305|PMID:23074045|PMID:25741868|PMID:26923874|PMID:27993330|PMID:9671307|PMID:9892189
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:2129	atypical teratoid rhabdoid tumor		ISS	RGD:1318722	D	RGD:13592920	20230718	MouseDO		OMIM:609322	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:3081	cystic lymphangioma		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:3192	neurilemmoma		ISO	RGD:1318721	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Schwannoma	PMID:17576681|PMID:18072270|PMID:18285426|PMID:18647326|PMID:22434358|PMID:22949514|PMID:24933152|PMID:25631985|PMID:25741868|PMID:27993330|PMID:28368924|PMID:28492532|PMID:34747535|PMID:9536098
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:3204	schwannomatosis		ISO	RGD:1318721	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24362817
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:3204	schwannomatosis		ISO	RGD:1318721	D	RGD:151708704|PMID:29409008	20220414	RGD		DNA:multiple:multiple (human)	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:3204	schwannomatosis		ISO	RGD:1318721	D	RGD:151708708|PMID:28365909	20220414	RGD		DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:3204	schwannomatosis		ISO	RGD:1318721	D	RGD:155804288|PMID:22038540	20230116	RGD		DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human)	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:3204	schwannomatosis		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: schwannomatosis	PMID:25741868
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:3565	meningioma		ISO	RGD:1318721	D	RGD:155804288|PMID:22038540	20230116	RGD		DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human)	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:3565	meningioma		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:23906836|PMID:25168959|PMID:25741868|PMID:26364901|PMID:27993330|PMID:28492532|PMID:31273213|PMID:35101336|PMID:39117575
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:3672	rhabdoid cancer		ISO	RGD:1318721	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25009291|PMID:26343384
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:3672	rhabdoid cancer		ISO	RGD:1318721	D	RGD:155804291|PMID:16528370	20230116	RGD		protein:decreased expression:brain, kidney, soft tissue:	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:3672	rhabdoid cancer		ISO	RGD:1318721	D	RGD:1599055|PMID:9671307	20070115	RGD		DNA:nonsense mutation, deletions, insertions:multiple (human)	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318721	D	RGD:155804290|PMID:29218250	20230116	RGD		mRNA,protein:decreased expression:kidney:	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:5119	ovarian cyst	susceptibility	ISO	RGD:1318722	D	RGD:155804292|PMID:29684361	20230116	RGD			
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:5485	synovial sarcoma		ISO	RGD:1318721	D	RGD:11069485|PMID:26520417	20210624	RGD			
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:6193	epithelioid sarcoma		ISO	RGD:1318721	D	RGD:155804293|PMID:19033866	20230116	RGD		protein:decreased expression:epithelial cell:	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:630	genetic disease		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22726846|PMID:28120103
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1318721	D	RGD:127285647|PMID:27111394	20210624	RGD		mRNA:decreased expression:liver	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:8927	learning disability		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:18285426|PMID:23906836|PMID:25741868|PMID:28492532|PMID:33006724
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9005077	Joint Instability		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:23906836|PMID:25741868|PMID:28492532|PMID:33006724
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318721	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10521299|PMID:10739763|PMID:11161377|PMID:12892231|PMID:15769941|PMID:17357086|PMID:17576681|PMID:18285426|PMID:18414213|PMID:18647326|PMID:18676838|PMID:21108436|PMID:21208904|PMID:21255467|PMID:22426308|PMID:22434358|PMID:22949514|PMID:23196062|PMID:23637025|PMID:23906836|PMID:24362817|PMID:24728327|PMID:24740647|PMID:24933152|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25462860|PMID:25631985|PMID:25741868|PMID:25981829|PMID:26073604|PMID:26364901|PMID:26987750|PMID:27380723|PMID:28177878|PMID:28365909|PMID:28492532|PMID:28873162|PMID:29230670|PMID:29409008|PMID:29517885|PMID:29617669|PMID:29641532|PMID:29706634|PMID:30032850|PMID:31273213|PMID:32218533|PMID:33024572|PMID:34308366|PMID:34747535|PMID:9536098|PMID:9892189
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318721	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10521299|PMID:10739763|PMID:11161377|PMID:12892231|PMID:15769941|PMID:17357086|PMID:17576681|PMID:18285426|PMID:18414213|PMID:18647326|PMID:18676838|PMID:19582488|PMID:21108436|PMID:21208904|PMID:21255467|PMID:22426308|PMID:22434358|PMID:22949514|PMID:23196062|PMID:23637025|PMID:23906836|PMID:24362817|PMID:24728327|PMID:24740647|PMID:24933152|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25462860|PMID:25631985|PMID:25741868|PMID:25981829|PMID:26073604|PMID:26364901|PMID:26987750|PMID:27380723|PMID:28177878|PMID:28365909|PMID:28492532|PMID:28873162|PMID:29230670|PMID:29409008|PMID:29517885|PMID:29617669|PMID:29625052|PMID:29641532|PMID:29706634|PMID:30032850|PMID:31273213|PMID:32218533|PMID:33024572|PMID:34308366|PMID:34747535|PMID:37500730|PMID:9536098|PMID:9892189
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10521299|PMID:12892231|PMID:15769941|PMID:17576681|PMID:18285426|PMID:18414213|PMID:18647326|PMID:18676838|PMID:19582488|PMID:21108436|PMID:21208904|PMID:22434358|PMID:22949514|PMID:23906836|PMID:24362817|PMID:24933152|PMID:25741868|PMID:26073604|PMID:26364901|PMID:27380723|PMID:28365909|PMID:28492532|PMID:29617669|PMID:29641532|PMID:29706634|PMID:29907796|PMID:30555950|PMID:31273213|PMID:32218533|PMID:33470921|PMID:34003336|PMID:35101336|PMID:37500730|PMID:38963150|PMID:9536098
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318721	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10521299|PMID:12892231|PMID:15769941|PMID:17576681|PMID:18072270|PMID:18285426|PMID:18414213|PMID:18647326|PMID:18676838|PMID:21108436|PMID:21208904|PMID:22434358|PMID:22949514|PMID:23906836|PMID:24362817|PMID:24933152|PMID:25631985|PMID:25741868|PMID:26073604|PMID:26364901|PMID:27380723|PMID:27993330|PMID:28365909|PMID:28368924|PMID:28492532|PMID:29617669|PMID:29641532|PMID:29706634|PMID:29907796|PMID:30555950|PMID:31273213|PMID:32218533|PMID:33470921|PMID:34003336|PMID:34747535|PMID:35101336|PMID:37500730|PMID:38963150|PMID:9536098
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23906836|PMID:25741868|PMID:28492532|PMID:33006724
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9008350	NATURAL KILLER CELL ENTEROPATHY		ISO	RGD:1318721	D	RGD:8554872	20200121	ClinVar		ClinVar Annotator: match by term: Natural killer cell enteropathy	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1318721	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:10521299|PMID:21208904|PMID:25741868|PMID:28492532
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:93	language disorder		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	
1308761	Smarcb1	SWI/SNF related BAF chromatin remodeling complex subunit B1	gene	DOID:9649	congenital nystagmus		ISO	RGD:1318721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:23906836|PMID:25741868|PMID:28492532|PMID:33006724
1308763	Cmtm3	CKLF-like MARVEL transmembrane domain containing 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318724	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308764	Psph	phosphoserine phosphatase	gene	DOID:0050721	serine deficiency		ISO	RGD:1318726	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: neurometabolic disorder due to serine deficiency	PMID:24033266|PMID:25741868
1308764	Psph	phosphoserine phosphatase	gene	DOID:0050724	PSPH deficiency		ISO	RGD:1318726	D	RGD:7240710	20140911	OMIM			
1308764	Psph	phosphoserine phosphatase	gene	DOID:0050724	PSPH deficiency		ISO	RGD:1318726	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PHOSPHOSERINE PHOSPHATASE DEFICIENCY | ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: PSPH-related condition	PMID:25741868|PMID:28492532
1308764	Psph	phosphoserine phosphatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308764	Psph	phosphoserine phosphatase	gene	DOID:10534	stomach cancer		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308764	Psph	phosphoserine phosphatase	gene	DOID:1059	intellectual disability		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:14673469|PMID:25741868
1308764	Psph	phosphoserine phosphatase	gene	DOID:10907	microcephaly		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:14673469|PMID:25741868
1308764	Psph	phosphoserine phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308764	Psph	phosphoserine phosphatase	gene	DOID:12849	autistic disorder		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:14673469|PMID:25741868
1308764	Psph	phosphoserine phosphatase	gene	DOID:1826	epilepsy		ISO	RGD:1318726	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	
1308764	Psph	phosphoserine phosphatase	gene	DOID:1826	epilepsy		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:14673469|PMID:25741868
1308764	Psph	phosphoserine phosphatase	gene	DOID:1909	melanoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308764	Psph	phosphoserine phosphatase	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1318726	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta	PMID:28492532
1308764	Psph	phosphoserine phosphatase	gene	DOID:3275	thymoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308764	Psph	phosphoserine phosphatase	gene	DOID:4362	cervical cancer		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308764	Psph	phosphoserine phosphatase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308764	Psph	phosphoserine phosphatase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308764	Psph	phosphoserine phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308764	Psph	phosphoserine phosphatase	gene	DOID:6039	uveal melanoma		ISO	RGD:1318726	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308764	Psph	phosphoserine phosphatase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308764	Psph	phosphoserine phosphatase	gene	DOID:630	genetic disease		ISO	RGD:1318726	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
1308764	Psph	phosphoserine phosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308764	Psph	phosphoserine phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308764	Psph	phosphoserine phosphatase	gene	DOID:9008397	Maternal Phenylketonuria		IEP		D	RGD:2308873|PMID:7201630	20090612	RGD			
1308764	Psph	phosphoserine phosphatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308764	Psph	phosphoserine phosphatase	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:1318726	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14673469
1308766	Irf9	interferon regulatory factor 9	gene	DOID:0111978	immunodeficiency 65		ISO	RGD:1318730	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS | ClinVar Annotator: match by term: IRF9-related condition | ClinVar Annotator: match by term: Immunodeficiency 65, susceptibility to viral infections	PMID:25741868|PMID:28492532
1308766	Irf9	interferon regulatory factor 9	gene	DOID:0111978	immunodeficiency 65	susceptibility	ISO	RGD:1318730	D	RGD:7240710	20191127	OMIM			
1308766	Irf9	interferon regulatory factor 9	gene	DOID:10534	stomach cancer		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308766	Irf9	interferon regulatory factor 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308766	Irf9	interferon regulatory factor 9	gene	DOID:1168	familial hyperlipidemia		IEP		D	RGD:125093744|PMID:32462510	20210330	RGD		associated with acute pancreatitis;protein:increased expression:kidney	
1308766	Irf9	interferon regulatory factor 9	gene	DOID:11984	hypertrophic cardiomyopathy	ameliorates	ISO	RGD:1318731	D	RGD:125093743|PMID:24144649	20210330	RGD			
1308766	Irf9	interferon regulatory factor 9	gene	DOID:11984	hypertrophic cardiomyopathy	exacerbates	ISO	RGD:1318731	D	RGD:125093743|PMID:24144649	20210330	RGD			
1308766	Irf9	interferon regulatory factor 9	gene	DOID:12155	lymphocytic choriomeningitis		ISO	RGD:1318731	D	RGD:124715479|PMID:24760883	20210326	RGD			
1308766	Irf9	interferon regulatory factor 9	gene	DOID:12155	lymphocytic choriomeningitis	ameliorates	ISO	RGD:1318731	D	RGD:124715469|PMID:22496215	20210325	RGD			
1308766	Irf9	interferon regulatory factor 9	gene	DOID:12155	lymphocytic choriomeningitis	disease_progression	ISO	RGD:1318731	D	RGD:124715467|PMID:28878077	20210325	RGD		DNA:mutation: :	
1308766	Irf9	interferon regulatory factor 9	gene	DOID:1324	lung cancer		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308766	Irf9	interferon regulatory factor 9	gene	DOID:1883	hepatitis C		ISO	RGD:1318730	D	RGD:11074283|PMID:26216956	20210326	RGD		protein:increased expression:liver	
1308766	Irf9	interferon regulatory factor 9	gene	DOID:2913	acute pancreatitis		IEP		D	RGD:125093744|PMID:32462510	20210330	RGD		mRNA,protein:increased expression:kidney	
1308766	Irf9	interferon regulatory factor 9	gene	DOID:4362	cervical cancer		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308766	Irf9	interferon regulatory factor 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308766	Irf9	interferon regulatory factor 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308766	Irf9	interferon regulatory factor 9	gene	DOID:8704	genital herpes	exacerbates	ISO	RGD:1318731	D	RGD:125093738|PMID:28264883	20210329	RGD			
1308766	Irf9	interferon regulatory factor 9	gene	DOID:9000099	Experimental Colitis	ameliorates	ISO	RGD:1318731	D	RGD:124715468|PMID:25918247	20210325	RGD			
1308766	Irf9	interferon regulatory factor 9	gene	DOID:9000438	Subarachnoid Hemorrhage	ameliorates	IMP		D	RGD:125093745|PMID:29480757	20210330	RGD			
1308766	Irf9	interferon regulatory factor 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308766	Irf9	interferon regulatory factor 9	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1318730	D	RGD:125093742|PMID:25150882	20210330	RGD		protein:increased expression:left ventricular  free wall	
1308766	Irf9	interferon regulatory factor 9	gene	DOID:9007838	Myocardial Reperfusion Injury	ameliorates	ISO	RGD:1318731	D	RGD:125093742|PMID:25150882	20210330	RGD			
1308766	Irf9	interferon regulatory factor 9	gene	DOID:9007838	Myocardial Reperfusion Injury	exacerbates	ISO	RGD:1318731	D	RGD:125093742|PMID:25150882	20210330	RGD			
1308766	Irf9	interferon regulatory factor 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:10534	stomach cancer		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:1059	intellectual disability		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:1115	sarcoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:1324	lung cancer		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:1909	melanoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:2394	ovarian cancer		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:3070	high grade glioma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:4362	cervical cancer		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:9003133	Hypertelorism		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:9007573	Flatfoot		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308767	Dhx36	DEAH-box helicase 36	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308768	Slurp1	secreted Ly6/Plaur domain containing 1	gene	DOID:0060862	mal de Meleda		ISO	RGD:1346067	D	RGD:7240710	20210303	OMIM			
1308768	Slurp1	secreted Ly6/Plaur domain containing 1	gene	DOID:0060862	mal de Meleda		ISO	RGD:1346067	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MAL DE MELEDA | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA, GAMBORG NIELSEN TYPE | ClinVar Annotator: match by term: SLURP1-related condition | ClinVar Annotator: match by term: mal de Meleda	PMID:11285253|PMID:12483299|PMID:12603845|PMID:17008884|PMID:23290002|PMID:24033266|PMID:24604124|PMID:25741868|PMID:28492532|PMID:31944258
1308768	Slurp1	secreted Ly6/Plaur domain containing 1	gene	DOID:0060862	mal de Meleda		ISS	RGD:1551559	D	RGD:13592920	20230718	MouseDO		OMIM:248300	
1308768	Slurp1	secreted Ly6/Plaur domain containing 1	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:1346067	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25168896
1308768	Slurp1	secreted Ly6/Plaur domain containing 1	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:1346067	D	RGD:1599051|PMID:11285253	20070115	RGD		DNA:frameshift mutation, nonsense mutation, snp:cds, intron:p.C28fs32X, p.R96X, IVS2+1G>A (human)	
1308768	Slurp1	secreted Ly6/Plaur domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1318735	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:24084170
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1318735	D	RGD:1331525|PMID:15118671	19990101	GAD			
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1318735	D	RGD:1599876|PMID:2234061	20070220	RGD			
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1318735	D	RGD:7246919|PMID:22824526	20130626	RGD			
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1318735	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum	PMID:1372103|PMID:15214909|PMID:21148310|PMID:24135642|PMID:25741868|PMID:26743599|PMID:27603812|PMID:27607234|PMID:28492532|PMID:29208038|PMID:34374989|PMID:7876263|PMID:8105686|PMID:8541864|PMID:9671271
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:0110843	xeroderma pigmentosum group A		ISO	RGD:1318735	D	RGD:7240710	20180418	OMIM			
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:0110843	xeroderma pigmentosum group A		ISO	RGD:1318735	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: XP, group A | ClinVar Annotator: match by term: XPA-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum group A | ClinVar Annotator: match by term: Xeroderma pigmentosum, group A	PMID:10408173|PMID:1339397|PMID:1372102|PMID:1372103|PMID:15214909|PMID:1601884|PMID:16199547|PMID:16905156|PMID:1702221|PMID:17576681|PMID:18414213|PMID:20054342|PMID:20199544|PMID:20534089|PMID:20574439|PMID:22081045|PMID:2234061|PMID:23194742|PMID:24063568|PMID:24135642|PMID:24704021|PMID:24757057|PMID:25256075|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26743599|PMID:26884178|PMID:27413738|PMID:27607234|PMID:27982466|PMID:28492532|PMID:29208038|PMID:31478152|PMID:35178751|PMID:35687855|PMID:36893274|PMID:39129919|PMID:39621777|PMID:7577588|PMID:8105686|PMID:8765158|PMID:9536098|PMID:9671271
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:0110843	xeroderma pigmentosum group A		ISS	RGD:1318736	D	RGD:13592920	20230718	MouseDO		OMIM:278700	
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:10534	stomach cancer		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:1115	sarcoma		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1318735	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17687452
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma	
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1318736	D	RGD:10401087|PMID:19114557	20150924	RGD			
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1318735	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:630	genetic disease		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26743599|PMID:26884178
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:1318735	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16962818
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1318735	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10755388|PMID:16962818
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1318735	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9885240|PMID:21216194
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1318735	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:24084170
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308769	Xpa	XPA, DNA damage recognition and repair factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308770	Mrps25	mitochondrial ribosomal protein S25	gene	DOID:0112111	combined oxidative phosphorylation deficiency 50		ISO	RGD:1318737	D	RGD:7240710	20200930	OMIM			
1308770	Mrps25	mitochondrial ribosomal protein S25	gene	DOID:0112111	combined oxidative phosphorylation deficiency 50		ISO	RGD:1318737	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 50	
1308770	Mrps25	mitochondrial ribosomal protein S25	gene	DOID:10534	stomach cancer		ISO	RGD:1318737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308770	Mrps25	mitochondrial ribosomal protein S25	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308770	Mrps25	mitochondrial ribosomal protein S25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308770	Mrps25	mitochondrial ribosomal protein S25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:0050567	orofacial cleft		ISO	RGD:1604630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonsyndromic cleft lip palate	PMID:25741868
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:0060896	Parkinson's disease 23		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 23	PMID:25741868
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:0061110	retinitis pigmentosa 97		ISO	RGD:1604630	D	RGD:7240710	20230726	OMIM			
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:0061110	retinitis pigmentosa 97		ISO	RGD:1604630	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 97	PMID:25741868|PMID:37012052
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:1115	sarcoma		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:12849	autistic disorder		ISO	RGD:1604630	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20663923
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:1324	lung cancer		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:1909	melanoma		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:3275	thymoma		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1604630	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604630	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:34660594|PMID:36937954
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308772	Vwa8	von Willebrand factor A domain containing 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308774	Slc25a40	solute carrier family 25, member 40	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308774	Slc25a40	solute carrier family 25, member 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308774	Slc25a40	solute carrier family 25, member 40	gene	DOID:10534	stomach cancer		ISO	RGD:1607018	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308774	Slc25a40	solute carrier family 25, member 40	gene	DOID:1324	lung cancer		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308774	Slc25a40	solute carrier family 25, member 40	gene	DOID:2394	ovarian cancer		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308774	Slc25a40	solute carrier family 25, member 40	gene	DOID:4362	cervical cancer		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308774	Slc25a40	solute carrier family 25, member 40	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308774	Slc25a40	solute carrier family 25, member 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308774	Slc25a40	solute carrier family 25, member 40	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308775	C14h5orf52	similar to human chromosome 5 open reading frame 52	gene	DOID:1324	lung cancer		ISO	RGD:2303474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308775	C14h5orf52	similar to human chromosome 5 open reading frame 52	gene	DOID:9256	colorectal cancer		ISO	RGD:2303474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308776	Capsl	calcyphosine-like	gene	DOID:0050535	exudative vitreoretinopathy		ISS	RGD:1552171	D	RGD:13592920	20250605	MouseDO			
1308776	Capsl	calcyphosine-like	gene	DOID:12849	autistic disorder		ISO	RGD:1601932	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1308776	Capsl	calcyphosine-like	gene	DOID:4362	cervical cancer		ISO	RGD:1601932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308776	Capsl	calcyphosine-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308776	Capsl	calcyphosine-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308777	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308777	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308777	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308777	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1318746	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1308777	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1318746	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
1308777	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308777	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308777	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308777	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308777	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308777	Numa1	nuclear mitotic apparatus protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308778	Upf3a	UPF3A, regulator of nonsense mediated mRNA decay	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308778	Upf3a	UPF3A, regulator of nonsense mediated mRNA decay	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308778	Upf3a	UPF3A, regulator of nonsense mediated mRNA decay	gene	DOID:4362	cervical cancer		ISO	RGD:1318748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308778	Upf3a	UPF3A, regulator of nonsense mediated mRNA decay	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318748	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308778	Upf3a	UPF3A, regulator of nonsense mediated mRNA decay	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308778	Upf3a	UPF3A, regulator of nonsense mediated mRNA decay	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318748	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308778	Upf3a	UPF3A, regulator of nonsense mediated mRNA decay	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308778	Upf3a	UPF3A, regulator of nonsense mediated mRNA decay	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308778	Upf3a	UPF3A, regulator of nonsense mediated mRNA decay	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308779	Chmp7	charged multivesicular body protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308779	Chmp7	charged multivesicular body protein 7	gene	DOID:1909	melanoma		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308779	Chmp7	charged multivesicular body protein 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308779	Chmp7	charged multivesicular body protein 7	gene	DOID:3275	thymoma		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308779	Chmp7	charged multivesicular body protein 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308779	Chmp7	charged multivesicular body protein 7	gene	DOID:4362	cervical cancer		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308779	Chmp7	charged multivesicular body protein 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308779	Chmp7	charged multivesicular body protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308779	Chmp7	charged multivesicular body protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308779	Chmp7	charged multivesicular body protein 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308781	Septin4	septin 4	gene	DOID:0070728	spermatogenic failure 99		ISO	RGD:1349607	D	RGD:7240710	20250529	OMIM			
1308781	Septin4	septin 4	gene	DOID:0070728	spermatogenic failure 99		ISO	RGD:1349607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 99	
1308781	Septin4	septin 4	gene	DOID:12217	Lewy body dementia		ISO	RGD:1349607	D	RGD:13504670|PMID:12695511	20180116	RGD			
1308781	Septin4	septin 4	gene	DOID:14330	Parkinson's disease		ISO	RGD:1349607	D	RGD:13504670|PMID:12695511	20180116	RGD			
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:0050475	Weill-Marchesani syndrome		ISS	RGD:1318756	D	RGD:13592920	20180518	MouseDO		OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819	
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:0050581	brachydactyly		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:0060249	scoliosis		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:1318756	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Anterior segment dysgenesis	PMID:19836009|PMID:24940034|PMID:28492532|PMID:32499604
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:0061276	Weill-Marchesani syndrome 4		ISO	RGD:1318756	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:0061276	Weill-Marchesani syndrome 4		ISO	RGD:1318756	D	RGD:7240710	20130221	OMIM			
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:0061276	Weill-Marchesani syndrome 4		ISO	RGD:1318756	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADAMTS17-related condition | ClinVar Annotator: match by term: WEILL-MARCHESANI SYNDROME 4 | ClinVar Annotator: match by term: Weill-Marchesani syndrome 4	PMID:19836009|PMID:25741868|PMID:28492532
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:10534	stomach cancer		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:12401864	D	RGD:9068941	20230824	OMIA		Glaucoma, primary open angle, ADAMTS17-related	PMID:26277300|PMID:26456751|PMID:26474315|PMID:26683476|PMID:26945802|PMID:27192202|PMID:27681326|PMID:28176809|PMID:29287154|PMID:31131111|PMID:37582787
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:11830	myopia		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:1324	lung cancer		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:1686	glaucoma		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:25741868
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:1909	melanoma		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:3275	thymoma		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1318756	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868|PMID:28492532
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:6039	uveal melanoma		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:630	genetic disease		ISO	RGD:1318756	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:9001251	Microspherophakia		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microspherophakia	PMID:25741868
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1318756	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:9007661	Dwarfism		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1308783	Adamts17	ADAM metallopeptidase with thrombospondin type 1 motif, 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308784	Tnks	tankyrase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308784	Tnks	tankyrase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308784	Tnks	tankyrase	gene	DOID:10534	stomach cancer		ISO	RGD:1343497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308784	Tnks	tankyrase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308784	Tnks	tankyrase	gene	DOID:3275	thymoma		ISO	RGD:1343497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308784	Tnks	tankyrase	gene	DOID:4362	cervical cancer		ISO	RGD:1343497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308784	Tnks	tankyrase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308784	Tnks	tankyrase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308784	Tnks	tankyrase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308784	Tnks	tankyrase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308784	Tnks	tankyrase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308784	Tnks	tankyrase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308784	Tnks	tankyrase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308785	Raet1l	retinoic acid early transcript 1L	gene	DOID:9004283	Transplant Rejection		IEP		D	RGD:9685184|PMID:20306467	20141222	RGD			
1308787	Elfn1	extracellular leucine-rich repeat and fibronectin type III domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1642766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308787	Elfn1	extracellular leucine-rich repeat and fibronectin type III domain containing 1	gene	DOID:0070792	Dursun-Ozgul neurodevelopmental syndrome		ISO	RGD:1642766	D	RGD:7240710	20260805	OMIM			
1308787	Elfn1	extracellular leucine-rich repeat and fibronectin type III domain containing 1	gene	DOID:0070792	Dursun-Ozgul neurodevelopmental syndrome		ISO	RGD:1642766	D	RGD:8554872	20260804	ClinVar		ClinVar Annotator: match by term: DURSUN-OZGUL NEURODEVELOPMENTAL SYNDROME	PMID:24312227
1308787	Elfn1	extracellular leucine-rich repeat and fibronectin type III domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1642766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308787	Elfn1	extracellular leucine-rich repeat and fibronectin type III domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1642766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308787	Elfn1	extracellular leucine-rich repeat and fibronectin type III domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1642766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308787	Elfn1	extracellular leucine-rich repeat and fibronectin type III domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1642766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308788	Ripply3	ripply transcriptional repressor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308788	Ripply3	ripply transcriptional repressor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308788	Ripply3	ripply transcriptional repressor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308789	Jph1	junctophilin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308789	Jph1	junctophilin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308789	Jph1	junctophilin 1	gene	DOID:0061256	congenital myopathy 25		ISO	RGD:1318763	D	RGD:7240710	20241009	OMIM			
1308789	Jph1	junctophilin 1	gene	DOID:0061256	congenital myopathy 25		ISO	RGD:1318763	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 25	PMID:25741868
1308789	Jph1	junctophilin 1	gene	DOID:0081337	congenital myopathy		ISO	RGD:1318763	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital Myopathy	PMID:25741868
1308789	Jph1	junctophilin 1	gene	DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K		ISO	RGD:1318763	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308789	Jph1	junctophilin 1	gene	DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K		ISO	RGD:1318763	D	RGD:7240710	20151216	OMIM			
1308789	Jph1	junctophilin 1	gene	DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K		ISO	RGD:1318763	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K	PMID:25741868
1308789	Jph1	junctophilin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308789	Jph1	junctophilin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308789	Jph1	junctophilin 1	gene	DOID:3275	thymoma		ISO	RGD:1318763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308789	Jph1	junctophilin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318763	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308789	Jph1	junctophilin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308789	Jph1	junctophilin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308789	Jph1	junctophilin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1318766	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318766	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121791
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:1115	sarcoma		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:1324	lung cancer		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:2661	myoepithelioma		ISO	RGD:1318766	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:3275	thymoma		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1318766	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318766	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308791	Smc1b	structural maintenance of chromosomes 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308792	Lins1	lines homolog 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
1308792	Lins1	lines homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308792	Lins1	lines homolog 1	gene	DOID:0060249	scoliosis		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:28492532
1308792	Lins1	lines homolog 1	gene	DOID:0060313	tracheomalacia		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:28492532
1308792	Lins1	lines homolog 1	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	
1308792	Lins1	lines homolog 1	gene	DOID:0081193	autosomal recessive intellectual developmental disorder 27		ISO	RGD:1602699	D	RGD:7240710	20150902	OMIM			
1308792	Lins1	lines homolog 1	gene	DOID:0081193	autosomal recessive intellectual developmental disorder 27		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 27 | ClinVar Annotator: match by term: LINS1-related condition	PMID:21937992|PMID:23773660|PMID:25741868|PMID:28492532|PMID:30090841
1308792	Lins1	lines homolog 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308792	Lins1	lines homolog 1	gene	DOID:1059	intellectual disability		ISO	RGD:1602699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1308792	Lins1	lines homolog 1	gene	DOID:1059	intellectual disability		ISO	RGD:1602699	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868|PMID:28492532
1308792	Lins1	lines homolog 1	gene	DOID:10907	microcephaly		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1308792	Lins1	lines homolog 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral cryptorchidism	PMID:28492532
1308792	Lins1	lines homolog 1	gene	DOID:11830	myopia		ISO	RGD:1602699	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	
1308792	Lins1	lines homolog 1	gene	DOID:11836	clubfoot		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
1308792	Lins1	lines homolog 1	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	
1308792	Lins1	lines homolog 1	gene	DOID:12849	autistic disorder		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1308792	Lins1	lines homolog 1	gene	DOID:1324	lung cancer		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308792	Lins1	lines homolog 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1308792	Lins1	lines homolog 1	gene	DOID:1826	epilepsy		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1308792	Lins1	lines homolog 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
1308792	Lins1	lines homolog 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
1308792	Lins1	lines homolog 1	gene	DOID:540	strabismus		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1308792	Lins1	lines homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308792	Lins1	lines homolog 1	gene	DOID:630	genetic disease		ISO	RGD:1602699	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308792	Lins1	lines homolog 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:28492532
1308792	Lins1	lines homolog 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
1308792	Lins1	lines homolog 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1602699	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1308792	Lins1	lines homolog 1	gene	DOID:9004507	Hirsutism		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:28492532
1308792	Lins1	lines homolog 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532
1308792	Lins1	lines homolog 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
1308792	Lins1	lines homolog 1	gene	DOID:9004866	Ataxia		ISO	RGD:1602699	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1308792	Lins1	lines homolog 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
1308792	Lins1	lines homolog 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1602699	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes planus	
1308792	Lins1	lines homolog 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1602699	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	
1308792	Lins1	lines homolog 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1308792	Lins1	lines homolog 1	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:28492532
1308792	Lins1	lines homolog 1	gene	DOID:9840	esotropia		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:28492532
1308792	Lins1	lines homolog 1	gene	DOID:9970	obesity		ISO	RGD:1602699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1308793	Ddx4	DEAD-box helicase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308793	Ddx4	DEAD-box helicase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1318770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308793	Ddx4	DEAD-box helicase 4	gene	DOID:1115	sarcoma		ISO	RGD:1318770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308793	Ddx4	DEAD-box helicase 4	gene	DOID:12336	male infertility		ISO	RGD:1318770	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
1308793	Ddx4	DEAD-box helicase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308793	Ddx4	DEAD-box helicase 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308793	Ddx4	DEAD-box helicase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308795	Rfx7	regulatory factor X, 7	gene	DOID:0061044	autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities		ISO	RGD:1603966	D	RGD:7240710	20230505	OMIM			
1308795	Rfx7	regulatory factor X, 7	gene	DOID:0061044	autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities		ISO	RGD:1603966	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities | ClinVar Annotator: match by term: RFX7-related condition | ClinVar Annotator: match by term: intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities	PMID:25741868|PMID:28492532|PMID:33584783|PMID:33658631|PMID:39007708
1308795	Rfx7	regulatory factor X, 7	gene	DOID:10534	stomach cancer		ISO	RGD:1603966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308795	Rfx7	regulatory factor X, 7	gene	DOID:10907	microcephaly		ISO	RGD:1603966	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1308795	Rfx7	regulatory factor X, 7	gene	DOID:11830	myopia		ISO	RGD:1603966	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1308795	Rfx7	regulatory factor X, 7	gene	DOID:12849	autistic disorder		ISO	RGD:1603966	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1308795	Rfx7	regulatory factor X, 7	gene	DOID:1324	lung cancer		ISO	RGD:1603966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308795	Rfx7	regulatory factor X, 7	gene	DOID:3275	thymoma		ISO	RGD:1603966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308795	Rfx7	regulatory factor X, 7	gene	DOID:4362	cervical cancer		ISO	RGD:1603966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308795	Rfx7	regulatory factor X, 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308795	Rfx7	regulatory factor X, 7	gene	DOID:630	genetic disease		ISO	RGD:1603966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308795	Rfx7	regulatory factor X, 7	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603966	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:33584783|PMID:33658631
1308795	Rfx7	regulatory factor X, 7	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603966	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1308795	Rfx7	regulatory factor X, 7	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603966	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1308795	Rfx7	regulatory factor X, 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308795	Rfx7	regulatory factor X, 7	gene	DOID:9008023	Memory Disorders		ISO	RGD:1603966	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868
1308795	Rfx7	regulatory factor X, 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603966	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:33584783|PMID:33658631
1308795	Rfx7	regulatory factor X, 7	gene	DOID:9834	hyperopia		ISO	RGD:1603966	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1308796	Cyp4f39	cytochrome P450, family 4, subfamily f, polypeptide 39	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606166	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308796	Cyp4f39	cytochrome P450, family 4, subfamily f, polypeptide 39	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1606166	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:16436457|PMID:25741868|PMID:27025581|PMID:28492532|PMID:30011118|PMID:30600594|PMID:32069299|PMID:33024263|PMID:35014717|PMID:36332686
1308796	Cyp4f39	cytochrome P450, family 4, subfamily f, polypeptide 39	gene	DOID:0060714	autosomal recessive congenital ichthyosis 5		ISO	RGD:1606166	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308796	Cyp4f39	cytochrome P450, family 4, subfamily f, polypeptide 39	gene	DOID:0060714	autosomal recessive congenital ichthyosis 5		ISO	RGD:1606166	D	RGD:7240710	20130221	OMIM			
1308796	Cyp4f39	cytochrome P450, family 4, subfamily f, polypeptide 39	gene	DOID:0060714	autosomal recessive congenital ichthyosis 5		ISO	RGD:1606166	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 | ClinVar Annotator: match by term: CYP4F22-related condition | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Ichthyosis lamellar 3 | ClinVar Annotator: match by term: Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive	PMID:16199547|PMID:16436457|PMID:18034255|PMID:22992804|PMID:23621129|PMID:23871423|PMID:24397709|PMID:25741868|PMID:25998749|PMID:26056268|PMID:26646773|PMID:26762237|PMID:27025581|PMID:27449533|PMID:27735052|PMID:28492532|PMID:30011118|PMID:31625567|PMID:31642606|PMID:31876103|PMID:32069299|PMID:33067036|PMID:33223529|PMID:33786896|PMID:34908195|PMID:34983512|PMID:35014717|PMID:37075885|PMID:38588653
1308796	Cyp4f39	cytochrome P450, family 4, subfamily f, polypeptide 39	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1606166	D	RGD:8554872	20260310	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868
1308796	Cyp4f39	cytochrome P450, family 4, subfamily f, polypeptide 39	gene	DOID:3310	atopic dermatitis		ISO	RGD:1606166	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868
1308796	Cyp4f39	cytochrome P450, family 4, subfamily f, polypeptide 39	gene	DOID:4362	cervical cancer		ISO	RGD:1606166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308796	Cyp4f39	cytochrome P450, family 4, subfamily f, polypeptide 39	gene	DOID:630	genetic disease		ISO	RGD:1606166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308796	Cyp4f39	cytochrome P450, family 4, subfamily f, polypeptide 39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308796	Cyp4f39	cytochrome P450, family 4, subfamily f, polypeptide 39	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308800	Csk	C-terminal Src kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318780	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308800	Csk	C-terminal Src kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308800	Csk	C-terminal Src kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308800	Csk	C-terminal Src kinase	gene	DOID:1909	melanoma		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308800	Csk	C-terminal Src kinase	gene	DOID:2723	dermatitis		ISO	RGD:1318781	D	RGD:5134363|PMID:14975240	20110701	RGD			
1308800	Csk	C-terminal Src kinase	gene	DOID:3275	thymoma		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308800	Csk	C-terminal Src kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308800	Csk	C-terminal Src kinase	gene	DOID:552	pneumonia		ISO	RGD:1318781	D	RGD:5134363|PMID:14975240	20110701	RGD			
1308800	Csk	C-terminal Src kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308800	Csk	C-terminal Src kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318780	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308800	Csk	C-terminal Src kinase	gene	DOID:684	hepatocellular carcinoma		IEP		D	RGD:5134372|PMID:9918913	20110701	RGD		protein:decreased expression:liver	
1308800	Csk	C-terminal Src kinase	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1318780	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16769263
1308800	Csk	C-terminal Src kinase	gene	DOID:9002221	Hyperplasia		IEP		D	RGD:5134365|PMID:15961079	20110701	RGD		mRNA, protein:decreased expression:large intestine mucosa	
1308800	Csk	C-terminal Src kinase	gene	DOID:9002457	Experimental Arthritis		IMP		D	RGD:5134371|PMID:10411542	20110701	RGD			
1308800	Csk	C-terminal Src kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308800	Csk	C-terminal Src kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308800	Csk	C-terminal Src kinase	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1318780	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23042117
1308800	Csk	C-terminal Src kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308801	Nek11	NIMA-related kinase 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308801	Nek11	NIMA-related kinase 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308801	Nek11	NIMA-related kinase 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308801	Nek11	NIMA-related kinase 11	gene	DOID:1115	sarcoma		ISO	RGD:1318782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308801	Nek11	NIMA-related kinase 11	gene	DOID:1324	lung cancer		ISO	RGD:1318782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308801	Nek11	NIMA-related kinase 11	gene	DOID:1909	melanoma		ISO	RGD:1318782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308801	Nek11	NIMA-related kinase 11	gene	DOID:3275	thymoma		ISO	RGD:1318782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308801	Nek11	NIMA-related kinase 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1318782	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308801	Nek11	NIMA-related kinase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308801	Nek11	NIMA-related kinase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308801	Nek11	NIMA-related kinase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308801	Nek11	NIMA-related kinase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308801	Nek11	NIMA-related kinase 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308802	C1qtnf5	C1q and TNF related 5	gene	DOID:0060837	isolated microphthalmia 5		ISO	RGD:9832233	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Isolated microphthalmia 5	PMID:21670352
1308802	C1qtnf5	C1q and TNF related 5	gene	DOID:0060869	late-onset retinal degeneration		ISO	RGD:1318784	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308802	C1qtnf5	C1q and TNF related 5	gene	DOID:0060869	late-onset retinal degeneration		ISO	RGD:1318784	D	RGD:7240710	20130221	OMIM			
1308802	C1qtnf5	C1q and TNF related 5	gene	DOID:0060869	late-onset retinal degeneration		ISS	RGD:1553055	D	RGD:13592920	20230718	MouseDO		OMIM:605670	
1308802	C1qtnf5	C1q and TNF related 5	gene	DOID:110	lens disease		ISO	RGD:1318784	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123441
1308802	C1qtnf5	C1q and TNF related 5	gene	DOID:4448	macular degeneration		ISO	RGD:1318784	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123441
1308804	Pgrmc2	progesterone receptor membrane component 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308804	Pgrmc2	progesterone receptor membrane component 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1318787	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
1308804	Pgrmc2	progesterone receptor membrane component 2	gene	DOID:1324	lung cancer		ISO	RGD:1318787	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308804	Pgrmc2	progesterone receptor membrane component 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308805	Lysmd3	LysM domain containing 3	gene	DOID:0050742	nicotine dependence		ISO	RGD:1606178	D	RGD:11554173	20241105	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1308805	Lysmd3	LysM domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308805	Lysmd3	LysM domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308805	Lysmd3	LysM domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:0060058	lymphoma		ISO	RGD:1348204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:0111927	spermatogenic failure 37		ISO	RGD:1348204	D	RGD:7240710	20190612	OMIM			
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:0111927	spermatogenic failure 37		ISO	RGD:1348204	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 37 | ClinVar Annotator: match by term: Spermatogenic failure 37 | ClinVar Annotator: match by term: TTC21A-related condition | ClinVar Annotator: match by term: spermatogenic failure 37	PMID:25741868
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:10534	stomach cancer		ISO	RGD:1348204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:1115	sarcoma		ISO	RGD:1348204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:14228	oligospermia		ISO	RGD:1348204	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868|PMID:30929735
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:1909	melanoma		ISO	RGD:1348204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:4362	cervical cancer		ISO	RGD:1348204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:5041	esophageal cancer		ISO	RGD:1348204	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:6039	uveal melanoma		ISO	RGD:1348204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348204	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308806	Ttc21a	tetratricopeptide repeat domain 21A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308807	Flnc	filamin C	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy	PMID:25741868|PMID:28492532|PMID:32112656|PMID:34587765|PMID:37164047|PMID:38761081
1308807	Flnc	filamin C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25351925|PMID:25741868|PMID:28492532|PMID:30418145|PMID:30919686
1308807	Flnc	filamin C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:16199547|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27908349|PMID:28356264|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28781516|PMID:28866788|PMID:29706348|PMID:30086531|PMID:30411535|PMID:30418145|PMID:30847666|PMID:30919686|PMID:30996762|PMID:31245841|PMID:32112656|PMID:34411373|PMID:34587765|PMID:35026164|PMID:35276540|PMID:35470680|PMID:35653365|PMID:37164047|PMID:37280362
1308807	Flnc	filamin C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27908349|PMID:28356264|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28781516|PMID:28866788|PMID:29235529|PMID:29706348|PMID:30086531|PMID:30411535|PMID:30418145|PMID:30847666|PMID:30919686|PMID:30996762|PMID:31245841|PMID:31627847|PMID:32112656|PMID:34411373|PMID:34587765|PMID:35026164|PMID:35276540|PMID:35470680|PMID:35653365|PMID:37164047|PMID:37280362|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27296017|PMID:27908349|PMID:28213671|PMID:28356264|PMID:28492532|PMID:29235529|PMID:30411535|PMID:31627847|PMID:32112656|PMID:32746448|PMID:34535832|PMID:34587765|PMID:34949102|PMID:37164047|PMID:37466024|PMID:38761081|PMID:39472908|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:25741868|PMID:27908349|PMID:28492532|PMID:32112656|PMID:32746448
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:7240710	20130221	OMIM			
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy 5	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32160020|PMID:32165824|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36264615|PMID:36286284|PMID:37280362|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:19472918|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34440373|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:37164047|PMID:37280362|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:19472918|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34440373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37477868|PMID:37547072|PMID:37937776|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:19472918|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34440373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37937776|PMID:38473809|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:19472918|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34440373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36578016|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37937776|PMID:38116480|PMID:38473809|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:19472918|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28213671|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34440373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36575883|PMID:36578016|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37936669|PMID:37937776|PMID:38116480|PMID:38379651|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:19472918|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28213671|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31069529|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33673806|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34440373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35352813|PMID:35463915|PMID:35470680|PMID:35653365|PMID:35838873|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36204818|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36396199|PMID:36575883|PMID:36578016|PMID:36788754|PMID:36864778|PMID:37047781|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37936669|PMID:37937776|PMID:38002985|PMID:38116480|PMID:38379651|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:11977176|PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:19472918|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28213671|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31006259|PMID:31069529|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33673806|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34440373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35352813|PMID:35463915|PMID:35470680|PMID:35653365|PMID:35838873|PMID:35903116|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36204818|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36396199|PMID:36575883|PMID:36578016|PMID:36788754|PMID:36864778|PMID:37047781|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37936669|PMID:37937776|PMID:38002985|PMID:38116480|PMID:38379651|PMID:38473809|PMID:38476289|PMID:38489124|PMID:38689299|PMID:38757491|PMID:39260623|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:16199547|PMID:17576681|PMID:2|PMID:2018|PMID:23109048|PMID:24033266|PMID:25208129|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26863999|PMID:27574918|PMID:27601210|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28436997|PMID:28492532|PMID:28664140|PMID:29144512|PMID:29235529|PMID:29970176|PMID:30067491|PMID:30411535|PMID:30418145|PMID:30847666|PMID:31006259|PMID:31069529|PMID:31245841|PMID:31317183|PMID:31506931|PMID:31627847|PMID:31918855|PMID:32101375|PMID:32112656|PMID:32528171|PMID:32746448|PMID:33764162|PMID:33874732|PMID:34535832|PMID:34949102|PMID:35026164|PMID:35140110|PMID:35463915|PMID:36178741|PMID:36204818|PMID:36252119|PMID:36788754|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37904629|PMID:37937776|PMID:38002985|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:38895864|PMID:39472908|PMID:39554508|PMID:6|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:16199547|PMID:17576681|PMID:2|PMID:2018|PMID:23109048|PMID:24033266|PMID:25208129|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26863999|PMID:27574918|PMID:27601210|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28436997|PMID:28492532|PMID:28664140|PMID:29144512|PMID:29235529|PMID:29970176|PMID:30067491|PMID:30411535|PMID:30418145|PMID:30847666|PMID:31069529|PMID:31245841|PMID:31317183|PMID:31506931|PMID:31627847|PMID:31918855|PMID:32101375|PMID:32112656|PMID:32528171|PMID:32746448|PMID:33764162|PMID:33874732|PMID:34535832|PMID:34587765|PMID:34949102|PMID:35026164|PMID:35140110|PMID:35463915|PMID:36178741|PMID:36204818|PMID:36252119|PMID:36788754|PMID:37164047|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37904629|PMID:37937776|PMID:38002985|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:38761081|PMID:38895864|PMID:39472908|PMID:39554508|PMID:39694818|PMID:41672210|PMID:6|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1318791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related	PMID:16199547|PMID:17576681|PMID:23109048|PMID:24033266|PMID:25617006|PMID:25741868|PMID:25794656|PMID:26467025|PMID:26555887|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28213671|PMID:28356264|PMID:28403181|PMID:28436997|PMID:28492532|PMID:28664140|PMID:29144512|PMID:29235529|PMID:29970176|PMID:30067491|PMID:30411535|PMID:30418145|PMID:30847666|PMID:31006259|PMID:31069529|PMID:31245841|PMID:31317183|PMID:31506931|PMID:31627847|PMID:31918855|PMID:32101375|PMID:32112656|PMID:32528171|PMID:32746448|PMID:33764162|PMID:33802723|PMID:33874732|PMID:34535832|PMID:34587765|PMID:34949102|PMID:35026164|PMID:35140110|PMID:35463915|PMID:36178741|PMID:36204818|PMID:36788754|PMID:37164047|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37904629|PMID:37937776|PMID:38002985|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:38761081|PMID:38895864|PMID:39472908|PMID:39554508|PMID:39694818|PMID:41672210|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0080096	myofibrillar myopathy 5		ISS	RGD:1558082	D	RGD:13592920	20230718	MouseDO		OMIM:609524	
1308807	Flnc	filamin C	gene	DOID:0110327	hypertrophic cardiomyopathy 26		ISO	RGD:1318791	D	RGD:7240710	20190315	OMIM			
1308807	Flnc	filamin C	gene	DOID:0110327	hypertrophic cardiomyopathy 26		ISO	RGD:1318791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5 | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26	PMID:16199547|PMID:17576681|PMID:23109048|PMID:24033266|PMID:25351925|PMID:25617006|PMID:25741868|PMID:25794656|PMID:26467025|PMID:26555887|PMID:26666891|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28213671|PMID:28356264|PMID:28403181|PMID:28436997|PMID:28492532|PMID:28664140|PMID:29144512|PMID:29235529|PMID:29858533|PMID:29970176|PMID:30067491|PMID:30411535|PMID:30418145|PMID:30847666|PMID:30935706|PMID:31006259|PMID:31069529|PMID:31245841|PMID:31317183|PMID:31506931|PMID:31627847|PMID:31918855|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32528171|PMID:32746448|PMID:33764162|PMID:33802723|PMID:33874732|PMID:34535832|PMID:34587765|PMID:34949102|PMID:35026164|PMID:35140110|PMID:35463915|PMID:35653365|PMID:36178741|PMID:36204818|PMID:36286284|PMID:36788754|PMID:37164047|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37904629|PMID:37937776|PMID:38002985|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:38761081|PMID:38895864|PMID:39180012|PMID:39260623|PMID:39472908|PMID:39554508|PMID:39694818|PMID:41672210|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1318791	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:25741868
1308807	Flnc	filamin C	gene	DOID:0110443	dilated cardiomyopathy 1B		ISO	RGD:1318791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial	PMID:25741868|PMID:27908349|PMID:28492532|PMID:32112656|PMID:32746448|PMID:34587765|PMID:37164047|PMID:38761081
1308807	Flnc	filamin C	gene	DOID:0111190	distal myopathy 4		ISO	RGD:1318791	D	RGD:7240710	20140911	OMIM			
1308807	Flnc	filamin C	gene	DOID:0111190	distal myopathy 4		ISO	RGD:1318791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement | ClinVar Annotator: match by term: MYOPATHY, DISTAL, 4 | ClinVar Annotator: match by term: WILLIAMS DISTAL MYOPATHY	PMID:16199547|PMID:17576681|PMID:21520333|PMID:23109048|PMID:24033266|PMID:25351925|PMID:25617006|PMID:25741868|PMID:25794656|PMID:26436962|PMID:26467025|PMID:26555887|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28213671|PMID:28356264|PMID:28403181|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28798025|PMID:29144512|PMID:29235529|PMID:29551499|PMID:29792937|PMID:29970176|PMID:30067491|PMID:30411535|PMID:30418145|PMID:30685713|PMID:30847666|PMID:30935706|PMID:31006259|PMID:31069529|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31506931|PMID:31627847|PMID:31918855|PMID:32101375|PMID:32112656|PMID:32528171|PMID:32746448|PMID:32917565|PMID:33764162|PMID:33802723|PMID:33874732|PMID:34411373|PMID:34440373|PMID:34535832|PMID:34587765|PMID:34949102|PMID:35026164|PMID:35140110|PMID:35352813|PMID:35463915|PMID:35903116|PMID:36178741|PMID:36204818|PMID:36286284|PMID:36788754|PMID:37164047|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37937776|PMID:38002985|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:38761081|PMID:38895864|PMID:39472908|PMID:39554508|PMID:39694818|PMID:41672210|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:0111425	familial restrictive cardiomyopathy 1		ISO	RGD:1318791	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1	PMID:28492532
1308807	Flnc	filamin C	gene	DOID:10534	stomach cancer		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:16199547|PMID:27908349|PMID:28492532
1308807	Flnc	filamin C	gene	DOID:1115	sarcoma		ISO	RGD:1318791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:23109048|PMID:25741868|PMID:28008423|PMID:28492532|PMID:32112656|PMID:35026164
1308807	Flnc	filamin C	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:28492532
1308807	Flnc	filamin C	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
1308807	Flnc	filamin C	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1318791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:21520333|PMID:25741868|PMID:26436962|PMID:26666891|PMID:27908349|PMID:28356264|PMID:28492532|PMID:29858533|PMID:31245841|PMID:31627847|PMID:32112656|PMID:32603605
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Cardiomyopathy, fatal infantile | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32165824|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230718	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32165824|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:36129056|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:36129056|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36264615|PMID:36286284|PMID:37280362|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:37164047|PMID:37280362|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:18414213|PMID:19472918|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:37164047|PMID:37280362|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19472918|PMID:21135393|PMID:21520333|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37477868|PMID:37547072|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19472918|PMID:21135393|PMID:21520333|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31712860|PMID:31918855|PMID:31924696|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37477868|PMID:37547072|PMID:37937776|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19472918|PMID:21135393|PMID:21520333|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31712860|PMID:31918855|PMID:31924696|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37937776|PMID:38473809|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19472918|PMID:20124440|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28213671|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31627847|PMID:31641117|PMID:31712860|PMID:31918855|PMID:31924696|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36575883|PMID:36578016|PMID:36788754|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37936669|PMID:37937776|PMID:38116480|PMID:38379651|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Neonatal cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19472918|PMID:20124440|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28213671|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31069529|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31627847|PMID:31641117|PMID:31712860|PMID:31918855|PMID:31924696|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35352813|PMID:35463915|PMID:35470680|PMID:35653365|PMID:35838873|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36575883|PMID:36578016|PMID:36788754|PMID:37047781|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37936669|PMID:37937776|PMID:38002985|PMID:38116480|PMID:38379651|PMID:38473809|PMID:38476289|PMID:38489124|PMID:38689299|PMID:38757491|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11977176|PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19472918|PMID:20124440|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28213671|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31006259|PMID:31069529|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31627847|PMID:31641117|PMID:31712860|PMID:31918855|PMID:31924696|PMID:32101375|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33764162|PMID:33815637|PMID:33874732|PMID:33890751|PMID:34263907|PMID:34411373|PMID:34535832|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35352813|PMID:35463915|PMID:35470680|PMID:35653365|PMID:35838873|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36252119|PMID:36264615|PMID:36286284|PMID:36575883|PMID:36578016|PMID:36788754|PMID:37047781|PMID:37164047|PMID:37199186|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37547072|PMID:37904629|PMID:37936669|PMID:37937776|PMID:38002985|PMID:38116480|PMID:38379651|PMID:38473809|PMID:38476289|PMID:38489124|PMID:38689299|PMID:38757491|PMID:39260623|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:2|PMID:20124440|PMID:2018|PMID:21620354|PMID:23109048|PMID:24033266|PMID:25208129|PMID:25617006|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26863999|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28356264|PMID:28403181|PMID:28436997|PMID:28492532|PMID:28664140|PMID:29144512|PMID:29235529|PMID:29970176|PMID:30067491|PMID:30411535|PMID:30418145|PMID:30734317|PMID:30847666|PMID:31006259|PMID:31069529|PMID:31245841|PMID:31317183|PMID:31506931|PMID:31627847|PMID:31918855|PMID:32101375|PMID:32112656|PMID:32528171|PMID:32746448|PMID:33764162|PMID:33874732|PMID:34535832|PMID:34949102|PMID:35026164|PMID:35140110|PMID:35463915|PMID:36204818|PMID:36252119|PMID:36788754|PMID:37188302|PMID:37280362|PMID:37461109|PMID:37466024|PMID:37477868|PMID:37821546|PMID:37904629|PMID:37937776|PMID:38002985|PMID:38473809|PMID:38476289|PMID:38689299|PMID:38757491|PMID:38895864|PMID:39472908|PMID:39554508|PMID:6|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:20124440|PMID:21620354|PMID:23109048|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26555887|PMID:2781633|PMID:27908349|PMID:28008423|PMID:28166811|PMID:28492532|PMID:29235529|PMID:30734317|PMID:31627847|PMID:31918855|PMID:32112656|PMID:32746448|PMID:34535832|PMID:34949102|PMID:35026164|PMID:36252119|PMID:37188302|PMID:37461109|PMID:37821546|PMID:38473809|PMID:39472908|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15929027|PMID:16199547|PMID:17576681|PMID:20124440|PMID:21620354|PMID:23109048|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26555887|PMID:2781633|PMID:27908349|PMID:28008423|PMID:28166811|PMID:28492532|PMID:29235529|PMID:30734317|PMID:31627847|PMID:31918855|PMID:32112656|PMID:32746448|PMID:34535832|PMID:34587765|PMID:34949102|PMID:35026164|PMID:36252119|PMID:37164047|PMID:37188302|PMID:37461109|PMID:37821546|PMID:38473809|PMID:38761081|PMID:39472908|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:13620	patent foramen ovale		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:17576681|PMID:28492532|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:1657	ventricular septal defect		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:17576681|PMID:28492532|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:3191	nemaline myopathy		ISO	RGD:1318791	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy	PMID:25741868|PMID:32607581
1308807	Flnc	filamin C	gene	DOID:3275	thymoma		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308807	Flnc	filamin C	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1318791	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532
1308807	Flnc	filamin C	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restrictive cardiomyopathy	PMID:25741868|PMID:28492532
1308807	Flnc	filamin C	gene	DOID:4362	cervical cancer		ISO	RGD:1318791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:27296017|PMID:28492532
1308807	Flnc	filamin C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308807	Flnc	filamin C	gene	DOID:5041	esophageal cancer		ISO	RGD:1318791	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532|PMID:30411535
1308807	Flnc	filamin C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308807	Flnc	filamin C	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:27908349|PMID:28492532
1308807	Flnc	filamin C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308807	Flnc	filamin C	gene	DOID:9003760	Myalgia		ISO	RGD:1318791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
1308807	Flnc	filamin C	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1318791	D	RGD:8554872	20171212	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1308807	Flnc	filamin C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308807	Flnc	filamin C	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:1318791	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:1318791	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:17576681|PMID:25741868|PMID:28492532|PMID:37937776|PMID:9536098
1308807	Flnc	filamin C	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318791	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
1308808	Mon2	MON2 regulator of endosome-to-Golgi trafficking	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308808	Mon2	MON2 regulator of endosome-to-Golgi trafficking	gene	DOID:10534	stomach cancer		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308808	Mon2	MON2 regulator of endosome-to-Golgi trafficking	gene	DOID:1115	sarcoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308808	Mon2	MON2 regulator of endosome-to-Golgi trafficking	gene	DOID:1324	lung cancer		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308808	Mon2	MON2 regulator of endosome-to-Golgi trafficking	gene	DOID:1909	melanoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308808	Mon2	MON2 regulator of endosome-to-Golgi trafficking	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308808	Mon2	MON2 regulator of endosome-to-Golgi trafficking	gene	DOID:3275	thymoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308808	Mon2	MON2 regulator of endosome-to-Golgi trafficking	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308808	Mon2	MON2 regulator of endosome-to-Golgi trafficking	gene	DOID:4362	cervical cancer		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308808	Mon2	MON2 regulator of endosome-to-Golgi trafficking	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308808	Mon2	MON2 regulator of endosome-to-Golgi trafficking	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308808	Mon2	MON2 regulator of endosome-to-Golgi trafficking	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308808	Mon2	MON2 regulator of endosome-to-Golgi trafficking	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308809	Btg4	BTG anti-proliferation factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308809	Btg4	BTG anti-proliferation factor 4	gene	DOID:1909	melanoma		ISO	RGD:1318793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308809	Btg4	BTG anti-proliferation factor 4	gene	DOID:9007155	Oocyte/Zygote/Embryo Maturation Arrest 8		ISO	RGD:1318793	D	RGD:7240710	20200930	OMIM			
1308809	Btg4	BTG anti-proliferation factor 4	gene	DOID:9007155	Oocyte/Zygote/Embryo Maturation Arrest 8		ISO	RGD:1318793	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 8	PMID:25741868|PMID:32502391
1308810	Blm	BLM RecQ like helicase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
1308810	Blm	BLM RecQ like helicase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:10534	stomach cancer		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308810	Blm	BLM RecQ like helicase	gene	DOID:10907	microcephaly		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308810	Blm	BLM RecQ like helicase	gene	DOID:1115	sarcoma		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308810	Blm	BLM RecQ like helicase	gene	DOID:11162	respiratory failure		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:11830	myopia		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:1596	depressive disorder		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:1826	epilepsy		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:1909	melanoma		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308810	Blm	BLM RecQ like helicase	gene	DOID:2030	anxiety disorder		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:219	colon cancer		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1308810	Blm	BLM RecQ like helicase	gene	DOID:2394	ovarian cancer		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:2717	Bloom syndrome		ISO	RGD:1318795	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21440839
1308810	Blm	BLM RecQ like helicase	gene	DOID:2717	Bloom syndrome		ISO	RGD:1318795	D	RGD:1580056|PMID:10779560	19990101	RGD			
1308810	Blm	BLM RecQ like helicase	gene	DOID:2717	Bloom syndrome		ISO	RGD:1318795	D	RGD:1599420|PMID:9388480	20070201	RGD			
1308810	Blm	BLM RecQ like helicase	gene	DOID:2717	Bloom syndrome		ISO	RGD:1318795	D	RGD:7240710	20130221	OMIM			
1308810	Blm	BLM RecQ like helicase	gene	DOID:2717	Bloom syndrome		ISO	RGD:1318795	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BLM-related condition | ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome	PMID:10069810|PMID:10090915|PMID:10569803|PMID:10734115|PMID:10812332|PMID:10965492|PMID:11281456|PMID:11399766|PMID:12242432|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:15990871|PMID:16199547|PMID:16876111|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18414213|PMID:18471088|PMID:19763152|PMID:19917125|PMID:20301572|PMID:20307669|PMID:20579941|PMID:20639533|PMID:20980836|PMID:21113733|PMID:21815139|PMID:22406018|PMID:22582397|PMID:22657828|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24118499|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25123191|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25640679|PMID:25653542|PMID:25741868|PMID:25741877|PMID:25794620|PMID:25850943|PMID:25901030|PMID:25940061|PMID:26028025|PMID:26247052|PMID:26296701|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:26979391|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27270107|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28805986|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338072|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:29970176|PMID:30044990|PMID:30082870|PMID:30138938|PMID:30152102|PMID:30214071|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30441849|PMID:30502717|PMID:30541756|PMID:30612635|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31212687|PMID:31218271|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31420779|PMID:31514334|PMID:31562900|PMID:31589614|PMID:31604778|PMID:31681265|PMID:31780696|PMID:31816118|PMID:31844177|PMID:31911633|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32029870|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32620917|PMID:32655338|PMID:32704157|PMID:32860008|PMID:32868804|PMID:32906206|PMID:32923906|PMID:33073370|PMID:33077847|PMID:33193653|PMID:33219493|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33528079|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:33850299|PMID:34117267|PMID:34177791|PMID:34288589|PMID:34308104|PMID:34497584|PMID:34512202|PMID:34538859|PMID:34718612|PMID:34767783|PMID:35218564|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35314707|PMID:35892882|PMID:35957908|PMID:35969835|PMID:35988656|PMID:36179682|PMID:36230663|PMID:36232793|PMID:36315097|PMID:36732629|PMID:36744932|PMID:37316882|PMID:38509102|PMID:7585968|PMID:7799980|PMID:9285778|PMID:9388480|PMID:9536098|PMID:9758720|PMID:9837821|PMID:9840919
1308810	Blm	BLM RecQ like helicase	gene	DOID:2717	Bloom syndrome		ISO	RGD:1318795	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BLM-related condition | ClinVar Annotator: match by term: BLOOM SYNDROME | ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome	PMID:10069810|PMID:10090915|PMID:10569803|PMID:10734115|PMID:10812332|PMID:10965492|PMID:11281456|PMID:11399766|PMID:12242432|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:15990871|PMID:16199547|PMID:16876111|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18414213|PMID:18471088|PMID:19763152|PMID:20301572|PMID:20307669|PMID:20579941|PMID:20639533|PMID:20980836|PMID:21113733|PMID:21815139|PMID:22406018|PMID:22582397|PMID:22657828|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24118499|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25231023|PMID:25525159|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25741877|PMID:25794620|PMID:25901030|PMID:26028025|PMID:26247052|PMID:26358404|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26979391|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338072|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214071|PMID:30262796|PMID:30306255|PMID:30441849|PMID:30523343|PMID:30613976|PMID:30840646|PMID:30871259|PMID:30936263|PMID:31118792|PMID:31159747|PMID:31212687|PMID:31218271|PMID:31253795|PMID:31263571|PMID:31589614|PMID:31604778|PMID:31696992|PMID:31816118|PMID:31844177|PMID:31918214|PMID:31937788|PMID:31942411|PMID:32029870|PMID:32073752|PMID:32083130|PMID:32449991|PMID:32522261|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32906206|PMID:32923906|PMID:33057194|PMID:33073370|PMID:33077847|PMID:33193653|PMID:33258288|PMID:33318203|PMID:33332384|PMID:33453166|PMID:33558524|PMID:33563768|PMID:33588785|PMID:33606809|PMID:33647232|PMID:33789101|PMID:33832920|PMID:33850299|PMID:34288589|PMID:34308104|PMID:34341476|PMID:34352413|PMID:34374989|PMID:34497584|PMID:34538859|PMID:34767783|PMID:34793666|PMID:35014770|PMID:35218564|PMID:35264596|PMID:35314707|PMID:35957908|PMID:35969835|PMID:36315097|PMID:36315513|PMID:36591485|PMID:36732629|PMID:36999792|PMID:37594403|PMID:37791908|PMID:39052144|PMID:39493880|PMID:7485150|PMID:7585968|PMID:7799980|PMID:9285778|PMID:9388480|PMID:9536098|PMID:9758720|PMID:9837821|PMID:9840919
1308810	Blm	BLM RecQ like helicase	gene	DOID:2717	Bloom syndrome		ISS	RGD:1318796	D	RGD:13592920	20230718	MouseDO		OMIM:210900	
1308810	Blm	BLM RecQ like helicase	gene	DOID:2841	asthma		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:3275	thymoma		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308810	Blm	BLM RecQ like helicase	gene	DOID:4362	cervical cancer		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308810	Blm	BLM RecQ like helicase	gene	DOID:480	movement disease		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318795	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308810	Blm	BLM RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318795	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17407155|PMID:23129629|PMID:23292937|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:29338689|PMID:30214240|PMID:30840646|PMID:32566746|PMID:7585968
1308810	Blm	BLM RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318795	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17407155|PMID:23129629|PMID:23292937|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:29338689|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968
1308810	Blm	BLM RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318795	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:17407155|PMID:23129629|PMID:23292937|PMID:23960188|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:28944238|PMID:29338689|PMID:29641532|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968
1308810	Blm	BLM RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318795	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:17407155|PMID:17576681|PMID:23129629|PMID:23292937|PMID:23960188|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:28944238|PMID:29338689|PMID:29641532|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968|PMID:9536098
1308810	Blm	BLM RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318795	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199547|PMID:17407155|PMID:17576681|PMID:23129629|PMID:23292937|PMID:23960188|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:28944238|PMID:29338689|PMID:29641532|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:35273153|PMID:35314707|PMID:7585968|PMID:9536098
1308810	Blm	BLM RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:16199547|PMID:17407155|PMID:25741868|PMID:28492532|PMID:32566746
1308810	Blm	BLM RecQ like helicase	gene	DOID:630	genetic disease		ISO	RGD:1318795	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23129629|PMID:25741868|PMID:26788541|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:707	B-cell lymphoma		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: B-cell lymphoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1308810	Blm	BLM RecQ like helicase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:9001733	Tinnitus		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:9003507	Premature Birth		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:17576681|PMID:26467025|PMID:28492532|PMID:9536098
1308810	Blm	BLM RecQ like helicase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:23129629|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28944238|PMID:35264596
1308810	Blm	BLM RecQ like helicase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318795	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26585945|PMID:26681682|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28832562|PMID:28873162|PMID:28877996|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30840646|PMID:30995915|PMID:31159747|PMID:31253795|PMID:31780696|PMID:31816118|PMID:31970404|PMID:32566746|PMID:32860008|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919
1308810	Blm	BLM RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318795	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26585945|PMID:26681682|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28832562|PMID:28873162|PMID:28877996|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30840646|PMID:30995915|PMID:31159747|PMID:31253795|PMID:31780696|PMID:31816118|PMID:31970404|PMID:32073752|PMID:32566746|PMID:32860008|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919
1308810	Blm	BLM RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318795	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31780696|PMID:31816118|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32566746|PMID:32860008|PMID:32868804|PMID:33318203|PMID:33436027|PMID:33832920|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919
1308810	Blm	BLM RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318795	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31780696|PMID:31816118|PMID:31937788|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32566746|PMID:32860008|PMID:32868804|PMID:33318203|PMID:33436027|PMID:33606809|PMID:33832920|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919
1308810	Blm	BLM RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318795	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25850943|PMID:25901030|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31780696|PMID:31816118|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33318203|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34177791|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919
1308810	Blm	BLM RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318795	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25794620|PMID:25850943|PMID:25901030|PMID:25940061|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27854218|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31681265|PMID:31780696|PMID:31816118|PMID:31911633|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34117267|PMID:34177791|PMID:35264596|PMID:35892882|PMID:36232793|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919
1308810	Blm	BLM RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318795	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11281456|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25794620|PMID:25850943|PMID:25901030|PMID:25940061|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27854218|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31681265|PMID:31780696|PMID:31816118|PMID:31911633|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34117267|PMID:34177791|PMID:34497584|PMID:34538859|PMID:35264596|PMID:35892882|PMID:36232793|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919
1308810	Blm	BLM RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318795	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11281456|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25794620|PMID:25850943|PMID:25901030|PMID:25940061|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:26979391|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27270107|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27854218|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28805986|PMID:28832562|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:29970176|PMID:30044990|PMID:30082870|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30441849|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31218271|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31589614|PMID:31681265|PMID:31780696|PMID:31816118|PMID:31911633|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32704157|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33528079|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34117267|PMID:34177791|PMID:34288589|PMID:34308104|PMID:34497584|PMID:34538859|PMID:34767783|PMID:35218564|PMID:35264596|PMID:35273153|PMID:35314707|PMID:35892882|PMID:35969835|PMID:36232793|PMID:36315097|PMID:37316882|PMID:7585968|PMID:7799980|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919
1308810	Blm	BLM RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318795	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11281456|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25794620|PMID:25850943|PMID:25901030|PMID:25940061|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:26979391|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27270107|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28805986|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:29970176|PMID:30044990|PMID:30082870|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30441849|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31212687|PMID:31218271|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31589614|PMID:31681265|PMID:31780696|PMID:31816118|PMID:31844177|PMID:31911633|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32655338|PMID:32704157|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33193653|PMID:33219493|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33528079|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34117267|PMID:34177791|PMID:34288589|PMID:34308104|PMID:34497584|PMID:34512202|PMID:34538859|PMID:34767783|PMID:35218564|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35314707|PMID:35892882|PMID:35957908|PMID:35969835|PMID:36232793|PMID:36315097|PMID:37316882|PMID:7585968|PMID:7799980|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919
1308810	Blm	BLM RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318795	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11281456|PMID:11399766|PMID:12242432|PMID:12242442|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20579941|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25123191|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25794620|PMID:25850943|PMID:25901030|PMID:25940061|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:26979391|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27270107|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28805986|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338072|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:29970176|PMID:30044990|PMID:30082870|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30441849|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31212687|PMID:31218271|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31420779|PMID:31514334|PMID:31562900|PMID:31589614|PMID:31604778|PMID:31614901|PMID:31681265|PMID:31780696|PMID:31816118|PMID:31844177|PMID:31911633|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32522261|PMID:32566746|PMID:32595206|PMID:32620917|PMID:32655338|PMID:32704157|PMID:32860008|PMID:32868804|PMID:32906206|PMID:32923906|PMID:33077847|PMID:33193653|PMID:33219493|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33528079|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:33850299|PMID:34117267|PMID:34177791|PMID:34288589|PMID:34308104|PMID:34497584|PMID:34512202|PMID:34538859|PMID:34718612|PMID:34767783|PMID:34966786|PMID:35218564|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35314707|PMID:35892882|PMID:35957908|PMID:35969835|PMID:35988656|PMID:36179682|PMID:36230663|PMID:36232793|PMID:36315097|PMID:36744932|PMID:37316882|PMID:38509102|PMID:7585968|PMID:7799980|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919
1308810	Blm	BLM RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318795	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10069810|PMID:10812332|PMID:12444098|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:20579941|PMID:22582397|PMID:23028338|PMID:23129629|PMID:24728327|PMID:24816114|PMID:25111073|PMID:25231023|PMID:25637381|PMID:25741868|PMID:26247052|PMID:26358404|PMID:26467025|PMID:26580448|PMID:26689913|PMID:2678854|PMID:26788541|PMID:26979391|PMID:27124789|PMID:27153395|PMID:27959697|PMID:28492532|PMID:28805986|PMID:28944238|PMID:29338072|PMID:29439820|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29785153|PMID:30152102|PMID:30262796|PMID:30306255|PMID:30523343|PMID:30613976|PMID:30871259|PMID:31159747|PMID:31218271|PMID:31253795|PMID:31911633|PMID:31937788|PMID:31942411|PMID:32522261|PMID:32906206|PMID:33219493|PMID:33318203|PMID:33332384|PMID:33558524|PMID:33606809|PMID:33832920|PMID:35264596|PMID:35957908|PMID:35969835|PMID:36315513|PMID:37052241|PMID:37594403|PMID:7585968|PMID:9536098|PMID:9837821
1308810	Blm	BLM RecQ like helicase	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:9007661	Dwarfism		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17407155|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29625052|PMID:31218271|PMID:33832920|PMID:35969835|PMID:37594403
1308810	Blm	BLM RecQ like helicase	gene	DOID:9007736	Vertigo		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:9008023	Memory Disorders		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:26467025|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:9008879	Self Mutilation		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Self-mutilation	PMID:25741868|PMID:28492532
1308810	Blm	BLM RecQ like helicase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308810	Blm	BLM RecQ like helicase	gene	DOID:9256	colorectal cancer		ISO	RGD:1318795	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: colorectal cancer	PMID:25186949|PMID:25741868|PMID:26467025|PMID:26503572|PMID:28492532|PMID:31970404
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1318797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:26522469
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:0111470	combined oxidative phosphorylation deficiency 28		ISO	RGD:1318797	D	RGD:7240710	20190315	OMIM			
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:0111470	combined oxidative phosphorylation deficiency 28		ISO	RGD:1318797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 28 | ClinVar Annotator: match by term: SLC25A26-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:10534	stomach cancer		ISO	RGD:1318797	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:1115	sarcoma		ISO	RGD:1318797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:1909	melanoma		ISO	RGD:1318797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:3275	thymoma		ISO	RGD:1318797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318797	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:630	genetic disease		ISO	RGD:1318797	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26522469|PMID:28492532
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:9004296	Hypokalemic Periodic Paralysis, Type 1		ISO	RGD:1318797	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1	PMID:25741868
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:26522469
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308811	Slc25a26	solute carrier family 25 member 26	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308812	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:1907	malignant fibrous histiocytoma		ISO	RGD:1318798	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: MFHAS1-related condition	PMID:25741868|PMID:28492532
1308812	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1318798	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1308812	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308812	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:4415	fibrous histiocytoma		ISO	RGD:1318798	D	RGD:1599928|PMID:9973190	20070221	RGD			
1308812	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308812	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308812	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308812	Mfhas1	multifunctional ROCO family signaling regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308813	Ccdc47	coiled-coil domain containing 47	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308813	Ccdc47	coiled-coil domain containing 47	gene	DOID:10534	stomach cancer		ISO	RGD:1603982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308813	Ccdc47	coiled-coil domain containing 47	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308813	Ccdc47	coiled-coil domain containing 47	gene	DOID:1909	melanoma		ISO	RGD:1603982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308813	Ccdc47	coiled-coil domain containing 47	gene	DOID:3275	thymoma		ISO	RGD:1603982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308813	Ccdc47	coiled-coil domain containing 47	gene	DOID:5041	esophageal cancer		ISO	RGD:1603982	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308813	Ccdc47	coiled-coil domain containing 47	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308813	Ccdc47	coiled-coil domain containing 47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308813	Ccdc47	coiled-coil domain containing 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308813	Ccdc47	coiled-coil domain containing 47	gene	DOID:9007682	Trichohepatoneurodevelopmental Syndrome		ISO	RGD:1603982	D	RGD:7240710	20190410	OMIM			
1308813	Ccdc47	coiled-coil domain containing 47	gene	DOID:9007682	Trichohepatoneurodevelopmental Syndrome		ISO	RGD:1603982	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: CCDC47-related condition | ClinVar Annotator: match by term: Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair | ClinVar Annotator: match by term: Trichohepatoneurodevelopmental syndrome	PMID:25741868|PMID:28492532|PMID:30401460
1308813	Ccdc47	coiled-coil domain containing 47	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1318801	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:28492532|PMID:32733715
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1318801	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 1, MODIFIER OF	
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:0110128	Bardet-Biedl syndrome 6		ISO	RGD:1318801	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:0110128	Bardet-Biedl syndrome 6		ISO	RGD:1318801	D	RGD:7240710	20171011	OMIM			
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:0110128	Bardet-Biedl syndrome 6		ISO	RGD:1318801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 6 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 6	PMID:10802661|PMID:10973238|PMID:10973251|PMID:11179009|PMID:15731008|PMID:15770229|PMID:16104012|PMID:18094050|PMID:18813213|PMID:20080638|PMID:20498079|PMID:22446187|PMID:24400638|PMID:25741868|PMID:26968886|PMID:28492532|PMID:28753627|PMID:28761321|PMID:30614526|PMID:33138063|PMID:36284670|PMID:9467007
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:0110128	Bardet-Biedl syndrome 6		ISS	RGD:1318802	D	RGD:13592920	20230718	MouseDO		OMIM:605231	
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:0111255	McKusick-Kaufman syndrome		ISO	RGD:1318801	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:0111255	McKusick-Kaufman syndrome		ISO	RGD:1318801	D	RGD:7240710	20130221	OMIM			
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:0111255	McKusick-Kaufman syndrome		ISO	RGD:1318801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HYDROMETROCOLPOS, POSTAXIAL POLYDACTYLY, AND CONGENITAL HEART MALFORMATION | ClinVar Annotator: match by term: Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation | ClinVar Annotator: match by term: MCKUSICK-KAUFMAN SYNDROME | ClinVar Annotator: match by term: MKKS-related condition | ClinVar Annotator: match by term: McKusick-Kaufman syndrome	PMID:10802661|PMID:10973251|PMID:11179009|PMID:15666242|PMID:15770229|PMID:16104012|PMID:17576681|PMID:18094050|PMID:18813213|PMID:20080638|PMID:20142850|PMID:20177705|PMID:20472660|PMID:20498079|PMID:21157496|PMID:21209035|PMID:22446187|PMID:24400638|PMID:25741868|PMID:25982971|PMID:28492532|PMID:28753627|PMID:28761321|PMID:30586318|PMID:30614526|PMID:30718709|PMID:33046855|PMID:33138063|PMID:34262361|PMID:34448047|PMID:34663891|PMID:35112343|PMID:35835773|PMID:37217489|PMID:9467007|PMID:9536098
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:1059	intellectual disability		ISO	RGD:1318801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:12107442|PMID:18094050|PMID:25741868|PMID:28492532|PMID:29127258
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:12215	oligohydramnios		ISO	RGD:1318801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:11179009|PMID:25741868|PMID:28492532|PMID:28761321|PMID:30614526
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:12712	nephronophthisis		ISO	RGD:1318801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:1682	congenital heart disease		ISO	RGD:1318801	D	RGD:1582516|PMID:12107442	20061111	RGD			
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:1909	melanoma		ISO	RGD:1318801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1318801	D	RGD:1581208|PMID:10973251	19990101	RGD			
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1318801	D	RGD:1601414|PMID:15483080	20070419	RGD		Bardet-Biedl syndrome 6 (BBS6)	
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1318801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl Syndrome | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:10802661|PMID:10973238|PMID:10973251|PMID:11179009|PMID:12107442|PMID:15666242|PMID:15770229|PMID:16104012|PMID:17576681|PMID:18094050|PMID:18813213|PMID:19763152|PMID:20080638|PMID:20177705|PMID:20307669|PMID:20472660|PMID:20498079|PMID:20502701|PMID:21044901|PMID:22353939|PMID:22406018|PMID:22446187|PMID:22773737|PMID:24400638|PMID:25741868|PMID:25982971|PMID:26355662|PMID:26900326|PMID:28492532|PMID:28624958|PMID:28753627|PMID:28761321|PMID:2896767|PMID:30614526|PMID:30718709|PMID:31054281|PMID:31196119|PMID:31989739|PMID:33138063|PMID:37031301|PMID:9467007|PMID:9536098
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1318801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:25741868
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:630	genetic disease		ISO	RGD:1318801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:8501	fundus dystrophy		ISO	RGD:1318801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:12107442|PMID:20120035|PMID:20177705|PMID:25741868|PMID:28492532|PMID:30718709|PMID:3196484
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:9000726	Bardet-Biedl Syndrome 2/6, Digenic		ISO	RGD:1318801	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 2/6, DIGENIC	
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:9970	obesity		ISO	RGD:1318801	D	RGD:1581208|PMID:10973251	19990101	RGD			
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:9970	obesity		ISS	RGD:1318802	D	RGD:13592920	20180518	MouseDO		OMIM:601665	
1308814	Mkks	MKKS centrosomal shuttling protein	gene	DOID:9970	obesity	no_association	ISO	RGD:1318801	D	RGD:1601414|PMID:15483080	20070419	RGD			
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:0080555	congenital disorder of glycosylation Ic		ISO	RGD:1318803	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:0080555	congenital disorder of glycosylation Ic		ISO	RGD:1318803	D	RGD:7240710	20130221	OMIM			
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:0080555	congenital disorder of glycosylation Ic		ISO	RGD:1318803	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALG6-related condition | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1C | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1c | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ic	PMID:10359825|PMID:10852543|PMID:10914684|PMID:11106564|PMID:12357336|PMID:12855228|PMID:14517965|PMID:15771971|PMID:16007612|PMID:16199547|PMID:16321363|PMID:17576681|PMID:19862844|PMID:20447155|PMID:21899441|PMID:23044053|PMID:23430515|PMID:25741868|PMID:26453362|PMID:27287710|PMID:28492532|PMID:30653653|PMID:31117816|PMID:32407885|PMID:32635232|PMID:36756224|PMID:39141102|PMID:9536098
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1318803	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:2975	cystic kidney disease		ISO	RGD:1318803	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: cystic kidney disease	PMID:25741868|PMID:28492532
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318803	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1318803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:9007817	Macroglossia		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1308815	Alg6	ALG6, alpha-1,3-glucosyltransferase	gene	DOID:9256	colorectal cancer		ISO	RGD:1318803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308816	Cnep1r1	CTD nuclear envelope phosphatase 1 regulatory subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1603875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308816	Cnep1r1	CTD nuclear envelope phosphatase 1 regulatory subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603875	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308816	Cnep1r1	CTD nuclear envelope phosphatase 1 regulatory subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308816	Cnep1r1	CTD nuclear envelope phosphatase 1 regulatory subunit 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1603875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308816	Cnep1r1	CTD nuclear envelope phosphatase 1 regulatory subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308816	Cnep1r1	CTD nuclear envelope phosphatase 1 regulatory subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308816	Cnep1r1	CTD nuclear envelope phosphatase 1 regulatory subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308817	Brf2	BRF2 general transcription factor 3B subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308817	Brf2	BRF2 general transcription factor 3B subunit	gene	DOID:0060058	lymphoma		ISO	RGD:1318806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308817	Brf2	BRF2 general transcription factor 3B subunit	gene	DOID:10283	prostate cancer		ISO	RGD:1318806	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:25741868
1308817	Brf2	BRF2 general transcription factor 3B subunit	gene	DOID:10283	prostate cancer		ISO	RGD:1318806	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:25741868
1308817	Brf2	BRF2 general transcription factor 3B subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308817	Brf2	BRF2 general transcription factor 3B subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308817	Brf2	BRF2 general transcription factor 3B subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308818	Cfap210	cilia and flagella associated protein 210	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2298833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308818	Cfap210	cilia and flagella associated protein 210	gene	DOID:1115	sarcoma		ISO	RGD:2298833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308818	Cfap210	cilia and flagella associated protein 210	gene	DOID:3070	high grade glioma		ISO	RGD:2298833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308820	Rassf8	Ras association domain family member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308820	Rassf8	Ras association domain family member 8	gene	DOID:1324	lung cancer		ISO	RGD:1318811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308820	Rassf8	Ras association domain family member 8	gene	DOID:4362	cervical cancer		ISO	RGD:1318811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308820	Rassf8	Ras association domain family member 8	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1318811	D	RGD:152998978|PMID:31687280	20220714	RGD		mRNA:altered expression:liver (human)	
1308820	Rassf8	Ras association domain family member 8	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1318811	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1308820	Rassf8	Ras association domain family member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308821	Slc17a2	solute carrier family 17, member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308821	Slc17a2	solute carrier family 17, member 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1318813	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1308821	Slc17a2	solute carrier family 17, member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308821	Slc17a2	solute carrier family 17, member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318813	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:0060058	lymphoma		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:0111575	dehydrated hereditary stomatocytosis		ISO	RGD:1318815	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEHYDRATED HEREDITARY STOMATOCYTOSIS	
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:0111576	dehydrated hereditary stomatocytosis 1		ISO	RGD:1318815	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:0111576	dehydrated hereditary stomatocytosis 1		ISO	RGD:1318815	D	RGD:7240710	20130911	OMIM			
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:0111576	dehydrated hereditary stomatocytosis 1		ISO	RGD:1318815	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH | ClinVar Annotator: match by term: Pseudohyperkalemia, familial, 1, due to red cell leak	PMID:16898969|PMID:17253968|PMID:21944700|PMID:22529292|PMID:23479567|PMID:23487776|PMID:23581886|PMID:23695678|PMID:23973043|PMID:24033266|PMID:24314002|PMID:25741868|PMID:26333996|PMID:26780541|PMID:28492532|PMID:28518170|PMID:28716860|PMID:28971506|PMID:29449963|PMID:29952828|PMID:30187933|PMID:30655378|PMID:31670187|PMID:33181827|PMID:33686258|PMID:34201899|PMID:34358671|PMID:36122374|PMID:36595486|PMID:5559828|PMID:89283|PMID:9827909
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:0111576	dehydrated hereditary stomatocytosis 1		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH	PMID:25741868|PMID:28492532
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:0111576	dehydrated hereditary stomatocytosis 1		ISS	RGD:1625473	D	RGD:13592920	20250710	MouseDO		OMIM:194380	
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:1324	lung cancer		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:3275	thymoma		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318815	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:583	hemolytic anemia		ISO	RGD:1318815	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:25741868
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:630	genetic disease		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1318815	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Polyhydramnios | ClinVar Annotator: match by term: polyhydramnios	PMID:25741868|PMID:28492532|PMID:30244526|PMID:31680349|PMID:36484990
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:9000957	lymphatic malformation 6		ISO	RGD:1318815	D	RGD:7240710	20190315	OMIM			
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:9000957	lymphatic malformation 6		ISO	RGD:1318815	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse lymphatic malformation | ClinVar Annotator: match by term: GENERALIZED LYMPHATIC DYSPLASIA OF FOTIOU | ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 6 | ClinVar Annotator: match by term: Lymphatic malformation 6 | ClinVar Annotator: match by term: Lymphedema, hereditary, III | ClinVar Annotator: match by term: PIEZO1-related condition | ClinVar Annotator: match by term: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	PMID:17576681|PMID:22529292|PMID:23479567|PMID:23487776|PMID:23581886|PMID:23695678|PMID:23973043|PMID:24314002|PMID:25741868|PMID:25741889|PMID:26333996|PMID:27479843|PMID:28492532|PMID:28716860|PMID:29396846|PMID:30244526|PMID:30867417|PMID:31040790|PMID:31624108|PMID:33027564|PMID:33837027|PMID:34201899|PMID:34656527|PMID:36122374|PMID:9536098
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:9004898	Jaundice		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis | ClinVar Annotator: match by term: hydrops fetalis	PMID:25741868|PMID:28492532|PMID:30244526|PMID:31680349|PMID:36484990
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1308822	Piezo1	piezo-type mechanosensitive ion channel component 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1318815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308823	Mon1a	MON1 vesicular trafficking associated A	gene	DOID:0060774	congenital diarrhea		ISO	RGD:1601843	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Congenital diarrhea	PMID:25741868
1308823	Mon1a	MON1 vesicular trafficking associated A	gene	DOID:1115	sarcoma		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308823	Mon1a	MON1 vesicular trafficking associated A	gene	DOID:1909	melanoma		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308823	Mon1a	MON1 vesicular trafficking associated A	gene	DOID:2351	iron metabolism disease		ISO	RGD:1601843	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632513
1308823	Mon1a	MON1 vesicular trafficking associated A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308823	Mon1a	MON1 vesicular trafficking associated A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308823	Mon1a	MON1 vesicular trafficking associated A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308825	Psmc6	proteasome 26S subunit, ATPase 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308825	Psmc6	proteasome 26S subunit, ATPase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308825	Psmc6	proteasome 26S subunit, ATPase 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308825	Psmc6	proteasome 26S subunit, ATPase 6	gene	DOID:1324	lung cancer		ISO	RGD:1318819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308825	Psmc6	proteasome 26S subunit, ATPase 6	gene	DOID:3275	thymoma		ISO	RGD:1318819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308825	Psmc6	proteasome 26S subunit, ATPase 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308825	Psmc6	proteasome 26S subunit, ATPase 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318819	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308825	Psmc6	proteasome 26S subunit, ATPase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308825	Psmc6	proteasome 26S subunit, ATPase 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308825	Psmc6	proteasome 26S subunit, ATPase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308827	Sephs2	selenophosphate synthetase 2	gene	DOID:0050860	colorectal adenoma		ISO	RGD:1318823	D	RGD:151665806|PMID:30469315	20220405	RGD		mRNA:decreased expression:colorectum (human)	
1308827	Sephs2	selenophosphate synthetase 2	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1318823	D	RGD:151665806|PMID:30469315	20220405	RGD		mRNA:decreased expression:colorectum (human)	
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:0050807	Kahrizi syndrome		ISO	RGD:1606233	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:0050807	Kahrizi syndrome		ISO	RGD:1606233	D	RGD:7240710	20130221	OMIM			
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:0050807	Kahrizi syndrome		ISO	RGD:1606233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: KAHRIZI SYNDROME | ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE	PMID:21937992|PMID:25741868
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:0080568	congenital disorder of glycosylation Iq		ISO	RGD:1606233	D	RGD:7240710	20130221	OMIM			
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:0080568	congenital disorder of glycosylation Iq		ISO	RGD:1606233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iq | ClinVar Annotator: match by term: SRD5A3-related condition	PMID:17576681|PMID:25741868|PMID:27480077|PMID:28492532|PMID:31319225|PMID:31638560|PMID:35339718|PMID:9536098
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1606233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1606233	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1606233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:21937992|PMID:25741868
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:10609	rickets		ISO	RGD:1606233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rickets	PMID:21937992|PMID:25741868
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:1606233	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349890
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:12849	autistic disorder		ISO	RGD:1606233	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autistic disorder	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:12849	autistic disorder		ISO	RGD:1606233	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1606233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital disorders of glycosylation	PMID:17576681|PMID:27480077|PMID:28492532|PMID:35339718|PMID:9536098
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:5679	retinal disease		ISO	RGD:1606233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25741868|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:630	genetic disease		ISO	RGD:1606233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:9000343	Vision Disorders		ISO	RGD:1606233	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:21937992|PMID:25741868
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308828	Srd5a3	steroid 5 alpha-reductase 3	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1606233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:21937992|PMID:25741868
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:0060787	hypomyelinating leukodystrophy 2		ISO	RGD:1318826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2	PMID:10699052|PMID:11854167|PMID:15505393|PMID:16602100|PMID:17622945|PMID:25741868|PMID:28302372|PMID:28492532|PMID:33578440|PMID:34504725|PMID:8900227
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:0111254	glutaric acidemia I		ISO	RGD:1318826	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:10759157|PMID:25204480
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:0111254	glutaric acidemia I		ISO	RGD:1318826	D	RGD:7240710	20130221	OMIM			
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:0111254	glutaric acidemia I		ISO	RGD:1318826	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLUTARIC ACIDEMIA I | ClinVar Annotator: match by term: Glutaric acidemia I | ClinVar Annotator: match by term: Glutaric acidemia type 1 | ClinVar Annotator: match by term: Glutaric acidemia type I | ClinVar Annotator: match by term: Glutaric aciduria, type 1	PMID:10066389|PMID:10649503|PMID:10699052|PMID:10960496|PMID:11015709|PMID:11024031|PMID:11058907|PMID:11073722|PMID:11174631|PMID:11508549|PMID:11854167|PMID:12199454|PMID:12210585|PMID:12473778|PMID:12948740|PMID:14691600|PMID:14707522|PMID:15318278|PMID:15505393|PMID:15505400|PMID:15573311|PMID:15954035|PMID:16183314|PMID:16183823|PMID:16199547|PMID:16377226|PMID:16466958|PMID:16488172|PMID:16602100|PMID:16641220|PMID:17188916|PMID:17576681|PMID:17622945|PMID:17642054|PMID:17661081|PMID:18285246|PMID:18304851|PMID:18411069|PMID:18459892|PMID:18683078|PMID:18775954|PMID:19167251|PMID:19433275|PMID:19433437|PMID:20084589|PMID:20514322|PMID:20732827|PMID:20836999|PMID:20960650|PMID:20978942|PMID:21031586|PMID:21176883|PMID:21228398|PMID:21811973|PMID:21820344|PMID:21912879|PMID:22106832|PMID:22231382|PMID:22728054|PMID:22771013|PMID:23104440|PMID:23225040|PMID:23395213|PMID:23884036|PMID:24332224|PMID:24795062|PMID:24973495|PMID:25087612|PMID:25190159|PMID:25204480|PMID:25255367|PMID:25256449|PMID:25590979|PMID:25741868|PMID:25762492|PMID:25863083|PMID:26071121|PMID:26316201|PMID:26589311|PMID:26656312|PMID:26674492|PMID:26847429|PMID:27351573|PMID:27397597|PMID:27476540|PMID:27629047|PMID:27672653|PMID:27848944|PMID:27896087|PMID:28062662|PMID:28143689|PMID:28302372|PMID:28352331|PMID:28389991|PMID:28411331|PMID:28438223|PMID:28492532|PMID:28781846|PMID:28794906|PMID:28991257|PMID:29034175|PMID:29068549|PMID:29086383|PMID:29111448|PMID:29201125|PMID:29292490|PMID:29335023|PMID:29419857|PMID:29458885|PMID:29555771|PMID:29665094|PMID:30203563|PMID:30217722|PMID:30298489|PMID:30512148|PMID:30570710|PMID:30838026|PMID:30838298|PMID:30904546|PMID:31062211|PMID:31130284|PMID:31302874|PMID:31319225|PMID:31491587|PMID:31515781|PMID:31589614|PMID:31737040|PMID:31788423|PMID:31893530|PMID:31952437|PMID:32005694|PMID:32240488|PMID:32508882|PMID:32777384|PMID:32778825|PMID:32992790|PMID:33015233|PMID:33064266|PMID:33123633|PMID:33138774|PMID:33578440|PMID:33728242|PMID:33965309|PMID:34012862|PMID:34207159|PMID:34302356|PMID:34306040|PMID:34344405|PMID:34394177|PMID:34490048|PMID:34504725|PMID:34512980|PMID:34517439|PMID:34964964|PMID:35281663|PMID:35367405|PMID:35662016|PMID:35822093|PMID:36544340|PMID:36906724|PMID:36913764|PMID:37020324|PMID:37078465|PMID:37317575|PMID:37597066|PMID:37685964|PMID:38137040|PMID:38374498|PMID:38495240|PMID:38582244|PMID:38703036|PMID:38924972|PMID:39519275|PMID:39670100|PMID:40361251|PMID:40517577|PMID:6377226|PMID:7795610|PMID:8541831|PMID:8900227|PMID:8900228|PMID:9266361|PMID:9536098|PMID:9600243|PMID:9711871|PMID:9856558|PMID:9881681
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:0111254	glutaric acidemia I		ISO	RGD:1318827	D	RGD:13515124|PMID:28545977	20180409	RGD			
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:0111254	glutaric acidemia I		ISS	RGD:1318827	D	RGD:13592920	20230718	MouseDO		OMIM:231670	
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:0111400	congenital dyserythropoietic anemia type IVa		ISO	RGD:8556622	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL, WITH HEREDITARY PERSISTENCE OF FETAL AND EMBRYONIC HEMOGLOBIN	PMID:11825066|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31536184|PMID:7795610|PMID:9536098
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:1059	intellectual disability		ISO	RGD:1318826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:1115	sarcoma		ISO	RGD:1318826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:1318826	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:1826	epilepsy		ISO	RGD:1318826	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:31319225
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:1318826	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:3070	high grade glioma		ISO	RGD:1318826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318826	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318826	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:1318826	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:37020324
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318826	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10649503|PMID:10699052|PMID:10960496|PMID:11073722|PMID:18775954|PMID:20732827|PMID:24973495|PMID:25256449|PMID:25741868|PMID:25762492|PMID:28062662|PMID:28352331|PMID:28438223|PMID:28492532|PMID:28794906|PMID:30570710|PMID:31062211|PMID:31319225|PMID:33965309|PMID:34504725|PMID:8900227|PMID:9600243
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318826	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:16377226|PMID:20514322|PMID:21176883|PMID:25741868|PMID:26656312|PMID:28143689|PMID:28389991|PMID:28492532|PMID:31319225|PMID:6377226|PMID:9711871
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318826	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:9009132	Glutaric Aciduria		ISO	RGD:1318826	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glutaric aciduria	PMID:25741868|PMID:28492532
1308829	Gcdh	glutaryl-CoA dehydrogenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:0050587	trichotillomania		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichotillomania	PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:0060286	combined oxidative phosphorylation deficiency		ISS	RGD:1553062	D	RGD:13592920	20180518	MouseDO		OMIM:300816 | OMIM:609060 | OMIM:610498 | OMIM:610505 | OMIM:610678 | OMIM:611719 | OMIM:613559 | OMIM:614096 | OMIM:614582 | OMIM:614702 | OMIM:614922 | OMIM:614924 | OMIM:614932 | OMIM:614946 | OMIM:614947 | OMIM:615395 | OMIM:615440 | OMIM:615578 | OMIM:615595 | OMIM:615917 | OMIM:615918 | OMIM:616045 | OMIM:616198 | OMIM:616239	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:0111480	combined oxidative phosphorylation deficiency 10		ISO	RGD:1318828	D	RGD:7240710	20140903	OMIM			
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:0111480	combined oxidative phosphorylation deficiency 10		ISO	RGD:1318828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 10 | ClinVar Annotator: match by term: MTO1-related condition | ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	PMID:16199547|PMID:17576681|PMID:22608499|PMID:23929671|PMID:24033266|PMID:25058219|PMID:25640679|PMID:25741868|PMID:25741892|PMID:26061759|PMID:26539891|PMID:27256614|PMID:28492532|PMID:29331171|PMID:30369941|PMID:30831263|PMID:31451716|PMID:31589614|PMID:31842146|PMID:32489883|PMID:33258288|PMID:34990597|PMID:38703036|PMID:40757025|PMID:9536098
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:1115	sarcoma		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1318828	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:1324	lung cancer		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:1909	melanoma		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:2468	psychotic disorder		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:3275	thymoma		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:4189	mutism		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318828	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:539	ophthalmoplegia		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ophthalmoplegia	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:630	genetic disease		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532|PMID:31842146
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:9000727	Syncope		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:9003132	Sialorrhea		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:936	brain disease		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532
1308830	Mto1	mitochondrial tRNA translation optimization 1	gene	DOID:9970	obesity		ISO	RGD:1318828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532
1308831	Creb3	cAMP responsive element binding protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308831	Creb3	cAMP responsive element binding protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1318829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308831	Creb3	cAMP responsive element binding protein 3	gene	DOID:1909	melanoma		ISO	RGD:1318829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308831	Creb3	cAMP responsive element binding protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308831	Creb3	cAMP responsive element binding protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308831	Creb3	cAMP responsive element binding protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308831	Creb3	cAMP responsive element binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308831	Creb3	cAMP responsive element binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:0060058	lymphoma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:1059	intellectual disability		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:33980485
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:10907	microcephaly		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:33980485
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:3070	high grade glioma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1318831	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:630	genetic disease		ISO	RGD:1318831	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:9003507	Premature Birth		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318831	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33980485
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:9007573	Flatfoot		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:9007661	Dwarfism		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:33980485
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318831	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:9008421	Epistaxis		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:33980485
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308832	Smarca5	SNF2 related chromatin remodeling ATPase 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308833	Mbd3l2	methyl-CpG binding domain protein 3-like 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1601828	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:0060254	Robinow syndrome		ISO	RGD:1318833	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:0060254	Robinow syndrome		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome | ClinVar Annotator: match by term: Robinow syndrome	
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:0060765	autosomal dominant Robinow syndrome 2		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2	PMID:29276006
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:0060766	autosomal dominant Robinow syndrome 1		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1	PMID:25741868
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:0060767	autosomal dominant Robinow syndrome 3		ISO	RGD:1318833	D	RGD:7240710	20190315	OMIM			
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:0060767	autosomal dominant Robinow syndrome 3		ISO	RGD:1318833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 | ClinVar Annotator: match by term: DVL3-related condition | ClinVar Annotator: match by term: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 3 | ClinVar Annotator: match by term: autosomal dominant Robinow syndrome 3	PMID:17576681|PMID:25741868|PMID:26924530|PMID:28492532|PMID:9536098
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1318833	D	RGD:153297750|PMID:29193083	20220721	RGD		DNA:SNP:intron:rs1969253 (human)	
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:630	genetic disease		ISO	RGD:1318833	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1318833	D	RGD:8554872	20191112	ClinVar		ClinVar Annotator: match by term: Short stature	
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:9008214	Genu Valgum		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	
1308834	Dvl3	dishevelled segment polarity protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308835	Gpc5	glypican 5	gene	DOID:10534	stomach cancer		ISO	RGD:1318835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308835	Gpc5	glypican 5	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1318835	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:21441931
1308835	Gpc5	glypican 5	gene	DOID:1909	melanoma		ISO	RGD:1318835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308835	Gpc5	glypican 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308835	Gpc5	glypican 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308835	Gpc5	glypican 5	gene	DOID:9001542	Albuminuria		ISO	RGD:1318835	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:21441931
1308835	Gpc5	glypican 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308836	Pced1a	PC-esterase domain containing 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308836	Pced1a	PC-esterase domain containing 1A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308836	Pced1a	PC-esterase domain containing 1A	gene	DOID:3070	high grade glioma		ISO	RGD:1318837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308836	Pced1a	PC-esterase domain containing 1A	gene	DOID:3275	thymoma		ISO	RGD:1318837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308836	Pced1a	PC-esterase domain containing 1A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308836	Pced1a	PC-esterase domain containing 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308836	Pced1a	PC-esterase domain containing 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308836	Pced1a	PC-esterase domain containing 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308837	Cldn6	claudin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308837	Cldn6	claudin 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308838	Krt23	keratin 23	gene	DOID:1115	sarcoma		ISO	RGD:1318841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308838	Krt23	keratin 23	gene	DOID:1324	lung cancer		ISO	RGD:1318841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308838	Krt23	keratin 23	gene	DOID:4362	cervical cancer		ISO	RGD:1318841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308838	Krt23	keratin 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308838	Krt23	keratin 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308838	Krt23	keratin 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308839	Tmeff2	transmembrane protein with EGF-like and two follistatin-like domains 2	gene	DOID:10283	prostate cancer		ISO	RGD:1318843	D	RGD:2290490|PMID:15299075	20080314	RGD			
1308839	Tmeff2	transmembrane protein with EGF-like and two follistatin-like domains 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1318843	D	RGD:2290485|PMID:16500022	20080314	RGD			
1308839	Tmeff2	transmembrane protein with EGF-like and two follistatin-like domains 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1318843	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1308839	Tmeff2	transmembrane protein with EGF-like and two follistatin-like domains 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318843	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23405127
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1318845	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: MAN2B2-related disorder	
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:1115	sarcoma		ISO	RGD:1318845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318845	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1318845	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Congenital disorders of glycosylation	PMID:31775018
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1318845	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:9009325	Congenital disorder of glycosylation, type 1EE		ISO	RGD:1318845	D	RGD:7240710	20250423	OMIM			
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:9009325	Congenital disorder of glycosylation, type 1EE		ISO	RGD:1318845	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1EE with or without immunodeficiency	PMID:25741868
1308840	Man2b2	mannosidase, alpha, class 2B, member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308843	Cyp26c1	cytochrome P450, family 26, subfamily C, polypeptide 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308843	Cyp26c1	cytochrome P450, family 26, subfamily C, polypeptide 1	gene	DOID:1115	sarcoma		ISO	RGD:1318849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308843	Cyp26c1	cytochrome P450, family 26, subfamily C, polypeptide 1	gene	DOID:1909	melanoma		ISO	RGD:1318849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308843	Cyp26c1	cytochrome P450, family 26, subfamily C, polypeptide 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308843	Cyp26c1	cytochrome P450, family 26, subfamily C, polypeptide 1	gene	DOID:9000745	Focal Facial Dermal Dysplasia		ISO	RGD:1318849	D	RGD:11554173	20220208	CTD		CTD Direct Evidence: marker/mechanism	
1308843	Cyp26c1	cytochrome P450, family 26, subfamily C, polypeptide 1	gene	DOID:9000763	Focal Facial Dermal Dysplasia 4		ISO	RGD:1318849	D	RGD:7240710	20140911	OMIM			
1308843	Cyp26c1	cytochrome P450, family 26, subfamily C, polypeptide 1	gene	DOID:9000763	Focal Facial Dermal Dysplasia 4		ISO	RGD:1318849	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYP26C1-related condition	PMID:23161670|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29263414|PMID:39828664
1308844	Cpne4	copine 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308844	Cpne4	copine 4	gene	DOID:10534	stomach cancer		ISO	RGD:1318850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308844	Cpne4	copine 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308844	Cpne4	copine 4	gene	DOID:1324	lung cancer		ISO	RGD:1318850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308844	Cpne4	copine 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308844	Cpne4	copine 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308844	Cpne4	copine 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:0060058	lymphoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:10534	stomach cancer		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:1115	sarcoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:1909	melanoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:3068	glioblastoma		ISO	RGD:1318851	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:20127710
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1318851	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17233834
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1318851	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17233834
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318851	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1318851	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17443689
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308845	Reck	reversion-inducing-cysteine-rich protein with kazal motifs	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1318851	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:20127710
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:0040084	Streptococcus pneumonia	severity	ISO	RGD:1318854	D	RGD:35316076|PMID:22492852	20200708	RGD			
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:11476	osteoporosis		ISS	RGD:1318854	D	RGD:13592920	20180518	MouseDO		OMIM:166710	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:13272	Klebsiella pneumonia		ISO	RGD:1318854	D	RGD:36049798|PMID:20864681	20200721	RGD		mRNA:increased expression:lung (mouse)	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:13272	Klebsiella pneumonia	severity	ISO	RGD:1318854	D	RGD:35316077|PMID:22729155	20200708	RGD			
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:2841	asthma		ISO	RGD:1318853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5 | ClinVar Annotator: match by term: IRAK3-related condition	PMID:25741868|PMID:28492532
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1318853	D	RGD:7240710	20190502	OMIM			
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318853	D	RGD:9068941	20200723	RGD		mRNA:increased expression:lung (human)	PMID:21278795|REF_RGD_ID:36049796
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:399	tuberculosis		ISO	RGD:1318853	D	RGD:36049800|PMID:19535630	20200721	RGD		mRNA, protein:increased expression:sputum (human)	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318853	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:5052	melioidosis		ISO	RGD:1318853	D	RGD:36049801|PMID:19114913	20200721	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:874	bacterial pneumonia		ISO	RGD:1318854	D	RGD:34888234|PMID:28120642	20200706	RGD			
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:874	bacterial pneumonia		ISO	RGD:1318854	D	RGD:36049799|PMID:20439918	20200721	RGD			
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:9000109	Haemophilus Infections	severity	ISO	RGD:1318854	D	RGD:11527046|PMID:25585690	20200706	RGD			
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:9000684	Porcine Reproductive and Respiratory Syndrome		ISO	RGD:14200541	D	RGD:9068941	20200723	RGD		mRNA:increased expression:peripheral blood mononuclear cell (pig)	PMID:26022073|REF_RGD_ID:36049793
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:9002786	Surgical Wound Infection		ISO	RGD:1318853	D	RGD:34888232|PMID:28214365	20200706	RGD		associated with colorectal cancer; mRNA:increased expression: plasma, leukocyte (human)	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:9002827	Porcine Postweaning Multisystemic Wasting Syndrome		ISO	RGD:14200541	D	RGD:9068941	20200723	RGD		associated with Porcine Reproductive and Respiratory Syndrome; mRNA:decreased expression:peripheral blood mononuclear cell (pig)	PMID:26022073|REF_RGD_ID:36049793
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:9002953	Escherichia Coli Infections	treatment	ISO	RGD:14200541	D	RGD:9068941	20200723	RGD			PMID:27832756|REF_RGD_ID:34888235
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:9003690	Carcinoma, Lewis Lung		ISO	RGD:1318853	D	RGD:36049796|PMID:21278795	20200721	RGD			
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1318853	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:25780291
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1318854	D	RGD:36049795|PMID:21577093	20200721	RGD		mRNA, protein:increased expression:lung (mouse)	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:9005930	Endotoxemia		ISO	RGD:1318853	D	RGD:36049802|PMID:17982103	20200721	RGD		mRNA, protein:increased expression:blood (human)	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:9006493	Glandular and Epithelial Neoplasms		ISO	RGD:1318854	D	RGD:34888231|PMID:28713897	20200706	RGD		associated with ulcerative colitis;mRNA, protein:decreased expression:colon (mouse)	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:9007417	Pseudomonas Infections	severity	ISO	RGD:1318854	D	RGD:36049803|PMID:16917541	20200721	RGD		associated with Sepsis	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:9008885	Staphylococcal Infections	treatment	ISO	RGD:1318854	D	RGD:34888230|PMID:28954388	20200706	RGD			
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308846	Irak3	interleukin-1 receptor-associated kinase 3	gene	DOID:9744	type 1 diabetes mellitus		ISS	RGD:1318854	D	RGD:13592920	20180518	MouseDO		OMIM:222100	
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606482	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1606482	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:9007161	Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type		ISO	RGD:1606482	D	RGD:7240710	20160120	OMIM			
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:9007161	Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type		ISO	RGD:1606482	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RSPRY1-related condition | ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	PMID:25741868|PMID:28492532
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1308847	Rspry1	ring finger and SPRY domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308848	Ogfod1	2-oxoglutarate and iron-dependent oxygenase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308848	Ogfod1	2-oxoglutarate and iron-dependent oxygenase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308848	Ogfod1	2-oxoglutarate and iron-dependent oxygenase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605373	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308848	Ogfod1	2-oxoglutarate and iron-dependent oxygenase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308849	Rdh5	retinol dehydrogenase 5	gene	DOID:11105	fundus albipunctatus		ISO	RGD:1318857	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:18048336|PMID:25526675
1308849	Rdh5	retinol dehydrogenase 5	gene	DOID:11105	fundus albipunctatus		ISO	RGD:1318857	D	RGD:7240710	20130221	OMIM			
1308849	Rdh5	retinol dehydrogenase 5	gene	DOID:11830	myopia		ISO	RGD:1318857	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23396134
1308849	Rdh5	retinol dehydrogenase 5	gene	DOID:8499	night blindness		ISO	RGD:1318857	D	RGD:1599416|PMID:10617778	20070201	RGD		fundus albipunctatus (congenital night-blindness disorder), OMIM:601617	
1308849	Rdh5	retinol dehydrogenase 5	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:1318857	D	RGD:1599416|PMID:10617778	20070201	RGD		fundus albipunctatus (congenital night-blindness disorder), OMIM:601617	
1308851	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:0060058	lymphoma		ISO	RGD:1318860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308851	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:0060699	familial hypocalciuric hypercalcemia		ISO	RGD:1318860	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis	PMID:25741868|PMID:28492532
1308851	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:0080600	COVID-19		ISO	RGD:1318860	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308851	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:0111671	primary hyperoxaluria type 2		ISO	RGD:1318860	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308851	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:0111671	primary hyperoxaluria type 2		ISO	RGD:1318860	D	RGD:7240710	20130221	OMIM			
1308851	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:0111671	primary hyperoxaluria type 2		ISO	RGD:1318860	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: D-glycerate dehydrogenase deficiency | ClinVar Annotator: match by term: Primary hyperoxaluria type II | ClinVar Annotator: match by term: Primary hyperoxaluria, type II	PMID:11030416|PMID:11477177|PMID:14635115|PMID:14987413|PMID:16199547|PMID:16306119|PMID:17510093|PMID:17576681|PMID:19283374|PMID:19296982|PMID:20301742|PMID:22397991|PMID:24033266|PMID:24116921|PMID:25410531|PMID:25525159|PMID:25629080|PMID:25644115|PMID:25741868|PMID:28492532|PMID:28553045|PMID:28681512|PMID:28893421|PMID:29068142|PMID:29319775|PMID:30488096|PMID:30889567|PMID:31078535|PMID:31215412|PMID:31328266|PMID:31685312|PMID:34805638|PMID:3499572|PMID:35149915|PMID:35678848|PMID:35917078|PMID:36185032|PMID:36260161|PMID:37139236|PMID:37187295|PMID:37306718|PMID:37914965|PMID:38727838|PMID:38737343|PMID:40794449|PMID:40814648|PMID:9536098
1308851	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:0111671	primary hyperoxaluria type 2		ISS	RGD:1318861	D	RGD:13592920	20230718	MouseDO		OMIM:260000	
1308851	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:1115	sarcoma		ISO	RGD:1318860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308851	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:1909	melanoma		ISO	RGD:1318860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308851	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:2237	hepatitis		ISO	RGD:1318860	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: hepatitis	PMID:11030416|PMID:12185464|PMID:14635115|PMID:24116921|PMID:25629080|PMID:25741868|PMID:26342005|PMID:28492532|PMID:28553045|PMID:31685312|PMID:36619171|PMID:37803380|PMID:37881736|PMID:37914965|PMID:40794449
1308851	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:2977	primary hyperoxaluria		ISO	RGD:1318860	D	RGD:1599318|PMID:10484776	20070130	RGD		type II primary hyperoxaluria, OMIM:260000	
1308851	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308851	Grhpr	glyoxylate and hydroxypyruvate reductase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318860	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1308852	Usp3	ubiquitin specific peptidase 3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1318862	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1308852	Usp3	ubiquitin specific peptidase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308852	Usp3	ubiquitin specific peptidase 3	gene	DOID:1909	melanoma		ISO	RGD:1318862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308852	Usp3	ubiquitin specific peptidase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308852	Usp3	ubiquitin specific peptidase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308852	Usp3	ubiquitin specific peptidase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308852	Usp3	ubiquitin specific peptidase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308852	Usp3	ubiquitin specific peptidase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308852	Usp3	ubiquitin specific peptidase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308853	Kank3	KN motif and ankyrin repeat domains 3	gene	DOID:0080600	COVID-19		ISO	RGD:1602171	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308853	Kank3	KN motif and ankyrin repeat domains 3	gene	DOID:1115	sarcoma		ISO	RGD:1602171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308853	Kank3	KN motif and ankyrin repeat domains 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308853	Kank3	KN motif and ankyrin repeat domains 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1602171	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308853	Kank3	KN motif and ankyrin repeat domains 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308854	Thumpd1	THUMP domain 1 NAT10 acetyltransferase adaptor	gene	DOID:9004131	NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES		ISO	RGD:1318865	D	RGD:7240710	20221221	OMIM			
1308856	Rnf144b	ring finger protein 144B	gene	DOID:1115	sarcoma		ISO	RGD:1318869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308856	Rnf144b	ring finger protein 144B	gene	DOID:1324	lung cancer		ISO	RGD:1318869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308856	Rnf144b	ring finger protein 144B	gene	DOID:4362	cervical cancer		ISO	RGD:1318869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308856	Rnf144b	ring finger protein 144B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308856	Rnf144b	ring finger protein 144B	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1318869	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29724995
1308856	Rnf144b	ring finger protein 144B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:0080209	sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay		ISO	RGD:1318871	D	RGD:7240710	20170412	OMIM			
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:0080209	sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	PMID:24033266|PMID:25193871|PMID:25652405|PMID:25741868|PMID:27317422|PMID:27370603|PMID:28492532|PMID:29454993|PMID:31019026|PMID:31980526|PMID:37215601
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:0080284	developmental and epileptic encephalopathy 57		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 57	PMID:25193871|PMID:25741868|PMID:26494905|PMID:28492532|PMID:29358286
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:1909	melanoma		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:2841	asthma		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:3275	thymoma		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:5723	optic atrophy		ISO	RGD:1318871	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:630	genetic disease		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25193871|PMID:25652405|PMID:25741868|PMID:27389523|PMID:27531075|PMID:27943079|PMID:28492532|PMID:29358286|PMID:30758723|PMID:31980526|PMID:33493307|PMID:34864912
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:24033266|PMID:25193871|PMID:25741868|PMID:27389523|PMID:27531075|PMID:27943079|PMID:28492532|PMID:29358286|PMID:30758723|PMID:31980526|PMID:34864912
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:9002040	RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS		ISO	RGD:1318871	D	RGD:7240710	20190315	OMIM			
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:9002040	RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS		ISO	RGD:1318871	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS | ClinVar Annotator: match by term: Retinitis pigmentosa and erythrocytic microcytosis | ClinVar Annotator: match by term: TRNT1-Related Disorders | ClinVar Annotator: match by term: TRNT1-related condition	PMID:24033266|PMID:25193871|PMID:25652405|PMID:25741868|PMID:26494905|PMID:27389523|PMID:27531075|PMID:27943079|PMID:28390992|PMID:28492532|PMID:29358286|PMID:30758723|PMID:31980526|PMID:32371413|PMID:33332575|PMID:33493307|PMID:33646446|PMID:34864912|PMID:36937953|PMID:37467750
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:28492532
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
1308857	Trnt1	tRNA nucleotidyl transferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308858	Slitrk1	SLIT and NTRK-like family, member 1	gene	DOID:0050587	trichotillomania		ISO	RGD:1318872	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308858	Slitrk1	SLIT and NTRK-like family, member 1	gene	DOID:0050587	trichotillomania		ISO	RGD:1318872	D	RGD:7240710	20130221	OMIM			
1308858	Slitrk1	SLIT and NTRK-like family, member 1	gene	DOID:0050587	trichotillomania		ISO	RGD:1318872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichotillomania	PMID:25741868
1308858	Slitrk1	SLIT and NTRK-like family, member 1	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:1318872	D	RGD:11554173	20250204	CTD		CTD Direct Evidence: marker/mechanism	
1308858	Slitrk1	SLIT and NTRK-like family, member 1	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:1318872	D	RGD:7240710	20130731	OMIM			
1308858	Slitrk1	SLIT and NTRK-like family, member 1	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:1318872	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GILLES DE LA TOURETTE SYNDROME | ClinVar Annotator: match by term: Tourette syndrome	PMID:17003809|PMID:19018236|PMID:20301778|PMID:22942103|PMID:23528612|PMID:23835198|PMID:25741868|PMID:27812321
1308858	Slitrk1	SLIT and NTRK-like family, member 1	gene	DOID:11119	Gilles de la Tourette syndrome		ISS	RGD:1551107	D	RGD:13592920	20230718	MouseDO		OMIM:137580	
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:11586916|RGD:11587381|RGD:11597548|RGD:11603717|RGD:11607344|RGD:11607661|RGD:11607998|RGD:11610868|RGD:11611006|RGD:11652628|RGD:11656384|RGD:11659874|RGD:11662401|RGD:11664065	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young	
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:0111109	maturity-onset diabetes of the young type 11		ISO	RGD:1318874	D	RGD:7240710	20130221	OMIM			
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:0111109	maturity-onset diabetes of the young type 11		ISO	RGD:1318874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BLK-related condition | ClinVar Annotator: match by term: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 | ClinVar Annotator: match by term: MODY11 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11	PMID:18204098|PMID:19667185|PMID:24023612|PMID:25741868|PMID:28095440|PMID:28492532|PMID:30191644|PMID:31101814|PMID:31670388|PMID:32313195
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1318874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:13378	Kawasaki disease		ISO	RGD:1318874	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446961
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:150333719	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:32748548
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:1318874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:28492532
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1318874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1318874	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842|PMID:23143596
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:9007838	Myocardial Reperfusion Injury		IEP		D	RGD:1642307|PMID:17562528	20100128	RGD		mRNA:increased expression:left ventricle (rat)	
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1318874	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838193
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1318874	D	RGD:2316189|PMID:19180478	20100128	RGD		DNA:snp:promoter:rs13277113 (human)	
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1318874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:18204098|PMID:19667185|PMID:24023612|PMID:25741868|PMID:28492532|PMID:31101814|PMID:31670388|PMID:32313195
1308859	Blk	BLK proto-oncogene, Src family tyrosine kinase	gene	DOID:9351	diabetes mellitus		ISO	RGD:1318874	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes | ClinVar Annotator: match by term: monogenic diabetes	PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532
1308860	Pdzrn4	PDZ domain containing RING finger 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308860	Pdzrn4	PDZ domain containing RING finger 4	gene	DOID:10325	silicosis		ISO	RGD:1318876	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24986923
1308860	Pdzrn4	PDZ domain containing RING finger 4	gene	DOID:10534	stomach cancer		ISO	RGD:1318876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308860	Pdzrn4	PDZ domain containing RING finger 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308860	Pdzrn4	PDZ domain containing RING finger 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308861	Ppp1r27	protein phosphatase 1, regulatory subunit 27	gene	DOID:3275	thymoma		ISO	RGD:1346366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308862	Sec62	SEC62 preprotein translocation factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308862	Sec62	SEC62 preprotein translocation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308862	Sec62	SEC62 preprotein translocation factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308862	Sec62	SEC62 preprotein translocation factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1318878	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308862	Sec62	SEC62 preprotein translocation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308862	Sec62	SEC62 preprotein translocation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308862	Sec62	SEC62 preprotein translocation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308863	Adhfe1	alcohol dehydrogenase, iron containing, 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308863	Adhfe1	alcohol dehydrogenase, iron containing, 1	gene	DOID:1324	lung cancer		ISO	RGD:1318880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308863	Adhfe1	alcohol dehydrogenase, iron containing, 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308863	Adhfe1	alcohol dehydrogenase, iron containing, 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318880	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308863	Adhfe1	alcohol dehydrogenase, iron containing, 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308863	Adhfe1	alcohol dehydrogenase, iron containing, 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308863	Adhfe1	alcohol dehydrogenase, iron containing, 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308863	Adhfe1	alcohol dehydrogenase, iron containing, 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318880	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308864	Fus	Fus RNA binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308864	Fus	Fus RNA binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1308864	Fus	Fus RNA binding protein	gene	DOID:0060198	amyotrophic lateral sclerosis type 6		ISO	RGD:1318882	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308864	Fus	Fus RNA binding protein	gene	DOID:0060198	amyotrophic lateral sclerosis type 6		ISO	RGD:1318882	D	RGD:7240710	20130425	OMIM			
1308864	Fus	Fus RNA binding protein	gene	DOID:0060198	amyotrophic lateral sclerosis type 6		ISO	RGD:1318882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6	PMID:17576681|PMID:19251627|PMID:19251628|PMID:19450904|PMID:19741215|PMID:19861302|PMID:20018407|PMID:20138404|PMID:20142531|PMID:20385912|PMID:20472325|PMID:20544928|PMID:20577002|PMID:20579074|PMID:20598774|PMID:20606625|PMID:20621307|PMID:20660363|PMID:20668259|PMID:20668261|PMID:21109527|PMID:21158017|PMID:21261515|PMID:21280085|PMID:21604077|PMID:21881207|PMID:21907581|PMID:21943958|PMID:21949354|PMID:22055719|PMID:22057404|PMID:22292843|PMID:22340366|PMID:22980027|PMID:23056579|PMID:23085990|PMID:23217123|PMID:23257289|PMID:23474818|PMID:23577159|PMID:23834483|PMID:23847048|PMID:23881933|PMID:24036913|PMID:24080306|PMID:24204307|PMID:24280224|PMID:24899262|PMID:25173930|PMID:25289647|PMID:25324524|PMID:25382069|PMID:25585530|PMID:25625564|PMID:25681989|PMID:25741868|PMID:26176978|PMID:26251528|PMID:26467025|PMID:26500017|PMID:26601740|PMID:26725112|PMID:26788680|PMID:26795035|PMID:27123482|PMID:27604643|PMID:28273913|PMID:28288521|PMID:28429524|PMID:28430856|PMID:28492532|PMID:28642336|PMID:28717666|PMID:28812062|PMID:29525178|PMID:29547565|PMID:30279455|PMID:30747709|PMID:31405128|PMID:31630970|PMID:31692161|PMID:33159016|PMID:33408239|PMID:34518945|PMID:38540370|PMID:9536098
1308864	Fus	Fus RNA binding protein	gene	DOID:0060198	amyotrophic lateral sclerosis type 6		ISO	RGD:1318882	D	RGD:9685712|PMID:19251628	20150122	RGD		DNA:mutations:cds:	
1308864	Fus	Fus RNA binding protein	gene	DOID:0060198	amyotrophic lateral sclerosis type 6		ISS	RGD:1318883	D	RGD:13592920	20230718	MouseDO		OMIM:608030	
1308864	Fus	Fus RNA binding protein	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1318882	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:19251627|PMID:19251628|PMID:20577002|PMID:20621307|PMID:22055719|PMID:22340366|PMID:23217123|PMID:25741868|PMID:26500017|PMID:27604643|PMID:28430856|PMID:28492532
1308864	Fus	Fus RNA binding protein	gene	DOID:0111431	essential tremor 4		ISO	RGD:1318882	D	RGD:7240710	20140903	OMIM			
1308864	Fus	Fus RNA binding protein	gene	DOID:0111431	essential tremor 4		ISO	RGD:1318882	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FUS-related condition | ClinVar Annotator: match by term: TREMOR, HEREDITARY ESSENTIAL, 4 | ClinVar Annotator: match by term: Tremor, hereditary essential, 4	PMID:16199547|PMID:19251627|PMID:19251628|PMID:19450904|PMID:19741215|PMID:19861302|PMID:19967541|PMID:20018407|PMID:20124201|PMID:20138404|PMID:20142531|PMID:20232451|PMID:20385912|PMID:20472325|PMID:20544928|PMID:20577002|PMID:20579074|PMID:20598774|PMID:20606625|PMID:20621307|PMID:20660363|PMID:20668259|PMID:20668261|PMID:20674093|PMID:20699327|PMID:21128870|PMID:21158017|PMID:21261515|PMID:21280085|PMID:21487023|PMID:21604077|PMID:21881207|PMID:21907581|PMID:21943958|PMID:21949354|PMID:21965298|PMID:22055719|PMID:22292843|PMID:22340366|PMID:22980027|PMID:23046859|PMID:23056579|PMID:23085990|PMID:23217123|PMID:23577159|PMID:23834335|PMID:23834483|PMID:23881933|PMID:24080306|PMID:24204307|PMID:24262168|PMID:24509083|PMID:24575823|PMID:24899262|PMID:24908169|PMID:25173930|PMID:25324524|PMID:25382069|PMID:25585530|PMID:25625564|PMID:25631824|PMID:25681989|PMID:25741868|PMID:26035390|PMID:26176978|PMID:26251528|PMID:26467025|PMID:26500017|PMID:26725112|PMID:27123482|PMID:27604643|PMID:28288521|PMID:28430856|PMID:28492532|PMID:28812062|PMID:29362359|PMID:29525178|PMID:30279455|PMID:31069529|PMID:32116048|PMID:32951934|PMID:33082139|PMID:33408239|PMID:36105853|PMID:36833445|PMID:38540370
1308864	Fus	Fus RNA binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308864	Fus	Fus RNA binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308864	Fus	Fus RNA binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1318882	D	RGD:5509905|PMID:21677541	20111111	RGD			
1308864	Fus	Fus RNA binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1318882	D	RGD:5509906|PMID:21658743	20111111	RGD			
1308864	Fus	Fus RNA binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308864	Fus	Fus RNA binding protein	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1318882	D	RGD:8554872	20181206	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	
1308864	Fus	Fus RNA binding protein	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1318882	D	RGD:5509901|PMID:21908872	20111110	RGD			
1308864	Fus	Fus RNA binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1308864	Fus	Fus RNA binding protein	gene	DOID:1909	melanoma		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308864	Fus	Fus RNA binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308864	Fus	Fus RNA binding protein	gene	DOID:3070	high grade glioma		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308864	Fus	Fus RNA binding protein	gene	DOID:3275	thymoma		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308864	Fus	Fus RNA binding protein	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1318882	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:28478440|PMID:29419416|PMID:29434138|PMID:30455313
1308864	Fus	Fus RNA binding protein	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1318882	D	RGD:5509900|PMID:22055719	20111110	RGD			
1308864	Fus	Fus RNA binding protein	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:19251627|PMID:19251628|PMID:20577002|PMID:20621307|PMID:22055719|PMID:22340366|PMID:23217123|PMID:25741868|PMID:26500017|PMID:27604643|PMID:28430856|PMID:28492532
1308864	Fus	Fus RNA binding protein	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1318882	D	RGD:9685710|PMID:21408206	20150122	RGD			
1308864	Fus	Fus RNA binding protein	gene	DOID:3382	liposarcoma		ISO	RGD:1318882	D	RGD:5509913|PMID:20332486	20111111	RGD			
1308864	Fus	Fus RNA binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308864	Fus	Fus RNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1318882	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308864	Fus	Fus RNA binding protein	gene	DOID:535	sleep disorder		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:19251627|PMID:19251628|PMID:20577002|PMID:20621307|PMID:22055719|PMID:22340366|PMID:23217123|PMID:25741868|PMID:26500017|PMID:27604643|PMID:28430856|PMID:28492532
1308864	Fus	Fus RNA binding protein	gene	DOID:5363	myxoid liposarcoma		ISO	RGD:1318882	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:7503811|PMID:8510758
1308864	Fus	Fus RNA binding protein	gene	DOID:543	dystonia		ISO	RGD:1318882	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1308864	Fus	Fus RNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308864	Fus	Fus RNA binding protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308864	Fus	Fus RNA binding protein	gene	DOID:630	genetic disease		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19741215|PMID:19861302|PMID:20018407|PMID:20138404|PMID:20142531|PMID:20655970|PMID:21158017|PMID:21261515|PMID:21943958|PMID:22292843|PMID:22340366|PMID:23834483|PMID:24080306|PMID:25382069|PMID:25585530|PMID:25741868|PMID:26176978|PMID:26467025|PMID:26725112|PMID:28430856|PMID:28492532|PMID:30270202|PMID:38540370|PMID:40225153
1308864	Fus	Fus RNA binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308864	Fus	Fus RNA binding protein	gene	DOID:8577	ulcerative colitis		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ulcerative colitis	PMID:19251627|PMID:19251628|PMID:20577002|PMID:20621307|PMID:22055719|PMID:22340366|PMID:23217123|PMID:25741868|PMID:26500017|PMID:27604643|PMID:28430856|PMID:28492532
1308864	Fus	Fus RNA binding protein	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1308864	Fus	Fus RNA binding protein	gene	DOID:9000276	Juvenile Amyotrophic Lateral Sclerosis		ISO	RGD:1318882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis	PMID:19251627|PMID:19450904|PMID:20579074|PMID:20606625|PMID:20668261|PMID:21280085|PMID:21604077|PMID:21881207|PMID:21907581|PMID:21949354|PMID:22980027|PMID:23056579|PMID:23085990|PMID:23881933|PMID:24899262|PMID:25173930|PMID:25625564|PMID:25741868|PMID:26251528|PMID:26467025|PMID:27123482|PMID:28492532|PMID:28812062
1308864	Fus	Fus RNA binding protein	gene	DOID:9001722	Dysarthria		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
1308864	Fus	Fus RNA binding protein	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1318882	D	RGD:5509902|PMID:21847626	20111110	RGD			
1308864	Fus	Fus RNA binding protein	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1318882	D	RGD:9685710|PMID:21408206	20150122	RGD			
1308864	Fus	Fus RNA binding protein	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1308864	Fus	Fus RNA binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308864	Fus	Fus RNA binding protein	gene	DOID:9008422	Nanophthalmos 4		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nanophthalmos 4	PMID:25741868
1308864	Fus	Fus RNA binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308864	Fus	Fus RNA binding protein	gene	DOID:9884	muscular dystrophy		ISO	RGD:1318882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:19251627|PMID:19251628|PMID:20577002|PMID:20621307|PMID:22055719|PMID:22340366|PMID:23217123|PMID:25741868|PMID:26500017|PMID:27604643|PMID:28430856|PMID:28492532
1308865	Gpatch2	G patch domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308865	Gpatch2	G patch domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308865	Gpatch2	G patch domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308865	Gpatch2	G patch domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1318884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308865	Gpatch2	G patch domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1318884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308865	Gpatch2	G patch domain containing 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1318884	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1308865	Gpatch2	G patch domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308865	Gpatch2	G patch domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308866	Map7	microtubule-associated protein 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308866	Map7	microtubule-associated protein 7	gene	DOID:10534	stomach cancer		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308866	Map7	microtubule-associated protein 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308866	Map7	microtubule-associated protein 7	gene	DOID:1115	sarcoma		ISO	RGD:1318886	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308866	Map7	microtubule-associated protein 7	gene	DOID:1324	lung cancer		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308866	Map7	microtubule-associated protein 7	gene	DOID:1909	melanoma		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308866	Map7	microtubule-associated protein 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308866	Map7	microtubule-associated protein 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308866	Map7	microtubule-associated protein 7	gene	DOID:4362	cervical cancer		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308866	Map7	microtubule-associated protein 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1318886	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308866	Map7	microtubule-associated protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308866	Map7	microtubule-associated protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308866	Map7	microtubule-associated protein 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308866	Map7	microtubule-associated protein 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308867	Arpc5l	actin related protein 2/3 complex, subunit 5-like	gene	DOID:1324	lung cancer		ISO	RGD:1318888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308867	Arpc5l	actin related protein 2/3 complex, subunit 5-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1318888	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308867	Arpc5l	actin related protein 2/3 complex, subunit 5-like	gene	DOID:9256	colorectal cancer		ISO	RGD:1318888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308868	Txndc17	thioredoxin domain containing 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308868	Txndc17	thioredoxin domain containing 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308868	Txndc17	thioredoxin domain containing 17	gene	DOID:1909	melanoma		ISO	RGD:1318890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308868	Txndc17	thioredoxin domain containing 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308868	Txndc17	thioredoxin domain containing 17	gene	DOID:3275	thymoma		ISO	RGD:1318890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308868	Txndc17	thioredoxin domain containing 17	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1318890	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
1308868	Txndc17	thioredoxin domain containing 17	gene	DOID:4362	cervical cancer		ISO	RGD:1318890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308868	Txndc17	thioredoxin domain containing 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308869	Akap10	A-kinase anchoring protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308869	Akap10	A-kinase anchoring protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308869	Akap10	A-kinase anchoring protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308869	Akap10	A-kinase anchoring protein 10	gene	DOID:1115	sarcoma		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308869	Akap10	A-kinase anchoring protein 10	gene	DOID:1324	lung cancer		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308869	Akap10	A-kinase anchoring protein 10	gene	DOID:4362	cervical cancer		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308869	Akap10	A-kinase anchoring protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:70080	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308869	Akap10	A-kinase anchoring protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308869	Akap10	A-kinase anchoring protein 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308869	Akap10	A-kinase anchoring protein 10	gene	DOID:9003163	Heart Block		ISO	RGD:70080	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Conduction disorder of the heart	PMID:25741868
1308869	Akap10	A-kinase anchoring protein 10	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308869	Akap10	A-kinase anchoring protein 10	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:70080	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:25741868
1308869	Akap10	A-kinase anchoring protein 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308869	Akap10	A-kinase anchoring protein 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:1115	sarcoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:1324	lung cancer		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:1909	melanoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:3275	thymoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1318892	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308870	Fhip2b	FHF complex subunit HOOK interacting protein 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308871	Eif3c	eukaryotic translation initiation factor 3, subunit C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308871	Eif3c	eukaryotic translation initiation factor 3, subunit C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16199547|PMID:28492532
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:0070013	Seckel syndrome 2		ISO	RGD:1317354	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:0070013	Seckel syndrome 2		ISO	RGD:1317354	D	RGD:7240710	20130221	OMIM			
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:0070013	Seckel syndrome 2		ISO	RGD:1317354	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RBBP8-Related Disorders | ClinVar Annotator: match by term: SECKEL SYNDROME 2 | ClinVar Annotator: match by term: SECKEL-TYPE DWARFISM 2 | ClinVar Annotator: match by term: Seckel syndrome 2	PMID:16199547|PMID:18414213|PMID:24389050|PMID:25741868|PMID:27848944|PMID:28492532
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:0080600	COVID-19		ISO	RGD:1317354	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:10534	stomach cancer		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:10907	microcephaly		ISO	RGD:1317354	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:1115	sarcoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:11830	myopia		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:3275	thymoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:4362	cervical cancer		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas	PMID:28492532
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:5041	esophageal cancer		ISO	RGD:1317354	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:630	genetic disease		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33057194|PMID:35982159
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:9004304	Plummer-Vinson Syndrome		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KELLY SYNDROME	PMID:25741868|PMID:28492532
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:9008107	Microcephaly with Mental Retardation and Digital Anomalies		ISO	RGD:1317354	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:9008107	Microcephaly with Mental Retardation and Digital Anomalies		ISO	RGD:1317354	D	RGD:7240710	20131030	OMIM			
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:9008107	Microcephaly with Mental Retardation and Digital Anomalies		ISO	RGD:1317354	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JAWAD SYNDROME | ClinVar Annotator: match by term: Jawad syndrome | ClinVar Annotator: match by term: KELLY SYNDROME | ClinVar Annotator: match by term: RBBP8-related condition | ClinVar Annotator: match by term: RBBP8-related disorder	PMID:17576681|PMID:18414213|PMID:25741868|PMID:28492532|PMID:9536098
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308872	Rbbp8	RB binding protein 8, endonuclease	gene	DOID:9538	multiple myeloma	exacerbates	ISO	RGD:1317354	D	RGD:401940173|PMID:30622325	20240103	RGD		mRNA:increased expression:bone marrow, plasma cell (human)	
1308873	Ano3	anoctamin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308873	Ano3	anoctamin 3	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	
1308873	Ano3	anoctamin 3	gene	DOID:0090052	dystonia 24		ISO	RGD:1318896	D	RGD:7240710	20140911	OMIM			
1308873	Ano3	anoctamin 3	gene	DOID:0090052	dystonia 24		ISO	RGD:1318896	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANO3-related disorder | ClinVar Annotator: match by term: DYSTONIA 24 | ClinVar Annotator: match by term: Dystonia 24 | ClinVar Annotator: match by term: dystonia 24	PMID:23200863|PMID:25741868|PMID:27392807|PMID:27666935|PMID:28492532|PMID:31053532|PMID:33388357|PMID:33640251
1308873	Ano3	anoctamin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308873	Ano3	anoctamin 3	gene	DOID:1115	sarcoma		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308873	Ano3	anoctamin 3	gene	DOID:12859	choreatic disease		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868
1308873	Ano3	anoctamin 3	gene	DOID:3275	thymoma		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308873	Ano3	anoctamin 3	gene	DOID:543	dystonia		ISO	RGD:1318896	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1308873	Ano3	anoctamin 3	gene	DOID:543	dystonia		ISO	RGD:1318896	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder	PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:27666935|PMID:28492532|PMID:29449182|PMID:30502610|PMID:31053532|PMID:9536098
1308873	Ano3	anoctamin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1308873	Ano3	anoctamin 3	gene	DOID:630	genetic disease		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308873	Ano3	anoctamin 3	gene	DOID:9002211	Hyperalgesia		IMP		D	RGD:9681745|PMID:23872594	20141205	RGD			
1308873	Ano3	anoctamin 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1308873	Ano3	anoctamin 3	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
1308873	Ano3	anoctamin 3	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1318896	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25344690
1308873	Ano3	anoctamin 3	gene	DOID:9008675	Dyskinesias		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:25741868|PMID:28492532|PMID:31053532
1308873	Ano3	anoctamin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308873	Ano3	anoctamin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308874	Apmap	adipocyte plasma membrane associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1318897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308874	Apmap	adipocyte plasma membrane associated protein	gene	DOID:1909	melanoma		ISO	RGD:1318897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308874	Apmap	adipocyte plasma membrane associated protein	gene	DOID:3275	thymoma		ISO	RGD:1318897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308874	Apmap	adipocyte plasma membrane associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1318897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308874	Apmap	adipocyte plasma membrane associated protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308874	Apmap	adipocyte plasma membrane associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308874	Apmap	adipocyte plasma membrane associated protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318897	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308874	Apmap	adipocyte plasma membrane associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308874	Apmap	adipocyte plasma membrane associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308875	Zdhhc8	zDHHC palmitoyltransferase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308875	Zdhhc8	zDHHC palmitoyltransferase 8	gene	DOID:10283	prostate cancer		ISO	RGD:1318899	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1308875	Zdhhc8	zDHHC palmitoyltransferase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1318899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308875	Zdhhc8	zDHHC palmitoyltransferase 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308875	Zdhhc8	zDHHC palmitoyltransferase 8	gene	DOID:4362	cervical cancer		ISO	RGD:1318899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308875	Zdhhc8	zDHHC palmitoyltransferase 8	gene	DOID:5419	schizophrenia		IEA		D	RGD:1331525|PMID:15118671	19990101	GAD			
1308875	Zdhhc8	zDHHC palmitoyltransferase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308875	Zdhhc8	zDHHC palmitoyltransferase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308875	Zdhhc8	zDHHC palmitoyltransferase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308875	Zdhhc8	zDHHC palmitoyltransferase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308877	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308877	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:1115	sarcoma		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308877	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:1909	melanoma		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308877	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308877	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308877	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308877	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308877	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308877	Trmt6	tRNA methyltransferase 6 non-catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308879	Amdhd1	amidohydrolase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308879	Amdhd1	amidohydrolase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1603900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308879	Amdhd1	amidohydrolase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1603900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308879	Amdhd1	amidohydrolase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308879	Amdhd1	amidohydrolase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308879	Amdhd1	amidohydrolase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308879	Amdhd1	amidohydrolase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308881	Ghdc	GH3 domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308881	Ghdc	GH3 domain containing	gene	DOID:0060058	lymphoma		ISO	RGD:1603379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308881	Ghdc	GH3 domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1603379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308881	Ghdc	GH3 domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308881	Ghdc	GH3 domain containing	gene	DOID:1909	melanoma		ISO	RGD:1603379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308881	Ghdc	GH3 domain containing	gene	DOID:3275	thymoma		ISO	RGD:1603379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308881	Ghdc	GH3 domain containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308881	Ghdc	GH3 domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308882	Sult2b1	sulfotransferase family 2B member 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318906	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308882	Sult2b1	sulfotransferase family 2B member 1	gene	DOID:0080258	autosomal recessive congenital ichthyosis 14		ISO	RGD:1318906	D	RGD:7240710	20190315	OMIM			
1308882	Sult2b1	sulfotransferase family 2B member 1	gene	DOID:0080258	autosomal recessive congenital ichthyosis 14		ISO	RGD:1318906	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 | ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 14 | ClinVar Annotator: match by term: SULT2B1-related condition	PMID:25741868|PMID:28492532|PMID:28575648
1308882	Sult2b1	sulfotransferase family 2B member 1	gene	DOID:13580	cholestasis		ISO	RGD:1318906	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:27052460
1308882	Sult2b1	sulfotransferase family 2B member 1	gene	DOID:630	genetic disease		ISO	RGD:1318906	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308882	Sult2b1	sulfotransferase family 2B member 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318906	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21716162
1308882	Sult2b1	sulfotransferase family 2B member 1	gene	DOID:9005372	Inflammation		ISO	RGD:1318906	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:27052460
1308882	Sult2b1	sulfotransferase family 2B member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308882	Sult2b1	sulfotransferase family 2B member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1318906	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:27052460
1308882	Sult2b1	sulfotransferase family 2B member 1	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1318906	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25437045
1308882	Sult2b1	sulfotransferase family 2B member 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318906	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:29766219
1308882	Sult2b1	sulfotransferase family 2B member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308884	Mcoln2	mucolipin TRP cation channel 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308884	Mcoln2	mucolipin TRP cation channel 2	gene	DOID:1909	melanoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308884	Mcoln2	mucolipin TRP cation channel 2	gene	DOID:3275	thymoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308884	Mcoln2	mucolipin TRP cation channel 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308884	Mcoln2	mucolipin TRP cation channel 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308884	Mcoln2	mucolipin TRP cation channel 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308884	Mcoln2	mucolipin TRP cation channel 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308884	Mcoln2	mucolipin TRP cation channel 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308884	Mcoln2	mucolipin TRP cation channel 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308884	Mcoln2	mucolipin TRP cation channel 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308885	Trim41	tripartite motif-containing 41	gene	DOID:10534	stomach cancer		ISO	RGD:1318911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308885	Trim41	tripartite motif-containing 41	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308885	Trim41	tripartite motif-containing 41	gene	DOID:1115	sarcoma		ISO	RGD:1318911	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308885	Trim41	tripartite motif-containing 41	gene	DOID:4362	cervical cancer		ISO	RGD:1318911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308885	Trim41	tripartite motif-containing 41	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308885	Trim41	tripartite motif-containing 41	gene	DOID:5041	esophageal cancer		ISO	RGD:1318911	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308885	Trim41	tripartite motif-containing 41	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308885	Trim41	tripartite motif-containing 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308885	Trim41	tripartite motif-containing 41	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308885	Trim41	tripartite motif-containing 41	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308885	Trim41	tripartite motif-containing 41	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308885	Trim41	tripartite motif-containing 41	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308887	Osbpl6	oxysterol binding protein-like 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308887	Osbpl6	oxysterol binding protein-like 6	gene	DOID:1909	melanoma		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308887	Osbpl6	oxysterol binding protein-like 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308887	Osbpl6	oxysterol binding protein-like 6	gene	DOID:4362	cervical cancer		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308887	Osbpl6	oxysterol binding protein-like 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1318914	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308887	Osbpl6	oxysterol binding protein-like 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318916	D	RGD:8554872	20230815	ClinVar		ClinVar Annotator: match by term: Autism, susceptiblity to	PMID:25741868
1308888	Dhx30	DExH-box helicase 30	gene	DOID:0070756	neurodevelopmental disorder with variable motor and speech impairment		ISO	RGD:1318916	D	RGD:7240710	20190315	OMIM			
1308888	Dhx30	DExH-box helicase 30	gene	DOID:0070756	neurodevelopmental disorder with variable motor and speech impairment		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DHX30-related condition	PMID:25741868
1308888	Dhx30	DExH-box helicase 30	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:10534	stomach cancer		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:1059	intellectual disability		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868|PMID:28327206|PMID:29100085|PMID:32581362
1308888	Dhx30	DExH-box helicase 30	gene	DOID:10907	microcephaly		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28327206|PMID:29100085|PMID:32581362
1308888	Dhx30	DExH-box helicase 30	gene	DOID:10908	hydrocephalus		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868|PMID:28327206|PMID:29100085
1308888	Dhx30	DExH-box helicase 30	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1308888	Dhx30	DExH-box helicase 30	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:11782	astigmatism		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:12849	autistic disorder		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28327206|PMID:29100085|PMID:32581362
1308888	Dhx30	DExH-box helicase 30	gene	DOID:1826	epilepsy		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1308888	Dhx30	DExH-box helicase 30	gene	DOID:1909	melanoma		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:3070	high grade glioma		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:4362	cervical cancer		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:535	sleep disorder		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:28327206|PMID:32581362
1308888	Dhx30	DExH-box helicase 30	gene	DOID:540	strabismus		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:28327206|PMID:32581362
1308888	Dhx30	DExH-box helicase 30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:6039	uveal melanoma		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:630	genetic disease		ISO	RGD:1318916	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:29100085|PMID:34020708
1308888	Dhx30	DExH-box helicase 30	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:8927	learning disability		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:28327206|PMID:29100085
1308888	Dhx30	DExH-box helicase 30	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28327206|PMID:29100085
1308888	Dhx30	DExH-box helicase 30	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318916	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1308888	Dhx30	DExH-box helicase 30	gene	DOID:9003133	Hypertelorism		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1308888	Dhx30	DExH-box helicase 30	gene	DOID:9004507	Hirsutism		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28327206|PMID:29100085
1308888	Dhx30	DExH-box helicase 30	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28327206|PMID:32581362
1308888	Dhx30	DExH-box helicase 30	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28327206|PMID:29100085
1308888	Dhx30	DExH-box helicase 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:9007661	Dwarfism		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28327206|PMID:29100085
1308888	Dhx30	DExH-box helicase 30	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318916	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28327206|PMID:29100085|PMID:32581362
1308888	Dhx30	DExH-box helicase 30	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308888	Dhx30	DExH-box helicase 30	gene	DOID:9834	hyperopia		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1318918	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth type 2	PMID:25741868|PMID:28492532|PMID:31069529|PMID:41765988
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:18700894|PMID:25741868|PMID:28492532|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0060249	scoliosis		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:18700894|PMID:25741868|PMID:28492532|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0061132	autosomal recessive limb-girdle muscular dystrophy type 23		ISO	RGD:1318918	D	RGD:7240710	20190315	OMIM			
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0061132	autosomal recessive limb-girdle muscular dystrophy type 23		ISO	RGD:1318918	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23	PMID:10022829|PMID:10619025|PMID:11591858|PMID:11938437|PMID:12601554|PMID:16199547|PMID:17576681|PMID:17949279|PMID:18700894|PMID:19388593|PMID:20207543|PMID:21520333|PMID:24225367|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26962340|PMID:27124789|PMID:27159402|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:29376585|PMID:30055037|PMID:30301903|PMID:30827497|PMID:31066047|PMID:31309178|PMID:31983221|PMID:32266982|PMID:32444167|PMID:32827036|PMID:32904964|PMID:32936536|PMID:33304817|PMID:33791999|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34777456|PMID:35239206|PMID:35868801|PMID:35902733|PMID:37182895|PMID:37476021|PMID:37526466|PMID:38703036|PMID:38747280|PMID:38975466|PMID:39213089|PMID:8957020|PMID:9536098|PMID:9674786
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0080000	muscular disease		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: muscle disorder	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0080307	myofibrillar myopathy		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy	PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0080600	COVID-19		ISO	RGD:1318918	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0080833	laryngomalacia		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0080918	polymicrogyria		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:18700894|PMID:25741868|PMID:28492532|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:7240710	20130221	OMIM			
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy	PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31066047|PMID:31066050|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:34103343|PMID:34281576|PMID:34528292|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative	PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31069529|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32910545|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:33762593|PMID:34103343|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34925456|PMID:35734998|PMID:35902733|PMID:37526466|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative	PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:25741915|PMID:25741916|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31069529|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32910545|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:33762593|PMID:34103343|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34777456|PMID:34925456|PMID:35734998|PMID:35902733|PMID:36703223|PMID:36860576|PMID:37526466|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative | ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin deficient or partially deficient	PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:29961767|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31069529|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32337335|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32910545|PMID:32936536|PMID:33077954|PMID:33124102|PMID:33219631|PMID:33250842|PMID:33442022|PMID:33762593|PMID:34103343|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34777456|PMID:34925456|PMID:35628876|PMID:35734998|PMID:35902733|PMID:36703223|PMID:36860576|PMID:37526466|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative	PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:29961767|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31069529|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32337335|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32910545|PMID:32936536|PMID:33077954|PMID:33124102|PMID:33219631|PMID:33250842|PMID:33442022|PMID:33762593|PMID:33963534|PMID:34103343|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34702656|PMID:34777456|PMID:34925456|PMID:35628876|PMID:35734998|PMID:35902733|PMID:36703223|PMID:36860576|PMID:37526466|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: LAMA2-related condition | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative	PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:29961767|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31069529|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32337335|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32910545|PMID:32936536|PMID:33057194|PMID:33077954|PMID:33124102|PMID:33219631|PMID:33250842|PMID:33442022|PMID:33762593|PMID:33963534|PMID:34103343|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34602496|PMID:34702656|PMID:34777456|PMID:34925456|PMID:35628876|PMID:35734998|PMID:35885997|PMID:35902733|PMID:35982159|PMID:36380532|PMID:36703223|PMID:36860576|PMID:37038535|PMID:37182895|PMID:37206914|PMID:37526466|PMID:38747280|PMID:38962616|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A | ClinVar Annotator: match by term: LAMA2-related condition | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin deficient or partially deficient	PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:11992261|PMID:12100448|PMID:12552556|PMID:12601554|PMID:15121796|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28569743|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29493581|PMID:29706646|PMID:29707938|PMID:29773157|PMID:29961767|PMID:30055037|PMID:30091983|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31069529|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31404137|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32337335|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32910545|PMID:32936536|PMID:33057194|PMID:33077954|PMID:33124102|PMID:33219631|PMID:33250842|PMID:33304817|PMID:33442022|PMID:33762593|PMID:33963534|PMID:34103343|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34602496|PMID:34702656|PMID:34777456|PMID:34925456|PMID:35628876|PMID:35710456|PMID:35734998|PMID:35885997|PMID:35902733|PMID:35982159|PMID:36380532|PMID:36413997|PMID:36703223|PMID:36860576|PMID:37038535|PMID:37182895|PMID:37206914|PMID:37404563|PMID:37415604|PMID:37526466|PMID:38703036|PMID:38747280|PMID:38962616|PMID:38975466|PMID:39213089|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:1318918	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A | ClinVar Annotator: match by term: LAMA2-related condition | ClinVar Annotator: match by term: LAMA2-related disorder | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, congenital merosin-deficient	PMID:10022829|PMID:10611118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:11287370|PMID:11591858|PMID:11938437|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19388593|PMID:20207543|PMID:20981092|PMID:21228398|PMID:21520333|PMID:21922472|PMID:21953594|PMID:22675738|PMID:22995991|PMID:23326386|PMID:23911319|PMID:24033266|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:25124546|PMID:25214167|PMID:25525159|PMID:25741868|PMID:26304763|PMID:26467025|PMID:26962340|PMID:27124789|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27447704|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27884173|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28688748|PMID:28877744|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29487616|PMID:30055037|PMID:30147969|PMID:30301903|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32904964|PMID:32936536|PMID:33219631|PMID:33791999|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34702656|PMID:34777456|PMID:35902733|PMID:35924034|PMID:36373293|PMID:36860576|PMID:37182895|PMID:37526466|PMID:38747280|PMID:38984033|PMID:39213089|PMID:39941024|PMID:7550355|PMID:8957020|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISS	RGD:1318919	D	RGD:13592920	20230718	MouseDO		OMIM:607855	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A	treatment	ISO	RGD:1318919	D	RGD:13605609|PMID:28714989	20180608	RGD			
1308889	Lama2	laminin subunit alpha 2	gene	DOID:0111338	isolated elevated serum creatine phosphokinase levels		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC	PMID:18700894|PMID:25741868|PMID:28445022|PMID:28492532|PMID:30055037|PMID:32904964|PMID:9674786
1308889	Lama2	laminin subunit alpha 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318918	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:12552556|PMID:20981092|PMID:21228398|PMID:22995991|PMID:24225367|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532|PMID:35924034
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1059	intellectual disability		ISO	RGD:1318918	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:24082139|PMID:24611677|PMID:25741868|PMID:26467025|PMID:27896284|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1059	intellectual disability		ISO	RGD:1318918	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:24082139|PMID:24611677|PMID:25741868|PMID:26467025|PMID:27896284|PMID:28492532|PMID:31066047|PMID:31395899|PMID:33442022|PMID:34281576|PMID:36703223
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1059	intellectual disability		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:18700894|PMID:20207543|PMID:24082139|PMID:24611677|PMID:25741868|PMID:27896284|PMID:28182637|PMID:28492532|PMID:31066047|PMID:31395899|PMID:32904964|PMID:33442022|PMID:34281576
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1059	intellectual disability		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:18700894|PMID:20207543|PMID:24611677|PMID:25741868|PMID:28182637|PMID:28492532|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1318918	D	RGD:8554872	20160112	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25648254
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318918	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
1308889	Lama2	laminin subunit alpha 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1115	sarcoma		ISO	RGD:1318918	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:12552556|PMID:20981092|PMID:21228398|PMID:22995991|PMID:24225367|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532|PMID:35924034
1308889	Lama2	laminin subunit alpha 2	gene	DOID:11720	distal myopathy		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal myopathy	PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:25741868|PMID:27854218|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:11830	myopia		ISO	RGD:1318918	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23396134
1308889	Lama2	laminin subunit alpha 2	gene	DOID:11830	myopia		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:11830	myopia	susceptibility	ISO	RGD:1318918	D	RGD:13605610|PMID:27611182	20180608	RGD		DNA:SNP: :rs12205363(human)	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:11836	clubfoot		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:18700894|PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1247	blood coagulation disease		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:18700894|PMID:25741868|PMID:28492532|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1272	telangiectasis		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telangiectasia	PMID:16199547|PMID:18700894|PMID:25741868|PMID:28492532|PMID:32444167|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:12849	autistic disorder		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:18700894|PMID:20207543|PMID:24611677|PMID:25741868|PMID:28182637|PMID:28492532|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318918	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:26467025|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1324	lung cancer		ISO	RGD:1318918	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:12552556|PMID:20981092|PMID:21228398|PMID:22995991|PMID:24225367|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532|PMID:35924034
1308889	Lama2	laminin subunit alpha 2	gene	DOID:13366	Stiff-Person syndrome		ISO	RGD:1318918	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Stiff-person syndrome, congenital	PMID:24225367|PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1459	hypothyroidism		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1591	renovascular hypertension		IEP		D	RGD:1600206|PMID:10773239	20070302	RGD		mRNA:decreased expression:heart	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:18700894|PMID:25741868|PMID:28445022|PMID:28492532|PMID:30055037|PMID:32904964|PMID:9674786
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1826	epilepsy		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18700894|PMID:20207543|PMID:24611677|PMID:25741868|PMID:28182637|PMID:28492532|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1909	melanoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:18700894|PMID:20207543|PMID:24611677|PMID:25741868|PMID:28182637|PMID:28492532|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:2841	asthma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:3275	thymoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:423	myopathy		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:12601554|PMID:18700894|PMID:20207543|PMID:21520333|PMID:24611677|PMID:25741868|PMID:26962340|PMID:27932089|PMID:28492532|PMID:29376585|PMID:32827036|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318918	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:12552556|PMID:20981092|PMID:21228398|PMID:22995991|PMID:24225367|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532|PMID:35924034
1308889	Lama2	laminin subunit alpha 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318918	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:5419	schizophrenia		ISO	RGD:1318918	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266|PMID:23042115
1308889	Lama2	laminin subunit alpha 2	gene	DOID:543	dystonia		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16199547|PMID:18700894|PMID:25741868|PMID:28492532|PMID:32444167|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17949279|PMID:19388593|PMID:20207543|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30055037
1308889	Lama2	laminin subunit alpha 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318918	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:12552556|PMID:20981092|PMID:21228398|PMID:22995991|PMID:24225367|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532|PMID:35924034
1308889	Lama2	laminin subunit alpha 2	gene	DOID:630	genetic disease		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10611118|PMID:11938437|PMID:12552556|PMID:12601554|PMID:16199547|PMID:17949279|PMID:18414213|PMID:18700894|PMID:20207543|PMID:21520333|PMID:21953594|PMID:24223650|PMID:24611677|PMID:25741868|PMID:26304763|PMID:26467025|PMID:26962340|PMID:28492532|PMID:29376585|PMID:30055037|PMID:32266982|PMID:32827036|PMID:32904964|PMID:34528292|PMID:35902733|PMID:9541105
1308889	Lama2	laminin subunit alpha 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:7319	axonal neuropathy		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:25741868
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9000495	Tremor		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9001722	Dysarthria		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9003760	Myalgia		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:18700894|PMID:25741868|PMID:28445022|PMID:28492532|PMID:30055037|PMID:32904964|PMID:9674786
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:18700894|PMID:25741868|PMID:28492532|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9004547	Thyroid Neoplasms		IEP		D	RGD:1600207|PMID:10335943	20070302	RGD			
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9004866	Ataxia		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination | ClinVar Annotator: match by term: Sensory ataxia	PMID:16199547|PMID:18700894|PMID:25741868|PMID:28492532|PMID:32444167|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318918	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:12552556|PMID:20981092|PMID:21228398|PMID:22995991|PMID:24225367|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532|PMID:35924034
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:12601554|PMID:18700894|PMID:20207543|PMID:21520333|PMID:24611677|PMID:25741868|PMID:26104111|PMID:26962340|PMID:28492532|PMID:29376585|PMID:32827036|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:18700894|PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9006743	Spasm		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9007352	Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency		ISO	RGD:1318918	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY | ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to partial LAMA2 deficiency	PMID:10852549|PMID:12552556|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18700894|PMID:20207543|PMID:20981092|PMID:21228398|PMID:21953594|PMID:22426012|PMID:22995991|PMID:24225367|PMID:25587058|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27854218|PMID:27884173|PMID:28182637|PMID:28492532|PMID:28688748|PMID:29706646|PMID:30055037|PMID:30301903|PMID:32154989|PMID:32904964|PMID:34528292|PMID:35902733|PMID:35924034|PMID:9536098|PMID:9674786
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:16199547|PMID:18700894|PMID:25741868|PMID:28492532|PMID:32444167|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9008993	Myotonia		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myotonia	PMID:18700894|PMID:27932089|PMID:28492532|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:936	brain disease		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9649	congenital nystagmus		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:25741868|PMID:28492532
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:16199547|PMID:18700894|PMID:25741868|PMID:28492532|PMID:32444167|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9884	muscular dystrophy		ISO	RGD:1318918	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18074402|PMID:22906800
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9884	muscular dystrophy		ISO	RGD:1318918	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:12601554|PMID:18700894|PMID:20207543|PMID:21520333|PMID:24611677|PMID:25741868|PMID:26962340|PMID:28492532|PMID:29376585|PMID:32827036|PMID:32904964
1308889	Lama2	laminin subunit alpha 2	gene	DOID:9884	muscular dystrophy	susceptibility	ISO	RGD:1318918	D	RGD:1600200|PMID:7550355	20070302	RGD		DNA:splice-site mutation, nonsense mutation	
1308891	Ephx4	epoxide hydrolase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308891	Ephx4	epoxide hydrolase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308891	Ephx4	epoxide hydrolase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308891	Ephx4	epoxide hydrolase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308891	Ephx4	epoxide hydrolase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308891	Ephx4	epoxide hydrolase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1318922	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:0050983	spinocerebellar ataxia 36		ISO	RGD:1318922	D	RGD:7240710	20140903	OMIM			
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:0050983	spinocerebellar ataxia 36		ISO	RGD:1318922	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia type 36	PMID:25741868
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1318922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:1115	sarcoma		ISO	RGD:1318922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:1324	lung cancer		ISO	RGD:1318922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:1909	melanoma		ISO	RGD:1318922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:3070	high grade glioma		ISO	RGD:1318922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:3275	thymoma		ISO	RGD:1318922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318922	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:4362	cervical cancer		ISO	RGD:1318922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:630	genetic disease		ISO	RGD:1318922	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1318922	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:9000918	Disease Progression		ISO	RGD:1318922	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1318922	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1318922	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308892	Nop56	NOP56 ribonucleoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308893	Dcun1d3	defective in cullin neddylation 1 domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308893	Dcun1d3	defective in cullin neddylation 1 domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1602987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308893	Dcun1d3	defective in cullin neddylation 1 domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308893	Dcun1d3	defective in cullin neddylation 1 domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308893	Dcun1d3	defective in cullin neddylation 1 domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308894	Ube2e3	ubiquitin-conjugating enzyme E2E 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308894	Ube2e3	ubiquitin-conjugating enzyme E2E 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318925	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308894	Ube2e3	ubiquitin-conjugating enzyme E2E 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308894	Ube2e3	ubiquitin-conjugating enzyme E2E 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1318927	D	RGD:11554173	20170822	CTD		CTD Direct Evidence: marker/mechanism	
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1318927	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:25741868|PMID:26467025|PMID:28492532
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:0050588	muscular dystrophy-dystroglycanopathy type B1		ISS	RGD:1318928	D	RGD:13592920	20220602	MouseDO		OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094	
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:0110637	muscular dystrophy-dystroglycanopathy type B6		ISO	RGD:1318927	D	RGD:1358756|PMID:12966029	19990101	RGD			
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:0110637	muscular dystrophy-dystroglycanopathy type B6		ISO	RGD:1318927	D	RGD:7240710	20130425	OMIM			
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:0110637	muscular dystrophy-dystroglycanopathy type B6		ISO	RGD:1318927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6	PMID:12966029|PMID:15661757|PMID:16199547|PMID:17436019|PMID:17576681|PMID:17878207|PMID:18414213|PMID:21727005|PMID:22426012|PMID:24709677|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27159402|PMID:28492532|PMID:29970176|PMID:38229655|PMID:9536098
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:0110637	muscular dystrophy-dystroglycanopathy type B6		ISS	RGD:1318928	D	RGD:13592920	20230718	MouseDO		OMIM:608840	
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6		ISO	RGD:1318927	D	RGD:7240710	20170802	OMIM			
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6		ISO	RGD:1318927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED	PMID:12966029|PMID:17878207|PMID:18414213|PMID:22426012|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176|PMID:38229655
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1318927	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:11727	facioscapulohumeral muscular dystrophy		ISS	RGD:1318928	D	RGD:13592920	20180518	MouseDO		OMIM:158900 | OMIM:158901	
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1318927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28492532
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1318927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:670	amphetamine abuse		ISO	RGD:1318927	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:9004657	Weight Gain		ISO	RGD:1318927	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1318927	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:9884	muscular dystrophy		ISO	RGD:1318927	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868|PMID:28492532
1308895	Large1	LARGE xylosyl- and glucuronyltransferase 1	gene	DOID:9884	muscular dystrophy		ISO	RGD:1318928	D	RGD:1358757|PMID:11381262	19990101	RGD			
1308896	Dbx1	developing brain homeobox 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308896	Dbx1	developing brain homeobox 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1605302	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
1308896	Dbx1	developing brain homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308898	Slc26a8	solute carrier family 26 member 8	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1347727	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308898	Slc26a8	solute carrier family 26 member 8	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1347727	D	RGD:7240710	20130731	OMIM			
1308898	Slc26a8	solute carrier family 26 member 8	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1347727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SLC26A8-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 3 | ClinVar Annotator: match by term: Spermatogenic failure 3	PMID:25741868|PMID:28492532
1308898	Slc26a8	solute carrier family 26 member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1347727	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308898	Slc26a8	solute carrier family 26 member 8	gene	DOID:1115	sarcoma		ISO	RGD:1347727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308898	Slc26a8	solute carrier family 26 member 8	gene	DOID:1324	lung cancer		ISO	RGD:1347727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308898	Slc26a8	solute carrier family 26 member 8	gene	DOID:4362	cervical cancer		ISO	RGD:1347727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308898	Slc26a8	solute carrier family 26 member 8	gene	DOID:5419	schizophrenia		ISO	RGD:1347727	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1308898	Slc26a8	solute carrier family 26 member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308898	Slc26a8	solute carrier family 26 member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308898	Slc26a8	solute carrier family 26 member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308898	Slc26a8	solute carrier family 26 member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308898	Slc26a8	solute carrier family 26 member 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1347727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308899	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif, 14	gene	DOID:0050784	primary progressive multiple sclerosis		ISO	RGD:1318933	D	RGD:6771190|PMID:15913795	20120717	RGD		DNA:SNPs:intron: A>G, C>G (human)	
1308899	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif, 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308899	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif, 14	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1318933	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
1308899	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif, 14	gene	DOID:10534	stomach cancer		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308899	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif, 14	gene	DOID:1115	sarcoma		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308899	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif, 14	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:1318933	D	RGD:6771190|PMID:15913795	20120717	RGD		DNA:SNP:intron: C>T (human)	
1308899	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif, 14	gene	DOID:3275	thymoma		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308899	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif, 14	gene	DOID:4362	cervical cancer		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308899	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif, 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308899	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif, 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308899	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif, 14	gene	DOID:8398	osteoarthritis		ISO	RGD:1318933	D	RGD:6771189|PMID:18790654	20120717	RGD		DNA:missense mutation:cds: (rs4747096) (human)	
1308899	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif, 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308899	Adamts14	ADAM metallopeptidase with thrombospondin type 1 motif, 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308900	Alg5	ALG5, dolichyl-phosphate beta-glucosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308900	Alg5	ALG5, dolichyl-phosphate beta-glucosyltransferase	gene	DOID:0060952	polycystic kidney disease 7		ISO	RGD:1318934	D	RGD:7240710	20221012	OMIM			
1308900	Alg5	ALG5, dolichyl-phosphate beta-glucosyltransferase	gene	DOID:0060952	polycystic kidney disease 7		ISO	RGD:1318934	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALG5-related disorder | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 7 | ClinVar Annotator: match by term: Polycystic kidney disease 7	PMID:25741868|PMID:35896117|PMID:39081747
1308900	Alg5	ALG5, dolichyl-phosphate beta-glucosyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1318934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308900	Alg5	ALG5, dolichyl-phosphate beta-glucosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1318934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308900	Alg5	ALG5, dolichyl-phosphate beta-glucosyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308900	Alg5	ALG5, dolichyl-phosphate beta-glucosyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308900	Alg5	ALG5, dolichyl-phosphate beta-glucosyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308900	Alg5	ALG5, dolichyl-phosphate beta-glucosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308900	Alg5	ALG5, dolichyl-phosphate beta-glucosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308901	Lin37	lin-37 DREAM MuvB core complex component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308901	Lin37	lin-37 DREAM MuvB core complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308901	Lin37	lin-37 DREAM MuvB core complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308901	Lin37	lin-37 DREAM MuvB core complex component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308901	Lin37	lin-37 DREAM MuvB core complex component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308901	Lin37	lin-37 DREAM MuvB core complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:0060058	lymphoma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:1324	lung cancer		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:3070	high grade glioma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:3275	thymoma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:9005643	Experimental Diabetes Mellitus		IMP		D	RGD:9685169|PMID:23595987	20141219	RGD			
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:9352	type 2 diabetes mellitus		IMP		D	RGD:9685169|PMID:23595987	20141219	RGD			
1308903	Crtc2	CREB regulated transcription coactivator 2	gene	DOID:9352	type 2 diabetes mellitus	treatment	IMP		D	RGD:9685172|PMID:19706791	20141219	RGD			
1308904	Fam110a	family with sequence similarity 110, member A	gene	DOID:10534	stomach cancer		ISO	RGD:1318939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308904	Fam110a	family with sequence similarity 110, member A	gene	DOID:1324	lung cancer		ISO	RGD:1318939	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308904	Fam110a	family with sequence similarity 110, member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1318939	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:0060237	Warburg micro syndrome		ISO	RGD:1318941	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:0110718	Warburg micro syndrome 3		ISO	RGD:1318941	D	RGD:7240710	20140903	OMIM			
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:0110718	Warburg micro syndrome 3		ISO	RGD:1318941	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RAB18-related condition | ClinVar Annotator: match by term: WARBURG MICRO SYNDROME 3 | ClinVar Annotator: match by term: Warburg micro syndrome 3	PMID:21473985|PMID:23420520|PMID:25741868|PMID:28492532
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:0110718	Warburg micro syndrome 3		ISS	RGD:1318942	D	RGD:13592920	20230718	MouseDO		OMIM:614222	
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:543	dystonia		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia	PMID:25741868
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308905	Rab18	RAB18, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318944	D	RGD:10402865|PMID:22976834	20151103	RGD			
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:0070000	3-methylglutaconic aciduria type 8		ISO	RGD:1318943	D	RGD:7240710	20190315	OMIM			
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:0070000	3-methylglutaconic aciduria type 8		ISO	RGD:1318943	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIII | ClinVar Annotator: match by term: HTRA2-related condition	PMID:15961413|PMID:18364387|PMID:18401856|PMID:25741868|PMID:28492532
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1318943	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26558463
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:10283	prostate cancer		ISO	RGD:1318943	D	RGD:5688749|PMID:17207090	20120305	RGD		mRNA, protein:increased expression:prostate (human)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318943	D	RGD:5688748|PMID:12887511	20120305	RGD		protein:increased expression:gastric mucosa (human)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1318943	D	RGD:5688722|PMID:21163861	20120302	RGD		protein:increased activity:frontal cortex (human)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:11088	asphyxia neonatorum	treatment	IEP		D	RGD:10402931|PMID:20704803	20151103	RGD		protein:increased expression:kidney:	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:1115	sarcoma		ISO	RGD:1318943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:11383	cryptorchidism		IEP		D	RGD:10402928|PMID:16563141	20151103	RGD			
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:12858	Huntington's disease		ISO	RGD:1318944	D	RGD:5688723|PMID:18662332	20120302	RGD		protein:increased expression:striatal neuron (mouse)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:1380	endometrial cancer		ISO	RGD:1318943	D	RGD:5688747|PMID:19424634	20120305	RGD		protein:decreased expression:endometrium (human)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318943	D	RGD:5688381|PMID:15961413	20120229	RGD		DNA:missense mutations:cds:p.A141S, p.G399S (human)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318943	D	RGD:5688393|PMID:18401856	20120301	RGD		DNA:missense mutation:cds:p.R404W (human)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318943	D	RGD:5688395|PMID:21701785	20120301	RGD		DNA:missense mutation:cds:p.P143A (human)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318943	D	RGD:5688714|PMID:21338583	20120301	RGD		DNA:missense mutation, transversion:cds, intron:p.G26E, g.IVS5+29T>A (human)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318944	D	RGD:5688367|PMID:15509788	20120229	RGD			
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318944	D	RGD:5688392|PMID:14534547	20120301	RGD		DNA:missense mutation:cds:p.S276C (mouse)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:1318943	D	RGD:5688394|PMID:18364387	20120301	RGD		DNA:missense mutations:cds:p.A141S, p.G399S (human)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:1824	status epilepticus		IEP		D	RGD:5688370|PMID:21132459	20120229	RGD		protein:increased expression:hippocampus CA1, neuron, cytoplasm (rat)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:1909	melanoma		ISO	RGD:1318943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1318943	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15306124
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:224	transient cerebral ischemia	treatment	IMP		D	RGD:10402932|PMID:19462455	20151103	RGD			
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:231	motor neuron disease		ISO	RGD:1318944	D	RGD:10402865|PMID:22976834	20151103	RGD			
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:231	motor neuron disease	treatment	ISO	RGD:1318943	D	RGD:10402865|PMID:22976834	20151103	RGD			
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1318943	D	RGD:5688746|PMID:18241672	20120305	RGD		mRNA:decreased expression:ovary (human)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:3525	middle cerebral artery infarction		IEP		D	RGD:2314385|PMID:16978742	20120229	RGD		protein:increased expression:brain, cytosol (rat)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1318944	D	RGD:5688372|PMID:15306124	20120229	RGD		protein:increased expression:brain, cytosol (mouse)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:3652	Leigh disease		ISO	RGD:1318943	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318943	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:630	genetic disease		ISO	RGD:1318943	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:9002644	Premature Aging		ISO	RGD:1318944	D	RGD:10402865|PMID:22976834	20151103	RGD			
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:9002720	Splenomegaly		ISO	RGD:1318944	D	RGD:10402865|PMID:22976834	20151103	RGD			
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:9002859	Parkinson's Disease 13		ISO	RGD:1318943	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:9002859	Parkinson's Disease 13		ISO	RGD:1318943	D	RGD:7240710	20160629	OMIM			
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:9002859	Parkinson's Disease 13		ISO	RGD:1318943	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HTRA2-Related Disorders | ClinVar Annotator: match by term: HTRA2-related condition | ClinVar Annotator: match by term: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to	PMID:15961413|PMID:18364387|PMID:18401856|PMID:21338583|PMID:25531304|PMID:25741868|PMID:27208207|PMID:27696117|PMID:28492532
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:9004484	Sepsis	treatment	IMP		D	RGD:10402934|PMID:23557966	20151103	RGD			
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:9007456	Female Infertility		ISO	RGD:1318944	D	RGD:10402865|PMID:22976834	20151103	RGD			
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1318944	D	RGD:5688376|PMID:15611365	20120229	RGD		protein:increased expression:myocardium, cytosol (mouse)	
1308906	Htra2	HtrA serine peptidase 2	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1318943	D	RGD:152977762|PMID:32486357	20220606	RGD		protein:decreased expression:colorectal mucosa (human)	
1308907	Gpatch2l	G patch domain containing 2-like	gene	DOID:1324	lung cancer		ISO	RGD:1318945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308907	Gpatch2l	G patch domain containing 2-like	gene	DOID:4362	cervical cancer		ISO	RGD:1318945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308907	Gpatch2l	G patch domain containing 2-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308907	Gpatch2l	G patch domain containing 2-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308907	Gpatch2l	G patch domain containing 2-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308907	Gpatch2l	G patch domain containing 2-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308908	Ints1	integrator complex subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:0050581	brachydactyly		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
1308908	Ints1	integrator complex subunit 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
1308908	Ints1	integrator complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1308908	Ints1	integrator complex subunit 1	gene	DOID:0060058	lymphoma		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:0070346	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies		ISO	RGD:1606801	D	RGD:7240710	20191016	OMIM			
1308908	Ints1	integrator complex subunit 1	gene	DOID:0070346	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies		ISO	RGD:1606801	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTS1-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	PMID:16199547|PMID:25741868|PMID:28492532|PMID:28542170|PMID:30622326|PMID:31428919|PMID:38177409
1308908	Ints1	integrator complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308908	Ints1	integrator complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1308908	Ints1	integrator complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308908	Ints1	integrator complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
1308908	Ints1	integrator complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1308908	Ints1	integrator complex subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1308908	Ints1	integrator complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome	
1308908	Ints1	integrator complex subunit 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1308908	Ints1	integrator complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:2355	anemia		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	
1308908	Ints1	integrator complex subunit 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308908	Ints1	integrator complex subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308908	Ints1	integrator complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308908	Ints1	integrator complex subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606801	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308908	Ints1	integrator complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1606801	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308908	Ints1	integrator complex subunit 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1308908	Ints1	integrator complex subunit 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	
1308908	Ints1	integrator complex subunit 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308908	Ints1	integrator complex subunit 1	gene	DOID:9004108	Fused Kidney		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	
1308908	Ints1	integrator complex subunit 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1308908	Ints1	integrator complex subunit 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308908	Ints1	integrator complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308908	Ints1	integrator complex subunit 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1308908	Ints1	integrator complex subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1308908	Ints1	integrator complex subunit 1	gene	DOID:9008421	Epistaxis		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis	
1308908	Ints1	integrator complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308908	Ints1	integrator complex subunit 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1308908	Ints1	integrator complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308908	Ints1	integrator complex subunit 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308910	Hint2	histidine triad nucleotide binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308910	Hint2	histidine triad nucleotide binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308911	Meox1	mesenchyme homeobox 1	gene	DOID:0080590	Klippel-Feil syndrome 2		ISO	RGD:1318950	D	RGD:7240710	20130425	OMIM			
1308911	Meox1	mesenchyme homeobox 1	gene	DOID:0080590	Klippel-Feil syndrome 2		ISO	RGD:1318950	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KLIPPEL-FEIL SYNDROME 2 | ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive | ClinVar Annotator: match by term: MEOX1-related condition	PMID:25741868|PMID:28492532
1308911	Meox1	mesenchyme homeobox 1	gene	DOID:10426	Klippel-Feil syndrome		ISO	RGD:1318950	D	RGD:11554173	20190326	CTD		CTD Direct Evidence: marker/mechanism	
1308911	Meox1	mesenchyme homeobox 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1318950	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
1308911	Meox1	mesenchyme homeobox 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1318950	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: therapeutic	PMID:34837450
1308911	Meox1	mesenchyme homeobox 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318950	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: therapeutic	PMID:34837450
1308911	Meox1	mesenchyme homeobox 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308911	Meox1	mesenchyme homeobox 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318950	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308911	Meox1	mesenchyme homeobox 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318950	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3	PMID:38922859
1308911	Meox1	mesenchyme homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308911	Meox1	mesenchyme homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1318950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308913	Zfp36l2	zinc finger protein 36, C3H type-like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1318953	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:memory B cells (human)	PMID:32377375|REF_RGD_ID:32716422
1308913	Zfp36l2	zinc finger protein 36, C3H type-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308913	Zfp36l2	zinc finger protein 36, C3H type-like 2	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1318953	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:28671688
1308913	Zfp36l2	zinc finger protein 36, C3H type-like 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318953	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
1308913	Zfp36l2	zinc finger protein 36, C3H type-like 2	gene	DOID:9004592	Oocyte/Zygote/Embryo Maturation Arrest 13		ISO	RGD:1318953	D	RGD:7240710	20221214	OMIM			
1308913	Zfp36l2	zinc finger protein 36, C3H type-like 2	gene	DOID:9004592	Oocyte/Zygote/Embryo Maturation Arrest 13		ISO	RGD:1318953	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13	PMID:25741868|PMID:34611029
1308913	Zfp36l2	zinc finger protein 36, C3H type-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308913	Zfp36l2	zinc finger protein 36, C3H type-like 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318953	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
1308914	Sema5b	semaphorin 5B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308914	Sema5b	semaphorin 5B	gene	DOID:1324	lung cancer		ISO	RGD:1318955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308914	Sema5b	semaphorin 5B	gene	DOID:1909	melanoma		ISO	RGD:1318955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308914	Sema5b	semaphorin 5B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308914	Sema5b	semaphorin 5B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308914	Sema5b	semaphorin 5B	gene	DOID:5041	esophageal cancer		ISO	RGD:1318955	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308914	Sema5b	semaphorin 5B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308914	Sema5b	semaphorin 5B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308914	Sema5b	semaphorin 5B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308914	Sema5b	semaphorin 5B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308914	Sema5b	semaphorin 5B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308915	Naa60	N(alpha)-acetyltransferase 60, NatF catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308915	Naa60	N(alpha)-acetyltransferase 60, NatF catalytic subunit	gene	DOID:1115	sarcoma		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308915	Naa60	N(alpha)-acetyltransferase 60, NatF catalytic subunit	gene	DOID:1324	lung cancer		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308915	Naa60	N(alpha)-acetyltransferase 60, NatF catalytic subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308915	Naa60	N(alpha)-acetyltransferase 60, NatF catalytic subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308915	Naa60	N(alpha)-acetyltransferase 60, NatF catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308915	Naa60	N(alpha)-acetyltransferase 60, NatF catalytic subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308915	Naa60	N(alpha)-acetyltransferase 60, NatF catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308915	Naa60	N(alpha)-acetyltransferase 60, NatF catalytic subunit	gene	DOID:9007546	Idiopathic Basal Ganglia Calcification 1		ISO	RGD:1605347	D	RGD:11554173	20251007	CTD		CTD Direct Evidence: marker/mechanism	
1308915	Naa60	N(alpha)-acetyltransferase 60, NatF catalytic subunit	gene	DOID:9008685	Idiopathic Basal Ganglia Calcification 9		ISO	RGD:1605347	D	RGD:7240710	20240515	OMIM			
1308915	Naa60	N(alpha)-acetyltransferase 60, NatF catalytic subunit	gene	DOID:9008685	Idiopathic Basal Ganglia Calcification 9		ISO	RGD:1605347	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE	
1308916	Csrnp2	cysteine and serine rich nuclear protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318958	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308916	Csrnp2	cysteine and serine rich nuclear protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308916	Csrnp2	cysteine and serine rich nuclear protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308916	Csrnp2	cysteine and serine rich nuclear protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308916	Csrnp2	cysteine and serine rich nuclear protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308917	Jkamp	JNK1/MAPK8-associated membrane protein	gene	DOID:0051071	neurodevelopmental disorder with seizures and impaired intellectual and language development		ISO	RGD:1318960	D	RGD:7240710	20260408	OMIM			
1308918	Abraxas2	abraxas 2, BRISC complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308918	Abraxas2	abraxas 2, BRISC complex subunit	gene	DOID:1909	melanoma		ISO	RGD:1318962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308918	Abraxas2	abraxas 2, BRISC complex subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1318962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308918	Abraxas2	abraxas 2, BRISC complex subunit	gene	DOID:3275	thymoma		ISO	RGD:1318962	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308918	Abraxas2	abraxas 2, BRISC complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308918	Abraxas2	abraxas 2, BRISC complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308919	Lrrc42	leucine rich repeat containing 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308919	Lrrc42	leucine rich repeat containing 42	gene	DOID:10534	stomach cancer		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308919	Lrrc42	leucine rich repeat containing 42	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308919	Lrrc42	leucine rich repeat containing 42	gene	DOID:1115	sarcoma		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308919	Lrrc42	leucine rich repeat containing 42	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308919	Lrrc42	leucine rich repeat containing 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308919	Lrrc42	leucine rich repeat containing 42	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308919	Lrrc42	leucine rich repeat containing 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308919	Lrrc42	leucine rich repeat containing 42	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318965	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:25475535
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:2394	ovarian cancer		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1318965	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308920	Col19a1	collagen type XIX alpha 1 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308922	Gprin2	G protein regulated inducer of neurite outgrowth 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308922	Gprin2	G protein regulated inducer of neurite outgrowth 2	gene	DOID:1324	lung cancer		ISO	RGD:1318969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308922	Gprin2	G protein regulated inducer of neurite outgrowth 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318969	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308922	Gprin2	G protein regulated inducer of neurite outgrowth 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308922	Gprin2	G protein regulated inducer of neurite outgrowth 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308923	Faap20	FA core complex associated protein 20	gene	DOID:10534	stomach cancer		ISO	RGD:1604208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308923	Faap20	FA core complex associated protein 20	gene	DOID:1115	sarcoma		ISO	RGD:1604208	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308923	Faap20	FA core complex associated protein 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308923	Faap20	FA core complex associated protein 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308923	Faap20	FA core complex associated protein 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308924	Tax1bp3	Tax1 binding protein 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308925	Brd3	bromodomain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308925	Brd3	bromodomain containing 3	gene	DOID:0050902	medulloblastoma		ISO	RGD:1318974	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24231268
1308925	Brd3	bromodomain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308925	Brd3	bromodomain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308925	Brd3	bromodomain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308925	Brd3	bromodomain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308925	Brd3	bromodomain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308925	Brd3	bromodomain containing 3	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1318974	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1308925	Brd3	bromodomain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308925	Brd3	bromodomain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308925	Brd3	bromodomain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308925	Brd3	bromodomain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308925	Brd3	bromodomain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308926	Fkbp6	FKBP prolyl isomerase family member 6	gene	DOID:0070576	spermatogenic failure 77		ISO	RGD:1318976	D	RGD:7240710	20221102	OMIM			
1308926	Fkbp6	FKBP prolyl isomerase family member 6	gene	DOID:0070576	spermatogenic failure 77		ISO	RGD:1318976	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 77	PMID:25741868
1308926	Fkbp6	FKBP prolyl isomerase family member 6	gene	DOID:12336	male infertility		IAGP		D	RGD:1582485|PMID:12764197	20061110	RGD		DNA:deletion:exon (rat)	
1308926	Fkbp6	FKBP prolyl isomerase family member 6	gene	DOID:12336	male infertility		ISO	RGD:1318977	D	RGD:1582485|PMID:12764197	20110705	RGD			
1308926	Fkbp6	FKBP prolyl isomerase family member 6	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:1318976	D	RGD:1582483|PMID:9782077	20061110	RGD			
1308926	Fkbp6	FKBP prolyl isomerase family member 6	gene	DOID:630	genetic disease		ISO	RGD:1318976	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:0081420	familial focal epilepsy with variable foci		ISO	RGD:1318978	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial focal epilepsy with variable foci	PMID:25741868
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:0081421	familial focal epilepsy with variable foci 1		ISO	RGD:1318978	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:0081422	familial focal epilepsy with variable foci 2		ISO	RGD:1318978	D	RGD:7240710	20190315	OMIM			
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:0081422	familial focal epilepsy with variable foci 2		ISO	RGD:1318978	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 | ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 | ClinVar Annotator: match by term: NPRL2-related condition	PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:28492532|PMID:30093711|PMID:31639411|PMID:33461085
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1318978	D	RGD:8554872	20210817	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:1826	epilepsy		ISO	RGD:1318978	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:1909	melanoma		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:2394	ovarian cancer		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1318978	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:5419	schizophrenia		ISO	RGD:1318978	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:630	genetic disease		ISO	RGD:1318978	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085
1308927	Nprl2	NPR2-like, GATOR1 complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:10534	stomach cancer		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:1115	sarcoma		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:1324	lung cancer		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:1909	melanoma		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:3275	thymoma		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:4362	cervical cancer		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1318980	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:9003566	Mesothelioma		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1308928	Rbm19	RNA binding motif protein 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308929	Fam168a	family with sequence similarity 168, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308929	Fam168a	family with sequence similarity 168, member A	gene	DOID:1115	sarcoma		ISO	RGD:1604050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308929	Fam168a	family with sequence similarity 168, member A	gene	DOID:3275	thymoma		ISO	RGD:1604050	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308929	Fam168a	family with sequence similarity 168, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308929	Fam168a	family with sequence similarity 168, member A	gene	DOID:6039	uveal melanoma		ISO	RGD:1604050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308929	Fam168a	family with sequence similarity 168, member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308929	Fam168a	family with sequence similarity 168, member A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1604050	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1308929	Fam168a	family with sequence similarity 168, member A	gene	DOID:9000918	Disease Progression		ISO	RGD:1604050	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1308931	Samd7	sterile alpha motif domain containing 7	gene	DOID:4448	macular degeneration		ISO	RGD:1318984	D	RGD:7240710	20240529	OMIM			
1308931	Samd7	sterile alpha motif domain containing 7	gene	DOID:4448	macular degeneration		ISO	RGD:1318984	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION | ClinVar Annotator: match by term: Macular dystrophy with or without cone dysfunction	PMID:25741868
1308931	Samd7	sterile alpha motif domain containing 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308932	Ythdf1	YTH N6-methyladenosine RNA binding protein F1	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1318986	D	RGD:11554173	20251007	CTD		CTD Direct Evidence: marker/mechanism	PMID:37742376
1308932	Ythdf1	YTH N6-methyladenosine RNA binding protein F1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308932	Ythdf1	YTH N6-methyladenosine RNA binding protein F1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1318986	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1308932	Ythdf1	YTH N6-methyladenosine RNA binding protein F1	gene	DOID:1909	melanoma		ISO	RGD:1318986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308932	Ythdf1	YTH N6-methyladenosine RNA binding protein F1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308932	Ythdf1	YTH N6-methyladenosine RNA binding protein F1	gene	DOID:9538	multiple myeloma		ISO	RGD:1318986	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35038059
1308935	Gpatch1	G patch domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318991	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308935	Gpatch1	G patch domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308936	Anapc10	anaphase promoting complex subunit 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308936	Anapc10	anaphase promoting complex subunit 10	gene	DOID:0112178	Mayer-Rokitansky-Kuster-Hauser syndrome type 1		ISO	RGD:1318993	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Mayer Rokitansky Kuster Hauser syndrome type 1	PMID:25741868
1308936	Anapc10	anaphase promoting complex subunit 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1318995	D	RGD:2290417|PMID:15928670	20091209	RGD			
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:1115	sarcoma		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:1324	lung cancer		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1318995	D	RGD:2314950|PMID:9751409	20091209	RGD			
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:3275	thymoma		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:4362	cervical cancer		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318995	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:9002159	Liver Reperfusion Injury		IEP		D	RGD:2314952|PMID:19595018	20091209	RGD		mRNA:increased expression:lung	
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1318995	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1318996	D	RGD:2314949|PMID:15895410	20091209	RGD		mRNA:increased expression:mammary gland	
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308937	Mmp15	matrix metallopeptidase 15	gene	DOID:9008582	Developmental Disease		ISO	RGD:1318995	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1308938	Tnpo3	transportin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308938	Tnpo3	transportin 3	gene	DOID:0110304	autosomal dominant limb-girdle muscular dystrophy type 2		ISO	RGD:1318997	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308938	Tnpo3	transportin 3	gene	DOID:0110304	autosomal dominant limb-girdle muscular dystrophy type 2		ISO	RGD:1318997	D	RGD:7240710	20140723	OMIM			
1308938	Tnpo3	transportin 3	gene	DOID:0110304	autosomal dominant limb-girdle muscular dystrophy type 2		ISO	RGD:1318997	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F	PMID:16199547|PMID:17576681|PMID:23543484|PMID:23667635|PMID:25741868|PMID:28492532|PMID:30567601|PMID:31071488|PMID:31217819|PMID:31674007|PMID:33057194|PMID:9536098
1308938	Tnpo3	transportin 3	gene	DOID:1115	sarcoma		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308938	Tnpo3	transportin 3	gene	DOID:1324	lung cancer		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308938	Tnpo3	transportin 3	gene	DOID:1909	melanoma		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308938	Tnpo3	transportin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308938	Tnpo3	transportin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318997	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308938	Tnpo3	transportin 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308938	Tnpo3	transportin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308938	Tnpo3	transportin 3	gene	DOID:630	genetic disease		ISO	RGD:1318997	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308938	Tnpo3	transportin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308938	Tnpo3	transportin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308939	Tmem60	transmembrane protein 60	gene	DOID:0080600	COVID-19		ISO	RGD:1318999	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1308939	Tmem60	transmembrane protein 60	gene	DOID:1115	sarcoma		ISO	RGD:1318999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308939	Tmem60	transmembrane protein 60	gene	DOID:4362	cervical cancer		ISO	RGD:1318999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308940	Tmod4	tropomodulin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1319001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308940	Tmod4	tropomodulin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308940	Tmod4	tropomodulin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308941	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:0110406	retinitis pigmentosa 30		ISO	RGD:1319003	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308941	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:0110406	retinitis pigmentosa 30		ISO	RGD:1319003	D	RGD:7240710	20130425	OMIM			
1308941	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:0110406	retinitis pigmentosa 30		ISO	RGD:1319003	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FSCN2-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 30 | ClinVar Annotator: match by term: Retinitis pigmentosa 30	PMID:25741868|PMID:28492532
1308941	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:0110406	retinitis pigmentosa 30		ISS	RGD:1319004	D	RGD:13592920	20230718	MouseDO		OMIM:607921	
1308941	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319003	D	RGD:1598962|PMID:11527955	20070108	RGD			
1308941	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:11830	myopia		ISO	RGD:1319003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1308941	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:2742	auditory system disease		ISS	RGD:1319004	D	RGD:13592920	20200206	MouseDO			
1308941	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:5041	esophageal cancer		ISO	RGD:1319003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308941	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:8466	retinal degeneration		ISS	RGD:1319004	D	RGD:13592920	20200206	MouseDO			
1308941	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:28492532|PMID:33946315
1308941	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308941	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:9849	Meniere's disease		ISO	RGD:1319003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease	
1308941	Fscn2	fascin actin-bundling protein 2, retinal	gene	DOID:9970	obesity		ISO	RGD:1319003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1308942	Gjd3	gap junction protein, delta 3	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:7364769|PMID:23385797	20130926	RGD		protein:decreased expression:retina:	
1308943	Vat1	vesicle amine transport 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308943	Vat1	vesicle amine transport 1	gene	DOID:1115	sarcoma		ISO	RGD:1319007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308943	Vat1	vesicle amine transport 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319007	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308943	Vat1	vesicle amine transport 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308943	Vat1	vesicle amine transport 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308944	Bnip2	BCL2 interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308944	Bnip2	BCL2 interacting protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308944	Bnip2	BCL2 interacting protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308944	Bnip2	BCL2 interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319009	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308944	Bnip2	BCL2 interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308944	Bnip2	BCL2 interacting protein 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1308944	Bnip2	BCL2 interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308945	Cab39l	calcium binding protein 39-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308945	Cab39l	calcium binding protein 39-like	gene	DOID:10534	stomach cancer		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308945	Cab39l	calcium binding protein 39-like	gene	DOID:1909	melanoma		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308945	Cab39l	calcium binding protein 39-like	gene	DOID:3275	thymoma		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308945	Cab39l	calcium binding protein 39-like	gene	DOID:4362	cervical cancer		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308945	Cab39l	calcium binding protein 39-like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308945	Cab39l	calcium binding protein 39-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1319011	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308945	Cab39l	calcium binding protein 39-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308945	Cab39l	calcium binding protein 39-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308946	Hm13	histocompatibility minor 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308946	Hm13	histocompatibility minor 13	gene	DOID:10534	stomach cancer		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308946	Hm13	histocompatibility minor 13	gene	DOID:1115	sarcoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308946	Hm13	histocompatibility minor 13	gene	DOID:1909	melanoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308946	Hm13	histocompatibility minor 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308946	Hm13	histocompatibility minor 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308946	Hm13	histocompatibility minor 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308946	Hm13	histocompatibility minor 13	gene	DOID:9002834	Herpesviridae Infections	treatment	ISO	RGD:1319014	D	RGD:40903051|PMID:24768597	20210114	RGD			
1308946	Hm13	histocompatibility minor 13	gene	DOID:9002834	Herpesviridae Infections	treatment	ISO	RGD:1319014	D	RGD:40903053|PMID:31511378	20210114	RGD			
1308946	Hm13	histocompatibility minor 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308946	Hm13	histocompatibility minor 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308946	Hm13	histocompatibility minor 13	gene	DOID:9452	steatotic liver disease		ISO	RGD:1319014	D	RGD:40924634|PMID:27142248	20210114	RGD		associated with hepatitis	
1308947	Rgl1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308947	Rgl1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308947	Rgl1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308947	Rgl1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:1324	lung cancer		ISO	RGD:1319015	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308947	Rgl1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:1909	melanoma		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308947	Rgl1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:3275	thymoma		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308947	Rgl1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308947	Rgl1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308947	Rgl1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319015	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308947	Rgl1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308947	Rgl1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308947	Rgl1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308947	Rgl1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308947	Rgl1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308948	Rrh	retinal pigment epithelium derived rhodopsin homolog	gene	DOID:0060058	lymphoma		ISO	RGD:1319017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1308948	Rrh	retinal pigment epithelium derived rhodopsin homolog	gene	DOID:1115	sarcoma		ISO	RGD:1319017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308948	Rrh	retinal pigment epithelium derived rhodopsin homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1319017	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308948	Rrh	retinal pigment epithelium derived rhodopsin homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:28492532
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:0111507	Lenz-Majewski hyperostotic dwarfism		ISO	RGD:1319019	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24241535
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:0111507	Lenz-Majewski hyperostotic dwarfism		ISO	RGD:1319019	D	RGD:7240710	20141015	OMIM			
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:0111507	Lenz-Majewski hyperostotic dwarfism		ISO	RGD:1319019	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM | ClinVar Annotator: match by term: Lenz-Majewski hyperostosis syndrome | ClinVar Annotator: match by term: PTDSS1-related condition	PMID:17576681|PMID:24241535|PMID:25741868|PMID:28492532|PMID:29341480|PMID:9536098
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:10907	microcephaly		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:29341480
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:29341480
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:1909	melanoma		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:28492532
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:630	genetic disease		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:29341480
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:28492532
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:29341480
1308949	Ptdss1	phosphatidylserine synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308950	Ap3b2	adaptor related protein complex 3 subunit beta 2	gene	DOID:0080448	developmental and epileptic encephalopathy 48		ISO	RGD:1319021	D	RGD:7240710	20190315	OMIM			
1308950	Ap3b2	adaptor related protein complex 3 subunit beta 2	gene	DOID:0080448	developmental and epileptic encephalopathy 48		ISO	RGD:1319021	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: AP3B2-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48	PMID:25741868|PMID:28492532
1308950	Ap3b2	adaptor related protein complex 3 subunit beta 2	gene	DOID:630	genetic disease		ISO	RGD:1319021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308951	Pogk	pogo transposable element derived with KRAB domain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308951	Pogk	pogo transposable element derived with KRAB domain	gene	DOID:1324	lung cancer		ISO	RGD:1319023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308951	Pogk	pogo transposable element derived with KRAB domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308952	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308952	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1353989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308952	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1353989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308952	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1353989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308952	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:1826	epilepsy		ISO	RGD:1353989	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:24463883|PMID:25558065|PMID:28492532
1308952	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308952	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308952	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1353989	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308952	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308952	Rab11fip3	RAB11 family interacting protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:0060450	Lisch epithelial corneal dystrophy		ISO	RGD:1319026	D	RGD:11554173	20240430	CTD		CTD Direct Evidence: marker/mechanism	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:0060450	Lisch epithelial corneal dystrophy		ISO	RGD:1319026	D	RGD:7240710	20240403	OMIM			
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:0060450	Lisch epithelial corneal dystrophy		ISO	RGD:1319026	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BAND-SHAPED AND WHORLED MICROCYSTIC CORNEAL EPITHELIAL DYSTROPHY | ClinVar Annotator: match by term: CORNEAL DYSTROPHY, LISCH EPITHELIAL | ClinVar Annotator: match by term: Lisch epithelial corneal dystrophy	PMID:11030752|PMID:11317355|PMID:12125810|PMID:12182165|PMID:14749347|PMID:15178326|PMID:15336987|PMID:16199547|PMID:16257972|PMID:17239335|PMID:17306511|PMID:18794901|PMID:20159435|PMID:21763169|PMID:22268962|PMID:25119295|PMID:25465891|PMID:25741868|PMID:28112729|PMID:28492532|PMID:28936784|PMID:29019983|PMID:30120981|PMID:33454187|PMID:33741364|PMID:35425852|PMID:37972748
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:0080488	mucolipidosis		ISO	RGD:1319026	D	RGD:11554173	20190226	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864526|PMID:21613607
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:0080490	mucolipidosis type IV		ISO	RGD:1319026	D	RGD:7240710	20190227	OMIM			
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:0080490	mucolipidosis type IV		ISO	RGD:1319026	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Mucolipidosis type IV	PMID:10441585|PMID:10973263|PMID:11013137|PMID:11030752|PMID:11317355|PMID:11551108|PMID:11845410|PMID:12125810|PMID:12182165|PMID:14749347|PMID:15178326|PMID:15523648|PMID:16199547|PMID:16257972|PMID:16287144|PMID:16645217|PMID:16978393|PMID:17239335|PMID:17306511|PMID:17384215|PMID:17576681|PMID:18326692|PMID:18794901|PMID:19815695|PMID:20159435|PMID:21763169|PMID:22268962|PMID:22281206|PMID:23555759|PMID:23685283|PMID:24033266|PMID:25119295|PMID:25465891|PMID:25741868|PMID:25933391|PMID:26467025|PMID:27670435|PMID:28112729|PMID:28492532|PMID:28604674|PMID:28936784|PMID:29019983|PMID:30120981|PMID:31578829|PMID:31618753|PMID:31623504|PMID:31899079|PMID:32214227|PMID:32860008|PMID:33454187|PMID:33963976|PMID:35425852|PMID:36344503|PMID:37972748|PMID:9536098
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:0080490	mucolipidosis type IV		ISO	RGD:1319026	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ML IV | ClinVar Annotator: match by term: MUCOLIPIDOSIS IV | ClinVar Annotator: match by term: Mucolipidosis type IV	PMID:10441585|PMID:10973263|PMID:11013137|PMID:11030752|PMID:11317355|PMID:11551108|PMID:11845410|PMID:12125810|PMID:12182165|PMID:14749347|PMID:15178326|PMID:15336987|PMID:15523648|PMID:16199547|PMID:16257972|PMID:16287144|PMID:16978393|PMID:17239335|PMID:17306511|PMID:17576681|PMID:18326692|PMID:18794901|PMID:19815695|PMID:20159435|PMID:21228398|PMID:21763169|PMID:22268962|PMID:22281206|PMID:23685283|PMID:24332805|PMID:25119295|PMID:25465891|PMID:25741868|PMID:25933391|PMID:27670435|PMID:28112729|PMID:28492532|PMID:28604674|PMID:28936784|PMID:29019983|PMID:30120981|PMID:31578829|PMID:31618753|PMID:31623504|PMID:31899079|PMID:32036093|PMID:32214227|PMID:32404165|PMID:32604955|PMID:32860008|PMID:33454187|PMID:33741364|PMID:33963976|PMID:35159355|PMID:35425852|PMID:36139381|PMID:36344503|PMID:36937954|PMID:37267771|PMID:37597066|PMID:37644014|PMID:37972748|PMID:38532569|PMID:9536098
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:0080490	mucolipidosis type IV		ISS	RGD:1319027	D	RGD:13592920	20230718	MouseDO		OMIM:252650	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:0110810	hereditary spastic paraplegia 5A		ISO	RGD:1319026	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A	PMID:25741868
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:1059	intellectual disability		ISO	RGD:1319026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:1115	sarcoma		ISO	RGD:1319026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1319026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:1324	lung cancer		ISO	RGD:1319026	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1319026	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:25741868|PMID:26467025|PMID:28492532
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1319026	D	RGD:11554173	20241001	CTD		CTD Direct Evidence: therapeutic	PMID:38097005
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:3343	glycoproteinosis		ISO	RGD:1319026	D	RGD:1599926|PMID:10973263	20070221	RGD			
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319026	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319026	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:630	genetic disease		ISO	RGD:1319026	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10973263|PMID:11030752|PMID:11317355|PMID:17239335|PMID:21763169|PMID:25741868|PMID:25933391|PMID:28492532|PMID:31618753|PMID:37972748
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319026	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:11030752|PMID:11317355|PMID:12182165|PMID:25741868|PMID:28492532|PMID:32604955|PMID:37972748
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1319026	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:11030752|PMID:11317355|PMID:12182165|PMID:21763169|PMID:25119295|PMID:25741868|PMID:28492532|PMID:33454187
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319026	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11030752|PMID:11317355|PMID:12182165|PMID:21763169|PMID:25119295|PMID:25741868|PMID:28492532|PMID:33454187
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1319026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal opacity	
1308953	Mcoln1	mucolipin TRP cation channel 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308954	Cobll1	cordon-bleu WH2 repeat protein-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308954	Cobll1	cordon-bleu WH2 repeat protein-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308954	Cobll1	cordon-bleu WH2 repeat protein-like 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1319028	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:35654975
1308954	Cobll1	cordon-bleu WH2 repeat protein-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308954	Cobll1	cordon-bleu WH2 repeat protein-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1319028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308954	Cobll1	cordon-bleu WH2 repeat protein-like 1	gene	DOID:3275	thymoma		ISO	RGD:1319028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308954	Cobll1	cordon-bleu WH2 repeat protein-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308954	Cobll1	cordon-bleu WH2 repeat protein-like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308954	Cobll1	cordon-bleu WH2 repeat protein-like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308954	Cobll1	cordon-bleu WH2 repeat protein-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308954	Cobll1	cordon-bleu WH2 repeat protein-like 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1319029	D	RGD:11561325|PMID:27506785	20250327	RGD		mRNA:increased expressio:nucleus accumbens (mouse)	
1308954	Cobll1	cordon-bleu WH2 repeat protein-like 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1319028	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34355838
1308954	Cobll1	cordon-bleu WH2 repeat protein-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308955	Chid1	chitinase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308955	Chid1	chitinase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308955	Chid1	chitinase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308955	Chid1	chitinase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604307	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308955	Chid1	chitinase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1604307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308955	Chid1	chitinase domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1604307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308955	Chid1	chitinase domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308955	Chid1	chitinase domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308955	Chid1	chitinase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308955	Chid1	chitinase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308955	Chid1	chitinase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308956	Mtf1	metal-regulatory transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308956	Mtf1	metal-regulatory transcription factor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319031	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1308956	Mtf1	metal-regulatory transcription factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308956	Mtf1	metal-regulatory transcription factor 1	gene	DOID:12849	autistic disorder		ISO	RGD:1319031	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15446388
1308956	Mtf1	metal-regulatory transcription factor 1	gene	DOID:1909	melanoma		ISO	RGD:1319031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308956	Mtf1	metal-regulatory transcription factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308956	Mtf1	metal-regulatory transcription factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319031	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308956	Mtf1	metal-regulatory transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308956	Mtf1	metal-regulatory transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308956	Mtf1	metal-regulatory transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308956	Mtf1	metal-regulatory transcription factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308958	Tmem245	transmembrane protein 245	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308958	Tmem245	transmembrane protein 245	gene	DOID:10534	stomach cancer		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308958	Tmem245	transmembrane protein 245	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308958	Tmem245	transmembrane protein 245	gene	DOID:1324	lung cancer		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308958	Tmem245	transmembrane protein 245	gene	DOID:1909	melanoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308958	Tmem245	transmembrane protein 245	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308958	Tmem245	transmembrane protein 245	gene	DOID:3275	thymoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308958	Tmem245	transmembrane protein 245	gene	DOID:4362	cervical cancer		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308958	Tmem245	transmembrane protein 245	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308958	Tmem245	transmembrane protein 245	gene	DOID:5041	esophageal cancer		ISO	RGD:1319034	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308958	Tmem245	transmembrane protein 245	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308958	Tmem245	transmembrane protein 245	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308958	Tmem245	transmembrane protein 245	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308958	Tmem245	transmembrane protein 245	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308958	Tmem245	transmembrane protein 245	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308958	Tmem245	transmembrane protein 245	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:10283	prostate cancer		ISO	RGD:1606984	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:10283	prostate cancer		ISO	RGD:1606984	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:10534	stomach cancer		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:1324	lung cancer		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:1909	melanoma		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:3275	thymoma		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:4362	cervical cancer		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:5041	esophageal cancer		ISO	RGD:1606984	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:6039	uveal melanoma		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1308959	Dis3l	DIS3-like exosome 3'-5' exoribonuclease	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308961	Pdcd7	programmed cell death 7	gene	DOID:10534	stomach cancer		ISO	RGD:1319039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308961	Pdcd7	programmed cell death 7	gene	DOID:1909	melanoma		ISO	RGD:1319039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308961	Pdcd7	programmed cell death 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308961	Pdcd7	programmed cell death 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308961	Pdcd7	programmed cell death 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1319039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308961	Pdcd7	programmed cell death 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308961	Pdcd7	programmed cell death 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308962	Plpbp	pyridoxal phosphate binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308962	Plpbp	pyridoxal phosphate binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308962	Plpbp	pyridoxal phosphate binding protein	gene	DOID:0080768	pyridoxine-dependent epilepsy		ISO	RGD:1319041	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1308962	Plpbp	pyridoxal phosphate binding protein	gene	DOID:0080769	early-onset vitamin B6-dependent epilepsy 1		ISO	RGD:1319041	D	RGD:7240710	20190315	OMIM			
1308962	Plpbp	pyridoxal phosphate binding protein	gene	DOID:0080769	early-onset vitamin B6-dependent epilepsy 1		ISO	RGD:1319041	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 1, VITAMIN B6-DEPENDENT | ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT | ClinVar Annotator: match by term: Epilepsy, early-onset, vitamin B6-dependent | ClinVar Annotator: match by term: PLPBP-related condition	PMID:16199547|PMID:25741868|PMID:27912044|PMID:28391250|PMID:28492532|PMID:28914444|PMID:29689137|PMID:30160830|PMID:30525118|PMID:31737911|PMID:31741821|PMID:33728241|PMID:33766999|PMID:33977028
1308962	Plpbp	pyridoxal phosphate binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308962	Plpbp	pyridoxal phosphate binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308962	Plpbp	pyridoxal phosphate binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308962	Plpbp	pyridoxal phosphate binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308962	Plpbp	pyridoxal phosphate binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1319041	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308962	Plpbp	pyridoxal phosphate binding protein	gene	DOID:630	genetic disease		ISO	RGD:1319041	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1308962	Plpbp	pyridoxal phosphate binding protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308962	Plpbp	pyridoxal phosphate binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308962	Plpbp	pyridoxal phosphate binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308963	Lmcd1	LIM and cysteine-rich domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308963	Lmcd1	LIM and cysteine-rich domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308963	Lmcd1	LIM and cysteine-rich domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308963	Lmcd1	LIM and cysteine-rich domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308963	Lmcd1	LIM and cysteine-rich domains 1	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1319043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26301497
1308963	Lmcd1	LIM and cysteine-rich domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1319043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308963	Lmcd1	LIM and cysteine-rich domains 1	gene	DOID:1909	melanoma		ISO	RGD:1319043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308963	Lmcd1	LIM and cysteine-rich domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308963	Lmcd1	LIM and cysteine-rich domains 1	gene	DOID:3275	thymoma		ISO	RGD:1319043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308963	Lmcd1	LIM and cysteine-rich domains 1	gene	DOID:4248	coronary stenosis		ISO	RGD:1319043	D	RGD:243065232|PMID:32160773	20230413	RGD		protein:increased expression:coronary artery	
1308963	Lmcd1	LIM and cysteine-rich domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308963	Lmcd1	LIM and cysteine-rich domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308963	Lmcd1	LIM and cysteine-rich domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308963	Lmcd1	LIM and cysteine-rich domains 1	gene	DOID:988	mitral valve prolapse		ISO	RGD:1319043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26301497
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:0060346	congenital myopathy 13		ISO	RGD:1319045	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:0060346	congenital myopathy 13		ISO	RGD:1319045	D	RGD:7240710	20141015	OMIM			
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:0060346	congenital myopathy 13		ISO	RGD:1319045	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: STAC3-related disorder	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28411587|PMID:28492532|PMID:28777491|PMID:30168660|PMID:32492370|PMID:9536098
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:0080600	COVID-19		ISO	RGD:1319045	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:0081337	congenital myopathy		ISO	RGD:1319045	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:23626854|PMID:25741868|PMID:28411587|PMID:28777491
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:1115	sarcoma		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:1324	lung cancer		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:1909	melanoma		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319045	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:630	genetic disease		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319045	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1319045	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1319045	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1308964	Stac3	SH3 and cysteine rich domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1308965	Lman2	lectin, mannose-binding 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308965	Lman2	lectin, mannose-binding 2	gene	DOID:1324	lung cancer		ISO	RGD:1319046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308965	Lman2	lectin, mannose-binding 2	gene	DOID:1909	melanoma		ISO	RGD:1319046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308965	Lman2	lectin, mannose-binding 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319046	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308965	Lman2	lectin, mannose-binding 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308965	Lman2	lectin, mannose-binding 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308965	Lman2	lectin, mannose-binding 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308965	Lman2	lectin, mannose-binding 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308966	Efs	embryonal Fyn-associated substrate	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319047	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308966	Efs	embryonal Fyn-associated substrate	gene	DOID:10534	stomach cancer		ISO	RGD:1319047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308966	Efs	embryonal Fyn-associated substrate	gene	DOID:1324	lung cancer		ISO	RGD:1319047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308966	Efs	embryonal Fyn-associated substrate	gene	DOID:1909	melanoma		ISO	RGD:1319047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308966	Efs	embryonal Fyn-associated substrate	gene	DOID:5041	esophageal cancer		ISO	RGD:1319047	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308966	Efs	embryonal Fyn-associated substrate	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308966	Efs	embryonal Fyn-associated substrate	gene	DOID:8778	Crohn's disease		ISS	RGD:1319048	D	RGD:13592920	20180518	MouseDO			
1308966	Efs	embryonal Fyn-associated substrate	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308967	Tent5b	terminal nucleotidyltransferase 5B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308967	Tent5b	terminal nucleotidyltransferase 5B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:0080569	congenital disorder of glycosylation Ir		ISO	RGD:1319052	D	RGD:7240710	20140911	OMIM			
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:0080569	congenital disorder of glycosylation Ir		ISO	RGD:1319052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir | ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir | ClinVar Annotator: match by term: DDOST-congenital disorder of glycosylation	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:32383744|PMID:34462534|PMID:37848450|PMID:9536098
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1319052	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:1115	sarcoma		ISO	RGD:1319052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:1909	melanoma		ISO	RGD:1319052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:2394	ovarian cancer		ISO	RGD:1319052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:3275	thymoma		ISO	RGD:1319052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1319052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1319052	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308970	Ddost	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:10534	stomach cancer		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:1115	sarcoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:1324	lung cancer		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:1909	melanoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:3275	thymoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:4362	cervical cancer		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1319056	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308972	Nagpa	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308973	Ncbp1	nuclear cap binding protein subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308973	Ncbp1	nuclear cap binding protein subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319058	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308973	Ncbp1	nuclear cap binding protein subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308973	Ncbp1	nuclear cap binding protein subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1319058	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1308973	Ncbp1	nuclear cap binding protein subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308973	Ncbp1	nuclear cap binding protein subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308973	Ncbp1	nuclear cap binding protein subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319058	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308973	Ncbp1	nuclear cap binding protein subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308973	Ncbp1	nuclear cap binding protein subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308973	Ncbp1	nuclear cap binding protein subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308973	Ncbp1	nuclear cap binding protein subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308973	Ncbp1	nuclear cap binding protein subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308974	Melk	maternal embryonic leucine zipper kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308974	Melk	maternal embryonic leucine zipper kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308974	Melk	maternal embryonic leucine zipper kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1319059	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308974	Melk	maternal embryonic leucine zipper kinase	gene	DOID:1115	sarcoma		ISO	RGD:1319059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308974	Melk	maternal embryonic leucine zipper kinase	gene	DOID:2394	ovarian cancer		ISO	RGD:1319059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
1308974	Melk	maternal embryonic leucine zipper kinase	gene	DOID:3275	thymoma		ISO	RGD:1319059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308974	Melk	maternal embryonic leucine zipper kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1319059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308974	Melk	maternal embryonic leucine zipper kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308974	Melk	maternal embryonic leucine zipper kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319059	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1308974	Melk	maternal embryonic leucine zipper kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308975	Klk12	kallikrein related-peptidase 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308975	Klk12	kallikrein related-peptidase 12	gene	DOID:1324	lung cancer		ISO	RGD:1319061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308975	Klk12	kallikrein related-peptidase 12	gene	DOID:3275	thymoma		ISO	RGD:1319061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308975	Klk12	kallikrein related-peptidase 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308975	Klk12	kallikrein related-peptidase 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308975	Klk12	kallikrein related-peptidase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308976	Prg4	proteoglycan 4	gene	DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome		ISO	RGD:1319063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10545950
1308976	Prg4	proteoglycan 4	gene	DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome		ISO	RGD:1319063	D	RGD:7240710	20130425	OMIM			
1308976	Prg4	proteoglycan 4	gene	DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome		ISO	RGD:1319063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME | ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | ClinVar Annotator: match by term: PRG4-related condition	PMID:21565623|PMID:25741868|PMID:29397575|PMID:31680123|PMID:38593426|PMID:38856641|PMID:41626297
1308976	Prg4	proteoglycan 4	gene	DOID:1115	sarcoma		ISO	RGD:1319063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308976	Prg4	proteoglycan 4	gene	DOID:1787	pericarditis		ISO	RGD:1319063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10545950
1308976	Prg4	proteoglycan 4	gene	DOID:1787	pericarditis		ISO	RGD:1319063	D	RGD:1580712|PMID:16429407	19990101	RGD			
1308976	Prg4	proteoglycan 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308976	Prg4	proteoglycan 4	gene	DOID:630	genetic disease		ISO	RGD:1319063	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1308976	Prg4	proteoglycan 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308976	Prg4	proteoglycan 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308976	Prg4	proteoglycan 4	gene	DOID:9002221	Hyperplasia		ISO	RGD:1319063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10545950
1308976	Prg4	proteoglycan 4	gene	DOID:9006836	Contracture		ISO	RGD:1319063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10545950
1308976	Prg4	proteoglycan 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308976	Prg4	proteoglycan 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308977	Ucma	upper zone of growth plate and cartilage matrix associated	gene	DOID:10126	keratoconus		ISO	RGD:1350104	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Keratoconus	
1308979	Chst8	carbohydrate sulfotransferase 8	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319067	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:0060463	NUT midline carcinoma		ISO	RGD:1319069	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Nut midline carcinoma	PMID:25741868
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:1909	melanoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:3275	thymoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319069	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:8692	myeloid leukemia		ISO	RGD:1319069	D	RGD:1599847|PMID:11986249	20070219	RGD			
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308980	Nsd3	nuclear receptor binding SET domain protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308981	Nlrp9	NLR family, pyrin domain containing 9	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1319070	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:25741868
1308981	Nlrp9	NLR family, pyrin domain containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1319070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308981	Nlrp9	NLR family, pyrin domain containing 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1319070	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308981	Nlrp9	NLR family, pyrin domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308981	Nlrp9	NLR family, pyrin domain containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308981	Nlrp9	NLR family, pyrin domain containing 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1319072	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISS	RGD:1319073	D	RGD:13592920	20180518	MouseDO		OMIM:601457	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:0111961	immunodeficiency 26		ISO	RGD:1319072	D	RGD:7240710	20160615	OMIM			
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:0111961	immunodeficiency 26		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES | ClinVar Annotator: match by term: Immunodeficiency 26 with or without neurologic abnormalities | ClinVar Annotator: match by term: PRKDC-related condition | ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency | ClinVar Annotator: match by term: severe combined immunodeficiency due to DNA-PKcs deficiency	PMID:16199547|PMID:17576681|PMID:19075392|PMID:23722905|PMID:25640679|PMID:25741868|PMID:25842288|PMID:26122175|PMID:28492532|PMID:30121298|PMID:30778343|PMID:31681265|PMID:37580814|PMID:9536098
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:10907	microcephaly		ISO	RGD:1319072	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:1115	sarcoma		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:1324	lung cancer		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:1319072	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224054
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1319072	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25125259
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:1909	melanoma		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:2394	ovarian cancer		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:3275	thymoma		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1319072	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:627	severe combined immunodeficiency		IMP		D	RGD:8696027|PMID:22981234	20170608	RGD			
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1319073	D	RGD:1599202|PMID:9122213	20070119	RGD			
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:850	lung disease		ISO	RGD:1319072	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17200189
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:9000046	Poisoning		ISO	RGD:1319072	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20036648
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319072	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17196815|PMID:25415046
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	IMP		D	RGD:39938998|PMID:30485360	20220120	RGD			
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:9004707	Massive Hepatic Necrosis		ISO	RGD:1319072	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224054
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1319072	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224054
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308982	Prkdc	protein kinase, DNA-activated, catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308983	Zkscan8	zinc finger with KRAB and SCAN domains 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319074	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308983	Zkscan8	zinc finger with KRAB and SCAN domains 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308983	Zkscan8	zinc finger with KRAB and SCAN domains 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308983	Zkscan8	zinc finger with KRAB and SCAN domains 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308984	Zbtb44	zinc finger and BTB domain containing 44	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308984	Zbtb44	zinc finger and BTB domain containing 44	gene	DOID:1909	melanoma		ISO	RGD:1606019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308984	Zbtb44	zinc finger and BTB domain containing 44	gene	DOID:3275	thymoma		ISO	RGD:1606019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308984	Zbtb44	zinc finger and BTB domain containing 44	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1308984	Zbtb44	zinc finger and BTB domain containing 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308984	Zbtb44	zinc finger and BTB domain containing 44	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1308984	Zbtb44	zinc finger and BTB domain containing 44	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308984	Zbtb44	zinc finger and BTB domain containing 44	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308985	Slc35b4	solute carrier family 35 member B4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308985	Slc35b4	solute carrier family 35 member B4	gene	DOID:10534	stomach cancer		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308985	Slc35b4	solute carrier family 35 member B4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308985	Slc35b4	solute carrier family 35 member B4	gene	DOID:1115	sarcoma		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308985	Slc35b4	solute carrier family 35 member B4	gene	DOID:1909	melanoma		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308985	Slc35b4	solute carrier family 35 member B4	gene	DOID:3275	thymoma		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308985	Slc35b4	solute carrier family 35 member B4	gene	DOID:4362	cervical cancer		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308985	Slc35b4	solute carrier family 35 member B4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1308985	Slc35b4	solute carrier family 35 member B4	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1308985	Slc35b4	solute carrier family 35 member B4	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1308985	Slc35b4	solute carrier family 35 member B4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308986	Jrkl	JRK-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308986	Jrkl	JRK-like	gene	DOID:1115	sarcoma		ISO	RGD:1319078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308986	Jrkl	JRK-like	gene	DOID:3275	thymoma		ISO	RGD:1319078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308986	Jrkl	JRK-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308989	Gsdmc	gasdermin C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308989	Gsdmc	gasdermin C	gene	DOID:1115	sarcoma		ISO	RGD:1319081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308989	Gsdmc	gasdermin C	gene	DOID:1324	lung cancer		ISO	RGD:1319081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308989	Gsdmc	gasdermin C	gene	DOID:2394	ovarian cancer		ISO	RGD:1319081	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1308989	Gsdmc	gasdermin C	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1319081	D	RGD:626467896|PMID:36505798	20250909	RGD		mRNA, protein:increased expression, decreased methylation:lung (human)	
1308989	Gsdmc	gasdermin C	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1319081	D	RGD:626467896|PMID:36505798	20250909	RGD		mRNA:increased expression:lung (human)	
1308989	Gsdmc	gasdermin C	gene	DOID:4362	cervical cancer		ISO	RGD:1319081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308989	Gsdmc	gasdermin C	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1308989	Gsdmc	gasdermin C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308990	Ddx10	DEAD-box helicase 10	gene	DOID:1059	intellectual disability		ISO	RGD:1319083	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Intellectual disability syndrome	
1308990	Ddx10	DEAD-box helicase 10	gene	DOID:1115	sarcoma		ISO	RGD:1319083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308990	Ddx10	DEAD-box helicase 10	gene	DOID:1909	melanoma		ISO	RGD:1319083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308990	Ddx10	DEAD-box helicase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308990	Ddx10	DEAD-box helicase 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308990	Ddx10	DEAD-box helicase 10	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319083	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	
1308990	Ddx10	DEAD-box helicase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308990	Ddx10	DEAD-box helicase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308992	Scyl3	SCY1 like pseudokinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308992	Scyl3	SCY1 like pseudokinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308992	Scyl3	SCY1 like pseudokinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308992	Scyl3	SCY1 like pseudokinase 3	gene	DOID:3070	high grade glioma		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1308992	Scyl3	SCY1 like pseudokinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603625	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308992	Scyl3	SCY1 like pseudokinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308992	Scyl3	SCY1 like pseudokinase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1308992	Scyl3	SCY1 like pseudokinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308992	Scyl3	SCY1 like pseudokinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308992	Scyl3	SCY1 like pseudokinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308992	Scyl3	SCY1 like pseudokinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308993	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308993	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308993	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:10534	stomach cancer		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308993	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308993	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:1115	sarcoma		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308993	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603971	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308993	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:4362	cervical cancer		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308993	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308993	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308993	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1308993	Marchf7	membrane associated ring-CH-type finger 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:1115	sarcoma		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:12849	autistic disorder		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:1324	lung cancer		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:1909	melanoma		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:3275	thymoma		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:9001733	Tinnitus		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:9002554	Tachycardia		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:25741868
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:9002589	Bone Fractures		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:9007736	Vertigo		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1308995	Dennd2b	DENN domain containing 2B	gene	DOID:9256	colorectal cancer		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308996	S100a5	S100 calcium binding protein A5	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1319090	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25257527
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:1115	sarcoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:1909	melanoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1319094	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:3275	thymoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1319094	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319094	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1308998	Abca6	ATP binding cassette subfamily A member 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1308999	Cldn9	claudin 9	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1319096	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:25741868
1308999	Cldn9	claudin 9	gene	DOID:0060744	Pendred syndrome		ISO	RGD:1319096	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Pendred syndrome	PMID:30311386|PMID:35802133|PMID:36633841
1308999	Cldn9	claudin 9	gene	DOID:0112162	autosomal recessive nonsyndromic deafness 116		ISO	RGD:1319096	D	RGD:7240710	20201202	OMIM			
1308999	Cldn9	claudin 9	gene	DOID:0112162	autosomal recessive nonsyndromic deafness 116		ISO	RGD:1319096	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CLDN9-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 116	PMID:25741868|PMID:31175426
1308999	Cldn9	claudin 9	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319096	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1308999	Cldn9	claudin 9	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319099	D	RGD:158014899|PMID:26029872	20230321	RGD			
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:0060260	ptosis		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:0080000	muscular disease		ISO	RGD:1319099	D	RGD:1580857|PMID:10760285	19990101	RGD			
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:1059	intellectual disability		ISO	RGD:1319098	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:10629	microphthalmia		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:10907	microcephaly		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:12859	choreatic disease		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:1324	lung cancer		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:1909	melanoma		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:3070	high grade glioma		ISO	RGD:1319098	D	RGD:1580007|PMID:15696967	19990101	RGD			
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:3275	thymoma		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:4362	cervical cancer		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:543	dystonia		ISO	RGD:1319098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: dystonia	PMID:25741868
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:630	genetic disease		ISO	RGD:1319098	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:9003133	Hypertelorism		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:9003163	Heart Block		ISO	RGD:1319099	D	RGD:1580857|PMID:10760285	19990101	RGD			
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319098	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:32442410
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:9004866	Ataxia		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ataxia	
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:9005634	Tolchin-Le Caignec Syndrome		ISO	RGD:1319098	D	RGD:7240710	20200812	OMIM			
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:9005634	Tolchin-Le Caignec Syndrome		ISO	RGD:1319098	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND VARIABLE BONE DEFECTS | ClinVar Annotator: match by term: SOX6-related condition | ClinVar Annotator: match by term: TOLCHIN-LE CAIGNEC SYNDROME | ClinVar Annotator: match by term: Tolchin-Le Caignec syndrome	PMID:25741868|PMID:28492532|PMID:32442410
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1319099	D	RGD:1581307|PMID:16148004	19990101	RGD			
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:9008582	Developmental Disease		ISO	RGD:1319098	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:9008675	Dyskinesias		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309000	Sox6	SRY-box transcription factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309001	Cldn23	claudin 23	gene	DOID:3310	atopic dermatitis		ISO	RGD:1319100	D	RGD:11344875|PMID:21163515	20160707	RGD		mRNA:decreased expression:epidermis:	
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:0110432	dilated cardiomyopathy 1NN		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1NN	PMID:25741868
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:0112315	brain small vessel disease 3		ISO	RGD:1344980	D	RGD:7240710	20190911	OMIM			
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:0112315	brain small vessel disease 3		ISO	RGD:1344980	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 3 | ClinVar Annotator: match by term: Brain small vessel disease 3 | ClinVar Annotator: match by term: COLGALT1-related condition | ClinVar Annotator: match by term: brain small vessel disease 3	PMID:25741868|PMID:28492532
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344980	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:33077954
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:8725	vascular dementia		ISO	RGD:1344980	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309002	Colgalt1	collagen beta(1-O)galactosyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:1115	sarcoma		ISO	RGD:1319103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:1324	lung cancer		ISO	RGD:1319103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:4362	cervical cancer		ISO	RGD:1319103	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:5041	esophageal cancer		ISO	RGD:1319103	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:9009280	Idiopathic Generalized Epilepsy 19		ISO	RGD:1319103	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 19 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 19	PMID:25741868
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:9009280	Idiopathic Generalized Epilepsy 19	susceptibility	ISO	RGD:1319103	D	RGD:7240710	20250122	OMIM			
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:1319103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:25741868|PMID:38875478
1309003	Usp25	ubiquitin specific peptidase 25	gene	DOID:9256	colorectal cancer		ISO	RGD:1319103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309004	Zkscan4	zinc finger with KRAB and SCAN domains 4	gene	DOID:1115	sarcoma		ISO	RGD:1319105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309004	Zkscan4	zinc finger with KRAB and SCAN domains 4	gene	DOID:1324	lung cancer		ISO	RGD:1319105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309004	Zkscan4	zinc finger with KRAB and SCAN domains 4	gene	DOID:5419	schizophrenia		ISO	RGD:1319105	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22037552
1309004	Zkscan4	zinc finger with KRAB and SCAN domains 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319105	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309004	Zkscan4	zinc finger with KRAB and SCAN domains 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:1319106	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	PMID:28492532
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0050581	brachydactyly		ISO	RGD:1319106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:20232219|PMID:28492532|PMID:37091313
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0051028	autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis		ISO	RGD:1319106	D	RGD:7240710	20170315	OMIM			
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0051028	autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis		ISO	RGD:1319106	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE	PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12843336|PMID:14561495|PMID:15192818|PMID:15944907|PMID:16172208|PMID:16199547|PMID:18021315|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:19500985|PMID:20849849|PMID:21212451|PMID:21692914|PMID:21840889|PMID:21890626|PMID:22206013|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:31211173|PMID:33480199|PMID:34057104|PMID:34366782|PMID:35509130|PMID:38523675
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K		ISO	RGD:1319106	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K		ISO	RGD:1319106	D	RGD:12738396|PMID:20232219	20170202	RGD		DNA:missense mutation:cds:p.L239F (human)	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K		ISO	RGD:1319106	D	RGD:12738397|PMID:18492089	20170202	RGD		DNA:missense mutation:cds:p.P231L (human)	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K		ISO	RGD:1319106	D	RGD:7240710	20130221	OMIM			
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K		ISO	RGD:1319106	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K	PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12843336|PMID:14561495|PMID:15192818|PMID:15805163|PMID:15944907|PMID:16172208|PMID:16199547|PMID:18021315|PMID:18231710|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:19089472|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20685671|PMID:20849849|PMID:21212451|PMID:21692914|PMID:21753178|PMID:21840889|PMID:21890626|PMID:22206013|PMID:23628762|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:31211173|PMID:32183277|PMID:33480199|PMID:34057104|PMID:34366782|PMID:35509130|PMID:37091313|PMID:38523675|PMID:40711989
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K		ISS	RGD:1319107	D	RGD:13592920	20230718	MouseDO		OMIM:607831	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110182	Charcot-Marie-Tooth disease axonal type 2C		ISO	RGD:1319106	D	RGD:12738395|PMID:21365284	20170202	RGD		DNA:missense mutation:cds:p.G327D (human)	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110185	Charcot-Marie-Tooth disease type 4A		ISO	RGD:1319106	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110185	Charcot-Marie-Tooth disease type 4A		ISO	RGD:1319106	D	RGD:12738391|PMID:11743579	20170202	RGD		DNA:nonsense mutations, missense mutation:cds:p.W31X, p.S194X, p.R161H (human)	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110185	Charcot-Marie-Tooth disease type 4A		ISO	RGD:1319106	D	RGD:12738393|PMID:11743580	20170202	RGD		DNA:nonsense mutations, frameshift mutation:cds:p.Q163X, p.S194X, p.T288fsX290 (human)	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110185	Charcot-Marie-Tooth disease type 4A		ISO	RGD:1319106	D	RGD:7240710	20130221	OMIM			
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110185	Charcot-Marie-Tooth disease type 4A		ISO	RGD:1319106	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A | ClinVar Annotator: match by term: CMT4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4A	PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12843336|PMID:12868504|PMID:14561495|PMID:15192818|PMID:15377708|PMID:15469949|PMID:15805163|PMID:15944907|PMID:16172208|PMID:16199547|PMID:17433678|PMID:17576681|PMID:18021315|PMID:18231710|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19340293|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21212451|PMID:21322820|PMID:21326314|PMID:21365284|PMID:21692914|PMID:21753178|PMID:21840889|PMID:21890626|PMID:21965300|PMID:22206013|PMID:22971097|PMID:23466821|PMID:23628762|PMID:25231362|PMID:25429913|PMID:25614874|PMID:25741868|PMID:26467025|PMID:26525999|PMID:26648837|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29184355|PMID:29372391|PMID:29858556|PMID:31069529|PMID:31211173|PMID:31827005|PMID:32298515|PMID:32376792|PMID:33179230|PMID:33477664|PMID:33480199|PMID:33903021|PMID:34057104|PMID:34169998|PMID:34190362|PMID:34366782|PMID:35177962|PMID:35509130|PMID:36912213|PMID:37091313|PMID:38523675|PMID:9536098
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110201	Charcot-Marie-Tooth disease recessive intermediate A		ISO	RGD:1319106	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110201	Charcot-Marie-Tooth disease recessive intermediate A		ISO	RGD:1319106	D	RGD:7240710	20130221	OMIM			
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:0110201	Charcot-Marie-Tooth disease recessive intermediate A		ISO	RGD:1319106	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A	PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12843336|PMID:14561495|PMID:15192818|PMID:15944907|PMID:16172208|PMID:16199547|PMID:18021315|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:19500985|PMID:20849849|PMID:21212451|PMID:21322820|PMID:21365284|PMID:21692914|PMID:21840889|PMID:21890626|PMID:22206013|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:29858556|PMID:31069529|PMID:31211173|PMID:32376792|PMID:33477664|PMID:33480199|PMID:34057104|PMID:34366782|PMID:35509130|PMID:38523675
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1319106	D	RGD:1358634|PMID:12499475	19990101	RGD		DNA:nonsense mutation, deletion, missense mutation:exons:p.S194X, c.786delg, p.G262fsX284 (human)	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1319106	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia	PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12843336|PMID:12868504|PMID:14561495|PMID:15019704|PMID:15192818|PMID:15377708|PMID:15469949|PMID:15805163|PMID:15944907|PMID:16172208|PMID:16199547|PMID:16343542|PMID:17001820|PMID:17039978|PMID:17433678|PMID:18021315|PMID:18062449|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19340293|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21322820|PMID:21326314|PMID:21519004|PMID:21692914|PMID:21753178|PMID:21890626|PMID:21965300|PMID:22206013|PMID:22546700|PMID:22730194|PMID:22971097|PMID:23456260|PMID:23466821|PMID:23628762|PMID:23963299|PMID:24078732|PMID:24627108|PMID:25231362|PMID:25337607|PMID:25429913|PMID:25614874|PMID:257|PMID:25741868|PMID:26467025|PMID:26525999|PMID:26848201|PMID:27549087|PMID:27841286|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:29858556|PMID:31069529|PMID:31673878|PMID:32376792|PMID:33136338|PMID:33187793|PMID:34366782
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1319106	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia	PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12843336|PMID:14561495|PMID:15019704|PMID:15192818|PMID:15377708|PMID:15469949|PMID:15805163|PMID:15944907|PMID:16199547|PMID:16343542|PMID:17001820|PMID:18021315|PMID:18062449|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20685671|PMID:20849849|PMID:21322820|PMID:21326314|PMID:21692914|PMID:21890626|PMID:21965300|PMID:22206013|PMID:22730194|PMID:22971097|PMID:23628762|PMID:24078732|PMID:25231362|PMID:25337607|PMID:25429913|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:29858556|PMID:31069529|PMID:31211173|PMID:31673878|PMID:32376792|PMID:33480199|PMID:34057104|PMID:34366782|PMID:35509130|PMID:37091313
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1319106	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12843336|PMID:14561495|PMID:15019704|PMID:15192818|PMID:15377708|PMID:15469949|PMID:15805163|PMID:15944907|PMID:16199547|PMID:16343542|PMID:17001820|PMID:18021315|PMID:18062449|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20685671|PMID:20849849|PMID:21322820|PMID:21326314|PMID:21692914|PMID:21890626|PMID:21965300|PMID:22206013|PMID:22730194|PMID:22971097|PMID:23628762|PMID:24078732|PMID:25231362|PMID:25337607|PMID:25429913|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:29858556|PMID:31069529|PMID:31211173|PMID:31673878|PMID:33480199|PMID:34057104|PMID:34366782|PMID:35509130|PMID:37091313
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1319107	D	RGD:12738398|PMID:24480485	20170202	RGD			
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1319106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:1389	polyneuropathy		ISO	RGD:1319106	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:12499475|PMID:25614874|PMID:25741868|PMID:28492532
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:1319106	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	PMID:12499475|PMID:21322820|PMID:25614874|PMID:25741868|PMID:28492532|PMID:29858556|PMID:31069529
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:630	genetic disease		ISO	RGD:1319106	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12499475|PMID:14561495|PMID:15192818|PMID:17576681|PMID:18021315|PMID:18492089|PMID:18812441|PMID:20849849|PMID:21326314|PMID:21692914|PMID:22206013|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28244113|PMID:28492532|PMID:28495047|PMID:29372391|PMID:31211173|PMID:32376792|PMID:33480199|PMID:34057104|PMID:34366782|PMID:35509130|PMID:9536098
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:870	neuropathy		ISO	RGD:1319106	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:18421898|PMID:18504680|PMID:25741868|PMID:28244113|PMID:28492532|PMID:28751717
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1319106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:20232219|PMID:28492532|PMID:37091313
1309005	Gdap1	ganglioside-induced differentiation-associated-protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309006	Tmem68	transmembrane protein 68	gene	DOID:10534	stomach cancer		ISO	RGD:1603902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309006	Tmem68	transmembrane protein 68	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309006	Tmem68	transmembrane protein 68	gene	DOID:1324	lung cancer		ISO	RGD:1603902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309006	Tmem68	transmembrane protein 68	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309006	Tmem68	transmembrane protein 68	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309006	Tmem68	transmembrane protein 68	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309007	Mnd1	meiotic nuclear divisions 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309007	Mnd1	meiotic nuclear divisions 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309007	Mnd1	meiotic nuclear divisions 1	gene	DOID:1909	melanoma		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309007	Mnd1	meiotic nuclear divisions 1	gene	DOID:3070	high grade glioma		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309007	Mnd1	meiotic nuclear divisions 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604777	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309007	Mnd1	meiotic nuclear divisions 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309007	Mnd1	meiotic nuclear divisions 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309007	Mnd1	meiotic nuclear divisions 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309007	Mnd1	meiotic nuclear divisions 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309008	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309008	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309008	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309008	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:1909	melanoma		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309008	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:3275	thymoma		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309008	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309008	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309008	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:6039	uveal melanoma		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309008	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309008	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309008	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309008	Def8	differentially expressed in FDCP 8 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309009	Ppfia1	PPFI scaffold protein A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309009	Ppfia1	PPFI scaffold protein A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309009	Ppfia1	PPFI scaffold protein A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309009	Ppfia1	PPFI scaffold protein A1	gene	DOID:1115	sarcoma		ISO	RGD:1319111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309009	Ppfia1	PPFI scaffold protein A1	gene	DOID:1909	melanoma		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309009	Ppfia1	PPFI scaffold protein A1	gene	DOID:4362	cervical cancer		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309009	Ppfia1	PPFI scaffold protein A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309009	Ppfia1	PPFI scaffold protein A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309009	Ppfia1	PPFI scaffold protein A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309009	Ppfia1	PPFI scaffold protein A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309009	Ppfia1	PPFI scaffold protein A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:0060058	lymphoma		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:0070640	hereditary spastic paraplegia 18A		ISO	RGD:1350824	D	RGD:7240710	20250806	OMIM			
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:0070640	hereditary spastic paraplegia 18A		ISO	RGD:1350824	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominant	PMID:25741868|PMID:28492532|PMID:32042907|PMID:32094424|PMID:34734492|PMID:38607533
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:0070641	hereditary spastic paraplegia 18B		ISO	RGD:1350824	D	RGD:7240710	20250806	OMIM			
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:0070641	hereditary spastic paraplegia 18B		ISO	RGD:1350824	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 18B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 18b, autosomal recessive	PMID:25741868|PMID:42120987
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:0110771	hereditary spastic paraplegia 18		ISO	RGD:1350824	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:0110771	hereditary spastic paraplegia 18		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ERLIN2-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 18	PMID:25741868|PMID:28492532
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:1059	intellectual disability		ISO	RGD:1350824	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:1324	lung cancer		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:18414213|PMID:25741868|PMID:28492532
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350824	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:607	paraplegia		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21330303|PMID:23109145|PMID:24482476|PMID:25741868|PMID:27824013|PMID:28492532|PMID:28832565|PMID:32042907|PMID:32147972|PMID:34734492|PMID:38607533|PMID:9536098
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:630	genetic disease		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309010	Erlin2	ER lipid raft associated 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1350824	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1309012	Rnaseh1	ribonuclease H1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319116	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1309012	Rnaseh1	ribonuclease H1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1309012	Rnaseh1	ribonuclease H1	gene	DOID:0060260	ptosis		ISO	RGD:1319116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:26094573|PMID:28492532|PMID:28508084|PMID:30340744|PMID:35711919
1309012	Rnaseh1	ribonuclease H1	gene	DOID:0111515	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2		ISO	RGD:1319116	D	RGD:7240710	20170405	OMIM			
1309012	Rnaseh1	ribonuclease H1	gene	DOID:0111515	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2		ISO	RGD:1319116	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | ClinVar Annotator: match by term: RNASEH1-related condition	PMID:25741868|PMID:26094573|PMID:28492532|PMID:28508084|PMID:30340744|PMID:35711919
1309012	Rnaseh1	ribonuclease H1	gene	DOID:10534	stomach cancer		ISO	RGD:1319116	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1309012	Rnaseh1	ribonuclease H1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309012	Rnaseh1	ribonuclease H1	gene	DOID:1324	lung cancer		ISO	RGD:1319116	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1309012	Rnaseh1	ribonuclease H1	gene	DOID:1909	melanoma		ISO	RGD:1319116	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1309012	Rnaseh1	ribonuclease H1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319116	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1309012	Rnaseh1	ribonuclease H1	gene	DOID:4362	cervical cancer		ISO	RGD:1319116	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1309012	Rnaseh1	ribonuclease H1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319116	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1309012	Rnaseh1	ribonuclease H1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319116	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1309012	Rnaseh1	ribonuclease H1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319116	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1309012	Rnaseh1	ribonuclease H1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319116	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1309012	Rnaseh1	ribonuclease H1	gene	DOID:630	genetic disease		ISO	RGD:1319116	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26094573|PMID:28492532|PMID:28508084|PMID:30340744|PMID:35711919
1309012	Rnaseh1	ribonuclease H1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1319116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:26094573|PMID:28492532|PMID:28508084|PMID:30340744|PMID:35711919
1309012	Rnaseh1	ribonuclease H1	gene	DOID:9001722	Dysarthria		ISO	RGD:1319116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:26094573|PMID:28492532|PMID:28508084|PMID:30340744|PMID:35711919
1309012	Rnaseh1	ribonuclease H1	gene	DOID:9003286	Diplopia		ISO	RGD:1319116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diplopia	PMID:25741868|PMID:26094573|PMID:28492532|PMID:28508084|PMID:30340744|PMID:35711919
1309012	Rnaseh1	ribonuclease H1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1309012	Rnaseh1	ribonuclease H1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319116	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1309013	Son	SON DNA and RNA binding protein	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319118	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1309013	Son	SON DNA and RNA binding protein	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:0060953	ZTTK syndrome		ISO	RGD:1319118	D	RGD:11560664|PMID:27545680	20221108	RGD		DNA:missense mutations:exon 3:multiple (human)	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:0060953	ZTTK syndrome		ISO	RGD:1319118	D	RGD:11560855|PMID:27545676	20221108	RGD		DNA:missense mutations:exon 3,4:multiple (human)	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:0060953	ZTTK syndrome		ISO	RGD:1319118	D	RGD:155641263|PMID:32705777	20221107	RGD		DNA:frameshift mutation:cds:p.Ala1340GlnfsTer26|p.Asp1640GlyfsTer7 (human)	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:0060953	ZTTK syndrome		ISO	RGD:1319118	D	RGD:7240710	20190315	OMIM			
1309013	Son	SON DNA and RNA binding protein	gene	DOID:0060953	ZTTK syndrome		ISO	RGD:1319118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SON-related condition | ClinVar Annotator: match by term: ZHU-TOKITA-TAKENOUCHI-KIM SYNDROME | ClinVar Annotator: match by term: ZTTK SYNDROME | ClinVar Annotator: match by term: ZTTK syndrome	PMID:25590979|PMID:25741868|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532|PMID:31474762|PMID:32368696|PMID:34521999|PMID:36549658|PMID:36875494
1309013	Son	SON DNA and RNA binding protein	gene	DOID:0060953	ZTTK syndrome		ISS	RGD:1319119	D	RGD:13592920	20250828	MouseDO		OMIM:617140	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:0070297	primary microcephaly		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:28492532
1309013	Son	SON DNA and RNA binding protein	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1319118	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1309013	Son	SON DNA and RNA binding protein	gene	DOID:0112359	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		ISO	RGD:1319118	D	RGD:155641262|PMID:31005274	20221107	RGD		DNA:missense mutations:exon 3:multiple (human)	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:1319118	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1309013	Son	SON DNA and RNA binding protein	gene	DOID:10907	microcephaly		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1309013	Son	SON DNA and RNA binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:12215	oligohydramnios		ISO	RGD:1319118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
1309013	Son	SON DNA and RNA binding protein	gene	DOID:12849	autistic disorder		ISO	RGD:1319118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1309013	Son	SON DNA and RNA binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:13620	patent foramen ovale		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1309013	Son	SON DNA and RNA binding protein	gene	DOID:1657	ventricular septal defect		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1309013	Son	SON DNA and RNA binding protein	gene	DOID:1826	epilepsy		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:1909	melanoma		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:1969	cerebral palsy		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:3275	thymoma		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:3650	lactic acidosis		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1319118	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1309013	Son	SON DNA and RNA binding protein	gene	DOID:630	genetic disease		ISO	RGD:1319118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36973392
1309013	Son	SON DNA and RNA binding protein	gene	DOID:8469	influenza		ISO	RGD:1319119	D	RGD:155641258|PMID:34883209	20221107	RGD			
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9000343	Vision Disorders		ISO	RGD:1319118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9001510	Funnel Chest		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9001733	Tinnitus		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9002554	Tachycardia		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9003133	Hypertelorism		ISO	RGD:1319118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1319118	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9003507	Premature Birth		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:34521999
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9003539	Hyperacusis		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9003816	Macrocephaly		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9004992	Apnea		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9005077	Joint Instability		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9008582	Developmental Disease		ISO	RGD:1319118	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1319118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Respiratory tract infection	PMID:25741868
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309013	Son	SON DNA and RNA binding protein	gene	DOID:9834	hyperopia		ISO	RGD:1319118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1309014	Zdhhc19	zDHHC palmitoyltransferase 19	gene	DOID:10534	stomach cancer		ISO	RGD:1346417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309014	Zdhhc19	zDHHC palmitoyltransferase 19	gene	DOID:1324	lung cancer		ISO	RGD:1346417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309014	Zdhhc19	zDHHC palmitoyltransferase 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309014	Zdhhc19	zDHHC palmitoyltransferase 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309014	Zdhhc19	zDHHC palmitoyltransferase 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309015	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309015	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309015	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309015	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309015	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319121	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309015	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309015	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309015	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309015	Scube1	signal peptide, CUB domain and EGF like domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309016	Enoph1	enolase-phosphatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309016	Enoph1	enolase-phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309016	Enoph1	enolase-phosphatase 1	gene	DOID:10316	pneumoconiosis		ISO	RGD:1603616	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
1309016	Enoph1	enolase-phosphatase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309016	Enoph1	enolase-phosphatase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309016	Enoph1	enolase-phosphatase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603616	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309016	Enoph1	enolase-phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309017	Ehd1	EH-domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319124	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:35616188
1309017	Ehd1	EH-domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1319124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309017	Ehd1	EH-domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309017	Ehd1	EH-domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319124	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309017	Ehd1	EH-domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309017	Ehd1	EH-domain containing 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1319124	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:35616188
1309017	Ehd1	EH-domain containing 1	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1319124	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:35616188
1309017	Ehd1	EH-domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309017	Ehd1	EH-domain containing 1	gene	DOID:9970	obesity		IEP		D	RGD:8661255|PMID:21365757	20171212	RGD			
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:1324	lung cancer		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:2394	ovarian cancer		ISO	RGD:1319125	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:3070	high grade glioma		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:3275	thymoma		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:4362	cervical cancer		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:5041	esophageal cancer		ISO	RGD:1319125	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1319125	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309018	Eif3b	eukaryotic translation initiation factor 3, subunit B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309019	Rasal3	RAS protein activator like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2302537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309019	Rasal3	RAS protein activator like 3	gene	DOID:1909	melanoma		ISO	RGD:2302537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309019	Rasal3	RAS protein activator like 3	gene	DOID:3070	high grade glioma		ISO	RGD:2302537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309019	Rasal3	RAS protein activator like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:2302537	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309019	Rasal3	RAS protein activator like 3	gene	DOID:8761	acute megakaryocytic leukemia		ISO	RGD:2302537	D	RGD:8554872	20160112	ClinVar		ClinVar Annotator: match by term: Acute megakaryoblastic leukemia	
1309019	Rasal3	RAS protein activator like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2302537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309019	Rasal3	RAS protein activator like 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2302537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309020	Snrnp48	small nuclear ribonucleoprotein U11/U12 subunit 48	gene	DOID:0090128	Carvajal syndrome		ISO	RGD:1319128	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Carvajal syndrome	PMID:28492532
1309020	Snrnp48	small nuclear ribonucleoprotein U11/U12 subunit 48	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309020	Snrnp48	small nuclear ribonucleoprotein U11/U12 subunit 48	gene	DOID:3275	thymoma		ISO	RGD:1319128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309020	Snrnp48	small nuclear ribonucleoprotein U11/U12 subunit 48	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309020	Snrnp48	small nuclear ribonucleoprotein U11/U12 subunit 48	gene	DOID:5041	esophageal cancer		ISO	RGD:1319128	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309020	Snrnp48	small nuclear ribonucleoprotein U11/U12 subunit 48	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309020	Snrnp48	small nuclear ribonucleoprotein U11/U12 subunit 48	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309020	Snrnp48	small nuclear ribonucleoprotein U11/U12 subunit 48	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309020	Snrnp48	small nuclear ribonucleoprotein U11/U12 subunit 48	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309022	Bco2	beta-carotene oxygenase 2	gene	DOID:1909	melanoma		ISO	RGD:1319131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309022	Bco2	beta-carotene oxygenase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309022	Bco2	beta-carotene oxygenase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319131	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1309022	Bco2	beta-carotene oxygenase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309022	Bco2	beta-carotene oxygenase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309022	Bco2	beta-carotene oxygenase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309023	Mex3c	mex-3 RNA binding family member C	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1319133	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1309023	Mex3c	mex-3 RNA binding family member C	gene	DOID:1324	lung cancer		ISO	RGD:1319133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309023	Mex3c	mex-3 RNA binding family member C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309023	Mex3c	mex-3 RNA binding family member C	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1319133	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1309025	Nsmce4a	NSE4A component of SMC5/6 complex	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1319136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1309025	Nsmce4a	NSE4A component of SMC5/6 complex	gene	DOID:10534	stomach cancer		ISO	RGD:1319136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309025	Nsmce4a	NSE4A component of SMC5/6 complex	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309025	Nsmce4a	NSE4A component of SMC5/6 complex	gene	DOID:4362	cervical cancer		ISO	RGD:1319136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309025	Nsmce4a	NSE4A component of SMC5/6 complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1319136	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309025	Nsmce4a	NSE4A component of SMC5/6 complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309025	Nsmce4a	NSE4A component of SMC5/6 complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309029	Tomm34	translocase of outer mitochondrial membrane 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309029	Tomm34	translocase of outer mitochondrial membrane 34	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309029	Tomm34	translocase of outer mitochondrial membrane 34	gene	DOID:1115	sarcoma		ISO	RGD:1319142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309029	Tomm34	translocase of outer mitochondrial membrane 34	gene	DOID:1324	lung cancer		ISO	RGD:1319142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309029	Tomm34	translocase of outer mitochondrial membrane 34	gene	DOID:4362	cervical cancer		ISO	RGD:1319142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309029	Tomm34	translocase of outer mitochondrial membrane 34	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309029	Tomm34	translocase of outer mitochondrial membrane 34	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:0070764	primary ciliary dyskinesia 51		ISO	RGD:1345101	D	RGD:7240710	20230712	OMIM			
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:0070764	primary ciliary dyskinesia 51		ISO	RGD:1345101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRWD1-related condition | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 51 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 51	PMID:25741868
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1345101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1345101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism	PMID:22495309|PMID:25741868
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:14228	oligospermia		ISO	RGD:1345101	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18353305
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1345101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1345101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1345101	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1345101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309030	Brwd1	bromodomain and WD repeat domain containing 1	gene	DOID:9563	bronchiectasis		ISO	RGD:1345101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	
1309031	Hltf	helicase-like transcription factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309031	Hltf	helicase-like transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319146	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309031	Hltf	helicase-like transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309031	Hltf	helicase-like transcription factor	gene	DOID:1324	lung cancer		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309031	Hltf	helicase-like transcription factor	gene	DOID:1909	melanoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309031	Hltf	helicase-like transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:1319146	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309031	Hltf	helicase-like transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309031	Hltf	helicase-like transcription factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309031	Hltf	helicase-like transcription factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309031	Hltf	helicase-like transcription factor	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1319146	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762066
1309031	Hltf	helicase-like transcription factor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309031	Hltf	helicase-like transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309031	Hltf	helicase-like transcription factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309033	Ribc2	RIB43A domain with coiled-coils 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1351194	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
1309033	Ribc2	RIB43A domain with coiled-coils 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309034	Rpap2	RNA polymerase II associated protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1602679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309034	Rpap2	RNA polymerase II associated protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602679	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309034	Rpap2	RNA polymerase II associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309037	Prcc	proline rich mitotic checkpoint control factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309037	Prcc	proline rich mitotic checkpoint control factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309037	Prcc	proline rich mitotic checkpoint control factor	gene	DOID:1909	melanoma		ISO	RGD:1319153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309037	Prcc	proline rich mitotic checkpoint control factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309037	Prcc	proline rich mitotic checkpoint control factor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1319153	D	RGD:11554173	20191015	CTD		CTD Direct Evidence: marker/mechanism	
1309037	Prcc	proline rich mitotic checkpoint control factor	gene	DOID:4465	papillary renal cell carcinoma		ISO	RGD:1319153	D	RGD:7240710	20180919	OMIM			
1309037	Prcc	proline rich mitotic checkpoint control factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1319153	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309037	Prcc	proline rich mitotic checkpoint control factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309037	Prcc	proline rich mitotic checkpoint control factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309037	Prcc	proline rich mitotic checkpoint control factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309037	Prcc	proline rich mitotic checkpoint control factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:1348846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	PMID:16199547|PMID:20220177|PMID:27068304|PMID:28492532
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1348846	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:14574644|PMID:16199547|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:19763152|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20307669|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22406018|PMID:22462672|PMID:22730194|PMID:22938532|PMID:22950825|PMID:22978647|PMID:23281072|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27025386|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:28518168|PMID:28902413|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31130284|PMID:31211173|PMID:31227790|PMID:31346473|PMID:31372974|PMID:31393079|PMID:31634715|PMID:31673878|PMID:31692161|PMID:31827005|PMID:32376792|PMID:32461654|PMID:32657593|PMID:33643188|PMID:34049139|PMID:34085946|PMID:34190362|PMID:34193129|PMID:34255403|PMID:36947133|PMID:37091313|PMID:37273706|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1348846	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:14574644|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19272779|PMID:19763152|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20307669|PMID:21291453|PMID:22406018|PMID:22462672|PMID:22730194|PMID:22950825|PMID:23466821|PMID:25025039|PMID:25429913|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26558264|PMID:26872463|PMID:27025386|PMID:27068304|PMID:27582484|PMID:28492532|PMID:28902413|PMID:29184351|PMID:29590070|PMID:30001926|PMID:30373780|PMID:31227790|PMID:31372974|PMID:31393079|PMID:31634715|PMID:31692161|PMID:31827005|PMID:32376792|PMID:33643188|PMID:34049139|PMID:34190362|PMID:37091313|PMID:37273706|PMID:37372933|PMID:38707135|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:0050543	Charcot-Marie-Tooth disease intermediate type		ISO	RGD:1348846	D	RGD:8554872	20200114	ClinVar		ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease	
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:0050581	brachydactyly		ISO	RGD:1348846	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:28492532|PMID:32376792|PMID:37091313
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:0060249	scoliosis		ISO	RGD:1348846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:14574644|PMID:20220177|PMID:20301514|PMID:25741868|PMID:27068304|PMID:28492532
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:0110152	Charcot-Marie-Tooth disease type 1B		ISO	RGD:1348846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IB	PMID:17576681|PMID:25741868|PMID:28492532|PMID:37372933|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:0110183	Charcot-Marie-Tooth disease type 4C		ISO	RGD:1348846	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:0110183	Charcot-Marie-Tooth disease type 4C		ISO	RGD:1348846	D	RGD:7240710	20130221	OMIM			
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:0110183	Charcot-Marie-Tooth disease type 4C		ISO	RGD:1348846	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C | ClinVar Annotator: match by term: SH3TC2-related disorder	PMID:14574644|PMID:16199547|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23281072|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:28518168|PMID:29184351|PMID:29321516|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31130284|PMID:31346473|PMID:31634715|PMID:31673878|PMID:32376792|PMID:32461654|PMID:32657593|PMID:34049139|PMID:34085946|PMID:34193129|PMID:36947133|PMID:37091313|PMID:37273706|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:0110183	Charcot-Marie-Tooth disease type 4C		ISO	RGD:1348846	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C | ClinVar Annotator: match by term: SH3TC2-related disorder	PMID:14574644|PMID:16199547|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23281072|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26257771|PMID:26392352|PMID:26467025|PMID:26558264|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27025386|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:28518168|PMID:29184351|PMID:29321516|PMID:29336362|PMID:29590070|PMID:29970176|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31127727|PMID:31130284|PMID:31211173|PMID:31227790|PMID:31346473|PMID:31372974|PMID:31393079|PMID:31589614|PMID:31634715|PMID:31673878|PMID:31827005|PMID:32077159|PMID:32153140|PMID:32376792|PMID:32461654|PMID:32657593|PMID:33643188|PMID:34049139|PMID:34085946|PMID:34193129|PMID:34255403|PMID:36947133|PMID:37091313|PMID:37273706|PMID:37366078|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:0110183	Charcot-Marie-Tooth disease type 4C		ISO	RGD:1348846	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4C | ClinVar Annotator: match by term: SH3TC2-related disorder	PMID:14574644|PMID:16199547|PMID:16924012|PMID:17576681|PMID:18414213|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:21291453|PMID:22462672|PMID:22950825|PMID:23281072|PMID:23806086|PMID:25025039|PMID:25614874|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26558264|PMID:26872463|PMID:27068304|PMID:27582484|PMID:28492532|PMID:29590070|PMID:30001926|PMID:30373780|PMID:31827005|PMID:32376792|PMID:32657593|PMID:34049139|PMID:34085946|PMID:37091313|PMID:38903759|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:0110183	Charcot-Marie-Tooth disease type 4C		ISS	RGD:1550799	D	RGD:13592920	20230718	MouseDO		OMIM:601596	
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1348846	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:29336362|PMID:30001926|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31634715|PMID:31673878|PMID:32376792|PMID:33643188|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1348846	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31634715|PMID:31673878|PMID:32376792|PMID:33643188|PMID:34255403|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1348846	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22938532|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31634715|PMID:31673878|PMID:32376792|PMID:33643188|PMID:34049139|PMID:34255403|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1348846	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia	PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22938532|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:28518168|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31130284|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31634715|PMID:31673878|PMID:32376792|PMID:32461654|PMID:32657593|PMID:33643188|PMID:34049139|PMID:34085946|PMID:34193129|PMID:34255403|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1348846	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22938532|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:28518168|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31130284|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31634715|PMID:31673878|PMID:32376792|PMID:32461654|PMID:32657593|PMID:33643188|PMID:34049139|PMID:34085946|PMID:34193129|PMID:34255403|PMID:36947133|PMID:37091313|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1348846	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22938532|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26257771|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:28518168|PMID:29184351|PMID:29321516|PMID:29336362|PMID:29590070|PMID:29970176|PMID:3000192|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31127727|PMID:31130284|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31393079|PMID:31589614|PMID:31634715|PMID:31673878|PMID:32077159|PMID:32153140|PMID:32376792|PMID:32461654|PMID:32657593|PMID:33643188|PMID:34049139|PMID:34085946|PMID:34193129|PMID:34255403|PMID:36947133|PMID:37091313|PMID:37366078|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1348846	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia	PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22938532|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26257771|PMID:26392352|PMID:26467025|PMID:26558264|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:28518168|PMID:29184351|PMID:29321516|PMID:29336362|PMID:29590070|PMID:29970176|PMID:3000192|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31127727|PMID:31130284|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31393079|PMID:31589614|PMID:31634715|PMID:31673878|PMID:31827005|PMID:32077159|PMID:32153140|PMID:32376792|PMID:32461654|PMID:32657593|PMID:33643188|PMID:34049139|PMID:34085946|PMID:34193129|PMID:34255403|PMID:36947133|PMID:37091313|PMID:37366078|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1348846	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:14574644|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18846676|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20826437|PMID:21291453|PMID:21840889|PMID:22462672|PMID:22950825|PMID:23466821|PMID:23553667|PMID:25025039|PMID:25231362|PMID:25429913|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26558264|PMID:26872463|PMID:27068304|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29336362|PMID:29590070|PMID:31211173|PMID:31372974|PMID:31634715|PMID:31827005|PMID:32376792|PMID:33643188|PMID:34049139|PMID:34193129|PMID:34255403|PMID:36947133|PMID:37091313|PMID:37372933|PMID:38547040|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1348846	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:14574644|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18846676|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20826437|PMID:21291453|PMID:21840889|PMID:22462672|PMID:22950825|PMID:23466821|PMID:23553667|PMID:25025039|PMID:25231362|PMID:25429913|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26558264|PMID:26872463|PMID:27068304|PMID:27582484|PMID:28492532|PMID:29336362|PMID:29590070|PMID:31211173|PMID:31372974|PMID:31634715|PMID:31827005|PMID:32376792|PMID:33643188|PMID:34049139|PMID:34193129|PMID:34255403|PMID:36947133|PMID:37091313|PMID:37372933|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1348846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:20220177|PMID:21291453|PMID:25025039|PMID:25614874|PMID:25741868|PMID:26467025|PMID:26558264|PMID:28492532|PMID:32376792|PMID:37091313
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:11720	distal myopathy		ISO	RGD:1348846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:18414213|PMID:21291453|PMID:22950825|PMID:25741868|PMID:28492532
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:11836	clubfoot		ISO	RGD:1348846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:14574644|PMID:20220177|PMID:20301514|PMID:25741868|PMID:27068304|PMID:28492532
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1348846	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	PMID:16199547|PMID:20220177|PMID:25614874|PMID:25741868|PMID:27068304|PMID:28492532|PMID:30001926|PMID:31827005
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:2477	motor peripheral neuropathy		ISO	RGD:1348846	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:25741868|PMID:28492532
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:4362	cervical cancer		ISO	RGD:1348846	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:37091313
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348846	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348846	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:540	strabismus		ISO	RGD:1348846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32376792|PMID:37091313|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:5419	schizophrenia		ISO	RGD:1348846	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:630	genetic disease		ISO	RGD:1348846	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17576681|PMID:18414213|PMID:20220177|PMID:21291453|PMID:25025039|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26558264|PMID:26872463|PMID:27068304|PMID:28492532|PMID:29590070|PMID:30001926|PMID:31827005|PMID:32376792|PMID:34049139|PMID:37091313|PMID:37372933|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:767	muscular atrophy		ISO	RGD:1348846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32376792|PMID:37091313|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:9001510	Funnel Chest		ISO	RGD:1348846	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:26392352|PMID:26467025|PMID:26872463|PMID:28492532|PMID:29590070|PMID:31827005|PMID:32376792|PMID:37091313
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1348846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32376792|PMID:37091313|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:14574644|PMID:20220177|PMID:20301514|PMID:25741868|PMID:27068304|PMID:28492532
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:9005834	Ependymomas		ISO	RGD:1348846	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:9005946	Mononeuropathy of the Median Nerve, Mild		ISO	RGD:1348846	D	RGD:7240710	20130221	OMIM			
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:9005946	Mononeuropathy of the Median Nerve, Mild		ISO	RGD:1348846	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARPAL TUNNEL SYNDROME, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: SH3TC2-related condition	PMID:14574644|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19086034|PMID:19272779|PMID:20028792|PMID:20220177|PMID:20301514|PMID:21291453|PMID:22950825|PMID:25025039|PMID:25188385|PMID:25614874|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26558264|PMID:26872463|PMID:27068304|PMID:27582484|PMID:28492532|PMID:29590070|PMID:30001926|PMID:30373780|PMID:31827005|PMID:32376792|PMID:34049139|PMID:37091313|PMID:9536098
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1348846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:18414213|PMID:21291453|PMID:22950825|PMID:25741868|PMID:28492532
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1348846	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:26392352|PMID:26467025|PMID:26872463|PMID:28492532|PMID:29590070|PMID:31827005|PMID:32376792|PMID:37091313
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348846	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309038	Sh3tc2	SH3 domain and tetratricopeptide repeats 2	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1348846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:25741868|PMID:28492532
1309039	Ptch2	patched 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:1604843	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309039	Ptch2	patched 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:1604843	D	RGD:7240710	20170830	OMIM			
1309039	Ptch2	patched 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME	PMID:25741868|PMID:28492532
1309039	Ptch2	patched 2	gene	DOID:0070365	nevoid basal cell carcinoma syndrome 1		ISO	RGD:1604843	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Basal cell nevus syndrome 1	PMID:18285427|PMID:25741868|PMID:28492532
1309039	Ptch2	patched 2	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1604843	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:25741868
1309039	Ptch2	patched 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309039	Ptch2	patched 2	gene	DOID:1115	sarcoma		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309039	Ptch2	patched 2	gene	DOID:11830	myopia		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1309039	Ptch2	patched 2	gene	DOID:13501	Moebius syndrome		ISO	RGD:1604843	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	PMID:28492532|PMID:28915250
1309039	Ptch2	patched 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1309039	Ptch2	patched 2	gene	DOID:2120	focal dermal hypoplasia		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GORLIN-GOLTZ SYNDROME	PMID:18285427|PMID:28492532
1309039	Ptch2	patched 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:16199547|PMID:28492532|PMID:40803816
1309039	Ptch2	patched 2	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES	PMID:16199547|PMID:17576681|PMID:18285427|PMID:23951062|PMID:25260786|PMID:25741868|PMID:28492532|PMID:28915250|PMID:32864857|PMID:33077954|PMID:34308104|PMID:35017683|PMID:38360123|PMID:40803816|PMID:9536098
1309039	Ptch2	patched 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1604843	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1309039	Ptch2	patched 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1604843	D	RGD:7240710	20230505	OMIM			
1309039	Ptch2	patched 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1604843	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BASAL CELL CARCINOMA, SOMATIC | ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:31945512|PMID:9536098
1309039	Ptch2	patched 2	gene	DOID:3459	breast carcinoma		ISO	RGD:1604843	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:28492532
1309039	Ptch2	patched 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309039	Ptch2	patched 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309039	Ptch2	patched 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309039	Ptch2	patched 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309039	Ptch2	patched 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604843	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1309039	Ptch2	patched 2	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1604843	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1309040	Nudt8	nudix hydrolase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1319158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309040	Nudt8	nudix hydrolase 8	gene	DOID:1115	sarcoma		ISO	RGD:1319158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309040	Nudt8	nudix hydrolase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309040	Nudt8	nudix hydrolase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309041	Zdhhc3	zDHHC palmitoyltransferase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309041	Zdhhc3	zDHHC palmitoyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309041	Zdhhc3	zDHHC palmitoyltransferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1319160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309041	Zdhhc3	zDHHC palmitoyltransferase 3	gene	DOID:1909	melanoma		ISO	RGD:1319160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309041	Zdhhc3	zDHHC palmitoyltransferase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309041	Zdhhc3	zDHHC palmitoyltransferase 3	gene	DOID:3275	thymoma		ISO	RGD:1319160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309041	Zdhhc3	zDHHC palmitoyltransferase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309041	Zdhhc3	zDHHC palmitoyltransferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319160	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309041	Zdhhc3	zDHHC palmitoyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309041	Zdhhc3	zDHHC palmitoyltransferase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309042	Bnc1	basonuclin zinc finger protein 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1319162	D	RGD:7240710	20200101	OMIM			
1309042	Bnc1	basonuclin zinc finger protein 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1319162	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure 16	PMID:25741868
1309042	Bnc1	basonuclin zinc finger protein 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISS	RGD:1319163	D	RGD:13592920	20250605	MouseDO		OMIM:618723	
1309042	Bnc1	basonuclin zinc finger protein 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1319162	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
1309042	Bnc1	basonuclin zinc finger protein 1	gene	DOID:14450	46 XX gonadal dysgenesis		ISO	RGD:1319162	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: 46 XX gonadal dysgenesis	PMID:25741868
1309042	Bnc1	basonuclin zinc finger protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309042	Bnc1	basonuclin zinc finger protein 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1319162	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1309042	Bnc1	basonuclin zinc finger protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309043	Tmem106a	transmembrane protein 106A	gene	DOID:0080600	COVID-19		ISO	RGD:1603282	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309043	Tmem106a	transmembrane protein 106A	gene	DOID:1909	melanoma		ISO	RGD:1603282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309043	Tmem106a	transmembrane protein 106A	gene	DOID:440	neuromuscular disease		ISO	RGD:1603282	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
1309043	Tmem106a	transmembrane protein 106A	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603282	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532
1309043	Tmem106a	transmembrane protein 106A	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603282	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532|PMID:38922859
1309043	Tmem106a	transmembrane protein 106A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309043	Tmem106a	transmembrane protein 106A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309043	Tmem106a	transmembrane protein 106A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603282	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:0050729	Chanarin-Dorfman syndrome		ISO	RGD:1354502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neutral lipid storage myopathy	PMID:16150821|PMID:16199547|PMID:16644682|PMID:17187067|PMID:17576681|PMID:18952067|PMID:19763152|PMID:20307669|PMID:21170305|PMID:21544567|PMID:22406018|PMID:22832386|PMID:22990388|PMID:23232698|PMID:25287355|PMID:25741868|PMID:26602809|PMID:26922712|PMID:27869069|PMID:28391974|PMID:28492532|PMID:28499397|PMID:30738494|PMID:31525260|PMID:32041611|PMID:35342266|PMID:35460704|PMID:39825153|PMID:9536098
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:0051064	left ventricular failure		ISO	RGD:1354502	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:114	heart disease		ISO	RGD:1354502	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21585347|PMID:23867907
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1354502	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:1354502	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:1324	lung cancer		ISO	RGD:1354502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:3275	thymoma		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:423	myopathy		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:17187067|PMID:21544567|PMID:25741868|PMID:28492532
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:4362	cervical cancer		ISO	RGD:1354502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:6000	congestive heart failure		ISO	RGD:1354502	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:630	genetic disease		ISO	RGD:1354502	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17187067|PMID:21073837|PMID:21544567|PMID:25363365|PMID:25741868|PMID:28492532|PMID:33569515
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:9004438	Neutral Lipid Storage Disease with Myopathy		ISO	RGD:1354502	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:9004438	Neutral Lipid Storage Disease with Myopathy		ISO	RGD:1354502	D	RGD:7240710	20150624	OMIM			
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:9004438	Neutral Lipid Storage Disease with Myopathy		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY | ClinVar Annotator: match by term: Neutral lipid storage disease with myopathy | ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis	PMID:16199547|PMID:16644682|PMID:17187067|PMID:18445597|PMID:21170305|PMID:21544567|PMID:22832386|PMID:22990388|PMID:23449549|PMID:25741868|PMID:28492532|PMID:28499397
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1354502	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309044	Pnpla2	patatin like domain 2, triacylglycerol lipase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1319167	D	RGD:2293530|PMID:14871982	20080603	RGD			
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:1115	sarcoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:11633	thyroid hormone resistance syndrome		ISS	RGD:1319168	D	RGD:13592920	20180518	MouseDO		OMIM:188570 | OMIM:274300	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:1324	lung cancer		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:1459	hypothyroidism		IEP		D	RGD:2306463|PMID:11850121	20090417	RGD		mRNA:altered expression:brain	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1319167	D	RGD:2298984|PMID:14751175	20080807	RGD		mRNA:increased expression:endometrium	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:289	endometriosis		ISO	RGD:1319167	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:3275	thymoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:1319167	D	RGD:2293529|PMID:17902051	20080603	RGD			
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319167	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1319167	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21080969
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319167	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12237244
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1319167	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21080969
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319167	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20332317
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309046	Ncoa1	nuclear receptor coactivator 1	gene	DOID:9970	obesity		ISS	RGD:1319168	D	RGD:13592920	20180518	MouseDO		OMIM:601665	
1309047	Dmrt2	doublesex and mab-3 related transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309047	Dmrt2	doublesex and mab-3 related transcription factor 2	gene	DOID:0061255	spondylocostal dysostosis 7		ISO	RGD:1319169	D	RGD:7240710	20260311	OMIM			
1309047	Dmrt2	doublesex and mab-3 related transcription factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1319169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309047	Dmrt2	doublesex and mab-3 related transcription factor 2	gene	DOID:13938	amenorrhea		ISO	RGD:1319169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:25741868
1309047	Dmrt2	doublesex and mab-3 related transcription factor 2	gene	DOID:14447	gonadal dysgenesis		ISO	RGD:1319169	D	RGD:8554872	20211207	ClinVar		ClinVar Annotator: match by term: Gonadal agenesis	PMID:25741868
1309047	Dmrt2	doublesex and mab-3 related transcription factor 2	gene	DOID:14448	46,XY complete gonadal dysgenesis		ISO	RGD:1319169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY	PMID:25741868
1309047	Dmrt2	doublesex and mab-3 related transcription factor 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1319169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:29681102
1309047	Dmrt2	doublesex and mab-3 related transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319169	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309047	Dmrt2	doublesex and mab-3 related transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309047	Dmrt2	doublesex and mab-3 related transcription factor 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309047	Dmrt2	doublesex and mab-3 related transcription factor 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1319169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1319171	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:0111593	distal arthrogryposis type 10		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plantar flexion contracture	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:10534	stomach cancer		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:10965	spastic diplegia		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:1115	sarcoma		ISO	RGD:1319171	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:11782	astigmatism		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:1909	melanoma		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:1969	cerebral palsy		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:2843	long QT syndrome		ISO	RGD:1319171	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:3275	thymoma		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:4667	kyphosis		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:540	strabismus		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:630	genetic disease		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319171	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:6543	acne		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9001716	Hip Contracture		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip contracture	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9001722	Dysarthria		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9004866	Ataxia		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Truncal ataxia	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9007573	Flatfoot		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin resistance	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9007986	NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION		ISO	RGD:1319171	D	RGD:7240710	20231115	OMIM			
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9007986	NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION		ISO	RGD:1319171	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION | ClinVar Annotator: match by term: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction	PMID:25741868
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9008214	Genu Valgum		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:36965478
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309048	Snapc4	small nuclear RNA activating complex, polypeptide 4	gene	DOID:9970	obesity		ISO	RGD:1319171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:36965478
1309050	Frmd4a	FERM domain containing 4A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309050	Frmd4a	FERM domain containing 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309050	Frmd4a	FERM domain containing 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309050	Frmd4a	FERM domain containing 4A	gene	DOID:10907	microcephaly		ISO	RGD:1350302	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1309050	Frmd4a	FERM domain containing 4A	gene	DOID:1115	sarcoma		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309050	Frmd4a	FERM domain containing 4A	gene	DOID:303	substance-related disorder		ISO	RGD:1350302	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1309050	Frmd4a	FERM domain containing 4A	gene	DOID:4362	cervical cancer		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309050	Frmd4a	FERM domain containing 4A	gene	DOID:5041	esophageal cancer		ISO	RGD:1350302	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309050	Frmd4a	FERM domain containing 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309050	Frmd4a	FERM domain containing 4A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309050	Frmd4a	FERM domain containing 4A	gene	DOID:9006921	CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA		ISO	RGD:1350302	D	RGD:7240710	20190315	OMIM			
1309050	Frmd4a	FERM domain containing 4A	gene	DOID:9006921	CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FRMD4A-related condition	PMID:25741868|PMID:28492532
1309050	Frmd4a	FERM domain containing 4A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309051	Ppp1r36	protein phosphatase 1, regulatory subunit 36	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309051	Ppp1r36	protein phosphatase 1, regulatory subunit 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309051	Ppp1r36	protein phosphatase 1, regulatory subunit 36	gene	DOID:10534	stomach cancer		ISO	RGD:1319175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309051	Ppp1r36	protein phosphatase 1, regulatory subunit 36	gene	DOID:1115	sarcoma		ISO	RGD:1319175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309051	Ppp1r36	protein phosphatase 1, regulatory subunit 36	gene	DOID:12849	autistic disorder		ISO	RGD:1319175	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1309051	Ppp1r36	protein phosphatase 1, regulatory subunit 36	gene	DOID:5041	esophageal cancer		ISO	RGD:1319175	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309051	Ppp1r36	protein phosphatase 1, regulatory subunit 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309051	Ppp1r36	protein phosphatase 1, regulatory subunit 36	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309052	Dpf3	double PHD fingers 3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1319176	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1309052	Dpf3	double PHD fingers 3	gene	DOID:1909	melanoma		ISO	RGD:1319176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309052	Dpf3	double PHD fingers 3	gene	DOID:3275	thymoma		ISO	RGD:1319176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309052	Dpf3	double PHD fingers 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1319178	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:31123343
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:0050902	medulloblastoma		ISO	RGD:1319178	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: therapeutic	PMID:31694585
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:0060250	idiopathic scoliosis		ISS	RGD:1319179	D	RGD:13592920	20220519	MouseDO			
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:1324	lung cancer		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:1909	melanoma		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:2696	Leydig cell tumor		ISO	RGD:1319178	D	RGD:2299953|PMID:17437848	20080821	RGD		protein:altered localization	
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:2841	asthma		IEP		D	RGD:9491823|PMID:20423833	20140912	RGD		mRNA:increased expression:lung, spleen	
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:4440	seminoma		ISO	RGD:1319178	D	RGD:2299953|PMID:17437848	20080821	RGD		protein:altered localization	
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1319179	D	RGD:11561325|PMID:27506785	20250326	RGD		mRNA:decreased expression:nucleus accumbens (mouse)	
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1319178	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: therapeutic	PMID:30957988
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309053	Prmt5	protein arginine methyltransferase 5	gene	DOID:9538	multiple myeloma		ISO	RGD:1319178	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:29158558
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:1115	sarcoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:1324	lung cancer		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:1909	melanoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1602223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309054	Tcf25	TCF25 ribosome quality control complex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309055	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309055	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:1115	sarcoma		ISO	RGD:1319181	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309055	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:1324	lung cancer		ISO	RGD:1319181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309055	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309055	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:3275	thymoma		ISO	RGD:1319181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309055	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:4362	cervical cancer		ISO	RGD:1319181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309055	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1319181	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309055	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309055	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319181	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309055	Ngef	neuronal guanine nucleotide exchange factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309057	Tbx4	T-box transcription factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309057	Tbx4	T-box transcription factor 4	gene	DOID:0111382	ischiocoxopodopatellar syndrome		ISO	RGD:1319185	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309057	Tbx4	T-box transcription factor 4	gene	DOID:0111382	ischiocoxopodopatellar syndrome		ISO	RGD:1319185	D	RGD:7240710	20130221	OMIM			
1309057	Tbx4	T-box transcription factor 4	gene	DOID:0111382	ischiocoxopodopatellar syndrome		ISO	RGD:1319185	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Coxopodopatellar syndrome | ClinVar Annotator: match by term: ISCHIOCOXOPODOPATELLAR SYNDROME | ClinVar Annotator: match by term: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION | ClinVar Annotator: match by term: Small patella syndrome | ClinVar Annotator: match by term: TBX4-related condition	PMID:15106123|PMID:17576681|PMID:23592887|PMID:25741868|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:31151956|PMID:31727138|PMID:32006592|PMID:32079640|PMID:32348326|PMID:33971972|PMID:34557690|PMID:35852389|PMID:36085161|PMID:36367783|PMID:36990084|PMID:37422716|PMID:9536098
1309057	Tbx4	T-box transcription factor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309057	Tbx4	T-box transcription factor 4	gene	DOID:11111	hydronephrosis		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
1309057	Tbx4	T-box transcription factor 4	gene	DOID:381	arthropathy	susceptibility	ISO	RGD:1319185	D	RGD:1601422|PMID:15106123	20070419	RGD		Small Patella Syndrome, OMIM:147891;DNA:missense mutation, nonsense mutation:exon, exon:p.G248V, p.Q62X	
1309057	Tbx4	T-box transcription factor 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309057	Tbx4	T-box transcription factor 4	gene	DOID:630	genetic disease		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31151956|PMID:32348326|PMID:36990084
1309057	Tbx4	T-box transcription factor 4	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary pulmonary hypoplasia | ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25741868
1309057	Tbx4	T-box transcription factor 4	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1319185	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease | ClinVar Annotator: match by term: pulmonary arterial hypertension	PMID:15106123|PMID:17576681|PMID:23592887|PMID:25741868|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31727138|PMID:32006592|PMID:32348326|PMID:32581362|PMID:32860008|PMID:33066286|PMID:33971972|PMID:34557690|PMID:36367783|PMID:37422716|PMID:9536098
1309057	Tbx4	T-box transcription factor 4	gene	DOID:9004999	APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aplasia/hypoplasia involving bones of the lower limbs	PMID:25741868
1309057	Tbx4	T-box transcription factor 4	gene	DOID:9005155	Amelia, Autosomal Recessive		ISO	RGD:1319185	D	RGD:7240710	20200226	OMIM			
1309057	Tbx4	T-box transcription factor 4	gene	DOID:9005155	Amelia, Autosomal Recessive		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMELIA, POSTERIOR, WITH PELVIC AND PULMONARY HYPOPLASIA SYNDROME | ClinVar Annotator: match by term: Autosomal recessive amelia	PMID:25741868|PMID:31761294
1309057	Tbx4	T-box transcription factor 4	gene	DOID:9009117	primary pulmonary hypertension 1		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1	PMID:15106123|PMID:17576681|PMID:25741868|PMID:27587546|PMID:28492532|PMID:29631995|PMID:30578397|PMID:31151956|PMID:31727138|PMID:31761294|PMID:31965066|PMID:32079640|PMID:32348326|PMID:33066286|PMID:33971972|PMID:34557690|PMID:9536098
1309057	Tbx4	T-box transcription factor 4	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:25741868
1309058	Fam161b	FAM161 centrosomal protein B	gene	DOID:3275	thymoma		ISO	RGD:1319187	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309058	Fam161b	FAM161 centrosomal protein B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309059	Ppp4r3a	protein phosphatase 4, regulatory subunit 3A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309059	Ppp4r3a	protein phosphatase 4, regulatory subunit 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309059	Ppp4r3a	protein phosphatase 4, regulatory subunit 3A	gene	DOID:10534	stomach cancer		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309059	Ppp4r3a	protein phosphatase 4, regulatory subunit 3A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309059	Ppp4r3a	protein phosphatase 4, regulatory subunit 3A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309059	Ppp4r3a	protein phosphatase 4, regulatory subunit 3A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309059	Ppp4r3a	protein phosphatase 4, regulatory subunit 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309059	Ppp4r3a	protein phosphatase 4, regulatory subunit 3A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309059	Ppp4r3a	protein phosphatase 4, regulatory subunit 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309059	Ppp4r3a	protein phosphatase 4, regulatory subunit 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309060	Irx1	iroquois homeobox 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309060	Irx1	iroquois homeobox 1	gene	DOID:1324	lung cancer		ISO	RGD:1349465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309060	Irx1	iroquois homeobox 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1349465	D	RGD:329950497|PMID:28358424	20230705	RGD		DNA:missense mutations:CDS:p.Q240E, p.S298N, p.A381E ( , , rs530506520) (human)	
1309060	Irx1	iroquois homeobox 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1349465	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1309060	Irx1	iroquois homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309060	Irx1	iroquois homeobox 1	gene	DOID:6000	congestive heart failure	treatment	IDA		D	RGD:329950496|PMID:31640472	20230705	RGD			
1309060	Irx1	iroquois homeobox 1	gene	DOID:850	lung disease		ISO	RGD:1349465	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21238641
1309060	Irx1	iroquois homeobox 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:0050855	renal fibrosis		IMP		D	RGD:7244136|PMID:15647835	20130522	RGD		associated with Renal Insufficiency, Chronic	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:0080162	lupus nephritis	disease_progression	ISO	RGD:1319195	D	RGD:7244140|PMID:12874250	20130522	RGD			
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1319195	D	RGD:7243974|PMID:22025716	20130521	RGD			
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1319194	D	RGD:2298559|PMID:17705178	20080711	RGD			
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:10286	prostate carcinoma		ISO	RGD:1319194	D	RGD:2298560|PMID:11912448	20080711	RGD			
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:10966	lipoid nephrosis		ISO	RGD:1319194	D	RGD:7244144|PMID:19011907	20130522	RGD		DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:10966	lipoid nephrosis	no_association	ISO	RGD:1319194	D	RGD:7244146|PMID:15687724	20130522	RGD		DNA:polymorphism:3' utr:2964G>A (human)	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:10966	lipoid nephrosis	severity	ISO	RGD:1319194	D	RGD:7244138|PMID:12900808	20130522	RGD		DNA:polymorphism:3' utr:g.2964G>A (human)	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:1115	sarcoma		ISO	RGD:1319194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:12361	Graves' disease		ISO	RGD:1319195	D	RGD:7244137|PMID:15117875	20130522	RGD			
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:13139	crescentic glomerulonephritis		ISO	RGD:1319195	D	RGD:7243976|PMID:21985369	20130521	RGD			
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:1324	lung cancer		ISO	RGD:1319194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:1394	urinary schistosomiasis	severity	ISO	RGD:1319194	D	RGD:7243977|PMID:18273035	20130521	RGD		DNA:SNP:enhancer: (rs324013)	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1319194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:16213149|PMID:19423726|PMID:25428220|PMID:28302137|PMID:29650799|PMID:31697821|PMID:32187361|PMID:34204385|PMID:35101336|PMID:35795062
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:1996	rectum adenocarcinoma		ISO	RGD:1319194	D	RGD:153323313|PMID:22121102	20220812	RGD		DNA:SNP:intron: (rs3024979) (human)	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319194	D	RGD:153323313|PMID:22121102	20220812	RGD		DNA:SNP:3' utr: (rs324015) (human)	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:2841	asthma		IEP		D	RGD:7244151|PMID:19087723	20130522	RGD			
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:2841	asthma	treatment	IDA		D	RGD:7244153|PMID:16083555	20130522	RGD			
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:3310	atopic dermatitis		ISO	RGD:1319194	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:15306842
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:3717	gastric adenocarcinoma	exacerbates	ISO	RGD:1319194	D	RGD:153298934|PMID:33042401	20220729	RGD		mRNA:increased expression:stomach (human)	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1319194	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: therapeutic	PMID:26699812
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:417	autoimmune disease		ISO	RGD:1319195	D	RGD:7243973|PMID:22867713	20130521	RGD			
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:4362	cervical cancer		ISO	RGD:1319194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1319194	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:630	genetic disease		ISO	RGD:1319194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:820	myocarditis		IEP		D	RGD:7244150|PMID:22134058	20130522	RGD		mRNA:increased expression:left heart ventricle	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1319194	D	RGD:7243978|PMID:16399078	20130521	RGD		protein:increased expression:kidney, epithelial cell	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:9000197	Edema		ISO	RGD:1319194	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:15306842
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:9000784	Fibrosis		ISO	RGD:1319195	D	RGD:7829775|PMID:10486156	20140124	RGD			
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:9002958	Solitary Fibrous Tumors		ISO	RGD:1319194	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23313952|PMID:23313954
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:9004009	Reperfusion Injury		IEP		D	RGD:2303397|PMID:17880360	20090211	RGD		mRNA:increased expression:hippocampus	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:9004484	Sepsis	severity	ISO	RGD:1319195	D	RGD:7207876|PMID:11257135	20130522	RGD			
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1319195	D	RGD:2298563|PMID:11086031	20080711	RGD			
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:1319194	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21765211
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:9006223	Kidney Reperfusion Injury	severity	ISO	RGD:1319195	D	RGD:7244143|PMID:12709397	20130522	RGD			
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:9006485	Hyper-IgE Recurrent Infection Syndrome 6		ISO	RGD:1319194	D	RGD:7240710	20231011	OMIM			
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:9006485	Hyper-IgE Recurrent Infection Syndrome 6		ISO	RGD:1319194	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	PMID:16213149|PMID:25428220|PMID:25741868|PMID:35101336|PMID:35795062|PMID:36884218
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309063	Stat6	signal transducer and activator of transcription 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:10283	prostate cancer		ISO	RGD:1601856	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:10283	prostate cancer		ISO	RGD:1601856	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:10534	stomach cancer		ISO	RGD:1601856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:1115	sarcoma		ISO	RGD:1601856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:1324	lung cancer		ISO	RGD:1601856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:1909	melanoma		ISO	RGD:1601856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:3275	thymoma		ISO	RGD:1601856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:4362	cervical cancer		ISO	RGD:1601856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1601856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309065	Efcab6	EF-hand calcium binding domain 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1601856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309066	Adam24	ADAM metallopeptidase domain 24	gene	DOID:10534	stomach cancer		ISO	RGD:1345378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309066	Adam24	ADAM metallopeptidase domain 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1345378	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309067	Eme1	essential meiotic structure-specific endonuclease 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319200	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309067	Eme1	essential meiotic structure-specific endonuclease 1	gene	DOID:1115	sarcoma		ISO	RGD:1319200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309067	Eme1	essential meiotic structure-specific endonuclease 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309067	Eme1	essential meiotic structure-specific endonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309067	Eme1	essential meiotic structure-specific endonuclease 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309067	Eme1	essential meiotic structure-specific endonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309068	Adprs	ADP-ribosylserine hydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309068	Adprs	ADP-ribosylserine hydrolase	gene	DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures		ISO	RGD:1319201	D	RGD:7240710	20190315	OMIM			
1309068	Adprs	ADP-ribosylserine hydrolase	gene	DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures		ISO	RGD:1319201	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ADPRHL2-Related Disorder | ClinVar Annotator: match by term: ADPRS-related condition | ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	PMID:25741868|PMID:30100084|PMID:30401461|PMID:34479984|PMID:3566465|PMID:35664652|PMID:37712079|PMID:38915701
1309068	Adprs	ADP-ribosylserine hydrolase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1319201	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
1309068	Adprs	ADP-ribosylserine hydrolase	gene	DOID:1115	sarcoma		ISO	RGD:1319201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309068	Adprs	ADP-ribosylserine hydrolase	gene	DOID:5041	esophageal cancer		ISO	RGD:1319201	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309068	Adprs	ADP-ribosylserine hydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309068	Adprs	ADP-ribosylserine hydrolase	gene	DOID:630	genetic disease		ISO	RGD:1319201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:30401461
1309068	Adprs	ADP-ribosylserine hydrolase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309068	Adprs	ADP-ribosylserine hydrolase	gene	DOID:9007650	Unconsciousness		ISO	RGD:1319201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Loss of consciousness	
1309068	Adprs	ADP-ribosylserine hydrolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:0110238	cataract 18		ISO	RGD:1319203	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:0110238	cataract 18		ISO	RGD:1319203	D	RGD:7240710	20130221	OMIM			
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:0110238	cataract 18		ISO	RGD:1319203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CATARACT 18, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cataract 18 | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 2 | ClinVar Annotator: match by term: FYCO1-related condition	PMID:16199547|PMID:21636066|PMID:25741868|PMID:27878435|PMID:28418495|PMID:28492532|PMID:32355443|PMID:33767456
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:1909	melanoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:3275	thymoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319203	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:630	genetic disease		ISO	RGD:1319203	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1319203	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:21636066|PMID:25741868|PMID:28492532|PMID:35754085
1309069	Fyco1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309070	Ctsa	cathepsin A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309070	Ctsa	cathepsin A	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1309070	Ctsa	cathepsin A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309070	Ctsa	cathepsin A	gene	DOID:0061236	brain small vessel disease 6 with leukoencephalopathy		ISO	RGD:1319205	D	RGD:7240710	20251105	OMIM			
1309070	Ctsa	cathepsin A	gene	DOID:0061236	brain small vessel disease 6 with leukoencephalopathy		ISO	RGD:1319205	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 6 WITH LEUKOENCEPHALOPATHY | ClinVar Annotator: match by term: CTSA-related condition	PMID:25741868|PMID:27664989|PMID:28334938|PMID:28492532|PMID:28702507|PMID:35904593
1309070	Ctsa	cathepsin A	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1	PMID:25741868
1309070	Ctsa	cathepsin A	gene	DOID:0070309	absence epilepsy		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
1309070	Ctsa	cathepsin A	gene	DOID:0080540	galactosialidosis		ISO	RGD:1319205	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309070	Ctsa	cathepsin A	gene	DOID:0080540	galactosialidosis		ISO	RGD:1319205	D	RGD:7240710	20130221	OMIM			
1309070	Ctsa	cathepsin A	gene	DOID:0080540	galactosialidosis		ISO	RGD:1319205	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase | ClinVar Annotator: match by term: GALACTOSIALIDOSIS | ClinVar Annotator: match by term: GALACTOSIALIDOSIS, ADULT | ClinVar Annotator: match by term: GALACTOSIALIDOSIS, EARLY INFANTILE | ClinVar Annotator: match by term: GALACTOSIALIDOSIS, LATE INFANTILE | ClinVar Annotator: match by term: Neuraminidase/beta-galactosidase expression | ClinVar Annotator: match by term: PPCA DEFICIENCY	PMID:10571006|PMID:12649068|PMID:15110321|PMID:16199547|PMID:16538002|PMID:1756715|PMID:17576681|PMID:18396002|PMID:18937050|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23915561|PMID:24767253|PMID:24779613|PMID:25075748|PMID:25741868|PMID:26259553|PMID:27848944|PMID:28454995|PMID:28492532|PMID:28603679|PMID:29333829|PMID:29876240|PMID:31044084|PMID:31177426|PMID:32036093|PMID:32774297|PMID:36341164|PMID:8514852|PMID:8968752|PMID:9435242|PMID:9536098|PMID:9603439|PMID:9636645
1309070	Ctsa	cathepsin A	gene	DOID:10376	amblyopia		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
1309070	Ctsa	cathepsin A	gene	DOID:10534	stomach cancer		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309070	Ctsa	cathepsin A	gene	DOID:1324	lung cancer		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309070	Ctsa	cathepsin A	gene	DOID:1826	epilepsy		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1309070	Ctsa	cathepsin A	gene	DOID:1827	generalized epilepsy		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
1309070	Ctsa	cathepsin A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309070	Ctsa	cathepsin A	gene	DOID:3211	lysosomal storage disease		ISO	RGD:1319205	D	RGD:1599169|PMID:8514852	20070118	RGD			
1309070	Ctsa	cathepsin A	gene	DOID:3275	thymoma		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309070	Ctsa	cathepsin A	gene	DOID:4667	kyphosis		ISO	RGD:1319205	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:10333491|PMID:10944848|PMID:15110321|PMID:22386972|PMID:23915561|PMID:24769197|PMID:25741868|PMID:28492532|PMID:8514852|PMID:8968752
1309070	Ctsa	cathepsin A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309070	Ctsa	cathepsin A	gene	DOID:630	genetic disease		ISO	RGD:1319205	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309070	Ctsa	cathepsin A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309070	Ctsa	cathepsin A	gene	DOID:8488	polyhydramnios		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:15110321|PMID:23915561|PMID:25741868|PMID:28492532
1309070	Ctsa	cathepsin A	gene	DOID:8986	narcolepsy		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Narcolepsy	PMID:25741868
1309070	Ctsa	cathepsin A	gene	DOID:9000343	Vision Disorders		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
1309070	Ctsa	cathepsin A	gene	DOID:9000495	Tremor		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb tremor	PMID:25741868
1309070	Ctsa	cathepsin A	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
1309070	Ctsa	cathepsin A	gene	DOID:9002695	Cataplexy		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataplexy	PMID:25741868
1309070	Ctsa	cathepsin A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:27848944|PMID:28454995
1309070	Ctsa	cathepsin A	gene	DOID:9007722	Myoclonus		ISO	RGD:1319205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
1309070	Ctsa	cathepsin A	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1319205	D	RGD:8554872	20150908	ClinVar		ClinVar Annotator: match by term: Non-Immune hydrops fetalis	PMID:26036949
1309072	Sox8	SRY-box transcription factor 8	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1319208	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
1309072	Sox8	SRY-box transcription factor 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1319208	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309072	Sox8	SRY-box transcription factor 8	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1319208	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
1309072	Sox8	SRY-box transcription factor 8	gene	DOID:9003766	46, XY Disorders of Sex Development		ISO	RGD:1319208	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 46 XY differences of sex development	
1309073	Fbxo48	F-box protein 48	gene	DOID:5041	esophageal cancer		ISO	RGD:1605751	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309073	Fbxo48	F-box protein 48	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309074	C8g	complement C8 gamma chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309074	C8g	complement C8 gamma chain	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1319211	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1309074	C8g	complement C8 gamma chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309074	C8g	complement C8 gamma chain	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309074	C8g	complement C8 gamma chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309074	C8g	complement C8 gamma chain	gene	DOID:6039	uveal melanoma		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309074	C8g	complement C8 gamma chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309074	C8g	complement C8 gamma chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319211	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309074	C8g	complement C8 gamma chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309074	C8g	complement C8 gamma chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309074	C8g	complement C8 gamma chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309075	Slc9c1	solute carrier family 9 member C1	gene	DOID:10534	stomach cancer		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309075	Slc9c1	solute carrier family 9 member C1	gene	DOID:1115	sarcoma		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309075	Slc9c1	solute carrier family 9 member C1	gene	DOID:1324	lung cancer		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309075	Slc9c1	solute carrier family 9 member C1	gene	DOID:4362	cervical cancer		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309075	Slc9c1	solute carrier family 9 member C1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309075	Slc9c1	solute carrier family 9 member C1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351436	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309075	Slc9c1	solute carrier family 9 member C1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309075	Slc9c1	solute carrier family 9 member C1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309076	Slc35e2b	solute carrier family 35, member E2B	gene	DOID:5041	esophageal cancer		ISO	RGD:4109106	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309076	Slc35e2b	solute carrier family 35, member E2B	gene	DOID:9002189	High Myopia		ISO	RGD:4109106	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1309077	Mrm3	mitochondrial rRNA methyltransferase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309077	Mrm3	mitochondrial rRNA methyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309079	Dipk2a	divergent protein kinase domain 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309079	Dipk2a	divergent protein kinase domain 2A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1603352	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21283809
1309079	Dipk2a	divergent protein kinase domain 2A	gene	DOID:1115	sarcoma		ISO	RGD:1603352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309079	Dipk2a	divergent protein kinase domain 2A	gene	DOID:12849	autistic disorder		ISO	RGD:1603352	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18621663
1309079	Dipk2a	divergent protein kinase domain 2A	gene	DOID:2394	ovarian cancer		ISO	RGD:1603352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309079	Dipk2a	divergent protein kinase domain 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309079	Dipk2a	divergent protein kinase domain 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309079	Dipk2a	divergent protein kinase domain 2A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603352	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309079	Dipk2a	divergent protein kinase domain 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309080	Gadd45b	growth arrest and DNA-damage-inducible, beta	gene	DOID:0080600	COVID-19		ISO	RGD:1319220	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1309080	Gadd45b	growth arrest and DNA-damage-inducible, beta	gene	DOID:0080600	COVID-19		ISO	RGD:1319220	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
1309080	Gadd45b	growth arrest and DNA-damage-inducible, beta	gene	DOID:37	skin disease		ISO	RGD:1319220	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1309080	Gadd45b	growth arrest and DNA-damage-inducible, beta	gene	DOID:4362	cervical cancer		ISO	RGD:1319220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309080	Gadd45b	growth arrest and DNA-damage-inducible, beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309080	Gadd45b	growth arrest and DNA-damage-inducible, beta	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1319220	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:0060058	lymphoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:1319222	D	RGD:13831344|PMID:30541770	20190102	RGD		DNA:SNPs:cds:multiple(human)	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:3070	high grade glioma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1319222	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1319222	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309081	Col22a1	collagen type XXII alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309083	Clspn	claspin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309083	Clspn	claspin	gene	DOID:0080600	COVID-19		ISO	RGD:1319224	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309083	Clspn	claspin	gene	DOID:10534	stomach cancer		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309083	Clspn	claspin	gene	DOID:1324	lung cancer		ISO	RGD:1319224	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309083	Clspn	claspin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309083	Clspn	claspin	gene	DOID:2661	myoepithelioma		ISO	RGD:1319224	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1309083	Clspn	claspin	gene	DOID:3070	high grade glioma		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309083	Clspn	claspin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309083	Clspn	claspin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309083	Clspn	claspin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309083	Clspn	claspin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309083	Clspn	claspin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309083	Clspn	claspin	gene	DOID:9256	colorectal cancer		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1603903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:28492532
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:0080761	Fanconi renotubular syndrome 5		ISO	RGD:1603903	D	RGD:7240710	20200701	OMIM			
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:0080761	Fanconi renotubular syndrome 5		ISO	RGD:1603903	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Fanconi renotubular syndrome 5 | ClinVar Annotator: match by term: NDUFAF6-related condition	PMID:25741868|PMID:27466185|PMID:28492532|PMID:28639102|PMID:30642748|PMID:37377599
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1603903	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:26741492|PMID:28492532|PMID:30642748|PMID:31967322|PMID:32348839
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1603903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:0112078	nuclear type mitochondrial complex I deficiency 17		ISO	RGD:1603903	D	RGD:7240710	20190315	OMIM			
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:0112078	nuclear type mitochondrial complex I deficiency 17		ISO	RGD:1603903	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 17	PMID:25741868|PMID:26741492|PMID:28492532|PMID:28639102|PMID:29531337|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:34276053|PMID:37377599|PMID:37644014|PMID:38703036
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1603903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment	PMID:25741868|PMID:28492532|PMID:28639102|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:37644014
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1603903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:1115	sarcoma		ISO	RGD:1603903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:11830	myopia		ISO	RGD:1603903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:3652	Leigh disease		ISO	RGD:1603903	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease	PMID:25741868|PMID:26741492|PMID:28492532|PMID:28639102|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:37644014
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:4362	cervical cancer		ISO	RGD:1603903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:630	genetic disease		ISO	RGD:1603903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28639102|PMID:30642748
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1603903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532|PMID:38720117
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:25741868|PMID:28492532|PMID:28639102|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:37644014
1309085	Ndufaf6	NADH:ubiquinone oxidoreductase complex assembly factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309086	Cd19	CD19 molecule	gene	DOID:0081146	common variable immunodeficiency 3		ISO	RGD:1319228	D	RGD:7240710	20190710	OMIM			
1309086	Cd19	CD19 molecule	gene	DOID:0081146	common variable immunodeficiency 3		ISO	RGD:1319228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CD19-related condition | ClinVar Annotator: match by term: Common variable immunodeficiency 3 | ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 3 | ClinVar Annotator: match by term: Immunodeficiency, common variable, 3	PMID:24033266|PMID:25741868|PMID:28492532|PMID:34490048
1309086	Cd19	CD19 molecule	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1319228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss	PMID:25741868|PMID:28492532
1309086	Cd19	CD19 molecule	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1319228	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16672701
1309086	Cd19	CD19 molecule	gene	DOID:14176	selective IgG deficiency disease		ISO	RGD:1319228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IgG deficiency	PMID:25741868
1309086	Cd19	CD19 molecule	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1319228	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16672701
1309086	Cd19	CD19 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309086	Cd19	CD19 molecule	gene	DOID:630	genetic disease		ISO	RGD:1319228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309086	Cd19	CD19 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309087	Lrrc32	leucine rich repeat containing 32	gene	DOID:2841	asthma		ISO	RGD:1319230	D	RGD:645135175|PMID:37614425	20260424	RGD		mRNA:increased expression:lung	
1309087	Lrrc32	leucine rich repeat containing 32	gene	DOID:3073	brain glioblastoma multiforme	treatment	ISO	RGD:1319230	D	RGD:645135176|PMID:40873341	20260424	RGD			
1309087	Lrrc32	leucine rich repeat containing 32	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1319230	D	RGD:645135177|PMID:35780120	20260424	RGD		protein:decreased expression:respiratory system fluid/secretion, T cell	
1309087	Lrrc32	leucine rich repeat containing 32	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309087	Lrrc32	leucine rich repeat containing 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309087	Lrrc32	leucine rich repeat containing 32	gene	DOID:9000539	Cleft Palate, Proliferative Retinopathy, and Developmental Delay		ISO	RGD:1319230	D	RGD:7240710	20201111	OMIM			
1309087	Lrrc32	leucine rich repeat containing 32	gene	DOID:9000539	Cleft Palate, Proliferative Retinopathy, and Developmental Delay		ISO	RGD:1319230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay	PMID:25741868
1309087	Lrrc32	leucine rich repeat containing 32	gene	DOID:9008331	Tendon Injuries	treatment	IMP		D	RGD:730454548|PMID:35934780	20260521	RGD			
1309087	Lrrc32	leucine rich repeat containing 32	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309088	Cbfa2t2	CBFA2/RUNX1 partner transcriptional co-repressor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309088	Cbfa2t2	CBFA2/RUNX1 partner transcriptional co-repressor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309088	Cbfa2t2	CBFA2/RUNX1 partner transcriptional co-repressor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309088	Cbfa2t2	CBFA2/RUNX1 partner transcriptional co-repressor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309088	Cbfa2t2	CBFA2/RUNX1 partner transcriptional co-repressor 2	gene	DOID:1909	melanoma		ISO	RGD:1319231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309088	Cbfa2t2	CBFA2/RUNX1 partner transcriptional co-repressor 2	gene	DOID:3275	thymoma		ISO	RGD:1319231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309088	Cbfa2t2	CBFA2/RUNX1 partner transcriptional co-repressor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309088	Cbfa2t2	CBFA2/RUNX1 partner transcriptional co-repressor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309088	Cbfa2t2	CBFA2/RUNX1 partner transcriptional co-repressor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309088	Cbfa2t2	CBFA2/RUNX1 partner transcriptional co-repressor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309088	Cbfa2t2	CBFA2/RUNX1 partner transcriptional co-repressor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309088	Cbfa2t2	CBFA2/RUNX1 partner transcriptional co-repressor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:1115	sarcoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:1324	lung cancer		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:1909	melanoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:3275	thymoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605064	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605064	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1605064	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14499481
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309089	Lsg1	large 60S subunit nuclear export GTPase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309090	Mrpl27	mitochondrial ribosomal protein L27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309090	Mrpl27	mitochondrial ribosomal protein L27	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309090	Mrpl27	mitochondrial ribosomal protein L27	gene	DOID:5041	esophageal cancer		ISO	RGD:1319233	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309090	Mrpl27	mitochondrial ribosomal protein L27	gene	DOID:6039	uveal melanoma		ISO	RGD:1319233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309090	Mrpl27	mitochondrial ribosomal protein L27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309090	Mrpl27	mitochondrial ribosomal protein L27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309091	C1r	complement C1r	gene	DOID:0080986	Ehlers-Danlos syndrome periodontal type 1		ISO	RGD:1319235	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309091	C1r	complement C1r	gene	DOID:0080986	Ehlers-Danlos syndrome periodontal type 1		ISO	RGD:1319235	D	RGD:7240710	20190315	OMIM			
1309091	C1r	complement C1r	gene	DOID:0080986	Ehlers-Danlos syndrome periodontal type 1		ISO	RGD:1319235	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: C1R-related condition | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome periodontal type 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1	PMID:25741868|PMID:27745832|PMID:31749804|PMID:33005042|PMID:34324282|PMID:37323685|PMID:37813462|PMID:38096369
1309091	C1r	complement C1r	gene	DOID:0080987	Ehlers-Danlos syndrome periodontal type 2		ISO	RGD:1319235	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2	PMID:25741868|PMID:27745832
1309091	C1r	complement C1r	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1319235	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	
1309091	C1r	complement C1r	gene	DOID:289	endometriosis		ISO	RGD:1319235	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1309091	C1r	complement C1r	gene	DOID:8725	vascular dementia		ISO	RGD:1319235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
1309091	C1r	complement C1r	gene	DOID:9003565	Paratuberculosis		ISO	RGD:1319235	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22633222
1309091	C1r	complement C1r	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1319235	D	RGD:1600551|PMID:17244723	20070313	RGD		protein:increased expression:adipocyte	
1309092	Slc36a3	solute carrier family 36, member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309092	Slc36a3	solute carrier family 36, member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319236	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309092	Slc36a3	solute carrier family 36, member 3	gene	DOID:1909	melanoma		ISO	RGD:1319236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309092	Slc36a3	solute carrier family 36, member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319236	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:0060264	pontocerebellar hypoplasia		ISO	RGD:1319240	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28092684
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:0060276	pontocerebellar hypoplasia type 7		ISO	RGD:1319240	D	RGD:7240710	20190315	OMIM			
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:0060276	pontocerebellar hypoplasia type 7		ISO	RGD:1319240	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 | ClinVar Annotator: match by term: Pontocerebellar Hypoplasia Type 7 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 7 | ClinVar Annotator: match by term: TOE1-related condition	PMID:17576681|PMID:25741868|PMID:28092684|PMID:28492532|PMID:9536098
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:1324	lung cancer		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:1909	melanoma		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:4362	cervical cancer		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:480	movement disease		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:5041	esophageal cancer		ISO	RGD:1319240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:630	genetic disease		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319240	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12056405|PMID:14618256|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319240	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12056405|PMID:14618256|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532|PMID:28644590|PMID:36988593|PMID:9536098
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319240	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12056405|PMID:14618256|PMID:15180946|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532|PMID:28644590|PMID:30716719|PMID:32821650|PMID:35988656|PMID:36988593|PMID:9536098
1309094	Toe1	target of EGR1, exonuclease	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309095	Tex30	testis expressed 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309095	Tex30	testis expressed 30	gene	DOID:3275	thymoma		ISO	RGD:1605014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309095	Tex30	testis expressed 30	gene	DOID:4362	cervical cancer		ISO	RGD:1605014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309095	Tex30	testis expressed 30	gene	DOID:5041	esophageal cancer		ISO	RGD:1605014	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309095	Tex30	testis expressed 30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309095	Tex30	testis expressed 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309095	Tex30	testis expressed 30	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309096	Bcl9l	BCL9 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309096	Bcl9l	BCL9 like	gene	DOID:10534	stomach cancer		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309096	Bcl9l	BCL9 like	gene	DOID:1324	lung cancer		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309096	Bcl9l	BCL9 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309096	Bcl9l	BCL9 like	gene	DOID:4362	cervical cancer		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309096	Bcl9l	BCL9 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309096	Bcl9l	BCL9 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309096	Bcl9l	BCL9 like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309096	Bcl9l	BCL9 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309097	Fibcd1	fibrinogen C domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309097	Fibcd1	fibrinogen C domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1319244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309097	Fibcd1	fibrinogen C domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309097	Fibcd1	fibrinogen C domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309098	Ptk6	protein tyrosine kinase 6	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1319246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1309098	Ptk6	protein tyrosine kinase 6	gene	DOID:10126	keratoconus		ISO	RGD:1319246	D	RGD:8554872	20181009	ClinVar		ClinVar Annotator: match by term: Keratoconus	
1309098	Ptk6	protein tyrosine kinase 6	gene	DOID:1115	sarcoma		ISO	RGD:1319246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309098	Ptk6	protein tyrosine kinase 6	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1319246	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
1309098	Ptk6	protein tyrosine kinase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309098	Ptk6	protein tyrosine kinase 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309098	Ptk6	protein tyrosine kinase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309098	Ptk6	protein tyrosine kinase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309099	Dnal4	dynein, axonemal, light chain 4	gene	DOID:0070639	mirror movements 3		ISO	RGD:1319248	D	RGD:7240710	20161026	OMIM			
1309099	Dnal4	dynein, axonemal, light chain 4	gene	DOID:0070639	mirror movements 3		ISO	RGD:1319248	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mirror movements 3	
1309099	Dnal4	dynein, axonemal, light chain 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309099	Dnal4	dynein, axonemal, light chain 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1319248	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309099	Dnal4	dynein, axonemal, light chain 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0050152	aspiration pneumonia		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aspiration pneumonia	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ductal carcinoma in situ	PMID:25741868
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0060243	stuttering		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stuttering	PMID:25741868|PMID:28492532
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 1	PMID:20859559|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29346770|PMID:29469822|PMID:29959388|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30664951|PMID:30859559|PMID:31182298|PMID:31533111|PMID:33792302|PMID:37792958|PMID:38178226|PMID:38333672|PMID:39062695
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0060580	Noonan syndrome 2		ISO	RGD:1319250	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0060580	Noonan syndrome 2		ISO	RGD:1319250	D	RGD:7240710	20260805	OMIM			
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0060580	Noonan syndrome 2		ISO	RGD:1319250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NOONAN SYNDROME 2 | ClinVar Annotator: match by term: Noonan Syndrome 2 | ClinVar Annotator: match by term: Noonan syndrome 2	PMID:16199547|PMID:17357086|PMID:17576681|PMID:18|PMID:2022|PMID:20301303|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24120142|PMID:24362817|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27921248|PMID:28135719|PMID:28191889|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29517885|PMID:29959388|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30732632|PMID:30859559|PMID:31128261|PMID:31130284|PMID:31182298|PMID:31219622|PMID:31475041|PMID:31825158|PMID:31883238|PMID:31980526|PMID:32059087|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33128510|PMID:33258288|PMID:33644862|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34645491|PMID:34853893|PMID:34913528|PMID:35101336|PMID:35352813|PMID:35840934|PMID:35982159|PMID:36113475|PMID:36445254|PMID:37436963|PMID:38413718|PMID:38434521|PMID:39003740|PMID:39039281|PMID:39140257|PMID:39150540|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0060588	Noonan syndrome 10		ISO	RGD:1319250	D	RGD:7240710	20260805	OMIM			
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0060588	Noonan syndrome 10		ISO	RGD:1319250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LZTR1-Related Disorder | ClinVar Annotator: match by term: LZTR1-related disorder | ClinVar Annotator: match by term: NOONAN SYNDROME 10 | ClinVar Annotator: match by term: Noonan syndrome 10	PMID:16199547|PMID:17357086|PMID:17576681|PMID:18|PMID:18948947|PMID:2022|PMID:20301303|PMID:23917401|PMID:24033266|PMID:24120142|PMID:24362817|PMID:24448499|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26901136|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28492532|PMID:28973083|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:29517885|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30859559|PMID:31128261|PMID:31130284|PMID:31169934|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33413596|PMID:33644862|PMID:33792302|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34853893|PMID:34913528|PMID:35251316|PMID:35352813|PMID:35391499|PMID:35840934|PMID:35982159|PMID:36113475|PMID:36304179|PMID:36307859|PMID:36445254|PMID:37436963|PMID:37936555|PMID:38178226|PMID:38413718|PMID:38434521|PMID:39003740|PMID:39062695|PMID:39140257|PMID:39150540|PMID:39434542|PMID:39472908|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0060588	Noonan syndrome 10		ISS	RGD:1319251	D	RGD:13592920	20230718	MouseDO		OMIM:616564	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acetabular dysplasia	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0070481	schwannomatosis 2		ISO	RGD:1319250	D	RGD:7240710	20260805	OMIM			
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0070481	schwannomatosis 2		ISO	RGD:1319250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LZTR1-related schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 2 | ClinVar Annotator: match by term: Schwannomatosis-2, susceptibility to	PMID:16199547|PMID:17357086|PMID:17576681|PMID:18|PMID:18948947|PMID:2022|PMID:20301303|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24120142|PMID:24362817|PMID:24448499|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:29517885|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30665374|PMID:30732632|PMID:30859559|PMID:31128261|PMID:31130284|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31475041|PMID:31825158|PMID:31883238|PMID:31980526|PMID:32004086|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33413596|PMID:33644862|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34626534|PMID:34853893|PMID:34913528|PMID:35101336|PMID:35131284|PMID:35251316|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35806449|PMID:35840934|PMID:35982159|PMID:36110220|PMID:36113475|PMID:36252119|PMID:36413997|PMID:36445254|PMID:37436963|PMID:37936555|PMID:38413718|PMID:38434521|PMID:39003740|PMID:39062695|PMID:39140257|PMID:39150540|PMID:39209702|PMID:39472908|PMID:40127276|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0080174	bladder exstrophy		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy	PMID:28492532
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1319250	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:17576681|PMID:24362817|PMID:25480913|PMID:25741868|PMID:28492532|PMID:29469822|PMID:30442762|PMID:30442766|PMID:30859559|PMID:33644862|PMID:33792302|PMID:34913528|PMID:35840934|PMID:36445254|PMID:37436963|PMID:38413718|PMID:38434521|PMID:39003740|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0080690	RASopathy		ISO	RGD:1319250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies	PMID:16199547|PMID:17357086|PMID:18948947|PMID:20301303|PMID:23917401|PMID:24120142|PMID:24362817|PMID:24448499|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:27921248|PMID:28017249|PMID:28492532|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29517885|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30664951|PMID:30859559|PMID:31128261|PMID:31182298|PMID:32623905|PMID:32981126|PMID:33258288|PMID:33792302|PMID:33897756|PMID:35101336|PMID:38178226|PMID:39062695|PMID:39140257
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1319250	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:17576681|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29409008|PMID:29469822|PMID:29493581|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:34184824|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532|PMID:39039281
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:10283	prostate cancer		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1319250	D	RGD:151893464|PMID:29069277	20220420	RGD		mRNA:altered expression:stomach, tumor (human)	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:1059	intellectual disability		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:10907	microcephaly		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31182298
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:16199547|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:33084842
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:11714	gestational diabetes		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1319250	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1319250	D	RGD:151708727|PMID:32004086	20220415	RGD		DNA:missense mutation:c.1394C>T p.A465V, c.1330G>A p.D444N (human)	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:12849	autistic disorder		ISO	RGD:1319250	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25961944
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:16199547|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23917401|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:32623905|PMID:33897756|PMID:35101336
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532|PMID:39039281
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:1826	epilepsy		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:2841	asthma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3068	glioblastoma		ISO	RGD:1319250	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23917401
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3068	glioblastoma		ISO	RGD:1319250	D	RGD:151708722|PMID:23917401	20220415	RGD		DNA:mutations:multiple (human)	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319250	D	RGD:8554872	20241126	ClinVar		ClinVar Annotator: match by term: Pediatric high-grade glioma	PMID:25741868
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3081	cystic lymphangioma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	PMID:25741868
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3192	neurilemmoma		ISO	RGD:1319250	D	RGD:151676717|PMID:24362817	20220413	RGD		DNA:missense mutation:cds,multiple (human)	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3192	neurilemmoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schwannoma	PMID:25741868|PMID:28492532
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3204	schwannomatosis		ISO	RGD:1319250	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24362817
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3204	schwannomatosis		ISO	RGD:1319250	D	RGD:151708704|PMID:29409008	20220414	RGD		DNA:multiple:multiple (human)	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3204	schwannomatosis		ISO	RGD:1319250	D	RGD:151708708|PMID:28365909	20220414	RGD		DNA:multiple:multiple (human)	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3204	schwannomatosis		ISO	RGD:1319250	D	RGD:151708709|PMID:25480913	20220414	RGD		DNA, protein:multiple, multiple:multiple, blood (human)	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3204	schwannomatosis		ISO	RGD:1319250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Schwannomatosis	PMID:16199547|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:27921248|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30665374|PMID:30859559|PMID:31182298|PMID:33413596|PMID:33644862|PMID:33792302|PMID:34913528|PMID:35251316|PMID:35391499|PMID:35840934|PMID:36445254|PMID:37436963|PMID:38413718|PMID:38434521|PMID:39003740
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3275	thymoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1319250	D	RGD:151667911|PMID:30872527	20220412	RGD		DNA:missense mutations:cds:R210X, c.2220-17C-A (human)	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1319250	D	RGD:151708718|PMID:31825158	20220415	RGD		DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human)	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:16199547|PMID:20859559|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28135719|PMID:28492532|PMID:29346770|PMID:29469822|PMID:29959388|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30664951|PMID:30859559|PMID:31182298|PMID:31533111|PMID:33057194|PMID:33128510|PMID:33792302|PMID:35840934|PMID:35982159|PMID:36113475|PMID:37792958|PMID:38178226|PMID:38333672|PMID:39062695
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1319251	D	RGD:151667909|PMID:32175818	20220412	RGD			
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3690	brachial plexus neuropathy		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachial plexus neuropathy	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1319250	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:3829	pituitary adenoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pituitary adenoma	PMID:25741868|PMID:28492532
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:4586	familial meningioma		ISO	RGD:1319250	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Familial multiple meningioma	PMID:25741868
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:57	aortic valve insufficiency		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic regurgitation	PMID:25741868
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:24362817|PMID:25008767|PMID:25335493|PMID:25480913|PMID:25795793|PMID:28365909|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:630	genetic disease		ISO	RGD:1319250	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319250	D	RGD:151893487|PMID:28622513	20220421	RGD		DNA:missense mutation:cds, liver (human)	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:24362817|PMID:25741868|PMID:25795793|PMID:28492532|PMID:30481304
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:39039281
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9003717	nonischemic cardiomyopathy		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: nonischemic cardiomyopathy	PMID:25741868|PMID:28492532|PMID:32310333|PMID:35689529
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31182298
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:35391499|PMID:35453828|PMID:35806449|PMID:35813072|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35806449|PMID:35813072|PMID:35979676|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:34853893|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35806449|PMID:35813072|PMID:35840934|PMID:35979676|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25741905|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:34645488|PMID:34853893|PMID:34958143|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35813072|PMID:35840934|PMID:35979676|PMID:36113475|PMID:36252119|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:34645488|PMID:34853893|PMID:34958143|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35813072|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:37936555|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35251316|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:37936555|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35251316|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:37600658|PMID:37936555|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16356934|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:29970176|PMID:30006736|PMID:30325044|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33332384|PMID:33407364|PMID:33413596|PMID:33587123|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35026164|PMID:35251316|PMID:35253369|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:36445254|PMID:37600658|PMID:37936555|PMID:38654924|PMID:38982897|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16356934|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:29970176|PMID:30006736|PMID:30325044|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31573083|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33332384|PMID:33407364|PMID:33413596|PMID:33587123|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35026164|PMID:35251316|PMID:35253369|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:36445254|PMID:36947458|PMID:37010288|PMID:37600658|PMID:37936555|PMID:38654924|PMID:38982897|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:16356934|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:29970176|PMID:30006736|PMID:30325044|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31573083|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33027564|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33332384|PMID:33407364|PMID:33413596|PMID:33587123|PMID:33644862|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34913528|PMID:34958143|PMID:35026164|PMID:35251316|PMID:35253369|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35695212|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:36445254|PMID:36947458|PMID:37010288|PMID:37436963|PMID:37600658|PMID:37936555|PMID:38135892|PMID:38178226|PMID:38217456|PMID:38413718|PMID:38434521|PMID:38654924|PMID:38982897|PMID:39003740|PMID:39062695|PMID:39140257|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16356934|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28973083|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:29970176|PMID:30006736|PMID:30325044|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31573083|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33027564|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33332384|PMID:33407364|PMID:33413596|PMID:33587123|PMID:33644862|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34308104|PMID:34401172|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34913528|PMID:34958143|PMID:35026164|PMID:35251316|PMID:35253369|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35695212|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:36445254|PMID:36609239|PMID:36947458|PMID:37010288|PMID:37436963|PMID:37600658|PMID:37936555|PMID:38135892|PMID:38178226|PMID:38217456|PMID:38413718|PMID:38434521|PMID:38654924|PMID:38982897|PMID:39003740|PMID:39062695|PMID:39140257|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16356934|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28973083|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:29970176|PMID:30006736|PMID:30325044|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31573083|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33027564|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33332384|PMID:33407364|PMID:33413596|PMID:33587123|PMID:33644862|PMID:33792302|PMID:34113392|PMID:34184824|PMID:34308104|PMID:34401172|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34913528|PMID:34958143|PMID:35026164|PMID:35251316|PMID:35253369|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35695212|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:36445254|PMID:36609239|PMID:36947458|PMID:37010288|PMID:37436963|PMID:37600658|PMID:37936555|PMID:38135892|PMID:38178226|PMID:38217456|PMID:38413718|PMID:38434521|PMID:38654924|PMID:38982897|PMID:39003740|PMID:39062695|PMID:39140257|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17357086|PMID:17576681|PMID:18|PMID:18948947|PMID:2022|PMID:20301303|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24120142|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:28973083|PMID:28991257|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:29517885|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31573083|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32059087|PMID:32368696|PMID:32502767|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33332384|PMID:33413596|PMID:33644862|PMID:33792302|PMID:33879870|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34626534|PMID:34645488|PMID:34853893|PMID:34913528|PMID:34958143|PMID:35101336|PMID:35251316|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35698239|PMID:35726512|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36110220|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36413997|PMID:36445254|PMID:36947458|PMID:37264205|PMID:37436963|PMID:37936555|PMID:38178226|PMID:38413718|PMID:38434521|PMID:39003740|PMID:39039281|PMID:39062695|PMID:39140257|PMID:39150540|PMID:39209702|PMID:39434542|PMID:39484914|PMID:40127276|PMID:40803040|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17357086|PMID:17576681|PMID:18|PMID:18948947|PMID:2022|PMID:20301303|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24120142|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:28973083|PMID:28991257|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:29517885|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31573083|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32059087|PMID:32368696|PMID:32502767|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33332384|PMID:33413596|PMID:33644862|PMID:33792302|PMID:33879870|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34626534|PMID:34645488|PMID:34853893|PMID:34913528|PMID:34958143|PMID:35101336|PMID:35251316|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35698239|PMID:35726512|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36110220|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36413997|PMID:36445254|PMID:36947458|PMID:37264205|PMID:37436963|PMID:37936555|PMID:38178226|PMID:38413718|PMID:38434521|PMID:39003740|PMID:39039281|PMID:39062695|PMID:39140257|PMID:39150540|PMID:39209702|PMID:39434542|PMID:39484914|PMID:40127276|PMID:40803040|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17357086|PMID:17576681|PMID:18|PMID:18948947|PMID:2022|PMID:20301303|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24120142|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28991257|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:29517885|PMID:29959388|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31573083|PMID:31825158|PMID:31883238|PMID:31980526|PMID:32004086|PMID:32059087|PMID:32368696|PMID:32502767|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33332384|PMID:33413596|PMID:33644862|PMID:33792302|PMID:33879870|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34626534|PMID:34853893|PMID:34913528|PMID:34958143|PMID:35101336|PMID:35251316|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35698239|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36110220|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36413997|PMID:36445254|PMID:36947458|PMID:37264205|PMID:37436963|PMID:37936555|PMID:38178226|PMID:38413718|PMID:38434521|PMID:39003740|PMID:39039281|PMID:39062695|PMID:39140257|PMID:39150540|PMID:39209702|PMID:39434542|PMID:39484914|PMID:40127276|PMID:40803040|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17357086|PMID:17576681|PMID:18|PMID:18948947|PMID:2022|PMID:20301303|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24120142|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28991257|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:29517885|PMID:29959388|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31573083|PMID:31825158|PMID:31883238|PMID:31980526|PMID:32004086|PMID:32059087|PMID:32368696|PMID:32502767|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33332384|PMID:33413596|PMID:33644862|PMID:33792302|PMID:33879870|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34626534|PMID:34853893|PMID:34913528|PMID:34958143|PMID:35101336|PMID:35251316|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35698239|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36110220|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36413997|PMID:36445254|PMID:36947458|PMID:37264205|PMID:37436963|PMID:37936555|PMID:38178226|PMID:38413718|PMID:38434521|PMID:39003740|PMID:39039281|PMID:39062695|PMID:39140257|PMID:39150540|PMID:39209702|PMID:39484914|PMID:40127276|PMID:40803040|PMID:9536098
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	PMID:25741868
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:25741868
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31182298
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:39039281
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:25741868|PMID:28492532
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9008675	Dyskinesias		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial dyskinesia	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:936	brain disease		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309100	Lztr1	leucine zipper like post translational regulator 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
1309101	Cep68	centrosomal protein 68	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309101	Cep68	centrosomal protein 68	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309101	Cep68	centrosomal protein 68	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1319252	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1309101	Cep68	centrosomal protein 68	gene	DOID:1909	melanoma		ISO	RGD:1319252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309101	Cep68	centrosomal protein 68	gene	DOID:5041	esophageal cancer		ISO	RGD:1319252	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309101	Cep68	centrosomal protein 68	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309101	Cep68	centrosomal protein 68	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309101	Cep68	centrosomal protein 68	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:10534	stomach cancer		ISO	RGD:1319254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:1115	sarcoma		ISO	RGD:1319254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:1324	lung cancer		ISO	RGD:1319254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:1909	melanoma		ISO	RGD:1319254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:3070	high grade glioma		ISO	RGD:1319254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1319254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309102	Trappc8	trafficking protein particle complex subunit 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:0070307	craniolenticulosutural dysplasia		ISO	RGD:1354109	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:17981132
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:0070307	craniolenticulosutural dysplasia		ISO	RGD:1354109	D	RGD:7240710	20130221	OMIM			
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:0070307	craniolenticulosutural dysplasia		ISO	RGD:1354109	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BOYADJIEV-JABS SYNDROME | ClinVar Annotator: match by term: CRANIOLENTICULOSUTURAL DYSPLASIA | ClinVar Annotator: match by term: Craniolenticulosutural dysplasia | ClinVar Annotator: match by term: SEC23A-related condition	PMID:17576681|PMID:21039434|PMID:22298774|PMID:25741868|PMID:28492532|PMID:34580982|PMID:37828500|PMID:9536098
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:10534	stomach cancer		ISO	RGD:1354109	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:1115	sarcoma		ISO	RGD:1354109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:1324	lung cancer		ISO	RGD:1354109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:1909	melanoma		ISO	RGD:1354109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:3070	high grade glioma		ISO	RGD:1354109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:3275	thymoma		ISO	RGD:1354109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:4362	cervical cancer		ISO	RGD:1354109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: Cervix cancer	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354109	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:5041	esophageal cancer		ISO	RGD:1354109	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:8398	osteoarthritis		ISO	RGD:1354109	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309103	Sec23a	SEC23 A, COPII component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309104	C13h1orf21	similar to human chromosome 1 open reading frame 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309104	C13h1orf21	similar to human chromosome 1 open reading frame 21	gene	DOID:0080600	COVID-19		ISO	RGD:1319257	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309104	C13h1orf21	similar to human chromosome 1 open reading frame 21	gene	DOID:1115	sarcoma		ISO	RGD:1319257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309104	C13h1orf21	similar to human chromosome 1 open reading frame 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309104	C13h1orf21	similar to human chromosome 1 open reading frame 21	gene	DOID:9001573	Experimental Liver Cirrhosis		EXP		D	RGD:11554173	20180130	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309104	C13h1orf21	similar to human chromosome 1 open reading frame 21	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1319259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:25741868|PMID:28492532|PMID:30656193
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:0070497	mitochondrial complex IV deficiency nuclear type 11		ISO	RGD:1319259	D	RGD:7240710	20201111	OMIM			
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:0070497	mitochondrial complex IV deficiency nuclear type 11		ISO	RGD:1319259	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COX20-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 11	PMID:25741868|PMID:28492532|PMID:30656193|PMID:31079202|PMID:33751098|PMID:35651336
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1319259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:28492532
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:1059	intellectual disability		ISO	RGD:1319259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:1115	sarcoma		ISO	RGD:1319259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:12849	autistic disorder		ISO	RGD:1319259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:2394	ovarian cancer		ISO	RGD:1319259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:28492532
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:3070	high grade glioma		ISO	RGD:1319259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1319259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency	PMID:25741868|PMID:28492532|PMID:30656193
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:630	genetic disease		ISO	RGD:1319259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30656193
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1319259	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532|PMID:30656193|PMID:31079202|PMID:33751098|PMID:35651336|PMID:36136859|PMID:37095481
1309105	Cox20	cytochrome c oxidase assembly factor COX20	gene	DOID:9220	central sleep apnea		ISO	RGD:1319259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central sleep apnea	PMID:25741868|PMID:28492532
1309106	C13h1orf105	similar to human chromosome 1 open reading frame 105	gene	DOID:10534	stomach cancer		ISO	RGD:1603371	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309106	C13h1orf105	similar to human chromosome 1 open reading frame 105	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309106	C13h1orf105	similar to human chromosome 1 open reading frame 105	gene	DOID:6039	uveal melanoma		ISO	RGD:1603371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309106	C13h1orf105	similar to human chromosome 1 open reading frame 105	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309107	Arhgap11a	Rho GTPase activating protein 11A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602334	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1309108	Jhy	junctional cadherin complex regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309108	Jhy	junctional cadherin complex regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309108	Jhy	junctional cadherin complex regulator	gene	DOID:1115	sarcoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309108	Jhy	junctional cadherin complex regulator	gene	DOID:1324	lung cancer		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309108	Jhy	junctional cadherin complex regulator	gene	DOID:1909	melanoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309108	Jhy	junctional cadherin complex regulator	gene	DOID:3275	thymoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309108	Jhy	junctional cadherin complex regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1605626	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309108	Jhy	junctional cadherin complex regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309108	Jhy	junctional cadherin complex regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309108	Jhy	junctional cadherin complex regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1319264	D	RGD:1601068|PMID:7849702	20070405	RGD		XPD,OMIM:278730;DNA:point mutation:exon:L461V, Q726X,	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1319264	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum	PMID:10447254|PMID:11285194|PMID:11319176|PMID:11335038|PMID:11443545|PMID:15982307|PMID:16111488|PMID:16135823|PMID:16707649|PMID:17403617|PMID:17576681|PMID:18191955|PMID:18470933|PMID:19085937|PMID:19934020|PMID:22234153|PMID:22826098|PMID:22836098|PMID:23221806|PMID:23232694|PMID:23382212|PMID:23800062|PMID:24033266|PMID:24418926|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26577220|PMID:26689913|PMID:26884178|PMID:26957611|PMID:26993158|PMID:27085493|PMID:27396511|PMID:27504877|PMID:28492532|PMID:29607586|PMID:30136158|PMID:30680046|PMID:30919937|PMID:31282071|PMID:31803976|PMID:31980526|PMID:32191290|PMID:32830346|PMID:32974964|PMID:33199492|PMID:3341805|PMID:35101336|PMID:35615778|PMID:35699229|PMID:38216115|PMID:39256447|PMID:39315505|PMID:39854657|PMID:39976384|PMID:7585650|PMID:7825573|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9101292|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9758621
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1319264	D	RGD:11252197|PMID:25154760	20160628	RGD			
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0050908	myelodysplastic syndrome	disease_progression	ISO	RGD:1319264	D	RGD:11075607|PMID:26482462	20160628	RGD		DNA:SNP: :p.K751Q (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1319264	D	RGD:1601069|PMID:9195225	20070405	RGD		trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0080911	cerebrooculofacioskeletal syndrome 1		ISO	RGD:1319264	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1	PMID:25741868|PMID:28492532
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0080912	cerebrooculofacioskeletal syndrome 2		ISO	RGD:1319264	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0080912	cerebrooculofacioskeletal syndrome 2		ISO	RGD:1319264	D	RGD:1601070|PMID:11443545	20070405	RGD		DNA:missense mutations:p.R616W, p.D681N (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0080912	cerebrooculofacioskeletal syndrome 2		ISO	RGD:1319264	D	RGD:7240710	20130425	OMIM			
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0080912	cerebrooculofacioskeletal syndrome 2		ISO	RGD:1319264	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2	PMID:10447254|PMID:11156600|PMID:11242112|PMID:11335038|PMID:11443545|PMID:11585917|PMID:11734544|PMID:12820975|PMID:15494306|PMID:15982307|PMID:16135823|PMID:16199547|PMID:17576681|PMID:18470933|PMID:18510924|PMID:18510925|PMID:18637129|PMID:19085937|PMID:19179371|PMID:19931493|PMID:19934020|PMID:20944642|PMID:22234153|PMID:22617342|PMID:22826098|PMID:22836098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23382212|PMID:23800062|PMID:24033266|PMID:24418926|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26577220|PMID:26884178|PMID:26957611|PMID:26993158|PMID:27396511|PMID:27504877|PMID:27862069|PMID:28492532|PMID:28749383|PMID:29169765|PMID:29607586|PMID:30919937|PMID:31110295|PMID:31282071|PMID:31803976|PMID:32047639|PMID:32191290|PMID:33199492|PMID:33733458|PMID:34930662|PMID:35599849|PMID:35615778|PMID:35699229|PMID:36310088|PMID:37536918|PMID:38216115|PMID:39256447|PMID:39854657|PMID:39976384|PMID:7585650|PMID:7825573|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9651581|PMID:9758621
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0110698	hypotrichosis 1		ISO	RGD:1319264	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary hypotrichosis simplex	PMID:19931493|PMID:20944642|PMID:23039039|PMID:23232694|PMID:24033266|PMID:25620205|PMID:25741868|PMID:28492532|PMID:31282071|PMID:31803976|PMID:8571952|PMID:9238033|PMID:9651581
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0110844	xeroderma pigmentosum group C		ISO	RGD:1319264	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum, group C	PMID:25741868
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0110845	xeroderma pigmentosum group D		ISO	RGD:1319264	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0110845	xeroderma pigmentosum group D		ISO	RGD:1319264	D	RGD:7240710	20130425	OMIM			
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0110845	xeroderma pigmentosum group D		ISO	RGD:1319264	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: XP, GROUP H | ClinVar Annotator: match by term: Xeroderma pigmentosum, group D | ClinVar Annotator: match by term: xeroderma pigmentosum group D	PMID:11242112|PMID:11285194|PMID:11319176|PMID:11335038|PMID:11443545|PMID:11585917|PMID:11734544|PMID:12820975|PMID:15494306|PMID:15982307|PMID:16111488|PMID:16135823|PMID:16199547|PMID:16707649|PMID:17403617|PMID:17576681|PMID:18191955|PMID:18470933|PMID:18510924|PMID:18510925|PMID:18637129|PMID:19085937|PMID:19931493|PMID:19934020|PMID:20944642|PMID:22234153|PMID:22572993|PMID:22826098|PMID:22836098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23382212|PMID:23800062|PMID:24033266|PMID:24418926|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26577220|PMID:26689913|PMID:26884178|PMID:26957611|PMID:26993158|PMID:27085493|PMID:27396511|PMID:27504877|PMID:28492532|PMID:29169765|PMID:29522548|PMID:29607586|PMID:30136158|PMID:30680046|PMID:31282071|PMID:31803976|PMID:31980526|PMID:32047639|PMID:32191290|PMID:32830346|PMID:33199492|PMID:34308104|PMID:35101336|PMID:35599849|PMID:35615778|PMID:35699229|PMID:37501076|PMID:38216115|PMID:39256447|PMID:39315505|PMID:39854657|PMID:39976384|PMID:7585650|PMID:7825573|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9101292|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9651581|PMID:9758621
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0110845	xeroderma pigmentosum group D		ISS	RGD:1319265	D	RGD:13592920	20230718	MouseDO		OMIM:278730	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0110892	inflammatory bowel disease 1		ISO	RGD:1319264	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease 1	PMID:18510924|PMID:18510925|PMID:22826098|PMID:23800062|PMID:24418926|PMID:25431422|PMID:25741868|PMID:28492532|PMID:29169765|PMID:32047639|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0111866	trichothiodystrophy		ISO	RGD:1319264	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: PIBIDS SYNDROME | ClinVar Annotator: match by term: PIBIDS syndrome | ClinVar Annotator: match by term: Trichothiodystrophy	PMID:11335038|PMID:15494306|PMID:15982307|PMID:16135823|PMID:16199547|PMID:17576681|PMID:18510924|PMID:18510925|PMID:18637129|PMID:19085937|PMID:19931493|PMID:19934020|PMID:20944642|PMID:22234153|PMID:22826098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23382212|PMID:23800062|PMID:24033266|PMID:24418926|PMID:24728327|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26884178|PMID:26957611|PMID:27504877|PMID:28492532|PMID:29169765|PMID:29607586|PMID:30136158|PMID:31282071|PMID:31803976|PMID:31980526|PMID:32047639|PMID:32191290|PMID:33199492|PMID:34930662|PMID:35615778|PMID:35699229|PMID:36259739|PMID:38216115|PMID:39256447|PMID:39854657|PMID:39976384|PMID:7585650|PMID:7825573|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9651581|PMID:9758621
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0111866	trichothiodystrophy		ISO	RGD:1319265	D	RGD:10401081|PMID:23046824	20150924	RGD		DNA:missense mutation: :p.R722W (mouse)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0111866	trichothiodystrophy		ISO	RGD:1319265	D	RGD:12880441|PMID:10416615	20170508	RGD			
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0111873	photosensitive trichothiodystrophy 1		ISO	RGD:1319264	D	RGD:7240710	20130425	OMIM			
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:0111873	photosensitive trichothiodystrophy 1		ISO	RGD:1319264	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE | ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive	PMID:11242112|PMID:11335038|PMID:11443545|PMID:11585917|PMID:11734544|PMID:12820975|PMID:15494306|PMID:15982307|PMID:16135823|PMID:16199547|PMID:17576681|PMID:18470933|PMID:18510924|PMID:18510925|PMID:18637129|PMID:19085937|PMID:19931493|PMID:19934020|PMID:20944642|PMID:22234153|PMID:22826098|PMID:22836098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23382212|PMID:23800062|PMID:24033266|PMID:24418926|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26577220|PMID:26884178|PMID:26957611|PMID:27396511|PMID:27504877|PMID:28492532|PMID:29169765|PMID:29607586|PMID:29625052|PMID:30136158|PMID:31282071|PMID:31803976|PMID:31980526|PMID:32047639|PMID:32191290|PMID:33199492|PMID:34930662|PMID:35599849|PMID:35615778|PMID:35699229|PMID:36259739|PMID:38216115|PMID:39256447|PMID:39854657|PMID:39976384|PMID:7585650|PMID:7825573|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9651581|PMID:9758621
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:1319264	D	RGD:5688739|PMID:17695467	20120302	RGD		DNA:missense mutation:cds:p.D312N (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:1319264	D	RGD:8657136|PMID:24649009	20170508	RGD		DNA:polymorphism:exon:p.R156R(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1319264	D	RGD:155260342|PMID:30417012	20221004	RGD		mRNA:increased expression:stomach (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1319264	D	RGD:11340202|PMID:26499900	20160629	RGD		DNA:SNP:exon:p.K751Q (2251A>C) (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1319264	D	RGD:155260339|PMID:27340861	20221003	RGD		DNA:SNP:intron: (rs50871) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:11335038|PMID:19085937|PMID:19934020|PMID:25741868|PMID:28492532|PMID:38216115|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319264	D	RGD:5688738|PMID:9714461	20120302	RGD		protein:increased expression:brain	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319264	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121791|PMID:27111033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319264	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:11335038|PMID:19085937|PMID:19934020|PMID:25741868|PMID:28492532|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1319264	D	RGD:11252208|PMID:25316812	20160628	RGD			
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:11088	asphyxia neonatorum		IEP		D	RGD:2302855|PMID:9763211	20150924	RGD		mRNA:increased expression:brain	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:11111	hydronephrosis		ISO	RGD:1319264	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:28492532|PMID:34930662
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:1148	polydactyly		ISO	RGD:1319264	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:28492532|PMID:34930662
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:12603	acute leukemia		ISO	RGD:1319264	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified	PMID:15982307|PMID:16135823|PMID:22234153|PMID:23221806|PMID:23232694|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:35699229|PMID:7585650|PMID:8571952|PMID:9195225|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:12689	acoustic neuroma	susceptibility	ISO	RGD:1319264	D	RGD:5688735|PMID:20150366	20120302	RGD		DNA:missense mutation:cds:p.D312N (rs1799793) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:14250	Down syndrome		ISO	RGD:1319264	D	RGD:5688738|PMID:9714461	20120302	RGD		protein:increased expression:brain	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:24728327|PMID:26689913|PMID:27085493|PMID:27504877|PMID:28492532|PMID:29980530|PMID:30680046|PMID:32830346|PMID:35101336|PMID:39315505
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1319264	D	RGD:12880387|PMID:15598761	20170505	RGD		DNA:haplotype:cds:6540G>A(D312N),18880A>C(p.K751Q)(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1319264	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17687452
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:1793	pancreatic cancer		ISO	RGD:1319264	D	RGD:2317223|PMID:18544627	20100322	RGD		pancreatic adenocarcinoma;DNA:SNPs: :rs1799793,rs1052555(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:1793	pancreatic cancer		ISO	RGD:1319264	D	RGD:2317228|PMID:16458430	20100322	RGD		DNA,protein:SNPs:exons:rs1799793,rs1052559(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:1793	pancreatic cancer	treatment	ISO	RGD:1319264	D	RGD:11252206|PMID:21404106	20160628	RGD			
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:1826	epilepsy		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11335038|PMID:19085937|PMID:19934020|PMID:25741868|PMID:28492532|PMID:38216115|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1319264	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28492532|PMID:34930662
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:1909	melanoma		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24728327|PMID:25741868|PMID:28492532
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:1909	melanoma		ISO	RGD:1319264	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:15982307|PMID:16135823|PMID:22234153|PMID:23221806|PMID:23232694|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:35699229|PMID:7585650|PMID:8571952|PMID:9195225|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:1319264	D	RGD:12880434|PMID:21390047	20170508	RGD		DNA:polymorphism:exon:p.K751Q(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:2152	ovary epithelial cancer	severity	ISO	RGD:1319264	D	RGD:5688741|PMID:19786980	20120302	RGD		DNA:missense mutation:cds:p.D312N (rs1799793) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319264	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:15982307|PMID:16135823|PMID:22234153|PMID:23221806|PMID:23232694|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:35699229|PMID:7585650|PMID:8571952|PMID:9195225|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:2394	ovarian cancer		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:11242112|PMID:11585917|PMID:11734544|PMID:12820975|PMID:24728327|PMID:25431422|PMID:25741868|PMID:26344056|PMID:28492532|PMID:32191290|PMID:35599849|PMID:39256447|PMID:39854657|PMID:8571952|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:2960	photosensitive trichothiodystrophy		ISO	RGD:1319264	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS	PMID:11335038|PMID:15494306|PMID:15982307|PMID:16135823|PMID:16199547|PMID:17576681|PMID:18510924|PMID:18510925|PMID:18637129|PMID:19085937|PMID:19934020|PMID:22234153|PMID:22826098|PMID:23221806|PMID:23232694|PMID:23382212|PMID:23800062|PMID:24033266|PMID:24418926|PMID:24728327|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26884178|PMID:26957611|PMID:27504877|PMID:28492532|PMID:29169765|PMID:29607586|PMID:30136158|PMID:31980526|PMID:32047639|PMID:32191290|PMID:33199492|PMID:34930662|PMID:35615778|PMID:35699229|PMID:36259739|PMID:38216115|PMID:39256447|PMID:39854657|PMID:39976384|PMID:7585650|PMID:7825573|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9758621
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:2960	photosensitive trichothiodystrophy		ISS	RGD:1319265	D	RGD:13592920	20180518	MouseDO		OMIM:601675	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1319265	D	RGD:10401080|PMID:16904611	20150924	RGD		associated with Xeroderma Pigmentosum;DNA:missense mutation: :p.G602D (mouse)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:3070	high grade glioma	susceptibility	ISO	RGD:1319264	D	RGD:10401082|PMID:11319176	20150924	RGD			
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ewing sarcoma	PMID:25186949|PMID:27993330|PMID:35079231
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1319264	D	RGD:12880440|PMID:27566080	20170508	RGD		DNA:SNP: :rs13181(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:37	skin disease		ISO	RGD:1319264	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17050553
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:37	skin disease	susceptibility	ISO	RGD:1319264	D	RGD:12880437|PMID:19834688	20170508	RGD		associated with Arsenic Poisoning;DNA:polymorphism:cds:35931A>C(p. K751Q)(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1319264	D	RGD:12880391|PMID:25596702	20170505	RGD		DNA:polymorphism:cds:p.K751Q(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1319264	D	RGD:153323316|PMID:28924235	20221004	RGD		DNA:SNPs:multiple (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1319264	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:15982307|PMID:16135823|PMID:22234153|PMID:23221806|PMID:23232694|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:35699229|PMID:7585650|PMID:8571952|PMID:9195225|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:1319264	D	RGD:10401085|PMID:20375340	20150924	RGD		DNA:missense mutations, haplotype:cds:p.D312N, p.K751Q (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:4603	epidermolytic hyperkeratosis		ISO	RGD:1319264	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17050553
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:4971	myelofibrosis	no_association	ISO	RGD:1319264	D	RGD:11252191|PMID:23716550	20160628	RGD		DNA:polymorphism: :p.K751Q (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1319264	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319264	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:15982307|PMID:16135823|PMID:22234153|PMID:23221806|PMID:23232694|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:35699229|PMID:7585650|PMID:8571952|PMID:9195225|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:630	genetic disease		ISO	RGD:1319264	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11156600|PMID:11335038|PMID:11443545|PMID:11709541|PMID:11710928|PMID:11734544|PMID:12820975|PMID:15494306|PMID:15534626|PMID:15982307|PMID:16054878|PMID:16135823|PMID:18470933|PMID:18510925|PMID:18637129|PMID:18709642|PMID:19085937|PMID:19934020|PMID:20633800|PMID:22234153|PMID:22617342|PMID:22826098|PMID:23221806|PMID:23232694|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24418926|PMID:24448499|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26467025|PMID:26556299|PMID:26577220|PMID:26580448|PMID:26689913|PMID:26884178|PMID:27004399|PMID:27396511|PMID:27504877|PMID:28376765|PMID:28492532|PMID:28749383|PMID:29169765|PMID:29478780|PMID:29607586|PMID:30136158|PMID:31980526|PMID:33199492|PMID:35699229|PMID:37501076|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:630	genetic disease		ISO	RGD:1319264	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11156600|PMID:11443545|PMID:15494306|PMID:15982307|PMID:16135823|PMID:18470933|PMID:18510925|PMID:18637129|PMID:19934020|PMID:22234153|PMID:22617342|PMID:22826098|PMID:23221806|PMID:23232694|PMID:23800062|PMID:24418926|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26577220|PMID:26884178|PMID:27504877|PMID:28492532|PMID:28749383|PMID:29169765|PMID:29607586|PMID:30136158|PMID:31980526|PMID:35699229|PMID:36310088|PMID:39055713|PMID:7585650|PMID:7849702|PMID:8571952|PMID:9195225|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:635	acquired immunodeficiency syndrome	susceptibility	ISO	RGD:1319264	D	RGD:5688740|PMID:20127180	20170508	RGD		DNA:polymorphism:exon:p.K751Q(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1319264	D	RGD:150530503|PMID:28927037	20211214	RGD		DNA:SNP:cd: 312A>G (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1319264	D	RGD:25671459|PMID:19919686	20200427	RGD		DNA:SNPs:exon 23: p.K751Q  (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1319264	D	RGD:25671460|PMID:25531380	20200427	RGD		DNA:SNPs:exon 23: p.K751Q (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1319264	D	RGD:25671461|PMID:28598207	20200427	RGD		DNA:SNPs:exon 23: p.K751Q (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:83	cataract		ISO	RGD:1319265	D	RGD:12880390|PMID:25951169	20170505	RGD		DNA:mutation:cds:c.2209T>C (p.S37P) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1319264	D	RGD:11060463|PMID:25311495	20160628	RGD		DNA:polymorphism: :p.K751Q (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1319264	D	RGD:11252188|PMID:24955348	20160628	RGD		DNA:polymorphism: :p.K751Q (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:8778	Crohn's disease		ISO	RGD:1319264	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease 1	PMID:18510924|PMID:18510925|PMID:22826098|PMID:23800062|PMID:24418926|PMID:25431422|PMID:25741868|PMID:28492532|PMID:29169765|PMID:32047639|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:1319264	D	RGD:5688734|PMID:21283657	20120302	RGD		DNA:SNP: :p.D312N (rs1799793) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1319264	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17009404
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9001946	Skin Abnormalities		ISO	RGD:1319264	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17470448
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1319264	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:28492532|PMID:35229910
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1319264	D	RGD:11252203|PMID:22739018	20160628	RGD		DNA:SNP: :p.K751Q (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	severity	ISO	RGD:1319264	D	RGD:11252204|PMID:19484764	20160628	RGD		DNA:SNP: :p.K751Q (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319264	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17695467
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1319264	D	RGD:11252176|PMID:25881102	20160628	RGD		DNA:SNP: :rs1799793(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:11335038|PMID:19085937|PMID:19934020|PMID:25741868|PMID:28492532|PMID:38216115|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9003386	Sunburn		ISO	RGD:1319264	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17470448
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1319264	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17050553
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9004486	Drug-induced Neutropenia	treatment	ISO	RGD:1319264	D	RGD:11098572|PMID:21047201	20160629	RGD		associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hearing loss	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9004814	Chromosome Aberrations	susceptibility	ISO	RGD:1319264	D	RGD:12880393|PMID:17050553	20170505	RGD		associated with arsenic induced Hyperkeratosis; DNA:polymorphism:cds:p. K751Q(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9004866	Ataxia		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1319264	D	RGD:1331525|PMID:15118671	19990101	GAD			
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9005172	Lung Neoplasms	susceptibility	ISO	RGD:1319264	D	RGD:12880386|PMID:17498557	20170505	RGD		DNA:haplotype:cds:p.K751Q(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9005463	Occupational Diseases		ISO	RGD:1319264	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16889696
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9005616	Micrognathism		ISO	RGD:1319264	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532|PMID:34930662
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9005622	Congenital Ichthyosis with Trichothiodystrophy		ISO	RGD:1319264	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS	PMID:11335038|PMID:15494306|PMID:15982307|PMID:16135823|PMID:16199547|PMID:17576681|PMID:18510924|PMID:18510925|PMID:18637129|PMID:19085937|PMID:19934020|PMID:22234153|PMID:22826098|PMID:23221806|PMID:23232694|PMID:23382212|PMID:23800062|PMID:24033266|PMID:24418926|PMID:24728327|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26884178|PMID:26957611|PMID:27504877|PMID:28492532|PMID:29169765|PMID:29607586|PMID:30136158|PMID:31980526|PMID:32047639|PMID:32191290|PMID:33199492|PMID:34930662|PMID:35615778|PMID:35699229|PMID:36259739|PMID:38216115|PMID:39256447|PMID:39854657|PMID:39976384|PMID:7585650|PMID:7825573|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9758621
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9006169	Head and Neck Neoplasms	severity	ISO	RGD:1319264	D	RGD:11573297|PMID:26659720	20170508	RGD		mRNA:increased expression: :	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions	treatment	ISO	RGD:1319264	D	RGD:11252178|PMID:17197435	20160628	RGD		associated with Leukemia, Myeloid, Acute;DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions	treatment	ISO	RGD:1319264	D	RGD:11252202|PMID:15339847	20160628	RGD		DNA:SNP: :p.K751Q (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319264	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:15494306|PMID:18510925|PMID:18637129|PMID:19934020|PMID:22826098|PMID:24418926|PMID:25620205|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29169765|PMID:7585650|PMID:8571952|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9007364	Mouth Neoplasms	susceptibility	ISO	RGD:1319264	D	RGD:8552678|PMID:17290401	20140425	RGD		DNA:polymorphisms:cds:p.D312N,K751Q(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9007659	Anthracycline-induced Cardiotoxicity		ISO	RGD:1319264	D	RGD:11252190|PMID:24284041	20160705	RGD		associated with Leukemia, Myeloid, Acute;DNA:SNP:exon:p.K751Q (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9007715	Endometrial Neoplasms	susceptibility	ISO	RGD:1319264	D	RGD:12880439|PMID:26349749	20170508	RGD		DNA:polymorphism:exon:p.R156R(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319264	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18267032
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:1319264	D	RGD:11340203|PMID:19307510	20160629	RGD		DNA:SNP:exon:p.K751Q (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319264	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:15982307|PMID:16135823|PMID:22234153|PMID:23221806|PMID:23232694|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:35699229|PMID:7585650|PMID:8571952|PMID:9195225|PMID:9238033
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9009116	Urinary Bladder Neoplasm		ISO	RGD:1319264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary Bladder Neoplasms	PMID:25741868
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319264	D	RGD:11252198|PMID:22496165	20160628	RGD		associated with Myeloproliferative Disorders;DNA:polymorphism: :p.K751Q (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1319264	D	RGD:11252173|PMID:20141440	20160628	RGD		DNA:polymorphism: :p.K751Q (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1319264	D	RGD:11252209|PMID:21394217	20160628	RGD		DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9119	acute myeloid leukemia	no_association	ISO	RGD:1319264	D	RGD:11252193|PMID:23397959	20160628	RGD		DNA:polymorphism: :p.K751Q (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1319264	D	RGD:155260343|PMID:16951227	20221004	RGD		mRNA:increased expression:colorectum (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1319264	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:1319264	D	RGD:11252199|PMID:22183071	20160628	RGD		DNA:polymorphism: :p.K751Q (rs13181) (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9538	multiple myeloma	sexual_dimorphism	ISO	RGD:1319264	D	RGD:401827277|PMID:17131345	20230927	RGD		DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9655	oral mucosa leukoplakia	susceptibility	ISO	RGD:1319264	D	RGD:8552678|PMID:17290401	20140425	RGD		DNA:polymorphism:cds:p.K751Q(human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9669	senile cataract	no_association	ISO	RGD:1319264	D	RGD:10401083|PMID:21599457	20150924	RGD		DNA:missense mutation:cds:p.K751Q (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9669	senile cataract	susceptibility	ISO	RGD:1319264	D	RGD:10401084|PMID:24868140	20150924	RGD		DNA:missense mutation:cds:p.D312N (human)	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1319264	D	RGD:11340201|PMID:21987080	20160629	RGD		DNA:haplotype	
1309109	Ercc2	ERCC excision repair 2, TFIIH core complex helicase subunit	gene	DOID:9952	acute lymphoblastic leukemia	no_association	ISO	RGD:1319264	D	RGD:11252192|PMID:19101034	20160628	RGD		DNA:missense mutations: :p.D312N, p.K751Q (human)	
1309111	Dym	dymeclin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309111	Dym	dymeclin	gene	DOID:0060247	Smith-McCort dysplasia		ISO	RGD:1350887	D	RGD:11554173	20221129	CTD		CTD Direct Evidence: marker/mechanism	
1309111	Dym	dymeclin	gene	DOID:0060247	Smith-McCort dysplasia		ISS	RGD:1622292	D	RGD:13592920	20230718	MouseDO			
1309111	Dym	dymeclin	gene	DOID:0081270	Smith-McCort dysplasia 1		ISO	RGD:1350887	D	RGD:7240710	20221123	OMIM			
1309111	Dym	dymeclin	gene	DOID:0081270	Smith-McCort dysplasia 1		ISO	RGD:1350887	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYM-related condition | ClinVar Annotator: match by term: SMITH-MCCORT DYSPLASIA 1 | ClinVar Annotator: match by term: SMITH-McCORT DYSPLASIA 1 | ClinVar Annotator: match by term: Smith-McCort dysplasia 1	PMID:12491225|PMID:12554689|PMID:18996921|PMID:25741868|PMID:28492532
1309111	Dym	dymeclin	gene	DOID:0111167	Dyggve-Melchior-Clausen disease		ISO	RGD:1350887	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309111	Dym	dymeclin	gene	DOID:0111167	Dyggve-Melchior-Clausen disease		ISO	RGD:1350887	D	RGD:7240710	20130221	OMIM			
1309111	Dym	dymeclin	gene	DOID:0111167	Dyggve-Melchior-Clausen disease		ISO	RGD:1350887	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYGGVE-MELCHIOR-CLAUSEN DISEASE | ClinVar Annotator: match by term: Dyggve-Melchior-Clausen disease | ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome	PMID:12491225|PMID:12554689|PMID:16199547|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532|PMID:29620724|PMID:38860472
1309111	Dym	dymeclin	gene	DOID:10283	prostate cancer		ISO	RGD:1350887	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309111	Dym	dymeclin	gene	DOID:10283	prostate cancer		ISO	RGD:1350887	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309111	Dym	dymeclin	gene	DOID:10534	stomach cancer		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309111	Dym	dymeclin	gene	DOID:10908	hydrocephalus		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
1309111	Dym	dymeclin	gene	DOID:1324	lung cancer		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309111	Dym	dymeclin	gene	DOID:1909	melanoma		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309111	Dym	dymeclin	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1350887	D	RGD:1598787|PMID:12491225	20061219	RGD			
1309111	Dym	dymeclin	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:28492532
1309111	Dym	dymeclin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309111	Dym	dymeclin	gene	DOID:5419	schizophrenia		ISO	RGD:1350887	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1309111	Dym	dymeclin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309111	Dym	dymeclin	gene	DOID:630	genetic disease		ISO	RGD:1350887	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12491225|PMID:12554689|PMID:18996921|PMID:25741868|PMID:28492532
1309111	Dym	dymeclin	gene	DOID:65	connective tissue disease		ISO	RGD:1350887	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
1309111	Dym	dymeclin	gene	DOID:9003816	Macrocephaly		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
1309111	Dym	dymeclin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
1309111	Dym	dymeclin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309111	Dym	dymeclin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
1309111	Dym	dymeclin	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
1309111	Dym	dymeclin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309112	Rab24	RAB24, member RAS oncogene family	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:12062566	D	RGD:9068941	20250904	OMIA		Ataxia, cerebellar, juvenile to adolescent, RAB24-related	PMID:11043686|PMID:24516392|PMID:37341581|PMID:38003185|PMID:3973637|PMID:40869982|PMID:6502189|PMID:7341602|PMID:7440348
1309112	Rab24	RAB24, member RAS oncogene family	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1344346	D	RGD:152177496|PMID:27354594	20220513	RGD		DNA:SNP:3'utr: (rs1128287) C>A (human)	
1309112	Rab24	RAB24, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309112	Rab24	RAB24, member RAS oncogene family	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309112	Rab24	RAB24, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309112	Rab24	RAB24, member RAS oncogene family	gene	DOID:9003566	Mesothelioma		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1309112	Rab24	RAB24, member RAS oncogene family	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309113	Hoxb13	homeo box B13	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1319269	D	RGD:2314726|PMID:19250546	20091124	RGD		DNA:hypermethylation	
1309113	Hoxb13	homeo box B13	gene	DOID:10283	prostate cancer		ISO	RGD:1319269	D	RGD:2314731|PMID:15583692	20091124	RGD		mRNA:increased expression:prostate gland	
1309113	Hoxb13	homeo box B13	gene	DOID:10283	prostate cancer		ISO	RGD:1319269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: prostate cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1309113	Hoxb13	homeo box B13	gene	DOID:10534	stomach cancer		ISO	RGD:1319269	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:36988593
1309113	Hoxb13	homeo box B13	gene	DOID:1380	endometrial cancer		ISO	RGD:1319269	D	RGD:2314730|PMID:15756448	20091124	RGD			
1309113	Hoxb13	homeo box B13	gene	DOID:1909	melanoma		ISO	RGD:1319269	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17145863
1309113	Hoxb13	homeo box B13	gene	DOID:4362	cervical cancer		ISO	RGD:1319269	D	RGD:2314728|PMID:16803519	20091124	RGD		mRNA:increased expression:uterine cervix	
1309113	Hoxb13	homeo box B13	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1319269	D	RGD:2314729|PMID:16278676	20091124	RGD		DNA:hypermethylation	
1309113	Hoxb13	homeo box B13	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1319269	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer	PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:32546843|PMID:8756292
1309113	Hoxb13	homeo box B13	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1319269	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26779768|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:32546843|PMID:32830201|PMID:38922859|PMID:8756292
1309113	Hoxb13	homeo box B13	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319269	D	RGD:11554173	20220607	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104005|PMID:24239177|PMID:24390282|PMID:26457646|PMID:32690948|PMID:35468964
1309113	Hoxb13	homeo box B13	gene	DOID:9003452	Prostate Cancer, Hereditary, 9		ISO	RGD:1319269	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309113	Hoxb13	homeo box B13	gene	DOID:9003452	Prostate Cancer, Hereditary, 9		ISO	RGD:1319269	D	RGD:7240710	20190315	OMIM			
1309113	Hoxb13	homeo box B13	gene	DOID:9003452	Prostate Cancer, Hereditary, 9		ISO	RGD:1319269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HOXB13-related condition | ClinVar Annotator: match by term: Prostate cancer, hereditary, 9	PMID:22781434|PMID:25741868|PMID:26467025|PMID:28072499|PMID:28272408|PMID:28492532|PMID:31214711|PMID:32040869|PMID:34799695|PMID:35031163|PMID:36446039|PMID:37806842
1309113	Hoxb13	homeo box B13	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1319269	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
1309113	Hoxb13	homeo box B13	gene	DOID:9005062	Prostate Cancer, Hereditary, 1		ISO	RGD:1319269	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Prostate cancer, hereditary, 1	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
1309113	Hoxb13	homeo box B13	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319269	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22236224
1309113	Hoxb13	homeo box B13	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:22781434|PMID:25741868|PMID:28492532|PMID:32040869|PMID:34799695|PMID:35031163|PMID:36446039|PMID:37806842
1309113	Hoxb13	homeo box B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:31214711|PMID:32040869|PMID:32546843|PMID:8756292|PMID:9536098
1309113	Hoxb13	homeo box B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:8756292|PMID:9536098
1309113	Hoxb13	homeo box B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:8756292|PMID:9536098
1309113	Hoxb13	homeo box B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22423909|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23104005|PMID:23129385|PMID:23292082|PMID:23457453|PMID:23518396|PMID:23535732|PMID:24026887|PMID:24148311|PMID:24497837|PMID:24550738|PMID:24740154|PMID:24818853|PMID:25206306|PMID:25629170|PMID:25741868|PMID:25874003|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26604137|PMID:26845104|PMID:26967244|PMID:27153395|PMID:27262462|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27814745|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28598379|PMID:28798948|PMID:29181843|PMID:29740894|PMID:29892050|PMID:29915322|PMID:30397198|PMID:30527799|PMID:30560549|PMID:30665703|PMID:30777372|PMID:31214711|PMID:31226226|PMID:31556563|PMID:32040869|PMID:32338768|PMID:32546843|PMID:32830201|PMID:8756292|PMID:9536098
1309113	Hoxb13	homeo box B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:34799695|PMID:35031163|PMID:36988593|PMID:8756292|PMID:9536098
1309113	Hoxb13	homeo box B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26343386|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:31785789|PMID:32040869|PMID:32338768|PMID:32546843|PMID:34609407|PMID:34799695|PMID:35031163|PMID:36243179|PMID:36988593|PMID:8756292|PMID:9536098
1309113	Hoxb13	homeo box B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22718278|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26343386|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:31785789|PMID:32040869|PMID:32338768|PMID:32546843|PMID:34609407|PMID:34799695|PMID:35031163|PMID:36095024|PMID:36243179|PMID:36446039|PMID:36988593|PMID:37806842|PMID:8756292|PMID:9536098
1309113	Hoxb13	homeo box B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22718278|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26343386|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:31785789|PMID:32040869|PMID:32338768|PMID:32546843|PMID:34609407|PMID:34709755|PMID:34799695|PMID:35031163|PMID:35534218|PMID:36095024|PMID:36243179|PMID:36446039|PMID:36988593|PMID:37806842|PMID:8756292|PMID:9536098
1309113	Hoxb13	homeo box B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22718278|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26343386|PMID:26467025|PMID:26517352|PMID:26779768|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:31785789|PMID:32040869|PMID:32338768|PMID:32546843|PMID:32830201|PMID:34609407|PMID:34709755|PMID:34799695|PMID:35031163|PMID:35534218|PMID:36095024|PMID:36243179|PMID:36446039|PMID:36988593|PMID:37806842|PMID:8756292|PMID:9536098
1309113	Hoxb13	homeo box B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22718278|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23396964|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26343386|PMID:26467025|PMID:26517352|PMID:26779768|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:31785789|PMID:32040869|PMID:32338768|PMID:32546843|PMID:32830201|PMID:34609407|PMID:34709755|PMID:34799695|PMID:35031163|PMID:35534218|PMID:36095024|PMID:36243179|PMID:36446039|PMID:36988593|PMID:37415201|PMID:37806842|PMID:8756292|PMID:9536098
1309113	Hoxb13	homeo box B13	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:22236224|PMID:22781434|PMID:25741868|PMID:26176944|PMID:26343386|PMID:26467025|PMID:27424772|PMID:27701467|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:31024864|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32660704|PMID:34799695|PMID:35031163|PMID:35534218|PMID:36095024|PMID:36243179|PMID:36446039|PMID:36988593|PMID:37806842|PMID:9536098
1309113	Hoxb13	homeo box B13	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319269	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24239177
1309113	Hoxb13	homeo box B13	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319269	D	RGD:2314726|PMID:19250546	20091124	RGD		DNA:hypermethylation	
1309113	Hoxb13	homeo box B13	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:1319269	D	RGD:2314727|PMID:17453342	20091124	RGD			
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1319271	D	RGD:10450533|PMID:11110716	20160115	RGD			
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1319271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe congenital neutropenia	PMID:24753537|PMID:28492532|PMID:28652245|PMID:31321910|PMID:32581362
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:0050590	severe congenital neutropenia	disease_progression	ISO	RGD:1319271	D	RGD:10450485|PMID:16985178	20160114	RGD			
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1319271	D	RGD:10450504|PMID:12670333	20160114	RGD		Protein:decreased expression:CD34++ cell:	
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:0050908	myelodysplastic syndrome	disease_progression	ISO	RGD:1319271	D	RGD:10450471|PMID:15644419	20160113	RGD		DNA:SNP:cds:p.E785K(human)	
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:0080187	chronic neutrophilic leukemia		ISO	RGD:1319271	D	RGD:10450482|PMID:24081659	20160114	RGD			
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:0080187	chronic neutrophilic leukemia		ISO	RGD:1319271	D	RGD:10450483|PMID:23604229	20160114	RGD		DNA:mutation:exon:p.T618I(human)	
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:0080188	chronic myelomonocytic leukemia	disease_progression	ISO	RGD:1319271	D	RGD:10450469|PMID:23774674	20160113	RGD		DNA:mutations:multiples:	
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:0090120	hereditary neutrophilia		ISO	RGD:1319271	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:0090120	hereditary neutrophilia		ISO	RGD:1319271	D	RGD:7240710	20220406	OMIM			
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:0090120	hereditary neutrophilia		ISO	RGD:1319271	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CSF3R-related disorder | ClinVar Annotator: match by term: Hereditary neutrophilia	PMID:15644419|PMID:17576681|PMID:23604229|PMID:23656643|PMID:23896413|PMID:24627528|PMID:24753537|PMID:24822171|PMID:25741868|PMID:26324699|PMID:26475333|PMID:27069254|PMID:28209919|PMID:28302714|PMID:28492532|PMID:31345219|PMID:31589614|PMID:32499645|PMID:32888494|PMID:32966608|PMID:33108454|PMID:33510405|PMID:34778134|PMID:35178734|PMID:38003211|PMID:39080258|PMID:8751483|PMID:9536098
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:0090120	hereditary neutrophilia		ISS	RGD:1319272	D	RGD:13592920	20230718	MouseDO		OMIM:162830	
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:0112129	severe congenital neutropenia 7		ISO	RGD:1319271	D	RGD:7240710	20190315	OMIM			
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:0112129	severe congenital neutropenia 7		ISO	RGD:1319271	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neutropenia, severe congenital, 7, autosomal recessive	PMID:15644419|PMID:16199547|PMID:17576681|PMID:22371884|PMID:23604229|PMID:23656643|PMID:23896413|PMID:24033266|PMID:24627528|PMID:24753537|PMID:24822171|PMID:25741868|PMID:26324699|PMID:26475333|PMID:27069254|PMID:28209919|PMID:28302714|PMID:28492532|PMID:28652245|PMID:30028820|PMID:30348809|PMID:30891028|PMID:31041512|PMID:31309983|PMID:31321910|PMID:31345219|PMID:31589614|PMID:32499645|PMID:32888494|PMID:32966608|PMID:33108454|PMID:33510405|PMID:34778134|PMID:35178734|PMID:35295078|PMID:38003211|PMID:39080258|PMID:8751483|PMID:9536098
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:10534	stomach cancer		ISO	RGD:1319271	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:1324	lung cancer		ISO	RGD:1319271	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:1485	cystic fibrosis		ISO	RGD:1319271	D	RGD:5133738|PMID:19293384	20110628	RGD		protein:increased expression:respiratory system fluid/secretion, neutrophil	
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:1909	melanoma		ISO	RGD:1319271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:2226	myeloproliferative neoplasm		ISO	RGD:1319271	D	RGD:10450501|PMID:23897249	20160114	RGD			
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:3275	thymoma		ISO	RGD:1319271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:552	pneumonia		ISO	RGD:1319271	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319271	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:23604229|PMID:23656643|PMID:23896413|PMID:24627528|PMID:27069254|PMID:28302714
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1319271	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:24753537|PMID:25741868|PMID:26324699|PMID:28492532|PMID:31345219|PMID:31589614|PMID:32499645|PMID:32888494|PMID:32966608|PMID:33108454|PMID:33510405|PMID:34778134|PMID:35178734
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:630	genetic disease		ISO	RGD:1319271	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:874	bacterial pneumonia	disease_progression	ISO	RGD:1319272	D	RGD:5133739|PMID:17185469	20110628	RGD			
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:9001039	Leukocytosis		ISO	RGD:1319271	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19620628
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:9001473	Severe Chronic Neutropenia		ISO	RGD:1319272	D	RGD:10450484|PMID:9639496	20160114	RGD			
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319271	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:23604229|PMID:23634996|PMID:23656643|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30967555|PMID:31697825
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319272	D	RGD:10450470|PMID:21911095	20160113	RGD			
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1319271	D	RGD:10450468|PMID:24746896	20160113	RGD			
1309114	Csf3r	colony stimulating factor 3 receptor	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:1319271	D	RGD:10450487|PMID:9001427	20160114	RGD		associated with Severe Congenital Neutropenia;DNA:nonsense mutation:cds:	
1309115	Pycr3	pyrroline-5-carboxylate reductase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309115	Pycr3	pyrroline-5-carboxylate reductase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309115	Pycr3	pyrroline-5-carboxylate reductase 3	gene	DOID:10283	prostate cancer		ISO	RGD:1319273	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309115	Pycr3	pyrroline-5-carboxylate reductase 3	gene	DOID:10283	prostate cancer		ISO	RGD:1319273	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309115	Pycr3	pyrroline-5-carboxylate reductase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309115	Pycr3	pyrroline-5-carboxylate reductase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309115	Pycr3	pyrroline-5-carboxylate reductase 3	gene	DOID:3275	thymoma		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309115	Pycr3	pyrroline-5-carboxylate reductase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309115	Pycr3	pyrroline-5-carboxylate reductase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309115	Pycr3	pyrroline-5-carboxylate reductase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309115	Pycr3	pyrroline-5-carboxylate reductase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309116	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309116	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:0111482	combined oxidative phosphorylation deficiency 36		ISO	RGD:1319275	D	RGD:7240710	20190315	OMIM			
1309116	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:0111482	combined oxidative phosphorylation deficiency 36		ISO	RGD:1319275	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 | ClinVar Annotator: match by term: MRPS2-related condition	PMID:25741868|PMID:28492532
1309116	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319275	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309116	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:3275	thymoma		ISO	RGD:1319275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309116	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309116	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309116	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309116	Mrps2	mitochondrial ribosomal protein S2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309117	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309117	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309117	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309117	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309117	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309117	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309117	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309117	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309117	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:6039	uveal melanoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309117	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309117	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309117	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309117	Rab2b	RAB2B, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309119	Ppil1	peptidylprolyl isomerase like 1	gene	DOID:0060264	pontocerebellar hypoplasia		ISO	RGD:1319281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia	PMID:33220177
1309119	Ppil1	peptidylprolyl isomerase like 1	gene	DOID:0112325	pontocerebellar hypoplasia type 14		ISO	RGD:1319281	D	RGD:7240710	20210505	OMIM			
1309119	Ppil1	peptidylprolyl isomerase like 1	gene	DOID:0112325	pontocerebellar hypoplasia type 14		ISO	RGD:1319281	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 14 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 14	PMID:24033266|PMID:25741868|PMID:33220177
1309119	Ppil1	peptidylprolyl isomerase like 1	gene	DOID:0112325	pontocerebellar hypoplasia type 14		ISS	RGD:1319282	D	RGD:13592920	20230718	MouseDO		OMIM:619301	
1309119	Ppil1	peptidylprolyl isomerase like 1	gene	DOID:10907	microcephaly		ISS	RGD:1319282	D	RGD:13592920	20211028	MouseDO			
1309119	Ppil1	peptidylprolyl isomerase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309119	Ppil1	peptidylprolyl isomerase like 1	gene	DOID:630	genetic disease		ISO	RGD:1319281	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:31402090
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:0050581	brachydactyly		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:31402090
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:10534	stomach cancer		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:1324	lung cancer		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:2841	asthma		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:3070	high grade glioma		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:3082	interstitial lung disease		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Interstitial pneumonitis	PMID:25741868|PMID:31402090
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:9003225	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME		ISO	RGD:1319284	D	RGD:7240710	20201111	OMIM			
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:9003225	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME		ISO	RGD:1319284	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: FBXW11-related condition | ClinVar Annotator: match by term: FBXW11-related neurodevelopmental, brain, eye, and digit anomalies | ClinVar Annotator: match by term: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME | ClinVar Annotator: match by term: Neurodevelopmental, jaw, eye, and digital syndrome	PMID:25741868|PMID:28492532|PMID:31402090
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:9003816	Macrocephaly		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:31402090
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:31402090
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:9007661	Dwarfism		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:31402090
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31402090
1309121	Fbxw11	F-box and WD repeat domain containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309122	Hspb9	heat shock protein family B (small) member 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319285	D	RGD:11554173	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31546644
1309123	Mrpl46	mitochondrial ribosomal protein L46	gene	DOID:10283	prostate cancer		ISO	RGD:1319287	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309123	Mrpl46	mitochondrial ribosomal protein L46	gene	DOID:10283	prostate cancer		ISO	RGD:1319287	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309123	Mrpl46	mitochondrial ribosomal protein L46	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309123	Mrpl46	mitochondrial ribosomal protein L46	gene	DOID:4362	cervical cancer		ISO	RGD:1319287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309123	Mrpl46	mitochondrial ribosomal protein L46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309123	Mrpl46	mitochondrial ribosomal protein L46	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309124	Ttll1	TTL family tubulin polyglutamylase complex subunit L1	gene	DOID:1115	sarcoma		ISO	RGD:1319289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309124	Ttll1	TTL family tubulin polyglutamylase complex subunit L1	gene	DOID:3070	high grade glioma		ISO	RGD:1319289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309124	Ttll1	TTL family tubulin polyglutamylase complex subunit L1	gene	DOID:6039	uveal melanoma		ISO	RGD:1319289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309124	Ttll1	TTL family tubulin polyglutamylase complex subunit L1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309124	Ttll1	TTL family tubulin polyglutamylase complex subunit L1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309124	Ttll1	TTL family tubulin polyglutamylase complex subunit L1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309124	Ttll1	TTL family tubulin polyglutamylase complex subunit L1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309124	Ttll1	TTL family tubulin polyglutamylase complex subunit L1	gene	DOID:9562	primary ciliary dyskinesia		ISS	RGD:1319290	D	RGD:13592920	20180518	MouseDO			
1309125	Spcs1	signal peptidase complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1346470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309125	Spcs1	signal peptidase complex subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309125	Spcs1	signal peptidase complex subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309125	Spcs1	signal peptidase complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309125	Spcs1	signal peptidase complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309127	Fbxl16	F-box and leucine-rich repeat protein 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309127	Fbxl16	F-box and leucine-rich repeat protein 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309127	Fbxl16	F-box and leucine-rich repeat protein 16	gene	DOID:1115	sarcoma		ISO	RGD:1319294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309127	Fbxl16	F-box and leucine-rich repeat protein 16	gene	DOID:1909	melanoma		ISO	RGD:1319294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309127	Fbxl16	F-box and leucine-rich repeat protein 16	gene	DOID:3275	thymoma		ISO	RGD:1319294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309127	Fbxl16	F-box and leucine-rich repeat protein 16	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309127	Fbxl16	F-box and leucine-rich repeat protein 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309127	Fbxl16	F-box and leucine-rich repeat protein 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309127	Fbxl16	F-box and leucine-rich repeat protein 16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309128	Cnot6l	CCR4-NOT transcription complex, subunit 6-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309128	Cnot6l	CCR4-NOT transcription complex, subunit 6-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309128	Cnot6l	CCR4-NOT transcription complex, subunit 6-like	gene	DOID:10534	stomach cancer		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309128	Cnot6l	CCR4-NOT transcription complex, subunit 6-like	gene	DOID:1115	sarcoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309128	Cnot6l	CCR4-NOT transcription complex, subunit 6-like	gene	DOID:1909	melanoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309128	Cnot6l	CCR4-NOT transcription complex, subunit 6-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309128	Cnot6l	CCR4-NOT transcription complex, subunit 6-like	gene	DOID:3275	thymoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309128	Cnot6l	CCR4-NOT transcription complex, subunit 6-like	gene	DOID:4362	cervical cancer		ISO	RGD:1319296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309128	Cnot6l	CCR4-NOT transcription complex, subunit 6-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1319296	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309128	Cnot6l	CCR4-NOT transcription complex, subunit 6-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309128	Cnot6l	CCR4-NOT transcription complex, subunit 6-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309128	Cnot6l	CCR4-NOT transcription complex, subunit 6-like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309128	Cnot6l	CCR4-NOT transcription complex, subunit 6-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309128	Cnot6l	CCR4-NOT transcription complex, subunit 6-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:0112080	nuclear type mitochondrial complex I deficiency 32		ISO	RGD:1319298	D	RGD:7240710	20190315	OMIM			
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:0112080	nuclear type mitochondrial complex I deficiency 32		ISO	RGD:1319298	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 32 | ClinVar Annotator: match by term: NDUFB8-related condition	PMID:25741868|PMID:28492532|PMID:29429571
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319298	D	RGD:1358651|PMID:14570706	20181109	RGD			
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:1324	lung cancer		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:14330	Parkinson's disease		ISO	RGD:1319298	D	RGD:13504667|PMID:26605748	20180116	RGD			
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:3021	acute kidney failure		IEP		D	RGD:13801199|PMID:22160772	20181105	RGD			
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:37	skin disease		ISO	RGD:1319298	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:630	genetic disease		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:9004484	Sepsis		IDA		D	RGD:13801198|PMID:22952679	20181105	RGD			
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:9006223	Kidney Reperfusion Injury		IEP		D	RGD:13801197|PMID:24096033	20181105	RGD			
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1319299	D	RGD:13801199|PMID:22160772	20181105	RGD			
1309129	Ndufb8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1319298	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1309131	Cert1	ceramide transporter 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309131	Cert1	ceramide transporter 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309131	Cert1	ceramide transporter 1	gene	DOID:0070064	autosomal dominant intellectual developmental disorder 34		ISO	RGD:1319300	D	RGD:7240710	20170510	OMIM			
1309131	Cert1	ceramide transporter 1	gene	DOID:0070064	autosomal dominant intellectual developmental disorder 34		ISO	RGD:1319300	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CERT1-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 34 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 34 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SPEECH DELAY, AND DYSMORPHIC FACIES	PMID:25363768|PMID:25533962|PMID:25741868|PMID:28492532|PMID:34688657|PMID:36976648|PMID:37892645
1309131	Cert1	ceramide transporter 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309131	Cert1	ceramide transporter 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309131	Cert1	ceramide transporter 1	gene	DOID:11088	asphyxia neonatorum		IEP		D	RGD:156431056|PMID:23625371	20230302	RGD			
1309131	Cert1	ceramide transporter 1	gene	DOID:1115	sarcoma		ISO	RGD:1319300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309131	Cert1	ceramide transporter 1	gene	DOID:1826	epilepsy		ISO	RGD:1319300	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
1309131	Cert1	ceramide transporter 1	gene	DOID:1826	epilepsy		ISO	RGD:1319300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
1309131	Cert1	ceramide transporter 1	gene	DOID:1909	melanoma		ISO	RGD:1319300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309131	Cert1	ceramide transporter 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1319300	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427
1309131	Cert1	ceramide transporter 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319300	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309131	Cert1	ceramide transporter 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309131	Cert1	ceramide transporter 1	gene	DOID:630	genetic disease		ISO	RGD:1319300	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17442665|PMID:23033978|PMID:25356899|PMID:25533962|PMID:25741868|PMID:28135719
1309131	Cert1	ceramide transporter 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319300	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889|PMID:29942082
1309131	Cert1	ceramide transporter 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309131	Cert1	ceramide transporter 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309132	Ppp1r3c	protein phosphatase 1, regulatory subunit 3C	gene	DOID:10283	prostate cancer		ISO	RGD:1319302	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309132	Ppp1r3c	protein phosphatase 1, regulatory subunit 3C	gene	DOID:10283	prostate cancer		ISO	RGD:1319302	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309132	Ppp1r3c	protein phosphatase 1, regulatory subunit 3C	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319302	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309132	Ppp1r3c	protein phosphatase 1, regulatory subunit 3C	gene	DOID:9352	type 2 diabetes mellitus		ISS	RGD:1319303	D	RGD:13592920	20180518	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
1309133	Pkp3	plakophilin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309133	Pkp3	plakophilin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309133	Pkp3	plakophilin 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309133	Pkp3	plakophilin 3	gene	DOID:1115	sarcoma		ISO	RGD:1319304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309133	Pkp3	plakophilin 3	gene	DOID:1324	lung cancer		ISO	RGD:1319304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309133	Pkp3	plakophilin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309133	Pkp3	plakophilin 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309133	Pkp3	plakophilin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319304	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309133	Pkp3	plakophilin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309133	Pkp3	plakophilin 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1319306	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 1	PMID:20177705|PMID:20498079|PMID:25741868|PMID:28492532|PMID:37293956
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:0110126	Bardet-Biedl syndrome 4		ISO	RGD:1319306	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:0110126	Bardet-Biedl syndrome 4		ISO	RGD:1319306	D	RGD:7240710	20170531	OMIM			
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:0110126	Bardet-Biedl syndrome 4		ISO	RGD:1319306	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 4 | ClinVar Annotator: match by term: BBS4-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 4	PMID:11381270|PMID:12016587|PMID:12524598|PMID:12677556|PMID:12872256|PMID:15666242|PMID:16199547|PMID:17558852|PMID:17576681|PMID:19402160|PMID:19858128|PMID:20177705|PMID:20498079|PMID:23591405|PMID:25741868|PMID:26355662|PMID:26518167|PMID:27208204|PMID:27894351|PMID:28492532|PMID:29039417|PMID:31964843|PMID:31980526|PMID:32531858|PMID:33777945|PMID:35456422|PMID:35886001|PMID:9536098
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:0110126	Bardet-Biedl syndrome 4		ISS	RGD:1319307	D	RGD:13592920	20230718	MouseDO		OMIM:615982	
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:34906470
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:1115	sarcoma		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:28492532
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:11981	morbid obesity	susceptibility	ISO	RGD:1319306	D	RGD:1601311|PMID:17003356	20070416	RGD		DNA:SNPs	
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:1324	lung cancer		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:1909	melanoma		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1319306	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ARL6-related disorder | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:11381270|PMID:12016587|PMID:12524598|PMID:12677556|PMID:12872256|PMID:15654695|PMID:15666242|PMID:15770229|PMID:16199547|PMID:17558852|PMID:17576681|PMID:19402160|PMID:19797195|PMID:19858128|PMID:20177705|PMID:20498079|PMID:21344540|PMID:22219648|PMID:22353939|PMID:23432027|PMID:23591405|PMID:24849935|PMID:25640679|PMID:25741868|PMID:26489029|PMID:27208204|PMID:27486776|PMID:27894351|PMID:28492532|PMID:29039417|PMID:30614526|PMID:30718709|PMID:31964843|PMID:31980526|PMID:32483926|PMID:32531858|PMID:33777945|PMID:34906470|PMID:35318824|PMID:35456422|PMID:35886001|PMID:37293956|PMID:388431|PMID:7711739|PMID:9536098
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1319306	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl Syndrome | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:11381270|PMID:12016587|PMID:12677556|PMID:12872256|PMID:15666242|PMID:15690372|PMID:15770229|PMID:16199547|PMID:17558852|PMID:17576681|PMID:19797195|PMID:19858128|PMID:20177705|PMID:20498079|PMID:22219648|PMID:22353939|PMID:23432027|PMID:24849935|PMID:25640679|PMID:25741868|PMID:26355662|PMID:26489029|PMID:27486776|PMID:27894351|PMID:28425981|PMID:28492532|PMID:30614526|PMID:30718709|PMID:32483926|PMID:32531858|PMID:35318824|PMID:35886001|PMID:36460718|PMID:37293956|PMID:9536098
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:4362	cervical cancer		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:630	genetic disease		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:8466	retinal degeneration	severity	ISO	RGD:1319307	D	RGD:11537379|PMID:23943788	20161003	RGD			
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11381270|PMID:12016587|PMID:17576681|PMID:20177705|PMID:25741868|PMID:26355662|PMID:27894351|PMID:28492532|PMID:37031301|PMID:9536098
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9351	diabetes mellitus		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:28492532
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9452	steatotic liver disease		ISO	RGD:1319306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:28492532
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9970	obesity		ISS	RGD:1319307	D	RGD:13592920	20180518	MouseDO		OMIM:601665	
1309134	Bbs4	Bardet-Biedl syndrome 4	gene	DOID:9970	obesity	onset	ISO	RGD:1319306	D	RGD:1601311|PMID:17003356	20070416	RGD		DNA:SNPs	
1309135	Trappc3	trafficking protein particle complex subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309135	Trappc3	trafficking protein particle complex subunit 3	gene	DOID:0060058	lymphoma		ISO	RGD:1319308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309135	Trappc3	trafficking protein particle complex subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1319308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309135	Trappc3	trafficking protein particle complex subunit 3	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1319308	D	RGD:8554872	20161108	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	
1309135	Trappc3	trafficking protein particle complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309135	Trappc3	trafficking protein particle complex subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309138	Dtd2	D-aminoacyl-tRNA deacylase 2	gene	DOID:1115	sarcoma		ISO	RGD:1319312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309139	Cfap276	cilia and flagella associated protein 276	gene	DOID:0050543	Charcot-Marie-Tooth disease intermediate type		ISS	RGD:1319313	D	RGD:13592920	20201210	MouseDO			
1309139	Cfap276	cilia and flagella associated protein 276	gene	DOID:12365	malaria		ISO	RGD:1604538	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malaria, susceptibility to	
1309139	Cfap276	cilia and flagella associated protein 276	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309140	Nmnat3	nicotinamide nucleotide adenylyltransferase 3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1319314	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1309140	Nmnat3	nicotinamide nucleotide adenylyltransferase 3	gene	DOID:1686	glaucoma	treatment	IDA		D	RGD:13782046|PMID:24136224	20180815	RGD			
1309140	Nmnat3	nicotinamide nucleotide adenylyltransferase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309140	Nmnat3	nicotinamide nucleotide adenylyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:0070347	encephalopathy due to defective mitochondrial and peroxisomal fission 1		ISO	RGD:1319316	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	PMID:25741868
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:10534	stomach cancer		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:1059	intellectual disability		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, profound	PMID:25741868
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:1824	status epilepticus		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:1909	melanoma		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:2234	focal epilepsy		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:4362	cervical cancer		ISO	RGD:1319316	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319316	D	RGD:41404644|PMID:21763455	20210129	RGD		mRNA:increased expression:blood	
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1319316	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309141	Osbpl7	oxysterol binding protein-like 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309142	Nfat5	nuclear factor of activated T-cells 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1309142	Nfat5	nuclear factor of activated T-cells 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309142	Nfat5	nuclear factor of activated T-cells 5	gene	DOID:0060031	autoimmune disease of gastrointestinal tract		ISO	RGD:1319318	D	RGD:8554872	20221213	ClinVar		ClinVar Annotator: match by term: Immunodeficiency and Autoimmune Enterocolopathy	PMID:28492532
1309142	Nfat5	nuclear factor of activated T-cells 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309142	Nfat5	nuclear factor of activated T-cells 5	gene	DOID:1115	sarcoma		ISO	RGD:1319318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309142	Nfat5	nuclear factor of activated T-cells 5	gene	DOID:1324	lung cancer		ISO	RGD:1319318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309142	Nfat5	nuclear factor of activated T-cells 5	gene	DOID:3070	high grade glioma		ISO	RGD:1319318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28492532
1309142	Nfat5	nuclear factor of activated T-cells 5	gene	DOID:3275	thymoma		ISO	RGD:1319318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309142	Nfat5	nuclear factor of activated T-cells 5	gene	DOID:4362	cervical cancer		ISO	RGD:1319318	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309142	Nfat5	nuclear factor of activated T-cells 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1319318	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1309142	Nfat5	nuclear factor of activated T-cells 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309142	Nfat5	nuclear factor of activated T-cells 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309142	Nfat5	nuclear factor of activated T-cells 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309143	Dlk2	delta like non-canonical Notch ligand 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309143	Dlk2	delta like non-canonical Notch ligand 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309143	Dlk2	delta like non-canonical Notch ligand 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309143	Dlk2	delta like non-canonical Notch ligand 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309144	Thnsl2	threonine synthase-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605368	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309144	Thnsl2	threonine synthase-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309144	Thnsl2	threonine synthase-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1605368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309144	Thnsl2	threonine synthase-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1605368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309144	Thnsl2	threonine synthase-like 2	gene	DOID:3275	thymoma		ISO	RGD:1605368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309144	Thnsl2	threonine synthase-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309144	Thnsl2	threonine synthase-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309144	Thnsl2	threonine synthase-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309144	Thnsl2	threonine synthase-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309145	Ttf2	transcription termination factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309145	Ttf2	transcription termination factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309145	Ttf2	transcription termination factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309145	Ttf2	transcription termination factor 2	gene	DOID:14780	KBG syndrome		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KBG syndrome	PMID:25741868
1309145	Ttf2	transcription termination factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309145	Ttf2	transcription termination factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309145	Ttf2	transcription termination factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309145	Ttf2	transcription termination factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309145	Ttf2	transcription termination factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309145	Ttf2	transcription termination factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309145	Ttf2	transcription termination factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309145	Ttf2	transcription termination factor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1319323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309146	Zfp622	zinc finger protein 622	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309146	Zfp622	zinc finger protein 622	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309146	Zfp622	zinc finger protein 622	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309146	Zfp622	zinc finger protein 622	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309146	Zfp622	zinc finger protein 622	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309146	Zfp622	zinc finger protein 622	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309146	Zfp622	zinc finger protein 622	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309146	Zfp622	zinc finger protein 622	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:0110004	3-methylglutaconic aciduria type 3		ISO	RGD:1319326	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:0110004	3-methylglutaconic aciduria type 3		ISO	RGD:1319326	D	RGD:7240710	20130731	OMIM			
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:0110004	3-methylglutaconic aciduria type 3		ISO	RGD:1319326	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE	PMID:11668429|PMID:15342707|PMID:15902555|PMID:17576681|PMID:18985435|PMID:20301646|PMID:20350831|PMID:22797356|PMID:24136862|PMID:24749080|PMID:25159689|PMID:25201222|PMID:25205859|PMID:25741868|PMID:26190011|PMID:27528516|PMID:27629047|PMID:28081242|PMID:28492532|PMID:31119193|PMID:31928268|PMID:9536098
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:0110004	3-methylglutaconic aciduria type 3		ISS	RGD:1622768	D	RGD:13592920	20230718	MouseDO		OMIM:258501	
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:0111433	optic atrophy 3		ISO	RGD:1319326	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:0111433	optic atrophy 3		ISO	RGD:1319326	D	RGD:7240710	20130731	OMIM			
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:0111433	optic atrophy 3		ISO	RGD:1319326	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Optic atrophy 3 | ClinVar Annotator: match by term: Optic atrophy 3 with cataract	PMID:13703570|PMID:15342707|PMID:17576681|PMID:20301646|PMID:25741868|PMID:28081242|PMID:28492532|PMID:9536098
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:10534	stomach cancer		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:11155	hypohidrosis		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:11830	myopia		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:2841	asthma		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:480	movement disease		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:5723	optic atrophy		ISO	RGD:1319326	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:630	genetic disease		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:7998	hyperthyroidism		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:9001733	Tinnitus		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:1319326	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Foveal hypoplasia	PMID:31696227
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:9003539	Hyperacusis		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:9005077	Joint Instability		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:9007736	Vertigo		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:9008023	Memory Disorders		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1309147	Opa3	outer mitochondrial membrane lipid metabolism regulator OPA3	gene	DOID:9834	hyperopia		ISO	RGD:1319326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1309149	Ccnl2	cyclin L2	gene	DOID:10534	stomach cancer		ISO	RGD:1319329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309149	Ccnl2	cyclin L2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309149	Ccnl2	cyclin L2	gene	DOID:1324	lung cancer		ISO	RGD:1319329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309149	Ccnl2	cyclin L2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309149	Ccnl2	cyclin L2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319329	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309149	Ccnl2	cyclin L2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309149	Ccnl2	cyclin L2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309149	Ccnl2	cyclin L2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309149	Ccnl2	cyclin L2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309149	Ccnl2	cyclin L2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309150	Drc3	dynein regulatory complex subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309150	Drc3	dynein regulatory complex subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1606494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309150	Drc3	dynein regulatory complex subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1606494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309150	Drc3	dynein regulatory complex subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606494	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309150	Drc3	dynein regulatory complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309150	Drc3	dynein regulatory complex subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309150	Drc3	dynein regulatory complex subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309151	Smndc1	survival motor neuron domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309151	Smndc1	survival motor neuron domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1319332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309151	Smndc1	survival motor neuron domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309151	Smndc1	survival motor neuron domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309152	Jade2	jade family PHD finger 2	gene	DOID:12849	autistic disorder		ISO	RGD:1319333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1309152	Jade2	jade family PHD finger 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319333	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1309152	Jade2	jade family PHD finger 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1309152	Jade2	jade family PHD finger 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1319333	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
1309153	Smyd5	SMYD family member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309153	Smyd5	SMYD family member 5	gene	DOID:0060058	lymphoma		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309153	Smyd5	SMYD family member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309153	Smyd5	SMYD family member 5	gene	DOID:1909	melanoma		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309153	Smyd5	SMYD family member 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309153	Smyd5	SMYD family member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309153	Smyd5	SMYD family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309153	Smyd5	SMYD family member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309153	Smyd5	SMYD family member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309153	Smyd5	SMYD family member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309154	Cst7	cystatin F	gene	DOID:0080600	COVID-19		ISO	RGD:1342542	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309154	Cst7	cystatin F	gene	DOID:5041	esophageal cancer		ISO	RGD:1342542	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309154	Cst7	cystatin F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309154	Cst7	cystatin F	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1342542	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
1309154	Cst7	cystatin F	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:0050741	alcohol dependence		IEP		D	RGD:401976487|PMID:27709495	20240228	RGD		associated with stress-related disorder;mRNA:affects expression:ventral tegmental area,cingulate cortex, nucleus accumbens( rat)	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:0050741	alcohol dependence		ISO	RGD:1319339	D	RGD:401976484|PMID:27527158	20240227	RGD			
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1319338	D	RGD:401976484|PMID:27527158	20240227	RGD		DNA:SNPs:intron,3'utr: (rs1360780, rs3800373)	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1319338	D	RGD:401976487|PMID:27709495	20240228	RGD		associated with stress-related disorder;DNA:SNP:: (rs1360780) (human)	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:1319338	D	RGD:9068941	20240229	RGD		mRNA,protein:incrased expression:liver (human)	PMID:33710653|REF_RGD_ID:401976495
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	ameliorates	ISO	RGD:1319339	D	RGD:9068941	20240229	RGD			PMID:33710653|REF_RGD_ID:401976495
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:1319338	D	RGD:401976495|PMID:33710653	20240228	RGD		mRNA,protein:incrased expression:liver (human)	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:0070658	alcohol-associated liver disease	ameliorates	ISO	RGD:1319339	D	RGD:401976495|PMID:33710653	20240228	RGD			
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:0080600	COVID-19		ISO	RGD:1319338	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:1470	major depressive disorder		ISO	RGD:1319338	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:1470	major depressive disorder		ISO	RGD:1319338	D	RGD:7240710	20130221	OMIM			
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:1470	major depressive disorder		ISO	RGD:1319338	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MAJOR DEPRESSIVE DISORDER, INCREASED RECURRENCE OF DEPRESSIVE EPISODES IN, SUSCEPTIBILITY TO	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:1470	major depressive disorder	susceptibility	ISO	RGD:1319338	D	RGD:401976504|PMID:20090668	20240228	RGD		associated with Trauma and Stressor Related Disorders; DNA:SNPs,haplotypes:multiple	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:2055	post-traumatic stress disorder		ISO	RGD:1319338	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Post-traumatic stress disorder	PMID:18349090
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:2841	asthma		ISO	RGD:1319338	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Asthma	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:289	endometriosis		ISO	RGD:1319338	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:3070	high grade glioma		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:1319338	D	RGD:628360901|PMID:31022961	20251002	RGD		DNA:SNP: :rs4713916	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:3275	thymoma		ISO	RGD:1319338	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319338	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12833524
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:809	cocaine abuse	sexual_dimorphism	IEP		D	RGD:401976486|PMID:31029877	20240227	RGD		mRNA:increased expression:brain (rat)	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1319338	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25115650
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:9002735	alcohol withdrawal syndrome	severity	ISO	RGD:1319338	D	RGD:401976481|PMID:24603855	20240227	RGD		DNA:SNPs,haplotypes:multiple	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:9003548	Infant, Newborn, Diseases		ISO	RGD:1319338	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25115650
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309155	Fkbp5	FKBP prolyl isomerase 5	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:1319338	D	RGD:401976498|PMID:24845178	20240228	RGD		DNA:SNPs:intron,3'utr: (rs1360780,rs3800373) (human)	
1309156	Ankrd13d	ankyrin repeat domain 13D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309156	Ankrd13d	ankyrin repeat domain 13D	gene	DOID:4362	cervical cancer		ISO	RGD:1605234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309156	Ankrd13d	ankyrin repeat domain 13D	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309156	Ankrd13d	ankyrin repeat domain 13D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309156	Ankrd13d	ankyrin repeat domain 13D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309156	Ankrd13d	ankyrin repeat domain 13D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309156	Ankrd13d	ankyrin repeat domain 13D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309156	Ankrd13d	ankyrin repeat domain 13D	gene	DOID:9256	colorectal cancer		ISO	RGD:1605234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309157	Cdc6	cell division cycle 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309157	Cdc6	cell division cycle 6	gene	DOID:0060306	Meier-Gorlin syndrome		ISO	RGD:1319341	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21358632
1309157	Cdc6	cell division cycle 6	gene	DOID:0080516	Meier-Gorlin syndrome 5		ISO	RGD:1319341	D	RGD:7240710	20190424	OMIM			
1309157	Cdc6	cell division cycle 6	gene	DOID:0080516	Meier-Gorlin syndrome 5		ISO	RGD:1319341	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDC6-related condition | ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 5 | ClinVar Annotator: match by term: Meier-Gorlin syndrome 5	PMID:25741868|PMID:28492532
1309157	Cdc6	cell division cycle 6	gene	DOID:0080600	COVID-19		ISO	RGD:1319341	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309157	Cdc6	cell division cycle 6	gene	DOID:10907	microcephaly		ISO	RGD:1319341	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1309157	Cdc6	cell division cycle 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309157	Cdc6	cell division cycle 6	gene	DOID:1115	sarcoma		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309157	Cdc6	cell division cycle 6	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1319341	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1309157	Cdc6	cell division cycle 6	gene	DOID:1909	melanoma		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309157	Cdc6	cell division cycle 6	gene	DOID:3070	high grade glioma		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309157	Cdc6	cell division cycle 6	gene	DOID:4362	cervical cancer		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309157	Cdc6	cell division cycle 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309157	Cdc6	cell division cycle 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309157	Cdc6	cell division cycle 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319341	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1309157	Cdc6	cell division cycle 6	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1309157	Cdc6	cell division cycle 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309157	Cdc6	cell division cycle 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309157	Cdc6	cell division cycle 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309157	Cdc6	cell division cycle 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309158	Zfp655	zinc finger protein 655	gene	DOID:1324	lung cancer		ISO	RGD:1351627	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309158	Zfp655	zinc finger protein 655	gene	DOID:5041	esophageal cancer		ISO	RGD:1351627	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309158	Zfp655	zinc finger protein 655	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309158	Zfp655	zinc finger protein 655	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309162	Gpr155	G protein-coupled receptor 155	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309162	Gpr155	G protein-coupled receptor 155	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309162	Gpr155	G protein-coupled receptor 155	gene	DOID:1115	sarcoma		ISO	RGD:1319348	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309162	Gpr155	G protein-coupled receptor 155	gene	DOID:12849	autistic disorder		ISO	RGD:1319348	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17519220
1309162	Gpr155	G protein-coupled receptor 155	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309162	Gpr155	G protein-coupled receptor 155	gene	DOID:3070	high grade glioma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309162	Gpr155	G protein-coupled receptor 155	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309162	Gpr155	G protein-coupled receptor 155	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309162	Gpr155	G protein-coupled receptor 155	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309162	Gpr155	G protein-coupled receptor 155	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319348	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309162	Gpr155	G protein-coupled receptor 155	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309162	Gpr155	G protein-coupled receptor 155	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1319348	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1309162	Gpr155	G protein-coupled receptor 155	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309163	Ago3	argonaute RISC catalytic component 3	gene	DOID:0060058	lymphoma		ISO	RGD:1319350	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309163	Ago3	argonaute RISC catalytic component 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309163	Ago3	argonaute RISC catalytic component 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1309163	Ago3	argonaute RISC catalytic component 3	gene	DOID:1115	sarcoma		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309163	Ago3	argonaute RISC catalytic component 3	gene	DOID:1324	lung cancer		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309163	Ago3	argonaute RISC catalytic component 3	gene	DOID:1909	melanoma		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309163	Ago3	argonaute RISC catalytic component 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319350	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309163	Ago3	argonaute RISC catalytic component 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319350	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309163	Ago3	argonaute RISC catalytic component 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309163	Ago3	argonaute RISC catalytic component 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309163	Ago3	argonaute RISC catalytic component 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309163	Ago3	argonaute RISC catalytic component 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1309164	Mrps7	mitochondrial ribosomal protein S7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319351	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309164	Mrps7	mitochondrial ribosomal protein S7	gene	DOID:0111497	combined oxidative phosphorylation deficiency 34		ISO	RGD:1319351	D	RGD:7240710	20190315	OMIM			
1309164	Mrps7	mitochondrial ribosomal protein S7	gene	DOID:0111497	combined oxidative phosphorylation deficiency 34		ISO	RGD:1319351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 | ClinVar Annotator: match by term: MRPS7-related condition	PMID:25741868|PMID:28492532
1309164	Mrps7	mitochondrial ribosomal protein S7	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1319351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1309164	Mrps7	mitochondrial ribosomal protein S7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309164	Mrps7	mitochondrial ribosomal protein S7	gene	DOID:6039	uveal melanoma		ISO	RGD:1319351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
1309164	Mrps7	mitochondrial ribosomal protein S7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1309164	Mrps7	mitochondrial ribosomal protein S7	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319351	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
1309164	Mrps7	mitochondrial ribosomal protein S7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1309165	Cldn14	claudin 14	gene	DOID:0110487	autosomal recessive nonsyndromic deafness 29		ISO	RGD:1319353	D	RGD:7240710	20140911	OMIM			
1309165	Cldn14	claudin 14	gene	DOID:0110487	autosomal recessive nonsyndromic deafness 29		ISS	RGD:1319354	D	RGD:13592920	20230718	MouseDO		OMIM:614035	
1309165	Cldn14	claudin 14	gene	DOID:9002315	Kidney Calculi		ISO	RGD:1319353	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19561606
1309165	Cldn14	claudin 14	gene	DOID:9002802	Acidoses		IEP		D	RGD:1600867|PMID:17383680	20070328	RGD		mRNA:increased expression:duodenum	
1309165	Cldn14	claudin 14	gene	DOID:9003178	Familial Platelet Disorder with Associated Myeloid Malignancy		ISO	RGD:151796458	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	PMID:17237124|PMID:23512985|PMID:28492532
1309165	Cldn14	claudin 14	gene	DOID:9008681	Deafness		ISO	RGD:1319353	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11163249
1309165	Cldn14	claudin 14	gene	DOID:9008681	Deafness	susceptibility	ISO	RGD:1319353	D	RGD:1600866|PMID:11163249	20070328	RGD		DNA:deletion, missense mutation: :398delT, p.V85D	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:1604572	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:36708882
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:3275	thymoma		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1604572	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604572	D	RGD:15003194|PMID:27338800	20191107	RGD		protein:increased expression:liver	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604572	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26806094
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309166	Nlrc5	NLR family, CARD domain containing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:1024	leprosy		ISO	RGD:1319357	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Leprosy, susceptibility to, 1	
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:1319357	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:20452301
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309167	Ripk2	receptor-interacting serine-threonine kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309168	Trim45	tripartite motif-containing 45	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319359	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309168	Trim45	tripartite motif-containing 45	gene	DOID:10534	stomach cancer		ISO	RGD:1319359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309168	Trim45	tripartite motif-containing 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309168	Trim45	tripartite motif-containing 45	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309168	Trim45	tripartite motif-containing 45	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309168	Trim45	tripartite motif-containing 45	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309168	Trim45	tripartite motif-containing 45	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309170	C2h4orf17	similar to human chromosome 4 open reading frame 17	gene	DOID:1115	sarcoma		ISO	RGD:1352720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309170	C2h4orf17	similar to human chromosome 4 open reading frame 17	gene	DOID:3275	thymoma		ISO	RGD:1352720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309170	C2h4orf17	similar to human chromosome 4 open reading frame 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1352720	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309172	Col6a6	collagen type VI alpha 6 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:3052729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309172	Col6a6	collagen type VI alpha 6 chain	gene	DOID:0081337	congenital myopathy		ISO	RGD:3052729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868
1309172	Col6a6	collagen type VI alpha 6 chain	gene	DOID:10534	stomach cancer		ISO	RGD:3052729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309172	Col6a6	collagen type VI alpha 6 chain	gene	DOID:1909	melanoma		ISO	RGD:3052729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309172	Col6a6	collagen type VI alpha 6 chain	gene	DOID:3275	thymoma		ISO	RGD:3052729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309172	Col6a6	collagen type VI alpha 6 chain	gene	DOID:4362	cervical cancer		ISO	RGD:3052729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309172	Col6a6	collagen type VI alpha 6 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:3052729	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309172	Col6a6	collagen type VI alpha 6 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:3052729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309172	Col6a6	collagen type VI alpha 6 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3052729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309172	Col6a6	collagen type VI alpha 6 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:3052729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309172	Col6a6	collagen type VI alpha 6 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:3052729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309174	Rgr	retinal G protein coupled receptor	gene	DOID:0110394	retinitis pigmentosa 44		ISO	RGD:1319366	D	RGD:7240710	20140911	OMIM			
1309174	Rgr	retinal G protein coupled receptor	gene	DOID:0110394	retinitis pigmentosa 44		ISO	RGD:1319366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 44 | ClinVar Annotator: match by term: RGR-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 44	PMID:10581022|PMID:25741868|PMID:27623334|PMID:28041643|PMID:28492532|PMID:28838317|PMID:30337596|PMID:30347075|PMID:31964843|PMID:32531858|PMID:34229535|PMID:38219857
1309174	Rgr	retinal G protein coupled receptor	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319366	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10581022|PMID:16968212
1309174	Rgr	retinal G protein coupled receptor	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319366	D	RGD:1599623|PMID:10581022	20070208	RGD			
1309174	Rgr	retinal G protein coupled receptor	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10581022|PMID:28492532
1309174	Rgr	retinal G protein coupled receptor	gene	DOID:5723	optic atrophy		ISO	RGD:1319366	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1309174	Rgr	retinal G protein coupled receptor	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319366	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10581022|PMID:22995991|PMID:24265693|PMID:25741868|PMID:28492532|PMID:31429209|PMID:32483926|PMID:34426522
1309175	Mad2l1bp	MAD2L1 binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309175	Mad2l1bp	MAD2L1 binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309175	Mad2l1bp	MAD2L1 binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1319368	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309175	Mad2l1bp	MAD2L1 binding protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319368	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309175	Mad2l1bp	MAD2L1 binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309175	Mad2l1bp	MAD2L1 binding protein	gene	DOID:905	Zellweger syndrome		ISO	RGD:1319368	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
1309176	Erp44	endoplasmic reticulum protein 44	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309176	Erp44	endoplasmic reticulum protein 44	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309176	Erp44	endoplasmic reticulum protein 44	gene	DOID:10534	stomach cancer		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309176	Erp44	endoplasmic reticulum protein 44	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309176	Erp44	endoplasmic reticulum protein 44	gene	DOID:1909	melanoma		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309176	Erp44	endoplasmic reticulum protein 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309176	Erp44	endoplasmic reticulum protein 44	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319370	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1309176	Erp44	endoplasmic reticulum protein 44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309176	Erp44	endoplasmic reticulum protein 44	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:0110989	Joubert syndrome 20		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 20	PMID:25741868
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:25741868|PMID:28492532
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:0111116	nephronophthisis 7		ISO	RGD:1345602	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:0111116	nephronophthisis 7		ISO	RGD:1345602	D	RGD:7240710	20130221	OMIM			
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:0111116	nephronophthisis 7		ISO	RGD:1345602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLIS2-related condition | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 7 | ClinVar Annotator: match by term: Nephronophthisis 7	PMID:25741868|PMID:28492532
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:0111116	nephronophthisis 7		ISS	RGD:1319372	D	RGD:13592920	20230718	MouseDO		OMIM:611498	
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:1115	sarcoma		ISO	RGD:1345602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:12712	nephronophthisis		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:25741868|PMID:28492532|PMID:34917135
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:12712	nephronophthisis		ISO	RGD:1345602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:25741868|PMID:28492532
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:3070	high grade glioma		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:557	kidney disease		ISO	RGD:1345602	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17618285
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:783	end stage renal disease		ISO	RGD:1345602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309177	Glis2	GLIS family zinc finger 2	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1345602	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1309178	Upf2	UPF2, regulator of nonsense mediated mRNA decay	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319373	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1309178	Upf2	UPF2, regulator of nonsense mediated mRNA decay	gene	DOID:10534	stomach cancer		ISO	RGD:1319373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309178	Upf2	UPF2, regulator of nonsense mediated mRNA decay	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309178	Upf2	UPF2, regulator of nonsense mediated mRNA decay	gene	DOID:1909	melanoma		ISO	RGD:1319373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309178	Upf2	UPF2, regulator of nonsense mediated mRNA decay	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309178	Upf2	UPF2, regulator of nonsense mediated mRNA decay	gene	DOID:4362	cervical cancer		ISO	RGD:1319373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309178	Upf2	UPF2, regulator of nonsense mediated mRNA decay	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309178	Upf2	UPF2, regulator of nonsense mediated mRNA decay	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309178	Upf2	UPF2, regulator of nonsense mediated mRNA decay	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309178	Upf2	UPF2, regulator of nonsense mediated mRNA decay	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309179	Hoxd1	homeo box D1	gene	DOID:10534	stomach cancer		ISO	RGD:1319375	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309179	Hoxd1	homeo box D1	gene	DOID:9000641	Pain		ISO	RGD:1319375	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21151121
1309179	Hoxd1	homeo box D1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1319375	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21151121
1309179	Hoxd1	homeo box D1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1319375	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20852632
1309179	Hoxd1	homeo box D1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319375	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
1309181	Wdr47	WD repeat domain 47	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309181	Wdr47	WD repeat domain 47	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1343602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868|PMID:39609633
1309181	Wdr47	WD repeat domain 47	gene	DOID:10534	stomach cancer		ISO	RGD:1343602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309181	Wdr47	WD repeat domain 47	gene	DOID:1115	sarcoma		ISO	RGD:1343602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309181	Wdr47	WD repeat domain 47	gene	DOID:1324	lung cancer		ISO	RGD:1343602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309181	Wdr47	WD repeat domain 47	gene	DOID:4362	cervical cancer		ISO	RGD:1343602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309181	Wdr47	WD repeat domain 47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309181	Wdr47	WD repeat domain 47	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309181	Wdr47	WD repeat domain 47	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343602	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1309181	Wdr47	WD repeat domain 47	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309181	Wdr47	WD repeat domain 47	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309183	Anks1a	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309183	Anks1a	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309183	Anks1a	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309183	Anks1a	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:1324	lung cancer		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309183	Anks1a	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:1909	melanoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309183	Anks1a	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309183	Anks1a	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:3393	coronary artery disease		ISO	RGD:1319381	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990
1309183	Anks1a	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309183	Anks1a	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309183	Anks1a	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1319381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309183	Anks1a	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309183	Anks1a	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309183	Anks1a	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309183	Anks1a	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309184	Mppe1	metallophosphoesterase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309184	Mppe1	metallophosphoesterase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309184	Mppe1	metallophosphoesterase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309184	Mppe1	metallophosphoesterase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309184	Mppe1	metallophosphoesterase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:0060428	SATB2-associated syndrome		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome	PMID:25741868
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:3275	thymoma		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319385	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28097321|PMID:28940097|PMID:30552426
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:9009362	Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures		ISO	RGD:1319385	D	RGD:7240710	20250730	OMIM			
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:9009362	Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures		ISO	RGD:1319385	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, BRAIN ANOMALIES, AND SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures	PMID:25741868|PMID:39636576|PMID:41826713
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309185	Gtf3c3	general transcription factor IIIC subunit 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1319385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309186	Mastl	microtubule associated serine/threonine kinase-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309186	Mastl	microtubule associated serine/threonine kinase-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309186	Mastl	microtubule associated serine/threonine kinase-like	gene	DOID:1115	sarcoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309186	Mastl	microtubule associated serine/threonine kinase-like	gene	DOID:1588	thrombocytopenia		ISO	RGD:1319386	D	RGD:1598951|PMID:12890928	20070105	RGD			
1309186	Mastl	microtubule associated serine/threonine kinase-like	gene	DOID:1588	thrombocytopenia		ISO	RGD:1319386	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532
1309186	Mastl	microtubule associated serine/threonine kinase-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309186	Mastl	microtubule associated serine/threonine kinase-like	gene	DOID:3070	high grade glioma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309186	Mastl	microtubule associated serine/threonine kinase-like	gene	DOID:4362	cervical cancer		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309186	Mastl	microtubule associated serine/threonine kinase-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1319386	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309186	Mastl	microtubule associated serine/threonine kinase-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309186	Mastl	microtubule associated serine/threonine kinase-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309186	Mastl	microtubule associated serine/threonine kinase-like	gene	DOID:9003390	Thrombocytopenia 2		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia 2	PMID:25741868
1309186	Mastl	microtubule associated serine/threonine kinase-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309187	Bri3	brain protein I3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309187	Bri3	brain protein I3	gene	DOID:10534	stomach cancer		ISO	RGD:1319388	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309187	Bri3	brain protein I3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309187	Bri3	brain protein I3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309187	Bri3	brain protein I3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309188	Timm29	translocase of inner mitochondrial membrane 29	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309189	Fndc7	fibronectin type III domain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309189	Fndc7	fibronectin type III domain containing 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309190	Msh4	mutS homolog 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309190	Msh4	mutS homolog 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309190	Msh4	mutS homolog 4	gene	DOID:0070164	spermatogenic failure 2		ISO	RGD:1319392	D	RGD:7240710	20220706	OMIM			
1309190	Msh4	mutS homolog 4	gene	DOID:0070164	spermatogenic failure 2		ISO	RGD:1319392	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 2 | ClinVar Annotator: match by term: Spermatogenic failure 2	PMID:25741868|PMID:33448284
1309190	Msh4	mutS homolog 4	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1319392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
1309190	Msh4	mutS homolog 4	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1319392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
1309190	Msh4	mutS homolog 4	gene	DOID:10534	stomach cancer		ISO	RGD:1319392	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309190	Msh4	mutS homolog 4	gene	DOID:1115	sarcoma		ISO	RGD:1319392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309190	Msh4	mutS homolog 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309190	Msh4	mutS homolog 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309190	Msh4	mutS homolog 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309190	Msh4	mutS homolog 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1319392	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309190	Msh4	mutS homolog 4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1319392	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
1309190	Msh4	mutS homolog 4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1319392	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:35090489
1309190	Msh4	mutS homolog 4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1319392	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868|PMID:35090489
1309190	Msh4	mutS homolog 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309190	Msh4	mutS homolog 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309190	Msh4	mutS homolog 4	gene	DOID:630	genetic disease		ISO	RGD:1319392	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	
1309190	Msh4	mutS homolog 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309190	Msh4	mutS homolog 4	gene	DOID:9002716	Primary Ovarian Insufficiency 20		ISO	RGD:1319392	D	RGD:7240710	20220720	OMIM			
1309190	Msh4	mutS homolog 4	gene	DOID:9002716	Primary Ovarian Insufficiency 20		ISO	RGD:1319392	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 20 | ClinVar Annotator: match by term: Premature ovarian failure 20	PMID:25741868
1309190	Msh4	mutS homolog 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309190	Msh4	mutS homolog 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309191	Tbc1d10b	TBC1 domain family, member 10b	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:405877738	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28492532
1309191	Tbc1d10b	TBC1 domain family, member 10b	gene	DOID:3070	high grade glioma		ISO	RGD:1607066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309191	Tbc1d10b	TBC1 domain family, member 10b	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309192	Sdsl	serine dehydratase-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309192	Sdsl	serine dehydratase-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309192	Sdsl	serine dehydratase-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309192	Sdsl	serine dehydratase-like	gene	DOID:1115	sarcoma		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309192	Sdsl	serine dehydratase-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309192	Sdsl	serine dehydratase-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309192	Sdsl	serine dehydratase-like	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309192	Sdsl	serine dehydratase-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309193	Slc7a6	solute carrier family 7 member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309193	Slc7a6	solute carrier family 7 member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1319397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309193	Slc7a6	solute carrier family 7 member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309193	Slc7a6	solute carrier family 7 member 6	gene	DOID:3275	thymoma		ISO	RGD:1319397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309193	Slc7a6	solute carrier family 7 member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1319397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309193	Slc7a6	solute carrier family 7 member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1319397	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309193	Slc7a6	solute carrier family 7 member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309193	Slc7a6	solute carrier family 7 member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309193	Slc7a6	solute carrier family 7 member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309193	Slc7a6	solute carrier family 7 member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309195	Malt1	MALT1 paracaspase	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1319401	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21173233
1309195	Malt1	MALT1 paracaspase	gene	DOID:0060058	lymphoma		ISO	RGD:1319401	D	RGD:1599913|PMID:10523859	20070221	RGD			
1309195	Malt1	MALT1 paracaspase	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1319401	D	RGD:1599912|PMID:12560219	20070221	RGD			
1309195	Malt1	MALT1 paracaspase	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1319401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1309195	Malt1	MALT1 paracaspase	gene	DOID:0111988	immunodeficiency 12		ISO	RGD:1319401	D	RGD:7240710	20140911	OMIM			
1309195	Malt1	MALT1 paracaspase	gene	DOID:0111988	immunodeficiency 12		ISO	RGD:1319401	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 12 | ClinVar Annotator: match by term: Immunodeficiency 12	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23727036|PMID:25627829|PMID:25741868|PMID:27068814|PMID:28492532|PMID:35079916|PMID:9536098
1309195	Malt1	MALT1 paracaspase	gene	DOID:10534	stomach cancer		ISO	RGD:1319401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309195	Malt1	MALT1 paracaspase	gene	DOID:1324	lung cancer		ISO	RGD:1319401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309195	Malt1	MALT1 paracaspase	gene	DOID:1909	melanoma		ISO	RGD:1319401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309195	Malt1	MALT1 paracaspase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309195	Malt1	MALT1 paracaspase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309195	Malt1	MALT1 paracaspase	gene	DOID:4362	cervical cancer		ISO	RGD:1319401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309195	Malt1	MALT1 paracaspase	gene	DOID:5041	esophageal cancer		ISO	RGD:1319401	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309195	Malt1	MALT1 paracaspase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309195	Malt1	MALT1 paracaspase	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1319401	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	
1309195	Malt1	MALT1 paracaspase	gene	DOID:630	genetic disease		ISO	RGD:1319401	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309195	Malt1	MALT1 paracaspase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309196	Foxo3	forkhead box O3	gene	DOID:0050902	medulloblastoma		ISO	RGD:1319403	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA	
1309196	Foxo3	forkhead box O3	gene	DOID:0080147	lymphoblastic lymphoma		ISO	RGD:1553155	D	RGD:155630604|PMID:17254969	20221025	RGD			
1309196	Foxo3	forkhead box O3	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1319403	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1309196	Foxo3	forkhead box O3	gene	DOID:10283	prostate cancer		ISO	RGD:1319403	D	RGD:2301729|PMID:18336616	20081030	RGD		mRNA:decreased expression:tumor:lower in tumor vs adjacent normal tissue (p<0.05 compared to at least one housekeeping gene) (human)	
1309196	Foxo3	forkhead box O3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319403	D	RGD:10402185|PMID:23153928	20151019	RGD		protein:increased expression:lymphoblast,nucleus:	
1309196	Foxo3	forkhead box O3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319403	D	RGD:7327146|PMID:23585551	20151020	RGD		mRNA:increased expression:brain:	
1309196	Foxo3	forkhead box O3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1553155	D	RGD:10402187|PMID:23661003	20151019	RGD		protein:altered expression:cortical neuron,nucleus:	
1309196	Foxo3	forkhead box O3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1553155	D	RGD:11061905|PMID:28157684	20211120	RGD		protein:increased expression:hippocampal neuron (mouse)	
1309196	Foxo3	forkhead box O3	gene	DOID:1824	status epilepticus		ISO	RGD:1553155	D	RGD:10402198|PMID:23278239	20151020	RGD		protein:decreased expression:hippocampus,mitochondrion:	
1309196	Foxo3	forkhead box O3	gene	DOID:255	hemangioma		ISO	RGD:1553155	D	RGD:155630604|PMID:17254969	20221025	RGD			
1309196	Foxo3	forkhead box O3	gene	DOID:2870	endometrial adenocarcinoma	severity	ISO	RGD:1319403	D	RGD:11530998|PMID:26045339	20171026	RGD		associated with Obesity;protein:decreased expression:endometrium (human)	
1309196	Foxo3	forkhead box O3	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1319403	D	RGD:11554173	20170110	CTD		CTD Direct Evidence: marker/mechanism	PMID:23099361
1309196	Foxo3	forkhead box O3	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1319403	D	RGD:10402198|PMID:23278239	20151020	RGD		protein:increased expression:hippocampus,mitochondrion:	
1309196	Foxo3	forkhead box O3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1319403	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19380174
1309196	Foxo3	forkhead box O3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1319403	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:19380174
1309196	Foxo3	forkhead box O3	gene	DOID:5082	liver cirrhosis		ISO	RGD:1319403	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:33372984
1309196	Foxo3	forkhead box O3	gene	DOID:5117	dermoid cyst of ovary		ISS	RGD:1553155	D	RGD:13592920	20180518	MouseDO		OMIM:166950	
1309196	Foxo3	forkhead box O3	gene	DOID:5648	choroid plexus carcinoma		ISO	RGD:1319403	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHOROID PLEXUS CARCINOMA	
1309196	Foxo3	forkhead box O3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309196	Foxo3	forkhead box O3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319403	D	RGD:10402186|PMID:19435720	20151019	RGD		mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium:	
1309196	Foxo3	forkhead box O3	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:10402202|PMID:22930444	20151020	RGD		protein:decreased expression:spinal cord,neuron, astrocyte:	
1309196	Foxo3	forkhead box O3	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1319403	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27742544
1309196	Foxo3	forkhead box O3	gene	DOID:9003676	Brain Hypoxia-Ischemia		IEP		D	RGD:10402203|PMID:24229603	20151020	RGD		protein:increased expression:cerebral cortex,nucleus:	
1309196	Foxo3	forkhead box O3	gene	DOID:9004616	Left Ventricular Hypertrophy		IEP		D	RGD:2293330|PMID:18192848	20151020	RGD		associated with Diabetes Mellitus, Type 2;protein:decreased phosphorylation:heart:	
1309196	Foxo3	forkhead box O3	gene	DOID:9004994	Embryo Loss		ISO	RGD:1319403	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35038060
1309196	Foxo3	forkhead box O3	gene	DOID:9005396	Intimal Hyperplasia		ISO	RGD:1319403	D	RGD:10402197|PMID:15662024	20151020	RGD			
1309196	Foxo3	forkhead box O3	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:10402196|PMID:17082237	20151020	RGD		protein:increased phosphorylation, increased expression:glomerulus, cytoplasm:	
1309196	Foxo3	forkhead box O3	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:10402199|PMID:12683947	20151020	RGD		mRNA:decreased expression:liver:	
1309196	Foxo3	forkhead box O3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1319403	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23090186|PMID:23792339
1309196	Foxo3	forkhead box O3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1553155	D	RGD:10402196|PMID:17082237	20151020	RGD		protein:increased phosphorylation, increased expression:glomerulus, cytoplasm:	
1309196	Foxo3	forkhead box O3	gene	DOID:9006182	Carotid Artery Injuries		IEP		D	RGD:10402197|PMID:15662024	20151020	RGD			
1309196	Foxo3	forkhead box O3	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1319403	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35038060
1309196	Foxo3	forkhead box O3	gene	DOID:9970	obesity		IEP		D	RGD:10402201|PMID:16467659	20151020	RGD		protein:increased expression:myocardium:	
1309196	Foxo3	forkhead box O3	gene	DOID:9970	obesity		ISO	RGD:1319403	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23954404
1309197	Zw10	zw10 kinetochore protein	gene	DOID:1324	lung cancer		ISO	RGD:1319405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309197	Zw10	zw10 kinetochore protein	gene	DOID:3347	osteosarcoma		ISO	RGD:1319405	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14767549
1309197	Zw10	zw10 kinetochore protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309197	Zw10	zw10 kinetochore protein	gene	DOID:4362	cervical cancer		ISO	RGD:1319405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309197	Zw10	zw10 kinetochore protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309197	Zw10	zw10 kinetochore protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309197	Zw10	zw10 kinetochore protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309197	Zw10	zw10 kinetochore protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309198	Snrnp40	small nuclear ribonucleoprotein U5 subunit 40	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309198	Snrnp40	small nuclear ribonucleoprotein U5 subunit 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309198	Snrnp40	small nuclear ribonucleoprotein U5 subunit 40	gene	DOID:1115	sarcoma		ISO	RGD:1606327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309198	Snrnp40	small nuclear ribonucleoprotein U5 subunit 40	gene	DOID:1324	lung cancer		ISO	RGD:1606327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309198	Snrnp40	small nuclear ribonucleoprotein U5 subunit 40	gene	DOID:1909	melanoma		ISO	RGD:1606327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309198	Snrnp40	small nuclear ribonucleoprotein U5 subunit 40	gene	DOID:3275	thymoma		ISO	RGD:1606327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309198	Snrnp40	small nuclear ribonucleoprotein U5 subunit 40	gene	DOID:5041	esophageal cancer		ISO	RGD:1606327	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309198	Snrnp40	small nuclear ribonucleoprotein U5 subunit 40	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309198	Snrnp40	small nuclear ribonucleoprotein U5 subunit 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309198	Snrnp40	small nuclear ribonucleoprotein U5 subunit 40	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309198	Snrnp40	small nuclear ribonucleoprotein U5 subunit 40	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309198	Snrnp40	small nuclear ribonucleoprotein U5 subunit 40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309198	Snrnp40	small nuclear ribonucleoprotein U5 subunit 40	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309199	Cirsr	corepressor of RBPJ and splicing regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309199	Cirsr	corepressor of RBPJ and splicing regulator	gene	DOID:0080600	COVID-19		ISO	RGD:1602899	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1309199	Cirsr	corepressor of RBPJ and splicing regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1602899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309199	Cirsr	corepressor of RBPJ and splicing regulator	gene	DOID:1909	melanoma		ISO	RGD:1602899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309199	Cirsr	corepressor of RBPJ and splicing regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1602899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309199	Cirsr	corepressor of RBPJ and splicing regulator	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309199	Cirsr	corepressor of RBPJ and splicing regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1602899	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309199	Cirsr	corepressor of RBPJ and splicing regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309199	Cirsr	corepressor of RBPJ and splicing regulator	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309199	Cirsr	corepressor of RBPJ and splicing regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309199	Cirsr	corepressor of RBPJ and splicing regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309202	Dusp23	dual specificity phosphatase 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309202	Dusp23	dual specificity phosphatase 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309202	Dusp23	dual specificity phosphatase 23	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:0070287	primary autosomal recessive microcephaly 11		ISO	RGD:1319414	D	RGD:7240710	20140911	OMIM			
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:0070287	primary autosomal recessive microcephaly 11		ISO	RGD:1319414	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly 11, primary, autosomal recessive | ClinVar Annotator: match by term: PHC1-related condition	PMID:25741868
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1319414	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:1059	intellectual disability		ISO	RGD:1319414	D	RGD:8554872	20150407	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:23418308|PMID:25558065
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:1059	intellectual disability		ISO	RGD:1319414	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:10907	microcephaly		ISO	RGD:1319414	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital microcephaly	
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:1115	sarcoma		ISO	RGD:1319414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:12930	dilated cardiomyopathy		ISS	RGD:1319415	D	RGD:13592920	20240425	MouseDO			
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:1909	melanoma		ISO	RGD:1319414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:3275	thymoma		ISO	RGD:1319414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:6419	tetralogy of Fallot		ISS	RGD:1319415	D	RGD:13592920	20180518	MouseDO		OMIM:187500	
1309203	Phc1	polyhomeotic homolog 1	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1319414	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16168501
1309204	Klf12	KLF transcription factor 12	gene	DOID:10534	stomach cancer		ISO	RGD:1319416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309204	Klf12	KLF transcription factor 12	gene	DOID:1909	melanoma		ISO	RGD:1319416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309204	Klf12	KLF transcription factor 12	gene	DOID:303	substance-related disorder		ISO	RGD:1319416	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1309204	Klf12	KLF transcription factor 12	gene	DOID:4362	cervical cancer		ISO	RGD:1319416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309204	Klf12	KLF transcription factor 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309204	Klf12	KLF transcription factor 12	gene	DOID:5419	schizophrenia		ISO	RGD:1319416	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1309204	Klf12	KLF transcription factor 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309204	Klf12	KLF transcription factor 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309204	Klf12	KLF transcription factor 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309205	Ccnt2	cyclin T2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309205	Ccnt2	cyclin T2	gene	DOID:0060058	lymphoma		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309205	Ccnt2	cyclin T2	gene	DOID:10534	stomach cancer		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309205	Ccnt2	cyclin T2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309205	Ccnt2	cyclin T2	gene	DOID:1909	melanoma		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309205	Ccnt2	cyclin T2	gene	DOID:3070	high grade glioma		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309205	Ccnt2	cyclin T2	gene	DOID:4362	cervical cancer		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309205	Ccnt2	cyclin T2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1319417	D	RGD:8554872	20190507	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1309205	Ccnt2	cyclin T2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309205	Ccnt2	cyclin T2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309206	Nsmce3	NSE3 component of SMC5/6 complex	gene	DOID:9001610	Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome		ISO	RGD:1319419	D	RGD:7240710	20190315	OMIM			
1309207	Ppp2r3c	protein phosphatase 2, regulatory subunit B'', gamma	gene	DOID:0111921	spermatogenic failure 36		ISO	RGD:1319421	D	RGD:7240710	20190529	OMIM			
1309207	Ppp2r3c	protein phosphatase 2, regulatory subunit B'', gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309207	Ppp2r3c	protein phosphatase 2, regulatory subunit B'', gamma	gene	DOID:9002447	Myoectodermal Gonadal Dysgenesis Syndrome		ISO	RGD:1319421	D	RGD:7240710	20191023	OMIM			
1309209	Ccni	cyclin I	gene	DOID:1324	lung cancer		ISO	RGD:1319424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309209	Ccni	cyclin I	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309209	Ccni	cyclin I	gene	DOID:3275	thymoma		ISO	RGD:1319424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309209	Ccni	cyclin I	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309209	Ccni	cyclin I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309209	Ccni	cyclin I	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309209	Ccni	cyclin I	gene	DOID:9256	colorectal cancer		ISO	RGD:1319424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309210	Grtp1	growth hormone regulated TBC protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309210	Grtp1	growth hormone regulated TBC protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309210	Grtp1	growth hormone regulated TBC protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1319426	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309210	Grtp1	growth hormone regulated TBC protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309210	Grtp1	growth hormone regulated TBC protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309210	Grtp1	growth hormone regulated TBC protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309210	Grtp1	growth hormone regulated TBC protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309211	Cdt1	chromatin licensing and DNA replication factor 1	gene	DOID:0060306	Meier-Gorlin syndrome		ISO	RGD:1604278	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21358632
1309211	Cdt1	chromatin licensing and DNA replication factor 1	gene	DOID:0060306	Meier-Gorlin syndrome		ISO	RGD:1604278	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Meier-Gorlin syndrome	PMID:21358632|PMID:22333897|PMID:23023959|PMID:24033266|PMID:25741868|PMID:28492532
1309211	Cdt1	chromatin licensing and DNA replication factor 1	gene	DOID:0080515	Meier-Gorlin syndrome 4		ISO	RGD:1604278	D	RGD:7240710	20190424	OMIM			
1309211	Cdt1	chromatin licensing and DNA replication factor 1	gene	DOID:0080515	Meier-Gorlin syndrome 4		ISO	RGD:1604278	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDT1-related condition | ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 4 | ClinVar Annotator: match by term: Meier-Gorlin syndrome 4	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21358632|PMID:22333897|PMID:23023959|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33338304|PMID:9536098
1309211	Cdt1	chromatin licensing and DNA replication factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309211	Cdt1	chromatin licensing and DNA replication factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1604278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309211	Cdt1	chromatin licensing and DNA replication factor 1	gene	DOID:1909	melanoma		ISO	RGD:1604278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309211	Cdt1	chromatin licensing and DNA replication factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309211	Cdt1	chromatin licensing and DNA replication factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309211	Cdt1	chromatin licensing and DNA replication factor 1	gene	DOID:630	genetic disease		ISO	RGD:1604278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309211	Cdt1	chromatin licensing and DNA replication factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604278	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1309211	Cdt1	chromatin licensing and DNA replication factor 1	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1604278	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35048507
1309211	Cdt1	chromatin licensing and DNA replication factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309212	Cpne9	copine family member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309212	Cpne9	copine family member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1604226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309212	Cpne9	copine family member 9	gene	DOID:1909	melanoma		ISO	RGD:1604226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309212	Cpne9	copine family member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1604226	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309212	Cpne9	copine family member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309212	Cpne9	copine family member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1309212	Cpne9	copine family member 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1354325	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type	PMID:10473568|PMID:10506123|PMID:1221956|PMID:15211654|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:3631078|PMID:9536098
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1354325	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2	PMID:10473568|PMID:10506123|PMID:1221956|PMID:15211654|PMID:16199547|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:34193099|PMID:3631078|PMID:9536098
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2	PMID:1221956|PMID:15211654|PMID:16199547|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:38431799|PMID:9536098
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1354325	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type	PMID:15211654|PMID:16199547|PMID:17576681|PMID:20691685|PMID:20809901|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:38431799|PMID:9536098
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1354325	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type	PMID:15211654|PMID:16199547|PMID:17576681|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:38431799|PMID:9536098
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1		ISO	RGD:1354325	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1		ISO	RGD:1354325	D	RGD:7240710	20200826	OMIM			
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1		ISO	RGD:1354325	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: B4GALT7-related condition | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 | ClinVar Annotator: match by term: XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY	PMID:10506123|PMID:15211654|PMID:17576681|PMID:20691685|PMID:20809901|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:29931299|PMID:30914273|PMID:31278392|PMID:31614862|PMID:34193099|PMID:38431799|PMID:9536098
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:0111508	Torrance type platyspondylic dysplasia		ISO	RGD:1354325	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lethal skeletal dysplasia	PMID:25741868|PMID:28492532|PMID:31278392
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:1115	sarcoma		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:1324	lung cancer		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:25741868|PMID:28492532
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:13359	Ehlers-Danlos syndrome	susceptibility	ISO	RGD:1354325	D	RGD:1599433|PMID:10473568	20070202	RGD		DNA:transition:exon;808C>T	
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:1596	depressive disorder		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:2030	anxiety disorder		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:2841	asthma		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:3275	thymoma		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1354325	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:630	genetic disease		ISO	RGD:1354325	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:31614862|PMID:38431799
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:9003507	Premature Birth		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:9005077	Joint Instability		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354325	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:15211654|PMID:20691685|PMID:20809901|PMID:24755949|PMID:25533962|PMID:25741868|PMID:28492532|PMID:31278392
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354325	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:28492532
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:9008023	Memory Disorders		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1354325	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
1309214	B4galt7	beta-1,4-galactosyltransferase 7	gene	DOID:9970	obesity		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:0060791	hypomyelinating leukodystrophy 9		ISO	RGD:1319432	D	RGD:7240710	20170201	OMIM			
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:0060791	hypomyelinating leukodystrophy 9		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 9 | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 9 | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 9 | ClinVar Annotator: match by term: RARS1-related condition | ClinVar Annotator: match by term: hypomyelinating leukodystrophy 9	PMID:24777941|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28905880|PMID:30791064|PMID:31216405|PMID:31814314
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:10579	leukodystrophy		ISO	RGD:1319432	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:1115	sarcoma		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:1826	epilepsy		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24777941|PMID:25741868|PMID:27848944|PMID:28492532|PMID:30791064
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319432	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24777941|PMID:25741868|PMID:27848944|PMID:28492532|PMID:30791064
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309215	Rars1	arginyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:0050773	paraganglioma		ISO	RGD:1606278	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:31687641|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:0050773	paraganglioma		ISO	RGD:1606278	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:35668420|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:0050773	paraganglioma		ISO	RGD:1606278	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27600092|PMID:28099933|PMID:28492532|PMID:28892078|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32830346|PMID:32887801|PMID:33748650|PMID:35668420|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:0050773	paraganglioma		ISO	RGD:1606278	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27600092|PMID:28099933|PMID:28492532|PMID:28892078|PMID:29641532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32830346|PMID:32887801|PMID:33748650|PMID:35668420|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:0050773	paraganglioma		ISO	RGD:1606278	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27600092|PMID:28099933|PMID:28492532|PMID:28892078|PMID:29641532|PMID:30050099|PMID:30306255|PMID:31666924|PMID:31687641|PMID:32741965|PMID:32830346|PMID:32887801|PMID:33748650|PMID:35441217|PMID:35668420|PMID:36495689|PMID:36597280|PMID:36841802|PMID:38473309|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:0050773	paraganglioma		ISO	RGD:1606278	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27600092|PMID:28099933|PMID:28492532|PMID:28892078|PMID:29641532|PMID:30050099|PMID:30306255|PMID:31666924|PMID:31687641|PMID:32830346|PMID:32887801|PMID:35441217|PMID:35668420|PMID:36495689|PMID:36597280|PMID:36841802|PMID:38473309|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:0050773	paraganglioma		ISO	RGD:1606278	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27600092|PMID:28099933|PMID:28492532|PMID:28892078|PMID:29641532|PMID:30050099|PMID:30306255|PMID:31666924|PMID:31687641|PMID:32830346|PMID:32887801|PMID:33748650|PMID:35441217|PMID:35668420|PMID:36495689|PMID:36597280|PMID:36841802|PMID:38473309|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:0050773	paraganglioma		ISO	RGD:1606278	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:23062074|PMID:24033266|PMID:24414418|PMID:25394176|PMID:25741868|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:36495689|PMID:36597280|PMID:37864521|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:0061217	pheochromocytoma/paraganglioma syndrome 2		ISO	RGD:1606278	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:0061217	pheochromocytoma/paraganglioma syndrome 2		ISO	RGD:1606278	D	RGD:7240710	20131030	OMIM			
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:0061217	pheochromocytoma/paraganglioma syndrome 2		ISO	RGD:1606278	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 2 | ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 2	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:23062074|PMID:24033266|PMID:24414418|PMID:25394176|PMID:25741868|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30306255|PMID:31687641|PMID:32887801|PMID:35668420|PMID:36495689|PMID:38473309|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1606278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1606278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:3070	high grade glioma		ISO	RGD:1606278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:16199547|PMID:22241717|PMID:26096992|PMID:28492532
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:16199547|PMID:22241717|PMID:26096992|PMID:28492532
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:893	Wilson disease		ISO	RGD:1606278	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:1606278	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:23062074|PMID:24033266|PMID:24414418|PMID:25394176|PMID:25741868|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:36495689|PMID:36597280|PMID:37864521|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606278	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:19628817|PMID:20071235|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:31687641|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606278	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:31687641|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606278	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:29641532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606278	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27600092|PMID:28099933|PMID:28492532|PMID:28892078|PMID:29641532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32830346|PMID:32887801|PMID:33748650|PMID:35668420|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606278	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27600092|PMID:28099933|PMID:28492532|PMID:28892078|PMID:29641532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32830346|PMID:32887801|PMID:33748650|PMID:35668420|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606278	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27600092|PMID:28099933|PMID:28492532|PMID:28892078|PMID:29641532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32830346|PMID:32887801|PMID:35441217|PMID:35668420|PMID:36495689|PMID:36597280|PMID:36841802|PMID:38473309|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606278	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27600092|PMID:28099933|PMID:28492532|PMID:28892078|PMID:29641532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32830346|PMID:32887801|PMID:33748650|PMID:35441217|PMID:35668420|PMID:36495689|PMID:36597280|PMID:36841802|PMID:38473309|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:25394176|PMID:25741868|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:29641532|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:35668420|PMID:36495689|PMID:36841802|PMID:37864521|PMID:38473309|PMID:6264239|PMID:6286462|PMID:9536098
1309216	Sdhaf2	succinate dehydrogenase complex assembly factor 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606278	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:25394176|PMID:25741868|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:29641532|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:35668420|PMID:36495689|PMID:36597280|PMID:36841802|PMID:37864521|PMID:38473309|PMID:6264239|PMID:6286462|PMID:9536098
1309217	Mrps33	mitochondrial ribosomal protein S33	gene	DOID:3312	bipolar disorder		ISO	RGD:1319435	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
1309217	Mrps33	mitochondrial ribosomal protein S33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309217	Mrps33	mitochondrial ribosomal protein S33	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309218	Hs6st1	heparan sulfate 6-O-sulfotransferase 1	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1319437	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:21700882|PMID:23643382|PMID:24033266|PMID:25636053|PMID:25741868|PMID:28492532
1309218	Hs6st1	heparan sulfate 6-O-sulfotransferase 1	gene	DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia		ISO	RGD:1319437	D	RGD:7240710	20140903	OMIM			
1309218	Hs6st1	heparan sulfate 6-O-sulfotransferase 1	gene	DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia		ISO	RGD:1319437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HS6ST1-related condition | ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia	PMID:21700882|PMID:23643382|PMID:24033266|PMID:25077900|PMID:25636053|PMID:25741868|PMID:28492532
1309218	Hs6st1	heparan sulfate 6-O-sulfotransferase 1	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1319437	D	RGD:11554173	20250708	CTD		CTD Direct Evidence: marker/mechanism	
1309218	Hs6st1	heparan sulfate 6-O-sulfotransferase 1	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1319437	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia	PMID:21700882|PMID:23643382|PMID:24033266|PMID:25636053|PMID:25741868|PMID:28492532
1309218	Hs6st1	heparan sulfate 6-O-sulfotransferase 1	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1319437	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:21700882|PMID:23643382|PMID:24033266|PMID:25636053|PMID:25741868|PMID:28492532
1309219	Ctdspl2	CTD small phosphatase like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309219	Ctdspl2	CTD small phosphatase like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309219	Ctdspl2	CTD small phosphatase like 2	gene	DOID:1115	sarcoma		ISO	RGD:1605073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309219	Ctdspl2	CTD small phosphatase like 2	gene	DOID:1324	lung cancer		ISO	RGD:1605073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309219	Ctdspl2	CTD small phosphatase like 2	gene	DOID:1909	melanoma		ISO	RGD:1605073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309219	Ctdspl2	CTD small phosphatase like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1605073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309219	Ctdspl2	CTD small phosphatase like 2	gene	DOID:3275	thymoma		ISO	RGD:1605073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309219	Ctdspl2	CTD small phosphatase like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309219	Ctdspl2	CTD small phosphatase like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309219	Ctdspl2	CTD small phosphatase like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309219	Ctdspl2	CTD small phosphatase like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309220	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309220	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309220	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309220	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309220	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309220	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309220	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309220	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309220	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1604339	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1309220	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309220	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309220	Kansl3	KAT8 regulatory NSL complex subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309221	Eif3k	eukaryotic translation initiation factor 3, subunit K	gene	DOID:10534	stomach cancer		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309221	Eif3k	eukaryotic translation initiation factor 3, subunit K	gene	DOID:1115	sarcoma		ISO	RGD:1342979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309221	Eif3k	eukaryotic translation initiation factor 3, subunit K	gene	DOID:1909	melanoma		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309221	Eif3k	eukaryotic translation initiation factor 3, subunit K	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309221	Eif3k	eukaryotic translation initiation factor 3, subunit K	gene	DOID:5041	esophageal cancer		ISO	RGD:1342979	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309221	Eif3k	eukaryotic translation initiation factor 3, subunit K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309221	Eif3k	eukaryotic translation initiation factor 3, subunit K	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309221	Eif3k	eukaryotic translation initiation factor 3, subunit K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309221	Eif3k	eukaryotic translation initiation factor 3, subunit K	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:0060017	CD3epsilon deficiency		ISO	RGD:1319442	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: CD3epsilon deficiency	PMID:25741868|PMID:28492532
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:0111971	immunodeficiency 18		ISO	RGD:1319442	D	RGD:7240710	20141015	OMIM			
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:0111971	immunodeficiency 18		ISO	RGD:1319442	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 18 | ClinVar Annotator: match by term: Immunodeficiency 18	PMID:15546002|PMID:16199547|PMID:17576681|PMID:24515816|PMID:25741868|PMID:28492532|PMID:35237542|PMID:8490660|PMID:9536098
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:1324	lung cancer		ISO	RGD:1319442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1319442	D	RGD:27372876|PMID:16237152	20200604	RGD		protein:increased expression:Tcell, testis (human)	
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:4362	cervical cancer		ISO	RGD:1319442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1319442	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1319442	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8490660
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1319442	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15546002
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1319442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:15546002|PMID:28492532|PMID:33628209|PMID:8490660
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:630	genetic disease		ISO	RGD:1319442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319442	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12833524
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:9005372	Inflammation		ISO	RGD:1319442	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22325453
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1319443	D	RGD:2314179|PMID:16628253	20091104	RGD			
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309222	Cd3e	CD3 epsilon subunit of T-cell receptor complex	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1319442	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1309224	Unk	unk zinc finger	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309224	Unk	unk zinc finger	gene	DOID:10534	stomach cancer		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309224	Unk	unk zinc finger	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309224	Unk	unk zinc finger	gene	DOID:4362	cervical cancer		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309224	Unk	unk zinc finger	gene	DOID:5041	esophageal cancer		ISO	RGD:1319446	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309224	Unk	unk zinc finger	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309224	Unk	unk zinc finger	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309224	Unk	unk zinc finger	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309224	Unk	unk zinc finger	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:0060058	lymphoma		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:0070512	neurodevelopmental disorder with hypotonia and speech delay		ISO	RGD:1319448	D	RGD:7240710	20230920	OMIM			
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:0070512	neurodevelopmental disorder with hypotonia and speech delay		ISO	RGD:1319448	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures	PMID:25741868|PMID:36528028
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:10534	stomach cancer		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:1059	intellectual disability		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: severe intellectual disability	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:1115	sarcoma		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:12849	autistic disorder		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:1324	lung cancer		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:1826	epilepsy		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: epilepsy	PMID:36528028
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:1826	epilepsy		ISO	RGD:1319448	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: epilepsy	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:1909	melanoma		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:2394	ovarian cancer		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:4362	cervical cancer		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319448	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:630	genetic disease		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:36528028
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1319448	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hypotonia	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319448	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: global developmental delay	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309225	Eif4a2	eukaryotic translation initiation factor 4A2	gene	DOID:9256	colorectal cancer		ISO	RGD:1319448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309227	Mlh3	mutL homolog 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309227	Mlh3	mutL homolog 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309227	Mlh3	mutL homolog 3	gene	DOID:0070276	hereditary nonpolyposis colorectal cancer type 7		ISO	RGD:1319451	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	
1309227	Mlh3	mutL homolog 3	gene	DOID:0070276	hereditary nonpolyposis colorectal cancer type 7		ISO	RGD:1319451	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 | ClinVar Annotator: match by term: colorectal cancer, hereditary nonpolyposis, type 7	PMID:11586295|PMID:12702580|PMID:12800209|PMID:16199547|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:18414213|PMID:18521850|PMID:19156873|PMID:23376243|PMID:23960188|PMID:25741868|PMID:26542077|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:30614234|PMID:31043711|PMID:31297992|PMID:31921681|PMID:32469048|PMID:33294277|PMID:33517345|PMID:33821390|PMID:34106356|PMID:35980532|PMID:36896836|PMID:40089605|PMID:9536098
1309227	Mlh3	mutL homolog 3	gene	DOID:0070276	hereditary nonpolyposis colorectal cancer type 7	susceptibility	ISO	RGD:1319451	D	RGD:7240710	20260812	OMIM			
1309227	Mlh3	mutL homolog 3	gene	DOID:0070311	oligoasthenoteratozoospermia		ISO	RGD:1319451	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Oligoasthenoteratozoospermia	PMID:25741868|PMID:28492532|PMID:33517345|PMID:40089605
1309227	Mlh3	mutL homolog 3	gene	DOID:0080875	IDH-mutant anaplastic astrocytoma		ISO	RGD:1319451	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Astrocytoma IDH-mutant	PMID:25741868
1309227	Mlh3	mutL homolog 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309227	Mlh3	mutL homolog 3	gene	DOID:1115	sarcoma		ISO	RGD:1319451	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309227	Mlh3	mutL homolog 3	gene	DOID:1380	endometrial cancer	susceptibility	ISO	RGD:1319451	D	RGD:7240710	20260812	OMIM			
1309227	Mlh3	mutL homolog 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1309227	Mlh3	mutL homolog 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1319451	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1309227	Mlh3	mutL homolog 3	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:25741868|PMID:26542077|PMID:28492532
1309227	Mlh3	mutL homolog 3	gene	DOID:3459	breast carcinoma		ISO	RGD:1319451	D	RGD:8554872	20170905	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868
1309227	Mlh3	mutL homolog 3	gene	DOID:3883	Lynch syndrome		ISO	RGD:1319451	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12702580
1309227	Mlh3	mutL homolog 3	gene	DOID:3883	Lynch syndrome		ISO	RGD:1319451	D	RGD:1600415|PMID:11586295	20070308	RGD		DNA:point mutations:exon:Q24E, N499S, E624Q, E1451K	
1309227	Mlh3	mutL homolog 3	gene	DOID:3883	Lynch syndrome		ISO	RGD:1319451	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:11586295|PMID:18521850|PMID:19156873|PMID:25637381|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29212164
1309227	Mlh3	mutL homolog 3	gene	DOID:3883	Lynch syndrome		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis	PMID:11586295|PMID:12800209|PMID:18521850|PMID:19156873|PMID:25741868|PMID:28492532|PMID:29212164
1309227	Mlh3	mutL homolog 3	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1319451	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868|PMID:28492532
1309227	Mlh3	mutL homolog 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309227	Mlh3	mutL homolog 3	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1319451	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16981255
1309227	Mlh3	mutL homolog 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309227	Mlh3	mutL homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319451	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532
1309227	Mlh3	mutL homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319451	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33606809|PMID:33821390|PMID:9536098
1309227	Mlh3	mutL homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319451	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33294277|PMID:33606809|PMID:33821390|PMID:34106356|PMID:9536098
1309227	Mlh3	mutL homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319451	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11317354|PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31297992|PMID:31921681|PMID:32469048|PMID:32984025|PMID:33294277|PMID:33606809|PMID:33821390|PMID:34106356|PMID:34408140|PMID:35292633|PMID:9536098
1309227	Mlh3	mutL homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319451	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25637381|PMID:25741868|PMID:28492532|PMID:35475445|PMID:35988656
1309227	Mlh3	mutL homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532|PMID:35988656
1309227	Mlh3	mutL homolog 3	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1319451	D	RGD:11554173	20190219	CTD		CTD Direct Evidence: marker/mechanism	
1309227	Mlh3	mutL homolog 3	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319451	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17656264
1309227	Mlh3	mutL homolog 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319451	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	PMID:25741868
1309227	Mlh3	mutL homolog 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1319451	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:25741868|PMID:28492532
1309227	Mlh3	mutL homolog 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1319451	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:25741868|PMID:28492532|PMID:31745173
1309227	Mlh3	mutL homolog 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:11317354|PMID:25741868|PMID:26542077|PMID:28492532|PMID:35292633
1309227	Mlh3	mutL homolog 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1319451	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:25741868|PMID:26542077|PMID:28492532
1309227	Mlh3	mutL homolog 3	gene	DOID:9256	colorectal cancer	sexual_dimorphism	ISO	RGD:1319451	D	RGD:153344543|PMID:29516665	20220824	RGD		DNA:SNP:3'utr: (rs108621)	
1309227	Mlh3	mutL homolog 3	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1319451	D	RGD:7240710	20260812	OMIM			
1309228	Slc35f6	solute carrier family 35, member F6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309228	Slc35f6	solute carrier family 35, member F6	gene	DOID:1324	lung cancer		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309228	Slc35f6	solute carrier family 35, member F6	gene	DOID:4362	cervical cancer		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309228	Slc35f6	solute carrier family 35, member F6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309228	Slc35f6	solute carrier family 35, member F6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:0050585	congenital generalized lipodystrophy		ISO	RGD:1319453	D	RGD:11554173	20180320	CTD		CTD Direct Evidence: marker/mechanism	
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:0050585	congenital generalized lipodystrophy		ISO	RGD:1319453	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital generalized lipodystrophy	PMID:19226263|PMID:24498038
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:0050585	congenital generalized lipodystrophy		ISO	RGD:1319454	D	RGD:10047097|PMID:19187773	20150709	RGD			
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1319453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1319453	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:0080600	COVID-19		ISO	RGD:1319453	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:0111135	congenital generalized lipodystrophy type 1		ISO	RGD:1319453	D	RGD:7240710	20180314	OMIM			
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:0111135	congenital generalized lipodystrophy type 1		ISO	RGD:1319453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRUNZELL SYNDROME, AGPAT2-RELATED | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 | ClinVar Annotator: match by term: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 | ClinVar Annotator: match by term: Lipodystrophy, congenital generalized, type 1	PMID:11967537|PMID:12765973|PMID:12826327|PMID:14557463|PMID:15181077|PMID:15629135|PMID:16199547|PMID:22995991|PMID:24498038|PMID:25195639|PMID:25741868|PMID:26072926|PMID:27144933|PMID:28492532|PMID:31416577|PMID:32117065|PMID:32280377|PMID:32412105|PMID:32800040|PMID:32876150|PMID:33356916|PMID:34318892
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:0111135	congenital generalized lipodystrophy type 1		ISS	RGD:1319454	D	RGD:13592920	20230718	MouseDO		OMIM:608594	
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:10283	prostate cancer		ISO	RGD:1319453	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:10283	prostate cancer		ISO	RGD:1319453	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:12765973|PMID:25741868|PMID:28492532|PMID:32412105|PMID:32800040
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319453	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:1319453	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:811	lipodystrophy		ISO	RGD:1319453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lipodystrophy	PMID:14557463|PMID:25741868
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:811	lipodystrophy	susceptibility	ISO	RGD:1319453	D	RGD:1598785|PMID:11967537	20061219	RGD			
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309229	Agpat2	1-acylglycerol-3-phosphate O-acyltransferase 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:1319453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:11967537|PMID:12826327|PMID:25741868|PMID:28492532
1309230	Wdr33	WD repeat domain 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309230	Wdr33	WD repeat domain 33	gene	DOID:10534	stomach cancer		ISO	RGD:1319455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309230	Wdr33	WD repeat domain 33	gene	DOID:1324	lung cancer		ISO	RGD:1319455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309230	Wdr33	WD repeat domain 33	gene	DOID:3070	high grade glioma		ISO	RGD:1319455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309230	Wdr33	WD repeat domain 33	gene	DOID:3275	thymoma		ISO	RGD:1319455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309230	Wdr33	WD repeat domain 33	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309230	Wdr33	WD repeat domain 33	gene	DOID:5041	esophageal cancer		ISO	RGD:1319455	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309230	Wdr33	WD repeat domain 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309230	Wdr33	WD repeat domain 33	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309230	Wdr33	WD repeat domain 33	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309230	Wdr33	WD repeat domain 33	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309232	Dclk3	doublecortin-like kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1352758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309232	Dclk3	doublecortin-like kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309232	Dclk3	doublecortin-like kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309233	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309233	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309233	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309233	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1319459	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309233	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:1319459	D	RGD:11039469|PMID:23748175	20160304	RGD		mRNA:increased expression:epithelium of female gonad (human)	
1309233	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:3070	high grade glioma		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309233	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:3312	bipolar disorder		ISO	RGD:1319459	D	RGD:11039413|PMID:18281098	20160302	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	
1309233	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309233	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319459	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309233	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309233	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:9002498	Wallerian Degeneration		IEP		D	RGD:10059662|PMID:8568916	20150824	RGD		associated with Sciatic Neuropathy	
1309233	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:1319459	D	RGD:11554173	20260602	CTD		CTD Direct Evidence: therapeutic	PMID:40631627
1309233	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309233	Srsf3	serine and arginine rich splicing factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309235	Hmg20b	high mobility group 20 B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309235	Hmg20b	high mobility group 20 B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309235	Hmg20b	high mobility group 20 B	gene	DOID:10534	stomach cancer		ISO	RGD:1347672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309235	Hmg20b	high mobility group 20 B	gene	DOID:1115	sarcoma		ISO	RGD:1347672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309235	Hmg20b	high mobility group 20 B	gene	DOID:1324	lung cancer		ISO	RGD:1347672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309235	Hmg20b	high mobility group 20 B	gene	DOID:3275	thymoma		ISO	RGD:1347672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309235	Hmg20b	high mobility group 20 B	gene	DOID:4362	cervical cancer		ISO	RGD:1347672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309235	Hmg20b	high mobility group 20 B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309235	Hmg20b	high mobility group 20 B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309235	Hmg20b	high mobility group 20 B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309235	Hmg20b	high mobility group 20 B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309236	Zc3hav1l	ZC3HAV1 like	gene	DOID:3275	thymoma		ISO	RGD:1601938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309236	Zc3hav1l	ZC3HAV1 like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309236	Zc3hav1l	ZC3HAV1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309236	Zc3hav1l	ZC3HAV1 like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309236	Zc3hav1l	ZC3HAV1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:1115	sarcoma		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:1324	lung cancer		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:2394	ovarian cancer		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:3070	high grade glioma		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:4362	cervical cancer		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:5041	esophageal cancer		ISO	RGD:1319465	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309237	Tle1	TLE family member 1, transcriptional corepressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309238	Fnbp4	formin binding protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309238	Fnbp4	formin binding protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309238	Fnbp4	formin binding protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309238	Fnbp4	formin binding protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309238	Fnbp4	formin binding protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309238	Fnbp4	formin binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309238	Fnbp4	formin binding protein 4	gene	DOID:1909	melanoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309238	Fnbp4	formin binding protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309238	Fnbp4	formin binding protein 4	gene	DOID:3070	high grade glioma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309238	Fnbp4	formin binding protein 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309238	Fnbp4	formin binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309238	Fnbp4	formin binding protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309238	Fnbp4	formin binding protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309238	Fnbp4	formin binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309238	Fnbp4	formin binding protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309238	Fnbp4	formin binding protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309238	Fnbp4	formin binding protein 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309240	Spmap2	sperm microtubule associated protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1319470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309240	Spmap2	sperm microtubule associated protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309240	Spmap2	sperm microtubule associated protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309240	Spmap2	sperm microtubule associated protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309241	Eif1b	eukaryotic translation initiation factor 1B	gene	DOID:1324	lung cancer		ISO	RGD:1601885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309241	Eif1b	eukaryotic translation initiation factor 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1601885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309241	Eif1b	eukaryotic translation initiation factor 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309241	Eif1b	eukaryotic translation initiation factor 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601885	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309241	Eif1b	eukaryotic translation initiation factor 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309242	Rnmt	RNA (guanine-7-) methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309242	Rnmt	RNA (guanine-7-) methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1319473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309242	Rnmt	RNA (guanine-7-) methyltransferase	gene	DOID:3070	high grade glioma		ISO	RGD:1319473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309242	Rnmt	RNA (guanine-7-) methyltransferase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309242	Rnmt	RNA (guanine-7-) methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1319473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309242	Rnmt	RNA (guanine-7-) methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309242	Rnmt	RNA (guanine-7-) methyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319473	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309242	Rnmt	RNA (guanine-7-) methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309242	Rnmt	RNA (guanine-7-) methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309242	Rnmt	RNA (guanine-7-) methyltransferase	gene	DOID:9256	colorectal cancer		ISO	RGD:1319473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309243	Calr3	calreticulin 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
1309243	Calr3	calreticulin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309243	Calr3	calreticulin 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1319475	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29988065|PMID:31513939|PMID:9536098
1309243	Calr3	calreticulin 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1319475	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:9536098
1309243	Calr3	calreticulin 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1319475	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28087566|PMID:28166811|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:9536098
1309243	Calr3	calreticulin 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1319475	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28087566|PMID:28492532|PMID:29544605|PMID:29988065|PMID:30847666|PMID:31513939|PMID:33057194|PMID:34127479|PMID:35982159|PMID:9536098
1309243	Calr3	calreticulin 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1319475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17576681|PMID:17655857|PMID:25640679|PMID:25741868|PMID:28087566|PMID:28492532|PMID:29544605|PMID:29988065|PMID:30847666|PMID:33057194|PMID:34127479|PMID:35982159|PMID:9536098
1309243	Calr3	calreticulin 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1319475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23861362|PMID:25741868|PMID:28492532|PMID:31513939
1309243	Calr3	calreticulin 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319475	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:28492532|PMID:29988065
1309243	Calr3	calreticulin 3	gene	DOID:9001172	FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19		ISO	RGD:1319475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19	PMID:25741868|PMID:28492532|PMID:29988065|PMID:30847666
1309243	Calr3	calreticulin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:0080600	COVID-19		ISO	RGD:1319477	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1319477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:12849	autistic disorder		ISO	RGD:1319477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15892143
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:12849	autistic disorder		ISO	RGD:1319477	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319477	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309244	Agap1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309245	Unc5d	unc-5 netrin receptor D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309245	Unc5d	unc-5 netrin receptor D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309245	Unc5d	unc-5 netrin receptor D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309246	Asb8	ankyrin repeat and SOCS box-containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309246	Asb8	ankyrin repeat and SOCS box-containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309246	Asb8	ankyrin repeat and SOCS box-containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1319481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309246	Asb8	ankyrin repeat and SOCS box-containing 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309246	Asb8	ankyrin repeat and SOCS box-containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309247	Tjp3	tight junction protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309247	Tjp3	tight junction protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309247	Tjp3	tight junction protein 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319483	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1309247	Tjp3	tight junction protein 3	gene	DOID:0080600	COVID-19		ISO	RGD:1319483	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309247	Tjp3	tight junction protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309247	Tjp3	tight junction protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309247	Tjp3	tight junction protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309247	Tjp3	tight junction protein 3	gene	DOID:1909	melanoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309247	Tjp3	tight junction protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309247	Tjp3	tight junction protein 3	gene	DOID:3275	thymoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309247	Tjp3	tight junction protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309247	Tjp3	tight junction protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309247	Tjp3	tight junction protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309247	Tjp3	tight junction protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309247	Tjp3	tight junction protein 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1309247	Tjp3	tight junction protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309247	Tjp3	tight junction protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309247	Tjp3	tight junction protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309247	Tjp3	tight junction protein 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309249	Gadd45gip1	GADD45G interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1319487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309249	Gadd45gip1	GADD45G interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309249	Gadd45gip1	GADD45G interacting protein 1	gene	DOID:9352	type 2 diabetes mellitus		ISS	RGD:1319488	D	RGD:13592920	20180518	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
1309250	Slc30a6	solute carrier family 30 member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309250	Slc30a6	solute carrier family 30 member 6	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319489	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16580781
1309250	Slc30a6	solute carrier family 30 member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309250	Slc30a6	solute carrier family 30 member 6	gene	DOID:1324	lung cancer		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309250	Slc30a6	solute carrier family 30 member 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309250	Slc30a6	solute carrier family 30 member 6	gene	DOID:3070	high grade glioma		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309250	Slc30a6	solute carrier family 30 member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309250	Slc30a6	solute carrier family 30 member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309250	Slc30a6	solute carrier family 30 member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309250	Slc30a6	solute carrier family 30 member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309250	Slc30a6	solute carrier family 30 member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309252	Ift54	intraflagellar transport 54	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1319493	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short ribs | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:16199547|PMID:21945076|PMID:25741868|PMID:26487268|PMID:28492532|PMID:29068549
1309252	Ift54	intraflagellar transport 54	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309252	Ift54	intraflagellar transport 54	gene	DOID:0061283	Senior-Loken syndrome 9		ISO	RGD:1319493	D	RGD:7240710	20170405	OMIM			
1309252	Ift54	intraflagellar transport 54	gene	DOID:0061283	Senior-Loken syndrome 9		ISO	RGD:1319493	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: SENIOR-LOKEN SYNDROME 9 | ClinVar Annotator: match by term: Senior-Loken syndrome 9 | ClinVar Annotator: match by term: TRAF3IP1-related condition	PMID:16199547|PMID:21945076|PMID:25741868|PMID:26487268|PMID:28492532|PMID:29068549
1309252	Ift54	intraflagellar transport 54	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1319493	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: short-rib polydactyly syndrome type II	
1309252	Ift54	intraflagellar transport 54	gene	DOID:10534	stomach cancer		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309252	Ift54	intraflagellar transport 54	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309252	Ift54	intraflagellar transport 54	gene	DOID:1115	sarcoma		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309252	Ift54	intraflagellar transport 54	gene	DOID:1148	polydactyly		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868
1309252	Ift54	intraflagellar transport 54	gene	DOID:12714	Ellis-Van Creveld syndrome		ISO	RGD:1319493	D	RGD:8554872	20190312	ClinVar		ClinVar Annotator: match by term: Ellis-van Creveld syndrome	PMID:25741868
1309252	Ift54	intraflagellar transport 54	gene	DOID:1324	lung cancer		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309252	Ift54	intraflagellar transport 54	gene	DOID:1682	congenital heart disease		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
1309252	Ift54	intraflagellar transport 54	gene	DOID:1909	melanoma		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309252	Ift54	intraflagellar transport 54	gene	DOID:2394	ovarian cancer		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:28492532
1309252	Ift54	intraflagellar transport 54	gene	DOID:5041	esophageal cancer		ISO	RGD:1319493	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1309252	Ift54	intraflagellar transport 54	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309252	Ift54	intraflagellar transport 54	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309252	Ift54	intraflagellar transport 54	gene	DOID:630	genetic disease		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309252	Ift54	intraflagellar transport 54	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868
1309252	Ift54	intraflagellar transport 54	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309252	Ift54	intraflagellar transport 54	gene	DOID:9001031	Retrognathia		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1309252	Ift54	intraflagellar transport 54	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868
1309252	Ift54	intraflagellar transport 54	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1309252	Ift54	intraflagellar transport 54	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309252	Ift54	intraflagellar transport 54	gene	DOID:9256	colorectal cancer		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1309253	Lzic	leucine zipper and CTNNBIP1 domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309253	Lzic	leucine zipper and CTNNBIP1 domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1319494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309253	Lzic	leucine zipper and CTNNBIP1 domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309253	Lzic	leucine zipper and CTNNBIP1 domain containing	gene	DOID:3347	osteosarcoma		IEP		D	RGD:2314410|PMID:19444910	20091113	RGD			
1309253	Lzic	leucine zipper and CTNNBIP1 domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1319494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309253	Lzic	leucine zipper and CTNNBIP1 domain containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309253	Lzic	leucine zipper and CTNNBIP1 domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309253	Lzic	leucine zipper and CTNNBIP1 domain containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309255	Ccl12	C-C motif chemokine ligand 12	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1319498	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: therapeutic	PMID:28434932
1309255	Ccl12	C-C motif chemokine ligand 12	gene	DOID:1205	allergic disease		ISO	RGD:1319498	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
1309255	Ccl12	C-C motif chemokine ligand 12	gene	DOID:1324	lung cancer		ISO	RGD:1353724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309255	Ccl12	C-C motif chemokine ligand 12	gene	DOID:1909	melanoma		ISO	RGD:1353724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309255	Ccl12	C-C motif chemokine ligand 12	gene	DOID:2316	brain ischemia		ISO	RGD:1319498	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914
1309255	Ccl12	C-C motif chemokine ligand 12	gene	DOID:2377	multiple sclerosis		ISO	RGD:1353724	D	RGD:4145472|PMID:19865101	20150406	RGD		DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human)	
1309255	Ccl12	C-C motif chemokine ligand 12	gene	DOID:552	pneumonia		ISO	RGD:1319498	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
1309255	Ccl12	C-C motif chemokine ligand 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319498	D	RGD:11344640|PMID:26569409	20210421	RGD		mRNA:increased expression:liver (mouse)	
1309255	Ccl12	C-C motif chemokine ligand 12	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:5135274|PMID:9698165	20141216	RGD		mRNA:increased expression:spinal cord	
1309255	Ccl12	C-C motif chemokine ligand 12	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1319498	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12388339
1309255	Ccl12	C-C motif chemokine ligand 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309256	Zmiz2	zinc finger, MIZ-type containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309256	Zmiz2	zinc finger, MIZ-type containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309256	Zmiz2	zinc finger, MIZ-type containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309256	Zmiz2	zinc finger, MIZ-type containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309256	Zmiz2	zinc finger, MIZ-type containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1605930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309256	Zmiz2	zinc finger, MIZ-type containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1605930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309256	Zmiz2	zinc finger, MIZ-type containing 2	gene	DOID:1909	melanoma		ISO	RGD:1605930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309256	Zmiz2	zinc finger, MIZ-type containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309256	Zmiz2	zinc finger, MIZ-type containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309256	Zmiz2	zinc finger, MIZ-type containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309256	Zmiz2	zinc finger, MIZ-type containing 2	gene	DOID:9006030	Infant Death		ISO	RGD:1605930	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Death in infancy	
1309256	Zmiz2	zinc finger, MIZ-type containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309256	Zmiz2	zinc finger, MIZ-type containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309257	Olfml2b	olfactomedin-like 2B	gene	DOID:2394	ovarian cancer		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309257	Olfml2b	olfactomedin-like 2B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309257	Olfml2b	olfactomedin-like 2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309257	Olfml2b	olfactomedin-like 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309257	Olfml2b	olfactomedin-like 2B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309257	Olfml2b	olfactomedin-like 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319500	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1309257	Olfml2b	olfactomedin-like 2B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319500	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309257	Olfml2b	olfactomedin-like 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309257	Olfml2b	olfactomedin-like 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309257	Olfml2b	olfactomedin-like 2B	gene	DOID:9256	colorectal cancer		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309260	Dnali1	dynein, axonemal, light intermediate chain 1	gene	DOID:0070582	spermatogenic failure 83		ISO	RGD:1319504	D	RGD:7240710	20230505	OMIM			
1309260	Dnali1	dynein, axonemal, light intermediate chain 1	gene	DOID:0070582	spermatogenic failure 83		ISO	RGD:1319504	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 83 | ClinVar Annotator: match by term: Spermatogenic failure 83	PMID:25741868
1309260	Dnali1	dynein, axonemal, light intermediate chain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319504	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309260	Dnali1	dynein, axonemal, light intermediate chain 1	gene	DOID:1909	melanoma		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309260	Dnali1	dynein, axonemal, light intermediate chain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309260	Dnali1	dynein, axonemal, light intermediate chain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309260	Dnali1	dynein, axonemal, light intermediate chain 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1309260	Dnali1	dynein, axonemal, light intermediate chain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309261	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309261	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309261	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309261	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309261	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309261	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309261	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309261	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309261	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309261	Rce1	Ras converting CAAX endopeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309262	Mtch1	mitochondrial carrier 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309262	Mtch1	mitochondrial carrier 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309262	Mtch1	mitochondrial carrier 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309262	Mtch1	mitochondrial carrier 1	gene	DOID:1324	lung cancer		ISO	RGD:1319508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309262	Mtch1	mitochondrial carrier 1	gene	DOID:1909	melanoma		ISO	RGD:1319508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309262	Mtch1	mitochondrial carrier 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309262	Mtch1	mitochondrial carrier 1	gene	DOID:3275	thymoma		ISO	RGD:1319508	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309262	Mtch1	mitochondrial carrier 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309262	Mtch1	mitochondrial carrier 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309262	Mtch1	mitochondrial carrier 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309262	Mtch1	mitochondrial carrier 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309262	Mtch1	mitochondrial carrier 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309262	Mtch1	mitochondrial carrier 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309263	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:10534	stomach cancer		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309263	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309263	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:1115	sarcoma		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309263	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309263	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1605060	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309263	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309263	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309263	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309263	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1309263	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309263	Tmco6	transmembrane and coiled-coil domains 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319511	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:12567324|PMID:20498079|PMID:22302990|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32531858|PMID:35886001
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:0110129	Bardet-Biedl syndrome 7		ISO	RGD:1319511	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:0110129	Bardet-Biedl syndrome 7		ISO	RGD:1319511	D	RGD:7240710	20171011	OMIM			
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:0110129	Bardet-Biedl syndrome 7		ISO	RGD:1319511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 7 | ClinVar Annotator: match by term: BBS7-related ciliopathy | ClinVar Annotator: match by term: BBS7-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 7	PMID:12567324|PMID:16199547|PMID:17576681|PMID:19402160|PMID:20177705|PMID:20498079|PMID:21209035|PMID:21642631|PMID:21937992|PMID:22302990|PMID:22500027|PMID:23572516|PMID:25533962|PMID:25741868|PMID:27486776|PMID:28492532|PMID:28761321|PMID:29696775|PMID:29970488|PMID:30029678|PMID:30614526|PMID:30718709|PMID:30839500|PMID:31196119|PMID:31376382|PMID:31521835|PMID:31589614|PMID:31964843|PMID:32531858|PMID:35835773|PMID:35886001|PMID:37431782|PMID:9536098
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:0110129	Bardet-Biedl syndrome 7		ISS	RGD:1319512	D	RGD:13592920	20260319	MouseDO		OMIM:615984	
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:1059	intellectual disability		ISO	RGD:1319511	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:1115	sarcoma		ISO	RGD:1319511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:11830	myopia		ISO	RGD:1319511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1319511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:1826	epilepsy		ISO	RGD:1319511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:1909	melanoma		ISO	RGD:1319511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1319511	D	RGD:1579975|PMID:12567324	19990101	RGD			
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1319511	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARL6-related disorder | ClinVar Annotator: match by term: Bardet-Biedl Syndrome | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:12567324|PMID:16199547|PMID:16308660|PMID:17576681|PMID:19402160|PMID:19666486|PMID:19797195|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21552264|PMID:21642631|PMID:25741868|PMID:26518167|PMID:27486776|PMID:27659767|PMID:28492532|PMID:28761321|PMID:29696775|PMID:29970488|PMID:30029678|PMID:30079607|PMID:30614526|PMID:30839500|PMID:31196119|PMID:31456290|PMID:31469663|PMID:31530639|PMID:32686083|PMID:33138063|PMID:34526762|PMID:37293956|PMID:37431782|PMID:9536098
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1319511	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:12567324|PMID:16199547|PMID:16308660|PMID:17576681|PMID:19402160|PMID:19666486|PMID:19797195|PMID:20498079|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21552264|PMID:21642631|PMID:22302990|PMID:25741868|PMID:26518167|PMID:27486776|PMID:27659767|PMID:28492532|PMID:28761321|PMID:29696775|PMID:29970488|PMID:30029678|PMID:30079607|PMID:30614526|PMID:30839500|PMID:31196119|PMID:31456290|PMID:31469663|PMID:31530639|PMID:31589614|PMID:31964843|PMID:32531858|PMID:32686083|PMID:33138063|PMID:34526762|PMID:35886001|PMID:37293956|PMID:37431782|PMID:9536098
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:3275	thymoma		ISO	RGD:1319511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1319511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:630	genetic disease		ISO	RGD:1319511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12567324|PMID:19402160|PMID:21209035|PMID:25741868|PMID:28492532|PMID:29696775|PMID:30614526|PMID:30839500|PMID:31196119
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319511	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:12567324|PMID:16199547|PMID:19402160|PMID:20498079|PMID:21209035|PMID:22302990|PMID:23462753|PMID:25741868|PMID:26518167|PMID:28492532|PMID:31196119|PMID:31589614|PMID:31964843|PMID:32448990|PMID:32531858|PMID:33777945|PMID:35886001
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309264	Bbs7	Bardet-Biedl syndrome 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309266	Tmem131	transmembrane protein 131	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309266	Tmem131	transmembrane protein 131	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309266	Tmem131	transmembrane protein 131	gene	DOID:10534	stomach cancer		ISO	RGD:1606821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309266	Tmem131	transmembrane protein 131	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309266	Tmem131	transmembrane protein 131	gene	DOID:1115	sarcoma		ISO	RGD:1606821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309266	Tmem131	transmembrane protein 131	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309266	Tmem131	transmembrane protein 131	gene	DOID:2394	ovarian cancer		ISO	RGD:1606821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309266	Tmem131	transmembrane protein 131	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309266	Tmem131	transmembrane protein 131	gene	DOID:4362	cervical cancer		ISO	RGD:1606821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309266	Tmem131	transmembrane protein 131	gene	DOID:5041	esophageal cancer		ISO	RGD:1606821	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309266	Tmem131	transmembrane protein 131	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309266	Tmem131	transmembrane protein 131	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309266	Tmem131	transmembrane protein 131	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309266	Tmem131	transmembrane protein 131	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309267	Cstf1	cleavage stimulation factor subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309267	Cstf1	cleavage stimulation factor subunit 1	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1319516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1309267	Cstf1	cleavage stimulation factor subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1319516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309267	Cstf1	cleavage stimulation factor subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309267	Cstf1	cleavage stimulation factor subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309267	Cstf1	cleavage stimulation factor subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309268	Nsun5	NOP2/Sun RNA methyltransferase 5	gene	DOID:1909	melanoma		ISO	RGD:1319518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309268	Nsun5	NOP2/Sun RNA methyltransferase 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309268	Nsun5	NOP2/Sun RNA methyltransferase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309268	Nsun5	NOP2/Sun RNA methyltransferase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309269	Scara3	scavenger receptor class A, member 3	gene	DOID:1115	sarcoma		ISO	RGD:1319520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309269	Scara3	scavenger receptor class A, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309269	Scara3	scavenger receptor class A, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1606840	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23867347
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1606840	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0070067	White-Sutton syndrome		ISO	RGD:1606840	D	RGD:8554872	20220628	ClinVar		ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0080016	spina bifida		ISO	RGD:1606840	D	RGD:12801432|PMID:26446020	20170330	RGD		DNA, protein:hypermethylation, decreased expression:promoter, brain	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		IEP		D	RGD:12801415|PMID:12947339	20170329	RGD			
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0080328	Culler-Jones syndrome		ISO	RGD:1606840	D	RGD:7240710	20140911	OMIM			
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0080328	Culler-Jones syndrome		ISO	RGD:1606840	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CULLER-JONES SYNDROME | ClinVar Annotator: match by term: Culler-Jones syndrome | ClinVar Annotator: match by term: GLI2-related disorder	PMID:14581620|PMID:16327884|PMID:20685856|PMID:22978696|PMID:24744436|PMID:25741868|PMID:26893459|PMID:28191889|PMID:28492532
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:27993330|PMID:29435664
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0080705	medulloblastoma SHH activated and TP53 wild-type		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated and TP53 wild-type	PMID:22820256|PMID:22832583|PMID:24651015|PMID:27993330|PMID:28726821|PMID:33741928
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1606840	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital hypogonadotropic hypogonadism	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0110873	holoprosencephaly 9		ISO	RGD:1606840	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0110873	holoprosencephaly 9		ISO	RGD:1606840	D	RGD:7240710	20130425	OMIM			
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0110873	holoprosencephaly 9		ISO	RGD:1606840	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebellar cyst | ClinVar Annotator: match by term: GLI2-related condition | ClinVar Annotator: match by term: HOLOPROSENCEPHALY 9 | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar Annotator: match by term: Holoprosencephaly 9	PMID:10725236|PMID:14581620|PMID:15994174|PMID:16199547|PMID:16327884|PMID:17096318|PMID:1756909|PMID:17569090|PMID:17576681|PMID:19223936|PMID:20685056|PMID:20685856|PMID:21204792|PMID:21416594|PMID:22967285|PMID:22978696|PMID:23408573|PMID:24744436|PMID:25056824|PMID:25741868|PMID:26261006|PMID:26334177|PMID:26893459|PMID:28492532|PMID:29095814|PMID:29261175|PMID:29876959|PMID:29992659|PMID:30552426|PMID:33057194|PMID:3320637|PMID:33729509|PMID:34006472|PMID:34198905|PMID:34906515|PMID:34921505|PMID:37773632|PMID:38096238|PMID:38649797|PMID:9536098
1309270	Gli2	GLI family zinc finger 2	gene	DOID:0111428	essential tremor 1		ISO	RGD:1606840	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:28492532
1309270	Gli2	GLI family zinc finger 2	gene	DOID:1059	intellectual disability		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28492532
1309270	Gli2	GLI family zinc finger 2	gene	DOID:10907	microcephaly		ISO	RGD:1606840	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1309270	Gli2	GLI family zinc finger 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:1115	sarcoma		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:11294	arteriovenous malformation		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arteriovenous malformation	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:13608	biliary atresia	disease_progression	ISO	RGD:1606840	D	RGD:12802349|PMID:25746691	20170405	RGD			
1309270	Gli2	GLI family zinc finger 2	gene	DOID:1459	hypothyroidism		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:28492532
1309270	Gli2	GLI family zinc finger 2	gene	DOID:14679	VACTERL association		ISO	RGD:1319523	D	RGD:155791680|PMID:11172440	20230105	RGD			
1309270	Gli2	GLI family zinc finger 2	gene	DOID:1826	epilepsy		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:28492532
1309270	Gli2	GLI family zinc finger 2	gene	DOID:1891	optic nerve disease		ISO	RGD:1606840	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:1909	melanoma		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1606840	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868|PMID:26893459|PMID:28492532
1309270	Gli2	GLI family zinc finger 2	gene	DOID:203	exostosis		ISO	RGD:1606840	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Exostoses	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1606840	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16936257
1309270	Gli2	GLI family zinc finger 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1606840	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:10700170|PMID:36428691
1309270	Gli2	GLI family zinc finger 2	gene	DOID:2841	asthma		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1309270	Gli2	GLI family zinc finger 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:4621	holoprosencephaly		ISO	RGD:1606840	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27585885
1309270	Gli2	GLI family zinc finger 2	gene	DOID:4621	holoprosencephaly		ISO	RGD:1606840	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: microform holoprosencephaly	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:630	genetic disease		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14581620|PMID:15994174|PMID:20685856|PMID:22967285|PMID:24744436|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:36413997|PMID:37165954
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9000495	Tremor		ISO	RGD:1606840	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9000671	Thakker-Donnai Syndrome		ISO	RGD:1606840	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27585885
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9001471	Anorectal Malformations		IEP		D	RGD:155791683|PMID:25213187	20230106	RGD		mRNA:decreased expression:terminal  rectum	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:1319523	D	RGD:12802352|PMID:11485934	20170405	RGD			
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:1606840	D	RGD:12798571|PMID:20146882	20170328	RGD		mRNA, protein:decreased expression:rectum	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1606840	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9003807	Bifid Nose		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bifid nose	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:1606840	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Pituitary Stalk Interruption Syndrome | ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1606840	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10700170
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1606840	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27585885
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1606840	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:31292255
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9008280	Holoprosencephaly 10		ISO	RGD:1606840	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES	PMID:14581620|PMID:20685856|PMID:24744436|PMID:25741868|PMID:26893459|PMID:28492532
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1606840	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9008681	Deafness		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: deafness	
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1606840	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9410	combined pituitary hormone deficiency		ISO	RGD:1606840	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Panhypopituitarism	PMID:25741868
1309270	Gli2	GLI family zinc finger 2	gene	DOID:9993	hypoglycemia		ISO	RGD:1606840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:16909397|PMID:18235024|PMID:25741868|PMID:28492532|PMID:31964843|PMID:32531858|PMID:33309813
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:0050952	spastic ataxia		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:0081022	cone dystrophy with supernormal rod responses		ISO	RGD:1319524	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:0081022	cone dystrophy with supernormal rod responses		ISO	RGD:1319524	D	RGD:7240710	20130221	OMIM			
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:0081022	cone dystrophy with supernormal rod responses		ISO	RGD:1319524	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES | ClinVar Annotator: match by term: KCNV2-related condition | ClinVar Annotator: match by term: Retinal cone dystrophy 3B | ClinVar Annotator: match by term: cone dystrophy with supernormal rod electroretinogram	PMID:16909397|PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:22264887|PMID:23077521|PMID:23115240|PMID:23143909|PMID:23725738|PMID:23885164|PMID:25741868|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:31589614|PMID:31960170|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:34426522|PMID:35456422|PMID:36284460|PMID:38219857
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:0111011	cone-rod dystrophy 6		ISO	RGD:1319524	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 6	PMID:25741868
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:10376	amblyopia		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:10907	microcephaly		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:10965	spastic diplegia		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:1143	exotropia		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:1588	thrombocytopenia		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:4448	macular degeneration		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:25741868|PMID:28492532
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:5679	retinal disease		ISO	RGD:1319524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:16909397|PMID:17896311|PMID:18235024|PMID:21882291|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:35119454|PMID:35456422|PMID:36909829
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:5723	optic atrophy		ISO	RGD:1319524	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:607	paraplegia		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:630	genetic disease		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16909397|PMID:28492532|PMID:38219857|PMID:38540785
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16909397|PMID:17896311|PMID:18235024|PMID:18400204|PMID:19952985|PMID:21558291|PMID:21882291|PMID:21911584|PMID:23077521|PMID:23115240|PMID:23885164|PMID:25741868|PMID:26992781|PMID:28492532|PMID:31180159|PMID:31589614|PMID:31960170|PMID:31964843|PMID:32508047|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33309813|PMID:33546218|PMID:34426522|PMID:35260635|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9000343	Vision Disorders		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9001510	Funnel Chest		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319524	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1319524	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9834	hyperopia		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309271	Kcnv2	potassium voltage-gated channel modifier subfamily V member 2	gene	DOID:9993	hypoglycemia		ISO	RGD:1319524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32508047|PMID:32531858|PMID:33546218|PMID:36284460
1309272	Sall2	spalt-like transcription factor 2	gene	DOID:12270	coloboma		ISO	RGD:1345005	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309272	Sall2	spalt-like transcription factor 2	gene	DOID:12270	coloboma		ISO	RGD:1345005	D	RGD:7240710	20171011	OMIM			
1309272	Sall2	spalt-like transcription factor 2	gene	DOID:12270	coloboma		ISO	RGD:1345005	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Coloboma, ocular, autosomal recessive | ClinVar Annotator: match by term: SALL2-related condition	PMID:25741868|PMID:28492532
1309273	Tmem26	transmembrane protein 26	gene	DOID:4362	cervical cancer		ISO	RGD:1319527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309273	Tmem26	transmembrane protein 26	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309273	Tmem26	transmembrane protein 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309274	Mok	MOK protein kinase	gene	DOID:0111402	mucopolysaccharidosis type IIID		ISO	RGD:1319529	D	RGD:8554872	20191105	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D	PMID:25741868
1309274	Mok	MOK protein kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1319529	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309274	Mok	MOK protein kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309274	Mok	MOK protein kinase	gene	DOID:1115	sarcoma		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309274	Mok	MOK protein kinase	gene	DOID:3275	thymoma		ISO	RGD:1319529	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309274	Mok	MOK protein kinase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1319529	D	RGD:7243170|PMID:15900605	20130510	RGD		mRNA:increased expression:kidney	
1309274	Mok	MOK protein kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309274	Mok	MOK protein kinase	gene	DOID:6039	uveal melanoma		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309274	Mok	MOK protein kinase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309274	Mok	MOK protein kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309274	Mok	MOK protein kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309274	Mok	MOK protein kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:1319529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:0050741	alcohol dependence		IEP		D	RGD:616363027|PMID:29753887	20250523	RGD		associated with nicotine dependence; protein:decreased expression:nucleus accumbens (rat)	
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:0050741	alcohol dependence	treatment	IDA		D	RGD:598147066|PMID:27993695	20250422	RGD			
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:0050741	alcohol dependence	treatment	IEP		D	RGD:598150065|PMID:24535561	20250428	RGD			
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:0050741	alcohol dependence	treatment	IEP		D	RGD:598154609|PMID:27199635	20250430	RGD			
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:0050741	alcohol dependence	treatment	IEP		D	RGD:598276809|PMID:36153003	20250507	RGD			
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:0050742	nicotine dependence		IEP		D	RGD:616363027|PMID:29753887	20250523	RGD		protein:decreased expression:nucleus accumbens (rat)	
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:0050865	tongue squamous cell carcinoma	severity	ISO	RGD:1319531	D	RGD:151361157|PMID:24762957	20220225	RGD			
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:10534	stomach cancer		ISO	RGD:1319531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:11206	opioid abuse	treatment	IDA		D	RGD:598147056|PMID:36470419	20250425	RGD			
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:11206	opioid abuse	treatment	IEP		D	RGD:598148157|PMID:29604365	20250424	RGD			
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:2223	platelet storage pool deficiency		ISS	RGD:1319532	D	RGD:13592920	20180518	MouseDO		OMIM:185050	
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:2773	contact dermatitis		ISO	RGD:1319531	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:3753	Hermansky-Pudlak syndrome		ISS	RGD:1319532	D	RGD:13592920	20180518	MouseDO			
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:4362	cervical cancer		ISO	RGD:1319531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1319531	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19015640
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:9004354	Alcohol-Related Disorders		IDA		D	RGD:598154596|PMID:25619881	20250430	RGD		protein:increased expression:brain, prefrontal cortex, nucleus accumbens  (rat)	
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309275	Slc7a11	solute carrier family 7 member 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309277	Mrpl22	mitochondrial ribosomal protein L22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309277	Mrpl22	mitochondrial ribosomal protein L22	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309277	Mrpl22	mitochondrial ribosomal protein L22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309277	Mrpl22	mitochondrial ribosomal protein L22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309278	Chic2	cysteine-rich hydrophobic domain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309278	Chic2	cysteine-rich hydrophobic domain 2	gene	DOID:1324	lung cancer		ISO	RGD:1319536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309278	Chic2	cysteine-rich hydrophobic domain 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309278	Chic2	cysteine-rich hydrophobic domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309278	Chic2	cysteine-rich hydrophobic domain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309278	Chic2	cysteine-rich hydrophobic domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309278	Chic2	cysteine-rich hydrophobic domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319536	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309278	Chic2	cysteine-rich hydrophobic domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319536	D	RGD:7240710	20130221	OMIM			
1309279	Tk2	thymidine kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309279	Tk2	thymidine kinase 2	gene	DOID:0060260	ptosis		ISO	RGD:1319538	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:12682338|PMID:19154348|PMID:19265691|PMID:20421844|PMID:22345218|PMID:25741868|PMID:25948719|PMID:26224072|PMID:28492532|PMID:29735374|PMID:30634555|PMID:31060578|PMID:31125140|PMID:34973561|PMID:35286480|PMID:37527940|PMID:38544965
1309279	Tk2	thymidine kinase 2	gene	DOID:0070329	mitochondrial DNA depletion syndrome		ISO	RGD:1319538	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome	PMID:12682338|PMID:16199547|PMID:16504786|PMID:18508266|PMID:19154348|PMID:19265691|PMID:19748572|PMID:20421844|PMID:25446393|PMID:25741868|PMID:25948719|PMID:28207748|PMID:28492532|PMID:29602790|PMID:29735374|PMID:30634555|PMID:30831263|PMID:31060578|PMID:32654952|PMID:33087887|PMID:34973561|PMID:35286480|PMID:35907766|PMID:37527940|PMID:38374194|PMID:38544965|PMID:38703036|PMID:40089535|PMID:40098049
1309279	Tk2	thymidine kinase 2	gene	DOID:0080120	mitochondrial DNA depletion syndrome 2		ISO	RGD:1319538	D	RGD:7240710	20130221	OMIM			
1309279	Tk2	thymidine kinase 2	gene	DOID:0080120	mitochondrial DNA depletion syndrome 2		ISO	RGD:1319538	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) | ClinVar Annotator: match by term: TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form | ClinVar Annotator: match by term: mitochondrial DNA depletion syndrome 2 (myopathic type)	PMID:11687801|PMID:12391347|PMID:12493767|PMID:12873860|PMID:16504786|PMID:16908738|PMID:18446447|PMID:18508266|PMID:19815440|PMID:20421844|PMID:22345218|PMID:23932787|PMID:25446393|PMID:25741868|PMID:28207748|PMID:28492532|PMID:29602790|PMID:29735374|PMID:29783828|PMID:30831263|PMID:31060578|PMID:31125140|PMID:33013660|PMID:33087887|PMID:35286480|PMID:35289132|PMID:35907766|PMID:37715114|PMID:38544965|PMID:38831166|PMID:40089535|PMID:40098049
1309279	Tk2	thymidine kinase 2	gene	DOID:0080120	mitochondrial DNA depletion syndrome 2		ISS	RGD:1319539	D	RGD:13592920	20230718	MouseDO		OMIM:609560	
1309279	Tk2	thymidine kinase 2	gene	DOID:0080600	COVID-19		ISO	RGD:1319538	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309279	Tk2	thymidine kinase 2	gene	DOID:0111193	facioscapulohumeral muscular dystrophy 2		ISO	RGD:1319538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weakness of facial musculature	PMID:12682338|PMID:19154348|PMID:19265691|PMID:20421844|PMID:25741868|PMID:25948719|PMID:28492532|PMID:29735374|PMID:30634555|PMID:31060578|PMID:34973561|PMID:35286480|PMID:37527940|PMID:38544965
1309279	Tk2	thymidine kinase 2	gene	DOID:0111523	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3		ISO	RGD:1319538	D	RGD:7240710	20190315	OMIM			
1309279	Tk2	thymidine kinase 2	gene	DOID:0111523	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3		ISO	RGD:1319538	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | ClinVar Annotator: match by term: TK2-related condition	PMID:12391347|PMID:12873860|PMID:15639197|PMID:16504786|PMID:16908738|PMID:18508266|PMID:19265691|PMID:20421844|PMID:21937588|PMID:22345218|PMID:23303857|PMID:23932787|PMID:23963299|PMID:24033266|PMID:24484525|PMID:25446393|PMID:25741868|PMID:25948719|PMID:26224072|PMID:26467025|PMID:27839525|PMID:28207748|PMID:28492532|PMID:28812460|PMID:29602790|PMID:29735374|PMID:30831263|PMID:31060578|PMID:31125140|PMID:32904881|PMID:33087887|PMID:35286480|PMID:35907766|PMID:37377599|PMID:38177409|PMID:38544965|PMID:40089535
1309279	Tk2	thymidine kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309279	Tk2	thymidine kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1319538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309279	Tk2	thymidine kinase 2	gene	DOID:423	myopathy		ISO	RGD:1319538	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:22345218|PMID:26224072|PMID:31125140
1309279	Tk2	thymidine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309279	Tk2	thymidine kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1319538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12682338|PMID:19154348|PMID:19265691|PMID:20421844|PMID:25741868|PMID:25948719|PMID:28492532|PMID:29735374|PMID:30634555|PMID:31060578|PMID:34973561|PMID:35286480|PMID:37527940|PMID:38544965
1309279	Tk2	thymidine kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309279	Tk2	thymidine kinase 2	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1319538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: mitochondrial myopathy	PMID:25741868|PMID:33486010
1309279	Tk2	thymidine kinase 2	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1319538	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder	PMID:12493767|PMID:12655576|PMID:12682338|PMID:15639197|PMID:16199547|PMID:16504786|PMID:16908738|PMID:17266931|PMID:17280874|PMID:18446447|PMID:18508266|PMID:19125351|PMID:19154348|PMID:19233899|PMID:19265691|PMID:19748572|PMID:20421844|PMID:22074768|PMID:22345218|PMID:23054556|PMID:23932787|PMID:24198295|PMID:24953930|PMID:25058219|PMID:25446393|PMID:25741868|PMID:25948719|PMID:26224072|PMID:27393689|PMID:27660820|PMID:27839525|PMID:28207748|PMID:28492532|PMID:29602790|PMID:29735374|PMID:29783828|PMID:30634555|PMID:30831263|PMID:31060578|PMID:31125140|PMID:32112389|PMID:32572108|PMID:32654952|PMID:33087887|PMID:34484922|PMID:34758700|PMID:34973561|PMID:35280287|PMID:35286480|PMID:35289132|PMID:35907766|PMID:37527940|PMID:37715114|PMID:38374194|PMID:38544965|PMID:38703036|PMID:38831166|PMID:39118480|PMID:40030095|PMID:40089535|PMID:40098049
1309279	Tk2	thymidine kinase 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1319538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:12682338|PMID:19154348|PMID:19265691|PMID:20421844|PMID:25741868|PMID:25948719|PMID:28492532|PMID:29735374|PMID:30634555|PMID:31060578|PMID:34973561|PMID:35286480|PMID:37527940|PMID:38544965
1309279	Tk2	thymidine kinase 2	gene	DOID:9000590	Dyspnea		ISO	RGD:1319538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:12682338|PMID:19154348|PMID:19265691|PMID:20421844|PMID:25741868|PMID:25948719|PMID:28492532|PMID:29735374|PMID:30634555|PMID:31060578|PMID:34973561|PMID:35286480|PMID:37527940|PMID:38544965
1309279	Tk2	thymidine kinase 2	gene	DOID:9002774	Mitochondrial DNA Depletion Syndrome, Myopathic Form		ISO	RGD:1319538	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, myopathic form	PMID:12682338|PMID:15639197|PMID:16504786|PMID:17576681|PMID:18508266|PMID:19154348|PMID:19265691|PMID:20421844|PMID:22345218|PMID:25446393|PMID:25741868|PMID:25948719|PMID:26224072|PMID:27660820|PMID:28207748|PMID:28492532|PMID:29602790|PMID:29735374|PMID:30634555|PMID:30831263|PMID:31060578|PMID:31125140|PMID:33087887|PMID:33486010|PMID:34973561|PMID:35280287|PMID:35286480|PMID:35907766|PMID:37527940|PMID:38544965|PMID:38703036|PMID:40089535|PMID:9536098
1309279	Tk2	thymidine kinase 2	gene	DOID:9006617	Fatigue		ISO	RGD:1319538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:12682338|PMID:19154348|PMID:19265691|PMID:20421844|PMID:25741868|PMID:25948719|PMID:28492532|PMID:29735374|PMID:30634555|PMID:31060578|PMID:34973561|PMID:35286480|PMID:37527940|PMID:38544965
1309279	Tk2	thymidine kinase 2	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1319538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:19736010|PMID:20421844|PMID:23932787|PMID:25741868|PMID:28492532
1309279	Tk2	thymidine kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309279	Tk2	thymidine kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1319538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309280	Rfc5	replication factor C subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309280	Rfc5	replication factor C subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1319540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309280	Rfc5	replication factor C subunit 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309280	Rfc5	replication factor C subunit 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309280	Rfc5	replication factor C subunit 5	gene	DOID:4362	cervical cancer		ISO	RGD:1319540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309280	Rfc5	replication factor C subunit 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1319540	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309280	Rfc5	replication factor C subunit 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309280	Rfc5	replication factor C subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309280	Rfc5	replication factor C subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309280	Rfc5	replication factor C subunit 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309281	Shkbp1	Sh3kbp1 binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309281	Shkbp1	Sh3kbp1 binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309281	Shkbp1	Sh3kbp1 binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309281	Shkbp1	Sh3kbp1 binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309281	Shkbp1	Sh3kbp1 binding protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1352927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309281	Shkbp1	Sh3kbp1 binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1352927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309281	Shkbp1	Sh3kbp1 binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352927	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309281	Shkbp1	Sh3kbp1 binding protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309281	Shkbp1	Sh3kbp1 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309281	Shkbp1	Sh3kbp1 binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309281	Shkbp1	Sh3kbp1 binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309281	Shkbp1	Sh3kbp1 binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309282	Rnf10	ring finger protein 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309282	Rnf10	ring finger protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309282	Rnf10	ring finger protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309282	Rnf10	ring finger protein 10	gene	DOID:1115	sarcoma		ISO	RGD:1319543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309282	Rnf10	ring finger protein 10	gene	DOID:1324	lung cancer		ISO	RGD:1319543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309282	Rnf10	ring finger protein 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309282	Rnf10	ring finger protein 10	gene	DOID:3070	high grade glioma		ISO	RGD:1319543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309282	Rnf10	ring finger protein 10	gene	DOID:3275	thymoma		ISO	RGD:1319543	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309282	Rnf10	ring finger protein 10	gene	DOID:4362	cervical cancer		ISO	RGD:1319543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309282	Rnf10	ring finger protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309282	Rnf10	ring finger protein 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309282	Rnf10	ring finger protein 10	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:1319543	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: therapeutic	PMID:36740146
1309282	Rnf10	ring finger protein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309282	Rnf10	ring finger protein 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309283	Sncaip	synuclein, alpha interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1319545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309283	Sncaip	synuclein, alpha interacting protein	gene	DOID:14330	Parkinson's disease		ISO	RGD:1319545	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive	PMID:25741868|PMID:28492532
1309283	Sncaip	synuclein, alpha interacting protein	gene	DOID:1909	melanoma		ISO	RGD:1319545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309283	Sncaip	synuclein, alpha interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1319545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309283	Sncaip	synuclein, alpha interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1319545	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309283	Sncaip	synuclein, alpha interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309283	Sncaip	synuclein, alpha interacting protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319545	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1603312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures		ISO	RGD:1603312	D	RGD:7240710	20201216	OMIM			
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures		ISO	RGD:1603312	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES | ClinVar Annotator: match by term: Intellectual developmental disorder with autistic features and language delay, with or without seizures | ClinVar Annotator: match by term: TANC2-related condition	PMID:25741868|PMID:28492532|PMID:28754924|PMID:31616000|PMID:33875846|PMID:35599849|PMID:40110879
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0090129	carnitine palmitoyltransferase I deficiency		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency	PMID:25741868
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1603312	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23033978|PMID:25741868|PMID:28754924|PMID:30021165|PMID:31616000
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:10907	microcephaly		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:11830	myopia		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:12849	autistic disorder		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: autistic behavior	PMID:25741868|PMID:29070031
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1596	depressive disorder		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1603312	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1909	melanoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:5419	schizophrenia		ISO	RGD:1603312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:630	genetic disease		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28191890|PMID:28490743|PMID:28518168|PMID:32461654|PMID:34615535
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9000227	Hypogonadism and Testicular Atrophy		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Testicular atrophy	PMID:25741868
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9001031	Retrognathia		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9001722	Dysarthria		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:29070031
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603312	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9007776	Hemianopsia		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bitemporal hemianopia	PMID:25741868
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:29070031|PMID:31616000
1309285	Tanc2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental Delay | ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:29070031
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:0050938	breast lobular carcinoma		ISO	RGD:1319551	D	RGD:11554173	20201012	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:1115	sarcoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:1324	lung cancer		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:3275	thymoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:4362	cervical cancer		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1319551	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:9004872	Congenital Infantile Lactic Acidosis		ISO	RGD:1319551	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital lactic acidosis	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319551	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309287	Ppp1r12b	protein phosphatase 1, regulatory subunit 12B	gene	DOID:9256	colorectal cancer		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309288	Iyd	iodotyrosine deiodinase	gene	DOID:0112188	thyroid dyshormonogenesis 4		ISO	RGD:1345868	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1309288	Iyd	iodotyrosine deiodinase	gene	DOID:0112188	thyroid dyshormonogenesis 4		ISO	RGD:1345868	D	RGD:7240710	20130221	OMIM			
1309288	Iyd	iodotyrosine deiodinase	gene	DOID:0112188	thyroid dyshormonogenesis 4		ISO	RGD:1345868	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IYD-related condition | ClinVar Annotator: match by term: THYROID DYSHORMONOGENESIS 4	PMID:18434651|PMID:18765512|PMID:25741868|PMID:28492532|PMID:39106437
1309288	Iyd	iodotyrosine deiodinase	gene	DOID:1324	lung cancer		ISO	RGD:1345868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309288	Iyd	iodotyrosine deiodinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1345868	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309288	Iyd	iodotyrosine deiodinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:25938944|PMID:26559593|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1319554	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25938944
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:25938944|PMID:26559593|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:0080411	familial adenomatous polyposis 3		ISO	RGD:1319554	D	RGD:7240710	20170329	OMIM			
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:0080411	familial adenomatous polyposis 3		ISO	RGD:1319554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial adenomatous polyposis 3 | ClinVar Annotator: match by term: NTHL1-deficiency tumor predisposition syndrome | ClinVar Annotator: match by term: NTHL1-related condition	PMID:12840008|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25938944|PMID:26214590|PMID:26467025|PMID:26559593|PMID:27329137|PMID:28492532|PMID:28912133|PMID:29625052|PMID:30267214|PMID:30552997|PMID:30753826|PMID:31220976|PMID:31227763|PMID:31285513|PMID:31360874|PMID:32300177|PMID:32704608|PMID:33087284|PMID:33454955|PMID:33980861|PMID:34250384|PMID:34994648|PMID:35273153|PMID:35304488|PMID:9536098
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:11830	myopia		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:25938944|PMID:26559593|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:25938944|PMID:26559593|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:25938944|PMID:26559593|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:25938944|PMID:26559593|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868|PMID:25938944|PMID:26559593|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:3459	breast carcinoma		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:25938944|PMID:26559593|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:25938944|PMID:26559593|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prostate neoplasm	PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:25938944|PMID:26559593|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:25938944|PMID:26559593|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9006741	Acute Hepatitis		IEP		D	RGD:11568659|PMID:20033472	20161209	RGD			
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319554	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:12144783|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:25741868|PMID:25938944|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29909963|PMID:30552997|PMID:30753826|PMID:31227763|PMID:31285513|PMID:31360874|PMID:31942411|PMID:33193653|PMID:9536098
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319554	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31942411|PMID:32091409|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:9536098
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319554	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26076356|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31645984|PMID:31942411|PMID:32091409|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:34871433|PMID:34994648|PMID:35128723|PMID:37088804|PMID:37353797|PMID:37460928|PMID:9536098|PMID:9705289
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319554	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31645984|PMID:31942411|PMID:32091409|PMID:32239880|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:34367820|PMID:34871433|PMID:34994648|PMID:35128723|PMID:36279116|PMID:36451132|PMID:37088804|PMID:37353797|PMID:37460928|PMID:8990169|PMID:9045706|PMID:9536098|PMID:9705289
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319554	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26214590|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31645984|PMID:31672974|PMID:31942411|PMID:32091409|PMID:32239880|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:34117267|PMID:34367820|PMID:34871433|PMID:34994648|PMID:35128723|PMID:35273153|PMID:35304488|PMID:35739269|PMID:36196035|PMID:36279116|PMID:36451132|PMID:37088804|PMID:37353797|PMID:37460928|PMID:38724173|PMID:8990169|PMID:9045706|PMID:9536098|PMID:9705289
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319554	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26214590|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:30859360|PMID:31220976|PMID:31227763|PMID:31243857|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31645984|PMID:31672974|PMID:31942411|PMID:32091409|PMID:32239880|PMID:32300177|PMID:32581083|PMID:32595826|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:34117267|PMID:34250384|PMID:34367820|PMID:34704405|PMID:34871433|PMID:34994648|PMID:35128723|PMID:35273153|PMID:35304488|PMID:35739269|PMID:36196035|PMID:36279116|PMID:36451132|PMID:37088804|PMID:37353797|PMID:37460928|PMID:37834005|PMID:38724173|PMID:8990169|PMID:9045706|PMID:9536098|PMID:9705289
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319554	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26214590|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:30859360|PMID:31220976|PMID:31227763|PMID:31243857|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31645984|PMID:31672974|PMID:31942411|PMID:32091409|PMID:32239880|PMID:32300177|PMID:32581083|PMID:32595826|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:34117267|PMID:34250384|PMID:34367820|PMID:34704405|PMID:34871433|PMID:34994648|PMID:35128723|PMID:35273153|PMID:35304488|PMID:35739269|PMID:36279116|PMID:36451132|PMID:37088804|PMID:37353797|PMID:37460928|PMID:37834005|PMID:38724173|PMID:8990169|PMID:9045706|PMID:9536098|PMID:9705289
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12840008|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26467025|PMID:26559593|PMID:27329137|PMID:28492532|PMID:28912133|PMID:29625052|PMID:30267214|PMID:30552997|PMID:30753826|PMID:31220976|PMID:31227763|PMID:31285513|PMID:31360874|PMID:32239880|PMID:32300177|PMID:32704608|PMID:33087284|PMID:33454955|PMID:33980861|PMID:34250384|PMID:34367820|PMID:34994648|PMID:35273153|PMID:35304488|PMID:36196035|PMID:36279116|PMID:36451132|PMID:8990169|PMID:9045706|PMID:9536098|PMID:9705289
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:25938944|PMID:26559593|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9007736	Vertigo		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:25938944|PMID:26559593|PMID:28492532
1309289	Nthl1	nth-like DNA glycosylase 1	gene	DOID:9970	obesity		ISO	RGD:1319554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:25938944|PMID:26559593|PMID:28492532
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:10534	stomach cancer		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:1115	sarcoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:1324	lung cancer		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:1909	melanoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:3070	high grade glioma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:3275	thymoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:4362	cervical cancer		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1319556	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309290	Supt6h	SPT6 homolog, histone chaperone and transcription elongation factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309292	Nacc2	NACC family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309292	Nacc2	NACC family member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309292	Nacc2	NACC family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309292	Nacc2	NACC family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309292	Nacc2	NACC family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309293	Spry1	sprouty RTK signaling antagonist 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309293	Spry1	sprouty RTK signaling antagonist 1	gene	DOID:630	genetic disease		ISO	RGD:1319561	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11983899
1309293	Spry1	sprouty RTK signaling antagonist 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309295	Cdc37l1	cell division cycle 37-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309295	Cdc37l1	cell division cycle 37-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309295	Cdc37l1	cell division cycle 37-like 1	gene	DOID:1909	melanoma		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309295	Cdc37l1	cell division cycle 37-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309295	Cdc37l1	cell division cycle 37-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309295	Cdc37l1	cell division cycle 37-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309295	Cdc37l1	cell division cycle 37-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309295	Cdc37l1	cell division cycle 37-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319564	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309295	Cdc37l1	cell division cycle 37-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309296	Ell2	elongation factor for RNA polymerase II 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309296	Ell2	elongation factor for RNA polymerase II 2	gene	DOID:0060058	lymphoma		ISO	RGD:1319566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309296	Ell2	elongation factor for RNA polymerase II 2	gene	DOID:0080600	COVID-19		ISO	RGD:1319566	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309296	Ell2	elongation factor for RNA polymerase II 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309296	Ell2	elongation factor for RNA polymerase II 2	gene	DOID:3275	thymoma		ISO	RGD:1319566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309296	Ell2	elongation factor for RNA polymerase II 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309296	Ell2	elongation factor for RNA polymerase II 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309296	Ell2	elongation factor for RNA polymerase II 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309296	Ell2	elongation factor for RNA polymerase II 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309296	Ell2	elongation factor for RNA polymerase II 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1319566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309297	Mrpl52	mitochondrial ribosomal protein L52	gene	DOID:10534	stomach cancer		ISO	RGD:1319568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309297	Mrpl52	mitochondrial ribosomal protein L52	gene	DOID:1115	sarcoma		ISO	RGD:1319568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309297	Mrpl52	mitochondrial ribosomal protein L52	gene	DOID:1324	lung cancer		ISO	RGD:1319568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309297	Mrpl52	mitochondrial ribosomal protein L52	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309297	Mrpl52	mitochondrial ribosomal protein L52	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309297	Mrpl52	mitochondrial ribosomal protein L52	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309297	Mrpl52	mitochondrial ribosomal protein L52	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL	
1309299	Mmel1	membrane metallo-endopeptidase-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309299	Mmel1	membrane metallo-endopeptidase-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309299	Mmel1	membrane metallo-endopeptidase-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1603610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309299	Mmel1	membrane metallo-endopeptidase-like 1	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1603610	D	RGD:11554173	20250819	CTD		CTD Direct Evidence: marker/mechanism	PMID:20639879
1309299	Mmel1	membrane metallo-endopeptidase-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309299	Mmel1	membrane metallo-endopeptidase-like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309299	Mmel1	membrane metallo-endopeptidase-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309299	Mmel1	membrane metallo-endopeptidase-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309299	Mmel1	membrane metallo-endopeptidase-like 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1603610	D	RGD:11554173	20250819	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
1309302	Rnf151	ring finger protein 151	gene	DOID:1115	sarcoma		ISO	RGD:1319576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309303	Cers4	ceramide synthase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309303	Cers4	ceramide synthase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309303	Cers4	ceramide synthase 4	gene	DOID:1115	sarcoma		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309303	Cers4	ceramide synthase 4	gene	DOID:1324	lung cancer		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309303	Cers4	ceramide synthase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309303	Cers4	ceramide synthase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309303	Cers4	ceramide synthase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1319578	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309303	Cers4	ceramide synthase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309303	Cers4	ceramide synthase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309303	Cers4	ceramide synthase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309303	Cers4	ceramide synthase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309304	Spred2	sprouty-related, EVH1 domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309304	Spred2	sprouty-related, EVH1 domain containing 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319580	D	RGD:11554173	20210413	CTD		CTD Direct Evidence: marker/mechanism	PMID:33589840
1309304	Spred2	sprouty-related, EVH1 domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1319580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309304	Spred2	sprouty-related, EVH1 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319580	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309304	Spred2	sprouty-related, EVH1 domain containing 2	gene	DOID:4480	achondroplasia		ISS	RGD:1319581	D	RGD:13592920	20180518	MouseDO		OMIM:100800	
1309304	Spred2	sprouty-related, EVH1 domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319580	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309304	Spred2	sprouty-related, EVH1 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309304	Spred2	sprouty-related, EVH1 domain containing 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842|PMID:23143596
1309304	Spred2	sprouty-related, EVH1 domain containing 2	gene	DOID:9001824	Noonan Syndrome 14		ISO	RGD:1319580	D	RGD:7240710	20220223	OMIM			
1309304	Spred2	sprouty-related, EVH1 domain containing 2	gene	DOID:9001824	Noonan Syndrome 14		ISO	RGD:1319580	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NOONAN SYNDROME 14 | ClinVar Annotator: match by term: Noonan syndrome 14	PMID:25741868
1309304	Spred2	sprouty-related, EVH1 domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309304	Spred2	sprouty-related, EVH1 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309304	Spred2	sprouty-related, EVH1 domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309305	Slc39a12	solute carrier family 39 member 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309305	Slc39a12	solute carrier family 39 member 12	gene	DOID:1115	sarcoma		ISO	RGD:1319582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309305	Slc39a12	solute carrier family 39 member 12	gene	DOID:1909	melanoma		ISO	RGD:1319582	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1309305	Slc39a12	solute carrier family 39 member 12	gene	DOID:1909	melanoma		ISO	RGD:1319582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309305	Slc39a12	solute carrier family 39 member 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1319582	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309305	Slc39a12	solute carrier family 39 member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309305	Slc39a12	solute carrier family 39 member 12	gene	DOID:9006102	Right Ventricular Hypertrophy		IMP		D	RGD:10401832|PMID:26258299	20200130	RGD			
1309305	Slc39a12	solute carrier family 39 member 12	gene	DOID:9006102	Right Ventricular Hypertrophy	severity	IMP	XCO:0000010	D	RGD:10401832|PMID:26258299	20201210	RGD			
1309305	Slc39a12	solute carrier family 39 member 12	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced		IMP		D	RGD:10401832|PMID:26258299	20200130	RGD			
1309305	Slc39a12	solute carrier family 39 member 12	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	severity	IMP	XCO:0000010	D	RGD:10401832|PMID:26258299	20201210	RGD			
1309306	Mdm4	MDM4 regulator of p53	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309306	Mdm4	MDM4 regulator of p53	gene	DOID:10316	pneumoconiosis		ISO	RGD:1319584	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
1309306	Mdm4	MDM4 regulator of p53	gene	DOID:10652	Alzheimer's disease	disease_progression	ISO	RGD:1319584	D	RGD:10047419|PMID:23861893	20150713	RGD			
1309306	Mdm4	MDM4 regulator of p53	gene	DOID:1115	sarcoma		ISO	RGD:1319584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309306	Mdm4	MDM4 regulator of p53	gene	DOID:12930	dilated cardiomyopathy		ISS	RGD:1319585	D	RGD:13592920	20180518	MouseDO			
1309306	Mdm4	MDM4 regulator of p53	gene	DOID:3068	glioblastoma		ISO	RGD:1319584	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20472715
1309306	Mdm4	MDM4 regulator of p53	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309306	Mdm4	MDM4 regulator of p53	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309306	Mdm4	MDM4 regulator of p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309306	Mdm4	MDM4 regulator of p53	gene	DOID:9003643	Bone Marrow Failure Syndrome 6		ISO	RGD:1319584	D	RGD:7240710	20200429	OMIM			
1309306	Mdm4	MDM4 regulator of p53	gene	DOID:9003643	Bone Marrow Failure Syndrome 6		ISO	RGD:1319584	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bone marrow failure syndrome 6 | ClinVar Annotator: match by term: MDM4-related disorder	PMID:25741868
1309306	Mdm4	MDM4 regulator of p53	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309306	Mdm4	MDM4 regulator of p53	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319584	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23535733
1309307	Sdr39u1	short chain dehydrogenase/reductase family 39U, member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309307	Sdr39u1	short chain dehydrogenase/reductase family 39U, member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309307	Sdr39u1	short chain dehydrogenase/reductase family 39U, member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309307	Sdr39u1	short chain dehydrogenase/reductase family 39U, member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309308	Ufl1	Ufm1-specific ligase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309308	Ufl1	Ufm1-specific ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309308	Ufl1	Ufm1-specific ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309308	Ufl1	Ufm1-specific ligase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309308	Ufl1	Ufm1-specific ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:1319587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309308	Ufl1	Ufm1-specific ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309308	Ufl1	Ufm1-specific ligase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309308	Ufl1	Ufm1-specific ligase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309308	Ufl1	Ufm1-specific ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319587	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309308	Ufl1	Ufm1-specific ligase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309308	Ufl1	Ufm1-specific ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309308	Ufl1	Ufm1-specific ligase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309308	Ufl1	Ufm1-specific ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309308	Ufl1	Ufm1-specific ligase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309309	Irx4	iroquois homeobox 4	gene	DOID:0060058	lymphoma		ISO	RGD:1319589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309309	Irx4	iroquois homeobox 4	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1319589	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1309309	Irx4	iroquois homeobox 4	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1319589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1309309	Irx4	iroquois homeobox 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1319589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1309309	Irx4	iroquois homeobox 4	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1319589	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868
1309309	Irx4	iroquois homeobox 4	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1319589	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1309309	Irx4	iroquois homeobox 4	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1319590	D	RGD:1582289|PMID:11238910	20061103	RGD			
1309309	Irx4	iroquois homeobox 4	gene	DOID:9003959	Ventricular Septal Defect 1		ISO	RGD:1319589	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect 1	
1309312	Atcay	ATCAY kinesin light chain interacting caytaxin	gene	DOID:0050753	cerebellar ataxia	susceptibility	ISO	RGD:1319593	D	RGD:1599348|PMID:14556008	20070130	RGD			
1309312	Atcay	ATCAY kinesin light chain interacting caytaxin	gene	DOID:0060694	Cayman type cerebellar ataxia		ISO	RGD:1319593	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1309312	Atcay	ATCAY kinesin light chain interacting caytaxin	gene	DOID:0060694	Cayman type cerebellar ataxia		ISO	RGD:1319593	D	RGD:7240710	20130221	OMIM			
1309312	Atcay	ATCAY kinesin light chain interacting caytaxin	gene	DOID:0060694	Cayman type cerebellar ataxia		ISO	RGD:1319593	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATCAY-related condition | ClinVar Annotator: match by term: CAYMAN ATAXIA | ClinVar Annotator: match by term: Cayman type cerebellar ataxia	PMID:25741868|PMID:28492532
1309312	Atcay	ATCAY kinesin light chain interacting caytaxin	gene	DOID:0060694	Cayman type cerebellar ataxia		ISS	RGD:1617620	D	RGD:13592920	20230718	MouseDO		OMIM:601238	
1309312	Atcay	ATCAY kinesin light chain interacting caytaxin	gene	DOID:543	dystonia		IAGP		D	RGD:5133436|PMID:16246457	20070130	RGD		DNA:insertion:intron (rat)	
1309312	Atcay	ATCAY kinesin light chain interacting caytaxin	gene	DOID:543	dystonia		ISO	RGD:1617620	D	RGD:1599348|PMID:14556008	20110617	RGD		DNA:insertions, deletion:intron, exons (mouse)	
1309312	Atcay	ATCAY kinesin light chain interacting caytaxin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309312	Atcay	ATCAY kinesin light chain interacting caytaxin	gene	DOID:630	genetic disease		ISO	RGD:1319593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309312	Atcay	ATCAY kinesin light chain interacting caytaxin	gene	DOID:9004866	Ataxia		ISO	RGD:1617620	D	RGD:1599348|PMID:14556008	20110617	RGD		DNA:insertions, deletion:intron, exons (mouse)	
1309312	Atcay	ATCAY kinesin light chain interacting caytaxin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL	
1309313	Slc68a1	solute carrier family 68 member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309313	Slc68a1	solute carrier family 68 member 1	gene	DOID:1115	sarcoma		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309313	Slc68a1	solute carrier family 68 member 1	gene	DOID:1909	melanoma		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309313	Slc68a1	solute carrier family 68 member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309313	Slc68a1	solute carrier family 68 member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309313	Slc68a1	solute carrier family 68 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309313	Slc68a1	solute carrier family 68 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309313	Slc68a1	solute carrier family 68 member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309313	Slc68a1	solute carrier family 68 member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309314	Accs	1-aminocyclopropane-1-carboxylate synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309314	Accs	1-aminocyclopropane-1-carboxylate synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309314	Accs	1-aminocyclopropane-1-carboxylate synthase	gene	DOID:0080600	COVID-19		ISO	RGD:1606762	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309314	Accs	1-aminocyclopropane-1-carboxylate synthase	gene	DOID:10534	stomach cancer		ISO	RGD:1606762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309314	Accs	1-aminocyclopropane-1-carboxylate synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309314	Accs	1-aminocyclopropane-1-carboxylate synthase	gene	DOID:1324	lung cancer		ISO	RGD:1606762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309314	Accs	1-aminocyclopropane-1-carboxylate synthase	gene	DOID:1909	melanoma		ISO	RGD:1606762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309314	Accs	1-aminocyclopropane-1-carboxylate synthase	gene	DOID:4362	cervical cancer		ISO	RGD:1606762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309314	Accs	1-aminocyclopropane-1-carboxylate synthase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309314	Accs	1-aminocyclopropane-1-carboxylate synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:1606762	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309314	Accs	1-aminocyclopropane-1-carboxylate synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309314	Accs	1-aminocyclopropane-1-carboxylate synthase	gene	DOID:6039	uveal melanoma		ISO	RGD:1606762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309314	Accs	1-aminocyclopropane-1-carboxylate synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309314	Accs	1-aminocyclopropane-1-carboxylate synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309315	Kgd4	alpha-ketoglutarate dehydrogenase subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1319596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309315	Kgd4	alpha-ketoglutarate dehydrogenase subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1319596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309315	Kgd4	alpha-ketoglutarate dehydrogenase subunit 4	gene	DOID:3652	Leigh disease		ISO	RGD:1319596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leigh Syndrome	
1309315	Kgd4	alpha-ketoglutarate dehydrogenase subunit 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309315	Kgd4	alpha-ketoglutarate dehydrogenase subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1319596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309315	Kgd4	alpha-ketoglutarate dehydrogenase subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1319596	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309316	Sack1e	scaffolding CK1 anchoring protein E	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309316	Sack1e	scaffolding CK1 anchoring protein E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309316	Sack1e	scaffolding CK1 anchoring protein E	gene	DOID:10534	stomach cancer		ISO	RGD:1606549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309316	Sack1e	scaffolding CK1 anchoring protein E	gene	DOID:1324	lung cancer		ISO	RGD:1606549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309316	Sack1e	scaffolding CK1 anchoring protein E	gene	DOID:4362	cervical cancer		ISO	RGD:1606549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309316	Sack1e	scaffolding CK1 anchoring protein E	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309316	Sack1e	scaffolding CK1 anchoring protein E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309317	Slc2a6	solute carrier family 2 member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309317	Slc2a6	solute carrier family 2 member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309317	Slc2a6	solute carrier family 2 member 6	gene	DOID:1324	lung cancer		ISO	RGD:1319599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309317	Slc2a6	solute carrier family 2 member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309317	Slc2a6	solute carrier family 2 member 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319599	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309318	Adcy1	adenylate cyclase 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:1319601	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16914643
1309318	Adcy1	adenylate cyclase 1	gene	DOID:0110501	autosomal recessive nonsyndromic deafness 44		ISO	RGD:1319601	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309318	Adcy1	adenylate cyclase 1	gene	DOID:0110501	autosomal recessive nonsyndromic deafness 44		ISO	RGD:1319601	D	RGD:7240710	20140723	OMIM			
1309318	Adcy1	adenylate cyclase 1	gene	DOID:0110501	autosomal recessive nonsyndromic deafness 44		ISO	RGD:1319601	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADCY1-related condition | ClinVar Annotator: match by term: Deafness autosomal recessive 44	PMID:24033266|PMID:24482543|PMID:25741868|PMID:26467025|PMID:28492532
1309318	Adcy1	adenylate cyclase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309318	Adcy1	adenylate cyclase 1	gene	DOID:1115	sarcoma		ISO	RGD:1319601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309318	Adcy1	adenylate cyclase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309318	Adcy1	adenylate cyclase 1	gene	DOID:1909	melanoma		ISO	RGD:1319601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309318	Adcy1	adenylate cyclase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309318	Adcy1	adenylate cyclase 1	gene	DOID:3275	thymoma		ISO	RGD:1319601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309318	Adcy1	adenylate cyclase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309318	Adcy1	adenylate cyclase 1	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1319601	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1309318	Adcy1	adenylate cyclase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309318	Adcy1	adenylate cyclase 1	gene	DOID:630	genetic disease		ISO	RGD:1319601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309318	Adcy1	adenylate cyclase 1	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1319601	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16914643
1309318	Adcy1	adenylate cyclase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309318	Adcy1	adenylate cyclase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309319	Spsb1	splA/ryanodine receptor domain and SOCS box containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309319	Spsb1	splA/ryanodine receptor domain and SOCS box containing 1	gene	DOID:3275	thymoma		ISO	RGD:1604788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309319	Spsb1	splA/ryanodine receptor domain and SOCS box containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309319	Spsb1	splA/ryanodine receptor domain and SOCS box containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309319	Spsb1	splA/ryanodine receptor domain and SOCS box containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309319	Spsb1	splA/ryanodine receptor domain and SOCS box containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309319	Spsb1	splA/ryanodine receptor domain and SOCS box containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:0111524	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5		ISO	RGD:1319604	D	RGD:7240710	20190821	OMIM			
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:0111524	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5		ISO	RGD:1319604	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	PMID:25741868|PMID:28492532|PMID:29290614|PMID:30057030|PMID:37013609
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1319604	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:1115	sarcoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:1909	melanoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1319604	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:630	genetic disease		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319604	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:24509834|PMID:25741868|PMID:37013609
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:9009217	Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2		ISO	RGD:1319604	D	RGD:7240710	20190315	OMIM			
1309320	Top3a	DNA topoisomerase III alpha	gene	DOID:9009217	Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 | ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 | ClinVar Annotator: match by term: TOP3A-related condition	PMID:25741868|PMID:28492532|PMID:30057030|PMID:37013609
1309321	Chrac1	chromatin accessibility complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309321	Chrac1	chromatin accessibility complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309321	Chrac1	chromatin accessibility complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309321	Chrac1	chromatin accessibility complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309321	Chrac1	chromatin accessibility complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309321	Chrac1	chromatin accessibility complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309322	Fem1c	fem-1 homolog C	gene	DOID:3275	thymoma		ISO	RGD:1319607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309322	Fem1c	fem-1 homolog C	gene	DOID:4362	cervical cancer		ISO	RGD:1319607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309322	Fem1c	fem-1 homolog C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309322	Fem1c	fem-1 homolog C	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319607	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28135719|PMID:36336956
1309323	Ltk	leukocyte receptor tyrosine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1319608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309323	Ltk	leukocyte receptor tyrosine kinase	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1319608	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1309323	Ltk	leukocyte receptor tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1319608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309323	Ltk	leukocyte receptor tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:1319608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309323	Ltk	leukocyte receptor tyrosine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309323	Ltk	leukocyte receptor tyrosine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1319608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309323	Ltk	leukocyte receptor tyrosine kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309323	Ltk	leukocyte receptor tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1319608	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309323	Ltk	leukocyte receptor tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309323	Ltk	leukocyte receptor tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309323	Ltk	leukocyte receptor tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309325	Trappc6b	trafficking protein particle complex subunit 6B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309325	Trappc6b	trafficking protein particle complex subunit 6B	gene	DOID:0060934	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy		ISO	RGD:1319611	D	RGD:7240710	20190315	OMIM			
1309325	Trappc6b	trafficking protein particle complex subunit 6B	gene	DOID:0060934	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy		ISO	RGD:1319611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | ClinVar Annotator: match by term: TRAPPC6B-related condition	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28397838|PMID:28490743|PMID:28492532|PMID:28626029|PMID:31231135|PMID:31687267|PMID:35887114|PMID:37713627
1309325	Trappc6b	trafficking protein particle complex subunit 6B	gene	DOID:10534	stomach cancer		ISO	RGD:1319611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309325	Trappc6b	trafficking protein particle complex subunit 6B	gene	DOID:1115	sarcoma		ISO	RGD:1319611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309325	Trappc6b	trafficking protein particle complex subunit 6B	gene	DOID:1324	lung cancer		ISO	RGD:1319611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309325	Trappc6b	trafficking protein particle complex subunit 6B	gene	DOID:4362	cervical cancer		ISO	RGD:1319611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309325	Trappc6b	trafficking protein particle complex subunit 6B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309325	Trappc6b	trafficking protein particle complex subunit 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309325	Trappc6b	trafficking protein particle complex subunit 6B	gene	DOID:630	genetic disease		ISO	RGD:1319611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309325	Trappc6b	trafficking protein particle complex subunit 6B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309325	Trappc6b	trafficking protein particle complex subunit 6B	gene	DOID:9256	colorectal cancer		ISO	RGD:1319611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532|PMID:28626029
1309327	Nxt1	nuclear transport factor 2-like export factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1319614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309327	Nxt1	nuclear transport factor 2-like export factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309328	Sec23ip	SEC23 interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309328	Sec23ip	SEC23 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309328	Sec23ip	SEC23 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309328	Sec23ip	SEC23 interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309328	Sec23ip	SEC23 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309328	Sec23ip	SEC23 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309328	Sec23ip	SEC23 interacting protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309328	Sec23ip	SEC23 interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309328	Sec23ip	SEC23 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309328	Sec23ip	SEC23 interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309328	Sec23ip	SEC23 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309328	Sec23ip	SEC23 interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0050535	exudative vitreoretinopathy		ISO	RGD:1319617	D	RGD:11554173	20200211	CTD		CTD Direct Evidence: marker/mechanism	PMID:29207047
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0050535	exudative vitreoretinopathy		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exudative vitreoretinopathy | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy	PMID:11719191|PMID:16199547|PMID:16252235|PMID:24715757|PMID:25711638|PMID:25741868|PMID:28041643|PMID:28492532|PMID:30452590|PMID:31299183|PMID:31987760|PMID:33118644|PMID:34860240
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0050535	exudative vitreoretinopathy		ISS	RGD:1319618	D	RGD:13592920	20230718	MouseDO			
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1319617	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital cystic disease of liver	PMID:25741868|PMID:28492532|PMID:30452590
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0060249	scoliosis		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0060282	persistent hyperplastic primary vitreous		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous	PMID:11719191|PMID:16252235|PMID:23744590|PMID:25323851|PMID:25711638|PMID:25741868|PMID:28492532|PMID:29565416|PMID:30894705|PMID:31827910
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0060849	osteoporosis-pseudoglioma syndrome		ISO	RGD:1319617	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18825883
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0060849	osteoporosis-pseudoglioma syndrome		ISO	RGD:1319617	D	RGD:12792277|PMID:11719191	20170315	RGD		DNA:mutations:cds:	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0060849	osteoporosis-pseudoglioma syndrome		ISO	RGD:1319617	D	RGD:12792280|PMID:16679074	20170315	RGD		DNA:mutations:cds:p.W478R,p.W504C(human)	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0060849	osteoporosis-pseudoglioma syndrome		ISO	RGD:1319617	D	RGD:7240710	20130221	OMIM			
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0060849	osteoporosis-pseudoglioma syndrome		ISO	RGD:1319617	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Osteoporosis with pseudoglioma	PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15141052|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16199547|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17052975|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17505772|PMID:17576681|PMID:17766366|PMID:17955262|PMID:18026682|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18602879|PMID:18932002|PMID:19023643|PMID:19324841|PMID:19673927|PMID:20034086|PMID:21116122|PMID:21407258|PMID:21528003|PMID:22025579|PMID:22456437|PMID:22511589|PMID:23077402|PMID:23441120|PMID:23744590|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25323851|PMID:25384351|PMID:25525159|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26244290|PMID:26348019|PMID:26355662|PMID:26467025|PMID:27124789|PMID:28041643|PMID:28192794|PMID:28222408|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28494495|PMID:29131652|PMID:29168297|PMID:29181528|PMID:30048462|PMID:30283887|PMID:30452590|PMID:30513533|PMID:30598549|PMID:30894705|PMID:31039433|PMID:31169861|PMID:31237656|PMID:31589614|PMID:31816670|PMID:31827910|PMID:31980526|PMID:31987760|PMID:32483926|PMID:32581362|PMID:33118644|PMID:33302760|PMID:33531964|PMID:33619830|PMID:33939331|PMID:34639175|PMID:34673960|PMID:34860240|PMID:35106624|PMID:35252483|PMID:35277167|PMID:35328049|PMID:35672425|PMID:35753512|PMID:35876299|PMID:35885997|PMID:36018796|PMID:36411543|PMID:36729443|PMID:38802968|PMID:8832721|PMID:9536098
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0060849	osteoporosis-pseudoglioma syndrome		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive LRP5-related disorders | ClinVar Annotator: match by term: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME | ClinVar Annotator: match by term: Osteoporosis with pseudoglioma	PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15141052|PMID:15143163|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16199547|PMID:16234968|PMID:16252235|PMID:16679074|PMID:16956801|PMID:17052975|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17576681|PMID:18026682|PMID:18058054|PMID:18349089|PMID:18588671|PMID:18602879|PMID:18721193|PMID:20034086|PMID:20045498|PMID:21116122|PMID:21407258|PMID:21528003|PMID:22025579|PMID:22456437|PMID:22487062|PMID:22511589|PMID:23077402|PMID:23441120|PMID:24423337|PMID:24715757|PMID:25525159|PMID:25711638|PMID:25741868|PMID:25829125|PMID:26244290|PMID:26348019|PMID:26355662|PMID:26467025|PMID:27228167|PMID:28192794|PMID:28222408|PMID:28251098|PMID:28378289|PMID:28420620|PMID:28492532|PMID:29055141|PMID:29131652|PMID:29168297|PMID:29181528|PMID:30097784|PMID:30283887|PMID:30452590|PMID:30894705|PMID:31039433|PMID:31169861|PMID:31237656|PMID:31589614|PMID:31816670|PMID:31987760|PMID:32581362|PMID:33118644|PMID:33302760|PMID:33781268|PMID:33939331|PMID:34639175|PMID:34673960|PMID:34860240|PMID:35106624|PMID:35252483|PMID:35328049|PMID:35393770|PMID:35672425|PMID:35754005|PMID:35876299|PMID:36018796|PMID:36411543|PMID:38625381|PMID:38881609|PMID:39316135|PMID:9536098
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0060849	osteoporosis-pseudoglioma syndrome		ISS	RGD:1319618	D	RGD:13592920	20230718	MouseDO		OMIM:259770	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0060977	polycystic liver disease 4		ISO	RGD:1319617	D	RGD:7240710	20190315	OMIM			
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0060977	polycystic liver disease 4		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS | ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts	PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15141052|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16252235|PMID:16679074|PMID:16956801|PMID:17052975|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17576681|PMID:18026682|PMID:18058054|PMID:18349089|PMID:18588671|PMID:18602879|PMID:18721193|PMID:20045498|PMID:20340138|PMID:21116122|PMID:21528003|PMID:22025579|PMID:22456437|PMID:22487062|PMID:22511589|PMID:23077402|PMID:23441120|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25711638|PMID:25741868|PMID:25829125|PMID:26244290|PMID:26348019|PMID:26467025|PMID:28192794|PMID:28222408|PMID:28251098|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28677207|PMID:29168297|PMID:29181528|PMID:30097784|PMID:30283887|PMID:30452590|PMID:31039433|PMID:31169861|PMID:31816670|PMID:33118644|PMID:33302760|PMID:33781268|PMID:33939331|PMID:34639175|PMID:34673960|PMID:34860240|PMID:35106624|PMID:35252483|PMID:35672425|PMID:35754005|PMID:36018796|PMID:37296477|PMID:38881609|PMID:39316135|PMID:9536098
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0060980	polycystic liver disease 1	susceptibility	IAGP		D	RGD:11063140|PMID:24706814	20191204	RGD		DNA:missense mutation:cds:p.R118W (3562C>T) (human)	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0080001	bone disease		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Disorder of bone	PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:18026682|PMID:18058054|PMID:18349089|PMID:18588671|PMID:21116122|PMID:22025579|PMID:22511589|PMID:25741868|PMID:26467025|PMID:28222408|PMID:28492532|PMID:30283887|PMID:33118644|PMID:33302760|PMID:33939331|PMID:34673960|PMID:35252483
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0080037	Worth syndrome		ISO	RGD:1319617	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0080037	Worth syndrome		ISO	RGD:1319617	D	RGD:7240710	20130221	OMIM			
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0080037	Worth syndrome		ISO	RGD:1319617	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Endosteal hyperostosis, autosomal dominant | ClinVar Annotator: match by term: OSTEOSCLEROSIS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Osteosclerosis of the skull and enlarged mandible | ClinVar Annotator: match by term: Worth disease	PMID:1002767|PMID:10434540|PMID:11701785|PMID:11719191|PMID:11883972|PMID:12015390|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15141052|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15940380|PMID:15981244|PMID:16199547|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17052975|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17576681|PMID:17955262|PMID:18026682|PMID:18058054|PMID:18349089|PMID:18521528|PMID:18588671|PMID:18602879|PMID:19324841|PMID:19673927|PMID:21116122|PMID:21528003|PMID:22025579|PMID:22456437|PMID:22511589|PMID:23077402|PMID:23318847|PMID:23441120|PMID:23744590|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25323851|PMID:25384351|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26244290|PMID:26348019|PMID:26355662|PMID:26467025|PMID:27124789|PMID:28192794|PMID:28222408|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28494495|PMID:29168297|PMID:29181528|PMID:30283887|PMID:30452590|PMID:30513533|PMID:31039433|PMID:31169861|PMID:31237656|PMID:31816670|PMID:31827910|PMID:31980526|PMID:32483926|PMID:33118644|PMID:33302760|PMID:33531964|PMID:33619830|PMID:33939331|PMID:34639175|PMID:34673960|PMID:34860240|PMID:35106624|PMID:35252483|PMID:35277167|PMID:35328049|PMID:35672425|PMID:35753512|PMID:35876299|PMID:35885997|PMID:36018796|PMID:36729443|PMID:37334733|PMID:38802968|PMID:9536098
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0080037	Worth syndrome		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: OSTEOSCLEROSIS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Worth disease	PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15141052|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16252235|PMID:16679074|PMID:16956801|PMID:17052975|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17576681|PMID:18026682|PMID:18058054|PMID:18349089|PMID:18521528|PMID:18588671|PMID:18602879|PMID:18721193|PMID:20045498|PMID:21116122|PMID:21528003|PMID:22025579|PMID:22456437|PMID:22487062|PMID:22511589|PMID:23077402|PMID:23318847|PMID:23441120|PMID:24423337|PMID:24715757|PMID:25711638|PMID:25741868|PMID:25829125|PMID:26244290|PMID:26348019|PMID:26467025|PMID:28192794|PMID:28222408|PMID:28251098|PMID:28378289|PMID:28420620|PMID:28492532|PMID:29168297|PMID:29181528|PMID:30097784|PMID:30283887|PMID:30452590|PMID:31039433|PMID:31169861|PMID:31816670|PMID:33118644|PMID:33302760|PMID:33781268|PMID:33939331|PMID:34639175|PMID:34673960|PMID:34860240|PMID:35106624|PMID:35252483|PMID:35672425|PMID:35754005|PMID:36018796|PMID:37334733|PMID:38625381|PMID:38881609|PMID:38909879|PMID:39316135|PMID:9536098
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1319617	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:25920554|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0110937	autosomal dominant osteopetrosis 1		ISO	RGD:1319617	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0110937	autosomal dominant osteopetrosis 1		ISO	RGD:1319617	D	RGD:7240710	20130221	OMIM			
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0110937	autosomal dominant osteopetrosis 1		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I	PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15141052|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16252235|PMID:16679074|PMID:16956801|PMID:17052975|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17576681|PMID:18026682|PMID:18058054|PMID:18349089|PMID:18521528|PMID:18588671|PMID:18602879|PMID:18721193|PMID:20045498|PMID:21116122|PMID:21528003|PMID:22025579|PMID:22456437|PMID:22487062|PMID:22511589|PMID:23077402|PMID:23318847|PMID:23441120|PMID:24423337|PMID:24715757|PMID:25711638|PMID:25741868|PMID:25829125|PMID:26244290|PMID:26348019|PMID:26467025|PMID:28192794|PMID:28222408|PMID:28251098|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28891484|PMID:29168297|PMID:29181528|PMID:30097784|PMID:30283887|PMID:30452590|PMID:31039433|PMID:31169861|PMID:31816670|PMID:33118644|PMID:33302760|PMID:33781268|PMID:33939331|PMID:34639175|PMID:34673960|PMID:34860240|PMID:35106624|PMID:35252483|PMID:35672425|PMID:35754005|PMID:36018796|PMID:36411543|PMID:37334733|PMID:38625381|PMID:38881609|PMID:38909879|PMID:39316135|PMID:9536098
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0111411	exudative vitreoretinopathy 4		ISO	RGD:1319617	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0111411	exudative vitreoretinopathy 4		ISO	RGD:1319617	D	RGD:7240710	20130221	OMIM			
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0111411	exudative vitreoretinopathy 4		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, digenic	PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15141052|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16199547|PMID:16252235|PMID:16679074|PMID:16956801|PMID:17052975|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17576681|PMID:17955262|PMID:18026682|PMID:18058054|PMID:18349089|PMID:18588671|PMID:18602879|PMID:18721193|PMID:20045498|PMID:21116122|PMID:21528003|PMID:22025579|PMID:22456437|PMID:22487062|PMID:22511589|PMID:23077402|PMID:23441120|PMID:23744590|PMID:24423337|PMID:24715757|PMID:25323851|PMID:25384351|PMID:25525159|PMID:25711638|PMID:25741868|PMID:25829125|PMID:26244290|PMID:26348019|PMID:26467025|PMID:28192794|PMID:28222408|PMID:28251098|PMID:28378289|PMID:28420620|PMID:28492532|PMID:29168297|PMID:29181528|PMID:29565416|PMID:30097784|PMID:30283887|PMID:30452590|PMID:30894705|PMID:31039433|PMID:31077665|PMID:31169861|PMID:31237656|PMID:31589614|PMID:31816670|PMID:31827910|PMID:31987760|PMID:32581362|PMID:33118644|PMID:33302760|PMID:33781268|PMID:33939331|PMID:34639175|PMID:34673960|PMID:34860240|PMID:35106624|PMID:35252483|PMID:35328049|PMID:35672425|PMID:35754005|PMID:35754085|PMID:36018796|PMID:38881609|PMID:39316135|PMID:9536098|PMID:9831343
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0111412	exudative vitreoretinopathy 1		ISO	RGD:1319617	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:0111412	exudative vitreoretinopathy 1		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant	PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16199547|PMID:16252235|PMID:16679074|PMID:16956801|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17576681|PMID:18026682|PMID:18058054|PMID:18349089|PMID:18588671|PMID:18721193|PMID:20045498|PMID:21116122|PMID:21528003|PMID:22025579|PMID:22456437|PMID:22487062|PMID:22511589|PMID:23441120|PMID:24423337|PMID:24715757|PMID:25711638|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28222408|PMID:28378289|PMID:28420620|PMID:28492532|PMID:29168297|PMID:30283887|PMID:30452590|PMID:33118644|PMID:33302760|PMID:33939331|PMID:34673960|PMID:35106624|PMID:35252483|PMID:35672425|PMID:39316135|PMID:9536098
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:1059	intellectual disability		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:10629	microphthalmia		ISO	RGD:1319617	D	RGD:12793059|PMID:28111184	20170320	RGD		DNA:mutation:splice junction:	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:10907	microcephaly		ISO	RGD:1319617	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:11111	hydronephrosis		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:11476	osteoporosis		ISO	RGD:1319617	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:11476	osteoporosis		ISO	RGD:1319617	D	RGD:1625350|PMID:17002564	20070604	RGD			
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:11476	osteoporosis		ISO	RGD:1319617	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis	PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15141052|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17052975|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17576681|PMID:18058054|PMID:18349089|PMID:18588671|PMID:18602879|PMID:19324841|PMID:21528003|PMID:22456437|PMID:23441120|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26348019|PMID:26467025|PMID:28192794|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28494495|PMID:29168297|PMID:29181528|PMID:30283887|PMID:30452590|PMID:31039433|PMID:33118644|PMID:33939331|PMID:34639175|PMID:34860240|PMID:35106624|PMID:9536098
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:11476	osteoporosis		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: Osteoporosis	PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16252235|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17576681|PMID:18026682|PMID:18058054|PMID:18349089|PMID:18588671|PMID:21116122|PMID:22025579|PMID:22456437|PMID:22511589|PMID:23441120|PMID:24423337|PMID:24715757|PMID:25741868|PMID:26467025|PMID:28222408|PMID:28492532|PMID:29168297|PMID:30283887|PMID:33118644|PMID:33302760|PMID:33939331|PMID:34673960|PMID:35252483|PMID:35672425|PMID:39316135|PMID:9536098
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:11476	osteoporosis	treatment	IEP		D	RGD:12793063|PMID:21977807	20170320	RGD			
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:11476	osteoporosis	treatment	IEP		D	RGD:7240519|PMID:22704852	20170320	RGD			
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:11830	myopia		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17576681|PMID:25741868|PMID:26244290|PMID:28492532|PMID:9536098
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:12176	goiter		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1319617	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18721193|PMID:18932002|PMID:19023643|PMID:24706814|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30452590|PMID:30894705
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1319617	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18721193|PMID:18932002|PMID:19023643|PMID:19324841|PMID:24706814|PMID:25711638|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30452590|PMID:30894705|PMID:33118644
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1319617	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18721193|PMID:18932002|PMID:19023643|PMID:19324841|PMID:24706814|PMID:25384351|PMID:25711638|PMID:25741868|PMID:26467025|PMID:28192794|PMID:28492532|PMID:28494495|PMID:30452590|PMID:30894705|PMID:33118644|PMID:34860240|PMID:35252483
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1319617	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18026682|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18721193|PMID:18932002|PMID:19023643|PMID:19324841|PMID:21116122|PMID:22025579|PMID:22511589|PMID:24706814|PMID:25384351|PMID:25711638|PMID:25741868|PMID:26467025|PMID:28192794|PMID:28222408|PMID:28492532|PMID:28494495|PMID:30283887|PMID:30452590|PMID:30894705|PMID:33118644|PMID:33302760|PMID:33939331|PMID:34673960|PMID:34860240|PMID:35252483
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1319617	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16199547|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18026682|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18721193|PMID:18932002|PMID:19023643|PMID:19324841|PMID:21116122|PMID:22025579|PMID:22511589|PMID:24706814|PMID:25384351|PMID:25711638|PMID:25741868|PMID:26467025|PMID:28192794|PMID:28222408|PMID:28492532|PMID:28494495|PMID:30283887|PMID:30452590|PMID:30894705|PMID:31237656|PMID:33118644|PMID:33302760|PMID:33939331|PMID:34673960|PMID:34860240|PMID:35252483|PMID:36018796
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16199547|PMID:16252235|PMID:16679074|PMID:16956801|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:18026682|PMID:18058054|PMID:18349089|PMID:18588671|PMID:18721193|PMID:19324841|PMID:20045498|PMID:21116122|PMID:22025579|PMID:22511589|PMID:23077402|PMID:25384351|PMID:25711638|PMID:25741868|PMID:25829125|PMID:26244290|PMID:26467025|PMID:28192794|PMID:28222408|PMID:28251098|PMID:28492532|PMID:29181528|PMID:30097784|PMID:30283887|PMID:30452590|PMID:31169861|PMID:33118644|PMID:33302760|PMID:33781268|PMID:33939331|PMID:34673960|PMID:34860240|PMID:35252483|PMID:35754005|PMID:36018796|PMID:38881609
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:12347	osteogenesis imperfecta	treatment	ISO	RGD:1319618	D	RGD:12792279|PMID:24677211	20170315	RGD			
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:12559	idiopathic juvenile osteoporosis		ISO	RGD:1319617	D	RGD:12793058|PMID:22487062	20170320	RGD		DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human)	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:12849	autistic disorder		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:13533	osteopetrosis		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HIGH BONE MASS | ClinVar Annotator: match by term: High bone mass	PMID:11741193|PMID:12015390|PMID:12579474|PMID:25741868|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1319617	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:18	urinary system disease		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the urinary system	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:1909	melanoma		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:1969	cerebral palsy		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1319617	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:12579474|PMID:18521528|PMID:23318847|PMID:25741868|PMID:26348019|PMID:28492532|PMID:37334733|PMID:38625381|PMID:38909879
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:2340	craniosynostosis		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:3275	thymoma		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:4079	heart valve disease		ISO	RGD:1319617	D	RGD:12793057|PMID:16631011	20170320	RGD		protein:increased expression:heart valve	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:5679	retinal disease		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:11719191|PMID:15024691|PMID:15824851|PMID:16199547|PMID:16252235|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25525159|PMID:25711638|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532|PMID:29181528|PMID:31237656|PMID:31299183|PMID:31589614|PMID:31987760|PMID:32581362|PMID:35328049
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:630	genetic disease		ISO	RGD:1319617	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11719191|PMID:15024691|PMID:15346351|PMID:16199547|PMID:16252235|PMID:21407258|PMID:23744590|PMID:25323851|PMID:25525159|PMID:25711638|PMID:25741868|PMID:28041643|PMID:28420620|PMID:28492532|PMID:29181528|PMID:29565416|PMID:30894705|PMID:31237656|PMID:31589614|PMID:31827910|PMID:31987760|PMID:32581362|PMID:34860240|PMID:35328049|PMID:35672425|PMID:35754085|PMID:8832721|PMID:9831343
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:630	genetic disease		ISO	RGD:1319617	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11719191|PMID:15024691|PMID:15981244|PMID:16199547|PMID:16252235|PMID:20045498|PMID:21407258|PMID:23077402|PMID:23744590|PMID:25323851|PMID:25525159|PMID:25711638|PMID:25741868|PMID:26244290|PMID:26348019|PMID:28251098|PMID:28492532|PMID:29181528|PMID:29565416|PMID:30097784|PMID:30452590|PMID:30894705|PMID:31169861|PMID:31237656|PMID:31589614|PMID:31827910|PMID:31987760|PMID:32483926|PMID:32581362|PMID:33781268|PMID:34860240|PMID:35328049|PMID:35672425|PMID:35754005|PMID:35876299|PMID:36018796|PMID:38881609
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319617	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16199547|PMID:16252235|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:18026682|PMID:18058054|PMID:18349089|PMID:18588671|PMID:21116122|PMID:22025579|PMID:22511589|PMID:23744590|PMID:24706814|PMID:25323851|PMID:25384351|PMID:25525159|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26467025|PMID:27208204|PMID:28222408|PMID:28492532|PMID:29181528|PMID:29565416|PMID:30283887|PMID:30452590|PMID:30499050|PMID:30894705|PMID:31077665|PMID:31106028|PMID:31237656|PMID:31589614|PMID:31827910|PMID:3196484|PMID:31987760|PMID:32581362|PMID:33118644|PMID:33302760|PMID:33939331|PMID:34526760|PMID:34673960|PMID:35252483|PMID:35277167|PMID:35328049|PMID:35417292|PMID:35672425|PMID:38219857
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:898	autosomal dominant polycystic kidney disease	susceptibility	IAGP		D	RGD:11553546|PMID:25920554	20191204	RGD		DNA:missense mutation:cds:multiple mutations (human)	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9000039	Spinal Cord Injuries	treatment	IEP		D	RGD:12798566|PMID:24090150	20170327	RGD			
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9001581	Constipation		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9001722	Dysarthria		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9001733	Tinnitus		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9002278	Metabolic Bone Diseases	treatment	ISO	RGD:1319618	D	RGD:11343819|PMID:26554834	20170327	RGD		DNA:missense mutations:cds:p.A214V,p.G171V(mouse)	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9002589	Bone Fractures		ISO	RGD:1319617	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22504420
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9002589	Bone Fractures		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone fracture | ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9003049	Femur Head Necrosis	treatment	IEP		D	RGD:12793062|PMID:24510055	20170320	RGD			
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9003539	Hyperacusis		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9004914	Postmenopausal Osteoporosis		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Postmenopausal osteoporosis	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9005077	Joint Instability		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9005882	Spine Osteoarthritis	susceptibility	ISO	RGD:1319617	D	RGD:12792278|PMID:17202888	20170315	RGD		DNA:polymorphism:cds:p.Q89R(human)	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9007736	Vertigo		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1319617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:15024691|PMID:15824851|PMID:16956801|PMID:18721193|PMID:20045498|PMID:25741868|PMID:25829125|PMID:26467025|PMID:28492532
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:971	tendinitis		IEP		D	RGD:12793064|PMID:23776285	20170320	RGD		protein:increased expression:patellar tendon:	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:1319617	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18263894
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:1319617	D	RGD:1599835|PMID:15346351	20070216	RGD		DNA:mutations: :p.R570Q, p.R752G, p.E1367K (human)	
1309329	Lrp5	LDL receptor related protein 5	gene	DOID:9834	hyperopia		ISO	RGD:1319617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1309330	Scarf1	scavenger receptor class F, member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309330	Scarf1	scavenger receptor class F, member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309330	Scarf1	scavenger receptor class F, member 1	gene	DOID:1115	sarcoma		ISO	RGD:1319619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309330	Scarf1	scavenger receptor class F, member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309330	Scarf1	scavenger receptor class F, member 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309330	Scarf1	scavenger receptor class F, member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309330	Scarf1	scavenger receptor class F, member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309330	Scarf1	scavenger receptor class F, member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309332	Mmp21	matrix metallopeptidase 21	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1319622	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437028
1309332	Mmp21	matrix metallopeptidase 21	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1319622	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Heterotaxy syndrome	PMID:24033266|PMID:25741868|PMID:26437028
1309332	Mmp21	matrix metallopeptidase 21	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1319623	D	RGD:13592920	20230718	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1309332	Mmp21	matrix metallopeptidase 21	gene	DOID:0051021	visceral heterotaxy 7		ISO	RGD:1319622	D	RGD:7240710	20190315	OMIM			
1309332	Mmp21	matrix metallopeptidase 21	gene	DOID:0051021	visceral heterotaxy 7		ISO	RGD:1319622	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 7, AUTOSOMAL | ClinVar Annotator: match by term: Heterotaxy, visceral, 7, autosomal | ClinVar Annotator: match by term: MMP21-related condition	PMID:24033266|PMID:25741868|PMID:26437028|PMID:28492532
1309332	Mmp21	matrix metallopeptidase 21	gene	DOID:1682	congenital heart disease		ISO	RGD:1319622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
1309332	Mmp21	matrix metallopeptidase 21	gene	DOID:37	skin disease		ISO	RGD:1319622	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16984259
1309332	Mmp21	matrix metallopeptidase 21	gene	DOID:4362	cervical cancer		ISO	RGD:1319622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309332	Mmp21	matrix metallopeptidase 21	gene	DOID:4415	fibrous histiocytoma		ISO	RGD:1319622	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16984259
1309332	Mmp21	matrix metallopeptidase 21	gene	DOID:5041	esophageal cancer		ISO	RGD:1319622	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309332	Mmp21	matrix metallopeptidase 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309332	Mmp21	matrix metallopeptidase 21	gene	DOID:630	genetic disease		ISO	RGD:1319622	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309332	Mmp21	matrix metallopeptidase 21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309333	Mael	maelstrom spermatogenic transposon silencer	gene	DOID:10534	stomach cancer		ISO	RGD:1605917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309333	Mael	maelstrom spermatogenic transposon silencer	gene	DOID:12336	male infertility		ISO	RGD:1605917	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
1309333	Mael	maelstrom spermatogenic transposon silencer	gene	DOID:6039	uveal melanoma		ISO	RGD:1605917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309334	Zdhhc18	zDHHC palmitoyltransferase 18	gene	DOID:10534	stomach cancer		ISO	RGD:1319625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309334	Zdhhc18	zDHHC palmitoyltransferase 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309334	Zdhhc18	zDHHC palmitoyltransferase 18	gene	DOID:1909	melanoma		ISO	RGD:1319625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309334	Zdhhc18	zDHHC palmitoyltransferase 18	gene	DOID:3070	high grade glioma		ISO	RGD:1319625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309334	Zdhhc18	zDHHC palmitoyltransferase 18	gene	DOID:3275	thymoma		ISO	RGD:1319625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309334	Zdhhc18	zDHHC palmitoyltransferase 18	gene	DOID:4362	cervical cancer		ISO	RGD:1319625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309334	Zdhhc18	zDHHC palmitoyltransferase 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309334	Zdhhc18	zDHHC palmitoyltransferase 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309335	Ate1	arginyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309335	Ate1	arginyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1319626	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309335	Ate1	arginyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309335	Ate1	arginyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309335	Ate1	arginyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319626	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309335	Ate1	arginyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309335	Ate1	arginyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309335	Ate1	arginyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309335	Ate1	arginyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309335	Ate1	arginyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:0060058	lymphoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:10534	stomach cancer		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:1324	lung cancer		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:3070	high grade glioma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:3275	thymoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319628	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:6000	congestive heart failure		ISO	RGD:1319628	D	RGD:11554173	20190115	CTD		CTD Direct Evidence: marker/mechanism	PMID:28347583
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:6039	uveal melanoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:9001371	Eosinophilia		ISO	RGD:1319628	D	RGD:11075088|PMID:23114151	20160505	RGD		DNA:gene fusion	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:9001997	Pdgfra-Associated Chronic Eosinophilic Leukemia		ISO	RGD:1319628	D	RGD:11075089|PMID:22806436	20160505	RGD		DNA:gene fusion	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309336	Fip1l1	factor interacting with PAPOLA and CPSF1	gene	DOID:999	hypereosinophilic syndrome		ISO	RGD:1319628	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778211|PMID:28347583|PMID:31036733
1309337	Klk13	kallikrein related-peptidase 13	gene	DOID:10283	prostate cancer		ISO	RGD:1319630	D	RGD:2314865|PMID:12970725	20091201	RGD		protein:decreased expression:prostate	
1309337	Klk13	kallikrein related-peptidase 13	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1319630	D	RGD:2314862|PMID:19707197	20091201	RGD		mRNA:increased expression:ovary	
1309337	Klk13	kallikrein related-peptidase 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1319630	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309337	Klk13	kallikrein related-peptidase 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309339	Marchf8	membrane associated ring-CH-type finger 8	gene	DOID:3275	thymoma		ISO	RGD:1353860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309339	Marchf8	membrane associated ring-CH-type finger 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1353860	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309339	Marchf8	membrane associated ring-CH-type finger 8	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1353860	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17068819
1309339	Marchf8	membrane associated ring-CH-type finger 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353860	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309340	Mapk11	mitogen-activated protein kinase 11	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319634	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:10620750
1309340	Mapk11	mitogen-activated protein kinase 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309340	Mapk11	mitogen-activated protein kinase 11	gene	DOID:10534	stomach cancer		ISO	RGD:1319634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309340	Mapk11	mitogen-activated protein kinase 11	gene	DOID:1324	lung cancer		ISO	RGD:1319634	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309340	Mapk11	mitogen-activated protein kinase 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309340	Mapk11	mitogen-activated protein kinase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309340	Mapk11	mitogen-activated protein kinase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309340	Mapk11	mitogen-activated protein kinase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309341	Tmem192	transmembrane protein 192	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309341	Tmem192	transmembrane protein 192	gene	DOID:1115	sarcoma		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309341	Tmem192	transmembrane protein 192	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309341	Tmem192	transmembrane protein 192	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309341	Tmem192	transmembrane protein 192	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309341	Tmem192	transmembrane protein 192	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309341	Tmem192	transmembrane protein 192	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309341	Tmem192	transmembrane protein 192	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309343	Sema3c	semaphorin 3C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1309343	Sema3c	semaphorin 3C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309343	Sema3c	semaphorin 3C	gene	DOID:1115	sarcoma		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309343	Sema3c	semaphorin 3C	gene	DOID:1324	lung cancer		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1309343	Sema3c	semaphorin 3C	gene	DOID:1909	melanoma		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309343	Sema3c	semaphorin 3C	gene	DOID:4362	cervical cancer		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1309343	Sema3c	semaphorin 3C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
1309343	Sema3c	semaphorin 3C	gene	DOID:5041	esophageal cancer		ISO	RGD:1319638	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1309343	Sema3c	semaphorin 3C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1309343	Sema3c	semaphorin 3C	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319638	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309343	Sema3c	semaphorin 3C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1309343	Sema3c	semaphorin 3C	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319638	D	RGD:1580084|PMID:15077297	19990101	RGD		protein:increased expression:knee, synovium (human)	
1309343	Sema3c	semaphorin 3C	gene	DOID:9002189	High Myopia		ISO	RGD:1319638	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1309343	Sema3c	semaphorin 3C	gene	DOID:9003752	Persistent Truncus Arteriosus		ISO	RGD:1319638	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15548583
1309343	Sema3c	semaphorin 3C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309343	Sema3c	semaphorin 3C	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1309345	Bcl6	BCL6, transcription repressor	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1319642	D	RGD:1600111|PMID:11821949	20070228	RGD		diffuse large B-cell lymphoma	
1309345	Bcl6	BCL6, transcription repressor	gene	DOID:0050745	diffuse large B-cell lymphoma	disease_progression	ISO	RGD:1319642	D	RGD:11530023|PMID:15701085	20160819	RGD			
1309345	Bcl6	BCL6, transcription repressor	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1319642	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25543051
1309345	Bcl6	BCL6, transcription repressor	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1319642	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15375218
1309345	Bcl6	BCL6, transcription repressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309345	Bcl6	BCL6, transcription repressor	gene	DOID:707	B-cell lymphoma		ISO	RGD:1319642	D	RGD:1600111|PMID:11821949	20070228	RGD		diffuse large B-cell lymphoma	
1309345	Bcl6	BCL6, transcription repressor	gene	DOID:8577	ulcerative colitis		ISO	RGD:1319642	D	RGD:11554173	20240903	CTD		CTD Direct Evidence: therapeutic	PMID:38164749
1309345	Bcl6	BCL6, transcription repressor	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1319642	D	RGD:11554173	20240903	CTD		CTD Direct Evidence: therapeutic	PMID:38164749
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:1612	breast cancer		ISO	RGD:1319644	D	RGD:1599411|PMID:12068296	20070201	RGD			
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:1612	breast cancer		ISO	RGD:1319644	D	RGD:7240710	20180711	OMIM			
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:1612	breast cancer		ISO	RGD:1319644	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, SOMATIC	
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:1909	melanoma		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:3275	thymoma		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319644	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:5419	schizophrenia		ISO	RGD:1319644	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319644	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
1309346	Rb1cc1	RB1-inducible coiled-coil 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:11664	nephrosclerosis		ISO	RGD:1319649	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:28318631
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:5199	ureteral obstruction		ISO	RGD:1319649	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:28318631
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309349	Hipk2	homeodomain interacting protein kinase 2	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1319649	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1309353	Mrc1	mannose receptor, C type 1	gene	DOID:0080600	COVID-19		ISO	RGD:1319655	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309353	Mrc1	mannose receptor, C type 1	gene	DOID:1024	leprosy		ISO	RGD:1319655	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SUSCEPTIBILITY TO LEPROSY AND MULTIBACILLARY LEPROSY	
1309353	Mrc1	mannose receptor, C type 1	gene	DOID:1909	melanoma		ISO	RGD:1319655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309353	Mrc1	mannose receptor, C type 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:1319655	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
1309353	Mrc1	mannose receptor, C type 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1319655	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
1309353	Mrc1	mannose receptor, C type 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:1319655	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36127783
1309353	Mrc1	mannose receptor, C type 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	IEP		D	RGD:40924652|PMID:24968269	20210118	RGD			
1309353	Mrc1	mannose receptor, C type 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1319655	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
1309353	Mrc1	mannose receptor, C type 1	gene	DOID:9970	obesity		ISO	RGD:1319655	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
1309354	Ctsw	cathepsin W	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309354	Ctsw	cathepsin W	gene	DOID:10534	stomach cancer		ISO	RGD:1319657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309354	Ctsw	cathepsin W	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309354	Ctsw	cathepsin W	gene	DOID:6039	uveal melanoma		ISO	RGD:1319657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309354	Ctsw	cathepsin W	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309354	Ctsw	cathepsin W	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309355	Ncln	nicalin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309355	Ncln	nicalin	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1343218	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
1309355	Ncln	nicalin	gene	DOID:10534	stomach cancer		ISO	RGD:1343218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309355	Ncln	nicalin	gene	DOID:1115	sarcoma		ISO	RGD:1343218	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309355	Ncln	nicalin	gene	DOID:1324	lung cancer		ISO	RGD:1343218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309355	Ncln	nicalin	gene	DOID:1909	melanoma		ISO	RGD:1343218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309355	Ncln	nicalin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309355	Ncln	nicalin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309355	Ncln	nicalin	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1343218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309355	Ncln	nicalin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309355	Ncln	nicalin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309355	Ncln	nicalin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309356	Rxylt1	ribitol xylosyltransferase 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1319660	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1309356	Rxylt1	ribitol xylosyltransferase 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED	PMID:25741868|PMID:28492532
1309356	Rxylt1	ribitol xylosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309356	Rxylt1	ribitol xylosyltransferase 1	gene	DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10		ISO	RGD:1319660	D	RGD:7240710	20140911	OMIM			
1309356	Rxylt1	ribitol xylosyltransferase 1	gene	DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | ClinVar Annotator: match by term: RXYLT1-related condition	PMID:16199547|PMID:17576681|PMID:23217329|PMID:23519211|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27130732|PMID:27733679|PMID:28492532|PMID:30017359|PMID:30609409|PMID:31742715|PMID:34490615|PMID:36344539|PMID:9536098
1309356	Rxylt1	ribitol xylosyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309356	Rxylt1	ribitol xylosyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309356	Rxylt1	ribitol xylosyltransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309356	Rxylt1	ribitol xylosyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309356	Rxylt1	ribitol xylosyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309356	Rxylt1	ribitol xylosyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309356	Rxylt1	ribitol xylosyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309357	Lrfn5	leucine rich repeat and fibronectin type III domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309357	Lrfn5	leucine rich repeat and fibronectin type III domain containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309357	Lrfn5	leucine rich repeat and fibronectin type III domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1319662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309357	Lrfn5	leucine rich repeat and fibronectin type III domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1319662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309357	Lrfn5	leucine rich repeat and fibronectin type III domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1319662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309357	Lrfn5	leucine rich repeat and fibronectin type III domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309357	Lrfn5	leucine rich repeat and fibronectin type III domain containing 5	gene	DOID:630	genetic disease		ISO	RGD:1319662	D	RGD:8554872	20180109	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:10534	stomach cancer		ISO	RGD:1319664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:1115	sarcoma		ISO	RGD:1319664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:1324	lung cancer		ISO	RGD:1319664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:1909	melanoma		ISO	RGD:1319664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:3275	thymoma		ISO	RGD:1319664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:4362	cervical cancer		ISO	RGD:1319664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:5041	esophageal cancer		ISO	RGD:1319664	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309358	Sec24b	SEC24 homolog B, COPII component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309359	Unc119b	unc-119 lipid binding chaperone B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309359	Unc119b	unc-119 lipid binding chaperone B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309360	Rgs7bp	regulator of G-protein signaling 7 binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1604905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309360	Rgs7bp	regulator of G-protein signaling 7 binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309360	Rgs7bp	regulator of G-protein signaling 7 binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309360	Rgs7bp	regulator of G-protein signaling 7 binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309361	Col8a1	collagen type VIII alpha 1 chain	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319668	D	RGD:617154591|PMID:27936202	20250708	RGD		mRNA, protein:increased expression:heart left ventricle	
1309361	Col8a1	collagen type VIII alpha 1 chain	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:1319668	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19035365
1309361	Col8a1	collagen type VIII alpha 1 chain	gene	DOID:9775	diastolic heart failure		ISO	RGD:1319668	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1309363	Cdca7	cell division cycle associated 7	gene	DOID:0090010	immunodeficiency-centromeric instability-facial anomalies syndrome 3		ISO	RGD:1319671	D	RGD:7240710	20190315	OMIM			
1309363	Cdca7	cell division cycle associated 7	gene	DOID:0090010	immunodeficiency-centromeric instability-facial anomalies syndrome 3		ISO	RGD:1319671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDCA7-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 3	PMID:25741868|PMID:26216346|PMID:28492532
1309363	Cdca7	cell division cycle associated 7	gene	DOID:10534	stomach cancer		ISO	RGD:1319671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309363	Cdca7	cell division cycle associated 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309363	Cdca7	cell division cycle associated 7	gene	DOID:1324	lung cancer		ISO	RGD:1319671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309363	Cdca7	cell division cycle associated 7	gene	DOID:1909	melanoma		ISO	RGD:1319671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309363	Cdca7	cell division cycle associated 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309363	Cdca7	cell division cycle associated 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309363	Cdca7	cell division cycle associated 7	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319671	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1309363	Cdca7	cell division cycle associated 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309364	F11	coagulation factor XI	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:15026311|PMID:1547342|PMID:16835901|PMID:18446632|PMID:19652879|PMID:2052060|PMID:23929304|PMID:25741868|PMID:26558335|PMID:2813350|PMID:28492532|PMID:29138690|PMID:29178608|PMID:31064749|PMID:32118380|PMID:32166871|PMID:34355501
1309364	F11	coagulation factor XI	gene	DOID:0050847	sleep apnea		ISO	RGD:1319673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:15026311|PMID:1547342|PMID:16835901|PMID:18446632|PMID:19652879|PMID:2052060|PMID:23929304|PMID:25741868|PMID:26558335|PMID:2813350|PMID:28492532|PMID:29138690|PMID:29178608|PMID:31064749|PMID:32118380|PMID:32166871|PMID:34355501
1309364	F11	coagulation factor XI	gene	DOID:0060903	thrombosis		ISO	RGD:1319673	D	RGD:11041774|PMID:22633531	20160329	RGD		DNA:SNPs:intron: rs2289252,rs2036914(human)	
1309364	F11	coagulation factor XI	gene	DOID:0060903	thrombosis	susceptibility	ISO	RGD:1319673	D	RGD:11041778|PMID:19583818	20160329	RGD		DNA:SNPs:intron: rs2289252,rs2036914(human)	
1309364	F11	coagulation factor XI	gene	DOID:0080833	laryngomalacia		ISO	RGD:1319673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:15026311|PMID:1547342|PMID:16835901|PMID:18446632|PMID:19652879|PMID:2052060|PMID:23929304|PMID:25741868|PMID:26558335|PMID:2813350|PMID:28492532|PMID:29138690|PMID:29178608|PMID:31064749|PMID:32118380|PMID:32166871|PMID:34355501
1309364	F11	coagulation factor XI	gene	DOID:10763	hypertension		ISO	RGD:1319673	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:6383834
1309364	F11	coagulation factor XI	gene	DOID:1324	lung cancer		ISO	RGD:1319673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309364	F11	coagulation factor XI	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1319673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:34355501
1309364	F11	coagulation factor XI	gene	DOID:2229	factor XI deficiency		ISO	RGD:1319673	D	RGD:11041741|PMID:11127865	20160328	RGD		DNA:missense, nonsense, duplication, deletion:cds:	
1309364	F11	coagulation factor XI	gene	DOID:2229	factor XI deficiency		ISO	RGD:1319673	D	RGD:11041742|PMID:10706758	20160328	RGD		DNA:nonsense mutation:exon:G263X(human)	
1309364	F11	coagulation factor XI	gene	DOID:2229	factor XI deficiency		ISO	RGD:1319673	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309364	F11	coagulation factor XI	gene	DOID:2229	factor XI deficiency		ISO	RGD:1319673	D	RGD:1598923|PMID:2813350	20070102	RGD			
1309364	F11	coagulation factor XI	gene	DOID:2229	factor XI deficiency		ISO	RGD:1319673	D	RGD:7240710	20130221	OMIM			
1309364	F11	coagulation factor XI	gene	DOID:2229	factor XI deficiency		ISO	RGD:1319673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital factor XI deficiency | ClinVar Annotator: match by term: F11-related condition | ClinVar Annotator: match by term: FACTOR XI DEFICIENCY | ClinVar Annotator: match by term: Factor XI deficiency | ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar Annotator: match by term: Plasma factor XI deficiency	PMID:10593931|PMID:10606881|PMID:10630991|PMID:10706758|PMID:11127865|PMID:11418471|PMID:11895778|PMID:12716376|PMID:14508802|PMID:14717969|PMID:15026311|PMID:15140127|PMID:15140147|PMID:15182578|PMID:1547342|PMID:15531455|PMID:15613027|PMID:15634276|PMID:15728123|PMID:15842381|PMID:15870541|PMID:15946525|PMID:15968392|PMID:16079124|PMID:16086308|PMID:16199547|PMID:16519703|PMID:16607084|PMID:16787881|PMID:16835901|PMID:17549289|PMID:17576681|PMID:18005151|PMID:18024374|PMID:18327400|PMID:18388506|PMID:18446632|PMID:18515884|PMID:18839438|PMID:19367158|PMID:19630565|PMID:19652879|PMID:20015217|PMID:20301578|PMID:20398070|PMID:2052060|PMID:20523169|PMID:21192253|PMID:21649796|PMID:21668437|PMID:21718436|PMID:21824284|PMID:21999818|PMID:22159456|PMID:22197449|PMID:23305485|PMID:23315997|PMID:23332144|PMID:23571684|PMID:23929304|PMID:24033266|PMID:24112640|PMID:24982842|PMID:25074526|PMID:25158988|PMID:25681615|PMID:25741868|PMID:25817556|PMID:26558335|PMID:26879396|PMID:27067486|PMID:27710856|PMID:27723456|PMID:2813350|PMID:28445521|PMID:28492532|PMID:28615222|PMID:28748566|PMID:28960694|PMID:29138690|PMID:29178608|PMID:29367083|PMID:30261521|PMID:30720488|PMID:30950027|PMID:31028937|PMID:31064749|PMID:31644447|PMID:31790498|PMID:31982874|PMID:32118380|PMID:32166871|PMID:32220196|PMID:32333264|PMID:32335422|PMID:32464451|PMID:32581362|PMID:32596782|PMID:33298665|PMID:33477601|PMID:33751533|PMID:34355501|PMID:34597376|PMID:34776502|PMID:34799507|PMID:35059554|PMID:35850092|PMID:36050548|PMID:36195107|PMID:36543159|PMID:36696193|PMID:37252892|PMID:37336435|PMID:37647632|PMID:38003459|PMID:38387429|PMID:38835089|PMID:39076726|PMID:40936146|PMID:41009375|PMID:41124306|PMID:7669672|PMID:7888672|PMID:9401068|PMID:9536098|PMID:9787168
1309364	F11	coagulation factor XI	gene	DOID:2229	factor XI deficiency		ISS	RGD:1319674	D	RGD:13592920	20230718	MouseDO		OMIM:612416	
1309364	F11	coagulation factor XI	gene	DOID:3490	Noonan syndrome		ISO	RGD:1319673	D	RGD:11041743|PMID:3354599	20160328	RGD		protein:decreased expression:plasma:	
1309364	F11	coagulation factor XI	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1319674	D	RGD:11041786|PMID:16533887	20160329	RGD			
1309364	F11	coagulation factor XI	gene	DOID:543	dystonia		ISO	RGD:1319673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:15026311|PMID:1547342|PMID:16835901|PMID:18446632|PMID:19652879|PMID:2052060|PMID:23929304|PMID:25741868|PMID:26558335|PMID:2813350|PMID:28492532|PMID:29138690|PMID:29178608|PMID:31064749|PMID:32118380|PMID:32166871|PMID:34355501
1309364	F11	coagulation factor XI	gene	DOID:630	genetic disease		ISO	RGD:1319673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309364	F11	coagulation factor XI	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1319673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:15026311|PMID:1547342|PMID:16835901|PMID:18446632|PMID:19652879|PMID:2052060|PMID:23929304|PMID:25741868|PMID:26558335|PMID:2813350|PMID:28492532|PMID:29138690|PMID:29178608|PMID:31064749|PMID:32118380|PMID:32166871|PMID:34355501
1309364	F11	coagulation factor XI	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1319673	D	RGD:11041767|PMID:25517908	20160329	RGD		protein:increased activity:blood:	
1309364	F11	coagulation factor XI	gene	DOID:9003871	Venous Thrombosis	susceptibility	ISO	RGD:1319673	D	RGD:11041768|PMID:10706899	20160329	RGD		protein:increased activity:blood:	
1309364	F11	coagulation factor XI	gene	DOID:9004484	Sepsis		IEP		D	RGD:1598921|PMID:12000738	20160121	RGD			
1309364	F11	coagulation factor XI	gene	DOID:9004992	Apnea		ISO	RGD:1319673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:15026311|PMID:1547342|PMID:16835901|PMID:18446632|PMID:19652879|PMID:2052060|PMID:23929304|PMID:25741868|PMID:26558335|PMID:2813350|PMID:28492532|PMID:29138690|PMID:29178608|PMID:31064749|PMID:32118380|PMID:32166871|PMID:34355501
1309364	F11	coagulation factor XI	gene	DOID:9006617	Fatigue		ISO	RGD:1319673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:15026311|PMID:1547342|PMID:16835901|PMID:18446632|PMID:19652879|PMID:2052060|PMID:23929304|PMID:25741868|PMID:26558335|PMID:2813350|PMID:28492532|PMID:29138690|PMID:29178608|PMID:31064749|PMID:32118380|PMID:32166871|PMID:34355501
1309364	F11	coagulation factor XI	gene	DOID:9007001	Bradycardia		ISO	RGD:1319673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:15026311|PMID:1547342|PMID:16835901|PMID:18446632|PMID:19652879|PMID:2052060|PMID:23929304|PMID:25741868|PMID:26558335|PMID:2813350|PMID:28492532|PMID:29138690|PMID:29178608|PMID:31064749|PMID:32118380|PMID:32166871|PMID:34355501
1309364	F11	coagulation factor XI	gene	DOID:9008217	Hemorrhage		ISO	RGD:1319673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bleeding | ClinVar Annotator: match by term: bleeding	PMID:23305485|PMID:25741868|PMID:37647632
1309364	F11	coagulation factor XI	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1319673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Respiratory tract infection	PMID:15026311|PMID:1547342|PMID:16835901|PMID:18446632|PMID:19652879|PMID:2052060|PMID:23929304|PMID:25741868|PMID:26558335|PMID:2813350|PMID:28492532|PMID:29138690|PMID:29178608|PMID:31064749|PMID:32118380|PMID:32166871|PMID:34355501
1309364	F11	coagulation factor XI	gene	DOID:9220	central sleep apnea		ISO	RGD:1319673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Central sleep apnea	PMID:15026311|PMID:1547342|PMID:16835901|PMID:18446632|PMID:19652879|PMID:2052060|PMID:23929304|PMID:25741868|PMID:26558335|PMID:2813350|PMID:28492532|PMID:29138690|PMID:29178608|PMID:31064749|PMID:32118380|PMID:32166871|PMID:34355501
1309366	Pmm2	phosphomannomutase 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:0050570	congenital disorder of glycosylation type I		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation type I	PMID:10386614|PMID:10527672|PMID:10571956|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11058896|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:12626389|PMID:12705494|PMID:15844218|PMID:16376131|PMID:16540464|PMID:16825284|PMID:17166182|PMID:17451957|PMID:18948042|PMID:19357119|PMID:19396570|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22223895|PMID:22814378|PMID:22975760|PMID:23430838|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28454995|PMID:28492532|PMID:28940310|PMID:29470411|PMID:30061496|PMID:30740725|PMID:30873657|PMID:31474318|PMID:32581362|PMID:32635232|PMID:32860008|PMID:34420056|PMID:38599261|PMID:9140401|PMID:9497260|PMID:9710598|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:0050570	congenital disorder of glycosylation type I		ISS	RGD:1557829	D	RGD:13592920	20180518	MouseDO		OMIM:212065 | OMIM:300884 | OMIM:300934 | OMIM:601110 | OMIM:602579 | OMIM:603147 | OMIM:607143 | OMIM:607906 | OMIM:608093 | OMIM:608104 | OMIM:608540 | OMIM:608776 | OMIM:608799 | OMIM:609180 | OMIM:610768 | OMIM:612015 | OMIM:612379 | OMIM:612937 | OMIM:613661 | OMIM:614507 | OMIM:614921 | OMIM:615042 | OMIM:615596 | OMIM:615597 | OMIM:616457	
1309366	Pmm2	phosphomannomutase 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:10386614|PMID:10527672|PMID:10571956|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16376131|PMID:16540464|PMID:16825284|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:0080552	congenital disorder of glycosylation Ia		ISO	RGD:1319677	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21539312
1309366	Pmm2	phosphomannomutase 2	gene	DOID:0080552	congenital disorder of glycosylation Ia		ISO	RGD:1319677	D	RGD:7240710	20130221	OMIM			
1309366	Pmm2	phosphomannomutase 2	gene	DOID:0080552	congenital disorder of glycosylation Ia		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1a | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia | ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation | ClinVar Annotator: match by term: PMM2-related condition	PMID:10066032|PMID:10386614|PMID:10527672|PMID:10571009|PMID:10571956|PMID:10602363|PMID:10700701|PMID:10801058|PMID:10854097|PMID:10896303|PMID:10922383|PMID:11058895|PMID:11058896|PMID:11134235|PMID:11142762|PMID:11148191|PMID:11156536|PMID:11350185|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11589167|PMID:11715002|PMID:11875054|PMID:11891694|PMID:11916319|PMID:12244009|PMID:12297897|PMID:12357336|PMID:12529711|PMID:12626389|PMID:12705494|PMID:12905014|PMID:13129599|PMID:15272470|PMID:15277997|PMID:15520415|PMID:15645285|PMID:15714316|PMID:15844218|PMID:16009061|PMID:16085795|PMID:16199547|PMID:16376131|PMID:16435227|PMID:16540464|PMID:16825284|PMID:16941129|PMID:17158594|PMID:17166182|PMID:17307006|PMID:17308246|PMID:17451957|PMID:17576681|PMID:18093857|PMID:18203160|PMID:18485644|PMID:18571450|PMID:18629883|PMID:18948042|PMID:19101518|PMID:19165618|PMID:19168813|PMID:19235233|PMID:19357119|PMID:19396570|PMID:19862844|PMID:20301289|PMID:20638314|PMID:21228398|PMID:21541725|PMID:21937992|PMID:21949237|PMID:22012410|PMID:22223895|PMID:22649348|PMID:22801829|PMID:22814378|PMID:22975760|PMID:23045520|PMID:23430838|PMID:23430905|PMID:23430927|PMID:23806237|PMID:23988505|PMID:24033266|PMID:24037084|PMID:24139637|PMID:24424129|PMID:24493206|PMID:24498599|PMID:24739649|PMID:25167861|PMID:25192236|PMID:25333069|PMID:25355454|PMID:25497157|PMID:25525159|PMID:25640679|PMID:25681648|PMID:25741868|PMID:26014514|PMID:26206375|PMID:26425584|PMID:26488408|PMID:26502900|PMID:26629787|PMID:26633542|PMID:26887550|PMID:27053713|PMID:27214821|PMID:28122681|PMID:28139241|PMID:28373276|PMID:28425223|PMID:28454995|PMID:28492532|PMID:28807751|PMID:28820871|PMID:28915903|PMID:28940310|PMID:28954837|PMID:29361989|PMID:29470411|PMID:29701302|PMID:30061496|PMID:30304743|PMID:30397276|PMID:30406445|PMID:30577886|PMID:30687093|PMID:30740725|PMID:30873657|PMID:30991241|PMID:31115488|PMID:31117816|PMID:31391289|PMID:31474318|PMID:31785789|PMID:31870226|PMID:31902100|PMID:31980526|PMID:31981409|PMID:32005694|PMID:32457805|PMID:32581362|PMID:32635232|PMID:32860008|PMID:32874916|PMID:33057194|PMID:33101984|PMID:33133147|PMID:33163565|PMID:33176815|PMID:33209585|PMID:33340551|PMID:33407696|PMID:33413482|PMID:33532864|PMID:33580824|PMID:33583911|PMID:33643843|PMID:33663989|PMID:33726816|PMID:33743737|PMID:33858316|PMID:33921431|PMID:33960646|PMID:34277356|PMID:34420056|PMID:34440401|PMID:34652821|PMID:34682117|PMID:34732400|PMID:34828263|PMID:34859900|PMID:35279850|PMID:35281664|PMID:35308014|PMID:35780510|PMID:35789514|PMID:36099812|PMID:36719165|PMID:37042760|PMID:37224763|PMID:37245379|PMID:37542768|PMID:37597336|PMID:37876147|PMID:38587076|PMID:38599261|PMID:38917675|PMID:38959600|PMID:39105373|PMID:39216211|PMID:39633515|PMID:39923392|PMID:40121796|PMID:40307862|PMID:40555085|PMID:40737785|PMID:9140401|PMID:9497260|PMID:9536098|PMID:9710598|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1319677	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1309366	Pmm2	phosphomannomutase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:10801058|PMID:11156536|PMID:11589167|PMID:11891694|PMID:15714316|PMID:15844218|PMID:20301289|PMID:20638314|PMID:21541725|PMID:23430838|PMID:23988505|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:28492532|PMID:9140401
1309366	Pmm2	phosphomannomutase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:15844218|PMID:20638314|PMID:25497157|PMID:25741868|PMID:28492532
1309366	Pmm2	phosphomannomutase 2	gene	DOID:10907	microcephaly		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309366	Pmm2	phosphomannomutase 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:11156536|PMID:11409861|PMID:11715002|PMID:15844218|PMID:17166182|PMID:21541725|PMID:22012410|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:28492532|PMID:28807751|PMID:35780510|PMID:39923392|PMID:9497260
1309366	Pmm2	phosphomannomutase 2	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:11156536|PMID:11409861|PMID:11715002|PMID:15844218|PMID:17166182|PMID:21541725|PMID:22012410|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:28492532|PMID:28807751|PMID:35780510|PMID:39923392|PMID:9497260
1309366	Pmm2	phosphomannomutase 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:1826	epilepsy		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:20638314|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:2355	anemia		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28492532|PMID:33583911
1309366	Pmm2	phosphomannomutase 2	gene	DOID:3310	atopic dermatitis		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28492532|PMID:33583911
1309366	Pmm2	phosphomannomutase 2	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:11156536|PMID:11409861|PMID:11715002|PMID:15844218|PMID:17166182|PMID:21541725|PMID:22012410|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:28492532|PMID:28807751|PMID:35780510|PMID:39923392|PMID:9497260
1309366	Pmm2	phosphomannomutase 2	gene	DOID:4189	mutism		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309366	Pmm2	phosphomannomutase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319677	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309366	Pmm2	phosphomannomutase 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cirrhosis of liver	PMID:10571956|PMID:11134235|PMID:15844218|PMID:16376131|PMID:16825284|PMID:19357119|PMID:20301289|PMID:25741868|PMID:28492532|PMID:31474318
1309366	Pmm2	phosphomannomutase 2	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1319677	D	RGD:1599132|PMID:11058896	20070117	RGD			
1309366	Pmm2	phosphomannomutase 2	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1319677	D	RGD:1599134|PMID:10066032	20070117	RGD			
1309366	Pmm2	phosphomannomutase 2	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital disorders of glycosylation	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:540	strabismus		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:543	dystonia		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:34440401|PMID:9536098
1309366	Pmm2	phosphomannomutase 2	gene	DOID:630	genetic disease		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11156536|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11715002|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:19862844|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22012410|PMID:22975760|PMID:23430905|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28122681|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28807751|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:35780510|PMID:39923392|PMID:40886090|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:6364	migraine		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:8488	polyhydramnios		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:11156536|PMID:11409861|PMID:11715002|PMID:15844218|PMID:17166182|PMID:21541725|PMID:22012410|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:28492532|PMID:28807751|PMID:35780510|PMID:39923392|PMID:9497260
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9000343	Vision Disorders		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9000495	Tremor		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:10801058|PMID:11058895|PMID:11715002|PMID:18203160|PMID:20301289|PMID:21949237|PMID:25741868|PMID:28492532|PMID:32635232|PMID:33413482
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9001722	Dysarthria		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:1319677	D	RGD:8554872	20201015	ClinVar		ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	PMID:25741868
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9004866	Ataxia		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319677	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11156536|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11715002|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17186415|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22012410|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28566178|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:33163565|PMID:33583911|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:33583911|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9007874	Liver Failure		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:10571956|PMID:11134235|PMID:15844218|PMID:16376131|PMID:16825284|PMID:19357119|PMID:20301289|PMID:25741868|PMID:28492532|PMID:31474318
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: developmental delay	PMID:10527672|PMID:10571956|PMID:11134235|PMID:11156536|PMID:12607543|PMID:12705494|PMID:15645285|PMID:15844218|PMID:16376131|PMID:16825284|PMID:17166182|PMID:17920054|PMID:19357119|PMID:19396570|PMID:20301289|PMID:21541725|PMID:22012410|PMID:24739649|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26502900|PMID:28492532|PMID:31474318|PMID:32071842|PMID:33340551|PMID:33413482|PMID:33583911|PMID:35279850
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319677	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309366	Pmm2	phosphomannomutase 2	gene	DOID:93	language disorder		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9834	hyperopia		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9840	esotropia		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:33583911|PMID:9140401|PMID:9497260|PMID:9781039
1309366	Pmm2	phosphomannomutase 2	gene	DOID:9884	muscular dystrophy		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
1309367	Wdr31	WD repeat domain 31	gene	DOID:10534	stomach cancer		ISO	RGD:1319678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309367	Wdr31	WD repeat domain 31	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309367	Wdr31	WD repeat domain 31	gene	DOID:1909	melanoma		ISO	RGD:1319678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309367	Wdr31	WD repeat domain 31	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309367	Wdr31	WD repeat domain 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309367	Wdr31	WD repeat domain 31	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309367	Wdr31	WD repeat domain 31	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome	PMID:25557779|PMID:25557780|PMID:25741868|PMID:26925547|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:30586318|PMID:30996265|PMID:32581362|PMID:36549870|PMID:36803301
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:0081150	common variable immunodeficiency 7		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Immunodeficiency, common variable, 7	PMID:15851977|PMID:25741868|PMID:26795916|PMID:28492532
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:0110986	Joubert Syndrome 17		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 17	PMID:15851977|PMID:25557779|PMID:25741868
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:25741868|PMID:28492532
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:0111134	focal segmental glomerulosclerosis 9		ISO	RGD:1347869	D	RGD:7240710	20170222	OMIM			
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:0111134	focal segmental glomerulosclerosis 9		ISO	RGD:1347869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 | ClinVar Annotator: match by term: focal segmental glomerulosclerosis 9	PMID:15851977|PMID:25557779|PMID:25741868|PMID:26795916|PMID:26925547|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362|PMID:33532864|PMID:33969091|PMID:36071576|PMID:36803301
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:0111625	ventriculomegaly - cystic kidney disease		ISO	RGD:1347869	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:0111625	ventriculomegaly - cystic kidney disease		ISO	RGD:1347869	D	RGD:7240710	20171011	OMIM			
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:0111625	ventriculomegaly - cystic kidney disease		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CRB2-related condition | ClinVar Annotator: match by term: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE | ClinVar Annotator: match by term: Ventriculomegaly with cystic kidney disease | ClinVar Annotator: match by term: Ventriculomegaly-cystic kidney disease	PMID:15851977|PMID:25557779|PMID:25557780|PMID:25741868|PMID:26795916|PMID:26925547|PMID:27004616|PMID:27867342|PMID:27942854|PMID:28492532|PMID:30212996|PMID:30586318|PMID:30996265|PMID:32581362|PMID:36549870|PMID:36803301
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1551852	D	RGD:8552786|PMID:24493795	20140429	RGD			
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:10584	retinitis pigmentosa		ISS	RGD:1551852	D	RGD:13592920	20180518	MouseDO		OMIM:268000	
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:15851977|PMID:25741868|PMID:26795916|PMID:28492532
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:15851977|PMID:25741868|PMID:26795916|PMID:28492532
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1347869	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1347869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:25557779|PMID:25741868|PMID:26925547|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362|PMID:36803301
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:1324	lung cancer		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1551852	D	RGD:8552784|PMID:24339791	20140429	RGD			
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:3275	thymoma		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:630	genetic disease		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15851977|PMID:19344873|PMID:25557779|PMID:25741868|PMID:26795916|PMID:26925547|PMID:27004616|PMID:27535533|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362|PMID:36803301
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:783	end stage renal disease		ISO	RGD:1347869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:25557779|PMID:25741868|PMID:26925547|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362|PMID:36803301
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:15851977|PMID:25741868|PMID:26795916|PMID:28492532
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1309368	Crb2	crumbs cell polarity complex component 2	gene	DOID:9970	obesity		ISO	RGD:1347869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:15851977|PMID:25741868|PMID:26795916|PMID:28492532
1309369	Med30	mediator complex subunit 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309369	Med30	mediator complex subunit 30	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309369	Med30	mediator complex subunit 30	gene	DOID:3275	thymoma		ISO	RGD:1319681	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309369	Med30	mediator complex subunit 30	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309370	Ints5	integrator complex subunit 5	gene	DOID:1909	melanoma		ISO	RGD:1603295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309370	Ints5	integrator complex subunit 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309373	St3gal1	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309373	St3gal1	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309373	St3gal1	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309373	St3gal1	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1603709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309373	St3gal1	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309373	St3gal1	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309373	St3gal1	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309373	St3gal1	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603709	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309373	St3gal1	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	gene	DOID:9006549	Enterovirus Infections		ISO	RGD:1603709	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28446605
1309373	St3gal1	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309374	Ermard	ER membrane-associated RNA degradation	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1319689	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	
1309374	Ermard	ER membrane-associated RNA degradation	gene	DOID:0061269	periventricular nodular heterotopia 6		ISO	RGD:1319689	D	RGD:7240710	20140911	OMIM			
1309374	Ermard	ER membrane-associated RNA degradation	gene	DOID:0061269	periventricular nodular heterotopia 6		ISO	RGD:1319689	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: ERMARD-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 6	PMID:24056535|PMID:25741868|PMID:28492532
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1319690	D	RGD:11069733|PMID:21211617	20161019	RGD		DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G (human)	
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1319690	D	RGD:11072153|PMID:22499340	20161019	RGD		DNA:missense, frameshift, nonsense mutations:cds,splice junction:	
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1319690	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:21211617|PMID:22482978|PMID:22499340
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1319690	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:21211617|PMID:22499340|PMID:24033266|PMID:25741868|PMID:26945885|PMID:27530628|PMID:28123176|PMID:28492532|PMID:28935222|PMID:29068549
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1319690	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:25741868
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0060959	orofaciodigital syndrome II		ISO	RGD:1319690	D	RGD:7240710	20260722	OMIM			
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0060959	orofaciodigital syndrome II		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mohr syndrome | ClinVar Annotator: match by term: Orofaciodigital syndrome II	PMID:25741868|PMID:27530628|PMID:28492532|PMID:29068549
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0081378	amyotrophic lateral sclerosis type 24		ISO	RGD:1319690	D	RGD:7240710	20260722	OMIM			
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0081378	amyotrophic lateral sclerosis type 24		ISO	RGD:1319690	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 24	PMID:21211617|PMID:22499340|PMID:24033266|PMID:25741868|PMID:26945885|PMID:27455347|PMID:28123176|PMID:28492532|PMID:28935222|PMID:29068549|PMID:29149916|PMID:30408610|PMID:32920598|PMID:33445179
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0110085	asphyxiating thoracic dystrophy 1		ISO	RGD:1319690	D	RGD:8554872	20180807	ClinVar		ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1	PMID:25741868
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0110087	asphyxiating thoracic dystrophy 3		ISO	RGD:1319690	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly	PMID:25741868
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1319690	D	RGD:7240710	20260722	OMIM			
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1319690	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEK1-related condition | ClinVar Annotator: match by term: SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly | ClinVar Annotator: match by term: short-rib polydactyly syndrome type II	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21211617|PMID:22406018|PMID:22499340|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26945885|PMID:27455347|PMID:27530628|PMID:28089114|PMID:28123176|PMID:28492532|PMID:28710492|PMID:28935222|PMID:29068549|PMID:29149916|PMID:29431110|PMID:29650794|PMID:30093141|PMID:3014367|PMID:30408610|PMID:32462798|PMID:32920598|PMID:33445179|PMID:33770234|PMID:34275688|PMID:34544842|PMID:35495032|PMID:35587316|PMID:36443167|PMID:37952009|PMID:9536098
1309375	Nek1	NIMA-related kinase 1	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISS	RGD:1319691	D	RGD:13592920	20180518	MouseDO		OMIM:263200	
1309375	Nek1	NIMA-related kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309375	Nek1	NIMA-related kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309375	Nek1	NIMA-related kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309375	Nek1	NIMA-related kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309375	Nek1	NIMA-related kinase 1	gene	DOID:231	motor neuron disease		ISO	RGD:1319690	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Motor neuron disease	PMID:25741868|PMID:28089114|PMID:28492532
1309375	Nek1	NIMA-related kinase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:22499340|PMID:28492532|PMID:29068549
1309375	Nek1	NIMA-related kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309375	Nek1	NIMA-related kinase 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1319690	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26945885|PMID:27455347
1309375	Nek1	NIMA-related kinase 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1319690	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:21211617|PMID:22499340|PMID:24033266|PMID:25741868|PMID:26945885|PMID:28123176|PMID:28492532|PMID:28935222|PMID:29068549
1309375	Nek1	NIMA-related kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319690	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1309375	Nek1	NIMA-related kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:22499340|PMID:28492532|PMID:29068549
1309375	Nek1	NIMA-related kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309375	Nek1	NIMA-related kinase 1	gene	DOID:630	genetic disease		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309375	Nek1	NIMA-related kinase 1	gene	DOID:65	connective tissue disease		ISO	RGD:1319690	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28089114|PMID:28492532
1309375	Nek1	NIMA-related kinase 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1309375	Nek1	NIMA-related kinase 1	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vocal cord paralysis	PMID:263520
1309375	Nek1	NIMA-related kinase 1	gene	DOID:9000590	Dyspnea		ISO	RGD:1319690	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:21211617|PMID:22499340|PMID:24033266|PMID:25741868|PMID:26945885|PMID:28123176|PMID:28492532|PMID:28935222|PMID:29068549
1309375	Nek1	NIMA-related kinase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1309375	Nek1	NIMA-related kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309375	Nek1	NIMA-related kinase 1	gene	DOID:9007073	Cough		ISO	RGD:1319690	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cough	PMID:25741868|PMID:28089114|PMID:28492532
1309375	Nek1	NIMA-related kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1309375	Nek1	NIMA-related kinase 1	gene	DOID:9249	Beemer-Langer syndrome		ISO	RGD:1319690	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: short-rib polydactyly syndrome type IV	PMID:25741868|PMID:29068549
1309375	Nek1	NIMA-related kinase 1	gene	DOID:9565	dextrocardia		ISO	RGD:1319690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dextrocardia	PMID:25741868
1309376	Rec8	REC8 meiotic recombination protein	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1319692	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
1309376	Rec8	REC8 meiotic recombination protein	gene	DOID:10534	stomach cancer		ISO	RGD:1319692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309376	Rec8	REC8 meiotic recombination protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309376	Rec8	REC8 meiotic recombination protein	gene	DOID:1324	lung cancer		ISO	RGD:1319692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309376	Rec8	REC8 meiotic recombination protein	gene	DOID:14227	azoospermia		ISO	RGD:1319692	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Azoospermia	
1309376	Rec8	REC8 meiotic recombination protein	gene	DOID:1909	melanoma		ISO	RGD:1319692	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778180
1309376	Rec8	REC8 meiotic recombination protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309376	Rec8	REC8 meiotic recombination protein	gene	DOID:4362	cervical cancer		ISO	RGD:1319692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309376	Rec8	REC8 meiotic recombination protein	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1319692	D	RGD:8554872	20190507	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1309376	Rec8	REC8 meiotic recombination protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309376	Rec8	REC8 meiotic recombination protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309376	Rec8	REC8 meiotic recombination protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319692	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1309376	Rec8	REC8 meiotic recombination protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309376	Rec8	REC8 meiotic recombination protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309378	Scap	SREBF chaperone	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309378	Scap	SREBF chaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309378	Scap	SREBF chaperone	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309378	Scap	SREBF chaperone	gene	DOID:1115	sarcoma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309378	Scap	SREBF chaperone	gene	DOID:1324	lung cancer		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309378	Scap	SREBF chaperone	gene	DOID:1909	melanoma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309378	Scap	SREBF chaperone	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309378	Scap	SREBF chaperone	gene	DOID:3070	high grade glioma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309378	Scap	SREBF chaperone	gene	DOID:4362	cervical cancer		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309378	Scap	SREBF chaperone	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309378	Scap	SREBF chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309378	Scap	SREBF chaperone	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604827	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563831
1309378	Scap	SREBF chaperone	gene	DOID:783	end stage renal disease	multiple interactions	IEP		D	RGD:2326081|PMID:19878707	20230912	RGD			
1309378	Scap	SREBF chaperone	gene	DOID:9000808	Hypercholesterolemia		IEP		D	RGD:1581819|PMID:16741953	20090610	RGD		protein:increased expression:liver	
1309378	Scap	SREBF chaperone	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:5490977|PMID:20973890	20120321	RGD			
1309378	Scap	SREBF chaperone	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309378	Scap	SREBF chaperone	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309378	Scap	SREBF chaperone	gene	DOID:9256	colorectal cancer		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1319697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1319697	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097067
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1319697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1319697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:2841	asthma		ISO	RGD:1319697	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:24453940
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:418	systemic scleroderma		ISO	RGD:1319697	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21750679
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:8893	psoriasis		ISO	RGD:1319697	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19169254|PMID:20953190
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319697	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
1309380	Tnip1	TNFAIP3 interacting protein 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1319697	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838193|PMID:19838195
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:0050745	diffuse large B-cell lymphoma	disease_progression	ISO	RGD:1319699	D	RGD:149735347|PMID:25195038	20210716	RGD			
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:0050902	medulloblastoma		ISO	RGD:1319699	D	RGD:8554872	20191008	ClinVar		ClinVar Annotator: match by term: Medulloblastoma	PMID:25741868
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17920623|PMID:21205968|PMID:22187960|PMID:23132766|PMID:23868280|PMID:24136150|PMID:24617712|PMID:24675358|PMID:24909177|PMID:25741868|PMID:26033501|PMID:26461232|PMID:26545620|PMID:26592504|PMID:26925222|PMID:27459524|PMID:27993330|PMID:28323992|PMID:28492532|PMID:29037807|PMID:29474644|PMID:29726952|PMID:29881993|PMID:30260442|PMID:30266945|PMID:31417090|PMID:31603374|PMID:31900434|PMID:32228164|PMID:33080613|PMID:33135284|PMID:33846547|PMID:34166060
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:0060852	Pierson syndrome		ISO	RGD:1319699	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Pierson syndrome	PMID:19556464|PMID:21266384|PMID:24839956|PMID:25741868|PMID:26925222|PMID:28492532|PMID:28862265|PMID:33372952
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:0080561	congenital disorder of glycosylation Ii		ISO	RGD:1319699	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I	PMID:19556464|PMID:21501861|PMID:24909177|PMID:25118636|PMID:25741868|PMID:26833330|PMID:26925222
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:0080615	nephroma		ISO	RGD:1319699	D	RGD:149735348|PMID:24481001	20210716	RGD		DNA:mutations: :	
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1319699	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:38874686
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:0081063	DICER1 syndrome		ISO	RGD:1319699	D	RGD:7240710	20220406	OMIM			
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:0081063	DICER1 syndrome		ISO	RGD:1319699	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DICER1 syndrome	PMID:16199547|PMID:17576681|PMID:17923214|PMID:19556464|PMID:21205968|PMID:21266384|PMID:21501861|PMID:21882293|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23068969|PMID:23132766|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25526195|PMID:25741868|PMID:25836323|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26428316|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26545620|PMID:26555935|PMID:26592504|PMID:26841698|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27126690|PMID:27459524|PMID:27664536|PMID:27993330|PMID:28007021|PMID:28012864|PMID:28177962|PMID:28323992|PMID:28492532|PMID:28524158|PMID:28624956|PMID:28654427|PMID:28751916|PMID:28825729|PMID:28862265|PMID:28960912|PMID:29037807|PMID:29315962|PMID:29351919|PMID:29474644|PMID:29762508|PMID:29881993|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30672147|PMID:31285663|PMID:31342592|PMID:31408196|PMID:31537896|PMID:31603374|PMID:31900434|PMID:31990691|PMID:32714280|PMID:32973888|PMID:33135284|PMID:33484847|PMID:33503190|PMID:33718253|PMID:33729574|PMID:33846547|PMID:34017064|PMID:34166060|PMID:34329835|PMID:34926252|PMID:35101336|PMID:35941719|PMID:36251117|PMID:36922881|PMID:38084291|PMID:38558329|PMID:38874686|PMID:39283830|PMID:40161378|PMID:9345104|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:21266384|PMID:25176334|PMID:27993330|PMID:29881993|PMID:31820118|PMID:32291395|PMID:35901678
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:0081304	high-grade astrocytoma with piloid features		ISO	RGD:1319699	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: High-grade astrocytoma with piloid features	PMID:25741868|PMID:28492532
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:0081316	primary intracranial sarcoma, DICER1-mutant		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary intracranial sarcoma, DICER1-mutant	PMID:17920623|PMID:17923214|PMID:19061226|PMID:21205968|PMID:21882293|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24065110|PMID:24136150|PMID:24151152|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24839956|PMID:24909177|PMID:25118636|PMID:25176334|PMID:25231023|PMID:25356068|PMID:25451712|PMID:25741868|PMID:25803323|PMID:25836323|PMID:26033159|PMID:26033501|PMID:26289771|PMID:26428316|PMID:26461232|PMID:26475046|PMID:26545620|PMID:26555935|PMID:26556299|PMID:26592504|PMID:26841698|PMID:26886166|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27993330|PMID:28177962|PMID:28323992|PMID:28524158|PMID:28624956|PMID:28654427|PMID:28751916|PMID:28766837|PMID:28825729|PMID:28834809|PMID:28862265|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29660837|PMID:29726952|PMID:29753010|PMID:29881993|PMID:29883781|PMID:29943907|PMID:30260442|PMID:30266945|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30956758|PMID:31342592|PMID:31417090|PMID:31487013|PMID:31537896|PMID:31603374|PMID:31900434|PMID:31990691|PMID:32291395|PMID:32910017|PMID:33135284|PMID:33484847|PMID:33846547|PMID:34017064|PMID:34166060|PMID:34169133|PMID:34313965|PMID:34580763|PMID:34674226|PMID:35101336|PMID:35941719|PMID:36251117|PMID:36966138|PMID:37160531|PMID:38558329|PMID:39283830|PMID:40161378
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:10283	prostate cancer		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:25741868|PMID:28492532|PMID:38084291
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:10534	stomach cancer		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1319699	D	RGD:149735323|PMID:18167183	20210714	RGD			
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:1115	sarcoma		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:11198	DiGeorge syndrome		ISS	RGD:1319700	D	RGD:13592920	20180518	MouseDO		OMIM:188400	
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:11830	myopia		ISO	RGD:1319699	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:12176	goiter		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:28492532|PMID:33630087
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:12930	dilated cardiomyopathy		ISS	RGD:1319700	D	RGD:13592920	20180518	MouseDO			
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:1324	lung cancer		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:1324	lung cancer	exacerbates	ISO	RGD:1319700	D	RGD:149735199|PMID:19903759	20210713	RGD			
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:14228	oligospermia		ISO	RGD:1319699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22381205
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:17923214|PMID:21882293|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23728841|PMID:23868280|PMID:24136150|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24675358|PMID:24839956|PMID:24909177|PMID:25176334|PMID:25190313|PMID:25356068|PMID:25741868|PMID:25836323|PMID:26033159|PMID:26033501|PMID:26289771|PMID:26428316|PMID:26475046|PMID:26545620|PMID:26555935|PMID:26556299|PMID:26592504|PMID:26841698|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27126690|PMID:27459524|PMID:27664536|PMID:27993330|PMID:28177962|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28524158|PMID:28624956|PMID:28654427|PMID:28751916|PMID:28825729|PMID:28862265|PMID:29037807|PMID:29315962|PMID:29474644|PMID:29881993|PMID:30014022|PMID:30260442|PMID:30266945|PMID:30649606|PMID:31342592|PMID:31537896|PMID:31603374|PMID:31900434|PMID:31990691|PMID:33135284|PMID:33484847|PMID:33846547|PMID:34017064|PMID:34166060|PMID:35101336|PMID:35941719|PMID:36251117|PMID:38558329|PMID:39283830|PMID:40161378
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:1664	pineoblastoma		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pineoblastoma	PMID:19556464|PMID:21266384|PMID:24909177|PMID:25022261|PMID:25118636|PMID:25741868|PMID:26925222|PMID:27459524|PMID:28492532|PMID:29351919|PMID:30097050|PMID:31408196|PMID:34329835
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:1924	hypogonadism		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:28492532
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:2030	anxiety disorder		ISO	RGD:1319699	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:2154	nephroblastoma		ISO	RGD:1319699	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:2394	ovarian cancer		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:2673	adult cystic nephroma		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Benign cystic nephroma	PMID:17920623|PMID:21205968|PMID:22187960|PMID:23132766|PMID:23868280|PMID:24136150|PMID:24617712|PMID:24675358|PMID:24909177|PMID:25741868|PMID:26033501|PMID:26461232|PMID:26545620|PMID:26592504|PMID:26925222|PMID:27459524|PMID:27993330|PMID:28323992|PMID:28492532|PMID:29037807|PMID:29474644|PMID:29726952|PMID:29881993|PMID:30260442|PMID:30266945|PMID:31417090|PMID:31603374|PMID:31900434|PMID:32228164|PMID:33080613|PMID:33135284|PMID:33846547|PMID:34166060
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:289	endometriosis		ISO	RGD:1319699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:2997	Sertoli-Leydig cell tumor		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sertoli-Leydig cell tumor	PMID:17920623|PMID:17923214|PMID:19061226|PMID:21205968|PMID:21882293|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24065110|PMID:24136150|PMID:24151152|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24823459|PMID:24839956|PMID:24909177|PMID:25118636|PMID:25176334|PMID:25356068|PMID:25451712|PMID:25741868|PMID:25803323|PMID:25836323|PMID:26033159|PMID:26033501|PMID:26289771|PMID:26428316|PMID:26461232|PMID:26475046|PMID:26545620|PMID:26555935|PMID:26556299|PMID:26592504|PMID:26841698|PMID:26886166|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27993330|PMID:28177962|PMID:28323992|PMID:28492532|PMID:28524158|PMID:28624956|PMID:28654427|PMID:28751916|PMID:28766837|PMID:28825729|PMID:28834809|PMID:28862265|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29660837|PMID:29726952|PMID:29753010|PMID:29881993|PMID:29943907|PMID:30260442|PMID:30266945|PMID:30446821|PMID:30585947|PMID:30649606|PMID:30956758|PMID:31342592|PMID:31417090|PMID:31487013|PMID:31537896|PMID:31603374|PMID:31900434|PMID:31990691|PMID:32291395|PMID:33135284|PMID:33484847|PMID:33846547|PMID:34017064|PMID:34166060|PMID:34313965|PMID:34580763|PMID:34674226|PMID:35101336|PMID:35941719|PMID:36251117|PMID:36966138|PMID:37160531|PMID:38558329|PMID:39283830|PMID:40161378
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:17920623|PMID:17923214|PMID:19061226|PMID:21205968|PMID:21882293|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23728841|PMID:23868280|PMID:24136150|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24675358|PMID:24839956|PMID:24909177|PMID:25176334|PMID:25190313|PMID:25356068|PMID:25741868|PMID:25836323|PMID:26033159|PMID:26033501|PMID:26289771|PMID:26428316|PMID:26461232|PMID:26475046|PMID:26545620|PMID:26555935|PMID:26556299|PMID:26592504|PMID:26841698|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27126690|PMID:27459524|PMID:27664536|PMID:27697588|PMID:27993330|PMID:28177962|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28624956|PMID:28654427|PMID:28751916|PMID:28766837|PMID:28825729|PMID:28862265|PMID:29037807|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29474644|PMID:29726952|PMID:29753010|PMID:29881993|PMID:30014022|PMID:30260442|PMID:30266945|PMID:30446821|PMID:30649606|PMID:31342592|PMID:31417090|PMID:31537896|PMID:31603374|PMID:31900434|PMID:31990691|PMID:32228164|PMID:32291395|PMID:33080613|PMID:33135284|PMID:33484847|PMID:33846547|PMID:34017064|PMID:34166060|PMID:34313965|PMID:34580763|PMID:35101336|PMID:35941719|PMID:36251117|PMID:36966138|PMID:37160531|PMID:38558329|PMID:39283830|PMID:40161378
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:15242644|PMID:17920623|PMID:17923214|PMID:19556464|PMID:21266384|PMID:21882293|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24839956|PMID:24909177|PMID:25176334|PMID:25451712|PMID:25741868|PMID:25836323|PMID:26033159|PMID:26033501|PMID:26289771|PMID:26428316|PMID:26461232|PMID:26475046|PMID:26545620|PMID:26555935|PMID:26592504|PMID:26886166|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27126690|PMID:27459524|PMID:27664536|PMID:27993330|PMID:28177962|PMID:28323992|PMID:28492532|PMID:28624956|PMID:28654427|PMID:28751916|PMID:28825729|PMID:28862265|PMID:29037807|PMID:29315962|PMID:29474644|PMID:29881993|PMID:30260442|PMID:30266945|PMID:31342592|PMID:31537896|PMID:31603374|PMID:31900434|PMID:31990691|PMID:33135284|PMID:33372952|PMID:33484847|PMID:33846547|PMID:34017064|PMID:34166060|PMID:35101336|PMID:35941719|PMID:36251117|PMID:38558329|PMID:39283830|PMID:40161378
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:3275	thymoma		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:3459	breast carcinoma		ISO	RGD:1319699	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:19556464|PMID:21266384|PMID:25741868|PMID:26461232|PMID:26822237|PMID:26925222|PMID:26928971|PMID:28097783|PMID:28323992|PMID:28492532|PMID:28960912|PMID:31900434
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:3525	middle cerebral artery infarction		IEP		D	RGD:11553310|PMID:26294080	20210723	RGD		mRNA:decreased expression:brain:	
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:3962	follicular thyroid carcinoma		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Follicular thyroid carcinoma	PMID:17920623|PMID:19061226|PMID:21205968|PMID:21882293|PMID:22187960|PMID:23132766|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24839956|PMID:24909177|PMID:25118636|PMID:25176334|PMID:25356068|PMID:25741868|PMID:25836323|PMID:26033159|PMID:26033501|PMID:26289771|PMID:26428316|PMID:26461232|PMID:26475046|PMID:26545620|PMID:26556299|PMID:26592504|PMID:26841698|PMID:26925222|PMID:26983701|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27993330|PMID:28323992|PMID:28492532|PMID:28524158|PMID:28654427|PMID:28766837|PMID:28825729|PMID:28862265|PMID:29037807|PMID:29187512|PMID:29351919|PMID:29395683|PMID:29474644|PMID:29660837|PMID:29726952|PMID:29753010|PMID:29881993|PMID:29883781|PMID:30260442|PMID:30266945|PMID:30446821|PMID:30597651|PMID:30649606|PMID:30956758|PMID:31417090|PMID:31487013|PMID:31603374|PMID:31900434|PMID:32228164|PMID:32291395|PMID:32910017|PMID:33080613|PMID:33135284|PMID:33846547|PMID:34166060|PMID:34169133|PMID:34313965|PMID:34580763|PMID:34674226|PMID:36251117|PMID:36966138|PMID:37160531
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Papillary thyroid carcinoma	PMID:17923214|PMID:21205968|PMID:21882293|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23728841|PMID:23868280|PMID:24136150|PMID:24151152|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24823459|PMID:24839956|PMID:24909177|PMID:25118636|PMID:25176334|PMID:25356068|PMID:25741868|PMID:25836323|PMID:26033159|PMID:26033501|PMID:26289771|PMID:26428316|PMID:26475046|PMID:26545620|PMID:26555935|PMID:26592504|PMID:26841698|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27126690|PMID:27459524|PMID:27664536|PMID:27993330|PMID:28177962|PMID:28323992|PMID:28624956|PMID:28654427|PMID:28751916|PMID:28766837|PMID:28825729|PMID:28834809|PMID:28862265|PMID:29037807|PMID:29315962|PMID:29474644|PMID:29660837|PMID:29881993|PMID:30260442|PMID:30266945|PMID:30446821|PMID:30649606|PMID:30956758|PMID:31342592|PMID:31417090|PMID:31487013|PMID:31537896|PMID:31603374|PMID:31900434|PMID:31990691|PMID:32291395|PMID:33135284|PMID:33484847|PMID:33846547|PMID:34017064|PMID:34166060|PMID:34674226|PMID:35101336|PMID:35941719|PMID:36251117|PMID:36966138|PMID:38558329|PMID:39283830|PMID:40161378
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:4362	cervical cancer		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:4454	childhood kidney cell carcinoma		ISO	RGD:1319699	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Childhood kidney cell carcinoma	PMID:25741868|PMID:28492532
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:4769	pleuropulmonary blastoma		ISO	RGD:1319699	D	RGD:11552609|PMID:19556464	20210713	RGD		DNA:mutations:cds	
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:4769	pleuropulmonary blastoma		ISO	RGD:1319699	D	RGD:11554173	20220412	CTD		CTD Direct Evidence: marker/mechanism	
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:4769	pleuropulmonary blastoma		ISO	RGD:1319699	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | ClinVar Annotator: match by term: PLEUROPULMONARY BLASTOMA | ClinVar Annotator: match by term: Pleuropulmonary blastoma	PMID:15242644|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:19061226|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:22717647|PMID:23068969|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24151152|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24628552|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24823459|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25190313|PMID:25231023|PMID:25356068|PMID:25451712|PMID:25526195|PMID:25670083|PMID:25741868|PMID:25803323|PMID:25836323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26545620|PMID:26555935|PMID:26556299|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27896549|PMID:27993330|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28222777|PMID:28323992|PMID:28459098|PMID:28492532|PMID:28524158|PMID:28624956|PMID:28654427|PMID:28751916|PMID:28766837|PMID:28825729|PMID:28834809|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29275930|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29469200|PMID:29474644|PMID:29538609|PMID:29633305|PMID:29660837|PMID:29726952|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29887214|PMID:29938629|PMID:29943907|PMID:30014022|PMID:30072170|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30956758|PMID:31067372|PMID:31285663|PMID:31296931|PMID:31342592|PMID:31408196|PMID:31417090|PMID:31487013|PMID:31537896|PMID:31603374|PMID:31900434|PMID:31911633|PMID:31990691|PMID:32228164|PMID:32291395|PMID:32714280|PMID:32729194|PMID:32832832|PMID:32910017|PMID:32973888|PMID:33080613|PMID:33135284|PMID:33158809|PMID:33208384|PMID:33484847|PMID:33503190|PMID:33718253|PMID:33729574|PMID:33846547|PMID:34017064|PMID:34166060|PMID:34169133|PMID:34291157|PMID:34308366|PMID:34313965|PMID:34329835|PMID:34552563|PMID:34580763|PMID:34674226|PMID:34761719|PMID:34926252|PMID:35101336|PMID:35728810|PMID:35941719|PMID:36251117|PMID:36922881|PMID:36966138|PMID:37160531|PMID:37248399|PMID:38084291|PMID:38558329|PMID:38874686|PMID:38898688|PMID:39283830|PMID:40161378|PMID:9345104|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:4769	pleuropulmonary blastoma		ISO	RGD:1319700	D	RGD:149735200|PMID:25500911	20210713	RGD			
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:502	central nervous system mesenchymal non-meningothelial tumor		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central nervous system mesenchymal non-meningothelial tumor	PMID:27993330|PMID:29881993|PMID:30649606|PMID:32291395
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:5041	esophageal cancer		ISO	RGD:1319699	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:5223	infertility		ISO	RGD:1319700	D	RGD:150340620|PMID:25525274	20210819	RGD			
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:16199547|PMID:19556464|PMID:21266384|PMID:28492532
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:6032	juvenile type testicular granulosa cell tumor		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Juvenile type testicular granulosa cell tumor	PMID:22187960|PMID:23132766|PMID:24065110|PMID:24676357|PMID:24839956|PMID:25451712|PMID:25741868|PMID:26033159|PMID:26033501|PMID:26408257|PMID:26475046|PMID:26545620|PMID:26555935|PMID:26886166|PMID:26925222|PMID:27459524|PMID:27993330|PMID:28323992|PMID:28492532|PMID:29037807|PMID:29187512|PMID:29275930|PMID:29351919|PMID:30260442|PMID:31342592|PMID:38084291
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1319699	D	RGD:149735346|PMID:23868705	20210716	RGD		associated with hepatitis B; DNA:SNP: :rs1057035 T>C (human)	
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:768	retinoblastoma	exacerbates	ISO	RGD:1319700	D	RGD:149735324|PMID:20019750	20210714	RGD		DNA:deletion:haploinsufficiency	
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:769	neuroblastoma		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:22367537|PMID:27993330|PMID:36973454
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:7998	hyperthyroidism		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:19556464|PMID:21266384|PMID:22180160|PMID:25741868|PMID:28492532|PMID:33630087
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9003507	Premature Birth		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532|PMID:33630087
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319699	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9004454	Multinodular Goiter 1		ISO	RGD:1319699	D	RGD:7240710	20220216	OMIM			
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9004454	Multinodular Goiter 1		ISO	RGD:1319699	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Euthyroid goiter | ClinVar Annotator: match by term: GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS | ClinVar Annotator: match by term: Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | ClinVar Annotator: match by term: SIMPLE GOITER	PMID:16199547|PMID:19556464|PMID:21205968|PMID:21266384|PMID:21882293|PMID:22187960|PMID:24708902|PMID:24728327|PMID:24909177|PMID:25741868|PMID:26033159|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26577641|PMID:26822237|PMID:26925222|PMID:26928971|PMID:27459524|PMID:28097783|PMID:28323992|PMID:28492532|PMID:28960912|PMID:29469200|PMID:30014022|PMID:30672147|PMID:31342592|PMID:31900434|PMID:33158809|PMID:33718253|PMID:34291157|PMID:38084291|PMID:38874686|PMID:9345104
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9005606	Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor		ISO	RGD:1319699	D	RGD:7240710	20190315	OMIM			
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9005606	Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor		ISO	RGD:1319699	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GLOW SYNDROME | ClinVar Annotator: match by term: GLOW Syndrome	PMID:16199547|PMID:17576681|PMID:19556464|PMID:21205968|PMID:21266384|PMID:21882293|PMID:23620094|PMID:23868280|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24728327|PMID:24839956|PMID:24909177|PMID:25190313|PMID:25356068|PMID:25741868|PMID:25836323|PMID:26033159|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26555935|PMID:26556299|PMID:26577641|PMID:26580448|PMID:26822237|PMID:26841698|PMID:26893459|PMID:26925222|PMID:26928971|PMID:27126690|PMID:27459524|PMID:27930734|PMID:27993330|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28862265|PMID:28960912|PMID:29315962|PMID:29469200|PMID:29881993|PMID:29945567|PMID:30014022|PMID:30266945|PMID:30649606|PMID:30672147|PMID:31342592|PMID:31603374|PMID:31900434|PMID:31911633|PMID:32832834|PMID:33158809|PMID:33718253|PMID:33729574|PMID:34291157|PMID:35101336|PMID:38084291|PMID:38874686|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17920623|PMID:21205968|PMID:22187960|PMID:23132766|PMID:23868280|PMID:24136150|PMID:24617712|PMID:24675358|PMID:24909177|PMID:25741868|PMID:26033501|PMID:26461232|PMID:26545620|PMID:26592504|PMID:26925222|PMID:27459524|PMID:27993330|PMID:28323992|PMID:28492532|PMID:29037807|PMID:29474644|PMID:29726952|PMID:29881993|PMID:30260442|PMID:30266945|PMID:31417090|PMID:31603374|PMID:31900434|PMID:32228164|PMID:33080613|PMID:33135284|PMID:33846547|PMID:34166060
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319699	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22180160|PMID:22187960|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25348012|PMID:25451712|PMID:25670082|PMID:25741868|PMID:26241669|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26628006|PMID:26666178|PMID:26822237|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:27050224|PMID:27459524|PMID:27819237|PMID:27896549|PMID:27930734|PMID:28012864|PMID:28097783|PMID:28166811|PMID:28202063|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28748527|PMID:28825729|PMID:28862265|PMID:29037807|PMID:29187512|PMID:29351919|PMID:29399970|PMID:29474644|PMID:29641532|PMID:29708584|PMID:29762508|PMID:29881993|PMID:29883781|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31342592|PMID:33718253|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319699	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22180160|PMID:22187960|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25348012|PMID:25451712|PMID:25670082|PMID:25741868|PMID:26241669|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26628006|PMID:26666178|PMID:26822237|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:27050224|PMID:27459524|PMID:27819237|PMID:27896549|PMID:27930734|PMID:28012864|PMID:28097783|PMID:28202063|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28748527|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29351919|PMID:29399970|PMID:29474644|PMID:29641532|PMID:29708584|PMID:29762508|PMID:29881993|PMID:29883781|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31342592|PMID:31820118|PMID:32714280|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34313605|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319699	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25670082|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34291157|PMID:34313605|PMID:9345104|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319699	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25525159|PMID:25670082|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32371905|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33372952|PMID:33484847|PMID:33630087|PMID:33718253|PMID:33729574|PMID:33767345|PMID:34291157|PMID:34313605|PMID:34913555|PMID:35194848|PMID:9345104|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319699	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25525159|PMID:25670082|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27854218|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29276006|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32371905|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33372952|PMID:33484847|PMID:33630087|PMID:33718253|PMID:33729574|PMID:33767345|PMID:33782093|PMID:34291157|PMID:34313605|PMID:34913555|PMID:35194848|PMID:9345104|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319699	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25525159|PMID:25670082|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26833330|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31296931|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32371905|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33372952|PMID:33484847|PMID:33630087|PMID:33718253|PMID:33729574|PMID:33767345|PMID:33782093|PMID:34291157|PMID:34313605|PMID:34761719|PMID:34913555|PMID:35194848|PMID:9345104|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319699	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25525159|PMID:25670082|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31296931|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32371905|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33372952|PMID:33484847|PMID:33630087|PMID:33718253|PMID:33729574|PMID:33767345|PMID:33782093|PMID:34291157|PMID:34313605|PMID:34761719|PMID:34913555|PMID:35194848|PMID:9345104|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319699	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23068969|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25525159|PMID:25670082|PMID:25670083|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29276006|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31296931|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32371905|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33372952|PMID:33484847|PMID:33630087|PMID:33718253|PMID:33729574|PMID:33767345|PMID:33782093|PMID:34291157|PMID:34313605|PMID:34761719|PMID:34913555|PMID:35194848|PMID:9345104|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319699	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23027947|PMID:23068969|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24151152|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25525159|PMID:25670082|PMID:25670083|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28459098|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28834809|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29726952|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31296931|PMID:31300551|PMID:31342592|PMID:31417090|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32371905|PMID:32714280|PMID:32729194|PMID:32973888|PMID:33158809|PMID:33372952|PMID:33484847|PMID:33606809|PMID:33630087|PMID:33718253|PMID:33729574|PMID:33767345|PMID:33782093|PMID:34291157|PMID:34313605|PMID:34761719|PMID:34913555|PMID:35194848|PMID:35728810|PMID:35739269|PMID:38084291|PMID:38136308|PMID:38874686|PMID:39001563|PMID:9345104|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319699	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23027947|PMID:23068969|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24151152|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25525159|PMID:25670082|PMID:25670083|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28459098|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28834809|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29726952|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30455982|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31296931|PMID:31300551|PMID:31342592|PMID:31417090|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32371905|PMID:32714280|PMID:32729194|PMID:32973888|PMID:33057194|PMID:33158809|PMID:33372952|PMID:33484847|PMID:33606809|PMID:33630087|PMID:33718253|PMID:33729574|PMID:33767345|PMID:33782093|PMID:34291157|PMID:34313605|PMID:34761719|PMID:34913555|PMID:34926252|PMID:35194848|PMID:35728810|PMID:35739269|PMID:36149413|PMID:36315513|PMID:38084291|PMID:38127826|PMID:38136308|PMID:38874686|PMID:39001563|PMID:9345104|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer predisposing syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19061226|PMID:19556464|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23068969|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24151152|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25190313|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25670082|PMID:25670083|PMID:25741868|PMID:25803323|PMID:25836323|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26556299|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:27993330|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28222777|PMID:28323992|PMID:28459098|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28748527|PMID:28751916|PMID:28766837|PMID:28825729|PMID:28834809|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29275930|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29469200|PMID:29474644|PMID:29538609|PMID:29625052|PMID:29641532|PMID:29660837|PMID:29726952|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29887214|PMID:29943907|PMID:29945567|PMID:30014022|PMID:30072170|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30455982|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30956758|PMID:31067372|PMID:31285663|PMID:31296931|PMID:31300551|PMID:31342592|PMID:31408196|PMID:31417090|PMID:31487013|PMID:31537896|PMID:31603374|PMID:31900434|PMID:31911633|PMID:31990691|PMID:32228164|PMID:32291395|PMID:32714280|PMID:32729194|PMID:32832834|PMID:32973888|PMID:33057194|PMID:33080613|PMID:33135284|PMID:33158809|PMID:33484847|PMID:33503190|PMID:33630087|PMID:33718253|PMID:33729574|PMID:33846547|PMID:34017064|PMID:34166060|PMID:34291157|PMID:34313965|PMID:34329835|PMID:34580763|PMID:34674226|PMID:34926252|PMID:35101336|PMID:35728810|PMID:35941719|PMID:36149413|PMID:36251117|PMID:36315513|PMID:36966138|PMID:37160531|PMID:38084291|PMID:38558329|PMID:38874686|PMID:39283830|PMID:39669609|PMID:40161378|PMID:9345104|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319699	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19061226|PMID:19556464|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23068969|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24151152|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25190313|PMID:25356068|PMID:25451712|PMID:25670082|PMID:25670083|PMID:25741868|PMID:25803323|PMID:25836323|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26556299|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:27993330|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28222777|PMID:28323992|PMID:28459098|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28748527|PMID:28751916|PMID:28766837|PMID:28825729|PMID:28834809|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29275930|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29469200|PMID:29474644|PMID:29538609|PMID:29625052|PMID:29641532|PMID:29660837|PMID:29726952|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29887214|PMID:29943907|PMID:29945567|PMID:30014022|PMID:30072170|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30455982|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30956758|PMID:31067372|PMID:31285663|PMID:31296931|PMID:31300551|PMID:31342592|PMID:31408196|PMID:31417090|PMID:31487013|PMID:31537896|PMID:31603374|PMID:31900434|PMID:31911633|PMID:31990691|PMID:32228164|PMID:32291395|PMID:32714280|PMID:32729194|PMID:32832834|PMID:32973888|PMID:33057194|PMID:33080613|PMID:33135284|PMID:33158809|PMID:33484847|PMID:33503190|PMID:33630087|PMID:33718253|PMID:33729574|PMID:33846547|PMID:34017064|PMID:34166060|PMID:34291157|PMID:34313965|PMID:34329835|PMID:34580763|PMID:34674226|PMID:34926252|PMID:35101336|PMID:35728810|PMID:35941719|PMID:36149413|PMID:36251117|PMID:36315513|PMID:36966138|PMID:37160531|PMID:38084291|PMID:38558329|PMID:38874686|PMID:39283830|PMID:39669609|PMID:40161378|PMID:40226310|PMID:9345104|PMID:9536098
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1319699	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:24478143
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9008041	Ovarian Gynandroblastoma		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian gynandroblastoma	PMID:21205968|PMID:24481001|PMID:24617712|PMID:24839956|PMID:25118636|PMID:25356068|PMID:25741868|PMID:25836323|PMID:26033159|PMID:26033501|PMID:26289771|PMID:26428316|PMID:26461232|PMID:26841698|PMID:27459524|PMID:27697588|PMID:27993330|PMID:28524158|PMID:28654427|PMID:28766837|PMID:29037807|PMID:29395683|PMID:29660837|PMID:29881993|PMID:29883781|PMID:30260442|PMID:30597651|PMID:31487013|PMID:32291395|PMID:32910017|PMID:33135284|PMID:34169133|PMID:34313965|PMID:34580763|PMID:34674226|PMID:36251117|PMID:36966138|PMID:37160531
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9008053	Embryonal Rhabdomyosarcoma 2		ISO	RGD:1319699	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9008053	Embryonal Rhabdomyosarcoma 2		ISO	RGD:1319699	D	RGD:7240710	20171011	OMIM			
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9008053	Embryonal Rhabdomyosarcoma 2		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2	PMID:16199547|PMID:19556464|PMID:21266384|PMID:21882293|PMID:24728327|PMID:24909177|PMID:25022261|PMID:25118636|PMID:25741868|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26577641|PMID:26822237|PMID:26925222|PMID:26928971|PMID:27459524|PMID:28097783|PMID:28323992|PMID:28492532|PMID:28960912|PMID:29351919|PMID:29469200|PMID:30014022|PMID:30097050|PMID:30672147|PMID:31342592|PMID:31408196|PMID:31900434|PMID:33158809|PMID:33718253|PMID:34291157|PMID:34329835|PMID:38084291|PMID:38874686
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:25741868
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1319699	D	RGD:149735326|PMID:24649159	20210714	RGD			
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1319699	D	RGD:149735345|PMID:30833603	20210716	RGD		DNA:SNP: :rs3742330 A>G (human)	
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9351	diabetes mellitus		ISO	RGD:1319700	D	RGD:149735536|PMID:22216196	20210721	RGD			
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9409	diabetes insipidus		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:25741868|PMID:28492532
1309381	Dicer1	dicer 1 ribonuclease III	gene	DOID:9970	obesity		ISO	RGD:1319699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
1309382	Ankrd46	ankyrin repeat domain 46	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309382	Ankrd46	ankyrin repeat domain 46	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309382	Ankrd46	ankyrin repeat domain 46	gene	DOID:10534	stomach cancer		ISO	RGD:1606443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309382	Ankrd46	ankyrin repeat domain 46	gene	DOID:3070	high grade glioma		ISO	RGD:1606443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309382	Ankrd46	ankyrin repeat domain 46	gene	DOID:4362	cervical cancer		ISO	RGD:1606443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309382	Ankrd46	ankyrin repeat domain 46	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309382	Ankrd46	ankyrin repeat domain 46	gene	DOID:5041	esophageal cancer		ISO	RGD:1606443	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309382	Ankrd46	ankyrin repeat domain 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309382	Ankrd46	ankyrin repeat domain 46	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309382	Ankrd46	ankyrin repeat domain 46	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309383	Cenpt	centromere protein T	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309383	Cenpt	centromere protein T	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309383	Cenpt	centromere protein T	gene	DOID:10534	stomach cancer		ISO	RGD:1604795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309383	Cenpt	centromere protein T	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309383	Cenpt	centromere protein T	gene	DOID:1324	lung cancer		ISO	RGD:1604795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309383	Cenpt	centromere protein T	gene	DOID:5041	esophageal cancer		ISO	RGD:1604795	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309383	Cenpt	centromere protein T	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309383	Cenpt	centromere protein T	gene	DOID:9004567	Short Stature and Microcephaly with Genital Anomalies		ISO	RGD:1604795	D	RGD:7240710	20200101	OMIM			
1309383	Cenpt	centromere protein T	gene	DOID:9004567	Short Stature and Microcephaly with Genital Anomalies		ISO	RGD:1604795	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CENPT-related condition | ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies	PMID:25741868
1309383	Cenpt	centromere protein T	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309384	Rnf24	ring finger protein 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309384	Rnf24	ring finger protein 24	gene	DOID:3070	high grade glioma		ISO	RGD:1319703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309384	Rnf24	ring finger protein 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1319703	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309384	Rnf24	ring finger protein 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309384	Rnf24	ring finger protein 24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309385	Flywch1	FLYWCH-type zinc finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309385	Flywch1	FLYWCH-type zinc finger 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309385	Flywch1	FLYWCH-type zinc finger 1	gene	DOID:1115	sarcoma		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309385	Flywch1	FLYWCH-type zinc finger 1	gene	DOID:1324	lung cancer		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309385	Flywch1	FLYWCH-type zinc finger 1	gene	DOID:14681	Silver-Russell syndrome		ISO	RGD:1346259	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Russell-Silver syndrome	PMID:25741868
1309385	Flywch1	FLYWCH-type zinc finger 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309385	Flywch1	FLYWCH-type zinc finger 1	gene	DOID:3275	thymoma		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309385	Flywch1	FLYWCH-type zinc finger 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309385	Flywch1	FLYWCH-type zinc finger 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346259	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309385	Flywch1	FLYWCH-type zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309385	Flywch1	FLYWCH-type zinc finger 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309385	Flywch1	FLYWCH-type zinc finger 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309385	Flywch1	FLYWCH-type zinc finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309386	Mical1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309386	Mical1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:0060748	familial temporal lobe epilepsy 1		ISO	RGD:1604315	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1	PMID:25741868|PMID:28492532
1309386	Mical1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309386	Mical1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309386	Mical1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309386	Mical1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309386	Mical1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309386	Mical1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1604315	D	RGD:8554872	20230502	ClinVar		ClinVar Annotator: match by term: MICAL1-related Lateral temporal epilepsy | ClinVar Annotator: match by term: MICAL1-related lateral temporal epilepsy	PMID:17576681|PMID:28492532|PMID:9536098
1309386	Mical1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309386	Mical1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309386	Mical1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309386	Mical1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309386	Mical1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309386	Mical1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:10534	stomach cancer		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:1324	lung cancer		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:1909	melanoma		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:3275	thymoma		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:4362	cervical cancer		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:5041	esophageal cancer		ISO	RGD:1606804	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309387	Noc2l	NOC2-like nucleolar associated transcriptional repressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606804	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:0060058	lymphoma		ISO	RGD:1607055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:0111111	maturity-onset diabetes of the young type 14		ISO	RGD:1607055	D	RGD:7240710	20170510	OMIM			
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:0111111	maturity-onset diabetes of the young type 14		ISO	RGD:1607055	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: APPL1-related condition | ClinVar Annotator: match by term: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 14	PMID:25741868|PMID:28492532
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:10534	stomach cancer		ISO	RGD:1607055	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:1115	sarcoma		ISO	RGD:1607055	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:1324	lung cancer		ISO	RGD:1607055	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:1909	melanoma		ISO	RGD:1607055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1607055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:3275	thymoma		ISO	RGD:1607055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:4362	cervical cancer		ISO	RGD:1607055	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1607055	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607055	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1607055	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309388	Appl1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1607055	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: monogenic diabetes	PMID:25741868|PMID:28492532|PMID:31264968
1309389	Ssh2	slingshot protein phosphatase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309389	Ssh2	slingshot protein phosphatase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309389	Ssh2	slingshot protein phosphatase 2	gene	DOID:1324	lung cancer		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309389	Ssh2	slingshot protein phosphatase 2	gene	DOID:1909	melanoma		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309389	Ssh2	slingshot protein phosphatase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309389	Ssh2	slingshot protein phosphatase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309389	Ssh2	slingshot protein phosphatase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319710	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309389	Ssh2	slingshot protein phosphatase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309389	Ssh2	slingshot protein phosphatase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309390	Dgcr6	DiGeorge syndrome critical region gene 6	gene	DOID:1115	sarcoma		ISO	RGD:1319711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309390	Dgcr6	DiGeorge syndrome critical region gene 6	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1319711	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1309390	Dgcr6	DiGeorge syndrome critical region gene 6	gene	DOID:4362	cervical cancer		ISO	RGD:1319711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309390	Dgcr6	DiGeorge syndrome critical region gene 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319711	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309390	Dgcr6	DiGeorge syndrome critical region gene 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309390	Dgcr6	DiGeorge syndrome critical region gene 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309393	Ccdc97	coiled-coil domain containing 97	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309393	Ccdc97	coiled-coil domain containing 97	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309393	Ccdc97	coiled-coil domain containing 97	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309394	Cmtr2	cap methyltransferase 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1601859	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1309394	Cmtr2	cap methyltransferase 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1601859	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1309394	Cmtr2	cap methyltransferase 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1601859	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
1309395	Polr2i	RNA polymerase II subunit I	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309395	Polr2i	RNA polymerase II subunit I	gene	DOID:1324	lung cancer		ISO	RGD:1319717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309395	Polr2i	RNA polymerase II subunit I	gene	DOID:1909	melanoma		ISO	RGD:1319717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309395	Polr2i	RNA polymerase II subunit I	gene	DOID:5041	esophageal cancer		ISO	RGD:1319717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309395	Polr2i	RNA polymerase II subunit I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309395	Polr2i	RNA polymerase II subunit I	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309395	Polr2i	RNA polymerase II subunit I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309395	Polr2i	RNA polymerase II subunit I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309396	Tbx20	T-box transcription factor 20	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1319719	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1309396	Tbx20	T-box transcription factor 20	gene	DOID:0080333	aortic valve disease 1		ISO	RGD:1319719	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Aortic valve disease 1	PMID:15901664|PMID:19762328|PMID:25625280|PMID:25741868|PMID:26118961|PMID:27510170|PMID:27642787|PMID:28492532|PMID:28553164|PMID:30820038
1309396	Tbx20	T-box transcription factor 20	gene	DOID:0110109	atrial heart septal defect 4		ISO	RGD:1319719	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309396	Tbx20	T-box transcription factor 20	gene	DOID:0110109	atrial heart septal defect 4		ISO	RGD:1319719	D	RGD:7240710	20130425	OMIM			
1309396	Tbx20	T-box transcription factor 20	gene	DOID:0110109	atrial heart septal defect 4		ISO	RGD:1319719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ATRIAL SEPTAL DEFECT 4 | ClinVar Annotator: match by term: Atrial septal defect 4 | ClinVar Annotator: match by term: TBX20-related condition | ClinVar Annotator: match by term: TBX20-related disorder	PMID:17668378|PMID:19074289|PMID:19762328|PMID:25741868|PMID:28492532|PMID:29089047|PMID:29517769|PMID:34328347|PMID:36178741
1309396	Tbx20	T-box transcription factor 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1309396	Tbx20	T-box transcription factor 20	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17576681|PMID:19762328|PMID:25741868|PMID:27642787|PMID:28492532|PMID:29089047|PMID:31333075|PMID:31568572|PMID:9536098
1309396	Tbx20	T-box transcription factor 20	gene	DOID:12930	dilated cardiomyopathy		ISS	RGD:1319720	D	RGD:13592920	20180518	MouseDO			
1309396	Tbx20	T-box transcription factor 20	gene	DOID:1657	ventricular septal defect		ISO	RGD:1319719	D	RGD:155882594|PMID:30084275	20230131	RGD		DNA:hypomethylation:promoter	
1309396	Tbx20	T-box transcription factor 20	gene	DOID:1682	congenital heart disease		ISO	RGD:1319719	D	RGD:155882587|PMID:27572266	20230131	RGD		mRNA,protein:decreased expression:heart (human)	
1309396	Tbx20	T-box transcription factor 20	gene	DOID:1682	congenital heart disease	susceptibility	ISO	RGD:1319719	D	RGD:155882589|PMID:27034249	20230131	RGD		DNA:SNP,haplotype:promoter:	
1309396	Tbx20	T-box transcription factor 20	gene	DOID:1682	congenital heart disease	susceptibility	ISO	RGD:1319719	D	RGD:155882596|PMID:25487630	20230131	RGD		DNA:SNPs:exon5: c.657A>C (rs3999941)	
1309396	Tbx20	T-box transcription factor 20	gene	DOID:1882	atrial heart septal defect	susceptibility	ISO	RGD:1319719	D	RGD:155882600|PMID:26675025	20230131	RGD		DNA:SNPs, haplotype: (rs17675131, rs4720169) (human)	
1309396	Tbx20	T-box transcription factor 20	gene	DOID:1909	melanoma		ISO	RGD:1319719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309396	Tbx20	T-box transcription factor 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309396	Tbx20	T-box transcription factor 20	gene	DOID:6000	congestive heart failure		ISO	RGD:1319719	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
1309396	Tbx20	T-box transcription factor 20	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1319719	D	RGD:155882584|PMID:31138201	20230131	RGD		DNA:hypomethylation:promoter	
1309396	Tbx20	T-box transcription factor 20	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1319719	D	RGD:155882585|PMID:18275040	20230131	RGD		mRNA:increased expression:heart (human)	
1309396	Tbx20	T-box transcription factor 20	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1319719	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
1309396	Tbx20	T-box transcription factor 20	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1319719	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
1309396	Tbx20	T-box transcription factor 20	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:1319719	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
1309396	Tbx20	T-box transcription factor 20	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1319719	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:0080124	mitochondrial DNA depletion syndrome 5		ISO	RGD:1319721	D	RGD:7240710	20130221	OMIM			
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:0080124	mitochondrial DNA depletion syndrome 5		ISO	RGD:1319721	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | ClinVar Annotator: match by term: SUCLA2-related condition	PMID:15877282|PMID:17301081|PMID:20843780|PMID:24033266|PMID:24659738|PMID:25741868|PMID:26467025|PMID:26475597|PMID:27651038|PMID:27913098|PMID:28492532|PMID:33231368
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:0080124	mitochondrial DNA depletion syndrome 5		ISS	RGD:1319722	D	RGD:13592920	20230718	MouseDO		OMIM:612073	
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:10907	microcephaly		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:32404165|PMID:38759022
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy	PMID:25741868
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:1909	melanoma		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:552	pneumonia		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1319721	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:26475597|PMID:27651038|PMID:28492532|PMID:33231368
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:7998	hyperthyroidism		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:28492532
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9003507	Premature Birth		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:15877282|PMID:16199547|PMID:17301081|PMID:28492532
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9008023	Memory Disorders		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:32404165|PMID:38759022
1309397	Sucla2	succinate-CoA ligase ADP-forming subunit beta	gene	DOID:9970	obesity		ISO	RGD:1319721	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
1309398	Klf1	KLF transcription factor 1	gene	DOID:0051002	congenital dyserythropoietic anemia type IVb		ISO	RGD:1319723	D	RGD:7240710	20241225	OMIM			
1309398	Klf1	KLF transcription factor 1	gene	DOID:0051002	congenital dyserythropoietic anemia type IVb		ISO	RGD:1319723	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVb | ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IVb | ClinVar Annotator: match by term: CDA, TYPE IVb	PMID:18487511|PMID:21778342|PMID:24443441|PMID:25724378|PMID:25741868|PMID:28492532|PMID:31645145|PMID:34227100
1309398	Klf1	KLF transcription factor 1	gene	DOID:0090016	chromosome 5q deletion syndrome		ISO	RGD:1319723	D	RGD:10769343|PMID:22965552	20160210	RGD		mRNA:decreased expression:bone marrow, blood	
1309398	Klf1	KLF transcription factor 1	gene	DOID:0111400	congenital dyserythropoietic anemia type IVa		ISO	RGD:1319723	D	RGD:7240710	20191009	OMIM			
1309398	Klf1	KLF transcription factor 1	gene	DOID:0111400	congenital dyserythropoietic anemia type IVa		ISO	RGD:1319723	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL, WITH HEREDITARY PERSISTENCE OF FETAL AND EMBRYONIC HEMOGLOBIN | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4 | ClinVar Annotator: match by term: KLF1-related condition	PMID:18487511|PMID:21055716|PMID:21778342|PMID:23522491|PMID:24443441|PMID:25724378|PMID:25741868|PMID:25976964|PMID:27013732|PMID:28102861|PMID:28492532|PMID:29200155|PMID:29300242|PMID:29396846|PMID:34227100|PMID:36798023
1309398	Klf1	KLF transcription factor 1	gene	DOID:12241	beta thalassemia		ISS	RGD:1319724	D	RGD:13592920	20180518	MouseDO		OMIM:187550 | OMIM:603902 | OMIM:613985	
1309398	Klf1	KLF transcription factor 1	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1319724	D	RGD:10769342|PMID:20691777	20160210	RGD		DNA:missense mutation:exon:p.E339D (1065A>T) (human)	
1309398	Klf1	KLF transcription factor 1	gene	DOID:12971	hereditary spherocytosis		ISS	RGD:1319724	D	RGD:13592920	20180518	MouseDO			
1309398	Klf1	KLF transcription factor 1	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1319723	D	RGD:11554173	20191015	CTD		CTD Direct Evidence: marker/mechanism	
1309398	Klf1	KLF transcription factor 1	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1319723	D	RGD:10769343|PMID:22965552	20160210	RGD		mRNA:decreased expression:bone marrow, blood	
1309398	Klf1	KLF transcription factor 1	gene	DOID:583	hemolytic anemia		ISO	RGD:1319723	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:21055716|PMID:21778342|PMID:23522491|PMID:25741868|PMID:25976964|PMID:27013732|PMID:28102861|PMID:28492532|PMID:29200155|PMID:29300242|PMID:29396846|PMID:36798023
1309398	Klf1	KLF transcription factor 1	gene	DOID:630	genetic disease		ISO	RGD:1319723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309398	Klf1	KLF transcription factor 1	gene	DOID:74	hematopoietic system disease		ISO	RGD:1319723	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20676099
1309398	Klf1	KLF transcription factor 1	gene	DOID:9005515	Therapy-related Acute Myeloid Leukemia		ISO	RGD:1319723	D	RGD:10769345|PMID:12417757	20160211	RGD			
1309398	Klf1	KLF transcription factor 1	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1319723	D	RGD:10769344|PMID:19097174	20160210	RGD			
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319725	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:21572417|PMID:28191889
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:1059	intellectual disability		ISO	RGD:1319725	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28492532|PMID:33639934
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:1324	lung cancer		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:1826	epilepsy		ISO	RGD:1319725	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:28492532
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:1826	epilepsy		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:1909	melanoma		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:3275	thymoma		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319725	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:630	genetic disease		ISO	RGD:1319725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21572413|PMID:25741868|PMID:26802095|PMID:28191889|PMID:28492532|PMID:32321736
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:9003313	Occipital Cortical Malformations		ISO	RGD:1319725	D	RGD:7240710	20140911	OMIM			
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:9003313	Occipital Cortical Malformations		ISO	RGD:1319725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CORTICAL MALFORMATIONS, OCCIPITAL | ClinVar Annotator: match by term: Cortical malformations, occipital | ClinVar Annotator: match by term: LAMC3-related condition | ClinVar Annotator: match by term: Occipital pachygyria and polymicrogyria	PMID:16199547|PMID:21572413|PMID:23160955|PMID:25326635|PMID:25741868|PMID:26802095|PMID:28492532|PMID:32902107|PMID:33639934|PMID:35620139|PMID:36413997
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1319725	D	RGD:11554173	20161213	CTD		CTD Direct Evidence: marker/mechanism	PMID:27749845
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:9008539	Perinatal Death		ISO	RGD:1319725	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neonatal death	PMID:25741868|PMID:28492532|PMID:33639934
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309399	Lamc3	laminin subunit gamma 3	gene	DOID:936	brain disease		ISO	RGD:1319725	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21572413
1309400	Ift20	intraflagellar transport 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309400	Ift20	intraflagellar transport 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309400	Ift20	intraflagellar transport 20	gene	DOID:1324	lung cancer		ISO	RGD:1605017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309400	Ift20	intraflagellar transport 20	gene	DOID:4362	cervical cancer		ISO	RGD:1605017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309400	Ift20	intraflagellar transport 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309400	Ift20	intraflagellar transport 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309400	Ift20	intraflagellar transport 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309400	Ift20	intraflagellar transport 20	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309402	Rpl34	ribosomal protein L34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309402	Rpl34	ribosomal protein L34	gene	DOID:10534	stomach cancer		ISO	RGD:1319729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309402	Rpl34	ribosomal protein L34	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309402	Rpl34	ribosomal protein L34	gene	DOID:5041	esophageal cancer		ISO	RGD:1319729	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309402	Rpl34	ribosomal protein L34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309402	Rpl34	ribosomal protein L34	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309403	Proser1	proline and serine rich 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309403	Proser1	proline and serine rich 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309403	Proser1	proline and serine rich 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309403	Proser1	proline and serine rich 1	gene	DOID:1324	lung cancer		ISO	RGD:1319730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309403	Proser1	proline and serine rich 1	gene	DOID:3275	thymoma		ISO	RGD:1319730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309403	Proser1	proline and serine rich 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309403	Proser1	proline and serine rich 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309403	Proser1	proline and serine rich 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309403	Proser1	proline and serine rich 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319730	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309403	Proser1	proline and serine rich 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309403	Proser1	proline and serine rich 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309403	Proser1	proline and serine rich 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309403	Proser1	proline and serine rich 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309403	Proser1	proline and serine rich 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309404	Gpr35	G protein-coupled receptor 35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319732	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309404	Gpr35	G protein-coupled receptor 35	gene	DOID:10534	stomach cancer		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309404	Gpr35	G protein-coupled receptor 35	gene	DOID:1115	sarcoma		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309404	Gpr35	G protein-coupled receptor 35	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309404	Gpr35	G protein-coupled receptor 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309404	Gpr35	G protein-coupled receptor 35	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309404	Gpr35	G protein-coupled receptor 35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309404	Gpr35	G protein-coupled receptor 35	gene	DOID:9256	colorectal cancer		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309405	Fbxo5	F-box protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309405	Fbxo5	F-box protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1319734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309405	Fbxo5	F-box protein 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309405	Fbxo5	F-box protein 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309405	Fbxo5	F-box protein 5	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309405	Fbxo5	F-box protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309405	Fbxo5	F-box protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1319736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY | ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:14729820|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31589614|PMID:33097395|PMID:9536098
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:0080855	Parkinsonism		IEP		D	RGD:13824972|PMID:20403401	20181109	RGD			
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1319736	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:0112081	nuclear type mitochondrial complex I deficiency 8		ISO	RGD:1319736	D	RGD:7240710	20190315	OMIM			
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:0112081	nuclear type mitochondrial complex I deficiency 8		ISO	RGD:1319736	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 8 | ClinVar Annotator: match by term: NDUFS3-related condition	PMID:14729820|PMID:17576681|PMID:22499348|PMID:25741868|PMID:28492532|PMID:30140060|PMID:33097395|PMID:38703036|PMID:9536098
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:10534	stomach cancer		ISO	RGD:1319736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:1319736	D	RGD:13824970|PMID:28242297	20181109	RGD			
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:3652	Leigh disease		ISO	RGD:1319736	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14729820
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:3652	Leigh disease		ISO	RGD:1319736	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:5723	optic atrophy		ISO	RGD:1319736	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14729820
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:630	genetic disease		ISO	RGD:1319736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:9002165	Diabetic Nephropathies		IEP		D	RGD:8552684|PMID:22903132	20181109	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:kidney,glomerulus	
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:9002165	Diabetic Nephropathies	treatment	IEP		D	RGD:13792578|PMID:22591908	20181109	RGD		associated with Diabetes Mellitus, Experimental	
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:9003936	Cardiomegaly		IEP		D	RGD:7800726|PMID:24388463	20181109	RGD			
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:13824971|PMID:22387129	20181109	RGD		mRNA, protein:decreased expression:brain	
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:6484699|PMID:20876714	20120702	RGD		protein:decreased expression:dorsal root ganglia (rat)	
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1319736	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1309406	Ndufs3	NADH:ubiquinone oxidoreductase core subunit S3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319736	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
1309407	Ing4	inhibitor of growth family, member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309407	Ing4	inhibitor of growth family, member 4	gene	DOID:10283	prostate cancer		ISO	RGD:1319738	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309407	Ing4	inhibitor of growth family, member 4	gene	DOID:10283	prostate cancer		ISO	RGD:1319738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309407	Ing4	inhibitor of growth family, member 4	gene	DOID:1115	sarcoma		ISO	RGD:1319738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309407	Ing4	inhibitor of growth family, member 4	gene	DOID:1324	lung cancer		ISO	RGD:1319738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309407	Ing4	inhibitor of growth family, member 4	gene	DOID:1909	melanoma		ISO	RGD:1319738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309407	Ing4	inhibitor of growth family, member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309407	Ing4	inhibitor of growth family, member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1319738	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309407	Ing4	inhibitor of growth family, member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309407	Ing4	inhibitor of growth family, member 4	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1319738	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: therapeutic	PMID:27806345
1309407	Ing4	inhibitor of growth family, member 4	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319738	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: therapeutic	PMID:27806345
1309407	Ing4	inhibitor of growth family, member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309407	Ing4	inhibitor of growth family, member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309408	Mss51	MSS51 mitochondrial translational activator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309408	Mss51	MSS51 mitochondrial translational activator	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309408	Mss51	MSS51 mitochondrial translational activator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309409	Irgq	immunity-related GTPase Q	gene	DOID:10283	prostate cancer		ISO	RGD:1606733	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309409	Irgq	immunity-related GTPase Q	gene	DOID:10283	prostate cancer		ISO	RGD:1606733	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309409	Irgq	immunity-related GTPase Q	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309409	Irgq	immunity-related GTPase Q	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309410	Smco4	single-pass membrane protein with coiled-coil domains 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309410	Smco4	single-pass membrane protein with coiled-coil domains 4	gene	DOID:3275	thymoma		ISO	RGD:1601987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309410	Smco4	single-pass membrane protein with coiled-coil domains 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309410	Smco4	single-pass membrane protein with coiled-coil domains 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309410	Smco4	single-pass membrane protein with coiled-coil domains 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1601987	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309410	Smco4	single-pass membrane protein with coiled-coil domains 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309410	Smco4	single-pass membrane protein with coiled-coil domains 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319743	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:28492532
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:0080946	retinal dystrophy with leukodystrophy		ISO	RGD:1319743	D	RGD:7240710	20200819	OMIM			
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:0080946	retinal dystrophy with leukodystrophy		ISO	RGD:1319743	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACBD5-related condition | ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH LEUKODYSTROPHY | ClinVar Annotator: match by term: Retinal dystrophy with leukodystrophy	PMID:25741868|PMID:28492532
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:0080946	retinal dystrophy with leukodystrophy		ISS	RGD:1319744	D	RGD:13592920	20260312	MouseDO		OMIM:618863	
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:3070	high grade glioma		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:5679	retinal disease		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:630	genetic disease		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319743	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:9000343	Vision Disorders		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:23105016|PMID:25741868|PMID:27799409|PMID:28492532|PMID:33427402
1309411	Acbd5	acyl-CoA binding domain containing 5	gene	DOID:936	brain disease		ISO	RGD:1319743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:23105016|PMID:25741868|PMID:27799409|PMID:28492532|PMID:33427402
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:0050821	first-degree atrioventricular block		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: First degree atrioventricular block	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:0060260	ptosis		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:10907	microcephaly		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:1115	sarcoma		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:11162	respiratory failure		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:11396	pulmonary edema		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary edema	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:11714	gestational diabetes		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:118	pericardial effusion		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pericardial effusion	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:11914	gastroparesis		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroparesis	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:13250	diarrhea		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:1681	heart septal defect	susceptibility	ISO	RGD:1319745	D	RGD:1600967|PMID:12632326	20070402	RGD		Atrioventricular septal defect;DNA:missense mutations	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1319745	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:25741868
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:1824	status epilepticus		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:1826	epilepsy		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319745	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:540	strabismus		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:630	genetic disease		ISO	RGD:1319745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1319745	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868|PMID:28492532
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9001355	Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome		ISO	RGD:1319745	D	RGD:11554173	20180130	CTD		CTD Direct Evidence: marker/mechanism	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9001355	Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome		ISO	RGD:1319745	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME	PMID:28492532
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9001443	Hypercapnia		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercapnia	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9001581	Constipation		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9002809	Congenital Heart Defects, Multiple Types, 4		ISO	RGD:1319745	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9003132	Sialorrhea		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9003629	Jeffries-Lakhani Neurodevelopmental Syndrome		ISO	RGD:1319745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Jeffries-Lakhani neurodevelopmental syndrome	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9003629	Jeffries-Lakhani Neurodevelopmental Syndrome	susceptibility	ISO	RGD:1319745	D	RGD:7240710	20260812	OMIM			
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9003959	Ventricular Septal Defect 1		ISO	RGD:1319745	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect 1	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9005883	Pleural Effusion		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleural effusion	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9006924	Cardiogenic Shock		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiogenic shock	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1319745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9009051	Atrioventricular Septal Defect 2		ISO	RGD:1319745	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition	PMID:16199547|PMID:17576681|PMID:25741868|PMID:27652284|PMID:28492532|PMID:37947183|PMID:9536098
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9009051	Atrioventricular Septal Defect 2	susceptibility	ISO	RGD:1319745	D	RGD:7240710	20260812	OMIM			
1309412	Creld1	CRELD disulfide isomerase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309413	Nup205	nucleoporin 205	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309413	Nup205	nucleoporin 205	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309413	Nup205	nucleoporin 205	gene	DOID:0060058	lymphoma		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868
1309413	Nup205	nucleoporin 205	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1319746	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26878725
1309413	Nup205	nucleoporin 205	gene	DOID:0080381	nephrotic syndrome type 13		ISO	RGD:1319746	D	RGD:7240710	20190315	OMIM			
1309413	Nup205	nucleoporin 205	gene	DOID:0080381	nephrotic syndrome type 13		ISO	RGD:1319746	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NUP205-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 13	PMID:25741868|PMID:28106320|PMID:28492532
1309413	Nup205	nucleoporin 205	gene	DOID:10534	stomach cancer		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1309413	Nup205	nucleoporin 205	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309413	Nup205	nucleoporin 205	gene	DOID:1115	sarcoma		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1309413	Nup205	nucleoporin 205	gene	DOID:1324	lung cancer		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309413	Nup205	nucleoporin 205	gene	DOID:1909	melanoma		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1309413	Nup205	nucleoporin 205	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
1309413	Nup205	nucleoporin 205	gene	DOID:2394	ovarian cancer		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1309413	Nup205	nucleoporin 205	gene	DOID:3070	high grade glioma		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309413	Nup205	nucleoporin 205	gene	DOID:3275	thymoma		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1309413	Nup205	nucleoporin 205	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309413	Nup205	nucleoporin 205	gene	DOID:4362	cervical cancer		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1309413	Nup205	nucleoporin 205	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1309413	Nup205	nucleoporin 205	gene	DOID:5041	esophageal cancer		ISO	RGD:1319746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1309413	Nup205	nucleoporin 205	gene	DOID:5408	Paget disease of bone		ISO	RGD:1319746	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21623375
1309413	Nup205	nucleoporin 205	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309413	Nup205	nucleoporin 205	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1309413	Nup205	nucleoporin 205	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1309413	Nup205	nucleoporin 205	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1309413	Nup205	nucleoporin 205	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1319746	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1309413	Nup205	nucleoporin 205	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309413	Nup205	nucleoporin 205	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1309413	Nup205	nucleoporin 205	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:25741868|PMID:28492532
1309414	Zswim8	zinc finger, SWIM-type containing 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309414	Zswim8	zinc finger, SWIM-type containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309414	Zswim8	zinc finger, SWIM-type containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1344378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309414	Zswim8	zinc finger, SWIM-type containing 8	gene	DOID:1115	sarcoma		ISO	RGD:1344378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309414	Zswim8	zinc finger, SWIM-type containing 8	gene	DOID:1909	melanoma		ISO	RGD:1344378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309414	Zswim8	zinc finger, SWIM-type containing 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309414	Zswim8	zinc finger, SWIM-type containing 8	gene	DOID:3070	high grade glioma		ISO	RGD:1344378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309414	Zswim8	zinc finger, SWIM-type containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1344378	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309414	Zswim8	zinc finger, SWIM-type containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309414	Zswim8	zinc finger, SWIM-type containing 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309414	Zswim8	zinc finger, SWIM-type containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309414	Zswim8	zinc finger, SWIM-type containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309414	Zswim8	zinc finger, SWIM-type containing 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:0090063	familial cold autoinflammatory syndrome 2		ISO	RGD:1319748	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:0090063	familial cold autoinflammatory syndrome 2		ISO	RGD:1319748	D	RGD:7240710	20130425	OMIM			
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:0090063	familial cold autoinflammatory syndrome 2		ISO	RGD:1319748	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 | ClinVar Annotator: match by term: NLRP12-related condition | ClinVar Annotator: match by term: familial cold autoinflammatory syndrome 2	PMID:16199547|PMID:17576681|PMID:18230725|PMID:24033266|PMID:24064030|PMID:24953660|PMID:25064839|PMID:25640679|PMID:25741868|PMID:27314497|PMID:27633793|PMID:28492532|PMID:29500522|PMID:29951964|PMID:30788684|PMID:30858956|PMID:31155445|PMID:31820221|PMID:32725138|PMID:32868390|PMID:32888943|PMID:33042144|PMID:33165748|PMID:33879512|PMID:34298581|PMID:34535969|PMID:34725261|PMID:34867986|PMID:34975878|PMID:35482138|PMID:35639375|PMID:35852776|PMID:36703223|PMID:37140617|PMID:37396539|PMID:37443800|PMID:37877365|PMID:37928541|PMID:38123482|PMID:38177227|PMID:38343435|PMID:40556386|PMID:9536098
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:10534	stomach cancer		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:1115	sarcoma		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:11830	myopia		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:1324	lung cancer		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:1596	depressive disorder		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:1826	epilepsy		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:2841	asthma		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1319748	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:16199547|PMID:17576681|PMID:18230725|PMID:21360512|PMID:21538323|PMID:24033266|PMID:24064030|PMID:25741868|PMID:27314497|PMID:27633793|PMID:28492532|PMID:29500522|PMID:30788684|PMID:31820221|PMID:9536098
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1319748	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition	PMID:16199547|PMID:17576681|PMID:18230725|PMID:21360512|PMID:21538323|PMID:24033266|PMID:24064030|PMID:25741868|PMID:27314497|PMID:27633793|PMID:28492532|PMID:29500522|PMID:30783801|PMID:30788684|PMID:30858956|PMID:31820221|PMID:34975878|PMID:9536098
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1319748	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:24033266|PMID:25741868|PMID:28492532|PMID:29500522
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:3275	thymoma		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1319748	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:630	genetic disease		ISO	RGD:1319748	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:7998	hyperthyroidism		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute otitis media	PMID:25741868|PMID:28492532
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:9001733	Tinnitus		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:28492532
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1319748	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570|PMID:28492532
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:9007736	Vertigo		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:9008464	Cryopyrin-Associated Periodic Syndromes		ISO	RGD:1319748	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Familial cold urticaria	PMID:25741868|PMID:28492532|PMID:33879512|PMID:35639375
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309415	Nlrp12	NLR family, pyrin domain containing 12	gene	DOID:9970	obesity		ISO	RGD:1319748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0080094	myofibrillar myopathy 3		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction	PMID:25741868|PMID:28492532|PMID:31665838
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0110822	hereditary spastic paraplegia 77		ISO	RGD:1342814	D	RGD:7240710	20190315	OMIM			
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0110822	hereditary spastic paraplegia 77		ISO	RGD:1342814	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive	PMID:25741868|PMID:25851414|PMID:26553276|PMID:28492532|PMID:29126765|PMID:30177229|PMID:31665838|PMID:33168986|PMID:33972171
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111477	combined oxidative phosphorylation deficiency 14		ISO	RGD:1342814	D	RGD:7240710	20140903	OMIM			
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111477	combined oxidative phosphorylation deficiency 14		ISO	RGD:1342814	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 | ClinVar Annotator: match by term: FARS2-related condition	PMID:22499341|PMID:22833457|PMID:24161539|PMID:25741868|PMID:25851414|PMID:27095821|PMID:27549011|PMID:27652284|PMID:28043061|PMID:28419689|PMID:28492532|PMID:29691679|PMID:30177229|PMID:30250868|PMID:32597768|PMID:33168986|PMID:33972171|PMID:37523899
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:1059	intellectual disability		ISO	RGD:1342814	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:31665838
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:327	syringomyelia		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syringomyelia	PMID:25741868|PMID:28492532|PMID:31665838
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:3652	Leigh disease		ISO	RGD:1342814	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:22833457|PMID:25741868|PMID:28492532|PMID:36531778
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:5419	schizophrenia		ISO	RGD:1342814	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:607	paraplegia		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paraplegia	PMID:25741868|PMID:28492532|PMID:31665838
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1342814	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22833457|PMID:28492532
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003703	Coxa Valga		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868|PMID:28492532|PMID:31665838
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004484	Sepsis		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sepsis	PMID:25741868|PMID:28492532|PMID:31665838
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:28492532
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:31665838
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9471	meningitis		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningitis	PMID:25741868|PMID:28492532|PMID:31665838
1309416	Fars2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9993	hypoglycemia		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
1309417	Tmem87a	transmembrane protein 87A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309417	Tmem87a	transmembrane protein 87A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309417	Tmem87a	transmembrane protein 87A	gene	DOID:10534	stomach cancer		ISO	RGD:1603672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309417	Tmem87a	transmembrane protein 87A	gene	DOID:1909	melanoma		ISO	RGD:1603672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309417	Tmem87a	transmembrane protein 87A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309417	Tmem87a	transmembrane protein 87A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:1115	sarcoma		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:1324	lung cancer		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:1909	melanoma		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1319753	D	RGD:9588265|PMID:24482232	20141023	RGD		human gene in a mouse model	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1319753	D	RGD:9588263|PMID:24200691	20141023	RGD		mRNA:increased expression:stomach (human)	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1319753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:6000	congestive heart failure		ISO	RGD:1616561	D	RGD:9588275|PMID:25181347	20141023	RGD		protein:altered localization:promoter (mouse)	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:6039	uveal melanoma		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: KDM2A-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:38060137|PMID:41468891
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319753	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319753	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309419	Kdm2a	lysine demethylase 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309423	Stx16	syntaxin 16	gene	DOID:0080222	pseudohypoparathyroidism type 1B		ISO	RGD:1319758	D	RGD:7240710	20170531	OMIM			
1309423	Stx16	syntaxin 16	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:1319758	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:0050855	renal fibrosis		IMP		D	RGD:9587793|PMID:22326221	20171101	RGD			
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:0050855	renal fibrosis	ameliorates	IMP	XCO:0000795	D	RGD:9587793|PMID:22326221	20230928	RGD		compared to wild-type littermates	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:0070191	autosomal recessive chronic granulomatous disease 2		ISO	RGD:1319760	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:0070191	autosomal recessive chronic granulomatous disease 2		ISO	RGD:1319760	D	RGD:7240710	20130221	OMIM			
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:0070191	autosomal recessive chronic granulomatous disease 2		ISO	RGD:1319760	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic granulomatous disease due to deficiency of NCF-2 | ClinVar Annotator: match by term: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	PMID:10455184|PMID:10498624|PMID:10598813|PMID:11262407|PMID:11499676|PMID:16199547|PMID:17576681|PMID:18625437|PMID:19624736|PMID:19683193|PMID:19953534|PMID:20167518|PMID:21190454|PMID:21900546|PMID:23264412|PMID:24033266|PMID:24931457|PMID:25640679|PMID:25741868|PMID:25937994|PMID:26272171|PMID:28492532|PMID:28750028|PMID:29073922|PMID:29454792|PMID:30290665|PMID:30470980|PMID:30716179|PMID:32040803|PMID:32081864|PMID:32281309|PMID:32506361|PMID:32666379|PMID:33629196|PMID:33717137|PMID:33746979|PMID:34134972|PMID:35366317|PMID:35728702|PMID:35874679|PMID:8879195|PMID:9536098
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319760	D	RGD:2314452|PMID:10873554	20091116	RGD		protein:altered localization	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:10763	hypertension		IEP		D	RGD:2314430|PMID:19307699	20091113	RGD		protein:increased expression:heart left ventricle	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1319760	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:1824	status epilepticus		IDA		D	RGD:2314448|PMID:15606902	20091116	RGD		associated with Experimental Seizures;protein:altered localization	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:1909	melanoma		ISO	RGD:1319760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:3265	chronic granulomatous disease		ISO	RGD:1319760	D	RGD:1624401|PMID:2393022	20070510	RGD			
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:3265	chronic granulomatous disease		ISO	RGD:1319760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive chronic granulomatous disease | ClinVar Annotator: match by term: Chronic granulomatous disease	PMID:10498624|PMID:20167518|PMID:25741868|PMID:28035544|PMID:28492532
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:576	proteinuria		IMP		D	RGD:9587793|PMID:22326221	20171101	RGD			
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:576	proteinuria	ameliorates	IMP	XCO:0000795	D	RGD:9587793|PMID:22326221	20230928	RGD		compared to wild-type littermates	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:630	genetic disease		ISO	RGD:1319760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319760	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12833524
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319760	D	RGD:41404710|PMID:17897462	20210204	RGD		DNA:polymorphism, SNP:cds (rs789181) (human)	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:2314450|PMID:14644473	20091116	RGD		protein:increased expression:spinal cord	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:8925847	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:mucosa of middle ear	PMID:26711468|REF_RGD_ID:11553828
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		IDA		D	RGD:2314451|PMID:14514646	20091116	RGD		protein:altered localization:glomerulus	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:2314434|PMID:18061195	20091113	RGD		protein:increased expression:heart, membrane fraction	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:9007730	Burns		IEP		D	RGD:2314453|PMID:9329126	20091116	RGD		protein:increased expression:neutrophil	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309424	Ncf2	neutrophil cytosolic factor 2	gene	DOID:9970	obesity		IEP		D	RGD:2314435|PMID:17515452	20091113	RGD		protein:increased expression:artery	
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:0050567	orofacial cleft		ISO	RGD:1298223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868|PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:0070301	multiple epiphyseal dysplasia 6		ISO	RGD:1298223	D	RGD:7240710	20140911	OMIM			
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:0070301	multiple epiphyseal dysplasia 6		ISO	RGD:1298223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COL9A1-related condition | ClinVar Annotator: match by term: COL9A1-related disorder | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 6	PMID:11308397|PMID:11565064|PMID:16199547|PMID:16909383|PMID:17576681|PMID:21421862|PMID:24036952|PMID:25741868|PMID:26467025|PMID:27353947|PMID:28492532|PMID:30311386|PMID:33973556|PMID:9536098
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:0080046	Stickler syndrome		ISO	RGD:1298223	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Stickler syndrome	PMID:25741868|PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1298223	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16909383
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1298223	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1298223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:1059	intellectual disability		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:10907	microcephaly		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:1298223	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16909383
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1298223	D	RGD:617154591|PMID:27936202	20250708	RGD		mRNA:increased expression:heart left ventricle	
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:14323	Marfan syndrome		ISO	RGD:1298223	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:25741868|PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:1596	depressive disorder		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:1682	congenital heart disease		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:1712	aortic valve stenosis		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:1826	epilepsy		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:2030	anxiety disorder		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1298223	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11565064|PMID:16909383
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:2256	osteochondrodysplasia	susceptibility	ISO	RGD:1298223	D	RGD:1600949|PMID:11565064	20070402	RGD		DNA:mutation	
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:2841	asthma		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:3087	gingivitis		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1298223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:5679	retinal disease		ISO	RGD:1298223	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16909383
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:5723	optic atrophy		ISO	RGD:1298223	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1298223	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:16909383|PMID:21421862|PMID:25741868|PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:65	connective tissue disease		ISO	RGD:1298223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:11308397|PMID:17576681|PMID:24036952|PMID:25741868|PMID:26467025|PMID:27353947|PMID:28492532|PMID:30311386|PMID:33973556|PMID:9536098
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:824	periodontitis		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:25741868|PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:8398	osteoarthritis		ISS	RGD:1319762	D	RGD:13592920	20180518	MouseDO		OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401	
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:8501	fundus dystrophy		ISO	RGD:1298223	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:9001539	Stickler Syndrome, Type IV		ISO	RGD:1298223	D	RGD:7240710	20140903	OMIM			
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:9001539	Stickler Syndrome, Type IV		ISO	RGD:1298223	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: STICKLER SYNDROME, TYPE IV | ClinVar Annotator: match by term: Stickler syndrome, type 4	PMID:11565064|PMID:16909383|PMID:17576681|PMID:21421862|PMID:23967202|PMID:24036952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:9536098
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1298223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:9004097	Marfanoid Hypermobility Syndrome		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Marfan syndrome type 1	PMID:25741868|PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1298223	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:24036952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:9007661	Dwarfism		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:9008023	Memory Disorders		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:9834	hyperopia		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1309425	Col9a1	collagen type IX alpha 1 chain	gene	DOID:9970	obesity		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1309426	Dsc2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1319763	D	RGD:243065273|PMID:24086444	20230417	RGD		protein:decreased expression:heart right ventricle (human)	
1309426	Dsc2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:1245073|PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:205460|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:23147450|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24793512|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26264440|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30371277|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30830208|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32665702|PMID:32746448|PMID:32826072|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33652588|PMID:33684294|PMID:33784018|PMID:34135346|PMID:34316868|PMID:34400560|PMID:34426522|PMID:35276540|PMID:35297182|PMID:35470680|PMID:35703482|PMID:35819174|PMID:35877578|PMID:36178741|PMID:36293497|PMID:37273868|PMID:37418234|PMID:37477868|PMID:37589201|PMID:7971964|PMID:9536098
1309426	Dsc2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:1245073|PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:205460|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:23147450|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24793512|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26264440|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30371277|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30830208|PMID:30847666|PMID:31019283|PMID:31024045|PMID:31333075|PMID:31376648|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34012068|PMID:34135346|PMID:34316868|PMID:34400560|PMID:34426522|PMID:34621001|PMID:35276540|PMID:35297182|PMID:35470680|PMID:35653365|PMID:35703482|PMID:35819174|PMID:35877578|PMID:36178741|PMID:36293497|PMID:37273868|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37728764|PMID:38398418|PMID:7971964|PMID:9536098
1309426	Dsc2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:1245073|PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:205460|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:23147450|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24793512|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26264440|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30371277|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30830208|PMID:30847666|PMID:31019283|PMID:31024045|PMID:31333075|PMID:31376648|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34012068|PMID:34135346|PMID:34316868|PMID:34400560|PMID:34426522|PMID:34621001|PMID:35276540|PMID:35297182|PMID:35470680|PMID:35653365|PMID:35703482|PMID:35819174|PMID:35877578|PMID:36178741|PMID:36293497|PMID:37273868|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37728764|PMID:37937776|PMID:38398418|PMID:38689299|PMID:7971964|PMID:9536098
1309426	Dsc2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:23071725|PMID:23147450|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24793512|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25445213|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:28818065|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29255176|PMID:29590070|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30371277|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30830208|PMID:30847666|PMID:31019283|PMID:31024045|PMID:31319917|PMID:31333075|PMID:31376648|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33232181|PMID:33500567|PMID:33652588|PMID:33662488|PMID:33673806|PMID:33684294|PMID:33784018|PMID:33919104|PMID:34012068|PMID:34135346|PMID:34316868|PMID:34317382|PMID:34400560|PMID:34426522|PMID:34621001|PMID:35276540|PMID:35297182|PMID:35300203|PMID:35470680|PMID:35653365|PMID:35703482|PMID:35819174|PMID:35877578|PMID:36138163|PMID:36178741|PMID:36293497|PMID:36768812|PMID:37198425|PMID:37273868|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37728764|PMID:37937776|PMID:38398418|PMID:38689299|PMID:7971964|PMID:9536098
1309426	Dsc2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: familial isolated arrhythmogenic right ventricular dysplasia	PMID:16199547|PMID:17186466|PMID:17363426|PMID:17576681|PMID:18678517|PMID:19863551|PMID:20400443|PMID:20646679|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24704780|PMID:24793512|PMID:24832006|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25820315|PMID:25825460|PMID:26220970|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28492532|PMID:28798025|PMID:29255176|PMID:29802319|PMID:30122538|PMID:30665703|PMID:30790397|PMID:30847666|PMID:31019283|PMID:31024045|PMID:31319917|PMID:31386562|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33684294|PMID:34012068|PMID:34135346|PMID:34426522|PMID:34621001|PMID:35653365|PMID:35819174|PMID:35947370|PMID:36138163|PMID:36178741|PMID:36293497|PMID:36768812|PMID:37198425|PMID:37328711|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37728764|PMID:37937776|PMID:38398418|PMID:38689299|PMID:40008663|PMID:9536098
1309426	Dsc2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1319764	D	RGD:243065269|PMID:27834139	20230417	RGD		protein:decreased expression:myocardium of ventricle (mouse)	
1309426	Dsc2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1319764	D	RGD:265253172|PMID:27412010	20230418	RGD		protein:decreased expression:cardiac ventricle (mouse)	
1309426	Dsc2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	susceptibility	ISO	RGD:1319763	D	RGD:243065272|PMID:25497880	20230417	RGD		DNA:SNP:exon 11: c.1660C>T, p.Gln554X (human)	
1309426	Dsc2	desmocollin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23757202|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:26138720|PMID:26220970|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28166811|PMID:28255936|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:29032884|PMID:29367541|PMID:29641836|PMID:29802319|PMID:30790397|PMID:30847666|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31970460|PMID:31983221|PMID:32665702|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33684294|PMID:34135346|PMID:7971964|PMID:9536098
1309426	Dsc2	desmocollin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:1245073|PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:205460|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23347029|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26264440|PMID:26272908|PMID:26310507|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:28818065|PMID:29032884|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30847666|PMID:31333075|PMID:31376648|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32665702|PMID:32746448|PMID:32826072|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34135346|PMID:34393635|PMID:34426522|PMID:35087879|PMID:35276540|PMID:35297182|PMID:35470680|PMID:35703482|PMID:35819174|PMID:35877578|PMID:36178741|PMID:36293497|PMID:37273868|PMID:37418234|PMID:37477868|PMID:7971964|PMID:9536098
1309426	Dsc2	desmocollin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:1245073|PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:205460|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21270786|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21716271|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23347029|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23698643|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24585727|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25974703|PMID:26138720|PMID:26220970|PMID:26264440|PMID:26272908|PMID:26310507|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27884173|PMID:27930701|PMID:27981572|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:28818065|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30371277|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30830208|PMID:30847666|PMID:31333075|PMID:31376648|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32665702|PMID:32746448|PMID:32826072|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34135346|PMID:34393635|PMID:34400560|PMID:34426522|PMID:34621001|PMID:35087879|PMID:35276540|PMID:35297182|PMID:35470680|PMID:35653365|PMID:35703482|PMID:35819174|PMID:35877578|PMID:36178741|PMID:36293497|PMID:36672924|PMID:37273868|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37937776|PMID:38398418|PMID:38689299|PMID:7971964|PMID:9536098
1309426	Dsc2	desmocollin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:16199547|PMID:17186466|PMID:17363426|PMID:17576681|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20857253|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:23299917|PMID:23347029|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24503780|PMID:24585727|PMID:24704780|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25525159|PMID:25576714|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25820315|PMID:25825460|PMID:26220970|PMID:26272908|PMID:26310507|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28153106|PMID:28416588|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29038103|PMID:29178656|PMID:29192238|PMID:29255176|PMID:29367541|PMID:29802319|PMID:30122538|PMID:30471092|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30847666|PMID:31019283|PMID:31319917|PMID:31376648|PMID:31386562|PMID:31402444|PMID:31484862|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31931689|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33662488|PMID:33684294|PMID:33954932|PMID:34012068|PMID:34088380|PMID:34135346|PMID:34621001|PMID:34935411|PMID:35653365|PMID:35877578|PMID:35947370|PMID:36138163|PMID:36178741|PMID:36293497|PMID:36672924|PMID:37198425|PMID:37273868|PMID:37328711|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37728764|PMID:37937776|PMID:38398418|PMID:38689299|PMID:40008663|PMID:9536098
1309426	Dsc2	desmocollin 2	gene	DOID:0060319	cardiac arrest		ISO	RGD:1319763	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrest | ClinVar Annotator: match by term: cardiac arrest	PMID:18678517|PMID:23861362|PMID:24033266|PMID:24704780|PMID:25637381|PMID:25741868|PMID:27153395|PMID:28288337|PMID:28492532|PMID:29750433|PMID:30830208
1309426	Dsc2	desmocollin 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:17033975|PMID:20031616|PMID:20031617|PMID:20197793|PMID:20400443|PMID:20716751|PMID:20829228|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21859740|PMID:23299917|PMID:23757202|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24967631|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:28255936|PMID:28492532|PMID:7971964
1309426	Dsc2	desmocollin 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868
1309426	Dsc2	desmocollin 2	gene	DOID:0080718	GNE myopathy		ISO	RGD:1319763	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing	PMID:25741868|PMID:28492532
1309426	Dsc2	desmocollin 2	gene	DOID:0110070	arrhythmogenic right ventricular dysplasia 1		ISO	RGD:1319763	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1	PMID:19863551|PMID:23299917|PMID:25163546|PMID:25637381|PMID:25741868|PMID:28492532
1309426	Dsc2	desmocollin 2	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:1319763	D	RGD:8554872	20170711	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9	
1309426	Dsc2	desmocollin 2	gene	DOID:0110082	arrhythmogenic right ventricular dysplasia 11		ISO	RGD:1319763	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309426	Dsc2	desmocollin 2	gene	DOID:0110082	arrhythmogenic right ventricular dysplasia 11		ISO	RGD:1319763	D	RGD:7240710	20130221	OMIM			
1309426	Dsc2	desmocollin 2	gene	DOID:0110082	arrhythmogenic right ventricular dysplasia 11		ISO	RGD:1319763	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair	PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21220045|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22458570|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23863954|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25497880|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28069705|PMID:28153106|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:30122538|PMID:30790397|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31931689|PMID:31970460|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32746448|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33258288|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34135346|PMID:35276540|PMID:7971964|PMID:9536098
1309426	Dsc2	desmocollin 2	gene	DOID:0110082	arrhythmogenic right ventricular dysplasia 11		ISO	RGD:1319763	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11	PMID:16199547|PMID:17186466|PMID:17363426|PMID:17576681|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20152563|PMID:20400443|PMID:20646679|PMID:20716751|PMID:21062920|PMID:21220045|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25497880|PMID:25525159|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25820315|PMID:25825460|PMID:26220970|PMID:26272908|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28153106|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28600387|PMID:28798025|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29802319|PMID:30122538|PMID:30665703|PMID:30790397|PMID:30847666|PMID:31019283|PMID:31319917|PMID:31386562|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31931689|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33232181|PMID:33258288|PMID:33500567|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34012068|PMID:34135346|PMID:34393635|PMID:34500006|PMID:34621001|PMID:35653365|PMID:35819174|PMID:35947370|PMID:36138163|PMID:36178741|PMID:36293497|PMID:37198425|PMID:37328711|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37728764|PMID:37937776|PMID:38254962|PMID:38398418|PMID:38689299|PMID:40008663|PMID:40123482|PMID:41652012|PMID:9536098
1309426	Dsc2	desmocollin 2	gene	DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J		ISO	RGD:1319763	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J	PMID:18678517|PMID:23861362|PMID:24033266|PMID:24704780|PMID:25637381|PMID:25741868|PMID:27153395|PMID:27854218|PMID:28492532
1309426	Dsc2	desmocollin 2	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	PMID:16199547|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28153106|PMID:28492532|PMID:31638835|PMID:31931689|PMID:33662488
1309426	Dsc2	desmocollin 2	gene	DOID:0110454	dilated cardiomyopathy 1S		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1S	PMID:25741868|PMID:28492532|PMID:29253866
1309426	Dsc2	desmocollin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309426	Dsc2	desmocollin 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:20400443|PMID:24033266|PMID:25741868|PMID:26498160|PMID:27930701|PMID:28492532|PMID:29255176|PMID:30790397|PMID:31970460|PMID:36178741
1309426	Dsc2	desmocollin 2	gene	DOID:12930	dilated cardiomyopathy		IEP		D	RGD:264347602|PMID:26708424	20230418	RGD		protein:increased expression:heart (rat)	
1309426	Dsc2	desmocollin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20191112	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
1309426	Dsc2	desmocollin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:20400443|PMID:23514727|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28471438|PMID:28492532|PMID:29178656|PMID:33784018
1309426	Dsc2	desmocollin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28153106|PMID:28492532|PMID:31638835|PMID:31931689|PMID:33662488
1309426	Dsc2	desmocollin 2	gene	DOID:1324	lung cancer		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309426	Dsc2	desmocollin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309426	Dsc2	desmocollin 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1319763	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1309426	Dsc2	desmocollin 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1319763	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:23861362|PMID:24832006|PMID:25741868|PMID:28492532|PMID:30371277|PMID:31397097|PMID:32268277
1309426	Dsc2	desmocollin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309426	Dsc2	desmocollin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309426	Dsc2	desmocollin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309426	Dsc2	desmocollin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309426	Dsc2	desmocollin 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1309426	Dsc2	desmocollin 2	gene	DOID:9003936	Cardiomegaly		IEP		D	RGD:264347602|PMID:26708424	20230418	RGD		protein:increased expression:heart (rat)	
1309426	Dsc2	desmocollin 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1319763	D	RGD:8554872	20181009	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	
1309426	Dsc2	desmocollin 2	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:25741868|PMID:27532257|PMID:28492532|PMID:29802319|PMID:31402444|PMID:37589201
1309426	Dsc2	desmocollin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309426	Dsc2	desmocollin 2	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:25741868|PMID:27532257|PMID:28492532|PMID:29802319|PMID:31402444|PMID:37589201
1309426	Dsc2	desmocollin 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1319763	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1309426	Dsc2	desmocollin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1309426	Dsc2	desmocollin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309426	Dsc2	desmocollin 2	gene	DOID:9408	acute myocardial infarction	ameliorates	IEP		D	RGD:267358468|PMID:32068187	20230418	RGD			
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:0050453	lissencephaly		ISO	RGD:1602407	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pachygyria | ClinVar Annotator: match by term: lissencephaly	PMID:23001566|PMID:25741868|PMID:28492532|PMID:28677066|PMID:29671837
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:0060249	scoliosis		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:23001566|PMID:26732629|PMID:28013290|PMID:28835377
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:0070297	primary microcephaly		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:22591407|PMID:25741868|PMID:9628483
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:30585108
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:0080918	polymicrogyria		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:30585108
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1602407	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19465910
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:25741868
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:0090132	complex cortical dysplasia with other brain malformations 7		ISO	RGD:1602407	D	RGD:7240710	20130221	OMIM			
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:0090132	complex cortical dysplasia with other brain malformations 7		ISO	RGD:1602407	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 | ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 7 | ClinVar Annotator: match by term: Polymicrogyria, symmetric or asymmetric | ClinVar Annotator: match by term: TUBB2B-related condition	PMID:18414213|PMID:19465910|PMID:22333901|PMID:22591407|PMID:23001566|PMID:23361065|PMID:23424103|PMID:24860126|PMID:25140959|PMID:25741868|PMID:26467025|PMID:26732629|PMID:28492532|PMID:30585108|PMID:30704335|PMID:31481326|PMID:31727855|PMID:33776625|PMID:34592644|PMID:35088901|PMID:35726512|PMID:36413997|PMID:8196646|PMID:9628483
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:0090132	complex cortical dysplasia with other brain malformations 7		ISS	RGD:1319765	D	RGD:13592920	20230718	MouseDO		OMIM:610031	
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:0090137	complex cortical dysplasia with other brain malformations 1		ISO	RGD:1602407	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 1	PMID:25741868
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:0112227	tubulinopathy		ISO	RGD:1602407	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Tubulinopathy	PMID:28492532
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:0112232	lissencephaly 3		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tubulinopathies	PMID:28492532
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:10907	microcephaly		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:18414213|PMID:23361065|PMID:24860126|PMID:25741868|PMID:28492532|PMID:33776625|PMID:36413997
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:10908	hydrocephalus		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:11782	astigmatism		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:18414213|PMID:23361065|PMID:24860126|PMID:25741868|PMID:28492532|PMID:33776625|PMID:36413997
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:12397	entropion		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Entropion	PMID:25741868
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:1432	blindness		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:22591407|PMID:25741868|PMID:9628483
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:1826	epilepsy		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:18414213|PMID:22591407|PMID:23361065|PMID:24860126|PMID:25741868|PMID:28492532|PMID:33776625|PMID:36413997|PMID:9628483
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:1827	generalized epilepsy		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:1969	cerebral palsy		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:18414213|PMID:23361065|PMID:24860126|PMID:25741868|PMID:28492532|PMID:33776625|PMID:36413997
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:2234	focal epilepsy		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:305	carcinoma		ISO	RGD:1602407	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:630	genetic disease		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22591407|PMID:23424103|PMID:25741868|PMID:31727855|PMID:8196646|PMID:9628483
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1602407	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:9000660	Choristoma		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectopic tissue	PMID:22591407|PMID:25741868|PMID:9628483
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	PMID:22591407|PMID:25741868|PMID:9628483
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:22591407|PMID:25741868|PMID:9628483
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1602407	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:9005616	Micrognathism		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:22591407|PMID:25741868|PMID:9628483
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:9007661	Dwarfism		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18414213|PMID:22591407|PMID:23361065|PMID:24860126|PMID:25741868|PMID:28492532|PMID:33776625|PMID:36413997|PMID:9628483
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1309427	Tubb2b	tubulin, beta 2B class IIb	gene	DOID:9406	hypopituitarism		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypopituitarism	PMID:18414213|PMID:23361065|PMID:24860126|PMID:25741868|PMID:28492532|PMID:33776625|PMID:36413997
1309428	Slc35d3	solute carrier family 35, member D3	gene	DOID:4362	cervical cancer		ISO	RGD:1319766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309428	Slc35d3	solute carrier family 35, member D3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309431	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309431	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319770	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309431	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:0080600	COVID-19		ISO	RGD:1319770	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309431	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:1115	sarcoma		ISO	RGD:1319770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309431	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:1324	lung cancer		ISO	RGD:1319770	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309431	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1319770	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868
1309431	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309431	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319770	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309431	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309431	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309431	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309431	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1319770	D	RGD:8554872	20180213	ClinVar		ClinVar Annotator: match by term: Progressive spastic paraparesis	PMID:28891236
1309431	Adgrb2	adhesion G protein-coupled receptor B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309432	Mrps14	mitochondrial ribosomal protein S14	gene	DOID:0111466	combined oxidative phosphorylation deficiency 38		ISO	RGD:1319772	D	RGD:7240710	20190911	OMIM			
1309432	Mrps14	mitochondrial ribosomal protein S14	gene	DOID:0111466	combined oxidative phosphorylation deficiency 38		ISO	RGD:1319772	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 38 | ClinVar Annotator: match by term: MRPS14-related condition	PMID:25741868|PMID:28492532|PMID:30358850
1309432	Mrps14	mitochondrial ribosomal protein S14	gene	DOID:1115	sarcoma		ISO	RGD:1319772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309432	Mrps14	mitochondrial ribosomal protein S14	gene	DOID:1324	lung cancer		ISO	RGD:1319772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309432	Mrps14	mitochondrial ribosomal protein S14	gene	DOID:3275	thymoma		ISO	RGD:1319772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319774	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:0110786	hereditary spastic paraplegia 35		ISO	RGD:1319774	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 35	PMID:16783378|PMID:20301718|PMID:21735565|PMID:23176821|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:0110808	hereditary spastic paraplegia 56		ISO	RGD:1319774	D	RGD:7240710	20140911	OMIM			
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:0110808	hereditary spastic paraplegia 56		ISO	RGD:1319774	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYP2U1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM	PMID:14660610|PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:28600779|PMID:29034544|PMID:33107650|PMID:36166872|PMID:36879630
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:1059	intellectual disability		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:10965	spastic diplegia		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:13250	diarrhea		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:607	paraplegia		ISO	RGD:1319774	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28120039|PMID:28492532|PMID:29034544|PMID:29761117|PMID:33107650
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:630	genetic disease		ISO	RGD:1319774	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319774	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1319774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
1309433	Cyp2u1	cytochrome P450, family 2, subfamily u, polypeptide 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319774	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650
1309435	Nhp2	NHP2 ribonucleoprotein	gene	DOID:0070017	autosomal recessive dyskeratosis congenita 2		ISO	RGD:1319777	D	RGD:7240710	20150304	OMIM			
1309435	Nhp2	NHP2 ribonucleoprotein	gene	DOID:0070017	autosomal recessive dyskeratosis congenita 2		ISO	RGD:1319777	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 | ClinVar Annotator: match by term: NHP2-related condition	PMID:25741868|PMID:28492532|PMID:36933847
1309435	Nhp2	NHP2 ribonucleoprotein	gene	DOID:1115	sarcoma		ISO	RGD:1319777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309435	Nhp2	NHP2 ribonucleoprotein	gene	DOID:1324	lung cancer		ISO	RGD:1319777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309435	Nhp2	NHP2 ribonucleoprotein	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1319777	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31985013|PMID:36933847|PMID:9536098
1309435	Nhp2	NHP2 ribonucleoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309435	Nhp2	NHP2 ribonucleoprotein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309435	Nhp2	NHP2 ribonucleoprotein	gene	DOID:9004373	Autosomal Recessive Dyskeratosis Congenita		ISO	RGD:1319777	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	
1309436	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1319779	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF	PMID:28492532
1309436	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1319779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532
1309436	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:0112083	nuclear type mitochondrial complex I deficiency 2		ISO	RGD:1319779	D	RGD:7240710	20190315	OMIM			
1309436	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:0112083	nuclear type mitochondrial complex I deficiency 2		ISO	RGD:1319779	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 2 | ClinVar Annotator: match by term: NDUFS8-related condition	PMID:15159508|PMID:20818383|PMID:23430795|PMID:25741868|PMID:28492532|PMID:32235386|PMID:32445240|PMID:34052969|PMID:38703036
1309436	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309436	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:3652	Leigh disease		ISO	RGD:1319779	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy	PMID:25326637|PMID:25741868|PMID:28492532
1309436	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:4362	cervical cancer		ISO	RGD:1319779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309436	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309436	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:630	genetic disease		ISO	RGD:1319779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309436	Ndufs8	NADH:ubiquinone oxidoreductase core subunit S8	gene	DOID:8398	osteoarthritis		ISO	RGD:1319779	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1309437	Cmss1	cms1 ribosomal small subunit homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309437	Cmss1	cms1 ribosomal small subunit homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309437	Cmss1	cms1 ribosomal small subunit homolog	gene	DOID:1324	lung cancer		ISO	RGD:1601841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309437	Cmss1	cms1 ribosomal small subunit homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309437	Cmss1	cms1 ribosomal small subunit homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1601841	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309437	Cmss1	cms1 ribosomal small subunit homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309437	Cmss1	cms1 ribosomal small subunit homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:0050589	inflammatory bowel disease		ISS	RGD:1319783	D	RGD:13592920	20260319	MouseDO			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:34687574
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:0051061	stroke	treatment	ISO	RGD:1319783	D	RGD:155791452|PMID:33434616	20221219	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:0060058	lymphoma		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:0060305	megalocornea		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megalocornea	PMID:25741868
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:0080087	nonsyndromic congenital nail disorder 9		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nail dysplasia	PMID:25741868|PMID:34687574
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:0111785	frontometaphyseal dysplasia		ISO	RGD:1319782	D	RGD:11552867|PMID:27426733	20221115	RGD		DNA:missense mutations: :multiple (human)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:0111785	frontometaphyseal dysplasia		ISO	RGD:1319782	D	RGD:11554173	20190326	CTD		CTD Direct Evidence: marker/mechanism	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:0111787	frontometaphyseal dysplasia 2		ISO	RGD:1319782	D	RGD:7240710	20190315	OMIM			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:0111787	frontometaphyseal dysplasia 2		ISO	RGD:1319782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2	PMID:25741868|PMID:27426733|PMID:27426734|PMID:28492532|PMID:35730652
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:10283	prostate cancer		ISO	RGD:1319782	D	RGD:2298803|PMID:17785553	20080725	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:10907	microcephaly		ISO	RGD:1319782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27426733|PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:1115	sarcoma		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:11383	cryptorchidism		ISO	RGD:1319782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:27426733|PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:11520	benign hypertensive renal disease		ISO	RGD:1319782	D	RGD:155791449|PMID:34584221	20221219	RGD		protein:increased expression:cortex of kidney (human)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1319782	D	RGD:155646134|PMID:27249171	20221230	RGD		protein:increased phosphorylation:heart (human)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:11984	hypertrophic cardiomyopathy	treatment	ISO	RGD:1319783	D	RGD:155646134|PMID:27249171	20221108	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:1319782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	PMID:25741868|PMID:27426733|PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319782	D	RGD:155646134|PMID:27249171	20221230	RGD		protein:increased phosphorylation:heart (human)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:1319782	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:1909	melanoma		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:224	transient cerebral ischemia	ameliorates	ISO	RGD:1319783	D	RGD:155791642|PMID:32078472	20221230	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:224	transient cerebral ischemia	ameliorates	ISO	RGD:1319783	D	RGD:155804272|PMID:32382778	20230112	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:224	transient cerebral ischemia	ameliorates	ISO	RGD:1319783	D	RGD:155804283|PMID:34628598	20230114	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:224	transient cerebral ischemia	ameliorates	ISO	RGD:1319783	D	RGD:155804284|PMID:32349637	20230114	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:2316	brain ischemia	treatment	ISO	RGD:1319783	D	RGD:155882442|PMID:21475303	20230117	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:2349	arteriosclerosis	ameliorates	IMP		D	RGD:155804282|PMID:35078016	20230114	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1319783	D	RGD:155663371|PMID:34331613	20221114	RGD		mRNA, protein:increased expression:lung (mouse)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:3275	thymoma		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:3393	coronary artery disease		ISO	RGD:1319782	D	RGD:155791451|PMID:32495070	20221219	RGD		associated with hypothyroidism;mRNA:decreased expression:venous blood (human)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1319782	D	RGD:11554173	20240206	CTD		CTD Direct Evidence: marker/mechanism	PMID:34686948
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:384	Wolff-Parkinson-White syndrome		ISS	RGD:1319783	D	RGD:13592920	20240425	MouseDO		OMIM:194200	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:4724	brain edema		ISO	RGD:1319783	D	RGD:11074637|PMID:26347470	20230116	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:5844	myocardial infarction		IEP		D	RGD:2298758|PMID:16183734	20230103	RGD		mRNA, protein:increased expression:myocardium (rat)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:5844	myocardial infarction	treatment	IEP		D	RGD:11073666|PMID:27121011	20230202	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:6000	congestive heart failure		ISO	RGD:1319783	D	RGD:11534146|PMID:25278099	20221219	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:6000	congestive heart failure		ISO	RGD:1319783	D	RGD:155804285|PMID:10802712	20230114	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:1319783	D	RGD:155791673|PMID:26706286	20230104	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:630	genetic disease		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1319782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868|PMID:27426733|PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:784	chronic kidney disease		IEP		D	RGD:155804294|PMID:32581266	20230116	RGD		protein:increased expression:aorta (rat)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	IEP		D	RGD:155804269|PMID:29273596	20230112	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9000890	cardiospondylocarpofacial syndrome		ISO	RGD:1319782	D	RGD:11552967|PMID:27426734	20221219	RGD		DNA:missense mutations, deletions:CDS:multiple (human)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9000890	cardiospondylocarpofacial syndrome		ISO	RGD:1319782	D	RGD:7240710	20190315	OMIM			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9000890	cardiospondylocarpofacial syndrome		ISO	RGD:1319782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIOSPONDYLOCARPOFACIAL SYNDROME | ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome | ClinVar Annotator: match by term: MAP3K7-related condition | ClinVar Annotator: match by term: MAP3K7-related disorder	PMID:20186786|PMID:25741868|PMID:27426733|PMID:27426734|PMID:28492532|PMID:34687574
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9000998	Brain Injuries	treatment	IEP		D	RGD:155791672|PMID:27000704	20230104	RGD		associated with Subarachnoid Hemorrhage	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9000998	Brain Injuries	treatment	IMP		D	RGD:155804286|PMID:26100626	20230114	RGD		associated with Subarachnoid Hemorrhage	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:1319783	D	RGD:155882440|PMID:33414375	20230117	RGD		associated with Subarachnoid Hemorrhage	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9001031	Retrognathia		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:34687574
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9001820	Pulmonary Arterial Hypertension	treatment	IEP		D	RGD:155804297|PMID:35582418	20230116	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1319783	D	RGD:155804280|PMID:30076625	20230113	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9002159	Liver Reperfusion Injury	exacerbates	ISO	RGD:1319783	D	RGD:155882441|PMID:30622220	20230117	RGD		protein:increased phosphorylation:liver (mouse)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1319782	D	RGD:8554872	20211214	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:25741868
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9002220	Forney Robinson Pascoe Syndrome		ISO	RGD:1319782	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319782	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9002304	Prostatic Neoplasms	no_association	ISO	RGD:1319782	D	RGD:2298805|PMID:12967473	20080725	RGD		based one the lack of correlation to loss of heterozygosity (LOH) in humans	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9003133	Hypertelorism		ISO	RGD:1319782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:27426733|PMID:28492532|PMID:34687574
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:1319783	D	RGD:155804300|PMID:29143862	20230116	RGD		associated with obesity;protein:increased phosphorylation:heart (mouse)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9003139	Cardiac Fibrosis	treatment	IEP		D	RGD:155791675|PMID:32543140	20230104	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9003676	Brain Hypoxia-Ischemia		IEP		D	RGD:155804275|PMID:32734729	20230112	RGD		protein:increased expression:brain (rat)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9003936	Cardiomegaly		IEP		D	RGD:155791647|PMID:30854566	20230103	RGD		mRNA:increased expression:wall of left ventricle (rat)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1319783	D	RGD:155791643|PMID:32971071	20230102	RGD		protein:increased phosphorylation:heart (mouse)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1319783	D	RGD:155791649|PMID:27956576	20230103	RGD		protein:increased phosphorylation:heart (mouse)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1319783	D	RGD:155791668|PMID:35490166	20230104	RGD		protein:increased phosphorylation:heart (mouse)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9003936	Cardiomegaly	ameliorates	ISO	RGD:1319783	D	RGD:155791650|PMID:30407523	20230103	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9003936	Cardiomegaly	treatment	IEP		D	RGD:155804266|PMID:28821620	20230112	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1319783	D	RGD:11555743|PMID:26891723	20230104	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1319783	D	RGD:155791644|PMID:31885808	20230102	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1319783	D	RGD:155791674|PMID:34733837	20230104	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:27426733|PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9004994	Embryo Loss		ISO	RGD:1319783	D	RGD:155663421|PMID:22972987	20221116	RGD			
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9005616	Micrognathism		ISO	RGD:1319782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:27426733|PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9006945	Diabetic Cardiomyopathies		IEP		D	RGD:155883162|PMID:22146585	20230202	RGD		associated with type 2 diabetes mellitus;protein:decreased expression:myocardium of ventricle (rat)	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9007346	Cachexia	treatment	IMP		D	RGD:155791671|PMID:30554141	20230104	RGD		associated with Pulmonary Arterial Hypertension	
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27426733|PMID:28492532
1309438	Map3k7	mitogen activated protein kinase kinase kinase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1309439	Klhdc7a	kelch domain containing 7A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606164	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1309441	Lsm12	LSM12 homolog	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309441	Lsm12	LSM12 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309441	Lsm12	LSM12 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:0080016	spina bifida		ISO	RGD:1319787	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21404367
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:0080074	neural tube defect		ISO	RGD:1319787	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:2373757
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:0080074	neural tube defect		ISO	RGD:1319787	D	RGD:7240710	20230505	OMIM			
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:0080074	neural tube defect		ISO	RGD:1319787	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to | ClinVar Annotator: match by term: VANGL2-related condition	PMID:25741868|PMID:28492532
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:0080074	neural tube defect		ISS	RGD:1319788	D	RGD:13592920	20230718	MouseDO		OMIM:301410 | OMIM:601634	
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1319787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319787	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:630	genetic disease		ISO	RGD:1319787	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1319787	D	RGD:2298799|PMID:12011999	20080724	RGD			
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309442	Vangl2	VANGL planar cell polarity protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:10534	stomach cancer		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:1115	sarcoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:1324	lung cancer		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:1909	melanoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:2394	ovarian cancer		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:3275	thymoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:4362	cervical cancer		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1603690	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309443	Vps8	VPS8 subunit of CORVET complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309444	Bicd1	BICD cargo adaptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309444	Bicd1	BICD cargo adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309444	Bicd1	BICD cargo adaptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309444	Bicd1	BICD cargo adaptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1319790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309444	Bicd1	BICD cargo adaptor 1	gene	DOID:1909	melanoma		ISO	RGD:1319790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309444	Bicd1	BICD cargo adaptor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309444	Bicd1	BICD cargo adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309444	Bicd1	BICD cargo adaptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309444	Bicd1	BICD cargo adaptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309444	Bicd1	BICD cargo adaptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309444	Bicd1	BICD cargo adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319792	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:10413692|PMID:10958763|PMID:11702214|PMID:12192456|PMID:16303926|PMID:17576681|PMID:18285826|PMID:18854780|PMID:19074458|PMID:24033266|PMID:24265693|PMID:25741868|PMID:26872967|PMID:28118664|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29555955|PMID:29854428|PMID:29925512|PMID:30093795|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:33302505|PMID:33546218|PMID:33706644|PMID:34327195|PMID:34758253|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35836572|PMID:36209838|PMID:36460718|PMID:36471740|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1319792	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:12515255|PMID:25741868
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050535	exudative vitreoretinopathy		ISO	RGD:1319792	D	RGD:11554173	20200211	CTD		CTD Direct Evidence: marker/mechanism	PMID:29207047
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319792	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:10090887|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15192030|PMID:15516930|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25921964|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27535533|PMID:27628848|PMID:27739528|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30718709|PMID:31212395|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31736247|PMID:31814694|PMID:31964843|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32717343|PMID:32783370|PMID:33223529|PMID:33546218|PMID:33841504|PMID:34008892|PMID:34906470|PMID:35886001|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319792	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:10090887|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15192030|PMID:15516930|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24677105|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25921964|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27535533|PMID:27628848|PMID:27739528|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29555955|PMID:29706639|PMID:29847635|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30718709|PMID:31212395|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31736247|PMID:31814694|PMID:31964843|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32717343|PMID:32783370|PMID:33223529|PMID:33546218|PMID:33841504|PMID:34008892|PMID:34906470|PMID:35886001|PMID:35903041|PMID:36909829|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319792	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:10090887|PMID:10413692|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15192030|PMID:15516930|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24677105|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25921964|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27535533|PMID:27628848|PMID:27739528|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29555955|PMID:29706639|PMID:29847635|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30718709|PMID:31212395|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31736247|PMID:31814694|PMID:31964843|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32717343|PMID:32783370|PMID:33223529|PMID:33546218|PMID:33841504|PMID:34008892|PMID:34906470|PMID:35886001|PMID:35903041|PMID:36909829|PMID:38054408|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319792	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:10090887|PMID:10413692|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15192030|PMID:15516930|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24677105|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25921964|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27535533|PMID:27628848|PMID:27739528|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29555955|PMID:29706639|PMID:29847635|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30718709|PMID:31212395|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31736247|PMID:31814694|PMID:31964843|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32653833|PMID:32717343|PMID:32783370|PMID:33223529|PMID:33546218|PMID:33633436|PMID:33841504|PMID:34008892|PMID:34874912|PMID:34906470|PMID:35886001|PMID:35903041|PMID:36471740|PMID:36909829|PMID:38054408|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319792	D	RGD:8554872	20240813	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:10090887|PMID:10413692|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15192030|PMID:15516930|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:21330655|PMID:21911583|PMID:22229821|PMID:22264887|PMID:22427542|PMID:22661472|PMID:22735453|PMID:22968130|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24677105|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25312043|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25698705|PMID:25741868|PMID:26103963|PMID:26247787|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27628848|PMID:27739528|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28224992|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29555955|PMID:29706639|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30563929|PMID:30718709|PMID:31212395|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31736247|PMID:31814694|PMID:31964843|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32653833|PMID:32717343|PMID:32783370|PMID:33546218|PMID:33633436|PMID:33841504|PMID:34874912|PMID:34906470|PMID:35886001|PMID:35903041|PMID:36471740|PMID:36909829|PMID:38054408|PMID:9054934|PMID:9295268|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319792	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:10090887|PMID:10413692|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15192030|PMID:15516930|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:21330655|PMID:21911583|PMID:22229821|PMID:22264887|PMID:22427542|PMID:22661472|PMID:22735453|PMID:22968130|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24677105|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25312043|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25698705|PMID:25741868|PMID:26103963|PMID:26247787|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27628848|PMID:27739528|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28224992|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29555955|PMID:29706639|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30563929|PMID:30718709|PMID:31212395|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31618812|PMID:31736247|PMID:31814694|PMID:31964843|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32653833|PMID:32717343|PMID:32783370|PMID:33258285|PMID:33546218|PMID:33633436|PMID:33841504|PMID:34874912|PMID:34906470|PMID:35886001|PMID:35903041|PMID:36471740|PMID:36909829|PMID:38054408|PMID:9054934|PMID:9295268|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319792	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:10090887|PMID:10413692|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15192030|PMID:15516930|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18161617|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20981092|PMID:21330655|PMID:21911583|PMID:22229821|PMID:22264887|PMID:22427542|PMID:22661472|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24677105|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25698705|PMID:25741868|PMID:25910913|PMID:26103963|PMID:26247787|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28157192|PMID:28224992|PMID:28341476|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29068140|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29431110|PMID:29555955|PMID:2964157|PMID:29706639|PMID:29847635|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:3002862|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30204727|PMID:30215852|PMID:30480703|PMID:30480704|PMID:30563929|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:31054281|PMID:31212395|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31589614|PMID:31614660|PMID:31618761|PMID:31618812|PMID:31736247|PMID:31814694|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32244552|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32653833|PMID:32717343|PMID:32783370|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33090715|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33375396|PMID:33546218|PMID:33633436|PMID:33691693|PMID:33706644|PMID:33732702|PMID:33841504|PMID:33846575|PMID:33851411|PMID:34198153|PMID:34240658|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34570182|PMID:34758253|PMID:34795310|PMID:34874912|PMID:34906470|PMID:34946930|PMID:34996991|PMID:35076026|PMID:35119454|PMID:35243166|PMID:35260635|PMID:35409265|PMID:35656873|PMID:35657619|PMID:35753512|PMID:35836572|PMID:35886001|PMID:35903041|PMID:36209838|PMID:36284460|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36471740|PMID:36672815|PMID:36819107|PMID:36909829|PMID:38054408|PMID:9054934|PMID:9295268|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319792	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:10090887|PMID:10413692|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15192030|PMID:15516930|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18161617|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20981092|PMID:21330655|PMID:21911583|PMID:22229821|PMID:22264887|PMID:22427542|PMID:22661472|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24677105|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25698705|PMID:25741868|PMID:25910913|PMID:26103963|PMID:26247787|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28157192|PMID:28224992|PMID:28341476|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29068140|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29431110|PMID:29555955|PMID:2964157|PMID:29706639|PMID:29847635|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:3002862|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30204727|PMID:30215852|PMID:30480703|PMID:30480704|PMID:30563929|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:31054281|PMID:31212395|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31589614|PMID:31614660|PMID:31618761|PMID:31618812|PMID:31736247|PMID:31814694|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32244552|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32653833|PMID:32717343|PMID:32783370|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33090715|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33375396|PMID:33546218|PMID:33633436|PMID:33691693|PMID:33706644|PMID:33732702|PMID:33841504|PMID:33846575|PMID:33851411|PMID:34198153|PMID:34240658|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34570182|PMID:34758253|PMID:34795310|PMID:34874912|PMID:34906470|PMID:34946930|PMID:34996991|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35243166|PMID:35260635|PMID:35409265|PMID:35656873|PMID:35657619|PMID:35753512|PMID:35836572|PMID:35886001|PMID:35903041|PMID:36209838|PMID:36284460|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36471740|PMID:36672815|PMID:36819107|PMID:36909829|PMID:38054408|PMID:9054934|PMID:9295268|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Late-onset cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:10090887|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11385708|PMID:11444963|PMID:11702214|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:15192030|PMID:16103129|PMID:16303926|PMID:16896346|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17982420|PMID:18161617|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19265867|PMID:20029649|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661472|PMID:22661473|PMID:22968130|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24713488|PMID:24938718|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25444351|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25921964|PMID:25922843|PMID:26103963|PMID:26161775|PMID:26247787|PMID:26377081|PMID:26527198|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27535533|PMID:27775217|PMID:27884173|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28571903|PMID:28611652|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29310964|PMID:29431110|PMID:29555955|PMID:29706639|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29854428|PMID:29925512|PMID:3002862|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30204727|PMID:30215852|PMID:30563929|PMID:30576320|PMID:30609409|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30903310|PMID:30924848|PMID:31015497|PMID:31054281|PMID:31212395|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31576780|PMID:31589614|PMID:31725702|PMID:31814694|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32717343|PMID:32783370|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33301772|PMID:33302505|PMID:33546218|PMID:33706644|PMID:33749171|PMID:33841504|PMID:33851411|PMID:33909047|PMID:33988224|PMID:34008892|PMID:34073554|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34570182|PMID:34758253|PMID:34874912|PMID:34906470|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35456422|PMID:35656873|PMID:35657619|PMID:35753512|PMID:35836572|PMID:35886001|PMID:36209838|PMID:36338671|PMID:36460718|PMID:36471740|PMID:36672815|PMID:36819107|PMID:36909829|PMID:37930186|PMID:38219857|PMID:38309476|PMID:38465142|PMID:39043154|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050578	occult macular dystrophy		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Occult macular dystrophy	PMID:10958763|PMID:15614537|PMID:18285826|PMID:19074458|PMID:20696155|PMID:22264887|PMID:22328824|PMID:23443024|PMID:23591405|PMID:23695285|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25525159|PMID:25741868|PMID:26261413|PMID:26872967|PMID:26976702|PMID:27775217|PMID:28041643|PMID:28118664|PMID:28130426|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29162642|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29925512|PMID:30093795|PMID:30204727|PMID:30576320|PMID:30643219|PMID:30718709|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31618761|PMID:31766579|PMID:31964843|PMID:31980526|PMID:32141364|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:33706644|PMID:33749171|PMID:33851411|PMID:34198153|PMID:34570182|PMID:34758253|PMID:35055178|PMID:35076026|PMID:35119454|PMID:35409265|PMID:35476365|PMID:36209838|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36819107|PMID:36909829|PMID:36910710
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050664	Bietti crystalline corneoretinal dystrophy		ISO	RGD:1319792	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy	PMID:10958761|PMID:23755871|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28492532|PMID:29186038|PMID:30718709|PMID:30798147|PMID:33546218|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050795	cone dystrophy		ISO	RGD:1319792	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cone dystrophy	PMID:10958761|PMID:10958763|PMID:11017087|PMID:12037008|PMID:12796258|PMID:16103129|PMID:16896346|PMID:18161617|PMID:18285826|PMID:19074458|PMID:19217903|PMID:20696155|PMID:21786275|PMID:22025579|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661473|PMID:23755871|PMID:23769331|PMID:24033266|PMID:24265693|PMID:24938718|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25312043|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25921964|PMID:25922843|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26780318|PMID:27535533|PMID:27775217|PMID:27884173|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28571903|PMID:28611652|PMID:29114839|PMID:29555955|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29925512|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30609409|PMID:30718709|PMID:30924848|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31589614|PMID:31725702|PMID:31814694|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32307445|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33301772|PMID:33302505|PMID:33546218|PMID:33706644|PMID:33749171|PMID:33909047|PMID:33988224|PMID:34008892|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34758253|PMID:34874912|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35456422|PMID:35836572|PMID:36460718|PMID:36672815|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050817	Stargardt disease		ISO	RGD:1319792	D	RGD:11554173	20200211	CTD		CTD Direct Evidence: marker/mechanism	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050817	Stargardt disease		ISO	RGD:1319792	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease	PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11527935|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17893657|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19365591|PMID:20029649|PMID:20108432|PMID:20128570|PMID:20335603|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23424971|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25326637|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25884411|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26764160|PMID:26766544|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28130426|PMID:28166811|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29641573|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30945053|PMID:31129250|PMID:31144483|PMID:31456290|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31814693|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:32783370|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33301772|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050817	Stargardt disease		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Macular Degeneration, Juvenile | ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease	PMID:10090887|PMID:1017087|PMID:10206579|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12796258|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16546111|PMID:16896346|PMID:17277736|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17893657|PMID:17932850|PMID:17982420|PMID:18024811|PMID:18161617|PMID:18285826|PMID:18334942|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19352439|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20801516|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:22995991|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23882696|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24409374|PMID:24453473|PMID:24509150|PMID:24585425|PMID:24677105|PMID:24713488|PMID:24743636|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:26976702|PMID:26992781|PMID:27014590|PMID:27030965|PMID:27031522|PMID:27032803|PMID:27353947|PMID:27527345|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27884173|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28248825|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28571903|PMID:28611652|PMID:28771251|PMID:28947085|PMID:29068140|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29431110|PMID:29461686|PMID:29555955|PMID:29625472|PMID:29641573|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29975949|PMID:3002862|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30204727|PMID:30215852|PMID:30337596|PMID:30563929|PMID:30576320|PMID:30578500|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30903310|PMID:30924848|PMID:31015497|PMID:31054281|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31397521|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31573552|PMID:31576780|PMID:31589614|PMID:31614660|PMID:31618761|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31766579|PMID:31814693|PMID:31814694|PMID:31816670|PMID:31847883|PMID:31884623|PMID:31934596|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32534057|PMID:32581362|PMID:32619608|PMID:32717343|PMID:32783370|PMID:32810830|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33369172
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050817	Stargardt disease		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Macular Degeneration, Juvenile | ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease	PMID:33375396|PMID:33546218|PMID:33633436|PMID:33691693|PMID:33706644|PMID:33732702|PMID:33749171|PMID:33781268|PMID:33841504|PMID:33851411|PMID:33909047|PMID:33924840|PMID:33988224|PMID:34008801|PMID:34008892|PMID:34073554|PMID:34198153|PMID:34240658|PMID:34313030|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34440443|PMID:34570182|PMID:34647987|PMID:34758253|PMID:34795310|PMID:34874912|PMID:34906470|PMID:34946930|PMID:34996991|PMID:35055178|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35154257|PMID:35194496|PMID:35260635|PMID:35353811|PMID:35409265|PMID:35456422|PMID:35476365|PMID:35608843|PMID:35656873|PMID:35657619|PMID:35672425|PMID:35753512|PMID:35836572|PMID:35886001|PMID:36011402|PMID:36209838|PMID:36284460|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36471740|PMID:36552712|PMID:36672815|PMID:36819107|PMID:36909829|PMID:36910710|PMID:37217489|PMID:37498587|PMID:37510321|PMID:37695977|PMID:37705246|PMID:37774808|PMID:38219857|PMID:38309476|PMID:38465142|PMID:38466963|PMID:39043154|PMID:39162841|PMID:40225145|PMID:40244202|PMID:4097981|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9503029|PMID:9536098|PMID:9666097|PMID:973280|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050817	Stargardt disease		ISS	RGD:1616873	D	RGD:13592920	20230718	MouseDO		OMIM:248200 | OMIM:600110 | OMIM:603786	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319792	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:10090887|PMID:10612508|PMID:10634594|PMID:11017087|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:18285826|PMID:18977788|PMID:20981092|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:28041643|PMID:28044389|PMID:28341476|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29431110|PMID:29555955|PMID:29925512|PMID:3002862|PMID:30215852|PMID:30609409|PMID:30643219|PMID:30670881|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32815999|PMID:32845050|PMID:32913387|PMID:33706644|PMID:34426522|PMID:34570182|PMID:34906470|PMID:35076026|PMID:35119454|PMID:35657619|PMID:35753512|PMID:35886001|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0060243	stuttering		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Stuttering	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0061106	retinitis pigmentosa 91		ISO	RGD:1319792	D	RGD:7829711|PMID:18024811	20140122	RGD		DNA:mutations:multiple:	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0061106	retinitis pigmentosa 91		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bull's eye maculopathy	PMID:10958763|PMID:15614537|PMID:18285826|PMID:19074458|PMID:20696155|PMID:22264887|PMID:22328824|PMID:23443024|PMID:23591405|PMID:23695285|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25525159|PMID:25741868|PMID:26261413|PMID:26872967|PMID:26976702|PMID:27775217|PMID:28041643|PMID:28118664|PMID:28130426|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29162642|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29925512|PMID:30093795|PMID:30204727|PMID:30576320|PMID:30643219|PMID:30718709|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31618761|PMID:31766579|PMID:31964843|PMID:31980526|PMID:32141364|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:33706644|PMID:33749171|PMID:33851411|PMID:34198153|PMID:34570182|PMID:34758253|PMID:35055178|PMID:35076026|PMID:35119454|PMID:35409265|PMID:35476365|PMID:36209838|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36819107|PMID:36909829|PMID:36910710
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0061238	Stargardt disease 3		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Stargardt disease 3	PMID:10090887|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11385708|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:18285826|PMID:18977788|PMID:19265867|PMID:20981092|PMID:21330655|PMID:22264887|PMID:22995991|PMID:23144455|PMID:23419329|PMID:23499370|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24585425|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25525159|PMID:25741868|PMID:26024099|PMID:26161775|PMID:26247787|PMID:26593885|PMID:26780318|PMID:27939946|PMID:2804164|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28224992|PMID:28341476|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29431110|PMID:29555955|PMID:29925512|PMID:3002862|PMID:30060493|PMID:30093795|PMID:30215852|PMID:30609409|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31589614|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33261146|PMID:33546218|PMID:33706644|PMID:33749171|PMID:33851411|PMID:33988224|PMID:34327195|PMID:34426522|PMID:34570182|PMID:34758253|PMID:34906470|PMID:34954332|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35657619|PMID:35753512|PMID:35886001|PMID:36460718|PMID:36672815|PMID:9054934|PMID:9503029|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0061241	Stargardt disease 1		ISO	RGD:1319792	D	RGD:7240710	20130221	OMIM			
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0061241	Stargardt disease 1		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FUNDUS FLAVIMACULATUS | ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: STARGARDT DISEASE 1 | ClinVar Annotator: match by term: Stargardt disease 1	PMID:10090887|PMID:1017087|PMID:10206579|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10874631|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16546111|PMID:16896346|PMID:17277736|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17932850|PMID:17982420|PMID:18024811|PMID:18161617|PMID:18285826|PMID:18334942|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19352439|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:22995991|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23424971|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24409374|PMID:24453473|PMID:24509150|PMID:24585425|PMID:24677105|PMID:24713488|PMID:24743636|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:26976702|PMID:26992781|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27527345|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27884173|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28248825|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28571903|PMID:28611652|PMID:28771251|PMID:28947085|PMID:29068140|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29431110|PMID:29461686|PMID:29555955|PMID:29625472|PMID:29641573|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:3002862|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30204727|PMID:30215852|PMID:30337596|PMID:30563929|PMID:30576320|PMID:30578500|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30903310|PMID:30924848|PMID:31015497|PMID:31054281|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31397521|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31576780|PMID:31589614|PMID:31614660|PMID:31618761|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31766579|PMID:31814693|PMID:31814694|PMID:31816670|PMID:31847883|PMID:31884623|PMID:31934596|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32534057|PMID:32581362|PMID:32619608|PMID:32717343|PMID:32783370|PMID:32810830|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33369172|PMID:33375396|PMID:33546218|PMID:33633436
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0061241	Stargardt disease 1		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FUNDUS FLAVIMACULATUS | ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: STARGARDT DISEASE 1 | ClinVar Annotator: match by term: Stargardt disease 1	PMID:33691693|PMID:33706644|PMID:33732702|PMID:33749171|PMID:33781268|PMID:33841504|PMID:33851411|PMID:33909047|PMID:33924840|PMID:33988224|PMID:34008801|PMID:34008892|PMID:34073554|PMID:34198153|PMID:34240658|PMID:34313030|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34440443|PMID:34570182|PMID:34647987|PMID:34758253|PMID:34795310|PMID:34874912|PMID:34906470|PMID:34946930|PMID:34996991|PMID:35055178|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35353811|PMID:35409265|PMID:35456422|PMID:35476365|PMID:35608843|PMID:35656873|PMID:35657619|PMID:35672425|PMID:35753512|PMID:35836572|PMID:35886001|PMID:36011402|PMID:36209838|PMID:36284460|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36471740|PMID:36552712|PMID:36672815|PMID:36819107|PMID:36909829|PMID:36910710|PMID:37217489|PMID:37498587|PMID:37510321|PMID:37705246|PMID:38219857|PMID:38309476|PMID:38465142|PMID:38466963|PMID:39043154|PMID:39162841|PMID:4097981|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9503029|PMID:9536098|PMID:9666097|PMID:973280|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0061241	Stargardt disease 1		ISO	RGD:1616873	D	RGD:7815046|PMID:18463687	20140121	RGD			
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0061241	Stargardt disease 1	susceptibility	ISO	RGD:1319792	D	RGD:7815045|PMID:22328824	20140121	RGD		DNA:mutations:multiple:	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0061241	Stargardt disease 1	susceptibility	ISO	RGD:1319792	D	RGD:7829716|PMID:24342785	20140122	RGD		DNA:mutation:exon:c.2041C>T(human)	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0061241	Stargardt disease 1	treatment	ISO	RGD:1319792	D	RGD:7815046|PMID:18463687	20140121	RGD			
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0110015	age related macular degeneration 2		ISO	RGD:1319792	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0110015	age related macular degeneration 2		ISO	RGD:1319792	D	RGD:7240710	20130425	OMIM			
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0110015	age related macular degeneration 2		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 2 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2	PMID:10090887|PMID:1017087|PMID:10206579|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12796258|PMID:14517951|PMID:15161829|PMID:15192030|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16546111|PMID:16896346|PMID:17277736|PMID:17576681|PMID:17932850|PMID:17982420|PMID:18161617|PMID:18285826|PMID:18334942|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19352439|PMID:19365591|PMID:20128570|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24409374|PMID:24453473|PMID:24509150|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27527345|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27884173|PMID:27939946|PMID:2804164|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28248825|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28571903|PMID:28611652|PMID:28771251|PMID:28947085|PMID:29068140|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29431110|PMID:29461686|PMID:29555955|PMID:29641573|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29848554|PMID:29854428|PMID:29925512|PMID:3002862|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30204727|PMID:30215852|PMID:30337596|PMID:30563929|PMID:30576320|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30924848|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31576780|PMID:31589614|PMID:31614660|PMID:31618761|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31766579|PMID:31814694|PMID:31816670|PMID:31934596|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32810830|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33090715|PMID:33129279|PMID:33223529|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33369172|PMID:33375396|PMID:33546218|PMID:33691693|PMID:33706644|PMID:33732702|PMID:33749171|PMID:33841504|PMID:33851411|PMID:33909047|PMID:33988224|PMID:34008801|PMID:34008892|PMID:34073554|PMID:34198153|PMID:34240658|PMID:34313030|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34440443|PMID:34570182|PMID:34647987|PMID:34758253|PMID:34795310|PMID:34874912|PMID:34906470|PMID:34946930|PMID:35055178|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35353811
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0110015	age related macular degeneration 2		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 2 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2	PMID:35409265|PMID:35456422|PMID:35476365|PMID:35656873|PMID:35657619|PMID:35672425|PMID:35753512|PMID:35836572|PMID:35886001|PMID:36087940|PMID:36209838|PMID:36284460|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36471740|PMID:36672815|PMID:36819107|PMID:36909829|PMID:36910710|PMID:37217489|PMID:37498587|PMID:37510321|PMID:38219857|PMID:38309476|PMID:38465142|PMID:38466963|PMID:39162841|PMID:39462066|PMID:4097981|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9503029|PMID:9536098|PMID:9666097|PMID:973280|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0110026	age related macular degeneration 14		ISO	RGD:1319792	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF	PMID:10090887|PMID:10612508|PMID:10634594|PMID:11017087|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:18285826|PMID:18977788|PMID:20981092|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:28041643|PMID:28044389|PMID:28341476|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29431110|PMID:29555955|PMID:29925512|PMID:3002862|PMID:30215852|PMID:30609409|PMID:30643219|PMID:30670881|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32815999|PMID:32845050|PMID:32913387|PMID:33706644|PMID:34426522|PMID:34570182|PMID:34906470|PMID:35076026|PMID:35119454|PMID:35657619|PMID:35753512|PMID:35886001|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0110188	Leber congenital amaurosis 14		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 14	PMID:10958761|PMID:16546111|PMID:22589445|PMID:23755871|PMID:24938718|PMID:25312043|PMID:25525159|PMID:25544989|PMID:25741868|PMID:26247787|PMID:26780318|PMID:28492532|PMID:28947085|PMID:29186038|PMID:29641573|PMID:29925512|PMID:30093795|PMID:30718709|PMID:31964843|PMID:32090030|PMID:32307445|PMID:32581362|PMID:32619608|PMID:33090715|PMID:33301772|PMID:33546218|PMID:33691693|PMID:34758253|PMID:35076026|PMID:35119454|PMID:35260635|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0110354	retinitis pigmentosa 19		ISO	RGD:1319792	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0110354	retinitis pigmentosa 19		ISO	RGD:1319792	D	RGD:7240710	20130425	OMIM			
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0110354	retinitis pigmentosa 19		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 19 | ClinVar Annotator: match by term: Retinitis pigmentosa 19	PMID:10090887|PMID:1017087|PMID:10206579|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16546111|PMID:16896346|PMID:17277736|PMID:17325179|PMID:17576681|PMID:17932850|PMID:17982420|PMID:18161617|PMID:18285826|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19352439|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24409374|PMID:24453473|PMID:24509150|PMID:24585425|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27527345|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27884173|PMID:27939946|PMID:2804164|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28248825|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28571903|PMID:28611652|PMID:28771251|PMID:28947085|PMID:29068140|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29431110|PMID:29461686|PMID:29555955|PMID:29641573|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29975949|PMID:3002862|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30204727|PMID:30215852|PMID:30337596|PMID:30563929|PMID:30576320|PMID:30578500|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30903310|PMID:30924848|PMID:31015497|PMID:31054281|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31573552|PMID:31576780|PMID:31589614|PMID:31614660|PMID:31618761|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31766579|PMID:31814694|PMID:31816670|PMID:31934596|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32534057|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32810830|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33369172|PMID:33375396|PMID:33546218|PMID:33691693|PMID:33706644|PMID:33732702|PMID:33749171|PMID:33841504|PMID:33851411|PMID:33909047|PMID:33988224|PMID:34008801|PMID:34008892|PMID:34073554|PMID:34198153|PMID:34240658|PMID:34313030|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34440443|PMID:34570182|PMID:34647987|PMID:34758253
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0110354	retinitis pigmentosa 19		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 19 | ClinVar Annotator: match by term: Retinitis pigmentosa 19	PMID:34795310|PMID:34874912|PMID:34906470|PMID:34946930|PMID:34996991|PMID:35055178|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35353811|PMID:35409265|PMID:35456422|PMID:35476365|PMID:35656873|PMID:35657619|PMID:35672425|PMID:35753512|PMID:35836572|PMID:35886001|PMID:36087940|PMID:36209838|PMID:36284460|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36471740|PMID:36672815|PMID:36729443|PMID:36819107|PMID:36909829|PMID:36910710|PMID:37217489|PMID:37498587|PMID:37510321|PMID:38219857|PMID:38309476|PMID:38465142|PMID:38466963|PMID:39162841|PMID:39462066|PMID:4097981|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9503029|PMID:9536098|PMID:9666097|PMID:973280|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0110354	retinitis pigmentosa 19		ISS	RGD:1616873	D	RGD:13592920	20230718	MouseDO		OMIM:601718	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 40	PMID:10413692|PMID:10458172|PMID:10711710|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11379881|PMID:11385708|PMID:11702214|PMID:11726554|PMID:12037008|PMID:12192456|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15614537|PMID:16103129|PMID:16303926|PMID:16896346|PMID:17277736|PMID:17325179|PMID:17576681|PMID:18161617|PMID:18285826|PMID:18854780|PMID:19074458|PMID:19217903|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20696155|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22661472|PMID:22661473|PMID:23105016|PMID:23143460|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24033266|PMID:24265693|PMID:24585425|PMID:24713488|PMID:24743636|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25444351|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27032803|PMID:27535533|PMID:27739528|PMID:27775217|PMID:27884173|PMID:27939946|PMID:2804164|PMID:28041643|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28571903|PMID:28611652|PMID:28771251|PMID:28947085|PMID:29114839|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29848554|PMID:29854428|PMID:29925512|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30204727|PMID:30337596|PMID:30576320|PMID:30609409|PMID:30643219|PMID:30718709|PMID:30798147|PMID:30903310|PMID:30924848|PMID:31015497|PMID:31054281|PMID:31213501|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31576780|PMID:31589614|PMID:31618761|PMID:31725702|PMID:31766579|PMID:31814694|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32534057|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32810830|PMID:32815999|PMID:32845050|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33546218|PMID:33706644|PMID:33749171|PMID:33851411|PMID:33909047|PMID:33988224|PMID:34008892|PMID:34198153|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34570182|PMID:34758253|PMID:34795310|PMID:34874912|PMID:34946930|PMID:34996991|PMID:35055178|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35409265|PMID:35456422|PMID:35476365|PMID:35836572|PMID:36209838|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36471740|PMID:36672815|PMID:36819107|PMID:36909829|PMID:36910710|PMID:37217489|PMID:37498587|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0110390	retinitis pigmentosa 1		ISO	RGD:1319792	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 1	PMID:17325179|PMID:20029649|PMID:23419329|PMID:23769331|PMID:23982839|PMID:25444351|PMID:25741868|PMID:28492532|PMID:30903310|PMID:31015497|PMID:31054281|PMID:31964843|PMID:32307445|PMID:32531858
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0111013	cone-rod dystrophy 3		ISO	RGD:1319792	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0111013	cone-rod dystrophy 3		ISO	RGD:1319792	D	RGD:7240710	20130221	OMIM			
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0111013	cone-rod dystrophy 3		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 3 | ClinVar Annotator: match by term: Cone-rod dystrophy 3	PMID:10090887|PMID:1017087|PMID:10206579|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15161829|PMID:15192030|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16546111|PMID:16896346|PMID:17277736|PMID:17325179|PMID:17576681|PMID:17932850|PMID:17982420|PMID:18161617|PMID:18285826|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19352439|PMID:19365591|PMID:20128570|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24409374|PMID:24509150|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27527345|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27884173|PMID:27939946|PMID:2804164|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28248825|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28571903|PMID:28611652|PMID:28771251|PMID:28947085|PMID:29068140|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29431110|PMID:29461686|PMID:29555955|PMID:29641573|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29847639|PMID:29848554|PMID:29854428|PMID:29925512|PMID:3002862|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30204727|PMID:30215852|PMID:30337596|PMID:30563929|PMID:30576320|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30924848|PMID:31129250|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31573552|PMID:31576780|PMID:31589614|PMID:31614660|PMID:31618761|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31766579|PMID:31814694|PMID:31816670|PMID:31934596|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32810830|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33369172|PMID:33375396|PMID:33546218|PMID:33691693|PMID:33706644|PMID:33732702|PMID:33749171|PMID:33841504|PMID:33851411|PMID:33909047|PMID:33988224|PMID:34008801|PMID:34008892|PMID:34073554|PMID:34198153|PMID:34240658|PMID:34313030|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34440443|PMID:34570182|PMID:34647987|PMID:34758253|PMID:34795310|PMID:34874912|PMID:34906470|PMID:34946930|PMID:35055178|PMID:35076026|PMID:35119454|PMID:35120629
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0111013	cone-rod dystrophy 3		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 3 | ClinVar Annotator: match by term: Cone-rod dystrophy 3	PMID:35194496|PMID:35260635|PMID:35353811|PMID:35409265|PMID:35456422|PMID:35476365|PMID:35657619|PMID:35672425|PMID:35753512|PMID:35836572|PMID:35886001|PMID:36087940|PMID:36209838|PMID:36284460|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36471740|PMID:36672815|PMID:36819107|PMID:36909829|PMID:36910710|PMID:37217489|PMID:37498587|PMID:37510321|PMID:38219857|PMID:38309476|PMID:38465142|PMID:38466963|PMID:39162841|PMID:39462066|PMID:4097981|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9503029|PMID:9536098|PMID:9666097|PMID:973280|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0111013	cone-rod dystrophy 3		ISS	RGD:1616873	D	RGD:13592920	20230718	MouseDO		OMIM:604116	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:0111428	essential tremor 1		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aganglionic megacolon	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16968212
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:8547535|PMID:23701314	20140217	RGD			
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32531858|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30902645|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31736247|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32845050|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30902645|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31736247|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32845050|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:34906470|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090887|PMID:10206579|PMID:10396622|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11846518|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22334370|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30902645|PMID:31397521|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31736247|PMID:31814694|PMID:31964843|PMID:31968401|PMID:32235935|PMID:32278709|PMID:32413971|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32845050|PMID:32856788|PMID:33223529|PMID:33375396|PMID:33546218|PMID:33691693|PMID:33851411|PMID:34008892|PMID:34906470|PMID:35260635|PMID:35903041|PMID:36909829|PMID:38054408|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090887|PMID:10206579|PMID:10396622|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11846518|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22334370|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29068140|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30902645|PMID:31397521|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31736247|PMID:31814694|PMID:31964843|PMID:31968401|PMID:32235935|PMID:32278709|PMID:32413971|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32845050|PMID:32856788|PMID:33223529|PMID:33375396|PMID:33546218|PMID:33691693|PMID:33851411|PMID:34008892|PMID:34874912|PMID:34906470|PMID:35260635|PMID:35903041|PMID:36909829|PMID:38054408|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090887|PMID:10206579|PMID:10396622|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11846518|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17562343|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18161617|PMID:18285826|PMID:18334942|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22128245|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22334370|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:248200|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26311262|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26720470|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:26992781|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27666373|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27884173|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28327206|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28571903|PMID:28611652|PMID:28771251|PMID:28838317|PMID:28947085|PMID:29068140|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29207047|PMID:29310964|PMID:29343940|PMID:29431110|PMID:29461686|PMID:29555955|PMID:2964157|PMID:29641573|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29847651|PMID:29925512|PMID:29971439|PMID:29975949|PMID:3002862|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30190494|PMID:30204727|PMID:30215852|PMID:30480703|PMID:30480704|PMID:30576320|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:30834176|PMID:30902645|PMID:30924848|PMID:31054281|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31216405|PMID:31397521|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31573552|PMID:31589614|PMID:31618761|PMID:31618812|PMID:31725702|PMID:31736247|PMID:31766579|PMID:31814694|PMID:31816670|PMID:31934596|PMID:31964843|PMID:31968401|PMID:31980526|PMID:32000842|PMID:32013026|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32235935|PMID:32244552|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32810830|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32856788|PMID:32913387|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33369172|PMID:33375396|PMID:33505770|PMID:33546218|PMID:33608557|PMID:33633436|PMID:33691693|PMID:33706644|PMID:33724725|PMID:33732702|PMID:33749171|PMID:33781268|PMID:33841504
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:33846575|PMID:33851411|PMID:33909047|PMID:33988224|PMID:34008801|PMID:34008892|PMID:34198153|PMID:34240658|PMID:34313030|PMID:34315337|PMID:34321860|PMID:34327195|PMID:34426522|PMID:34570182|PMID:34647987|PMID:34758253|PMID:34795310|PMID:34874912|PMID:34906470|PMID:34946930|PMID:34996991|PMID:35055178|PMID:35076026|PMID:35112029|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35243166|PMID:35260635|PMID:35409265|PMID:35456422|PMID:35476365|PMID:35656873|PMID:35657619|PMID:35753512|PMID:35836572|PMID:35886001|PMID:35903041|PMID:35973334|PMID:36209838|PMID:36284460|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36672815|PMID:36819107|PMID:36909829|PMID:36910710|PMID:37734845|PMID:38054408|PMID:38219857|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090887|PMID:10206579|PMID:10396622|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11846518|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16103135|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17562343|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18161617|PMID:18285826|PMID:18334942|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22128245|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22334370|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24763286|PMID:248200|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26311262|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26720470|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:26992781|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27666373|PMID:27730010|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27884173|PMID:27939946|PMID:28005406|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28147405|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28248825|PMID:28327206|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28571903|PMID:28611652|PMID:28771251|PMID:28838317|PMID:28947085|PMID:29068140|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29207047|PMID:29310964|PMID:29343940|PMID:29431110|PMID:29461686|PMID:29555955|PMID:2964157|PMID:29641573|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29847651|PMID:29925512|PMID:29971439|PMID:29975949|PMID:3002862|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30190494|PMID:30204727|PMID:30215852|PMID:30480703|PMID:30480704|PMID:30576320|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:30834176|PMID:30902645|PMID:30924848|PMID:3105428|PMID:31054281|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31216405|PMID:31397521|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31573552|PMID:31589614|PMID:31618761|PMID:31618812|PMID:31725702|PMID:31736247|PMID:31766579|PMID:31814694|PMID:31816670|PMID:31934596|PMID:31964843|PMID:31968401|PMID:31980526|PMID:32000842|PMID:32013026|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32235935|PMID:32244552|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32810830|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32856788|PMID:32901917|PMID:32913387|PMID:3309071|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33369172
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:33375396|PMID:33505770|PMID:33546218|PMID:33608557|PMID:33633436|PMID:33691693|PMID:33706644|PMID:33724725|PMID:33732702|PMID:33749171|PMID:33781268|PMID:33841504|PMID:33846575|PMID:33851411|PMID:33909047|PMID:33988224|PMID:34008801|PMID:34008892|PMID:34198153|PMID:34240658|PMID:34313030|PMID:34315337|PMID:34321860|PMID:34327195|PMID:34426522|PMID:34570182|PMID:34647987|PMID:34758253|PMID:34795310|PMID:34874912|PMID:34906470|PMID:34946930|PMID:34996991|PMID:35055178|PMID:35076026|PMID:35112029|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35243166|PMID:35260635|PMID:35409265|PMID:35456422|PMID:35476365|PMID:35656873|PMID:35657619|PMID:35753512|PMID:35836572|PMID:35886001|PMID:35903041|PMID:35973334|PMID:36209838|PMID:36284460|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36672815|PMID:36819107|PMID:36909829|PMID:36910710|PMID:37217489|PMID:37498587|PMID:37734845|PMID:37930186|PMID:38003421|PMID:38054408|PMID:38219857|PMID:38309476|PMID:38465142|PMID:39162841|PMID:39462066|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090887|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11687513|PMID:11702214|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12796258|PMID:15192030|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16896346|PMID:17325179|PMID:17576681|PMID:18161617|PMID:18285826|PMID:18977788|PMID:19074458|PMID:19217903|PMID:20696155|PMID:20981092|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661473|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24397708|PMID:24453473|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25472526|PMID:25474345|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25921964|PMID:25922843|PMID:26161775|PMID:26247787|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26992781|PMID:27535533|PMID:27739528|PMID:27775217|PMID:27884173|PMID:28005406|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28571903|PMID:28611652|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29310964|PMID:29343940|PMID:29431110|PMID:29555955|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29847651|PMID:29925512|PMID:3002862|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30215852|PMID:30563929|PMID:30576320|PMID:30609409|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30924848|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31397521|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31589614|PMID:31618761|PMID:31725702|PMID:31766579|PMID:31814694|PMID:31816670|PMID:31934596|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33375396|PMID:33546218|PMID:33608557|PMID:33706644|PMID:33749171|PMID:33841504|PMID:33909047|PMID:33924840|PMID:33988224|PMID:34008892|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34570182|PMID:34758253|PMID:34874912|PMID:34906470|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35456422|PMID:35477481|PMID:35608843|PMID:35656873|PMID:35657619|PMID:35753512|PMID:35836572|PMID:35886001|PMID:36259723|PMID:36338671|PMID:36460718|PMID:36672815|PMID:36819107|PMID:36909829|PMID:36931393|PMID:37331482|PMID:37498587|PMID:37734845|PMID:38219857|PMID:38309476|PMID:38465142|PMID:38499139|PMID:38927562|PMID:39043154|PMID:39462066|PMID:40225145|PMID:40269797|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9536098|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10090887|PMID:1017087|PMID:10206579|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11687513|PMID:11702214|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12796258|PMID:15192030|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16896346|PMID:17325179|PMID:17576681|PMID:18161617|PMID:18285826|PMID:18334942|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19365591|PMID:20696155|PMID:20981092|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22661472|PMID:22661473|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:26976702|PMID:26992781|PMID:27014590|PMID:27030965|PMID:27535533|PMID:27739528|PMID:27775217|PMID:27884173|PMID:27939946|PMID:28005406|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28571903|PMID:28611652|PMID:28947085|PMID:29068140|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29310964|PMID:29343940|PMID:29431110|PMID:29461686|PMID:29555955|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29925512|PMID:3002862|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30204727|PMID:30215852|PMID:30563929|PMID:30576320|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:30834176|PMID:30924848|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31397521|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31589614|PMID:31618761|PMID:31725702|PMID:31766579|PMID:31814694|PMID:31816670|PMID:31934596|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33369172|PMID:33375396|PMID:33546218|PMID:33608557|PMID:33706644|PMID:33749171|PMID:33841504|PMID:33851411|PMID:33909047|PMID:33924840|PMID:33988224|PMID:34008801|PMID:34008892|PMID:34198153|PMID:34313030|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34570182|PMID:34647987|PMID:34758253|PMID:34874912|PMID:34906470|PMID:34946930|PMID:35055178|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35409265|PMID:35456422|PMID:35476365|PMID:35608843|PMID:35656873|PMID:35657619|PMID:35672425|PMID:35753512|PMID:35836572|PMID:35886001|PMID:36209838|PMID:36259723|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36672815|PMID:36819107|PMID:36909829|PMID:36910710|PMID:36931393|PMID:37331482|PMID:37498587|PMID:37510321|PMID:37734845|PMID:37930186|PMID:38219857|PMID:38309476|PMID:38465142|PMID:38499139|PMID:38927562|PMID:39043154|PMID:39462066|PMID:40225145|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10584	retinitis pigmentosa	susceptibility	ISO	RGD:1319792	D	RGD:1598552|PMID:9466990	20061204	RGD			
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10871	age related macular degeneration		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Age-related macular degeneration | ClinVar Annotator: match by term: MACULAR DEGENERATION, SENILE | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED	PMID:10090887|PMID:1017087|PMID:10206579|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12796258|PMID:14517951|PMID:15161829|PMID:15192030|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16546111|PMID:16896346|PMID:17277736|PMID:17576681|PMID:17932850|PMID:17982420|PMID:18161617|PMID:18285826|PMID:18334942|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19352439|PMID:19365591|PMID:20128570|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24409374|PMID:24453473|PMID:24509150|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27527345|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27884173|PMID:27939946|PMID:2804164|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28248825|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28571903|PMID:28611652|PMID:28771251|PMID:28947085|PMID:29068140|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29431110|PMID:29461686|PMID:29555955|PMID:29641573|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29848554|PMID:29854428|PMID:29925512|PMID:3002862|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30204727|PMID:30215852|PMID:30337596|PMID:30563929|PMID:30576320|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30924848|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31576780|PMID:31589614|PMID:31614660|PMID:31618761|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31766579|PMID:31814694|PMID:31816670|PMID:31934596|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32810830|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33369172|PMID:33375396|PMID:33546218|PMID:33691693|PMID:33706644|PMID:33732702|PMID:33749171|PMID:33841504|PMID:33851411|PMID:33909047|PMID:33988224|PMID:34008801|PMID:34008892|PMID:34073554|PMID:34198153|PMID:34240658|PMID:34313030|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34440443|PMID:34570182|PMID:34647987|PMID:34758253|PMID:34795310|PMID:34874912|PMID:34906470|PMID:34946930|PMID:35055178|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35353811|PMID:35409265|PMID:35456422
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:10871	age related macular degeneration		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Age-related macular degeneration | ClinVar Annotator: match by term: MACULAR DEGENERATION, SENILE | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED	PMID:35476365|PMID:35656873|PMID:35657619|PMID:35672425|PMID:35753512|PMID:35836572|PMID:35886001|PMID:36087940|PMID:36209838|PMID:36284460|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36471740|PMID:36672815|PMID:36819107|PMID:36909829|PMID:36910710|PMID:37217489|PMID:37498587|PMID:37510321|PMID:38219857|PMID:38309476|PMID:38465142|PMID:38466963|PMID:39162841|PMID:39462066|PMID:4097981|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9503029|PMID:9536098|PMID:9666097|PMID:973280|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:1115	sarcoma		ISO	RGD:1319792	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:10090887|PMID:10612508|PMID:10634594|PMID:11017087|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:18285826|PMID:18977788|PMID:20981092|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:28041643|PMID:28044389|PMID:28341476|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29431110|PMID:29555955|PMID:29925512|PMID:3002862|PMID:30215852|PMID:30609409|PMID:30643219|PMID:30670881|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32815999|PMID:32845050|PMID:32913387|PMID:33706644|PMID:34426522|PMID:34570182|PMID:34906470|PMID:35076026|PMID:35119454|PMID:35657619|PMID:35753512|PMID:35886001|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:1143	exotropia		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Exophoria	PMID:10958763|PMID:11017087|PMID:12037008|PMID:12796258|PMID:16103129|PMID:16896346|PMID:18161617|PMID:18285826|PMID:19074458|PMID:19217903|PMID:20696155|PMID:21786275|PMID:22025579|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661473|PMID:23755871|PMID:23769331|PMID:24033266|PMID:24265693|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25921964|PMID:25922843|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26780318|PMID:27535533|PMID:27775217|PMID:27884173|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28571903|PMID:28611652|PMID:29114839|PMID:29555955|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29925512|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30609409|PMID:30718709|PMID:30924848|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31589614|PMID:31725702|PMID:31814694|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32307445|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33301772|PMID:33302505|PMID:33546218|PMID:33706644|PMID:33749171|PMID:33909047|PMID:33988224|PMID:34008892|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34758253|PMID:34874912|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35456422|PMID:35836572|PMID:36460718|PMID:36672815|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:11830	myopia		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10090887|PMID:10612508|PMID:10634594|PMID:10958761|PMID:11017087|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:16546111|PMID:18285826|PMID:18977788|PMID:20981092|PMID:21911583|PMID:22264887|PMID:22589445|PMID:22661472|PMID:23144455|PMID:23695285|PMID:23755871|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:24938718|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25525159|PMID:25544989|PMID:25741868|PMID:26247787|PMID:26780318|PMID:28041643|PMID:28044389|PMID:28327576|PMID:28341476|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29431110|PMID:29555955|PMID:29641573|PMID:29925512|PMID:3002862|PMID:30060493|PMID:30093795|PMID:30215852|PMID:30609409|PMID:30643219|PMID:30670881|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32815999|PMID:32845050|PMID:32913387|PMID:33090715|PMID:33301772|PMID:33546218|PMID:33691693|PMID:33706644|PMID:34426522|PMID:34570182|PMID:34758253|PMID:34906470|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35657619|PMID:35753512|PMID:35886001|PMID:36460718|PMID:36672815|PMID:36819107|PMID:36909829|PMID:9054934|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:1283	enterocele		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:12849	autistic disorder		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:1324	lung cancer		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1319792	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:10090887|PMID:10711710|PMID:10958761|PMID:11527935|PMID:11687513|PMID:17325136|PMID:19074458|PMID:21873672|PMID:23755871|PMID:23769331|PMID:24342785|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25312043|PMID:25525159|PMID:25544989|PMID:25741868|PMID:25922843|PMID:26103963|PMID:26780318|PMID:26872967|PMID:28041643|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29736279|PMID:29854428|PMID:29925512|PMID:30060493|PMID:30718709|PMID:30834176|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31589614|PMID:31766579|PMID:31964843|PMID:32036094|PMID:32141364|PMID:32307445|PMID:32531858|PMID:32619608|PMID:33546218|PMID:35119454|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9781034
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:1596	depressive disorder		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:10413692|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11385708|PMID:11702214|PMID:12192456|PMID:16303926|PMID:17576681|PMID:18285826|PMID:18854780|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24265693|PMID:24713488|PMID:25741868|PMID:26872967|PMID:28041643|PMID:28118664|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29854428|PMID:29925512|PMID:30093795|PMID:30609409|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32810830|PMID:32815999|PMID:32845050|PMID:33302505|PMID:33546218|PMID:33706644|PMID:34327195|PMID:34758253|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35456422|PMID:35836572|PMID:36209838|PMID:36460718|PMID:36471740|PMID:36672815|PMID:9054934|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:1826	epilepsy		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10958761|PMID:16546111|PMID:22589445|PMID:22968130|PMID:23134348|PMID:23755871|PMID:24938718|PMID:25312043|PMID:25525159|PMID:25544989|PMID:25741868|PMID:26247787|PMID:26780318|PMID:28041643|PMID:28118664|PMID:28341476|PMID:28492532|PMID:28947085|PMID:29186038|PMID:29641573|PMID:29925512|PMID:30093795|PMID:30718709|PMID:31429209|PMID:31816670|PMID:31964843|PMID:32090030|PMID:32307445|PMID:32581362|PMID:32619608|PMID:33090715|PMID:33301772|PMID:33546218|PMID:33691693|PMID:33749171|PMID:34758253|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35456422|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:1891	optic nerve disease		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic neuropathy	PMID:10958763|PMID:15614537|PMID:18285826|PMID:19074458|PMID:20696155|PMID:22264887|PMID:22328824|PMID:23443024|PMID:23591405|PMID:23695285|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25525159|PMID:25741868|PMID:26261413|PMID:26872967|PMID:26976702|PMID:27775217|PMID:28041643|PMID:28118664|PMID:28130426|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29162642|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29925512|PMID:30093795|PMID:30204727|PMID:30576320|PMID:30643219|PMID:30718709|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31618761|PMID:31766579|PMID:31964843|PMID:31980526|PMID:32141364|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:33706644|PMID:33749171|PMID:33851411|PMID:34198153|PMID:34570182|PMID:34758253|PMID:35055178|PMID:35076026|PMID:35119454|PMID:35409265|PMID:35476365|PMID:36209838|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36819107|PMID:36909829|PMID:36910710
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:2030	anxiety disorder		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10413692|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11385708|PMID:11702214|PMID:12192456|PMID:16303926|PMID:17576681|PMID:18285826|PMID:18854780|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24265693|PMID:24713488|PMID:25741868|PMID:26872967|PMID:28041643|PMID:28118664|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29854428|PMID:29925512|PMID:30093795|PMID:30609409|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32810830|PMID:32815999|PMID:32845050|PMID:33302505|PMID:33546218|PMID:33706644|PMID:34327195|PMID:34758253|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35456422|PMID:35836572|PMID:36209838|PMID:36460718|PMID:36471740|PMID:36672815|PMID:9054934|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:2518	orchitis		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Orchitis	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:2841	asthma		ISO	RGD:1319792	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:10413692|PMID:10958763|PMID:11702214|PMID:12192456|PMID:16303926|PMID:17576681|PMID:18285826|PMID:18854780|PMID:19074458|PMID:24033266|PMID:24265693|PMID:25741868|PMID:26872967|PMID:28118664|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29555955|PMID:29854428|PMID:29925512|PMID:30093795|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:33302505|PMID:33546218|PMID:33706644|PMID:34327195|PMID:34758253|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35836572|PMID:36209838|PMID:36460718|PMID:36471740|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:3275	thymoma		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:15192030|PMID:18285826|PMID:25474345|PMID:25741868|PMID:28492532|PMID:30563929|PMID:31212395|PMID:31456290|PMID:31522899|PMID:31964843|PMID:32307445|PMID:33841504|PMID:34426522|PMID:35886001|PMID:38219857|PMID:38465142
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:4189	mutism		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:4448	macular degeneration		ISO	RGD:1319792	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16968212
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:4448	macular degeneration		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy	PMID:10090887|PMID:1017087|PMID:10206579|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12796258|PMID:14517951|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16303926|PMID:16546111|PMID:16896346|PMID:17576681|PMID:17982420|PMID:18161617|PMID:18285826|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20696155|PMID:20981092|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22995991|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23940504|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24509150|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27527345|PMID:27535533|PMID:27739528|PMID:27775217|PMID:27884173|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28571903|PMID:28611652|PMID:28947085|PMID:29068140|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29422768|PMID:29431110|PMID:29461686|PMID:29555955|PMID:29641573|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29854428|PMID:29925512|PMID:3002862|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30204727|PMID:30215852|PMID:30576320|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:30924848|PMID:31213501|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31576780|PMID:31589614|PMID:31618761|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31766579|PMID:31814694|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32810830|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33369172|PMID:33375396|PMID:33546218|PMID:33691693|PMID:33706644|PMID:33732702|PMID:33749171|PMID:33851411|PMID:33909047|PMID:33988224|PMID:34008801|PMID:34008892|PMID:34073554|PMID:34198153|PMID:34313030|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34570182|PMID:34647987|PMID:34758253|PMID:34795310|PMID:34874912|PMID:34906470|PMID:34946930|PMID:35055178|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35409265|PMID:35456422|PMID:35476365|PMID:35656873|PMID:35657619|PMID:35672425|PMID:35753512|PMID:35836572|PMID:35886001|PMID:36209838|PMID:36284460|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36471740|PMID:36672815|PMID:36819107|PMID:36909829|PMID:36910710|PMID:37510321|PMID:39043154|PMID:39162841|PMID:4097981|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:1319792	D	RGD:1598551|PMID:9295268	20061204	RGD			
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319792	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:10090887|PMID:10612508|PMID:10634594|PMID:11017087|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:18285826|PMID:18977788|PMID:20981092|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:28041643|PMID:28044389|PMID:28341476|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29431110|PMID:29555955|PMID:29925512|PMID:3002862|PMID:30215852|PMID:30609409|PMID:30643219|PMID:30670881|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32815999|PMID:32845050|PMID:32913387|PMID:33706644|PMID:34426522|PMID:34570182|PMID:34906470|PMID:35076026|PMID:35119454|PMID:35657619|PMID:35753512|PMID:35886001|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:4481	allergic rhinitis		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:480	movement disease		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1319792	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:535	sleep disorder		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:540	strabismus		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:10958761|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26103963|PMID:26780318|PMID:28492532|PMID:31964843|PMID:32307445|PMID:34073554
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:5679	retinal disease		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10612508|PMID:10634594|PMID:10746567|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11379881|PMID:11527935|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11846518|PMID:12192456|PMID:14517951|PMID:15192030|PMID:15494742|PMID:15579991|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16682602|PMID:17296903|PMID:17325179|PMID:17576681|PMID:18414213|PMID:18854780|PMID:19074458|PMID:19217903|PMID:20335603|PMID:20404325|PMID:20554613|PMID:20647261|PMID:21330655|PMID:21911583|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22328824|PMID:22427542|PMID:22661472|PMID:22863181|PMID:23143460|PMID:23419329|PMID:23499370|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24033266|PMID:24265693|PMID:24509150|PMID:24713488|PMID:24743636|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25346251|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25922843|PMID:26161775|PMID:26229699|PMID:26311262|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:27030965|PMID:27367509|PMID:27583828|PMID:27596865|PMID:27666373|PMID:27775217|PMID:27820952|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28157192|PMID:28224992|PMID:28327206|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29068140|PMID:29114839|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29555955|PMID:29641573|PMID:29701254|PMID:29847635|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30204727|PMID:30215852|PMID:30480703|PMID:30480704|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30903310|PMID:31015497|PMID:31180159|PMID:31212395|PMID:31397521|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31589614|PMID:31614660|PMID:31618761|PMID:31736247|PMID:31816670|PMID:31934596|PMID:31963381|PMID:31964843|PMID:31968401|PMID:31980526|PMID:32037395|PMID:32141364|PMID:32307445|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32653833|PMID:32783370|PMID:32815999|PMID:32821503|PMID:32845050|PMID:32913387|PMID:33090715|PMID:33261146|PMID:33301772|PMID:33369172|PMID:33375396|PMID:33546218|PMID:33633436|PMID:33706644|PMID:33732702|PMID:33749171|PMID:33851411|PMID:34198153|PMID:34240658|PMID:34315337|PMID:34321860|PMID:34327195|PMID:34426522|PMID:34647987|PMID:34758253|PMID:34795310|PMID:34874912|PMID:34906470|PMID:34946930|PMID:34996991|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35156991|PMID:35194496|PMID:35243166|PMID:35260635|PMID:35409265|PMID:35413457|PMID:35456422|PMID:35656873|PMID:35657619|PMID:35753512|PMID:35836572|PMID:35903041|PMID:36209838|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36464167|PMID:36672815|PMID:36819107|PMID:36909829|PMID:37296172|PMID:37555651|PMID:37734845|PMID:38054408|PMID:38219857|PMID:40244202|PMID:8533764|PMID:9054934|PMID:9295268|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:5723	optic atrophy		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:10090887|PMID:1017087|PMID:10206579|PMID:10413692|PMID:10458172|PMID:10711710|PMID:10746567|PMID:10958763|PMID:11017087|PMID:11379881|PMID:11527935|PMID:11702214|PMID:12192456|PMID:14517951|PMID:15579991|PMID:16103129|PMID:16303926|PMID:17576681|PMID:18285826|PMID:18854780|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:22025579|PMID:22264887|PMID:22312191|PMID:22995991|PMID:23096905|PMID:23755871|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24097981|PMID:24265693|PMID:24509150|PMID:24743636|PMID:25066811|PMID:25087612|PMID:25283059|PMID:25444351|PMID:25712131|PMID:25741868|PMID:25910913|PMID:26551331|PMID:26593885|PMID:26780318|PMID:26872967|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28224992|PMID:28341476|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29162642|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29854428|PMID:29925512|PMID:30060493|PMID:30093795|PMID:30204727|PMID:30215852|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30718709|PMID:31212395|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31589614|PMID:31618761|PMID:31618812|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:32845050|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33369172|PMID:33546218|PMID:33691693|PMID:33706644|PMID:33749171|PMID:33851411|PMID:33909047|PMID:34008801|PMID:34073554|PMID:34313030|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34647987|PMID:34758253|PMID:34874912|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35456422|PMID:35672425|PMID:35836572|PMID:35886001|PMID:36209838|PMID:36460718|PMID:36471740|PMID:36552712|PMID:36672815|PMID:37510321|PMID:37705246|PMID:38309476|PMID:39162841|PMID:39462066|PMID:9054934|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:630	genetic disease		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10090887|PMID:10612508|PMID:10634594|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12796258|PMID:15108289|PMID:16103129|PMID:16896346|PMID:17576681|PMID:18161617|PMID:18285826|PMID:18977788|PMID:19074458|PMID:19217903|PMID:20696155|PMID:20981092|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661473|PMID:23144455|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23953153|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24713488|PMID:24938718|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25921964|PMID:25922843|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:27535533|PMID:27775217|PMID:27820952|PMID:27884173|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28571903|PMID:28611652|PMID:29114839|PMID:29162642|PMID:29310964|PMID:29431110|PMID:29555955|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29925512|PMID:3002862|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30215852|PMID:30337596|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30924848|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31589614|PMID:31618761|PMID:31725702|PMID:31814694|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32534057|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33301772|PMID:33302505|PMID:33546218|PMID:33706644|PMID:33749171|PMID:33909047|PMID:33988224|PMID:34008892|PMID:34073554|PMID:34240658|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34570182|PMID:34758253|PMID:34874912|PMID:34906470|PMID:34946930|PMID:34996991|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35409265|PMID:35456422|PMID:35657619|PMID:35753512|PMID:35836572|PMID:35886001|PMID:36460718|PMID:36672815|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9536098|PMID:973280|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:630	genetic disease		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10090887|PMID:10612508|PMID:10634594|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12796258|PMID:15108289|PMID:15614537|PMID:16103129|PMID:16896346|PMID:17576681|PMID:18161617|PMID:18285826|PMID:18977788|PMID:19074458|PMID:19217903|PMID:20696155|PMID:20981092|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22661473|PMID:23144455|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23953153|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24713488|PMID:24938718|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25921964|PMID:25922843|PMID:26103963|PMID:26247787|PMID:26261413|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27535533|PMID:27775217|PMID:27820952|PMID:27884173|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28571903|PMID:28611652|PMID:28947085|PMID:29114839|PMID:29162642|PMID:29310964|PMID:29431110|PMID:29461686|PMID:29555955|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29925512|PMID:3002862|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30204727|PMID:30215852|PMID:30337596|PMID:30576320|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30924848|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31589614|PMID:31618761|PMID:31725702|PMID:31766579|PMID:31814694|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32483926|PMID:32531858|PMID:32534057|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:32845050|PMID:32845068|PMID:32913387|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33301772|PMID:33302505|PMID:33546218|PMID:33706644|PMID:33749171|PMID:33851411|PMID:33909047|PMID:33988224|PMID:34008892|PMID:34073554|PMID:34198153|PMID:34240658|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34570182|PMID:34758253|PMID:34874912|PMID:34906470|PMID:34946930|PMID:34996991|PMID:35055178|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35409265|PMID:35456422|PMID:35476365|PMID:35657619|PMID:35753512|PMID:35836572|PMID:35886001|PMID:36209838|PMID:36284670|PMID:36338671|PMID:36460718|PMID:36672815|PMID:36819107|PMID:36909829|PMID:36910710|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9536098|PMID:973280|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319792	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:10090887|PMID:10612508|PMID:10634594|PMID:11017087|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:18285826|PMID:18977788|PMID:20981092|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:28041643|PMID:28044389|PMID:28341476|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29431110|PMID:29555955|PMID:29925512|PMID:3002862|PMID:30215852|PMID:30609409|PMID:30643219|PMID:30670881|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32815999|PMID:32845050|PMID:32913387|PMID:33706644|PMID:34426522|PMID:34570182|PMID:34906470|PMID:35076026|PMID:35119454|PMID:35657619|PMID:35753512|PMID:35886001|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:7319	axonal neuropathy		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:767	muscular atrophy		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:8465	retinoschisis		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinoschisis	PMID:25741868
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:8466	retinal degeneration		ISO	RGD:1319792	D	RGD:7829712|PMID:22661473	20140122	RGD		DNA:mutation:exon:p.G1961E	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:8466	retinal degeneration		ISO	RGD:1319792	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal degeneration	PMID:10090887|PMID:10612508|PMID:10634594|PMID:10958761|PMID:11017087|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:17325179|PMID:18285826|PMID:18977788|PMID:20029649|PMID:20981092|PMID:22264887|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23769331|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:24938718|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25444351|PMID:25741868|PMID:26247787|PMID:26780318|PMID:26872967|PMID:28041643|PMID:28044389|PMID:28341476|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29431110|PMID:29555955|PMID:29925512|PMID:3002862|PMID:30215852|PMID:30609409|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30903310|PMID:31015497|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32815999|PMID:32845050|PMID:32913387|PMID:33706644|PMID:34426522|PMID:34570182|PMID:34906470|PMID:35076026|PMID:35119454|PMID:35657619|PMID:35753512|PMID:35886001|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:8466	retinal degeneration		ISO	RGD:1616873	D	RGD:7829710|PMID:19553623	20140122	RGD			
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319792	D	RGD:7829713|PMID:16546111	20140122	RGD		DNA:mutations:cds:	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10090887|PMID:1017087|PMID:10206579|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16546111|PMID:16703556|PMID:16896346|PMID:17277736|PMID:17296903|PMID:17325179|PMID:17562343|PMID:17576681|PMID:17932850|PMID:17982420|PMID:18024811|PMID:18161617|PMID:18285826|PMID:18334942|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19352439|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20852892|PMID:20960624|PMID:20981092|PMID:21296825|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22128245|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22334370|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23341817|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23882696|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24397708|PMID:24409374|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24632595|PMID:24677105|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25363634|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:2552515|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26230768|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26766544|PMID:26780318|PMID:26872967|PMID:26957898|PMID:26976702|PMID:26992781|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27527345|PMID:27535533|PMID:27699414|PMID:27730010|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27884173|PMID:27939946|PMID:28005406|PMID:2804164|PMID:28041643|PMID:28044389|PMID:2811866|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28248825|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28571903|PMID:28611652|PMID:28771251|PMID:28947085|PMID:29068140|PMID:29099798|PMID:29114839|PMID:29145636|PMID:2916264|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29431110|PMID:29461686|PMID:29526278|PMID:2955595|PMID:29555955|PMID:2964157|PMID:29641573|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29847651|PMID:29848554|PMID:29854428|PMID:2992551|PMID:29925512|PMID:29975949|PMID:3002862|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30204727|PMID:30215852|PMID:30337596|PMID:30563929|PMID:30576320|PMID:30609409|PMID:30643219|PMID:30653986|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30820146|PMID:30834176|PMID:30903310|PMID:30924848|PMID:31015497|PMID:3105428|PMID:31054281|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31397521|PMID:31429209|PMID:3145629|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31573552|PMID:31576780|PMID:31589614|PMID:31614660|PMID:31618761|PMID:31618812
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:31630094|PMID:31725702|PMID:31736247|PMID:31766579|PMID:31790517|PMID:31814694|PMID:31816670|PMID:31847883|PMID:31884623|PMID:3193459|PMID:31934596|PMID:31963381|PMID:3196484|PMID:31964843|PMID:31968401|PMID:31980526|PMID:32000842|PMID:32016942|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32141364|PMID:32244552|PMID:32278709|PMID:3230744|PMID:32307445|PMID:32413971|PMID:32467599|PMID:32483926|PMID:3253185|PMID:32531858|PMID:32534057|PMID:32552793|PMID:32581362|PMID:32619608|PMID:32627976|PMID:32783370|PMID:32810830|PMID:32815999|PMID:3284505|PMID:32845050|PMID:32845068|PMID:32856788|PMID:32893963|PMID:32913387|PMID:3309071|PMID:33090715|PMID:33129279|PMID:33173045|PMID:33223529|PMID:33258285|PMID:33261146|PMID:33301772|PMID:33302505|PMID:33369172|PMID:3337539|PMID:33375396|PMID:33546218|PMID:33633436|PMID:33691693|PMID:33706644|PMID:33724725|PMID:33732702|PMID:33749171|PMID:33781268|PMID:33841504|PMID:33851411|PMID:33909047|PMID:33988224|PMID:34008801|PMID:34008892|PMID:34073554|PMID:34198153|PMID:34214897|PMID:34240658|PMID:34313030|PMID:34315337|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34440443|PMID:34570182|PMID:34587367|PMID:34625547|PMID:34647987|PMID:34758253|PMID:34795310|PMID:34874912|PMID:34906470|PMID:34946930|PMID:34996991|PMID:35055178|PMID:35076026|PMID:3511945|PMID:35119454|PMID:35120629|PMID:35156991|PMID:35194496|PMID:35260635|PMID:35353811|PMID:35409265|PMID:35456422|PMID:35476365|PMID:35477481|PMID:35608843|PMID:35656873|PMID:35657619|PMID:35672425|PMID:35753512|PMID:35754085|PMID:35775617|PMID:35836572|PMID:35886001|PMID:36011402|PMID:36087940|PMID:36209838|PMID:36259723|PMID:36284460|PMID:36284670|PMID:36338671|PMID:3646071|PMID:36460718|PMID:36471740|PMID:36552712|PMID:3667281|PMID:36672815|PMID:36819107|PMID:36909829|PMID:36910710|PMID:37217489|PMID:37296172|PMID:37331482|PMID:37498587|PMID:37510321|PMID:37587475|PMID:37644014|PMID:37705246|PMID:37734845|PMID:37774808|PMID:37930186|PMID:38003421|PMID:38182646|PMID:38219857|PMID:38309476|PMID:38465142|PMID:38466963|PMID:38927562|PMID:38927702|PMID:39043154|PMID:39162841|PMID:39462066|PMID:40269797|PMID:4097981|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9503029|PMID:9536098|PMID:9666097|PMID:973280|PMID:9781034|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:870	neuropathy		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy	PMID:10090887|PMID:10612508|PMID:10634594|PMID:11017087|PMID:11123914|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:18285826|PMID:18977788|PMID:19074458|PMID:20981092|PMID:22264887|PMID:23144455|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28341476|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29431110|PMID:29555955|PMID:29847635|PMID:29925512|PMID:3002862|PMID:30093795|PMID:30215852|PMID:30609409|PMID:30643219|PMID:30670881|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31589614|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32810830|PMID:32815999|PMID:32845050|PMID:32913387|PMID:33546218|PMID:33706644|PMID:34426522|PMID:34570182|PMID:34795310|PMID:34906470|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:35657619|PMID:35753512|PMID:35886001|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9000053	Headache		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Headache	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9000343	Vision Disorders		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Visual impairment | ClinVar Annotator: match by term: visual impairment	PMID:10958761|PMID:10958763|PMID:16303926|PMID:19074458|PMID:19265867|PMID:20696155|PMID:22025579|PMID:22661472|PMID:23105016|PMID:23143460|PMID:23755871|PMID:23769331|PMID:24453473|PMID:24585425|PMID:24938718|PMID:25312043|PMID:25525159|PMID:25741868|PMID:26161775|PMID:26780318|PMID:26872967|PMID:27014590|PMID:28041643|PMID:28118664|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29555955|PMID:29925512|PMID:30054919|PMID:30576320|PMID:31456290|PMID:31522899|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32036094|PMID:32141364|PMID:32307445|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32845050|PMID:33261146|PMID:33988224|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34758253|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35260635|PMID:35656873|PMID:35836572|PMID:36338671|PMID:36460718
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9000641	Pain		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pain	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9001733	Tinnitus		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9001981	Weight Loss		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9002079	Paresis		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1319792	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10413692|PMID:10958763|PMID:11385708|PMID:11702214|PMID:12192456|PMID:16303926|PMID:17576681|PMID:18285826|PMID:18854780|PMID:19074458|PMID:24033266|PMID:24265693|PMID:25741868|PMID:26872967|PMID:28041643|PMID:28118664|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29555955|PMID:29854428|PMID:29925512|PMID:30093795|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:33302505|PMID:33546218|PMID:33706644|PMID:34327195|PMID:34758253|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35836572|PMID:36209838|PMID:36460718|PMID:36471740|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9003507	Premature Birth		ISO	RGD:1319792	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:10413692|PMID:10958763|PMID:11702214|PMID:12192456|PMID:16303926|PMID:17576681|PMID:18285826|PMID:18854780|PMID:19074458|PMID:24033266|PMID:24265693|PMID:25741868|PMID:26872967|PMID:28118664|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29555955|PMID:29854428|PMID:29925512|PMID:30093795|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:33302505|PMID:33546218|PMID:33706644|PMID:34327195|PMID:34758253|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35836572|PMID:36209838|PMID:36460718|PMID:36471740|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9003674	Chest Pain		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chest pain	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:10958761|PMID:23769331|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:26872967|PMID:28492532
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9004751	Nausea		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nausea	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9004866	Ataxia		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9005077	Joint Instability		ISO	RGD:1319792	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:10413692|PMID:10958763|PMID:11702214|PMID:12192456|PMID:16303926|PMID:17576681|PMID:18285826|PMID:18854780|PMID:19074458|PMID:24033266|PMID:24265693|PMID:25741868|PMID:26872967|PMID:28118664|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29555955|PMID:29854428|PMID:29925512|PMID:30093795|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:33302505|PMID:33546218|PMID:33706644|PMID:34327195|PMID:34758253|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35836572|PMID:36209838|PMID:36460718|PMID:36471740|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:10413692|PMID:10958761|PMID:10958763|PMID:11702214|PMID:12192456|PMID:12796258|PMID:16303926|PMID:17576681|PMID:18285826|PMID:18854780|PMID:19074458|PMID:22968130|PMID:23134348|PMID:24033266|PMID:24265693|PMID:24938718|PMID:25312043|PMID:25525159|PMID:25741868|PMID:26780318|PMID:26872967|PMID:28041643|PMID:28118664|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29555955|PMID:29854428|PMID:29925512|PMID:30093795|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31589614|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:33302505|PMID:33546218|PMID:33706644|PMID:33749171|PMID:34327195|PMID:34758253|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35456422|PMID:35836572|PMID:36209838|PMID:36460718|PMID:36471740|PMID:36819107|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10413692|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11702214|PMID:12192456|PMID:16303926|PMID:17576681|PMID:18285826|PMID:18854780|PMID:19074458|PMID:22968130|PMID:23134348|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24265693|PMID:24713488|PMID:24938718|PMID:25312043|PMID:25525159|PMID:25741868|PMID:26780318|PMID:26872967|PMID:28041643|PMID:28118664|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29854428|PMID:29925512|PMID:30093795|PMID:30609409|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31589614|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32810830|PMID:32815999|PMID:32845050|PMID:33302505|PMID:33546218|PMID:33706644|PMID:33749171|PMID:34327195|PMID:34758253|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35456422|PMID:35836572|PMID:36209838|PMID:36460718|PMID:36471740|PMID:36672815|PMID:36819107|PMID:9054934|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:10413692|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11702214|PMID:12192456|PMID:16303926|PMID:17576681|PMID:18285826|PMID:18854780|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24265693|PMID:24713488|PMID:25741868|PMID:26872967|PMID:28118664|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29854428|PMID:29925512|PMID:30093795|PMID:30609409|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32810830|PMID:32815999|PMID:32845050|PMID:33302505|PMID:33546218|PMID:33706644|PMID:34327195|PMID:34758253|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35456422|PMID:35836572|PMID:36209838|PMID:36460718|PMID:36471740|PMID:36672815|PMID:9054934|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9006597	Retinal Dysplasia		ISO	RGD:1319792	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal dysplasia	PMID:10090887|PMID:10612508|PMID:10634594|PMID:11017087|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:18285826|PMID:18977788|PMID:20981092|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:28041643|PMID:28044389|PMID:28341476|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29431110|PMID:29555955|PMID:29925512|PMID:3002862|PMID:30215852|PMID:30609409|PMID:30643219|PMID:30670881|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32815999|PMID:32845050|PMID:32913387|PMID:33706644|PMID:34426522|PMID:34570182|PMID:34906470|PMID:35076026|PMID:35119454|PMID:35657619|PMID:35753512|PMID:35886001|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9006846	Dysuria		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysuria	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:22449572|PMID:25066811|PMID:25474345|PMID:25741868|PMID:26780318|PMID:28492532
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9007402	Gliosis		ISO	RGD:1319792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9007923	Back Pain		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Back pain	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9008023	Memory Disorders		ISO	RGD:1319792	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:10413692|PMID:10958763|PMID:11702214|PMID:12192456|PMID:16303926|PMID:17576681|PMID:18285826|PMID:18854780|PMID:19074458|PMID:24033266|PMID:24265693|PMID:25741868|PMID:26872967|PMID:28118664|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29555955|PMID:29854428|PMID:29925512|PMID:30093795|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:33302505|PMID:33546218|PMID:33706644|PMID:34327195|PMID:34758253|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35836572|PMID:36209838|PMID:36460718|PMID:36471740|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10958761|PMID:16546111|PMID:22589445|PMID:23755871|PMID:24938718|PMID:25312043|PMID:25525159|PMID:25544989|PMID:25741868|PMID:26247787|PMID:26780318|PMID:28492532|PMID:28947085|PMID:29186038|PMID:29641573|PMID:29925512|PMID:30093795|PMID:30718709|PMID:31964843|PMID:32090030|PMID:32307445|PMID:32581362|PMID:32619608|PMID:33090715|PMID:33301772|PMID:33546218|PMID:33691693|PMID:34758253|PMID:35076026|PMID:35119454|PMID:35260635|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:10958761|PMID:10958763|PMID:11017087|PMID:11527935|PMID:12037008|PMID:12796258|PMID:16103129|PMID:16303926|PMID:16546111|PMID:16896346|PMID:18161617|PMID:18285826|PMID:19074458|PMID:19217903|PMID:19265867|PMID:20696155|PMID:21786275|PMID:22025579|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22589445|PMID:22661473|PMID:23755871|PMID:23769331|PMID:24033266|PMID:24265693|PMID:24453473|PMID:24938718|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25312043|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25921964|PMID:25922843|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26780318|PMID:27535533|PMID:27775217|PMID:27884173|PMID:28041643|PMID:28118664|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28446513|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28571903|PMID:28611652|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29186038|PMID:29555955|PMID:29641573|PMID:29765157|PMID:29769798|PMID:29847635|PMID:29925512|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30156925|PMID:30204727|PMID:30576320|PMID:30609409|PMID:30718709|PMID:30924848|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31573552|PMID:31589614|PMID:31725702|PMID:31814694|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32141364|PMID:32307445|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:32845050|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33258285|PMID:33301772|PMID:33302505|PMID:33546218|PMID:33691693|PMID:33706644|PMID:33749171|PMID:33909047|PMID:33988224|PMID:34008892|PMID:34315337|PMID:34327195|PMID:34426522|PMID:34758253|PMID:34874912|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35120629|PMID:35194496|PMID:35260635|PMID:35456422|PMID:35656873|PMID:35836572|PMID:36338671|PMID:36460718|PMID:36672815|PMID:36819107|PMID:36909829|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319792	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9008520	Chronic Pain		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic pain	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9008818	Retinal Dystrophy, Early Onset Severe		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe	PMID:10958761|PMID:16546111|PMID:22589445|PMID:23755871|PMID:24938718|PMID:25312043|PMID:25525159|PMID:25544989|PMID:25741868|PMID:26247787|PMID:26780318|PMID:28492532|PMID:28947085|PMID:29186038|PMID:29641573|PMID:29925512|PMID:30093795|PMID:30718709|PMID:31964843|PMID:32090030|PMID:32307445|PMID:32581362|PMID:32619608|PMID:33090715|PMID:33301772|PMID:33546218|PMID:33691693|PMID:34758253|PMID:35076026|PMID:35119454|PMID:35260635|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9973280
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319792	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10090887|PMID:10612508|PMID:10634594|PMID:11017087|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:18285826|PMID:18977788|PMID:20981092|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:28041643|PMID:28044389|PMID:28341476|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29431110|PMID:29555955|PMID:29925512|PMID:3002862|PMID:30215852|PMID:30609409|PMID:30643219|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32815999|PMID:32845050|PMID:32913387|PMID:33706644|PMID:34426522|PMID:34570182|PMID:34906470|PMID:35076026|PMID:35119454|PMID:35657619|PMID:35753512|PMID:35886001|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319792	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:10090887|PMID:10612508|PMID:10634594|PMID:11017087|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:18285826|PMID:18977788|PMID:20981092|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:28041643|PMID:28044389|PMID:28341476|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29310964|PMID:29431110|PMID:29555955|PMID:29925512|PMID:3002862|PMID:30215852|PMID:30609409|PMID:30643219|PMID:30670881|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32278709|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32815999|PMID:32845050|PMID:32913387|PMID:33706644|PMID:34426522|PMID:34570182|PMID:34906470|PMID:35076026|PMID:35119454|PMID:35657619|PMID:35753512|PMID:35886001|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9296	cleft lip		ISO	RGD:1319792	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20436469
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9335	scotoma		ISO	RGD:1319792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Central scotoma	PMID:10958763|PMID:11702214|PMID:15192030|PMID:25741868|PMID:28492532
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9402	epididymitis		ISO	RGD:1319792	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epididymitis	PMID:11017087|PMID:11123914|PMID:19074458|PMID:23695285|PMID:23769331|PMID:24033266|PMID:24713488|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30093795|PMID:30609409|PMID:31429209|PMID:31522899|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32531858|PMID:32810830|PMID:32845050|PMID:33546218|PMID:33706644|PMID:34795310|PMID:34946930|PMID:35076026|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36672815|PMID:9054934
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9834	hyperopia		ISO	RGD:1319792	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:22661472|PMID:25082885|PMID:25741868|PMID:28492532|PMID:32581362
1309445	Abca4	ATP binding cassette subfamily A member 4	gene	DOID:9970	obesity		ISO	RGD:1319792	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:10413692|PMID:10958763|PMID:11702214|PMID:12192456|PMID:16303926|PMID:17576681|PMID:18285826|PMID:18854780|PMID:19074458|PMID:24033266|PMID:24265693|PMID:25741868|PMID:26872967|PMID:28118664|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29555955|PMID:29854428|PMID:29925512|PMID:30093795|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32307445|PMID:32467599|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32783370|PMID:32815999|PMID:33302505|PMID:33546218|PMID:33706644|PMID:34327195|PMID:34758253|PMID:35076026|PMID:35119454|PMID:35260635|PMID:35836572|PMID:36209838|PMID:36460718|PMID:36471740|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9973280
1309446	Intu	inturned planar cell polarity protein	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:25741868|PMID:27158779|PMID:28492532|PMID:29068549
1309446	Intu	inturned planar cell polarity protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:0060959	orofaciodigital syndrome II		ISO	RGD:1319793	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mohr syndrome	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:0070309	absence epilepsy		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:0080289	orofaciodigital syndrome XVII		ISO	RGD:1319793	D	RGD:7240710	20190315	OMIM			
1309446	Intu	inturned planar cell polarity protein	gene	DOID:0080289	orofaciodigital syndrome XVII		ISO	RGD:1319793	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTU-related condition	PMID:25741868|PMID:28492532
1309446	Intu	inturned planar cell polarity protein	gene	DOID:12849	autistic disorder		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:1324	lung cancer		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:3275	thymoma		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:4362	cervical cancer		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:630	genetic disease		ISO	RGD:1319793	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309446	Intu	inturned planar cell polarity protein	gene	DOID:9002569	Overweight		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:9003056	Short-Rib Thoracic Dysplasia 20 with Polydactyly		ISO	RGD:1319793	D	RGD:7240710	20190315	OMIM			
1309446	Intu	inturned planar cell polarity protein	gene	DOID:9003056	Short-Rib Thoracic Dysplasia 20 with Polydactyly		ISO	RGD:1319793	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 20 with polydactyly	PMID:25741868|PMID:27158779|PMID:28492532
1309446	Intu	inturned planar cell polarity protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:9008675	Dyskinesias		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309446	Intu	inturned planar cell polarity protein	gene	DOID:936	brain disease		ISO	RGD:1319793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
1309447	Nptx2	neuronal pentraxin 2	gene	DOID:0060001	withdrawal disorder		ISO	RGD:1319794	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19084905
1309447	Nptx2	neuronal pentraxin 2	gene	DOID:1115	sarcoma		ISO	RGD:1319794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309447	Nptx2	neuronal pentraxin 2	gene	DOID:3070	high grade glioma		ISO	RGD:1319794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309447	Nptx2	neuronal pentraxin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309448	Ltbr	lymphotoxin beta receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309448	Ltbr	lymphotoxin beta receptor	gene	DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1		ISO	RGD:13832219	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1	PMID:25741868
1309448	Ltbr	lymphotoxin beta receptor	gene	DOID:10534	stomach cancer		ISO	RGD:1319795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309448	Ltbr	lymphotoxin beta receptor	gene	DOID:1115	sarcoma		ISO	RGD:1319795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309448	Ltbr	lymphotoxin beta receptor	gene	DOID:12365	malaria		ISO	RGD:1319795	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15788153
1309448	Ltbr	lymphotoxin beta receptor	gene	DOID:3275	thymoma		ISO	RGD:1319795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309448	Ltbr	lymphotoxin beta receptor	gene	DOID:4362	cervical cancer		ISO	RGD:1319795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309448	Ltbr	lymphotoxin beta receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:1319795	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309448	Ltbr	lymphotoxin beta receptor	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1319795	D	RGD:11554173	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
1309449	Rxfp2	relaxin family peptide receptor 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1319797	D	RGD:1600187|PMID:12217959	20070301	RGD		bilateral cryptorchidism, OMIM:219050	
1309449	Rxfp2	relaxin family peptide receptor 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1319797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:25741868
1309449	Rxfp2	relaxin family peptide receptor 2	gene	DOID:1923	disorder of sexual development		ISO	RGD:1319797	D	RGD:8554872	20210907	ClinVar		ClinVar Annotator: match by term: Disorder of sexual differentiation	
1309449	Rxfp2	relaxin family peptide receptor 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1319797	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3	
1309449	Rxfp2	relaxin family peptide receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309449	Rxfp2	relaxin family peptide receptor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:0060058	lymphoma		ISO	RGD:1603387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1603387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:1909	melanoma		ISO	RGD:1603387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:4362	cervical cancer		ISO	RGD:1603387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1603387	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309450	Ppp4r3b	protein phosphatase 4, regulatory subunit 3B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309451	Sec24a	SEC24 homolog A, COPII component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309451	Sec24a	SEC24 homolog A, COPII component	gene	DOID:10534	stomach cancer		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309451	Sec24a	SEC24 homolog A, COPII component	gene	DOID:1115	sarcoma		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309451	Sec24a	SEC24 homolog A, COPII component	gene	DOID:1324	lung cancer		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309451	Sec24a	SEC24 homolog A, COPII component	gene	DOID:1909	melanoma		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309451	Sec24a	SEC24 homolog A, COPII component	gene	DOID:3070	high grade glioma		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309451	Sec24a	SEC24 homolog A, COPII component	gene	DOID:318	progressive muscular atrophy		ISO	RGD:1319800	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Progressive spinal muscular atrophy	PMID:25741868
1309451	Sec24a	SEC24 homolog A, COPII component	gene	DOID:3275	thymoma		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309451	Sec24a	SEC24 homolog A, COPII component	gene	DOID:4362	cervical cancer		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309451	Sec24a	SEC24 homolog A, COPII component	gene	DOID:5041	esophageal cancer		ISO	RGD:1319800	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309451	Sec24a	SEC24 homolog A, COPII component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309451	Sec24a	SEC24 homolog A, COPII component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309451	Sec24a	SEC24 homolog A, COPII component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309451	Sec24a	SEC24 homolog A, COPII component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309452	Nipal4	NIPA-like domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2306343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309452	Nipal4	NIPA-like domain containing 4	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:2306343	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:15317751|PMID:17557927|PMID:22098531|PMID:25741868|PMID:27025581|PMID:33786896
1309452	Nipal4	NIPA-like domain containing 4	gene	DOID:0060715	autosomal recessive congenital ichthyosis 6		ISO	RGD:2306343	D	RGD:7240710	20130221	OMIM			
1309452	Nipal4	NIPA-like domain containing 4	gene	DOID:0060715	autosomal recessive congenital ichthyosis 6		ISO	RGD:2306343	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: NIPAL4-related condition	PMID:15317751|PMID:17557927|PMID:17576681|PMID:22098531|PMID:24397709|PMID:25741868|PMID:27025581|PMID:28492532|PMID:31347739|PMID:33786896|PMID:9536098
1309452	Nipal4	NIPA-like domain containing 4	gene	DOID:0111195	erythrokeratodermia variabilis et progressiva 1		ISO	RGD:2306343	D	RGD:8554872	20210810	ClinVar		ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	
1309452	Nipal4	NIPA-like domain containing 4	gene	DOID:1697	ichthyosis		ISO	RGD:2306343	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:15317751|PMID:22098531|PMID:25741868|PMID:27025581
1309452	Nipal4	NIPA-like domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:2306343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309452	Nipal4	NIPA-like domain containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2306343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309452	Nipal4	NIPA-like domain containing 4	gene	DOID:630	genetic disease		ISO	RGD:2306343	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309452	Nipal4	NIPA-like domain containing 4	gene	DOID:848	arthritis		ISO	RGD:2306343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: arthritis	PMID:25741868
1309452	Nipal4	NIPA-like domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2306343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309453	Lrrc71	leucine rich repeat containing 71	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309453	Lrrc71	leucine rich repeat containing 71	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309453	Lrrc71	leucine rich repeat containing 71	gene	DOID:1115	sarcoma		ISO	RGD:1601719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309453	Lrrc71	leucine rich repeat containing 71	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309453	Lrrc71	leucine rich repeat containing 71	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309455	Stk38	serine/threonine kinase 38	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309455	Stk38	serine/threonine kinase 38	gene	DOID:1115	sarcoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309455	Stk38	serine/threonine kinase 38	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319806	D	RGD:8554872	20191008	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
1309455	Stk38	serine/threonine kinase 38	gene	DOID:1909	melanoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309455	Stk38	serine/threonine kinase 38	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309455	Stk38	serine/threonine kinase 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309455	Stk38	serine/threonine kinase 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309455	Stk38	serine/threonine kinase 38	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:11714	gestational diabetes		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:3275	thymoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:540	strabismus		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:83	cataract		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9002969	Nevus		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9003132	Sialorrhea		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9003507	Premature Birth		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9005120	Pigmented Nevus		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanocytic nevus	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9005811	HUPRA Syndrome		ISO	RGD:1319808	D	RGD:41410777|PMID:21255763	20210212	RGD		DNA:missense mutation:CDS:p.D390G (human)	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9005811	HUPRA Syndrome		ISO	RGD:1319808	D	RGD:7240710	20140911	OMIM			
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9005811	HUPRA Syndrome		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME | ClinVar Annotator: match by term: SARS2-related condition	PMID:17576681|PMID:21255763|PMID:24034276|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:33751860|PMID:33972171|PMID:34407605|PMID:38326069|PMID:9536098
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309456	Sars2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9007661	Dwarfism		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1309457	Med31	mediator complex subunit 31	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309457	Med31	mediator complex subunit 31	gene	DOID:1909	melanoma		ISO	RGD:1343042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309457	Med31	mediator complex subunit 31	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309457	Med31	mediator complex subunit 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309457	Med31	mediator complex subunit 31	gene	DOID:6039	uveal melanoma		ISO	RGD:1343042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309457	Med31	mediator complex subunit 31	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISS	RGD:1551620	D	RGD:13592920	20210401	MouseDO		OMIM:613282 | OMIM:613387	
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:0080600	COVID-19		ISO	RGD:1345617	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:10534	stomach cancer		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:1324	lung cancer		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:1909	melanoma		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:3070	high grade glioma		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345617	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1345617	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345617	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:38193334
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1345617	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309458	Aldh1l2	aldehyde dehydrogenase 1 family, member L2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:0050651	atrioventricular septal defect		ISS	RGD:1319811	D	RGD:13592920	20220602	MouseDO		OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474	
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:0080216	duodenal atresia		ISO	RGD:1606767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duodenal atresia	PMID:25741868
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1606767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:11914	gastroparesis		ISO	RGD:1606767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroparesis	PMID:25741868
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:1909	melanoma		ISO	RGD:1606767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:3275	thymoma		ISO	RGD:1606767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1606767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1606767	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309459	Glyr1	glyoxylate reductase 1 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309460	Rig1	RNA sensor RIG-1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1309460	Rig1	RNA sensor RIG-1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309460	Rig1	RNA sensor RIG-1	gene	DOID:10534	stomach cancer		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309460	Rig1	RNA sensor RIG-1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309460	Rig1	RNA sensor RIG-1	gene	DOID:1115	sarcoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309460	Rig1	RNA sensor RIG-1	gene	DOID:1324	lung cancer		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1309460	Rig1	RNA sensor RIG-1	gene	DOID:1883	hepatitis C		ISO	RGD:1319812	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20170495
1309460	Rig1	RNA sensor RIG-1	gene	DOID:1909	melanoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1309460	Rig1	RNA sensor RIG-1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309460	Rig1	RNA sensor RIG-1	gene	DOID:2365	West Nile encephalitis		ISO	RGD:1319813	D	RGD:126781836|PMID:24173226	20210421	RGD		mRNA:increased expression:brain	
1309460	Rig1	RNA sensor RIG-1	gene	DOID:3070	high grade glioma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309460	Rig1	RNA sensor RIG-1	gene	DOID:3275	thymoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309460	Rig1	RNA sensor RIG-1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309460	Rig1	RNA sensor RIG-1	gene	DOID:4362	cervical cancer		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1309460	Rig1	RNA sensor RIG-1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1309460	Rig1	RNA sensor RIG-1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1309460	Rig1	RNA sensor RIG-1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319812	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309460	Rig1	RNA sensor RIG-1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309460	Rig1	RNA sensor RIG-1	gene	DOID:630	genetic disease		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309460	Rig1	RNA sensor RIG-1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1309460	Rig1	RNA sensor RIG-1	gene	DOID:8893	psoriasis		ISO	RGD:1319812	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143594
1309460	Rig1	RNA sensor RIG-1	gene	DOID:9000371	influenza A		ISO	RGD:1319813	D	RGD:9068941	20210122	RGD		mRNA:increased expression:nasal cavity mucosa (mouse)	PMID:25751630|REF_RGD_ID:40925925
1309460	Rig1	RNA sensor RIG-1	gene	DOID:9000918	Disease Progression		ISO	RGD:1319812	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20170495
1309460	Rig1	RNA sensor RIG-1	gene	DOID:9001488	Human Influenza		ISO	RGD:1319812	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1309460	Rig1	RNA sensor RIG-1	gene	DOID:9001499	Orthomyxoviridae Infections		ISO	RGD:1319812	D	RGD:11554173	20221004	CTD		CTD Direct Evidence: marker/mechanism	PMID:25780039
1309460	Rig1	RNA sensor RIG-1	gene	DOID:9002133	Singleton-Merten Syndrome 2		ISO	RGD:1319812	D	RGD:7240710	20170412	OMIM			
1309460	Rig1	RNA sensor RIG-1	gene	DOID:9002133	Singleton-Merten Syndrome 2		ISO	RGD:1319812	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RIGI-related condition | ClinVar Annotator: match by term: SINGLETON-MERTEN SYNDROME 2 | ClinVar Annotator: match by term: Singleton-Merten syndrome 2	PMID:19859543|PMID:25741868|PMID:28180316|PMID:28492532|PMID:36228008
1309460	Rig1	RNA sensor RIG-1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1309460	Rig1	RNA sensor RIG-1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309460	Rig1	RNA sensor RIG-1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0060058	lymphoma		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0060260	ptosis		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0060308	autosomal recessive intellectual developmental disorder		ISO	RGD:1605926	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability	
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0070297	primary microcephaly		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:28492532|PMID:29187737
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0081098	autosomal recessive intellectual developmental disorder 13		ISO	RGD:1605926	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0081098	autosomal recessive intellectual developmental disorder 13		ISO	RGD:1605926	D	RGD:7240710	20130221	OMIM			
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:0081098	autosomal recessive intellectual developmental disorder 13		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 13 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 13 | ClinVar Annotator: match by term: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | ClinVar Annotator: match by term: TRAPPC9-related condition	PMID:18414213|PMID:2000476|PMID:20004763|PMID:20004764|PMID:20004765|PMID:25741868|PMID:28440294|PMID:28492532|PMID:28940097|PMID:29187737|PMID:33513295|PMID:33767182
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:10534	stomach cancer		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1605926	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome	PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1605926	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome	PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29610177
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29187737|PMID:33403770
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29187737
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1059	intellectual disability		ISS	RGD:1319814	D	RGD:13592920	20210617	MouseDO			
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1115	sarcoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:12849	autistic disorder		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:28492532|PMID:29187737
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1324	lung cancer		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1826	epilepsy		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:28492532|PMID:29187737
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1827	generalized epilepsy		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:1909	melanoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:3275	thymoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:4362	cervical cancer		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1605926	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:5419	schizophrenia		ISO	RGD:1605926	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:630	genetic disease		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29187737|PMID:35042660
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:28492532|PMID:28940097
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9007661	Dwarfism		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1309461	Trappc9	trafficking protein particle complex subunit 9	gene	DOID:9834	hyperopia		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:0070309	absence epilepsy		ISO	RGD:1604246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:22499348|PMID:23499752|PMID:24461907|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:30369941|PMID:30911575|PMID:32577402
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:0111491	combined oxidative phosphorylation deficiency 15		ISO	RGD:1604246	D	RGD:7240710	20140903	OMIM			
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:0111491	combined oxidative phosphorylation deficiency 15		ISO	RGD:1604246	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 15 | ClinVar Annotator: match by term: MTFMT-Related Disorders | ClinVar Annotator: match by term: MTFMT-related condition	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25326637|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:32577402|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:0112090	nuclear type mitochondrial complex I deficiency 27		ISO	RGD:1604246	D	RGD:7240710	20190315	OMIM			
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:0112090	nuclear type mitochondrial complex I deficiency 27		ISO	RGD:1604246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 27	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:32577402|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:10376	amblyopia		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomach cancer	
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1604246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:32577402|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:10907	microcephaly		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:10908	hydrocephalus		ISO	RGD:1604246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:22499348|PMID:23499752|PMID:24461907|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:30369941|PMID:30911575|PMID:32577402
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:13620	patent foramen ovale		ISO	RGD:1604246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:22499348|PMID:23499752|PMID:24461907|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:30369941|PMID:30911575|PMID:32577402
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1604246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:32577402|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1604246	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1604246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:32577402|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:3652	Leigh disease		ISO	RGD:1604246	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:4667	kyphosis		ISO	RGD:1604246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:22499348|PMID:23499752|PMID:24461907|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:30369941|PMID:30911575|PMID:32577402
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:480	movement disease		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:535	sleep disorder		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1604246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:32577402|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial encephalomyopathy	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9000750	Waardenburg Syndrome Type 2F		ISO	RGD:1604246	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Waardenburg syndrome 2F	PMID:25741868|PMID:38703036
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9001581	Constipation		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9003163	Heart Block		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Conduction disorder of the heart	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9004507	Hirsutism		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9005077	Joint Instability		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exercise intolerance	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9007661	Dwarfism		ISO	RGD:1604246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:32577402|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:32577402|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9008811	Tachypnea		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1604246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:22499348|PMID:23499752|PMID:24461907|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:30369941|PMID:30911575|PMID:32577402
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9296	cleft lip		ISO	RGD:1604246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:22499348|PMID:23499752|PMID:24461907|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:30369941|PMID:30911575|PMID:32577402
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9834	hyperopia		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309462	Mtfmt	mitochondrial methionyl-tRNA formyltransferase	gene	DOID:9840	esotropia		ISO	RGD:1604246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30569017|PMID:30911575|PMID:33146414|PMID:33511646|PMID:34732400|PMID:36704074|PMID:36873085
1309463	Slc35c1	solute carrier family 35 member C1	gene	DOID:0060260	ptosis		ISO	RGD:1319816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1309463	Slc35c1	solute carrier family 35 member C1	gene	DOID:0070255	congenital disorder of glycosylation type IIc		ISO	RGD:1319816	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1309463	Slc35c1	solute carrier family 35 member C1	gene	DOID:0070255	congenital disorder of glycosylation type IIc		ISO	RGD:1319816	D	RGD:1599002|PMID:11326280	20070111	RGD		DNA:missense mutations:cds:p.R147C, p.T308R (human)	
1309463	Slc35c1	solute carrier family 35 member C1	gene	DOID:0070255	congenital disorder of glycosylation type IIc		ISO	RGD:1319816	D	RGD:7240710	20130221	OMIM			
1309463	Slc35c1	solute carrier family 35 member C1	gene	DOID:0070255	congenital disorder of glycosylation type IIc		ISO	RGD:1319816	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2C | ClinVar Annotator: match by term: Rambam Hasharon syndrome | ClinVar Annotator: match by term: SLC35C1-related condition	PMID:11326279|PMID:11326280|PMID:16455955|PMID:23806237|PMID:24033266|PMID:24403049|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29030401|PMID:32313197|PMID:33144682|PMID:33413482|PMID:35338746
1309463	Slc35c1	solute carrier family 35 member C1	gene	DOID:0070255	congenital disorder of glycosylation type IIc		ISS	RGD:1617366	D	RGD:13592920	20230718	MouseDO		OMIM:266265	
1309463	Slc35c1	solute carrier family 35 member C1	gene	DOID:10283	prostate cancer		ISO	RGD:1319816	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309463	Slc35c1	solute carrier family 35 member C1	gene	DOID:10283	prostate cancer		ISO	RGD:1319816	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309463	Slc35c1	solute carrier family 35 member C1	gene	DOID:1459	hypothyroidism		ISO	RGD:1319816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
1309463	Slc35c1	solute carrier family 35 member C1	gene	DOID:1909	melanoma		ISO	RGD:1319816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309463	Slc35c1	solute carrier family 35 member C1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309463	Slc35c1	solute carrier family 35 member C1	gene	DOID:630	genetic disease		ISO	RGD:1319816	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309463	Slc35c1	solute carrier family 35 member C1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309465	Exo1	exonuclease 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309465	Exo1	exonuclease 1	gene	DOID:0080600	COVID-19		ISO	RGD:1319820	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309465	Exo1	exonuclease 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309465	Exo1	exonuclease 1	gene	DOID:1324	lung cancer		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1309465	Exo1	exonuclease 1	gene	DOID:1612	breast cancer		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868
1309465	Exo1	exonuclease 1	gene	DOID:1909	melanoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1309465	Exo1	exonuclease 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1309465	Exo1	exonuclease 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:28492532
1309465	Exo1	exonuclease 1	gene	DOID:3275	thymoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309465	Exo1	exonuclease 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309465	Exo1	exonuclease 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1309465	Exo1	exonuclease 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1309465	Exo1	exonuclease 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1309465	Exo1	exonuclease 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1319820	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
1309465	Exo1	exonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1309465	Exo1	exonuclease 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309465	Exo1	exonuclease 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:28492532
1309465	Exo1	exonuclease 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319820	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1309465	Exo1	exonuclease 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309465	Exo1	exonuclease 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309465	Exo1	exonuclease 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319820	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17656264
1309465	Exo1	exonuclease 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319820	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25751625
1309465	Exo1	exonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1309465	Exo1	exonuclease 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1309465	Exo1	exonuclease 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1309466	Lrrc49	leucine rich repeat containing 49	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309466	Lrrc49	leucine rich repeat containing 49	gene	DOID:10534	stomach cancer		ISO	RGD:1606554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309466	Lrrc49	leucine rich repeat containing 49	gene	DOID:1115	sarcoma		ISO	RGD:1606554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309466	Lrrc49	leucine rich repeat containing 49	gene	DOID:1324	lung cancer		ISO	RGD:1606554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309466	Lrrc49	leucine rich repeat containing 49	gene	DOID:4362	cervical cancer		ISO	RGD:1606554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309466	Lrrc49	leucine rich repeat containing 49	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309466	Lrrc49	leucine rich repeat containing 49	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:0040085	bacterial sepsis	ameliorates	IDA		D	RGD:127229902|PMID:16960786	20210610	RGD		associated with bacterial pneumonia	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:0040085	bacterial sepsis	exacerbates	ISO	RGD:1319824	D	RGD:126928125|PMID:17230441	20210526	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:0040085	bacterial sepsis	treatment	ISO	RGD:1319823	D	RGD:126925982|PMID:21507332	20210525	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:0050211	swine influenza	severity	ISO	RGD:1319824	D	RGD:126925972|PMID:24453980	20210524	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:0050697	chorioamnionitis		ISO	RGD:1319823	D	RGD:127229904|PMID:19591072	20210602	RGD		associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid:	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:0060180	colitis	severity	ISO	RGD:1319824	D	RGD:126925972|PMID:24453980	20210524	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:1002	endometritis	ameliorates	ISO	RGD:1319824	D	RGD:126928127|PMID:31365951	20210526	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:12365	malaria	severity	ISO	RGD:1319823	D	RGD:126848795|PMID:27671831	20210503	RGD		DNA:SNP: :rs2234237A>T (human)	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:13252	mesenteric vascular occlusion	ameliorates	IDA		D	RGD:127284848|PMID:18091551	20210610	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:13272	Klebsiella pneumonia	disease_progression	ISO	RGD:1319824	D	RGD:126925976|PMID:24396044	20210524	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1319823	D	RGD:126848796|PMID:24465168	20210503	RGD		mRNA:decreased expression:polymorphonuclear leukocyte	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:1596	depressive disorder	treatment	IEP		D	RGD:127284856|PMID:32009956	20210611	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:1883	hepatitis C		ISO	RGD:1319823	D	RGD:126925974|PMID:27328755	20210524	RGD		protein:increased expression:plasma	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:1884	viral hepatitis	disease_progression	ISO	RGD:1319824	D	RGD:126925974|PMID:27328755	20210524	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:2043	hepatitis B		ISO	RGD:1319823	D	RGD:126925974|PMID:27328755	20210524	RGD		protein:increased expression:plasma	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:2913	acute pancreatitis	ameliorates	IDA		D	RGD:127284839|PMID:19787284	20210609	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:2913	acute pancreatitis	severity	ISO	RGD:1319824	D	RGD:11522077|PMID:26250893	20210526	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:2957	pulmonary tuberculosis	disease_progression	ISO	RGD:1319823	D	RGD:126925977|PMID:29844416	20210524	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:3275	thymoma		ISO	RGD:1319823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:3525	middle cerebral artery infarction	ameliorates	IDA		D	RGD:127284860|PMID:32736673	20210611	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:3798	pleural empyema	treatment	IDA		D	RGD:127284851|PMID:20819512	20210610	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:4033	bacterial gastritis		ISO	RGD:1319823	D	RGD:126928123|PMID:18321350	20210526	RGD		mRNA,protein:increased expression:gastric epithelium	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:409	liver disease		ISO	RGD:1319823	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12651611
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:5052	melioidosis		ISO	RGD:1319824	D	RGD:126928120|PMID:18008257	20210526	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:5052	melioidosis	severity	ISO	RGD:1319823	D	RGD:126928120|PMID:18008257	20210526	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:5052	melioidosis	treatment	ISO	RGD:1319824	D	RGD:126928120|PMID:18008257	20210526	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1319823	D	RGD:126925971|PMID:31260499	20210524	RGD		mRNA,protein:increased expression:peripheral blood mononuclear cell, macrophage, plasma	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:5844	myocardial infarction	ameliorates	IMP		D	RGD:127284842|PMID:25840803	20210609	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:1319824	D	RGD:127284842|PMID:25840803	20210609	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:5844	myocardial infarction	disease_progression	ISO	RGD:1319823	D	RGD:127284842|PMID:25840803	20210609	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:7148	rheumatoid arthritis	treatment	IEP		D	RGD:127229930|PMID:27049384	20210603	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:824	periodontitis		IEP		D	RGD:127284858|PMID:29972971	20210611	RGD		mRNA,protein:increased expression:periodontium	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:874	bacterial pneumonia	ameliorates	IDA		D	RGD:127229902|PMID:16960786	20210610	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:1319823	D	RGD:126848796|PMID:24465168	20210503	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:1319823	D	RGD:126925987|PMID:22996209	20210525	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9000438	Subarachnoid Hemorrhage	severity	ISO	RGD:1319823	D	RGD:127284864|PMID:33727099	20210611	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	IEP		D	RGD:127284863|PMID:30910643	20210611	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9001708	Hemorrhagic Shock	ameliorates	IDA		D	RGD:127284838|PMID:19333144	20210609	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:1319824	D	RGD:126928121|PMID:24752755	20210526	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002106	Pneumococcal Pneumonia	ameliorates	ISO	RGD:1319824	D	RGD:127229903|PMID:19596984	20210602	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1319823	D	RGD:127229931|PMID:30478987	20210603	RGD		protein:increased expression:kidney interstitium	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	IEP		D	RGD:127229931|PMID:30478987	20210603	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	IEP		D	RGD:127284861|PMID:29331667	20210611	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002224	Rotator Cuff Injuries		IEP		D	RGD:127284862|PMID:29891998	20210611	RGD		protein:increased expression:tendon:	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002668	Liver Abscess	severity	ISO	RGD:1319824	D	RGD:126925976|PMID:24396044	20210524	RGD		associated with Klebsiella pneumonia	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002869	Schistosomiasis Mansoni		ISO	RGD:1319824	D	RGD:126925988|PMID:21332515	20210525	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004055	Fungal Keratitis		ISO	RGD:1319823	D	RGD:11526921|PMID:26963514	20210525	RGD		mRNA:increased expression:cornea	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004055	Fungal Keratitis		ISO	RGD:1319824	D	RGD:11526921|PMID:26963514	20210525	RGD		mRNA:increased expression:cornea	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004055	Fungal Keratitis	treatment	ISO	RGD:1319824	D	RGD:11526921|PMID:26963514	20210525	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004484	Sepsis		ISO	RGD:1319823	D	RGD:126925987|PMID:22996209	20210525	RGD		mRNA:decreased expression:polymorph nuclear cell:	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1319823	D	RGD:126925981|PMID:22809118	20210525	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004484	Sepsis	treatment	IEP		D	RGD:127284847|PMID:22147417	20210610	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004610	Acute Lung Injury	ameliorates	IDA		D	RGD:127284840|PMID:26832696	20210609	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004610	Acute Lung Injury	exacerbates	IMP		D	RGD:127284840|PMID:26832696	20210609	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:1319823	D	RGD:126928122|PMID:15585833	20210526	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:1319824	D	RGD:126925982|PMID:21507332	20210525	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9006647	Experimental Autoimmune Neuritis		IEP		D	RGD:127284841|PMID:28260057	20210609	RGD		mRNA:increased expression:sciatic nerve,peripheral blood mononuclar cell	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9006647	Experimental Autoimmune Neuritis	ameliorates	IDA		D	RGD:127284841|PMID:28260057	20210609	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9007755	Intestinal Reperfusion Injury	ameliorates	IDA		D	RGD:127284848|PMID:18091551	20210610	RGD		associated with mesenteric vascular occlusion;	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9008067	Toxemia	ameliorates	ISO	RGD:1319824	D	RGD:126928125|PMID:17230441	20210609	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9065	leishmaniasis	severity	ISO	RGD:1319824	D	RGD:126925972|PMID:24453980	20210524	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9120	amyloidosis		ISO	RGD:1319823	D	RGD:127229901|PMID:31474164	20210602	RGD		associated with familial Mediterranean fever;protein:increased expression:serum:	
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9415	allergic asthma		ISO	RGD:1319824	D	RGD:126928124|PMID:21592044	20210526	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9415	allergic asthma	exacerbates	ISO	RGD:1319824	D	RGD:126928124|PMID:21592044	20210526	RGD			
1309467	Trem1	triggering receptor expressed on myeloid cells 1	gene	DOID:9470	bacterial meningitis	disease_progression	ISO	RGD:1319823	D	RGD:126928126|PMID:16786330	20210526	RGD			
1309468	Top3b	DNA topoisomerase III beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309468	Top3b	DNA topoisomerase III beta	gene	DOID:10534	stomach cancer		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309468	Top3b	DNA topoisomerase III beta	gene	DOID:1909	melanoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309468	Top3b	DNA topoisomerase III beta	gene	DOID:3275	thymoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309468	Top3b	DNA topoisomerase III beta	gene	DOID:4362	cervical cancer		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309468	Top3b	DNA topoisomerase III beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309468	Top3b	DNA topoisomerase III beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1319825	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309468	Top3b	DNA topoisomerase III beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309468	Top3b	DNA topoisomerase III beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309468	Top3b	DNA topoisomerase III beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309468	Top3b	DNA topoisomerase III beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309470	Sesn3	sestrin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309470	Sesn3	sestrin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309470	Sesn3	sestrin 3	gene	DOID:1115	sarcoma		ISO	RGD:1319828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309470	Sesn3	sestrin 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309470	Sesn3	sestrin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319828	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309470	Sesn3	sestrin 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309470	Sesn3	sestrin 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319828	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
1309470	Sesn3	sestrin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309471	Ubxn1	UBX domain protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309471	Ubxn1	UBX domain protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309471	Ubxn1	UBX domain protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309471	Ubxn1	UBX domain protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309471	Ubxn1	UBX domain protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1606294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309471	Ubxn1	UBX domain protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309471	Ubxn1	UBX domain protein 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606294	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1309471	Ubxn1	UBX domain protein 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1606294	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1309471	Ubxn1	UBX domain protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309471	Ubxn1	UBX domain protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309472	Slc46a1	solute carrier family 46 member 1	gene	DOID:0111678	hereditary folate malabsorption		ISO	RGD:1606750	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:21346251
1309472	Slc46a1	solute carrier family 46 member 1	gene	DOID:0111678	hereditary folate malabsorption		ISO	RGD:1606750	D	RGD:7240710	20130221	OMIM			
1309472	Slc46a1	solute carrier family 46 member 1	gene	DOID:0111678	hereditary folate malabsorption		ISO	RGD:1606750	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar Annotator: match by term: FOLATE MALABSORPTION, HEREDITARY | ClinVar Annotator: match by term: SLC46A1-related condition	PMID:17446347|PMID:19176287|PMID:20301716|PMID:21333572|PMID:21602279|PMID:22843796|PMID:24534056|PMID:25741868|PMID:28492532
1309472	Slc46a1	solute carrier family 46 member 1	gene	DOID:12450	pancytopenia		ISO	RGD:1606750	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21346251
1309472	Slc46a1	solute carrier family 46 member 1	gene	DOID:2355	anemia		ISO	RGD:1606750	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21346251
1309472	Slc46a1	solute carrier family 46 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309472	Slc46a1	solute carrier family 46 member 1	gene	DOID:630	genetic disease		ISO	RGD:1606750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309472	Slc46a1	solute carrier family 46 member 1	gene	DOID:784	chronic kidney disease		IEP		D	RGD:7327184|PMID:21149507	20130913	RGD		mRNA:decreased expression:liver, heart, jejunum (rat)	
1309472	Slc46a1	solute carrier family 46 member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606750	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309472	Slc46a1	solute carrier family 46 member 1	gene	DOID:9002984	Malabsorption Syndromes		ISO	RGD:1606750	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17129779|PMID:17446347
1309472	Slc46a1	solute carrier family 46 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309472	Slc46a1	solute carrier family 46 member 1	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:1606750	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19204075
1309474	Glb1l	galactosidase, beta 1-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309474	Glb1l	galactosidase, beta 1-like	gene	DOID:1909	melanoma		ISO	RGD:1319832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309474	Glb1l	galactosidase, beta 1-like	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1319832	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1309474	Glb1l	galactosidase, beta 1-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1319832	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309474	Glb1l	galactosidase, beta 1-like	gene	DOID:6039	uveal melanoma		ISO	RGD:1319832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309474	Glb1l	galactosidase, beta 1-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309474	Glb1l	galactosidase, beta 1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309475	Stard4	StAR-related lipid transfer domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1319833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309475	Stard4	StAR-related lipid transfer domain containing 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1319833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309475	Stard4	StAR-related lipid transfer domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1319833	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309475	Stard4	StAR-related lipid transfer domain containing 4	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319833	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1319837	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	PMID:32641753
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:10485	esophageal atresia		ISO	RGD:1319837	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:32641753
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1319837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:1115	sarcoma		ISO	RGD:1319837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:1324	lung cancer		ISO	RGD:1319837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:1909	melanoma		ISO	RGD:1319837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:4362	cervical cancer		ISO	RGD:1319837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:5041	esophageal cancer		ISO	RGD:1319837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1309477	Polr2b	RNA polymerase II subunit B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309478	Bnipl	BCL2 interacting protein like	gene	DOID:4362	cervical cancer		ISO	RGD:1319839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309478	Bnipl	BCL2 interacting protein like	gene	DOID:5041	esophageal cancer		ISO	RGD:1319839	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309478	Bnipl	BCL2 interacting protein like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309478	Bnipl	BCL2 interacting protein like	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309478	Bnipl	BCL2 interacting protein like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309480	Ints6	integrator complex subunit 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309480	Ints6	integrator complex subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309480	Ints6	integrator complex subunit 6	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319842	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1309480	Ints6	integrator complex subunit 6	gene	DOID:0081467	autosomal dominant intellectual developmental disorder 78		ISO	RGD:1319842	D	RGD:7240710	20260805	OMIM			
1309480	Ints6	integrator complex subunit 6	gene	DOID:0081467	autosomal dominant intellectual developmental disorder 78		ISO	RGD:1319842	D	RGD:8554872	20260804	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 78	
1309480	Ints6	integrator complex subunit 6	gene	DOID:10534	stomach cancer		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309480	Ints6	integrator complex subunit 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309480	Ints6	integrator complex subunit 6	gene	DOID:4362	cervical cancer		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309480	Ints6	integrator complex subunit 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309480	Ints6	integrator complex subunit 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309480	Ints6	integrator complex subunit 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309480	Ints6	integrator complex subunit 6	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
1309480	Ints6	integrator complex subunit 6	gene	DOID:9006637	Schizencephaly		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:25741868
1309480	Ints6	integrator complex subunit 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309480	Ints6	integrator complex subunit 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319845	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:1059	intellectual disability		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:1074	kidney failure		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:1115	sarcoma		ISO	RGD:1319845	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:11162	respiratory failure		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:1143	exotropia		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:11782	astigmatism		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:11830	myopia		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:1909	melanoma		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:2355	anemia		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:630	genetic disease		ISO	RGD:1319845	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:9000628	Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities		ISO	RGD:1319845	D	RGD:7240710	20221123	OMIM			
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:9000628	Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities		ISO	RGD:1319845	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	PMID:25741868|PMID:35821753|PMID:35871492
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:9000972	Fever		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:9008385	Vomiting		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868|PMID:35821753
1309482	Fra10ac1	FRA10A associated CGG repeat 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:35821753
1309483	Snx31	sorting nexin 31	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309483	Snx31	sorting nexin 31	gene	DOID:1115	sarcoma		ISO	RGD:1603261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309483	Snx31	sorting nexin 31	gene	DOID:1324	lung cancer		ISO	RGD:1603261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309483	Snx31	sorting nexin 31	gene	DOID:2394	ovarian cancer		ISO	RGD:1603261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309483	Snx31	sorting nexin 31	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309483	Snx31	sorting nexin 31	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309483	Snx31	sorting nexin 31	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:1115	sarcoma		ISO	RGD:1319848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:12849	autistic disorder		ISO	RGD:1319848	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:1324	lung cancer		ISO	RGD:1319848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:1909	melanoma		ISO	RGD:1319848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319848	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1319848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309484	Ppil2	peptidylprolyl isomerase like 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1319848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309485	Plaat1	phospholipase A and acyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309485	Plaat1	phospholipase A and acyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309485	Plaat1	phospholipase A and acyltransferase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309487	Wdr70	WD repeat domain 70	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309487	Wdr70	WD repeat domain 70	gene	DOID:1324	lung cancer		ISO	RGD:1605675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309487	Wdr70	WD repeat domain 70	gene	DOID:1909	melanoma		ISO	RGD:1605675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309487	Wdr70	WD repeat domain 70	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309487	Wdr70	WD repeat domain 70	gene	DOID:4362	cervical cancer		ISO	RGD:1605675	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309487	Wdr70	WD repeat domain 70	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605675	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309487	Wdr70	WD repeat domain 70	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309487	Wdr70	WD repeat domain 70	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309487	Wdr70	WD repeat domain 70	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309487	Wdr70	WD repeat domain 70	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309487	Wdr70	WD repeat domain 70	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309487	Wdr70	WD repeat domain 70	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:0060058	lymphoma		ISO	RGD:1319855	D	RGD:1581305|PMID:15231650	19990101	RGD			
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1319854	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 1	PMID:25741868
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1319854	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:0112371	Coffin-Siris syndrome 10		ISO	RGD:1319854	D	RGD:7240710	20190731	OMIM			
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:0112371	Coffin-Siris syndrome 10		ISO	RGD:1319854	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 10 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: SOX4-related condition	PMID:25741868|PMID:28492532|PMID:30661772|PMID:35232796|PMID:35887114|PMID:36307859|PMID:36834931
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:1059	intellectual disability		ISO	RGD:1319854	D	RGD:8554872	20190409	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:30661772
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319854	D	RGD:1581304|PMID:16585165	19990101	RGD			
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:114	heart disease		ISO	RGD:1319855	D	RGD:1581306|PMID:9815146	19990101	RGD			
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:1923	disorder of sexual development		ISO	RGD:1319854	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Disorder of sexual differentiation	
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1319854	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:3459	breast carcinoma		ISO	RGD:1319854	D	RGD:153297792|PMID:29882245	20220726	RGD		protein:increased expression:breast	
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1319854	D	RGD:153297793|PMID:16052521	20220726	RGD			
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1319854	D	RGD:153297792|PMID:29882245	20220726	RGD		protein:increased expression:lung	
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:6000	congestive heart failure		ISO	RGD:1319854	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:630	genetic disease		ISO	RGD:1319854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:30661772|PMID:35232796
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:9001041	Asphyxia		IDA		D	RGD:1581119|PMID:12011571	19990101	RGD			
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319854	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1319854	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147764
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1319854	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1319854	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319854	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1309488	Sox4	SRY-box transcription factor 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319854	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1309490	Klhl20	kelch-like family member 20	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309490	Klhl20	kelch-like family member 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309490	Klhl20	kelch-like family member 20	gene	DOID:0070713	neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities		ISO	RGD:1343100	D	RGD:7240710	20260603	OMIM			
1309490	Klhl20	kelch-like family member 20	gene	DOID:0070713	neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities		ISO	RGD:1343100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET SEIZURES, FACIAL DYSMORPHISM, AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities	PMID:25741868|PMID:28492532|PMID:29738522|PMID:36214804
1309490	Klhl20	kelch-like family member 20	gene	DOID:10283	prostate cancer		ISO	RGD:1343100	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309490	Klhl20	kelch-like family member 20	gene	DOID:10283	prostate cancer		ISO	RGD:1343100	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309490	Klhl20	kelch-like family member 20	gene	DOID:1059	intellectual disability		ISO	RGD:1343100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
1309490	Klhl20	kelch-like family member 20	gene	DOID:1909	melanoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309490	Klhl20	kelch-like family member 20	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309490	Klhl20	kelch-like family member 20	gene	DOID:3070	high grade glioma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309490	Klhl20	kelch-like family member 20	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309490	Klhl20	kelch-like family member 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1343100	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309490	Klhl20	kelch-like family member 20	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309490	Klhl20	kelch-like family member 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309490	Klhl20	kelch-like family member 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309490	Klhl20	kelch-like family member 20	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1309490	Klhl20	kelch-like family member 20	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1309490	Klhl20	kelch-like family member 20	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:36214804
1309490	Klhl20	kelch-like family member 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309490	Klhl20	kelch-like family member 20	gene	DOID:9970	obesity		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1309493	Rps6kl1	ribosomal protein S6 kinase-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309493	Rps6kl1	ribosomal protein S6 kinase-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309493	Rps6kl1	ribosomal protein S6 kinase-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309493	Rps6kl1	ribosomal protein S6 kinase-like 1	gene	DOID:1909	melanoma		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309493	Rps6kl1	ribosomal protein S6 kinase-like 1	gene	DOID:3275	thymoma		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309493	Rps6kl1	ribosomal protein S6 kinase-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309493	Rps6kl1	ribosomal protein S6 kinase-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309493	Rps6kl1	ribosomal protein S6 kinase-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:0051061	stroke		ISO	RGD:1349569	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:10534	stomach cancer		ISO	RGD:1349569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:3070	high grade glioma		ISO	RGD:1349569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:3275	thymoma		ISO	RGD:1349569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:4362	cervical cancer		ISO	RGD:1349569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1349569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:6039	uveal melanoma		ISO	RGD:1349569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1349569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309494	Zcchc14	zinc finger CCHC-type containing 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309495	Srsf9	serine and arginine rich splicing factor 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309495	Srsf9	serine and arginine rich splicing factor 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319864	D	RGD:11040443|PMID:22178073	20160308	RGD		mRNA:increased expression:urinary bladder epithelium (human)	
1309495	Srsf9	serine and arginine rich splicing factor 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309495	Srsf9	serine and arginine rich splicing factor 9	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1319864	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1309495	Srsf9	serine and arginine rich splicing factor 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309495	Srsf9	serine and arginine rich splicing factor 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309495	Srsf9	serine and arginine rich splicing factor 9	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:1319864	D	RGD:11040805|PMID:20616573	20160315	RGD			
1309496	Alkbh5	alkB homolog 5, RNA demethylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309496	Alkbh5	alkB homolog 5, RNA demethylase	gene	DOID:10591	pre-eclampsia		ISO	RGD:1603209	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:34995009
1309496	Alkbh5	alkB homolog 5, RNA demethylase	gene	DOID:1324	lung cancer		ISO	RGD:1603209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309496	Alkbh5	alkB homolog 5, RNA demethylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309496	Alkbh5	alkB homolog 5, RNA demethylase	gene	DOID:9538	multiple myeloma		ISO	RGD:1603209	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35038059
1309497	Efnb2	ephrin B2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1319867	D	RGD:9068941	20220811	RGD		protein:increased expression:oral mucosa (human)	PMID:26044849|REF_RGD_ID:153323290
1309497	Efnb2	ephrin B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309497	Efnb2	ephrin B2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1319867	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1309497	Efnb2	ephrin B2	gene	DOID:0080199	colorectal carcinoma	ameliorates	ISO	RGD:1319867	D	RGD:153300950|PMID:26494468	20220809	RGD		human cells in mouse model	
1309497	Efnb2	ephrin B2	gene	DOID:10534	stomach cancer		ISO	RGD:1319867	D	RGD:153323289|PMID:12136247	20220811	RGD		mRNA:increased expression:stomach (human)	
1309497	Efnb2	ephrin B2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309497	Efnb2	ephrin B2	gene	DOID:1520	colon carcinoma	ameliorates	ISO	RGD:1319867	D	RGD:153305907|PMID:15083195	20220809	RGD		human cells in mouse model	
1309497	Efnb2	ephrin B2	gene	DOID:3748	esophagus squamous cell carcinoma	ameliorates	ISO	RGD:1319867	D	RGD:153300948|PMID:29190834	20220808	RGD		human cells in mouse model	
1309497	Efnb2	ephrin B2	gene	DOID:3748	esophagus squamous cell carcinoma	exacerbates	ISO	RGD:1319867	D	RGD:153300949|PMID:31885720	20220808	RGD		mRNA,protein:increased expression:esophagus squamous epithelium (human)	
1309497	Efnb2	ephrin B2	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1319867	D	RGD:153300947|PMID:17611172	20220808	RGD		mRNA:increased expression:esophagus squamous epithelium (human)	
1309497	Efnb2	ephrin B2	gene	DOID:4362	cervical cancer		ISO	RGD:1319867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309497	Efnb2	ephrin B2	gene	DOID:799	varicose veins		ISO	RGD:1319867	D	RGD:11529441|PMID:26808710	20221107	RGD		mRNA,protein:increased expression:vein:	
1309497	Efnb2	ephrin B2	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:127285659|PMID:33794069	20210625	RGD		mRNA,protein:increased expression:fibroblast, astrocyte	
1309497	Efnb2	ephrin B2	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:127285804|PMID:12944508	20210630	RGD		protein:increased phosporylation:spinal cord	
1309497	Efnb2	ephrin B2	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1319867	D	RGD:11554173	20191112	CTD		CTD Direct Evidence: therapeutic	PMID:30106123
1309497	Efnb2	ephrin B2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1319867	D	RGD:153305948|PMID:25012246	20220810	RGD		associated with cholangiocarcinoma;protein:increased expression:biliary ductule (human)	
1309497	Efnb2	ephrin B2	gene	DOID:9000970	Focal Nodular Hyperplasia		ISO	RGD:1319867	D	RGD:155646133|PMID:23870033	20221108	RGD		mRNA:decreased expression:liver	
1309497	Efnb2	ephrin B2	gene	DOID:9002909	Oxygen-Induced Retinopathy		IEP		D	RGD:155663663|PMID:26670826	20221201	RGD		mRNA:increased expression:retina	
1309497	Efnb2	ephrin B2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1319867	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16526316
1309497	Efnb2	ephrin B2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1319867	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
1309497	Efnb2	ephrin B2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1319867	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1309497	Efnb2	ephrin B2	gene	DOID:9261	nasopharynx carcinoma	disease_progression	ISO	RGD:1319867	D	RGD:153305949|PMID:23631129	20220810	RGD		protein:increased expression:nasopharynx (human)	
1309497	Efnb2	ephrin B2	gene	DOID:9778	irritable bowel syndrome		IEP		D	RGD:127229906|PMID:31601124	20210602	RGD		associated with trichuriasis;protein:increased expression:colonic muscularis:	
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:0050562	West syndrome		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868|PMID:26633542|PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:0050567	orofacial cleft		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868|PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:0070309	absence epilepsy		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:0070431	hyperphosphatasia with impaired intellectual development syndrome		ISO	RGD:1319869	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:0070431	hyperphosphatasia with impaired intellectual development syndrome		ISO	RGD:1319869	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome	PMID:22683086|PMID:24033266|PMID:24417746|PMID:25741868|PMID:28492532|PMID:28545593|PMID:30609409|PMID:31440721|PMID:31589614|PMID:31980526|PMID:34313030|PMID:34441372
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:0070434	hyperphosphatasia with impaired intellectual development syndrome 2		ISO	RGD:1319869	D	RGD:7240710	20140911	OMIM			
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:0070434	hyperphosphatasia with impaired intellectual development syndrome 2		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 | ClinVar Annotator: match by term: PIGO-related condition	PMID:16199547|PMID:17576681|PMID:22683086|PMID:23552953|PMID:24417746|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28492532|PMID:28545593|PMID:32424350|PMID:36762943|PMID:39767685|PMID:9536098
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:0080833	laryngomalacia		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:26633542|PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1319869	D	RGD:8554872	20191210	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease	PMID:25741868
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:10534	stomach cancer		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:1059	intellectual disability		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:10907	microcephaly		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly	PMID:22683086|PMID:24417746|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39767685
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:1115	sarcoma		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:11155	hypohidrosis		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:11832	visual epilepsy		ISO	RGD:1319869	D	RGD:8554872	20201015	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:12849	autistic disorder		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:1324	lung cancer		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:1826	epilepsy		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26633542|PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:3070	high grade glioma		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:4362	cervical cancer		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:5041	esophageal cancer		ISO	RGD:1319869	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:630	genetic disease		ISO	RGD:1319869	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22683086|PMID:24033266|PMID:24417746|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28545593|PMID:30609409|PMID:31440721|PMID:31589614|PMID:31980526|PMID:34313030|PMID:34441372
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:824	periodontitis		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:22683086|PMID:24417746|PMID:25741868|PMID:28492532|PMID:39767685
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:9005077	Joint Instability		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:22683086|PMID:24417746|PMID:25741868|PMID:28492532|PMID:39767685
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:22683086|PMID:24417746|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39767685
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:9007661	Dwarfism		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26633542|PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22683086|PMID:24417746|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39767685
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:9008498	Tracheoesophageal Fistula		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheoesophageal fistula	PMID:25741868
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:936	brain disease		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532
1309498	Pigo	phosphatidylinositol glycan anchor biosynthesis, class O	gene	DOID:9840	esotropia		ISO	RGD:1319869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:22683086|PMID:24417746|PMID:25741868|PMID:28492532|PMID:39767685
1309499	Dok1	docking protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309499	Dok1	docking protein 1	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1319872	D	RGD:152177521|PMID:20139980	20220517	RGD			
1309499	Dok1	docking protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309499	Dok1	docking protein 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1319871	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:21856257
1309499	Dok1	docking protein 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1319871	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20139980
1309499	Dok1	docking protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:0110137	Bardet-Biedl syndrome 15		ISO	RGD:1603046	D	RGD:7240710	20170301	OMIM			
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:0110137	Bardet-Biedl syndrome 15		ISO	RGD:1603046	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 15 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 15	PMID:16199547|PMID:20671153|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28492532
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:0111591	congenital heart defects, hamartomas of tongue, and polysyndactyly		ISO	RGD:1603046	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:0111591	congenital heart defects, hamartomas of tongue, and polysyndactyly		ISO	RGD:1603046	D	RGD:7240710	20171011	OMIM			
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:0111591	congenital heart defects, hamartomas of tongue, and polysyndactyly		ISO	RGD:1603046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly | ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome | ClinVar Annotator: match by term: WDPCP-related condition	PMID:16199547|PMID:17576681|PMID:20671153|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28492532|PMID:29588463|PMID:32483926|PMID:9536098
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:1324	lung cancer		ISO	RGD:1603046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:1909	melanoma		ISO	RGD:1603046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1603046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:16199547|PMID:17576681|PMID:20671153|PMID:25427950|PMID:25640679|PMID:25741868|PMID:27158779|PMID:28492532|PMID:9536098
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:4362	cervical cancer		ISO	RGD:1603046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:4501	orofaciodigital syndrome		ISO	RGD:1603046	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Orofaciodigital syndrome	
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:5679	retinal disease		ISO	RGD:1603046	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:17576681|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:33046855|PMID:9536098
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:5723	optic atrophy		ISO	RGD:1603046	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532|PMID:32483926
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:630	genetic disease		ISO	RGD:1603046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:8501	fundus dystrophy		ISO	RGD:1603046	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1309501	Wdpcp	WD repeat containing planar cell polarity effector	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309502	Crebl2	cAMP responsive element binding protein-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309502	Crebl2	cAMP responsive element binding protein-like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309502	Crebl2	cAMP responsive element binding protein-like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1319876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309502	Crebl2	cAMP responsive element binding protein-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309502	Crebl2	cAMP responsive element binding protein-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309503	Itm2c	integral membrane protein 2C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309503	Itm2c	integral membrane protein 2C	gene	DOID:10534	stomach cancer		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309503	Itm2c	integral membrane protein 2C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309503	Itm2c	integral membrane protein 2C	gene	DOID:1115	sarcoma		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309503	Itm2c	integral membrane protein 2C	gene	DOID:1324	lung cancer		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309503	Itm2c	integral membrane protein 2C	gene	DOID:1909	melanoma		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309503	Itm2c	integral membrane protein 2C	gene	DOID:4362	cervical cancer		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309503	Itm2c	integral membrane protein 2C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309503	Itm2c	integral membrane protein 2C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309503	Itm2c	integral membrane protein 2C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309503	Itm2c	integral membrane protein 2C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309503	Itm2c	integral membrane protein 2C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:27356265
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:28659334
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:21637507
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:0080600	COVID-19		ISO	RGD:1319880	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:29107063|PMID:30319691|PMID:30320580
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319880	D	RGD:6484658|PMID:22159054	20120627	RGD		DNA:SNP: :rs6859 (human)	
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:29321541
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:1115	sarcoma		ISO	RGD:1319880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:25475535
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:1936	atherosclerosis		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:28062492
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1319880	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:2377	multiple sclerosis		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:16738668
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:2377	multiple sclerosis	no_association	ISO	RGD:1319880	D	RGD:6767565|PMID:17376543	20120711	RGD		DNA:SNPs: :multiple	
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:2377	multiple sclerosis	severity	ISO	RGD:1319880	D	RGD:6767558|PMID:16738668	20120711	RGD		DNA:polymorphism:intron:c.89-104C>T (rs394221) (human)	
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:418	systemic scleroderma		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:27482699
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319880	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1319880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:8566	herpes simplex		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:10729168|PMID:11602758|PMID:30319691
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:29321541
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319880	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30614027
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:9002321	Teratozoospermia		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:28689229
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: therapeutic	PMID:23758976
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30503753
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:29670124
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: therapeutic	PMID:23758976
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1309505	Nectin2	nectin cell adhesion molecule 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319880	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: therapeutic	PMID:29855615
1309507	Rab30	RAB30, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309507	Rab30	RAB30, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1319882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309507	Rab30	RAB30, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309507	Rab30	RAB30, member RAS oncogene family	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319882	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309507	Rab30	RAB30, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309508	Reep6	receptor accessory protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319884	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309508	Reep6	receptor accessory protein 6	gene	DOID:0080350	retinitis pigmentosa 77		ISO	RGD:1319884	D	RGD:7240710	20190315	OMIM			
1309508	Reep6	receptor accessory protein 6	gene	DOID:0080350	retinitis pigmentosa 77		ISO	RGD:1319884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: REEP6-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 77 | ClinVar Annotator: match by term: Retinitis pigmentosa 77	PMID:25741868|PMID:27889058|PMID:28369466|PMID:28475715|PMID:28492532|PMID:29120066|PMID:33247286|PMID:36284460|PMID:36819107
1309508	Reep6	receptor accessory protein 6	gene	DOID:0080350	retinitis pigmentosa 77		ISS	RGD:1319885	D	RGD:13592920	20230718	MouseDO		OMIM:617304	
1309508	Reep6	receptor accessory protein 6	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1319884	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa	PMID:25741868|PMID:27889058|PMID:28492532|PMID:29120066
1309508	Reep6	receptor accessory protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1319884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309508	Reep6	receptor accessory protein 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309508	Reep6	receptor accessory protein 6	gene	DOID:5723	optic atrophy		ISO	RGD:1319884	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1309508	Reep6	receptor accessory protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309508	Reep6	receptor accessory protein 6	gene	DOID:630	genetic disease		ISO	RGD:1319884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309508	Reep6	receptor accessory protein 6	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319884	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1309508	Reep6	receptor accessory protein 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309509	Rarres1	retinoic acid receptor responder 1	gene	DOID:0050873	follicular lymphoma		ISS	RGD:1551283	D	RGD:13592920	20220721	MouseDO		OMIM:151430	
1309509	Rarres1	retinoic acid receptor responder 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309509	Rarres1	retinoic acid receptor responder 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309509	Rarres1	retinoic acid receptor responder 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309509	Rarres1	retinoic acid receptor responder 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309509	Rarres1	retinoic acid receptor responder 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309509	Rarres1	retinoic acid receptor responder 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1319886	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16134180
1309509	Rarres1	retinoic acid receptor responder 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319886	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309509	Rarres1	retinoic acid receptor responder 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309510	Gprc5b	G protein-coupled receptor, class C, group 5, member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309510	Gprc5b	G protein-coupled receptor, class C, group 5, member B	gene	DOID:1324	lung cancer		ISO	RGD:1319887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309510	Gprc5b	G protein-coupled receptor, class C, group 5, member B	gene	DOID:1909	melanoma		ISO	RGD:1319887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309510	Gprc5b	G protein-coupled receptor, class C, group 5, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309510	Gprc5b	G protein-coupled receptor, class C, group 5, member B	gene	DOID:9001940	Megalencephalic Leukoencephalopathy with Subcortical Cysts 3		ISO	RGD:1319887	D	RGD:7240710	20230726	OMIM			
1309510	Gprc5b	G protein-coupled receptor, class C, group 5, member B	gene	DOID:9001940	Megalencephalic Leukoencephalopathy with Subcortical Cysts 3		ISO	RGD:1319887	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 3	PMID:25741868
1309510	Gprc5b	G protein-coupled receptor, class C, group 5, member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309510	Gprc5b	G protein-coupled receptor, class C, group 5, member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1309511	Entpd4	ectonucleoside triphosphate diphosphohydrolase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309511	Entpd4	ectonucleoside triphosphate diphosphohydrolase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1319889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309511	Entpd4	ectonucleoside triphosphate diphosphohydrolase 4	gene	DOID:1324	lung cancer		ISO	RGD:1319889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309511	Entpd4	ectonucleoside triphosphate diphosphohydrolase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309511	Entpd4	ectonucleoside triphosphate diphosphohydrolase 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309511	Entpd4	ectonucleoside triphosphate diphosphohydrolase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1319889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309511	Entpd4	ectonucleoside triphosphate diphosphohydrolase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309511	Entpd4	ectonucleoside triphosphate diphosphohydrolase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309511	Entpd4	ectonucleoside triphosphate diphosphohydrolase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309511	Entpd4	ectonucleoside triphosphate diphosphohydrolase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309511	Entpd4	ectonucleoside triphosphate diphosphohydrolase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309512	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309512	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1319891	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1309512	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:14227	azoospermia		ISS	RGD:1551284	D	RGD:13592920	20180518	MouseDO		OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842	
1309512	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:14330	Parkinson's disease	disease_progression	IEP		D	RGD:598148160|PMID:33571554	20250424	RGD			
1309512	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:14330	Parkinson's disease	exacerbates	IMP		D	RGD:598148160|PMID:33571554	20250424	RGD			
1309512	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:1826	epilepsy		ISO	RGD:1319891	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy	
1309512	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:1909	melanoma		ISO	RGD:1319891	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1309512	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:4362	cervical cancer		ISO	RGD:1319891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309512	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309512	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309512	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309512	Gopc	golgi associated PDZ and coiled-coil motif containing	gene	DOID:9256	colorectal cancer		ISO	RGD:1319891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:12077706|PMID:25741868|PMID:28492532|PMID:31058429|PMID:31144483
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:0110010	achromatopsia 4		ISO	RGD:1319893	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:0110010	achromatopsia 4		ISO	RGD:1319893	D	RGD:7240710	20141015	OMIM			
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:0110010	achromatopsia 4		ISO	RGD:1319893	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ACHROMATOPSIA 4 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar Annotator: match by term: GNAT2-related condition	PMID:12077706|PMID:15557429|PMID:18643908|PMID:21107338|PMID:25741868|PMID:27208204|PMID:27479814|PMID:28492532|PMID:31058429|PMID:31144483
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:0110010	achromatopsia 4		ISS	RGD:1319894	D	RGD:13592920	20230718	MouseDO		OMIM:613856	
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:13399	color blindness		ISO	RGD:1319893	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12077706
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:13399	color blindness		ISO	RGD:1319893	D	RGD:1599034|PMID:12077706	20070112	RGD			
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:13911	achromatopsia		ISO	RGD:1319893	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Achromatopsia	PMID:12077706|PMID:25741868|PMID:28492532|PMID:31058429|PMID:31144483
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:13911	achromatopsia		ISS	RGD:1319894	D	RGD:13592920	20211125	MouseDO			
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:3275	thymoma		ISO	RGD:1319893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:630	genetic disease		ISO	RGD:1319893	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1319893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:12077706|PMID:25741868|PMID:28492532|PMID:31058429|PMID:31144483|PMID:31964843
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:9003656	Achromatopsia 1		ISO	RGD:1319893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod monochromatism	PMID:12077706|PMID:25741868|PMID:28492532|PMID:31058429|PMID:31144483
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1319893	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	
1309514	Gnat2	G protein subunit alpha transducin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:10534	stomach cancer		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:1115	sarcoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:1324	lung cancer		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:1909	melanoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:3275	thymoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:4362	cervical cancer		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309515	Rad17	RAD17 checkpoint clamp loader component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309516	Nectin3	nectin cell adhesion molecule 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309516	Nectin3	nectin cell adhesion molecule 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309516	Nectin3	nectin cell adhesion molecule 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309516	Nectin3	nectin cell adhesion molecule 3	gene	DOID:9002321	Teratozoospermia		ISO	RGD:1319897	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:28689229
1309516	Nectin3	nectin cell adhesion molecule 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309517	Rpl22l1	ribosomal protein L22 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309517	Rpl22l1	ribosomal protein L22 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1602286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309517	Rpl22l1	ribosomal protein L22 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1602286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309517	Rpl22l1	ribosomal protein L22 like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309517	Rpl22l1	ribosomal protein L22 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309517	Rpl22l1	ribosomal protein L22 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309519	Zfand1	zinc finger AN1-type containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309519	Zfand1	zinc finger AN1-type containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605942	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309519	Zfand1	zinc finger AN1-type containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309519	Zfand1	zinc finger AN1-type containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309521	Kcng2	potassium voltage-gated channel modifier subfamily G member 2	gene	DOID:1059	intellectual disability		ISO	RGD:1319904	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: intellectual disability with severe speech impairment	PMID:25741868
1309521	Kcng2	potassium voltage-gated channel modifier subfamily G member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319904	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309521	Kcng2	potassium voltage-gated channel modifier subfamily G member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:10534	stomach cancer		ISO	RGD:1605625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:1324	lung cancer		ISO	RGD:1605625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:1909	melanoma		ISO	RGD:1605625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:4362	cervical cancer		ISO	RGD:1605625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:5041	esophageal cancer		ISO	RGD:1605625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309522	Bora	bora, aurora kinase A activator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309523	Cdk18	cyclin-dependent kinase 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309523	Cdk18	cyclin-dependent kinase 18	gene	DOID:0060058	lymphoma		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309523	Cdk18	cyclin-dependent kinase 18	gene	DOID:10534	stomach cancer		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309523	Cdk18	cyclin-dependent kinase 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309523	Cdk18	cyclin-dependent kinase 18	gene	DOID:1115	sarcoma		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309523	Cdk18	cyclin-dependent kinase 18	gene	DOID:1324	lung cancer		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309523	Cdk18	cyclin-dependent kinase 18	gene	DOID:1909	melanoma		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309523	Cdk18	cyclin-dependent kinase 18	gene	DOID:4362	cervical cancer		ISO	RGD:1319906	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309523	Cdk18	cyclin-dependent kinase 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1319906	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309523	Cdk18	cyclin-dependent kinase 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309523	Cdk18	cyclin-dependent kinase 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309523	Cdk18	cyclin-dependent kinase 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309523	Cdk18	cyclin-dependent kinase 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309523	Cdk18	cyclin-dependent kinase 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309524	Med26	mediator complex subunit 26	gene	DOID:10534	stomach cancer		ISO	RGD:1352604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309524	Med26	mediator complex subunit 26	gene	DOID:1115	sarcoma		ISO	RGD:1352604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309524	Med26	mediator complex subunit 26	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352604	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309524	Med26	mediator complex subunit 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309524	Med26	mediator complex subunit 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309526	Pigv	phosphatidylinositol glycan anchor biosynthesis, class V	gene	DOID:0070431	hyperphosphatasia with impaired intellectual development syndrome		ISO	RGD:1349310	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:20802478
1309526	Pigv	phosphatidylinositol glycan anchor biosynthesis, class V	gene	DOID:0070431	hyperphosphatasia with impaired intellectual development syndrome		ISO	RGD:1349310	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MABRY SYNDROME	PMID:25741868|PMID:28492532|PMID:28688840|PMID:31164752|PMID:36064943|PMID:37863628
1309526	Pigv	phosphatidylinositol glycan anchor biosynthesis, class V	gene	DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1		ISO	RGD:1349310	D	RGD:243048420|PMID:20802478	20230329	RGD		DNA:missense mutations:CDS:multiple (human)	
1309526	Pigv	phosphatidylinositol glycan anchor biosynthesis, class V	gene	DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1		ISO	RGD:1349310	D	RGD:7240710	20130221	OMIM			
1309526	Pigv	phosphatidylinositol glycan anchor biosynthesis, class V	gene	DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1		ISO	RGD:1349310	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: PIGV-related condition	PMID:21739589|PMID:22315194|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28688840|PMID:31164752|PMID:35080266|PMID:36064943|PMID:37863628
1309526	Pigv	phosphatidylinositol glycan anchor biosynthesis, class V	gene	DOID:0080036	SOST-related sclerosing bone dysplasia		ISO	RGD:1349310	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Elevated alkaline phosphatase	PMID:28492532
1309526	Pigv	phosphatidylinositol glycan anchor biosynthesis, class V	gene	DOID:10534	stomach cancer		ISO	RGD:1349310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309526	Pigv	phosphatidylinositol glycan anchor biosynthesis, class V	gene	DOID:1115	sarcoma		ISO	RGD:1349310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309526	Pigv	phosphatidylinositol glycan anchor biosynthesis, class V	gene	DOID:5041	esophageal cancer		ISO	RGD:1349310	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309526	Pigv	phosphatidylinositol glycan anchor biosynthesis, class V	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309526	Pigv	phosphatidylinositol glycan anchor biosynthesis, class V	gene	DOID:630	genetic disease		ISO	RGD:1349310	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21739589|PMID:22315194|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28817240|PMID:31164752|PMID:35080266
1309526	Pigv	phosphatidylinositol glycan anchor biosynthesis, class V	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319911	D	RGD:155663377|PMID:29700987	20221114	RGD		DNA:nonsense mutation:exon:c.1039 C>T, p.R347X (human)	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319911	D	RGD:155663379|PMID:28464518	20221115	RGD		DNA:deletions:multiple: (human)	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:0060260	ptosis		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1319911	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:25741868
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319911	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	PMID:25741868|PMID:28386937|PMID:28492532|PMID:31250519|PMID:34906501
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319912	D	RGD:155663355|PMID:34990405	20221111	RGD			
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1319911	D	RGD:155663359|PMID:36229919	20221111	RGD		DNA:mutations:cds:multiple (human)	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:2152	ovary epithelial cancer	susceptibility	ISO	RGD:1319911	D	RGD:155663376|PMID:31485280	20221114	RGD		DNA:SNP:CDS:rs237028 (human)	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1319912	D	RGD:155663371|PMID:34331613	20221114	RGD		mRNA, protein:increased expression:lung (mouse)	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:1319912	D	RGD:155663374|PMID:32506869	20221114	RGD			
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1319911	D	RGD:155663369|PMID:34551195	20221114	RGD		mRNA:increased expression:lung (human)	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:540	strabismus		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:5644	tricuspid valve prolapse		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tricuspid valve prolapse	PMID:25741868
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319911	D	RGD:155663483|PMID:22660635	20221117	RGD		mRNA, protein:increased expression:synovial (human)	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:9004266	Patellar Dislocation		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patellar dislocation	PMID:25741868
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:9004994	Embryo Loss		ISO	RGD:1319912	D	RGD:155663421|PMID:22972987	20221116	RGD			
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:25741868
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:9007753	Congenital Heart Defects, Multiple Types, 2		ISO	RGD:1319911	D	RGD:7240710	20140911	OMIM			
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:9007753	Congenital Heart Defects, Multiple Types, 2		ISO	RGD:1319911	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CONGENITAL HEART DISEASE, MULTIPLE TYPES, 2 | ClinVar Annotator: match by term: Congenital heart defects, multiple types, 2 | ClinVar Annotator: match by term: Congenital heart defects, nonsyndromic, 2 | ClinVar Annotator: match by term: TAB2-related condition | ClinVar Annotator: match by term: TAB2-related disorder | ClinVar Annotator: match by term: congenital heart defects, multiple types, 2	PMID:20493459|PMID:25741868|PMID:28386937|PMID:28492532|PMID:29700987|PMID:31250519|PMID:33131162|PMID:34741306|PMID:34906501|PMID:34995729|PMID:35971781|PMID:36229919
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:9008565	Congenital Heart Defects, Multiple Types		ISO	RGD:1319911	D	RGD:155663487|PMID:20493459	20221117	RGD		DNA:mutation, translocation:cds:c.622C>T p.Pro208Ser|c.688C>A p.Gln230Lys, t(2;6)(q21;q25)	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1319911	D	RGD:155663483|PMID:22660635	20221117	RGD		mRNA, protein:increased expression:kidney (human)	
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:988	mitral valve prolapse		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:25741868
1309527	Tab2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	gene	DOID:9993	hypoglycemia		ISO	RGD:1319911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:36229919
1309528	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent, 1H	gene	DOID:10534	stomach cancer		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309528	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent, 1H	gene	DOID:1324	lung cancer		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309528	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent, 1H	gene	DOID:1909	melanoma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309528	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent, 1H	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309528	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent, 1H	gene	DOID:3070	high grade glioma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309528	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent, 1H	gene	DOID:4362	cervical cancer		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309528	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent, 1H	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309528	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent, 1H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309528	Ppm1h	protein phosphatase, Mg2+/Mn2+ dependent, 1H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309529	Cisd1	CDGSH iron sulfur domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309529	Cisd1	CDGSH iron sulfur domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309529	Cisd1	CDGSH iron sulfur domain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309529	Cisd1	CDGSH iron sulfur domain 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309529	Cisd1	CDGSH iron sulfur domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309529	Cisd1	CDGSH iron sulfur domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309531	Maff	MAF bZIP transcription factor F	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309531	Maff	MAF bZIP transcription factor F	gene	DOID:3275	thymoma		ISO	RGD:1319919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309531	Maff	MAF bZIP transcription factor F	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1319919	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1309532	Mdfic	MyoD family inhibitor domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309532	Mdfic	MyoD family inhibitor domain containing	gene	DOID:0081030	central conducting lymphatic anomaly		ISS	RGD:1553252	D	RGD:13592920	20220804	MouseDO		OMIM:617300	
1309532	Mdfic	MyoD family inhibitor domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1607030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309532	Mdfic	MyoD family inhibitor domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309532	Mdfic	MyoD family inhibitor domain containing	gene	DOID:630	genetic disease		ISO	RGD:1607030	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309532	Mdfic	MyoD family inhibitor domain containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309532	Mdfic	MyoD family inhibitor domain containing	gene	DOID:9002507	Lymphatic Malformation 12		ISO	RGD:1607030	D	RGD:7240710	20220831	OMIM			
1309532	Mdfic	MyoD family inhibitor domain containing	gene	DOID:9002507	Lymphatic Malformation 12		ISO	RGD:1607030	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 12 | ClinVar Annotator: match by term: Lymphatic malformation 12	PMID:25741868
1309532	Mdfic	MyoD family inhibitor domain containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1607030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309532	Mdfic	MyoD family inhibitor domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309533	Paqr4	progestin and adipoQ receptor family member 4	gene	DOID:0080600	COVID-19		ISO	RGD:1319922	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309533	Paqr4	progestin and adipoQ receptor family member 4	gene	DOID:3070	high grade glioma		ISO	RGD:1319922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309533	Paqr4	progestin and adipoQ receptor family member 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319922	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
1309533	Paqr4	progestin and adipoQ receptor family member 4	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1319922	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
1309533	Paqr4	progestin and adipoQ receptor family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309534	Bkgd	beta-keto-L-gulonate decarboxylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309534	Bkgd	beta-keto-L-gulonate decarboxylase	gene	DOID:10534	stomach cancer		ISO	RGD:1603055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309534	Bkgd	beta-keto-L-gulonate decarboxylase	gene	DOID:1115	sarcoma		ISO	RGD:1603055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309534	Bkgd	beta-keto-L-gulonate decarboxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309534	Bkgd	beta-keto-L-gulonate decarboxylase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309534	Bkgd	beta-keto-L-gulonate decarboxylase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603055	D	RGD:11554173	20260113	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309534	Bkgd	beta-keto-L-gulonate decarboxylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1344487	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:23861362|PMID:25741868|PMID:28166811|PMID:28492532
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:0060947	autosomal recessive intellectual developmental disorder 82		ISO	RGD:1344487	D	RGD:7240710	20240501	OMIM			
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:0060947	autosomal recessive intellectual developmental disorder 82		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 82	PMID:25741868|PMID:37226891
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:0112218	developmental and epileptic encephalopathy 83		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83	PMID:25741868
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:1115	sarcoma		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:1324	lung cancer		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:1909	melanoma		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:4362	cervical cancer		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1344487	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1344487	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:28114269
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1344487	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:28114269
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309535	Nsun6	NOP2/Sun RNA methyltransferase 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309537	Myl12a	myosin light chain 12A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309537	Myl12a	myosin light chain 12A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309537	Myl12a	myosin light chain 12A	gene	DOID:1115	sarcoma		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309537	Myl12a	myosin light chain 12A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309537	Myl12a	myosin light chain 12A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309537	Myl12a	myosin light chain 12A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309537	Myl12a	myosin light chain 12A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309537	Myl12a	myosin light chain 12A	gene	DOID:9256	colorectal cancer		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:10534	stomach cancer		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:1115	sarcoma		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:1324	lung cancer		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:4362	cervical cancer		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1319928	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319928	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:26539891
1309538	Kat14	lysine acetyltransferase 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309539	Gba3	glucosylceramidase beta 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309539	Gba3	glucosylceramidase beta 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319930	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309539	Gba3	glucosylceramidase beta 3	gene	DOID:1324	lung cancer		ISO	RGD:1319930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309539	Gba3	glucosylceramidase beta 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309539	Gba3	glucosylceramidase beta 3	gene	DOID:303	substance-related disorder		ISO	RGD:1319930	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1309539	Gba3	glucosylceramidase beta 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309539	Gba3	glucosylceramidase beta 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309539	Gba3	glucosylceramidase beta 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319930	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1309540	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309540	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309540	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309540	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309540	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309540	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309540	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604290	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309540	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309540	Cstpp1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309541	B4gat1	beta-1,4-glucuronyltransferase 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1319932	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1309541	B4gat1	beta-1,4-glucuronyltransferase 1	gene	DOID:0050588	muscular dystrophy-dystroglycanopathy type B1		ISS	RGD:1615764	D	RGD:13592920	20220602	MouseDO		OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094	
1309541	B4gat1	beta-1,4-glucuronyltransferase 1	gene	DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13		ISO	RGD:1319932	D	RGD:7240710	20190315	OMIM			
1309541	B4gat1	beta-1,4-glucuronyltransferase 1	gene	DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13		ISO	RGD:1319932	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED	PMID:25741868|PMID:28492532
1309541	B4gat1	beta-1,4-glucuronyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309541	B4gat1	beta-1,4-glucuronyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1319932	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309541	B4gat1	beta-1,4-glucuronyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309541	B4gat1	beta-1,4-glucuronyltransferase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319932	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1309543	Ppp1r18	protein phosphatase 1, regulatory subunit 18	gene	DOID:1115	sarcoma		ISO	RGD:1319936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309543	Ppp1r18	protein phosphatase 1, regulatory subunit 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1319936	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309543	Ppp1r18	protein phosphatase 1, regulatory subunit 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309543	Ppp1r18	protein phosphatase 1, regulatory subunit 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309543	Ppp1r18	protein phosphatase 1, regulatory subunit 18	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319936	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309543	Ppp1r18	protein phosphatase 1, regulatory subunit 18	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309543	Ppp1r18	protein phosphatase 1, regulatory subunit 18	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319936	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309543	Ppp1r18	protein phosphatase 1, regulatory subunit 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:1059	intellectual disability		ISO	RGD:1319938	D	RGD:8554872	20170912	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:25741868
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:1115	sarcoma		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:1324	lung cancer		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:1909	melanoma		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:2234	focal epilepsy		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:35916866
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1319938	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:23647072|PMID:25741868|PMID:31981491|PMID:32530565|PMID:3591686|PMID:35916866
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309544	Zmynd8	zinc finger, MYND-type containing 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:1909	melanoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:3070	high grade glioma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:3275	thymoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1319940	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1319940	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309545	Zmym4	zinc finger MYM-type containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1319942	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder	PMID:24033266|PMID:25058219|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:28939701|PMID:29671881|PMID:31506229|PMID:31568715|PMID:32576985
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angelman-like syndrome	PMID:25741868
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1319942	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:24033266|PMID:25058219|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:28939701|PMID:29671881|PMID:31506229|PMID:31568715|PMID:32576985
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:0111481	combined oxidative phosphorylation deficiency 11		ISO	RGD:1319942	D	RGD:7240710	20140903	OMIM			
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:0111481	combined oxidative phosphorylation deficiency 11		ISO	RGD:1319942	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 | ClinVar Annotator: match by term: RMND1-related condition	PMID:17576681|PMID:23022098|PMID:24033266|PMID:25058219|PMID:25604853|PMID:25741868|PMID:26238252|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:28939701|PMID:29671881|PMID:31506229|PMID:31568715|PMID:32576985|PMID:35368817|PMID:9536098
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:10907	microcephaly		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:12712	nephronophthisis		ISO	RGD:1319942	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:24033266|PMID:25058219|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:28939701|PMID:29671881|PMID:31506229|PMID:31568715|PMID:32576985
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:1657	ventricular septal defect		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:28492532
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:23022099
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:1909	melanoma		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:480	movement disease		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1319942	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:552	pneumonia		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:28492532
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:557	kidney disease		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:630	genetic disease		ISO	RGD:1319942	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:24033266|PMID:25058219|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:28939701|PMID:29071585|PMID:29671881|PMID:31506229|PMID:31568715|PMID:32576985|PMID:9536098
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1319942	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:24033266|PMID:25058219|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:28939701|PMID:29071585|PMID:29671881|PMID:31506229|PMID:31568715|PMID:32576985
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:28492532
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319942	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27412952|PMID:28492532|PMID:29071585
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319942	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309546	Rmnd1	required for meiotic nuclear division 1 homolog	gene	DOID:9834	hyperopia		ISO	RGD:1319942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1309547	Dctn3	dynactin subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309547	Dctn3	dynactin subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1319944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309547	Dctn3	dynactin subunit 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309547	Dctn3	dynactin subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319944	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309547	Dctn3	dynactin subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309548	Cdyl2	chromodomain Y-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309548	Cdyl2	chromodomain Y-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1319946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309548	Cdyl2	chromodomain Y-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309548	Cdyl2	chromodomain Y-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319946	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309548	Cdyl2	chromodomain Y-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319946	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309548	Cdyl2	chromodomain Y-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309548	Cdyl2	chromodomain Y-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309548	Cdyl2	chromodomain Y-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309548	Cdyl2	chromodomain Y-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309549	Ttyh3	tweety family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309549	Ttyh3	tweety family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309549	Ttyh3	tweety family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309549	Ttyh3	tweety family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309549	Ttyh3	tweety family member 3	gene	DOID:1909	melanoma		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309549	Ttyh3	tweety family member 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309549	Ttyh3	tweety family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309549	Ttyh3	tweety family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309549	Ttyh3	tweety family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309549	Ttyh3	tweety family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309550	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309550	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309550	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309550	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309550	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309550	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309550	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309550	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309550	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309550	Setd3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309551	Nol8	nucleolar protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309551	Nol8	nucleolar protein 8	gene	DOID:0060058	lymphoma		ISO	RGD:1319952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309551	Nol8	nucleolar protein 8	gene	DOID:10534	stomach cancer		ISO	RGD:1319952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309551	Nol8	nucleolar protein 8	gene	DOID:1324	lung cancer		ISO	RGD:1319952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309551	Nol8	nucleolar protein 8	gene	DOID:1909	melanoma		ISO	RGD:1319952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309551	Nol8	nucleolar protein 8	gene	DOID:4362	cervical cancer		ISO	RGD:1319952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309551	Nol8	nucleolar protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309551	Nol8	nucleolar protein 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309551	Nol8	nucleolar protein 8	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319952	D	RGD:11554173	20190115	CTD		CTD Direct Evidence: marker/mechanism	PMID:30125550
1309551	Nol8	nucleolar protein 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309551	Nol8	nucleolar protein 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309551	Nol8	nucleolar protein 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309552	Ankrd54	ankyrin repeat domain 54	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309552	Ankrd54	ankyrin repeat domain 54	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309552	Ankrd54	ankyrin repeat domain 54	gene	DOID:4362	cervical cancer		ISO	RGD:1605877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309552	Ankrd54	ankyrin repeat domain 54	gene	DOID:5041	esophageal cancer		ISO	RGD:1605877	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309552	Ankrd54	ankyrin repeat domain 54	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309552	Ankrd54	ankyrin repeat domain 54	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309552	Ankrd54	ankyrin repeat domain 54	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309552	Ankrd54	ankyrin repeat domain 54	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309553	Gga3	golgi associated, gamma adaptin ear containing, ARF binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309553	Gga3	golgi associated, gamma adaptin ear containing, ARF binding protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309553	Gga3	golgi associated, gamma adaptin ear containing, ARF binding protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309553	Gga3	golgi associated, gamma adaptin ear containing, ARF binding protein 3	gene	DOID:1909	melanoma		ISO	RGD:1319955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309553	Gga3	golgi associated, gamma adaptin ear containing, ARF binding protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309553	Gga3	golgi associated, gamma adaptin ear containing, ARF binding protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309553	Gga3	golgi associated, gamma adaptin ear containing, ARF binding protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309553	Gga3	golgi associated, gamma adaptin ear containing, ARF binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309553	Gga3	golgi associated, gamma adaptin ear containing, ARF binding protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309553	Gga3	golgi associated, gamma adaptin ear containing, ARF binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309553	Gga3	golgi associated, gamma adaptin ear containing, ARF binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309553	Gga3	golgi associated, gamma adaptin ear containing, ARF binding protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:0050816	urofacial syndrome		ISO	RGD:1319957	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:1324	lung cancer		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:3275	thymoma		ISO	RGD:1319957	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319957	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:9000436	Urofacial Syndrome 2		ISO	RGD:1319957	D	RGD:7240710	20140903	OMIM			
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:9000436	Urofacial Syndrome 2		ISO	RGD:1319957	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LRIG2-related condition | ClinVar Annotator: match by term: UROFACIAL SYNDROME 2 | ClinVar Annotator: match by term: Urofacial syndrome 2	PMID:25741868|PMID:28492532
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319957	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741906
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309554	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309556	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1309556	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309556	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:0111469	combined oxidative phosphorylation deficiency 16		ISO	RGD:1319960	D	RGD:7240710	20140911	OMIM			
1309556	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:0111469	combined oxidative phosphorylation deficiency 16		ISO	RGD:1319960	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 16 | ClinVar Annotator: match by term: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | ClinVar Annotator: match by term: MRPL44-related condition	PMID:23315540|PMID:25326637|PMID:25741868|PMID:25797485|PMID:26001801|PMID:26968897|PMID:28492532|PMID:33726816
1309556	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:0111474	combined oxidative phosphorylation deficiency 1		ISO	RGD:1319960	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1	PMID:25741868
1309556	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:1596	depressive disorder		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1309556	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:1826	epilepsy		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1309556	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:2030	anxiety disorder		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1309556	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:4362	cervical cancer		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309556	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309556	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:630	genetic disease		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309556	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309556	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:9007736	Vertigo		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1309556	Mrpl44	mitochondrial ribosomal protein L44	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309557	Rnf41	ring finger protein 41	gene	DOID:1682	congenital heart disease	susceptibility	ISO	RGD:1319962	D	RGD:401827148|PMID:27323192	20230925	RGD		DNA:SNP:exon 2:c.-206T>A (human)	
1309557	Rnf41	ring finger protein 41	gene	DOID:1909	melanoma		ISO	RGD:1319962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309557	Rnf41	ring finger protein 41	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309557	Rnf41	ring finger protein 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309557	Rnf41	ring finger protein 41	gene	DOID:9007838	Myocardial Reperfusion Injury	severity	ISO	RGD:1551303	D	RGD:401827146|PMID:21312039	20230925	RGD			
1309558	B3galt6	Beta-1,3-galactosyltransferase 6	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1319963	D	RGD:7240710	20200826	OMIM			
1309558	B3galt6	Beta-1,3-galactosyltransferase 6	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1319963	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2	PMID:10862081|PMID:19492091|PMID:21031596|PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:27023906|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29620724|PMID:29931299|PMID:31674007|PMID:9683594
1309558	B3galt6	Beta-1,3-galactosyltransferase 6	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1319963	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2	PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29931299|PMID:31614862|PMID:32381727|PMID:32761602|PMID:33631843|PMID:35726512|PMID:35734427|PMID:35903967|PMID:35918752|PMID:37657630
1309558	B3galt6	Beta-1,3-galactosyltransferase 6	gene	DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1		ISO	RGD:1319963	D	RGD:11554173	20200901	CTD		CTD Direct Evidence: marker/mechanism	
1309558	B3galt6	Beta-1,3-galactosyltransferase 6	gene	DOID:0112197	spondyloepimetaphyseal dysplasia with joint laxity		ISO	RGD:1319963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity	PMID:23664117|PMID:25741868|PMID:28492532|PMID:29443383|PMID:29931299|PMID:31614862|PMID:32381727|PMID:32761602|PMID:33631843|PMID:35726512|PMID:35734427|PMID:35903967|PMID:35918752
1309558	B3galt6	Beta-1,3-galactosyltransferase 6	gene	DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1		ISO	RGD:1319963	D	RGD:7240710	20190501	OMIM			
1309558	B3galt6	Beta-1,3-galactosyltransferase 6	gene	DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1		ISO	RGD:1319963	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 | ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	PMID:23664117|PMID:24766538|PMID:25741868|PMID:28492532|PMID:29443383|PMID:32761602|PMID:33631843|PMID:35726512
1309558	B3galt6	Beta-1,3-galactosyltransferase 6	gene	DOID:0112280	spondyloepiphyseal dysplasia		ISO	RGD:1319963	D	RGD:8554872	20210504	ClinVar		ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia	PMID:24033266
1309558	B3galt6	Beta-1,3-galactosyltransferase 6	gene	DOID:630	genetic disease		ISO	RGD:1319963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:35903967|PMID:35918752
1309558	B3galt6	Beta-1,3-galactosyltransferase 6	gene	DOID:9000730	Al-Gazali Syndrome		ISO	RGD:1319963	D	RGD:7240710	20221116	OMIM			
1309558	B3galt6	Beta-1,3-galactosyltransferase 6	gene	DOID:9000730	Al-Gazali Syndrome		ISO	RGD:1319963	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AL-GAZALI SYNDROME | ClinVar Annotator: match by term: Al-Gazali syndrome	PMID:23664117|PMID:25741868|PMID:28492532
1309559	Gpr68	G protein-coupled receptor 68	gene	DOID:0080600	COVID-19		ISO	RGD:1319965	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309559	Gpr68	G protein-coupled receptor 68	gene	DOID:0080960	amelogenesis imperfecta type 2A6		ISO	RGD:1319965	D	RGD:7240710	20190315	OMIM			
1309559	Gpr68	G protein-coupled receptor 68	gene	DOID:0080960	amelogenesis imperfecta type 2A6		ISO	RGD:1319965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6	PMID:25741868|PMID:27693231
1309559	Gpr68	G protein-coupled receptor 68	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319965	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309559	Gpr68	G protein-coupled receptor 68	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309561	Rnf145	ring finger protein 145	gene	DOID:10534	stomach cancer		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309561	Rnf145	ring finger protein 145	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602832	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309561	Rnf145	ring finger protein 145	gene	DOID:1115	sarcoma		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309561	Rnf145	ring finger protein 145	gene	DOID:1324	lung cancer		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309561	Rnf145	ring finger protein 145	gene	DOID:1909	melanoma		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309561	Rnf145	ring finger protein 145	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309561	Rnf145	ring finger protein 145	gene	DOID:3275	thymoma		ISO	RGD:1602832	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309561	Rnf145	ring finger protein 145	gene	DOID:4362	cervical cancer		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309561	Rnf145	ring finger protein 145	gene	DOID:5041	esophageal cancer		ISO	RGD:1602832	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309561	Rnf145	ring finger protein 145	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309561	Rnf145	ring finger protein 145	gene	DOID:6039	uveal melanoma		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309561	Rnf145	ring finger protein 145	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602832	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309561	Rnf145	ring finger protein 145	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309561	Rnf145	ring finger protein 145	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309561	Rnf145	ring finger protein 145	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309562	Iscu	iron-sulfur cluster assembly enzyme	gene	DOID:10591	pre-eclampsia		ISO	RGD:1607067	D	RGD:155631283|PMID:22840297	20221031	RGD		mRNA:decreased expression:chorionic villus (human)	
1309562	Iscu	iron-sulfur cluster assembly enzyme	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309562	Iscu	iron-sulfur cluster assembly enzyme	gene	DOID:423	myopathy		ISO	RGD:1607067	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:28492532
1309562	Iscu	iron-sulfur cluster assembly enzyme	gene	DOID:4467	clear cell renal cell carcinoma	disease_progression	ISO	RGD:1607067	D	RGD:155260320|PMID:23449350	20220930	RGD		mRNA,protein:decreased expression:kidney (human)	
1309562	Iscu	iron-sulfur cluster assembly enzyme	gene	DOID:630	genetic disease		ISO	RGD:1607067	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309562	Iscu	iron-sulfur cluster assembly enzyme	gene	DOID:9006323	Myopathy with Lactic Acidosis, Hereditary		ISO	RGD:1607067	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309562	Iscu	iron-sulfur cluster assembly enzyme	gene	DOID:9006323	Myopathy with Lactic Acidosis, Hereditary		ISO	RGD:1607067	D	RGD:7240710	20130221	OMIM			
1309562	Iscu	iron-sulfur cluster assembly enzyme	gene	DOID:9006323	Myopathy with Lactic Acidosis, Hereditary		ISO	RGD:1607067	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ISCU-related condition | ClinVar Annotator: match by term: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY | ClinVar Annotator: match by term: Myopathy with lactic acidosis, hereditary	PMID:18296749|PMID:18304497|PMID:19567699|PMID:19846308|PMID:20206689|PMID:24573684|PMID:25741868|PMID:28492532|PMID:30209894
1309565	Pbk	PDZ binding kinase	gene	DOID:1115	sarcoma		ISO	RGD:1351038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309565	Pbk	PDZ binding kinase	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1351038	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1309565	Pbk	PDZ binding kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1351038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309565	Pbk	PDZ binding kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309565	Pbk	PDZ binding kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351038	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1309565	Pbk	PDZ binding kinase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309565	Pbk	PDZ binding kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309567	Plppr5	phospholipid phosphatase related 5	gene	DOID:3275	thymoma		ISO	RGD:1604517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309569	Disp2	dispatched RND transporter family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309569	Disp2	dispatched RND transporter family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319977	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309569	Disp2	dispatched RND transporter family member 2	gene	DOID:1909	melanoma		ISO	RGD:1319977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309569	Disp2	dispatched RND transporter family member 2	gene	DOID:3275	thymoma		ISO	RGD:1319977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309569	Disp2	dispatched RND transporter family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309569	Disp2	dispatched RND transporter family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309569	Disp2	dispatched RND transporter family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309570	Specc1l	sperm antigen with calponin homology and coiled-coil domains 1-like	gene	DOID:0080698	Teebi hypertelorism syndrome 1		ISO	RGD:1603682	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309570	Specc1l	sperm antigen with calponin homology and coiled-coil domains 1-like	gene	DOID:0080698	Teebi hypertelorism syndrome 1		ISO	RGD:1603682	D	RGD:7240710	20220608	OMIM			
1309570	Specc1l	sperm antigen with calponin homology and coiled-coil domains 1-like	gene	DOID:0080698	Teebi hypertelorism syndrome 1		ISS	RGD:1332016	D	RGD:13592920	20230718	MouseDO		OMIM:145420	
1309570	Specc1l	sperm antigen with calponin homology and coiled-coil domains 1-like	gene	DOID:0081073	Teebi hypertelorism syndrome		ISO	RGD:15179696	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Teebi hypertelorism syndrome	PMID:28492532
1309570	Specc1l	sperm antigen with calponin homology and coiled-coil domains 1-like	gene	DOID:0111706	oblique facial clefting 1		ISO	RGD:1603682	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309570	Specc1l	sperm antigen with calponin homology and coiled-coil domains 1-like	gene	DOID:0111706	oblique facial clefting 1		ISO	RGD:1603682	D	RGD:7240710	20141015	OMIM			
1309570	Specc1l	sperm antigen with calponin homology and coiled-coil domains 1-like	gene	DOID:10283	prostate cancer		ISO	RGD:1603682	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309570	Specc1l	sperm antigen with calponin homology and coiled-coil domains 1-like	gene	DOID:674	cleft palate		ISS	RGD:1332016	D	RGD:13592920	20220630	MouseDO			
1309571	G3bp2	G3BP stress granule assembly factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309571	G3bp2	G3BP stress granule assembly factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309571	G3bp2	G3BP stress granule assembly factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309571	G3bp2	G3BP stress granule assembly factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1602228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309571	G3bp2	G3BP stress granule assembly factor 2	gene	DOID:1909	melanoma		ISO	RGD:1602228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309571	G3bp2	G3BP stress granule assembly factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309571	G3bp2	G3BP stress granule assembly factor 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309571	G3bp2	G3BP stress granule assembly factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309571	G3bp2	G3BP stress granule assembly factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309572	Extl1	exostosin-like glycosyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309572	Extl1	exostosin-like glycosyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1319981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309572	Extl1	exostosin-like glycosyltransferase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309572	Extl1	exostosin-like glycosyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1319981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309572	Extl1	exostosin-like glycosyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319981	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309572	Extl1	exostosin-like glycosyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309572	Extl1	exostosin-like glycosyltransferase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319981	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309572	Extl1	exostosin-like glycosyltransferase 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1309572	Extl1	exostosin-like glycosyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309573	Aurkc	aurora kinase C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309573	Aurkc	aurora kinase C	gene	DOID:0070183	spermatogenic failure 5		ISO	RGD:1343852	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309573	Aurkc	aurora kinase C	gene	DOID:0070183	spermatogenic failure 5		ISO	RGD:1343852	D	RGD:7240710	20190315	OMIM			
1309573	Aurkc	aurora kinase C	gene	DOID:0070183	spermatogenic failure 5		ISO	RGD:1343852	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Infertility associated with multi-tailed spermatozoa and excessive DNA | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 5 | ClinVar Annotator: match by term: spermatogenic failure 5	PMID:19147683|PMID:22888167|PMID:24033266|PMID:25219909|PMID:25741868|PMID:25755131|PMID:26341096|PMID:27106102|PMID:31455599
1309573	Aurkc	aurora kinase C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309573	Aurkc	aurora kinase C	gene	DOID:12336	male infertility		ISO	RGD:1343852	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17435757
1309573	Aurkc	aurora kinase C	gene	DOID:3275	thymoma		ISO	RGD:1343852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309573	Aurkc	aurora kinase C	gene	DOID:4362	cervical cancer		ISO	RGD:1343852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309573	Aurkc	aurora kinase C	gene	DOID:630	genetic disease		ISO	RGD:1343852	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309576	Tmem220	transmembrane protein 220	gene	DOID:1115	sarcoma		ISO	RGD:1604450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309576	Tmem220	transmembrane protein 220	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309577	Pi15	peptidase inhibitor 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309577	Pi15	peptidase inhibitor 15	gene	DOID:1115	sarcoma		ISO	RGD:1319988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309577	Pi15	peptidase inhibitor 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309578	Acsm5	acyl-CoA synthetase medium-chain family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309578	Acsm5	acyl-CoA synthetase medium-chain family member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1603027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309578	Acsm5	acyl-CoA synthetase medium-chain family member 5	gene	DOID:1115	sarcoma		ISO	RGD:1603027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309578	Acsm5	acyl-CoA synthetase medium-chain family member 5	gene	DOID:1909	melanoma		ISO	RGD:1603027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309578	Acsm5	acyl-CoA synthetase medium-chain family member 5	gene	DOID:3275	thymoma		ISO	RGD:1603027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309578	Acsm5	acyl-CoA synthetase medium-chain family member 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309578	Acsm5	acyl-CoA synthetase medium-chain family member 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309578	Acsm5	acyl-CoA synthetase medium-chain family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309578	Acsm5	acyl-CoA synthetase medium-chain family member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309578	Acsm5	acyl-CoA synthetase medium-chain family member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309578	Acsm5	acyl-CoA synthetase medium-chain family member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309579	Dtnb	dystrobrevin, beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309579	Dtnb	dystrobrevin, beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309579	Dtnb	dystrobrevin, beta	gene	DOID:10534	stomach cancer		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309579	Dtnb	dystrobrevin, beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309579	Dtnb	dystrobrevin, beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309579	Dtnb	dystrobrevin, beta	gene	DOID:3275	thymoma		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309579	Dtnb	dystrobrevin, beta	gene	DOID:4362	cervical cancer		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309579	Dtnb	dystrobrevin, beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309579	Dtnb	dystrobrevin, beta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309579	Dtnb	dystrobrevin, beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309579	Dtnb	dystrobrevin, beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309579	Dtnb	dystrobrevin, beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309579	Dtnb	dystrobrevin, beta	gene	DOID:9256	colorectal cancer		ISO	RGD:1319991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309580	Ddx51	DEAD-box helicase 51	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309580	Ddx51	DEAD-box helicase 51	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309580	Ddx51	DEAD-box helicase 51	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309580	Ddx51	DEAD-box helicase 51	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1319993	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:26928227
1309580	Ddx51	DEAD-box helicase 51	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309580	Ddx51	DEAD-box helicase 51	gene	DOID:3070	high grade glioma		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309580	Ddx51	DEAD-box helicase 51	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309580	Ddx51	DEAD-box helicase 51	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319993	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309580	Ddx51	DEAD-box helicase 51	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309580	Ddx51	DEAD-box helicase 51	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309580	Ddx51	DEAD-box helicase 51	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309581	Tmprss9	transmembrane serine protease 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309581	Tmprss9	transmembrane serine protease 9	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1617167	D	RGD:13592920	20200402	MouseDO			
1309581	Tmprss9	transmembrane serine protease 9	gene	DOID:1115	sarcoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309581	Tmprss9	transmembrane serine protease 9	gene	DOID:1909	melanoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309581	Tmprss9	transmembrane serine protease 9	gene	DOID:3070	high grade glioma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309581	Tmprss9	transmembrane serine protease 9	gene	DOID:3275	thymoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309581	Tmprss9	transmembrane serine protease 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319995	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309581	Tmprss9	transmembrane serine protease 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1319995	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309581	Tmprss9	transmembrane serine protease 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309581	Tmprss9	transmembrane serine protease 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309581	Tmprss9	transmembrane serine protease 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309581	Tmprss9	transmembrane serine protease 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319995	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1309582	Zyg11a	zyg-11 family member A, cell cycle regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309582	Zyg11a	zyg-11 family member A, cell cycle regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1601783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309582	Zyg11a	zyg-11 family member A, cell cycle regulator	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309582	Zyg11a	zyg-11 family member A, cell cycle regulator	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1601783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1309582	Zyg11a	zyg-11 family member A, cell cycle regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309582	Zyg11a	zyg-11 family member A, cell cycle regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309582	Zyg11a	zyg-11 family member A, cell cycle regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309582	Zyg11a	zyg-11 family member A, cell cycle regulator	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1601783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1309582	Zyg11a	zyg-11 family member A, cell cycle regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309582	Zyg11a	zyg-11 family member A, cell cycle regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309583	Tfeb	transcription factor EB	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309583	Tfeb	transcription factor EB	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309583	Tfeb	transcription factor EB	gene	DOID:1115	sarcoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309583	Tfeb	transcription factor EB	gene	DOID:1324	lung cancer		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309583	Tfeb	transcription factor EB	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309583	Tfeb	transcription factor EB	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309583	Tfeb	transcription factor EB	gene	DOID:5041	esophageal cancer		ISO	RGD:1319997	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309583	Tfeb	transcription factor EB	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309583	Tfeb	transcription factor EB	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309583	Tfeb	transcription factor EB	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309583	Tfeb	transcription factor EB	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1319997	D	RGD:11554173	20220308	CTD		CTD Direct Evidence: therapeutic	PMID:34562559
1309583	Tfeb	transcription factor EB	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309583	Tfeb	transcription factor EB	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319999	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1309584	Irak2	interleukin-1 receptor-associated kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309585	Sap30l	SAP30-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309585	Sap30l	SAP30-like	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1606218	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1309585	Sap30l	SAP30-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309585	Sap30l	SAP30-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309585	Sap30l	SAP30-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309587	Tent4b	terminal nucleotidyltransferase 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309587	Tent4b	terminal nucleotidyltransferase 4B	gene	DOID:10534	stomach cancer		ISO	RGD:1320003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309587	Tent4b	terminal nucleotidyltransferase 4B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309587	Tent4b	terminal nucleotidyltransferase 4B	gene	DOID:1909	melanoma		ISO	RGD:1320003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309587	Tent4b	terminal nucleotidyltransferase 4B	gene	DOID:3275	thymoma		ISO	RGD:1320003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309587	Tent4b	terminal nucleotidyltransferase 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1320003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309587	Tent4b	terminal nucleotidyltransferase 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309587	Tent4b	terminal nucleotidyltransferase 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309587	Tent4b	terminal nucleotidyltransferase 4B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309587	Tent4b	terminal nucleotidyltransferase 4B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309588	Ubiad1	UbiA prenyltransferase domain containing 1	gene	DOID:0060456	Schnyder corneal dystrophy		ISO	RGD:1603400	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309588	Ubiad1	UbiA prenyltransferase domain containing 1	gene	DOID:0060456	Schnyder corneal dystrophy		ISO	RGD:1603400	D	RGD:7240710	20130221	OMIM			
1309588	Ubiad1	UbiA prenyltransferase domain containing 1	gene	DOID:0060456	Schnyder corneal dystrophy		ISO	RGD:1603400	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, SCHNYDER | ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy	PMID:17668063|PMID:17960116|PMID:18176953|PMID:20505825|PMID:21572737|PMID:23328470|PMID:23564352|PMID:25741868|PMID:26748743|PMID:28492532|PMID:29977031|PMID:30084067|PMID:30223810|PMID:31323021
1309588	Ubiad1	UbiA prenyltransferase domain containing 1	gene	DOID:0060456	Schnyder corneal dystrophy		ISS	RGD:1551920	D	RGD:13592920	20230718	MouseDO		OMIM:121800	
1309588	Ubiad1	UbiA prenyltransferase domain containing 1	gene	DOID:2566	corneal dystrophy		ISO	RGD:1603400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy	
1309588	Ubiad1	UbiA prenyltransferase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309588	Ubiad1	UbiA prenyltransferase domain containing 1	gene	DOID:9002860	Cardiac Edema		ISO	RGD:1603400	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:23533172
1309588	Ubiad1	UbiA prenyltransferase domain containing 1	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1603400	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:23533172
1309589	Sprr3	small proline-rich protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309590	Etv5	ETS variant transcription factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309590	Etv5	ETS variant transcription factor 5	gene	DOID:1909	melanoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309590	Etv5	ETS variant transcription factor 5	gene	DOID:4362	cervical cancer		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309590	Etv5	ETS variant transcription factor 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309590	Etv5	ETS variant transcription factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309590	Etv5	ETS variant transcription factor 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320007	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27783944
1309590	Etv5	ETS variant transcription factor 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309590	Etv5	ETS variant transcription factor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309590	Etv5	ETS variant transcription factor 5	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:1320007	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27783944
1309590	Etv5	ETS variant transcription factor 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309590	Etv5	ETS variant transcription factor 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309590	Etv5	ETS variant transcription factor 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309591	Apol2	apolipoprotein L2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309591	Apol2	apolipoprotein L2	gene	DOID:10534	stomach cancer		ISO	RGD:1320008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309591	Apol2	apolipoprotein L2	gene	DOID:1115	sarcoma		ISO	RGD:1320008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309591	Apol2	apolipoprotein L2	gene	DOID:1909	melanoma		ISO	RGD:1320008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309591	Apol2	apolipoprotein L2	gene	DOID:302	substance abuse		ISO	RGD:1320008	D	RGD:597830175|PMID:17205118	20250715	RGD		mRNA:increased expression:brain	
1309591	Apol2	apolipoprotein L2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309591	Apol2	apolipoprotein L2	gene	DOID:5062	phencyclidine abuse		ISO	RGD:1320008	D	RGD:11554173	20210413	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
1309591	Apol2	apolipoprotein L2	gene	DOID:5419	schizophrenia		ISO	RGD:1320008	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309591	Apol2	apolipoprotein L2	gene	DOID:5419	schizophrenia		ISO	RGD:1320008	D	RGD:7240710	20210324	OMIM			
1309591	Apol2	apolipoprotein L2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309591	Apol2	apolipoprotein L2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309591	Apol2	apolipoprotein L2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309591	Apol2	apolipoprotein L2	gene	DOID:9002644	Premature Aging		ISO	RGD:1320008	D	RGD:626167418|PMID:31466081	20250826	RGD		associated with alcohol use disorder; DNA:SNP: :rs916264	
1309591	Apol2	apolipoprotein L2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1320008	D	RGD:11554173	20210413	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
1309591	Apol2	apolipoprotein L2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309591	Apol2	apolipoprotein L2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309591	Apol2	apolipoprotein L2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309591	Apol2	apolipoprotein L2	gene	DOID:9505	cannabis abuse		ISO	RGD:1320008	D	RGD:11554173	20210413	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
1309592	Aopep	aminopeptidase O	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309592	Aopep	aminopeptidase O	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1320010	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
1309592	Aopep	aminopeptidase O	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1320010	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:22544366|PMID:29892015|PMID:30061737
1309592	Aopep	aminopeptidase O	gene	DOID:0060938	dystonia 31		ISO	RGD:1320010	D	RGD:7240710	20211124	OMIM			
1309592	Aopep	aminopeptidase O	gene	DOID:0060938	dystonia 31		ISO	RGD:1320010	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSTONIA 31 | ClinVar Annotator: match by term: Dystonia 31	PMID:25741868|PMID:35306330
1309592	Aopep	aminopeptidase O	gene	DOID:0111087	Fanconi anemia complementation group C		ISO	RGD:10041338|RGD:10405768|RGD:10405941|RGD:10405958|RGD:10767131|RGD:10767266|RGD:10767750|RGD:10767810|RGD:11090859|RGD:11094672|RGD:11347188|RGD:11349059|RGD:11351455|RGD:11551753|RGD:126732835|RGD:126748029|RGD:126754934|RGD:126910223|RGD:127299995|RGD:12835931|RGD:12839086|RGD:12840579|RGD:12882619|RGD:12898898|RGD:12901513|RGD:12901752|RGD:12902443|RGD:13483346|RGD:13483964|RGD:13484928|RGD:13496842|RGD:13538506|RGD:13612661|RGD:13803480|RGD:13816273|RGD:13818912|RGD:13820231|RGD:14705824|RGD:150494595|RGD:15129912|RGD:15130807|RGD:151878436|RGD:152121163|RGD:152123991|RGD:21067130|RGD:25322483|RGD:25324145|RGD:25329956|RGD:38457232|RGD:8658040|RGD:8658042|RGD:8691028|RGD:8691030|RGD:9834384|RGD:9834395|RGD:9834402|RGD:9834404	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group C | ClinVar Annotator: match by term: Fanconi anemia, group C	PMID:25741868|PMID:28492532
1309592	Aopep	aminopeptidase O	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309592	Aopep	aminopeptidase O	gene	DOID:1115	sarcoma		ISO	RGD:1320010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309592	Aopep	aminopeptidase O	gene	DOID:1324	lung cancer		ISO	RGD:1320010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309592	Aopep	aminopeptidase O	gene	DOID:13636	Fanconi anemia		ISO	RGD:1320010	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:11050007|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17703323|PMID:17924555|PMID:19557015|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22382802|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31589614|PMID:31721781|PMID:31874108|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33471991|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:13636	Fanconi anemia		ISO	RGD:1320010	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:11050007|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28717661|PMID:28767289|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31589614|PMID:31721781|PMID:31874108|PMID:32496904|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33471991|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:13636	Fanconi anemia		ISO	RGD:1320010	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:11050007|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33471991|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:13636	Fanconi anemia		ISO	RGD:1320010	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:13636	Fanconi anemia		ISO	RGD:1320010	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:13636	Fanconi anemia		ISO	RGD:1320010	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:35264596|PMID:36315513|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:13636	Fanconi anemia		ISO	RGD:1320010	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15277238|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28878254|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:35264596|PMID:35739269|PMID:36315513|PMID:36474027|PMID:37349538|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:1612	breast cancer		ISO	RGD:1320010	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:08128956|PMID:08844212|PMID:09616183|PMID:14695169|PMID:15695377|PMID:17924555|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28492532|PMID:29654263|PMID:29922827|PMID:30031030|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:33471991|PMID:7689011|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:1612	breast cancer		ISO	RGD:1320010	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:08128956|PMID:08844212|PMID:09616183|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17924555|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28492532|PMID:29654263|PMID:29922827|PMID:30031030|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:32885271|PMID:33471991|PMID:34326862|PMID:35264596|PMID:7689011|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309592	Aopep	aminopeptidase O	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309592	Aopep	aminopeptidase O	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1320010	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532|PMID:32566746
1309592	Aopep	aminopeptidase O	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309592	Aopep	aminopeptidase O	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309592	Aopep	aminopeptidase O	gene	DOID:630	genetic disease		ISO	RGD:1320010	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309592	Aopep	aminopeptidase O	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1320010	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1309592	Aopep	aminopeptidase O	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309592	Aopep	aminopeptidase O	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309592	Aopep	aminopeptidase O	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08844212|PMID:08882868|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20869034|PMID:21520333|PMID:22720145|PMID:23028338|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30967997|PMID:31589614|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:8103176|PMID:8844212|PMID:8882868|PMID:9207444
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30967997|PMID:31589614|PMID:32496904|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33471991|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29641532|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30967997|PMID:31589614|PMID:31784482|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33471991|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:35264596|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:35264596|PMID:36315513|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:34326862|PMID:35264596|PMID:36315513|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15277238|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28775315|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:34326862|PMID:34426522|PMID:34445631|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15277238|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28775315|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15277238|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28775315|PMID:28878254|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15277238|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28775315|PMID:28878254|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:35264596|PMID:35739269|PMID:36315513|PMID:36474027|PMID:37349538|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15277238|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16445838|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28775315|PMID:28878254|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32620917|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33314633|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:35264596|PMID:35626031|PMID:35739269|PMID:36315513|PMID:36474027|PMID:36969007|PMID:37349538|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15277238|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16445838|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28775315|PMID:28878254|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31867841|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32620917|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33314633|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:35171259|PMID:35264596|PMID:35626031|PMID:35739269|PMID:36315513|PMID:36474027|PMID:36744932|PMID:36969007|PMID:37349538|PMID:37865086|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309592	Aopep	aminopeptidase O	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320010	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15277238|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16445838|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24390348|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28762789|PMID:28767289|PMID:28775315|PMID:28878254|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31867841|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32620917|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33314633|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:35171259|PMID:35264596|PMID:35626031|PMID:35739269|PMID:36315513|PMID:36474027|PMID:36744932|PMID:36969007|PMID:37349538|PMID:37865086|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183
1309593	Dlx1	distal-less homeobox 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320012	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21302352
1309593	Dlx1	distal-less homeobox 1	gene	DOID:1115	sarcoma		ISO	RGD:1320012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309593	Dlx1	distal-less homeobox 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320012	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18728693
1309593	Dlx1	distal-less homeobox 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309593	Dlx1	distal-less homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309593	Dlx1	distal-less homeobox 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320012	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9187081
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1320014	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868|PMID:27596865|PMID:28492532|PMID:31456290
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:0112299	axial spondylometaphyseal dysplasia		ISO	RGD:1320014	D	RGD:7240710	20200506	OMIM			
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:0112299	axial spondylometaphyseal dysplasia		ISO	RGD:1320014	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia | ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, axial	PMID:23105016|PMID:25741868|PMID:26974433|PMID:27548899|PMID:28492532|PMID:38153748
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:10534	stomach cancer		ISO	RGD:1320014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:23105016|PMID:25741868|PMID:26167768|PMID:28041643|PMID:28492532|PMID:31964843|PMID:32581362|PMID:36909829
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320014	D	RGD:8554872	20200310	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:3275	thymoma		ISO	RGD:1320014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1320014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27455348
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1320014	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:5041	esophageal cancer		ISO	RGD:1320014	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:5679	retinal disease		ISO	RGD:1320014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:25741868|PMID:26167768|PMID:26974433|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532|PMID:28771251|PMID:31429209|PMID:31980526|PMID:32036094|PMID:32531858|PMID:32581362|PMID:34426522|PMID:34795310|PMID:34906470|PMID:35055178
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:630	genetic disease		ISO	RGD:1320014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:8501	fundus dystrophy		ISO	RGD:1320014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:17576681|PMID:23105016|PMID:25741868|PMID:26167768|PMID:26992781|PMID:27548899|PMID:28041643|PMID:28492532|PMID:30029497|PMID:3203609|PMID:32036094|PMID:3253185|PMID:32531858|PMID:3258136|PMID:33090715|PMID:33307614|PMID:9536098
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:9007941	Retinal Dystrophy with or without Macular Staphyloma		ISO	RGD:1320014	D	RGD:7240710	20190315	OMIM			
1309594	Cfap410	cilia and flagella associated protein 410	gene	DOID:9007941	Retinal Dystrophy with or without Macular Staphyloma		ISO	RGD:1320014	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CFAP410-related condition | ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH MACULAR STAPHYLOMA | ClinVar Annotator: match by term: Retinal dystrophy with or without macular staphyloma	PMID:17576681|PMID:23105016|PMID:25741868|PMID:26167768|PMID:26294103|PMID:28492532|PMID:34915818|PMID:9536098
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:10534	stomach cancer		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:1324	lung cancer		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:1909	melanoma		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:3275	thymoma		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868|PMID:28492532
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:3347	osteosarcoma		ISO	RGD:1320016	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14767549
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:3371	chondrosarcoma		ISO	RGD:1320016	D	RGD:1599281|PMID:10602519	20070129	RGD		extraskeletal myxoid chondrosarcomas (EMC)	
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:4549	extraskeletal myxoid chondrosarcoma		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Extraskeletal myxoid chondrosarcoma | ClinVar Annotator: match by term: TAF15-related condition	PMID:21438137|PMID:25174650|PMID:25299611|PMID:25382069|PMID:25741868|PMID:28492532|PMID:31325016
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:6039	uveal melanoma		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1320016	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:9000918	Disease Progression		ISO	RGD:1320016	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309595	Taf15	TATA-box binding protein associated factor 15	gene	DOID:9256	colorectal cancer		ISO	RGD:1320016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
1309597	Tubgcp2	tubulin gamma complex component 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309597	Tubgcp2	tubulin gamma complex component 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309597	Tubgcp2	tubulin gamma complex component 2	gene	DOID:0081266	complex cortical dysplasia with other brain malformations 15		ISO	RGD:1320019	D	RGD:7240710	20200226	OMIM			
1309597	Tubgcp2	tubulin gamma complex component 2	gene	DOID:0081266	complex cortical dysplasia with other brain malformations 15		ISO	RGD:1320019	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 15 | ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | ClinVar Annotator: match by term: TUBGCP2-related condition	PMID:25741868|PMID:28492532|PMID:31630790|PMID:32368696
1309597	Tubgcp2	tubulin gamma complex component 2	gene	DOID:1115	sarcoma		ISO	RGD:1320019	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309597	Tubgcp2	tubulin gamma complex component 2	gene	DOID:1324	lung cancer		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309597	Tubgcp2	tubulin gamma complex component 2	gene	DOID:1909	melanoma		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309597	Tubgcp2	tubulin gamma complex component 2	gene	DOID:3275	thymoma		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309597	Tubgcp2	tubulin gamma complex component 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309597	Tubgcp2	tubulin gamma complex component 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320019	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309597	Tubgcp2	tubulin gamma complex component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309597	Tubgcp2	tubulin gamma complex component 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309597	Tubgcp2	tubulin gamma complex component 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309598	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309598	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309598	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:0050946	Charlevoix-Saguenay spastic ataxia		ISS	RGD:1320022	D	RGD:13592920	20190718	MouseDO		OMIM:270550	
1309598	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309598	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320021	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
1309598	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309598	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309598	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309598	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309598	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309598	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320021	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309598	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309598	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309598	Ankfy1	ankyrin repeat and FYVE domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309599	Akr1e2	aldo-keto reductase family 1, member E2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309599	Akr1e2	aldo-keto reductase family 1, member E2	gene	DOID:10534	stomach cancer		ISO	RGD:1320023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309599	Akr1e2	aldo-keto reductase family 1, member E2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309599	Akr1e2	aldo-keto reductase family 1, member E2	gene	DOID:1115	sarcoma		ISO	RGD:1320023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309599	Akr1e2	aldo-keto reductase family 1, member E2	gene	DOID:1324	lung cancer		ISO	RGD:1320023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309599	Akr1e2	aldo-keto reductase family 1, member E2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309599	Akr1e2	aldo-keto reductase family 1, member E2	gene	DOID:4362	cervical cancer		ISO	RGD:1320023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309599	Akr1e2	aldo-keto reductase family 1, member E2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320023	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309599	Akr1e2	aldo-keto reductase family 1, member E2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309599	Akr1e2	aldo-keto reductase family 1, member E2	gene	DOID:6039	uveal melanoma		ISO	RGD:1320023	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309599	Akr1e2	aldo-keto reductase family 1, member E2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309599	Akr1e2	aldo-keto reductase family 1, member E2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309599	Akr1e2	aldo-keto reductase family 1, member E2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309600	Ak7	adenylate kinase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309600	Ak7	adenylate kinase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309600	Ak7	adenylate kinase 7	gene	DOID:0111928	spermatogenic failure 27		ISO	RGD:1320025	D	RGD:7240710	20190315	OMIM			
1309600	Ak7	adenylate kinase 7	gene	DOID:0111928	spermatogenic failure 27		ISO	RGD:1320025	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: AK7-related condition | ClinVar Annotator: match by term: Spermatogenic failure 27	PMID:25741868|PMID:28492532|PMID:29365104
1309600	Ak7	adenylate kinase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1320025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309600	Ak7	adenylate kinase 7	gene	DOID:10908	hydrocephalus		ISS	RGD:1617449	D	RGD:13592920	20180518	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
1309600	Ak7	adenylate kinase 7	gene	DOID:1324	lung cancer		ISO	RGD:1320025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309600	Ak7	adenylate kinase 7	gene	DOID:1909	melanoma		ISO	RGD:1320025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309600	Ak7	adenylate kinase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1320025	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309600	Ak7	adenylate kinase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309600	Ak7	adenylate kinase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309601	Lrrc8d	leucine rich repeat containing 8 VRAC subunit D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309601	Lrrc8d	leucine rich repeat containing 8 VRAC subunit D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309601	Lrrc8d	leucine rich repeat containing 8 VRAC subunit D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309603	Csta	cystatin A	gene	DOID:0070523	peeling skin syndrome 4		ISO	RGD:1320029	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309603	Csta	cystatin A	gene	DOID:0070523	peeling skin syndrome 4		ISO	RGD:1320029	D	RGD:7240710	20161116	OMIM			
1309603	Csta	cystatin A	gene	DOID:0070523	peeling skin syndrome 4		ISO	RGD:1320029	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PEELING SKIN SYNDROME 4 | ClinVar Annotator: match by term: Peeling skin syndrome 4	PMID:21944047|PMID:25741868
1309603	Csta	cystatin A	gene	DOID:3068	glioblastoma		ISO	RGD:1320029	D	RGD:11554173	20161122	CTD		CTD Direct Evidence: marker/mechanism	PMID:22287159
1309603	Csta	cystatin A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309603	Csta	cystatin A	gene	DOID:630	genetic disease		ISO	RGD:1320029	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309603	Csta	cystatin A	gene	DOID:9000918	Disease Progression		ISO	RGD:1320029	D	RGD:11554173	20161122	CTD		CTD Direct Evidence: marker/mechanism	PMID:20461718|PMID:22287159
1309603	Csta	cystatin A	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1320029	D	RGD:11554173	20161122	CTD		CTD Direct Evidence: marker/mechanism	PMID:20461718
1309603	Csta	cystatin A	gene	DOID:9009382	eosinophilic chronic rhinosinusitis		ISO	RGD:1320029	D	RGD:628359037|PMID:27779422	20250919	RGD		mRNA, protein:decreased expression:nasal cavity epithelium	
1309603	Csta	cystatin A	gene	DOID:9009382	eosinophilic chronic rhinosinusitis		ISO	RGD:1322022	D	RGD:628359037|PMID:27779422	20250919	RGD		protein:decreased expression:nose, oronasal secretion	
1309604	Tbccd1	TBCC domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309604	Tbccd1	TBCC domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309604	Tbccd1	TBCC domain containing 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1605661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309604	Tbccd1	TBCC domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309604	Tbccd1	TBCC domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309604	Tbccd1	TBCC domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309604	Tbccd1	TBCC domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309604	Tbccd1	TBCC domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309604	Tbccd1	TBCC domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320032	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320032	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309605	Mindy3	MINDY lysine 48 deubiquitinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:0051064	left ventricular failure	disease_progression	ISO	RGD:1320034	D	RGD:401793725|PMID:29872082	20230829	RGD		protein:increased expression: blood serum (human)	
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1320034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:1936	atherosclerosis	disease_progression	ISO	RGD:1320035	D	RGD:401794447|PMID:19307695	20230829	RGD		protein:increased activity:liver (mouse)	
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1320034	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1320034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:1320034	D	RGD:401793727|PMID:28174167	20230815	RGD		protein:increased expression:blood serum (human)	
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1320034	D	RGD:2299120|PMID:17070307	20080812	RGD		mRNA:increased expression:kidney	
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1320034	D	RGD:401793726|PMID:15682440	20230815	RGD		mRNA:increased expression:kidney (human)	
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320034	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:7693	abdominal aortic aneurysm	susceptibility	ISO	RGD:1320034	D	RGD:329853746|PMID:18635682	20230829	RGD		DNA:SNPs,haplotypes::	
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:9001820	Pulmonary Arterial Hypertension		IEP		D	RGD:401793717|PMID:27581040	20230815	RGD		protein:increased activity,altered activity:lung, liver (rat)	
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:9006474	Arterial Occlusive Diseases	disease_progression	ISO	RGD:1320034	D	RGD:401793723|PMID:22721676	20230815	RGD		mRNA,protein:increased expression:leg blood vessel, blood serum (human)	
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:9006646	Metabolic Syndrome		IEP		D	RGD:401793724|PMID:25719492	20230815	RGD		mRNA,protein:increased expression,increased activity:adipose tissue (rat)	
1309606	Nnmt	nicotinamide N-methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309607	Emilin3	elastin microfibril interfacer 3	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1320036	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1309607	Emilin3	elastin microfibril interfacer 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309607	Emilin3	elastin microfibril interfacer 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309610	Dapl1	death associated protein-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309610	Dapl1	death associated protein-like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309612	B3gnt4	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309612	B3gnt4	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	gene	DOID:1909	melanoma		ISO	RGD:1320043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309612	B3gnt4	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:10534	stomach cancer		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:1115	sarcoma		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:1324	lung cancer		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:2394	ovarian cancer		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:4362	cervical cancer		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:5041	esophageal cancer		ISO	RGD:1320045	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309613	Usp40	ubiquitin specific peptidase 40	gene	DOID:9256	colorectal cancer		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309614	Dtymk	deoxythymidylate kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309614	Dtymk	deoxythymidylate kinase	gene	DOID:1115	sarcoma		ISO	RGD:1320047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309614	Dtymk	deoxythymidylate kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1320047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309614	Dtymk	deoxythymidylate kinase	gene	DOID:9000359	NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY		ISO	RGD:1320047	D	RGD:7240710	20220629	OMIM			
1309614	Dtymk	deoxythymidylate kinase	gene	DOID:9000359	NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY		ISO	RGD:1320047	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with progressive microcephaly	PMID:25741868|PMID:34918187|PMID:34926941
1309614	Dtymk	deoxythymidylate kinase	gene	DOID:9001586	Experimental Liver Neoplasms		IEP		D	RGD:5133686|PMID:6244089	20110622	RGD		protein:increased activity:tumor (rat)	
1309615	Upk3b	uroplakin 3B	gene	DOID:0080600	COVID-19		ISO	RGD:1320049	D	RGD:9068941	20200702	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309615	Upk3b	uroplakin 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1320049	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309615	Upk3b	uroplakin 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309615	Upk3b	uroplakin 3B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309615	Upk3b	uroplakin 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309616	Wdr76	WD repeat domain 76	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309616	Wdr76	WD repeat domain 76	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309616	Wdr76	WD repeat domain 76	gene	DOID:1909	melanoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309616	Wdr76	WD repeat domain 76	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309616	Wdr76	WD repeat domain 76	gene	DOID:3275	thymoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309616	Wdr76	WD repeat domain 76	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309616	Wdr76	WD repeat domain 76	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605336	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1309616	Wdr76	WD repeat domain 76	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309616	Wdr76	WD repeat domain 76	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309616	Wdr76	WD repeat domain 76	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:0090115	spinocerebellar ataxia with axonal neuropathy 1		ISO	RGD:1320052	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:0090115	spinocerebellar ataxia with axonal neuropathy 1		ISO	RGD:1320052	D	RGD:7240710	20130221	OMIM			
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:0090115	spinocerebellar ataxia with axonal neuropathy 1		ISO	RGD:1320052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | ClinVar Annotator: match by term: TDP1-related condition	PMID:12244316|PMID:12470949|PMID:15111055|PMID:15920477|PMID:16141202|PMID:17948061|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31182267
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:0090115	spinocerebellar ataxia with axonal neuropathy 1		ISS	RGD:1617429	D	RGD:13592920	20230718	MouseDO		OMIM:607250	
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:1115	sarcoma		ISO	RGD:1320052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28492532
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:1324	lung cancer		ISO	RGD:1320052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1320052	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:3275	thymoma		ISO	RGD:1320052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320052	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309618	Tdp1	tyrosyl-DNA phosphodiesterase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
1309619	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309619	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1309619	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:10534	stomach cancer		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309619	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:1324	lung cancer		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309619	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1309619	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:1909	melanoma		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309619	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320053	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309619	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309619	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309619	Atp8a1	ATPase phospholipid transporting 8A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309620	Ank1	ankyrin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309620	Ank1	ankyrin 1	gene	DOID:0080006	bone development disease		ISO	RGD:1320055	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18728347
1309620	Ank1	ankyrin 1	gene	DOID:0110916	hereditary spherocytosis type 1		ISO	RGD:1320055	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309620	Ank1	ankyrin 1	gene	DOID:0110916	hereditary spherocytosis type 1		ISO	RGD:1320055	D	RGD:7240710	20130221	OMIM			
1309620	Ank1	ankyrin 1	gene	DOID:0110916	hereditary spherocytosis type 1		ISO	RGD:1320055	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive	PMID:11102985|PMID:11527968|PMID:12899723|PMID:16199547|PMID:17576681|PMID:21099109|PMID:25741868|PMID:26830532|PMID:28492532|PMID:28694211|PMID:29228571|PMID:29572776|PMID:30317022|PMID:30486584|PMID:30777044|PMID:31016877|PMID:31122244|PMID:31980736|PMID:32436265|PMID:33116287|PMID:33868383|PMID:34201899|PMID:35817016|PMID:36598564|PMID:36816036|PMID:36928866|PMID:37040722|PMID:37246216|PMID:37280519|PMID:37996759|PMID:38655052|PMID:39378964|PMID:40457051|PMID:8640229|PMID:9470011|PMID:9536098|PMID:9887280
1309620	Ank1	ankyrin 1	gene	DOID:0110916	hereditary spherocytosis type 1		ISS	RGD:1320056	D	RGD:13592920	20230718	MouseDO		OMIM:182900	
1309620	Ank1	ankyrin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309620	Ank1	ankyrin 1	gene	DOID:10907	microcephaly		ISO	RGD:1320055	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1309620	Ank1	ankyrin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309620	Ank1	ankyrin 1	gene	DOID:1115	sarcoma		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309620	Ank1	ankyrin 1	gene	DOID:12365	malaria		ISS	RGD:1320056	D	RGD:13592920	20180518	MouseDO		OMIM:609148 | OMIM:611162	
1309620	Ank1	ankyrin 1	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1320055	D	RGD:11251680|PMID:9054656	20160616	RGD		DNA:deletion:cds:	
1309620	Ank1	ankyrin 1	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1320055	D	RGD:1578350|PMID:8640229	19990101	RGD			
1309620	Ank1	ankyrin 1	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: hereditary spherocytosis | ClinVar Annotator: match by term: spherocytosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:37040722|PMID:9536098
1309620	Ank1	ankyrin 1	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1320056	D	RGD:11041609|PMID:23390527	20160616	RGD		DNA:mutation:  :	
1309620	Ank1	ankyrin 1	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1320056	D	RGD:11251674|PMID:21193012	20160616	RGD		DNA:mutation:exon:p.E924X(mouse)	
1309620	Ank1	ankyrin 1	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1320056	D	RGD:11251675|PMID:23934996	20160616	RGD		DNA:transition mutation:intron:	
1309620	Ank1	ankyrin 1	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1320056	D	RGD:11251676|PMID:19179303	20160616	RGD		DNA:transversion mutation:splice site:1674G>C(mouse)	
1309620	Ank1	ankyrin 1	gene	DOID:12971	hereditary spherocytosis	severity	ISO	RGD:1320056	D	RGD:11251681|PMID:14671619	20160616	RGD		DNA:deletion mutation:exon:	
1309620	Ank1	ankyrin 1	gene	DOID:1324	lung cancer		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309620	Ank1	ankyrin 1	gene	DOID:1909	melanoma		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309620	Ank1	ankyrin 1	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:1599109|PMID:9202331	20070117	RGD			
1309620	Ank1	ankyrin 1	gene	DOID:2355	anemia		ISO	RGD:1320055	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1309620	Ank1	ankyrin 1	gene	DOID:2355	anemia	severity	ISO	RGD:1320055	D	RGD:11251706|PMID:11372755	20160617	RGD		associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns:	
1309620	Ank1	ankyrin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309620	Ank1	ankyrin 1	gene	DOID:630	genetic disease		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309620	Ank1	ankyrin 1	gene	DOID:9000582	Reticulocytosis	severity	ISO	RGD:1320055	D	RGD:11251706|PMID:11372755	20160617	RGD		associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns:	
1309620	Ank1	ankyrin 1	gene	DOID:9000972	Fever		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868
1309620	Ank1	ankyrin 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868|PMID:28492532|PMID:8640229
1309620	Ank1	ankyrin 1	gene	DOID:9005099	Salmonella Infections, Animal		ISO	RGD:1320056	D	RGD:11041609|PMID:23390527	20160616	RGD			
1309620	Ank1	ankyrin 1	gene	DOID:9007838	Myocardial Reperfusion Injury		IDA		D	RGD:1599110|PMID:9378703	20070117	RGD			
1309621	Resf1	retroelement silencing factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309621	Resf1	retroelement silencing factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309621	Resf1	retroelement silencing factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309621	Resf1	retroelement silencing factor 1	gene	DOID:1909	melanoma		ISO	RGD:1605655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309621	Resf1	retroelement silencing factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605655	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309621	Resf1	retroelement silencing factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309621	Resf1	retroelement silencing factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309621	Resf1	retroelement silencing factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309621	Resf1	retroelement silencing factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309622	Nt5m	5',3'-nucleotidase, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309622	Nt5m	5',3'-nucleotidase, mitochondrial	gene	DOID:3275	thymoma		ISO	RGD:1320058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309622	Nt5m	5',3'-nucleotidase, mitochondrial	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309622	Nt5m	5',3'-nucleotidase, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309622	Nt5m	5',3'-nucleotidase, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309622	Nt5m	5',3'-nucleotidase, mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309623	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309623	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309623	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:1115	sarcoma		ISO	RGD:1347297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309623	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:3070	high grade glioma		ISO	RGD:1347297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309623	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:3275	thymoma		ISO	RGD:1347297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309623	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:4362	cervical cancer		ISO	RGD:1347297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309623	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1347297	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309623	Galnt18	polypeptide N-acetylgalactosaminyltransferase 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309624	Eapp	E2F-associated phosphoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1320061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309624	Eapp	E2F-associated phosphoprotein	gene	DOID:1115	sarcoma		ISO	RGD:1320061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309624	Eapp	E2F-associated phosphoprotein	gene	DOID:1324	lung cancer		ISO	RGD:1320061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309624	Eapp	E2F-associated phosphoprotein	gene	DOID:1909	melanoma		ISO	RGD:1320061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309624	Eapp	E2F-associated phosphoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309624	Eapp	E2F-associated phosphoprotein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309624	Eapp	E2F-associated phosphoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309624	Eapp	E2F-associated phosphoprotein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:10907	microcephaly		ISO	RGD:1320063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:1115	sarcoma		ISO	RGD:1320063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:1459	hypothyroidism		ISO	RGD:1320063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:1909	melanoma		ISO	RGD:1320063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1320063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1320063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:9000918	Disease Progression		ISO	RGD:1320063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25333262
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1320063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25333262
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1320063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25333262
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1320063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25333262
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1309625	Cdkl2	cyclin dependent kinase like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309626	Pcbp2	poly(rC) binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309626	Pcbp2	poly(rC) binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309626	Pcbp2	poly(rC) binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309626	Pcbp2	poly(rC) binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309626	Pcbp2	poly(rC) binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309626	Pcbp2	poly(rC) binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320065	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309626	Pcbp2	poly(rC) binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309626	Pcbp2	poly(rC) binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309626	Pcbp2	poly(rC) binding protein 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309626	Pcbp2	poly(rC) binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309626	Pcbp2	poly(rC) binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309626	Pcbp2	poly(rC) binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309627	Taf1d	TATA-box binding protein associated factor, RNA polymerase I subunit D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309627	Taf1d	TATA-box binding protein associated factor, RNA polymerase I subunit D	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309627	Taf1d	TATA-box binding protein associated factor, RNA polymerase I subunit D	gene	DOID:37	skin disease		ISO	RGD:1601854	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1309627	Taf1d	TATA-box binding protein associated factor, RNA polymerase I subunit D	gene	DOID:5041	esophageal cancer		ISO	RGD:1601854	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309627	Taf1d	TATA-box binding protein associated factor, RNA polymerase I subunit D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309627	Taf1d	TATA-box binding protein associated factor, RNA polymerase I subunit D	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1601854	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1309627	Taf1d	TATA-box binding protein associated factor, RNA polymerase I subunit D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1320068	D	RGD:11554173	20221101	CTD		CTD Direct Evidence: marker/mechanism	PMID:21685914|PMID:24719335
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:0050770	polycystic liver disease		ISS	RGD:1320069	D	RGD:13592920	20230718	MouseDO		OMIM:174050	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:0060980	polycystic liver disease 1		ISO	RGD:1320068	D	RGD:14402048|PMID:15057895	20190528	RGD		DNA:splice site mutations, deletions:multiple	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:0060980	polycystic liver disease 1		ISO	RGD:1320068	D	RGD:7240710	20130221	OMIM			
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:0060980	polycystic liver disease 1		ISO	RGD:1320068	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: PRKCSH-related condition | ClinVar Annotator: match by term: Polycystic liver disease 1 | ClinVar Annotator: match by term: Polycystic liver disease 1 with or without kidney cysts	PMID:12529853|PMID:12577059|PMID:20095989|PMID:25741868|PMID:28492532|PMID:31328266
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1320068	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21685914
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:10534	stomach cancer		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:1324	lung cancer		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:1909	melanoma		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:2043	hepatitis B	treatment	ISO	RGD:1320069	D	RGD:14402034|PMID:24769044	20190523	RGD			
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:409	liver disease		ISO	RGD:1320068	D	RGD:1599188|PMID:12529853	20070118	RGD			
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:4362	cervical cancer		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:5041	esophageal cancer		ISO	RGD:1320068	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:630	genetic disease		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:784	chronic kidney disease		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: chronic kidney disease	PMID:25741868|PMID:28492532
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309628	Prkcsh	PRKCSH beta subunit of glucosidase II	gene	DOID:9256	colorectal cancer		ISO	RGD:1320068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309629	Midn	midnolin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309629	Midn	midnolin	gene	DOID:10534	stomach cancer		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309629	Midn	midnolin	gene	DOID:1115	sarcoma		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309629	Midn	midnolin	gene	DOID:1909	melanoma		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309629	Midn	midnolin	gene	DOID:2843	long QT syndrome		ISO	RGD:1320070	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
1309629	Midn	midnolin	gene	DOID:3275	thymoma		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309629	Midn	midnolin	gene	DOID:5041	esophageal cancer		ISO	RGD:1320070	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309629	Midn	midnolin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309629	Midn	midnolin	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309629	Midn	midnolin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309631	Lmbr1l	limb development membrane protein 1-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309631	Lmbr1l	limb development membrane protein 1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309631	Lmbr1l	limb development membrane protein 1-like	gene	DOID:10534	stomach cancer		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309631	Lmbr1l	limb development membrane protein 1-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309631	Lmbr1l	limb development membrane protein 1-like	gene	DOID:1115	sarcoma		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309631	Lmbr1l	limb development membrane protein 1-like	gene	DOID:3070	high grade glioma		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309631	Lmbr1l	limb development membrane protein 1-like	gene	DOID:4362	cervical cancer		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309631	Lmbr1l	limb development membrane protein 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309631	Lmbr1l	limb development membrane protein 1-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309632	Kcna7	potassium voltage-gated channel subfamily A member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309632	Kcna7	potassium voltage-gated channel subfamily A member 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309632	Kcna7	potassium voltage-gated channel subfamily A member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309633	Wdr27	WD repeat domain 27	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309633	Wdr27	WD repeat domain 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309633	Wdr27	WD repeat domain 27	gene	DOID:10534	stomach cancer		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309633	Wdr27	WD repeat domain 27	gene	DOID:1115	sarcoma		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309633	Wdr27	WD repeat domain 27	gene	DOID:1324	lung cancer		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309633	Wdr27	WD repeat domain 27	gene	DOID:2394	ovarian cancer		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309633	Wdr27	WD repeat domain 27	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309633	Wdr27	WD repeat domain 27	gene	DOID:4362	cervical cancer		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309633	Wdr27	WD repeat domain 27	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309633	Wdr27	WD repeat domain 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1351994	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309633	Wdr27	WD repeat domain 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309633	Wdr27	WD repeat domain 27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309633	Wdr27	WD repeat domain 27	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309633	Wdr27	WD repeat domain 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309633	Wdr27	WD repeat domain 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309633	Wdr27	WD repeat domain 27	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309634	Fam193a	family with sequence similarity 193, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309634	Fam193a	family with sequence similarity 193, member A	gene	DOID:10534	stomach cancer		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309634	Fam193a	family with sequence similarity 193, member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309634	Fam193a	family with sequence similarity 193, member A	gene	DOID:1115	sarcoma		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309634	Fam193a	family with sequence similarity 193, member A	gene	DOID:1324	lung cancer		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309634	Fam193a	family with sequence similarity 193, member A	gene	DOID:1909	melanoma		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309634	Fam193a	family with sequence similarity 193, member A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309634	Fam193a	family with sequence similarity 193, member A	gene	DOID:4362	cervical cancer		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309634	Fam193a	family with sequence similarity 193, member A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309634	Fam193a	family with sequence similarity 193, member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1320077	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309634	Fam193a	family with sequence similarity 193, member A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309634	Fam193a	family with sequence similarity 193, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309634	Fam193a	family with sequence similarity 193, member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1309635	Tchh	trichohyalin	gene	DOID:9003784	Uncombable Hair Syndrome 3		ISO	RGD:1320079	D	RGD:7240710	20190315	OMIM			
1309635	Tchh	trichohyalin	gene	DOID:9003784	Uncombable Hair Syndrome 3		ISO	RGD:1320079	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Uncombable hair syndrome 3	PMID:25741868
1309635	Tchh	trichohyalin	gene	DOID:9005997	Uncombable Hair Syndrome		ISO	RGD:1320079	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1309638	Guk1	guanylate kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309638	Guk1	guanylate kinase 1	gene	DOID:0051029	mitochondrial DNA depletion syndrome-21		ISO	RGD:1320084	D	RGD:7240710	20250129	OMIM			
1309638	Guk1	guanylate kinase 1	gene	DOID:0051029	mitochondrial DNA depletion syndrome-21		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 21	PMID:25741868|PMID:39230499
1309638	Guk1	guanylate kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309638	Guk1	guanylate kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309638	Guk1	guanylate kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309638	Guk1	guanylate kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320084	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309638	Guk1	guanylate kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309638	Guk1	guanylate kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309638	Guk1	guanylate kinase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309638	Guk1	guanylate kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309638	Guk1	guanylate kinase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:5147874|PMID:17465459	20110826	RGD		protein:decreased expression:retina (rat)	
1309638	Guk1	guanylate kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309638	Guk1	guanylate kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309638	Guk1	guanylate kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISS	RGD:1320089	D	RGD:13592920	20180518	MouseDO			
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:0080725	BASAN syndrome		ISO	RGD:1320088	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:0080725	BASAN syndrome		ISO	RGD:1320088	D	RGD:7240710	20190315	OMIM			
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:0080725	BASAN syndrome		ISO	RGD:1320088	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BASAN SYNDROME | ClinVar Annotator: match by term: Basan syndrome | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASE	PMID:25741868
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:0111357	adermatoglyphia		ISO	RGD:1320088	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:0111357	adermatoglyphia		ISO	RGD:1320088	D	RGD:7240710	20141015	OMIM			
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:0111357	adermatoglyphia		ISO	RGD:1320088	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADERMATOGLYPHIA | ClinVar Annotator: match by term: Adermatoglyphia | ClinVar Annotator: match by term: Isolated congenital adermatoglyphia	PMID:25741868
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:1115	sarcoma		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:1324	lung cancer		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:3275	thymoma		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320088	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:630	genetic disease		ISO	RGD:1320088	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:9001225	Sclerotylosis		ISO	RGD:1320088	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:9001225	Sclerotylosis		ISO	RGD:1320088	D	RGD:7240710	20190424	OMIM			
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:9001225	Sclerotylosis		ISO	RGD:1320088	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HURIEZ SYNDROME | ClinVar Annotator: match by term: Huriez syndrome | ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities	PMID:25741868
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320088	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320088	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental Disorder	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309640	Smarcad1	SNF2 related chromatin remodeling ATPase with DExD box 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1622294	D	RGD:9588548|PMID:18952892	20141030	RGD			
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320090	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:0060318	acute promyelocytic leukemia	severity	ISO	RGD:1320090	D	RGD:9588539|PMID:24796963	20141030	RGD		mRNA:decreased expression:peripheral blood, bone marrow, mononuclear cells (human)	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:0070070	autosomal dominant intellectual developmental disorder 40		ISO	RGD:1320090	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40	PMID:25741868|PMID:28492532
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:0070309	absence epilepsy		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:10283	prostate cancer		ISO	RGD:1320090	D	RGD:9587761|PMID:24200674	20141016	RGD		mRNA:decreased expression:prostate gland (human)	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:10534	stomach cancer		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:1059	intellectual disability		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28492532
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:10907	microcephaly		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:25741869|PMID:28492532
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:10908	hydrocephalus		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:11714	gestational diabetes		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:1240	leukemia		ISO	RGD:1320090	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18818388
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:1283	enterocele		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:12849	autistic disorder		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder	PMID:25741868|PMID:28492532
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:12849	autistic disorder		ISO	RGD:1320090	D	RGD:9588547|PMID:25284784	20141030	RGD		DNA:insertions, deletions:multiple (human)	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:1612	breast cancer		ISO	RGD:1320090	D	RGD:9588236|PMID:23754336	20141030	RGD		mRNA:decreased expression:breast (human)	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:1826	epilepsy		ISO	RGD:1320090	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:1909	melanoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:1969	cerebral palsy		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:2030	anxiety disorder		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:3275	thymoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:4362	cervical cancer		ISO	RGD:1320090	D	RGD:9588553|PMID:25172963	20141030	RGD		human gene in a mouse model	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:4667	kyphosis		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:5041	esophageal cancer		ISO	RGD:1320090	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1320090	D	RGD:9588555|PMID:16046540	20141030	RGD		protein:increased expression:peripheral blood, T cell, CD4+ (human)	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:630	genetic disease		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:31079897|PMID:33004838|PMID:35937050|PMID:36413997|PMID:9536098
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:8692	myeloid leukemia		ISO	RGD:1320090	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18854576
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:8927	learning disability		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9001510	Funnel Chest		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9001581	Constipation		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9001650	Pregnancy-Induced Hypertension		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertension, pregnancy-induced	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9001969	O'Donnell-Luria-Rodan Syndrome		ISO	RGD:1320090	D	RGD:7240710	20190918	OMIM			
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9001969	O'Donnell-Luria-Rodan Syndrome		ISO	RGD:1320090	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: KMT2E-related condition | ClinVar Annotator: match by term: O'DONNELL-LURIA-RODAN SYNDROME | ClinVar Annotator: match by term: O'Donnell-Luria-Rodan syndrome	PMID:25741868|PMID:28492532|PMID:31079897|PMID:34321323|PMID:38648332|PMID:39433808
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9002189	High Myopia		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe myopia	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9002594	High Hyperopia		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperopia, high	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9003816	Macrocephaly		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320090	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320090	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: neurodevelopmental disorder	PMID:25741868|PMID:31079897
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9004507	Hirsutism		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9005077	Joint Instability		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Speech delay	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:25741868|PMID:31079897
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9007661	Dwarfism		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9256	colorectal cancer		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309641	Kmt2e	lysine methyltransferase 2E	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1320090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:25741868
1309642	Adat2	adenosine deaminase, tRNA-specific 2	gene	DOID:1324	lung cancer		ISO	RGD:1320091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309642	Adat2	adenosine deaminase, tRNA-specific 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1320091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309642	Adat2	adenosine deaminase, tRNA-specific 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309642	Adat2	adenosine deaminase, tRNA-specific 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309643	Foxk1	forkhead box K1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309643	Foxk1	forkhead box K1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309643	Foxk1	forkhead box K1	gene	DOID:2394	ovarian cancer		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309643	Foxk1	forkhead box K1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309643	Foxk1	forkhead box K1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309643	Foxk1	forkhead box K1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309643	Foxk1	forkhead box K1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309643	Foxk1	forkhead box K1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309644	Klhl30	kelch-like family member 30	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309644	Klhl30	kelch-like family member 30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309644	Klhl30	kelch-like family member 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:19449419|PMID:23154523|PMID:23394314|PMID:25741868|PMID:28492532|PMID:35778651
1309645	Irf6	interferon regulatory factor 6	gene	DOID:0050591	tooth agenesis		ISO	RGD:1320095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: hypodontia	PMID:19282774|PMID:21468557|PMID:23949966|PMID:28492532
1309645	Irf6	interferon regulatory factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:0060055	popliteal pterygium syndrome		ISO	RGD:1320095	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:0060055	popliteal pterygium syndrome		ISO	RGD:1320095	D	RGD:7240710	20130221	OMIM			
1309645	Irf6	interferon regulatory factor 6	gene	DOID:0060055	popliteal pterygium syndrome		ISO	RGD:1320095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES | ClinVar Annotator: match by term: FACIOGENITOPOPLITEAL SYNDROME | ClinVar Annotator: match by term: POPLITEAL PTERYGIUM SYNDROME | ClinVar Annotator: match by term: Popliteal pterygium syndrome	PMID:12219090|PMID:12920575|PMID:14618417|PMID:15472655|PMID:16199547|PMID:18506368|PMID:18617879|PMID:19036739|PMID:19282774|PMID:19449419|PMID:19623037|PMID:20184620|PMID:20803643|PMID:21045959|PMID:21468557|PMID:22488974|PMID:23154523|PMID:23394314|PMID:23949966|PMID:24936515|PMID:25547932|PMID:25548624|PMID:25579819|PMID:25741868|PMID:28492532|PMID:28945736|PMID:29453417|PMID:30053123|PMID:31468312|PMID:32558391|PMID:35778651|PMID:36901693
1309645	Irf6	interferon regulatory factor 6	gene	DOID:0060055	popliteal pterygium syndrome		ISS	RGD:1551327	D	RGD:13592920	20230718	MouseDO		OMIM:119500 | OMIM:263650	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:0060239	Van der Woude syndrome		ISO	RGD:1320095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16211254|PMID:16998136|PMID:18813858
1309645	Irf6	interferon regulatory factor 6	gene	DOID:0060239	Van der Woude syndrome		ISO	RGD:1320095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP | ClinVar Annotator: match by term: Van der Woude syndrome	PMID:12219090|PMID:12920575|PMID:14618417|PMID:15472655|PMID:16160700|PMID:16199547|PMID:16998136|PMID:18506368|PMID:18617879|PMID:19036739|PMID:19282774|PMID:19449419|PMID:19623037|PMID:20184620|PMID:21045959|PMID:21468557|PMID:22488974|PMID:23154523|PMID:23394314|PMID:23949966|PMID:24936515|PMID:25547932|PMID:25548624|PMID:25579819|PMID:25741868|PMID:25784454|PMID:28361103|PMID:28492532|PMID:28945736|PMID:29115498|PMID:29453417|PMID:30053123|PMID:31468312|PMID:32558391|PMID:35778651|PMID:36901693
1309645	Irf6	interferon regulatory factor 6	gene	DOID:0060239	Van der Woude syndrome		ISS	RGD:1551327	D	RGD:13592920	20230718	MouseDO		OMIM:119300 | OMIM:606713	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:1320095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 1	PMID:25741868
1309645	Irf6	interferon regulatory factor 6	gene	DOID:0080403	orofacial cleft 10		ISO	RGD:1320095	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 10	PMID:26346622|PMID:27834299|PMID:28762674|PMID:28762675|PMID:28762676
1309645	Irf6	interferon regulatory factor 6	gene	DOID:0080593	orofacial cleft 6		ISO	RGD:1320095	D	RGD:7240710	20191127	OMIM			
1309645	Irf6	interferon regulatory factor 6	gene	DOID:0080593	orofacial cleft 6		ISO	RGD:1320095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 6 | ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to	PMID:10426188|PMID:10524230|PMID:11162841|PMID:12219090|PMID:12920575|PMID:14618417|PMID:14757865|PMID:15472655|PMID:16199547|PMID:16211254|PMID:17576681|PMID:18506368|PMID:18617879|PMID:19036739|PMID:19282774|PMID:19449419|PMID:19536562|PMID:19623037|PMID:19842205|PMID:20184620|PMID:21045959|PMID:21468557|PMID:21739575|PMID:22488974|PMID:23154523|PMID:23394314|PMID:23713753|PMID:23949966|PMID:24088119|PMID:24936515|PMID:25547932|PMID:25548624|PMID:25579819|PMID:25741868|PMID:25784454|PMID:26346622|PMID:28492532|PMID:28945736|PMID:29453417|PMID:30053123|PMID:30982524|PMID:31468312|PMID:31901040|PMID:32108996|PMID:32558391|PMID:35778651|PMID:36901693|PMID:37644014|PMID:9536098
1309645	Irf6	interferon regulatory factor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1320095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:19449419|PMID:23154523|PMID:23394314|PMID:25741868|PMID:28492532|PMID:35778651
1309645	Irf6	interferon regulatory factor 6	gene	DOID:11193	syndactyly		ISO	RGD:1320095	D	RGD:1600214|PMID:12219090	20070302	RGD		popliteal pterygium syndrome, OMIM:119500	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:11836	clubfoot		ISO	RGD:1320095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:1324	lung cancer		ISO	RGD:1320095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:630	genetic disease		ISO	RGD:1320095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12219090|PMID:16199547|PMID:18247422|PMID:19282774|PMID:19623037|PMID:21468557|PMID:23154523|PMID:23510002|PMID:25579819|PMID:25741868|PMID:28492532
1309645	Irf6	interferon regulatory factor 6	gene	DOID:674	cleft palate		ISO	RGD:1320095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17041601
1309645	Irf6	interferon regulatory factor 6	gene	DOID:674	cleft palate		ISO	RGD:1320095	D	RGD:12436724|PMID:20672350	20170518	RGD		DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:674	cleft palate		ISO	RGD:1320095	D	RGD:1600214|PMID:12219090	20070302	RGD		van der Woude syndrome, OMIM:119300	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:674	cleft palate		ISO	RGD:1320095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:12920575|PMID:14618417|PMID:18506368|PMID:25741868|PMID:28492532|PMID:28945736|PMID:36901693
1309645	Irf6	interferon regulatory factor 6	gene	DOID:9001611	Urogenital Abnormalities		ISO	RGD:1320095	D	RGD:1600214|PMID:12219090	20070302	RGD		popliteal pterygium syndrome, OMIM:119500	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:9001946	Skin Abnormalities		ISO	RGD:1320095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17041601
1309645	Irf6	interferon regulatory factor 6	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1320095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17041601
1309645	Irf6	interferon regulatory factor 6	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1320095	D	RGD:1600214|PMID:12219090	20070302	RGD		popliteal pterygium syndrome, OMIM:119500	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:19449419|PMID:23154523|PMID:23394314|PMID:25741868|PMID:28492532|PMID:35778651
1309645	Irf6	interferon regulatory factor 6	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1320095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17041601
1309645	Irf6	interferon regulatory factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:19449419|PMID:23154523|PMID:23394314|PMID:25741868|PMID:28492532|PMID:35778651
1309645	Irf6	interferon regulatory factor 6	gene	DOID:9009396	Van der Woude Syndrome 1		ISO	RGD:1320095	D	RGD:7240710	20251015	OMIM			
1309645	Irf6	interferon regulatory factor 6	gene	DOID:9009396	Van der Woude Syndrome 1		ISO	RGD:1320095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: VAN DER WOUDE SYNDROME 1 | ClinVar Annotator: match by term: Van der Woude syndrome 1 | ClinVar Annotator: match by term: van der Woude syndrome 1	PMID:12219090|PMID:12920575|PMID:14618417|PMID:15472655|PMID:16160700|PMID:16211254|PMID:18506368|PMID:18617879|PMID:19036739|PMID:19282774|PMID:19449419|PMID:19842205|PMID:20184620|PMID:20301581|PMID:21045959|PMID:22488974|PMID:23949966|PMID:24936515|PMID:25547932|PMID:25548624|PMID:25741868|PMID:28492532|PMID:28945736|PMID:29453417|PMID:30689861|PMID:31468312|PMID:32558391|PMID:36901693
1309645	Irf6	interferon regulatory factor 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1320095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:19449419|PMID:23154523|PMID:23394314|PMID:25741868|PMID:28492532|PMID:35778651
1309645	Irf6	interferon regulatory factor 6	gene	DOID:9296	cleft lip		ISO	RGD:1320095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17041601|PMID:18836445|PMID:20436469
1309645	Irf6	interferon regulatory factor 6	gene	DOID:9296	cleft lip		ISO	RGD:1320095	D	RGD:1600214|PMID:12219090	20070302	RGD		van der Woude syndrome, OMIM:119300	
1309645	Irf6	interferon regulatory factor 6	gene	DOID:9296	cleft lip		ISS	RGD:1551327	D	RGD:13592920	20230718	MouseDO			
1309646	Aga	aspartylglucosaminidase	gene	DOID:0050461	aspartylglucosaminuria		ISO	RGD:1320096	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309646	Aga	aspartylglucosaminidase	gene	DOID:0050461	aspartylglucosaminuria		ISO	RGD:1320096	D	RGD:7240710	20130221	OMIM			
1309646	Aga	aspartylglucosaminidase	gene	DOID:0050461	aspartylglucosaminuria		ISO	RGD:1320096	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ASPARTYLGLUCOSAMINURIA | ClinVar Annotator: match by term: Aspartylglucosaminuria | ClinVar Annotator: match by term: Aspartylglycosaminuria | ClinVar Annotator: match by term: Glycosylasparaginase deficiency | ClinVar Annotator: match by term: aspartylglucosaminuria	PMID:10399108|PMID:10571008|PMID:11309371|PMID:11754099|PMID:1427775|PMID:1559710|PMID:16199547|PMID:1703489|PMID:1722323|PMID:1756604|PMID:17576681|PMID:1765378|PMID:1879549|PMID:18992224|PMID:1904874|PMID:2011603|PMID:21228398|PMID:23271757|PMID:25456816|PMID:25525159|PMID:25741868|PMID:27876883|PMID:28492532|PMID:29247835|PMID:29930972|PMID:29993127|PMID:30564628|PMID:33439067|PMID:36101820|PMID:36585008|PMID:37077564|PMID:38831911|PMID:6883788|PMID:7627186|PMID:8064811|PMID:8172656|PMID:8411707|PMID:8457202|PMID:8702913|PMID:8776587|PMID:9137882|PMID:9536098|PMID:9737998|PMID:9742145
1309646	Aga	aspartylglucosaminidase	gene	DOID:0050461	aspartylglucosaminuria		ISS	RGD:1320097	D	RGD:13592920	20230718	MouseDO		OMIM:208400	
1309646	Aga	aspartylglucosaminidase	gene	DOID:10534	stomach cancer		ISO	RGD:1320096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309646	Aga	aspartylglucosaminidase	gene	DOID:1059	intellectual disability		ISO	RGD:1320096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1309646	Aga	aspartylglucosaminidase	gene	DOID:1909	melanoma		ISO	RGD:1320096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309646	Aga	aspartylglucosaminidase	gene	DOID:3211	lysosomal storage disease	susceptibility	ISO	RGD:1320096	D	RGD:1598773|PMID:1703489	20061219	RGD			
1309646	Aga	aspartylglucosaminidase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309646	Aga	aspartylglucosaminidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309646	Aga	aspartylglucosaminidase	gene	DOID:630	genetic disease		ISO	RGD:1320096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11309371|PMID:25741868|PMID:28492532|PMID:7627186
1309646	Aga	aspartylglucosaminidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309648	Zfp142	zinc finger protein 142	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309648	Zfp142	zinc finger protein 142	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309648	Zfp142	zinc finger protein 142	gene	DOID:1059	intellectual disability		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:31036918
1309648	Zfp142	zinc finger protein 142	gene	DOID:3275	thymoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309648	Zfp142	zinc finger protein 142	gene	DOID:4362	cervical cancer		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309648	Zfp142	zinc finger protein 142	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1320100	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1309648	Zfp142	zinc finger protein 142	gene	DOID:5041	esophageal cancer		ISO	RGD:1320100	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309648	Zfp142	zinc finger protein 142	gene	DOID:543	dystonia		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:31036918
1309648	Zfp142	zinc finger protein 142	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309648	Zfp142	zinc finger protein 142	gene	DOID:630	genetic disease		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30389958|PMID:31345219|PMID:34826259|PMID:35616059|PMID:35618198
1309648	Zfp142	zinc finger protein 142	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309648	Zfp142	zinc finger protein 142	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized tonic-clonic seizures	PMID:25741868|PMID:31036918
1309648	Zfp142	zinc finger protein 142	gene	DOID:9000239	Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements		ISO	RGD:1320100	D	RGD:7240710	20190612	OMIM			
1309648	Zfp142	zinc finger protein 142	gene	DOID:9000239	Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements		ISO	RGD:1320100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS | ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired speech and hyperkinetic movements | ClinVar Annotator: match by term: ZNF142-related condition | ClinVar Annotator: match by term: neurodevelopmental disorder with impaired speech and hyperkinetic movements	PMID:25741868|PMID:27066578|PMID:30389958|PMID:31036918|PMID:31345219|PMID:34826259|PMID:35616059|PMID:35618198|PMID:38026511
1309648	Zfp142	zinc finger protein 142	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1309648	Zfp142	zinc finger protein 142	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309648	Zfp142	zinc finger protein 142	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31036918
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1320101	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:25741868|PMID:28492532|PMID:36909829
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1320101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:11301032|PMID:21447491|PMID:2392416|PMID:25356976|PMID:25429852|PMID:25741868|PMID:28492532|PMID:31872526
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0050683	Bothnia retinal dystrophy		ISO	RGD:1320101	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0050683	Bothnia retinal dystrophy		ISO	RGD:1320101	D	RGD:7240710	20130221	OMIM			
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0050683	Bothnia retinal dystrophy		ISO	RGD:1320101	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY	PMID:10102299|PMID:11301032|PMID:11453974|PMID:11868161|PMID:14718298|PMID:16199547|PMID:17065479|PMID:19339744|PMID:21151602|PMID:21447491|PMID:23105016|PMID:2392416|PMID:25307992|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:31872526|PMID:33188265|PMID:9326942
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0050683	Bothnia retinal dystrophy		ISS	RGD:1320102	D	RGD:13592920	20230718	MouseDO		OMIM:607475	
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0111015	Newfoundland cone-rod dystrophy		ISO	RGD:1320101	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0111015	Newfoundland cone-rod dystrophy		ISO	RGD:1320101	D	RGD:7240710	20130221	OMIM			
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:0111015	Newfoundland cone-rod dystrophy		ISO	RGD:1320101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: NEWFOUNDLAND ROD-CONE DYSTROPHY | ClinVar Annotator: match by term: Newfoundland cone-rod dystrophy	PMID:10102299|PMID:11301032|PMID:11453974|PMID:11868161|PMID:14718298|PMID:16199547|PMID:17065479|PMID:17576681|PMID:19339744|PMID:21151602|PMID:21447491|PMID:23105016|PMID:2392416|PMID:24265693|PMID:25307992|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:31872526|PMID:33188265|PMID:34795310|PMID:9326942|PMID:9536098
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320101	D	RGD:1599618|PMID:11176989	20070208	RGD		bothnia dystrophy, OMIM:180090	
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320101	D	RGD:8547535|PMID:23701314	20140217	RGD			
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320101	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:32188692|PMID:33188265|PMID:33851411|PMID:34410188|PMID:34795310|PMID:36247817|PMID:9326942
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320101	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:32188692|PMID:32552793|PMID:33188265|PMID:33851411|PMID:34410188|PMID:34426522|PMID:34795310|PMID:36247817|PMID:9326942
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320101	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:17576681|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:21447491|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:32188692|PMID:32552793|PMID:33188265|PMID:33851411|PMID:34410188|PMID:34426522|PMID:34795310|PMID:36247817|PMID:9326942|PMID:9536098
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10102298|PMID:10102299|PMID:11301032|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15234312|PMID:15953459|PMID:16199547|PMID:17065479|PMID:17576681|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:21151602|PMID:21447491|PMID:22171637|PMID:22183382|PMID:23105016|PMID:2392416|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:30718709|PMID:31456290|PMID:31872526|PMID:33188265|PMID:33576794|PMID:33851411|PMID:34795310|PMID:35456422|PMID:36247817|PMID:36460718|PMID:9326942|PMID:9536098
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:11105	fundus albipunctatus		ISO	RGD:1320101	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:11105	fundus albipunctatus		ISO	RGD:1320101	D	RGD:7240710	20130221	OMIM			
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:11105	fundus albipunctatus		ISO	RGD:1320101	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens	PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:15234312|PMID:15953459|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692|PMID:33188265|PMID:9326942
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:11105	fundus albipunctatus		ISO	RGD:1320101	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant	PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:14718298|PMID:15234312|PMID:15953459|PMID:17576681|PMID:18344446|PMID:19846785|PMID:20238024|PMID:21447491|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:2392416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:31456290|PMID:31872526|PMID:32188692|PMID:33188265|PMID:33851411|PMID:34795310|PMID:9326942|PMID:9536098
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:11105	fundus albipunctatus		ISO	RGD:1320101	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens	PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11453974|PMID:11868161|PMID:14718298|PMID:15234312|PMID:15953459|PMID:16199547|PMID:17065479|PMID:19339744|PMID:21151602|PMID:21447491|PMID:22171637|PMID:23105016|PMID:2392416|PMID:24265693|PMID:25307992|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:31872526|PMID:33188265|PMID:33851411|PMID:34795310|PMID:9326942
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:11453974|PMID:14718298|PMID:23105016|PMID:25307992|PMID:25741868|PMID:26355662|PMID:28492532|PMID:33188265|PMID:9326942
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:11453974|PMID:14718298|PMID:17065479|PMID:19339744|PMID:21151602|PMID:23105016|PMID:25307992|PMID:25741868|PMID:26355662|PMID:28492532|PMID:33188265|PMID:9326942
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1320101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:4448	macular degeneration		ISO	RGD:1320101	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30742112
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:5679	retinal disease		ISO	RGD:1320101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10102299|PMID:12536144|PMID:18344446|PMID:22551409|PMID:25741868|PMID:28492532|PMID:33851411
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:5723	optic atrophy		ISO	RGD:1320101	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:1320101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:8499	night blindness		ISO	RGD:1320101	D	RGD:1599620|PMID:11453974	20070208	RGD		Fundus albipunctatus, OMIM:180090	
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1320101	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10102299|PMID:11301032|PMID:17065479|PMID:21447491|PMID:22559933|PMID:2392416|PMID:23929416|PMID:24265693|PMID:24339724|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26103963|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692|PMID:32552793|PMID:33851411|PMID:34426522|PMID:34795310|PMID:36247817|PMID:36259723|PMID:36909829|PMID:37883093|PMID:38470931|PMID:38945349
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:9002525	Hereditary Eye Diseases		ISO	RGD:1320101	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16968212
1309649	Rlbp1	retinaldehyde binding protein 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:11453974|PMID:14718298|PMID:17065479|PMID:19339744|PMID:21151602|PMID:23105016|PMID:25307992|PMID:25741868|PMID:26355662|PMID:28492532|PMID:33188265|PMID:9326942
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:10534	stomach cancer		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:1115	sarcoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:11830	myopia		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:1909	melanoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:3275	thymoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:3459	breast carcinoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:480	movement disease		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1606096	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309650	Efcab5	EF-hand calcium binding domain 5	gene	DOID:9834	hyperopia		ISO	RGD:1606096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1309651	Clmb	calcimembrin	gene	DOID:4362	cervical cancer		ISO	RGD:1606366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309651	Clmb	calcimembrin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309652	Tm4sf1	transmembrane 4 L six family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1320105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309652	Tm4sf1	transmembrane 4 L six family member 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1320105	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1309652	Tm4sf1	transmembrane 4 L six family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309652	Tm4sf1	transmembrane 4 L six family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320107	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:10534	stomach cancer		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:1059	intellectual disability		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:1115	sarcoma		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:12849	autistic disorder		ISO	RGD:1320107	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:1324	lung cancer		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:1909	melanoma		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25393105|PMID:27993330|PMID:34862763
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:219	colon cancer		ISO	RGD:1320108	D	RGD:150520184|PMID:20133777	20211104	RGD			
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:219	colon cancer	exacerbates	ISO	RGD:1320108	D	RGD:150520192|PMID:27447856	20220202	RGD			
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:1320107	D	RGD:150520191|PMID:25967969	20211104	RGD		DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human)	
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:4362	cervical cancer		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:5041	esophageal cancer		ISO	RGD:1320107	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:5419	schizophrenia		ISO	RGD:1320107	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309653	Ptprt	protein tyrosine phosphatase, receptor type, T	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1320107	D	RGD:150520195|PMID:30200630	20211104	RGD		DNA:deletion:	
1309655	Cep95	centrosomal protein 95	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309655	Cep95	centrosomal protein 95	gene	DOID:0060058	lymphoma		ISO	RGD:1601939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309655	Cep95	centrosomal protein 95	gene	DOID:10534	stomach cancer		ISO	RGD:1601939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309655	Cep95	centrosomal protein 95	gene	DOID:1324	lung cancer		ISO	RGD:1601939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309655	Cep95	centrosomal protein 95	gene	DOID:1909	melanoma		ISO	RGD:1601939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309655	Cep95	centrosomal protein 95	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309655	Cep95	centrosomal protein 95	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309655	Cep95	centrosomal protein 95	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309655	Cep95	centrosomal protein 95	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309655	Cep95	centrosomal protein 95	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:0060249	scoliosis		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868|PMID:28492532
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:11830	myopia		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:1324	lung cancer		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:28492532
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:557	kidney disease		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:25741868|PMID:28492532
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:630	genetic disease		ISO	RGD:1605561	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:674	cleft palate		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:28492532
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:9000260	OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE		ISO	RGD:1605561	D	RGD:7240710	20190315	OMIM			
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:9000260	OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE		ISO	RGD:1605561	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE | ClinVar Annotator: match by term: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | ClinVar Annotator: match by term: Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type | ClinVar Annotator: match by term: TAPT1-related condition	PMID:25741868|PMID:28492532
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:9002589	Bone Fractures		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:9006635	Hyponatremia		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:25741868|PMID:28492532
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1605561	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1309656	Tapt1	transmembrane anterior posterior transformation 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309657	Ypel5	yippee-like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309657	Ypel5	yippee-like 5	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309657	Ypel5	yippee-like 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309658	Snai3	snail family transcriptional repressor 3	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1320115	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18806098
1309659	Arrdc2	arrestin domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309659	Arrdc2	arrestin domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1320117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309659	Arrdc2	arrestin domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309659	Arrdc2	arrestin domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:0060604	ankyloglossia		ISO	RGD:1603558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	PMID:36669111
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:0080918	polymicrogyria		ISO	RGD:1603558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:10534	stomach cancer		ISO	RGD:1603558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:1115	sarcoma		ISO	RGD:1603558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:12215	oligohydramnios		ISO	RGD:1603558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:36669111
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:1324	lung cancer		ISO	RGD:1603558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:9003132	Sialorrhea		ISO	RGD:1603558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:36669111
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1603558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:36669111
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:36669111
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309660	Tmem161b	transmembrane protein 161B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309661	Klhl5	kelch-like family member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309661	Klhl5	kelch-like family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309661	Klhl5	kelch-like family member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309661	Klhl5	kelch-like family member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309661	Klhl5	kelch-like family member 5	gene	DOID:1115	sarcoma		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309661	Klhl5	kelch-like family member 5	gene	DOID:1324	lung cancer		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309661	Klhl5	kelch-like family member 5	gene	DOID:3070	high grade glioma		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309661	Klhl5	kelch-like family member 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309661	Klhl5	kelch-like family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309661	Klhl5	kelch-like family member 5	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1320120	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1309661	Klhl5	kelch-like family member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309661	Klhl5	kelch-like family member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309661	Klhl5	kelch-like family member 5	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:1320120	D	RGD:401851917|PMID:18438686	20231031	RGD		DNA:SNP:: (rs1046655) (human)	
1309663	Pdcl3	phosducin-like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1320124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309663	Pdcl3	phosducin-like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320124	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309663	Pdcl3	phosducin-like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309663	Pdcl3	phosducin-like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309663	Pdcl3	phosducin-like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309664	Atg4b	autophagy related 4B, cysteine peptidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309664	Atg4b	autophagy related 4B, cysteine peptidase	gene	DOID:10534	stomach cancer		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309664	Atg4b	autophagy related 4B, cysteine peptidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309664	Atg4b	autophagy related 4B, cysteine peptidase	gene	DOID:1909	melanoma		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309664	Atg4b	autophagy related 4B, cysteine peptidase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309664	Atg4b	autophagy related 4B, cysteine peptidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1320126	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309664	Atg4b	autophagy related 4B, cysteine peptidase	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1309664	Atg4b	autophagy related 4B, cysteine peptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309664	Atg4b	autophagy related 4B, cysteine peptidase	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1309664	Atg4b	autophagy related 4B, cysteine peptidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309666	Crtc3	CREB regulated transcription coactivator 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309666	Crtc3	CREB regulated transcription coactivator 3	gene	DOID:10283	prostate cancer		ISO	RGD:1604314	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309666	Crtc3	CREB regulated transcription coactivator 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604314	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309666	Crtc3	CREB regulated transcription coactivator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309666	Crtc3	CREB regulated transcription coactivator 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309666	Crtc3	CREB regulated transcription coactivator 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:1059	intellectual disability		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:1793	pancreatic cancer		ISO	RGD:1320131	D	RGD:155804299|PMID:28351319	20230116	RGD		mRNA, protein:decreased expression:pancreas (human)	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320131	D	RGD:155882439|PMID:35853859	20230117	RGD		human cells in mouse model	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:4362	cervical cancer	severity	ISO	RGD:1320131	D	RGD:155882439|PMID:35853859	20230117	RGD		mRNA, protein:increased expression:cervix (human)	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:5768	Nager acrofacial dysostosis		ISO	RGD:1320131	D	RGD:11062353|PMID:22541558	20230116	RGD		DNA:mutations, haploinsufficiency:exon:multiple (human)	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:5768	Nager acrofacial dysostosis		ISO	RGD:1320131	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:5768	Nager acrofacial dysostosis		ISO	RGD:1320131	D	RGD:155804295|PMID:23568615	20230116	RGD		DNA:mutations:exon:multiple (human)	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:5768	Nager acrofacial dysostosis		ISO	RGD:1320131	D	RGD:7240710	20130731	OMIM			
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:5768	Nager acrofacial dysostosis		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE | ClinVar Annotator: match by term: Acrofacial dysostosis 1, Nager type | ClinVar Annotator: match by term: Nager syndrome | ClinVar Annotator: match by term: SF3B4-related acrofacial dysostosis | ClinVar Annotator: match by term: SF3B4-related condition	PMID:16199547|PMID:22541558|PMID:23568615|PMID:24003905|PMID:25741868|PMID:28492532
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:630	genetic disease		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:674	cleft palate		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:684	hepatocellular carcinoma		IEP		D	RGD:155791679|PMID:29059470	20230105	RGD		mRNA, protein:increased expression:liver (rat)	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320131	D	RGD:155791679|PMID:29059470	20230105	RGD		mRNA, protein:increased expression:liver (human)	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320131	D	RGD:155804298|PMID:30391496	20230116	RGD		human cells in mouse model	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1320131	D	RGD:155804298|PMID:30391496	20230116	RGD		mRNA, protein:increased expression:liver(human)	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1320132	D	RGD:155791679|PMID:29059470	20230105	RGD			
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:9001031	Retrognathia		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:22541558|PMID:23568615|PMID:25741868
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1320131	D	RGD:8554872	20171212	ClinVar		ClinVar Annotator: match by term: Hearing loss	PMID:25741868
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:9005616	Micrognathism		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:22541558|PMID:23568615|PMID:24003905|PMID:26228803
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1309667	Sf3b4	splicing factor 3B subunit 4	gene	DOID:9009121	lung metastasis		ISO	RGD:1320131	D	RGD:155804298|PMID:30391496	20230116	RGD		human cells in mouse model	
1309668	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309668	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309668	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309668	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309668	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309668	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309668	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1309668	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309668	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309668	Dcun1d1	defective in cullin neddylation 1 domain containing 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1602219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1309669	Acot6	acyl-CoA thioesterase 6	gene	DOID:5419	schizophrenia		ISO	RGD:1605747	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1309670	Zfp236	zinc finger protein 236	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1309670	Zfp236	zinc finger protein 236	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309670	Zfp236	zinc finger protein 236	gene	DOID:10534	stomach cancer		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309670	Zfp236	zinc finger protein 236	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309670	Zfp236	zinc finger protein 236	gene	DOID:1115	sarcoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309670	Zfp236	zinc finger protein 236	gene	DOID:1324	lung cancer		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309670	Zfp236	zinc finger protein 236	gene	DOID:1432	blindness		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:25741868
1309670	Zfp236	zinc finger protein 236	gene	DOID:1909	melanoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309670	Zfp236	zinc finger protein 236	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309670	Zfp236	zinc finger protein 236	gene	DOID:3070	high grade glioma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309670	Zfp236	zinc finger protein 236	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309670	Zfp236	zinc finger protein 236	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309670	Zfp236	zinc finger protein 236	gene	DOID:5041	esophageal cancer		ISO	RGD:1320136	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309670	Zfp236	zinc finger protein 236	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309670	Zfp236	zinc finger protein 236	gene	DOID:5723	optic atrophy		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1309670	Zfp236	zinc finger protein 236	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309670	Zfp236	zinc finger protein 236	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1309670	Zfp236	zinc finger protein 236	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309670	Zfp236	zinc finger protein 236	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309670	Zfp236	zinc finger protein 236	gene	DOID:9256	colorectal cancer		ISO	RGD:1320136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309672	Man1c1	mannosidase, alpha, class 1C, member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309672	Man1c1	mannosidase, alpha, class 1C, member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309672	Man1c1	mannosidase, alpha, class 1C, member 1	gene	DOID:1115	sarcoma		ISO	RGD:1320140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309672	Man1c1	mannosidase, alpha, class 1C, member 1	gene	DOID:1324	lung cancer		ISO	RGD:1320140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309672	Man1c1	mannosidase, alpha, class 1C, member 1	gene	DOID:1909	melanoma		ISO	RGD:1320140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309672	Man1c1	mannosidase, alpha, class 1C, member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309672	Man1c1	mannosidase, alpha, class 1C, member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309673	P4ha2	prolyl 4-hydroxylase subunit alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309673	P4ha2	prolyl 4-hydroxylase subunit alpha 2	gene	DOID:1115	sarcoma		ISO	RGD:1320142	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309673	P4ha2	prolyl 4-hydroxylase subunit alpha 2	gene	DOID:1909	melanoma		ISO	RGD:1320142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309673	P4ha2	prolyl 4-hydroxylase subunit alpha 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309673	P4ha2	prolyl 4-hydroxylase subunit alpha 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320142	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309673	P4ha2	prolyl 4-hydroxylase subunit alpha 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309673	P4ha2	prolyl 4-hydroxylase subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309673	P4ha2	prolyl 4-hydroxylase subunit alpha 2	gene	DOID:9000065	Myopia 25, Autosomal Dominant		ISO	RGD:1320142	D	RGD:7240710	20190315	OMIM			
1309673	P4ha2	prolyl 4-hydroxylase subunit alpha 2	gene	DOID:9000065	Myopia 25, Autosomal Dominant		ISO	RGD:1320142	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: MYOPIA 25, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myopia 25, autosomal dominant | ClinVar Annotator: match by term: P4HA2-related condition	PMID:25741866|PMID:25741868|PMID:28492532
1309673	P4ha2	prolyl 4-hydroxylase subunit alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309674	Sox13	SRY-box transcription factor 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309674	Sox13	SRY-box transcription factor 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309674	Sox13	SRY-box transcription factor 13	gene	DOID:0080600	COVID-19		ISO	RGD:1320144	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309674	Sox13	SRY-box transcription factor 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309674	Sox13	SRY-box transcription factor 13	gene	DOID:1324	lung cancer		ISO	RGD:1320144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309674	Sox13	SRY-box transcription factor 13	gene	DOID:1909	melanoma		ISO	RGD:1320144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309674	Sox13	SRY-box transcription factor 13	gene	DOID:2394	ovarian cancer		ISO	RGD:1320144	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309674	Sox13	SRY-box transcription factor 13	gene	DOID:3275	thymoma		ISO	RGD:1320144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309674	Sox13	SRY-box transcription factor 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1320144	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309674	Sox13	SRY-box transcription factor 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309674	Sox13	SRY-box transcription factor 13	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309674	Sox13	SRY-box transcription factor 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309674	Sox13	SRY-box transcription factor 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309674	Sox13	SRY-box transcription factor 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309675	Slc16a14	solute carrier family 16, member 14	gene	DOID:1909	melanoma		ISO	RGD:1320146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309675	Slc16a14	solute carrier family 16, member 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309675	Slc16a14	solute carrier family 16, member 14	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309675	Slc16a14	solute carrier family 16, member 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309675	Slc16a14	solute carrier family 16, member 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309676	Prxl2a	peroxiredoxin like 2A	gene	DOID:1115	sarcoma		ISO	RGD:1320148	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309676	Prxl2a	peroxiredoxin like 2A	gene	DOID:1909	melanoma		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309676	Prxl2a	peroxiredoxin like 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309676	Prxl2a	peroxiredoxin like 2A	gene	DOID:3070	high grade glioma		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309676	Prxl2a	peroxiredoxin like 2A	gene	DOID:3275	thymoma		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309676	Prxl2a	peroxiredoxin like 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309676	Prxl2a	peroxiredoxin like 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309676	Prxl2a	peroxiredoxin like 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309676	Prxl2a	peroxiredoxin like 2A	gene	DOID:9256	colorectal cancer		ISO	RGD:1320148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309677	Cd83	CD83 molecule	gene	DOID:0060058	lymphoma		ISO	RGD:1320150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309677	Cd83	CD83 molecule	gene	DOID:10534	stomach cancer		ISO	RGD:1320150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309677	Cd83	CD83 molecule	gene	DOID:1115	sarcoma		ISO	RGD:1320150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309677	Cd83	CD83 molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309677	Cd83	CD83 molecule	gene	DOID:37	skin disease		ISO	RGD:1320150	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1309677	Cd83	CD83 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1320150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309677	Cd83	CD83 molecule	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309677	Cd83	CD83 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309677	Cd83	CD83 molecule	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1320150	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1309677	Cd83	CD83 molecule	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1320150	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446963
1309677	Cd83	CD83 molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320150	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309677	Cd83	CD83 molecule	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1320150	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1309677	Cd83	CD83 molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309677	Cd83	CD83 molecule	gene	DOID:9256	colorectal cancer		ISO	RGD:1320150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309678	Colec11	collectin sub-family member 11	gene	DOID:0060225	3MC syndrome		ISO	RGD:1320152	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: 3MC syndrome	PMID:25741868
1309678	Colec11	collectin sub-family member 11	gene	DOID:0060575	3MC syndrome 1		ISO	RGD:1320152	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258343
1309678	Colec11	collectin sub-family member 11	gene	DOID:0060576	3MC syndrome 2		ISO	RGD:1320152	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258343
1309678	Colec11	collectin sub-family member 11	gene	DOID:0060576	3MC syndrome 2		ISO	RGD:1320152	D	RGD:7240710	20141015	OMIM			
1309678	Colec11	collectin sub-family member 11	gene	DOID:0060576	3MC syndrome 2		ISO	RGD:1320152	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 3MC SYNDROME 2 | ClinVar Annotator: match by term: 3MC syndrome 2 | ClinVar Annotator: match by term: COLEC11-related condition | ClinVar Annotator: match by term: Carnevale syndrome	PMID:21258343|PMID:25741868|PMID:28301481|PMID:28492532
1309678	Colec11	collectin sub-family member 11	gene	DOID:0060577	3MC syndrome 3		ISO	RGD:1320152	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258343
1309678	Colec11	collectin sub-family member 11	gene	DOID:10123	pigmentation disease		ISO	RGD:1320152	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258343
1309678	Colec11	collectin sub-family member 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320152	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309678	Colec11	collectin sub-family member 11	gene	DOID:1324	lung cancer		ISO	RGD:1320152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309678	Colec11	collectin sub-family member 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309678	Colec11	collectin sub-family member 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309678	Colec11	collectin sub-family member 11	gene	DOID:630	genetic disease		ISO	RGD:1320152	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309678	Colec11	collectin sub-family member 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309678	Colec11	collectin sub-family member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309678	Colec11	collectin sub-family member 11	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320152	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258343
1309678	Colec11	collectin sub-family member 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309678	Colec11	collectin sub-family member 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309679	Thap12	THAP domain containing 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309679	Thap12	THAP domain containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309679	Thap12	THAP domain containing 12	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309679	Thap12	THAP domain containing 12	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309679	Thap12	THAP domain containing 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:1115	sarcoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:1909	melanoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:3275	thymoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601745	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1601745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1601745	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309680	Slc44a2	solute carrier family 44 member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1601745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:0060058	lymphoma		ISO	RGD:1320157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1320157	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17264841
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:1909	melanoma		ISO	RGD:1320157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:3275	thymoma		ISO	RGD:1320157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320157	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:809	cocaine abuse		ISO	RGD:1320158	D	RGD:405866347	20240627	RGD		mRNA:decreased expression:hippocampal formation,caudate-putamen (mouse)	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320157	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:9004980	Chronobiology Disorders		ISO	RGD:1320157	D	RGD:11554173	20200114	CTD		CTD Direct Evidence: marker/mechanism	PMID:31284022
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309681	Npas2	neuronal PAS domain protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309682	Tmem209	transmembrane protein 209	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309682	Tmem209	transmembrane protein 209	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309682	Tmem209	transmembrane protein 209	gene	DOID:1324	lung cancer		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309682	Tmem209	transmembrane protein 209	gene	DOID:1909	melanoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309682	Tmem209	transmembrane protein 209	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309682	Tmem209	transmembrane protein 209	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309682	Tmem209	transmembrane protein 209	gene	DOID:5041	esophageal cancer		ISO	RGD:1605919	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309682	Tmem209	transmembrane protein 209	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309682	Tmem209	transmembrane protein 209	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309682	Tmem209	transmembrane protein 209	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309682	Tmem209	transmembrane protein 209	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309682	Tmem209	transmembrane protein 209	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309683	Ppme1	protein phosphatase methylesterase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309683	Ppme1	protein phosphatase methylesterase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309683	Ppme1	protein phosphatase methylesterase 1	gene	DOID:1115	sarcoma		ISO	RGD:1605082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309683	Ppme1	protein phosphatase methylesterase 1	gene	DOID:1324	lung cancer		ISO	RGD:1605082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309683	Ppme1	protein phosphatase methylesterase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309683	Ppme1	protein phosphatase methylesterase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309683	Ppme1	protein phosphatase methylesterase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605082	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309683	Ppme1	protein phosphatase methylesterase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309683	Ppme1	protein phosphatase methylesterase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309683	Ppme1	protein phosphatase methylesterase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309683	Ppme1	protein phosphatase methylesterase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309685	Mif4gd	MIF4G domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309685	Mif4gd	MIF4G domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309685	Mif4gd	MIF4G domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309685	Mif4gd	MIF4G domain containing	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1309685	Mif4gd	MIF4G domain containing	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1309685	Mif4gd	MIF4G domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309686	Tbc1d17	TBC1 domain family, member 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309686	Tbc1d17	TBC1 domain family, member 17	gene	DOID:1324	lung cancer		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309686	Tbc1d17	TBC1 domain family, member 17	gene	DOID:1909	melanoma		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309686	Tbc1d17	TBC1 domain family, member 17	gene	DOID:3275	thymoma		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309686	Tbc1d17	TBC1 domain family, member 17	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309686	Tbc1d17	TBC1 domain family, member 17	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309686	Tbc1d17	TBC1 domain family, member 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309686	Tbc1d17	TBC1 domain family, member 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309686	Tbc1d17	TBC1 domain family, member 17	gene	DOID:6039	uveal melanoma		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309686	Tbc1d17	TBC1 domain family, member 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309687	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309687	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309687	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309687	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309687	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309687	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309687	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309687	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309687	Cpsf2	cleavage and polyadenylation specific factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:10283	prostate cancer		ISO	RGD:1320168	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:10283	prostate cancer		ISO	RGD:1320168	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:1115	sarcoma		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:11162	respiratory failure		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:12642	hiatus hernia		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:25741868
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:1324	lung cancer		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:1826	epilepsy		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:552	pneumonia		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:9002532	Neonatal Hyperbilirubinemia		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hyperbilirubinemia	PMID:25741868
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309688	Pprc1	PPARG related coactivator 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1320168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1309689	Polr1c	RNA polymerase I and III subunit C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309689	Polr1c	RNA polymerase I and III subunit C	gene	DOID:0060792	hypomyelinating leukodystrophy 11		ISO	RGD:1320170	D	RGD:7240710	20170503	OMIM			
1309689	Polr1c	RNA polymerase I and III subunit C	gene	DOID:0060792	hypomyelinating leukodystrophy 11		ISO	RGD:1320170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11 | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 11 | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 11 | ClinVar Annotator: match by term: POLR1C-related condition	PMID:21131976|PMID:22563501|PMID:25741868|PMID:26151409|PMID:26467025|PMID:28327206|PMID:28492532|PMID:29567474|PMID:30311386|PMID:30505682|PMID:30957429|PMID:31216405|PMID:31368241|PMID:32042905|PMID:33134290|PMID:33176815|PMID:33597727|PMID:33804237|PMID:33888711|PMID:35012964|PMID:37197783|PMID:37267771|PMID:610060
1309689	Polr1c	RNA polymerase I and III subunit C	gene	DOID:0080791	Treacher Collins syndrome 3		ISO	RGD:1320170	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309689	Polr1c	RNA polymerase I and III subunit C	gene	DOID:0080791	Treacher Collins syndrome 3		ISO	RGD:1320170	D	RGD:7240710	20130221	OMIM			
1309689	Polr1c	RNA polymerase I and III subunit C	gene	DOID:0080791	Treacher Collins syndrome 3		ISO	RGD:1320170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: POLR1C-Related Disorders | ClinVar Annotator: match by term: TREACHER COLLINS SYNDROME 3 | ClinVar Annotator: match by term: Treacher Collins syndrome 3	PMID:21131976|PMID:25741868|PMID:26151409|PMID:26467025|PMID:28492532|PMID:29567474|PMID:29644095|PMID:30311386|PMID:30957429|PMID:31019026|PMID:32042905|PMID:33597727|PMID:33804237|PMID:33888711|PMID:34645491|PMID:35012964|PMID:610060
1309689	Polr1c	RNA polymerase I and III subunit C	gene	DOID:10534	stomach cancer		ISO	RGD:1320170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309689	Polr1c	RNA polymerase I and III subunit C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309689	Polr1c	RNA polymerase I and III subunit C	gene	DOID:630	genetic disease		ISO	RGD:1320170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:21131976|PMID:25741868|PMID:26151409|PMID:28492532|PMID:29567474|PMID:30311386|PMID:30957429|PMID:32042905|PMID:33804237|PMID:35012964|PMID:610060|PMID:9536098
1309689	Polr1c	RNA polymerase I and III subunit C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309689	Polr1c	RNA polymerase I and III subunit C	gene	DOID:9000495	Tremor		ISO	RGD:1320170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:28492532
1309689	Polr1c	RNA polymerase I and III subunit C	gene	DOID:9004538	Hearing Loss		ISO	RGD:1320170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:25741868|PMID:26151409|PMID:28492532|PMID:30311386|PMID:32042905|PMID:33804237|PMID:35012964|PMID:610060
1309689	Polr1c	RNA polymerase I and III subunit C	gene	DOID:9008003	Mandibulofacial Dysostosis		ISO	RGD:1320170	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21131976
1309689	Polr1c	RNA polymerase I and III subunit C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309690	Hoxd4	homeo box D4	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1320172	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:15776434
1309691	Higd2a	HIG1 hypoxia inducible domain family, member 2A	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1603886	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1309691	Higd2a	HIG1 hypoxia inducible domain family, member 2A	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1603886	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1309696	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309696	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309696	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:1324	lung cancer		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309696	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:1909	melanoma		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309696	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309696	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309696	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309696	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309696	Ahnak2	AHNAK nucleoprotein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309697	Mrps30	mitochondrial ribosomal protein S30	gene	DOID:1115	sarcoma		ISO	RGD:1320179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309697	Mrps30	mitochondrial ribosomal protein S30	gene	DOID:1324	lung cancer		ISO	RGD:1320179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309697	Mrps30	mitochondrial ribosomal protein S30	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309697	Mrps30	mitochondrial ribosomal protein S30	gene	DOID:5041	esophageal cancer		ISO	RGD:1320179	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309697	Mrps30	mitochondrial ribosomal protein S30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309697	Mrps30	mitochondrial ribosomal protein S30	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309697	Mrps30	mitochondrial ribosomal protein S30	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309698	Gatc	glutamyl-tRNA amidotransferase subunit C	gene	DOID:0112118	combined oxidative phosphorylation deficiency 42		ISO	RGD:1606925	D	RGD:7240710	20200520	OMIM			
1309698	Gatc	glutamyl-tRNA amidotransferase subunit C	gene	DOID:0112118	combined oxidative phosphorylation deficiency 42		ISO	RGD:1606925	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 42 | ClinVar Annotator: match by term: combined oxidative phosphorylation deficiency 42	PMID:25741868|PMID:30283131
1309698	Gatc	glutamyl-tRNA amidotransferase subunit C	gene	DOID:3070	high grade glioma		ISO	RGD:1606925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309698	Gatc	glutamyl-tRNA amidotransferase subunit C	gene	DOID:4362	cervical cancer		ISO	RGD:1606925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309698	Gatc	glutamyl-tRNA amidotransferase subunit C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309698	Gatc	glutamyl-tRNA amidotransferase subunit C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309699	Rhbdf2	rhomboid 5 homolog 2	gene	DOID:0111506	palmoplantar keratoderma-esophageal carcinoma syndrome		ISO	RGD:1320182	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309699	Rhbdf2	rhomboid 5 homolog 2	gene	DOID:0111506	palmoplantar keratoderma-esophageal carcinoma syndrome		ISO	RGD:1320182	D	RGD:7240710	20130731	OMIM			
1309699	Rhbdf2	rhomboid 5 homolog 2	gene	DOID:0111506	palmoplantar keratoderma-esophageal carcinoma syndrome		ISO	RGD:1320182	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome | ClinVar Annotator: match by term: RHBDF2-related condition | ClinVar Annotator: match by term: TYLOSIS WITH ESOPHAGEAL CANCER	PMID:22265016|PMID:25741868|PMID:28492532|PMID:28655741|PMID:30197081
1309699	Rhbdf2	rhomboid 5 homolog 2	gene	DOID:0111506	palmoplantar keratoderma-esophageal carcinoma syndrome		ISS	RGD:1320183	D	RGD:13592920	20230718	MouseDO		OMIM:148500	
1309699	Rhbdf2	rhomboid 5 homolog 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309699	Rhbdf2	rhomboid 5 homolog 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309699	Rhbdf2	rhomboid 5 homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309699	Rhbdf2	rhomboid 5 homolog 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309699	Rhbdf2	rhomboid 5 homolog 2	gene	DOID:630	genetic disease		ISO	RGD:1320182	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309699	Rhbdf2	rhomboid 5 homolog 2	gene	DOID:687	hepatoblastoma		ISO	RGD:1320182	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	
1309699	Rhbdf2	rhomboid 5 homolog 2	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1320182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of uterus	PMID:28492532
1309699	Rhbdf2	rhomboid 5 homolog 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309702	Wdr48	WD repeat domain 48	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1347511	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
1309702	Wdr48	WD repeat domain 48	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309702	Wdr48	WD repeat domain 48	gene	DOID:10534	stomach cancer		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309702	Wdr48	WD repeat domain 48	gene	DOID:1115	sarcoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309702	Wdr48	WD repeat domain 48	gene	DOID:1561	cognitive disorder		ISO	RGD:1347511	D	RGD:11554173	20230404	CTD		CTD Direct Evidence: therapeutic	PMID:36047109
1309702	Wdr48	WD repeat domain 48	gene	DOID:1909	melanoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309702	Wdr48	WD repeat domain 48	gene	DOID:2394	ovarian cancer		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309702	Wdr48	WD repeat domain 48	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347511	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28832565
1309702	Wdr48	WD repeat domain 48	gene	DOID:3275	thymoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309702	Wdr48	WD repeat domain 48	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309702	Wdr48	WD repeat domain 48	gene	DOID:4362	cervical cancer		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309702	Wdr48	WD repeat domain 48	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309702	Wdr48	WD repeat domain 48	gene	DOID:5041	esophageal cancer		ISO	RGD:1347511	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309702	Wdr48	WD repeat domain 48	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309702	Wdr48	WD repeat domain 48	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309702	Wdr48	WD repeat domain 48	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309702	Wdr48	WD repeat domain 48	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309703	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309703	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309703	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:1115	sarcoma		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309703	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:1324	lung cancer		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309703	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309703	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309703	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320187	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309703	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309703	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:6039	uveal melanoma		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309703	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309703	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309703	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:9007661	Dwarfism		ISO	RGD:1320187	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1309703	Adgrb3	adhesion G protein-coupled receptor B3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:0060058	lymphoma		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1320189	D	RGD:8554872	20230404	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:1909	melanoma		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1320189	D	RGD:11554173	20230329	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:9001254	Epidermolysis Bullosa Simplex 5D with Nail Dystrophy		ISO	RGD:1320189	D	RGD:8554872	20230404	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1320189	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Pulmonary artery atresia	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309704	Bclaf1	BCL2-associated transcription factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1320189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309708	Ccdc181	coiled-coil domain containing 181	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309708	Ccdc181	coiled-coil domain containing 181	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309708	Ccdc181	coiled-coil domain containing 181	gene	DOID:1909	melanoma		ISO	RGD:1602471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309708	Ccdc181	coiled-coil domain containing 181	gene	DOID:5041	esophageal cancer		ISO	RGD:1602471	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309708	Ccdc181	coiled-coil domain containing 181	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309709	Mvb12b	multivesicular body subunit 12B	gene	DOID:10534	stomach cancer		ISO	RGD:1320196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309709	Mvb12b	multivesicular body subunit 12B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309709	Mvb12b	multivesicular body subunit 12B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309709	Mvb12b	multivesicular body subunit 12B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309709	Mvb12b	multivesicular body subunit 12B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309709	Mvb12b	multivesicular body subunit 12B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309709	Mvb12b	multivesicular body subunit 12B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309710	Trmt112	tRNA methyltransferase activator subunit 11-2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309710	Trmt112	tRNA methyltransferase activator subunit 11-2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309710	Trmt112	tRNA methyltransferase activator subunit 11-2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309710	Trmt112	tRNA methyltransferase activator subunit 11-2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309712	Tmem175	transmembrane protein 175	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309712	Tmem175	transmembrane protein 175	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309712	Tmem175	transmembrane protein 175	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309712	Tmem175	transmembrane protein 175	gene	DOID:1115	sarcoma		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309712	Tmem175	transmembrane protein 175	gene	DOID:1324	lung cancer		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309712	Tmem175	transmembrane protein 175	gene	DOID:1909	melanoma		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309712	Tmem175	transmembrane protein 175	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309712	Tmem175	transmembrane protein 175	gene	DOID:4362	cervical cancer		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309712	Tmem175	transmembrane protein 175	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309712	Tmem175	transmembrane protein 175	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309712	Tmem175	transmembrane protein 175	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309712	Tmem175	transmembrane protein 175	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309712	Tmem175	transmembrane protein 175	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:0060058	lymphoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1348971	D	RGD:11528589|PMID:22984654	20160816	RGD		DNA:snp:intron:c.1883+365T>C (rs1351965) (human)	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:1115	sarcoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:1324	lung cancer		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:1909	melanoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348971	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348971	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:9008885	Staphylococcal Infections	susceptibility	ISO	RGD:1348971	D	RGD:11530009|PMID:24847357	20160818	RGD		DNA:snp:intron:c.2339+1477G>A (rs7643377) (human)	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309713	Xrn1	5'-3' exoribonuclease 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:0050952	spastic ataxia		ISO	RGD:1320201	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy		ISO	RGD:1320201	D	RGD:8554872	20210209	ClinVar		ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy	PMID:25741868|PMID:26467025|PMID:28492532
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:0110721	neuronal ceroid lipofuscinosis 1		ISO	RGD:1320201	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1	PMID:21990111|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29482223
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:0110729	neuronal ceroid lipofuscinosis 6A		ISO	RGD:1320201	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:23516525
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:0110729	neuronal ceroid lipofuscinosis 6A		ISO	RGD:1320201	D	RGD:7240710	20130221	OMIM			
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:0110729	neuronal ceroid lipofuscinosis 6A		ISO	RGD:1320201	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 6A | ClinVar Annotator: match by term: CLN6-related disorder | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis, late infantile, variant	PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:15265688|PMID:15996215|PMID:16199547|PMID:17453415|PMID:17576681|PMID:18684116|PMID:18811591|PMID:18846690|PMID:19135028|PMID:19201763|PMID:20301601|PMID:20430023|PMID:21359198|PMID:21549341|PMID:21819394|PMID:21990111|PMID:22883287|PMID:23374165|PMID:23735787|PMID:24102492|PMID:24215330|PMID:25359263|PMID:25401298|PMID:25590979|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26206375|PMID:26374131|PMID:26467025|PMID:26539891|PMID:27848944|PMID:27903347|PMID:28492532|PMID:28587997|PMID:28831385|PMID:29140481|PMID:29482223|PMID:29709712|PMID:30285654|PMID:30528883|PMID:30561534|PMID:31216804|PMID:31319225|PMID:31489614|PMID:31743419|PMID:32171521|PMID:32412666|PMID:32961395|PMID:33024953|PMID:34220062|PMID:34597687|PMID:34849271|PMID:34868216|PMID:35505348|PMID:36034292|PMID:37074398|PMID:38374194|PMID:38382230|PMID:9536098
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:0110729	neuronal ceroid lipofuscinosis 6A		ISS	RGD:1320202	D	RGD:13592920	20230718	MouseDO		OMIM:601780	
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:0110730	neuronal ceroid lipofuscinosis 6B		ISO	RGD:1320201	D	RGD:7240710	20180314	OMIM			
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:0110730	neuronal ceroid lipofuscinosis 6B		ISO	RGD:1320201	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4A	PMID:21549341|PMID:21990111|PMID:25741868|PMID:26075876|PMID:26467025|PMID:28492532|PMID:29482223|PMID:32171521
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:1115	sarcoma		ISO	RGD:1320201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1320201	D	RGD:11064442|PMID:21549341	20170420	RGD		DNA:mutations: :	
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1320201	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:23789114
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1320201	D	RGD:1358512|PMID:11791207	19990101	RGD			
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1320201	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:12673792|PMID:12815591|PMID:15996215|PMID:16199547|PMID:17046213|PMID:17576681|PMID:17988881|PMID:18811591|PMID:18846690|PMID:19135028|PMID:20430023|PMID:21549341|PMID:21990111|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26115733|PMID:26206375|PMID:26467025|PMID:27553520|PMID:27903347|PMID:28492532|PMID:28831385|PMID:29482223|PMID:30561534|PMID:31216804|PMID:31741823|PMID:32171521|PMID:33024953|PMID:34786481|PMID:34867278|PMID:35482158|PMID:35505348|PMID:38374194|PMID:39675099|PMID:9536098
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1320202	D	RGD:1358512|PMID:11791207	20150219	RGD			
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:1826	epilepsy		ISO	RGD:1320201	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:14997940|PMID:15265688|PMID:16199547|PMID:19135028|PMID:21359198|PMID:21549341|PMID:21990111|PMID:25359263|PMID:25741868|PMID:26075876|PMID:26467025|PMID:27535533|PMID:27553520|PMID:28492532|PMID:30019023|PMID:30285654|PMID:30561534
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:1826	epilepsy		ISO	RGD:1320201	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:19201763|PMID:25741868|PMID:28492532|PMID:34849271|PMID:37074398
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:5679	retinal disease		ISO	RGD:1320201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:19135028|PMID:25741868|PMID:26539891|PMID:27903347|PMID:28492532|PMID:30561534|PMID:35505348|PMID:36435927|PMID:38857616|PMID:6075876
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:630	genetic disease		ISO	RGD:1320201	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21990111|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26206375|PMID:26467025|PMID:28492532|PMID:29482223
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1320201	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:25401298
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:9000343	Vision Disorders		ISO	RGD:1320201	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:23789114
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:9001981	Weight Loss		ISO	RGD:1320201	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:23789114
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320201	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:9004462	Atrophy		ISO	RGD:1320201	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:23789114
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:9005372	Inflammation		ISO	RGD:1320201	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:23789114
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1320201	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:23789114
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1320201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1320201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309714	Cln6	CLN6, transmembrane ER protein	gene	DOID:9923	developmental coordination disorder		ISO	RGD:1320201	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:23789114
1309715	Cbln2	cerebellin 2 precursor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309715	Cbln2	cerebellin 2 precursor	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1320203	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:23502781
1309715	Cbln2	cerebellin 2 precursor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309716	Ndfip2	Nedd4 family interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309716	Ndfip2	Nedd4 family interacting protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309716	Ndfip2	Nedd4 family interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309716	Ndfip2	Nedd4 family interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320205	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309716	Ndfip2	Nedd4 family interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309716	Ndfip2	Nedd4 family interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309717	Ift88	intraflagellar transport 88	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1320207	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868|PMID:28492532|PMID:34906470
1309717	Ift88	intraflagellar transport 88	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1320207	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	
1309717	Ift88	intraflagellar transport 88	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309717	Ift88	intraflagellar transport 88	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1320207	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9362446
1309717	Ift88	intraflagellar transport 88	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1320207	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8191288|PMID:8608416
1309717	Ift88	intraflagellar transport 88	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISS	RGD:1551338	D	RGD:13592920	20230718	MouseDO		OMIM:263200	
1309717	Ift88	intraflagellar transport 88	gene	DOID:10325	silicosis		IEP		D	RGD:155791682|PMID:32042332	20230105	RGD		protein:decreased expression:lung	
1309717	Ift88	intraflagellar transport 88	gene	DOID:10534	stomach cancer		ISO	RGD:1320207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309717	Ift88	intraflagellar transport 88	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320207	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868
1309717	Ift88	intraflagellar transport 88	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309717	Ift88	intraflagellar transport 88	gene	DOID:1115	sarcoma		ISO	RGD:1320207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309717	Ift88	intraflagellar transport 88	gene	DOID:1148	polydactyly		ISO	RGD:1320207	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12701101
1309717	Ift88	intraflagellar transport 88	gene	DOID:12858	Huntington's disease		ISO	RGD:1551338	D	RGD:13432581|PMID:25989602	20171002	RGD		protein:altered localization:cilia	
1309717	Ift88	intraflagellar transport 88	gene	DOID:1909	melanoma		ISO	RGD:1320207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309717	Ift88	intraflagellar transport 88	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309717	Ift88	intraflagellar transport 88	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1320207	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1309717	Ift88	intraflagellar transport 88	gene	DOID:3275	thymoma		ISO	RGD:1320207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309717	Ift88	intraflagellar transport 88	gene	DOID:4297	scimitar syndrome		ISS	RGD:1551338	D	RGD:13592920	20240125	MouseDO		OMIM:106700	
1309717	Ift88	intraflagellar transport 88	gene	DOID:5041	esophageal cancer		ISO	RGD:1320207	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309717	Ift88	intraflagellar transport 88	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309717	Ift88	intraflagellar transport 88	gene	DOID:61	mitral valve disease		ISS	RGD:1551338	D	RGD:13592920	20210715	MouseDO			
1309717	Ift88	intraflagellar transport 88	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309717	Ift88	intraflagellar transport 88	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309717	Ift88	intraflagellar transport 88	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309717	Ift88	intraflagellar transport 88	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1320207	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:9362446
1309717	Ift88	intraflagellar transport 88	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309717	Ift88	intraflagellar transport 88	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309717	Ift88	intraflagellar transport 88	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1320207	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1309718	Specc1	sperm antigen with calponin homology and coiled-coil domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309718	Specc1	sperm antigen with calponin homology and coiled-coil domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606479	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309718	Specc1	sperm antigen with calponin homology and coiled-coil domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1606479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309718	Specc1	sperm antigen with calponin homology and coiled-coil domains 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1606479	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1309718	Specc1	sperm antigen with calponin homology and coiled-coil domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309718	Specc1	sperm antigen with calponin homology and coiled-coil domains 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309718	Specc1	sperm antigen with calponin homology and coiled-coil domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309718	Specc1	sperm antigen with calponin homology and coiled-coil domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309718	Specc1	sperm antigen with calponin homology and coiled-coil domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309718	Specc1	sperm antigen with calponin homology and coiled-coil domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309718	Specc1	sperm antigen with calponin homology and coiled-coil domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309719	Coro2a	coronin 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309719	Coro2a	coronin 2A	gene	DOID:1115	sarcoma		ISO	RGD:1320210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309719	Coro2a	coronin 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320210	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309719	Coro2a	coronin 2A	gene	DOID:2661	myoepithelioma		ISO	RGD:1320210	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1309719	Coro2a	coronin 2A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309719	Coro2a	coronin 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1320210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309719	Coro2a	coronin 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1320210	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309719	Coro2a	coronin 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309719	Coro2a	coronin 2A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309719	Coro2a	coronin 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309719	Coro2a	coronin 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309720	Depdc7	DEP domain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309720	Depdc7	DEP domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1602447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309720	Depdc7	DEP domain containing 7	gene	DOID:3275	thymoma		ISO	RGD:1602447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309720	Depdc7	DEP domain containing 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309720	Depdc7	DEP domain containing 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602447	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309724	Lipk	lipase, family member K	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309724	Lipk	lipase, family member K	gene	DOID:4362	cervical cancer		ISO	RGD:1320217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309724	Lipk	lipase, family member K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309724	Lipk	lipase, family member K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309725	Dvl2	dishevelled segment polarity protein 2	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISS	RGD:1320220	D	RGD:13592920	20210930	MouseDO			
1309725	Dvl2	dishevelled segment polarity protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309725	Dvl2	dishevelled segment polarity protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1320219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309725	Dvl2	dishevelled segment polarity protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309725	Dvl2	dishevelled segment polarity protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309725	Dvl2	dishevelled segment polarity protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309725	Dvl2	dishevelled segment polarity protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309726	Abhd16b	abhydrolase domain containing 16B	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1320221	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
1309727	Mapk8ip2	mitogen-activated protein kinase 8 interacting protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1320222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309727	Mapk8ip2	mitogen-activated protein kinase 8 interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309727	Mapk8ip2	mitogen-activated protein kinase 8 interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320222	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309727	Mapk8ip2	mitogen-activated protein kinase 8 interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309727	Mapk8ip2	mitogen-activated protein kinase 8 interacting protein 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1320222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309727	Mapk8ip2	mitogen-activated protein kinase 8 interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309727	Mapk8ip2	mitogen-activated protein kinase 8 interacting protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309727	Mapk8ip2	mitogen-activated protein kinase 8 interacting protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309728	Cbr3	carbonyl reductase 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320224	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1309728	Cbr3	carbonyl reductase 3	gene	DOID:9003178	Familial Platelet Disorder with Associated Myeloid Malignancy		ISO	RGD:151796458	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	PMID:17237124|PMID:23512985|PMID:28492532
1309728	Cbr3	carbonyl reductase 3	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1320224	D	RGD:2316291|PMID:19088887	20100204	RGD		mRNA:decreased expression:oral squamous cell carcinoma (human)	
1309730	Iftap	intraflagellar transport associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309730	Iftap	intraflagellar transport associated protein	gene	DOID:0080600	COVID-19		ISO	RGD:1603277	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309730	Iftap	intraflagellar transport associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309730	Iftap	intraflagellar transport associated protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309730	Iftap	intraflagellar transport associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1603277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309730	Iftap	intraflagellar transport associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1603277	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309730	Iftap	intraflagellar transport associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309730	Iftap	intraflagellar transport associated protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309730	Iftap	intraflagellar transport associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309731	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309731	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309731	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:0081301	intellectual developmental disorder with ocular anomalies and distinctive facial features		ISO	RGD:1603934	D	RGD:7240710	20221102	OMIM			
1309731	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:0081301	intellectual developmental disorder with ocular anomalies and distinctive facial features		ISO	RGD:1603934	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with ocular anomalies and distinctive facial features | ClinVar Annotator: match by term: MTSS2-related neurodevelopmental disorder	PMID:25741868|PMID:36067766|PMID:36332614|PMID:37657631|PMID:39890443
1309731	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309731	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1603934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1309731	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309731	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309731	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309731	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309731	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309731	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309731	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309731	Mtss2	MTSS I-BAR domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309732	Matn4	matrilin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309732	Matn4	matrilin 4	gene	DOID:10907	microcephaly		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1309732	Matn4	matrilin 4	gene	DOID:1324	lung cancer		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309732	Matn4	matrilin 4	gene	DOID:1826	epilepsy		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25558065
1309732	Matn4	matrilin 4	gene	DOID:1826	epilepsy		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	
1309732	Matn4	matrilin 4	gene	DOID:4621	holoprosencephaly		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence	
1309732	Matn4	matrilin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309732	Matn4	matrilin 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320229	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1309732	Matn4	matrilin 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1309732	Matn4	matrilin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309732	Matn4	matrilin 4	gene	DOID:930	orbital disease		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proptosis	
1309732	Matn4	matrilin 4	gene	DOID:9409	diabetes insipidus		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	
1309735	Lamtor4	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	gene	DOID:1324	lung cancer		ISO	RGD:1604690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309735	Lamtor4	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	gene	DOID:4362	cervical cancer		ISO	RGD:1604690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309735	Lamtor4	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:10534	stomach cancer		ISO	RGD:1320234	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:1115	sarcoma		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:11476	osteoporosis		ISO	RGD:1320234	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20548961
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:12858	Huntington's disease		ISS	RGD:1320235	D	RGD:13592920	20180518	MouseDO		OMIM:143100	
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:1324	lung cancer		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:4362	cervical cancer		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320234	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1320234	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320234	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:9120	amyloidosis		ISO	RGD:1320234	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20548961
1309736	Zdhhc13	zDHHC palmitoyltransferase 13	gene	DOID:987	alopecia		ISO	RGD:1320234	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20548961
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:1909	melanoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320236	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1320236	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309737	Tbrg4	transforming growth factor beta regulator 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309738	Caskin2	cask-interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309738	Caskin2	cask-interacting protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309738	Caskin2	cask-interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309738	Caskin2	cask-interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309738	Caskin2	cask-interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320238	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309738	Caskin2	cask-interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309738	Caskin2	cask-interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309738	Caskin2	cask-interacting protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309738	Caskin2	cask-interacting protein 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1320238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309739	Foxr1	forkhead box R1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309739	Foxr1	forkhead box R1	gene	DOID:1324	lung cancer		ISO	RGD:1320240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309739	Foxr1	forkhead box R1	gene	DOID:3070	high grade glioma		ISO	RGD:1320240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309739	Foxr1	forkhead box R1	gene	DOID:3275	thymoma		ISO	RGD:1320240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:0050852	limb ischemia	ameliorates	ISO	RGD:1320241	D	RGD:155663375|PMID:35301145	20221114	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:0050852	limb ischemia	ameliorates	ISO	RGD:1320242	D	RGD:155663358|PMID:22252294	20221111	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:0050852	limb ischemia	exacerbates	ISO	RGD:1320242	D	RGD:155641249|PMID:20508179	20221104	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:0060227	Adams-Oliver syndrome		ISO	RGD:1320241	D	RGD:11554173	20180109	CTD		CTD Direct Evidence: marker/mechanism	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:0060227	Adams-Oliver syndrome		ISO	RGD:1320241	D	RGD:8554872	20180807	ClinVar		ClinVar Annotator: match by term: Adams-Oliver Syndrome	PMID:26299364|PMID:29924900
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:0060227	Adams-Oliver syndrome		ISO	RGD:1320242	D	RGD:155663357|PMID:33899511	20221111	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:0060227	Adams-Oliver syndrome		ISS	RGD:1320242	D	RGD:13592920	20231116	MouseDO		OMIM:100300 | OMIM:614219 | OMIM:614814 | OMIM:615297 | OMIM:616028	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:0080322	polycystic kidney disease	treatment	IEP		D	RGD:155791442|PMID:32685025	20221216	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:1115	sarcoma		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:13025	retinopathy of prematurity	treatment	IEP		D	RGD:155663485|PMID:30652694	20221117	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1320241	D	RGD:155641260|PMID:20167860	20221107	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:1320242	D	RGD:155641244|PMID:22699504	20221103	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:1320242	D	RGD:155663380|PMID:30909142	20221115	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:224	transient cerebral ischemia	ameliorates	ISO	RGD:1320242	D	RGD:155663354|PMID:31927543	20221111	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:224	transient cerebral ischemia	disease_progression	IEP		D	RGD:155663383|PMID:30653356	20221115	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:224	transient cerebral ischemia	treatment	IEP		D	RGD:155663419|PMID:30258350	20221116	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:264	hemangiopericytoma		ISO	RGD:1320241	D	RGD:155663351|PMID:26951238	20221110	RGD		mRNA,protein:increased expression:anterior temporal lobe	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:3021	acute kidney failure	ameliorates	ISO	RGD:1320242	D	RGD:155663373|PMID:19828677	20221114	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:3070	high grade glioma	ameliorates	ISO	RGD:1320242	D	RGD:155791441|PMID:17183313	20221216	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:326	ischemia		IEP		D	RGD:155663350|PMID:25834117	20221110	RGD		mRNA,protein:increased expression:skin,endothelial cells	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:326	ischemia	ameliorates	ISO	RGD:1320242	D	RGD:155663358|PMID:22252294	20221111	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:3275	thymoma		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:4450	renal cell carcinoma	treatment	ISO	RGD:1320241	D	RGD:155663382|PMID:25618828	20221115	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1320241	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:5241	hemangioblastoma		ISO	RGD:1320241	D	RGD:155641257|PMID:27388534	20221107	RGD		mRNA,protein:increased expression:temporal lobe :	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:630	genetic disease		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:28518168|PMID:32461654
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:6406	double outlet right ventricle	susceptibility	ISO	RGD:1320242	D	RGD:155663381|PMID:34859965	20221115	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1320242	D	RGD:155646132|PMID:34739767	20221108	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:799	varicose veins		ISO	RGD:1320241	D	RGD:11529441|PMID:26808710	20221107	RGD		mRNA,protein:increased expression:vein:	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1320242	D	RGD:155663348|PMID:30787185	20221110	RGD		mRNA,protein:increased expression:retina:	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:8947	diabetic retinopathy	severity	ISO	RGD:1320241	D	RGD:155663356|PMID:34362349	20221111	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9000146	Plaque, Atherosclerotic		ISO	RGD:1320242	D	RGD:155641244|PMID:22699504	20221103	RGD		protein:increased expression:aorta	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9000713	Surgical Wound	treatment	IEP		D	RGD:155641256|PMID:34256844	20221107	RGD		associated with type 1 diabetes mellitus;	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9000970	Focal Nodular Hyperplasia		ISO	RGD:1320241	D	RGD:155646133|PMID:23870033	20221108	RGD		mRNA:decreased expression:liver	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9001044	Choroidal Neovascularization	treatment	IEP		D	RGD:12859045|PMID:21063852	20221130	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9001919	Vascular Neoplasms		IMP		D	RGD:155641259|PMID:20147986	20221107	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	ameliorates	ISO	RGD:1320242	D	RGD:155663662|PMID:21813770	20221201	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9002909	Oxygen-Induced Retinopathy	treatment	IEP		D	RGD:155663663|PMID:26670826	20221201	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9003191	Vascular Malformations		ISO	RGD:1320241	D	RGD:155663361|PMID:24219762	20221111	RGD		protein:increased expression:intestine:	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9003191	Vascular Malformations		ISO	RGD:1320241	D	RGD:155663363|PMID:21955427	20221111	RGD		protein:increased expression:serum:	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1320242	D	RGD:155663352|PMID:23188126	20221111	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9004397	Calcification of Aortic Valve	ameliorates	ISO	RGD:1320242	D	RGD:155641244|PMID:22699504	20221103	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9005333	Adams-Oliver Syndrome 6		ISO	RGD:1320241	D	RGD:7240710	20180103	OMIM			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9005333	Adams-Oliver Syndrome 6		ISO	RGD:1320241	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADAMS-OLIVER SYNDROME 6 | ClinVar Annotator: match by term: Adams-Oliver syndrome 6 | ClinVar Annotator: match by term: DLL4-related condition	PMID:25741868|PMID:26299364|PMID:28492532|PMID:29924900|PMID:33899511|PMID:616589
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9005647	Experimental Autoimmune Uveitis	disease_progression	IEP		D	RGD:155791448|PMID:31209505	20221219	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9006151	Choroidal Neovascularization, Experimental	treatment	IEP		D	RGD:155663484|PMID:21526177	20221117	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9007102	Myocardial Ischemia	treatment	IEP		D	RGD:155641250|PMID:32089723	20221104	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9007730	Burns	treatment	IEP		D	RGD:155663481|PMID:28319529	20221117	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9008022	Temporomandibular Joint Osteoarthritis	disease_progression	IEP		D	RGD:155791443|PMID:28147322	20221216	RGD			
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1320241	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21036696
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9351	diabetes mellitus		IEP		D	RGD:155646129|PMID:30886104	20221108	RGD		protein:increased expression:skin:	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9351	diabetes mellitus		ISO	RGD:1320242	D	RGD:155646129|PMID:30886104	20221108	RGD		protein:increased expression:skin:	
1309740	Dll4	delta like canonical Notch ligand 4	gene	DOID:9351	diabetes mellitus	ameliorates	ISO	RGD:1320242	D	RGD:155663360|PMID:29386132	20221111	RGD			
1309741	Olfm2	olfactomedin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309741	Olfm2	olfactomedin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309741	Olfm2	olfactomedin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309742	Arhgap23	Rho GTPase activating protein 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309742	Arhgap23	Rho GTPase activating protein 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309742	Arhgap23	Rho GTPase activating protein 23	gene	DOID:0080600	COVID-19		ISO	RGD:1320244	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309742	Arhgap23	Rho GTPase activating protein 23	gene	DOID:10534	stomach cancer		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309742	Arhgap23	Rho GTPase activating protein 23	gene	DOID:1115	sarcoma		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309742	Arhgap23	Rho GTPase activating protein 23	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1320244	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1309742	Arhgap23	Rho GTPase activating protein 23	gene	DOID:3275	thymoma		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309742	Arhgap23	Rho GTPase activating protein 23	gene	DOID:4362	cervical cancer		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309742	Arhgap23	Rho GTPase activating protein 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1320244	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309742	Arhgap23	Rho GTPase activating protein 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309742	Arhgap23	Rho GTPase activating protein 23	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309742	Arhgap23	Rho GTPase activating protein 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309742	Arhgap23	Rho GTPase activating protein 23	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1601991	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20154675
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1601991	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Susceptibility to pheochromocytoma	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:22136840|PMID:22419703|PMID:22517557|PMID:22541004|PMID:24334765|PMID:25389632|PMID:25741868|PMID:26269449|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:30680046|PMID:32575117|PMID:33051659|PMID:34439168|PMID:34870338|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050771	pheochromocytoma	susceptibility	ISO	RGD:1601991	D	RGD:7240710	20230505	OMIM			
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29909963|PMID:30877234|PMID:31666924|PMID:32877928|PMID:33051659|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: PARAGANGLIOMATA | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29625052|PMID:33051659
1309744	Tmem127	transmembrane protein 127	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309744	Tmem127	transmembrane protein 127	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1601991	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Acute promyelocytic leukemia	PMID:25741868|PMID:28492532|PMID:32575117
1309744	Tmem127	transmembrane protein 127	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1601991	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome	PMID:16266984|PMID:17576681|PMID:20154675|PMID:25389632|PMID:25741868|PMID:28492532|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:11830	myopia		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
1309744	Tmem127	transmembrane protein 127	gene	DOID:1324	lung cancer		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309744	Tmem127	transmembrane protein 127	gene	DOID:1596	depressive disorder		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
1309744	Tmem127	transmembrane protein 127	gene	DOID:2030	anxiety disorder		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
1309744	Tmem127	transmembrane protein 127	gene	DOID:2394	ovarian cancer		ISO	RGD:1601991	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1309744	Tmem127	transmembrane protein 127	gene	DOID:3312	bipolar disorder		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
1309744	Tmem127	transmembrane protein 127	gene	DOID:4362	cervical cancer		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309744	Tmem127	transmembrane protein 127	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309744	Tmem127	transmembrane protein 127	gene	DOID:6039	uveal melanoma		ISO	RGD:1601991	D	RGD:8554872	20190409	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1309744	Tmem127	transmembrane protein 127	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:1601991	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29625052|PMID:33051659
1309744	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30877234|PMID:31666924|PMID:32575117|PMID:33051659
1309744	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338
1309744	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22517557|PMID:22541004|PMID:23551308|PMID:24033266|PMID:25741868|PMID:25800244|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:30680046|PMID:32575117|PMID:33051659|PMID:34308366|PMID:34439168|PMID:9536098
1309744	Tmem127	transmembrane protein 127	gene	DOID:9834	hyperopia		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
1309746	Zfp638	zinc finger protein 638	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309746	Zfp638	zinc finger protein 638	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309746	Zfp638	zinc finger protein 638	gene	DOID:0060058	lymphoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309746	Zfp638	zinc finger protein 638	gene	DOID:10534	stomach cancer		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309746	Zfp638	zinc finger protein 638	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309746	Zfp638	zinc finger protein 638	gene	DOID:1115	sarcoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309746	Zfp638	zinc finger protein 638	gene	DOID:1324	lung cancer		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309746	Zfp638	zinc finger protein 638	gene	DOID:1909	melanoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309746	Zfp638	zinc finger protein 638	gene	DOID:3070	high grade glioma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309746	Zfp638	zinc finger protein 638	gene	DOID:3275	thymoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309746	Zfp638	zinc finger protein 638	gene	DOID:4362	cervical cancer		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309746	Zfp638	zinc finger protein 638	gene	DOID:5041	esophageal cancer		ISO	RGD:1349975	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309746	Zfp638	zinc finger protein 638	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309746	Zfp638	zinc finger protein 638	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309746	Zfp638	zinc finger protein 638	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309746	Zfp638	zinc finger protein 638	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309746	Zfp638	zinc finger protein 638	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309746	Zfp638	zinc finger protein 638	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:1909	melanoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:3275	thymoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:2311267	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309747	Ice1	interactor of little elongation complex ELL subunit 1	gene	DOID:9256	colorectal cancer		ISO	RGD:2311267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309748	Hapstr1	HUWE1 associated protein modifying stress responses	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309748	Hapstr1	HUWE1 associated protein modifying stress responses	gene	DOID:10534	stomach cancer		ISO	RGD:1606021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309748	Hapstr1	HUWE1 associated protein modifying stress responses	gene	DOID:1115	sarcoma		ISO	RGD:1606021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309748	Hapstr1	HUWE1 associated protein modifying stress responses	gene	DOID:4362	cervical cancer		ISO	RGD:1606021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309748	Hapstr1	HUWE1 associated protein modifying stress responses	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309749	Trim16	tripartite motif-containing 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309749	Trim16	tripartite motif-containing 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309749	Trim16	tripartite motif-containing 16	gene	DOID:1115	sarcoma		ISO	RGD:1348776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309749	Trim16	tripartite motif-containing 16	gene	DOID:1324	lung cancer		ISO	RGD:1348776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309749	Trim16	tripartite motif-containing 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309749	Trim16	tripartite motif-containing 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309749	Trim16	tripartite motif-containing 16	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1348776	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35442568
1309750	Myo1f	myosin IF	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309750	Myo1f	myosin IF	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309750	Myo1f	myosin IF	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320254	D	RGD:8554872	20170228	ClinVar		ClinVar Annotator: match by term: bilateral sensorineural hearing impairment	
1309750	Myo1f	myosin IF	gene	DOID:10534	stomach cancer		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309750	Myo1f	myosin IF	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309750	Myo1f	myosin IF	gene	DOID:1115	sarcoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309750	Myo1f	myosin IF	gene	DOID:1909	melanoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309750	Myo1f	myosin IF	gene	DOID:4362	cervical cancer		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309750	Myo1f	myosin IF	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309750	Myo1f	myosin IF	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309750	Myo1f	myosin IF	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320254	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309750	Myo1f	myosin IF	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309750	Myo1f	myosin IF	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1320255	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:9536098
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1320255	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:9536098
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1320255	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:27601211|PMID:28124177|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:30467354|PMID:9536098
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1320255	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:27601211|PMID:28124177|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:30467354|PMID:33726816|PMID:9536098
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1320255	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:27601211|PMID:28124177|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:30467354|PMID:33726816|PMID:35642252|PMID:9536098
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1320255	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:27601211|PMID:28124177|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:30467354|PMID:33726816|PMID:35642252|PMID:39825153|PMID:9536098
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:26742954|PMID:27492651|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30467354|PMID:33726816|PMID:35642252|PMID:39825153|PMID:9536098
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1320255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:24613659|PMID:25725944|PMID:25741868|PMID:26257172|PMID:26742954|PMID:27492651|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30467354|PMID:33726816|PMID:35642252|PMID:9536098
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:23479643|PMID:25741868|PMID:27492651|PMID:28492532|PMID:29971521|PMID:33726816
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:0110809	hereditary spastic paraplegia 57		ISO	RGD:1320255	D	RGD:7240710	20150225	OMIM			
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:0110809	hereditary spastic paraplegia 57		ISO	RGD:1320255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 57 | ClinVar Annotator: match by term: Spastic paraplegia 57, autosomal recessive | ClinVar Annotator: match by term: TFG-related condition	PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:24613659|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28196470|PMID:28492532|PMID:29971521|PMID:33726816|PMID:35642252|PMID:9536098
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:1115	sarcoma		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:1324	lung cancer		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:1909	melanoma		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:3275	thymoma		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1320255	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:6039	uveal melanoma		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:607	paraplegia		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:23479643|PMID:25741868|PMID:27492651|PMID:28492532|PMID:29971521|PMID:33726816
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:630	genetic disease		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:23479643|PMID:25741868|PMID:27492651|PMID:28492532|PMID:29971521|PMID:33726816|PMID:35642252|PMID:9536098
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:767	muscular atrophy		ISO	RGD:1320255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:22883144|PMID:23553329|PMID:24613659|PMID:25725944|PMID:25741868|PMID:26257172|PMID:28196470|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:9000495	Tremor		ISO	RGD:1320255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:22883144|PMID:23553329|PMID:24613659|PMID:25725944|PMID:25741868|PMID:26257172|PMID:28196470|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:9001745	Fasciculation		ISO	RGD:1320255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fasciculations	PMID:22883144|PMID:23553329|PMID:24613659|PMID:25725944|PMID:25741868|PMID:26257172|PMID:28196470|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:9001905	Hereditary Motor and Sensory Neuropathy, Okinawa Type		ISO	RGD:1320255	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:9001905	Hereditary Motor and Sensory Neuropathy, Okinawa Type		ISO	RGD:1320255	D	RGD:7240710	20150225	OMIM			
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:9001905	Hereditary Motor and Sensory Neuropathy, Okinawa Type		ISO	RGD:1320255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:24613659|PMID:25725944|PMID:25741868|PMID:26257172|PMID:26742954|PMID:27492651|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30467354|PMID:33726816|PMID:35642252|PMID:9536098
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:9003539	Hyperacusis		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:23479643|PMID:25741868|PMID:27492651|PMID:28492532|PMID:29971521|PMID:33726816
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:9006743	Spasm		ISO	RGD:1320255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:22883144|PMID:23553329|PMID:24613659|PMID:25725944|PMID:25741868|PMID:26257172|PMID:28196470|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:23479643|PMID:25741868|PMID:27492651|PMID:28492532|PMID:29971521|PMID:33726816
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:9008993	Myotonia		ISO	RGD:1320255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myotonia	PMID:22883144|PMID:23553329|PMID:24613659|PMID:25725944|PMID:25741868|PMID:26257172|PMID:28196470|PMID:28492532
1309751	Tfg	trafficking from ER to golgi regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: RUNX1-related disorder	PMID:25741868|PMID:28492532
1309752	Hycc2	hyccin PI4KA lipid kinase complex subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309752	Hycc2	hyccin PI4KA lipid kinase complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309752	Hycc2	hyccin PI4KA lipid kinase complex subunit 2	gene	DOID:9004657	Weight Gain		ISO	RGD:1605824	D	RGD:11554173	20221004	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1309753	Vamp4	vesicle-associated membrane protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309753	Vamp4	vesicle-associated membrane protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309753	Vamp4	vesicle-associated membrane protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309753	Vamp4	vesicle-associated membrane protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309753	Vamp4	vesicle-associated membrane protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1320258	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309753	Vamp4	vesicle-associated membrane protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309753	Vamp4	vesicle-associated membrane protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1320258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309753	Vamp4	vesicle-associated membrane protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309753	Vamp4	vesicle-associated membrane protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309753	Vamp4	vesicle-associated membrane protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309754	Vps36	vacuolar protein sorting 36 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309754	Vps36	vacuolar protein sorting 36 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1320260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309754	Vps36	vacuolar protein sorting 36 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1320260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309754	Vps36	vacuolar protein sorting 36 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309754	Vps36	vacuolar protein sorting 36 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309754	Vps36	vacuolar protein sorting 36 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309754	Vps36	vacuolar protein sorting 36 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309756	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309756	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309756	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309756	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:1115	sarcoma		ISO	RGD:1320262	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309756	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309756	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309756	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320262	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309756	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309756	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309756	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309756	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309756	Rgl3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309757	Cd72	Cd72 molecule	gene	DOID:1115	sarcoma		ISO	RGD:1320264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309757	Cd72	Cd72 molecule	gene	DOID:3070	high grade glioma		ISO	RGD:1320264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309757	Cd72	Cd72 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1320264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309757	Cd72	Cd72 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309757	Cd72	Cd72 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309758	Exosc7	exosome component 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309758	Exosc7	exosome component 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309758	Exosc7	exosome component 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309758	Exosc7	exosome component 7	gene	DOID:1115	sarcoma		ISO	RGD:1320266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309758	Exosc7	exosome component 7	gene	DOID:1324	lung cancer		ISO	RGD:1320266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309758	Exosc7	exosome component 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309758	Exosc7	exosome component 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309758	Exosc7	exosome component 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309758	Exosc7	exosome component 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309758	Exosc7	exosome component 7	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309758	Exosc7	exosome component 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309758	Exosc7	exosome component 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309759	Ginm1	glycosylated integral membrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309759	Ginm1	glycosylated integral membrane protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309759	Ginm1	glycosylated integral membrane protein 1	gene	DOID:3275	thymoma		ISO	RGD:1320268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309759	Ginm1	glycosylated integral membrane protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309759	Ginm1	glycosylated integral membrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309759	Ginm1	glycosylated integral membrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309759	Ginm1	glycosylated integral membrane protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309761	Traip	TRAF-interacting protein	gene	DOID:0070005	Seckel syndrome 9		ISO	RGD:1601884	D	RGD:7240710	20190315	OMIM			
1309761	Traip	TRAF-interacting protein	gene	DOID:0070005	Seckel syndrome 9		ISO	RGD:1601884	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: SECKEL SYNDROME 9 | ClinVar Annotator: match by term: Seckel syndrome 9 | ClinVar Annotator: match by term: TRAIP-related condition	PMID:17576681|PMID:25741868|PMID:26595769|PMID:28492532|PMID:31974414|PMID:9536098
1309761	Traip	TRAF-interacting protein	gene	DOID:10907	microcephaly		ISO	RGD:1601884	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26595769
1309761	Traip	TRAF-interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1601884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309761	Traip	TRAF-interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1601884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309761	Traip	TRAF-interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309761	Traip	TRAF-interacting protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309761	Traip	TRAF-interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309761	Traip	TRAF-interacting protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309761	Traip	TRAF-interacting protein	gene	DOID:630	genetic disease		ISO	RGD:1601884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309761	Traip	TRAF-interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601884	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1309761	Traip	TRAF-interacting protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1601884	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26595769
1309761	Traip	TRAF-interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606926	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:1115	sarcoma		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:1324	lung cancer		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:1909	melanoma		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:251	alcohol-induced mental disorder		ISO	RGD:1606926	D	RGD:11554173	20230117	CTD		CTD Direct Evidence: marker/mechanism	PMID:35713687
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:3393	coronary artery disease		ISO	RGD:1606926	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22751097
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606926	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:9003289	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM		ISO	RGD:1606926	D	RGD:7240710	20230505	OMIM			
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:9003289	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM		ISO	RGD:1606926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HECTD4-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum	PMID:25741868
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309762	Hectd4	HECT domain E3 ubiquitin protein ligase 4	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1606926	D	RGD:11554173	20230117	CTD		CTD Direct Evidence: marker/mechanism	PMID:35713687
1309763	Snx4	sorting nexin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309763	Snx4	sorting nexin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309763	Snx4	sorting nexin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309763	Snx4	sorting nexin 4	gene	DOID:1115	sarcoma		ISO	RGD:1320273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309763	Snx4	sorting nexin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309763	Snx4	sorting nexin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309763	Snx4	sorting nexin 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309763	Snx4	sorting nexin 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309763	Snx4	sorting nexin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309763	Snx4	sorting nexin 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309763	Snx4	sorting nexin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309764	Slc45a3	solute carrier family 45, member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309764	Slc45a3	solute carrier family 45, member 3	gene	DOID:0080600	COVID-19		ISO	RGD:1346444	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309764	Slc45a3	solute carrier family 45, member 3	gene	DOID:3307	teratoma		ISO	RGD:1346444	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
1309764	Slc45a3	solute carrier family 45, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309764	Slc45a3	solute carrier family 45, member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:0061132	autosomal recessive limb-girdle muscular dystrophy type 23		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23	PMID:25741868|PMID:30843302|PMID:31575891|PMID:32528171
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1604800	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: autosomal recessive limb-girdle muscular dystrophy	PMID:17576681|PMID:23830518|PMID:25741868|PMID:26322222|PMID:28327206|PMID:28492532|PMID:30105108|PMID:9536098
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:0110287	autosomal recessive limb-girdle muscular dystrophy type 2S		ISO	RGD:1604800	D	RGD:7240710	20140911	OMIM			
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:0110287	autosomal recessive limb-girdle muscular dystrophy type 2S		ISO	RGD:1604800	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb girdle muscular dystrophy type 2S | ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2S | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2S | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 | ClinVar Annotator: match by term: TRAPPC11-related condition	PMID:23830518|PMID:25741868|PMID:26322222|PMID:26467025|PMID:27862579|PMID:28492532|PMID:29758565|PMID:34648194|PMID:35628876|PMID:38564972|PMID:40527196
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:10534	stomach cancer		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29758565
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:1059	intellectual disability		ISO	RGD:1604800	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	PMID:28492532
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:1059	intellectual disability		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:1115	sarcoma		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1604800	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:23830518|PMID:24033266|PMID:26322222|PMID:27707803|PMID:28492532|PMID:30105108
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:1324	lung cancer		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:1826	epilepsy		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:1909	melanoma		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:23830518|PMID:24033266|PMID:26322222|PMID:27707803|PMID:28492532|PMID:30105108
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:3275	thymoma		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:423	myopathy		ISO	RGD:1604800	D	RGD:8554872	20210810	ClinVar		ClinVar Annotator: match by term: Myopathy	
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:4362	cervical cancer		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1604800	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:630	genetic disease		ISO	RGD:1604800	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:9536098
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:9000052	Breech Presentation		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breech presentation	PMID:25741868
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:28492532
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:9007661	Dwarfism		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:17576681|PMID:28492532|PMID:9536098
1309765	Trappc11	trafficking protein particle complex subunit 11	gene	DOID:9884	muscular dystrophy		ISO	RGD:1604800	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:23830518|PMID:25741868|PMID:26322222|PMID:26912795|PMID:28492532
1309766	Rmnd5a	required for meiotic nuclear division 5 homolog A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309766	Rmnd5a	required for meiotic nuclear division 5 homolog A	gene	DOID:10534	stomach cancer		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309766	Rmnd5a	required for meiotic nuclear division 5 homolog A	gene	DOID:1115	sarcoma		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309766	Rmnd5a	required for meiotic nuclear division 5 homolog A	gene	DOID:1324	lung cancer		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309766	Rmnd5a	required for meiotic nuclear division 5 homolog A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309766	Rmnd5a	required for meiotic nuclear division 5 homolog A	gene	DOID:2394	ovarian cancer		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309766	Rmnd5a	required for meiotic nuclear division 5 homolog A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309766	Rmnd5a	required for meiotic nuclear division 5 homolog A	gene	DOID:4362	cervical cancer		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309766	Rmnd5a	required for meiotic nuclear division 5 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309766	Rmnd5a	required for meiotic nuclear division 5 homolog A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309766	Rmnd5a	required for meiotic nuclear division 5 homolog A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309767	Man1a2	mannosidase, alpha, class 1A, member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309767	Man1a2	mannosidase, alpha, class 1A, member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309767	Man1a2	mannosidase, alpha, class 1A, member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309767	Man1a2	mannosidase, alpha, class 1A, member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309767	Man1a2	mannosidase, alpha, class 1A, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309767	Man1a2	mannosidase, alpha, class 1A, member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309767	Man1a2	mannosidase, alpha, class 1A, member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309767	Man1a2	mannosidase, alpha, class 1A, member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309768	Ahcyl1	adenosylhomocysteinase-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309768	Ahcyl1	adenosylhomocysteinase-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1320280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309768	Ahcyl1	adenosylhomocysteinase-like 1	gene	DOID:1909	melanoma		ISO	RGD:1320280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309768	Ahcyl1	adenosylhomocysteinase-like 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1320280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309768	Ahcyl1	adenosylhomocysteinase-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309768	Ahcyl1	adenosylhomocysteinase-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320280	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309768	Ahcyl1	adenosylhomocysteinase-like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309768	Ahcyl1	adenosylhomocysteinase-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309769	Bbx	BBX high mobility group box domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309769	Bbx	BBX high mobility group box domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1320282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309769	Bbx	BBX high mobility group box domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1320282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309769	Bbx	BBX high mobility group box domain containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309769	Bbx	BBX high mobility group box domain containing	gene	DOID:3070	high grade glioma		ISO	RGD:1320282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309769	Bbx	BBX high mobility group box domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309769	Bbx	BBX high mobility group box domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309769	Bbx	BBX high mobility group box domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309770	Adamts15	ADAM metallopeptidase with thrombospondin type 1 motif, 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309770	Adamts15	ADAM metallopeptidase with thrombospondin type 1 motif, 15	gene	DOID:1115	sarcoma		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309770	Adamts15	ADAM metallopeptidase with thrombospondin type 1 motif, 15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309770	Adamts15	ADAM metallopeptidase with thrombospondin type 1 motif, 15	gene	DOID:4362	cervical cancer		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309770	Adamts15	ADAM metallopeptidase with thrombospondin type 1 motif, 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309770	Adamts15	ADAM metallopeptidase with thrombospondin type 1 motif, 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309770	Adamts15	ADAM metallopeptidase with thrombospondin type 1 motif, 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309770	Adamts15	ADAM metallopeptidase with thrombospondin type 1 motif, 15	gene	DOID:9008234	Distal Arthrogryposis Type 12		ISO	RGD:1320284	D	RGD:7240710	20231025	OMIM			
1309770	Adamts15	ADAM metallopeptidase with thrombospondin type 1 motif, 15	gene	DOID:9008234	Distal Arthrogryposis Type 12		ISO	RGD:1320284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 12 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 12	PMID:25741868
1309770	Adamts15	ADAM metallopeptidase with thrombospondin type 1 motif, 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309771	Rpl27a	ribosomal protein L27A	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1320286	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21674502
1309771	Rpl27a	ribosomal protein L27A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309771	Rpl27a	ribosomal protein L27A	gene	DOID:10534	stomach cancer		ISO	RGD:1320286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309771	Rpl27a	ribosomal protein L27A	gene	DOID:12450	pancytopenia		ISO	RGD:1320286	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21674502
1309771	Rpl27a	ribosomal protein L27A	gene	DOID:1324	lung cancer		ISO	RGD:1320286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309771	Rpl27a	ribosomal protein L27A	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1320286	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1309771	Rpl27a	ribosomal protein L27A	gene	DOID:4362	cervical cancer		ISO	RGD:1320286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309771	Rpl27a	ribosomal protein L27A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309771	Rpl27a	ribosomal protein L27A	gene	DOID:9003984	Hyperpigmentation		ISO	RGD:1320286	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21674502
1309771	Rpl27a	ribosomal protein L27A	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1320286	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1309771	Rpl27a	ribosomal protein L27A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309771	Rpl27a	ribosomal protein L27A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309772	Api5	apoptosis inhibitor 5	gene	DOID:4362	cervical cancer	disease_progression	ISO	RGD:1320288	D	RGD:1643340|PMID:10780674	20071231	RGD		mRNA:increased expression	
1309773	Fbxl17	F-box and leucine-rich repeat protein 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309773	Fbxl17	F-box and leucine-rich repeat protein 17	gene	DOID:1324	lung cancer		ISO	RGD:1348950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309773	Fbxl17	F-box and leucine-rich repeat protein 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309773	Fbxl17	F-box and leucine-rich repeat protein 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309773	Fbxl17	F-box and leucine-rich repeat protein 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309773	Fbxl17	F-box and leucine-rich repeat protein 17	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348950	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1309773	Fbxl17	F-box and leucine-rich repeat protein 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309773	Fbxl17	F-box and leucine-rich repeat protein 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:1059	intellectual disability		ISO	RGD:1320291	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:1115	sarcoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:12450	pancytopenia		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:25741868|PMID:28492532
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:1588	thrombocytopenia		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:2355	anemia		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1320291	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:25741868
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:3275	thymoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:25741868
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:4961	bone marrow disease		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:25741868
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dysplasia	PMID:25741868
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:9009112	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5		ISO	RGD:1320291	D	RGD:7240710	20191211	OMIM			
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:9009112	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5		ISO	RGD:1320291	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | ClinVar Annotator: match by term: ZCCHC8-related condition	PMID:25741868|PMID:28492532|PMID:31488579
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320291	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Inherited acute myeloid leukemia	PMID:25741868
1309774	Zcchc8	zinc finger CCHC-type containing 8	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oral mucosa leukoplakia	PMID:25741868
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1320293	D	RGD:11352639|PMID:27259053	20191018	RGD		DNA:mutations: :	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1320293	D	RGD:14975304|PMID:31462075	20191010	RGD		DNA:mutations:	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cystic disease of liver	PMID:25741868|PMID:28492532
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1320293	D	RGD:11352639|PMID:27259053	20191018	RGD		DNA:mutations: :	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:25741868|PMID:27259053
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:0081355	congenital myopathy 22B		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy 22B, severe fetal	PMID:25741868
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:0110860	polycystic kidney disease 3		ISO	RGD:1320293	D	RGD:7240710	20190315	OMIM			
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:0110860	polycystic kidney disease 3		ISO	RGD:1320293	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GANAB-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE | ClinVar Annotator: match by term: Polycystic kidney disease 3 | ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease	PMID:25741868|PMID:27259053|PMID:28492532|PMID:29243290|PMID:30333007|PMID:30792735|PMID:33097077|PMID:33569422|PMID:34357571|PMID:40134995
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:1115	sarcoma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:1324	lung cancer		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:2975	cystic kidney disease		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:3459	breast carcinoma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:27259053
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:630	genetic disease		ISO	RGD:1320293	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30333007
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:784	chronic kidney disease		ISO	RGD:1320293	D	RGD:8554872	20200609	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1320293	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1320293	D	RGD:8554872	20190409	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1320293	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309775	Ganab	glucosidase II alpha subunit	gene	DOID:9351	diabetes mellitus		ISO	RGD:1320293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868
1309776	Il7r	interleukin 7 receptor	gene	DOID:0051062	ischemic stroke		IEP		D	RGD:151347693|PMID:30676545	20220201	RGD		protein:increased expression:cerebral cortex:	
1309776	Il7r	interleukin 7 receptor	gene	DOID:0080600	COVID-19		ISO	RGD:1320295	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309776	Il7r	interleukin 7 receptor	gene	DOID:0090014	severe combined immunodeficiency 104		ISO	RGD:1320295	D	RGD:11554173	20220712	CTD		CTD Direct Evidence: marker/mechanism	
1309776	Il7r	interleukin 7 receptor	gene	DOID:0090014	severe combined immunodeficiency 104		ISO	RGD:1320295	D	RGD:7240710	20250305	OMIM			
1309776	Il7r	interleukin 7 receptor	gene	DOID:0090014	severe combined immunodeficiency 104		ISO	RGD:1320295	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: IL7R-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 104, SEVERE COMBINED | ClinVar Annotator: match by term: Immunodeficiency 104 | ClinVar Annotator: match by term: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	PMID:15661025|PMID:16199547|PMID:16492442|PMID:17201233|PMID:17576681|PMID:17827065|PMID:18442948|PMID:18641513|PMID:19763152|PMID:19890784|PMID:20021794|PMID:20307669|PMID:21184155|PMID:21664875|PMID:22039266|PMID:22406018|PMID:23810098|PMID:24033266|PMID:24578017|PMID:24759676|PMID:25046553|PMID:25255367|PMID:25741868|PMID:26123418|PMID:27593400|PMID:27807805|PMID:27833609|PMID:28492532|PMID:29551298|PMID:30290665|PMID:30778343|PMID:30858051|PMID:31031743|PMID:31379863|PMID:32373116|PMID:32888943|PMID:33040328|PMID:33628209|PMID:34573280|PMID:35418989|PMID:35503492|PMID:38274105|PMID:38587703|PMID:9536098|PMID:9843216
1309776	Il7r	interleukin 7 receptor	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:1320295	D	RGD:151347690|PMID:18687755	20220201	RGD		DNA:SNPs,haplotype:IVS,exon:1560 G>A (rs1389832),33 A>G(rs1494555), 1472 A>C (rs1494556)(human)	
1309776	Il7r	interleukin 7 receptor	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1320295	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21399635
1309776	Il7r	interleukin 7 receptor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:21536738|PMID:35101336
1309776	Il7r	interleukin 7 receptor	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1320295	D	RGD:126779581|PMID:29755661	20220201	RGD		DNA:deletion: :	
1309776	Il7r	interleukin 7 receptor	gene	DOID:2377	multiple sclerosis		ISO	RGD:1320295	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17660530|PMID:17660816|PMID:17660817|PMID:19525955
1309776	Il7r	interleukin 7 receptor	gene	DOID:289	endometriosis		ISO	RGD:1320295	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1309776	Il7r	interleukin 7 receptor	gene	DOID:3275	thymoma		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1309776	Il7r	interleukin 7 receptor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309776	Il7r	interleukin 7 receptor	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1320295	D	RGD:151347686|PMID:21159243	20220201	RGD			
1309776	Il7r	interleukin 7 receptor	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1320295	D	RGD:4142793|PMID:19505916	20220201	RGD		DNA:SNPs:: rs1494555,rs7737000(human)	
1309776	Il7r	interleukin 7 receptor	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1320295	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:21892159
1309776	Il7r	interleukin 7 receptor	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1320295	D	RGD:1600151|PMID:9843216	20070228	RGD		autosomal recessive T cell(-), B cell(+), NK cell(+) severe combined immunodeficiency, OMIM:608971	
1309776	Il7r	interleukin 7 receptor	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1320295	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:15661025|PMID:16199547|PMID:16492442|PMID:17201233|PMID:17827065|PMID:18442948|PMID:18641513|PMID:21664875|PMID:22039266|PMID:23810098|PMID:24578017|PMID:24759676|PMID:25255367|PMID:25741868|PMID:26123418|PMID:27593400|PMID:27833609|PMID:28492532|PMID:32373116|PMID:33084842|PMID:34573280|PMID:35503492|PMID:38274105
1309776	Il7r	interleukin 7 receptor	gene	DOID:630	genetic disease		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309776	Il7r	interleukin 7 receptor	gene	DOID:7474	malignant pleural mesothelioma	disease_progression	ISO	RGD:1320295	D	RGD:151347688|PMID:26155428	20220201	RGD			
1309776	Il7r	interleukin 7 receptor	gene	DOID:8577	ulcerative colitis		ISO	RGD:1320295	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297633
1309776	Il7r	interleukin 7 receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320295	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309776	Il7r	interleukin 7 receptor	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1320295	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21892159
1309776	Il7r	interleukin 7 receptor	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1320295	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	
1309776	Il7r	interleukin 7 receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309776	Il7r	interleukin 7 receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309776	Il7r	interleukin 7 receptor	gene	DOID:9415	allergic asthma		ISO	RGD:1320295	D	RGD:713699936|PMID:26999524	20260513	RGD		mRNA:increased expression:peripheral blood mononuclear cell	
1309776	Il7r	interleukin 7 receptor	gene	DOID:9538	multiple myeloma		ISO	RGD:1320295	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1350138	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:25741868
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:12849	autistic disorder		ISO	RGD:13610798	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autism	PMID:18414213
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:1909	melanoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:303	substance-related disorder		ISO	RGD:1350138	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350138	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309777	Pla2r1	phospholipase A2 receptor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309778	Snx13	sorting nexin 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309778	Snx13	sorting nexin 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309778	Snx13	sorting nexin 13	gene	DOID:10534	stomach cancer		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309778	Snx13	sorting nexin 13	gene	DOID:1115	sarcoma		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309778	Snx13	sorting nexin 13	gene	DOID:1324	lung cancer		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309778	Snx13	sorting nexin 13	gene	DOID:2394	ovarian cancer		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309778	Snx13	sorting nexin 13	gene	DOID:4362	cervical cancer		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309778	Snx13	sorting nexin 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309778	Snx13	sorting nexin 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1320299	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309778	Snx13	sorting nexin 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309778	Snx13	sorting nexin 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309778	Snx13	sorting nexin 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309778	Snx13	sorting nexin 13	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309778	Snx13	sorting nexin 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309778	Snx13	sorting nexin 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309778	Snx13	sorting nexin 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309779	C8h15orf61	similar to human chromosome 15 open reading frame 61	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2302457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309780	Ca1	carbonic anhydrase 1	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1320302	D	RGD:8554872	20191210	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868
1309780	Ca1	carbonic anhydrase 1	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:1320302	D	RGD:408425977|PMID:12806141	20241119	RGD			
1309780	Ca1	carbonic anhydrase 1	gene	DOID:0060180	colitis		IEP		D	RGD:408427353|PMID:31095872	20241122	RGD		protein:decreased expression:urine	
1309780	Ca1	carbonic anhydrase 1	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:1320302	D	RGD:408425976|PMID:26034078	20241119	RGD			
1309780	Ca1	carbonic anhydrase 1	gene	DOID:10316	pneumoconiosis		ISO	RGD:1320302	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
1309780	Ca1	carbonic anhydrase 1	gene	DOID:11394	adult respiratory distress syndrome	disease_progression	ISO	RGD:1320302	D	RGD:632527147|PMID:39161760	20260223	RGD		associated with critical COVID-19;mRNA:decreased expression:peripheral blood mononuclear cell	
1309780	Ca1	carbonic anhydrase 1	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1320302	D	RGD:408425977|PMID:12806141	20241119	RGD			
1309780	Ca1	carbonic anhydrase 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1320302	D	RGD:408425977|PMID:12806141	20241119	RGD			
1309780	Ca1	carbonic anhydrase 1	gene	DOID:1470	major depressive disorder		ISS	RGD:1320303	D	RGD:13592920	20241003	MouseDO		OMIM:608520 | OMIM:608691	
1309780	Ca1	carbonic anhydrase 1	gene	DOID:1884	viral hepatitis		ISO	RGD:1320302	D	RGD:408425977|PMID:12806141	20241119	RGD			
1309780	Ca1	carbonic anhydrase 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1320302	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
1309780	Ca1	carbonic anhydrase 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1320302	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
1309780	Ca1	carbonic anhydrase 1	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1320302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARBONIC ANHYDRASE I DEFICIENCY | ClinVar Annotator: match by term: CARBONIC ANHYDRASE I, GUAM	
1309780	Ca1	carbonic anhydrase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309780	Ca1	carbonic anhydrase 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1320302	D	RGD:408425977|PMID:12806141	20241119	RGD			
1309780	Ca1	carbonic anhydrase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1320302	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696|PMID:19424620
1309780	Ca1	carbonic anhydrase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309780	Ca1	carbonic anhydrase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309780	Ca1	carbonic anhydrase 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1320302	D	RGD:408425977|PMID:12806141	20241119	RGD			
1309781	Fbxo40	F-box protein 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309781	Fbxo40	F-box protein 40	gene	DOID:12849	autistic disorder		ISO	RGD:1320304	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19404257
1309781	Fbxo40	F-box protein 40	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309782	Eed	embryonic ectoderm development	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309782	Eed	embryonic ectoderm development	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320306	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1309782	Eed	embryonic ectoderm development	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868
1309782	Eed	embryonic ectoderm development	gene	DOID:10534	stomach cancer		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309782	Eed	embryonic ectoderm development	gene	DOID:10591	pre-eclampsia		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preeclampsia	PMID:25741868
1309782	Eed	embryonic ectoderm development	gene	DOID:1324	lung cancer		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309782	Eed	embryonic ectoderm development	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:24457600|PMID:25240281|PMID:35101336
1309782	Eed	embryonic ectoderm development	gene	DOID:1612	breast cancer		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1309782	Eed	embryonic ectoderm development	gene	DOID:224	transient cerebral ischemia		IDA		D	RGD:9588303|PMID:24007266	20141024	RGD			
1309782	Eed	embryonic ectoderm development	gene	DOID:3192	neurilemmoma		ISO	RGD:1320306	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25119042
1309782	Eed	embryonic ectoderm development	gene	DOID:4362	cervical cancer		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309782	Eed	embryonic ectoderm development	gene	DOID:5041	esophageal cancer		ISO	RGD:1320306	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309782	Eed	embryonic ectoderm development	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309782	Eed	embryonic ectoderm development	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320306	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309782	Eed	embryonic ectoderm development	gene	DOID:630	genetic disease		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309782	Eed	embryonic ectoderm development	gene	DOID:9001209	Cohen-Gibson Syndrome		ISO	RGD:1320306	D	RGD:7240710	20190315	OMIM			
1309782	Eed	embryonic ectoderm development	gene	DOID:9001209	Cohen-Gibson Syndrome		ISO	RGD:1320306	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COHEN-GIBSON SYNDROME | ClinVar Annotator: match by term: Cohen-Gibson syndrome | ClinVar Annotator: match by term: EED-related condition	PMID:17576681|PMID:25741868|PMID:25787343|PMID:27868325|PMID:28229514|PMID:28475857|PMID:28492532|PMID:30793471|PMID:30858506|PMID:34533271|PMID:37840385|PMID:9536098
1309782	Eed	embryonic ectoderm development	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28475857|PMID:30793471|PMID:30858506|PMID:34533271
1309782	Eed	embryonic ectoderm development	gene	DOID:9003133	Hypertelorism		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1309782	Eed	embryonic ectoderm development	gene	DOID:9004217	Nerve Sheath Neoplasms		ISO	RGD:1320306	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25240281
1309782	Eed	embryonic ectoderm development	gene	DOID:9005120	Pigmented Nevus		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanocytic nevus	PMID:25741868|PMID:28475857|PMID:30793471|PMID:30858506|PMID:34533271
1309782	Eed	embryonic ectoderm development	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28475857|PMID:30793471|PMID:30858506|PMID:34533271
1309782	Eed	embryonic ectoderm development	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1320307	D	RGD:155631277|PMID:18467665	20221031	RGD		mRNA:altered expression:kidney (mouse)	
1309782	Eed	embryonic ectoderm development	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309782	Eed	embryonic ectoderm development	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309782	Eed	embryonic ectoderm development	gene	DOID:9834	hyperopia		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1309783	Potefam1l1	POTE ankyrin domain family member 1 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309783	Potefam1l1	POTE ankyrin domain family member 1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309783	Potefam1l1	POTE ankyrin domain family member 1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309783	Potefam1l1	POTE ankyrin domain family member 1 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1350593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309783	Potefam1l1	POTE ankyrin domain family member 1 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1350593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309783	Potefam1l1	POTE ankyrin domain family member 1 like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309783	Potefam1l1	POTE ankyrin domain family member 1 like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309783	Potefam1l1	POTE ankyrin domain family member 1 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309783	Potefam1l1	POTE ankyrin domain family member 1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309783	Potefam1l1	POTE ankyrin domain family member 1 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309784	Rsl24d1	ribosomal L24 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309784	Rsl24d1	ribosomal L24 domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309784	Rsl24d1	ribosomal L24 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309784	Rsl24d1	ribosomal L24 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309786	Tprkb	Tp53rk binding protein	gene	DOID:0080247	Galloway-Mowat syndrome 5		ISO	RGD:1603050	D	RGD:7240710	20190315	OMIM			
1309786	Tprkb	Tp53rk binding protein	gene	DOID:0080247	Galloway-Mowat syndrome 5		ISO	RGD:1603050	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 5 | ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 | ClinVar Annotator: match by term: TPRKB-related disorder	PMID:25741868|PMID:28492532|PMID:29127259
1309786	Tprkb	Tp53rk binding protein	gene	DOID:0080694	Galloway-Mowat syndrome		ISO	RGD:1603050	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28805828
1309786	Tprkb	Tp53rk binding protein	gene	DOID:3275	thymoma		ISO	RGD:1603050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309786	Tprkb	Tp53rk binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309788	Tesmin	testis expressed metallothionein like protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320315	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309788	Tesmin	testis expressed metallothionein like protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309788	Tesmin	testis expressed metallothionein like protein	gene	DOID:10534	stomach cancer		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309788	Tesmin	testis expressed metallothionein like protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309788	Tesmin	testis expressed metallothionein like protein	gene	DOID:1115	sarcoma		ISO	RGD:1320315	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309788	Tesmin	testis expressed metallothionein like protein	gene	DOID:1909	melanoma		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309788	Tesmin	testis expressed metallothionein like protein	gene	DOID:4362	cervical cancer		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309788	Tesmin	testis expressed metallothionein like protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309788	Tesmin	testis expressed metallothionein like protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1320315	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309788	Tesmin	testis expressed metallothionein like protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309788	Tesmin	testis expressed metallothionein like protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309788	Tesmin	testis expressed metallothionein like protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:0050581	brachydactyly		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:26467025|PMID:28492532
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868|PMID:26467025|PMID:28492532
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:0080415	developmental and epileptic encephalopathy 23		ISO	RGD:1352133	D	RGD:7240710	20140911	OMIM			
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:0080415	developmental and epileptic encephalopathy 23		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 23	PMID:16199547|PMID:17576681|PMID:24814191|PMID:25363768|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30807358|PMID:31175295|PMID:31785789|PMID:33057194|PMID:34561314|PMID:36801247|PMID:37291213|PMID:9536098
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:25741868
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:0111376	fetal akinesia deformation sequence syndrome 3		ISO	RGD:1352133	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3	PMID:25741868
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:10534	stomach cancer		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:1059	intellectual disability		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, profound	PMID:25741868
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:1115	sarcoma		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:1143	exotropia		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:26467025|PMID:28492532
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:11782	astigmatism		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:11830	myopia		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:12849	autistic disorder		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:12859	choreatic disease		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:1324	lung cancer		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:1657	ventricular septal defect		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:1826	epilepsy		ISO	RGD:1352133	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:1826	epilepsy		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:1909	melanoma		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:1969	cerebral palsy		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:26467025|PMID:28492532
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:2030	anxiety disorder		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:2223	platelet storage pool deficiency		ISS	RGD:1320319	D	RGD:13592920	20180518	MouseDO		OMIM:185050	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:2340	craniosynostosis		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:4362	cervical cancer		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1352133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:630	genetic disease		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:9000343	Vision Disorders		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:26467025|PMID:28492532
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352133	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:26467025|PMID:28492532
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1309790	Dock7	dedicator of cytokinesis 7	gene	DOID:9834	hyperopia		ISO	RGD:1352133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1309791	Sh2d7	SH2 domain containing 7	gene	DOID:3275	thymoma		ISO	RGD:2923266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309791	Sh2d7	SH2 domain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2923266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309792	Klhdc10	kelch domain containing 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309792	Klhdc10	kelch domain containing 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309792	Klhdc10	kelch domain containing 10	gene	DOID:1115	sarcoma		ISO	RGD:1602130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309792	Klhdc10	kelch domain containing 10	gene	DOID:1909	melanoma		ISO	RGD:1602130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309792	Klhdc10	kelch domain containing 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309792	Klhdc10	kelch domain containing 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309792	Klhdc10	kelch domain containing 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1602130	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1309792	Klhdc10	kelch domain containing 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309793	Det1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309793	Det1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:1115	sarcoma		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309793	Det1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309793	Det1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309793	Det1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309795	Polq	DNA polymerase theta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309795	Polq	DNA polymerase theta	gene	DOID:0080600	COVID-19		ISO	RGD:1320324	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309795	Polq	DNA polymerase theta	gene	DOID:10534	stomach cancer		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309795	Polq	DNA polymerase theta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309795	Polq	DNA polymerase theta	gene	DOID:1115	sarcoma		ISO	RGD:1320324	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1309795	Polq	DNA polymerase theta	gene	DOID:1324	lung cancer		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309795	Polq	DNA polymerase theta	gene	DOID:1612	breast cancer		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868
1309795	Polq	DNA polymerase theta	gene	DOID:1909	melanoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309795	Polq	DNA polymerase theta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309795	Polq	DNA polymerase theta	gene	DOID:3275	thymoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309795	Polq	DNA polymerase theta	gene	DOID:3307	teratoma		ISO	RGD:1320324	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
1309795	Polq	DNA polymerase theta	gene	DOID:4362	cervical cancer		ISO	RGD:1320324	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1309795	Polq	DNA polymerase theta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309795	Polq	DNA polymerase theta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309795	Polq	DNA polymerase theta	gene	DOID:5041	esophageal cancer		ISO	RGD:1320324	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1309795	Polq	DNA polymerase theta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309795	Polq	DNA polymerase theta	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1320324	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition	PMID:25741868
1309795	Polq	DNA polymerase theta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309795	Polq	DNA polymerase theta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320324	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1309795	Polq	DNA polymerase theta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309795	Polq	DNA polymerase theta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309795	Polq	DNA polymerase theta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309795	Polq	DNA polymerase theta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309796	Dmrta1	DMRT-like family A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309797	Hoxd12	homeo box D12	gene	DOID:0060242	synpolydactyly		ISO	RGD:1320327	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Synpolydactyly	PMID:25741868
1309797	Hoxd12	homeo box D12	gene	DOID:11836	clubfoot		ISO	RGD:1320327	D	RGD:12743594|PMID:16331564	20170208	RGD		DNA:SNP:5' utr:rs847154 (human)	
1309797	Hoxd12	homeo box D12	gene	DOID:1909	melanoma		ISO	RGD:1320327	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778180
1309797	Hoxd12	homeo box D12	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1320327	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8620844|PMID:19108020
1309799	Hdac1	histone deacetylase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309799	Hdac1	histone deacetylase 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1320330	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:28963909
1309799	Hdac1	histone deacetylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309799	Hdac1	histone deacetylase 1	gene	DOID:0051061	stroke		IEP		D	RGD:9590303|PMID:24657831	20141124	RGD			
1309799	Hdac1	histone deacetylase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309799	Hdac1	histone deacetylase 1	gene	DOID:1115	sarcoma		ISO	RGD:1320330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309799	Hdac1	histone deacetylase 1	gene	DOID:114	heart disease		ISO	RGD:1320330	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18625706
1309799	Hdac1	histone deacetylase 1	gene	DOID:12858	Huntington's disease		ISO	RGD:1320331	D	RGD:10402189|PMID:22965876	20151019	RGD		mRNA:increased expression:cerebral cortex	
1309799	Hdac1	histone deacetylase 1	gene	DOID:12858	Huntington's disease		ISO	RGD:1320331	D	RGD:9590098|PMID:22918830	20141112	RGD		protein:increased expression:striatum:	
1309799	Hdac1	histone deacetylase 1	gene	DOID:1324	lung cancer		ISO	RGD:1320330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309799	Hdac1	histone deacetylase 1	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:1320330	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22711276
1309799	Hdac1	histone deacetylase 1	gene	DOID:1686	glaucoma		IEP		D	RGD:155630605|PMID:28990066	20221025	RGD		mRNA:increased expression:optic nerve head (rat)	
1309799	Hdac1	histone deacetylase 1	gene	DOID:1686	glaucoma		ISO	RGD:1320330	D	RGD:155630605|PMID:28990066	20221025	RGD		mRNA:increased expression:optic nerve head (human)	
1309799	Hdac1	histone deacetylase 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1320330	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21527555
1309799	Hdac1	histone deacetylase 1	gene	DOID:1909	melanoma		ISO	RGD:1320330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309799	Hdac1	histone deacetylase 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1320330	D	RGD:9590131|PMID:20037577	20141113	RGD		protein:increased expression:cytoplasm:	
1309799	Hdac1	histone deacetylase 1	gene	DOID:289	endometriosis		ISO	RGD:1320330	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
1309799	Hdac1	histone deacetylase 1	gene	DOID:3213	demyelinating disease		ISO	RGD:1320331	D	RGD:9590131|PMID:20037577	20141113	RGD		protein:increased expression:cytoplasm:	
1309799	Hdac1	histone deacetylase 1	gene	DOID:3275	thymoma		ISO	RGD:1320330	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309799	Hdac1	histone deacetylase 1	gene	DOID:3459	breast carcinoma		ISO	RGD:1320330	D	RGD:2306216|PMID:16172792	20090325	RGD			
1309799	Hdac1	histone deacetylase 1	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:1320330	D	RGD:9588974|PMID:19424621	20141105	RGD		protein:increased expression:pancreas	
1309799	Hdac1	histone deacetylase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309799	Hdac1	histone deacetylase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320330	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309799	Hdac1	histone deacetylase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309799	Hdac1	histone deacetylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309799	Hdac1	histone deacetylase 1	gene	DOID:630	genetic disease		ISO	RGD:1320330	D	RGD:8554872	20180109	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309799	Hdac1	histone deacetylase 1	gene	DOID:6432	pulmonary hypertension		IEP		D	RGD:9590133|PMID:22711276	20141114	RGD		protein:increased expression:lung:	
1309799	Hdac1	histone deacetylase 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1320330	D	RGD:9590133|PMID:22711276	20141114	RGD		protein:increased expression:lung:	
1309799	Hdac1	histone deacetylase 1	gene	DOID:680	tauopathy		ISO	RGD:1320331	D	RGD:9590098|PMID:22918830	20141112	RGD		protein:increased expression:brain:	
1309799	Hdac1	histone deacetylase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309799	Hdac1	histone deacetylase 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1320330	D	RGD:11554173	20200805	CTD		CTD Direct Evidence: marker/mechanism	PMID:32289289
1309799	Hdac1	histone deacetylase 1	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1320330	D	RGD:2306219|PMID:15042618	20090326	RGD		protein:increased expression:prostate gland	
1309799	Hdac1	histone deacetylase 1	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:1320330	D	RGD:2306200|PMID:19147762	20090325	RGD		protein:increased expression:uterine cervix	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9002231	Fetal Growth Retardation		IDA		D	RGD:2311214|PMID:18464933	20140917	RGD			
1309799	Hdac1	histone deacetylase 1	gene	DOID:9002231	Fetal Growth Retardation		IEP		D	RGD:9588242|PMID:16380407	20141023	RGD		protein:decreased expression, decreased activity:hippocampus:	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9002231	Fetal Growth Retardation		IEP		D	RGD:9590296|PMID:24717552	20141124	RGD		mRNA:increased expression:adrenal gland:	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320330	D	RGD:2306214|PMID:18212746	20090325	RGD		protein:increased expression:prostate gland	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320330	D	RGD:2306219|PMID:15042618	20090326	RGD		protein:increased expression:prostate gland	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1320330	D	RGD:2306215|PMID:17387270	20090325	RGD		protein:increased expression:ovary	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1320330	D	RGD:2306205|PMID:18714364	20090325	RGD			
1309799	Hdac1	histone deacetylase 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1320330	D	RGD:2306200|PMID:19147762	20090325	RGD		protein:increased expression:uterine cervix	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9004078	Pancreatic Intraepithelial Neoplasia		ISO	RGD:1320330	D	RGD:9588974|PMID:19424621	20141105	RGD		protein:increased expression:pancreas	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:9590229|PMID:19553350	20141120	RGD		protein:increased activity:renal cortex:	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9006102	Right Ventricular Hypertrophy		IEP		D	RGD:9590133|PMID:22711276	20141114	RGD		protein:increased expression:Right Ventricular:	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9006302	Binge Drinking		IEP		D	RGD:598092506|PMID:30737481	20250321	RGD		protein:decreased expression:hypothalamic microglia	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9007715	Endometrial Neoplasms	disease_progression	ISO	RGD:1320330	D	RGD:2306205|PMID:18714364	20090325	RGD			
1309799	Hdac1	histone deacetylase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1320330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1320330	D	RGD:9590193|PMID:23724067	20141119	RGD		mRNA:increased expression:colon:	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1320331	D	RGD:9590229|PMID:19553350	20141120	RGD		protein:increased activity:kidney:	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1320330	D	RGD:9590127|PMID:22772764	20141113	RGD		protein:increased expression:pancreatic beta cell:	
1309799	Hdac1	histone deacetylase 1	gene	DOID:986	alopecia areata		ISO	RGD:1320330	D	RGD:9587460|PMID:21936853	20141112	RGD		mRNA:increased expression:mononuclear cell:	
1309799	Hdac1	histone deacetylase 1	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:1320330	D	RGD:9681454|PMID:23948281	20141202	RGD		mRNA:increased expression:bone marrow,blood:	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:0060058	lymphoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:1059	intellectual disability		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:31999386
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:1059	intellectual disability		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:10892	hypospadias		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypospadias	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:12849	autistic disorder		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:1324	lung cancer		ISO	RGD:1320334	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:1596	depressive disorder		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:1682	congenital heart disease		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:1826	epilepsy		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:2034	encephalomalacia		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalomalacia	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:2394	ovarian cancer		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:3275	thymoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1320334	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:540	strabismus		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:630	genetic disease		ISO	RGD:1320334	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:9000053	Headache		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:9001031	Retrognathia		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retrognathia	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320334	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:31999386|PMID:37872713
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320334	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: BAZ2B-associated neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental Disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:31999386|PMID:37872713
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:9005616	Micrognathism		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309801	Baz2b	bromodomain adjacent to zinc finger domain, 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309802	Exo5	exonuclease 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309802	Exo5	exonuclease 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:0050851	glomerulosclerosis		IEP		D	RGD:7327155|PMID:24022426	20130912	RGD			
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:0051061	stroke		ISO	RGD:1320337	D	RGD:7327172|PMID:21964580	20130913	RGD		DNA:SNP: : rs10887800 (human)	
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:1063	interstitial nephritis		IEP		D	RGD:7327155|PMID:24022426	20130912	RGD			
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:10763	hypertension		ISO	RGD:1320337	D	RGD:7327172|PMID:21964580	20130913	RGD		associated with Diabetes Mellitus Type 2; DNA:SNPs: : rs2296545,rs2576178 (human)	
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:10763	hypertension		ISO	RGD:1320337	D	RGD:7327173|PMID:21617193	20130913	RGD		associated with kidney Failure,Chronic;DNA:SNPs: : rs2576178, rs10887800 (human)	
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:10763	hypertension		ISO	RGD:1320338	D	RGD:7327174|PMID:21178975	20130913	RGD			
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:10825	essential hypertension		ISO	RGD:1320337	D	RGD:7327177|PMID:17216203	20130913	RGD		DNA:SNPs: :rs2576178, rs2296545,rs2114406 (human)	
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:1115	sarcoma		ISO	RGD:1320337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1320337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:6000	congestive heart failure		IEP		D	RGD:7327162|PMID:21297953	20130913	RGD			
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:783	end stage renal disease		ISO	RGD:1320337	D	RGD:7327153|PMID:15841207	20130912	RGD		protein:decreased expression:plasma:	
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:784	chronic kidney disease		IEP		D	RGD:7327164|PMID:18299506	20130913	RGD		protein, activity:decreased expression:plasma, heart, kidney:	
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320337	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1320337	D	RGD:7327166|PMID:23393318	20130913	RGD			
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1320338	D	RGD:7327166|PMID:23393318	20130913	RGD		mRNA,protein:decreased expression:kidney,plasma:	
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1320337	D	RGD:7327174|PMID:21178975	20130913	RGD			
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1320338	D	RGD:7327174|PMID:21178975	20130913	RGD			
1309804	Rnls	renalase, FAD-dependent amine oxidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1320343	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583980
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	PMID:25741868
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:0080600	COVID-19		ISO	RGD:1320343	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease COVID-19	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:10534	stomach cancer		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1320343	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:1909	melanoma		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1320343	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:20173748|PMID:28166215
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1320343	D	RGD:645135161|PMID:22027142	20260423	RGD		DNA:SNP: :rs2869967	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1320343	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1320343	D	RGD:11535254|PMID:26310313	20260421	RGD		DNA:SNPs: :rs1903003, rs2869967, rs7671167	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1320343	D	RGD:11552597|PMID:25928290	20161012	RGD		DNA:SNP: :rs7671167 (human)	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1320343	D	RGD:632518348|PMID:23299987	20260206	RGD		DNA:SNP: :rs7671167	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1320343	D	RGD:645123325|PMID:29872291	20260421	RGD		DNA:SNP: :rs17014601	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:3275	thymoma		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1320343	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28166215
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:25741868
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:4362	cervical cancer		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1320343	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309807	Fam13a	family with sequence similarity 13, member A	gene	DOID:9256	colorectal cancer		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309809	Pih1d1	PIH1 domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309809	Pih1d1	PIH1 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309809	Pih1d1	PIH1 domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309809	Pih1d1	PIH1 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309809	Pih1d1	PIH1 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309809	Pih1d1	PIH1 domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309809	Pih1d1	PIH1 domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309809	Pih1d1	PIH1 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309809	Pih1d1	PIH1 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309809	Pih1d1	PIH1 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309810	Zfp606	zinc finger protein 606	gene	DOID:10534	stomach cancer		ISO	RGD:1320347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309810	Zfp606	zinc finger protein 606	gene	DOID:1909	melanoma		ISO	RGD:1320347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309810	Zfp606	zinc finger protein 606	gene	DOID:303	substance-related disorder		ISO	RGD:1320347	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1309810	Zfp606	zinc finger protein 606	gene	DOID:4362	cervical cancer		ISO	RGD:1320347	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309810	Zfp606	zinc finger protein 606	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309810	Zfp606	zinc finger protein 606	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309810	Zfp606	zinc finger protein 606	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309811	Marveld1	MARVEL domain containing 1	gene	DOID:0080600	COVID-19		ISO	RGD:1353944	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309811	Marveld1	MARVEL domain containing 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1353944	D	RGD:11554173	20220208	CTD		CTD Direct Evidence: marker/mechanism	PMID:31205918
1309811	Marveld1	MARVEL domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309815	Zfp84	zinc finger protein 84	gene	DOID:5419	schizophrenia		ISO	RGD:1344264	D	RGD:11554173	20230301	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
1309815	Zfp84	zinc finger protein 84	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309815	Zfp84	zinc finger protein 84	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309817	Tmem11	transmembrane protein 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309817	Tmem11	transmembrane protein 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309818	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309818	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309818	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:0112097	nuclear type mitochondrial complex I deficiency 33		ISO	RGD:1320359	D	RGD:7240710	20190315	OMIM			
1309818	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:0112097	nuclear type mitochondrial complex I deficiency 33		ISO	RGD:1320359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 33 | ClinVar Annotator: match by term: NDUFA6-related condition	PMID:25741868|PMID:28492532|PMID:30245030|PMID:30847515|PMID:33233646|PMID:39320038
1309818	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1320359	D	RGD:11572212|PMID:26943237	20181102	RGD		mRNA:increased expression:blood	
1309818	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309818	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:1909	melanoma		ISO	RGD:1320359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309818	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:4362	cervical cancer		ISO	RGD:1320359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309818	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:630	genetic disease		ISO	RGD:1320359	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:30245030|PMID:30847515
1309818	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1320359	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:30245030|PMID:30847515
1309818	Ndufa6	NADH:ubiquinone oxidoreductase subunit A6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309820	Hells	helicase, lymphoid specific	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309820	Hells	helicase, lymphoid specific	gene	DOID:0090011	immunodeficiency-centromeric instability-facial anomalies syndrome 4		ISO	RGD:1346644	D	RGD:7240710	20190315	OMIM			
1309820	Hells	helicase, lymphoid specific	gene	DOID:0090011	immunodeficiency-centromeric instability-facial anomalies syndrome 4		ISO	RGD:1346644	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HELLS-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | ClinVar Annotator: match by term: immunodeficiency-centromeric instability-facial anomalies syndrome 4	PMID:25741868|PMID:26216346|PMID:28492532
1309820	Hells	helicase, lymphoid specific	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1346644	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1309820	Hells	helicase, lymphoid specific	gene	DOID:1909	melanoma		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309820	Hells	helicase, lymphoid specific	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309820	Hells	helicase, lymphoid specific	gene	DOID:3070	high grade glioma	severity	ISO	RGD:1346644	D	RGD:13702468|PMID:28042322	20180718	RGD			
1309820	Hells	helicase, lymphoid specific	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1346644	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1309820	Hells	helicase, lymphoid specific	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309820	Hells	helicase, lymphoid specific	gene	DOID:5041	esophageal cancer		ISO	RGD:1346644	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309820	Hells	helicase, lymphoid specific	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309820	Hells	helicase, lymphoid specific	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309820	Hells	helicase, lymphoid specific	gene	DOID:630	genetic disease		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309820	Hells	helicase, lymphoid specific	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346644	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309820	Hells	helicase, lymphoid specific	gene	DOID:9002644	Premature Aging		ISO	RGD:1616865	D	RGD:10402190|PMID:15105378	20151019	RGD			
1309820	Hells	helicase, lymphoid specific	gene	DOID:9003566	Mesothelioma		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1309820	Hells	helicase, lymphoid specific	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1346644	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1309820	Hells	helicase, lymphoid specific	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309821	Myorg	myogenesis regulating glycosidase	gene	DOID:0060230	basal ganglia calcification		ISS	RGD:1320365	D	RGD:13592920	20241226	MouseDO		OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483	
1309821	Myorg	myogenesis regulating glycosidase	gene	DOID:3275	thymoma		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309821	Myorg	myogenesis regulating glycosidase	gene	DOID:630	genetic disease		ISO	RGD:1320364	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
1309821	Myorg	myogenesis regulating glycosidase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
1309821	Myorg	myogenesis regulating glycosidase	gene	DOID:9001722	Dysarthria		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
1309821	Myorg	myogenesis regulating glycosidase	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
1309821	Myorg	myogenesis regulating glycosidase	gene	DOID:9007487	Idiopathic Basal Ganglia Calcification 7		ISO	RGD:1320364	D	RGD:7240710	20190315	OMIM			
1309821	Myorg	myogenesis regulating glycosidase	gene	DOID:9007487	Idiopathic Basal Ganglia Calcification 7		ISO	RGD:1320364	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition	PMID:25741868|PMID:28492532|PMID:29910000|PMID:30460687|PMID:30589467|PMID:30649222|PMID:31009047|PMID:31440850|PMID:31951047|PMID:32211515
1309821	Myorg	myogenesis regulating glycosidase	gene	DOID:9007546	Idiopathic Basal Ganglia Calcification 1		ISO	RGD:1320364	D	RGD:11554173	20251007	CTD		CTD Direct Evidence: marker/mechanism	
1309821	Myorg	myogenesis regulating glycosidase	gene	DOID:9008023	Memory Disorders		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
1309823	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309823	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309823	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:1115	sarcoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309823	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:1324	lung cancer		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309823	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309823	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309823	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606229	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309823	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309823	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309823	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309823	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309823	Hectd3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309824	Tecta	tectorin alpha	gene	DOID:0110479	autosomal recessive nonsyndromic deafness 21		ISO	RGD:1320369	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309824	Tecta	tectorin alpha	gene	DOID:0110479	autosomal recessive nonsyndromic deafness 21		ISO	RGD:1320369	D	RGD:7240710	20130221	OMIM			
1309824	Tecta	tectorin alpha	gene	DOID:0110544	autosomal dominant nonsyndromic deafness 12		ISO	RGD:1320369	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309824	Tecta	tectorin alpha	gene	DOID:0110544	autosomal dominant nonsyndromic deafness 12		ISO	RGD:1320369	D	RGD:7240710	20130221	OMIM			
1309824	Tecta	tectorin alpha	gene	DOID:0110544	autosomal dominant nonsyndromic deafness 12		ISS	RGD:1320370	D	RGD:13592920	20230718	MouseDO		OMIM:601543	
1309824	Tecta	tectorin alpha	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320369	D	RGD:1599380|PMID:9590290	20070201	RGD		autosomal dominant nonsyndromic sensorineural deafness DFNA12, OMIM:601842 and DFNA8, OMIM:601543	
1309824	Tecta	tectorin alpha	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320369	D	RGD:1599381|PMID:9949200	20070201	RGD		autosomal recessive sensorineural nonsyndromic deafness DFNB21, OMIM:603629	
1309824	Tecta	tectorin alpha	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320369	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:24033266|PMID:24586623|PMID:25741868|PMID:27627659|PMID:28000701|PMID:28492532|PMID:31163360|PMID:31554319|PMID:32853555
1309824	Tecta	tectorin alpha	gene	DOID:9004538	Hearing Loss		ISO	RGD:11607063|RGD:11618191|RGD:11650791|RGD:11654524|RGD:401948000	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	
1309825	Dmpk	DM1 protein kinase	gene	DOID:1115	sarcoma		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309825	Dmpk	DM1 protein kinase	gene	DOID:11722	myotonic dystrophy type 1		ISO	RGD:1320371	D	RGD:1600900|PMID:8595416	20070330	RGD		DNA:trinucleotide expansion:3'UTR	
1309825	Dmpk	DM1 protein kinase	gene	DOID:11722	myotonic dystrophy type 1		ISO	RGD:1320371	D	RGD:7240710	20141112	OMIM			
1309825	Dmpk	DM1 protein kinase	gene	DOID:11722	myotonic dystrophy type 1		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DMPK-related condition | ClinVar Annotator: match by term: Steinert myotonic dystrophy syndrome	PMID:18414213|PMID:25741868
1309825	Dmpk	DM1 protein kinase	gene	DOID:11722	myotonic dystrophy type 1		ISS	RGD:1553318	D	RGD:13592920	20230718	MouseDO		OMIM:160900	
1309825	Dmpk	DM1 protein kinase	gene	DOID:1324	lung cancer		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309825	Dmpk	DM1 protein kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309825	Dmpk	DM1 protein kinase	gene	DOID:450	myotonic disease		ISO	RGD:1320371	D	RGD:11554173	20220705	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039817|PMID:27030674
1309825	Dmpk	DM1 protein kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320371	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309825	Dmpk	DM1 protein kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309825	Dmpk	DM1 protein kinase	gene	DOID:630	genetic disease		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309825	Dmpk	DM1 protein kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309825	Dmpk	DM1 protein kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309825	Dmpk	DM1 protein kinase	gene	DOID:9008993	Myotonia		ISO	RGD:1320371	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039817
1309826	Caps2	calcyphosine 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309826	Caps2	calcyphosine 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309826	Caps2	calcyphosine 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309826	Caps2	calcyphosine 2	gene	DOID:1115	sarcoma		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309826	Caps2	calcyphosine 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320373	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309826	Caps2	calcyphosine 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309826	Caps2	calcyphosine 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309826	Caps2	calcyphosine 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309826	Caps2	calcyphosine 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309828	Irag1	inositol 1,4,5-triphosphate receptor associated 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309828	Irag1	inositol 1,4,5-triphosphate receptor associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309828	Irag1	inositol 1,4,5-triphosphate receptor associated 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309828	Irag1	inositol 1,4,5-triphosphate receptor associated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309828	Irag1	inositol 1,4,5-triphosphate receptor associated 1	gene	DOID:1115	sarcoma		ISO	RGD:1320377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309828	Irag1	inositol 1,4,5-triphosphate receptor associated 1	gene	DOID:3275	thymoma		ISO	RGD:1320377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309828	Irag1	inositol 1,4,5-triphosphate receptor associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309828	Irag1	inositol 1,4,5-triphosphate receptor associated 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309828	Irag1	inositol 1,4,5-triphosphate receptor associated 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320377	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309828	Irag1	inositol 1,4,5-triphosphate receptor associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309828	Irag1	inositol 1,4,5-triphosphate receptor associated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309828	Irag1	inositol 1,4,5-triphosphate receptor associated 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309828	Irag1	inositol 1,4,5-triphosphate receptor associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16199547|PMID:26275793|PMID:28492532|PMID:30473481|PMID:32918965
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603963	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1603963	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: NADH:Q(1) OXIDOREDUCTASE DEFICIENCY	PMID:16199547|PMID:18940309|PMID:21607760|PMID:23536703|PMID:25356970|PMID:25741868|PMID:26275793|PMID:26467025|PMID:28454995|PMID:28492532|PMID:29581464|PMID:30473481|PMID:30581749|PMID:31130284|PMID:32918965|PMID:34177781|PMID:34645488|PMID:34732400|PMID:35094435|PMID:35379322|PMID:35830182|PMID:37718619|PMID:37752895|PMID:39675204
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:0111754	Leber plus disease		ISO	RGD:1603963	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Leber plus disease	PMID:25741868
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:0112096	nuclear type mitochondrial complex I deficiency 16		ISO	RGD:1603963	D	RGD:7240710	20190315	OMIM			
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:0112096	nuclear type mitochondrial complex I deficiency 16		ISO	RGD:1603963	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 16 | ClinVar Annotator: match by term: NDUFAF5-related condition	PMID:16199547|PMID:25741868|PMID:26275793|PMID:27817865|PMID:28492532|PMID:29261183|PMID:29581464|PMID:30473481|PMID:30581749|PMID:32918965|PMID:34177781|PMID:34797029|PMID:34964562|PMID:35379322|PMID:37688338|PMID:37718619
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:10534	stomach cancer		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:1247	blood coagulation disease		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:1324	lung cancer		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:1909	melanoma		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:2355	anemia		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:3652	Leigh disease		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26275793|PMID:28492532|PMID:30473481|PMID:32005694|PMID:32348839|PMID:32918965|PMID:9536098
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:4362	cervical cancer		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:630	genetic disease		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309829	Ndufaf5	NADH:ubiquinone oxidoreductase complex assembly factor 5	gene	DOID:9993	hypoglycemia		ISO	RGD:1603963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
1309830	Limd1	LIM domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309830	Limd1	LIM domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309830	Limd1	LIM domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309830	Limd1	LIM domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309830	Limd1	LIM domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309830	Limd1	LIM domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309830	Limd1	LIM domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:0090065	familial cold autoinflammatory syndrome 4		ISO	RGD:1320383	D	RGD:7240710	20170222	OMIM			
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:0090065	familial cold autoinflammatory syndrome 4		ISO	RGD:1320383	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 | ClinVar Annotator: match by term: NLRC4-related disorder	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24033266|PMID:25217960|PMID:25385754|PMID:25741868|PMID:27203668|PMID:27974463|PMID:28492532|PMID:29778503|PMID:30864118|PMID:33822359|PMID:36797819|PMID:37178069|PMID:9536098
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:0090065	familial cold autoinflammatory syndrome 4		ISS	RGD:1614838	D	RGD:13592920	20240425	MouseDO		OMIM:616115	
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:12450	pancytopenia		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:25741868
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:2841	asthma		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1320383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:25741868|PMID:28492532
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1320383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:24033266|PMID:25741868|PMID:28492532
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:28492532
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:3310	atopic dermatitis		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:28492532
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:4481	allergic rhinitis		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:28492532
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1320383	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:630	genetic disease		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:9002720	Splenomegaly		ISO	RGD:1320383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:9002798	Macrophage Activation Syndrome		ISO	RGD:1320383	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25217959
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:9002805	Enterocolitis		ISO	RGD:1320383	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25217960
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:9006364	Hereditary Autoinflammatory Diseases		ISO	RGD:1320383	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25217959|PMID:25217960
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:9008410	Autoinflammation with Infantile Enterocolitis		ISO	RGD:1320383	D	RGD:7240710	20141126	OMIM			
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:9008410	Autoinflammation with Infantile Enterocolitis		ISO	RGD:1320383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS | ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	PMID:24033266|PMID:25217959|PMID:25217960|PMID:25385754|PMID:25741868|PMID:27203668|PMID:27974463|PMID:28492532|PMID:29326099|PMID:29778503|PMID:30864118|PMID:36797819
1309831	Nlrc4	NLR family, CARD domain containing 4	gene	DOID:9008464	Cryopyrin-Associated Periodic Syndromes		ISO	RGD:1320383	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1309833	Serpinb8	serpin family B member 8	gene	DOID:0060283	peeling skin syndrome		ISO	RGD:1320387	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1309833	Serpinb8	serpin family B member 8	gene	DOID:0070524	peeling skin syndrome 5		ISO	RGD:1320387	D	RGD:7240710	20190315	OMIM			
1309833	Serpinb8	serpin family B member 8	gene	DOID:0070524	peeling skin syndrome 5		ISO	RGD:1320387	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: PEELING SKIN SYNDROME 5 | ClinVar Annotator: match by term: Peeling skin syndrome 5 | ClinVar Annotator: match by term: SERPINB8-related condition	PMID:25741868|PMID:27476651|PMID:28492532
1309833	Serpinb8	serpin family B member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1320387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309833	Serpinb8	serpin family B member 8	gene	DOID:4362	cervical cancer		ISO	RGD:1320387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309833	Serpinb8	serpin family B member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309833	Serpinb8	serpin family B member 8	gene	DOID:8893	psoriasis		ISO	RGD:1320387	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953187
1309833	Serpinb8	serpin family B member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309834	Irx2	iroquois homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309834	Irx2	iroquois homeobox 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309834	Irx2	iroquois homeobox 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309834	Irx2	iroquois homeobox 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309834	Irx2	iroquois homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346652	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309834	Irx2	iroquois homeobox 2	gene	DOID:850	lung disease		ISO	RGD:1346652	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21238641
1309836	Med21	mediator complex subunit 21	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309836	Med21	mediator complex subunit 21	gene	DOID:4362	cervical cancer		ISO	RGD:1320392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309836	Med21	mediator complex subunit 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:0050902	medulloblastoma		ISO	RGD:1320394	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:0111053	platelet-type bleeding disorder 15		ISO	RGD:1320394	D	RGD:8554872	20160421	ClinVar		ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia	PMID:23809206|PMID:26316623
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:0111723	Jacobsen Syndrome		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 11q partial monosomy syndrome	PMID:25741868|PMID:31064749
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:1247	blood coagulation disease		ISO	RGD:1320394	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bleeding and platelet disorders	PMID:28492532
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:14766	renal agenesis		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:25741868
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:1588	thrombocytopenia		ISO	RGD:1320394	D	RGD:1582490|PMID:15232614	20061110	RGD			
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:1588	thrombocytopenia		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:34355501
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:1909	melanoma		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1320394	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11772151|PMID:16646077|PMID:26214589
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:418	systemic scleroderma		ISS	RGD:1320395	D	RGD:13592920	20180518	MouseDO		OMIM:181750	
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1320394	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:630	genetic disease		ISO	RGD:1320394	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320394	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:9003946	Platelet-Type Bleeding Disorder 21		ISO	RGD:1320394	D	RGD:7240710	20190315	OMIM			
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:9003946	Platelet-Type Bleeding Disorder 21		ISO	RGD:1320394	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 21 | ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21 | ClinVar Annotator: match by term: FLI1-related condition	PMID:24100448|PMID:25741868|PMID:28492532|PMID:32581362|PMID:34355501
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:9008421	Epistaxis		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:34355501
1309837	Fli1	Fli-1 proto-oncogene, ETS transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309838	Macc1	MET transcriptional regulator MACC1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309838	Macc1	MET transcriptional regulator MACC1	gene	DOID:0080600	COVID-19		ISO	RGD:1602631	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309838	Macc1	MET transcriptional regulator MACC1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309838	Macc1	MET transcriptional regulator MACC1	gene	DOID:1115	sarcoma		ISO	RGD:1602631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309838	Macc1	MET transcriptional regulator MACC1	gene	DOID:1324	lung cancer		ISO	RGD:1602631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309838	Macc1	MET transcriptional regulator MACC1	gene	DOID:1909	melanoma		ISO	RGD:1602631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309838	Macc1	MET transcriptional regulator MACC1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309838	Macc1	MET transcriptional regulator MACC1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1602631	D	RGD:11554173	20230905	CTD		CTD Direct Evidence: marker/mechanism	PMID:36008464
1309838	Macc1	MET transcriptional regulator MACC1	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:1602631	D	RGD:152995400|PMID:27431311	20220616	RGD		associated with stomach cancer; human cells in mouse model	
1309838	Macc1	MET transcriptional regulator MACC1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309838	Macc1	MET transcriptional regulator MACC1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309840	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309840	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309840	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:0080600	COVID-19		ISO	RGD:1320399	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309840	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:1320399	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309840	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:1320399	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309840	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309840	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309840	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309840	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:5119	ovarian cyst		ISO	RGD:1320399	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
1309840	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309840	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309840	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309840	Fgd2	FYVE, RhoGEF and PH domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25042114|PMID:27589997|PMID:28492532
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:0090112	Nasu-Hakola disease		ISO	RGD:1320401	D	RGD:11554173	20250708	CTD		CTD Direct Evidence: marker/mechanism	
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:0090112	Nasu-Hakola disease		ISO	RGD:1320401	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	PMID:12925681|PMID:15883308|PMID:18546367|PMID:23150934|PMID:23318515|PMID:23870839|PMID:24899047|PMID:24990881|PMID:25615530|PMID:25741868|PMID:25886450|PMID:27995897|PMID:28334938|PMID:28430856|PMID:28492532|PMID:28559417|PMID:28768830|PMID:29557178|PMID:29723869|PMID:30042649|PMID:33732320|PMID:33969597
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:0110049	Alzheimer's disease 17		ISO	RGD:1320401	D	RGD:7240710	20260812	OMIM			
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1320401	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:24663666|PMID:28714976
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:1115	sarcoma		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:1307	dementia		ISO	RGD:1320401	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18546367
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:4166	syphilis		ISO	RGD:1320401	D	RGD:127285386|PMID:32117023	20210618	RGD		associated with age;protein:increased expression:CSF (human)	
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:630	genetic disease		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9001414	Neurosyphilis	disease_progression	ISO	RGD:1320401	D	RGD:127285386|PMID:32117023	20210618	RGD		protein:increased expression:CSF (human)	
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9003895	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2		ISO	RGD:1320401	D	RGD:7240710	20260812	OMIM			
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9003895	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2		ISO	RGD:1320401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 | ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | ClinVar Annotator: match by term: TREM2-related disorder	PMID:12080485|PMID:12754369|PMID:12883936|PMID:12925681|PMID:15883308|PMID:23318515|PMID:23399524|PMID:23582655|PMID:24119542|PMID:25042114|PMID:25186855|PMID:25615530|PMID:25741868|PMID:26021840|PMID:27067662|PMID:27084067|PMID:27520774|PMID:27589997|PMID:27995897|PMID:28334938|PMID:28376694|PMID:28492532|PMID:28768830|PMID:28789839|PMID:29142083|PMID:29557178|PMID:29723869|PMID:30242731|PMID:31217084|PMID:32319261|PMID:32894242|PMID:34663480|PMID:35873773|PMID:3681354
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9007337	Teratogenesis		ISO	RGD:1320401	D	RGD:11554173	20250304	CTD		CTD Direct Evidence: marker/mechanism	PMID:39288838
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:905	Zellweger syndrome		ISO	RGD:1320401	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Zellweger Spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:23582655|PMID:25741868
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9255	frontotemporal dementia		ISS	RGD:1320402	D	RGD:13592920	20180518	MouseDO		OMIM:600274 | OMIM:600795	
1309841	Trem2	triggering receptor expressed on myeloid cells 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1320401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:26021840|PMID:27520774|PMID:28492532|PMID:28789839|PMID:29557178|PMID:32894242|PMID:34663480
1309842	Psmd8	proteasome 26S subunit, non-ATPase 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309842	Psmd8	proteasome 26S subunit, non-ATPase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309842	Psmd8	proteasome 26S subunit, non-ATPase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1320403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309842	Psmd8	proteasome 26S subunit, non-ATPase 8	gene	DOID:3275	thymoma		ISO	RGD:1320403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309842	Psmd8	proteasome 26S subunit, non-ATPase 8	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1320403	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1309842	Psmd8	proteasome 26S subunit, non-ATPase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309842	Psmd8	proteasome 26S subunit, non-ATPase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309842	Psmd8	proteasome 26S subunit, non-ATPase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:0050775	schneckenbecken dysplasia		ISO	RGD:1320404	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:0050775	schneckenbecken dysplasia		ISO	RGD:1320404	D	RGD:7240710	20130221	OMIM			
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:0050775	schneckenbecken dysplasia		ISO	RGD:1320404	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SCHNECKENBECKEN DYSPLASIA | ClinVar Annotator: match by term: SLC35D1-related disorder | ClinVar Annotator: match by term: Schneckenbecken dysplasia	PMID:16199547|PMID:17576681|PMID:17952091|PMID:19508970|PMID:25741868|PMID:28492532|PMID:9536098
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:0050775	schneckenbecken dysplasia		ISS	RGD:1320405	D	RGD:13592920	20230718	MouseDO		OMIM:269250	
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:0110282	autosomal recessive limb-girdle muscular dystrophy type 2H		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcotubular myopathy	PMID:25741868
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:1059	intellectual disability		ISO	RGD:1320404	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:1909	melanoma		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:4362	cervical cancer		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320404	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:630	genetic disease		ISO	RGD:1320404	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:65	connective tissue disease		ISO	RGD:1320404	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320404	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
1309843	Slc35d1	solute carrier family 35 member D1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:0050795	cone dystrophy		ISO	RGD:1320406	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Cone dystrophy	PMID:25741868|PMID:36909829
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:13911	achromatopsia		ISO	RGD:1320406	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Achromatopsia	PMID:10393054|PMID:16199547|PMID:17576681|PMID:18614542|PMID:19887631|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28704108|PMID:30080950|PMID:33001157|PMID:33546218|PMID:9536098
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:13911	achromatopsia		ISS	RGD:1320407	D	RGD:13592920	20180518	MouseDO			
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:4362	cervical cancer		ISO	RGD:1320406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:5041	esophageal cancer		ISO	RGD:1320406	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:5723	optic atrophy		ISO	RGD:1320406	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:630	genetic disease		ISO	RGD:1320406	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:670	amphetamine abuse		ISO	RGD:1320406	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:8501	fundus dystrophy		ISO	RGD:1320406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:19887631|PMID:23776498|PMID:24148654|PMID:25741868|PMID:26103963|PMID:26747767|PMID:28492532|PMID:30080950|PMID:3182623|PMID:31964843|PMID:32531858|PMID:39287548
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:9003656	Achromatopsia 1		ISO	RGD:1320406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rod monochromatism	PMID:25741868|PMID:28492532
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:9007377	Achromatopsia 5		ISO	RGD:1320406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACHROMATOPSIA 5	PMID:16199547|PMID:19615668|PMID:19887631|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30080950|PMID:31964843|PMID:35260635
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1320406	D	RGD:8554872	20220426	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:9008571	Cone Dystrophy 4		ISO	RGD:1320406	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:9008571	Cone Dystrophy 4		ISO	RGD:1320406	D	RGD:7240710	20130221	OMIM			
1309844	Pde6c	phosphodiesterase 6C	gene	DOID:9008571	Cone Dystrophy 4		ISO	RGD:1320406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CONE DYSTROPHY 4 | ClinVar Annotator: match by term: Cone dystrophy 4 | ClinVar Annotator: match by term: PDE6C-related condition	PMID:16199547|PMID:19615668|PMID:19887631|PMID:20301591|PMID:21127010|PMID:23776498|PMID:25326637|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30080950|PMID:31964843|PMID:32913385
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1320408	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:0070179	spermatogenic failure 14		ISO	RGD:1320408	D	RGD:7240710	20140911	OMIM			
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:0070179	spermatogenic failure 14		ISO	RGD:1320408	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 14 | ClinVar Annotator: match by term: ZMYND15-related condition	PMID:25741868|PMID:28492532|PMID:33169450
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:10534	stomach cancer		ISO	RGD:1320408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:12336	male infertility		ISO	RGD:1320408	D	RGD:8554872	20200310	ClinVar		ClinVar Annotator: match by term: Male infertility	
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:1324	lung cancer		ISO	RGD:1320408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:1909	melanoma		ISO	RGD:1320408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:3275	thymoma		ISO	RGD:1320408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:4362	cervical cancer		ISO	RGD:1320408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1320408	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309845	Zmynd15	zinc finger, MYND-type containing 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309846	Chmp4b	charged multivesicular body protein 4B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320409	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309846	Chmp4b	charged multivesicular body protein 4B	gene	DOID:0110265	cataract 31 multiple types		ISO	RGD:1320409	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309846	Chmp4b	charged multivesicular body protein 4B	gene	DOID:0110265	cataract 31 multiple types		ISO	RGD:1320409	D	RGD:7240710	20140312	OMIM			
1309846	Chmp4b	charged multivesicular body protein 4B	gene	DOID:0110265	cataract 31 multiple types		ISO	RGD:1320409	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CATARACT 31, MULTIPLE TYPES | ClinVar Annotator: match by term: Cataract 31 multiple types | ClinVar Annotator: match by term: Cataract, posterior polar, 3	PMID:17701905|PMID:25741868|PMID:28492532
1309846	Chmp4b	charged multivesicular body protein 4B	gene	DOID:10534	stomach cancer		ISO	RGD:1320409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309846	Chmp4b	charged multivesicular body protein 4B	gene	DOID:1324	lung cancer		ISO	RGD:1320409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309846	Chmp4b	charged multivesicular body protein 4B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309846	Chmp4b	charged multivesicular body protein 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1320409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309846	Chmp4b	charged multivesicular body protein 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309848	Tmtc2	transmembrane O-mannosyltransferase targeting cadherins 2	gene	DOID:0080600	COVID-19		ISO	RGD:1605852	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309848	Tmtc2	transmembrane O-mannosyltransferase targeting cadherins 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309848	Tmtc2	transmembrane O-mannosyltransferase targeting cadherins 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309848	Tmtc2	transmembrane O-mannosyltransferase targeting cadherins 2	gene	DOID:1909	melanoma		ISO	RGD:1605852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309848	Tmtc2	transmembrane O-mannosyltransferase targeting cadherins 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309848	Tmtc2	transmembrane O-mannosyltransferase targeting cadherins 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309848	Tmtc2	transmembrane O-mannosyltransferase targeting cadherins 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309848	Tmtc2	transmembrane O-mannosyltransferase targeting cadherins 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309848	Tmtc2	transmembrane O-mannosyltransferase targeting cadherins 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309848	Tmtc2	transmembrane O-mannosyltransferase targeting cadherins 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309848	Tmtc2	transmembrane O-mannosyltransferase targeting cadherins 2	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss	susceptibility	ISO	RGD:1605852	D	RGD:11252147|PMID:27311106	20160627	RGD		DNA:SNP:exon:rs35725509(human)	
1309848	Tmtc2	transmembrane O-mannosyltransferase targeting cadherins 2	gene	DOID:9008681	Deafness		ISO	RGD:1605852	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27311106
1309848	Tmtc2	transmembrane O-mannosyltransferase targeting cadherins 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309848	Tmtc2	transmembrane O-mannosyltransferase targeting cadherins 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309849	Upk1a	uroplakin 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309849	Upk1a	uroplakin 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309849	Upk1a	uroplakin 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate	PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:0060058	lymphoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:0070249	autosomal dominant Emery-Dreifuss muscular dystrophy 4		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant	PMID:25741868|PMID:25790162|PMID:8875242|PMID:9042910
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:0080789	Treacher Collins syndrome 1		ISO	RGD:1320415	D	RGD:7240710	20200708	OMIM			
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:0080789	Treacher Collins syndrome 1		ISO	RGD:1320415	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: TCOF1-related condition | ClinVar Annotator: match by term: TREACHER COLLINS SYNDROME 1 | ClinVar Annotator: match by term: Treacher Collins syndrome 1 | ClinVar Annotator: match by term: Treacher collins syndrome 1	PMID:10982400|PMID:11013442|PMID:12114482|PMID:12444270|PMID:15019983|PMID:15150774|PMID:15214011|PMID:15340364|PMID:15759264|PMID:16199547|PMID:17576681|PMID:20003452|PMID:20301704|PMID:21951868|PMID:22317976|PMID:23967202|PMID:24994558|PMID:25741868|PMID:25790162|PMID:26467025|PMID:28492532|PMID:29230583|PMID:30311386|PMID:31307516|PMID:32909271|PMID:33057194|PMID:33332773|PMID:34515852|PMID:35982159|PMID:37938362|PMID:8875242|PMID:8894686|PMID:9042910|PMID:9096354|PMID:9536098|PMID:9736782|PMID:9811939
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:0110214	cleft soft palate		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft soft palate	PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1320415	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:1909	melanoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:2908	Treacher Collins syndrome		ISO	RGD:1320415	D	RGD:1599379|PMID:9096354	20070201	RGD			
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:2908	Treacher Collins syndrome		ISO	RGD:1320415	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Treacher Collins syndrome | ClinVar Annotator: match by term: Treacher-Collins syndrome	PMID:22317976|PMID:25741868|PMID:28492532|PMID:8894686
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:2908	Treacher Collins syndrome		ISS	RGD:1320416	D	RGD:13592920	20200709	MouseDO		OMIM:154500 | OMIM:248390 | OMIM:613717	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:3275	thymoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320415	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:630	genetic disease		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:33057194|PMID:34515852|PMID:35982159
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:674	cleft palate		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9005700	Airway Obstruction		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Airway obstruction	PMID:25741868
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9008003	Mandibulofacial Dysostosis		ISO	RGD:1320415	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16938878
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9008003	Mandibulofacial Dysostosis		ISO	RGD:1320415	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: TREACHER COLLINS-FRANCESCHETTI SYNDROME	PMID:25741868|PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320415	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16938878
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1309850	Tcof1	treacle ribosome biogenesis factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1309851	Zcrb1	zinc finger CCHC-type and RNA binding motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309851	Zcrb1	zinc finger CCHC-type and RNA binding motif containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309851	Zcrb1	zinc finger CCHC-type and RNA binding motif containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309851	Zcrb1	zinc finger CCHC-type and RNA binding motif containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309851	Zcrb1	zinc finger CCHC-type and RNA binding motif containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309851	Zcrb1	zinc finger CCHC-type and RNA binding motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309851	Zcrb1	zinc finger CCHC-type and RNA binding motif containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:0111474	combined oxidative phosphorylation deficiency 1		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 | ClinVar Annotator: match by term: HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:0111475	combined oxidative phosphorylation deficiency 39		ISO	RGD:1603941	D	RGD:7240710	20190515	OMIM			
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:0111475	combined oxidative phosphorylation deficiency 39		ISO	RGD:1603941	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 39 | ClinVar Annotator: match by term: GFM2-related condition	PMID:17576681|PMID:22700954|PMID:25741868|PMID:28492532|PMID:29075935|PMID:9536098
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:1115	sarcoma		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:11830	myopia		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:1826	epilepsy		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:3652	Leigh disease		ISO	RGD:1603941	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:630	genetic disease		ISO	RGD:1603941	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22700954|PMID:25741868|PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:9007736	Vertigo		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309854	Gfm2	GTP dependent ribosome recycling factor mitochondrial 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309856	Tbx18	T-box transcription factor 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309856	Tbx18	T-box transcription factor 18	gene	DOID:0080207	congenital anomalies of the kidney and urinary tract 2		ISO	RGD:1350500	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309856	Tbx18	T-box transcription factor 18	gene	DOID:0080207	congenital anomalies of the kidney and urinary tract 2		ISO	RGD:1350500	D	RGD:7240710	20151209	OMIM			
1309856	Tbx18	T-box transcription factor 18	gene	DOID:0080207	congenital anomalies of the kidney and urinary tract 2		ISO	RGD:1350500	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: TBX18-related condition	PMID:25741868|PMID:25741890|PMID:26235987|PMID:28492532|PMID:30143558
1309856	Tbx18	T-box transcription factor 18	gene	DOID:1115	sarcoma		ISO	RGD:1350500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309856	Tbx18	T-box transcription factor 18	gene	DOID:1324	lung cancer		ISO	RGD:1350500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309856	Tbx18	T-box transcription factor 18	gene	DOID:1909	melanoma		ISO	RGD:1350500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309856	Tbx18	T-box transcription factor 18	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309856	Tbx18	T-box transcription factor 18	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309856	Tbx18	T-box transcription factor 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309856	Tbx18	T-box transcription factor 18	gene	DOID:630	genetic disease		ISO	RGD:1350500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26235987|PMID:28492532
1309856	Tbx18	T-box transcription factor 18	gene	DOID:9256	colorectal cancer		ISO	RGD:1350500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309857	Snx19	sorting nexin 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309857	Snx19	sorting nexin 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309857	Snx19	sorting nexin 19	gene	DOID:1115	sarcoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309857	Snx19	sorting nexin 19	gene	DOID:1324	lung cancer		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309857	Snx19	sorting nexin 19	gene	DOID:1909	melanoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309857	Snx19	sorting nexin 19	gene	DOID:3275	thymoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309857	Snx19	sorting nexin 19	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309857	Snx19	sorting nexin 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1604682	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309857	Snx19	sorting nexin 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309857	Snx19	sorting nexin 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309857	Snx19	sorting nexin 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309857	Snx19	sorting nexin 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309860	Alpk3	alpha-kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309860	Alpk3	alpha-kinase 3	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic Cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy	PMID:21441111|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:30847666|PMID:34263907
1309860	Alpk3	alpha-kinase 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1344760	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:21441111|PMID:25944380|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:32480058|PMID:33191771|PMID:34263907
1309860	Alpk3	alpha-kinase 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:21441111|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:30847666|PMID:32480058|PMID:34263907|PMID:37477868
1309860	Alpk3	alpha-kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1309860	Alpk3	alpha-kinase 3	gene	DOID:0060319	cardiac arrest		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:25741868|PMID:28492532|PMID:30847666|PMID:32480058
1309860	Alpk3	alpha-kinase 3	gene	DOID:0061102	hypertrophic cardiomyopathy 27		ISO	RGD:1344760	D	RGD:7240710	20190315	OMIM			
1309860	Alpk3	alpha-kinase 3	gene	DOID:0061102	hypertrophic cardiomyopathy 27		ISO	RGD:1344760	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALPK3-related condition | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27 | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic 27	PMID:16199547|PMID:17576681|PMID:21441111|PMID:24033266|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:28991257|PMID:29661763|PMID:30046096|PMID:30192042|PMID:30513141|PMID:30847666|PMID:31074094|PMID:32442321|PMID:32480058|PMID:32746448|PMID:33076350|PMID:33191771|PMID:34263907|PMID:34526680|PMID:37477868|PMID:38356193|PMID:9536098
1309860	Alpk3	alpha-kinase 3	gene	DOID:0110318	hypertrophic cardiomyopathy 12		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12	
1309860	Alpk3	alpha-kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1309860	Alpk3	alpha-kinase 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:21441111|PMID:24033266|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:31880413|PMID:32480058|PMID:33076350|PMID:34263907|PMID:36321451|PMID:37477868|PMID:38356193
1309860	Alpk3	alpha-kinase 3	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1344760	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
1309860	Alpk3	alpha-kinase 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1344760	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:28492532
1309860	Alpk3	alpha-kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:28492532
1309860	Alpk3	alpha-kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309860	Alpk3	alpha-kinase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309860	Alpk3	alpha-kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309860	Alpk3	alpha-kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344760	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:28492532
1309860	Alpk3	alpha-kinase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309860	Alpk3	alpha-kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:21441111|PMID:24033266|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:34263907
1309860	Alpk3	alpha-kinase 3	gene	DOID:6000	congestive heart failure		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:28492532
1309860	Alpk3	alpha-kinase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
1309860	Alpk3	alpha-kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1309860	Alpk3	alpha-kinase 3	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation	PMID:25741868|PMID:28492532|PMID:30847666|PMID:32480058
1309860	Alpk3	alpha-kinase 3	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1344760	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:28492532
1309860	Alpk3	alpha-kinase 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344760	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:21441111|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:29661763|PMID:32480058|PMID:34263907|PMID:37477868
1309860	Alpk3	alpha-kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309860	Alpk3	alpha-kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:28492532
1309862	Pla2g2d	phospholipase A2, group IID	gene	DOID:1909	melanoma		ISO	RGD:1320432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309862	Pla2g2d	phospholipase A2, group IID	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309863	Nsrp1	nuclear speckle splicing regulatory protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309863	Nsrp1	nuclear speckle splicing regulatory protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1604770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309863	Nsrp1	nuclear speckle splicing regulatory protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309863	Nsrp1	nuclear speckle splicing regulatory protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309863	Nsrp1	nuclear speckle splicing regulatory protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309863	Nsrp1	nuclear speckle splicing regulatory protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309863	Nsrp1	nuclear speckle splicing regulatory protein 1	gene	DOID:9005951	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES		ISO	RGD:1604770	D	RGD:7240710	20240327	OMIM			
1309863	Nsrp1	nuclear speckle splicing regulatory protein 1	gene	DOID:9005951	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES		ISO	RGD:1604770	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: NSRP1-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities	PMID:25741868
1309863	Nsrp1	nuclear speckle splicing regulatory protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:10534	stomach cancer		ISO	RGD:1604838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:1059	intellectual disability		ISO	RGD:1604838	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:1324	lung cancer		ISO	RGD:1604838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:1909	melanoma		ISO	RGD:1604838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:3275	thymoma		ISO	RGD:1604838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:4362	cervical cancer		ISO	RGD:1604838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:5041	esophageal cancer		ISO	RGD:1604838	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309866	Zbtb40	zinc finger and BTB domain containing 40	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309868	Ei24	EI24, autophagy associated transmembrane protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320441	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1309869	Lhfpl2	LHFPL tetraspan subfamily member 2	gene	DOID:0080600	COVID-19		ISO	RGD:1320443	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309869	Lhfpl2	LHFPL tetraspan subfamily member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309869	Lhfpl2	LHFPL tetraspan subfamily member 2	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1320443	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
1309869	Lhfpl2	LHFPL tetraspan subfamily member 2	gene	DOID:3275	thymoma		ISO	RGD:1320443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309869	Lhfpl2	LHFPL tetraspan subfamily member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309869	Lhfpl2	LHFPL tetraspan subfamily member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309869	Lhfpl2	LHFPL tetraspan subfamily member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309870	Spmip7	sperm microtubule inner protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2902413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309870	Spmip7	sperm microtubule inner protein 7	gene	DOID:1115	sarcoma		ISO	RGD:2902413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309870	Spmip7	sperm microtubule inner protein 7	gene	DOID:3275	thymoma		ISO	RGD:2902413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309871	Atl3	atlastin GTPase 3	gene	DOID:0070154	hereditary sensory neuropathy type 1F		ISO	RGD:1601766	D	RGD:7240710	20140911	OMIM			
1309871	Atl3	atlastin GTPase 3	gene	DOID:0070154	hereditary sensory neuropathy type 1F		ISO	RGD:1601766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary sensory neuropathy type IF | ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1F	PMID:17576681|PMID:25741868|PMID:28492532|PMID:36856139|PMID:9536098
1309871	Atl3	atlastin GTPase 3	gene	DOID:630	genetic disease		ISO	RGD:1601766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:28492532
1309872	Rexo1	RNA exonuclease 1 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309872	Rexo1	RNA exonuclease 1 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309872	Rexo1	RNA exonuclease 1 homolog	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1320447	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1309872	Rexo1	RNA exonuclease 1 homolog	gene	DOID:1909	melanoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309872	Rexo1	RNA exonuclease 1 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309872	Rexo1	RNA exonuclease 1 homolog	gene	DOID:3275	thymoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309872	Rexo1	RNA exonuclease 1 homolog	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309872	Rexo1	RNA exonuclease 1 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309872	Rexo1	RNA exonuclease 1 homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309872	Rexo1	RNA exonuclease 1 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309872	Rexo1	RNA exonuclease 1 homolog	gene	DOID:6039	uveal melanoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309872	Rexo1	RNA exonuclease 1 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309872	Rexo1	RNA exonuclease 1 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1309873	Mrap2	melanocortin 2 receptor accessory protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1320449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309873	Mrap2	melanocortin 2 receptor accessory protein 2	gene	DOID:1909	melanoma		ISO	RGD:1320449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309873	Mrap2	melanocortin 2 receptor accessory protein 2	gene	DOID:3275	thymoma		ISO	RGD:1320449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309873	Mrap2	melanocortin 2 receptor accessory protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		IEP		D	RGD:15036822|PMID:23507574	20191126	RGD		mRNA, protein:decreased expression:liver,serum	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1320450	D	RGD:15036822|PMID:23507574	20191126	RGD		mRNA:decreased expression:liver	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	disease_progression	ISO	RGD:1320451	D	RGD:15036822|PMID:23507574	20191126	RGD			
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:10591	pre-eclampsia		ISO	RGD:1320450	D	RGD:11554173	20220607	CTD		CTD Direct Evidence: marker/mechanism	PMID:34398343
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:10603	glucose intolerance		ISO	RGD:1320450	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22355640
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:10825	essential hypertension		ISO	RGD:1320450	D	RGD:15036820|PMID:24047472	20191126	RGD		protein:increased expression:serum:	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:11612	polycystic ovary syndrome	treatment	IEP		D	RGD:15036823|PMID:24762064	20191126	RGD			
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:1324	lung cancer		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:2999	granulosa cell tumor		ISO	RGD:1320450	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29653259
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320450	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:9352	type 2 diabetes mellitus		IEP		D	RGD:15036825|PMID:30873215	20191126	RGD		protein:increased expression:multiple:	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:9970	obesity		IEP		D	RGD:15036824|PMID:31284705	20191126	RGD		protein:increased expression:serum:	
1309874	Rarres2	retinoic acid receptor responder 2	gene	DOID:9970	obesity		IEP		D	RGD:15036825|PMID:30873215	20191126	RGD		protein:increased expression:serum:	
1309875	Lig3	DNA ligase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309875	Lig3	DNA ligase 3	gene	DOID:0050842	oculogyric crisis		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oculogyric crisis	PMID:25741868
1309875	Lig3	DNA ligase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309875	Lig3	DNA ligase 3	gene	DOID:0070297	primary microcephaly		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
1309875	Lig3	DNA ligase 3	gene	DOID:0070451	mitochondrial DNA depletion syndrome 20		ISO	RGD:1320452	D	RGD:7240710	20220330	OMIM			
1309875	Lig3	DNA ligase 3	gene	DOID:0070451	mitochondrial DNA depletion syndrome 20		ISO	RGD:1320452	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LIG3-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 20 (mngie type)	PMID:25741868|PMID:33855352
1309875	Lig3	DNA ligase 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1309875	Lig3	DNA ligase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1320452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309875	Lig3	DNA ligase 3	gene	DOID:10907	microcephaly		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1309875	Lig3	DNA ligase 3	gene	DOID:1115	sarcoma		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309875	Lig3	DNA ligase 3	gene	DOID:11156	anhidrosis		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anhidrosis	PMID:25741868
1309875	Lig3	DNA ligase 3	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868
1309875	Lig3	DNA ligase 3	gene	DOID:1793	pancreatic cancer	resistance	ISO	RGD:1320452	D	RGD:2317363|PMID:19147782	20100330	RGD		DNA:SNP:intron:rs 2074522 (human)	
1309875	Lig3	DNA ligase 3	gene	DOID:1909	melanoma		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309875	Lig3	DNA ligase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309875	Lig3	DNA ligase 3	gene	DOID:3275	thymoma		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309875	Lig3	DNA ligase 3	gene	DOID:3525	middle cerebral artery infarction		IEP		D	RGD:2302580|PMID:17412650	20100416	RGD		associated with transient cerebral ischemia;protein:increased expression:brain	
1309875	Lig3	DNA ligase 3	gene	DOID:423	myopathy		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
1309875	Lig3	DNA ligase 3	gene	DOID:630	genetic disease		ISO	RGD:1320452	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309875	Lig3	DNA ligase 3	gene	DOID:83	cataract		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
1309875	Lig3	DNA ligase 3	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1320452	D	RGD:8554872	20141009	ClinVar		ClinVar Annotator: match by term: Arrhythmia	
1309875	Lig3	DNA ligase 3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1309875	Lig3	DNA ligase 3	gene	DOID:9004034	Alacrima		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alacrima	PMID:25741868
1309875	Lig3	DNA ligase 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1309875	Lig3	DNA ligase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309875	Lig3	DNA ligase 3	gene	DOID:9008675	Dyskinesias		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial dyskinesia	PMID:25741868
1309875	Lig3	DNA ligase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309875	Lig3	DNA ligase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309875	Lig3	DNA ligase 3	gene	DOID:936	brain disease		ISO	RGD:1320452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
1309876	Tspan31	tetraspanin 31	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309876	Tspan31	tetraspanin 31	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309876	Tspan31	tetraspanin 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309876	Tspan31	tetraspanin 31	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309876	Tspan31	tetraspanin 31	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309876	Tspan31	tetraspanin 31	gene	DOID:6846	familial melanoma		ISO	RGD:1320454	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098
1309876	Tspan31	tetraspanin 31	gene	DOID:6846	familial melanoma		ISO	RGD:1320454	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098
1309876	Tspan31	tetraspanin 31	gene	DOID:6846	familial melanoma		ISO	RGD:1320454	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:35264596|PMID:9536098
1309876	Tspan31	tetraspanin 31	gene	DOID:6846	familial melanoma		ISO	RGD:1320454	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:35264596|PMID:36095024|PMID:36243179|PMID:9536098
1309876	Tspan31	tetraspanin 31	gene	DOID:6846	familial melanoma		ISO	RGD:1320454	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:34326862|PMID:35264596|PMID:36095024|PMID:36243179|PMID:9536098
1309876	Tspan31	tetraspanin 31	gene	DOID:6846	familial melanoma		ISO	RGD:1320454	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:34326862|PMID:35264596|PMID:36095024|PMID:36243179|PMID:9536098
1309876	Tspan31	tetraspanin 31	gene	DOID:6846	familial melanoma		ISO	RGD:1320454	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:34326862|PMID:35264596|PMID:36095024|PMID:36243179|PMID:38509102|PMID:9536098
1309876	Tspan31	tetraspanin 31	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320454	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:31159747
1309876	Tspan31	tetraspanin 31	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320454	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098
1309876	Tspan31	tetraspanin 31	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320454	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:35264596|PMID:9536098
1309876	Tspan31	tetraspanin 31	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320454	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:35264596|PMID:36095024|PMID:36243179|PMID:9536098
1309876	Tspan31	tetraspanin 31	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320454	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:34326862|PMID:35264596|PMID:36095024|PMID:36243179|PMID:9536098
1309876	Tspan31	tetraspanin 31	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320454	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:34326862|PMID:35264596|PMID:36095024|PMID:36243179|PMID:38509102|PMID:9536098
1309877	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309877	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:1115	sarcoma		ISO	RGD:1320456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309877	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:1909	melanoma		ISO	RGD:1320456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309877	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309877	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309877	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320456	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309877	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309877	Maea	macrophage erythroblast attacher, E3 ubiquitin ligase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1320456	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22158537
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1349063	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Periventricular heterotopia	PMID:25741868|PMID:28492532|PMID:30755392
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:0060238	Van Maldergem syndrome		ISO	RGD:1349063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056717
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1349063	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: DCHS1-related congenital anomalies of the kidney and urinary tract	PMID:25741868|PMID:28492532
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:0080585	Van Maldergem syndrome 1		ISO	RGD:1349063	D	RGD:7240710	20190327	OMIM			
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:0080585	Van Maldergem syndrome 1		ISO	RGD:1349063	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DCHS1-related condition | ClinVar Annotator: match by term: VAN MALDERGEM SYNDROME 1 | ClinVar Annotator: match by term: Van Maldergem syndrome 1	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654|PMID:9536098
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:1059	intellectual disability		ISO	RGD:1349063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28492532
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:10763	hypertension		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertension	PMID:25741868|PMID:28492532
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:1115	sarcoma		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:25741868|PMID:28492532
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:1826	epilepsy		ISO	RGD:1349063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:1909	melanoma		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1349063	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	PMID:28492532|PMID:32381727
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:3275	thymoma		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:4977	lymphedema		ISO	RGD:1349063	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:25741868|PMID:28492532
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:630	genetic disease		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26258302|PMID:28492532|PMID:28518168|PMID:32461654
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:630	genetic disease		ISO	RGD:1349063	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26258302|PMID:28492532|PMID:28518168|PMID:30755392|PMID:32461654
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:9002205	Periventricular Nodular Heterotopia 2		ISO	RGD:1349063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056717
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:9002971	Myxomatous Mitral Valve Prolapse 2		ISO	RGD:1349063	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:9002971	Myxomatous Mitral Valve Prolapse 2		ISO	RGD:1349063	D	RGD:7240710	20151125	OMIM			
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:9002971	Myxomatous Mitral Valve Prolapse 2		ISO	RGD:1349063	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DCHS1-related disorder | ClinVar Annotator: match by term: MITRAL VALVE PROLAPSE 2 | ClinVar Annotator: match by term: MMVP2 | ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 2	PMID:25741868|PMID:28492532
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1349063	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532|PMID:30755392
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349063	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:28518168|PMID:30755392|PMID:32461654
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349063	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:30755392
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1309878	Dchs1	dachsous cadherin-related 1	gene	DOID:988	mitral valve prolapse		ISS	RGD:1616539	D	RGD:13592920	20180518	MouseDO		OMIM:157700 | OMIM:607829 | OMIM:610840	
1309879	Fam89a	family with sequence similarity 89, member A	gene	DOID:0080600	COVID-19		ISO	RGD:1602405	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309879	Fam89a	family with sequence similarity 89, member A	gene	DOID:1324	lung cancer		ISO	RGD:1602405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309879	Fam89a	family with sequence similarity 89, member A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602405	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:0050439	Usher syndrome		ISO	RGD:1320465	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Usher syndrome	PMID:25741868
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1320465	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness	PMID:20440071|PMID:25741868|PMID:26416264|PMID:28492532|PMID:29048736|PMID:30311386|PMID:33105617|PMID:39498320
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1320465	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	PMID:20440071|PMID:25741868|PMID:26416264|PMID:28492532|PMID:29048736|PMID:30311386|PMID:33105617|PMID:39498320
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:1320465	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:1320465	D	RGD:7240710	20130731	OMIM			
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:0110838	Usher syndrome type 2A		ISO	RGD:1320465	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A	PMID:20440071|PMID:24033266|PMID:25741868|PMID:26416264|PMID:28492532|PMID:28802369|PMID:29048736|PMID:30311386|PMID:31454969|PMID:32048449|PMID:33105617|PMID:33724713|PMID:35248088|PMID:39498320
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:0110839	Usher syndrome type 2C		ISO	RGD:1320465	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:0110839	Usher syndrome type 2C		ISO	RGD:1320465	D	RGD:7240710	20130731	OMIM			
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:0110839	Usher syndrome type 2C		ISO	RGD:1320465	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIC | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC | ClinVar Annotator: match by term: Usher syndrome type 2C	PMID:20440071|PMID:24033266|PMID:25741868|PMID:26416264|PMID:28492532|PMID:28802369|PMID:29048736|PMID:30311386|PMID:31454969|PMID:32048449|PMID:33105617|PMID:33724713|PMID:35248088|PMID:39498320
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:0111635	autosomal recessive nonsyndromic deafness 57		ISO	RGD:1320465	D	RGD:7240710	20190315	OMIM			
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:0111635	autosomal recessive nonsyndromic deafness 57		ISO	RGD:1320465	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57 | ClinVar Annotator: match by term: Deafness, autosomal recessive 57	PMID:20440071|PMID:24033266|PMID:25741868|PMID:26416264|PMID:28492532|PMID:28802369|PMID:29048736|PMID:30311386|PMID:30622556|PMID:31454969|PMID:32048449|PMID:33105617|PMID:33724713|PMID:35248088|PMID:39498320
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:10534	stomach cancer		ISO	RGD:1320465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1320465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:12849	autistic disorder		ISO	RGD:1320465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:1324	lung cancer		ISO	RGD:1320465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:1826	epilepsy		ISO	RGD:1320465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:1909	melanoma		ISO	RGD:1320465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1320465	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Wolf-Parkinson-White syndrome	PMID:20440071|PMID:25741868|PMID:26416264|PMID:28492532|PMID:29048736|PMID:30311386|PMID:33105617|PMID:39498320
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1320465	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:630	genetic disease		ISO	RGD:1320465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20440071|PMID:24033266|PMID:25741868|PMID:28492532
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:8501	fundus dystrophy		ISO	RGD:1320465	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:20440071|PMID:25741868|PMID:26849169|PMID:28492532|PMID:30311386|PMID:34387732|PMID:34948090|PMID:36147510
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:9001128	Usher Syndrome Type 2B		ISO	RGD:1320465	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Usher syndrome, type 2B	PMID:20440071|PMID:24033266|PMID:25741868|PMID:26416264|PMID:28492532|PMID:28802369|PMID:29048736|PMID:30311386|PMID:31454969|PMID:32048449|PMID:33105617|PMID:33724713|PMID:35248088|PMID:39498320
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:9004538	Hearing Loss		ISO	RGD:1320465	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:17576681|PMID:20440071|PMID:24033266|PMID:25741868|PMID:26416264|PMID:28492532|PMID:28802369|PMID:29048736|PMID:30311386|PMID:31454969|PMID:32048449|PMID:33105617|PMID:33724713|PMID:35248088|PMID:39498320|PMID:9536098
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
1309882	Pdzd7	PDZ domain containing 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:0060060	non-Hodgkin lymphoma		ISS	RGD:1320467	D	RGD:13592920	20180518	MouseDO		OMIM:605027	
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320466	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1320466	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1320466	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309883	Mtss1	MTSS I-BAR domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309884	Cep57	centrosomal protein 57	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309884	Cep57	centrosomal protein 57	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309884	Cep57	centrosomal protein 57	gene	DOID:0080142	mosaic variegated aneuploidy syndrome 2		ISO	RGD:1602500	D	RGD:7240710	20140911	OMIM			
1309884	Cep57	centrosomal protein 57	gene	DOID:0080142	mosaic variegated aneuploidy syndrome 2		ISO	RGD:1602500	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CEP57-related condition | ClinVar Annotator: match by term: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 | ClinVar Annotator: match by term: mosaic variegated aneuploidy syndrome 2	PMID:16199547|PMID:17576681|PMID:21552266|PMID:24259107|PMID:25741868|PMID:28492532|PMID:30010053|PMID:31943948|PMID:32861809|PMID:9536098
1309884	Cep57	centrosomal protein 57	gene	DOID:0080688	mosaic variegated aneuploidy syndrome		ISO	RGD:1602500	D	RGD:11554173	20221101	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552266|PMID:28553959
1309884	Cep57	centrosomal protein 57	gene	DOID:0080688	mosaic variegated aneuploidy syndrome		ISO	RGD:1602500	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome	
1309884	Cep57	centrosomal protein 57	gene	DOID:10534	stomach cancer		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309884	Cep57	centrosomal protein 57	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309884	Cep57	centrosomal protein 57	gene	DOID:1324	lung cancer		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309884	Cep57	centrosomal protein 57	gene	DOID:5041	esophageal cancer		ISO	RGD:1602500	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309884	Cep57	centrosomal protein 57	gene	DOID:630	genetic disease		ISO	RGD:1602500	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309884	Cep57	centrosomal protein 57	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309884	Cep57	centrosomal protein 57	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309884	Cep57	centrosomal protein 57	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309885	Chodl	chondrolectin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309885	Chodl	chondrolectin	gene	DOID:10534	stomach cancer		ISO	RGD:1320469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309885	Chodl	chondrolectin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309885	Chodl	chondrolectin	gene	DOID:1324	lung cancer		ISO	RGD:1320469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309885	Chodl	chondrolectin	gene	DOID:1909	melanoma		ISO	RGD:1320469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309885	Chodl	chondrolectin	gene	DOID:5041	esophageal cancer		ISO	RGD:1320469	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309885	Chodl	chondrolectin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309885	Chodl	chondrolectin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309886	Tmem79	transmembrane protein 79	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:151720994	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:18585512|PMID:18926329|PMID:28492532
1309886	Tmem79	transmembrane protein 79	gene	DOID:3310	atopic dermatitis		ISS	RGD:1332023	D	RGD:13592920	20180518	MouseDO		OMIM:603165	
1309886	Tmem79	transmembrane protein 79	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309887	Kctd20	potassium channel tetramerization domain containing 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309887	Kctd20	potassium channel tetramerization domain containing 20	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309887	Kctd20	potassium channel tetramerization domain containing 20	gene	DOID:3275	thymoma		ISO	RGD:1320472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309887	Kctd20	potassium channel tetramerization domain containing 20	gene	DOID:4362	cervical cancer		ISO	RGD:1320472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309887	Kctd20	potassium channel tetramerization domain containing 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606789	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:10534	stomach cancer		ISO	RGD:1606789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:1115	sarcoma		ISO	RGD:1606789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:3275	thymoma		ISO	RGD:1606789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:630	genetic disease		ISO	RGD:1606789	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1606789	D	RGD:155882446|PMID:34456727	20230118	RGD			
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:9004088	NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES		ISO	RGD:1606789	D	RGD:7240710	20221221	OMIM			
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:9004088	NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES		ISO	RGD:1606789	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies	
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:9006295	HEART AND BRAIN MALFORMATION SYNDROME		ISO	RGD:1606789	D	RGD:7240710	20190315	OMIM			
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:9006295	HEART AND BRAIN MALFORMATION SYNDROME		ISO	RGD:1606789	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEART AND BRAIN MALFORMATION SYNDROME | ClinVar Annotator: match by term: Heart and brain malformation syndrome	PMID:25741868|PMID:27018474
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309888	Smg9	SMG9 nonsense mediated mRNA decay factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309890	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309890	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:10534	stomach cancer		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309890	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:1115	sarcoma		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309890	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:1909	melanoma		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309890	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:3275	thymoma		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309890	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309890	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309890	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309890	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309890	Arhgef17	Rho guanine nucleotide exchange factor 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309891	Brd7	bromodomain containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309891	Brd7	bromodomain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309891	Brd7	bromodomain containing 7	gene	DOID:0080199	colorectal carcinoma	severity	ISO	RGD:1320478	D	RGD:9586444|PMID:23215825	20141001	RGD		mRNA,protein:decreased expression:colon:	
1309891	Brd7	bromodomain containing 7	gene	DOID:10534	stomach cancer		ISO	RGD:1320478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309891	Brd7	bromodomain containing 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309891	Brd7	bromodomain containing 7	gene	DOID:1324	lung cancer		ISO	RGD:1320478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309891	Brd7	bromodomain containing 7	gene	DOID:2152	ovary epithelial cancer	severity	ISO	RGD:1320478	D	RGD:9586445|PMID:24198243	20141001	RGD		mRNA:decreased expression:ovary	
1309891	Brd7	bromodomain containing 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309891	Brd7	bromodomain containing 7	gene	DOID:3068	glioblastoma		ISO	RGD:1320478	D	RGD:9586441|PMID:24404152	20141001	RGD		protein:increased expression:brain:	
1309891	Brd7	bromodomain containing 7	gene	DOID:3069	malignant astrocytoma	severity	ISO	RGD:1320478	D	RGD:9586441|PMID:24404152	20141001	RGD		protein:increased expression:brain:	
1309891	Brd7	bromodomain containing 7	gene	DOID:3070	high grade glioma		ISO	RGD:1320478	D	RGD:9586441|PMID:24404152	20141001	RGD		protein:increased expression:brain:	
1309891	Brd7	bromodomain containing 7	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1320478	D	RGD:9586442|PMID:22008115	20141001	RGD		protein:increased expression:lung:	
1309891	Brd7	bromodomain containing 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309891	Brd7	bromodomain containing 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309891	Brd7	bromodomain containing 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1320478	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309891	Brd7	bromodomain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309891	Brd7	bromodomain containing 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309891	Brd7	bromodomain containing 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309891	Brd7	bromodomain containing 7	gene	DOID:9000081	Lymphatic Metastasis	severity	ISO	RGD:1320478	D	RGD:9586442|PMID:22008115	20141001	RGD		protein:increased expression:lung:	
1309891	Brd7	bromodomain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309891	Brd7	bromodomain containing 7	gene	DOID:9008863	Malignant Granular Cell Tumor		ISO	RGD:1320478	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: malignant granular cell tumor	
1309891	Brd7	bromodomain containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309891	Brd7	bromodomain containing 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320478	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309891	Brd7	bromodomain containing 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320478	D	RGD:9586443|PMID:18772500	20141001	RGD		mRNA:increased expression:bone marrow:	
1309891	Brd7	bromodomain containing 7	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:1320478	D	RGD:9586443|PMID:18772500	20141001	RGD		DNA:haplotype:cds:737A>G,495C>T(human)	
1309892	Tmem183a	transmembrane protein 183A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309892	Tmem183a	transmembrane protein 183A	gene	DOID:10283	prostate cancer		ISO	RGD:1320480	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309892	Tmem183a	transmembrane protein 183A	gene	DOID:10283	prostate cancer		ISO	RGD:1320480	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309892	Tmem183a	transmembrane protein 183A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309893	Polh	DNA polymerase eta	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1320482	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22745795
1309893	Polh	DNA polymerase eta	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum	PMID:10398605|PMID:11773631|PMID:18368133|PMID:24130121|PMID:25256075|PMID:28492532|PMID:28688171|PMID:31980526
1309893	Polh	DNA polymerase eta	gene	DOID:0050671	female breast cancer	susceptibility	ISO	RGD:1320482	D	RGD:152995259|PMID:30303537	20220609	RGD		DNA:missense mutation:cds: (human)	
1309893	Polh	DNA polymerase eta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309893	Polh	DNA polymerase eta	gene	DOID:0110847	xeroderma pigmentosum variant type		ISO	RGD:1320482	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309893	Polh	DNA polymerase eta	gene	DOID:0110847	xeroderma pigmentosum variant type		ISO	RGD:1320482	D	RGD:7240710	20130221	OMIM			
1309893	Polh	DNA polymerase eta	gene	DOID:0110847	xeroderma pigmentosum variant type		ISO	RGD:1320482	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: POLH-related condition | ClinVar Annotator: match by term: Photosensitivity with defective DNA synthesis | ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, VARIANT TYPE | ClinVar Annotator: match by term: Xeroderma pigmentosum variant type	PMID:10385124|PMID:10398605|PMID:11121129|PMID:11773631|PMID:16199547|PMID:17344931|PMID:18368133|PMID:18703314|PMID:20577208|PMID:24033266|PMID:24130121|PMID:25256075|PMID:25741868|PMID:26884178|PMID:27004399|PMID:27664908|PMID:27982466|PMID:28492532|PMID:32239545|PMID:32265042|PMID:35111200|PMID:38212351
1309893	Polh	DNA polymerase eta	gene	DOID:0110847	xeroderma pigmentosum variant type		ISS	RGD:1320483	D	RGD:13592920	20230718	MouseDO		OMIM:278750	
1309893	Polh	DNA polymerase eta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309893	Polh	DNA polymerase eta	gene	DOID:1115	sarcoma		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309893	Polh	DNA polymerase eta	gene	DOID:1612	breast cancer		ISO	RGD:1320482	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cancer breast	PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524
1309893	Polh	DNA polymerase eta	gene	DOID:1909	melanoma		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309893	Polh	DNA polymerase eta	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma	
1309893	Polh	DNA polymerase eta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309893	Polh	DNA polymerase eta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309893	Polh	DNA polymerase eta	gene	DOID:630	genetic disease		ISO	RGD:1320482	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309893	Polh	DNA polymerase eta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309893	Polh	DNA polymerase eta	gene	DOID:905	Zellweger syndrome		ISO	RGD:1320482	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Zellweger Spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
1309896	Prr12	proline rich 12	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
1309896	Prr12	proline rich 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309896	Prr12	proline rich 12	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868|PMID:29556724|PMID:33824499
1309896	Prr12	proline rich 12	gene	DOID:1059	intellectual disability		ISO	RGD:1320487	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1309896	Prr12	proline rich 12	gene	DOID:10629	microphthalmia		ISO	RGD:1320487	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: complex microphthalmia	PMID:25741868
1309896	Prr12	proline rich 12	gene	DOID:10892	hypospadias		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1309896	Prr12	proline rich 12	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1309896	Prr12	proline rich 12	gene	DOID:1115	sarcoma		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309896	Prr12	proline rich 12	gene	DOID:12849	autistic disorder		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1309896	Prr12	proline rich 12	gene	DOID:1324	lung cancer		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309896	Prr12	proline rich 12	gene	DOID:1826	epilepsy		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1309896	Prr12	proline rich 12	gene	DOID:1909	melanoma		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309896	Prr12	proline rich 12	gene	DOID:3275	thymoma		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309896	Prr12	proline rich 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309896	Prr12	proline rich 12	gene	DOID:4362	cervical cancer		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309896	Prr12	proline rich 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309896	Prr12	proline rich 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309896	Prr12	proline rich 12	gene	DOID:630	genetic disease		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309896	Prr12	proline rich 12	gene	DOID:9001510	Funnel Chest		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1309896	Prr12	proline rich 12	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868
1309896	Prr12	proline rich 12	gene	DOID:9003816	Macrocephaly		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1309896	Prr12	proline rich 12	gene	DOID:9004543	NEUROOCULAR SYNDROME 1		ISO	RGD:1320487	D	RGD:7240710	20211027	OMIM			
1309896	Prr12	proline rich 12	gene	DOID:9004543	NEUROOCULAR SYNDROME 1		ISO	RGD:1320487	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROOCULAR SYNDROME 1 | ClinVar Annotator: match by term: Neuroocular syndrome 1 | ClinVar Annotator: match by term: PRR12-related condition | ClinVar Annotator: match by term: neuroocular syndrome 1	PMID:25741868|PMID:28492532|PMID:33824499
1309896	Prr12	proline rich 12	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1309896	Prr12	proline rich 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309896	Prr12	proline rich 12	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1309896	Prr12	proline rich 12	gene	DOID:9008582	Developmental Disease		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1309896	Prr12	proline rich 12	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	
1309896	Prr12	proline rich 12	gene	DOID:9009291	Neuroocular syndrome		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroocular syndrome	PMID:25741868|PMID:29758562|PMID:33824499
1309896	Prr12	proline rich 12	gene	DOID:9993	hypoglycemia		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	
1309898	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309898	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309898	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309898	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309898	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:1324	lung cancer		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309898	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309898	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309898	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309898	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309898	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309898	Bdh2	3-hydroxybutyrate dehydrogenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1604606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309899	Rad23a	RAD23 nucleotide excision repair protein A	gene	DOID:10534	stomach cancer		ISO	RGD:1320493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309899	Rad23a	RAD23 nucleotide excision repair protein A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309899	Rad23a	RAD23 nucleotide excision repair protein A	gene	DOID:1115	sarcoma		ISO	RGD:1320493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309899	Rad23a	RAD23 nucleotide excision repair protein A	gene	DOID:1909	melanoma		ISO	RGD:1320493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309899	Rad23a	RAD23 nucleotide excision repair protein A	gene	DOID:3275	thymoma		ISO	RGD:1320493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309899	Rad23a	RAD23 nucleotide excision repair protein A	gene	DOID:4362	cervical cancer		ISO	RGD:1320493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309899	Rad23a	RAD23 nucleotide excision repair protein A	gene	DOID:5041	esophageal cancer		ISO	RGD:1320493	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309899	Rad23a	RAD23 nucleotide excision repair protein A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1320493	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1309899	Rad23a	RAD23 nucleotide excision repair protein A	gene	DOID:9000918	Disease Progression		ISO	RGD:1320493	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1309899	Rad23a	RAD23 nucleotide excision repair protein A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309899	Rad23a	RAD23 nucleotide excision repair protein A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:0060891	Parkinson's disease 19A		ISO	RGD:1320495	D	RGD:7240710	20160928	OMIM			
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:0060891	Parkinson's disease 19A		ISO	RGD:1320495	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Juvenile onset Parkinson disease 19A | ClinVar Annotator: match by term: PARK19 | ClinVar Annotator: match by term: PARKINSON DISEASE 19A, JUVENILE-ONSET | ClinVar Annotator: match by term: PARKINSON DISEASE 19B, EARLY-ONSET | ClinVar Annotator: match by term: Parkinson disease 19a, juvenile-onset	PMID:16199547|PMID:17576681|PMID:2256350|PMID:22563501|PMID:23211418|PMID:25640679|PMID:25741868|PMID:26528954|PMID:26703368|PMID:28191889|PMID:28492532|PMID:31737044|PMID:32214227|PMID:32472658|PMID:32613234|PMID:32662538|PMID:32707456|PMID:34948429|PMID:35861376|PMID:9536098
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:10283	prostate cancer		ISO	RGD:1320495	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:22563501|PMID:23211418|PMID:26528954|PMID:28492532
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:10534	stomach cancer		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:1059	intellectual disability		ISO	RGD:1320495	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:1324	lung cancer		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:14330	Parkinson's disease		ISO	RGD:1320495	D	RGD:10450521|PMID:25639775	20160115	RGD			
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:1909	melanoma		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:5041	esophageal cancer		ISO	RGD:1320495	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:630	genetic disease		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26528954|PMID:28492532|PMID:31737044|PMID:34948429
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320495	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309900	Dnajc6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1309901	Rccd1	RCC1 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309901	Rccd1	RCC1 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1605899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309901	Rccd1	RCC1 domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1605899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309901	Rccd1	RCC1 domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309901	Rccd1	RCC1 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309901	Rccd1	RCC1 domain containing 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605899	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1309902	Dixdc1	DIX domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309902	Dixdc1	DIX domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309902	Dixdc1	DIX domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1320498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309902	Dixdc1	DIX domain containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320498	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:27752079
1309902	Dixdc1	DIX domain containing 1	gene	DOID:1596	depressive disorder		ISO	RGD:1320498	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:27752079
1309902	Dixdc1	DIX domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1320498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309902	Dixdc1	DIX domain containing 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1320498	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:27752079
1309902	Dixdc1	DIX domain containing 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1320498	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:27752079
1309902	Dixdc1	DIX domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309902	Dixdc1	DIX domain containing 1	gene	DOID:5419	schizophrenia		ISO	RGD:1320498	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:27752079
1309902	Dixdc1	DIX domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309902	Dixdc1	DIX domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309902	Dixdc1	DIX domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309902	Dixdc1	DIX domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309902	Dixdc1	DIX domain containing 1	gene	DOID:9970	obesity		ISO	RGD:1320498	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Obesity	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1320499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1320499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:1909	melanoma		ISO	RGD:1320499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:3070	high grade glioma		ISO	RGD:1320499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:3275	thymoma		ISO	RGD:1320499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1320499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320499	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320499	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:543	dystonia		ISO	RGD:1320499	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:33098801
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320499	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309903	Arfgef3	ARFGEF family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309906	Adprm	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	gene	DOID:10534	stomach cancer		ISO	RGD:1604325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309906	Adprm	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309906	Adprm	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	gene	DOID:4362	cervical cancer		ISO	RGD:1604325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309907	Sypl2	synaptophysin-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309907	Sypl2	synaptophysin-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1603517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309907	Sypl2	synaptophysin-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1320507	D	RGD:9835346|PMID:18551404	20150318	RGD		mRNA:increased expression:bone marrow, mononuclear cells (human)	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1320507	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22614916
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:10534	stomach cancer		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:1115	sarcoma		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1320507	D	RGD:9835343|PMID:24642466	20150318	RGD		mRNA:increased expression:renal glomerulus (human)	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:1793	pancreatic cancer		ISO	RGD:1320507	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22614916
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:1793	pancreatic cancer		ISO	RGD:1320507	D	RGD:9835037|PMID:16424023	20150317	RGD		mRNA:decreased expression:pancreas (human)	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:1909	melanoma		ISO	RGD:1320507	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19147557|PMID:22614916
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:1909	melanoma		ISO	RGD:1320507	D	RGD:9835344|PMID:19147557	20150318	RGD		protein:decreased expression:epidermal melanocyte (human)	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:3275	thymoma		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:3312	bipolar disorder		ISO	RGD:1320507	D	RGD:5490162|PMID:16687443	20150318	RGD		mRNA, protein:increased expression:dorsolateral prefrontal cortex (human)	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1320507	D	RGD:9835342|PMID:19066305	20150318	RGD		protein:decreased expression:thyroid gland (human)	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:4362	cervical cancer		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1320507	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:9000918	Disease Progression		ISO	RGD:1320507	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22614916
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1320507	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22614916
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1320507	D	RGD:9835038|PMID:17646383	20150317	RGD		protein:decreased expression:thyroid gland (human)	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309908	Rap1gap	Rap1 GTPase-activating protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1320507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309910	Vwce	von Willebrand factor C and EGF domains	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309910	Vwce	von Willebrand factor C and EGF domains	gene	DOID:1115	sarcoma		ISO	RGD:1602968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309910	Vwce	von Willebrand factor C and EGF domains	gene	DOID:11394	adult respiratory distress syndrome	disease_progression	ISO	RGD:1602968	D	RGD:632527147|PMID:39161760	20260223	RGD		associated with critical COVID-19;mRNA:altered expression:peripheral blood mononuclear cell	
1309910	Vwce	von Willebrand factor C and EGF domains	gene	DOID:1909	melanoma		ISO	RGD:1602968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309910	Vwce	von Willebrand factor C and EGF domains	gene	DOID:4362	cervical cancer		ISO	RGD:1602968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309910	Vwce	von Willebrand factor C and EGF domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309910	Vwce	von Willebrand factor C and EGF domains	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309910	Vwce	von Willebrand factor C and EGF domains	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309910	Vwce	von Willebrand factor C and EGF domains	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309910	Vwce	von Willebrand factor C and EGF domains	gene	DOID:9007661	Dwarfism		ISO	RGD:1602968	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1309910	Vwce	von Willebrand factor C and EGF domains	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309911	Anxa11	annexin A11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1309911	Anxa11	annexin A11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1309911	Anxa11	annexin A11	gene	DOID:0080225	amyotrophic lateral sclerosis type 23		ISO	RGD:1320510	D	RGD:7240710	20190315	OMIM			
1309911	Anxa11	annexin A11	gene	DOID:0080225	amyotrophic lateral sclerosis type 23		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 23 | ClinVar Annotator: match by term: ANXA11-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 23 | ClinVar Annotator: match by term: amyotrophic lateral sclerosis type 23	PMID:16199547|PMID:25741868|PMID:28469040|PMID:28492532|PMID:28889094|PMID:29650794|PMID:29845112|PMID:30109997|PMID:33087501|PMID:33218681|PMID:34275688|PMID:35047667|PMID:36226077|PMID:36280108|PMID:37712079|PMID:37952009|PMID:38896345
1309911	Anxa11	annexin A11	gene	DOID:0080225	amyotrophic lateral sclerosis type 23		ISS	RGD:1553345	D	RGD:13592920	20250925	MouseDO		OMIM:617839	
1309911	Anxa11	annexin A11	gene	DOID:0081121	inclusion body myopathy and brain white matter abnormalities		ISO	RGD:1320510	D	RGD:7240710	20220323	OMIM			
1309911	Anxa11	annexin A11	gene	DOID:0081121	inclusion body myopathy and brain white matter abnormalities		ISO	RGD:1320510	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES | ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 6	PMID:25741868|PMID:28469040|PMID:28492532|PMID:29845112|PMID:33087501|PMID:34048612
1309911	Anxa11	annexin A11	gene	DOID:10534	stomach cancer		ISO	RGD:1320510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309911	Anxa11	annexin A11	gene	DOID:1115	sarcoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1309911	Anxa11	annexin A11	gene	DOID:11335	sarcoidosis		ISO	RGD:1320510	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19165924
1309911	Anxa11	annexin A11	gene	DOID:1909	melanoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309911	Anxa11	annexin A11	gene	DOID:3275	thymoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1309911	Anxa11	annexin A11	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:3409905|PMID:34099057|PMID:9536098
1309911	Anxa11	annexin A11	gene	DOID:4362	cervical cancer		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1309911	Anxa11	annexin A11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1309911	Anxa11	annexin A11	gene	DOID:5041	esophageal cancer		ISO	RGD:1320510	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309911	Anxa11	annexin A11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309911	Anxa11	annexin A11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1309911	Anxa11	annexin A11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1309911	Anxa11	annexin A11	gene	DOID:630	genetic disease		ISO	RGD:1320510	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28469040|PMID:28492532|PMID:29650794|PMID:33087501
1309911	Anxa11	annexin A11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1309911	Anxa11	annexin A11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1309911	Anxa11	annexin A11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
1309911	Anxa11	annexin A11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:182	calcinosis		ISO	RGD:1320511	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1320511	D	RGD:11055351|PMID:26025597	20260313	RGD		associated with lung disease;mRNA:decreased expression:blood	
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1320511	D	RGD:640476625|PMID:30970080	20260313	RGD		protein:increased expression:neutrophil	
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:2957	pulmonary tuberculosis	disease_progression	ISO	RGD:1320511	D	RGD:640476623|PMID:29764370	20260313	RGD			
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:4079	heart valve disease		ISO	RGD:1320511	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:552	pneumonia	disease_progression	ISO	RGD:1320511	D	RGD:640476626|PMID:27240938	20260313	RGD			
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1320511	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1320511	D	RGD:9685708|PMID:16670289	20150121	RGD		protein:increased expression:synovial joint:	
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:8466	retinal degeneration		IEP		D	RGD:152025547|PMID:29713904	20230525	RGD		associated with hyperaldosterone; mRNA:decreased expression:retina (rat)	
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320511	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:9002211	Hyperalgesia	ameliorates	IMP		D	RGD:127338469|PMID:32510872	20210707	RGD			
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:9002457	Experimental Arthritis		IEP		D	RGD:127338469|PMID:32510872	20210707	RGD		protein:increased expression:dorsal root ganglion	
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:10573	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12875993
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1320511	D	RGD:9685708|PMID:16670289	20150121	RGD			
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:9004610	Acute Lung Injury		IMP		D	RGD:5147925|PMID:19106808	20120322	RGD			
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:9004745	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES		IEP		D	RGD:152025547|PMID:29713904	20230525	RGD		associated with hyperaldosterone; mRNA:decreased expression:retina (rat)	
1309912	Fcgr1a	Fc gamma receptor 1A	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:1320511	D	RGD:9685699|PMID:22402584	20150121	RGD			
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1320513	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:1909	melanoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:3275	thymoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1320513	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309914	Trpc4ap	transient receptor potential cation channel, subfamily C, member 4 associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:0050581	brachydactyly		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:0050591	tooth agenesis		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth agenesis	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:0050887	Townes-Brocks syndrome		ISO	RGD:1320515	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9425907|PMID:16088922
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:0050887	Townes-Brocks syndrome		ISO	RGD:1320515	D	RGD:7240710	20130221	OMIM			
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:0050887	Townes-Brocks syndrome		ISO	RGD:1320515	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: REAR SYNDROME | ClinVar Annotator: match by term: Renal-ear-anal-radial syndrome | ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: TOWNES-BROCKS SYNDROME | ClinVar Annotator: match by term: TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1	PMID:10533063|PMID:10819639|PMID:11102974|PMID:12915476|PMID:14627694|PMID:14755477|PMID:16088922|PMID:16429401|PMID:16971658|PMID:17221874|PMID:17576681|PMID:18000979|PMID:19005989|PMID:19429598|PMID:20301618|PMID:22308078|PMID:23069192|PMID:23894113|PMID:24429398|PMID:25741868|PMID:25741886|PMID:26380986|PMID:26467025|PMID:26489027|PMID:27073431|PMID:27657687|PMID:28492532|PMID:29395072|PMID:29758562|PMID:30311386|PMID:30655312|PMID:32656166|PMID:34906515|PMID:36362878|PMID:36549658|PMID:38296632|PMID:40658219|PMID:9536098|PMID:9973281
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:0050887	Townes-Brocks syndrome		ISS	RGD:1320516	D	RGD:13592920	20230718	MouseDO		OMIM:107480	
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:0111766	X-linked VACTERL association		ISO	RGD:1320515	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: VACTERL-H	PMID:24429398|PMID:25741868|PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:10488	imperforate anus		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1320515	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:11193	syndactyly		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:14766	renal agenesis		ISO	RGD:1320516	D	RGD:155641230|PMID:11688560	20221102	RGD			
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:2810	middle lobe syndrome		ISO	RGD:1320515	D	RGD:1599551|PMID:16088922	20070207	RGD		Townes-Brocks syndrome, OMIM:602218	
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:2810	middle lobe syndrome		ISO	RGD:1320515	D	RGD:1599553|PMID:11102974	20070207	RGD		Townes-Brocks syndrome, OMIM:602218	
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:4667	kyphosis		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:5176	renal Wilms' tumor		ISO	RGD:1320515	D	RGD:155631277|PMID:18467665	20221031	RGD		human tumor in mouse model	
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:630	genetic disease		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12915476|PMID:16088922|PMID:23069192|PMID:25741868|PMID:28492532|PMID:9973281
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:687	hepatoblastoma		ISO	RGD:1320515	D	RGD:11556217|PMID:23822878	20161128	RGD		embryonal subtype;protein:increased expression:liver, nucleus (human)	
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:1320515	D	RGD:155631310|PMID:33298161	20221101	RGD		human cells in rat model	
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9000101	Rectovaginal Fistula		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rectovaginal fistula	PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9001425	Triphalangeal Thumb		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Triphalangeal thumb	PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9001581	Constipation		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9002589	Bone Fractures		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9004452	Townes-Brocks-Branchiootorenal-Like Syndrome		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME	PMID:14755477|PMID:16088922|PMID:23069192|PMID:28492532|PMID:9973281
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9004994	Embryo Loss		ISO	RGD:1320516	D	RGD:155641230|PMID:11688560	20221102	RGD			
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:1320515	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20127799
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1320515	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9425907|PMID:16088922
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1320515	D	RGD:1599551|PMID:16088922	20070207	RGD		Townes-Brocks syndrome, OMIM:602218	
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1320515	D	RGD:1599553|PMID:11102974	20070207	RGD		Townes-Brocks syndrome, OMIM:602218	
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:28492532
1309916	Sall1	spalt-like transcription factor 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:28492532
1309917	Ell3	elongation factor for RNA polymerase II 3	gene	DOID:0060058	lymphoma		ISO	RGD:1320517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309917	Ell3	elongation factor for RNA polymerase II 3	gene	DOID:1324	lung cancer		ISO	RGD:1320517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309917	Ell3	elongation factor for RNA polymerase II 3	gene	DOID:1909	melanoma		ISO	RGD:1320517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309917	Ell3	elongation factor for RNA polymerase II 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309917	Ell3	elongation factor for RNA polymerase II 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309917	Ell3	elongation factor for RNA polymerase II 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320517	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309917	Ell3	elongation factor for RNA polymerase II 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309918	Rnaset2	ribonuclease T2	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:1320518	D	RGD:153002831|PMID:27014725	20220720	RGD		human cells in mouse model	
1309918	Rnaset2	ribonuclease T2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309918	Rnaset2	ribonuclease T2	gene	DOID:0081007	RNASET2-deficient cystic leukoencephalopathy		ISO	RGD:1320518	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309918	Rnaset2	ribonuclease T2	gene	DOID:0081007	RNASET2-deficient cystic leukoencephalopathy		ISO	RGD:1320518	D	RGD:7240710	20130619	OMIM			
1309918	Rnaset2	ribonuclease T2	gene	DOID:0081007	RNASET2-deficient cystic leukoencephalopathy		ISO	RGD:1320518	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cystic leukoencephalopathy without megalencephaly | ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY | ClinVar Annotator: match by term: Leukoencephalopathy, cystic, without megalencephaly | ClinVar Annotator: match by term: RNASET2-related condition	PMID:19525954|PMID:25044680|PMID:25741868|PMID:27943079|PMID:28492532|PMID:28924877|PMID:29336640
1309918	Rnaset2	ribonuclease T2	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:1320518	D	RGD:153297765|PMID:28218421	20220721	RGD		DNA:mutations:cds: (human)	
1309918	Rnaset2	ribonuclease T2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309918	Rnaset2	ribonuclease T2	gene	DOID:12361	Graves' disease		ISO	RGD:1320518	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21841780
1309918	Rnaset2	ribonuclease T2	gene	DOID:1324	lung cancer		ISO	RGD:1320518	D	RGD:153297750|PMID:29193083	20220721	RGD		DNA:SNP:intergenic:rs444210 (human)	
1309918	Rnaset2	ribonuclease T2	gene	DOID:1324	lung cancer		ISO	RGD:1320518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309918	Rnaset2	ribonuclease T2	gene	DOID:1909	melanoma		ISO	RGD:1320518	D	RGD:153002831|PMID:27014725	20220720	RGD		human cells in mouse model	
1309918	Rnaset2	ribonuclease T2	gene	DOID:1909	melanoma		ISO	RGD:1320518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309918	Rnaset2	ribonuclease T2	gene	DOID:219	colon cancer		ISO	RGD:1320519	D	RGD:153002804|PMID:32197460	20220720	RGD			
1309918	Rnaset2	ribonuclease T2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320518	D	RGD:153002829|PMID:30842415	20220720	RGD		human cells in mouse model	
1309918	Rnaset2	ribonuclease T2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309918	Rnaset2	ribonuclease T2	gene	DOID:3717	gastric adenocarcinoma	disease_progression	ISO	RGD:1320518	D	RGD:153002801|PMID:32528897	20220720	RGD		mRNA, protein:decreased expression:stomach (human)	
1309918	Rnaset2	ribonuclease T2	gene	DOID:3883	Lynch syndrome		ISO	RGD:1320518	D	RGD:153297765|PMID:28218421	20220721	RGD		DNA:mutations:cds: (human)	
1309918	Rnaset2	ribonuclease T2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309918	Rnaset2	ribonuclease T2	gene	DOID:4362	cervical cancer		ISO	RGD:1320518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309918	Rnaset2	ribonuclease T2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320518	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309918	Rnaset2	ribonuclease T2	gene	DOID:5410	pulmonary neuroendocrine tumor		ISO	RGD:1320518	D	RGD:153002569|PMID:29763721	20220719	RGD		mRNA:increased expression:lung (human)	
1309918	Rnaset2	ribonuclease T2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309918	Rnaset2	ribonuclease T2	gene	DOID:630	genetic disease		ISO	RGD:1320518	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309918	Rnaset2	ribonuclease T2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309918	Rnaset2	ribonuclease T2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1320518	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28604730
1309918	Rnaset2	ribonuclease T2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309918	Rnaset2	ribonuclease T2	gene	DOID:9256	colorectal cancer		ISO	RGD:1320518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309918	Rnaset2	ribonuclease T2	gene	DOID:936	brain disease		ISO	RGD:1320518	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19525954
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:10283	prostate cancer		ISO	RGD:1320520	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:10283	prostate cancer		ISO	RGD:1320520	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:1909	melanoma		ISO	RGD:1320520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:3070	high grade glioma		ISO	RGD:1320520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:4362	cervical cancer		ISO	RGD:1320520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1320520	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1320520	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309919	Cops6	COP9 signalosome subunit 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1320520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309920	Mrpl49	mitochondrial ribosomal protein L49	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309920	Mrpl49	mitochondrial ribosomal protein L49	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309920	Mrpl49	mitochondrial ribosomal protein L49	gene	DOID:1115	sarcoma		ISO	RGD:1320522	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309920	Mrpl49	mitochondrial ribosomal protein L49	gene	DOID:1324	lung cancer		ISO	RGD:1320522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer, somatic	
1309920	Mrpl49	mitochondrial ribosomal protein L49	gene	DOID:1909	melanoma		ISO	RGD:1320522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1309920	Mrpl49	mitochondrial ribosomal protein L49	gene	DOID:3275	thymoma		ISO	RGD:1320522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309920	Mrpl49	mitochondrial ribosomal protein L49	gene	DOID:5041	esophageal cancer		ISO	RGD:1320522	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309920	Mrpl49	mitochondrial ribosomal protein L49	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309920	Mrpl49	mitochondrial ribosomal protein L49	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309920	Mrpl49	mitochondrial ribosomal protein L49	gene	DOID:9003326	Perrault Syndrome 1		ISO	RGD:1320522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian dysgenesis with sensorineural deafness	PMID:25741868
1309920	Mrpl49	mitochondrial ribosomal protein L49	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309920	Mrpl49	mitochondrial ribosomal protein L49	gene	DOID:9009341	Combined Oxidative Phosphorylation Deficiency 60		ISO	RGD:1320522	D	RGD:7240710	20250529	OMIM			
1309920	Mrpl49	mitochondrial ribosomal protein L49	gene	DOID:9009341	Combined Oxidative Phosphorylation Deficiency 60		ISO	RGD:1320522	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 60 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 60	PMID:25741868|PMID:39417135
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1320524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29255176|PMID:30165862|PMID:30847666|PMID:31513939|PMID:32481709|PMID:32815737|PMID:32880476|PMID:35026164|PMID:37089884|PMID:39472908|PMID:39681577
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:0110319	hypertrophic cardiomyopathy 13		ISO	RGD:1320524	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:0110319	hypertrophic cardiomyopathy 13		ISO	RGD:1320524	D	RGD:7240710	20130425	OMIM			
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:0110319	hypertrophic cardiomyopathy 13		ISO	RGD:1320524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 13	PMID:17576681|PMID:18572189|PMID:22815480|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27650965|PMID:28492532|PMID:28533433|PMID:28750076|PMID:28798025|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29517769|PMID:30165862|PMID:30188508|PMID:30384889|PMID:30453078|PMID:30847666|PMID:31513939|PMID:31983221|PMID:32013205|PMID:32481709|PMID:32815737|PMID:32880476|PMID:33552729|PMID:33658040|PMID:34935411|PMID:35026164|PMID:36178741|PMID:37089884|PMID:37652022|PMID:38382684|PMID:39472908|PMID:39681577|PMID:9536098
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:0110319	hypertrophic cardiomyopathy 13		ISS	RGD:1553347	D	RGD:13592920	20230718	MouseDO		OMIM:613243	
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:0110434	dilated cardiomyopathy 1Z		ISO	RGD:1320524	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:0110434	dilated cardiomyopathy 1Z		ISO	RGD:1320524	D	RGD:7240710	20130425	OMIM			
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:0110434	dilated cardiomyopathy 1Z		ISO	RGD:1320524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1Z | ClinVar Annotator: match by term: Dilated cardiomyopathy 1Z | ClinVar Annotator: match by term: TNNC1-related condition	PMID:16199547|PMID:17576681|PMID:18572189|PMID:19439414|PMID:20458010|PMID:20459070|PMID:21056975|PMID:21262074|PMID:21832052|PMID:22815480|PMID:24033266|PMID:24558114|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26899768|PMID:27574918|PMID:27650965|PMID:28492532|PMID:28533433|PMID:28750076|PMID:28771489|PMID:28798025|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29517769|PMID:30165862|PMID:30188508|PMID:30453078|PMID:30847666|PMID:31513939|PMID:31918855|PMID:31983221|PMID:32013205|PMID:32481709|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33019804|PMID:33552729|PMID:33658040|PMID:34935411|PMID:35026164|PMID:36178741|PMID:36252119|PMID:37089884|PMID:37652022|PMID:39472908|PMID:39681577|PMID:9536098
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:0110454	dilated cardiomyopathy 1S		ISO	RGD:1320524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1S	PMID:25741868|PMID:28492532|PMID:28798025|PMID:29253866|PMID:30847666|PMID:33552729|PMID:34935411
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1320524	D	RGD:1580739|PMID:11385718	19990101	RGD			
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1320524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25351510|PMID:25741868|PMID:28492532|PMID:29255176|PMID:30165862|PMID:30847666|PMID:31513939|PMID:32481709|PMID:32815737|PMID:32880476|PMID:37089884|PMID:37904158|PMID:39472908
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:3275	thymoma		ISO	RGD:1320524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32880476|PMID:9536098
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1320524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	
1309921	Tnnc1	troponin C1, slow skeletal and cardiac type	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1320524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25351510|PMID:25741868|PMID:28492532|PMID:29255176|PMID:30165862|PMID:30847666|PMID:31513939|PMID:32481709|PMID:32815737|PMID:32880476|PMID:37089884|PMID:39472908
1309922	Ccar2	cell cycle and apoptosis regulator 2	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:1605357	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24252177
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320527	D	RGD:11099981|PMID:25363760	20160609	RGD		DNA:mutations:multiple (human)	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:0060135	apraxia		ISO	RGD:1320527	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27120335
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1320527	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:31474318
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1320527	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:0080600	COVID-19		ISO	RGD:1320527	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:35255492
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:10534	stomach cancer		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:1059	intellectual disability		ISO	RGD:1320527	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:10923	sickle cell anemia	severity	ISO	RGD:1320527	D	RGD:11099970|PMID:18667698	20160609	RGD		DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:10923	sickle cell anemia	severity	ISO	RGD:1320528	D	RGD:11099996|PMID:21998251	20160610	RGD			
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:10923	sickle cell anemia	treatment	ISO	RGD:1320527	D	RGD:11100007|PMID:22360576	20160613	RGD			
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1320527	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:12241	beta thalassemia		ISO	RGD:1320527	D	RGD:11100005|PMID:22258351	20160613	RGD		DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:12241	beta thalassemia	severity	ISO	RGD:1320527	D	RGD:11099969|PMID:23541515	20160609	RGD		DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human)	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:12241	beta thalassemia	severity	ISO	RGD:1320527	D	RGD:11100008|PMID:25751242	20160613	RGD		DNA:snp:intron:c.386-17267T>C (rs10189857) (human)	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:12241	beta thalassemia	treatment	ISO	RGD:1320527	D	RGD:11100011|PMID:25574177	20160613	RGD			
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:1324	lung cancer		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:2030	anxiety disorder		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:2786	cerebellar disease		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cerebellar syndrome	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1320527	D	RGD:11099968|PMID:23758992	20160609	RGD		mRNA, protein:increased expression:lung (human)	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:4362	cervical cancer		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:5041	esophageal cancer		ISO	RGD:1320527	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:5419	schizophrenia		ISO	RGD:1320527	D	RGD:11099977|PMID:25938782	20160609	RGD		DNA:snps:multiple (human)	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:630	genetic disease		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22542183|PMID:25418537|PMID:25741868
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1320527	D	RGD:11100004|PMID:11719382	20160613	RGD		DNA:translocation:5' utr: (human)	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1320527	D	RGD:8554872	20200609	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:25741868
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1320527	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320527	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1320527	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27120335
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1320527	D	RGD:8554872	20191015	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9006994	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN		ISO	RGD:1320527	D	RGD:7240710	20190315	OMIM			
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9006994	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN		ISO	RGD:1320527	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BCL11A-related condition | ClinVar Annotator: match by term: BCL11A-related intellectual disability | ClinVar Annotator: match by term: Dias-Logan syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN | ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin	PMID:22542183|PMID:25418537|PMID:25741868|PMID:27453576|PMID:28492532|PMID:28891213|PMID:29758562|PMID:31474318|PMID:33116287
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9007573	Flatfoot		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9007661	Dwarfism		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12196208|PMID:25741868|PMID:25741869|PMID:29985992
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9008582	Developmental Disease		ISO	RGD:1320527	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1309923	Bcl11a	BCL11 transcription factor A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:0070375	developmental and epileptic encephalopathy 64		ISO	RGD:1320529	D	RGD:7240710	20190315	OMIM			
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:0070375	developmental and epileptic encephalopathy 64		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | ClinVar Annotator: match by term: RHOBTB2-related condition	PMID:18298893|PMID:229276004|PMID:25741868|PMID:26740508|PMID:28492532|PMID:28518168|PMID:28856709|PMID:29276004|PMID:29768694|PMID:32461654|PMID:37165955|PMID:37489029
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:1320529	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:1320529	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:12849	autistic disorder		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18298893|PMID:25741868|PMID:28492532|PMID:28856709|PMID:29276004|PMID:29768694|PMID:31780880|PMID:37165955|PMID:37489029
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1320529	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1320529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:37165955
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:18835386|PMID:25741868|PMID:28492532|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32581362|PMID:32810689|PMID:33504645|PMID:39831600
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
1309924	Rhobtb2	Rho-related BTB domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309925	Dsg1	desmoglein 1	gene	DOID:0014667	disease of metabolism		ISO	RGD:1320531	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23974871
1309925	Dsg1	desmoglein 1	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1320531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	
1309925	Dsg1	desmoglein 1	gene	DOID:0081108	keratosis palmoplantaris striata 1		ISO	RGD:1320531	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309925	Dsg1	desmoglein 1	gene	DOID:0081108	keratosis palmoplantaris striata 1		ISO	RGD:1320531	D	RGD:1598781|PMID:10332028	20061219	RGD		DNA:snp:intron:IVS2-1G>A (human)	
1309925	Dsg1	desmoglein 1	gene	DOID:0081108	keratosis palmoplantaris striata 1		ISO	RGD:1320531	D	RGD:7240710	20130221	OMIM			
1309925	Dsg1	desmoglein 1	gene	DOID:0081108	keratosis palmoplantaris striata 1		ISO	RGD:1320531	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DSG1-related condition | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA I, STRIATE | ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse | ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA I	PMID:17576681|PMID:19018793|PMID:19558595|PMID:23974871|PMID:25741868|PMID:27534273|PMID:27632246|PMID:28492532|PMID:29604126|PMID:31130284|PMID:31443639|PMID:9536098
1309925	Dsg1	desmoglein 1	gene	DOID:1205	allergic disease		ISO	RGD:1320531	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23974871
1309925	Dsg1	desmoglein 1	gene	DOID:2723	dermatitis		ISO	RGD:1320531	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23974871
1309925	Dsg1	desmoglein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309925	Dsg1	desmoglein 1	gene	DOID:630	genetic disease		ISO	RGD:1320531	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309925	Dsg1	desmoglein 1	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:1320531	D	RGD:6480655|PMID:21382035	20120329	RGD		mRNA:decreased expression:gingival tissues (human)	
1309925	Dsg1	desmoglein 1	gene	DOID:9002223	Diffuse Palmoplantar Keratoderma		ISO	RGD:1320531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse palmoplantar hyperkeratosis	PMID:25741868
1309925	Dsg1	desmoglein 1	gene	DOID:9004009	Reperfusion Injury		IEP		D	RGD:2316254|PMID:19500802	20100202	RGD		protein:decreased expression:lung	
1309925	Dsg1	desmoglein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309925	Dsg1	desmoglein 1	gene	DOID:9007380	Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE		ISO	RGD:1320531	D	RGD:7240710	20140911	OMIM			
1309925	Dsg1	desmoglein 1	gene	DOID:9007380	Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE		ISO	RGD:1320531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	PMID:19018793|PMID:23974871|PMID:25741868|PMID:27534273|PMID:27632246|PMID:28492532|PMID:29604126
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:0080006	bone development disease		ISO	RGD:1349978	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:19669234
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:0080600	COVID-19		ISO	RGD:1349978	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:0111789	Frank-Ter Haar syndrome		ISO	RGD:1349978	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:0111789	Frank-Ter Haar syndrome		ISO	RGD:1349978	D	RGD:7240710	20130731	OMIM			
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:0111789	Frank-Ter Haar syndrome		ISO	RGD:1349978	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Borrone Di Rocco Crovato syndrome | ClinVar Annotator: match by term: Borrone di Rocco Crovato syndrome | ClinVar Annotator: match by term: FRANK-TER HAAR SYNDROME | ClinVar Annotator: match by term: Frank Ter Haar syndrome | ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: Frank-ter Haar syndrome | ClinVar Annotator: match by term: SH3PXD2B-related condition	PMID:20137777|PMID:22509100|PMID:22829589|PMID:23140272|PMID:25741868|PMID:26183326|PMID:28492532|PMID:31931872|PMID:31978614
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:0111789	Frank-Ter Haar syndrome		ISS	RGD:1320533	D	RGD:13592920	20260319	MouseDO		OMIM:249420	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:10754	otitis media		ISS	RGD:1320533	D	RGD:13592920	20180518	MouseDO		OMIM:166760	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:1115	sarcoma		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:1324	lung cancer		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:1349978	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:28719234
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:1686	glaucoma		ISS	RGD:1320533	D	RGD:13592920	20190307	MouseDO			
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:1909	melanoma		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:2394	ovarian cancer		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:3275	thymoma		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1349978	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:630	genetic disease		ISO	RGD:1349978	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29620724|PMID:35205281
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349978	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:19669234
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1349978	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:28719234
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:9006257	Growth Disorders		ISO	RGD:1349978	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:19669234
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1349978	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:19669234
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1349978	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:19669234
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309926	Sh3pxd2b	SH3 and PX domains 2B	gene	DOID:9282	ocular hypertension		ISO	RGD:1349978	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:28719234
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0050562	West syndrome		ISO	RGD:1320534	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive	PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0050562	West syndrome		ISO	RGD:1320534	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive | ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome	PMID:16199547|PMID:24456803|PMID:25411445|PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30362252|PMID:30853297|PMID:31216405|PMID:35792847|PMID:36537114|PMID:38374194
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320534	D	RGD:8554872	20161011	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0060313	tracheomalacia		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:16199547|PMID:24456803|PMID:25411445|PMID:25741868|PMID:28492532|PMID:31216405|PMID:36537114
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0060320	inguinal hernia		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:16199547|PMID:24456803|PMID:25411445|PMID:25741868|PMID:28492532|PMID:31216405|PMID:36537114
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0060321	umbilical hernia		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:16199547|PMID:24456803|PMID:25411445|PMID:25741868|PMID:28492532|PMID:31216405|PMID:36537114
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0080060	autosomal recessive spinocerebellar ataxia 12		ISO	RGD:1320534	D	RGD:7240710	20140903	OMIM			
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0080060	autosomal recessive spinocerebellar ataxia 12		ISO	RGD:1320534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12	PMID:11572989|PMID:16199547|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24369382|PMID:24456803|PMID:25403906|PMID:25411445|PMID:25558065|PMID:25612104|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26467025|PMID:27495153|PMID:27569545|PMID:27717089|PMID:27848944|PMID:27884173|PMID:28130116|PMID:28492532|PMID:29358611|PMID:29390993|PMID:29675105|PMID:29808465|PMID:29852413|PMID:29905011|PMID:30356099|PMID:30746283|PMID:30853297|PMID:30919572|PMID:31216405|PMID:31618474|PMID:31780880|PMID:35573960|PMID:35701389|PMID:35792847|PMID:36537114|PMID:38374194|PMID:40875931|PMID:9536098
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0080060	autosomal recessive spinocerebellar ataxia 12		ISS	RGD:1320535	D	RGD:13592920	20231102	MouseDO		OMIM:614322	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0080452	developmental and epileptic encephalopathy 28		ISO	RGD:1320534	D	RGD:7240710	20170329	OMIM			
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0080452	developmental and epileptic encephalopathy 28		ISO	RGD:1320534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28	PMID:11572989|PMID:16199547|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24456803|PMID:25411445|PMID:25558065|PMID:25612104|PMID:25741868|PMID:26467025|PMID:27717089|PMID:27884173|PMID:28492532|PMID:29358611|PMID:29675105|PMID:29808465|PMID:29852413|PMID:29905011|PMID:30356099|PMID:30853297|PMID:30919572|PMID:31216405|PMID:31618474|PMID:31690835|PMID:31780880|PMID:32037574|PMID:35573960|PMID:35792847|PMID:36537114|PMID:38374194|PMID:40875931|PMID:9536098
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1320534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome	PMID:11572989|PMID:16199547|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24456803|PMID:25411445|PMID:25558065|PMID:25612104|PMID:25741868|PMID:26077850|PMID:26467025|PMID:27495153|PMID:27717089|PMID:27848944|PMID:27884173|PMID:28492532|PMID:29358611|PMID:29675105|PMID:29808465|PMID:29852413|PMID:29905011|PMID:30356099|PMID:30853297|PMID:30919572|PMID:31216405|PMID:31618474|PMID:31780880|PMID:35573960|PMID:35792847|PMID:36537114|PMID:38374194|PMID:40875931|PMID:9536098
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:0110064	amelogenesis imperfecta type 1H		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:10534	stomach cancer		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1059	intellectual disability		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:30356099|PMID:30919572|PMID:40875931
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1320534	D	RGD:11554173	20190409	CTD		CTD Direct Evidence: marker/mechanism	PMID:30820047
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:10907	microcephaly		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:30356099|PMID:30919572|PMID:40875931
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28492532
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1115	sarcoma		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:11830	myopia		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:11836	clubfoot		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:16199547|PMID:24456803|PMID:25411445|PMID:25741868|PMID:28492532|PMID:31216405|PMID:36537114
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1596	depressive disorder		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1612	breast cancer		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868|PMID:28492532
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1320534	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17575124
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1320534	D	RGD:1599874|PMID:11956080	20070220	RGD		esophageal squamous cell carcinoma, OMIM:133239	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1826	epilepsy		IAGP		D	RGD:150429974|PMID:18676360	20211021	RGD		compared to wild type and heterozygotes	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1826	epilepsy		IAGP		D	RGD:150429978|PMID:17803050	20211021	RGD		compared to wild type and heterozygotes	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1826	epilepsy		IAGP		D	RGD:150429979|PMID:19500159	20211008	RGD		DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1826	epilepsy		ISO	RGD:1320534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:16199547|PMID:24456803|PMID:25411445|PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297|PMID:30919572|PMID:31216405|PMID:35792847|PMID:36537114|PMID:38374194|PMID:40875931
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1320534	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:24456803|PMID:25411445|PMID:25741868|PMID:27848944|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297|PMID:31623504|PMID:31690835|PMID:35792847|PMID:36537114|PMID:38374194
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1320534	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297|PMID:35792847|PMID:36537114|PMID:38374194
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1891	optic nerve disease		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:16199547|PMID:24456803|PMID:25411445|PMID:25741868|PMID:28492532|PMID:31216405|PMID:36537114
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:1923	disorder of sexual development		ISO	RGD:1320534	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Disorder of sexual differentiation	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:2030	anxiety disorder		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:2841	asthma		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1320534	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:25526675
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1320534	D	RGD:1599874|PMID:11956080	20070220	RGD		esophageal squamous cell carcinoma, OMIM:133239	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1320534	D	RGD:7240710	20240207	OMIM			
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1320534	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC | ClinVar Annotator: match by term: Esophageal squamous cell carcinoma	PMID:16199547|PMID:24456803|PMID:25411445|PMID:25558065|PMID:25741868|PMID:27717089|PMID:28492532|PMID:29852413
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:16199547|PMID:24456803|PMID:25411445|PMID:27848944|PMID:28492532|PMID:30746283
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:4362	cervical cancer		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:5041	esophageal cancer		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal cancer | ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24456803|PMID:25411445|PMID:25741868|PMID:28492532|PMID:29358611|PMID:35573960
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:5041	esophageal cancer		ISO	RGD:1320534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Esophageal cancer | ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24456803|PMID:25411445|PMID:25741868|PMID:28492532|PMID:29358611|PMID:29808465|PMID:30356099|PMID:30853297|PMID:35573960|PMID:35792847|PMID:36537114|PMID:38374194
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:5419	schizophrenia		ISO	RGD:1320534	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:543	dystonia		ISO	RGD:1320534	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297|PMID:35792847|PMID:36537114|PMID:38374194
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1320534	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:630	genetic disease		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1320534	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1320534	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1320534	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297|PMID:35792847|PMID:36537114|PMID:38374194
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1320534	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17575124
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1320534	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297|PMID:35792847|PMID:36537114|PMID:38374194
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1320534	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9002563	Gait Ataxia		IAGP		D	RGD:150429978|PMID:17803050	20211021	RGD		compared to wild type and heterozygotes	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9003507	Premature Birth		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: neurodevelopmental disorders	PMID:16199547|PMID:24456803|PMID:25411445|PMID:25741868|PMID:28492532|PMID:31216405|PMID:36537114
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9004643	Urologic Neoplasms		ISO	RGD:1320534	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23618899
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:30356099|PMID:30919572|PMID:40875931
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1320534	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297|PMID:35792847|PMID:36537114|PMID:38374194
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9007661	Dwarfism		IAGP		D	RGD:150429974|PMID:18676360	20211021	RGD		compared to wild type and heterozygotes	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9007661	Dwarfism		IAGP		D	RGD:150429978|PMID:17803050	20211021	RGD		compared to wild type and heterozygotes	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9007661	Dwarfism		IAGP		D	RGD:150429979|PMID:19500159	20211008	RGD		DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9007722	Myoclonus		ISO	RGD:1320534	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297|PMID:35792847|PMID:36537114|PMID:38374194
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9008023	Memory Disorders		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320534	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental Delay | ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:24456803|PMID:25411445|PMID:25558065|PMID:25741868|PMID:27717089|PMID:28492532|PMID:29852413|PMID:36937954
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1320534	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17200365
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309927	Wwox	WW domain-containing oxidoreductase	gene	DOID:9834	hyperopia		ISO	RGD:1320534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1309928	Aven	apoptosis and caspase activation inhibitor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309928	Aven	apoptosis and caspase activation inhibitor	gene	DOID:1115	sarcoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309928	Aven	apoptosis and caspase activation inhibitor	gene	DOID:1827	generalized epilepsy		ISO	RGD:13464400|RGD:13475427|RGD:13504397|RGD:13813829|RGD:150455722|RGD:15141971	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalised epilepsy	PMID:25741868|PMID:28492532
1309928	Aven	apoptosis and caspase activation inhibitor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309928	Aven	apoptosis and caspase activation inhibitor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309928	Aven	apoptosis and caspase activation inhibitor	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1320536	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427
1309928	Aven	apoptosis and caspase activation inhibitor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309928	Aven	apoptosis and caspase activation inhibitor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309928	Aven	apoptosis and caspase activation inhibitor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309928	Aven	apoptosis and caspase activation inhibitor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309928	Aven	apoptosis and caspase activation inhibitor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309929	Memo1	mediator of cell motility 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309929	Memo1	mediator of cell motility 1	gene	DOID:1324	lung cancer		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309929	Memo1	mediator of cell motility 1	gene	DOID:1909	melanoma		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309929	Memo1	mediator of cell motility 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309929	Memo1	mediator of cell motility 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309929	Memo1	mediator of cell motility 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309929	Memo1	mediator of cell motility 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309929	Memo1	mediator of cell motility 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309929	Memo1	mediator of cell motility 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309929	Memo1	mediator of cell motility 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309929	Memo1	mediator of cell motility 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1607063	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:0080600	COVID-19		ISO	RGD:1607063	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:10534	stomach cancer		ISO	RGD:1607063	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:1115	sarcoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:1909	melanoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:3275	thymoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:4362	cervical cancer		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1607063	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309930	Spats2l	spermatogenesis associated, serine-rich 2-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309932	Eya3	EYA transcriptional coactivator and phosphatase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1320540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309932	Eya3	EYA transcriptional coactivator and phosphatase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309932	Eya3	EYA transcriptional coactivator and phosphatase 3	gene	DOID:1115	sarcoma		ISO	RGD:1320540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309932	Eya3	EYA transcriptional coactivator and phosphatase 3	gene	DOID:1324	lung cancer		ISO	RGD:1320540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309932	Eya3	EYA transcriptional coactivator and phosphatase 3	gene	DOID:3275	thymoma		ISO	RGD:1320540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309932	Eya3	EYA transcriptional coactivator and phosphatase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1320540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309932	Eya3	EYA transcriptional coactivator and phosphatase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320540	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309932	Eya3	EYA transcriptional coactivator and phosphatase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309932	Eya3	EYA transcriptional coactivator and phosphatase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309932	Eya3	EYA transcriptional coactivator and phosphatase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545|PMID:28191890|PMID:33057194|PMID:35917186
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:0080297	Coffin-Siris syndrome 6		ISO	RGD:1320542	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 6	PMID:25741868|PMID:35917186
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1320542	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1320542	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320542	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:33057194|PMID:3591718|PMID:35917186|PMID:36924980
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:35917186
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:3275	thymoma		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:3401	inappropriate ADH syndrome		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inappropriate antidiuretic hormone secretion	PMID:25741868|PMID:35917186
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:3459	breast carcinoma		ISO	RGD:1320542	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:33057194|PMID:3591718|PMID:35917186|PMID:36924980
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320542	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320542	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33057194|PMID:34234147|PMID:34732801|PMID:3591718|PMID:35917186|PMID:36924980
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9006635	Hyponatremia		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:25741868|PMID:35917186
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:35917186
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309933	Gigyf1	GRB10 interacting GYF protein 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1320542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:35917186
1309936	Ly86	lymphocyte antigen 86	gene	DOID:182	calcinosis		ISO	RGD:1320546	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
1309936	Ly86	lymphocyte antigen 86	gene	DOID:4079	heart valve disease		ISO	RGD:1320546	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
1309936	Ly86	lymphocyte antigen 86	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309936	Ly86	lymphocyte antigen 86	gene	DOID:5041	esophageal cancer		ISO	RGD:1320546	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309936	Ly86	lymphocyte antigen 86	gene	DOID:9000998	Brain Injuries		ISO	RGD:1320546	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
1309936	Ly86	lymphocyte antigen 86	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320546	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1309936	Ly86	lymphocyte antigen 86	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309936	Ly86	lymphocyte antigen 86	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:10534	stomach cancer		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:1115	sarcoma		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:1324	lung cancer		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:1909	melanoma		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:3275	thymoma		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:5041	esophageal cancer		ISO	RGD:1320548	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:9003566	Mesothelioma		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309937	Usp36	ubiquitin specific peptidase 36	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:0060653	lethal congenital contracture syndrome 3		ISO	RGD:1320550	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:0060653	lethal congenital contracture syndrome 3		ISO	RGD:1320550	D	RGD:7240710	20130221	OMIM			
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:0060653	lethal congenital contracture syndrome 3		ISO	RGD:1320550	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: LETHAL CONGENITAL CONTRACTURE SYNDROME 3 | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 | ClinVar Annotator: match by term: PIP5K1C-related condition	PMID:17701898|PMID:25741868|PMID:28492532|PMID:37451268|PMID:38491417
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:0070199	Miyoshi muscular dystrophy 1		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1	PMID:25741868
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:0081466	neurodevelopmental disorder with intellectual, visual, and language impairment		ISO	RGD:1320550	D	RGD:7240710	20260805	OMIM			
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:0081466	neurodevelopmental disorder with intellectual, visual, and language impairment		ISO	RGD:1320550	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH INTELLECTUAL VISUAL AND LANGUAGE IMPAIRMENT | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH INTELLECTUAL, VISUAL, AND LANGUAGE IMPAIRMENT	PMID:37451268
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:1324	lung cancer		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:1909	melanoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:3275	thymoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1320550	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:630	genetic disease		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1309938	Pip5k1c	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309939	Sumf1	sulfatase modifying factor 1	gene	DOID:0050441	mucosulfatidosis		ISS	RGD:1553352	D	RGD:13592920	20200806	MouseDO		OMIM:272200	
1309939	Sumf1	sulfatase modifying factor 1	gene	DOID:1927	sphingolipidosis		ISO	RGD:1320552	D	RGD:1599192|PMID:12757705	20070119	RGD		Multiple Sulfatase Deficiency Disease	
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:0050571	congenital disorder of glycosylation type II		ISO	RGD:1320554	D	RGD:11554173	20250527	CTD		CTD Direct Evidence: marker/mechanism	
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:0050571	congenital disorder of glycosylation type II		ISO	RGD:1320554	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDG Ii | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii	PMID:25741868|PMID:28492532|PMID:30061496
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:0080561	congenital disorder of glycosylation Ii		ISO	RGD:1320554	D	RGD:7240710	20130221	OMIM			
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:0080561	congenital disorder of glycosylation Ii		ISO	RGD:1320554	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDG Ii | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii	PMID:25741868|PMID:28492532|PMID:30061496
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:0110669	congenital myasthenic syndrome 14		ISO	RGD:1320554	D	RGD:7240710	20170315	OMIM			
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:0110669	congenital myasthenic syndrome 14		ISO	RGD:1320554	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 14 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 14 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates	PMID:12684507|PMID:25741868|PMID:28492532|PMID:30061496|PMID:34980536
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1320554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:1389	polyneuropathy		ISO	RGD:1320554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868|PMID:28492532
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1320554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1320554	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1320554	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1320554	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:7319	axonal neuropathy		ISO	RGD:1320554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Motor axonal neuropathy	PMID:25741868|PMID:28492532
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1320554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:9001745	Fasciculation		ISO	RGD:1320554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fasciculations	PMID:25741868|PMID:28492532
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1320554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1309940	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	gene	DOID:9007661	Dwarfism		ISO	RGD:1320554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1309941	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309941	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309941	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309941	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:3275	thymoma		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309941	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309941	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309941	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309941	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320556	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16799960
1309941	Htatip2	HIV-1 Tat interactive protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:0060879	primary hypomagnesemia		ISO	RGD:1320558	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia	PMID:25741868|PMID:28492532
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:0060883	intestinal hypomagnesemia 1		ISO	RGD:1320558	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:0060883	intestinal hypomagnesemia 1		ISO	RGD:1320558	D	RGD:7240710	20130221	OMIM			
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:0060883	intestinal hypomagnesemia 1		ISO	RGD:1320558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA | ClinVar Annotator: match by term: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 | ClinVar Annotator: match by term: TRPM6-related condition	PMID:12032568|PMID:12032570|PMID:16107578|PMID:24030239|PMID:25741868|PMID:26813946|PMID:28492532|PMID:33565749|PMID:34906502|PMID:40794449
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:1115	sarcoma		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:1826	epilepsy		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:1909	melanoma		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1320558	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:630	genetic disease		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33565749
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:896	metal metabolism disorder		ISO	RGD:1320558	D	RGD:1599669|PMID:12032568	20070212	RGD		hypomagnesemia with secondary hypocalcemia, OMIM:602014	
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1320558	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:32581362
1309942	Trpm6	transient receptor potential cation channel, subfamily M, member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309944	Mul1	mitochondrial E3 ubiquitin protein ligase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309944	Mul1	mitochondrial E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309944	Mul1	mitochondrial E3 ubiquitin protein ligase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606503	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309944	Mul1	mitochondrial E3 ubiquitin protein ligase 1	gene	DOID:3275	thymoma		ISO	RGD:1606503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309944	Mul1	mitochondrial E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606503	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309944	Mul1	mitochondrial E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309944	Mul1	mitochondrial E3 ubiquitin protein ligase 1	gene	DOID:9000310	Lung Injury		IEP		D	RGD:11343222|PMID:26203915	20251009	RGD		mRNA, protein:increased expression:lung	
1309944	Mul1	mitochondrial E3 ubiquitin protein ligase 1	gene	DOID:9004771	Vascular Remodeling		IEP		D	RGD:11343222|PMID:26203915	20251009	RGD		mRNA, protein:increased expression:lung	
1309944	Mul1	mitochondrial E3 ubiquitin protein ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309944	Mul1	mitochondrial E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:0060264	pontocerebellar hypoplasia		ISO	RGD:1603298	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia	PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:25741868|PMID:28492532
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:0060266	pontocerebellar hypoplasia type 1B		ISO	RGD:1603298	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia	PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:25741868|PMID:28492532
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:0060268	pontocerebellar hypoplasia type 2B		ISO	RGD:1603298	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:0060268	pontocerebellar hypoplasia type 2B		ISO	RGD:1603298	D	RGD:7240710	20141216	OMIM			
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:0060268	pontocerebellar hypoplasia type 2B		ISO	RGD:1603298	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2B | ClinVar Annotator: match by term: TSEN2-related condition	PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:25741868|PMID:28492532|PMID:34964109|PMID:38438125
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:0081048	congenital limbs-face contractures-hypotonia-developmental delay syndrome		ISO	RGD:1603298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay	PMID:25741868
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:1603298	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711368
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:10907	microcephaly		ISO	RGD:1603298	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711368
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:1603298	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hemolytic-uremic syndrome	PMID:34964109
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1603298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1603298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:480	movement disease		ISO	RGD:1603298	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711368
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1603298	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1603298	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711368
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:9000343	Vision Disorders		ISO	RGD:1603298	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711368
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:9004657	Weight Gain		ISO	RGD:1603298	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:18414213|PMID:25741868|PMID:28492532
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309946	Tsen2	tRNA splicing endonuclease subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1320564	D	RGD:13451130|PMID:23767994	20171115	RGD		DNA:missense mutation:cds:p.C27F(c.80G¿¿¿>¿¿¿T)(human)	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:10508521|PMID:22065545|PMID:23379534|PMID:25412400|PMID:25741868|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521|PMID:30718709
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0050817	Stargardt disease		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stargardt disease	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0060869	late-onset retinal degeneration		ISO	RGD:1320565	D	RGD:8552692|PMID:17234588	20140425	RGD		DNA:missense mutation: :p.C249W (mouse)	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0110016	Leber congenital amaurosis 2		ISO	RGD:1320564	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Early-onset retinal dystrophy | ClinVar Annotator: match by term: Leber congenital amaurosis 2	PMID:10508521|PMID:15024725|PMID:16543197|PMID:17724218|PMID:17964524|PMID:19140180|PMID:22065545|PMID:23379534|PMID:23449718|PMID:25133751|PMID:25323024|PMID:25412400|PMID:25741868|PMID:26147992|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521|PMID:31456290|PMID:31896775|PMID:32295525|PMID:33342761|PMID:33546218
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0110016	Leber congenital amaurosis 2		ISO	RGD:1320564	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Early-onset retinal dystrophy	PMID:10508521|PMID:15024725|PMID:16543197|PMID:17724218|PMID:17964524|PMID:19140180|PMID:22065545|PMID:23379534|PMID:23449718|PMID:25133751|PMID:25323024|PMID:25412400|PMID:25741868|PMID:26147992|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521|PMID:31456290|PMID:31896775|PMID:33342761|PMID:33546218
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0110078	Leber congenital amaurosis 1		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1	PMID:10508521|PMID:12700176|PMID:15459956|PMID:17724218|PMID:20956273|PMID:20981092|PMID:22065545|PMID:22995991|PMID:23379534|PMID:23847139|PMID:25412400|PMID:25741868|PMID:26312378|PMID:26957898|PMID:28041643|PMID:28492532|PMID:28819299|PMID:29053603|PMID:29186038|PMID:29391521|PMID:31736247|PMID:31964843|PMID:32783370|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34884448|PMID:35170635|PMID:35672425|PMID:36099972|PMID:36460718
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0110079	Leber congenital amaurosis 8		ISO	RGD:1320564	D	RGD:7240710	20140911	OMIM			
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0110079	Leber congenital amaurosis 8		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 8 | ClinVar Annotator: match by term: Leber congenital amaurosis 8	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12573663|PMID:12700176|PMID:12843338|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16199547|PMID:16505055|PMID:16936081|PMID:17128490|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18055821|PMID:18682808|PMID:20065226|PMID:20079931|PMID:20591486|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22128245|PMID:22261762|PMID:22277662|PMID:22334370|PMID:22995991|PMID:23077403|PMID:23379534|PMID:23449718|PMID:23591405|PMID:23661368|PMID:23847139|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25323024|PMID:25356976|PMID:25412400|PMID:25474345|PMID:25640679|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26165328|PMID:26312378|PMID:26355662|PMID:26626312|PMID:26667666|PMID:26766544|PMID:26872607|PMID:26957898|PMID:27032803|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27375279|PMID:27670293|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28224992|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29053603|PMID:2906847|PMID:29068479|PMID:29178642|PMID:29200130|PMID:29343940|PMID:29391521|PMID:2953188|PMID:29641573|PMID:29844330|PMID:30029497|PMID:30416334|PMID:30576320|PMID:30608181|PMID:30718709|PMID:30902645|PMID:31049658|PMID:3105428|PMID:31054281|PMID:31103025|PMID:31106028|PMID:31322236|PMID:31456290|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31884620|PMID:31964843|PMID:32037395|PMID:32141364|PMID:32531858|PMID:32641690|PMID:32783370|PMID:32865313|PMID:32922261|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33749171|PMID:33921607|PMID:33946315|PMID:33970760|PMID:34003923|PMID:34034222|PMID:34426522|PMID:34721897|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35672425|PMID:36115989|PMID:36369640|PMID:36460718|PMID:36648511|PMID:36729443|PMID:36909829|PMID:37903307|PMID:38219857|PMID:39496395|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0110079	Leber congenital amaurosis 8		ISS	RGD:1320565	D	RGD:13592920	20230718	MouseDO		OMIM:613835	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0110358	retinitis pigmentosa 12		ISO	RGD:1320564	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0110358	retinitis pigmentosa 12		ISO	RGD:1320564	D	RGD:7240710	20130425	OMIM			
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0110358	retinitis pigmentosa 12		ISO	RGD:1320564	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 12	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12573663|PMID:12700176|PMID:12843338|PMID:1389483|PMID:1427914|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:15691574|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16505055|PMID:16543197|PMID:16936081|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17660513|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18055821|PMID:18682808|PMID:19140180|PMID:19339744|PMID:19401883|PMID:19763152|PMID:19956407|PMID:20065226|PMID:20079931|PMID:20301475|PMID:20307669|PMID:20591486|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21484995|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22128245|PMID:22164218|PMID:22219627|PMID:22334370|PMID:22344438|PMID:22406018|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24618324|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25323024|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25525159|PMID:25611614|PMID:25640679|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26147992|PMID:26312378|PMID:26355662|PMID:26626312|PMID:26667666|PMID:26766544|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27032803|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27380427|PMID:27628848|PMID:27670293|PMID:27806333|PMID:27884173|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28600779|PMID:28714225|PMID:28800606|PMID:28819299|PMID:28912962|PMID:29053603|PMID:2906847|PMID:29068479|PMID:29074561|PMID:29145603|PMID:29178642|PMID:29186038|PMID:29200130|PMID:29343940|PMID:29391521|PMID:2953188|PMID:29555955|PMID:29641573|PMID:29844330|PMID:29869924|PMID:30029497|PMID:3012021|PMID:30337596|PMID:30543658|PMID:30576320|PMID:30608181|PMID:30609409|PMID:30718709|PMID:30902645|PMID:30910914|PMID:31047384|PMID:31049658|PMID:3105428|PMID:31054281|PMID:31103025|PMID:31106028|PMID:31322236|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31875109|PMID:31879567|PMID:31884620|PMID:31896775|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32165824|PMID:32176805|PMID:32322752|PMID:32351147|PMID:32531858|PMID:32581362|PMID:32641690|PMID:32783370|PMID:32856788|PMID:32865313|PMID:32901917|PMID:32901921|PMID:32922261|PMID:33029571|PMID:33077954|PMID:33090715|PMID:33342761|PMID:33387055|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33633436|PMID:33749171|PMID:33773389|PMID:33921607|PMID:33946315|PMID:33970760|PMID:34003923|PMID:34034222|PMID:34327195|PMID:34426522|PMID:34721897|PMID:34758253|PMID:34783605|PMID:34828430|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35318874|PMID:35456422|PMID:35538629|PMID:35551639|PMID:35672425|PMID:36099972|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36648511|PMID:36729443|PMID:36819107|PMID:36909829|PMID:37734845|PMID:37762234|PMID:8069649|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0110358	retinitis pigmentosa 12		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 12 | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM | ClinVar Annotator: match by term: Retinitis pigmentosa 12	PMID:10508521|PMID:11389483|PMID:15459956|PMID:15623792|PMID:16199547|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18682808|PMID:19763152|PMID:20307669|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21602930|PMID:22065545|PMID:22261762|PMID:22406018|PMID:22995991|PMID:23379534|PMID:23449718|PMID:23847139|PMID:24535598|PMID:24715753|PMID:24938718|PMID:25097241|PMID:25326637|PMID:25356976|PMID:25412400|PMID:25474345|PMID:25611614|PMID:25741868|PMID:26047050|PMID:26312378|PMID:26667666|PMID:26957898|PMID:27353947|PMID:28041643|PMID:28129017|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28819299|PMID:29053603|PMID:2906847|PMID:29068479|PMID:29343940|PMID:29391521|PMID:30718709|PMID:30902645|PMID:3105428|PMID:31736247|PMID:31884620|PMID:31964843|PMID:32141364|PMID:32531858|PMID:32783370|PMID:32865313|PMID:32922261|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33749171|PMID:33946315|PMID:34426522|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35672425|PMID:36460718|PMID:39496395
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0110358	retinitis pigmentosa 12		ISS	RGD:1320565	D	RGD:13592920	20230718	MouseDO		OMIM:600105	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:1320564	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 40	PMID:10508521|PMID:22065545|PMID:23379534|PMID:23847139|PMID:25412400|PMID:25741868|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0110403	retinitis pigmentosa 13		ISO	RGD:1320564	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa-13	PMID:16936081|PMID:25741868|PMID:26355662|PMID:28492532
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0111541	pigmented paravenous chorioretinal atrophy		ISO	RGD:1320564	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0111541	pigmented paravenous chorioretinal atrophy		ISO	RGD:1320564	D	RGD:7240710	20130221	OMIM			
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0111541	pigmented paravenous chorioretinal atrophy		ISO	RGD:1320564	D	RGD:8552694|PMID:15623792	20140425	RGD		DNA:missense mutation:cds:p.V162M (human)	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:0111541	pigmented paravenous chorioretinal atrophy		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophy | ClinVar Annotator: match by term: Pigmented paravenous retinochoroidal atrophy	PMID:10508521|PMID:11389483|PMID:15459956|PMID:17724218|PMID:17964524|PMID:19339744|PMID:20956273|PMID:20981092|PMID:21602930|PMID:22065545|PMID:22995991|PMID:23379534|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26312378|PMID:26957898|PMID:28041643|PMID:28492532|PMID:28819299|PMID:29053603|PMID:29343940|PMID:29391521|PMID:3105428|PMID:31736247|PMID:31964843|PMID:32783370|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34884448|PMID:35119454|PMID:35170635|PMID:35672425|PMID:36460718|PMID:39496395
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10508521|PMID:11389483|PMID:16272259
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8552697|PMID:20956273	20140425	RGD		DNA:missense mutations, nonsense mutation:cds:multiple	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30718709|PMID:31456290|PMID:33546218|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30718709|PMID:31456290|PMID:33546218
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32581362|PMID:33090715|PMID:33546218|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32165824|PMID:32581362|PMID:33090715|PMID:33546218|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:16936081|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27353947|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33546218|PMID:33579689|PMID:33921607|PMID:34884448|PMID:34906470|PMID:36909829|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:16936081|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22863181|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25474345|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26914788|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27353947|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28559085|PMID:28600779|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29343940|PMID:29391521|PMID:29869924|PMID:30029497|PMID:30337596|PMID:30543658|PMID:30576320|PMID:30718709|PMID:3105428|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31879567|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32141364|PMID:32176805|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33029571|PMID:33077954|PMID:33090715|PMID:33342761|PMID:33387055|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33749171|PMID:33921607|PMID:33970760|PMID:34003923|PMID:34327195|PMID:34426522|PMID:34758253|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35538629|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:16936081|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22863181|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25474345|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26914788|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27353947|PMID:27380427|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28559085|PMID:28600779|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29343940|PMID:29391521|PMID:29869924|PMID:30029497|PMID:30337596|PMID:30543658|PMID:30576320|PMID:30718709|PMID:3105428|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31879567|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32141364|PMID:32176805|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33029571|PMID:33077954|PMID:33090715|PMID:33342761|PMID:33387055|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33749171|PMID:33921607|PMID:33970760|PMID:34003923|PMID:34327195|PMID:34426522|PMID:34758253|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35538629|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:17576681|PMID:18055816|PMID:18055820|PMID:19401883|PMID:19956407|PMID:20301475|PMID:20956273|PMID:21602930|PMID:22065545|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24265693|PMID:24512366|PMID:24938718|PMID:25097241|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26626312|PMID:26914788|PMID:26957898|PMID:27113771|PMID:27353947|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29343940|PMID:29391521|PMID:30337596|PMID:30576320|PMID:30718709|PMID:3105428|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31736247|PMID:31879567|PMID:31964843|PMID:31980526|PMID:32141364|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33029571|PMID:33090715|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33970760|PMID:34003923|PMID:34327195|PMID:34426522|PMID:34758253|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:11389483|PMID:12700176|PMID:12843338|PMID:15459956|PMID:17576681|PMID:18055820|PMID:19956407|PMID:20956273|PMID:21602930|PMID:22065545|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24265693|PMID:24512366|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27353947|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28559085|PMID:29391521|PMID:30718709|PMID:3105428|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31736247|PMID:31964843|PMID:31980526|PMID:32531858|PMID:33090715|PMID:33546218|PMID:33579689|PMID:33970760|PMID:34003923|PMID:34426522|PMID:34758253|PMID:34884448|PMID:34906470|PMID:35119454|PMID:36460718|PMID:36819107|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:17576681|PMID:19956407|PMID:21602930|PMID:22065545|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24265693|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27353947|PMID:28041643|PMID:28492532|PMID:29391521|PMID:30718709|PMID:3105428|PMID:31456290|PMID:32531858|PMID:33090715|PMID:33579689|PMID:34906470|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa	susceptibility	ISO	RGD:1320564	D	RGD:1600966|PMID:10508521	20070402	RGD		DNA:missense mutations	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:1059	intellectual disability		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11389483
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:8552697|PMID:20956273	20140425	RGD		DNA:mutations:exon:multiple	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:8552785|PMID:24715753	20140429	RGD		DNA:missense mutations, deletion, nonsense mutation, haplotype:exon:multiple	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26147992|PMID:26667666|PMID:26872607|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27628848|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29178642|PMID:29186038|PMID:29391521|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31896775|PMID:32141364|PMID:33342761|PMID:33546218|PMID:33576794
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27628848|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29068479|PMID:29178642|PMID:29391521|PMID:29641573|PMID:30029497|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31725702|PMID:31736247|PMID:31896775|PMID:32141364|PMID:32581362|PMID:32865313|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33921607|PMID:34884448|PMID:34906470|PMID:35318874|PMID:36909829|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22344438|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25525159|PMID:25741868|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27628848|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28600779|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29053603|PMID:29068479|PMID:29145603|PMID:29178642|PMID:29343940|PMID:29391521|PMID:29555955|PMID:29641573|PMID:29869924|PMID:30029497|PMID:3012021|PMID:30337596|PMID:30576320|PMID:30609409|PMID:30718709|PMID:30910914|PMID:31047384|PMID:3105428|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31875109|PMID:31879567|PMID:31896775|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32141364|PMID:32165824|PMID:32176805|PMID:32351147|PMID:32531858|PMID:32581362|PMID:32783370|PMID:32865313|PMID:32901917|PMID:33029571|PMID:33077954|PMID:33090715|PMID:33342761|PMID:33387055|PMID:33546218|PMID:33576794|PMID:33749171|PMID:33773389|PMID:33921607|PMID:33946315|PMID:33970760|PMID:34003923|PMID:34034222|PMID:34327195|PMID:34426522|PMID:34721897|PMID:34758253|PMID:34783605|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35318874|PMID:35456422|PMID:35538629|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22344438|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25525159|PMID:25741868|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27628848|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28600779|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29053603|PMID:29068479|PMID:29145603|PMID:29178642|PMID:29343940|PMID:29391521|PMID:29555955|PMID:29641573|PMID:29869924|PMID:30029497|PMID:3012021|PMID:30337596|PMID:30576320|PMID:30609409|PMID:30718709|PMID:30910914|PMID:31047384|PMID:3105428|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31875109|PMID:31879567|PMID:31896775|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32141364|PMID:32165824|PMID:32176805|PMID:32322752|PMID:32351147|PMID:32531858|PMID:32581362|PMID:32783370|PMID:32865313|PMID:32901917|PMID:33029571|PMID:33077954|PMID:33090715|PMID:33342761|PMID:33387055|PMID:33546218|PMID:33576794|PMID:33749171|PMID:33773389|PMID:33921607|PMID:33946315|PMID:33970760|PMID:34003923|PMID:34034222|PMID:34327195|PMID:34426522|PMID:34721897|PMID:34758253|PMID:34783605|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35318874|PMID:35456422|PMID:35538629|PMID:35672425|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22344438|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25525159|PMID:25741868|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27628848|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28600779|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29068479|PMID:29145603|PMID:29178642|PMID:29343940|PMID:29391521|PMID:29555955|PMID:29641573|PMID:29869924|PMID:30029497|PMID:3012021|PMID:30337596|PMID:30576320|PMID:30609409|PMID:30718709|PMID:30910914|PMID:31047384|PMID:3105428|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31875109|PMID:31879567|PMID:31896775|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32141364|PMID:32165824|PMID:32176805|PMID:32322752|PMID:32351147|PMID:32531858|PMID:32581362|PMID:32783370|PMID:32865313|PMID:32901917|PMID:33029571|PMID:33077954|PMID:33090715|PMID:33342761|PMID:33387055|PMID:33546218|PMID:33576794|PMID:33749171|PMID:33773389|PMID:33921607|PMID:33946315|PMID:33970760|PMID:34003923|PMID:34034222|PMID:34327195|PMID:34426522|PMID:34721897|PMID:34758253|PMID:34783605|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35318874|PMID:35456422|PMID:35538629|PMID:35672425|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital | ClinVar Annotator: match by term: leber congenital amaurosis	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:16123401|PMID:16199547|PMID:16505055|PMID:16543197|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18682808|PMID:19140180|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21147909|PMID:21217109|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22128245|PMID:22219627|PMID:22344438|PMID:22968130|PMID:22995991|PMID:23077403|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25133751|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26147992|PMID:26312378|PMID:26626312|PMID:26667666|PMID:26766544|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27353947|PMID:27380427|PMID:27422788|PMID:27670293|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28600779|PMID:28714225|PMID:28819299|PMID:28912962|PMID:2906847|PMID:29068479|PMID:29145603|PMID:29178642|PMID:29200130|PMID:29343940|PMID:29391521|PMID:29641573|PMID:29869924|PMID:30029497|PMID:30337596|PMID:30543658|PMID:30576320|PMID:30718709|PMID:30902645|PMID:3105428|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31879567|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32141364|PMID:32165824|PMID:32176805|PMID:32322752|PMID:32351147|PMID:32531858|PMID:32581362|PMID:32783370|PMID:32856788|PMID:32865313|PMID:32901917|PMID:32901921|PMID:32931148|PMID:33029571|PMID:33077954|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33633436|PMID:33749171|PMID:33921607|PMID:33946315|PMID:33970760|PMID:34003923|PMID:34130719|PMID:34315337|PMID:34321860|PMID:34327195|PMID:34426522|PMID:34721897|PMID:34758253|PMID:34783605|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35318874|PMID:35538629|PMID:35551639|PMID:35672425|PMID:36099972|PMID:36196406|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36648511|PMID:36729443|PMID:36819107|PMID:36830922|PMID:36909829|PMID:37009079|PMID:37217489|PMID:37240262|PMID:37541258|PMID:37544434|PMID:37734845|PMID:37762234|PMID:37792335|PMID:38066771|PMID:38088826|PMID:38219857|PMID:38279252|PMID:38466290|PMID:39062705|PMID:39089008|PMID:39462066|PMID:39699888|PMID:39766915|PMID:40610573|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320565	D	RGD:8552784|PMID:24339791	20140429	RGD			
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:1909	melanoma		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25097241|PMID:25741868|PMID:28492532
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:3070	high grade glioma		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:4448	macular degeneration		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:29391521
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:4448	macular degeneration		ISO	RGD:1320565	D	RGD:8552788|PMID:24432192	20140429	RGD		DNA:frameshift mutation	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:5327	retinal detachment		ISO	RGD:1320564	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11389483
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:5419	schizophrenia		ISO	RGD:1320564	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:5679	retinal disease		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:15623792|PMID:17128490|PMID:17297678|PMID:22065545|PMID:23379534|PMID:24033266|PMID:25474345|PMID:25741868|PMID:27096895|PMID:27258436|PMID:27628848|PMID:28041643|PMID:28181551|PMID:28492532|PMID:28559085|PMID:28819299|PMID:29391521|PMID:29555955|PMID:29869924|PMID:30609409|PMID:30910914|PMID:31047384|PMID:31736247|PMID:31875109|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32581362|PMID:33029571|PMID:33387055|PMID:33546218|PMID:33749171|PMID:33773389|PMID:34003923|PMID:34034222|PMID:34426522|PMID:34783605|PMID:34884448|PMID:35119454|PMID:35456422|PMID:36196406|PMID:36460718|PMID:36819107|PMID:36909829
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:5723	optic atrophy		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:32531858
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:630	genetic disease		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:7736	retinal telangiectasia		ISO	RGD:1320564	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11389483
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10508521|PMID:11389483|PMID:12700176|PMID:15024725|PMID:15459956|PMID:15623792|PMID:15691574|PMID:16199547|PMID:16936081|PMID:17576681|PMID:17964524|PMID:18055820|PMID:20591486|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21484995|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22261762|PMID:22995991|PMID:23379534|PMID:23449718|PMID:24265693|PMID:24535598|PMID:24618324|PMID:24938718|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:2552515|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26165328|PMID:26312378|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27208204|PMID:27353947|PMID:27380427|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28819299|PMID:29053603|PMID:29074561|PMID:29186038|PMID:29343940|PMID:29391521|PMID:30543658|PMID:30576320|PMID:30718709|PMID:30910914|PMID:3105428|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31816670|PMID:31879567|PMID:31896775|PMID:3196484|PMID:31964843|PMID:32037395|PMID:32322752|PMID:32531858|PMID:32581362|PMID:32783370|PMID:32865313|PMID:32901921|PMID:33090715|PMID:33342761|PMID:33387055|PMID:33546218|PMID:33749171|PMID:33946315|PMID:33970760|PMID:34003923|PMID:34426522|PMID:34884448|PMID:35170635|PMID:35456422|PMID:35672425|PMID:36099972|PMID:36284460|PMID:36460718|PMID:36819107|PMID:37240262|PMID:37734845|PMID:37762234|PMID:9536098
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1320564	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:15459956|PMID:20956273|PMID:20981092|PMID:22065545|PMID:22995991|PMID:25741868|PMID:26312378|PMID:28492532|PMID:28819299|PMID:31736247|PMID:31964843|PMID:32783370|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34884448|PMID:35170635|PMID:35672425
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:9006597	Retinal Dysplasia	treatment	ISO	RGD:1320565	D	RGD:8552698|PMID:24346171	20140425	RGD			
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:9007488	Idiopathic Juxtafoveal Retinal Telangiectasia		IAGP		D	RGD:13451131|PMID:25878282	20171115	RGD			
1309947	Crb1	crumbs cell polarity complex component 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1320564	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868|PMID:30820146|PMID:38374194
1309948	Tmem135	transmembrane protein 135	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309948	Tmem135	transmembrane protein 135	gene	DOID:10534	stomach cancer		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309948	Tmem135	transmembrane protein 135	gene	DOID:1059	intellectual disability		ISO	RGD:1603382	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1309948	Tmem135	transmembrane protein 135	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309948	Tmem135	transmembrane protein 135	gene	DOID:1115	sarcoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309948	Tmem135	transmembrane protein 135	gene	DOID:1324	lung cancer		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309948	Tmem135	transmembrane protein 135	gene	DOID:1909	melanoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309948	Tmem135	transmembrane protein 135	gene	DOID:3068	glioblastoma		ISO	RGD:1603382	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1309948	Tmem135	transmembrane protein 135	gene	DOID:3070	high grade glioma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309948	Tmem135	transmembrane protein 135	gene	DOID:3275	thymoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309948	Tmem135	transmembrane protein 135	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1603382	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1309948	Tmem135	transmembrane protein 135	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309948	Tmem135	transmembrane protein 135	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309948	Tmem135	transmembrane protein 135	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309948	Tmem135	transmembrane protein 135	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1309948	Tmem135	transmembrane protein 135	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309948	Tmem135	transmembrane protein 135	gene	DOID:9256	colorectal cancer		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:4195	hyperglycemia		ISO	RGD:1320567	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18056790
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:630	genetic disease		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SIM1-associated metabolic syndrome	
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1320567	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15818620
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:21512513|PMID:2152513|PMID:23778139|PMID:25234154|PMID:25741868|PMID:28492532
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9970	obesity		ISO	RGD:1320567	D	RGD:1624165|PMID:10587584	20070503	RGD		DNA:translocation	
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9970	obesity		ISO	RGD:1320567	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition | ClinVar Annotator: match by term: UCP3-related condition	PMID:16924270|PMID:19401419|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25234154|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30991789
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9970	obesity		ISO	RGD:1320567	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition	PMID:16924270|PMID:19401419|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25234154|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30991789|PMID:33434169
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9970	obesity		ISO	RGD:1320567	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition	PMID:16924270|PMID:19401419|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25234154|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30926952|PMID:30991789|PMID:33434169
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9970	obesity		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition	PMID:16924270|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30926952|PMID:30991789|PMID:33434169|PMID:37329217
1309949	Sim1	SIM bHLH transcription factor 1	gene	DOID:9970	obesity		ISS	RGD:1320568	D	RGD:13592920	20190613	MouseDO		OMIM:601665	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:0060058	lymphoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3		ISO	RGD:1320569	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3		ISO	RGD:1320569	D	RGD:7240710	20140924	OMIM			
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3		ISO	RGD:1320569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G	PMID:17576681|PMID:24647604|PMID:25741868|PMID:28492532|PMID:30604053|PMID:31267206|PMID:32528171|PMID:33131168|PMID:36575883|PMID:9536098
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:24647604|PMID:25741868|PMID:28492532|PMID:31267206
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:10534	stomach cancer		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:1115	sarcoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:1324	lung cancer		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:1909	melanoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:3275	thymoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:4362	cervical cancer		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:6039	uveal melanoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:870	neuropathy		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24647604|PMID:25741868|PMID:28492532|PMID:31267206
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309950	Hnrnpdl	heterogeneous nuclear ribonucleoprotein D-like	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:733483	D	RGD:10449410|PMID:17111197	20151229	RGD		DNA:SNP: :1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050633	ocular albinism 1		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ocular albinism	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050745	diffuse large B-cell lymphoma	susceptibility	ISO	RGD:733483	D	RGD:6893517|PMID:17712558	20120904	RGD		DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050830	peripheral artery disease	susceptibility	ISO	RGD:733483	D	RGD:6893659|PMID:16274479	20120917	RGD		associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050864	non-arteritic anterior ischemic optic neuropathy	susceptibility	ISO	RGD:733483	D	RGD:8693343|PMID:20162297	20140711	RGD		DNA:polymorphism: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:10449416|PMID:16365753	20151229	RGD		DNA:missense mutation:cds:677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0050873	follicular lymphoma		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16410450
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:733483	D	RGD:4891157|PMID:19764075	20110110	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0051061	stroke		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15534175|PMID:16681562|PMID:19646848
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0051061	stroke		ISO	RGD:733483	D	RGD:6893467|PMID:15652605	20120830	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0051061	stroke	no_association	ISO	RGD:733483	D	RGD:10449417|PMID:9840906	20151229	RGD		associated with Anemia, Sickle Cell;DNA:missense mutation:cds:677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733483	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0060058	lymphoma		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16799656
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17488658
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0060326	myelomeningocele		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16602021
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0060326	myelomeningocele		ISO	RGD:733483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myelomeningocele	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0060770	dextro-looped transposition of the great arteries	susceptibility	ISO	RGD:733483	D	RGD:11565105|PMID:22868813	20161121	RGD		DNA:SNP: : rs1801133(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0060903	thrombosis	no_association	ISO	RGD:733483	D	RGD:10449414|PMID:10780318	20151229	RGD		DNA:SNP: :677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:733483	D	RGD:10449419|PMID:23107469	20151229	RGD		DNA:SNPs: :677C>T, 1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0070309	absence epilepsy		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:28492532
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080016	spina bifida		ISO	RGD:733483	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27713094
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080016	spina bifida	no_association	ISO	RGD:733483	D	RGD:11565178|PMID:15022402	20161122	RGD		DNA:polymorphism: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080016	spina bifida	severity	ISO	RGD:733483	D	RGD:11565104|PMID:12797455	20161121	RGD		DNA:polymorphism: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080016	spina bifida	susceptibility	ISO	RGD:733483	D	RGD:6893455|PMID:10791559	20120829	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080074	neural tube defect		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23056169
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080074	neural tube defect		ISS	RGD:1551392	D	RGD:13592920	20230718	MouseDO		OMIM:301410 | OMIM:601634	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080074	neural tube defect	susceptibility	ISO	RGD:733483	D	RGD:11565102|PMID:8826441	20161121	RGD		DNA:polymorphism: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080177	hepatic veno-occlusive disease	susceptibility	ISO	RGD:733483	D	RGD:14696752|PMID:24583625	20190723	RGD		DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080178	mucositis		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17488658
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:733483	D	RGD:14696706|PMID:24488901	20190716	RGD		DNA:SNP: :1298A > C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	susceptibility	ISO	RGD:733483	D	RGD:14696748|PMID:17563923	20190723	RGD		DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16518429
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:733483	D	RGD:6893635|PMID:19005482	20120913	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0111907	thrombophilia due to thrombin defect		ISO	RGD:733483	D	RGD:7240710	20260812	OMIM			
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:0111907	thrombophilia due to thrombin defect		ISO	RGD:733483	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT | ClinVar Annotator: match by term: Thrombophilia due to thrombin defect	PMID:15048559|PMID:25736335|PMID:25741868|PMID:26872964|PMID:27743313|PMID:28492532|PMID:29246599|PMID:37972026
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10024	migraine with aura	susceptibility	ISO	RGD:733483	D	RGD:7387244|PMID:21635773	20131024	RGD		DNA:SNP:cds:677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10159	osteonecrosis	no_association	ISO	RGD:733483	D	RGD:10449417|PMID:9840906	20151229	RGD		associated with Anemia, Sickle Cell;DNA:SNP: :677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10283	prostate cancer		ISO	RGD:733483	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10283	prostate cancer		ISO	RGD:733483	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10534	stomach cancer	no_association	ISO	RGD:733483	D	RGD:38501052|PMID:24615072	20200813	RGD		DNA:missense mutation:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10534	stomach cancer	no_association	ISO	RGD:733483	D	RGD:38501056|PMID:23183616	20200814	RGD		DNA:missense mutation:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10548	cardia cancer	no_association	ISO	RGD:733483	D	RGD:38501052|PMID:24615072	20200813	RGD		associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10579	leukodystrophy		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy | ClinVar Annotator: match by term: leukodystrophy	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1059	intellectual disability		ISO	RGD:733483	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17192785
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1067	open-angle glaucoma	no_association	ISO	RGD:733483	D	RGD:7387254|PMID:17558844	20131024	RGD		DNA:SNPs: : 677C>T, 1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1067	open-angle glaucoma	susceptibility	ISO	RGD:733483	D	RGD:7387252|PMID:15808177	20131024	RGD		DNA:SNP: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1074	kidney failure		ISO	RGD:733483	D	RGD:6893515|PMID:20433440	20120904	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10873	Kuhnt-Junius degeneration	susceptibility	ISO	RGD:733483	D	RGD:7387224|PMID:22065928	20131023	RGD		DNA:SNP:cds:rs1801133(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10907	microcephaly		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10908	hydrocephalus		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10923	sickle cell anemia	no_association	ISO	RGD:733483	D	RGD:10449403|PMID:22924497	20151229	RGD		DNA:SNP: :1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10923	sickle cell anemia	no_association	ISO	RGD:733483	D	RGD:10449420|PMID:20113291	20151229	RGD		DNA:SNP: :677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:10923	sickle cell anemia	severity	ISO	RGD:733483	D	RGD:10449403|PMID:22924497	20151229	RGD		DNA:SNP: :677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1094	attention deficit hyperactivity disorder	no_association	ISO	RGD:733483	D	RGD:11565109|PMID:21819229	20161121	RGD		DNA:SNP: :1298A>C,677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1094	attention deficit hyperactivity disorder	susceptibility	ISO	RGD:733483	D	RGD:11565107|PMID:21897766	20161121	RGD		DNA:polymorphism: :1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22747749
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer	no_association	ISO	RGD:733483	D	RGD:6893597|PMID:17311259	20120912	RGD		protein:missense mutation:cds:p.A222V (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:733483	D	RGD:6893457|PMID:22126575	20100315	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:733483	D	RGD:6893516|PMID:20146887	20120904	RGD		DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:733483	D	RGD:6893521|PMID:19837268	20120905	RGD		DNA:transversion:cds:g.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11166	Human papillomavirus infectious disease	no_association	ISO	RGD:733483	D	RGD:38501058|PMID:23444906	20200814	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11512	Budd-Chiari syndrome		ISO	RGD:733483	D	RGD:10449395|PMID:12221667	20151228	RGD		DNA:transition: :677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11512	Budd-Chiari syndrome	susceptibility	ISO	RGD:733483	D	RGD:11537993|PMID:26238013	20190723	RGD		DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11664	nephrosclerosis		ISO	RGD:733483	D	RGD:6893469|PMID:21613384	20120830	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868|PMID:28492532
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11695	portal vein thrombosis	susceptibility	ISO	RGD:733483	D	RGD:14696705|PMID:27221722	20190716	RGD		DNA:SNP: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11695	portal vein thrombosis	susceptibility	ISO	RGD:733483	D	RGD:14696749|PMID:25987440	20190723	RGD		DNA:SNP: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11713	diabetic angiopathy		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16681562
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:11836	clubfoot		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16936070
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1205	allergic disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16766537
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:12134	factor VIII deficiency	no_association	ISO	RGD:733483	D	RGD:10449409|PMID:22411997	20151229	RGD		DNA:SNP: :1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:12134	factor VIII deficiency	severity	ISO	RGD:733483	D	RGD:10449409|PMID:22411997	20151229	RGD		DNA:SNP: :677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1227	neutropenia		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19391036
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:12336	male infertility		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16861746
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:12336	male infertility	susceptibility	ISO	RGD:733483	D	RGD:11565106|PMID:16247718	20161121	RGD		:DNA:polymorphism: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:733483	D	RGD:7387246|PMID:20941748	20131024	RGD		DNA:SNP:cds:677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:12849	autistic disorder		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19267885
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:12849	autistic disorder		ISO	RGD:733483	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:28492532
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16958597|PMID:25050994
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:733483	D	RGD:1580585|PMID:12187094	19990101	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:13001	carotid stenosis		ISO	RGD:733483	D	RGD:5509914|PMID:15748240	20111111	RGD		DNA:SNP:CDS:rs1801133, c.677C>T, p.A222V, in men only (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1324	lung cancer		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:13550	angle-closure glaucoma	susceptibility	ISO	RGD:733483	D	RGD:7387250|PMID:19936026	20131024	RGD		DNA:SNPs: :677C>T,1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:13938	amenorrhea		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amenorrhea	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:14018	alcoholic liver cirrhosis	susceptibility	ISO	RGD:733483	D	RGD:14696749|PMID:25987440	20190723	RGD		DNA:SNP: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:14250	Down syndrome		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16353284|PMID:16489479|PMID:16845273|PMID:17431899
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:14250	Down syndrome	susceptibility	ISO	RGD:733483	D	RGD:11565177|PMID:16489479	20161122	RGD		DNA:SNPs:cds:c.677C>T,c.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:14330	Parkinson's disease		ISO	RGD:733483	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30726997
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1459	hypothyroidism		IEP		D	RGD:6893690|PMID:7990714	20120918	RGD		protein:decreased activity:liver (rat)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1588	thrombocytopenia		ISO	RGD:733483	D	RGD:10449418|PMID:23498762	20151229	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1588	thrombocytopenia		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19391036
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1588	thrombocytopenia		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1588	thrombocytopenia	no_association	ISO	RGD:733483	D	RGD:10449418|PMID:23498762	20151229	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1596	depressive disorder		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17074966
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1682	congenital heart disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16524890
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1727	retinal vein occlusion	no_association	ISO	RGD:733483	D	RGD:10449405|PMID:23289804	20151229	RGD		DNA:SNP: :1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1727	retinal vein occlusion	no_association	ISO	RGD:733483	D	RGD:10449421|PMID:24250697	20151229	RGD		DNA:missense mutation:cds:677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1727	retinal vein occlusion	susceptibility	ISO	RGD:733483	D	RGD:7387256|PMID:10485556	20131024	RGD		DNA:SNP: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1749	squamous cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:6893580|PMID:17627246	20120910	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:178	vascular disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19646848
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:733483	D	RGD:2317120|PMID:16737574	20100315	RGD		DNA:polymorphism: :677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1826	epilepsy		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1827	generalized epilepsy		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1936	atherosclerosis	severity	ISO	RGD:733483	D	RGD:6893579|PMID:17899317	20120917	RGD		associated with Kidney Failure, Chronic; DNA:transversion:cds:g.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:1984	rectal benign neoplasm	severity	ISO	RGD:733483	D	RGD:6893664|PMID:21865946	20120917	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2043	hepatitis B	no_association	ISO	RGD:733483	D	RGD:38508898|PMID:18222012	20200819	RGD		DNA:missense mutations:cds:g.1298A>C, g.2756A>G	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:733483	D	RGD:38508898|PMID:18222012	20200819	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2154	nephroblastoma	susceptibility	ISO	RGD:733483	D	RGD:6893546|PMID:19346876	20120906	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2316	brain ischemia		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15534175
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2355	anemia		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19391036|PMID:25007187
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2355	anemia	susceptibility	ISO	RGD:733483	D	RGD:11080979|PMID:25007187	20160520	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma; DNA:SNP:: rs1801133(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2388	renal artery disease		ISO	RGD:733483	D	RGD:2313876|PMID:16760910	20140522	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2452	thrombophilia		ISO	RGD:733483	D	RGD:10449396|PMID:16570355	20151228	RGD		associated with Liver Cirrhosis, Biliary;DNA:SNP: :677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2452	thrombophilia		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17493413
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2671	transitional cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:6893477|PMID:21046286	20120831	RGD		DNA:transversion:cds:g.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2841	asthma		ISO	RGD:733483	D	RGD:4891145|PMID:20456312	20110110	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2921	glomerulonephritis		ISO	RGD:733483	D	RGD:6893468|PMID:22111818	20120830	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:2987	familial Mediterranean fever	susceptibility	ISO	RGD:733483	D	RGD:38501050|PMID:28543752	20200813	RGD		DNA:missense mutations:cds:g.677C>T (rs1801133), g.1298A>C (rs1801131) (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3021	acute kidney failure		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17387702
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3070	high grade glioma		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25736335|PMID:25741868|PMID:28492532|PMID:31068897
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:319	spinal cord disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16361298
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:326	ischemia	susceptibility	ISO	RGD:733483	D	RGD:7387251|PMID:17719079	20131024	RGD		associated with Retinal Vein Occlusion;DNA:SNP:cds:677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3312	bipolar disorder		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17074966
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:332	amyotrophic lateral sclerosis	no_association	ISO	RGD:733483	D	RGD:11565173|PMID:21868135	20161122	RGD		DNA:polymorphism: :c.677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:332	amyotrophic lateral sclerosis	susceptibility	ISO	RGD:733483	D	RGD:11565111|PMID:21128869	20161121	RGD		DNA:polymorphism: :c.677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3347	osteosarcoma	treatment	ISO	RGD:733483	D	RGD:6893634|PMID:19159907	20120913	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:733483	D	RGD:1580579|PMID:15648053	19990101	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:733483	D	RGD:401850782|PMID:24315498	20231025	RGD		DNA:SNPs: (rs1801133, rs4846049) (Human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:733483	D	RGD:6893453|PMID:12387655	20120829	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3526	cerebral infarction		ISO	RGD:733483	D	RGD:1580590|PMID:10929044	19990101	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:3572	intracranial sinus thrombosis		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18941937
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:37	skin disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17548696
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:409	liver disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16877991
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:4247	coronary restenosis		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16489563
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:4362	cervical cancer	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200813	RGD		DNA:missense mutation:cds:g.1298A>C (human)	PMID:27771518|REF_RGD_ID:38501051
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:4450	renal cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:6893654|PMID:18098291	20120917	RGD		DNA:missense mutation:cds:p.A222V (rs1801133) (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:4467	clear cell renal cell carcinoma	severity	ISO	RGD:733483	D	RGD:6893632|PMID:20039875	20120913	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:4467	clear cell renal cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:6893474|PMID:21489764	20120831	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:4947	cholangiocarcinoma	susceptibility	ISO	RGD:733483	D	RGD:2317119|PMID:17201138	20100315	RGD		DNA:polymorphism (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5082	liver cirrhosis	susceptibility	ISO	RGD:733483	D	RGD:14696749|PMID:25987440	20190723	RGD		DNA:SNP: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5409	lung small cell carcinoma	severity	ISO	RGD:733483	D	RGD:4891158|PMID:17533396	20110110	RGD		protein:missense mutation:cds:p.A222V (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5419	schizophrenia		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16641680|PMID:17074966|PMID:18583979
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5419	schizophrenia		ISO	RGD:733483	D	RGD:7240710	20260812	OMIM			
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5419	schizophrenia		ISO	RGD:733483	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:15048559|PMID:25736335|PMID:25741868|PMID:26872964|PMID:27743313|PMID:28492532|PMID:29246599|PMID:37972026
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:733483	D	RGD:6893466|PMID:16172608	20120830	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:557	kidney disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18551038
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5614	eye disease	susceptibility	ISO	RGD:733483	D	RGD:7387241|PMID:16299146	20131024	RGD		associated with Behcet Syndrome;DNA:SNP:cds:677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5679	retinal disease		ISO	RGD:1551392	D	RGD:7387239|PMID:20532821	20131024	RGD			
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5844	myocardial infarction		ISO	RGD:733483	D	RGD:10449412|PMID:10090925	20151229	RGD		DNA:SNP: :677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:733483	D	RGD:6893548|PMID:19272686	20120906	RGD		associated with Kidney Failure, Chronic; DNA:transition:cds:g.677C>T rs1801133 (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:607	paraplegia		ISO	RGD:733483	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:61	mitral valve disease	susceptibility	ISO	RGD:733483	D	RGD:11537145|PMID:26813460	20210303	RGD		associated with rheumatic heart disease;DNA:SNP:cds:677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:615	leukopenia		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19648163
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:630	genetic disease		ISO	RGD:733483	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:6364	migraine	susceptibility	ISO	RGD:733483	D	RGD:7387244|PMID:21635773	20131024	RGD		DNA:SNP:cds:677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:6419	tetralogy of Fallot	susceptibility	ISO	RGD:733483	D	RGD:11565105|PMID:22868813	20161121	RGD		DNA:SNP: : rs1801133(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:674	cleft palate		ISO	RGD:733483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: cleft palate	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:733483	D	RGD:14696704|PMID:23996892	20190716	RGD		DNA:SNP: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:684	hepatocellular carcinoma	onset	ISO	RGD:733483	D	RGD:14696707|PMID:19035314	20190716	RGD		DNA:SNP: :1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:733483	D	RGD:14696703|PMID:17503006	20190716	RGD		DNA:SNP,haplotype: :677C>T, 1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:733483	D	RGD:14696708|PMID:17659576	20190716	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:7147	ankylosing spondylitis	susceptibility	ISO	RGD:733483	D	RGD:42722610|PMID:25060515	20210303	RGD		DNA:SNP:cds:677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22104130
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:733483	D	RGD:7387222|PMID:23685257	20131023	RGD		DNA:SNP: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:74	hematopoietic system disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19159907
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:733483	D	RGD:6893584|PMID:17398378	20120911	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:77	gastrointestinal system disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19648163
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease		ISO	RGD:733483	D	RGD:14696732|PMID:25664255	20190722	RGD		DNA:SNP: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease	no_association	ISO	RGD:733483	D	RGD:6893523|PMID:19520069	20120905	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease	severity	ISO	RGD:733483	D	RGD:6893524|PMID:14737040	20120905	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease	susceptibility	ISO	RGD:733483	D	RGD:6893522|PMID:19520684	20120905	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease	susceptibility	ISO	RGD:733483	D	RGD:6893579|PMID:17899317	20120910	RGD		DNA:transitions, transversion, haplotype:cds:g.677C>T, g.1298A>C, g.1793G>A (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:784	chronic kidney disease	susceptibility	ISO	RGD:733483	D	RGD:7244284|PMID:23595572	20130531	RGD		DNA:polymorphism:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:7997	thyrotoxicosis		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18941937
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:7998	hyperthyroidism		IEP		D	RGD:6893690|PMID:7990714	20120918	RGD		protein:increased activity:liver (rat)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:8029	sporadic breast cancer	no_association	ISO	RGD:733483	D	RGD:38501055|PMID:28330681	20200814	RGD		DNA:missense mutations:cds:g.677C>T, g.1298A>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:83	cataract	susceptibility	ISO	RGD:733483	D	RGD:7387253|PMID:16310481	20131024	RGD		DNA:SNPs, haplotype: : 677C>T, 1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:733483	D	RGD:10449408|PMID:17156840	20151229	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:863	nervous system disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:865	vasculitis		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868|PMID:28492532
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:8725	vascular dementia		ISO	RGD:733483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:8736	smallpox	treatment	ISO	RGD:733483	D	RGD:42722608|PMID:18454680	20210303	RGD		DNA:SNP:exon:rs1801133(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:8778	Crohn's disease		ISO	RGD:733483	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:28002332
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:733483	D	RGD:6893525|PMID:9040583	20120905	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17350979
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18505952|PMID:21347786
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9000326	Thrombotic Microangiopathies	susceptibility	ISO	RGD:733483	D	RGD:6893633|PMID:19448163	20120913	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9000343	Vision Disorders		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9000528	Coronary Disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16792904
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9000892	Fetal Distress		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fetal distress	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17704422
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	IEP		D	RGD:11074449|PMID:26180184	20240209	RGD		mRNA:altered expression:hippocampus|hypothalamus (rat)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001542	Albuminuria	susceptibility	ISO	RGD:733483	D	RGD:6893631|PMID:22554825	20120913	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:733483	D	RGD:11554173	20230711	CTD		CTD Direct Evidence: marker/mechanism	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:733483	D	RGD:7240710	20260812	OMIM			
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:733483	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12840091|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24797679|PMID:24908438|PMID:24997712|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27768236|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31870219|PMID:32230794|PMID:32451826|PMID:32612964|PMID:32695297|PMID:33089527|PMID:3347350|PMID:34015165|PMID:3580562|PMID:6381059|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:733483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency	PMID:10551815|PMID:10679944|PMID:10767000|PMID:10923034|PMID:11418485|PMID:11710708|PMID:11781870|PMID:11916316|PMID:11929966|PMID:12196644|PMID:12356947|PMID:12453860|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12915598|PMID:15534175|PMID:15565101|PMID:16199547|PMID:16432849|PMID:16501586|PMID:16870553|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17576681|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18854913|PMID:19031955|PMID:19648163|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21131308|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22695967|PMID:22887477|PMID:22947400|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23526309|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24797679|PMID:24997712|PMID:25007187|PMID:25024447|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27046515|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28241805|PMID:28468868|PMID:28492532|PMID:28696419|PMID:29246599|PMID:29284203|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30212743|PMID:30684021|PMID:31069529|PMID:32005694|PMID:32161077|PMID:32411386|PMID:32451826|PMID:32533987|PMID:32612964|PMID:32695297|PMID:32880657|PMID:33089527|PMID:33125268|PMID:33290257|PMID:33502066|PMID:33571559|PMID:33914258|PMID:34015165|PMID:34214447|PMID:34347262|PMID:34657180|PMID:34845156|PMID:34983810|PMID:35008593|PMID:35018185|PMID:35322348|PMID:3535955|PMID:35359558|PMID:35499206|PMID:35568357|PMID:35578252|PMID:36567323|PMID:37239340|PMID:37291213|PMID:37440674|PMID:37489029|PMID:38610036|PMID:39571660|PMID:40260059|PMID:7647779|PMID:7726158|PMID:7920641|PMID:8837319|PMID:8903338|PMID:8940272|PMID:9133512|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9781030|PMID:9789068|PMID:9798595
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:733483	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency | ClinVar Annotator: match by term: MTHFR-related condition	PMID:10551815|PMID:10679944|PMID:10767000|PMID:10923034|PMID:11916316|PMID:12673793|PMID:12733064|PMID:15534175|PMID:16199547|PMID:16272757|PMID:17409006|PMID:17576681|PMID:18523009|PMID:18854913|PMID:20356773|PMID:20490923|PMID:21131308|PMID:21480888|PMID:21778025|PMID:22695967|PMID:22887477|PMID:22947400|PMID:23526309|PMID:24033266|PMID:24797679|PMID:24997712|PMID:25024447|PMID:25079578|PMID:25162892|PMID:25736335|PMID:25741868|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27046515|PMID:27118298|PMID:27743313|PMID:28241805|PMID:28468868|PMID:28492532|PMID:28645778|PMID:29246599|PMID:29284203|PMID:29391032|PMID:29722429|PMID:30212743|PMID:30687093|PMID:30887117|PMID:31068897|PMID:31069529|PMID:31130284|PMID:31562900|PMID:32005694|PMID:32038468|PMID:32161077|PMID:32289814|PMID:32411386|PMID:32451826|PMID:32533987|PMID:32722525|PMID:32880657|PMID:33000330|PMID:33089527|PMID:33125268|PMID:33290257|PMID:33502066|PMID:33571559|PMID:33914258|PMID:34015165|PMID:34214447|PMID:34347262|PMID:34426522|PMID:34657180|PMID:34707639|PMID:34737766|PMID:34845156|PMID:34983810|PMID:35008593|PMID:35018185|PMID:35322348|PMID:3535955|PMID:35359558|PMID:35499206|PMID:35568357|PMID:35578252|PMID:36567323|PMID:36813871|PMID:37239340|PMID:37291213|PMID:37440674|PMID:37489029|PMID:38610036|PMID:39322052|PMID:39571660|PMID:40260059|PMID:7726158|PMID:7920641|PMID:8940272|PMID:9536098|PMID:9781030
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects		ISO	RGD:733483	D	RGD:11554173	20230711	CTD		CTD Direct Evidence: marker/mechanism	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects		ISO	RGD:733483	D	RGD:7240710	20260812	OMIM			
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects		ISO	RGD:733483	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11916316|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18854913|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20236116|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21131308|PMID:21270786|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22947400|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23526309|PMID:23648444|PMID:24241962|PMID:24797679|PMID:24997712|PMID:25007187|PMID:25024447|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27981572|PMID:27992285|PMID:28241805|PMID:28468868|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29284203|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31069529|PMID:32161077|PMID:32451826|PMID:32612964|PMID:32695297|PMID:32939339|PMID:33089527|PMID:33125268|PMID:3347350|PMID:34015165|PMID:34214447|PMID:34347262|PMID:34845156|PMID:35008593|PMID:35322348|PMID:35499206|PMID:35578252|PMID:36901693|PMID:37489029|PMID:37972026|PMID:39825153|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects		ISO	RGD:733483	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neural tube defects, folate-sensitive	PMID:10679944|PMID:10767000|PMID:15048559|PMID:16199547|PMID:17576681|PMID:20236116|PMID:25079578|PMID:25736335|PMID:25741868|PMID:26872964|PMID:27743313|PMID:28492532|PMID:29246599|PMID:31068897|PMID:33089527|PMID:37972026|PMID:9536098|PMID:9781030
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002165	Diabetic Nephropathies	no_association	ISO	RGD:733483	D	RGD:6893576|PMID:18280442	20120910	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:733483	D	RGD:6893524|PMID:14737040	20120905	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16706930
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17967524
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002557	Inherited Blood Coagulation Disease		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17493413
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002569	Overweight		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:28492532
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15753437
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:733483	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002785	Vitamin B Deficiency		IEP		D	RGD:1359026|PMID:15845641	20251216	RGD		protein:decreased expression, decreased activity:liver	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16284371
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17303386
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:733483	D	RGD:10449399|PMID:25207100	20151228	RGD		DNA:SNP: :677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003505	Venous Thromboembolism	no_association	ISO	RGD:733483	D	RGD:10449399|PMID:25207100	20151228	RGD		DNA:SNP: :677C>T, 1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003758	Banti's Syndrome	susceptibility	ISO	RGD:733483	D	RGD:10755472|PMID:18685811	20190723	RGD		DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003817	Sudden Hearing Loss		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16275406
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003817	Sudden Hearing Loss		ISO	RGD:733483	D	RGD:7387236|PMID:20798492	20131024	RGD		DNA:SNP: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003817	Sudden Hearing Loss	no_association	ISO	RGD:733483	D	RGD:7387240|PMID:16572609	20131024	RGD		DNA:SNP:cds:677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003817	Sudden Hearing Loss	susceptibility	ISO	RGD:733483	D	RGD:7387243|PMID:15775757	20131024	RGD		DNA:SNPs:cds:677C>T,1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19123085
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:733483	D	RGD:1580590|PMID:10929044	19990101	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis	no_association	ISO	RGD:733483	D	RGD:10449394|PMID:12442281	20151228	RGD		DNA:transition: :677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis	no_association	ISO	RGD:733483	D	RGD:6893655|PMID:10792297	20120917	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis	susceptibility	ISO	RGD:733483	D	RGD:6893602|PMID:22707612	20120912	RGD		associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9004538	Hearing Loss	susceptibility	ISO	RGD:733483	D	RGD:7387225|PMID:21385350	20131023	RGD		DNA:SNP:cds:677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9004563	Maxillofacial Abnormalities		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16832597
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9004616	Left Ventricular Hypertrophy	susceptibility	ISO	RGD:733483	D	RGD:14696732|PMID:25664255	20190722	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17389614
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9005236	Drug Eruptions		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14723717
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9005466	Language Development Disorders		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:6893689|PMID:9836532	20120918	RGD		protein:decreased activity:kidney (rat)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9005695	Malnutrition		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16709328
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9005749	Necrosis		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14723717
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006096	Uterine Cervical Dysplasia		ISO	RGD:733483	D	RGD:11554173	20250415	CTD		CTD Direct Evidence: marker/mechanism	PMID:17303386
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:733483	D	RGD:42722609|PMID:19609317	20210303	RGD			
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006262	Cytomegalovirus Infections	ameliorates	ISO	RGD:1551392	D	RGD:42722609|PMID:19609317	20210303	RGD			
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006332	Vascular Calcification	severity	ISO	RGD:733483	D	RGD:6893475|PMID:21394321	20120831	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006474	Arterial Occlusive Diseases		ISO	RGD:733483	D	RGD:10449401|PMID:10477457	20151229	RGD		DNA:SNP: :677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006532	Hematologic Neoplasms	no_association	ISO	RGD:733483	D	RGD:10449413|PMID:21984221	20151229	RGD		DNA:SNP: :677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006532	Hematologic Neoplasms	treatment	ISO	RGD:733483	D	RGD:10449413|PMID:21984221	20151229	RGD		DNA:SNP: :1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:733483	D	RGD:11554173	20260303	CTD		CTD Direct Evidence: marker/mechanism	PMID:15753437|PMID:16166815|PMID:17387702|PMID:17502830|PMID:18551038|PMID:19159907|PMID:19391036|PMID:19821069|PMID:21064136|PMID:25007187|PMID:26077125|PMID:40645457
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18551038|PMID:19648163
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:733483	D	RGD:14696733|PMID:30545275	20190722	RGD		associated with precursor lymphoblastic lymphoma/leukemia; DNA:SNP: :677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007456	Female Infertility		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16679164
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007479	Habitual Abortions		ISO	RGD:733483	D	RGD:10449404|PMID:22047507	20151229	RGD		DNA:SNPs: :677C>T, 1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007479	Habitual Abortions		ISO	RGD:733483	D	RGD:10449415|PMID:22882325	20151229	RGD		DNA:SNPs: :677C>T, 1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007479	Habitual Abortions	no_association	ISO	RGD:733483	D	RGD:10449411|PMID:19906129	20151229	RGD		DNA:SNP: :1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007573	Flatfoot		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007617	Conotruncal Cardiac Defects	no_association	ISO	RGD:733483	D	RGD:11565174|PMID:12705333	20161122	RGD		DNA:SNPs:cds:c.677C>T,c.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007661	Dwarfism		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17301261
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24384392
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008114	Helicobacter Infections	susceptibility	ISO	RGD:733483	D	RGD:38501056|PMID:23183616	20200814	RGD		associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008114	Helicobacter Infections	susceptibility	ISO	RGD:733483	D	RGD:38501057|PMID:20957490	20200814	RGD		associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008214	Genu Valgum		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:733483	D	RGD:11554173	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15608557|PMID:16512993|PMID:16985020|PMID:17047490|PMID:17087956|PMID:17245555|PMID:17350979|PMID:18676755|PMID:26858257
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008675	Dyskinesias		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:28492532
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008887	Microvascular Angina		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17491230
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008887	Microvascular Angina		ISO	RGD:733483	D	RGD:4891159|PMID:17491230	20110110	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733483	D	RGD:11554173	20200317	CTD		CTD Direct Evidence: marker/mechanism	PMID:16777985|PMID:17595805|PMID:28114181
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:25736335|PMID:25741868|PMID:28492532
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733483	D	RGD:10449408|PMID:17156840	20151229	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:916	liver benign neoplasm	onset	IEP		D	RGD:6893663|PMID:22213190	20120917	RGD		mRNA:decreased expression:liver (rat)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733483	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733483	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25741868|PMID:25741905|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:11418485|PMID:11710708|PMID:11781870|PMID:11929966|PMID:12196644|PMID:12356947|PMID:12453860|PMID:12560871|PMID:12915598|PMID:15565101|PMID:16432849|PMID:16501586|PMID:16870553|PMID:17436239|PMID:17488658|PMID:17512587|PMID:18381794|PMID:18458567|PMID:19031955|PMID:19648163|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7647779|PMID:8837319|PMID:8903338|PMID:9133512|PMID:9545395|PMID:9545406|PMID:9789068|PMID:9798595
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10459572|PMID:15226090|PMID:16317120|PMID:16397167|PMID:16411416|PMID:16575899|PMID:17387702|PMID:18234410|PMID:18551038|PMID:19204075|PMID:19646848
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:733483	D	RGD:1601421|PMID:10679944	20120828	RGD		DNA:missense mutations, nonsense mutations:CDS:multiple (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9279	hyperhomocysteinemia	treatment	ISO	RGD:733483	D	RGD:10449400|PMID:12471611	20151228	RGD		associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9296	cleft lip		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16470725
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9296	cleft lip	susceptibility	ISO	RGD:733483	D	RGD:11565179|PMID:27387868	20161122	RGD		DNA:polymorphism: :c.677C>T(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9351	diabetes mellitus	no_association	ISO	RGD:733483	D	RGD:38501049|PMID:9607212	20200813	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:733483	D	RGD:6893653|PMID:19996639	20120917	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:733483	D	RGD:6893476|PMID:21186995	20120831	RGD		DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:733483	D	RGD:6893657|PMID:16828193	20120917	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:936	brain disease		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9406	hypopituitarism		ISO	RGD:733483	D	RGD:10449406|PMID:21107737	20151229	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9452	steatotic liver disease		ISO	RGD:733483	D	RGD:1580580|PMID:15834927	19990101	RGD		associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9477	pulmonary embolism		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19123085
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9538	multiple myeloma		ISO	RGD:733483	D	RGD:10449397|PMID:24839819	20151228	RGD		DNA:missense mutations:cds:677C>T, 1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9663	aphthous stomatitis	severity	ISO	RGD:733483	D	RGD:10449402|PMID:23665953	20151229	RGD		DNA:missense mutation:cds:677C>T (rs1801133) (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9744	type 1 diabetes mellitus	severity	ISO	RGD:733483	D	RGD:6893652|PMID:18774994	20120917	RGD		DNA:transversion:cds:g.1298A>C (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9849	Meniere's disease	susceptibility	ISO	RGD:733483	D	RGD:7387223|PMID:23484733	20131023	RGD		DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:987	alopecia		ISO	RGD:733483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18381794
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:733483	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:16706930
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:733483	D	RGD:10449398|PMID:19923983	20151228	RGD		DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)	
1309952	Mthfr	methylenetetrahydrofolate reductase	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:733483	D	RGD:10449407|PMID:21644011	20151229	RGD		DNA:missense mutation:cds:677C>T (human)	
1309953	Tgs1	trimethylguanosine synthase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309953	Tgs1	trimethylguanosine synthase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1320573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309953	Tgs1	trimethylguanosine synthase 1	gene	DOID:1324	lung cancer		ISO	RGD:1320573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309953	Tgs1	trimethylguanosine synthase 1	gene	DOID:1909	melanoma		ISO	RGD:1320573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309953	Tgs1	trimethylguanosine synthase 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1320573	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1309953	Tgs1	trimethylguanosine synthase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320573	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309953	Tgs1	trimethylguanosine synthase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309953	Tgs1	trimethylguanosine synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309953	Tgs1	trimethylguanosine synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309953	Tgs1	trimethylguanosine synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309953	Tgs1	trimethylguanosine synthase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1320573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309954	Pon2	paraoxonase 2	gene	DOID:0051061	stroke		ISO	RGD:1320575	D	RGD:1642614|PMID:17406108	20071003	RGD		large vessel disease (LVD) stroke;DNA:missense mutation:cds:p.C311S (human)	
1309954	Pon2	paraoxonase 2	gene	DOID:0051061	stroke		ISO	RGD:1320575	D	RGD:2313491|PMID:12778447	20090929	RGD		associated with type 2 diabetes mellitus;DNA:missense mutation:cds:p.S311C (human)	
1309954	Pon2	paraoxonase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320575	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1309954	Pon2	paraoxonase 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	IEP		D	RGD:8661257|PMID:22536512	20140610	RGD			
1309954	Pon2	paraoxonase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1320575	D	RGD:1580219|PMID:11803456	19990101	RGD		DNA:missense mutation:cds:p.C311S (human)	
1309954	Pon2	paraoxonase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1320575	D	RGD:5509926|PMID:16319130	20111111	RGD		DNA:SNPs:multiple	
1309954	Pon2	paraoxonase 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1320575	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19152805
1309954	Pon2	paraoxonase 2	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1320575	D	RGD:1642625|PMID:16776623	20071004	RGD		DNA:missense mutation:cds:p.S311C (human)	
1309954	Pon2	paraoxonase 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1320575	D	RGD:5509925|PMID:16822964	20111111	RGD		DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 (human)	
1309954	Pon2	paraoxonase 2	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:1320575	D	RGD:1580217|PMID:12454802	19990101	RGD		DNA:missense mutation:cds:p.C311S (human)	
1309954	Pon2	paraoxonase 2	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:1320575	D	RGD:401794454|PMID:20458436	20230829	RGD		DNA:SNPs,haplotypes: (rs11545941, rs6954345) (human)	
1309954	Pon2	paraoxonase 2	gene	DOID:8725	vascular dementia		ISO	RGD:1320575	D	RGD:1580219|PMID:11803456	19990101	RGD		DNA:missense mutation:cds:p.C311S (human)	
1309954	Pon2	paraoxonase 2	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1320575	D	RGD:1580216|PMID:9443862	19990101	RGD		DNA:missense mutation:cds:p.C311S (human)	
1309954	Pon2	paraoxonase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1320575	D	RGD:1580218|PMID:11918623	19990101	RGD		associated with type 1 diabetes mellitus;DNA:missense mutation:cds:p.C311S (human)	
1309954	Pon2	paraoxonase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1320575	D	RGD:2313492|PMID:11206400	20090929	RGD		associated with type 2 diabetes mellitus;DNA:polymorphisms:multiple	
1309954	Pon2	paraoxonase 2	gene	DOID:9002910	Hearing Loss, Noise-Induced	susceptibility	ISO	RGD:1320575	D	RGD:8661240|PMID:23327886	20140610	RGD		DNA:SNPs: :multiple	
1309954	Pon2	paraoxonase 2	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:1320575	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16030523
1309954	Pon2	paraoxonase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1320575	D	RGD:2313490|PMID:18776646	20090929	RGD		DNA:missense mutation:cds:p.S311C (human)	
1309954	Pon2	paraoxonase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1320575	D	RGD:8547560|PMID:10677395	20140610	RGD		associated with Diabetic Retinopathy;DNA:missense mutation:cds:p.C310S (human)	
1309954	Pon2	paraoxonase 2	gene	DOID:9970	obesity		IEP		D	RGD:8661255|PMID:21365757	20140610	RGD		protein:increased expression:white adipose tissue	
1309955	Senp8	SUMO peptidase family member, NEDD8 specific	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320576	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1309955	Senp8	SUMO peptidase family member, NEDD8 specific	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309956	Nuak1	NUAK family kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309956	Nuak1	NUAK family kinase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1605098	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1309956	Nuak1	NUAK family kinase 1	gene	DOID:13223	uterine fibroid		ISO	RGD:1605098	D	RGD:401851920|PMID:23818951	20231031	RGD		DNA:hypermethylation:uterus (human)	
1309956	Nuak1	NUAK family kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309956	Nuak1	NUAK family kinase 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1605098	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588|PMID:26873845
1309956	Nuak1	NUAK family kinase 1	gene	DOID:9538	multiple myeloma		ISO	RGD:1605098	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:26873845
1309957	Utp18	UTP18 small subunit processome component	gene	DOID:10534	stomach cancer		ISO	RGD:1349005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309957	Utp18	UTP18 small subunit processome component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309957	Utp18	UTP18 small subunit processome component	gene	DOID:1115	sarcoma		ISO	RGD:1349005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309957	Utp18	UTP18 small subunit processome component	gene	DOID:1324	lung cancer		ISO	RGD:1349005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309957	Utp18	UTP18 small subunit processome component	gene	DOID:1909	melanoma		ISO	RGD:1349005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309957	Utp18	UTP18 small subunit processome component	gene	DOID:4362	cervical cancer		ISO	RGD:1349005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309957	Utp18	UTP18 small subunit processome component	gene	DOID:5041	esophageal cancer		ISO	RGD:1349005	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309957	Utp18	UTP18 small subunit processome component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309957	Utp18	UTP18 small subunit processome component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309957	Utp18	UTP18 small subunit processome component	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1309957	Utp18	UTP18 small subunit processome component	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1349005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1309957	Utp18	UTP18 small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309957	Utp18	UTP18 small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309957	Utp18	UTP18 small subunit processome component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309958	Rab6b	RAB6B, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309958	Rab6b	RAB6B, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309958	Rab6b	RAB6B, member RAS oncogene family	gene	DOID:0060058	lymphoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309958	Rab6b	RAB6B, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309958	Rab6b	RAB6B, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309958	Rab6b	RAB6B, member RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309958	Rab6b	RAB6B, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309958	Rab6b	RAB6B, member RAS oncogene family	gene	DOID:5041	esophageal cancer		ISO	RGD:1320580	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309958	Rab6b	RAB6B, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309958	Rab6b	RAB6B, member RAS oncogene family	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309958	Rab6b	RAB6B, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309959	Tada2a	transcriptional adaptor 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309959	Tada2a	transcriptional adaptor 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1320582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309959	Tada2a	transcriptional adaptor 2A	gene	DOID:1115	sarcoma		ISO	RGD:1320582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309959	Tada2a	transcriptional adaptor 2A	gene	DOID:1324	lung cancer		ISO	RGD:1320582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309959	Tada2a	transcriptional adaptor 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1320582	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309959	Tada2a	transcriptional adaptor 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309959	Tada2a	transcriptional adaptor 2A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309959	Tada2a	transcriptional adaptor 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309959	Tada2a	transcriptional adaptor 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309959	Tada2a	transcriptional adaptor 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309961	Arrdc1	arrestin domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309961	Arrdc1	arrestin domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1320585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309961	Arrdc1	arrestin domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309961	Arrdc1	arrestin domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309961	Arrdc1	arrestin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309961	Arrdc1	arrestin domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309961	Arrdc1	arrestin domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309965	Tbcb	tubulin folding cofactor B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309965	Tbcb	tubulin folding cofactor B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309965	Tbcb	tubulin folding cofactor B	gene	DOID:0070718	neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia		ISO	RGD:1320593	D	RGD:7240710	20260603	OMIM			
1309965	Tbcb	tubulin folding cofactor B	gene	DOID:0070718	neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia		ISO	RGD:1320593	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CHILDHOOD-ONSET SPASTIC PARAPLEGIA	
1309965	Tbcb	tubulin folding cofactor B	gene	DOID:10534	stomach cancer		ISO	RGD:1320593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309965	Tbcb	tubulin folding cofactor B	gene	DOID:4362	cervical cancer		ISO	RGD:1320593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309965	Tbcb	tubulin folding cofactor B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309965	Tbcb	tubulin folding cofactor B	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1320593	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005
1309965	Tbcb	tubulin folding cofactor B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309965	Tbcb	tubulin folding cofactor B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309966	Mcee	methylmalonyl CoA epimerase	gene	DOID:0060019	coronin-1A deficiency		ISO	RGD:1320595	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 8	PMID:17823972|PMID:25073507|PMID:28492532
1309966	Mcee	methylmalonyl CoA epimerase	gene	DOID:1115	sarcoma		ISO	RGD:1320595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309966	Mcee	methylmalonyl CoA epimerase	gene	DOID:1324	lung cancer		ISO	RGD:1320595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309966	Mcee	methylmalonyl CoA epimerase	gene	DOID:5041	esophageal cancer		ISO	RGD:1320595	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309966	Mcee	methylmalonyl CoA epimerase	gene	DOID:630	genetic disease		ISO	RGD:1320595	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309966	Mcee	methylmalonyl CoA epimerase	gene	DOID:9000454	Methylmalonyl-CoA Epimerase Deficiency		ISO	RGD:1320595	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309966	Mcee	methylmalonyl CoA epimerase	gene	DOID:9000454	Methylmalonyl-CoA Epimerase Deficiency		ISO	RGD:1320595	D	RGD:7240710	20130221	OMIM			
1309966	Mcee	methylmalonyl CoA epimerase	gene	DOID:9000454	Methylmalonyl-CoA Epimerase Deficiency		ISO	RGD:1320595	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MCEE-related condition | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III | ClinVar Annotator: match by term: METHYLMALONYL-CoA EPIMERASE DEFICIENCY | ClinVar Annotator: match by term: Methylmalonyl-CoA epimerase deficiency	PMID:16697227|PMID:16752391|PMID:17823972|PMID:24033266|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325
1309966	Mcee	methylmalonyl CoA epimerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309967	Limd2	LIM domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309967	Limd2	LIM domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309967	Limd2	LIM domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309967	Limd2	LIM domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309967	Limd2	LIM domain containing 2	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1603297	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18925433
1309967	Limd2	LIM domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309967	Limd2	LIM domain containing 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1603297	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18925433
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:0060249	scoliosis		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:33879512
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:0070133	autosomal recessive cutis laxa type IB		ISO	RGD:1320598	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B	PMID:25741868
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:0110347	osteogenesis imperfecta type 15		ISO	RGD:1320598	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta type 15	PMID:25741868
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:14755501|PMID:25741868|PMID:28492532|PMID:33879512|PMID:38764721
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:10579	leukodystrophy		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868|PMID:26789422|PMID:28492532|PMID:34426522|PMID:34946936|PMID:36628840
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:1115	sarcoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:11162	respiratory failure		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:12215	oligohydramnios		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28492532|PMID:33879512
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:1307	dementia		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:25741868|PMID:26789422|PMID:28492532|PMID:34426522|PMID:34946936|PMID:36628840
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:1324	lung cancer		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:1826	epilepsy		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:1909	melanoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2747	glycogen storage disease		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease	PMID:15452297|PMID:16199547|PMID:19813197|PMID:20058079|PMID:22305237|PMID:23218673|PMID:23352160|PMID:24033266|PMID:25489661|PMID:25741868|PMID:26166723|PMID:26886200|PMID:28492532|PMID:28507268|PMID:29379554|PMID:30569318|PMID:31131953|PMID:31980526|PMID:35627109|PMID:38012812
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2750	glycogen storage disease IV		ISO	RGD:1320598	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2750	glycogen storage disease IV		ISO	RGD:1320598	D	RGD:1601279|PMID:8613547	20070413	RGD		DNA:deletion,DNA:point mutations:Y329S,L224P,R515C,F257L,R524X	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2750	glycogen storage disease IV		ISO	RGD:1320598	D	RGD:7240710	20130221	OMIM			
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2750	glycogen storage disease IV		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GBE1-Related Disorders | ClinVar Annotator: match by term: GBE1-related disorder | ClinVar Annotator: match by term: Glycogen storage disease IV | ClinVar Annotator: match by term: Glycogen storage disease due to glycogen branching enzyme deficiency | ClinVar Annotator: match by term: Glycogen storage disease type IV | ClinVar Annotator: match by term: Glycogen storage disease, type IV	PMID:10545044|PMID:10762170|PMID:12874416|PMID:12913206|PMID:14755501|PMID:15019703|PMID:15452297|PMID:15520786|PMID:16199547|PMID:16278887|PMID:16528737|PMID:16874838|PMID:17576681|PMID:17662246|PMID:17994551|PMID:18230843|PMID:18661138|PMID:19763152|PMID:19813197|PMID:20058079|PMID:20301758|PMID:20307669|PMID:20479904|PMID:20532556|PMID:20655781|PMID:21075835|PMID:21917543|PMID:22305237|PMID:22406018|PMID:22899091|PMID:23014386|PMID:23034915|PMID:23218673|PMID:23266647|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25356970|PMID:25544507|PMID:25640679|PMID:25665141|PMID:25728520|PMID:25741868|PMID:26199317|PMID:26385640|PMID:26789422|PMID:26886200|PMID:27107456|PMID:27243974|PMID:27528516|PMID:27546458|PMID:28492532|PMID:28716262|PMID:28973083|PMID:29379554|PMID:30228975|PMID:30293248|PMID:30303820|PMID:30311141|PMID:30345254|PMID:30569318|PMID:31127727|PMID:31207142|PMID:31209396|PMID:31319225|PMID:31589614|PMID:31680123|PMID:31690835|PMID:31747834|PMID:31974414|PMID:31980526|PMID:32153140|PMID:32617483|PMID:32746448|PMID:33060286|PMID:33141444|PMID:33332610|PMID:33344388|PMID:33348688|PMID:33517539|PMID:33726816|PMID:33772059|PMID:33782433|PMID:33879512|PMID:33897756|PMID:34297361|PMID:34426522|PMID:34906519|PMID:34946936|PMID:35606495|PMID:36628840|PMID:36690925|PMID:36697461|PMID:36703223|PMID:36830903|PMID:37152446|PMID:37273706|PMID:37510298|PMID:37598009|PMID:37628374|PMID:38012812|PMID:38164512|PMID:38516405|PMID:38545656|PMID:38592052|PMID:38764721|PMID:38912588|PMID:39825153|PMID:40812839|PMID:41308240|PMID:8613547|PMID:9536098|PMID:9851430
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2750	glycogen storage disease IV		ISS	RGD:1320599	D	RGD:13592920	20230718	MouseDO		OMIM:232500	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2841	asthma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1320598	D	RGD:18337291|PMID:28355295	20200121	RGD		DNA:SNP:intron:rs2307058 (human)	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2975	cystic kidney disease		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868|PMID:28492532|PMID:33782433
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:3275	thymoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:630	genetic disease		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14755501|PMID:25741868|PMID:28492532|PMID:33782433|PMID:38764721
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:674	cleft palate		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:28492532|PMID:33879512
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9000820	GSD IV, Classic Hepatic		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GSD IV, CLASSIC HEPATIC	PMID:14755501|PMID:16528737|PMID:17576681|PMID:25741868|PMID:26789422|PMID:28492532|PMID:33782433|PMID:33879512|PMID:34426522|PMID:34946936|PMID:36628840|PMID:38764721|PMID:8613547|PMID:9536098
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9001716	Hip Contracture		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip contracture	PMID:25741868|PMID:28492532|PMID:33879512
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868|PMID:28492532|PMID:33782433
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532|PMID:33879512
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9006655	GSD IV, Neuromuscular Form, Fatal Perinatal		ISO	RGD:1320598	D	RGD:18337290|PMID:30303820	20200121	RGD		DNA:missense mutations, nonsense mutation, splice site mutation:exons, intron: multiple	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9006846	Dysuria		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysuria	PMID:14755501|PMID:25741868|PMID:28492532|PMID:38764721
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:14755501|PMID:25741868|PMID:28492532|PMID:38764721
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9006915	GSD IV, combined hepatic and myopathic		ISO	RGD:1320598	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9007497	Polyglucosan Body Disease, Adult Form		ISO	RGD:1320598	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9007497	Polyglucosan Body Disease, Adult Form		ISO	RGD:1320598	D	RGD:7240710	20141015	OMIM			
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9007497	Polyglucosan Body Disease, Adult Form		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adult Polyglucosan Body Disease | ClinVar Annotator: match by term: Adult polyglucosan body disease | ClinVar Annotator: match by term: POLYGLUCOSAN BODY DISEASE, ADULT FORM | ClinVar Annotator: match by term: Polyglucosan body disease, adult form	PMID:10545044|PMID:10762170|PMID:12874416|PMID:14755501|PMID:15452297|PMID:16199547|PMID:16528737|PMID:17576681|PMID:20058079|PMID:20479904|PMID:25665141|PMID:25741868|PMID:26199317|PMID:26789422|PMID:26886200|PMID:27243974|PMID:27546458|PMID:28492532|PMID:30303820|PMID:33332610|PMID:33473341|PMID:33782433|PMID:33879512|PMID:34426522|PMID:34946936|PMID:36628840|PMID:37598009|PMID:38764721|PMID:8613547|PMID:9536098
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9007811	Familial Cirrhosis with Deposition of Abnormal Glycogen		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen	PMID:16528737|PMID:17576681|PMID:25741868|PMID:26789422|PMID:28492532|PMID:33782433|PMID:33879512|PMID:34426522|PMID:34946936|PMID:36628840|PMID:8613547|PMID:9536098
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:33782433
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9008858	Arthrogryposis, Impaired Intellectual Development, and Seizures		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis syndrome	PMID:25741868|PMID:28492532|PMID:33879512
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309968	Gbe1	1,4-alpha-glucan branching enzyme 1	gene	DOID:936	brain disease		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
1309969	Prr5l	proline rich 5 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605618	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309969	Prr5l	proline rich 5 like	gene	DOID:10534	stomach cancer		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309969	Prr5l	proline rich 5 like	gene	DOID:1324	lung cancer		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309969	Prr5l	proline rich 5 like	gene	DOID:3275	thymoma		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309969	Prr5l	proline rich 5 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309969	Prr5l	proline rich 5 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309969	Prr5l	proline rich 5 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1320601	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20180811
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:0060180	colitis		ISO	RGD:1320602	D	RGD:5687963|PMID:15309552	20120215	RGD		protein:increased expression:colon, epithelial cell (mouse)	
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:1115	sarcoma		ISO	RGD:1320601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:14330	Parkinson's disease		ISO	RGD:1320601	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16510128
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:14330	Parkinson's disease		ISO	RGD:1320602	D	RGD:5687772|PMID:20964710	20120214	RGD		mRNA:increased expression:striatum (mouse)	
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:2349	arteriosclerosis		ISO	RGD:1320601	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15064094|PMID:20177342
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1320601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:5687769|PMID:22160604	20120214	RGD		mRNA:increased expression:lumbar segment of spinal cord (rat)	
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	IDA		D	RGD:9685568|PMID:23075396	20151009	RGD			
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:5687773|PMID:14693714	20120214	RGD		protein:increased expression:pancreas, kidney, liver (rat)	
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1320601	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:9007417	Pseudomonas Infections	susceptibility	ISO	RGD:1320602	D	RGD:5687774|PMID:22038048	20120214	RGD			
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1320601	D	RGD:5687771|PMID:20150287	20120214	RGD		mRNA:decreased expression:omental fat pad, subcutaneous adipose tissue (human)	
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:9007730	Burns		ISO	RGD:1320601	D	RGD:5687774|PMID:22038048	20120214	RGD		mRNA:altered expression:fat, muscle, skin (human)	
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:9007730	Burns		ISO	RGD:1320602	D	RGD:5687774|PMID:22038048	20120214	RGD		mRNA:decreased expression:gastrocnemius muscle (mouse)	
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:9008691	Liver Injury		IEP		D	RGD:10401911|PMID:23159886	20151009	RGD		mRNA, protein:increased expression:liver	
1309970	Gsta4	glutathione S-transferase alpha 4	gene	DOID:9970	obesity		ISO	RGD:1320602	D	RGD:5687771|PMID:20150287	20120214	RGD		mRNA:decreased expression:gonadal fat pad (mouse)	
1309971	Slc45a4	solute carrier family 45, member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309971	Slc45a4	solute carrier family 45, member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309971	Slc45a4	solute carrier family 45, member 4	gene	DOID:1115	sarcoma		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309971	Slc45a4	solute carrier family 45, member 4	gene	DOID:1324	lung cancer		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309971	Slc45a4	solute carrier family 45, member 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309971	Slc45a4	solute carrier family 45, member 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309971	Slc45a4	solute carrier family 45, member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309971	Slc45a4	solute carrier family 45, member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309971	Slc45a4	solute carrier family 45, member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309971	Slc45a4	solute carrier family 45, member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309973	Fam174a	family with sequence similarity 174, member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309973	Fam174a	family with sequence similarity 174, member A	gene	DOID:4362	cervical cancer		ISO	RGD:1601696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309973	Fam174a	family with sequence similarity 174, member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1601696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309973	Fam174a	family with sequence similarity 174, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309973	Fam174a	family with sequence similarity 174, member A	gene	DOID:6039	uveal melanoma		ISO	RGD:1601696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1309973	Fam174a	family with sequence similarity 174, member A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601696	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1309975	Tlr1	toll-like receptor 1	gene	DOID:1024	leprosy		ISO	RGD:1320607	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1309975	Tlr1	toll-like receptor 1	gene	DOID:1024	leprosy		ISO	RGD:1320607	D	RGD:7240710	20260812	OMIM			
1309975	Tlr1	toll-like receptor 1	gene	DOID:1024	leprosy		ISO	RGD:1320607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TLR1-related condition	PMID:25741868|PMID:28492532
1309975	Tlr1	toll-like receptor 1	gene	DOID:1024	leprosy	susceptibility	ISO	RGD:1320607	D	RGD:7246917|PMID:17548585	20130624	RGD		DNA:snp:cds:p.I602S (human)	
1309975	Tlr1	toll-like receptor 1	gene	DOID:11400	pyelonephritis	susceptibility	ISO	RGD:1320607	D	RGD:7246906|PMID:19543401	20130621	RGD		DNA:snp:cds:p.S602I (human)	
1309975	Tlr1	toll-like receptor 1	gene	DOID:13564	aspergillosis	susceptibility	ISO	RGD:1320607	D	RGD:4889535|PMID:16461792	20101203	RGD		DNA:SNPs: :p.R80T, p.N248S (human)	
1309975	Tlr1	toll-like receptor 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1320607	D	RGD:4889528|PMID:18547625	20101203	RGD		DNA:SNP (human)	
1309975	Tlr1	toll-like receptor 1	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:1320608	D	RGD:7246909|PMID:18256364	20130621	RGD		mRNA:increased expression:renal glomerulus (mouse)	
1309975	Tlr1	toll-like receptor 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1320607	D	RGD:4889525|PMID:16493059	20101203	RGD		mRNA:increased expression:blood	
1309975	Tlr1	toll-like receptor 1	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1320607	D	RGD:630350413|PMID:37051380	20260113	RGD		DNA:SNPs:intron, exon:rs5743557, rs4833095, rs5743596	
1309975	Tlr1	toll-like receptor 1	gene	DOID:2986	IgA glomerulonephritis	susceptibility	ISO	RGD:1320607	D	RGD:7246898|PMID:21108742	20130620	RGD		DNA:snps:promoter, cds:g.-414C>T, p.N248S (rs5743557, rs4833095) (human)	
1309975	Tlr1	toll-like receptor 1	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:1320607	D	RGD:7246918|PMID:18091991	20130621	RGD		DNA:snps, haplotype:cds:p.N248S, p.S602I (human)	
1309975	Tlr1	toll-like receptor 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1320607	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:32594150
1309975	Tlr1	toll-like receptor 1	gene	DOID:8677	perinatal necrotizing enterocolitis		IEP		D	RGD:5128779|PMID:19608731	20101203	RGD		mRNA:increased expression:ileum	
1309975	Tlr1	toll-like receptor 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1320608	D	RGD:7246886|PMID:21970496	20130619	RGD		mRNA:increased expression:spinal cord (mouse)	
1309975	Tlr1	toll-like receptor 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1320608	D	RGD:7246886|PMID:21970496	20130619	RGD			
1309975	Tlr1	toll-like receptor 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1320607	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
1309975	Tlr1	toll-like receptor 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1320607	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18466103
1309975	Tlr1	toll-like receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309975	Tlr1	toll-like receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1350674	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:0060249	scoliosis		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:0060260	ptosis		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:0070297	primary microcephaly		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:0080833	laryngomalacia		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:30167850
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:1059	intellectual disability		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:26708751|PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:10907	microcephaly		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:11162	respiratory failure		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:11830	myopia		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:26545877|PMID:26708751|PMID:26708753|PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:11836	clubfoot		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:30167850
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:12849	autistic disorder		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:1826	epilepsy		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:16199547|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:1909	melanoma		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:2030	anxiety disorder		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:2340	craniosynostosis		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:2841	asthma		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:3488	cellulitis		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cellulitis	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:480	movement disease		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:16199547|PMID:25741868|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:540	strabismus		ISO	RGD:1350674	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus | ClinVar Annotator: match by term: strabismus	PMID:25741868
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:543	dystonia		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:5723	optic atrophy		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:630	genetic disease		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:25741868|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28191889|PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9000343	Vision Disorders		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9000590	Dyspnea		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9000831	Hypokinesia		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypokinesia	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9000999	Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2		ISO	RGD:1350674	D	RGD:11528248|PMID:26545877	20170712	RGD		DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human)	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9000999	Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2		ISO	RGD:1350674	D	RGD:7240710	20190315	OMIM			
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9000999	Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2		ISO	RGD:1350674	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 | ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-Related Disorder | ClinVar Annotator: match by term: UNC80-related condition	PMID:16199547|PMID:17576681|PMID:25741868|PMID:25741873|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28191889|PMID:28492532|PMID:29158550|PMID:29430593|PMID:30167850|PMID:30771478|PMID:31130284|PMID:31589614|PMID:31607746|PMID:31839005|PMID:32712949|PMID:9536098
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9001031	Retrognathia		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9001581	Constipation		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9002554	Tachycardia		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9003816	Macrocephaly		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9004898	Jaundice		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:25741868|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9005616	Micrognathism		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9006603	Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies	PMID:24033266|PMID:25741868|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28492532|PMID:30609409|PMID:31589614
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9006617	Fatigue		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868|PMID:30167850
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350674	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9220	central sleep apnea		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central apnea	
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:936	brain disease		ISO	RGD:1350674	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:26708751|PMID:26708753|PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9649	congenital nystagmus		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:28492532
1309976	Unc80	unc-80 subunit of NALCN channel complex	gene	DOID:9840	esotropia		ISO	RGD:1350674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
1309977	Mon1b	MON1 vesicular trafficking associated B	gene	DOID:10534	stomach cancer		ISO	RGD:1605088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309977	Mon1b	MON1 vesicular trafficking associated B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309977	Mon1b	MON1 vesicular trafficking associated B	gene	DOID:3070	high grade glioma		ISO	RGD:1605088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309977	Mon1b	MON1 vesicular trafficking associated B	gene	DOID:5041	esophageal cancer		ISO	RGD:1605088	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309977	Mon1b	MON1 vesicular trafficking associated B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309977	Mon1b	MON1 vesicular trafficking associated B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:0080435	developmental and epileptic encephalopathy 37		ISO	RGD:1346527	D	RGD:7240710	20190315	OMIM			
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:0080435	developmental and epileptic encephalopathy 37		ISO	RGD:1346527	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23056405|PMID:25741868|PMID:27236917|PMID:27239025|PMID:28492532|PMID:28675162|PMID:30525197|PMID:30692144|PMID:32928027|PMID:34483011|PMID:35815844|PMID:9536098
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:0080435	developmental and epileptic encephalopathy 37		ISS	RGD:2302587	D	RGD:13592920	20250320	MouseDO		OMIM:616981	
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1346527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:23056405|PMID:25741868|PMID:27236917|PMID:28492532|PMID:32928027
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:1059	intellectual disability		ISO	RGD:1346527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23056405|PMID:25741868|PMID:27236917|PMID:28492532|PMID:32928027
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:11111	hydronephrosis		ISO	RGD:1346527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:23056405|PMID:25741868|PMID:27236917|PMID:28492532|PMID:32928027
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:12849	autistic disorder		ISO	RGD:1346527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:23056405|PMID:25741868|PMID:27236917|PMID:28492532|PMID:32928027
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:12859	choreatic disease		ISO	RGD:1346527	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Choreiform movements	PMID:23056405|PMID:25741868|PMID:27236917|PMID:28492532|PMID:32928027
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:1826	epilepsy		ISO	RGD:1346527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:23056405|PMID:25741868|PMID:27236917|PMID:28492532|PMID:32928027
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:4362	cervical cancer		ISO	RGD:1346527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:630	genetic disease		ISO	RGD:1346527	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23056405|PMID:25741868|PMID:27236917|PMID:28492532|PMID:32928027
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1346527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:23056405|PMID:25741868|PMID:27236917|PMID:28492532|PMID:32928027
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1346527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:23056405|PMID:25741868|PMID:27236917|PMID:28492532|PMID:32928027
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: muscular hypotonia	PMID:23056405|PMID:25741868|PMID:27236917|PMID:28492532|PMID:32928027
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:9006846	Dysuria		ISO	RGD:1346527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysuria	PMID:23056405|PMID:25741868|PMID:27236917|PMID:28492532|PMID:32928027
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23056405|PMID:25741868|PMID:27236917|PMID:28492532|PMID:32928027
1309978	Frrs1l	ferric-chelate reductase 1-like	gene	DOID:9008675	Dyskinesias		ISO	RGD:1346527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:23056405|PMID:25741868|PMID:27236917|PMID:28492532|PMID:32928027
1309979	Ddrgk1	DDRGK domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309979	Ddrgk1	DDRGK domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309979	Ddrgk1	DDRGK domain containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1320614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309979	Ddrgk1	DDRGK domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1320614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309979	Ddrgk1	DDRGK domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1320614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309979	Ddrgk1	DDRGK domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309979	Ddrgk1	DDRGK domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1320614	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1309979	Ddrgk1	DDRGK domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309979	Ddrgk1	DDRGK domain containing 1	gene	DOID:9006563	Spondyloepimetaphyseal Dysplasia, Shohat Type		ISO	RGD:1320614	D	RGD:7240710	20190315	OMIM			
1309979	Ddrgk1	DDRGK domain containing 1	gene	DOID:9006563	Spondyloepimetaphyseal Dysplasia, Shohat Type		ISO	RGD:1320614	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DDRGK1-related condition | ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE	PMID:25741868|PMID:28492532
1309979	Ddrgk1	DDRGK domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309979	Ddrgk1	DDRGK domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1320615	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25533962|PMID:25741868|PMID:26739615
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:0050581	brachydactyly		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:21518873|PMID:26077850|PMID:26942287|PMID:9862965
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320615	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1320616	D	RGD:13592920	20240404	MouseDO			
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:0060249	scoliosis		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:31782611
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:0060320	inguinal hernia		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:21518873|PMID:26077850|PMID:26942287|PMID:9862965
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:0061011	craniosynostosis 3		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coronal craniosynostosis	PMID:25533962|PMID:25741868|PMID:26739615
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:0070067	White-Sutton syndrome		ISO	RGD:1320615	D	RGD:7240710	20170419	OMIM			
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:0070067	White-Sutton syndrome		ISO	RGD:1320615	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition | ClinVar Annotator: match by term: WHITE-SUTTON SYNDROME | ClinVar Annotator: match by term: White-Sutton syndrome | ClinVar Annotator: match by term: White-sutton syndrome | ClinVar Annotator: match by term: intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	PMID:24463507|PMID:24896178|PMID:25533962|PMID:25741868|PMID:26739615|PMID:26942287|PMID:28492532|PMID:29758562|PMID:31782611|PMID:31981491|PMID:33004838|PMID:33098347|PMID:33277917|PMID:33377604|PMID:34529370|PMID:34645992|PMID:35052493|PMID:35821784|PMID:35873028|PMID:35887114|PMID:39553561
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: sensorineural hearing loss disorder	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:1059	intellectual disability		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:26077850|PMID:27148570|PMID:28492532|PMID:31782611|PMID:33277917
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:10907	microcephaly		ISO	RGD:1320615	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25533962|PMID:25741868|PMID:26739615
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:1143	exotropia		ISO	RGD:1320615	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25533962|PMID:25741868|PMID:26739615
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchopulmonary dysplasia of newborn	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:12273	anisometropia		ISO	RGD:1320615	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anisometropia	PMID:25533962|PMID:25741868|PMID:26739615
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:1324	lung cancer		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:1459	hypothyroidism		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:33277917
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:1826	epilepsy		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:31782611
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:21518873|PMID:26077850|PMID:26942287|PMID:9862965
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:1909	melanoma		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:2030	anxiety disorder		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:26739615|PMID:26942287|PMID:27148570
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:2340	craniosynostosis		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:2355	anemia		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:4667	kyphosis		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:5041	esophageal cancer		ISO	RGD:1320615	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:540	strabismus		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:21518873|PMID:25741868|PMID:26077850|PMID:26942287|PMID:9862965
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:630	genetic disease		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20562864|PMID:21518873|PMID:22495311|PMID:22542183|PMID:23375656|PMID:24267886|PMID:24463507|PMID:24896178|PMID:25533962|PMID:25694107|PMID:25741868|PMID:26077850|PMID:26739615|PMID:26942287|PMID:27148570|PMID:28480548|PMID:28492532|PMID:31782611|PMID:33277917|PMID:34645992|PMID:9862965
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:630	genetic disease		ISO	RGD:1320615	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20562864|PMID:21518873|PMID:22495311|PMID:22542183|PMID:23375656|PMID:24267886|PMID:24463507|PMID:24896178|PMID:25533962|PMID:25694107|PMID:25741868|PMID:26077850|PMID:26739615|PMID:26942287|PMID:27148570|PMID:28480548|PMID:28492532|PMID:33277917|PMID:34645992|PMID:9862965
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1320615	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25533962|PMID:25741868|PMID:26739615
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:22542183|PMID:26942287
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9000227	Hypogonadism and Testicular Atrophy		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Testicular atrophy	PMID:25741868|PMID:31782611
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:22542183|PMID:25741868|PMID:26942287|PMID:28492532
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: psychomotor agitation	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9001581	Constipation		ISO	RGD:1320615	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25533962|PMID:25741868|PMID:26739615
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9003133	Hypertelorism		ISO	RGD:1320615	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:21518873|PMID:26077850|PMID:26942287|PMID:9862965
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9003539	Hyperacusis		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9003591	Telecanthus		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320615	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9004484	Sepsis		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sepsis	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1320615	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:22542183|PMID:25533962|PMID:25741868|PMID:26739615|PMID:26942287
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9004898	Jaundice		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9004992	Apnea		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9005616	Micrognathism		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9007661	Dwarfism		ISO	RGD:1320615	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25533962|PMID:25741868|PMID:26739615
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9007817	Macroglossia		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320615	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21518873|PMID:22542183|PMID:25741868|PMID:26077850|PMID:26942287|PMID:28492532|PMID:33277917|PMID:9862965
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9008385	Vomiting		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:26077850|PMID:26739615|PMID:26942287|PMID:27148570
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28492532
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9351	diabetes mellitus		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868|PMID:33277917
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9452	steatotic liver disease		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9834	hyperopia		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9970	obesity		ISO	RGD:1320615	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Obesity	
1309980	Pogz	pogo transposable element derived with ZNF domain	gene	DOID:9993	hypoglycemia		ISO	RGD:1320615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
1309981	Zscan21	zinc finger and SCAN domain containing 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309981	Zscan21	zinc finger and SCAN domain containing 21	gene	DOID:10534	stomach cancer		ISO	RGD:1320617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309981	Zscan21	zinc finger and SCAN domain containing 21	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309981	Zscan21	zinc finger and SCAN domain containing 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309981	Zscan21	zinc finger and SCAN domain containing 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:0061047	autosomal dominant intellectual developmental disorder 74		ISO	RGD:1320619	D	RGD:7240710	20240207	OMIM			
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:0061047	autosomal dominant intellectual developmental disorder 74		ISO	RGD:1320619	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 74	PMID:25741868|PMID:37541189
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:10534	stomach cancer		ISO	RGD:1320619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:1909	melanoma		ISO	RGD:1320619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:1936	atherosclerosis		ISO	RGD:1320619	D	RGD:10054381|PMID:18508286	20150805	RGD		protein:increased expression:internal carotid artery, smooth muscle cell (human)	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:3070	high grade glioma		ISO	RGD:1320619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:3275	thymoma		ISO	RGD:1320619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:4362	cervical cancer		ISO	RGD:1320619	D	RGD:10054394|PMID:19319956	20150805	RGD		protein:increased expression:cervical epithelium (human)	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:5041	esophageal cancer		ISO	RGD:1320619	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:630	genetic disease		ISO	RGD:1320619	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:37541189
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1320620	D	RGD:10054390|PMID:19029002	20150805	RGD		protein:altered localization:lung (mouse)	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:37541189
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309982	Hnrnpc	heterogeneous nuclear ribonucleoprotein C	gene	DOID:9256	colorectal cancer		ISO	RGD:1320619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:0060058	lymphoma		ISO	RGD:1604385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1604385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1604385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1604385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1604385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1604385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1604385	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309983	Gramd4	GRAM domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309986	Rcc2	regulator of chromosome condensation 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309986	Rcc2	regulator of chromosome condensation 2	gene	DOID:10283	prostate cancer		ISO	RGD:1603393	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1309986	Rcc2	regulator of chromosome condensation 2	gene	DOID:1115	sarcoma		ISO	RGD:1603393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309986	Rcc2	regulator of chromosome condensation 2	gene	DOID:1324	lung cancer		ISO	RGD:1603393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309986	Rcc2	regulator of chromosome condensation 2	gene	DOID:1909	melanoma		ISO	RGD:1603393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309986	Rcc2	regulator of chromosome condensation 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1309986	Rcc2	regulator of chromosome condensation 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309986	Rcc2	regulator of chromosome condensation 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309986	Rcc2	regulator of chromosome condensation 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603393	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309986	Rcc2	regulator of chromosome condensation 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1309986	Rcc2	regulator of chromosome condensation 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309986	Rcc2	regulator of chromosome condensation 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1309986	Rcc2	regulator of chromosome condensation 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309987	Hook1	hook microtubule-tethering protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309987	Hook1	hook microtubule-tethering protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309987	Hook1	hook microtubule-tethering protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1320626	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1309987	Hook1	hook microtubule-tethering protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309987	Hook1	hook microtubule-tethering protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309987	Hook1	hook microtubule-tethering protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1309987	Hook1	hook microtubule-tethering protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309987	Hook1	hook microtubule-tethering protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309987	Hook1	hook microtubule-tethering protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320626	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309987	Hook1	hook microtubule-tethering protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309987	Hook1	hook microtubule-tethering protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309987	Hook1	hook microtubule-tethering protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309990	Uhrf2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309990	Uhrf2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309990	Uhrf2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
1309990	Uhrf2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309990	Uhrf2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:1909	melanoma		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309990	Uhrf2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309990	Uhrf2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309990	Uhrf2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320632	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309990	Uhrf2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309990	Uhrf2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309992	Nosip	nitric oxide synthase interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309992	Nosip	nitric oxide synthase interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320636	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309992	Nosip	nitric oxide synthase interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1320636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309992	Nosip	nitric oxide synthase interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309992	Nosip	nitric oxide synthase interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1320636	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309992	Nosip	nitric oxide synthase interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1320636	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309992	Nosip	nitric oxide synthase interacting protein	gene	DOID:4621	holoprosencephaly		ISS	RGD:1320637	D	RGD:13592920	20210603	MouseDO			
1309992	Nosip	nitric oxide synthase interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1320636	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309992	Nosip	nitric oxide synthase interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309992	Nosip	nitric oxide synthase interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309992	Nosip	nitric oxide synthase interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309993	Tbc1d14	TBC1 domain family, member 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309993	Tbc1d14	TBC1 domain family, member 14	gene	DOID:10534	stomach cancer		ISO	RGD:1320638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309993	Tbc1d14	TBC1 domain family, member 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309993	Tbc1d14	TBC1 domain family, member 14	gene	DOID:1115	sarcoma		ISO	RGD:1320638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309993	Tbc1d14	TBC1 domain family, member 14	gene	DOID:1324	lung cancer		ISO	RGD:1320638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309993	Tbc1d14	TBC1 domain family, member 14	gene	DOID:1909	melanoma		ISO	RGD:1320638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309993	Tbc1d14	TBC1 domain family, member 14	gene	DOID:2394	ovarian cancer		ISO	RGD:1320638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1309993	Tbc1d14	TBC1 domain family, member 14	gene	DOID:3070	high grade glioma		ISO	RGD:1320638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1309993	Tbc1d14	TBC1 domain family, member 14	gene	DOID:3275	thymoma		ISO	RGD:1320638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1309993	Tbc1d14	TBC1 domain family, member 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309993	Tbc1d14	TBC1 domain family, member 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309993	Tbc1d14	TBC1 domain family, member 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309993	Tbc1d14	TBC1 domain family, member 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320638	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309994	Myo5c	myosin VC	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309994	Myo5c	myosin VC	gene	DOID:10534	stomach cancer		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309994	Myo5c	myosin VC	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309994	Myo5c	myosin VC	gene	DOID:1324	lung cancer		ISO	RGD:1320640	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309994	Myo5c	myosin VC	gene	DOID:1909	melanoma		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309994	Myo5c	myosin VC	gene	DOID:303	substance-related disorder		ISO	RGD:1320640	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1309994	Myo5c	myosin VC	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1309994	Myo5c	myosin VC	gene	DOID:4362	cervical cancer		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309994	Myo5c	myosin VC	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1309994	Myo5c	myosin VC	gene	DOID:5041	esophageal cancer		ISO	RGD:1320640	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309994	Myo5c	myosin VC	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309994	Myo5c	myosin VC	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309994	Myo5c	myosin VC	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309994	Myo5c	myosin VC	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309994	Myo5c	myosin VC	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309994	Myo5c	myosin VC	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1309995	Washc4	WASH complex subunit 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1309995	Washc4	WASH complex subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309995	Washc4	WASH complex subunit 4	gene	DOID:0081207	autosomal recessive intellectual developmental disorder 43		ISO	RGD:1603694	D	RGD:7240710	20140911	OMIM			
1309995	Washc4	WASH complex subunit 4	gene	DOID:0081207	autosomal recessive intellectual developmental disorder 43		ISO	RGD:1603694	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 43 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 43 | ClinVar Annotator: match by term: WASHC4-related condition	PMID:25741868|PMID:28492532|PMID:31231135|PMID:31953988|PMID:34599609|PMID:35667337|PMID:37586840
1309995	Washc4	WASH complex subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1309995	Washc4	WASH complex subunit 4	gene	DOID:1059	intellectual disability		ISO	RGD:1603694	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868
1309995	Washc4	WASH complex subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309995	Washc4	WASH complex subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1309995	Washc4	WASH complex subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309995	Washc4	WASH complex subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309995	Washc4	WASH complex subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1603694	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309995	Washc4	WASH complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309995	Washc4	WASH complex subunit 4	gene	DOID:630	genetic disease		ISO	RGD:1603694	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1309995	Washc4	WASH complex subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1309995	Washc4	WASH complex subunit 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1309995	Washc4	WASH complex subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309995	Washc4	WASH complex subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1309995	Washc4	WASH complex subunit 4	gene	DOID:9169	Wiskott-Aldrich syndrome		ISS	RGD:1320642	D	RGD:13592920	20211104	MouseDO		OMIM:301000	
1309996	Ermap	erythroblast membrane associated protein (Scianna blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1309996	Ermap	erythroblast membrane associated protein (Scianna blood group)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1309996	Ermap	erythroblast membrane associated protein (Scianna blood group)	gene	DOID:1324	lung cancer		ISO	RGD:1320643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1309996	Ermap	erythroblast membrane associated protein (Scianna blood group)	gene	DOID:1909	melanoma		ISO	RGD:1320643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1309996	Ermap	erythroblast membrane associated protein (Scianna blood group)	gene	DOID:4362	cervical cancer		ISO	RGD:1320643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1309996	Ermap	erythroblast membrane associated protein (Scianna blood group)	gene	DOID:5041	esophageal cancer		ISO	RGD:1320643	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1309996	Ermap	erythroblast membrane associated protein (Scianna blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309996	Ermap	erythroblast membrane associated protein (Scianna blood group)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309997	Ndufa2	NADH:ubiquinone oxidoreductase subunit A2	gene	DOID:0112076	nuclear type mitochondrial complex I deficiency 13		ISO	RGD:1320645	D	RGD:7240710	20190315	OMIM			
1309997	Ndufa2	NADH:ubiquinone oxidoreductase subunit A2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1320645	D	RGD:13792588|PMID:28474567	20181106	RGD			
1309997	Ndufa2	NADH:ubiquinone oxidoreductase subunit A2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1320645	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1309997	Ndufa2	NADH:ubiquinone oxidoreductase subunit A2	gene	DOID:9000918	Disease Progression		ISO	RGD:1320645	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1309997	Ndufa2	NADH:ubiquinone oxidoreductase subunit A2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320645	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1309999	Ptgr3	prostaglandin reductase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1309999	Ptgr3	prostaglandin reductase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1309999	Ptgr3	prostaglandin reductase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1309999	Ptgr3	prostaglandin reductase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1309999	Ptgr3	prostaglandin reductase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310001	Hoxa9	homeobox A9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320652	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26332997
1310001	Hoxa9	homeobox A9	gene	DOID:1909	melanoma		ISO	RGD:1320652	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778180
1310001	Hoxa9	homeobox A9	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1320652	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26332997
1310001	Hoxa9	homeobox A9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320652	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22541086
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:10283	prostate cancer		ISO	RGD:1320657	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:10283	prostate cancer		ISO	RGD:1320657	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:1115	sarcoma		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:1324	lung cancer		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:1909	melanoma		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:3070	high grade glioma		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320657	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:5419	schizophrenia		ISO	RGD:1320657	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:1320657	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310005	Sbno1	strawberry notch homolog 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310006	Dph6	diphthamine biosynthesis 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310006	Dph6	diphthamine biosynthesis 6	gene	DOID:1115	sarcoma		ISO	RGD:1603188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310006	Dph6	diphthamine biosynthesis 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310006	Dph6	diphthamine biosynthesis 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310006	Dph6	diphthamine biosynthesis 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1603188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310006	Dph6	diphthamine biosynthesis 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310006	Dph6	diphthamine biosynthesis 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310007	Rragd	Ras-related GTP binding D	gene	DOID:0060972	renal hypomagnesemia 7, with or without dilated cardiomyopathy		ISO	RGD:1320660	D	RGD:7240710	20221214	OMIM			
1310007	Rragd	Ras-related GTP binding D	gene	DOID:0060972	renal hypomagnesemia 7, with or without dilated cardiomyopathy		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: Hypomagnesemia 7, renal, with or without dilated cardiomyopathy	PMID:25741868|PMID:34607910|PMID:37188688|PMID:38372174
1310007	Rragd	Ras-related GTP binding D	gene	DOID:10534	stomach cancer		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310007	Rragd	Ras-related GTP binding D	gene	DOID:1115	sarcoma		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310007	Rragd	Ras-related GTP binding D	gene	DOID:1909	melanoma		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310007	Rragd	Ras-related GTP binding D	gene	DOID:3275	thymoma		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310007	Rragd	Ras-related GTP binding D	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310007	Rragd	Ras-related GTP binding D	gene	DOID:4362	cervical cancer		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310007	Rragd	Ras-related GTP binding D	gene	DOID:630	genetic disease		ISO	RGD:1320660	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310007	Rragd	Ras-related GTP binding D	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310007	Rragd	Ras-related GTP binding D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310007	Rragd	Ras-related GTP binding D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310007	Rragd	Ras-related GTP binding D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310008	Dbndd1	dysbindin domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310008	Dbndd1	dysbindin domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:1909	melanoma		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:3677	pulmonary plasma cell granuloma		ISO	RGD:1320664	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21430068
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320664	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:630	genetic disease		ISO	RGD:1320664	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:9006383	Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities		ISO	RGD:1320664	D	RGD:7240710	20221116	OMIM			
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:9006383	Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities		ISO	RGD:1320664	D	RGD:8554872	20221115	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities	PMID:25741868|PMID:35830857
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310010	Ppfibp1	PPFIB scaffold protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310012	Tmem8b	transmembrane protein 8B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310012	Tmem8b	transmembrane protein 8B	gene	DOID:10534	stomach cancer		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310012	Tmem8b	transmembrane protein 8B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310012	Tmem8b	transmembrane protein 8B	gene	DOID:1115	sarcoma		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310012	Tmem8b	transmembrane protein 8B	gene	DOID:1324	lung cancer		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310012	Tmem8b	transmembrane protein 8B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310012	Tmem8b	transmembrane protein 8B	gene	DOID:2394	ovarian cancer		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310012	Tmem8b	transmembrane protein 8B	gene	DOID:3275	thymoma		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310012	Tmem8b	transmembrane protein 8B	gene	DOID:4362	cervical cancer		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310012	Tmem8b	transmembrane protein 8B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310012	Tmem8b	transmembrane protein 8B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310012	Tmem8b	transmembrane protein 8B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0060037	developmental disorder of mental health		ISO	RGD:1320669	D	RGD:401854249|PMID:35642741	20231106	RGD		DNA:SNP:CDS:multiple (human)	
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF	
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0080600	COVID-19		ISO	RGD:1320669	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:28492532
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0112093	nuclear type mitochondrial complex I deficiency 3		ISO	RGD:1320669	D	RGD:7240710	20190315	OMIM			
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0112093	nuclear type mitochondrial complex I deficiency 3		ISO	RGD:1320669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 3 | ClinVar Annotator: match by term: NDUFS7-related condition	PMID:10330338|PMID:10360771|PMID:11004438|PMID:17604671|PMID:25741868|PMID:26024641|PMID:28492532|PMID:30369941
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:1059	intellectual disability		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:1115	sarcoma		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:12849	autistic disorder		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:3312	bipolar disorder		ISO	RGD:1320669	D	RGD:6484696|PMID:20368511	20120702	RGD		protein:decreased expression:prefrontal cortex (human)	
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:3652	Leigh disease		ISO	RGD:1320669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease	PMID:10330338|PMID:10360771|PMID:11004438|PMID:25741868|PMID:28492532|PMID:30369941
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:5041	esophageal cancer		ISO	RGD:1320669	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:630	genetic disease		ISO	RGD:1320669	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310013	Ndufs7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	
1310014	Hpdl	4-hydroxyphenylpyruvate dioxygenase-like	gene	DOID:0050952	spastic ataxia		ISO	RGD:1606204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:39408944|PMID:40719007
1310014	Hpdl	4-hydroxyphenylpyruvate dioxygenase-like	gene	DOID:0112346	hereditary spastic paraplegia 83		ISO	RGD:1606204	D	RGD:7240710	20201007	OMIM			
1310014	Hpdl	4-hydroxyphenylpyruvate dioxygenase-like	gene	DOID:0112346	hereditary spastic paraplegia 83		ISO	RGD:1606204	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive	PMID:25741868|PMID:32707086|PMID:33970200
1310014	Hpdl	4-hydroxyphenylpyruvate dioxygenase-like	gene	DOID:1289	neurodegenerative disease		ISS	RGD:1332429	D	RGD:13592920	20230406	MouseDO			
1310014	Hpdl	4-hydroxyphenylpyruvate dioxygenase-like	gene	DOID:540	strabismus		ISO	RGD:1606204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:32707086|PMID:37838930
1310014	Hpdl	4-hydroxyphenylpyruvate dioxygenase-like	gene	DOID:607	paraplegia		ISO	RGD:1606204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868|PMID:32707086|PMID:33188300|PMID:33970200|PMID:35985664|PMID:40368591
1310014	Hpdl	4-hydroxyphenylpyruvate dioxygenase-like	gene	DOID:630	genetic disease		ISO	RGD:1606204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:32707086|PMID:33970200|PMID:37838930
1310014	Hpdl	4-hydroxyphenylpyruvate dioxygenase-like	gene	DOID:9004548	Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities		ISO	RGD:1606204	D	RGD:7240710	20201216	OMIM			
1310014	Hpdl	4-hydroxyphenylpyruvate dioxygenase-like	gene	DOID:9004548	Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities		ISO	RGD:1606204	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 1 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	PMID:25741868|PMID:32707086|PMID:33188300|PMID:33970200|PMID:37838930
1310014	Hpdl	4-hydroxyphenylpyruvate dioxygenase-like	gene	DOID:9004866	Ataxia		ISO	RGD:1606204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:25741868|PMID:32707086|PMID:37838930
1310014	Hpdl	4-hydroxyphenylpyruvate dioxygenase-like	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:32707086|PMID:37838930
1310015	Cd7	Cd7 molecule	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1320672	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
1310015	Cd7	Cd7 molecule	gene	DOID:1115	sarcoma		ISO	RGD:1320672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310015	Cd7	Cd7 molecule	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310015	Cd7	Cd7 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1320672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310015	Cd7	Cd7 molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320672	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310015	Cd7	Cd7 molecule	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1320672	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1310015	Cd7	Cd7 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310015	Cd7	Cd7 molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:10534	stomach cancer		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:1115	sarcoma		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:1324	lung cancer		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:1826	epilepsy		ISO	RGD:1320674	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:1909	melanoma		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:4362	cervical cancer		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:9005601	CATIFA Syndrome		ISO	RGD:1320674	D	RGD:7240710	20200226	OMIM			
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:9005601	CATIFA Syndrome		ISO	RGD:1320674	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CATIFA syndrome | ClinVar Annotator: match by term: Catifa syndrome | ClinVar Annotator: match by term: RIC1-related condition	PMID:25741868|PMID:31932796
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310016	Ric1	RIC1 partner of RAB6A GEF complex	gene	DOID:9256	colorectal cancer		ISO	RGD:1320674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:0080600	COVID-19		ISO	RGD:1320676	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:10534	stomach cancer		ISO	RGD:1320676	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:1324	lung cancer		ISO	RGD:1320676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:1909	melanoma		ISO	RGD:1320676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:3275	thymoma		ISO	RGD:1320676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:4362	cervical cancer		ISO	RGD:1320676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1320676	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310017	Arhgap12	Rho GTPase activating protein 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310019	Hnrnph3	heterogeneous nuclear ribonucleoprotein H3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310019	Hnrnph3	heterogeneous nuclear ribonucleoprotein H3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310019	Hnrnph3	heterogeneous nuclear ribonucleoprotein H3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310022	Ramac	RNA guanine-7 methyltransferase activating subunit	gene	DOID:1324	lung cancer		ISO	RGD:1320685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310022	Ramac	RNA guanine-7 methyltransferase activating subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310024	Otud6b	OTU deubiquitinase 6B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310024	Otud6b	OTU deubiquitinase 6B	gene	DOID:10534	stomach cancer		ISO	RGD:1602119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310024	Otud6b	OTU deubiquitinase 6B	gene	DOID:1324	lung cancer		ISO	RGD:1602119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310024	Otud6b	OTU deubiquitinase 6B	gene	DOID:4362	cervical cancer		ISO	RGD:1602119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310024	Otud6b	OTU deubiquitinase 6B	gene	DOID:5041	esophageal cancer		ISO	RGD:1602119	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310024	Otud6b	OTU deubiquitinase 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310024	Otud6b	OTU deubiquitinase 6B	gene	DOID:630	genetic disease		ISO	RGD:1602119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310024	Otud6b	OTU deubiquitinase 6B	gene	DOID:9000505	Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies		ISO	RGD:1602119	D	RGD:7240710	20190315	OMIM			
1310024	Otud6b	OTU deubiquitinase 6B	gene	DOID:9000505	Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies		ISO	RGD:1602119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | ClinVar Annotator: match by term: OTUD6B-related condition	PMID:25741868|PMID:28343629|PMID:28492532|PMID:31147255|PMID:32181568|PMID:32924626
1310024	Otud6b	OTU deubiquitinase 6B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310025	Gtpbp8	GTP binding protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310025	Gtpbp8	GTP binding protein 8	gene	DOID:1115	sarcoma		ISO	RGD:1606015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310025	Gtpbp8	GTP binding protein 8	gene	DOID:1324	lung cancer		ISO	RGD:1606015	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310025	Gtpbp8	GTP binding protein 8	gene	DOID:1909	melanoma		ISO	RGD:1606015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310025	Gtpbp8	GTP binding protein 8	gene	DOID:2394	ovarian cancer		ISO	RGD:1606015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310025	Gtpbp8	GTP binding protein 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1606015	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310025	Gtpbp8	GTP binding protein 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310025	Gtpbp8	GTP binding protein 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1606015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310027	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310027	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:0080600	COVID-19		ISO	RGD:1349772	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310027	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:10534	stomach cancer		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310027	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:1059	intellectual disability		ISO	RGD:1349772	D	RGD:8554872	20200410	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1310027	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:1909	melanoma		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310027	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310027	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:4362	cervical cancer		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310027	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:5041	esophageal cancer		ISO	RGD:1349772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310027	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310027	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310027	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310027	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310027	Tnrc6c	trinucleotide repeat containing adaptor 6C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310028	Cimap1a	ciliary microtubule associated protein 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310028	Cimap1a	ciliary microtubule associated protein 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310030	Sptlc3	serine palmitoyltransferase, long chain base subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310030	Sptlc3	serine palmitoyltransferase, long chain base subunit 3	gene	DOID:870	neuropathy		ISO	RGD:1351339	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:26257172
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:0050952	spastic ataxia		ISO	RGD:1603658	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1603658	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:0060249	scoliosis		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24791903|PMID:25741868|PMID:27148574|PMID:28492532|PMID:29696776
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:0070055	Xia-Gibbs syndrome		ISO	RGD:1603658	D	RGD:7240710	20140911	OMIM			
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:0070055	Xia-Gibbs syndrome		ISO	RGD:1603658	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: AHDC1-related condition | ClinVar Annotator: match by term: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | ClinVar Annotator: match by term: XIA-GIBBS SYNDROME | ClinVar Annotator: match by term: Xia-Gibbs syndrome	PMID:24791903|PMID:25741868|PMID:25741869|PMID:27148574|PMID:28135719|PMID:28191890|PMID:28492532|PMID:29230160|PMID:29696776|PMID:30858058|PMID:31474318|PMID:31812316|PMID:32256298|PMID:33057194|PMID:33372375|PMID:33644933|PMID:35716097|PMID:38177409|PMID:38225666|PMID:38837156|PMID:4067559
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:0070055	Xia-Gibbs syndrome		ISS	RGD:1552164	D	RGD:13592920	20240307	MouseDO		OMIM:615829	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1603658	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:31474318
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:24791903|PMID:25741868|PMID:27148574|PMID:28492532|PMID:29696776
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:10907	microcephaly		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:4067559
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:1826	epilepsy		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:540	strabismus		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:24791903|PMID:25741868|PMID:27148574|PMID:28492532|PMID:29696776
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:630	genetic disease		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24791903|PMID:25741868|PMID:27148574|PMID:28492532|PMID:28518168|PMID:29696776|PMID:30152016|PMID:30729726|PMID:32461654|PMID:34395220
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603658	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9004866	Ataxia		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:1603658	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:26350515
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:24791903|PMID:25741868|PMID:27148574|PMID:28492532|PMID:29696776
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia | ClinVar Annotator: match by term: micrognathia	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9007073	Cough		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cough	PMID:28492532
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9007152	Talipes		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24791903|PMID:25741868|PMID:27148574|PMID:28492532|PMID:29696776
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9834	hyperopia		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1310031	Ahdc1	AT hook, DNA binding motif, containing 1	gene	DOID:9970	obesity		ISO	RGD:1603658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:4067559
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum		ISO	RGD:1320698	D	RGD:7240710	20211027	OMIM			
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum		ISO	RGD:1320698	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | ClinVar Annotator: match by term: SUPT16H-related condition	PMID:25741868|PMID:28492532|PMID:31924697|PMID:36255738|PMID:38818817|PMID:41556401
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:0111503	Li-Fraumeni syndrome 1		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Li-Fraumeni syndrome 1	PMID:25741868
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:1324	lung cancer		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:1909	melanoma		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1320698	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:630	genetic disease		ISO	RGD:1320698	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320698	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:9007617	Conotruncal Cardiac Defects		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Conotruncal defect	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320698	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310032	Supt16h	SPT16 homolog, facilitates chromatin remodeling subunit	gene	DOID:9970	obesity		ISO	RGD:1320698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1310033	Moxd1	monooxygenase, DBH-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310033	Moxd1	monooxygenase, DBH-like 1	gene	DOID:10325	silicosis		ISO	RGD:1320700	D	RGD:11554173	20241105	CTD		CTD Direct Evidence: marker/mechanism	PMID:38403151
1310033	Moxd1	monooxygenase, DBH-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310033	Moxd1	monooxygenase, DBH-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310033	Moxd1	monooxygenase, DBH-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320700	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310033	Moxd1	monooxygenase, DBH-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310033	Moxd1	monooxygenase, DBH-like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310033	Moxd1	monooxygenase, DBH-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310035	Dnaja4	DnaJ heat shock protein family (Hsp40) member A4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310035	Dnaja4	DnaJ heat shock protein family (Hsp40) member A4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310035	Dnaja4	DnaJ heat shock protein family (Hsp40) member A4	gene	DOID:3275	thymoma		ISO	RGD:1320703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310035	Dnaja4	DnaJ heat shock protein family (Hsp40) member A4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310035	Dnaja4	DnaJ heat shock protein family (Hsp40) member A4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310035	Dnaja4	DnaJ heat shock protein family (Hsp40) member A4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310035	Dnaja4	DnaJ heat shock protein family (Hsp40) member A4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310037	Eeig2	EEIG family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310037	Eeig2	EEIG family member 2	gene	DOID:3275	thymoma		ISO	RGD:1603518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310037	Eeig2	EEIG family member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310037	Eeig2	EEIG family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603518	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310037	Eeig2	EEIG family member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310037	Eeig2	EEIG family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310037	Eeig2	EEIG family member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603518	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310037	Eeig2	EEIG family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310037	Eeig2	EEIG family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310038	Sox7	SRY-box transcription factor 7	gene	DOID:3827	congenital diaphragmatic hernia		ISS	RGD:1320708	D	RGD:13592920	20180719	MouseDO		OMIM:142340 | OMIM:222400 | OMIM:610187	
1310039	Spata6l	spermatogenesis associated 6-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310039	Spata6l	spermatogenesis associated 6-like	gene	DOID:1115	sarcoma		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310039	Spata6l	spermatogenesis associated 6-like	gene	DOID:1909	melanoma		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310039	Spata6l	spermatogenesis associated 6-like	gene	DOID:2394	ovarian cancer		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310039	Spata6l	spermatogenesis associated 6-like	gene	DOID:3275	thymoma		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310039	Spata6l	spermatogenesis associated 6-like	gene	DOID:4362	cervical cancer		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310039	Spata6l	spermatogenesis associated 6-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310039	Spata6l	spermatogenesis associated 6-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1320709	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310039	Spata6l	spermatogenesis associated 6-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310039	Spata6l	spermatogenesis associated 6-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320709	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310039	Spata6l	spermatogenesis associated 6-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310039	Spata6l	spermatogenesis associated 6-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310039	Spata6l	spermatogenesis associated 6-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310040	Npas1	neuronal PAS domain protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310040	Npas1	neuronal PAS domain protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320711	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310040	Npas1	neuronal PAS domain protein 1	gene	DOID:1909	melanoma		ISO	RGD:1320711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310040	Npas1	neuronal PAS domain protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310041	Foxl2	forkhead box L2	gene	DOID:0080860	primary ovarian insufficiency 3		ISO	RGD:1320713	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310041	Foxl2	forkhead box L2	gene	DOID:0080860	primary ovarian insufficiency 3		ISO	RGD:1320713	D	RGD:7240710	20130425	OMIM			
1310041	Foxl2	forkhead box L2	gene	DOID:0080860	primary ovarian insufficiency 3		ISO	RGD:1320713	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 3 | ClinVar Annotator: match by term: Premature ovarian failure 3	PMID:12161610|PMID:19429596|PMID:25741868|PMID:28492532
1310041	Foxl2	forkhead box L2	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1320713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
1310041	Foxl2	forkhead box L2	gene	DOID:10348	blepharophimosis		ISO	RGD:1320713	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:25741868
1310041	Foxl2	forkhead box L2	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1320713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:25741868
1310041	Foxl2	forkhead box L2	gene	DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome		ISO	RGD:1320713	D	RGD:11554173	20190305	CTD		CTD Direct Evidence: marker/mechanism	PMID:16283882
1310041	Foxl2	forkhead box L2	gene	DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome		ISO	RGD:1320713	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310041	Foxl2	forkhead box L2	gene	DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome		ISO	RGD:1320713	D	RGD:1598958|PMID:11175783	20070108	RGD		DNA:mutations:multiple (human)	
1310041	Foxl2	forkhead box L2	gene	DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome		ISO	RGD:1320713	D	RGD:7240710	20130515	OMIM			
1310041	Foxl2	forkhead box L2	gene	DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome		ISO	RGD:1320713	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS | ClinVar Annotator: match by term: BPES | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome | ClinVar Annotator: match by term: FOXL2-related condition	PMID:11468277|PMID:12529855|PMID:16283882|PMID:17277738|PMID:17968144|PMID:18372316|PMID:18484667|PMID:18635577|PMID:18642388|PMID:19010791|PMID:19515849|PMID:22159675|PMID:22312189|PMID:23441113|PMID:24030029|PMID:25741868|PMID:27914838|PMID:28492532|PMID:31048069|PMID:31077882|PMID:32454486|PMID:33796131|PMID:36338666|PMID:37276318
1310041	Foxl2	forkhead box L2	gene	DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome		ISS	RGD:1320714	D	RGD:13592920	20230718	MouseDO		OMIM:110100	
1310041	Foxl2	forkhead box L2	gene	DOID:2876	laryngeal squamous cell carcinoma	exacerbates	ISO	RGD:1320713	D	RGD:151667913|PMID:32517588	20220412	RGD		mRNA:increased expression:larynx (human)	
1310041	Foxl2	forkhead box L2	gene	DOID:2999	granulosa cell tumor		ISS	RGD:1320714	D	RGD:13592920	20251023	MouseDO			
1310041	Foxl2	forkhead box L2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1320713	D	RGD:13503323|PMID:23599765	20220412	RGD		DNA:hypermethylation: (human)	
1310041	Foxl2	forkhead box L2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1320713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1310041	Foxl2	forkhead box L2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1320713	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24728327
1310041	Foxl2	forkhead box L2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1320713	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:24728327|PMID:25741868
1310041	Foxl2	forkhead box L2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1320713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
1310041	Foxl2	forkhead box L2	gene	DOID:630	genetic disease		ISO	RGD:1320713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11175783|PMID:12149404|PMID:12400065|PMID:12630957|PMID:16283882|PMID:17277738|PMID:17968144|PMID:18484667|PMID:18642388|PMID:25741868|PMID:28492532|PMID:37276318|PMID:38558253
1310041	Foxl2	forkhead box L2	gene	DOID:630	genetic disease		ISO	RGD:1320713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12149404|PMID:16283882|PMID:17277738|PMID:17968144|PMID:18484667|PMID:18642388|PMID:25741868|PMID:28492532|PMID:37276318|PMID:38558253
1310041	Foxl2	forkhead box L2	gene	DOID:9000058	Keloid		ISO	RGD:1320713	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20711176
1310041	Foxl2	forkhead box L2	gene	DOID:9003489	Blepharophimosis Syndrome Type 1		ISO	RGD:1320713	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16219626|PMID:20429427|PMID:21889601
1310041	Foxl2	forkhead box L2	gene	DOID:9003489	Blepharophimosis Syndrome Type 1		ISO	RGD:1320713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	PMID:11175783|PMID:25741868|PMID:28492532|PMID:28849110|PMID:30029625|PMID:30198434|PMID:31048069
1310041	Foxl2	forkhead box L2	gene	DOID:9007148	Blepharophimosis Syndrome Type 2		ISO	RGD:1320713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II	PMID:16283882|PMID:17277738|PMID:17968144|PMID:18484667|PMID:18642388|PMID:25741868|PMID:28492532|PMID:37276318
1310041	Foxl2	forkhead box L2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16283882|PMID:17277738|PMID:17968144|PMID:18484667|PMID:18642388|PMID:25741868|PMID:28492532|PMID:37276318
1310041	Foxl2	forkhead box L2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1320713	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
1310043	Armc7	armadillo repeat containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310044	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310044	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:1320718	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1310044	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310044	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:289	endometriosis		ISO	RGD:1320718	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
1310044	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1320718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310044	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1320718	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310044	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310044	Itgb3bp	integrin subunit beta 3 binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310045	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310045	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:10534	stomach cancer		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310045	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310045	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:1324	lung cancer		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310045	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310045	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:4362	cervical cancer		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310045	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310045	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310045	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310045	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310045	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310045	Ttc14	tetratricopeptide repeat domain 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:0060058	lymphoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:10534	stomach cancer		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:10763	hypertension		IMP		D	RGD:9685162|PMID:23185005	20171010	RGD			
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:1115	sarcoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:11383	cryptorchidism		IMP		D	RGD:13434925|PMID:24983376	20201210	RGD			
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:11383	cryptorchidism		IMP		D	RGD:38548917|PMID:32037220	20201210	RGD			
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:12336	male infertility		IMP		D	RGD:13434925|PMID:24983376	20171010	RGD			
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:12336	male infertility		IMP		D	RGD:38548917|PMID:32037220	20201210	RGD			
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:4362	cervical cancer		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1320722	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:9003766	46, XY Disorders of Sex Development		ISO	RGD:1320722	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 46 XY differences of sex development	
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310046	Adamts16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310047	Calml5	calmodulin-like 5	gene	DOID:10140	dry eye syndrome	severity	ISO	RGD:1320724	D	RGD:408395145|PMID:28918083	20241112	RGD			
1310047	Calml5	calmodulin-like 5	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1320724	D	RGD:13792493|PMID:11470324	20180911	RGD		protein:altered expression:neuron,glia	
1310048	Odad3	outer dynein arm docking complex subunit 3	gene	DOID:0050144	Kartagener syndrome		ISS	RGD:1331977	D	RGD:13592920	20180518	MouseDO			
1310048	Odad3	outer dynein arm docking complex subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310048	Odad3	outer dynein arm docking complex subunit 3	gene	DOID:0110624	primary ciliary dyskinesia 30		ISO	RGD:1603185	D	RGD:7240710	20160720	OMIM			
1310048	Odad3	outer dynein arm docking complex subunit 3	gene	DOID:0110624	primary ciliary dyskinesia 30		ISO	RGD:1603185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 30 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: ODAD3-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 30	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25192045|PMID:25224326|PMID:25741868|PMID:28492532|PMID:31130284|PMID:31213628|PMID:32111882|PMID:35239159|PMID:9536098
1310048	Odad3	outer dynein arm docking complex subunit 3	gene	DOID:0110624	primary ciliary dyskinesia 30		ISS	RGD:1331977	D	RGD:13592920	20230718	MouseDO		OMIM:616037	
1310048	Odad3	outer dynein arm docking complex subunit 3	gene	DOID:10969	hemiplegia		ISO	RGD:1603185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiplegia	PMID:25192045|PMID:28492532
1310048	Odad3	outer dynein arm docking complex subunit 3	gene	DOID:630	genetic disease		ISO	RGD:1603185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25192045|PMID:25741868|PMID:28492532
1310048	Odad3	outer dynein arm docking complex subunit 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25192045|PMID:28492532
1310048	Odad3	outer dynein arm docking complex subunit 3	gene	DOID:9007073	Cough		ISO	RGD:1603185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cough	PMID:25192045|PMID:28492532
1310048	Odad3	outer dynein arm docking complex subunit 3	gene	DOID:9007402	Gliosis		ISO	RGD:1603185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:25192045|PMID:28492532
1310048	Odad3	outer dynein arm docking complex subunit 3	gene	DOID:9007456	Female Infertility		ISO	RGD:1603185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Female infertility	PMID:25741868
1310048	Odad3	outer dynein arm docking complex subunit 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25192045|PMID:28492532
1310048	Odad3	outer dynein arm docking complex subunit 3	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1603185	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:25741868|PMID:28492532
1310048	Odad3	outer dynein arm docking complex subunit 3	gene	DOID:9840	esotropia		ISO	RGD:1603185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25192045|PMID:28492532
1310051	Lpo	lactoperoxidase	gene	DOID:1324	lung cancer		ISO	RGD:1320729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310051	Lpo	lactoperoxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310051	Lpo	lactoperoxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310052	B4galnt4	beta-1,4-N-acetyl-galactosaminyl transferase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310052	B4galnt4	beta-1,4-N-acetyl-galactosaminyl transferase 4	gene	DOID:1115	sarcoma		ISO	RGD:1602277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310052	B4galnt4	beta-1,4-N-acetyl-galactosaminyl transferase 4	gene	DOID:1324	lung cancer		ISO	RGD:1602277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310052	B4galnt4	beta-1,4-N-acetyl-galactosaminyl transferase 4	gene	DOID:1909	melanoma		ISO	RGD:1602277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310052	B4galnt4	beta-1,4-N-acetyl-galactosaminyl transferase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310052	B4galnt4	beta-1,4-N-acetyl-galactosaminyl transferase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1602277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310052	B4galnt4	beta-1,4-N-acetyl-galactosaminyl transferase 4	gene	DOID:3275	thymoma		ISO	RGD:1602277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310052	B4galnt4	beta-1,4-N-acetyl-galactosaminyl transferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1602277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310052	B4galnt4	beta-1,4-N-acetyl-galactosaminyl transferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310052	B4galnt4	beta-1,4-N-acetyl-galactosaminyl transferase 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310052	B4galnt4	beta-1,4-N-acetyl-galactosaminyl transferase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310053	Ndfip1	Nedd4 family interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310053	Ndfip1	Nedd4 family interacting protein 1	gene	DOID:0051061	stroke		IEP		D	RGD:6893327|PMID:22417925	20120823	RGD			
1310053	Ndfip1	Nedd4 family interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1320732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310053	Ndfip1	Nedd4 family interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1320732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310053	Ndfip1	Nedd4 family interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1320732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310053	Ndfip1	Nedd4 family interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310053	Ndfip1	Nedd4 family interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310053	Ndfip1	Nedd4 family interacting protein 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1320732	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1310053	Ndfip1	Nedd4 family interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310054	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310054	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310054	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310054	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310054	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310054	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310054	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310054	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310054	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310054	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1310054	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310054	Qtrt2	queuine tRNA-ribosyltransferase accessory subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310055	Prdm15	PR/SET domain 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310055	Prdm15	PR/SET domain 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310055	Prdm15	PR/SET domain 15	gene	DOID:0060058	lymphoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310055	Prdm15	PR/SET domain 15	gene	DOID:1115	sarcoma		ISO	RGD:1320736	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310055	Prdm15	PR/SET domain 15	gene	DOID:1324	lung cancer		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310055	Prdm15	PR/SET domain 15	gene	DOID:1909	melanoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310055	Prdm15	PR/SET domain 15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310055	Prdm15	PR/SET domain 15	gene	DOID:3070	high grade glioma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310055	Prdm15	PR/SET domain 15	gene	DOID:3275	thymoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310055	Prdm15	PR/SET domain 15	gene	DOID:4362	cervical cancer		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310055	Prdm15	PR/SET domain 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310055	Prdm15	PR/SET domain 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1320736	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310055	Prdm15	PR/SET domain 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310055	Prdm15	PR/SET domain 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310055	Prdm15	PR/SET domain 15	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310055	Prdm15	PR/SET domain 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310055	Prdm15	PR/SET domain 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310055	Prdm15	PR/SET domain 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0050561	Lennox-Gastaut syndrome		ISO	RGD:1320737	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Lennox-Gastaut syndrome	PMID:25741868
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0050567	orofacial cleft		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0050591	tooth agenesis		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:23708187|PMID:24207121|PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0050834	CHARGE syndrome		ISS	RGD:1616514	D	RGD:13592920	20180518	MouseDO		OMIM:214800	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25384982|PMID:8232556|PMID:9326634|PMID:9565609
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320737	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320737	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:1320737	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset	PMID:15988005|PMID:16199547|PMID:17576681|PMID:22178256|PMID:23708187|PMID:24207121|PMID:24932903|PMID:25741868|PMID:25783594|PMID:26467025|PMID:26795593|PMID:28074849|PMID:28492532|PMID:28960266|PMID:31170314|PMID:31440721|PMID:31526516|PMID:31618753|PMID:31677157|PMID:31785789|PMID:33004838|PMID:33176815|PMID:34713950|PMID:9536098
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset	PMID:16199547|PMID:17576681|PMID:22178256|PMID:23708187|PMID:24207121|PMID:24932903|PMID:25741868|PMID:25783594|PMID:26467025|PMID:28492532|PMID:28960266|PMID:31170314|PMID:31526516|PMID:31618753|PMID:31677157|PMID:31785789|PMID:33004838|PMID:33176815|PMID:34713950|PMID:35774528|PMID:39035822|PMID:9536098
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0070309	absence epilepsy		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:31677157
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0070529	Sifrim-Hitz-Weiss syndrome		ISO	RGD:1320737	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:23708187|PMID:24207121|PMID:24614520|PMID:25326635|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:29358611|PMID:30525188|PMID:31618753|PMID:31677157|PMID:34713950
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1320737	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0081325	developmental and epileptic encephalopathy 94		ISO	RGD:1320737	D	RGD:7240710	20210421	OMIM			
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0081325	developmental and epileptic encephalopathy 94		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHD2-related disorder | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 94	PMID:16199547|PMID:17576681|PMID:22178256|PMID:22495311|PMID:23020937|PMID:23708187|PMID:24207121|PMID:24614520|PMID:24834135|PMID:24859339|PMID:24932903|PMID:25262651|PMID:25326635|PMID:25363768|PMID:25384982|PMID:25418537|PMID:25640679|PMID:25741868|PMID:25783594|PMID:26467025|PMID:26677509|PMID:26754451|PMID:26795593|PMID:27781031|PMID:27824329|PMID:28191889|PMID:28492532|PMID:28910737|PMID:28960266|PMID:29455050|PMID:29720203|PMID:29740950|PMID:29758562|PMID:29933521|PMID:30525188|PMID:30564305|PMID:30868116|PMID:31031587|PMID:31170314|PMID:31332282|PMID:31440721|PMID:31526516|PMID:31618753|PMID:31677157|PMID:31785789|PMID:31981491|PMID:32005694|PMID:32238909|PMID:33004838|PMID:33176815|PMID:33584793|PMID:33619735|PMID:34713950|PMID:34926809|PMID:35222528|PMID:35774528|PMID:36034301|PMID:38003033|PMID:38088023|PMID:39035822|PMID:41383239|PMID:9536098
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0111162	epidermal nevus		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermal nevus	PMID:23708187|PMID:24207121|PMID:25741868|PMID:26467025|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1320737	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1320737	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1320737	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17576681|PMID:25384982|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9326634|PMID:9536098
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1320737	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual disability	PMID:15988005|PMID:17576681|PMID:23708187|PMID:24207121|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28554332|PMID:31273778|PMID:31677157|PMID:31785789|PMID:33004838|PMID:33176815|PMID:34713950|PMID:9536098
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17576681|PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26467025|PMID:26754451|PMID:28492532|PMID:28554332|PMID:31273778|PMID:31677157|PMID:31785789|PMID:33004838|PMID:33176815|PMID:34713950|PMID:9536098
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:10907	microcephaly		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:23708187|PMID:24207121|PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25384982|PMID:8232556|PMID:9326634|PMID:9565609
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:11830	myopia		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25384982|PMID:8232556|PMID:9326634|PMID:9565609
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:23708187|PMID:24207121|PMID:24614520|PMID:25384982|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:31677157|PMID:9326634
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:1824	status epilepticus		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:23708187|PMID:24207121|PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1320737	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:23708187|PMID:29942082
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1320737	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:28960266
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:15988005|PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26467025|PMID:26754451|PMID:26795593|PMID:28074849|PMID:28492532|PMID:28960266|PMID:31677157
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:15988005|PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26467025|PMID:26754451|PMID:26795593|PMID:28074849|PMID:28492532|PMID:28960266|PMID:31677157|PMID:35774528|PMID:39035822
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:23708187|PMID:24207121|PMID:25741868|PMID:26467025|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:1891	optic nerve disease		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25384982|PMID:8232556|PMID:9326634|PMID:9565609
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:255	hemangioma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:3307	teratoma		ISO	RGD:1320737	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Teratoma	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:23708187|PMID:24207121|PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:31677157
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:480	movement disease		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320737	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:23020937|PMID:23708187|PMID:24207121|PMID:25384982|PMID:25741868|PMID:25783594|PMID:26073591|PMID:26467025|PMID:28492532|PMID:28960266|PMID:31677157|PMID:31785789|PMID:33004838|PMID:35774528|PMID:39035822|PMID:39508407|PMID:8232556|PMID:9326634|PMID:9536098|PMID:9565609
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1320737	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:8927	learning disability		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:23708187|PMID:24207121|PMID:25741868|PMID:26467025|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9001722	Dysarthria		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:23708187|PMID:24207121|PMID:24614520|PMID:25384982|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:31677157|PMID:8232556|PMID:9326634|PMID:9565609
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9002916	Hyperphagia		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:25384982|PMID:8232556|PMID:9326634|PMID:9565609
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:31677157
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:23708187|PMID:24207121|PMID:25741868|PMID:26467025|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320737	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320737	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:28960266
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:28960266|PMID:31677157|PMID:35774528|PMID:39035822
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9004866	Ataxia		ISO	RGD:1320737	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	PMID:23708187|PMID:24207121|PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9004898	Jaundice		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9004956	Nocturnal Enuresis		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nocturnal enuresis	PMID:23708187|PMID:24207121|PMID:25741868|PMID:26467025|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25384982|PMID:8232556|PMID:9326634|PMID:9565609
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:23708187|PMID:24207121|PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9007722	Myoclonus		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9007917	Supernumerary Tooth		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teeth, supernumerary	PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:23708187|PMID:24207121|PMID:25384982|PMID:25741868|PMID:28492532|PMID:8232556|PMID:9326634|PMID:9565609
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:936	brain disease		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
1310056	Chd2	chromodomain helicase DNA binding protein 2	gene	DOID:9970	obesity		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25384982|PMID:8232556|PMID:9326634|PMID:9565609
1310057	Eaf1	ELL associated factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310057	Eaf1	ELL associated factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310057	Eaf1	ELL associated factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310057	Eaf1	ELL associated factor 1	gene	DOID:1909	melanoma		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310057	Eaf1	ELL associated factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310057	Eaf1	ELL associated factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310057	Eaf1	ELL associated factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310057	Eaf1	ELL associated factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310057	Eaf1	ELL associated factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310057	Eaf1	ELL associated factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310058	Stx18	syntaxin 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310058	Stx18	syntaxin 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310058	Stx18	syntaxin 18	gene	DOID:10534	stomach cancer		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310058	Stx18	syntaxin 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310058	Stx18	syntaxin 18	gene	DOID:1909	melanoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310058	Stx18	syntaxin 18	gene	DOID:3275	thymoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310058	Stx18	syntaxin 18	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310058	Stx18	syntaxin 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1320740	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310058	Stx18	syntaxin 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310058	Stx18	syntaxin 18	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310058	Stx18	syntaxin 18	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310058	Stx18	syntaxin 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310059	Cers2	ceramide synthase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310059	Cers2	ceramide synthase 2	gene	DOID:11446	sciatic neuropathy		IEP		D	RGD:11041067|PMID:22393241	20220426	RGD		mRNA,protein:decreased expression:sciatic nerve:	
1310059	Cers2	ceramide synthase 2	gene	DOID:1324	lung cancer		ISO	RGD:1320742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310059	Cers2	ceramide synthase 2	gene	DOID:1909	melanoma		ISO	RGD:1320742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310059	Cers2	ceramide synthase 2	gene	DOID:3275	thymoma		ISO	RGD:1320742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310059	Cers2	ceramide synthase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310059	Cers2	ceramide synthase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310059	Cers2	ceramide synthase 2	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1320742	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1310059	Cers2	ceramide synthase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310059	Cers2	ceramide synthase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310060	Myom3	myomesin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310060	Myom3	myomesin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310060	Myom3	myomesin 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310060	Myom3	myomesin 3	gene	DOID:1115	sarcoma		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310060	Myom3	myomesin 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310060	Myom3	myomesin 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310060	Myom3	myomesin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310060	Myom3	myomesin 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310060	Myom3	myomesin 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310060	Myom3	myomesin 3	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310060	Myom3	myomesin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310060	Myom3	myomesin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310060	Myom3	myomesin 3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310060	Myom3	myomesin 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310060	Myom3	myomesin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310060	Myom3	myomesin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310061	Arglu1	arginine and glutamate rich 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310061	Arglu1	arginine and glutamate rich 1	gene	DOID:1324	lung cancer		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310061	Arglu1	arginine and glutamate rich 1	gene	DOID:3275	thymoma		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310061	Arglu1	arginine and glutamate rich 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310061	Arglu1	arginine and glutamate rich 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310062	B4galt5	beta-1,4-galactosyltransferase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310062	B4galt5	beta-1,4-galactosyltransferase 5	gene	DOID:0080600	COVID-19		ISO	RGD:1320747	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1310062	B4galt5	beta-1,4-galactosyltransferase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1320747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310062	B4galt5	beta-1,4-galactosyltransferase 5	gene	DOID:1324	lung cancer		ISO	RGD:1320747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310062	B4galt5	beta-1,4-galactosyltransferase 5	gene	DOID:2377	multiple sclerosis		ISO	RGD:1320747	D	RGD:14390079|PMID:25216636	20190219	RGD		mRNA:increased expression:white matter	
1310062	B4galt5	beta-1,4-galactosyltransferase 5	gene	DOID:3275	thymoma		ISO	RGD:1320747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310062	B4galt5	beta-1,4-galactosyltransferase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1320747	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310062	B4galt5	beta-1,4-galactosyltransferase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310062	B4galt5	beta-1,4-galactosyltransferase 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310062	B4galt5	beta-1,4-galactosyltransferase 5	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1320747	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1310062	B4galt5	beta-1,4-galactosyltransferase 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320747	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:0081082	acute myelomonocytic leukemia		ISO	RGD:1320749	D	RGD:1598998|PMID:11110714	20070110	RGD		treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:10534	stomach cancer		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:1115	sarcoma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:3275	thymoma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:4362	cervical cancer		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:1320749	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:684	hepatocellular carcinoma		IEP		D	RGD:5135537|PMID:6861338	20110726	RGD		protein:increased activity:hepatoma (rat)	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:9003566	Mesothelioma		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:5135485|PMID:3043317	20110722	RGD		protein:increased activity:liver (rat)	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:9005715	Neoplasms, Second Primary		ISO	RGD:1320749	D	RGD:1598998|PMID:11110714	20070110	RGD		treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310063	Gmps	guanosine monophosphate synthase	gene	DOID:9256	colorectal cancer		ISO	RGD:1320749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310064	Rbks	ribokinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310064	Rbks	ribokinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310064	Rbks	ribokinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310065	Cr2	complement C3d receptor 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1310065	Cr2	complement C3d receptor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1310065	Cr2	complement C3d receptor 2	gene	DOID:0081145	common variable immunodeficiency 2		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Immunodeficiency, common variable, 2	PMID:25741868
1310065	Cr2	complement C3d receptor 2	gene	DOID:0081150	common variable immunodeficiency 7		ISO	RGD:1320753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Common variable immunodeficiency 7 | ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 7 | ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 | ClinVar Annotator: match by term: immunodeficiency, common variable, 7	PMID:16199547|PMID:17576681|PMID:22035880|PMID:24033266|PMID:25741868|PMID:26193622|PMID:26325596|PMID:28492532|PMID:28499783|PMID:29148534|PMID:30075290|PMID:34426522|PMID:38817346|PMID:9536098
1310065	Cr2	complement C3d receptor 2	gene	DOID:0081150	common variable immunodeficiency 7	susceptibility	ISO	RGD:1320753	D	RGD:7240710	20260805	OMIM			
1310065	Cr2	complement C3d receptor 2	gene	DOID:10907	microcephaly		ISO	RGD:1320753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22035880|PMID:25741868|PMID:26325596|PMID:28492532|PMID:28499783|PMID:30075290|PMID:34426522|PMID:38817346
1310065	Cr2	complement C3d receptor 2	gene	DOID:11830	myopia		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1310065	Cr2	complement C3d receptor 2	gene	DOID:12176	goiter		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:28492532
1310065	Cr2	complement C3d receptor 2	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1320753	D	RGD:11554173	20190402	CTD		CTD Direct Evidence: marker/mechanism	
1310065	Cr2	complement C3d receptor 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
1310065	Cr2	complement C3d receptor 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1320753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:22035880|PMID:25741868|PMID:26325596|PMID:28492532|PMID:28499783|PMID:30075290|PMID:34426522|PMID:38817346
1310065	Cr2	complement C3d receptor 2	gene	DOID:1826	epilepsy		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1310065	Cr2	complement C3d receptor 2	gene	DOID:1909	melanoma		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310065	Cr2	complement C3d receptor 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1310065	Cr2	complement C3d receptor 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
1310065	Cr2	complement C3d receptor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310065	Cr2	complement C3d receptor 2	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1320753	D	RGD:127338249|PMID:8442917	20210706	RGD		protein:decreased expression:B cell	
1310065	Cr2	complement C3d receptor 2	gene	DOID:5434	scrapie		ISO	RGD:1320754	D	RGD:127285805|PMID:29202042	20210630	RGD			
1310065	Cr2	complement C3d receptor 2	gene	DOID:630	genetic disease		ISO	RGD:1320753	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310065	Cr2	complement C3d receptor 2	gene	DOID:8469	influenza	exacerbates	ISO	RGD:1320754	D	RGD:127338248|PMID:19388171	20210706	RGD			
1310065	Cr2	complement C3d receptor 2	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:11343913|PMID:26502875	20210706	RGD		protein:increased expression:cerebrospinal fluid	
1310065	Cr2	complement C3d receptor 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
1310065	Cr2	complement C3d receptor 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1310065	Cr2	complement C3d receptor 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1310065	Cr2	complement C3d receptor 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:22035880|PMID:25741868|PMID:26325596|PMID:28492532|PMID:28499783|PMID:30075290|PMID:34426522|PMID:38817346
1310065	Cr2	complement C3d receptor 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
1310065	Cr2	complement C3d receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310065	Cr2	complement C3d receptor 2	gene	DOID:9007736	Vertigo		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1310065	Cr2	complement C3d receptor 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22035880|PMID:25741868|PMID:26325596|PMID:28492532|PMID:28499783|PMID:30075290|PMID:34426522|PMID:38817346
1310065	Cr2	complement C3d receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310065	Cr2	complement C3d receptor 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1320753	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310065	Cr2	complement C3d receptor 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CR2-related condition	PMID:17576681|PMID:24029428|PMID:24033266|PMID:25741868|PMID:26325596|PMID:28492532|PMID:28499783|PMID:9536098
1310065	Cr2	complement C3d receptor 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1320754	D	RGD:127285806|PMID:9233655	20210630	RGD		protein:decreased expression:B cell	
1310065	Cr2	complement C3d receptor 2	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1320753	D	RGD:7240710	20260805	OMIM			
1310065	Cr2	complement C3d receptor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310065	Cr2	complement C3d receptor 2	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:1320753	D	RGD:127338247|PMID:23612877	20210706	RGD		DNA:SNP:5'UTR:24T>C (rs3813946)(human)	
1310066	R3hdm2	R3H domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310066	R3hdm2	R3H domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1605089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310066	R3hdm2	R3H domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1605089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310066	R3hdm2	R3H domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310066	R3hdm2	R3H domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605089	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310066	R3hdm2	R3H domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310066	R3hdm2	R3H domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310066	R3hdm2	R3H domain containing 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1605089	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1310066	R3hdm2	R3H domain containing 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605089	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310066	R3hdm2	R3H domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310066	R3hdm2	R3H domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:0050745	diffuse large B-cell lymphoma		ISS	RGD:1552490	D	RGD:13592920	20190725	MouseDO			
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:1115	sarcoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1345810	D	RGD:2302550|PMID:17726579	20081229	RGD		esophageal	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:1909	melanoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:3275	thymoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345810	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310067	Smurf2	SMAD specific E3 ubiquitin protein ligase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1345810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310068	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310068	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:1115	sarcoma		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310068	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:4362	cervical cancer		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310068	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310068	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1320757	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310068	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310068	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310068	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1320757	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Non-Immune hydrops fetalis	PMID:25741868|PMID:26036949
1310068	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310068	Galnt14	polypeptide N-acetylgalactosaminyltransferase 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:15723066|PMID:16199547|PMID:18076122|PMID:21866095|PMID:21901789|PMID:23559409|PMID:25741868|PMID:28041643|PMID:28492532
1310069	Iqcb1	IQ motif containing B1	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Senior Loken syndrome	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:0061279	Senior-Loken syndrome 5		ISO	RGD:1320759	D	RGD:11537383|PMID:15723066	20161003	RGD		DNA:frameshift mutations, nonsense mutations:exon:multiple	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:0061279	Senior-Loken syndrome 5		ISO	RGD:1320759	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:0061279	Senior-Loken syndrome 5		ISO	RGD:1320759	D	RGD:7240710	20130221	OMIM			
1310069	Iqcb1	IQ motif containing B1	gene	DOID:0061279	Senior-Loken syndrome 5		ISO	RGD:1320759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SENIOR-LOKEN SYNDROME 5 | ClinVar Annotator: match by term: Senior-Loken syndrome 5	PMID:15723066|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23559409|PMID:23847139|PMID:24066033|PMID:25525159|PMID:25741868|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:29053603|PMID:29068479|PMID:29219953|PMID:31589614|PMID:31964843|PMID:32531858|PMID:32865313|PMID:36460718
1310069	Iqcb1	IQ motif containing B1	gene	DOID:0110414	retinitis pigmentosa 3	severity	ISO	RGD:1320759	D	RGD:11352374|PMID:22183348	20161003	RGD			
1310069	Iqcb1	IQ motif containing B1	gene	DOID:0110414	retinitis pigmentosa 3	severity	ISO	RGD:1320759	D	RGD:11537386|PMID:21857984	20161003	RGD			
1310069	Iqcb1	IQ motif containing B1	gene	DOID:0111005	cone-rod dystrophy 2		ISO	RGD:12366518	D	RGD:9068941	20250508	OMIA		Retinal atrophy - Cone-rod dystrophy 2	PMID:15064680|PMID:22065099|PMID:24045995|PMID:27506978|PMID:30050836|PMID:33781914|PMID:34954206|PMID:38168165|PMID:38241039|PMID:38334230|PMID:39739008|PMID:39934341
1310069	Iqcb1	IQ motif containing B1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1320759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:15723066|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21866095|PMID:21901789|PMID:23559409|PMID:23847139|PMID:24066033|PMID:25525159|PMID:25741868|PMID:26766544|PMID:28041643|PMID:28492532|PMID:29053603|PMID:29068479|PMID:31589614|PMID:31964843|PMID:32531858|PMID:32865313|PMID:36460718
1310069	Iqcb1	IQ motif containing B1	gene	DOID:10534	stomach cancer		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:1115	sarcoma		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:12712	nephronophthisis		ISO	RGD:1320759	D	RGD:11537341|PMID:18076122	20160929	RGD		DNA:deletion, nonsense mutations, splice-site mutation:exon, intron:multiple	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:12712	nephronophthisis		ISO	RGD:1320759	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:15723066|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25640679|PMID:25741868|PMID:25851290|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098
1310069	Iqcb1	IQ motif containing B1	gene	DOID:12712	nephronophthisis		ISO	RGD:1320759	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:15723066|PMID:17576681|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:25640679|PMID:25741868|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098
1310069	Iqcb1	IQ motif containing B1	gene	DOID:12712	nephronophthisis		ISO	RGD:1320759	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:15723066|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:25640679|PMID:25741868|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098
1310069	Iqcb1	IQ motif containing B1	gene	DOID:12712	nephronophthisis		ISO	RGD:1320759	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:15723066|PMID:16199547|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25640679|PMID:25741868|PMID:25851290|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27506978|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:29186038|PMID:29219953|PMID:30718709|PMID:32531858|PMID:9536098
1310069	Iqcb1	IQ motif containing B1	gene	DOID:12712	nephronophthisis		ISO	RGD:1320759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:15723066|PMID:16199547|PMID:17576681|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23559409|PMID:23847139|PMID:24066033|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26673778|PMID:26766544|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29068479|PMID:29186038|PMID:29219953|PMID:31589614|PMID:31964843|PMID:32531858|PMID:32865313|PMID:36460718|PMID:9536098
1310069	Iqcb1	IQ motif containing B1	gene	DOID:1324	lung cancer		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320759	D	RGD:11537384|PMID:21220633	20161003	RGD		DNA:deletions, nonsense mutations:cds:multiple	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320759	D	RGD:11537385|PMID:21901789	20161003	RGD		DNA:nonsense mutation:splice-site mutation:cds, intron:p.Y493X (c.1479C>A), c.1130-1G>C (human)	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:15723066|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21866095|PMID:21901789|PMID:23559409|PMID:23847139|PMID:24066033|PMID:25525159|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29053603|PMID:31589614|PMID:31964843|PMID:32865313|PMID:36460718
1310069	Iqcb1	IQ motif containing B1	gene	DOID:14791	Leber congenital amaurosis		ISS	RGD:1551428	D	RGD:13592920	20251016	MouseDO			
1310069	Iqcb1	IQ motif containing B1	gene	DOID:1909	melanoma		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:2394	ovarian cancer		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:3275	thymoma		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:4362	cervical cancer		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320759	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:5679	retinal disease		ISO	RGD:1320759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:15723066|PMID:20881296|PMID:21901789|PMID:23559409|PMID:28041643|PMID:28492532
1310069	Iqcb1	IQ motif containing B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:630	genetic disease		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310069	Iqcb1	IQ motif containing B1	gene	DOID:783	end stage renal disease		ISO	RGD:1320759	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:15723066|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21866095|PMID:21901789|PMID:23559409|PMID:23847139|PMID:24066033|PMID:25525159|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29053603|PMID:31589614|PMID:31964843|PMID:32865313|PMID:36460718
1310069	Iqcb1	IQ motif containing B1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1320759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:15723066|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24066033|PMID:25525159|PMID:25741868|PMID:25851290|PMID:26673778|PMID:26766544|PMID:28041643|PMID:28492532|PMID:29053603|PMID:29068479|PMID:30087219|PMID:30609409|PMID:31589614|PMID:31964843|PMID:32531858|PMID:32865313|PMID:36460718
1310069	Iqcb1	IQ motif containing B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310069	Iqcb1	IQ motif containing B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310070	Cops7a	COP9 signalosome subunit 7A	gene	DOID:4362	cervical cancer		ISO	RGD:1320761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310070	Cops7a	COP9 signalosome subunit 7A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310070	Cops7a	COP9 signalosome subunit 7A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310070	Cops7a	COP9 signalosome subunit 7A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1320761	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1310070	Cops7a	COP9 signalosome subunit 7A	gene	DOID:9000918	Disease Progression		ISO	RGD:1320761	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1310070	Cops7a	COP9 signalosome subunit 7A	gene	DOID:9003566	Mesothelioma		ISO	RGD:1320761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1310070	Cops7a	COP9 signalosome subunit 7A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310071	Rbm39	RNA binding motif protein 39	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310071	Rbm39	RNA binding motif protein 39	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310071	Rbm39	RNA binding motif protein 39	gene	DOID:10534	stomach cancer		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310071	Rbm39	RNA binding motif protein 39	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310071	Rbm39	RNA binding motif protein 39	gene	DOID:1115	sarcoma		ISO	RGD:1320763	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310071	Rbm39	RNA binding motif protein 39	gene	DOID:1324	lung cancer		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310071	Rbm39	RNA binding motif protein 39	gene	DOID:3275	thymoma		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310071	Rbm39	RNA binding motif protein 39	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310071	Rbm39	RNA binding motif protein 39	gene	DOID:4362	cervical cancer		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310071	Rbm39	RNA binding motif protein 39	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310071	Rbm39	RNA binding motif protein 39	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310071	Rbm39	RNA binding motif protein 39	gene	DOID:6039	uveal melanoma		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310071	Rbm39	RNA binding motif protein 39	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310071	Rbm39	RNA binding motif protein 39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310073	Tmc2	transmembrane channel-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310073	Tmc2	transmembrane channel-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320766	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310073	Tmc2	transmembrane channel-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310073	Tmc2	transmembrane channel-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310073	Tmc2	transmembrane channel-like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310073	Tmc2	transmembrane channel-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310073	Tmc2	transmembrane channel-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310073	Tmc2	transmembrane channel-like 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1320766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310074	Pycr2	pyrroline-5-carboxylate reductase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310074	Pycr2	pyrroline-5-carboxylate reductase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310074	Pycr2	pyrroline-5-carboxylate reductase 2	gene	DOID:0060788	hypomyelinating leukodystrophy 10		ISO	RGD:1320768	D	RGD:7240710	20170503	OMIM			
1310074	Pycr2	pyrroline-5-carboxylate reductase 2	gene	DOID:0060788	hypomyelinating leukodystrophy 10		ISO	RGD:1320768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10 | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 10 | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 10	PMID:25741868|PMID:25865492|PMID:27130255|PMID:27860360|PMID:28492532|PMID:30125339|PMID:33771508|PMID:34055512|PMID:36548190|PMID:38709052
1310074	Pycr2	pyrroline-5-carboxylate reductase 2	gene	DOID:0070297	primary microcephaly		ISO	RGD:1320768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
1310074	Pycr2	pyrroline-5-carboxylate reductase 2	gene	DOID:10579	leukodystrophy		ISO	RGD:1320768	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868|PMID:27130255|PMID:27860360|PMID:28492532
1310074	Pycr2	pyrroline-5-carboxylate reductase 2	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1320768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metachromatic leukodystrophy	PMID:25741868
1310074	Pycr2	pyrroline-5-carboxylate reductase 2	gene	DOID:10907	microcephaly		ISO	RGD:1320768	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1310074	Pycr2	pyrroline-5-carboxylate reductase 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1320768	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1310074	Pycr2	pyrroline-5-carboxylate reductase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320768	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310074	Pycr2	pyrroline-5-carboxylate reductase 2	gene	DOID:630	genetic disease		ISO	RGD:1320768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310074	Pycr2	pyrroline-5-carboxylate reductase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310075	Vnn1	vanin 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1320770	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:17145956
1310075	Vnn1	vanin 1	gene	DOID:10608	celiac disease		ISO	RGD:1320770	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
1310075	Vnn1	vanin 1	gene	DOID:1324	lung cancer		ISO	RGD:1320770	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310075	Vnn1	vanin 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:1320770	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19322213
1310075	Vnn1	vanin 1	gene	DOID:3498	pancreatic ductal adenocarcinoma	disease_progression	ISO	RGD:1320770	D	RGD:151660329|PMID:32663515	20220303	RGD		protein:increased expression:blood (human)	
1310075	Vnn1	vanin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320770	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310075	Vnn1	vanin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310075	Vnn1	vanin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310075	Vnn1	vanin 1	gene	DOID:8893	psoriasis		ISO	RGD:1320770	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19322213
1310075	Vnn1	vanin 1	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1320770	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17873875
1310075	Vnn1	vanin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310075	Vnn1	vanin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310077	B3gnt2	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	gene	DOID:12361	Graves' disease		ISO	RGD:1320774	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446963
1310077	B3gnt2	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310077	B3gnt2	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1320774	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446963
1310078	Sarm1	sterile alpha and TIR motif containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310078	Sarm1	sterile alpha and TIR motif containing 1	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1320776	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24478430
1310078	Sarm1	sterile alpha and TIR motif containing 1	gene	DOID:3275	thymoma		ISO	RGD:1320776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310078	Sarm1	sterile alpha and TIR motif containing 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1320776	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
1310078	Sarm1	sterile alpha and TIR motif containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310078	Sarm1	sterile alpha and TIR motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310078	Sarm1	sterile alpha and TIR motif containing 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1320776	D	RGD:11554173	20230905	CTD		CTD Direct Evidence: therapeutic	PMID:35163535
1310079	Sema3b	semaphorin 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310079	Sema3b	semaphorin 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310079	Sema3b	semaphorin 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310079	Sema3b	semaphorin 3B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310079	Sema3b	semaphorin 3B	gene	DOID:1115	sarcoma		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310079	Sema3b	semaphorin 3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310079	Sema3b	semaphorin 3B	gene	DOID:302	substance abuse		ISO	RGD:1320778	D	RGD:597830175|PMID:17205118	20250715	RGD		mRNA:increased expression:brain	
1310079	Sema3b	semaphorin 3B	gene	DOID:3275	thymoma		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310079	Sema3b	semaphorin 3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1320778	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310079	Sema3b	semaphorin 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310079	Sema3b	semaphorin 3B	gene	DOID:769	neuroblastoma		ISO	RGD:1320778	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17452250
1310079	Sema3b	semaphorin 3B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320778	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1310079	Sema3b	semaphorin 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310079	Sema3b	semaphorin 3B	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1320778	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21933904
1310079	Sema3b	semaphorin 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310080	Ccdc116	coiled-coil domain containing 116	gene	DOID:10534	stomach cancer		ISO	RGD:1602289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomach cancer	
1310080	Ccdc116	coiled-coil domain containing 116	gene	DOID:1324	lung cancer		ISO	RGD:1602289	D	RGD:153297750|PMID:29193083	20220721	RGD		DNA:SNP:promoter:rs3747093 (human)	
1310080	Ccdc116	coiled-coil domain containing 116	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1606513	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:22425360|PMID:24033266|PMID:24091540|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25741868|PMID:25877302|PMID:26092869|PMID:27434533|PMID:28431631|PMID:28492532|PMID:29146704|PMID:29605658|PMID:32233090|PMID:34008892|PMID:34091942|PMID:36305856|PMID:36580738|PMID:36789003|PMID:38003592
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0050847	sleep apnea		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:24178751|PMID:25741868|PMID:28492532|PMID:31158925|PMID:36233161
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0060058	lymphoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0060376	Joubert syndrome with orofaciodigital defect		ISO	RGD:1606513	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0060376	Joubert syndrome with orofaciodigital defect		ISO	RGD:1606513	D	RGD:7240710	20171011	OMIM			
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0060376	Joubert syndrome with orofaciodigital defect		ISO	RGD:1606513	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 6 | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION | ClinVar Annotator: match by term: VARADI SYNDROME | ClinVar Annotator: match by term: Varadi-Papp syndrome	PMID:10488899|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301500|PMID:21679365|PMID:22236771|PMID:22425360|PMID:22693042|PMID:23523602|PMID:24033266|PMID:24091540|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25558065|PMID:25741868|PMID:25846457|PMID:25877302|PMID:25920555|PMID:26092869|PMID:26477546|PMID:27081551|PMID:27158779|PMID:27434533|PMID:28087721|PMID:28125082|PMID:28289185|PMID:28431631|PMID:28454995|PMID:28492532|PMID:28518168|PMID:28771248|PMID:28976722|PMID:29146704|PMID:29321670|PMID:29605658|PMID:29955609|PMID:30408610|PMID:30919572|PMID:31130284|PMID:31158925|PMID:31216405|PMID:31980526|PMID:32037395|PMID:32233090|PMID:32461654|PMID:33176815|PMID:33774617|PMID:34008892|PMID:34091942|PMID:35582950|PMID:36305856|PMID:36413997|PMID:38003592|PMID:9536098
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0060376	Joubert syndrome with orofaciodigital defect		ISO	RGD:1606513	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME VI | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 6 | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndrome	PMID:16199547|PMID:22425360|PMID:22693042|PMID:24091540|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25741868|PMID:25877302|PMID:25920555|PMID:26092869|PMID:27081551|PMID:27158779|PMID:27434533|PMID:28431631|PMID:28492532|PMID:28518168|PMID:28771248|PMID:28976722|PMID:29146704|PMID:29321670|PMID:29605658|PMID:29955609|PMID:31980526|PMID:32461654|PMID:33176815|PMID:33774617|PMID:35582950|PMID:36305856|PMID:36580738|PMID:38003592|PMID:39394465
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606513	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:22425360|PMID:24178751|PMID:25741868|PMID:25877302|PMID:26092869|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0110986	Joubert Syndrome 17		ISO	RGD:1320782	D	RGD:11537349|PMID:25877302	20160930	RGD		DNA:missense mutation: :p.S235P (mouse)	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0110986	Joubert Syndrome 17		ISO	RGD:1606513	D	RGD:7240710	20140911	OMIM			
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0110986	Joubert Syndrome 17		ISO	RGD:1606513	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CPLANE1-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 17 | ClinVar Annotator: match by term: Joubert syndrome 17	PMID:16199547|PMID:17576681|PMID:18414213|PMID:22264561|PMID:22425360|PMID:22693042|PMID:23911319|PMID:24091540|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25741868|PMID:25877302|PMID:25920555|PMID:26092869|PMID:26477546|PMID:27081551|PMID:27158779|PMID:27434533|PMID:28125082|PMID:28289185|PMID:28431631|PMID:28454995|PMID:28492532|PMID:28518168|PMID:28771248|PMID:28976722|PMID:29146704|PMID:29321670|PMID:29605658|PMID:29955609|PMID:30919572|PMID:31158925|PMID:31216405|PMID:31308072|PMID:31980526|PMID:32373664|PMID:32461654|PMID:33176815|PMID:33774617|PMID:34008892|PMID:35582950|PMID:36233161|PMID:36413997|PMID:36580738|PMID:36763876|PMID:39394465|PMID:9536098
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0110986	Joubert Syndrome 17		ISS	RGD:1320782	D	RGD:13592920	20230718	MouseDO		OMIM:614615	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0112072	nuclear type mitochondrial complex I deficiency 20		ISO	RGD:1606513	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20	PMID:22693042|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:33176815
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0112072	nuclear type mitochondrial complex I deficiency 20		ISO	RGD:1606513	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20	PMID:22425360|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25741868|PMID:26092869|PMID:28492532|PMID:29146704
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:0112072	nuclear type mitochondrial complex I deficiency 20		ISO	RGD:1606513	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20	PMID:20301500|PMID:22425360|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25741868|PMID:25920555|PMID:26092869|PMID:28492532|PMID:29146704|PMID:29605658|PMID:30408610|PMID:31130284|PMID:32233090
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:24178751|PMID:25741868|PMID:28492532|PMID:31158925|PMID:36233161
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:10907	microcephaly		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:26092869|PMID:34008892
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:11714	gestational diabetes		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:11830	myopia		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:12849	autistic disorder		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1606513	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:22425360|PMID:23012439|PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:3347	osteosarcoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteosarcoma	PMID:22425360|PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606513	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:535	sleep disorder		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1606513	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:21679365|PMID:22236771|PMID:22425360|PMID:24178751|PMID:25407461|PMID:25741868|PMID:25846457|PMID:25920555|PMID:26092869|PMID:28492532|PMID:28518168|PMID:28771248|PMID:29146704|PMID:29321670|PMID:31980526|PMID:32461654|PMID:33774617|PMID:39394465
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9000837	Esophageal Stenosis		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal stenosis	PMID:25741868
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9000983	Encephalocele		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Occipital encephalocele	PMID:25741868|PMID:26092869|PMID:34008892
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restlessness	PMID:24178751|PMID:25741868|PMID:28492532|PMID:31158925|PMID:36233161
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:24178751|PMID:25741868|PMID:28492532|PMID:31158925|PMID:36233161
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:26092869|PMID:34008892
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:31158925|PMID:34008892|PMID:36233161
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9004866	Ataxia		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:24178751|PMID:25741868|PMID:28492532|PMID:31158925|PMID:36233161
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9004898	Jaundice		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868|PMID:26092869|PMID:34008892
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606513	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:31980526|PMID:33774617|PMID:34008892
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606513	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:31158925|PMID:31980526|PMID:33774617|PMID:34008892|PMID:36233161
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:31158925|PMID:34008892|PMID:36233161
1310081	Cplane1	ciliogenesis and planar polarity effector complex subunit 1	gene	DOID:9970	obesity		ISO	RGD:1606513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:26092869|PMID:34008892
1310083	Cwf19l2	CWF19 like cell cycle control factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310083	Cwf19l2	CWF19 like cell cycle control factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310083	Cwf19l2	CWF19 like cell cycle control factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310083	Cwf19l2	CWF19 like cell cycle control factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310083	Cwf19l2	CWF19 like cell cycle control factor 2	gene	DOID:1909	melanoma		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310083	Cwf19l2	CWF19 like cell cycle control factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310083	Cwf19l2	CWF19 like cell cycle control factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320784	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310083	Cwf19l2	CWF19 like cell cycle control factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310083	Cwf19l2	CWF19 like cell cycle control factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310083	Cwf19l2	CWF19 like cell cycle control factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310083	Cwf19l2	CWF19 like cell cycle control factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310084	Dok4	docking protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310084	Dok4	docking protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310084	Dok4	docking protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310084	Dok4	docking protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310084	Dok4	docking protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310084	Dok4	docking protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310087	Fktn	fukutin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310087	Fktn	fukutin	gene	DOID:0050559	Fukuyama congenital muscular dystrophy		ISO	RGD:1320791	D	RGD:11537476|PMID:11445638	20170109	RGD			
1310087	Fktn	fukutin	gene	DOID:0050559	Fukuyama congenital muscular dystrophy		ISO	RGD:1320791	D	RGD:7240710	20130221	OMIM			
1310087	Fktn	fukutin	gene	DOID:0050559	Fukuyama congenital muscular dystrophy		ISO	RGD:1320791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED | ClinVar Annotator: match by term: Walker-Warburg Syndrome, Fktn-Related	PMID:14627679|PMID:17044012|PMID:17559086|PMID:17878207|PMID:18752264|PMID:19015585|PMID:20620061|PMID:21102627|PMID:23582336|PMID:24033266|PMID:24144914|PMID:25741868|PMID:26350204|PMID:26467025|PMID:28492532|PMID:28680109|PMID:29590070|PMID:35026164|PMID:35131284|PMID:37227348|PMID:9
1310087	Fktn	fukutin	gene	DOID:0050559	Fukuyama congenital muscular dystrophy		ISS	RGD:1320792	D	RGD:13592920	20230718	MouseDO		OMIM:253800	
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:11062579|PMID:10545611	20170109	RGD		DNA:missense mutation, nonsense mutation, insertions: :multiple	
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:11554173	20170822	CTD		CTD Direct Evidence: marker/mechanism	
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:11576320|PMID:19266496	20170109	RGD		DNA:insertion:exon:c.1167insA (human)	
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:1598929|PMID:9690476	20070103	RGD			
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:30060766|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:30060766|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31756055|PMID:31862442|PMID:31983221|PMID:32746448|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:35131284|PMID:35175440|PMID:9536098|PMID:9690476
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21191726|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29101272|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31534214|PMID:31742715|PMID:31756055|PMID:31862442|PMID:31983221|PMID:32721234|PMID:32746448|PMID:32969603|PMID:33048919|PMID:33200426|PMID:34008892|PMID:34120883|PMID:35026164|PMID:35131284|PMID:35175440|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:37834164|PMID:9536098|PMID:9690476
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21191726|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29101272|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31534214|PMID:31742715|PMID:31756055|PMID:31862442|PMID:31983221|PMID:32721234|PMID:32746448|PMID:32969603|PMID:33048919|PMID:33200426|PMID:34008892|PMID:34120883|PMID:35026164|PMID:35131284|PMID:35175440|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:37227348|PMID:37834164|PMID:9|PMID:9536098|PMID:9690476
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21191726|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27332903|PMID:27357428|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29101272|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30775854|PMID:30975432|PMID:31534214|PMID:31742715|PMID:31756055|PMID:31862442|PMID:31983221|PMID:32721234|PMID:32746448|PMID:32969603|PMID:33048919|PMID:33200426|PMID:34008892|PMID:34120883|PMID:35026164|PMID:35131284|PMID:35175440|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:37227348|PMID:37834164|PMID:9|PMID:9536098|PMID:9690476
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22275357|PMID:22522420|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26467025|PMID:26633542|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27332903|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28785732|PMID:29101272|PMID:29447731|PMID:30060766|PMID:31742715|PMID:31756055|PMID:31983221|PMID:32721234|PMID:32746448|PMID:33200426|PMID:34008892|PMID:35131284|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:36964972|PMID:37087885|PMID:37834164|PMID:38634212|PMID:4645488|PMID:9536098|PMID:9690476
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21520333|PMID:22275357|PMID:22522420|PMID:23582336|PMID:23746544|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26467025|PMID:26633542|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27332903|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28785732|PMID:29101272|PMID:29447731|PMID:30060766|PMID:31742715|PMID:31756055|PMID:31983221|PMID:32721234|PMID:32746448|PMID:33200426|PMID:34008892|PMID:35131284|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:36964972|PMID:37087885|PMID:37834164|PMID:38634212|PMID:4645488|PMID:9536098|PMID:9690476
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17878207|PMID:18177472|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21520333|PMID:22275357|PMID:22522420|PMID:23582336|PMID:23746544|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26467025|PMID:26633542|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27332903|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28785732|PMID:29101272|PMID:29447731|PMID:30060766|PMID:31742715|PMID:31756055|PMID:31983221|PMID:32721234|PMID:32746448|PMID:33200426|PMID:34008892|PMID:35131284|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:36964972|PMID:37087885|PMID:37834164|PMID:38634212|PMID:4645488|PMID:9536098|PMID:9690476
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle-eye-brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21520333|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26467025|PMID:26633542|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27332903|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:29101272|PMID:29447731|PMID:30060766|PMID:30775854|PMID:31742715|PMID:31756055|PMID:31983221|PMID:32721234|PMID:32746448|PMID:33200426|PMID:34008892|PMID:35131284|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:36199823|PMID:36964972|PMID:37087885|PMID:37834164|PMID:38634212|PMID:4645488|PMID:9536098|PMID:9690476
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21520333|PMID:22275357|PMID:22522420|PMID:23582336|PMID:23746544|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28785732|PMID:29101272|PMID:29447731|PMID:29590070|PMID:30060766|PMID:31742715|PMID:31756055|PMID:31983221|PMID:32721234|PMID:32746448|PMID:33200426|PMID:34008892|PMID:35026164|PMID:35131284|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:36964972|PMID:37087885|PMID:37227348|PMID:37834164|PMID:38634212|PMID:4645488|PMID:9|PMID:9536098|PMID:9690476
1310087	Fktn	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320792	D	RGD:11537406|PMID:24824861	20170111	RGD			
1310087	Fktn	fukutin	gene	DOID:0050588	muscular dystrophy-dystroglycanopathy type B1		ISS	RGD:1320792	D	RGD:13592920	20220602	MouseDO		OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094	
1310087	Fktn	fukutin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1320791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:14627679|PMID:17878207|PMID:21102627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30775854|PMID:36199823
1310087	Fktn	fukutin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1320791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:14627679|PMID:17878207|PMID:21102627|PMID:25741868|PMID:26467025|PMID:28492532
1310087	Fktn	fukutin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1310087	Fktn	fukutin	gene	DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L		ISO	RGD:1320791	D	RGD:11576328|PMID:17044012	20170110	RGD		DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human)	
1310087	Fktn	fukutin	gene	DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M		ISO	RGD:1320791	D	RGD:7240710	20130221	OMIM			
1310087	Fktn	fukutin	gene	DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M		ISO	RGD:1320791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2M | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4	PMID:10545611|PMID:17044012|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19266496|PMID:19342235|PMID:20620061|PMID:20961758|PMID:22275357|PMID:23582336|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25821721|PMID:26350204|PMID:26467025|PMID:27065010|PMID:28492532|PMID:28680109|PMID:29590070|PMID:30060766|PMID:35026164|PMID:35131284|PMID:37227348|PMID:9
1310087	Fktn	fukutin	gene	DOID:0110443	dilated cardiomyopathy 1B		ISO	RGD:1320791	D	RGD:11576324|PMID:17036286	20170109	RGD		DNA:insertion, missense mutations:exon:p.R179T (c.536G>C), p.Q358P (c.1073A>C) (human)	
1310087	Fktn	fukutin	gene	DOID:0110444	dilated cardiomyopathy 1X		ISO	RGD:1320791	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310087	Fktn	fukutin	gene	DOID:0110444	dilated cardiomyopathy 1X		ISO	RGD:1320791	D	RGD:7240710	20130425	OMIM			
1310087	Fktn	fukutin	gene	DOID:0110444	dilated cardiomyopathy 1X		ISO	RGD:1320791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1X | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Dilated cardiomyopathy 1X	PMID:10545611|PMID:14627679|PMID:16199547|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:20620061|PMID:20961758|PMID:21102627|PMID:22275357|PMID:22522420|PMID:23582336|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25821721|PMID:26350204|PMID:26467025|PMID:27065010|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28785732|PMID:29590070|PMID:30060766|PMID:33200426|PMID:35026164|PMID:35131284|PMID:36005429|PMID:37087885|PMID:37227348|PMID:9|PMID:9536098
1310087	Fktn	fukutin	gene	DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1		ISO	RGD:1320791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19266496|PMID:20620061|PMID:23582336|PMID:24033266|PMID:24144914|PMID:25741868|PMID:26467025|PMID:27065010|PMID:28492532|PMID:28680109|PMID:35131284
1310087	Fktn	fukutin	gene	DOID:0112374	muscular dystrophy-dystroglycanopathy		ISO	RGD:1320791	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy	PMID:17559086|PMID:17878207|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1310087	Fktn	fukutin	gene	DOID:0112379	muscular dystrophy-dystroglycanopathy type B4		ISO	RGD:1320791	D	RGD:7240710	20130221	OMIM			
1310087	Fktn	fukutin	gene	DOID:0112379	muscular dystrophy-dystroglycanopathy type B4		ISO	RGD:1320791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED	PMID:10545611|PMID:17044012|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19266496|PMID:19396839|PMID:20620061|PMID:20961758|PMID:22275357|PMID:23582336|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25821721|PMID:26350204|PMID:26467025|PMID:27065010|PMID:28492532|PMID:28680109|PMID:29590070|PMID:30060766|PMID:35026164|PMID:35131284|PMID:37227348|PMID:9
1310087	Fktn	fukutin	gene	DOID:10534	stomach cancer		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310087	Fktn	fukutin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310087	Fktn	fukutin	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:25741868
1310087	Fktn	fukutin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320791	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17597323|PMID:25741868|PMID:26633542|PMID:28492532
1310087	Fktn	fukutin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320791	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:26633542|PMID:28492532
1310087	Fktn	fukutin	gene	DOID:4362	cervical cancer		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310087	Fktn	fukutin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310087	Fktn	fukutin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310087	Fktn	fukutin	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1320791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:24144914|PMID:25741868|PMID:27065010|PMID:28492532
1310087	Fktn	fukutin	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1320791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:24144914|PMID:25741868|PMID:27065010|PMID:28492532
1310087	Fktn	fukutin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:24144914|PMID:25741868|PMID:27065010|PMID:28492532
1310087	Fktn	fukutin	gene	DOID:9006181	Congenital Muscular Dystrophy with Central Nervous System Involvement		ISO	RGD:1320791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement	PMID:14627679|PMID:17044012|PMID:17559086|PMID:17878207|PMID:18752264|PMID:19015585|PMID:21102627|PMID:23582336|PMID:24033266|PMID:24144914|PMID:25741868|PMID:26350204|PMID:26467025|PMID:28492532|PMID:29590070|PMID:35026164|PMID:37227348|PMID:9
1310087	Fktn	fukutin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310087	Fktn	fukutin	gene	DOID:9007661	Dwarfism		ISO	RGD:1320791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:24144914|PMID:25741868|PMID:27065010|PMID:28492532
1310087	Fktn	fukutin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:24144914|PMID:25741868|PMID:27065010|PMID:28492532
1310087	Fktn	fukutin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
1310087	Fktn	fukutin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310087	Fktn	fukutin	gene	DOID:93	language disorder		ISO	RGD:1320791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:24144914|PMID:25741868|PMID:27065010|PMID:28492532
1310087	Fktn	fukutin	gene	DOID:9884	muscular dystrophy		ISO	RGD:1320791	D	RGD:11070464|PMID:20961758	20170109	RGD		DNA:deletion, missense mutations, nonsense mutation:exon, intron:multiple	
1310087	Fktn	fukutin	gene	DOID:9884	muscular dystrophy		ISO	RGD:1320791	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16531417
1310087	Fktn	fukutin	gene	DOID:9884	muscular dystrophy		ISO	RGD:1320791	D	RGD:11576323|PMID:19179078	20170109	RGD		DNA:missense mutations, nonsense mutation:exon:multiple	
1310087	Fktn	fukutin	gene	DOID:9884	muscular dystrophy		ISO	RGD:1320791	D	RGD:11576325|PMID:19342235	20170109	RGD		DNA:missense mutations:exon:c.340G>A, c.527T>C (human)	
1310087	Fktn	fukutin	gene	DOID:9884	muscular dystrophy		ISO	RGD:1320791	D	RGD:11576326|PMID:10852541	20170109	RGD			
1310087	Fktn	fukutin	gene	DOID:9884	muscular dystrophy		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
1310087	Fktn	fukutin	gene	DOID:9997	peripartum cardiomyopathy		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripartum cardiomyopathy	PMID:25741868|PMID:28492532
1310088	Atp6v1g1	ATPase H+ transporting V1 subunit G1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310088	Atp6v1g1	ATPase H+ transporting V1 subunit G1	gene	DOID:10534	stomach cancer		ISO	RGD:1320793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310088	Atp6v1g1	ATPase H+ transporting V1 subunit G1	gene	DOID:1115	sarcoma		ISO	RGD:1320793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310088	Atp6v1g1	ATPase H+ transporting V1 subunit G1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310089	Cables2	Cdk5 and Abl enzyme substrate 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345026	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310089	Cables2	Cdk5 and Abl enzyme substrate 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310089	Cables2	Cdk5 and Abl enzyme substrate 2	gene	DOID:1115	sarcoma		ISO	RGD:1345026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310089	Cables2	Cdk5 and Abl enzyme substrate 2	gene	DOID:1324	lung cancer		ISO	RGD:1345026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310089	Cables2	Cdk5 and Abl enzyme substrate 2	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1345026	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1310089	Cables2	Cdk5 and Abl enzyme substrate 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310089	Cables2	Cdk5 and Abl enzyme substrate 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310089	Cables2	Cdk5 and Abl enzyme substrate 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310090	Dusp26	dual specificity phosphatase 26	gene	DOID:3275	thymoma		ISO	RGD:1604602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310090	Dusp26	dual specificity phosphatase 26	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1604602	D	RGD:617256321|PMID:34517527	20250724	RGD		mRNA:decreased expression:lung	
1310090	Dusp26	dual specificity phosphatase 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320797	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:1115	sarcoma		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:1324	lung cancer		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:1909	melanoma		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:3275	thymoma		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320797	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:1320797	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310091	Wwp2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310092	Nipal1	NIPA-like domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310092	Nipal1	NIPA-like domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310092	Nipal1	NIPA-like domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310092	Nipal1	NIPA-like domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310092	Nipal1	NIPA-like domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310092	Nipal1	NIPA-like domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310093	Dhx58	DEXH-box helicase 58	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310093	Dhx58	DEXH-box helicase 58	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310093	Dhx58	DEXH-box helicase 58	gene	DOID:10534	stomach cancer		ISO	RGD:1603964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310093	Dhx58	DEXH-box helicase 58	gene	DOID:1826	epilepsy		ISO	RGD:1603964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1310093	Dhx58	DEXH-box helicase 58	gene	DOID:4362	cervical cancer		ISO	RGD:1603964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310093	Dhx58	DEXH-box helicase 58	gene	DOID:5041	esophageal cancer		ISO	RGD:1603964	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310093	Dhx58	DEXH-box helicase 58	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310093	Dhx58	DEXH-box helicase 58	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310094	Thap6	THAP domain containing 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310094	Thap6	THAP domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310094	Thap6	THAP domain containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310096	Arpc4	actin related protein 2/3 complex, subunit 4	gene	DOID:14250	Down syndrome		ISO	RGD:1320803	D	RGD:11570562|PMID:12054546	20161220	RGD		protein:decreased expression:cerebral cortex (human)	
1310096	Arpc4	actin related protein 2/3 complex, subunit 4	gene	DOID:8893	psoriasis		ISS	RGD:1320804	D	RGD:13592920	20190822	MouseDO		OMIM:177900 | OMIM:601454 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106	
1310096	Arpc4	actin related protein 2/3 complex, subunit 4	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:8803523	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:mucosa of middle ear	PMID:26711468|REF_RGD_ID:11553828
1310096	Arpc4	actin related protein 2/3 complex, subunit 4	gene	DOID:9005464	Developmental Delay, Language Impairment, and Ocular Abnormalities		ISO	RGD:1320803	D	RGD:7240710	20221214	OMIM			
1310097	Rnf111	ring finger protein 111	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310097	Rnf111	ring finger protein 111	gene	DOID:10534	stomach cancer		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310097	Rnf111	ring finger protein 111	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310097	Rnf111	ring finger protein 111	gene	DOID:1324	lung cancer		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310097	Rnf111	ring finger protein 111	gene	DOID:1909	melanoma		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310097	Rnf111	ring finger protein 111	gene	DOID:3275	thymoma		ISO	RGD:1320805	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310097	Rnf111	ring finger protein 111	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310097	Rnf111	ring finger protein 111	gene	DOID:4362	cervical cancer		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310097	Rnf111	ring finger protein 111	gene	DOID:5426	primary ovarian insufficiency		ISS	RGD:1320806	D	RGD:13592920	20250313	MouseDO			
1310097	Rnf111	ring finger protein 111	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310097	Rnf111	ring finger protein 111	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320805	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310097	Rnf111	ring finger protein 111	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310097	Rnf111	ring finger protein 111	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310097	Rnf111	ring finger protein 111	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310099	Rbm8a	RNA binding motif protein 8A	gene	DOID:14699	thrombocytopenia-absent radius syndrome		ISO	RGD:1320809	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22366785
1310099	Rbm8a	RNA binding motif protein 8A	gene	DOID:14699	thrombocytopenia-absent radius syndrome		ISO	RGD:1320809	D	RGD:7240710	20130731	OMIM			
1310099	Rbm8a	RNA binding motif protein 8A	gene	DOID:14699	thrombocytopenia-absent radius syndrome		ISO	RGD:1320809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome | ClinVar Annotator: match by term: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME | ClinVar Annotator: match by term: Thrombocytopenia Absent Radius Syndrome	PMID:16501574|PMID:17236129|PMID:17576681|PMID:20301781|PMID:22366785|PMID:23754559|PMID:24220582|PMID:25741868|PMID:27846804|PMID:28492532|PMID:32227665|PMID:33559987|PMID:33718801|PMID:34341987|PMID:36077017|PMID:37644014|PMID:9536098
1310099	Rbm8a	RNA binding motif protein 8A	gene	DOID:1588	thrombocytopenia		ISO	RGD:1320809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:34355501
1310099	Rbm8a	RNA binding motif protein 8A	gene	DOID:630	genetic disease		ISO	RGD:1320809	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20301781|PMID:25741868|PMID:32227665|PMID:33559987|PMID:33718801|PMID:34341987|PMID:37644014
1310099	Rbm8a	RNA binding motif protein 8A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310101	Tor3a	torsin family 3, member A	gene	DOID:4362	cervical cancer		ISO	RGD:1320812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310101	Tor3a	torsin family 3, member A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310101	Tor3a	torsin family 3, member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1320812	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310101	Tor3a	torsin family 3, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310101	Tor3a	torsin family 3, member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310101	Tor3a	torsin family 3, member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310102	Hnf4g	hepatocyte nuclear factor 4, gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310102	Hnf4g	hepatocyte nuclear factor 4, gamma	gene	DOID:1115	sarcoma		ISO	RGD:1320814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310102	Hnf4g	hepatocyte nuclear factor 4, gamma	gene	DOID:1324	lung cancer		ISO	RGD:1320814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310102	Hnf4g	hepatocyte nuclear factor 4, gamma	gene	DOID:1909	melanoma		ISO	RGD:1320814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310102	Hnf4g	hepatocyte nuclear factor 4, gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1320814	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310102	Hnf4g	hepatocyte nuclear factor 4, gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310103	Ttyh1	tweety family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310103	Ttyh1	tweety family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310103	Ttyh1	tweety family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310103	Ttyh1	tweety family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310103	Ttyh1	tweety family member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310103	Ttyh1	tweety family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310103	Ttyh1	tweety family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320816	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310103	Ttyh1	tweety family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310103	Ttyh1	tweety family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310105	Trim27	tripartite motif-containing 27	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310105	Trim27	tripartite motif-containing 27	gene	DOID:1909	melanoma		ISO	RGD:1320820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310105	Trim27	tripartite motif-containing 27	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310105	Trim27	tripartite motif-containing 27	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310105	Trim27	tripartite motif-containing 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1320820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310105	Trim27	tripartite motif-containing 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310105	Trim27	tripartite motif-containing 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310108	Fbxo34	F-box protein 34	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310108	Fbxo34	F-box protein 34	gene	DOID:1115	sarcoma		ISO	RGD:1320823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310108	Fbxo34	F-box protein 34	gene	DOID:4362	cervical cancer		ISO	RGD:1320823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310109	Napg	NSF attachment protein gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310109	Napg	NSF attachment protein gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310109	Napg	NSF attachment protein gamma	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310109	Napg	NSF attachment protein gamma	gene	DOID:3070	high grade glioma		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310109	Napg	NSF attachment protein gamma	gene	DOID:4362	cervical cancer		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310109	Napg	NSF attachment protein gamma	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310109	Napg	NSF attachment protein gamma	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310109	Napg	NSF attachment protein gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1320824	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310109	Napg	NSF attachment protein gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310109	Napg	NSF attachment protein gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310109	Napg	NSF attachment protein gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310109	Napg	NSF attachment protein gamma	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310110	Armh4	armadillo-like helical domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310110	Armh4	armadillo-like helical domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1351933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310110	Armh4	armadillo-like helical domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1351933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310110	Armh4	armadillo-like helical domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1351933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310110	Armh4	armadillo-like helical domain containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310110	Armh4	armadillo-like helical domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310110	Armh4	armadillo-like helical domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310110	Armh4	armadillo-like helical domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351933	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310110	Armh4	armadillo-like helical domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310111	Aspdh	aspartate dehydrogenase domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:10211	cholelithiasis		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholelithiasis	PMID:25741868
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:10534	stomach cancer		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:10907	microcephaly		ISO	RGD:1349345	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:1115	sarcoma		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:11383	cryptorchidism		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:1324	lung cancer		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1349345	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Aase syndrome	PMID:28492532
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:1826	epilepsy		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:1909	melanoma		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:3275	thymoma		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:4362	cervical cancer		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349345	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:543	dystonia		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: dystonia	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349345	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349345	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:9009169	LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA		ISO	RGD:1349345	D	RGD:7240710	20190315	OMIM			
1310112	Plekhg2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:9009169	LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia | ClinVar Annotator: match by term: PLEKHG2-related condition	PMID:25741868|PMID:26573021|PMID:28492532|PMID:35203342
1310113	Tnk1	tyrosine kinase, non-receptor, 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310113	Tnk1	tyrosine kinase, non-receptor, 1	gene	DOID:0081216	autosomal recessive intellectual developmental disorder 54		ISO	RGD:1320828	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: TNK1-related condition	PMID:28492532
1310113	Tnk1	tyrosine kinase, non-receptor, 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310113	Tnk1	tyrosine kinase, non-receptor, 1	gene	DOID:1115	sarcoma		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310113	Tnk1	tyrosine kinase, non-receptor, 1	gene	DOID:1324	lung cancer		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310113	Tnk1	tyrosine kinase, non-receptor, 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310113	Tnk1	tyrosine kinase, non-receptor, 1	gene	DOID:3275	thymoma		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310113	Tnk1	tyrosine kinase, non-receptor, 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310113	Tnk1	tyrosine kinase, non-receptor, 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320828	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310113	Tnk1	tyrosine kinase, non-receptor, 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310113	Tnk1	tyrosine kinase, non-receptor, 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310113	Tnk1	tyrosine kinase, non-receptor, 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310113	Tnk1	tyrosine kinase, non-receptor, 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310113	Tnk1	tyrosine kinase, non-receptor, 1	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1320828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:0050625	biliary tract benign neoplasm		ISO	RGD:1320830	D	RGD:2317953|PMID:16373701	20100503	RGD			
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma		ISO	RGD:1320830	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma		ISO	RGD:1320830	D	RGD:7240710	20130731	OMIM			
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MTAP-related condition	PMID:25741868
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:10534	stomach cancer		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:1115	sarcoma		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:1324	lung cancer		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1320830	D	RGD:2317952|PMID:15534104	20100503	RGD		DNA, protein:deletion, decreased activity:pancreas:	
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:1909	melanoma		ISO	RGD:1320830	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578364
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:4362	cervical cancer		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:4608	common bile duct neoplasm		ISO	RGD:1320830	D	RGD:2317954|PMID:15662124	20100503	RGD		DNA, protein:deletion, decreased expression:common bile duct:	
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:5041	esophageal cancer		ISO	RGD:1320830	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320830	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21716162
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:9002969	Nevus		ISO	RGD:1320830	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578365
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310114	Mtap	methylthioadenosine phosphorylase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310115	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310115	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:0060058	lymphoma		ISO	RGD:1320832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310115	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:10534	stomach cancer		ISO	RGD:1320832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310115	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:10608	celiac disease		ISO	RGD:1320832	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20190752
1310115	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1320832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1310115	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:2349	arteriosclerosis		ISO	RGD:1320832	D	RGD:2317295|PMID:11742877	20100325	RGD		protein:increased expression:carotid artery, atherosclerotic lesions (human)	
1310115	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:4362	cervical cancer		ISO	RGD:1320832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310115	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:5844	myocardial infarction		IEP		D	RGD:2317281|PMID:18353719	20100325	RGD		protein:increased expression:heart, cardiomyocyte, endothelial cell (rat)	
1310115	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320832	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310115	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1320832	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842
1310115	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:9000998	Brain Injuries		ISO	RGD:1320832	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
1310115	Tnfrsf14	TNF receptor superfamily member 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310116	Cmpk1	cytidine/uridine monophosphate kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310116	Cmpk1	cytidine/uridine monophosphate kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310116	Cmpk1	cytidine/uridine monophosphate kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310116	Cmpk1	cytidine/uridine monophosphate kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310116	Cmpk1	cytidine/uridine monophosphate kinase 1	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1604360	D	RGD:5133252|PMID:21642870	20110609	RGD		DNA:snps:intron:IVS1+1057C>A rs4492666, IVS1-928C>A rs11211524 (human)	
1310116	Cmpk1	cytidine/uridine monophosphate kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310116	Cmpk1	cytidine/uridine monophosphate kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310116	Cmpk1	cytidine/uridine monophosphate kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310116	Cmpk1	cytidine/uridine monophosphate kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310117	Igsf21	immunoglobin superfamily, member 21	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310117	Igsf21	immunoglobin superfamily, member 21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602849	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
1310117	Igsf21	immunoglobin superfamily, member 21	gene	DOID:1909	melanoma		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310117	Igsf21	immunoglobin superfamily, member 21	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310117	Igsf21	immunoglobin superfamily, member 21	gene	DOID:3275	thymoma		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310117	Igsf21	immunoglobin superfamily, member 21	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310117	Igsf21	immunoglobin superfamily, member 21	gene	DOID:4362	cervical cancer		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310117	Igsf21	immunoglobin superfamily, member 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310117	Igsf21	immunoglobin superfamily, member 21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310117	Igsf21	immunoglobin superfamily, member 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310118	Ankrd12	ankyrin repeat domain 12	gene	DOID:10283	prostate cancer		ISO	RGD:1320836	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1310118	Ankrd12	ankyrin repeat domain 12	gene	DOID:1909	melanoma		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310118	Ankrd12	ankyrin repeat domain 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310118	Ankrd12	ankyrin repeat domain 12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310118	Ankrd12	ankyrin repeat domain 12	gene	DOID:4362	cervical cancer		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310118	Ankrd12	ankyrin repeat domain 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1320836	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310118	Ankrd12	ankyrin repeat domain 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310118	Ankrd12	ankyrin repeat domain 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310118	Ankrd12	ankyrin repeat domain 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310118	Ankrd12	ankyrin repeat domain 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310118	Ankrd12	ankyrin repeat domain 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310118	Ankrd12	ankyrin repeat domain 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310120	Dpm1	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310120	Dpm1	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	gene	DOID:0080557	congenital disorder of glycosylation Ie		ISO	RGD:1320840	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310120	Dpm1	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	gene	DOID:0080557	congenital disorder of glycosylation Ie		ISO	RGD:1320840	D	RGD:7240710	20130221	OMIM			
1310120	Dpm1	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	gene	DOID:0080557	congenital disorder of glycosylation Ie		ISO	RGD:1320840	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDG Ie | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ie | ClinVar Annotator: match by term: DPM1-related condition	PMID:10642597|PMID:10642602|PMID:17576681|PMID:25640679|PMID:25741868|PMID:27481510|PMID:28139241|PMID:28492532|PMID:34015165|PMID:9536098
1310120	Dpm1	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	gene	DOID:4362	cervical cancer		ISO	RGD:1320840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310120	Dpm1	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310120	Dpm1	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	gene	DOID:630	genetic disease		ISO	RGD:1320840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310121	Tppp	tubulin polymerization promoting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310121	Tppp	tubulin polymerization promoting protein	gene	DOID:0080600	COVID-19		ISO	RGD:1605400	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310121	Tppp	tubulin polymerization promoting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310122	Pspc1	paraspeckle component 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320843	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310122	Pspc1	paraspeckle component 1	gene	DOID:0060058	lymphoma		ISO	RGD:1320843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310122	Pspc1	paraspeckle component 1	gene	DOID:1909	melanoma		ISO	RGD:1320843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310122	Pspc1	paraspeckle component 1	gene	DOID:3275	thymoma		ISO	RGD:1320843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310122	Pspc1	paraspeckle component 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310122	Pspc1	paraspeckle component 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310122	Pspc1	paraspeckle component 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310122	Pspc1	paraspeckle component 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310122	Pspc1	paraspeckle component 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310122	Pspc1	paraspeckle component 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310122	Pspc1	paraspeckle component 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310122	Pspc1	paraspeckle component 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1320843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310126	Tdrd3	tudor domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310126	Tdrd3	tudor domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310126	Tdrd3	tudor domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310126	Tdrd3	tudor domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310126	Tdrd3	tudor domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310126	Tdrd3	tudor domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310126	Tdrd3	tudor domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320851	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310126	Tdrd3	tudor domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310126	Tdrd3	tudor domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310126	Tdrd3	tudor domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310127	Rusf1	RUS family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310127	Rusf1	RUS family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310127	Rusf1	RUS family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310127	Rusf1	RUS family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310127	Rusf1	RUS family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310127	Rusf1	RUS family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310127	Rusf1	RUS family member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310127	Rusf1	RUS family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310127	Rusf1	RUS family member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310127	Rusf1	RUS family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310127	Rusf1	RUS family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310127	Rusf1	RUS family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310127	Rusf1	RUS family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310127	Rusf1	RUS family member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310128	Med10	mediator complex subunit 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310128	Med10	mediator complex subunit 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310128	Med10	mediator complex subunit 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310128	Med10	mediator complex subunit 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310128	Med10	mediator complex subunit 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310128	Med10	mediator complex subunit 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310131	Fbln7	fibulin 7	gene	DOID:1909	melanoma		ISO	RGD:1601826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310131	Fbln7	fibulin 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310131	Fbln7	fibulin 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310131	Fbln7	fibulin 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0050817	Stargardt disease		ISO	RGD:1606119	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: STGD	PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0070280	primary autosomal recessive microcephaly 5		ISO	RGD:1606119	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive	PMID:25741868
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110722	neuronal ceroid lipofuscinosis 7		ISO	RGD:1606119	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110722	neuronal ceroid lipofuscinosis 7		ISO	RGD:1606119	D	RGD:7240710	20130731	OMIM			
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110722	neuronal ceroid lipofuscinosis 7		ISO	RGD:1606119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 7 | ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 7 | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 7 | ClinVar Annotator: match by term: MFSD8-related condition | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7	PMID:16199547|PMID:17564970|PMID:17576681|PMID:18850119|PMID:19177532|PMID:19201763|PMID:19277732|PMID:20826447|PMID:21990111|PMID:22668694|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:27146152|PMID:27848944|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28708303|PMID:28794409|PMID:29655203|PMID:29924869|PMID:30382371|PMID:30548430|PMID:31006324|PMID:31105743|PMID:31440721|PMID:31489614|PMID:31597037|PMID:31721179|PMID:32005694|PMID:32037395|PMID:32399599|PMID:35457110|PMID:35917699|PMID:36374771|PMID:36435927|PMID:36972931|PMID:37090936|PMID:37250406|PMID:38468460|PMID:39108195|PMID:9177532|PMID:9536098
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110722	neuronal ceroid lipofuscinosis 7		ISS	RGD:1331917	D	RGD:13592920	20230718	MouseDO		OMIM:610951	
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:33546218
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:33546218
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:25741915|PMID:25741916|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218|PMID:34828358
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:28758139|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218|PMID:34828358|PMID:35457110|PMID:36972931
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28586915|PMID:28600779|PMID:28758139|PMID:30215852|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218|PMID:34426522|PMID:34828358|PMID:35457110|PMID:36972931
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis	PMID:16199547|PMID:17564970|PMID:17576681|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22612257|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:27848944|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28600779|PMID:28708303|PMID:29389947|PMID:29655203|PMID:30382371|PMID:31006324|PMID:31069529|PMID:31216804|PMID:31489614|PMID:31589614|PMID:31618753|PMID:31741823|PMID:32005694|PMID:32037395|PMID:32399599|PMID:32581362|PMID:33084218|PMID:33546218|PMID:34469436|PMID:34828358|PMID:34849271|PMID:34888859|PMID:34910516|PMID:35087090|PMID:35457110|PMID:36801247|PMID:36912596|PMID:37250406|PMID:38659533|PMID:39062705|PMID:39563673|PMID:39675099|PMID:40327886|PMID:9536098
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:17564970|PMID:25741868|PMID:39108195
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1606119	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:1059	intellectual disability		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:30382371
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:10907	microcephaly		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:30382371
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:11832	visual epilepsy		ISO	RGD:1606119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18414213|PMID:19277732|PMID:21990111|PMID:22668694|PMID:25227500|PMID:25333361|PMID:25741868|PMID:26467025|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:29924869|PMID:31006324|PMID:32581362|PMID:33546218
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:12849	autistic disorder		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532|PMID:30382371
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1606119	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:19201763|PMID:19277732|PMID:22668694|PMID:25333361|PMID:25741868|PMID:26075876|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28708303|PMID:31006324|PMID:31741823|PMID:32037395|PMID:32581362|PMID:34910516|PMID:35087090
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1606119	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:18850119|PMID:19201763|PMID:19277732|PMID:20826447|PMID:21990111|PMID:22668694|PMID:25227500|PMID:25333361|PMID:25741868|PMID:26075876|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28708303|PMID:29655203|PMID:31006324|PMID:31741823|PMID:32037395|PMID:32581362|PMID:33546218|PMID:34828358|PMID:34910516|PMID:35087090|PMID:37074398
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:17564970|PMID:18850119|PMID:20826447|PMID:25741868|PMID:28492532|PMID:29655203|PMID:37074398|PMID:39108195
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:1826	epilepsy		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:30382371
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1606119	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:630	genetic disease		ISO	RGD:1606119	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17564970|PMID:25741868|PMID:28492532|PMID:30382371|PMID:39108195
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:8501	fundus dystrophy		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:19177532|PMID:25227500|PMID:25741868|PMID:28492532|PMID:28586915|PMID:30543658|PMID:36909829
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:17564970|PMID:25741868|PMID:39108195
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:9004170	Macular Dystrophy with Central Cone Involvement		ISO	RGD:1606119	D	RGD:7240710	20150923	OMIM			
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:9004170	Macular Dystrophy with Central Cone Involvement		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macular dystrophy with central cone involvement	PMID:16199547|PMID:19177532|PMID:25227500|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28586915|PMID:30382371|PMID:33546218|PMID:35457110
1310132	Mfsd8	major facilitator superfamily domain containing 8	gene	DOID:9004866	Ataxia		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Limb ataxia	PMID:17564970|PMID:25741868|PMID:39108195
1310133	Rinl	Ras and Rab interactor-like	gene	DOID:10534	stomach cancer		ISO	RGD:1602985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310133	Rinl	Ras and Rab interactor-like	gene	DOID:1115	sarcoma		ISO	RGD:1602985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310133	Rinl	Ras and Rab interactor-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310133	Rinl	Ras and Rab interactor-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310134	Gtf2e2	general transcription factor IIE subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310134	Gtf2e2	general transcription factor IIE subunit 2	gene	DOID:0111872	nonphotosensitive trichothiodystrophy 6		ISO	RGD:1320859	D	RGD:7240710	20190315	OMIM			
1310134	Gtf2e2	general transcription factor IIE subunit 2	gene	DOID:0111872	nonphotosensitive trichothiodystrophy 6		ISO	RGD:1320859	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GTF2E2-related condition | ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE | ClinVar Annotator: match by term: trichothiodystrophy 6, nonphotosensitive	PMID:25741868|PMID:28492532
1310134	Gtf2e2	general transcription factor IIE subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310134	Gtf2e2	general transcription factor IIE subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310134	Gtf2e2	general transcription factor IIE subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1320859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310134	Gtf2e2	general transcription factor IIE subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310134	Gtf2e2	general transcription factor IIE subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1320859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310134	Gtf2e2	general transcription factor IIE subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1310134	Gtf2e2	general transcription factor IIE subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1320861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:11907649|PMID:12920079|PMID:16283880|PMID:21786053|PMID:22975204|PMID:24033266|PMID:24526180|PMID:25262649|PMID:25741868|PMID:26467025|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:29431110|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31152317|PMID:31412945|PMID:31589614|PMID:31980526|PMID:34599368|PMID:37713394|PMID:37811145|PMID:38691166
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1320861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:11137999|PMID:16021470|PMID:17551081|PMID:22975204|PMID:24033266|PMID:25741868|PMID:26445815|PMID:28492532|PMID:29889784|PMID:30311386|PMID:30622556|PMID:34440452|PMID:34868270
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:0110527	autosomal recessive nonsyndromic deafness 8		ISO	RGD:1320861	D	RGD:7240710	20151217	OMIM			
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:0110527	autosomal recessive nonsyndromic deafness 8		ISO	RGD:1320861	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8 | ClinVar Annotator: match by term: TMPRSS3-related condition	PMID:11137999|PMID:11424922|PMID:11462234|PMID:11907649|PMID:12393794|PMID:12920079|PMID:15447792|PMID:16021470|PMID:16199547|PMID:16283880|PMID:16460646|PMID:16524950|PMID:17551081|PMID:17576681|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22382023|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24130743|PMID:24416283|PMID:24526180|PMID:24657061|PMID:24853665|PMID:25262649|PMID:25474651|PMID:25741868|PMID:25770132|PMID:26036852|PMID:26346818|PMID:26408194|PMID:26445815|PMID:26467025|PMID:26506222|PMID:26969326|PMID:27344577|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:28984810|PMID:29072634|PMID:29196752|PMID:29293505|PMID:29431110|PMID:29889784|PMID:30242206|PMID:30303587|PMID:30311386|PMID:30622556|PMID:30919572|PMID:31016883|PMID:31045651|PMID:31053783|PMID:31152317|PMID:31379920|PMID:31389194|PMID:31412945|PMID:31581539|PMID:31589614|PMID:31835641|PMID:31850270|PMID:31980526|PMID:32235586|PMID:32306631|PMID:3285355|PMID:32853555|PMID:32860223|PMID:33179747|PMID:33297549|PMID:33597575|PMID:34416374|PMID:34440452|PMID:34593925|PMID:3459936|PMID:34599368|PMID:34837038|PMID:34868270|PMID:35802133|PMID:35864128|PMID:36633841|PMID:36871673|PMID:37086329|PMID:37331337|PMID:37713394|PMID:37811145|PMID:38691166|PMID:9536098
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:0110527	autosomal recessive nonsyndromic deafness 8		ISO	RGD:1320861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 8 | ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: TMPRSS3-related condition	PMID:11137999|PMID:11424922|PMID:11462234|PMID:11907649|PMID:12393794|PMID:12920079|PMID:16021470|PMID:16283880|PMID:16524950|PMID:17551081|PMID:17981648|PMID:18928407|PMID:21534946|PMID:21786053|PMID:22382023|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24416283|PMID:24526180|PMID:24853665|PMID:25262649|PMID:25741868|PMID:25770132|PMID:26036852|PMID:26346818|PMID:26408194|PMID:26445815|PMID:26467025|PMID:26969326|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29072634|PMID:29196752|PMID:29431110|PMID:29937438|PMID:30242206|PMID:30311386|PMID:30622556|PMID:30919572|PMID:31045651|PMID:31053783|PMID:31152317|PMID:31412945|PMID:31581539|PMID:31589614|PMID:31850270|PMID:31980526|PMID:32235586|PMID:32860223|PMID:33297549|PMID:34416374|PMID:34426522|PMID:34440452|PMID:34519870|PMID:3459936|PMID:34599368|PMID:34837038|PMID:34868270|PMID:35864128|PMID:35961784|PMID:36147510|PMID:36871673|PMID:37331337|PMID:37713394|PMID:37811145|PMID:38691166
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320861	D	RGD:1599443|PMID:11137999	20070205	RGD		DFNB10, OMIM:605316, DFNB8 OMIM:601072	
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:11424922|PMID:11907649|PMID:12920079|PMID:15447792|PMID:16021470|PMID:16283880|PMID:16460646|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22975204|PMID:24033266|PMID:25262649|PMID:25741868|PMID:26036852|PMID:26408194|PMID:26969326|PMID:28492532|PMID:28566687|PMID:29293505|PMID:29431110|PMID:30242206|PMID:30311386|PMID:31152317|PMID:31589614|PMID:31980526|PMID:32853555|PMID:34599368|PMID:34868270|PMID:37331337|PMID:37713394|PMID:37811145
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:11424922|PMID:12920079|PMID:16283880|PMID:21786053|PMID:22975204|PMID:23967202|PMID:24033266|PMID:25262649|PMID:25741868|PMID:26969326|PMID:28246597|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29431110|PMID:30242206|PMID:30311386|PMID:31152317|PMID:31589614|PMID:31980526|PMID:34599368|PMID:36147510|PMID:37713394|PMID:37811145
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:10316	pneumoconiosis		ISO	RGD:1320861	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:10534	stomach cancer		ISO	RGD:1320861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:11424922|PMID:12920079|PMID:24853665|PMID:25741868|PMID:28492532|PMID:28566687
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:10907	microcephaly		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:11907649|PMID:12920079|PMID:21786053|PMID:24033266|PMID:24526180|PMID:25741868|PMID:26467025|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31412945|PMID:34599368|PMID:38691166
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:12849	autistic disorder		ISO	RGD:1320861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism	PMID:11907649|PMID:12920079|PMID:21786053|PMID:24033266|PMID:24526180|PMID:25741868|PMID:26467025|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31412945|PMID:34599368|PMID:38691166
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:1826	epilepsy		ISO	RGD:1320861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11907649|PMID:12920079|PMID:21786053|PMID:24033266|PMID:24526180|PMID:25741868|PMID:26467025|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31412945|PMID:34599368|PMID:38691166
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1320861	D	RGD:2325152|PMID:14695172	20100520	RGD			
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320861	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:630	genetic disease		ISO	RGD:1320861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532|PMID:34519870|PMID:38691166|PMID:39373914
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:9001733	Tinnitus		ISO	RGD:1320861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:16283880|PMID:21786053|PMID:22975204|PMID:23967202|PMID:24033266|PMID:25262649|PMID:25741868|PMID:26969326|PMID:28246597|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29431110|PMID:30242206|PMID:30311386|PMID:31152317|PMID:31589614|PMID:31980526|PMID:34599368|PMID:36147510|PMID:37713394|PMID:37811145
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:9003126	Hallucinations		ISO	RGD:1320861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Auditory hallucination	PMID:16283880|PMID:21786053|PMID:22975204|PMID:23967202|PMID:24033266|PMID:25262649|PMID:25741868|PMID:26969326|PMID:28246597|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29431110|PMID:30242206|PMID:30311386|PMID:31152317|PMID:31589614|PMID:31980526|PMID:34599368|PMID:36147510|PMID:37713394|PMID:37811145
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1320861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:11137999|PMID:11424922|PMID:11907649|PMID:12393794|PMID:12920079|PMID:16021470|PMID:16283880|PMID:16524950|PMID:17551081|PMID:17981648|PMID:18928407|PMID:21786053|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24526180|PMID:24853665|PMID:25262649|PMID:25741868|PMID:25770132|PMID:26036852|PMID:26408194|PMID:26445815|PMID:26467025|PMID:26969326|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29072634|PMID:29196752|PMID:29431110|PMID:29889784|PMID:29937438|PMID:30242206|PMID:30311386|PMID:30622556|PMID:31045651|PMID:31053783|PMID:31152317|PMID:31412945|PMID:31589614|PMID:31980526|PMID:32860223|PMID:34426522|PMID:34440452|PMID:34519870|PMID:34593925|PMID:34599368|PMID:34868270|PMID:35961784|PMID:36147510|PMID:36871673|PMID:37331337|PMID:37713394|PMID:37811145|PMID:38691166
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11907649|PMID:12920079|PMID:21786053|PMID:24033266|PMID:24526180|PMID:25741868|PMID:26467025|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31412945|PMID:34599368|PMID:38691166
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:9008681	Deafness		ISO	RGD:1320861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:12920079|PMID:24033266|PMID:25741868|PMID:28492532
1310135	Tmprss3	transmembrane serine protease 3	gene	DOID:9834	hyperopia		ISO	RGD:1320861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17551081|PMID:21786053|PMID:23208854|PMID:23958653|PMID:24033266|PMID:24526180|PMID:25741868|PMID:28246597|PMID:28492532|PMID:28566687|PMID:28695016|PMID:30311386|PMID:31045651|PMID:31412945|PMID:32860223|PMID:34599368|PMID:37331337
1310136	Zbtb38	zinc finger and BTB domain containing 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310136	Zbtb38	zinc finger and BTB domain containing 38	gene	DOID:10534	stomach cancer		ISO	RGD:1603531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310136	Zbtb38	zinc finger and BTB domain containing 38	gene	DOID:1115	sarcoma		ISO	RGD:1603531	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310137	Nsun7	NOP2/Sun RNA methyltransferase family member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310137	Nsun7	NOP2/Sun RNA methyltransferase family member 7	gene	DOID:1115	sarcoma		ISO	RGD:1602865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310137	Nsun7	NOP2/Sun RNA methyltransferase family member 7	gene	DOID:12336	male infertility		ISO	RGD:1602865	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17442852
1310137	Nsun7	NOP2/Sun RNA methyltransferase family member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310137	Nsun7	NOP2/Sun RNA methyltransferase family member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310137	Nsun7	NOP2/Sun RNA methyltransferase family member 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:1115	sarcoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:1324	lung cancer		ISO	RGD:1320865	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:1612	breast cancer	severity	ISO	RGD:1320865	D	RGD:11530014|PMID:21453498	20160818	RGD		in conjunction with E2f1 expression;mRNA:increased expression:breast (human	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:3275	thymoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:916	liver benign neoplasm		ISO	RGD:1320865	D	RGD:11530012|PMID:24056962	20160818	RGD		human cells in a mouse model	
1310138	Tut4	terminal uridylyl transferase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:0050457	Sertoli cell-only syndrome		ISS	RGD:1552653	D	RGD:13592920	20240926	MouseDO			
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:0050562	West syndrome		ISO	RGD:1601915	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: Infantile spasms	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:10907	microcephaly		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:1324	lung cancer		ISO	RGD:1601915	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:1826	epilepsy		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:1909	melanoma		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:3275	thymoma		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1601915	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310139	Mast4	microtubule associated serine/threonine kinase family member 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1601915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310141	Tbxt	T-box transcription factor T	gene	DOID:0060058	lymphoma		ISO	RGD:1320869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310141	Tbxt	T-box transcription factor T	gene	DOID:0080074	neural tube defect		ISO	RGD:1320869	D	RGD:11554173	20250204	CTD		CTD Direct Evidence: marker/mechanism	
1310141	Tbxt	T-box transcription factor T	gene	DOID:0080074	neural tube defect		ISO	RGD:1320869	D	RGD:7240710	20260805	OMIM			
1310141	Tbxt	T-box transcription factor T	gene	DOID:0080074	neural tube defect		ISO	RGD:1320869	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: TBXT-related condition	PMID:15449172|PMID:25741868
1310141	Tbxt	T-box transcription factor T	gene	DOID:0081205	autosomal recessive intellectual developmental disorder 40		ISO	RGD:1320869	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 40	PMID:25741868
1310141	Tbxt	T-box transcription factor T	gene	DOID:3302	chordoma		ISO	RGD:1320869	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19801981|PMID:23064415
1310141	Tbxt	T-box transcription factor T	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310141	Tbxt	T-box transcription factor T	gene	DOID:9004975	Sacral Agenesis with Vertebral Anomalies		ISO	RGD:1320869	D	RGD:7240710	20260805	OMIM			
1310141	Tbxt	T-box transcription factor T	gene	DOID:9004975	Sacral Agenesis with Vertebral Anomalies		ISO	RGD:1320869	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES	
1310142	Rfc4	replication factor C subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310142	Rfc4	replication factor C subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310142	Rfc4	replication factor C subunit 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310142	Rfc4	replication factor C subunit 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1320871	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1310142	Rfc4	replication factor C subunit 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310142	Rfc4	replication factor C subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1320871	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310142	Rfc4	replication factor C subunit 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310142	Rfc4	replication factor C subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310142	Rfc4	replication factor C subunit 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1310142	Rfc4	replication factor C subunit 4	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1320871	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1310142	Rfc4	replication factor C subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310142	Rfc4	replication factor C subunit 4	gene	DOID:9009267	MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME		ISO	RGD:1320871	D	RGD:7240710	20250101	OMIM			
1310142	Rfc4	replication factor C subunit 4	gene	DOID:9009267	MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME		ISO	RGD:1320871	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME | ClinVar Annotator: match by term: Morimoto-Ryu-Malicdan neuromuscular syndrome	PMID:25741868|PMID:39106866
1310142	Rfc4	replication factor C subunit 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:0060858	hypotonia-cystinuria syndrome		ISO	RGD:1606027	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26247364
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:0080587	congenital myasthenic syndrome 22		ISO	RGD:1606027	D	RGD:7240710	20190315	OMIM			
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:0080587	congenital myasthenic syndrome 22		ISO	RGD:1606027	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 22 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 | ClinVar Annotator: match by term: PREPL DEFICIENCY	PMID:16199547|PMID:17576681|PMID:24610330|PMID:25741868|PMID:28492532|PMID:28726805|PMID:29483676|PMID:29913539|PMID:32707643|PMID:33233562|PMID:9536098
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:10534	stomach cancer		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:1115	sarcoma		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:1324	lung cancer		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:3275	thymoma		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1606027	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:4362	cervical cancer		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1606027	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:24610330|PMID:25741868|PMID:28492532|PMID:28726805|PMID:29913539
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:630	genetic disease		ISO	RGD:1606027	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606027	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310143	Prepl	prolyl endopeptidase-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604833	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:0051087	developmental and epileptic encephalopathy 115		ISO	RGD:1604833	D	RGD:7240710	20240515	OMIM			
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:0051087	developmental and epileptic encephalopathy 115		ISO	RGD:1604833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 115	
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1604833	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:1826	epilepsy		ISO	RGD:1604833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:5041	esophageal cancer		ISO	RGD:1604833	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1604833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1604833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:9009104	NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY		ISO	RGD:1604833	D	RGD:7240710	20240529	OMIM			
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:9009104	NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY		ISO	RGD:1604833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY	
1310144	Snf8	SNF8 subunit of ESCRT-II	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310145	Tbx19	T-box transcription factor 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310145	Tbx19	T-box transcription factor 19	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1320875	D	RGD:401851917|PMID:18438686	20231031	RGD		DNA:SNP:: (rs1003502) (human)	
1310145	Tbx19	T-box transcription factor 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310145	Tbx19	T-box transcription factor 19	gene	DOID:0080150	adrenocorticotropic hormone deficiency		ISO	RGD:1320875	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16390921
1310145	Tbx19	T-box transcription factor 19	gene	DOID:0080150	adrenocorticotropic hormone deficiency		ISO	RGD:1320875	D	RGD:7240710	20130425	OMIM			
1310145	Tbx19	T-box transcription factor 19	gene	DOID:0080150	adrenocorticotropic hormone deficiency		ISO	RGD:1320875	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACTH DEFICIENCY, ISOLATED | ClinVar Annotator: match by term: ACTH deficiency | ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency | ClinVar Annotator: match by term: TBX19-related condition	PMID:12651888|PMID:15476446|PMID:15613420|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1310145	Tbx19	T-box transcription factor 19	gene	DOID:0080150	adrenocorticotropic hormone deficiency		ISS	RGD:1320876	D	RGD:13592920	20230718	MouseDO		OMIM:201400	
1310145	Tbx19	T-box transcription factor 19	gene	DOID:1115	sarcoma		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310145	Tbx19	T-box transcription factor 19	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:13620	patent foramen ovale		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:1459	hypothyroidism		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:1574	alcohol use disorder		ISO	RGD:1320875	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1310145	Tbx19	T-box transcription factor 19	gene	DOID:1826	epilepsy		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:4362	cervical cancer		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310145	Tbx19	T-box transcription factor 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1320875	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310145	Tbx19	T-box transcription factor 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310145	Tbx19	T-box transcription factor 19	gene	DOID:6000	congestive heart failure		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:630	genetic disease		ISO	RGD:1320875	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310145	Tbx19	T-box transcription factor 19	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1320875	D	RGD:1599334|PMID:11290323	20070130	RGD		ACTH deficiency, OMIM:201400	
1310145	Tbx19	T-box transcription factor 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310145	Tbx19	T-box transcription factor 19	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:9000957	lymphatic malformation 6		ISO	RGD:1320875	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Lymphedema, hereditary, III	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:9002532	Neonatal Hyperbilirubinemia		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hyperbilirubinemia	
1310145	Tbx19	T-box transcription factor 19	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310145	Tbx19	T-box transcription factor 19	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:9007573	Flatfoot		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:9007661	Dwarfism		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	PMID:25741868
1310145	Tbx19	T-box transcription factor 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310145	Tbx19	T-box transcription factor 19	gene	DOID:9993	hypoglycemia		ISO	RGD:1320875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
1310146	Kif16b	kinesin family member 16B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310146	Kif16b	kinesin family member 16B	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1320877	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome 1	
1310146	Kif16b	kinesin family member 16B	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
1310146	Kif16b	kinesin family member 16B	gene	DOID:10283	prostate cancer		ISO	RGD:1320877	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310146	Kif16b	kinesin family member 16B	gene	DOID:10283	prostate cancer		ISO	RGD:1320877	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310146	Kif16b	kinesin family member 16B	gene	DOID:1059	intellectual disability		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1310146	Kif16b	kinesin family member 16B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310146	Kif16b	kinesin family member 16B	gene	DOID:1115	sarcoma		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310146	Kif16b	kinesin family member 16B	gene	DOID:12849	autistic disorder		ISO	RGD:1320877	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1310146	Kif16b	kinesin family member 16B	gene	DOID:1909	melanoma		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310146	Kif16b	kinesin family member 16B	gene	DOID:1969	cerebral palsy		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1310146	Kif16b	kinesin family member 16B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310146	Kif16b	kinesin family member 16B	gene	DOID:4362	cervical cancer		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310146	Kif16b	kinesin family member 16B	gene	DOID:5041	esophageal cancer		ISO	RGD:1320877	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310146	Kif16b	kinesin family member 16B	gene	DOID:540	strabismus		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1310146	Kif16b	kinesin family member 16B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310146	Kif16b	kinesin family member 16B	gene	DOID:767	muscular atrophy		ISO	RGD:1320877	D	RGD:8554872	20210810	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868
1310146	Kif16b	kinesin family member 16B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310146	Kif16b	kinesin family member 16B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310146	Kif16b	kinesin family member 16B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310146	Kif16b	kinesin family member 16B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310146	Kif16b	kinesin family member 16B	gene	DOID:9256	colorectal cancer		ISO	RGD:1320877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:10534	stomach cancer		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:1324	lung cancer		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:1909	melanoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:3275	thymoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:4362	cervical cancer		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604633	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310147	Tbc1d9b	TBC1 domain family member 9B	gene	DOID:9256	colorectal cancer		ISO	RGD:1604633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310149	Fam13c	family with sequence similarity 13, member C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310149	Fam13c	family with sequence similarity 13, member C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310149	Fam13c	family with sequence similarity 13, member C	gene	DOID:10283	prostate cancer		ISO	RGD:1320881	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310149	Fam13c	family with sequence similarity 13, member C	gene	DOID:10283	prostate cancer		ISO	RGD:1320881	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310149	Fam13c	family with sequence similarity 13, member C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310149	Fam13c	family with sequence similarity 13, member C	gene	DOID:1909	melanoma		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310149	Fam13c	family with sequence similarity 13, member C	gene	DOID:3275	thymoma		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310149	Fam13c	family with sequence similarity 13, member C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310149	Fam13c	family with sequence similarity 13, member C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310149	Fam13c	family with sequence similarity 13, member C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310149	Fam13c	family with sequence similarity 13, member C	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310149	Fam13c	family with sequence similarity 13, member C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310150	Snx25	sorting nexin 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310150	Snx25	sorting nexin 25	gene	DOID:10534	stomach cancer		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310150	Snx25	sorting nexin 25	gene	DOID:1059	intellectual disability		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1310150	Snx25	sorting nexin 25	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310150	Snx25	sorting nexin 25	gene	DOID:1115	sarcoma		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310150	Snx25	sorting nexin 25	gene	DOID:12849	autistic disorder		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1310150	Snx25	sorting nexin 25	gene	DOID:3275	thymoma		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310150	Snx25	sorting nexin 25	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310150	Snx25	sorting nexin 25	gene	DOID:4362	cervical cancer		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310150	Snx25	sorting nexin 25	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310150	Snx25	sorting nexin 25	gene	DOID:5041	esophageal cancer		ISO	RGD:1320883	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310150	Snx25	sorting nexin 25	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310150	Snx25	sorting nexin 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310150	Snx25	sorting nexin 25	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310150	Snx25	sorting nexin 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310150	Snx25	sorting nexin 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310150	Snx25	sorting nexin 25	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310151	Zfyve28	zinc finger FYVE-type containing 28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310151	Zfyve28	zinc finger FYVE-type containing 28	gene	DOID:0080600	COVID-19		ISO	RGD:1320885	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310151	Zfyve28	zinc finger FYVE-type containing 28	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310151	Zfyve28	zinc finger FYVE-type containing 28	gene	DOID:1115	sarcoma		ISO	RGD:1320885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310151	Zfyve28	zinc finger FYVE-type containing 28	gene	DOID:1909	melanoma		ISO	RGD:1320885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310151	Zfyve28	zinc finger FYVE-type containing 28	gene	DOID:3275	thymoma		ISO	RGD:1320885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310151	Zfyve28	zinc finger FYVE-type containing 28	gene	DOID:5041	esophageal cancer		ISO	RGD:1320885	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310151	Zfyve28	zinc finger FYVE-type containing 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310151	Zfyve28	zinc finger FYVE-type containing 28	gene	DOID:6039	uveal melanoma		ISO	RGD:1320885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310151	Zfyve28	zinc finger FYVE-type containing 28	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310151	Zfyve28	zinc finger FYVE-type containing 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310151	Zfyve28	zinc finger FYVE-type containing 28	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310152	Tfr2	transferrin receptor 2	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1310152	Tfr2	transferrin receptor 2	gene	DOID:0111029	hemochromatosis type 1		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemochromatosis type 1	PMID:23600741|PMID:25741868|PMID:26029709|PMID:28492532
1310152	Tfr2	transferrin receptor 2	gene	DOID:0111030	hemochromatosis type 3		IAGP		D	RGD:150520058|PMID:23582421	20211025	RGD		DNA:missense mutation:cds:Ala679Gly (rat)	
1310152	Tfr2	transferrin receptor 2	gene	DOID:0111030	hemochromatosis type 3		ISO	RGD:1320887	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310152	Tfr2	transferrin receptor 2	gene	DOID:0111030	hemochromatosis type 3		ISO	RGD:1320887	D	RGD:7240710	20130221	OMIM			
1310152	Tfr2	transferrin receptor 2	gene	DOID:0111030	hemochromatosis type 3		ISO	RGD:1320887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HEMOCHROMATOSIS, TYPE 3 | ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3 | ClinVar Annotator: match by term: TFR2-related condition	PMID:10802645|PMID:11313241|PMID:11358389|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:15749661|PMID:16199547|PMID:16424658|PMID:16838333|PMID:16923517|PMID:17576681|PMID:18094142|PMID:18245657|PMID:18450729|PMID:19144662|PMID:20179178|PMID:20301523|PMID:21199650|PMID:21524769|PMID:22981443|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:26151776|PMID:26183747|PMID:26408288|PMID:27667161|PMID:27896572|PMID:28276324|PMID:28492532|PMID:34946929|PMID:35462491|PMID:35464850|PMID:37990447|PMID:39687529|PMID:9536098
1310152	Tfr2	transferrin receptor 2	gene	DOID:0111030	hemochromatosis type 3		ISS	RGD:1320888	D	RGD:13592920	20230718	MouseDO		OMIM:604250	
1310152	Tfr2	transferrin receptor 2	gene	DOID:0111031	hemochromatosis type 5		ISO	RGD:1320887	D	RGD:8554872	20210119	ClinVar		ClinVar Annotator: match by term: Hereditary hemochromatosis type 5	PMID:28492532
1310152	Tfr2	transferrin receptor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310152	Tfr2	transferrin receptor 2	gene	DOID:1115	sarcoma		ISO	RGD:1320887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1310152	Tfr2	transferrin receptor 2	gene	DOID:12241	beta thalassemia		ISO	RGD:1320887	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16755567
1310152	Tfr2	transferrin receptor 2	gene	DOID:12241	beta thalassemia		ISO	RGD:1320888	D	RGD:11062138|PMID:16755567	20160427	RGD		mRNA:decreased expression:liver:	
1310152	Tfr2	transferrin receptor 2	gene	DOID:1324	lung cancer		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310152	Tfr2	transferrin receptor 2	gene	DOID:1909	melanoma		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310152	Tfr2	transferrin receptor 2	gene	DOID:2352	hemochromatosis		ISO	RGD:1320887	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16935854|PMID:17241880|PMID:21411349|PMID:22383097
1310152	Tfr2	transferrin receptor 2	gene	DOID:2352	hemochromatosis		ISO	RGD:1320887	D	RGD:1599386|PMID:10802645	20070201	RGD		hemochromatosis, type 3, HFE3, OMIM:604250	
1310152	Tfr2	transferrin receptor 2	gene	DOID:2352	hemochromatosis		ISO	RGD:1320887	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis	PMID:11313241|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:16199547|PMID:16424658|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18762941|PMID:20301523|PMID:21770687|PMID:21901660|PMID:22890139|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:27667161|PMID:28276324|PMID:28492532|PMID:9536098
1310152	Tfr2	transferrin receptor 2	gene	DOID:2352	hemochromatosis		ISO	RGD:1320887	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Bronze diabetes | ClinVar Annotator: match by term: Hereditary hemochromatosis	PMID:10802645|PMID:11102989|PMID:11313241|PMID:11358389|PMID:12130528|PMID:12134060|PMID:12150153|PMID:14633868|PMID:15147384|PMID:16199547|PMID:16424658|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18450729|PMID:18762941|PMID:20301523|PMID:21770687|PMID:22890139|PMID:22981443|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25640679|PMID:25741868|PMID:26029709|PMID:26183747|PMID:26408288|PMID:27667161|PMID:27896572|PMID:28276324|PMID:28492532|PMID:29985876|PMID:35462491|PMID:9536098
1310152	Tfr2	transferrin receptor 2	gene	DOID:2352	hemochromatosis		ISO	RGD:1320887	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary hemochromatosis	PMID:10802645|PMID:12134060|PMID:16199547|PMID:16424658|PMID:17576681|PMID:22981443|PMID:23600741|PMID:24055163|PMID:25640679|PMID:25741868|PMID:26029709|PMID:26408288|PMID:27896572|PMID:28276324|PMID:28492532|PMID:29985876|PMID:35462491|PMID:9536098
1310152	Tfr2	transferrin receptor 2	gene	DOID:3275	thymoma		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310152	Tfr2	transferrin receptor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310152	Tfr2	transferrin receptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1310152	Tfr2	transferrin receptor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310152	Tfr2	transferrin receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310152	Tfr2	transferrin receptor 2	gene	DOID:630	genetic disease		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310152	Tfr2	transferrin receptor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1310152	Tfr2	transferrin receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310152	Tfr2	transferrin receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310152	Tfr2	transferrin receptor 2	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1320887	D	RGD:11062090|PMID:15015967	20160425	RGD			
1310154	Ndc80	NDC80 kinetochore complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310154	Ndc80	NDC80 kinetochore complex component	gene	DOID:10534	stomach cancer		ISO	RGD:1320890	D	RGD:28867241|PMID:19878654	20200608	RGD		mRNA:increased expression:stomach	
1310154	Ndc80	NDC80 kinetochore complex component	gene	DOID:1115	sarcoma		ISO	RGD:1320890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310154	Ndc80	NDC80 kinetochore complex component	gene	DOID:1909	melanoma		ISO	RGD:1320890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310154	Ndc80	NDC80 kinetochore complex component	gene	DOID:3275	thymoma		ISO	RGD:1320890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310154	Ndc80	NDC80 kinetochore complex component	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1320890	D	RGD:28867236|PMID:17079454	20200608	RGD			
1310154	Ndc80	NDC80 kinetochore complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1320890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310154	Ndc80	NDC80 kinetochore complex component	gene	DOID:5041	esophageal cancer		ISO	RGD:1320890	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310154	Ndc80	NDC80 kinetochore complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310154	Ndc80	NDC80 kinetochore complex component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320890	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310154	Ndc80	NDC80 kinetochore complex component	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1320890	D	RGD:9068941	20201203	RGD		associated with melanoma	PMID:31173190|REF_RGD_ID:40822820
1310154	Ndc80	NDC80 kinetochore complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310154	Ndc80	NDC80 kinetochore complex component	gene	DOID:9256	colorectal cancer		ISO	RGD:1320890	D	RGD:28867241|PMID:19878654	20200608	RGD		mRNA:increased expression:colorectum	
1310155	Jchain	joining chain of multimeric IgA and IgM	gene	DOID:0080600	COVID-19		ISO	RGD:1320892	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310155	Jchain	joining chain of multimeric IgA and IgM	gene	DOID:4362	cervical cancer		ISO	RGD:1320892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310155	Jchain	joining chain of multimeric IgA and IgM	gene	DOID:5041	esophageal cancer		ISO	RGD:1320892	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310157	Yipf4	Yip1 domain family, member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1604267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310157	Yipf4	Yip1 domain family, member 4	gene	DOID:1115	sarcoma		ISO	RGD:1604267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310157	Yipf4	Yip1 domain family, member 4	gene	DOID:1324	lung cancer		ISO	RGD:1604267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310157	Yipf4	Yip1 domain family, member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:0111952	immunodeficiency 57		ISO	RGD:1320896	D	RGD:7240710	20190410	OMIM			
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:0111952	immunodeficiency 57		ISO	RGD:1320896	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION | ClinVar Annotator: match by term: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | ClinVar Annotator: match by term: Immunodeficiency 57	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320897	D	RGD:7777166|PMID:22908283	20140106	RGD			
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:13250	diarrhea		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1320896	D	RGD:7777170|PMID:19778795	20140106	RGD			
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:1826	epilepsy	ameliorates	IMP		D	RGD:156420143|PMID:32308116	20230215	RGD			
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:630	genetic disease		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:31827280|PMID:31827281|PMID:35716229
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:820	myocarditis		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocarditis	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:9004604	Autoinflammation with Episodic Fever and Lymphadenopathy		ISO	RGD:1320896	D	RGD:7240710	20200708	OMIM			
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:9004604	Autoinflammation with Episodic Fever and Lymphadenopathy		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY | ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy | ClinVar Annotator: match by term: RIPK1-related condition	PMID:25741868|PMID:28492532|PMID:30591564|PMID:31827280|PMID:31827281|PMID:32181283|PMID:35716229|PMID:36466854|PMID:36939041
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310158	Ripk1	receptor interacting serine/threonine kinase 1	gene	DOID:9201	lichen planus		ISO	RGD:1320896	D	RGD:7777168|PMID:20368033	20140106	RGD			
1310159	Acad10	acyl-CoA dehydrogenase family, member 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310159	Acad10	acyl-CoA dehydrogenase family, member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310159	Acad10	acyl-CoA dehydrogenase family, member 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310159	Acad10	acyl-CoA dehydrogenase family, member 10	gene	DOID:1115	sarcoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310159	Acad10	acyl-CoA dehydrogenase family, member 10	gene	DOID:1324	lung cancer		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310159	Acad10	acyl-CoA dehydrogenase family, member 10	gene	DOID:1909	melanoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310159	Acad10	acyl-CoA dehydrogenase family, member 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310159	Acad10	acyl-CoA dehydrogenase family, member 10	gene	DOID:3275	thymoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310159	Acad10	acyl-CoA dehydrogenase family, member 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310159	Acad10	acyl-CoA dehydrogenase family, member 10	gene	DOID:4362	cervical cancer		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310159	Acad10	acyl-CoA dehydrogenase family, member 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310159	Acad10	acyl-CoA dehydrogenase family, member 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310159	Acad10	acyl-CoA dehydrogenase family, member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310159	Acad10	acyl-CoA dehydrogenase family, member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310160	Zic5	Zic family zinc finger 5	gene	DOID:0080074	neural tube defect		ISO	RGD:1320899	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15136147
1310160	Zic5	Zic family zinc finger 5	gene	DOID:4362	cervical cancer		ISO	RGD:1320899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310160	Zic5	Zic family zinc finger 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320899	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310160	Zic5	Zic family zinc finger 5	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320899	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15136147
1310161	Rbm34	RNA binding motif protein 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310161	Rbm34	RNA binding motif protein 34	gene	DOID:10534	stomach cancer		ISO	RGD:1602128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310161	Rbm34	RNA binding motif protein 34	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310161	Rbm34	RNA binding motif protein 34	gene	DOID:1115	sarcoma		ISO	RGD:1602128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310161	Rbm34	RNA binding motif protein 34	gene	DOID:1324	lung cancer		ISO	RGD:1602128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310161	Rbm34	RNA binding motif protein 34	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310161	Rbm34	RNA binding motif protein 34	gene	DOID:3070	high grade glioma		ISO	RGD:1602128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310161	Rbm34	RNA binding motif protein 34	gene	DOID:4362	cervical cancer		ISO	RGD:1602128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310161	Rbm34	RNA binding motif protein 34	gene	DOID:5041	esophageal cancer		ISO	RGD:1602128	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310161	Rbm34	RNA binding motif protein 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310161	Rbm34	RNA binding motif protein 34	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310161	Rbm34	RNA binding motif protein 34	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310161	Rbm34	RNA binding motif protein 34	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310161	Rbm34	RNA binding motif protein 34	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310162	Lipi	lipase I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310162	Lipi	lipase I	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310162	Lipi	lipase I	gene	DOID:5041	esophageal cancer		ISO	RGD:1605865	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310162	Lipi	lipase I	gene	DOID:9006599	Hypertriglyceridemia	susceptibility	ISO	RGD:1605865	D	RGD:1625450|PMID:12719377	20070608	RGD		DNA:polymorphism: :p.C55Y	
1310162	Lipi	lipase I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310162	Lipi	lipase I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310162	Lipi	lipase I	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:0061045	autosomal dominant intellectual developmental disorder 72		ISO	RGD:1320904	D	RGD:7240710	20230712	OMIM			
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:0061045	autosomal dominant intellectual developmental disorder 72		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 72 | ClinVar Annotator: match by term: SRRM2-related condition	PMID:25741868|PMID:28492532|PMID:29068549|PMID:35567594|PMID:36914870
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:1115	sarcoma		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:1324	lung cancer		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1320904	D	RGD:11038728|PMID:20161708	20160223	RGD		mRNA:splice variants:substantia nigra, amygdala, peripheral blood mononuclear cell (human)	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:1826	epilepsy		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320904	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:630	genetic disease		ISO	RGD:1320904	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:35468861
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:9000053	Headache		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320904	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33057194|PMID:35567594|PMID:37212523|PMID:37272925
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:9007356	Eczema		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	
1310163	Srrm2	serine/arginine repetitive matrix 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1320904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310164	Ddb2	damage specific DNA binding protein 2	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1320906	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum	PMID:26580448|PMID:28492532
1310164	Ddb2	damage specific DNA binding protein 2	gene	DOID:0050427	xeroderma pigmentosum	susceptibility	ISO	RGD:1320906	D	RGD:1601050|PMID:8798680	20070404	RGD		DNA:transitions: :p.K244E, p.R273H	
1310164	Ddb2	damage specific DNA binding protein 2	gene	DOID:0110846	xeroderma pigmentosum group E		ISO	RGD:1320906	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24753253
1310164	Ddb2	damage specific DNA binding protein 2	gene	DOID:0110846	xeroderma pigmentosum group E		ISO	RGD:1320906	D	RGD:7240710	20130425	OMIM			
1310164	Ddb2	damage specific DNA binding protein 2	gene	DOID:0110846	xeroderma pigmentosum group E		ISO	RGD:1320906	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DDB2-related condition | ClinVar Annotator: match by term: Xeroderma pigmentosum, group E | ClinVar Annotator: match by term: xeroderma pigmentosum group E	PMID:10777490|PMID:16964240|PMID:21107348|PMID:25741868|PMID:26884178|PMID:28492532|PMID:8798680
1310164	Ddb2	damage specific DNA binding protein 2	gene	DOID:0110846	xeroderma pigmentosum group E		ISS	RGD:1320907	D	RGD:13592920	20230718	MouseDO		OMIM:278740	
1310164	Ddb2	damage specific DNA binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310164	Ddb2	damage specific DNA binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1320906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310164	Ddb2	damage specific DNA binding protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1320906	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1310164	Ddb2	damage specific DNA binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310164	Ddb2	damage specific DNA binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1320906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1310165	Ptrh1	peptidyl-tRNA hydrolase 1 homolog	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320908	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310166	Chct1	CHD1 helical C-terminal domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310166	Chct1	CHD1 helical C-terminal domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310167	Eea1	early endosome antigen 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310167	Eea1	early endosome antigen 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310167	Eea1	early endosome antigen 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310167	Eea1	early endosome antigen 1	gene	DOID:1909	melanoma		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310167	Eea1	early endosome antigen 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310167	Eea1	early endosome antigen 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310167	Eea1	early endosome antigen 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320911	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310167	Eea1	early endosome antigen 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310167	Eea1	early endosome antigen 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310167	Eea1	early endosome antigen 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310167	Eea1	early endosome antigen 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:0110910	leukocyte adhesion deficiency 1		ISO	RGD:1602673	D	RGD:11352306|PMID:19064721	20160713	RGD		DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human)	
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:0110912	leukocyte adhesion deficiency 3		ISO	RGD:1602673	D	RGD:11352305|PMID:19234463	20160713	RGD		DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human)	
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:0110912	leukocyte adhesion deficiency 3		ISO	RGD:1602673	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:0110912	leukocyte adhesion deficiency 3		ISO	RGD:1602673	D	RGD:7240710	20130221	OMIM			
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:0110912	leukocyte adhesion deficiency 3		ISO	RGD:1602673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LEUKOCYTE ADHESION DEFICIENCY 1 VARIANT | ClinVar Annotator: match by term: LEUKOCYTE ADHESION DEFICIENCY, TYPE III | ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 | ClinVar Annotator: match by term: Leukocyte adhesion deficiency, type III	PMID:16199547|PMID:17576681|PMID:19064721|PMID:19234463|PMID:20216991|PMID:20357244|PMID:22134107|PMID:22139635|PMID:22564402|PMID:24033266|PMID:25502423|PMID:25741868|PMID:26359933|PMID:28492532|PMID:28748566|PMID:31724816|PMID:9536098
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:0110912	leukocyte adhesion deficiency 3		ISS	RGD:1320913	D	RGD:13592920	20230718	MouseDO		OMIM:612840	
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1602673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:13533	osteopetrosis		ISO	RGD:1602673	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18278053
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:1909	melanoma		ISO	RGD:1602673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:2218	blood platelet disease		ISO	RGD:1602673	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18278053
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:2394	ovarian cancer		IEP		D	RGD:11035257|PMID:22818854	20160713	RGD		protein:decreased expression:serum	
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:3275	thymoma		ISO	RGD:1602673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1602673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:630	genetic disease		ISO	RGD:1602673	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:9000146	Plaque, Atherosclerotic	severity	ISO	RGD:1602673	D	RGD:11085957|PMID:26188538	20180530	RGD		mRNA:increased expression:artery	
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:9008217	Hemorrhage		ISO	RGD:1602673	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18278053
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1310168	Fermt3	FERM domain containing kindlin 3	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1602673	D	RGD:11352307|PMID:22391155	20160713	RGD			
1310169	Garin5b	golgi associated RAB2 interactor family member 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310169	Garin5b	golgi associated RAB2 interactor family member 5B	gene	DOID:3275	thymoma		ISO	RGD:1348410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310169	Garin5b	golgi associated RAB2 interactor family member 5B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310169	Garin5b	golgi associated RAB2 interactor family member 5B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310170	B3gnt9	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310170	B3gnt9	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1603192	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17379860
1310170	B3gnt9	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310171	Hook2	hook microtubule-tethering protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310171	Hook2	hook microtubule-tethering protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310171	Hook2	hook microtubule-tethering protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320916	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310171	Hook2	hook microtubule-tethering protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310171	Hook2	hook microtubule-tethering protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310171	Hook2	hook microtubule-tethering protein 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310171	Hook2	hook microtubule-tethering protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310171	Hook2	hook microtubule-tethering protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320916	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310171	Hook2	hook microtubule-tethering protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310171	Hook2	hook microtubule-tethering protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310171	Hook2	hook microtubule-tethering protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320916	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310171	Hook2	hook microtubule-tethering protein 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310171	Hook2	hook microtubule-tethering protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310171	Hook2	hook microtubule-tethering protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310172	Ctdnep1	CTD nuclear envelope phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310172	Ctdnep1	CTD nuclear envelope phosphatase 1	gene	DOID:0080706	medulloblastoma non-WNT/non-SHH		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH	PMID:22832583|PMID:27993330|PMID:31574483|PMID:34852214
1310172	Ctdnep1	CTD nuclear envelope phosphatase 1	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:22820256|PMID:22832583|PMID:27993330|PMID:28726821|PMID:31574483|PMID:34852214
1310172	Ctdnep1	CTD nuclear envelope phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310172	Ctdnep1	CTD nuclear envelope phosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310172	Ctdnep1	CTD nuclear envelope phosphatase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310173	Sp110	SP110 nuclear body protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:0060058	lymphoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:0112254	hepatic venoocclusive disease with immunodeficiency		ISO	RGD:1320919	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310173	Sp110	SP110 nuclear body protein	gene	DOID:0112254	hepatic venoocclusive disease with immunodeficiency		ISO	RGD:1320919	D	RGD:7240710	20260805	OMIM			
1310173	Sp110	SP110 nuclear body protein	gene	DOID:0112254	hepatic venoocclusive disease with immunodeficiency		ISO	RGD:1320919	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency | ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome | ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency | ClinVar Annotator: match by term: hepatic veno-occlusive disease-immunodeficiency syndrome	PMID:16199547|PMID:16648851|PMID:17576681|PMID:22621957|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098
1310173	Sp110	SP110 nuclear body protein	gene	DOID:10534	stomach cancer		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:1115	sarcoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:1324	lung cancer		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:1909	melanoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310173	Sp110	SP110 nuclear body protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:3070	high grade glioma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310173	Sp110	SP110 nuclear body protein	gene	DOID:3275	thymoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:399	tuberculosis		ISO	RGD:1320919	D	RGD:7240710	20260805	OMIM			
1310173	Sp110	SP110 nuclear body protein	gene	DOID:399	tuberculosis		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:4362	cervical cancer		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:630	genetic disease		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1310173	Sp110	SP110 nuclear body protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:0060058	lymphoma		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:0070277	primary autosomal recessive microcephaly 15		ISO	RGD:1606200	D	RGD:7240710	20170405	OMIM			
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:0070277	primary autosomal recessive microcephaly 15		ISO	RGD:1606200	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MFSD2A-related condition | ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES	PMID:25741868|PMID:26005868|PMID:28492532
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:10534	stomach cancer		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:1059	intellectual disability		ISO	RGD:1606200	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26005865
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:10907	microcephaly		ISO	RGD:1606200	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26005865|PMID:26005868
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:10907	microcephaly		ISO	RGD:1606200	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:11383	cryptorchidism		ISO	RGD:1606200	D	RGD:8554872	20200310	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:1324	lung cancer		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:5041	esophageal cancer		ISO	RGD:1606200	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:630	genetic disease		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606200	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606200	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310174	Mfsd2a	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:92	speech disorder		ISO	RGD:1606200	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26005865
1310175	Slc2a12	solute carrier family 2 member 12	gene	DOID:1909	melanoma		ISO	RGD:1320922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310175	Slc2a12	solute carrier family 2 member 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310175	Slc2a12	solute carrier family 2 member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310175	Slc2a12	solute carrier family 2 member 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310176	Gpr61	G protein-coupled receptor 61	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310176	Gpr61	G protein-coupled receptor 61	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1320925	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17599052
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320925	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320925	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320925	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1320925	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17303177
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1320925	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17599052
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310177	Prtfdc1	phosphoribosyl transferase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310178	Cpne3	copine 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310178	Cpne3	copine 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310178	Cpne3	copine 3	gene	DOID:1115	sarcoma		ISO	RGD:1320926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310178	Cpne3	copine 3	gene	DOID:1324	lung cancer		ISO	RGD:1320926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310178	Cpne3	copine 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310178	Cpne3	copine 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1320926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310178	Cpne3	copine 3	gene	DOID:3275	thymoma		ISO	RGD:1320926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310178	Cpne3	copine 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310178	Cpne3	copine 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320926	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310178	Cpne3	copine 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310178	Cpne3	copine 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310178	Cpne3	copine 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320926	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18264096
1310178	Cpne3	copine 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310178	Cpne3	copine 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310178	Cpne3	copine 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1320926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310179	Zfp593	zinc finger protein 593	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1320928	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1310179	Zfp593	zinc finger protein 593	gene	DOID:9000918	Disease Progression		ISO	RGD:1320928	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1310180	Lmf1	lipase maturation factor 1	gene	DOID:0060058	lymphoma		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310180	Lmf1	lipase maturation factor 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1310180	Lmf1	lipase maturation factor 1	gene	DOID:0111422	familial lipase maturation factor 1 deficiency		ISO	RGD:1348602	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1310180	Lmf1	lipase maturation factor 1	gene	DOID:0111422	familial lipase maturation factor 1 deficiency		ISO	RGD:1348602	D	RGD:7240710	20130221	OMIM			
1310180	Lmf1	lipase maturation factor 1	gene	DOID:0111422	familial lipase maturation factor 1 deficiency		ISO	RGD:1348602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LIPASE DEFICIENCY, COMBINED | ClinVar Annotator: match by term: LMF1-related condition | ClinVar Annotator: match by term: LPL AND HTGL DEFICIENCY | ClinVar Annotator: match by term: Lipase deficiency, combined	PMID:17994020|PMID:19820022|PMID:22239554|PMID:24909692|PMID:25741868|PMID:28492532|PMID:28991257|PMID:29910226|PMID:30037590|PMID:30172716|PMID:30337590|PMID:30420299|PMID:30795984|PMID:31619059|PMID:32041611|PMID:32190547|PMID:33303402|PMID:36325899
1310180	Lmf1	lipase maturation factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310180	Lmf1	lipase maturation factor 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868|PMID:28492532|PMID:29910226|PMID:30420299|PMID:32190547
1310180	Lmf1	lipase maturation factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1348602	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:28492532
1310180	Lmf1	lipase maturation factor 1	gene	DOID:1909	melanoma		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310180	Lmf1	lipase maturation factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310180	Lmf1	lipase maturation factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1310180	Lmf1	lipase maturation factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348602	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310180	Lmf1	lipase maturation factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310180	Lmf1	lipase maturation factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1310180	Lmf1	lipase maturation factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1310180	Lmf1	lipase maturation factor 1	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1348602	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:17994020
1310180	Lmf1	lipase maturation factor 1	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:25741868
1310180	Lmf1	lipase maturation factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1310180	Lmf1	lipase maturation factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310180	Lmf1	lipase maturation factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310180	Lmf1	lipase maturation factor 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868|PMID:28492532
1310180	Lmf1	lipase maturation factor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1348602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:10283	prostate cancer		ISO	RGD:1320930	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:10283	prostate cancer		ISO	RGD:1320930	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1320930	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:26928227
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320930	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310181	Ulk2	unc-51 like autophagy activating kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1320930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310182	Arsk	arylsulfatase family, member K	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606445	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1310182	Arsk	arylsulfatase family, member K	gene	DOID:0061128	mucopolysaccharidosis X		ISO	RGD:1606445	D	RGD:7240710	20220112	OMIM			
1310182	Arsk	arylsulfatase family, member K	gene	DOID:0061128	mucopolysaccharidosis X		ISO	RGD:1606445	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARSK-related condition | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE X	PMID:34916232
1310182	Arsk	arylsulfatase family, member K	gene	DOID:0061128	mucopolysaccharidosis X		ISS	RGD:1320932	D	RGD:13592920	20260129	MouseDO		OMIM:619698	
1310182	Arsk	arylsulfatase family, member K	gene	DOID:1115	sarcoma		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310182	Arsk	arylsulfatase family, member K	gene	DOID:1909	melanoma		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310182	Arsk	arylsulfatase family, member K	gene	DOID:4362	cervical cancer		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310182	Arsk	arylsulfatase family, member K	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310182	Arsk	arylsulfatase family, member K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310182	Arsk	arylsulfatase family, member K	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310182	Arsk	arylsulfatase family, member K	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310182	Arsk	arylsulfatase family, member K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310185	Lacc1	laccase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310185	Lacc1	laccase domain containing 1	gene	DOID:1024	leprosy		ISO	RGD:1602651	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Leprosy, susceptibility to, 1	
1310185	Lacc1	laccase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1310185	Lacc1	laccase domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1310185	Lacc1	laccase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1310185	Lacc1	laccase domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310185	Lacc1	laccase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1310185	Lacc1	laccase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
1310185	Lacc1	laccase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602651	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1310185	Lacc1	laccase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1310185	Lacc1	laccase domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
1310185	Lacc1	laccase domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1310185	Lacc1	laccase domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1602651	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310185	Lacc1	laccase domain containing 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1602651	D	RGD:7240710	20200318	OMIM			
1310185	Lacc1	laccase domain containing 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1602651	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JUVENILE ARTHRITIS	PMID:25741868
1310185	Lacc1	laccase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310185	Lacc1	laccase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:10534	stomach cancer		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:1115	sarcoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:1909	melanoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:3070	high grade glioma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:4362	cervical cancer		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:6039	uveal melanoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310186	Ttc13	tetratricopeptide repeat domain 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:0060443	corneal endothelial dystrophy		ISO	RGD:1320941	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL ENDOTHELIAL DYSTROPHY	PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17679935|PMID:18474783|PMID:22072594|PMID:25741868|PMID:28492532
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:0060649	congenital hereditary endothelial dystrophy of cornea		ISO	RGD:1320941	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:0060649	congenital hereditary endothelial dystrophy of cornea		ISO	RGD:1320941	D	RGD:7240710	20130221	OMIM			
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:0060649	congenital hereditary endothelial dystrophy of cornea		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of cornea	PMID:16767101|PMID:16825429|PMID:17679935|PMID:18474783|PMID:25741868|PMID:25811729|PMID:28492532|PMID:29327391
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:0060649	congenital hereditary endothelial dystrophy of cornea		ISS	RGD:1320942	D	RGD:13592920	20230718	MouseDO		OMIM:217700	
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:0110855	posterior polymorphous corneal dystrophy 1		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1	PMID:25182519|PMID:28492532
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:0111620	corneal dystrophy-perceptive deafness syndrome		ISO	RGD:1320941	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:0111620	corneal dystrophy-perceptive deafness syndrome		ISO	RGD:1320941	D	RGD:7240710	20130221	OMIM			
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:0111620	corneal dystrophy-perceptive deafness syndrome		ISO	RGD:1320941	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS | ClinVar Annotator: match by term: Corneal dystrophy and sensorineural deafness | ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome | ClinVar Annotator: match by term: Harboyan syndrome | ClinVar Annotator: match by term: corneal dystrophy-perceptive deafness syndrome	PMID:16199547|PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17576681|PMID:17679935|PMID:18024964|PMID:18474783|PMID:19337156|PMID:19369245|PMID:20848555|PMID:21203343|PMID:22072594|PMID:23615275|PMID:23922488|PMID:24033266|PMID:24348007|PMID:24916015|PMID:25007886|PMID:25182519|PMID:25500497|PMID:25741868|PMID:25741869|PMID:25811729|PMID:26467025|PMID:26619383|PMID:27057589|PMID:27925686|PMID:28263186|PMID:28492532|PMID:29327391|PMID:30140924|PMID:30557570|PMID:30856043|PMID:31323090|PMID:31420327|PMID:31555324|PMID:31691803|PMID:31714402|PMID:32520610|PMID:33541055|PMID:34637099|PMID:35291925|PMID:35672901|PMID:35985662|PMID:36037197|PMID:36902444|PMID:38252645|PMID:38450295|PMID:38990107|PMID:9536098
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:1115	sarcoma		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:1324	lung cancer		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:2566	corneal dystrophy		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy	PMID:18024964|PMID:20848555|PMID:23585771|PMID:23922488|PMID:24348007|PMID:25182519|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28973083|PMID:29327391|PMID:31263352|PMID:31691803|PMID:33816482|PMID:34130750|PMID:36115991
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:3275	thymoma		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:630	genetic disease		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:9004127	Corneal Dystrophy, Fuchs Endothelial, 4		ISO	RGD:1320941	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:9004127	Corneal Dystrophy, Fuchs Endothelial, 4		ISO	RGD:1320941	D	RGD:7240710	20130221	OMIM			
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:9004127	Corneal Dystrophy, Fuchs Endothelial, 4		ISO	RGD:1320941	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 | ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4	PMID:18024964|PMID:22072594|PMID:25007886|PMID:25741868|PMID:28492532|PMID:29327391
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310188	Slc4a11	solute carrier family 4 member 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310189	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:0080600	COVID-19		ISO	RGD:1320943	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1310189	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:1909	melanoma		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310189	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310189	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310189	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320943	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310189	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310189	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:8398	osteoarthritis		ISO	RGD:1320943	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1310189	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310189	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310189	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310189	Dapp1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310190	Snx5	sorting nexin 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310190	Snx5	sorting nexin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310190	Snx5	sorting nexin 5	gene	DOID:1324	lung cancer		ISO	RGD:1320945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310190	Snx5	sorting nexin 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310190	Snx5	sorting nexin 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310190	Snx5	sorting nexin 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1320945	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310190	Snx5	sorting nexin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310190	Snx5	sorting nexin 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310190	Snx5	sorting nexin 5	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1320945	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1310190	Snx5	sorting nexin 5	gene	DOID:9000918	Disease Progression		ISO	RGD:1320945	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1310190	Snx5	sorting nexin 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310190	Snx5	sorting nexin 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:0070289	primary autosomal recessive microcephaly 16		ISO	RGD:1604388	D	RGD:7240710	20160120	OMIM			
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:0070289	primary autosomal recessive microcephaly 16		ISO	RGD:1604388	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANKLE2-related condition | ClinVar Annotator: match by term: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive	PMID:25259927|PMID:25741868|PMID:28492532|PMID:31735666
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:0070297	primary microcephaly		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25259927|PMID:25741868
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25259927|PMID:25741868
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:10907	microcephaly		ISO	RGD:1604388	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25259927
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25259927|PMID:25741868
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: hypotonia	PMID:25259927|PMID:25741868
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	PMID:25259927|PMID:25741868
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310191	Ankle2	ankyrin repeat and LEM domain containing 2	gene	DOID:9834	hyperopia		ISO	RGD:1604388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25259927|PMID:25741868
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:10534	stomach cancer		ISO	RGD:1604501	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:1115	sarcoma		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:1324	lung cancer		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:1574	alcohol use disorder		IEP		D	RGD:405096486|PMID:32057593	20250529	RGD		mRNA:increased expression:prefrontal cortex	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:3070	high grade glioma		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:3275	thymoma		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:4362	cervical cancer		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1604501	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310193	Daglb	diacylglycerol lipase, beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310194	Snrpb2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:1324	lung cancer		ISO	RGD:1320950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310194	Snrpb2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1320950	D	RGD:10755689|PMID:18519667	20160203	RGD		mRNA:altered expression:multiple (human)	
1310194	Snrpb2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:1909	melanoma		ISO	RGD:1320950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310194	Snrpb2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310194	Snrpb2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:3070	high grade glioma		ISO	RGD:1320950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310194	Snrpb2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:4362	cervical cancer		ISO	RGD:1320950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310194	Snrpb2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310194	Snrpb2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:65	connective tissue disease		ISO	RGD:1320950	D	RGD:10448928|PMID:2968364	20160202	RGD			
1310195	Hjv	hemojuvelin BMP co-receptor	gene	DOID:0111027	hemochromatosis type 2A		ISO	RGD:1320952	D	RGD:7240710	20190315	OMIM			
1310195	Hjv	hemojuvelin BMP co-receptor	gene	DOID:0111027	hemochromatosis type 2A		ISO	RGD:1320952	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HEMOCHROMATOSIS, TYPE 2A | ClinVar Annotator: match by term: HJV-related condition | ClinVar Annotator: match by term: Hemochromatosis type 2A	PMID:14647275|PMID:14982867|PMID:14982873|PMID:15138164|PMID:15194541|PMID:15254010|PMID:15315789|PMID:15610558|PMID:15611318|PMID:15710580|PMID:15775751|PMID:15811010|PMID:15967692|PMID:16103117|PMID:16424663|PMID:17264300|PMID:17339196|PMID:17726683|PMID:17938254|PMID:18287331|PMID:18492090|PMID:18827264|PMID:18976966|PMID:19342478|PMID:19796184|PMID:19907145|PMID:20301349|PMID:21901660|PMID:22408404|PMID:24635876|PMID:25152992|PMID:25741868|PMID:26151776|PMID:26633544|PMID:27753142|PMID:28492532|PMID:29764732|PMID:30166352|PMID:3019562|PMID:30195625|PMID:30389309|PMID:30500107|PMID:31472034|PMID:32824233|PMID:34583728|PMID:34946929|PMID:37168645|PMID:37990447
1310195	Hjv	hemojuvelin BMP co-receptor	gene	DOID:0111027	hemochromatosis type 2A		ISS	RGD:1551463	D	RGD:13592920	20230718	MouseDO		OMIM:602390	
1310195	Hjv	hemojuvelin BMP co-receptor	gene	DOID:0111034	hemochromatosis type 2		ISO	RGD:1320952	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	
1310195	Hjv	hemojuvelin BMP co-receptor	gene	DOID:13580	cholestasis		ISO	RGD:1320952	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
1310195	Hjv	hemojuvelin BMP co-receptor	gene	DOID:2352	hemochromatosis		ISO	RGD:1320952	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16868025|PMID:17255318|PMID:19252486|PMID:21411349
1310195	Hjv	hemojuvelin BMP co-receptor	gene	DOID:2352	hemochromatosis		ISO	RGD:1320952	D	RGD:1599478|PMID:14647275	20070205	RGD		juvenile hemochromatosis, type 2A, OMIM:602390	
1310195	Hjv	hemojuvelin BMP co-receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320952	D	RGD:11554173	20190409	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310196	Washc1	WASH complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1626557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310196	Washc1	WASH complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1626557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310196	Washc1	WASH complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1626557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310197	Slc26a6	solute carrier family 26 member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310197	Slc26a6	solute carrier family 26 member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310197	Slc26a6	solute carrier family 26 member 6	gene	DOID:1324	lung cancer		ISO	RGD:1320955	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310197	Slc26a6	solute carrier family 26 member 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310197	Slc26a6	solute carrier family 26 member 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310197	Slc26a6	solute carrier family 26 member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1320955	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310197	Slc26a6	solute carrier family 26 member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310197	Slc26a6	solute carrier family 26 member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310197	Slc26a6	solute carrier family 26 member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320955	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310197	Slc26a6	solute carrier family 26 member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320955	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310197	Slc26a6	solute carrier family 26 member 6	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:1320955	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hyperoxaluria	PMID:25741868
1310197	Slc26a6	solute carrier family 26 member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310197	Slc26a6	solute carrier family 26 member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310198	Polr2j	RNA polymerase II subunit J	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310198	Polr2j	RNA polymerase II subunit J	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310198	Polr2j	RNA polymerase II subunit J	gene	DOID:2394	ovarian cancer		ISO	RGD:1320957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310198	Polr2j	RNA polymerase II subunit J	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320957	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310198	Polr2j	RNA polymerase II subunit J	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310198	Polr2j	RNA polymerase II subunit J	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310199	Ino80c	INO80 complex subunit C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310199	Ino80c	INO80 complex subunit C	gene	DOID:10534	stomach cancer		ISO	RGD:1320959	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310199	Ino80c	INO80 complex subunit C	gene	DOID:1115	sarcoma		ISO	RGD:1320959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310199	Ino80c	INO80 complex subunit C	gene	DOID:1324	lung cancer		ISO	RGD:1320959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310199	Ino80c	INO80 complex subunit C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310199	Ino80c	INO80 complex subunit C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310199	Ino80c	INO80 complex subunit C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310200	Wdhd1	WD repeat and HMG-box DNA binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310200	Wdhd1	WD repeat and HMG-box DNA binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1320961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310200	Wdhd1	WD repeat and HMG-box DNA binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1320961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310200	Wdhd1	WD repeat and HMG-box DNA binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310200	Wdhd1	WD repeat and HMG-box DNA binding protein 1	gene	DOID:4947	cholangiocarcinoma	ameliorates	ISO	RGD:1320961	D	RGD:156420141|PMID:30314946	20230215	RGD			
1310200	Wdhd1	WD repeat and HMG-box DNA binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320961	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310200	Wdhd1	WD repeat and HMG-box DNA binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310200	Wdhd1	WD repeat and HMG-box DNA binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310200	Wdhd1	WD repeat and HMG-box DNA binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310200	Wdhd1	WD repeat and HMG-box DNA binding protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310200	Wdhd1	WD repeat and HMG-box DNA binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310200	Wdhd1	WD repeat and HMG-box DNA binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310200	Wdhd1	WD repeat and HMG-box DNA binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310201	Alx4	ALX homeobox 4	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310201	Alx4	ALX homeobox 4	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:0060285	parietal foramina		ISO	RGD:1320963	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:11137991
1310201	Alx4	ALX homeobox 4	gene	DOID:0060285	parietal foramina		ISO	RGD:1320963	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Enlarged Parietal Foramina | ClinVar Annotator: match by term: Enlarged parietal foramina	
1310201	Alx4	ALX homeobox 4	gene	DOID:0060285	parietal foramina		ISS	RGD:1320964	D	RGD:13592920	20230718	MouseDO		OMIM:168500 | OMIM:609566 | OMIM:609597	
1310201	Alx4	ALX homeobox 4	gene	DOID:0060320	inguinal hernia		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:0061011	craniosynostosis 3		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Coronal craniosynostosis	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:0081044	frontonasal dysplasia		ISO	RGD:1320963	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1310201	Alx4	ALX homeobox 4	gene	DOID:0081046	frontonasal dysplasia 2		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: FRONTONASAL DYSPLASIA 2 | ClinVar Annotator: match by term: Frontonasal dysplasia 2 | ClinVar Annotator: match by term: Frontonasal dysplasia with alopecia and genital anomaly	PMID:19692347|PMID:25741868|PMID:28492532|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:0081046	frontonasal dysplasia 2	susceptibility	ISO	RGD:1320963	D	RGD:7240710	20260812	OMIM			
1310201	Alx4	ALX homeobox 4	gene	DOID:10211	cholelithiasis		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cholelithiasis	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:10376	amblyopia		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:10488	imperforate anus		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:1059	intellectual disability		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:10907	microcephaly		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:11400	pyelonephritis		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pyelonephritis	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:1148	polydactyly		ISO	RGD:1320963	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9847249
1310201	Alx4	ALX homeobox 4	gene	DOID:12273	anisometropia		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anisometropia	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:12639	pyloric stenosis		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pyloric stenosis	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:1324	lung cancer		ISO	RGD:1320963	D	RGD:153344522|PMID:24037716	20221116	RGD		DNA:hypermethylation:CpG_island:	
1310201	Alx4	ALX homeobox 4	gene	DOID:1324	lung cancer		ISO	RGD:1320963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310201	Alx4	ALX homeobox 4	gene	DOID:1459	hypothyroidism		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:1826	epilepsy		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1320963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
1310201	Alx4	ALX homeobox 4	gene	DOID:2340	craniosynostosis		ISO	RGD:1320963	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1310201	Alx4	ALX homeobox 4	gene	DOID:2846	bruxism		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:3717	gastric adenocarcinoma	severity	ISO	RGD:1320963	D	RGD:153344544|PMID:27895854	20220824	RGD			
1310201	Alx4	ALX homeobox 4	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1320963	D	RGD:153350135|PMID:18978557	20221116	RGD			
1310201	Alx4	ALX homeobox 4	gene	DOID:4926	bronchiolo-alveolar adenocarcinoma	ameliorates	ISO	RGD:1320963	D	RGD:153344522|PMID:24037716	20221116	RGD			
1310201	Alx4	ALX homeobox 4	gene	DOID:4992	optic nerve glioma		ISO	RGD:1320963	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Optic nerve glioma	PMID:25741868
1310201	Alx4	ALX homeobox 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310201	Alx4	ALX homeobox 4	gene	DOID:630	genetic disease		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19692347|PMID:25741868|PMID:28492532|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:684	hepatocellular carcinoma		IEP		D	RGD:153323330|PMID:31132711	20220816	RGD		mRNA, protein:decreased expression:liver	
1310201	Alx4	ALX homeobox 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320963	D	RGD:153323329|PMID:28081728	20220816	RGD		mRNA, protein:decreased expression:liver	
1310201	Alx4	ALX homeobox 4	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1320963	D	RGD:153323330|PMID:31132711	20220816	RGD			
1310201	Alx4	ALX homeobox 4	gene	DOID:850	lung disease		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:9000101	Rectovaginal Fistula		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Rectovaginal fistula	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:9001441	Adenomatous Polyps	severity	ISO	RGD:1320963	D	RGD:153344541|PMID:20140221	20220824	RGD		DNA:altered methylation:plasma:	
1310201	Alx4	ALX homeobox 4	gene	DOID:9003133	Hypertelorism		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:9005077	Joint Instability		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1320963	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24037716
1310201	Alx4	ALX homeobox 4	gene	DOID:9005530	Craniosynostosis 5		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to	PMID:19692347|PMID:25741868|PMID:28492532|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:9005530	Craniosynostosis 5	susceptibility	ISO	RGD:1320963	D	RGD:7240710	20260812	OMIM			
1310201	Alx4	ALX homeobox 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:9006617	Fatigue		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:9008131	Parietal Foramina 2		ISO	RGD:1320963	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310201	Alx4	ALX homeobox 4	gene	DOID:9008131	Parietal Foramina 2		ISO	RGD:1320963	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PARIETAL FORAMINA 2 | ClinVar Annotator: match by term: Parietal foramina 2 | ClinVar Annotator: match by term: parietal foramina 2	PMID:15489411|PMID:22829454|PMID:25741868|PMID:28492532|PMID:33269135
1310201	Alx4	ALX homeobox 4	gene	DOID:9008131	Parietal Foramina 2	susceptibility	ISO	RGD:1320963	D	RGD:7240710	20260812	OMIM			
1310201	Alx4	ALX homeobox 4	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320963	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9847249
1310201	Alx4	ALX homeobox 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1320963	D	RGD:153323327|PMID:17101318	20220816	RGD		DNA:hypermethylation:serum:	
1310201	Alx4	ALX homeobox 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1320963	D	RGD:153344524|PMID:26918234	20220819	RGD		DNA:hypermethylation:serum:	
1310201	Alx4	ALX homeobox 4	gene	DOID:9834	hyperopia		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:19692347|PMID:25741868|PMID:39157323
1310201	Alx4	ALX homeobox 4	gene	DOID:9840	esotropia		ISO	RGD:1320963	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:19692347|PMID:25741868|PMID:39157323
1310202	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310202	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:1115	sarcoma		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310202	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:1909	melanoma		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310202	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:3070	high grade glioma		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310202	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:3275	thymoma		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310202	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310202	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310202	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310202	Galnt16	polypeptide N-acetylgalactosaminyltransferase 16	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1320965	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1310203	Mrpl21	mitochondrial ribosomal protein L21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310203	Mrpl21	mitochondrial ribosomal protein L21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310203	Mrpl21	mitochondrial ribosomal protein L21	gene	DOID:1324	lung cancer		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310203	Mrpl21	mitochondrial ribosomal protein L21	gene	DOID:4362	cervical cancer		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310203	Mrpl21	mitochondrial ribosomal protein L21	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310203	Mrpl21	mitochondrial ribosomal protein L21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310203	Mrpl21	mitochondrial ribosomal protein L21	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320967	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310203	Mrpl21	mitochondrial ribosomal protein L21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310203	Mrpl21	mitochondrial ribosomal protein L21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310204	Ppwd1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310204	Ppwd1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601770	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310204	Ppwd1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1601770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310204	Ppwd1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:1909	melanoma		ISO	RGD:1601770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310204	Ppwd1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:3275	thymoma		ISO	RGD:1601770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310204	Ppwd1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310204	Ppwd1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1601770	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310204	Ppwd1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310204	Ppwd1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310205	Glipr1l2	GLIPR1 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310205	Glipr1l2	GLIPR1 like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310205	Glipr1l2	GLIPR1 like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:0070456	hereditary spastic paraplegia 87		ISO	RGD:1320973	D	RGD:7240710	20220810	OMIM			
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:0070456	hereditary spastic paraplegia 87		ISO	RGD:1320973	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 87, autosomal recessive	PMID:25741868
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:10534	stomach cancer		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:1059	intellectual disability		ISO	RGD:1320973	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1320973	D	RGD:15023481|PMID:30900988	20210819	RGD		protein:decreased expression:kidney,renal glomerulus (human)	
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:1324	lung cancer		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:3070	high grade glioma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:9001542	Albuminuria		IEP		D	RGD:15023481|PMID:30900988	20210819	RGD		mRNA:increased expression:kidney,renal glomerulus (rat)	
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310207	Tmem63c	transmembrane protein 63c	gene	DOID:9256	colorectal cancer		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310208	Bloc1s6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310208	Bloc1s6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISO	RGD:1320975	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	PMID:25741868|PMID:28492532|PMID:33543539
1310208	Bloc1s6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:0060547	Hermansky-Pudlak syndrome 9		ISO	RGD:1320975	D	RGD:7240710	20140911	OMIM			
1310208	Bloc1s6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:0060547	Hermansky-Pudlak syndrome 9		ISO	RGD:1320975	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLOC1S6-related condition | ClinVar Annotator: match by term: HERMANSKY-PUDLAK SYNDROME 9 | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9	PMID:10610180|PMID:16199547|PMID:17576681|PMID:21665000|PMID:22461475|PMID:25741868|PMID:28492532|PMID:32245340|PMID:33543539|PMID:9536098
1310208	Bloc1s6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:0060547	Hermansky-Pudlak syndrome 9		ISS	RGD:1320976	D	RGD:13592920	20230718	MouseDO		OMIM:614171	
1310208	Bloc1s6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:2223	platelet storage pool deficiency		ISS	RGD:1320976	D	RGD:13592920	20180518	MouseDO		OMIM:185050	
1310208	Bloc1s6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1320975	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1310208	Bloc1s6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1320975	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome	PMID:10610180|PMID:21665000|PMID:22461475|PMID:25741868|PMID:26575419|PMID:28492532|PMID:33543539
1310208	Bloc1s6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1320975	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310208	Bloc1s6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:630	genetic disease		ISO	RGD:1320975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310208	Bloc1s6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:9675	pulmonary emphysema		ISS	RGD:1320976	D	RGD:13592920	20180518	MouseDO		OMIM:130700	
1310209	Elapor1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310209	Elapor1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:0060058	lymphoma		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310209	Elapor1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310209	Elapor1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310209	Elapor1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310209	Elapor1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310209	Elapor1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310209	Elapor1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310209	Elapor1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310209	Elapor1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310209	Elapor1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310209	Elapor1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0050562	West syndrome		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0050840	cervical dystonia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0060157	diffuse alopecia areata		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patchy alopecia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0060180	colitis		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colitis	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0060249	scoliosis		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0060320	inguinal hernia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0112218	developmental and epileptic encephalopathy 83		ISO	RGD:1320978	D	RGD:7240710	20200226	OMIM			
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:0112218	developmental and epileptic encephalopathy 83		ISO	RGD:1320978	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:10907	microcephaly		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:11111	hydronephrosis		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:11162	respiratory failure		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:1143	exotropia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:11714	gestational diabetes		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:12197	punctate epithelial keratoconjunctivitis		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Punctate keratitis	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:12215	oligohydramnios		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:12959	lagophthalmos		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lagophthalmos	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:1826	epilepsy		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:2234	focal epilepsy		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:2355	anemia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:2841	asthma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:2942	bronchiolitis		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiolitis	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:3275	thymoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320978	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:535	sleep disorder		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:543	dystonia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:6195	conjunctivitis		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Conjunctivitis	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:630	genetic disease		ISO	RGD:1320978	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:8446	intussusception		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intussusception	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:850	lung disease		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:870	neuropathy		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9001581	Constipation		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9002554	Tachycardia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9005827	Spontaneous Fractures		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pathologic fracture	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9007001	Bradycardia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9007105	Hyperemesis Gravidarum		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperemesis gravidarum	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9007817	Macroglossia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9008520	Chronic Pain		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic pain	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9008760	Oliguria		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oliguria	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:25741868|PMID:28492532|PMID:31820119
1310210	Ugp2	UDP-glucose pyrophosphorylase 2	gene	DOID:9834	hyperopia		ISO	RGD:1320978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532|PMID:31820119
1310211	Ngdn	neuroguidin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310211	Ngdn	neuroguidin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310211	Ngdn	neuroguidin	gene	DOID:1909	melanoma		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310211	Ngdn	neuroguidin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310211	Ngdn	neuroguidin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310211	Ngdn	neuroguidin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310211	Ngdn	neuroguidin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310211	Ngdn	neuroguidin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310211	Ngdn	neuroguidin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310213	Orai2	ORAI calcium release-activated calcium modulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310213	Orai2	ORAI calcium release-activated calcium modulator 2	gene	DOID:1115	sarcoma		ISO	RGD:1320982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310213	Orai2	ORAI calcium release-activated calcium modulator 2	gene	DOID:1324	lung cancer		ISO	RGD:1320982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310213	Orai2	ORAI calcium release-activated calcium modulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310213	Orai2	ORAI calcium release-activated calcium modulator 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310213	Orai2	ORAI calcium release-activated calcium modulator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310215	Taf5l1	TATA-box binding protein associated factor 5 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310215	Taf5l1	TATA-box binding protein associated factor 5 like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310215	Taf5l1	TATA-box binding protein associated factor 5 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320985	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310215	Taf5l1	TATA-box binding protein associated factor 5 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310215	Taf5l1	TATA-box binding protein associated factor 5 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310215	Taf5l1	TATA-box binding protein associated factor 5 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310216	Smtn	smoothelin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310216	Smtn	smoothelin	gene	DOID:0080600	COVID-19		ISO	RGD:1320987	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310216	Smtn	smoothelin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310216	Smtn	smoothelin	gene	DOID:1115	sarcoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310216	Smtn	smoothelin	gene	DOID:1324	lung cancer		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310216	Smtn	smoothelin	gene	DOID:1909	melanoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310216	Smtn	smoothelin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310216	Smtn	smoothelin	gene	DOID:3275	thymoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310216	Smtn	smoothelin	gene	DOID:4362	cervical cancer		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310216	Smtn	smoothelin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310216	Smtn	smoothelin	gene	DOID:5041	esophageal cancer		ISO	RGD:1320987	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310216	Smtn	smoothelin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310216	Smtn	smoothelin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310216	Smtn	smoothelin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310216	Smtn	smoothelin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310216	Smtn	smoothelin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320987	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:0070694	neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities		ISO	RGD:1320989	D	RGD:7240710	20260506	OMIM			
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:0070694	neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities		ISO	RGD:1320989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CONGENITAL CARDIAC DEFECTS AND VARIABLE RENAL AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities	PMID:25741868|PMID:30712878|PMID:36322151|PMID:40420380
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:0080074	neural tube defect		ISO	RGD:1320990	D	RGD:9588256|PMID:21220025	20141023	RGD			
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		IAGP		D	RGD:9588252|PMID:18250326	20141023	RGD		DNA:insertions:promoter:multiple (rat)	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1320989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:1115	sarcoma		ISO	RGD:1320989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:1909	melanoma		ISO	RGD:1320989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:3275	thymoma		ISO	RGD:1320989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:3587	pancreatic ductal carcinoma	severity	ISO	RGD:1320989	D	RGD:9588253|PMID:23321669	20141023	RGD		mRNA, protein:increased expression:pancreas (human)	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1320989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1320989	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:5419	schizophrenia		ISO	RGD:1320989	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1320989	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Severe Combined Immunodeficiency	PMID:25741868
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:630	genetic disease		ISO	RGD:1320989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:35904121|PMID:36322151
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KDM2B-related disorder | ClinVar Annotator: match by term: KDM2B-related syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:36322151|PMID:40420380
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320989	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310217	Kdm2b	lysine demethylase 2B	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1320989	D	RGD:9588255|PMID:21310926	20141023	RGD		mRNA:increased expression:bone marrow (human)	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1320991	D	RGD:11041796|PMID:21692051	20160329	RGD		DNA:hypermethylation:3' utr: (human)	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:1115	sarcoma		ISO	RGD:1320991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1320991	D	RGD:11041753|PMID:19915612	20160328	RGD		DNA:snp:intron:c.2171-314T>C (rs2025811) (human)	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:1824	status epilepticus		IEP		D	RGD:11041797|PMID:26869208	20160329	RGD		mRNA:increased expression:hippocampus (rat)	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:1909	melanoma		ISO	RGD:1320991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:1967	leiomyosarcoma		ISO	RGD:1320991	D	RGD:11041788|PMID:24485798	20160329	RGD		mRNA:increased expression:uterus (human)	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:3070	high grade glioma		ISO	RGD:1320991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:3275	thymoma		ISO	RGD:1320991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320991	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310218	Xrn2	5'-3' exoribonuclease 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310219	Cryzl1	crystallin zeta like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310219	Cryzl1	crystallin zeta like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310219	Cryzl1	crystallin zeta like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310219	Cryzl1	crystallin zeta like 1	gene	DOID:1909	melanoma		ISO	RGD:1320993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310219	Cryzl1	crystallin zeta like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310219	Cryzl1	crystallin zeta like 1	gene	DOID:3070	high grade glioma		ISO	RGD:1320993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310219	Cryzl1	crystallin zeta like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310219	Cryzl1	crystallin zeta like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310219	Cryzl1	crystallin zeta like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320993	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310219	Cryzl1	crystallin zeta like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310219	Cryzl1	crystallin zeta like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310219	Cryzl1	crystallin zeta like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310219	Cryzl1	crystallin zeta like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310221	Gna13	G protein subunit alpha 13	gene	DOID:0060058	lymphoma		ISO	RGD:1320997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310221	Gna13	G protein subunit alpha 13	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1320997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1310221	Gna13	G protein subunit alpha 13	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:1320997	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143597
1310221	Gna13	G protein subunit alpha 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310221	Gna13	G protein subunit alpha 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310222	Ifrd2	interferon-related developmental regulator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310222	Ifrd2	interferon-related developmental regulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310222	Ifrd2	interferon-related developmental regulator 2	gene	DOID:1115	sarcoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310222	Ifrd2	interferon-related developmental regulator 2	gene	DOID:1909	melanoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310222	Ifrd2	interferon-related developmental regulator 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310222	Ifrd2	interferon-related developmental regulator 2	gene	DOID:3070	high grade glioma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310222	Ifrd2	interferon-related developmental regulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310222	Ifrd2	interferon-related developmental regulator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320999	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310222	Ifrd2	interferon-related developmental regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310222	Ifrd2	interferon-related developmental regulator 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1310222	Ifrd2	interferon-related developmental regulator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310225	Fbxo43	F-box protein 43	gene	DOID:0112353	spermatogenic failure 64		ISO	RGD:1321003	D	RGD:7240710	20220112	OMIM			
1310225	Fbxo43	F-box protein 43	gene	DOID:0112353	spermatogenic failure 64		ISO	RGD:1321003	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 64	
1310225	Fbxo43	F-box protein 43	gene	DOID:10534	stomach cancer		ISO	RGD:1321003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310225	Fbxo43	F-box protein 43	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310225	Fbxo43	F-box protein 43	gene	DOID:3275	thymoma		ISO	RGD:1321003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310225	Fbxo43	F-box protein 43	gene	DOID:4362	cervical cancer		ISO	RGD:1321003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310225	Fbxo43	F-box protein 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310225	Fbxo43	F-box protein 43	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310225	Fbxo43	F-box protein 43	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310225	Fbxo43	F-box protein 43	gene	DOID:9003492	Oocyte/Zygote/Embryo Maturation Arrest 12		ISO	RGD:1321003	D	RGD:7240710	20220112	OMIM			
1310225	Fbxo43	F-box protein 43	gene	DOID:9003492	Oocyte/Zygote/Embryo Maturation Arrest 12		ISO	RGD:1321003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12 | ClinVar Annotator: match by term: Oocyte maturation defect 12	PMID:25741868|PMID:36413997
1310226	Frs3	fibroblast growth factor receptor substrate 3	gene	DOID:1115	sarcoma		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310226	Frs3	fibroblast growth factor receptor substrate 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310226	Frs3	fibroblast growth factor receptor substrate 3	gene	DOID:3275	thymoma		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310226	Frs3	fibroblast growth factor receptor substrate 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310226	Frs3	fibroblast growth factor receptor substrate 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310226	Frs3	fibroblast growth factor receptor substrate 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310226	Frs3	fibroblast growth factor receptor substrate 3	gene	DOID:905	Zellweger syndrome		ISO	RGD:1321005	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Zellweger Spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1321007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonsyndromic Deafness	PMID:25601850
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:0060357	chylomicron retention disease		ISO	RGD:1321007	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Chylomicron retention disease	PMID:25741868|PMID:27469900
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:0110517	autosomal recessive nonsyndromic deafness 66		ISO	RGD:1321007	D	RGD:10412291|PMID:25601850	20170630	RGD		DNA:missense mutation:cds:p.Q424P (human)	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:0110517	autosomal recessive nonsyndromic deafness 66		ISO	RGD:1321007	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:0110517	autosomal recessive nonsyndromic deafness 66		ISO	RGD:1321007	D	RGD:7240710	20150708	OMIM			
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:0110517	autosomal recessive nonsyndromic deafness 66		ISO	RGD:1321007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 66	PMID:16199547|PMID:25557784|PMID:25601850|PMID:25741868|PMID:27319779|PMID:27469900|PMID:28492532|PMID:31589614|PMID:32205117
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:0111126	nephronophthisis 19		ISO	RGD:1321007	D	RGD:7240710	20160914	OMIM			
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:0111126	nephronophthisis 19		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEPHRONOPHTHISIS 19 | ClinVar Annotator: match by term: Nephronophthisis 19	PMID:16199547|PMID:25557784|PMID:25741868|PMID:26467025|PMID:27319779|PMID:27469900|PMID:28492532|PMID:31589614|PMID:31821705|PMID:32205117|PMID:36147510
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:10534	stomach cancer		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:10762	portal hypertension		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Portal hypertension	PMID:25557784|PMID:25741868|PMID:27319779|PMID:27469900|PMID:28492532|PMID:31589614
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1321007	D	RGD:12910980|PMID:27501527	20170630	RGD		DNA:snp:intron:c.923-1870T>C (human) (rs793862)	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:1115	sarcoma		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:112	esophageal varix		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal varix	PMID:25557784|PMID:25741868|PMID:27319779|PMID:27469900|PMID:28492532|PMID:31589614
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:14268	sclerosing cholangitis		ISO	RGD:1321007	D	RGD:11568452|PMID:27319779	20170630	RGD		DNA:missense mutation, deletion:cds:p.K17N, p.F142_R186del (human)	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:14268	sclerosing cholangitis		ISO	RGD:1321007	D	RGD:7240710	20220420	OMIM			
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:14268	sclerosing cholangitis		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Isolated neonatal sclerosing cholangitis	PMID:16199547|PMID:17576681|PMID:25557784|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27319779|PMID:27469900|PMID:28492532|PMID:31589614|PMID:32205117|PMID:9536098
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:3275	thymoma		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:4362	cervical cancer		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:4428	dyslexia		ISO	RGD:1622142	D	RGD:12910976|PMID:25130614	20170630	RGD			
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:4428	dyslexia	susceptibility	ISO	RGD:1321007	D	RGD:11532935|PMID:27100778	20170630	RGD		DNA:snp:intron:c.760-430G>A (human) (rs807724)	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:4428	dyslexia	susceptibility	ISO	RGD:1321007	D	RGD:12910971|PMID:22750057	20170630	RGD		DNA:snps:multiple (human)	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:4428	dyslexia	susceptibility	ISO	RGD:1321007	D	RGD:12910973|PMID:20068590	20170630	RGD		DNA:snps:introns:c.558-3950G>C, c.1326+252C>T (human) (rs1091047, rs1419228)	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:4428	dyslexia	susceptibility	ISO	RGD:1321007	D	RGD:12910975|PMID:19238550	20170630	RGD		DNA:deletion, snps:introns:multiple (human)	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:5082	liver cirrhosis		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cirrhosis of liver	PMID:25557784|PMID:25741868|PMID:27319779|PMID:27469900|PMID:28492532|PMID:31589614
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:630	genetic disease		ISO	RGD:1321007	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	PMID:25741868
1310227	Dcdc2a	doublecortin domain containing 2a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310228	Rpp40	ribonuclease P/MRP subunit p40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310228	Rpp40	ribonuclease P/MRP subunit p40	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310228	Rpp40	ribonuclease P/MRP subunit p40	gene	DOID:1115	sarcoma		ISO	RGD:1321008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310228	Rpp40	ribonuclease P/MRP subunit p40	gene	DOID:4362	cervical cancer		ISO	RGD:1321008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310228	Rpp40	ribonuclease P/MRP subunit p40	gene	DOID:5041	esophageal cancer		ISO	RGD:1321008	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310228	Rpp40	ribonuclease P/MRP subunit p40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310228	Rpp40	ribonuclease P/MRP subunit p40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310229	Dusp29	dual specificity phosphatase 29	gene	DOID:5041	esophageal cancer		ISO	RGD:1321010	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310229	Dusp29	dual specificity phosphatase 29	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310230	Mff	mitochondrial fission factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310230	Mff	mitochondrial fission factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310230	Mff	mitochondrial fission factor	gene	DOID:0051064	left ventricular failure		ISO	RGD:1321011	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:23867156
1310230	Mff	mitochondrial fission factor	gene	DOID:0060994	encephalopathy due to defective mitochondrial and peroxisomal fission 2		ISO	RGD:1321011	D	RGD:7240710	20190315	OMIM			
1310230	Mff	mitochondrial fission factor	gene	DOID:0060994	encephalopathy due to defective mitochondrial and peroxisomal fission 2		ISO	RGD:1321011	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 | ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | ClinVar Annotator: match by term: MFF-related condition	PMID:25741868|PMID:28492532
1310230	Mff	mitochondrial fission factor	gene	DOID:10534	stomach cancer		ISO	RGD:1321011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310230	Mff	mitochondrial fission factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310230	Mff	mitochondrial fission factor	gene	DOID:224	transient cerebral ischemia	treatment	IDA		D	RGD:12879457|PMID:26116440	20170420	RGD			
1310230	Mff	mitochondrial fission factor	gene	DOID:3070	high grade glioma		ISO	RGD:1321011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310230	Mff	mitochondrial fission factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310230	Mff	mitochondrial fission factor	gene	DOID:5844	myocardial infarction		ISO	RGD:1321011	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:23867156
1310230	Mff	mitochondrial fission factor	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:1321012	D	RGD:12879458|PMID:23867156	20170420	RGD			
1310230	Mff	mitochondrial fission factor	gene	DOID:630	genetic disease		ISO	RGD:1321011	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310230	Mff	mitochondrial fission factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310230	Mff	mitochondrial fission factor	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:1321011	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial encephalomyopathy	
1310230	Mff	mitochondrial fission factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310230	Mff	mitochondrial fission factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310232	Sall3	spalt-like transcription factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310232	Sall3	spalt-like transcription factor 3	gene	DOID:1909	melanoma		ISO	RGD:1321014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310232	Sall3	spalt-like transcription factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310232	Sall3	spalt-like transcription factor 3	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:1321014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143597
1310232	Sall3	spalt-like transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310232	Sall3	spalt-like transcription factor 3	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1321014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15282310
1310232	Sall3	spalt-like transcription factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310232	Sall3	spalt-like transcription factor 3	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1321014	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1321015	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:24700674|PMID:25741868|PMID:32979048
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33001864|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:0110802	hereditary spastic paraplegia 50		ISO	RGD:1321015	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:0110802	hereditary spastic paraplegia 50		ISO	RGD:1321015	D	RGD:7240710	20141216	OMIM			
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:0110802	hereditary spastic paraplegia 50		ISO	RGD:1321015	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 50	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21937992|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:26077850|PMID:28464862|PMID:28492532|PMID:28832565|PMID:29096665|PMID:29302074|PMID:31230720|PMID:31359954|PMID:32979048|PMID:32989326|PMID:33001864|PMID:33813722|PMID:34087981|PMID:36371792|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:0110802	hereditary spastic paraplegia 50		ISO	RGD:1321015	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 50, autosomal recessive	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21937992|PMID:24700674|PMID:25496299|PMID:25558065|PMID:25741868|PMID:26077850|PMID:28464862|PMID:28492532|PMID:29096665|PMID:29302074|PMID:29473051|PMID:31359954|PMID:31915823|PMID:32979048|PMID:32989326|PMID:33001864|PMID:33813722|PMID:34087981|PMID:35322241|PMID:35795805|PMID:36371792|PMID:36964972|PMID:37486637|PMID:41018996|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:1059	intellectual disability		ISO	RGD:1321015	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:1059	intellectual disability		ISO	RGD:1321015	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome	PMID:18414213|PMID:19481195|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32979048
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:1059	intellectual disability		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:18414213|PMID:24700674|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28464862|PMID:28492532|PMID:32979048|PMID:36371792
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microangiopathic hemolytic anemia	PMID:24700674|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28464862|PMID:28492532|PMID:32979048|PMID:36371792
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:10907	microcephaly		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:24700674|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28464862|PMID:28492532|PMID:32979048|PMID:36371792
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33001864|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:10965	spastic diplegia		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33001864|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:11720	distal myopathy		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33001864|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:12849	autistic disorder		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:1324	lung cancer		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:1826	epilepsy		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24700674|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28464862|PMID:28492532|PMID:32979048|PMID:36371792
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:1909	melanoma		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532|PMID:32979048
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1321015	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:16199547|PMID:17576681|PMID:18414213|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32979048|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:16199547|PMID:17576681|PMID:24700674|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32979048|PMID:33001864|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:423	myopathy		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal myopathy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33001864|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:540	strabismus		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:24700674|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28464862|PMID:28492532|PMID:32979048|PMID:36371792
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:543	dystonia		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb dystonia	PMID:24700674|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28464862|PMID:28492532|PMID:32979048|PMID:36371792
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532|PMID:32979048
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:583	hemolytic anemia		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microangiopathic hemolytic anemia	PMID:24700674|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28464862|PMID:28492532|PMID:32979048|PMID:36371792
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:607	paraplegia		ISO	RGD:1321015	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:24700674|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28464862|PMID:28492532|PMID:29096665|PMID:31915823|PMID:32979048|PMID:35322241|PMID:36371792|PMID:36964972
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:630	genetic disease		ISO	RGD:1321015	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29096665|PMID:32979048|PMID:35322241|PMID:36964972|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:7319	axonal neuropathy		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor axonal neuropathy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33001864|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:767	muscular atrophy		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33001864|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33001864|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33001864|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:9004866	Ataxia		ISO	RGD:1321015	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:24700674|PMID:25741868|PMID:32979048
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24700674|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28464862|PMID:28492532|PMID:32979048|PMID:36371792
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321015	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:24700674|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28464862|PMID:28492532|PMID:32979048|PMID:36371792
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1321015	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17576681|PMID:24700674|PMID:25741868|PMID:28492532|PMID:32979048|PMID:33001864|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:9007722	Myoclonus		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33001864|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:24700674|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28464862|PMID:28492532|PMID:32979048|PMID:36371792
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33001864|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33001864|PMID:9536098
1310233	Ap4m1	adaptor related protein complex 4 subunit mu 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1310234	Kbtbd4	kelch repeat and BTB domain containing 4	gene	DOID:0080706	medulloblastoma non-WNT/non-SHH		ISO	RGD:1321017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH	PMID:27993330|PMID:28726821|PMID:33172502|PMID:35379950|PMID:35489737
1310234	Kbtbd4	kelch repeat and BTB domain containing 4	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1321017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:27993330|PMID:28726821|PMID:33172502|PMID:35379950|PMID:35489737
1310234	Kbtbd4	kelch repeat and BTB domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321017	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310234	Kbtbd4	kelch repeat and BTB domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310234	Kbtbd4	kelch repeat and BTB domain containing 4	gene	DOID:5030	pineal parenchymal tumor of intermediate differentiation		ISO	RGD:1321017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pineal parenchymal tumor of intermediate differentiation	PMID:27993330|PMID:28726821|PMID:30877433|PMID:31768671|PMID:31820118|PMID:33172502|PMID:33619588|PMID:35000018|PMID:35379950
1310234	Kbtbd4	kelch repeat and BTB domain containing 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1321017	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310234	Kbtbd4	kelch repeat and BTB domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310236	Prkd3	protein kinase D3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310236	Prkd3	protein kinase D3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310236	Prkd3	protein kinase D3	gene	DOID:2394	ovarian cancer		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310236	Prkd3	protein kinase D3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310236	Prkd3	protein kinase D3	gene	DOID:4362	cervical cancer		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310236	Prkd3	protein kinase D3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310236	Prkd3	protein kinase D3	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310236	Prkd3	protein kinase D3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310236	Prkd3	protein kinase D3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310236	Prkd3	protein kinase D3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310236	Prkd3	protein kinase D3	gene	DOID:9004657	Weight Gain		ISO	RGD:1353868	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1310236	Prkd3	protein kinase D3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310236	Prkd3	protein kinase D3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310236	Prkd3	protein kinase D3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353868	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310237	Dnajc18	DnaJ heat shock protein family (Hsp40) member C18	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310237	Dnajc18	DnaJ heat shock protein family (Hsp40) member C18	gene	DOID:3275	thymoma		ISO	RGD:1602641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310237	Dnajc18	DnaJ heat shock protein family (Hsp40) member C18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310237	Dnajc18	DnaJ heat shock protein family (Hsp40) member C18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310238	Man2a2	mannosidase, alpha, class 2A, member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310238	Man2a2	mannosidase, alpha, class 2A, member 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1321024	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
1310238	Man2a2	mannosidase, alpha, class 2A, member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310238	Man2a2	mannosidase, alpha, class 2A, member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310238	Man2a2	mannosidase, alpha, class 2A, member 2	gene	DOID:1115	sarcoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310238	Man2a2	mannosidase, alpha, class 2A, member 2	gene	DOID:1909	melanoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310238	Man2a2	mannosidase, alpha, class 2A, member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310238	Man2a2	mannosidase, alpha, class 2A, member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310238	Man2a2	mannosidase, alpha, class 2A, member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321024	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310238	Man2a2	mannosidase, alpha, class 2A, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310238	Man2a2	mannosidase, alpha, class 2A, member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1310238	Man2a2	mannosidase, alpha, class 2A, member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:0050864	non-arteritic anterior ischemic optic neuropathy		ISO	RGD:1321026	D	RGD:7240710	20260812	OMIM			
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:0050864	non-arteritic anterior ischemic optic neuropathy		ISO	RGD:1321026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonarteritic anterior ischemic optic neuropathy, susceptibility to | ClinVar Annotator: match by term: OPTIC NEUROPATHY, ANTERIOR ISCHEMIC, SUSCEPTIBILITY TO	PMID:10089893|PMID:11054083|PMID:12038791|PMID:18492106|PMID:24934643|PMID:25741868|PMID:27479822|PMID:28492532|PMID:34237177|PMID:9326229|PMID:9326230
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:0060903	thrombosis		ISO	RGD:1321026	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17334511
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:0081250	CIC-rearranged sarcoma		ISO	RGD:1321026	D	RGD:8554872	20200225	ClinVar		ClinVar Annotator: match by term: CIC-DUX Sarcoma	PMID:25741868|PMID:28492532
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:0111056	platelet-type bleeding disorder 3		ISO	RGD:1321026	D	RGD:10450803|PMID:15705799	20160121	RGD		DNA:deletion	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:0111056	platelet-type bleeding disorder 3		ISO	RGD:1321026	D	RGD:10450814|PMID:7833477	20160121	RGD		DNA:missense mutation: :p.V239M (human)	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:0111056	platelet-type bleeding disorder 3		ISO	RGD:1321026	D	RGD:10450823|PMID:2052556	20160121	RGD		DNA:missense mutation: :p.G233V (human)	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:0111056	platelet-type bleeding disorder 3		ISO	RGD:1321026	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:0111056	platelet-type bleeding disorder 3		ISO	RGD:1321026	D	RGD:7240710	20260812	OMIM			
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:0111056	platelet-type bleeding disorder 3		ISO	RGD:1321026	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Platelet-type von Willebrand disease | ClinVar Annotator: match by term: Pseudo von Willebrand disease | ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, PLATELET-TYPE	PMID:10089893|PMID:11054083|PMID:12038791|PMID:18492106|PMID:24934643|PMID:25741868|PMID:27479822|PMID:28492532|PMID:34237177|PMID:34355501|PMID:34619770|PMID:37592722|PMID:9326229|PMID:9326230
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:0111059	Bernard-Soulier syndrome type A2		ISO	RGD:1321026	D	RGD:7240710	20260812	OMIM			
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:0111059	Bernard-Soulier syndrome type A2		ISO	RGD:1321026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant	PMID:10089893|PMID:11054083|PMID:11776304|PMID:12038791|PMID:1730088|PMID:18492106|PMID:21173099|PMID:24934643|PMID:25741868|PMID:27479822|PMID:28492532|PMID:28983057|PMID:30908598|PMID:31064749|PMID:33732333|PMID:34237177|PMID:34355501|PMID:36173017|PMID:36507135|PMID:37592722|PMID:7819107|PMID:7855797|PMID:9326229|PMID:9326230
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:10763	hypertension		ISO	RGD:1321026	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22352330
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:11713	diabetic angiopathy		ISO	RGD:1321026	D	RGD:7242686|PMID:21411989	20130416	RGD			
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1321026	D	RGD:7242688|PMID:12185480	20130416	RGD		protein: reduced expression: :	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:1588	thrombocytopenia		ISO	RGD:1321026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:10089893|PMID:11054083|PMID:14521605|PMID:17264965|PMID:24934643|PMID:25741868|PMID:27479822|PMID:28492532|PMID:31064749|PMID:34237177|PMID:37592722|PMID:9326229|PMID:9326230
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:1588	thrombocytopenia		ISO	RGD:1321027	D	RGD:10450849|PMID:11001906	20160122	RGD			
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:1725	peritoneum cancer	sexual_dimorphism	ISO	RGD:1321026	D	RGD:42722625|PMID:32724431	20210308	RGD		associated with stomach cancer;protein:altered expression:peritoneum (human)	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1321026	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:27479822|PMID:34237177
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1321026	D	RGD:10450796|PMID:23995613	20160121	RGD		DNA:missense mutation: :p.V262G (c.785T>G) (human)	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1321026	D	RGD:10450798|PMID:21173099	20160121	RGD		DNA:missense mutation: :p.N126D (c.376A>G) (human)	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1321026	D	RGD:10450809|PMID:10996832	20160121	RGD		DNA:missense mutation: :p.L129P (human)	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1321026	D	RGD:10450819|PMID:10089893	20160121	RGD		DNA:missense mutation, deletion: :p.L129P, 4630_4631del (human)	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1321026	D	RGD:10450834|PMID:19404517	20160121	RGD		DNA:missense mutation: :p.N45S (1829A>G) (human)	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1321026	D	RGD:10450843|PMID:11776304	20160121	RGD		DNA:missense mutation, nonsense mutation: :p.C209S (715T>A) (human)	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1321026	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1321026	D	RGD:7240710	20260812	OMIM			
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1321026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Platelet Glycoprotein 1b, Deficiency of	PMID:10089893|PMID:11054083|PMID:11776304|PMID:12038791|PMID:17083647|PMID:18492106|PMID:21173099|PMID:21993687|PMID:24934643|PMID:25370924|PMID:25741868|PMID:26133172|PMID:27479822|PMID:28492532|PMID:28983057|PMID:34237177|PMID:34355501|PMID:7819107|PMID:7855797|PMID:9326229|PMID:9326230|PMID:9639514
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:2217	Bernard-Soulier syndrome		ISS	RGD:1321027	D	RGD:13592920	20230718	MouseDO		OMIM:231200	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:2217	Bernard-Soulier syndrome	treatment	ISO	RGD:1321026	D	RGD:10450833|PMID:22044935	20160121	RGD			
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:2316	brain ischemia	exacerbates	ISO	RGD:1321027	D	RGD:42722626|PMID:24644058	20210308	RGD		associated with Pneumococcal Infections	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:1321026	D	RGD:42722628|PMID:31851564	20210308	RGD			
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:557	kidney disease		ISO	RGD:1321026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal disease	PMID:18065693|PMID:25370924|PMID:25741868|PMID:30349881|PMID:32757236
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:5844	myocardial infarction		ISO	RGD:1321026	D	RGD:1580432|PMID:15269835	19990101	RGD			
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:1321026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15319289|PMID:25741868|PMID:28492532|PMID:36519321
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:784	chronic kidney disease	exacerbates	ISO	RGD:1321026	D	RGD:42722629|PMID:11314805	20210308	RGD			
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:8283	peritonitis	exacerbates	ISO	RGD:1321027	D	RGD:42722627|PMID:20716766	20210308	RGD			
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:874	bacterial pneumonia	exacerbates	ISO	RGD:1321027	D	RGD:42722624|PMID:27845343	20210308	RGD		associated with Escherichia Coli Infections	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1321027	D	RGD:10450841|PMID:16861348	20160121	RGD			
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:9000528	Coronary Disease		ISO	RGD:1321026	D	RGD:1580433|PMID:14592833	19990101	RGD			
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1321027	D	RGD:10450866|PMID:19727118	20160122	RGD		associated with Melanoma, Experimental	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:9001249	Bernard-Soulier Syndrome Type A1		ISO	RGD:1321026	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BERNARD-SOULIER SYNDROME, TYPE A1 | ClinVar Annotator: match by term: Bernard-Soulier Syndrome Type A1 | ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1	PMID:11776304|PMID:21173099|PMID:25741868|PMID:28492532|PMID:28983057|PMID:34355501|PMID:7819107|PMID:7855797
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:9002406	Bernard-Soulier Syndrome, Autosomal Dominant		ISO	RGD:1321026	D	RGD:10450832|PMID:11222377	20160121	RGD		DNA:missense mutation: :p.A156V (515C>T) (human)	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:9002406	Bernard-Soulier Syndrome, Autosomal Dominant		ISO	RGD:1321026	D	RGD:10450842|PMID:18815197	20160121	RGD		DNA:missense mutation: :p.N41H (169A>C) (human)	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:9002522	Embolism	susceptibility	ISO	RGD:1321026	D	RGD:42722623|PMID:23611001	20210308	RGD		associated with infective endocarditis;DNA:repeat:CDS:(human)	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:9003168	Diarrhea prodrome + Hemolytic-Uremic Syndrome		ISO	RGD:1321026	D	RGD:42722620|PMID:29216383	20210308	RGD		associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human)	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:9004484	Sepsis	exacerbates	ISO	RGD:1321027	D	RGD:42722621|PMID:24150174	20210308	RGD		associated with thrombocytopenia	
1310239	Gp1ba	glycoprotein Ib platelet subunit alpha	gene	DOID:9008217	Hemorrhage		ISO	RGD:1321026	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bleeding	PMID:25741868
1310240	Mettl2a	methyltransferase 2A, tRNA N3-cytidine	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310240	Mettl2a	methyltransferase 2A, tRNA N3-cytidine	gene	DOID:1909	melanoma		ISO	RGD:1601800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310240	Mettl2a	methyltransferase 2A, tRNA N3-cytidine	gene	DOID:3275	thymoma		ISO	RGD:1601800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310240	Mettl2a	methyltransferase 2A, tRNA N3-cytidine	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310240	Mettl2a	methyltransferase 2A, tRNA N3-cytidine	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310240	Mettl2a	methyltransferase 2A, tRNA N3-cytidine	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310240	Mettl2a	methyltransferase 2A, tRNA N3-cytidine	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310242	Arsi	arylsulfatase family, member I	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1604953	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1310242	Arsi	arylsulfatase family, member I	gene	DOID:12365	malaria		ISO	RGD:1604953	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malaria, susceptibility to	
1310242	Arsi	arylsulfatase family, member I	gene	DOID:1909	melanoma		ISO	RGD:1604953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310242	Arsi	arylsulfatase family, member I	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1604953	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:28492532|PMID:28832565
1310242	Arsi	arylsulfatase family, member I	gene	DOID:607	paraplegia		ISO	RGD:1604953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868|PMID:28492532|PMID:34983064
1310243	Tbc1d21	TBC1 domain family, member 21	gene	DOID:9256	colorectal cancer		ISO	RGD:1353455	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:28492532
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:0060500	drug allergy		ISO	RGD:1321033	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14616128
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:1205	allergic disease		ISO	RGD:1321033	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:4891483|PMID:18712274	20110117	RGD		DNA:SNPs: :304C>A, 1272A>G (human)	
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:4891484|PMID:17548626	20110117	RGD			
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:4891496|PMID:12952266	20110118	RGD		protein:increased expression:respiratory system fluid/secretion	
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:5130930|PMID:16304252	20110414	RGD		protein:increased expression:plasma	
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:5130932|PMID:12761043	20110414	RGD		DNA:SNP: :1265A>G (human)	
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321034	D	RGD:4891485|PMID:17060636	20110117	RGD			
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1321033	D	RGD:4891495|PMID:15207712	20110118	RGD		DNA:SNPs: :179T>C, 275C>T (human)	
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:3310	atopic dermatitis		ISO	RGD:1321033	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:4483	rhinitis		ISO	RGD:1321033	D	RGD:4145109|PMID:17982926	20110118	RGD		mRNA:increased expression:nasal cavity epithelium	
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:4483	rhinitis		ISO	RGD:1321033	D	RGD:4891493|PMID:15580493	20110414	RGD		DNA:SNPs: :179T>C, 275C>T (human)	
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:552	pneumonia		ISO	RGD:1321033	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:8544	chronic fatigue syndrome		ISO	RGD:1321033	D	RGD:11538286|PMID:26615570	20191112	RGD		protein:increased expression:plasma:	
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:9001371	Eosinophilia		ISO	RGD:1321033	D	RGD:4891487|PMID:19296494	20110117	RGD		associated with Sinusitis	
1310245	Ccl24	C-C motif chemokine ligand 24	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1321033	D	RGD:4145448|PMID:10415058	20101104	RGD		mRNA:increased expression:nasal cavity epithelium	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1321035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:1115	sarcoma		ISO	RGD:1321035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:11714	gestational diabetes		ISO	RGD:1321035	D	RGD:2313946|PMID:19002430	20091102	RGD		DNA:snp: :rs7756992,rs7754840(human)	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:1324	lung cancer		ISO	RGD:1321035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:13677	SAPHO syndrome		ISO	RGD:1321035	D	RGD:11554173	20190312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27936930
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1321035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1321035	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:8947	diabetic retinopathy	disease_progression	ISO	RGD:1321035	D	RGD:401850599|PMID:28821857	20231024	RGD		DNA:SNP:intron: (rs7756992) (human)	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:9003996	Birth Weight		ISO	RGD:1321035	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23202124
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:9007633	Body Weight		ISO	RGD:1321035	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22344219|PMID:22344221
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:9351	diabetes mellitus		ISO	RGD:1321035	D	RGD:2313940|PMID:19741467	20091102	RGD		DNA:snp: :rs10946398(human)	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1321035	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17460697|PMID:23104008|PMID:23202124
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1321035	D	RGD:2313941|PMID:19401414	20091102	RGD			
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1321035	D	RGD:2313947|PMID:18991055	20091102	RGD		DNA:snp: :rs7754840(human)	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1321035	D	RGD:2313949|PMID:18633108	20091102	RGD		DNA:snps: :multiple	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:9352	type 2 diabetes mellitus		ISS	RGD:1321036	D	RGD:13592920	20230718	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
1310246	Cdkal1	CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase	gene	DOID:9970	obesity		ISO	RGD:1321035	D	RGD:8554872	20200310	ClinVar		ClinVar Annotator: match by term: Obesity	
1310247	Stk35	serine/threonine kinase 35	gene	DOID:1324	lung cancer		ISO	RGD:1321037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310247	Stk35	serine/threonine kinase 35	gene	DOID:3275	thymoma		ISO	RGD:1321037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310247	Stk35	serine/threonine kinase 35	gene	DOID:4362	cervical cancer		ISO	RGD:1321037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310247	Stk35	serine/threonine kinase 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310247	Stk35	serine/threonine kinase 35	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310247	Stk35	serine/threonine kinase 35	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310250	Nup210l	nucleoporin 210-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310250	Nup210l	nucleoporin 210-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310250	Nup210l	nucleoporin 210-like	gene	DOID:0070726	spermatogenic failure 97		ISO	RGD:1344758	D	RGD:7240710	20250108	OMIM			
1310250	Nup210l	nucleoporin 210-like	gene	DOID:0070726	spermatogenic failure 97		ISO	RGD:1344758	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 97	PMID:25741868
1310250	Nup210l	nucleoporin 210-like	gene	DOID:10534	stomach cancer		ISO	RGD:1344758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310250	Nup210l	nucleoporin 210-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310250	Nup210l	nucleoporin 210-like	gene	DOID:1324	lung cancer		ISO	RGD:1344758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310250	Nup210l	nucleoporin 210-like	gene	DOID:1909	melanoma		ISO	RGD:1344758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310250	Nup210l	nucleoporin 210-like	gene	DOID:3275	thymoma		ISO	RGD:1344758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310250	Nup210l	nucleoporin 210-like	gene	DOID:4362	cervical cancer		ISO	RGD:1344758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310250	Nup210l	nucleoporin 210-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310250	Nup210l	nucleoporin 210-like	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310250	Nup210l	nucleoporin 210-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310250	Nup210l	nucleoporin 210-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1310250	Nup210l	nucleoporin 210-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310251	Mzb1	marginal zone B and B1 cell-specific protein	gene	DOID:0080600	COVID-19		ISO	RGD:1605681	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310251	Mzb1	marginal zone B and B1 cell-specific protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310252	Ano4	anoctamin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310252	Ano4	anoctamin 4	gene	DOID:0060170	generalized epilepsy with febrile seizures plus		ISO	RGD:1321043	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus	PMID:25741868
1310252	Ano4	anoctamin 4	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1321043	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868
1310252	Ano4	anoctamin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310252	Ano4	anoctamin 4	gene	DOID:1324	lung cancer		ISO	RGD:1321043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310252	Ano4	anoctamin 4	gene	DOID:289	endometriosis		ISO	RGD:1321043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1310252	Ano4	anoctamin 4	gene	DOID:303	substance-related disorder		ISO	RGD:1321043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1310252	Ano4	anoctamin 4	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1321043	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Temporal lobe epilepsy	
1310252	Ano4	anoctamin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1321043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310252	Ano4	anoctamin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310252	Ano4	anoctamin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310253	Cdc42ep2	CDC42 effector protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:0070304	multiple epiphyseal dysplasia 3		ISO	RGD:1321049	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:0070304	multiple epiphyseal dysplasia 3		ISO	RGD:1321049	D	RGD:7240710	20260812	OMIM			
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:0070304	multiple epiphyseal dysplasia 3		ISO	RGD:1321049	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with or without myopathy | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 3	PMID:10655510|PMID:10678658|PMID:15551337|PMID:16199547|PMID:17576681|PMID:20301302|PMID:24033266|PMID:24273071|PMID:25381065|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31090205|PMID:32483926|PMID:33633367|PMID:38166944|PMID:9536098
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:0080019	metaphyseal dysplasia		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metaphyseal dysplasia	PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:0080046	Stickler syndrome		ISO	RGD:1321049	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Stickler syndrome | ClinVar Annotator: match by term: Stickler syndrome | ClinVar Annotator: match by term: autosomal recessive Stickler syndrome	PMID:24273071|PMID:25741868|PMID:28492532|PMID:31090205|PMID:33570243
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:0112295	spondylometaphyseal dysplasia		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylometaphyseal dysplasia	PMID:25741868
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1321049	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:1115	sarcoma		ISO	RGD:1321049	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:11830	myopia		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:12165	retinal lattice degeneration		ISO	RGD:1321049	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lattice retinal degeneration	PMID:20301302|PMID:24273071|PMID:25741868|PMID:28492532|PMID:31090205|PMID:32483926|PMID:33633367
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:1324	lung cancer		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1321049	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:1909	melanoma		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:2030	anxiety disorder		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1321049	D	RGD:1600695|PMID:10090888	20070323	RGD		multiple epiphyseal dysplasia, OMIM:600969, DNA:splice-site mutation	
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321049	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:3087	gingivitis		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:3275	thymoma		ISO	RGD:1321049	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1321049	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321049	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:4997	Camurati-Engelmann disease		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diaphyseal dysplasia	PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1321049	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:5327	retinal detachment		ISO	RGD:1321049	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal detachment	PMID:20301302|PMID:24273071|PMID:25741868|PMID:28492532|PMID:31090205|PMID:32483926|PMID:33633367
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321049	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:6039	uveal melanoma		ISO	RGD:1321049	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:630	genetic disease		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24273071|PMID:25741868|PMID:28492532|PMID:31090205|PMID:38166944
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:65	connective tissue disease		ISO	RGD:1321049	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:11565064|PMID:15917166|PMID:20301302|PMID:22343411|PMID:24033266|PMID:24273071|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28507545|PMID:30467950|PMID:31090205|PMID:32483926|PMID:33633367
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9000343	Vision Disorders		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:1321049	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:1321049	D	RGD:7240710	20260812	OMIM			
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTERVERTEBRAL DISC DISEASE | ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to	PMID:25741868|PMID:26467025|PMID:28492532|PMID:38166944
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9000819	Stickler Syndrome, Type VI		ISO	RGD:1321049	D	RGD:7240710	20260812	OMIM			
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9000819	Stickler Syndrome, Type VI		ISO	RGD:1321049	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STICKLER SYNDROME, TYPE VI | ClinVar Annotator: match by term: Stickler syndrome, type VI	PMID:24273071|PMID:25741868|PMID:28492532|PMID:31090205|PMID:33570243|PMID:35241111|PMID:38166944
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9001733	Tinnitus		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9003507	Premature Birth		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321049	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532|PMID:30311386
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321049	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9006876	Autoinflammation, Immune Dysregulation, and Eosinophilia		ISO	RGD:12254343	D	RGD:9068941	20250501	OMIA		Oculoskeletal dysplasia 1	PMID:11024291|PMID:11814684|PMID:1525714|PMID:20686772|PMID:22065099|PMID:31415586|PMID:31595625|PMID:31746146|PMID:3204050|PMID:38334230|PMID:830631
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:28492532
1310255	Col9a3	collagen type IX alpha 3 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1321049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0060058	lymphoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISO	RGD:1321051	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	PMID:25741868|PMID:28492532
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0060540	Hermansky-Pudlak syndrome 2		ISO	RGD:1321051	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0060540	Hermansky-Pudlak syndrome 2		ISO	RGD:1321051	D	RGD:7240710	20130221	OMIM			
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0060540	Hermansky-Pudlak syndrome 2		ISO	RGD:1321051	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HERMANSKY-PUDLAK SYNDROME 2 | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 | ClinVar Annotator: match by term: Platelet defects and oculocutaneous albinism	PMID:11809908|PMID:14566336|PMID:16199547|PMID:16507770|PMID:16537806|PMID:17576681|PMID:23403622|PMID:24033266|PMID:25741868|PMID:25980904|PMID:27781387|PMID:28132693|PMID:28492532|PMID:31898847|PMID:32935436|PMID:33217554|PMID:33718801|PMID:9536098
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0060540	Hermansky-Pudlak syndrome 2		ISS	RGD:1321052	D	RGD:13592920	20230718	MouseDO		OMIM:608233	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868|PMID:28492532
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:10283	prostate cancer		ISO	RGD:1321051	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:28492532
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:10283	prostate cancer		ISO	RGD:1321051	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:28492532
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1059	intellectual disability		ISO	RGD:1321051	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1115	sarcoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1227	neutropenia		ISO	RGD:1321051	D	RGD:1578409|PMID:12125811	19990101	RGD			
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:12450	pancytopenia		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:25741868
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1324	lung cancer		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1321051	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532|PMID:32935436
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1909	melanoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1321051	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:28492532|PMID:32935436
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:2223	platelet storage pool deficiency		ISS	RGD:1321052	D	RGD:13592920	20180518	MouseDO		OMIM:185050	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1321051	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3082	interstitial lung disease		ISO	RGD:1321051	D	RGD:11096518|PMID:22009278	20160607	RGD		associated with Hermansky-Pudlak Syndrome 2;DNA:snps, missense mutation, nonsense mutations:exons, introns:multiple (human)	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1321051	D	RGD:1578409|PMID:12125811	19990101	RGD			
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome	PMID:16507770|PMID:23403622|PMID:25741868|PMID:28492532|PMID:31898847
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1321052	D	RGD:11087576|PMID:11861280	20160606	RGD			
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1321052	D	RGD:11087577|PMID:11056055	20160606	RGD		DNA:duplication, deletions:introns, exons: (mouse)	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1321051	D	RGD:1578409|PMID:12125811	19990101	RGD			
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:5339	cyclic hematopoiesis		ISO	RGD:12137585	D	RGD:9068941	20230921	OMIA		Neutropenia, cyclic	PMID:1013155|PMID:1167851|PMID:1251140|PMID:1259228|PMID:12750178|PMID:127610|PMID:12897784|PMID:1379221|PMID:15059607|PMID:15576359|PMID:16610934|PMID:1699776|PMID:17053055|PMID:173440|PMID:1893969|PMID:18951469|PMID:19208418|PMID:19941936|PMID:2172633|PMID:22285163|PMID:22845776|PMID:2458781|PMID:2830927|PMID:2945680|PMID:2979797|PMID:3026784|PMID:3181344|PMID:336117|PMID:347941|PMID:3491636|PMID:351627|PMID:35904319|PMID:3607647|PMID:37673175|PMID:3996494|PMID:4170467|PMID:438337|PMID:4430726|PMID:4587264|PMID:4591036|PMID:4612548|PMID:4703853|PMID:47249|PMID:4795953|PMID:4796766|PMID:4834515|PMID:5054471|PMID:5054472|PMID:5366324|PMID:5529685|PMID:5534257|PMID:5581910|PMID:568046|PMID:6067150|PMID:6096876|PMID:6506453|PMID:6759148|PMID:6803622|PMID:6837566|PMID:6846503|PMID:6853718|PMID:686147|PMID:6884440|PMID:6972315|PMID:6976196|PMID:7011123|PMID:7059519|PMID:7060078|PMID:7066210|PMID:710550|PMID:719169|PMID:7281477|PMID:7350939|PMID:738429|PMID:738763|PMID:7405719|PMID:7474871|PMID:7519075|PMID:7528575|PMID:8737267|PMID:955040|PMID:995965
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:630	genetic disease		ISO	RGD:1321051	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:718	autoimmune hemolytic anemia		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune hemolytic anemia	PMID:25741868|PMID:28492532
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune thrombocytopenia	PMID:25741868|PMID:28492532
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1310256	Ap3b1	adaptor related protein complex 3 subunit beta 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310257	Zswim9	zinc finger SWIM-type containing 9	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1602629	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1310258	E2f7	E2F transcription factor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1321054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310258	E2f7	E2F transcription factor 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310258	E2f7	E2F transcription factor 7	gene	DOID:1324	lung cancer		ISO	RGD:1321054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310258	E2f7	E2F transcription factor 7	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1321054	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29754146
1310258	E2f7	E2F transcription factor 7	gene	DOID:4362	cervical cancer		ISO	RGD:1321054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310258	E2f7	E2F transcription factor 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310258	E2f7	E2F transcription factor 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310258	E2f7	E2F transcription factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310258	E2f7	E2F transcription factor 7	gene	DOID:9000918	Disease Progression		ISO	RGD:1321054	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29754146
1310258	E2f7	E2F transcription factor 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310258	E2f7	E2F transcription factor 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310259	Ssna1	SS nuclear autoantigen 1	gene	DOID:1115	sarcoma		ISO	RGD:1321056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310259	Ssna1	SS nuclear autoantigen 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1321056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310259	Ssna1	SS nuclear autoantigen 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310260	Cimap1d	CIMAP1 family member D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310260	Cimap1d	CIMAP1 family member D	gene	DOID:1115	sarcoma		ISO	RGD:1321058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310260	Cimap1d	CIMAP1 family member D	gene	DOID:1909	melanoma		ISO	RGD:1321058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310260	Cimap1d	CIMAP1 family member D	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310260	Cimap1d	CIMAP1 family member D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310261	Nhlh1	nescient helix loop helix 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310261	Nhlh1	nescient helix loop helix 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310262	Misp3	MISP family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:11352787	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310262	Misp3	MISP family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:11352787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310263	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310263	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310263	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310263	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:1324	lung cancer		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310263	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:1909	melanoma		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310263	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:3275	thymoma		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310263	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1321062	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310263	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:5041	esophageal cancer		ISO	RGD:1321062	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310263	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310263	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310263	G2e3	G2/M-phase specific E3 ubiquitin protein ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:27270415|PMID:28492532|PMID:34296759
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:0080417	developmental and epileptic encephalopathy 38		ISO	RGD:1349198	D	RGD:7240710	20190315	OMIM			
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:0080417	developmental and epileptic encephalopathy 38		ISO	RGD:1349198	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARV1-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 38 | ClinVar Annotator: match by term: developmental and epileptic encephalopathy, 38	PMID:25741868|PMID:27270415|PMID:28492532|PMID:32165008|PMID:33084218|PMID:34296759|PMID:37804371
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:0081134	3-methylglutaconic aciduria type 7b		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB	PMID:25741868|PMID:27270415|PMID:28492532|PMID:34296759
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:10534	stomach cancer		ISO	RGD:1349198	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:10907	microcephaly		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27270415|PMID:28492532|PMID:34296759
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:11111	hydronephrosis		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:27270415|PMID:28492532|PMID:34296759
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:1826	epilepsy		ISO	RGD:1349198	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27270415|PMID:28492532|PMID:34296759
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:630	genetic disease		ISO	RGD:1349198	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349198	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27270415|PMID:28492532|PMID:34296759
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:27270415|PMID:28492532|PMID:34296759
1310264	Arv1	ARV1 fatty acid homeostasis modulator	gene	DOID:936	brain disease		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:0050567	orofacial cleft		ISS	RGD:1321068	D	RGD:13592920	20180518	MouseDO		OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892	
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:0050691	branchiooculofacial syndrome		ISO	RGD:1321067	D	RGD:7240710	20180725	OMIM			
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:0050691	branchiooculofacial syndrome		ISO	RGD:1321067	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRANCHIOOCULOFACIAL SYNDROME | ClinVar Annotator: match by term: Branchio-Oculo-Facial Syndrome | ClinVar Annotator: match by term: Branchiooculofacial syndrome | ClinVar Annotator: match by term: TFAP2A-related condition	PMID:21204207|PMID:21539471|PMID:21728810|PMID:22276601|PMID:22963965|PMID:23578821|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36549658|PMID:37409559|PMID:38459225
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:21204207|PMID:22276601|PMID:22963965|PMID:25741868|PMID:28492532|PMID:36549658
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:10376	amblyopia		ISO	RGD:1321067	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:10629	microphthalmia		ISO	RGD:1321067	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:11111	hydronephrosis		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:21204207|PMID:22276601|PMID:22963965|PMID:25741868|PMID:28492532|PMID:36549658
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:11364	lens subluxation		ISO	RGD:1321067	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Lens subluxation	PMID:25741868
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:12270	coloboma		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:21204207|PMID:22276601|PMID:22963965|PMID:25741868|PMID:28492532|PMID:36549658
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1321067	D	RGD:1578494|PMID:14752511	20110609	RGD		protein:increased expression:myocardium	
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:1321067	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19685247
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:2394	ovarian cancer		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1321067	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:540	strabismus		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:21204207|PMID:22276601|PMID:22963965|PMID:25741868|PMID:28492532|PMID:36549658
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:557	kidney disease		ISO	RGD:1321067	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19685247
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:630	genetic disease		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:20150232|PMID:21204207|PMID:21539471|PMID:21728810|PMID:22191992|PMID:22276601|PMID:22963965|PMID:23578821|PMID:25741868|PMID:28492532|PMID:36549658|PMID:8622766
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:674	cleft palate		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:21204207|PMID:22276601|PMID:22963965|PMID:25741868|PMID:28492532|PMID:36549658
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1321067	D	RGD:8554872	20221213	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:21204207|PMID:22276601|PMID:22963965|PMID:25741868|PMID:28492532|PMID:36549658
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321067	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:21204207|PMID:22276601|PMID:22963965|PMID:25741868|PMID:28492532|PMID:36549658
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1321067	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19685247
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1321067	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14534133|PMID:19685247
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1321067	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16204029
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1321067	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:9834	hyperopia		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:21204207|PMID:22276601|PMID:22963965|PMID:25741868|PMID:28492532|PMID:36549658
1310267	Tfap2a	transcription factor AP-2 alpha	gene	DOID:9840	esotropia		ISO	RGD:1321067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:21204207|PMID:22276601|PMID:22963965|PMID:25741868|PMID:28492532|PMID:36549658
1310268	Thap11	THAP domain containing 11	gene	DOID:0050715	methylmalonic aciduria and homocystinuria type cblC		ISS	RGD:1321070	D	RGD:13592920	20220210	MouseDO		OMIM:277400	
1310268	Thap11	THAP domain containing 11	gene	DOID:9009144	Methylmalonic Aciduria and Homocystinuria, cblL Type		ISO	RGD:1321069	D	RGD:7240710	20240925	OMIM			
1310268	Thap11	THAP domain containing 11	gene	DOID:9009177	Spinocerebellar Ataxia 51		ISO	RGD:1321069	D	RGD:7240710	20240925	OMIM			
1310270	Mettl25	methyltransferase like 25	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310270	Mettl25	methyltransferase like 25	gene	DOID:1324	lung cancer		ISO	RGD:1602087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310270	Mettl25	methyltransferase like 25	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310270	Mettl25	methyltransferase like 25	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310270	Mettl25	methyltransferase like 25	gene	DOID:4362	cervical cancer		ISO	RGD:1602087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310270	Mettl25	methyltransferase like 25	gene	DOID:5041	esophageal cancer		ISO	RGD:1602087	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310270	Mettl25	methyltransferase like 25	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310270	Mettl25	methyltransferase like 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310270	Mettl25	methyltransferase like 25	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310270	Mettl25	methyltransferase like 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310270	Mettl25	methyltransferase like 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310270	Mettl25	methyltransferase like 25	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:34906470
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:1115	sarcoma		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:1324	lung cancer		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:5723	optic atrophy		ISO	RGD:1353453	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:8501	fundus dystrophy		ISO	RGD:1353453	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353453	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310271	Samd11	sterile alpha motif domain containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1310272	Pkd2l2	polycystin 2 like 2, transient receptor potential cation channel	gene	DOID:10534	stomach cancer		ISO	RGD:1321074	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310272	Pkd2l2	polycystin 2 like 2, transient receptor potential cation channel	gene	DOID:1909	melanoma		ISO	RGD:1321074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310272	Pkd2l2	polycystin 2 like 2, transient receptor potential cation channel	gene	DOID:4362	cervical cancer		ISO	RGD:1321074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310272	Pkd2l2	polycystin 2 like 2, transient receptor potential cation channel	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310272	Pkd2l2	polycystin 2 like 2, transient receptor potential cation channel	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310272	Pkd2l2	polycystin 2 like 2, transient receptor potential cation channel	gene	DOID:9256	colorectal cancer		ISO	RGD:1321074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310274	Clk4	CDC-like kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310274	Clk4	CDC-like kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321078	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310274	Clk4	CDC-like kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310274	Clk4	CDC-like kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310274	Clk4	CDC-like kinase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310274	Clk4	CDC-like kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310274	Clk4	CDC-like kinase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310274	Clk4	CDC-like kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1321078	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310274	Clk4	CDC-like kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310274	Clk4	CDC-like kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:1909	melanoma		ISO	RGD:1321080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:1321080	D	RGD:11554173	20200317	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1321080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321080	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:865	vasculitis		ISO	RGD:1321080	D	RGD:11554173	20200317	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:9002514	Neointima		ISO	RGD:1321080	D	RGD:11554173	20200317	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:9004771	Vascular Remodeling		ISO	RGD:1321080	D	RGD:11554173	20200317	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:9006709	Primary Graft Dysfunction		ISO	RGD:1321080	D	RGD:11554173	20200317	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
1310275	Senp1	SUMO specific peptidase 1	gene	DOID:9744	type 1 diabetes mellitus		ISS	RGD:1321081	D	RGD:13592920	20180518	MouseDO		OMIM:222100	
1310276	Lipt1	lipoyltransferase 1	gene	DOID:3652	Leigh disease		ISO	RGD:405281105	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868
1310276	Lipt1	lipoyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310276	Lipt1	lipoyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310276	Lipt1	lipoyltransferase 1	gene	DOID:9008121	Lipoyltransferase 1 Deficiency		ISO	RGD:1321082	D	RGD:7240710	20200527	OMIM			
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:1115	sarcoma		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:1909	melanoma		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321083	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1321083	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310277	Nfx1	nuclear transcription factor, X-box binding 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16835865|PMID:20818383|PMID:25741868|PMID:28492532
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:0050710	3-methylcrotonyl-CoA carboxylase deficiency		ISO	RGD:1352586	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 3-MCC Deficiency | ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase deficiency | ClinVar Annotator: match by term: 3-methylcrotonylglycinuria | ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency	PMID:11181649|PMID:11406611|PMID:16010683|PMID:16835865|PMID:17576681|PMID:20818363|PMID:20818383|PMID:21071250|PMID:22642865|PMID:22658692|PMID:25381946|PMID:25741868|PMID:26764160|PMID:27601257|PMID:28492532|PMID:30626930|PMID:31847883|PMID:35281663|PMID:36822454|PMID:38146699|PMID:38256266|PMID:9536098
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:0060260	ptosis		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532|PMID:31847883|PMID:38256266
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:0080580	3-methylcrotonyl-CoA carboxylase 2 deficiency		ISO	RGD:1352586	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:0080580	3-methylcrotonyl-CoA carboxylase 2 deficiency		ISO	RGD:1352586	D	RGD:7240710	20130221	OMIM			
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:0080580	3-methylcrotonyl-CoA carboxylase 2 deficiency		ISO	RGD:1352586	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 3-methylcrotonyl CoA carboxylase 2 deficiency | ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency | ClinVar Annotator: match by term: MCCC2-related disorder | ClinVar Annotator: match by term: Methylcrotonylglycinuria type 2	PMID:11170888|PMID:11181649|PMID:11406611|PMID:14680978|PMID:15877210|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:17968484|PMID:19706617|PMID:20818363|PMID:20818383|PMID:21071250|PMID:22030835|PMID:22150417|PMID:22264772|PMID:22642865|PMID:22658692|PMID:24516753|PMID:25356967|PMID:25381946|PMID:25382614|PMID:25640679|PMID:25741868|PMID:26566957|PMID:26589311|PMID:26764160|PMID:27033733|PMID:27601257|PMID:28018443|PMID:28492532|PMID:29247206|PMID:29767664|PMID:30626930|PMID:30904546|PMID:31730530|PMID:31847883|PMID:31901042|PMID:32778825|PMID:33058845|PMID:33423264|PMID:34440436|PMID:35281663|PMID:36544340|PMID:36822454|PMID:38146699|PMID:38256266|PMID:38535124|PMID:38582244|PMID:39188588|PMID:7601257|PMID:9536098
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532|PMID:31847883|PMID:38256266
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:11830	myopia		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532|PMID:31847883|PMID:38256266
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:12176	goiter		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532|PMID:31847883|PMID:38256266
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:1924	hypogonadism		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:28492532|PMID:31847883|PMID:38256266
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1352586	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:28492532
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31847883|PMID:38256266
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1352586	D	RGD:2316864|PMID:11170888	20100302	RGD		DNA:missense mutations, frameshift mutations:multiple (human)	
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532|PMID:31847883|PMID:38256266
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532|PMID:31847883|PMID:38256266
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310279	Mccc2	methylcrotonyl-CoA carboxylase subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310281	C2cd2l	C2CD2-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310281	C2cd2l	C2CD2-like	gene	DOID:0080690	RASopathy		ISO	RGD:1321089	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:22742743|PMID:28492532
1310281	C2cd2l	C2CD2-like	gene	DOID:10534	stomach cancer		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310281	C2cd2l	C2CD2-like	gene	DOID:1115	sarcoma		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310281	C2cd2l	C2CD2-like	gene	DOID:1324	lung cancer		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310281	C2cd2l	C2CD2-like	gene	DOID:1909	melanoma		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310281	C2cd2l	C2CD2-like	gene	DOID:4362	cervical cancer		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310281	C2cd2l	C2CD2-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310281	C2cd2l	C2CD2-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310281	C2cd2l	C2CD2-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310281	C2cd2l	C2CD2-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310282	Ehf	ets homologous factor	gene	DOID:0050933	ovarian serous carcinoma	disease_progression	ISO	RGD:1321091	D	RGD:640479927|PMID:21855111	20260323	RGD			
1310282	Ehf	ets homologous factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310282	Ehf	ets homologous factor	gene	DOID:10534	stomach cancer		ISO	RGD:1321091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310282	Ehf	ets homologous factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310282	Ehf	ets homologous factor	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1321091	D	RGD:640479929|PMID:25648666	20260323	RGD		DNA:SNP:5'UTR:rs3901901	
1310282	Ehf	ets homologous factor	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:1321091	D	RGD:640480045|PMID:41320721	20260325	RGD			
1310282	Ehf	ets homologous factor	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1321091	D	RGD:640480045|PMID:41320721	20260325	RGD			
1310282	Ehf	ets homologous factor	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1321091	D	RGD:640480045|PMID:41320721	20260325	RGD			
1310282	Ehf	ets homologous factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310282	Ehf	ets homologous factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310282	Ehf	ets homologous factor	gene	DOID:7693	abdominal aortic aneurysm	treatment	IMP		D	RGD:1581123|PMID:14662712	20150323	RGD			
1310282	Ehf	ets homologous factor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321091	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1310282	Ehf	ets homologous factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310284	Zer1	zyg-11 related, cell cycle regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310284	Zer1	zyg-11 related, cell cycle regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310284	Zer1	zyg-11 related, cell cycle regulator	gene	DOID:0060058	lymphoma		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310284	Zer1	zyg-11 related, cell cycle regulator	gene	DOID:1324	lung cancer		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310284	Zer1	zyg-11 related, cell cycle regulator	gene	DOID:1909	melanoma		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310284	Zer1	zyg-11 related, cell cycle regulator	gene	DOID:3275	thymoma		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310284	Zer1	zyg-11 related, cell cycle regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1321095	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310284	Zer1	zyg-11 related, cell cycle regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310284	Zer1	zyg-11 related, cell cycle regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310284	Zer1	zyg-11 related, cell cycle regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310284	Zer1	zyg-11 related, cell cycle regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310284	Zer1	zyg-11 related, cell cycle regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310285	Adgrf1	adhesion G protein-coupled receptor F1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310285	Adgrf1	adhesion G protein-coupled receptor F1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310285	Adgrf1	adhesion G protein-coupled receptor F1	gene	DOID:1115	sarcoma		ISO	RGD:1321097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310285	Adgrf1	adhesion G protein-coupled receptor F1	gene	DOID:1324	lung cancer		ISO	RGD:1321097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310285	Adgrf1	adhesion G protein-coupled receptor F1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310285	Adgrf1	adhesion G protein-coupled receptor F1	gene	DOID:4362	cervical cancer		ISO	RGD:1321097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310285	Adgrf1	adhesion G protein-coupled receptor F1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321097	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310285	Adgrf1	adhesion G protein-coupled receptor F1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310285	Adgrf1	adhesion G protein-coupled receptor F1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310285	Adgrf1	adhesion G protein-coupled receptor F1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310285	Adgrf1	adhesion G protein-coupled receptor F1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1602120	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:26077881|PMID:26130459|PMID:28492532
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:0110085	asphyxiating thoracic dystrophy 1		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly	PMID:26077881|PMID:26130459|PMID:28492532
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1602120	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: short-rib polydactyly syndrome type II	
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:1115	sarcoma		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:1148	polydactyly		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:26077881|PMID:26130459|PMID:28492532
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:1324	lung cancer		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:1909	melanoma		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:3070	high grade glioma		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:630	genetic disease		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:9004314	Short-Rib Thoracic Dysplasia 15 with Polydactyly		ISO	RGD:1602120	D	RGD:7240710	20190315	OMIM			
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:9004314	Short-Rib Thoracic Dysplasia 15 with Polydactyly		ISO	RGD:1602120	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYNC2LI1-related condition | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly	PMID:17576681|PMID:25741868|PMID:26077881|PMID:26130459|PMID:28492532|PMID:28857138|PMID:32815859|PMID:34997029|PMID:9536098
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310286	Dync2li1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310287	Zbtb43	zinc finger and BTB domain containing 43	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310287	Zbtb43	zinc finger and BTB domain containing 43	gene	DOID:0080600	COVID-19		ISO	RGD:1321100	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310287	Zbtb43	zinc finger and BTB domain containing 43	gene	DOID:4362	cervical cancer		ISO	RGD:1321100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310287	Zbtb43	zinc finger and BTB domain containing 43	gene	DOID:5041	esophageal cancer		ISO	RGD:1321100	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310287	Zbtb43	zinc finger and BTB domain containing 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310287	Zbtb43	zinc finger and BTB domain containing 43	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310287	Zbtb43	zinc finger and BTB domain containing 43	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310287	Zbtb43	zinc finger and BTB domain containing 43	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310289	Psd4	pleckstrin and Sec7 domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310289	Psd4	pleckstrin and Sec7 domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310289	Psd4	pleckstrin and Sec7 domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1321104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310289	Psd4	pleckstrin and Sec7 domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1321104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310289	Psd4	pleckstrin and Sec7 domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1321104	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310289	Psd4	pleckstrin and Sec7 domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310289	Psd4	pleckstrin and Sec7 domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310289	Psd4	pleckstrin and Sec7 domain containing 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310289	Psd4	pleckstrin and Sec7 domain containing 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310289	Psd4	pleckstrin and Sec7 domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310291	Snx2	sorting nexin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310291	Snx2	sorting nexin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310291	Snx2	sorting nexin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310291	Snx2	sorting nexin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310291	Snx2	sorting nexin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321108	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310291	Snx2	sorting nexin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310291	Snx2	sorting nexin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310291	Snx2	sorting nexin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310291	Snx2	sorting nexin 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310291	Snx2	sorting nexin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310291	Snx2	sorting nexin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1310291	Snx2	sorting nexin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310291	Snx2	sorting nexin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310292	Bicdl1	BICD family like cargo adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310292	Bicdl1	BICD family like cargo adaptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1603186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310292	Bicdl1	BICD family like cargo adaptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1603186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310292	Bicdl1	BICD family like cargo adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310292	Bicdl1	BICD family like cargo adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:1115	sarcoma		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:1324	lung cancer		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1321111	D	RGD:2314971|PMID:19904269	20091210	RGD			
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:1909	melanoma		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1321111	D	RGD:2298984|PMID:14751175	20091210	RGD		mRNA:increased expression:endometrium	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:4971	myelofibrosis		ISS	RGD:1321112	D	RGD:13592920	20180518	MouseDO		OMIM:254450	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:8398	osteoarthritis	susceptibility	ISO	RGD:1321111	D	RGD:1625347|PMID:15334463	20070604	RGD			
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1321111	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321111	D	RGD:8693397|PMID:23759327	20140715	RGD			
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1310293	Ncor2	nuclear receptor co-repressor 2	gene	DOID:9538	multiple myeloma		ISO	RGD:1321111	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1310294	Perp	p53 apoptosis effector related to PMP22	gene	DOID:5041	esophageal cancer		ISO	RGD:1321113	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310294	Perp	p53 apoptosis effector related to PMP22	gene	DOID:630	genetic disease		ISO	RGD:1321113	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310294	Perp	p53 apoptosis effector related to PMP22	gene	DOID:9000198	Erythrokeratodermia Variabilis et Progressiva 7		ISO	RGD:1321113	D	RGD:7240710	20210303	OMIM			
1310294	Perp	p53 apoptosis effector related to PMP22	gene	DOID:9000198	Erythrokeratodermia Variabilis et Progressiva 7		ISO	RGD:1321113	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 7 | ClinVar Annotator: match by term: PERP-related condition	
1310294	Perp	p53 apoptosis effector related to PMP22	gene	DOID:9008575	Olmsted Syndrome 2		ISO	RGD:1321113	D	RGD:7240710	20210303	OMIM			
1310294	Perp	p53 apoptosis effector related to PMP22	gene	DOID:9008575	Olmsted Syndrome 2		ISO	RGD:1321113	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OLMSTED SYNDROME 2	
1310295	Gypc	glycophorin C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310295	Gypc	glycophorin C	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1321115	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1310295	Gypc	glycophorin C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310295	Gypc	glycophorin C	gene	DOID:12365	malaria		ISO	RGD:1321115	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310295	Gypc	glycophorin C	gene	DOID:12365	malaria		ISO	RGD:1321115	D	RGD:7240710	20230505	OMIM			
1310295	Gypc	glycophorin C	gene	DOID:12365	malaria		ISO	RGD:1321115	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GYPC-related condition | ClinVar Annotator: match by term: Malaria, resistance to	PMID:25741868|PMID:28492532
1310295	Gypc	glycophorin C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310295	Gypc	glycophorin C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321115	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310296	Med6	mediator complex subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310296	Med6	mediator complex subunit 6	gene	DOID:1115	sarcoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310296	Med6	mediator complex subunit 6	gene	DOID:1324	lung cancer		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310296	Med6	mediator complex subunit 6	gene	DOID:3070	high grade glioma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310296	Med6	mediator complex subunit 6	gene	DOID:3275	thymoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310296	Med6	mediator complex subunit 6	gene	DOID:4362	cervical cancer		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310296	Med6	mediator complex subunit 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310296	Med6	mediator complex subunit 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310296	Med6	mediator complex subunit 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310296	Med6	mediator complex subunit 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310297	Ube2o	ubiquitin-conjugating enzyme E2O	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310297	Ube2o	ubiquitin-conjugating enzyme E2O	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310297	Ube2o	ubiquitin-conjugating enzyme E2O	gene	DOID:1115	sarcoma		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310297	Ube2o	ubiquitin-conjugating enzyme E2O	gene	DOID:1909	melanoma		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310297	Ube2o	ubiquitin-conjugating enzyme E2O	gene	DOID:4362	cervical cancer		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310297	Ube2o	ubiquitin-conjugating enzyme E2O	gene	DOID:5041	esophageal cancer		ISO	RGD:1606786	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310297	Ube2o	ubiquitin-conjugating enzyme E2O	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310297	Ube2o	ubiquitin-conjugating enzyme E2O	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310297	Ube2o	ubiquitin-conjugating enzyme E2O	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310297	Ube2o	ubiquitin-conjugating enzyme E2O	gene	DOID:9256	colorectal cancer		ISO	RGD:1606786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310298	Hoxb1	homeo box B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310298	Hoxb1	homeo box B1	gene	DOID:1059	intellectual disability		ISO	RGD:1321119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1310298	Hoxb1	homeo box B1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1310298	Hoxb1	homeo box B1	gene	DOID:630	genetic disease		ISO	RGD:1321119	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310298	Hoxb1	homeo box B1	gene	DOID:9001799	Hereditary Congenital Facial Paresis		ISO	RGD:1321119	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24239177
1310298	Hoxb1	homeo box B1	gene	DOID:9004319	Ventricular Outflow Obstruction		ISO	RGD:1321120	D	RGD:11052805|PMID:26284287	20230628	RGD			
1310298	Hoxb1	homeo box B1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321119	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10529420
1310298	Hoxb1	homeo box B1	gene	DOID:9008662	Hereditary Congenital Facial Paresis 3		ISO	RGD:1321119	D	RGD:7240710	20140911	OMIM			
1310298	Hoxb1	homeo box B1	gene	DOID:9008662	Hereditary Congenital Facial Paresis 3		ISO	RGD:1321119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 | ClinVar Annotator: match by term: HOXB1-related condition	PMID:25741868|PMID:26467025|PMID:28492532
1310298	Hoxb1	homeo box B1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1321119	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10529420
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:10652	Alzheimer's disease		ISS	RGD:1321122	D	RGD:13592920	20180518	MouseDO		OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907	
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:10763	hypertension		ISO	RGD:1321122	D	RGD:8693428|PMID:21810655	20140715	RGD			
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:12466	secondary hyperparathyroidism		IDA		D	RGD:8693427|PMID:19770516	20140715	RGD		associated with Kidney Failure, Chronic	
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:1909	melanoma		ISO	RGD:1321121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:2841	asthma		IMP		D	RGD:8693422|PMID:18188456	20140715	RGD			
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1321121	D	RGD:11554173	20201012	CTD		CTD Direct Evidence: marker/mechanism	PMID:32621833
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:9002514	Neointima		ISO	RGD:1321122	D	RGD:8693429|PMID:20307651	20140715	RGD			
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1321122	D	RGD:8693424|PMID:23487407	20140715	RGD			
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:9004283	Transplant Rejection		IMP		D	RGD:8693431|PMID:17311089	20140715	RGD			
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:9005233	Experimental Mammary Neoplasms		IEP		D	RGD:8693420|PMID:22064478	20140715	RGD			
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310299	Pin1	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1321121	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:19671742|PMID:19681904|PMID:32621833
1310301	Cops5	COP9 signalosome subunit 5	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1321125	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
1310301	Cops5	COP9 signalosome subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310301	Cops5	COP9 signalosome subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310301	Cops5	COP9 signalosome subunit 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310301	Cops5	COP9 signalosome subunit 5	gene	DOID:3275	thymoma		ISO	RGD:1321125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310301	Cops5	COP9 signalosome subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310301	Cops5	COP9 signalosome subunit 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310301	Cops5	COP9 signalosome subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321125	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20698225
1310301	Cops5	COP9 signalosome subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310301	Cops5	COP9 signalosome subunit 5	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1321125	D	RGD:11354707|PMID:26606000	20220705	RGD		protein:increased expression:liver (human)	
1310301	Cops5	COP9 signalosome subunit 5	gene	DOID:9001586	Experimental Liver Neoplasms		IEP		D	RGD:11354707|PMID:26606000	20220705	RGD		protein:increased expression:liver (rat)	
1310301	Cops5	COP9 signalosome subunit 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310301	Cops5	COP9 signalosome subunit 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:1115	sarcoma		ISO	RGD:1321130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:4362	cervical cancer		ISO	RGD:1321130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:5041	esophageal cancer		ISO	RGD:1321130	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:6039	uveal melanoma		ISO	RGD:1321130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310304	Fam120b	family with sequence similarity 120 member B	gene	DOID:9256	colorectal cancer		ISO	RGD:1321130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310305	Ubash3a	ubiquitin associated and SH3 domain containing, A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310305	Ubash3a	ubiquitin associated and SH3 domain containing, A	gene	DOID:10534	stomach cancer		ISO	RGD:1321132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310305	Ubash3a	ubiquitin associated and SH3 domain containing, A	gene	DOID:1115	sarcoma		ISO	RGD:1321132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310305	Ubash3a	ubiquitin associated and SH3 domain containing, A	gene	DOID:14268	sclerosing cholangitis		ISO	RGD:1321132	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27992413
1310305	Ubash3a	ubiquitin associated and SH3 domain containing, A	gene	DOID:1909	melanoma		ISO	RGD:1321132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310305	Ubash3a	ubiquitin associated and SH3 domain containing, A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310305	Ubash3a	ubiquitin associated and SH3 domain containing, A	gene	DOID:4362	cervical cancer		ISO	RGD:1321132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310305	Ubash3a	ubiquitin associated and SH3 domain containing, A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1310305	Ubash3a	ubiquitin associated and SH3 domain containing, A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310305	Ubash3a	ubiquitin associated and SH3 domain containing, A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310305	Ubash3a	ubiquitin associated and SH3 domain containing, A	gene	DOID:9256	colorectal cancer		ISO	RGD:1321132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310306	Mtmr4	myotubularin related protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310306	Mtmr4	myotubularin related protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310306	Mtmr4	myotubularin related protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1321134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310306	Mtmr4	myotubularin related protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1321134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310306	Mtmr4	myotubularin related protein 4	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1321134	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
1310306	Mtmr4	myotubularin related protein 4	gene	DOID:3275	thymoma		ISO	RGD:1321134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310306	Mtmr4	myotubularin related protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1321134	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310306	Mtmr4	myotubularin related protein 4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1310306	Mtmr4	myotubularin related protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310306	Mtmr4	myotubularin related protein 4	gene	DOID:767	muscular atrophy		IEP		D	RGD:7242174|PMID:19125695	20130327	RGD		protein:decreased expression:gastrocnemius	
1310306	Mtmr4	myotubularin related protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310308	Ptcd2	pentatricopeptide repeat domain 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310308	Ptcd2	pentatricopeptide repeat domain 2	gene	DOID:1909	melanoma		ISO	RGD:1321137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310308	Ptcd2	pentatricopeptide repeat domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310308	Ptcd2	pentatricopeptide repeat domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310308	Ptcd2	pentatricopeptide repeat domain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310309	Qprt	quinolinate phosphoribosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310309	Qprt	quinolinate phosphoribosyltransferase	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1321139	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
1310309	Qprt	quinolinate phosphoribosyltransferase	gene	DOID:12858	Huntington's disease		IDA		D	RGD:13524507|PMID:2527078	20180411	RGD			
1310309	Qprt	quinolinate phosphoribosyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1321139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310309	Qprt	quinolinate phosphoribosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310309	Qprt	quinolinate phosphoribosyltransferase	gene	DOID:8457	pellagra		ISS	RGD:1321140	D	RGD:13592920	20250612	MouseDO			
1310309	Qprt	quinolinate phosphoribosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310310	Kif7	kinesin family member 7	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1343265	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868|PMID:28492532|PMID:29286531
1310310	Kif7	kinesin family member 7	gene	DOID:0050779	hydrolethalus syndrome		ISO	RGD:1343265	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552264
1310310	Kif7	kinesin family member 7	gene	DOID:0050779	hydrolethalus syndrome		ISS	RGD:1321141	D	RGD:13592920	20230718	MouseDO			
1310310	Kif7	kinesin family member 7	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:28492532
1310310	Kif7	kinesin family member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310310	Kif7	kinesin family member 7	gene	DOID:0060250	idiopathic scoliosis		ISO	RGD:1343265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADOLESCENT ISOLATED SCOLIOSIS	PMID:21552264|PMID:25741868|PMID:28492532
1310310	Kif7	kinesin family member 7	gene	DOID:0060260	ptosis		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532|PMID:29286531
1310310	Kif7	kinesin family member 7	gene	DOID:0060313	tracheomalacia		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:28492532
1310310	Kif7	kinesin family member 7	gene	DOID:0060340	ciliopathy		ISS	RGD:1321141	D	RGD:13592920	20180518	MouseDO			
1310310	Kif7	kinesin family member 7	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 1	PMID:25741868
1310310	Kif7	kinesin family member 7	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1343265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:21552264|PMID:25741868|PMID:28492532|PMID:29343940
1310310	Kif7	kinesin family member 7	gene	DOID:0111355	hydrolethalus syndrome 1		ISO	RGD:1343265	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1310310	Kif7	kinesin family member 7	gene	DOID:0111356	hydrolethalus syndrome 2		ISO	RGD:1343265	D	RGD:7240710	20140911	OMIM			
1310310	Kif7	kinesin family member 7	gene	DOID:0111356	hydrolethalus syndrome 2		ISO	RGD:1343265	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydrolethalus syndrome 2	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25131622|PMID:25741868|PMID:26174511|PMID:26633542|PMID:26648833|PMID:27081521|PMID:28492532
1310310	Kif7	kinesin family member 7	gene	DOID:10534	stomach cancer		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310310	Kif7	kinesin family member 7	gene	DOID:1059	intellectual disability		ISO	RGD:1343265	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1310310	Kif7	kinesin family member 7	gene	DOID:1059	intellectual disability		ISO	RGD:1343265	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29620724
1310310	Kif7	kinesin family member 7	gene	DOID:1059	intellectual disability		ISO	RGD:1343265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29343940|PMID:29620724
1310310	Kif7	kinesin family member 7	gene	DOID:10908	hydrocephalus		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Ventriculomegaly	PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29286531
1310310	Kif7	kinesin family member 7	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532|PMID:29286531
1310310	Kif7	kinesin family member 7	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic ovaries	PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29620724
1310310	Kif7	kinesin family member 7	gene	DOID:12336	male infertility		ISO	RGD:1343265	D	RGD:8554872	20240528	ClinVar		ClinVar Annotator: match by term: Male infertility due to gonadal dysgenesis or sperm disorder	PMID:25741868|PMID:28492532|PMID:29286531
1310310	Kif7	kinesin family member 7	gene	DOID:12712	nephronophthisis		ISO	RGD:1343265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:21552264|PMID:25741868|PMID:28492532|PMID:29343940
1310310	Kif7	kinesin family member 7	gene	DOID:12849	autistic disorder		ISO	RGD:1343265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:21552264|PMID:25741868|PMID:28492532|PMID:29343940
1310310	Kif7	kinesin family member 7	gene	DOID:13620	patent foramen ovale		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:28492532
1310310	Kif7	kinesin family member 7	gene	DOID:1826	epilepsy		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: seizures	PMID:25741868|PMID:28492532|PMID:29286531
1310310	Kif7	kinesin family member 7	gene	DOID:2234	focal epilepsy		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532
1310310	Kif7	kinesin family member 7	gene	DOID:3275	thymoma		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310310	Kif7	kinesin family member 7	gene	DOID:3827	congenital diaphragmatic hernia		IEP		D	RGD:11553839|PMID:25921351	20161014	RGD		mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme;	
1310310	Kif7	kinesin family member 7	gene	DOID:3827	congenital diaphragmatic hernia		ISS	RGD:1321141	D	RGD:13592920	20180719	MouseDO		OMIM:142340 | OMIM:222400 | OMIM:610187	
1310310	Kif7	kinesin family member 7	gene	DOID:4362	cervical cancer		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310310	Kif7	kinesin family member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1343265	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1310310	Kif7	kinesin family member 7	gene	DOID:540	strabismus		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:29286531
1310310	Kif7	kinesin family member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310310	Kif7	kinesin family member 7	gene	DOID:630	genetic disease		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25131622|PMID:25741868|PMID:26174511|PMID:26648833|PMID:28492532
1310310	Kif7	kinesin family member 7	gene	DOID:674	cleft palate		ISO	RGD:1343265	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552264
1310310	Kif7	kinesin family member 7	gene	DOID:9000923	Joubert Syndrome 12		ISO	RGD:1343265	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 12 | ClinVar Annotator: match by term: Joubert syndrome 12	PMID:25741868|PMID:26174511|PMID:28492532
1310310	Kif7	kinesin family member 7	gene	DOID:9001875	Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency		ISO	RGD:1343265	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency	PMID:25741868
1310310	Kif7	kinesin family member 7	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29620724
1310310	Kif7	kinesin family member 7	gene	DOID:9003133	Hypertelorism		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29620724
1310310	Kif7	kinesin family member 7	gene	DOID:9003677	Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies		ISO	RGD:1343265	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310310	Kif7	kinesin family member 7	gene	DOID:9003677	Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies		ISO	RGD:1343265	D	RGD:7240710	20190315	OMIM			
1310310	Kif7	kinesin family member 7	gene	DOID:9003677	Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies		ISO	RGD:1343265	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25131622|PMID:25741868|PMID:26174511|PMID:26633542|PMID:26648833|PMID:27081521|PMID:28492532
1310310	Kif7	kinesin family member 7	gene	DOID:9003816	Macrocephaly		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29620724
1310310	Kif7	kinesin family member 7	gene	DOID:9004327	Colpocephaly		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29620724
1310310	Kif7	kinesin family member 7	gene	DOID:9004866	Ataxia		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532|PMID:29286531
1310310	Kif7	kinesin family member 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:29286531
1310310	Kif7	kinesin family member 7	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28492532|PMID:29286531
1310310	Kif7	kinesin family member 7	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29620724
1310310	Kif7	kinesin family member 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:27081521|PMID:28492532
1310310	Kif7	kinesin family member 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:27081521|PMID:28492532
1310310	Kif7	kinesin family member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310310	Kif7	kinesin family member 7	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:29286531
1310310	Kif7	kinesin family member 7	gene	DOID:9250	acrocallosal syndrome		ISO	RGD:1343265	D	RGD:11068757|PMID:21552264	20161013	RGD		DNA:missense,frameshift mutations:cds:	
1310310	Kif7	kinesin family member 7	gene	DOID:9250	acrocallosal syndrome		ISO	RGD:1343265	D	RGD:11553832|PMID:23125460	20161013	RGD		DNA:mutations:cds,splice junction:	
1310310	Kif7	kinesin family member 7	gene	DOID:9250	acrocallosal syndrome		ISO	RGD:1343265	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552264
1310310	Kif7	kinesin family member 7	gene	DOID:9250	acrocallosal syndrome		ISO	RGD:1343265	D	RGD:7240710	20130731	OMIM			
1310310	Kif7	kinesin family member 7	gene	DOID:9250	acrocallosal syndrome		ISO	RGD:1343265	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar Annotator: match by term: HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic | ClinVar Annotator: match by term: Schinzel syndrome 1	PMID:16199547|PMID:17576681|PMID:18414213|PMID:19666503|PMID:21552264|PMID:21633164|PMID:22246503|PMID:22587682|PMID:23125460|PMID:24033266|PMID:24339784|PMID:25131622|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26174511|PMID:26349186|PMID:26633542|PMID:26648833|PMID:27081521|PMID:28492532|PMID:28805617|PMID:29286531|PMID:29321670|PMID:29915382|PMID:30315573|PMID:31399769|PMID:32055034|PMID:32164589|PMID:32738303|PMID:33382518|PMID:34489640|PMID:35770050|PMID:36474027|PMID:36653407|PMID:9536098
1310310	Kif7	kinesin family member 7	gene	DOID:9250	acrocallosal syndrome		ISO	RGD:1343265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ACROCALLOSAL SYNDROME | ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar Annotator: match by term: Schinzel syndrome 1 | ClinVar Annotator: match by term: acrocallosal syndrome	PMID:16199547|PMID:17576681|PMID:19666503|PMID:21552264|PMID:21633164|PMID:22587682|PMID:23125460|PMID:24033266|PMID:25131622|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26174511|PMID:26349186|PMID:26633542|PMID:26648833|PMID:27081521|PMID:28492532|PMID:28497568|PMID:28805617|PMID:29286531|PMID:29321670|PMID:29343940|PMID:29620724|PMID:30315573|PMID:31399769|PMID:32055034|PMID:32164589|PMID:32552793|PMID:32738303|PMID:9536098
1310310	Kif7	kinesin family member 7	gene	DOID:9250	acrocallosal syndrome		ISS	RGD:1321141	D	RGD:13592920	20230718	MouseDO		OMIM:200990	
1310310	Kif7	kinesin family member 7	gene	DOID:9296	cleft lip		ISO	RGD:1343265	D	RGD:11553833|PMID:26602496	20161013	RGD		DNA:SNPs:introns:rs4932238,rs4932240(human)	
1310310	Kif7	kinesin family member 7	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:29286531
1310311	Dnaaf2	dynein, axonemal, assembly factor 2	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1321142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kartagener syndrome	PMID:24498942
1310311	Dnaaf2	dynein, axonemal, assembly factor 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321142	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1310311	Dnaaf2	dynein, axonemal, assembly factor 2	gene	DOID:0110612	primary ciliary dyskinesia 10		ISO	RGD:1321142	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310311	Dnaaf2	dynein, axonemal, assembly factor 2	gene	DOID:0110612	primary ciliary dyskinesia 10		ISO	RGD:1321142	D	RGD:7240710	20190315	OMIM			
1310311	Dnaaf2	dynein, axonemal, assembly factor 2	gene	DOID:0110612	primary ciliary dyskinesia 10		ISO	RGD:1321142	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 10, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DNAAF2-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 | ClinVar Annotator: match by term: primary ciliary dyskinesia 10	PMID:19052621|PMID:24033266|PMID:24498942|PMID:25741868|PMID:28492532
1310311	Dnaaf2	dynein, axonemal, assembly factor 2	gene	DOID:0110612	primary ciliary dyskinesia 10		ISS	RGD:1321143	D	RGD:13592920	20230718	MouseDO		OMIM:612518	
1310311	Dnaaf2	dynein, axonemal, assembly factor 2	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1321142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:28492532
1310311	Dnaaf2	dynein, axonemal, assembly factor 2	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1321142	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:17576681|PMID:19052621|PMID:24033266|PMID:24498942|PMID:25741868|PMID:28492532|PMID:31765523|PMID:32719396|PMID:35239159|PMID:9536098
1310312	Isg15	ISG15 ubiquitin-like modifier	gene	DOID:0080600	COVID-19		ISO	RGD:1321144	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1310312	Isg15	ISG15 ubiquitin-like modifier	gene	DOID:0111934	immunodeficiency 38		ISO	RGD:1321144	D	RGD:7240710	20150408	OMIM			
1310312	Isg15	ISG15 ubiquitin-like modifier	gene	DOID:0111934	immunodeficiency 38		ISO	RGD:1321144	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION | ClinVar Annotator: match by term: Immunodeficiency 38 with basal ganglia calcification | ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32402279|PMID:9536098
1310312	Isg15	ISG15 ubiquitin-like modifier	gene	DOID:1470	major depressive disorder		ISO	RGD:1321144	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29175309
1310312	Isg15	ISG15 ubiquitin-like modifier	gene	DOID:3070	high grade glioma		ISO	RGD:1321144	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506701
1310312	Isg15	ISG15 ubiquitin-like modifier	gene	DOID:5041	esophageal cancer		ISO	RGD:1321144	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310312	Isg15	ISG15 ubiquitin-like modifier	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321144	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:28919514
1310312	Isg15	ISG15 ubiquitin-like modifier	gene	DOID:9001488	Human Influenza		ISO	RGD:1321144	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1310312	Isg15	ISG15 ubiquitin-like modifier	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1321144	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506701
1310312	Isg15	ISG15 ubiquitin-like modifier	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1321144	D	RGD:40400915|PMID:28036111	20201105	RGD			
1310312	Isg15	ISG15 ubiquitin-like modifier	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:5490977|PMID:20973890	20120321	RGD			
1310312	Isg15	ISG15 ubiquitin-like modifier	gene	DOID:9007702	Carcinogenesis		ISO	RGD:1321144	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506701
1310313	Tmem59	transmembrane protein 59	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310313	Tmem59	transmembrane protein 59	gene	DOID:10534	stomach cancer		ISO	RGD:1321145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310313	Tmem59	transmembrane protein 59	gene	DOID:1909	melanoma		ISO	RGD:1321145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310313	Tmem59	transmembrane protein 59	gene	DOID:4362	cervical cancer		ISO	RGD:1321145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310313	Tmem59	transmembrane protein 59	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310313	Tmem59	transmembrane protein 59	gene	DOID:5041	esophageal cancer		ISO	RGD:1321145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310313	Tmem59	transmembrane protein 59	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310313	Tmem59	transmembrane protein 59	gene	DOID:9002239	Estrogen Resistance		ISO	RGD:1321145	D	RGD:8554872	20181206	ClinVar		ClinVar Annotator: match by term: Estrogen resistance	
1310313	Tmem59	transmembrane protein 59	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310314	Farsa	phenylalanyl-tRNA synthetase subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1321146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310314	Farsa	phenylalanyl-tRNA synthetase subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1321146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310314	Farsa	phenylalanyl-tRNA synthetase subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310314	Farsa	phenylalanyl-tRNA synthetase subunit alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310314	Farsa	phenylalanyl-tRNA synthetase subunit alpha	gene	DOID:9001670	Rajab Interstitial Lung Disease with Brain Calcifications 2		ISO	RGD:1321146	D	RGD:7240710	20200930	OMIM			
1310314	Farsa	phenylalanyl-tRNA synthetase subunit alpha	gene	DOID:9001670	Rajab Interstitial Lung Disease with Brain Calcifications 2		ISO	RGD:1321146	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FARSA-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2	PMID:25741868|PMID:35918773
1310315	Prox2	prospero homeobox 2	gene	DOID:1115	sarcoma		ISO	RGD:1606668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310315	Prox2	prospero homeobox 2	gene	DOID:1909	melanoma		ISO	RGD:1606668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310317	Kbtbd2	kelch repeat and BTB domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310317	Kbtbd2	kelch repeat and BTB domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310317	Kbtbd2	kelch repeat and BTB domain containing 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310318	Cnot4	CCR4-NOT transcription complex, subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310318	Cnot4	CCR4-NOT transcription complex, subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310318	Cnot4	CCR4-NOT transcription complex, subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310318	Cnot4	CCR4-NOT transcription complex, subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310318	Cnot4	CCR4-NOT transcription complex, subunit 4	gene	DOID:1909	melanoma		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310318	Cnot4	CCR4-NOT transcription complex, subunit 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310318	Cnot4	CCR4-NOT transcription complex, subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1321153	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310318	Cnot4	CCR4-NOT transcription complex, subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310318	Cnot4	CCR4-NOT transcription complex, subunit 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310318	Cnot4	CCR4-NOT transcription complex, subunit 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310318	Cnot4	CCR4-NOT transcription complex, subunit 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310320	Tmem177	transmembrane protein 177	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310321	Me2	malic enzyme 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310321	Me2	malic enzyme 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310321	Me2	malic enzyme 2	gene	DOID:1115	sarcoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310321	Me2	malic enzyme 2	gene	DOID:1909	melanoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310321	Me2	malic enzyme 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310321	Me2	malic enzyme 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310321	Me2	malic enzyme 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321157	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310321	Me2	malic enzyme 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310321	Me2	malic enzyme 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:39401966
1310321	Me2	malic enzyme 2	gene	DOID:9006102	Right Ventricular Hypertrophy		IEP		D	RGD:151361111|PMID:23794090	20220223	RGD		mRNA:increased expression:right  and right ventricles	
1310321	Me2	malic enzyme 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310321	Me2	malic enzyme 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310321	Me2	malic enzyme 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310322	Slc39a5	solute carrier family 39 member 5	gene	DOID:1909	melanoma		ISO	RGD:1321159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310322	Slc39a5	solute carrier family 39 member 5	gene	DOID:3275	thymoma		ISO	RGD:1321159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310322	Slc39a5	solute carrier family 39 member 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310322	Slc39a5	solute carrier family 39 member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310322	Slc39a5	solute carrier family 39 member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310322	Slc39a5	solute carrier family 39 member 5	gene	DOID:9008442	Myopia 24, Autosomal Dominant		ISO	RGD:1321159	D	RGD:7240710	20170329	OMIM			
1310322	Slc39a5	solute carrier family 39 member 5	gene	DOID:9008442	Myopia 24, Autosomal Dominant		ISO	RGD:1321159	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYOPIA 24, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myopia 24, autosomal dominant | ClinVar Annotator: match by term: SLC39A5-related condition | ClinVar Annotator: match by term: myopia 24, autosomal dominant	PMID:25741868
1310323	Frmd8	FERM domain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310323	Frmd8	FERM domain containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602672	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310323	Frmd8	FERM domain containing 8	gene	DOID:1115	sarcoma		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310323	Frmd8	FERM domain containing 8	gene	DOID:1324	lung cancer		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310323	Frmd8	FERM domain containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310323	Frmd8	FERM domain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1602672	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310323	Frmd8	FERM domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310323	Frmd8	FERM domain containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310323	Frmd8	FERM domain containing 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310323	Frmd8	FERM domain containing 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1602672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310324	Zswim7	zinc finger, SWIM-type containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310324	Zswim7	zinc finger, SWIM-type containing 7	gene	DOID:0061014	ovarian dysgenesis 10		ISO	RGD:1606167	D	RGD:7240710	20220427	OMIM			
1310324	Zswim7	zinc finger, SWIM-type containing 7	gene	DOID:0061014	ovarian dysgenesis 10		ISO	RGD:1606167	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian dysgenesis 10	
1310324	Zswim7	zinc finger, SWIM-type containing 7	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1606167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	
1310324	Zswim7	zinc finger, SWIM-type containing 7	gene	DOID:0070570	spermatogenic failure 71		ISO	RGD:1606167	D	RGD:7240710	20220427	OMIM			
1310324	Zswim7	zinc finger, SWIM-type containing 7	gene	DOID:0070570	spermatogenic failure 71		ISO	RGD:1606167	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 71	PMID:25741868
1310324	Zswim7	zinc finger, SWIM-type containing 7	gene	DOID:3275	thymoma		ISO	RGD:1606167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310324	Zswim7	zinc finger, SWIM-type containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310324	Zswim7	zinc finger, SWIM-type containing 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310324	Zswim7	zinc finger, SWIM-type containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310324	Zswim7	zinc finger, SWIM-type containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310325	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310325	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310325	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310325	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310325	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:303	substance-related disorder		ISO	RGD:1321163	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1310325	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310325	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310325	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1321163	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310325	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310325	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310325	Chchd3	coiled-coil-helix-coiled-coil-helix domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310326	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310326	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:10534	stomach cancer		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310326	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351078	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310326	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:2661	myoepithelioma		ISO	RGD:1351078	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1310326	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:4362	cervical cancer		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310326	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:5041	esophageal cancer		ISO	RGD:1351078	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310326	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310326	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310326	Ccdc28a	coiled-coil domain containing 28A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310329	Nif3l1	NGG1 interacting factor 3 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310329	Nif3l1	NGG1 interacting factor 3 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310329	Nif3l1	NGG1 interacting factor 3 like 1	gene	DOID:1909	melanoma		ISO	RGD:1321170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310329	Nif3l1	NGG1 interacting factor 3 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310329	Nif3l1	NGG1 interacting factor 3 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310329	Nif3l1	NGG1 interacting factor 3 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310330	Slc38a6	solute carrier family 38, member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1321172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310330	Slc38a6	solute carrier family 38, member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310330	Slc38a6	solute carrier family 38, member 6	gene	DOID:1115	sarcoma		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310330	Slc38a6	solute carrier family 38, member 6	gene	DOID:1909	melanoma		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310330	Slc38a6	solute carrier family 38, member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1321172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310330	Slc38a6	solute carrier family 38, member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1321172	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310330	Slc38a6	solute carrier family 38, member 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310330	Slc38a6	solute carrier family 38, member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310330	Slc38a6	solute carrier family 38, member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310330	Slc38a6	solute carrier family 38, member 6	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310330	Slc38a6	solute carrier family 38, member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310330	Slc38a6	solute carrier family 38, member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310330	Slc38a6	solute carrier family 38, member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321175	D	RGD:11558016|PMID:20029941	20161107	RGD		mRNA:increased expression:blood (human)	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321175	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:0060041	autism spectrum disorder	susceptibility	ISO	RGD:1321175	D	RGD:11558013|PMID:24442360	20161107	RGD		DNA:snp:exon:c.2458G>A (rs7170637) (human)	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1321175	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:0111715	Schaaf-Yang syndrome		ISO	RGD:1321175	D	RGD:11558012|PMID:17435464	20161107	RGD		associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human)	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1321175	D	RGD:8554872	20250423	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3	PMID:21681106|PMID:25741868|PMID:30208311
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:14261	fragile X syndrome		ISO	RGD:1321176	D	RGD:11558008|PMID:22900020	20161107	RGD			
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:3328	temporal lobe epilepsy		IEP		D	RGD:11568065|PMID:26000921	20161208	RGD		mRNA, protein:increased expression:hippocampus, cerebral cortex (rat)	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321175	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:5419	schizophrenia		ISO	RGD:1321175	D	RGD:11558009|PMID:20298200	20161107	RGD		DNA:deletion:cds: (human)	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310332	Cyfip1	cytoplasmic FMR1 interacting protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1321175	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310333	Itga3	integrin subunit alpha 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310333	Itga3	integrin subunit alpha 3	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:25741868
1310333	Itga3	integrin subunit alpha 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310333	Itga3	integrin subunit alpha 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310333	Itga3	integrin subunit alpha 3	gene	DOID:1115	sarcoma		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310333	Itga3	integrin subunit alpha 3	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:29127259
1310333	Itga3	integrin subunit alpha 3	gene	DOID:1324	lung cancer		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1310333	Itga3	integrin subunit alpha 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310333	Itga3	integrin subunit alpha 3	gene	DOID:2355	anemia		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1310333	Itga3	integrin subunit alpha 3	gene	DOID:2921	glomerulonephritis		IEP		D	RGD:2325666|PMID:19662603	20100604	RGD		protein:decreased expression:glomerulus (rat)	
1310333	Itga3	integrin subunit alpha 3	gene	DOID:3275	thymoma		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310333	Itga3	integrin subunit alpha 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1310333	Itga3	integrin subunit alpha 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1310333	Itga3	integrin subunit alpha 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310333	Itga3	integrin subunit alpha 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1321177	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1310333	Itga3	integrin subunit alpha 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310333	Itga3	integrin subunit alpha 3	gene	DOID:5844	myocardial infarction		IEP		D	RGD:2325287|PMID:19041328	20100528	RGD		protein:increased expression:myocardium (rat)	
1310333	Itga3	integrin subunit alpha 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310333	Itga3	integrin subunit alpha 3	gene	DOID:630	genetic disease		ISO	RGD:1321177	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310333	Itga3	integrin subunit alpha 3	gene	DOID:9002211	Hyperalgesia		IMP		D	RGD:2302139|PMID:15836982	20081120	RGD		knock-down using a specific monoclonal antibody or RNAi	
1310333	Itga3	integrin subunit alpha 3	gene	DOID:9002211	Hyperalgesia		IMP		D	RGD:2302389|PMID:14984413	20110711	RGD			
1310333	Itga3	integrin subunit alpha 3	gene	DOID:9003936	Cardiomegaly		IEP		D	RGD:2325829|PMID:1835909	20100611	RGD		protein:increased expression:cardiac myocyte (rat)	
1310333	Itga3	integrin subunit alpha 3	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:2325818|PMID:20525748	20100610	RGD		protein:decreased expression:renal cortex (rat)	
1310333	Itga3	integrin subunit alpha 3	gene	DOID:9006333	Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome		ISO	RGD:1321177	D	RGD:7240710	20140911	OMIM			
1310333	Itga3	integrin subunit alpha 3	gene	DOID:9006333	Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome		ISO	RGD:1321177	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | ClinVar Annotator: match by term: ITGA3-related condition | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	PMID:16199547|PMID:22512483|PMID:24088041|PMID:25741868|PMID:26633545|PMID:27717396|PMID:28492532|PMID:29127259
1310333	Itga3	integrin subunit alpha 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310333	Itga3	integrin subunit alpha 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:0060058	lymphoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:10534	stomach cancer		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:1115	sarcoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:1324	lung cancer		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:3275	thymoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1343416	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310335	Cip2a	cellular inhibitor of PP2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310336	Ccl19	C-C motif chemokine ligand 19	gene	DOID:1205	allergic disease		ISO	RGD:1321181	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
1310336	Ccl19	C-C motif chemokine ligand 19	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1321181	D	RGD:5130912|PMID:12626344	20110413	RGD		mRNA, protein:increased expression:lung	
1310336	Ccl19	C-C motif chemokine ligand 19	gene	DOID:13564	aspergillosis		ISO	RGD:1321182	D	RGD:5130908|PMID:19783686	20110413	RGD		associated with Neutropenia;mRNA:increased expression:lung	
1310336	Ccl19	C-C motif chemokine ligand 19	gene	DOID:2841	asthma		ISO	RGD:1321181	D	RGD:5130911|PMID:16959919	20110413	RGD		protein:increased expression:bronchus submucosa, mast cell	
1310336	Ccl19	C-C motif chemokine ligand 19	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1321182	D	RGD:5130906|PMID:19933855	20110413	RGD		mRNA:increased expression:lung	
1310336	Ccl19	C-C motif chemokine ligand 19	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1321181	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17597826
1310336	Ccl19	C-C motif chemokine ligand 19	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1321181	D	RGD:5130910|PMID:17717200	20110413	RGD		mRNA:increased expression:lung	
1310336	Ccl19	C-C motif chemokine ligand 19	gene	DOID:4483	rhinitis		ISO	RGD:1321182	D	RGD:5130909|PMID:17947663	20110413	RGD			
1310336	Ccl19	C-C motif chemokine ligand 19	gene	DOID:552	pneumonia		ISO	RGD:1321181	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
1310336	Ccl19	C-C motif chemokine ligand 19	gene	DOID:874	bacterial pneumonia		ISO	RGD:1321182	D	RGD:5130918|PMID:20176793	20110414	RGD		mRNA, protein:increased expression:lung	
1310337	Papolg	poly(A) polymerase gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310337	Papolg	poly(A) polymerase gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310337	Papolg	poly(A) polymerase gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310337	Papolg	poly(A) polymerase gamma	gene	DOID:1115	sarcoma		ISO	RGD:1321183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310337	Papolg	poly(A) polymerase gamma	gene	DOID:1324	lung cancer		ISO	RGD:1321183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310337	Papolg	poly(A) polymerase gamma	gene	DOID:3275	thymoma		ISO	RGD:1321183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310337	Papolg	poly(A) polymerase gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1321183	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310337	Papolg	poly(A) polymerase gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310337	Papolg	poly(A) polymerase gamma	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321183	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310337	Papolg	poly(A) polymerase gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310337	Papolg	poly(A) polymerase gamma	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310339	Hacd4	3-hydroxyacyl-CoA dehydratase 4	gene	DOID:1115	sarcoma		ISO	RGD:1601904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310339	Hacd4	3-hydroxyacyl-CoA dehydratase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:10534	stomach cancer		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:1115	sarcoma		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:1324	lung cancer		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:1909	melanoma		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:3275	thymoma		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:4362	cervical cancer		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:5041	esophageal cancer		ISO	RGD:1321188	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310340	Dhx57	DExH-box helicase 57	gene	DOID:9256	colorectal cancer		ISO	RGD:1321188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:0080600	COVID-19		ISO	RGD:1321189	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:0081206	autosomal recessive intellectual developmental disorder 41		ISO	RGD:1321189	D	RGD:7240710	20140911	OMIM			
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:0081206	autosomal recessive intellectual developmental disorder 41		ISO	RGD:1321189	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 41 | ClinVar Annotator: match by term: KPTN-related condition | ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 41	PMID:16199547|PMID:17576681|PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:30008475|PMID:31345272|PMID:32238909|PMID:32358097|PMID:36703628|PMID:9536098
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:0081206	autosomal recessive intellectual developmental disorder 41		ISS	RGD:1623180	D	RGD:13592920	20240314	MouseDO		OMIM:615637	
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:1059	intellectual disability		ISO	RGD:1321189	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:32238909
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:12849	autistic disorder		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:1324	lung cancer		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:1826	epilepsy		ISO	RGD:1321189	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:32238909
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:1909	melanoma		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:3070	high grade glioma		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:630	genetic disease		ISO	RGD:1321189	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310341	Kptn	kaptin (actin binding protein)	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321189	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:32238909
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:1115	sarcoma		ISO	RGD:1321190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:1324	lung cancer		ISO	RGD:1321190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:1909	melanoma		ISO	RGD:1321190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:3275	thymoma		ISO	RGD:1321190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:4362	cervical cancer		ISO	RGD:1321190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:5041	esophageal cancer		ISO	RGD:1321190	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310342	Shprh	SNF2 histone linker PHD RING helicase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310343	Dclre1b	DNA cross-link repair 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310343	Dclre1b	DNA cross-link repair 1B	gene	DOID:0111087	Fanconi anemia complementation group C		ISO	RGD:1321192	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group C	PMID:25741868
1310343	Dclre1b	DNA cross-link repair 1B	gene	DOID:1115	sarcoma		ISO	RGD:1321192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1310343	Dclre1b	DNA cross-link repair 1B	gene	DOID:9001272	Hoyeraal-Hreidarsson Syndrome		ISO	RGD:1321192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome	PMID:25741868|PMID:28492532
1310343	Dclre1b	DNA cross-link repair 1B	gene	DOID:9004373	Autosomal Recessive Dyskeratosis Congenita		ISO	RGD:1321192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1310343	Dclre1b	DNA cross-link repair 1B	gene	DOID:9005448	Autosomal Recessive Dyskeratosis Congenita 8		ISO	RGD:1321192	D	RGD:7240710	20221214	OMIM			
1310343	Dclre1b	DNA cross-link repair 1B	gene	DOID:9005448	Autosomal Recessive Dyskeratosis Congenita 8		ISO	RGD:1321192	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DCLRE1B-related disorder | ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8	PMID:25741868|PMID:28492532
1310344	Mesd	mesoderm development LRP chaperone	gene	DOID:0060058	lymphoma		ISO	RGD:1321194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310344	Mesd	mesoderm development LRP chaperone	gene	DOID:0111849	osteogenesis imperfecta type 20		ISO	RGD:1321194	D	RGD:7240710	20191030	OMIM			
1310344	Mesd	mesoderm development LRP chaperone	gene	DOID:0111849	osteogenesis imperfecta type 20		ISO	RGD:1321194	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MESD-related condition | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XX	PMID:25741868|PMID:28492532|PMID:31564437
1310344	Mesd	mesoderm development LRP chaperone	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310344	Mesd	mesoderm development LRP chaperone	gene	DOID:1324	lung cancer		ISO	RGD:1321194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310344	Mesd	mesoderm development LRP chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:0112141	retinitis pigmentosa 84		ISO	RGD:1321196	D	RGD:7240710	20190315	OMIM			
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:0112141	retinitis pigmentosa 84		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DHX38-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 84	PMID:24737827|PMID:25741868|PMID:28492532|PMID:30208423
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:10534	stomach cancer		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321196	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:30208423
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:3275	thymoma		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:4362	cervical cancer		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:5041	esophageal cancer		ISO	RGD:1321196	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321196	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30653986|PMID:9536098
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310345	Dhx38	DEAH-box helicase 38	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:1909	melanoma		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:3275	thymoma		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310346	Slc37a3	solute carrier family 37, member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:0050952	spastic ataxia		ISO	RGD:1318772	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532|PMID:34445196
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1318772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation	PMID:20853438|PMID:25741868|PMID:27217339|PMID:27316240|PMID:28492532|PMID:31135052|PMID:32907636|PMID:33059505|PMID:36109173
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:15337768|PMID:20104589|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33246395|PMID:36002593|PMID:38275596
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:0110786	hereditary spastic paraplegia 35		ISO	RGD:1318772	D	RGD:7240710	20130221	OMIM			
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:0110786	hereditary spastic paraplegia 35		ISO	RGD:1318772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FA2H-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION | ClinVar Annotator: match by term: Spastic paraplegia 35	PMID:15337768|PMID:16199547|PMID:17576681|PMID:19068277|PMID:20104589|PMID:20853438|PMID:22965561|PMID:23566484|PMID:23812641|PMID:24299421|PMID:25326637|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:26467025|PMID:26944241|PMID:27217339|PMID:27316240|PMID:28017243|PMID:28492532|PMID:29423566|PMID:29590070|PMID:30446360|PMID:30532373|PMID:30713878|PMID:31130284|PMID:31135052|PMID:31407473|PMID:31429931|PMID:31690835|PMID:32619247|PMID:32907636|PMID:33059505|PMID:33083013|PMID:33144682|PMID:33246395|PMID:33528536|PMID:34445196|PMID:34852264|PMID:35872528|PMID:36002593|PMID:36109173|PMID:36790591|PMID:38127101|PMID:38275596|PMID:38703036|PMID:9536098
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:0110786	hereditary spastic paraplegia 35		ISS	RGD:1318773	D	RGD:13592920	20230718	MouseDO		OMIM:612319	
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:1059	intellectual disability		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:20104589|PMID:20853438|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:26944241|PMID:28492532|PMID:30713878|PMID:33144682|PMID:36790591
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:12143	neurogenic bladder		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:25741868
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1318772	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:18414213|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25356970|PMID:25741868|PMID:26467025|PMID:27217339|PMID:27957547|PMID:28017243|PMID:28492532|PMID:30713878|PMID:31135052|PMID:31429931|PMID:32624042|PMID:33144682|PMID:34983064|PMID:35578252
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1318772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:23812641|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25741868|PMID:26467025|PMID:27217339|PMID:28017243|PMID:28492532|PMID:29590070|PMID:30713878|PMID:31135052|PMID:31429931|PMID:33144682|PMID:35578252|PMID:36790591|PMID:37573804
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:543	dystonia		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:585	nephrolithiasis		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis	PMID:25741868|PMID:28492532|PMID:29980238|PMID:31135052|PMID:31227335|PMID:31429931|PMID:31628766|PMID:36790591
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:607	paraplegia		ISO	RGD:1318772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:15337768|PMID:16199547|PMID:17576681|PMID:20104589|PMID:20853438|PMID:22965561|PMID:23812641|PMID:24299421|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:26467025|PMID:27165006|PMID:27217339|PMID:27316240|PMID:28492532|PMID:29423566|PMID:29590070|PMID:30446360|PMID:30532373|PMID:30564185|PMID:30713878|PMID:31130284|PMID:31135052|PMID:31407473|PMID:31429931|PMID:32907636|PMID:33059505|PMID:33083013|PMID:33144682|PMID:33246395|PMID:33528536|PMID:34445196|PMID:34852264|PMID:35872528|PMID:36002593|PMID:36109173|PMID:36790591|PMID:37573804|PMID:38127101|PMID:38275596|PMID:9536098
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:630	genetic disease		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135052|PMID:31429931|PMID:33144682|PMID:36790591|PMID:9536098
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:767	muscular atrophy		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:15337768|PMID:20104589|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33246395|PMID:36002593|PMID:38275596
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9000727	Syncope		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9001722	Dysarthria		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:20853438|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:28492532|PMID:29423566|PMID:30713878|PMID:31130284|PMID:31135052|PMID:31429931|PMID:33083013|PMID:33144682|PMID:34852264|PMID:36790591|PMID:38127101
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:15337768|PMID:20104589|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33246395|PMID:36002593|PMID:38275596
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:25741868|PMID:28492532|PMID:29423566|PMID:30713878|PMID:31130284|PMID:31135052|PMID:33083013|PMID:34852264|PMID:38127101
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9004866	Ataxia		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:15337768|PMID:20104589|PMID:20853438|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:28492532|PMID:31130284|PMID:31135052|PMID:31429931|PMID:33144682|PMID:33246395|PMID:36002593|PMID:36790591|PMID:38275596
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:15337768|PMID:20104589|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33246395|PMID:36002593|PMID:38275596
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:15337768|PMID:20104589|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33246395|PMID:36002593|PMID:38275596
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1318772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: urinary incontinence	PMID:25741868
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:15337768|PMID:20104589|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33246395|PMID:36002593|PMID:38275596
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15337768|PMID:20104589|PMID:25741868|PMID:26944241|PMID:28492532|PMID:30713878|PMID:31130284|PMID:33144682|PMID:33246395|PMID:36002593|PMID:38275596
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310347	Fa2h	fatty acid 2-hydroxylase	gene	DOID:9884	muscular dystrophy		ISO	RGD:1318772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:15337768|PMID:20104589|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33246395|PMID:36002593|PMID:38275596
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1606461	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Alstrom syndrome	PMID:25741868|PMID:28492532
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:0081386	TANGO2-related metabolic encephalopathy and arrythmias		ISO	RGD:1606461	D	RGD:7240710	20190315	OMIM			
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:0081386	TANGO2-related metabolic encephalopathy and arrythmias		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION | ClinVar Annotator: match by term: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | ClinVar Annotator: match by term: TANGO2 Deficiency | ClinVar Annotator: match by term: TANGO2-related condition	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26805781|PMID:26805782|PMID:27711071|PMID:28492532|PMID:30245509|PMID:30650451|PMID:31276219|PMID:32573669|PMID:32576985|PMID:32929747|PMID:34668327|PMID:38855866|PMID:9536098
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:1059	intellectual disability		ISO	RGD:1606461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26805781|PMID:28492532|PMID:29369572|PMID:32576985
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:1059	intellectual disability		ISO	RGD:1606461	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:1059	intellectual disability		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:10907	microcephaly		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:10908	hydrocephalus		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:10965	spastic diplegia		ISO	RGD:1606461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:26805781
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:1143	exotropia		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:12849	autistic disorder		ISO	RGD:1606461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:32929747|PMID:37291213
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:1459	hypothyroidism		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:1826	epilepsy		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:32576985|PMID:32929747|PMID:34668327|PMID:37291213|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:1969	cerebral palsy		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:2361	macrocytic anemia		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocytic anemia	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:3650	lactic acidosis		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:423	myopathy		ISO	RGD:1606461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal myopathy	PMID:25741868
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:543	dystonia		ISO	RGD:1606461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:26805781
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:630	genetic disease		ISO	RGD:1606461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26805781|PMID:28492532
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9001722	Dysarthria		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9003760	Myalgia		ISO	RGD:1606461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1606461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9004866	Ataxia		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1606461	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized myoclonic seizures	PMID:25741868|PMID:26805781
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9005444	Torsades de Pointes		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Torsades de pointes	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9007573	Flatfoot		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9007661	Dwarfism		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9007722	Myoclonus		ISO	RGD:1606461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:26805781
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:32576985|PMID:32581362|PMID:32929747|PMID:34668327|PMID:37291213|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9008617	Lethargy		ISO	RGD:1606461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:16199547|PMID:26805781|PMID:26805782|PMID:28492532|PMID:31618753|PMID:33845444
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory tract infection	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:936	brain disease		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:963	episodic ataxia		ISO	RGD:1606461	D	RGD:8554872	20220628	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	PMID:32581362
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9970	obesity		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310348	Tango2	transport and golgi organization 2 homolog	gene	DOID:9993	hypoglycemia		ISO	RGD:1606461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:26805781|PMID:28492532|PMID:32576985|PMID:34668327|PMID:38855866
1310351	Efcab14	EF-hand calcium binding domain 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310351	Efcab14	EF-hand calcium binding domain 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310351	Efcab14	EF-hand calcium binding domain 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310352	C10h5orf15	similar to human chromosome 5 open reading frame 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310353	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:0081274	peroxisome biogenesis disorder 14B		ISO	RGD:1321208	D	RGD:7240710	20140911	OMIM			
1310353	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:0081274	peroxisome biogenesis disorder 14B		ISO	RGD:1321208	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 14B | ClinVar Annotator: match by term: PEX11B-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 14B	PMID:25741868|PMID:28129423|PMID:28492532
1310353	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:630	genetic disease		ISO	RGD:1321208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310353	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:83	cataract		ISO	RGD:1321208	D	RGD:8554872	20170207	ClinVar		ClinVar Annotator: match by term: Congenital Cataract	
1310353	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:9000495	Tremor		ISO	RGD:1321208	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:10704444|PMID:20826455|PMID:25741868|PMID:28129423|PMID:34234304
1310353	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321208	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:22581968|PMID:25741868|PMID:26233629|PMID:28129423|PMID:28492532|PMID:31724321
1310353	Pex11b	peroxisomal biogenesis factor 11 beta	gene	DOID:905	Zellweger syndrome		ISS	RGD:1321209	D	RGD:13592920	20180518	MouseDO		OMIM:214100	
1310354	Usp22	ubiquitin specific peptidase 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310354	Usp22	ubiquitin specific peptidase 22	gene	DOID:10534	stomach cancer		ISO	RGD:1321210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310354	Usp22	ubiquitin specific peptidase 22	gene	DOID:1324	lung cancer		ISO	RGD:1321210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310354	Usp22	ubiquitin specific peptidase 22	gene	DOID:3275	thymoma		ISO	RGD:1321210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310354	Usp22	ubiquitin specific peptidase 22	gene	DOID:4362	cervical cancer		ISO	RGD:1321210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310354	Usp22	ubiquitin specific peptidase 22	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321210	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310354	Usp22	ubiquitin specific peptidase 22	gene	DOID:5041	esophageal cancer		ISO	RGD:1321210	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310354	Usp22	ubiquitin specific peptidase 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310354	Usp22	ubiquitin specific peptidase 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310354	Usp22	ubiquitin specific peptidase 22	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1310355	Msl2	MSL complex subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1343514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310355	Msl2	MSL complex subunit 2	gene	DOID:12849	autistic disorder		ISO	RGD:1343514	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1310355	Msl2	MSL complex subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1343514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310355	Msl2	MSL complex subunit 2	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1343514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: exercise intolerance	
1310355	Msl2	MSL complex subunit 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1343514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1310355	Msl2	MSL complex subunit 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1310355	Msl2	MSL complex subunit 2	gene	DOID:9009190	Karayol-Borroto-Haghshenas Neurodevelopmental Syndrome		ISO	RGD:1343514	D	RGD:7240710	20241023	OMIM			
1310355	Msl2	MSL complex subunit 2	gene	DOID:9009190	Karayol-Borroto-Haghshenas Neurodevelopmental Syndrome		ISO	RGD:1343514	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KARAYOL-BORROTO-HAGHSHENAS NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Karayol-Borroto-Haghshenas neurodevelopmental syndrome	PMID:25741868
1310355	Msl2	MSL complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310355	Msl2	MSL complex subunit 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1343514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310356	Tnpo2	transportin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310356	Tnpo2	transportin 2	gene	DOID:0081262	intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies		ISO	RGD:1321214	D	RGD:7240710	20211215	OMIM			
1310356	Tnpo2	transportin 2	gene	DOID:0081262	intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies		ISO	RGD:1321214	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition	PMID:25741868|PMID:34314705
1310356	Tnpo2	transportin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310356	Tnpo2	transportin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310356	Tnpo2	transportin 2	gene	DOID:1115	sarcoma		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310356	Tnpo2	transportin 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1321214	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1310356	Tnpo2	transportin 2	gene	DOID:1324	lung cancer		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310356	Tnpo2	transportin 2	gene	DOID:1909	melanoma		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310356	Tnpo2	transportin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310356	Tnpo2	transportin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310356	Tnpo2	transportin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321214	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310356	Tnpo2	transportin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310356	Tnpo2	transportin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310356	Tnpo2	transportin 2	gene	DOID:630	genetic disease		ISO	RGD:1321214	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310356	Tnpo2	transportin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310356	Tnpo2	transportin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310356	Tnpo2	transportin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310357	Ubash3b	ubiquitin associated and SH3 domain containing, B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310357	Ubash3b	ubiquitin associated and SH3 domain containing, B	gene	DOID:10534	stomach cancer		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310357	Ubash3b	ubiquitin associated and SH3 domain containing, B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310357	Ubash3b	ubiquitin associated and SH3 domain containing, B	gene	DOID:1324	lung cancer		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310357	Ubash3b	ubiquitin associated and SH3 domain containing, B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310357	Ubash3b	ubiquitin associated and SH3 domain containing, B	gene	DOID:3275	thymoma		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310357	Ubash3b	ubiquitin associated and SH3 domain containing, B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310357	Ubash3b	ubiquitin associated and SH3 domain containing, B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310357	Ubash3b	ubiquitin associated and SH3 domain containing, B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310357	Ubash3b	ubiquitin associated and SH3 domain containing, B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310357	Ubash3b	ubiquitin associated and SH3 domain containing, B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310358	Uri1	URI1, prefoldin-like chaperone	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310358	Uri1	URI1, prefoldin-like chaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310358	Uri1	URI1, prefoldin-like chaperone	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310358	Uri1	URI1, prefoldin-like chaperone	gene	DOID:1324	lung cancer		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310358	Uri1	URI1, prefoldin-like chaperone	gene	DOID:305	carcinoma		ISO	RGD:1321217	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
1310358	Uri1	URI1, prefoldin-like chaperone	gene	DOID:3275	thymoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310358	Uri1	URI1, prefoldin-like chaperone	gene	DOID:4362	cervical cancer		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310358	Uri1	URI1, prefoldin-like chaperone	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310358	Uri1	URI1, prefoldin-like chaperone	gene	DOID:5041	esophageal cancer		ISO	RGD:1321217	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310358	Uri1	URI1, prefoldin-like chaperone	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310358	Uri1	URI1, prefoldin-like chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310358	Uri1	URI1, prefoldin-like chaperone	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310358	Uri1	URI1, prefoldin-like chaperone	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1321217	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
1310358	Uri1	URI1, prefoldin-like chaperone	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1321217	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
1310359	Ldb1	LIM domain binding 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310359	Ldb1	LIM domain binding 1	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1321219	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability	PMID:25741868
1310359	Ldb1	LIM domain binding 1	gene	DOID:1115	sarcoma		ISO	RGD:1321219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310359	Ldb1	LIM domain binding 1	gene	DOID:1909	melanoma		ISO	RGD:1321219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310359	Ldb1	LIM domain binding 1	gene	DOID:3275	thymoma		ISO	RGD:1321219	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310359	Ldb1	LIM domain binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310359	Ldb1	LIM domain binding 1	gene	DOID:9467	nail-patella syndrome		ISS	RGD:1321220	D	RGD:13592920	20180518	MouseDO		OMIM:161200	
1310360	Kif18b	kinesin family member 18B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310360	Kif18b	kinesin family member 18B	gene	DOID:0080600	COVID-19		ISO	RGD:2292085	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310360	Kif18b	kinesin family member 18B	gene	DOID:1115	sarcoma		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310360	Kif18b	kinesin family member 18B	gene	DOID:1324	lung cancer		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310360	Kif18b	kinesin family member 18B	gene	DOID:1909	melanoma		ISO	RGD:2292085	D	RGD:11554173	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31617652
1310360	Kif18b	kinesin family member 18B	gene	DOID:1909	melanoma		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310360	Kif18b	kinesin family member 18B	gene	DOID:3275	thymoma		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310360	Kif18b	kinesin family member 18B	gene	DOID:5041	esophageal cancer		ISO	RGD:2292085	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310360	Kif18b	kinesin family member 18B	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:2292085	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1310360	Kif18b	kinesin family member 18B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310360	Kif18b	kinesin family member 18B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2292085	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310360	Kif18b	kinesin family member 18B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310360	Kif18b	kinesin family member 18B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310360	Kif18b	kinesin family member 18B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2292085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310361	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310361	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310361	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:1324	lung cancer		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310361	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:1909	melanoma		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310361	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310361	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:303	substance-related disorder		ISO	RGD:1321222	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1310361	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:3070	high grade glioma		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310361	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:4362	cervical cancer		ISO	RGD:1321222	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310361	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:5041	esophageal cancer		ISO	RGD:1321222	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310361	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321222	D	RGD:8554872	20170808	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:28580594
1310361	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310361	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310361	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310361	Samd4a	sterile alpha motif domain containing 4A	gene	DOID:9256	colorectal cancer		ISO	RGD:1321222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310362	Wdtc1	WD and tetratricopeptide repeats 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310362	Wdtc1	WD and tetratricopeptide repeats 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310362	Wdtc1	WD and tetratricopeptide repeats 1	gene	DOID:0060058	lymphoma		ISO	RGD:1321224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310362	Wdtc1	WD and tetratricopeptide repeats 1	gene	DOID:1324	lung cancer		ISO	RGD:1321224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310362	Wdtc1	WD and tetratricopeptide repeats 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310362	Wdtc1	WD and tetratricopeptide repeats 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310362	Wdtc1	WD and tetratricopeptide repeats 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310362	Wdtc1	WD and tetratricopeptide repeats 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310364	Klhl32	kelch-like family member 32	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310364	Klhl32	kelch-like family member 32	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310364	Klhl32	kelch-like family member 32	gene	DOID:1909	melanoma		ISO	RGD:1321228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310364	Klhl32	kelch-like family member 32	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310367	Snx18	sorting nexin 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310367	Snx18	sorting nexin 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310367	Snx18	sorting nexin 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310367	Snx18	sorting nexin 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310367	Snx18	sorting nexin 18	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321231	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17984051
1310367	Snx18	sorting nexin 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310367	Snx18	sorting nexin 18	gene	DOID:9256	colorectal cancer		ISO	RGD:1321231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310369	Sfrp5	secreted frizzled-related protein 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310369	Sfrp5	secreted frizzled-related protein 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1321235	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17923031
1310369	Sfrp5	secreted frizzled-related protein 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1321235	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18283316
1310370	Tlk1	tousled-like kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1321237	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1310370	Tlk1	tousled-like kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321237	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1321237	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:17481512
1310370	Tlk1	tousled-like kinase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310370	Tlk1	tousled-like kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310371	Cfap161	cilia and flagella associated protein 161	gene	DOID:1115	sarcoma		ISO	RGD:1321239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310371	Cfap161	cilia and flagella associated protein 161	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0060194	amyotrophic lateral sclerosis type 2		ISO	RGD:1321241	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0060194	amyotrophic lateral sclerosis type 2		ISO	RGD:1321241	D	RGD:7240710	20130221	OMIM			
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0060194	amyotrophic lateral sclerosis type 2		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders | ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2	PMID:11586298|PMID:17576681|PMID:24315819|PMID:25741868|PMID:26467025|PMID:27159321|PMID:28492532|PMID:28600779|PMID:28832565|PMID:30054184|PMID:30224357|PMID:31069529|PMID:32397312|PMID:33414559|PMID:33770234|PMID:35896380|PMID:9536098
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:11586298|PMID:24315819|PMID:25741868|PMID:27159321|PMID:28492532|PMID:31069529
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:10534	stomach cancer		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:1059	intellectual disability		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:10907	microcephaly		ISO	RGD:1321241	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:10965	spastic diplegia		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:11586298|PMID:24315819|PMID:25741868|PMID:27159321|PMID:28492532|PMID:31069529
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:1115	sarcoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:1324	lung cancer		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:1909	melanoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:1969	cerebral palsy		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:11586298|PMID:24315819|PMID:25741868|PMID:27159321|PMID:28492532|PMID:31069529
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1321241	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:14676054|PMID:17576681|PMID:18852346|PMID:20077034|PMID:23881933|PMID:25174650|PMID:25363768|PMID:25558820|PMID:25741868|PMID:26257771|PMID:26467025|PMID:26637979|PMID:27790088|PMID:28407358|PMID:28430856|PMID:28492532|PMID:28714951|PMID:28832565|PMID:29525178|PMID:31182772|PMID:31589614|PMID:32397312|PMID:33770234|PMID:34011629|PMID:34670123|PMID:37091313|PMID:9536098
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1321241	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:14676054|PMID:17576681|PMID:18852346|PMID:23881933|PMID:25558820|PMID:25741868|PMID:26257771|PMID:26467025|PMID:28430856|PMID:28492532|PMID:28832565|PMID:29525178|PMID:31182772|PMID:32397312|PMID:33414559|PMID:33770234|PMID:34670123|PMID:35896380|PMID:9536098
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:32397312|PMID:33414559|PMID:33770234|PMID:35896380|PMID:9536098
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:3275	thymoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:11586298|PMID:24315819|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:32397312|PMID:33414559|PMID:33770234|PMID:35896380
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:332	amyotrophic lateral sclerosis	susceptibility	ISO	RGD:1321241	D	RGD:1599080|PMID:11586297	20070116	RGD			
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:4362	cervical cancer		ISO	RGD:1321241	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321241	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:543	dystonia		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb dystonia	PMID:32581362
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:607	paraplegia		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:11586298|PMID:24315819|PMID:25741868|PMID:27159321|PMID:28492532|PMID:31069529
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:630	genetic disease		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11586298|PMID:24315819|PMID:25131622|PMID:25356970|PMID:25741868|PMID:26467025|PMID:27159321|PMID:28492532|PMID:31069529
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:767	muscular atrophy		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9000276	Juvenile Amyotrophic Lateral Sclerosis		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis	PMID:11586298|PMID:17576681|PMID:24315819|PMID:25741868|PMID:26467025|PMID:27159321|PMID:28492532|PMID:28600779|PMID:28832565|PMID:31069529|PMID:32397312|PMID:33414559|PMID:33770234|PMID:35896380|PMID:9536098
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9000831	Hypokinesia		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypokinesia	PMID:32581362
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9001722	Dysarthria		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9004896	Primary Lateral Sclerosis Juvenile		ISO	RGD:1321241	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9004896	Primary Lateral Sclerosis Juvenile		ISO	RGD:1321241	D	RGD:7240710	20130221	OMIM			
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9004896	Primary Lateral Sclerosis Juvenile		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Juvenile primary lateral sclerosis	PMID:11586297|PMID:11586298|PMID:24315819|PMID:25741868|PMID:26467025|PMID:27159321|PMID:28492532|PMID:31069529|PMID:32214227|PMID:33098801
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:11586298|PMID:24315819|PMID:25741868|PMID:27159321|PMID:28492532|PMID:31069529
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9005843	Hereditary Spastic Paralysis, Infantile Onset Ascending		ISO	RGD:1321241	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9005843	Hereditary Spastic Paralysis, Infantile Onset Ascending		ISO	RGD:1321241	D	RGD:7240710	20130221	OMIM			
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9005843	Hereditary Spastic Paralysis, Infantile Onset Ascending		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING	PMID:11586297|PMID:11586298|PMID:12145748|PMID:16199547|PMID:16718699|PMID:17576681|PMID:18852346|PMID:23881933|PMID:24315819|PMID:25131622|PMID:25302125|PMID:25356970|PMID:25558820|PMID:25741868|PMID:26467025|PMID:26601740|PMID:26742954|PMID:27159321|PMID:27601211|PMID:28160950|PMID:28430856|PMID:28492532|PMID:28600779|PMID:28832565|PMID:30128655|PMID:30224357|PMID:30581417|PMID:31069529|PMID:31130284|PMID:31405128|PMID:32214227|PMID:32397312|PMID:32579787|PMID:33098801|PMID:33408239|PMID:33409823|PMID:33414559|PMID:33589474|PMID:33770234|PMID:34983064|PMID:35896380|PMID:36549973|PMID:37055917|PMID:37952009|PMID:9536098
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9006178	Dysphonia		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphonia	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:25741868
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:32581362
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9007661	Dwarfism		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321241	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:32581362
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9008214	Genu Valgum		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:37091313
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:37091313
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9256	colorectal cancer		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310372	Als2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9275	tyrosinemia		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertyrosinemia	PMID:32581362
1310373	Tuft1	tuftelin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310373	Tuft1	tuftelin 1	gene	DOID:0070554	palmoplantar keratoderma and woolly hair		ISO	RGD:1321243	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: WOOLLY HAIR-SKIN FRAGILITY SYNDROME	
1310373	Tuft1	tuftelin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310373	Tuft1	tuftelin 1	gene	DOID:1115	sarcoma		ISO	RGD:1321243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310373	Tuft1	tuftelin 1	gene	DOID:1324	lung cancer		ISO	RGD:1321243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310373	Tuft1	tuftelin 1	gene	DOID:3390	palmoplantar keratosis		ISS	RGD:1321244	D	RGD:13592920	20231019	MouseDO			
1310373	Tuft1	tuftelin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310373	Tuft1	tuftelin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310373	Tuft1	tuftelin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310373	Tuft1	tuftelin 1	gene	DOID:630	genetic disease		ISO	RGD:1321243	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310373	Tuft1	tuftelin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310373	Tuft1	tuftelin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310374	Fbxo9	f-box protein 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310374	Fbxo9	f-box protein 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310374	Fbxo9	f-box protein 9	gene	DOID:1324	lung cancer		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310374	Fbxo9	f-box protein 9	gene	DOID:1909	melanoma		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310374	Fbxo9	f-box protein 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310374	Fbxo9	f-box protein 9	gene	DOID:3275	thymoma		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310374	Fbxo9	f-box protein 9	gene	DOID:4362	cervical cancer		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310374	Fbxo9	f-box protein 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310374	Fbxo9	f-box protein 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310374	Fbxo9	f-box protein 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1321245	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310374	Fbxo9	f-box protein 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310374	Fbxo9	f-box protein 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310376	Arhgef39	Rho guanine nucleotide exchange factor 39	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310376	Arhgef39	Rho guanine nucleotide exchange factor 39	gene	DOID:1324	lung cancer		ISO	RGD:1321248	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310376	Arhgef39	Rho guanine nucleotide exchange factor 39	gene	DOID:3275	thymoma		ISO	RGD:1321248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310376	Arhgef39	Rho guanine nucleotide exchange factor 39	gene	DOID:4362	cervical cancer		ISO	RGD:1321248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310376	Arhgef39	Rho guanine nucleotide exchange factor 39	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310376	Arhgef39	Rho guanine nucleotide exchange factor 39	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310376	Arhgef39	Rho guanine nucleotide exchange factor 39	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321248	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310376	Arhgef39	Rho guanine nucleotide exchange factor 39	gene	DOID:9256	colorectal cancer		ISO	RGD:1321248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310377	Phyhd1	phytanoyl-CoA dioxygenase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310377	Phyhd1	phytanoyl-CoA dioxygenase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310377	Phyhd1	phytanoyl-CoA dioxygenase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1321250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310377	Phyhd1	phytanoyl-CoA dioxygenase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310377	Phyhd1	phytanoyl-CoA dioxygenase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310377	Phyhd1	phytanoyl-CoA dioxygenase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310377	Phyhd1	phytanoyl-CoA dioxygenase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310380	Rangap1	RAN GTPase activating protein 1	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1321254	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:27150054
1310380	Rangap1	RAN GTPase activating protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310380	Rangap1	RAN GTPase activating protein 1	gene	DOID:0111117	nephronophthisis-like nephropathy 1		ISO	RGD:1321254	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1	
1310380	Rangap1	RAN GTPase activating protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310380	Rangap1	RAN GTPase activating protein 1	gene	DOID:11446	sciatic neuropathy		IEP		D	RGD:9835000|PMID:18667152	20150319	RGD		protein:increased expression:sciatic nerve, axon, cytoplasm (rat)	
1310380	Rangap1	RAN GTPase activating protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310380	Rangap1	RAN GTPase activating protein 1	gene	DOID:3275	thymoma		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310380	Rangap1	RAN GTPase activating protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310380	Rangap1	RAN GTPase activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310380	Rangap1	RAN GTPase activating protein 1	gene	DOID:9006182	Carotid Artery Injuries		IEP		D	RGD:9835414|PMID:24988324	20150325	RGD		protein:increased expression:carotid artery, intima (rat)	
1310380	Rangap1	RAN GTPase activating protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310380	Rangap1	RAN GTPase activating protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310380	Rangap1	RAN GTPase activating protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310381	Arsa	arylsulfatase A	gene	DOID:0060135	apraxia		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:11777924|PMID:11941485|PMID:1670590|PMID:20339381|PMID:25741868|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28492532|PMID:29915382|PMID:31186049|PMID:31967741|PMID:32632536|PMID:33855715|PMID:36100438|PMID:36240581|PMID:37212343|PMID:38330194|PMID:38564053|PMID:40751594|PMID:7866401|PMID:8095918|PMID:9090526|PMID:9096767
1310381	Arsa	arylsulfatase A	gene	DOID:0080855	Parkinsonism		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:11777924|PMID:11941485|PMID:1670590|PMID:20339381|PMID:25741868|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28492532|PMID:29915382|PMID:31186049|PMID:31967741|PMID:32632536|PMID:33855715|PMID:36100438|PMID:36240581|PMID:37212343|PMID:38330194|PMID:38564053|PMID:40751594|PMID:7866401|PMID:8095918|PMID:9090526|PMID:9096767
1310381	Arsa	arylsulfatase A	gene	DOID:10579	leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:11777924|PMID:11941485|PMID:1670590|PMID:20339381|PMID:25741868|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28492532|PMID:28762252|PMID:29915382|PMID:31186049|PMID:31967741|PMID:32632536|PMID:33855715|PMID:36100438|PMID:36240581|PMID:37212343|PMID:38330194|PMID:38564053|PMID:40751594|PMID:7866401|PMID:8095918|PMID:9090526|PMID:9096767
1310381	Arsa	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310381	Arsa	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:1358434|PMID:15026521	19990101	RGD			
1310381	Arsa	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:1358435|PMID:15375602	19990101	RGD			
1310381	Arsa	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:7240710	20130221	OMIM			
1310381	Arsa	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:31130284|PMID:31186049|PMID:31312839|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:31980526|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34490615|PMID:34554397|PMID:36240581|PMID:6122378|PMID:7581401|PMID:7649558|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
1310381	Arsa	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy variant | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:30834272|PMID:31069529|PMID:31130284|PMID:31186049|PMID:31312839|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:31980526|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:6122378|PMID:7581401|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
1310381	Arsa	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30652456|PMID:30674982|PMID:30828547|PMID:30834272|PMID:30967997|PMID:31069529|PMID:31130284|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31410132|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:31980526|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:37480112|PMID:6122378|PMID:7581401|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
1310381	Arsa	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30652456|PMID:30674982|PMID:30828547|PMID:30834272|PMID:30967997|PMID:31069529|PMID:31130284|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31410132|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:37480112|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
1310381	Arsa	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30652456|PMID:30674982|PMID:30828547|PMID:30834272|PMID:30967997|PMID:31069529|PMID:31130284|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31410132|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:37480112|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8558556|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
1310381	Arsa	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE A PSEUDODEFICIENCY | ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20220177|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29899471|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30652456|PMID:30674982|PMID:30828547|PMID:30834272|PMID:30967997|PMID:31069529|PMID:31130284|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31410132|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:32950023|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33505345|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:37381728|PMID:37480112|PMID:37597066|PMID:37848385|PMID:38458124|PMID:38775997|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8558556|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9375919|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
1310381	Arsa	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE A PSEUDODEFICIENCY | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20220177|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29899471|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30652456|PMID:30674982|PMID:30828547|PMID:30834272|PMID:30967997|PMID:31069529|PMID:31130284|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31410132|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:32950023|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33505345|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:35616356|PMID:36240581|PMID:36324388|PMID:37359369|PMID:37381728|PMID:37480112|PMID:37597066|PMID:37848385|PMID:38458124|PMID:38775997|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8558556|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9375919|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
1310381	Arsa	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE A PSEUDODEFICIENCY | ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Deficiency, Arylsulfatase A | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY, ADULT | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY, JUVENILE | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY, SEVERE | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type	PMID:10212197|PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12086582|PMID:12445909|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1673291|PMID:1678251|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25482214|PMID:25741868|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26075876|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29915382|PMID:29966168|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:30834272|PMID:31069529|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31418856|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32875726|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33726816|PMID:33855715|PMID:34055681|PMID:34276053|PMID:34490615|PMID:34554397|PMID:35616356|PMID:35857900|PMID:36100438|PMID:36240581|PMID:36324388|PMID:36918699|PMID:37212343|PMID:37267771|PMID:37359369|PMID:37381728|PMID:37480112|PMID:37597066|PMID:38330194|PMID:38564053|PMID:38693247|PMID:38775997|PMID:38837156|PMID:38916435|PMID:39473378|PMID:39766783|PMID:39806039|PMID:40055237|PMID:40063902|PMID:40751594|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7860068|PMID:7866401|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8558556|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9819708|PMID:9888390
1310381	Arsa	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE A PSEUDODEFICIENCY | ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Deficiency, Arylsulfatase A | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY, ADULT | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY, JUVENILE | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY, SEVERE | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type	PMID:10212197|PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1673291|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25482214|PMID:25525159|PMID:25741868|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26075876|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29915382|PMID:29966168|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:30834272|PMID:31069529|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33726816|PMID:33855715|PMID:34055681|PMID:34276053|PMID:34490615|PMID:34554397|PMID:35616356|PMID:35857900|PMID:36100438|PMID:36240581|PMID:36324388|PMID:36918699|PMID:37212343|PMID:37267771|PMID:37359369|PMID:37381728|PMID:37480112|PMID:37597066|PMID:38330194|PMID:38495240|PMID:38564053|PMID:38693247|PMID:38775997|PMID:38837156|PMID:38916435|PMID:39473378|PMID:39766783|PMID:39806039|PMID:40055237|PMID:40063902|PMID:40751594|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7860068|PMID:7866401|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8558556|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9819708|PMID:9888390
1310381	Arsa	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISS	RGD:1321257	D	RGD:13592920	20230718	MouseDO		OMIM:249900 | OMIM:250100	
1310381	Arsa	arylsulfatase A	gene	DOID:1059	intellectual disability		ISO	RGD:1321256	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:11777924|PMID:11941485|PMID:1670590|PMID:20339381|PMID:25741868|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28492532|PMID:29915382|PMID:31186049|PMID:31967741|PMID:32632536|PMID:33855715|PMID:36100438|PMID:36240581|PMID:37212343|PMID:38330194|PMID:38564053|PMID:40751594|PMID:7866401|PMID:8095918|PMID:9090526|PMID:9096767
1310381	Arsa	arylsulfatase A	gene	DOID:10907	microcephaly		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	PMID:25741868|PMID:28492532|PMID:28799099|PMID:35616356|PMID:37359369
1310381	Arsa	arylsulfatase A	gene	DOID:1115	sarcoma		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310381	Arsa	arylsulfatase A	gene	DOID:11830	myopia		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:15026521|PMID:25741868|PMID:28492532
1310381	Arsa	arylsulfatase A	gene	DOID:1459	hypothyroidism		IDA		D	RGD:1599223|PMID:7901316	20070122	RGD			
1310381	Arsa	arylsulfatase A	gene	DOID:1826	epilepsy		ISO	RGD:1321256	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11777924|PMID:11941485|PMID:1670590|PMID:20339381|PMID:25741868|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28492532|PMID:28799099|PMID:29915382|PMID:31186049|PMID:31967741|PMID:32632536|PMID:33855715|PMID:35616356|PMID:36100438|PMID:36240581|PMID:37212343|PMID:37359369|PMID:38330194|PMID:38564053|PMID:40751594|PMID:7866401|PMID:8095918|PMID:9090526|PMID:9096767
1310381	Arsa	arylsulfatase A	gene	DOID:1909	melanoma		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310381	Arsa	arylsulfatase A	gene	DOID:1969	cerebral palsy		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532
1310381	Arsa	arylsulfatase A	gene	DOID:3211	lysosomal storage disease		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lysosomal storage disease	PMID:16678723|PMID:17560502|PMID:19815439|PMID:26462614|PMID:28492532|PMID:7866401
1310381	Arsa	arylsulfatase A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310381	Arsa	arylsulfatase A	gene	DOID:4362	cervical cancer		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310381	Arsa	arylsulfatase A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310381	Arsa	arylsulfatase A	gene	DOID:630	genetic disease		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310381	Arsa	arylsulfatase A	gene	DOID:870	neuropathy		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:28492532|PMID:28762252|PMID:9090526
1310381	Arsa	arylsulfatase A	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:28492532
1310381	Arsa	arylsulfatase A	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1321256	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:11777924|PMID:11941485|PMID:1670590|PMID:20339381|PMID:25741868|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28492532|PMID:29915382|PMID:31186049|PMID:31967741|PMID:32632536|PMID:33855715|PMID:36100438|PMID:36240581|PMID:37212343|PMID:38330194|PMID:38564053|PMID:40751594|PMID:7866401|PMID:8095918|PMID:9090526|PMID:9096767
1310381	Arsa	arylsulfatase A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:15026521|PMID:25741868|PMID:28492532|PMID:28762252|PMID:9090526
1310381	Arsa	arylsulfatase A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:10477432|PMID:10751093|PMID:12445909|PMID:12809638|PMID:1284530|PMID:15720392|PMID:16546179|PMID:16966551|PMID:25741868|PMID:25965562|PMID:28492532|PMID:8982952
1310381	Arsa	arylsulfatase A	gene	DOID:9003507	Premature Birth		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:15026521|PMID:25741868|PMID:28492532
1310381	Arsa	arylsulfatase A	gene	DOID:9004866	Ataxia		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532
1310381	Arsa	arylsulfatase A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:15026521|PMID:25741868|PMID:28492532
1310381	Arsa	arylsulfatase A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310381	Arsa	arylsulfatase A	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:10477432|PMID:10751093|PMID:12445909|PMID:12809638|PMID:1284530|PMID:15720392|PMID:16546179|PMID:16966551|PMID:25741868|PMID:25965562|PMID:28492532|PMID:8982952
1310381	Arsa	arylsulfatase A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1321256	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28492532|PMID:28799099|PMID:35616356|PMID:37359369
1310381	Arsa	arylsulfatase A	gene	DOID:9007448	Autosomal Sideroblastic Anemia		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia	PMID:25741868|PMID:26553228|PMID:37597066
1310381	Arsa	arylsulfatase A	gene	DOID:9007661	Dwarfism		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10477432|PMID:10751093|PMID:12445909|PMID:12809638|PMID:1284530|PMID:15720392|PMID:16546179|PMID:16966551|PMID:25741868|PMID:25965562|PMID:28492532|PMID:8982952
1310381	Arsa	arylsulfatase A	gene	DOID:9008023	Memory Disorders		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:11777924|PMID:11941485|PMID:1670590|PMID:20339381|PMID:25741868|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28492532|PMID:29915382|PMID:31186049|PMID:31967741|PMID:32632536|PMID:33855715|PMID:36100438|PMID:36240581|PMID:37212343|PMID:38330194|PMID:38564053|PMID:40751594|PMID:7866401|PMID:8095918|PMID:9090526|PMID:9096767
1310381	Arsa	arylsulfatase A	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:10477432|PMID:12809637|PMID:1353340|PMID:16678723|PMID:18693274|PMID:18786133|PMID:19606494|PMID:23559313|PMID:25741868|PMID:25965562|PMID:26131420|PMID:26462614|PMID:28492532|PMID:31694723|PMID:33855715
1310381	Arsa	arylsulfatase A	gene	DOID:9256	colorectal cancer		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310382	Cd163	CD163 molecule	gene	DOID:0050120	hemophagocytic lymphohistiocytosis		ISO	RGD:1321258	D	RGD:127285796|PMID:15613100	20210630	RGD		protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310382	Cd163	CD163 molecule	gene	DOID:0050523	adult T-cell leukemia/lymphoma	disease_progression	ISO	RGD:1321258	D	RGD:42721976|PMID:23557330	20210225	RGD		protein:increased expression:lymph node tumor (human)	
1310382	Cd163	CD163 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310382	Cd163	CD163 molecule	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	exacerbates	ISO	RGD:1321258	D	RGD:127345132|PMID:31027316	20210709	RGD		protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:0080600	COVID-19		ISO	RGD:1321258	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310382	Cd163	CD163 molecule	gene	DOID:0080711	multisystem inflammatory syndrome in children		ISO	RGD:1321258	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children	
1310382	Cd163	CD163 molecule	gene	DOID:0081292	traumatic brain injury		IEP		D	RGD:127285798|PMID:22583855	20210630	RGD		protein:increased expression:brain, macrophage (rat)	
1310382	Cd163	CD163 molecule	gene	DOID:10534	stomach cancer		ISO	RGD:1321258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310382	Cd163	CD163 molecule	gene	DOID:10887	lepromatous leprosy		ISO	RGD:1321258	D	RGD:39939078|PMID:22851198	20210628	RGD		protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:10887	lepromatous leprosy	exacerbates	ISO	RGD:1321258	D	RGD:127345133|PMID:28355218	20210709	RGD		protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:11077	brucellosis	treatment	ISO	RGD:1321258	D	RGD:149735531|PMID:32069255	20210721	RGD			
1310382	Cd163	CD163 molecule	gene	DOID:11266	Hantavirus hemorrhagic fever with renal syndrome	exacerbates	ISO	RGD:1321258	D	RGD:127285679|PMID:25789628	20210628	RGD		protein:increased expression:blood plasma (human)	
1310382	Cd163	CD163 molecule	gene	DOID:11266	Hantavirus hemorrhagic fever with renal syndrome	exacerbates	ISO	RGD:1321258	D	RGD:127285683|PMID:29857122	20210628	RGD		protein:increased expression:CD14-positive monocyte (human)	
1310382	Cd163	CD163 molecule	gene	DOID:11266	Hantavirus hemorrhagic fever with renal syndrome	exacerbates	ISO	RGD:1321258	D	RGD:127345131|PMID:25392926	20210709	RGD		protein:increased expression:CD14-positive, CD16-positive monocyte, blood plasma (human)	
1310382	Cd163	CD163 molecule	gene	DOID:12365	malaria	exacerbates	ISO	RGD:1321258	D	RGD:127285797|PMID:22290142	20210630	RGD		protein:increased expression:blood plasma (human)	
1310382	Cd163	CD163 molecule	gene	DOID:12365	malaria	severity	ISO	RGD:1321258	D	RGD:149735529|PMID:18632918	20210721	RGD		protein:altered expression:blood plasma (human)	
1310382	Cd163	CD163 molecule	gene	DOID:13141	uveitis		IEP		D	RGD:2312506|PMID:19347047	20210630	RGD		associated with Endotoxemia;protein:increased expression:iris (rat)	
1310382	Cd163	CD163 molecule	gene	DOID:1324	lung cancer		ISO	RGD:1321258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310382	Cd163	CD163 molecule	gene	DOID:13254	diverticulitis of colon	exacerbates	ISO	RGD:1321258	D	RGD:40925945|PMID:21553154	20210628	RGD		protein:increased expression:sigmoid colon (human)	
1310382	Cd163	CD163 molecule	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1321258	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
1310382	Cd163	CD163 molecule	gene	DOID:1909	melanoma		ISO	RGD:1321258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310382	Cd163	CD163 molecule	gene	DOID:2018	hyperinsulinism		ISO	RGD:1321258	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
1310382	Cd163	CD163 molecule	gene	DOID:2280	hidradenitis suppurativa		ISO	RGD:1321258	D	RGD:127285799|PMID:29603182	20210630	RGD		protein:increased expression:dermis (human)	
1310382	Cd163	CD163 molecule	gene	DOID:2394	ovarian cancer	ameliorates	ISO	RGD:1321259	D	RGD:149735527|PMID:31951251	20210721	RGD			
1310382	Cd163	CD163 molecule	gene	DOID:2913	acute pancreatitis		ISO	RGD:1321258	D	RGD:11251207|PMID:26339412	20210727	RGD		associated with liver disease;protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:2921	glomerulonephritis		ISO	RGD:1321258	D	RGD:11251207|PMID:26339412	20210727	RGD		associated with liver disease;protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:2938	Epstein-Barr virus infectious disease		ISO	RGD:1321258	D	RGD:40925915|PMID:21602260	20210709	RGD		associated with Hodgkin's lymphoma;protein:increased expression:macrophage (human)	
1310382	Cd163	CD163 molecule	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1321258	D	RGD:127285801|PMID:27685837	20210630	RGD		protein:increased expression:blood plasma, CD14-positive monocyte (human)	
1310382	Cd163	CD163 molecule	gene	DOID:2957	pulmonary tuberculosis	exacerbates	ISO	RGD:1321258	D	RGD:127345136|PMID:27684274	20210709	RGD		protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1321258	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
1310382	Cd163	CD163 molecule	gene	DOID:3407	carotid artery disease		ISO	RGD:1321258	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17095719
1310382	Cd163	CD163 molecule	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1321258	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
1310382	Cd163	CD163 molecule	gene	DOID:4195	hyperglycemia		ISO	RGD:1321258	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
1310382	Cd163	CD163 molecule	gene	DOID:4325	Ebola virus disease	exacerbates	ISO	RGD:1321258	D	RGD:149735528|PMID:30666927	20210721	RGD		protein:increased expression:blood plasma (human)	
1310382	Cd163	CD163 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1321258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310382	Cd163	CD163 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321258	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310382	Cd163	CD163 molecule	gene	DOID:5082	liver cirrhosis		ISO	RGD:1321258	D	RGD:11251207|PMID:26339412	20210727	RGD		protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:5082	liver cirrhosis	exacerbates	ISO	RGD:1321258	D	RGD:127285681|PMID:24623375	20210628	RGD		associated with Chronic Hepatitis B, Chronic Hepatitis C;protein:increased expression:blood plasma (human)	
1310382	Cd163	CD163 molecule	gene	DOID:526	human immunodeficiency virus infectious disease	exacerbates	ISO	RGD:1321258	D	RGD:127285682|PMID:23916293	20210628	RGD		protein:increased expression:blood plasma (human)	
1310382	Cd163	CD163 molecule	gene	DOID:526	human immunodeficiency virus infectious disease	treatment	ISO	RGD:1321258	D	RGD:149735575|PMID:24594990	20210727	RGD			
1310382	Cd163	CD163 molecule	gene	DOID:552	pneumonia		ISO	RGD:1321258	D	RGD:11251207|PMID:26339412	20210727	RGD		associated with liver disease;protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310382	Cd163	CD163 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310382	Cd163	CD163 molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321258	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310382	Cd163	CD163 molecule	gene	DOID:8476	Whipple disease		ISO	RGD:1321258	D	RGD:149735573|PMID:19664628	20210727	RGD		protein:increased expression:duodenum, macrophage (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9000238	Acute-On-Chronic Liver Failure	exacerbates	ISO	RGD:1321258	D	RGD:127285680|PMID:23687420	20210628	RGD		associated with Chronic Hepatitis B;protein:increased expression:blood plasma (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9000684	Porcine Reproductive and Respiratory Syndrome	ameliorates	ISO	RGD:1603525	D	RGD:9068941	20210702	RGD			PMID:30745836|REF_RGD_ID:127285677
1310382	Cd163	CD163 molecule	gene	DOID:9000684	Porcine Reproductive and Respiratory Syndrome	susceptibility	ISO	RGD:14034736	D	RGD:9068941	20210702	RGD			PMID:27847356|PMID:31440241|REF_RGD_ID:127285645|REF_RGD_ID:127285676
1310382	Cd163	CD163 molecule	gene	DOID:9001553	Spinal Cord Compression	disease_progression	IEP		D	RGD:149735576|PMID:23775900	20210727	RGD		protein:increased expression:gray matter of spinal cord, white matter of spinal cord (rat)	
1310382	Cd163	CD163 molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1321258	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310382	Cd163	CD163 molecule	gene	DOID:9002011	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9	exacerbates	ISO	RGD:1321258	D	RGD:127345135|PMID:23149357	20210709	RGD		associated with Human Influenza;protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1321258	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1310382	Cd163	CD163 molecule	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis	exacerbates	ISO	RGD:1321258	D	RGD:127285685|PMID:27094919	20210628	RGD		protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9004017	Chronic Hepatitis C	exacerbates	ISO	RGD:1321258	D	RGD:149735574|PMID:26554542	20210727	RGD		protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9004484	Sepsis		ISO	RGD:1321258	D	RGD:127285802|PMID:24637679	20210630	RGD		protein:increased expression:blood serum, CD-14 positive monocyte (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:1321258	D	RGD:127345132|PMID:31027316	20210709	RGD		protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310382	Cd163	CD163 molecule	gene	DOID:9007041	Actinobacillus Infections		ISO	RGD:14034736	D	RGD:9068941	20210709	RGD		protein:increased expression:lung (pig)	PMID:33287430|REF_RGD_ID:127345134
1310382	Cd163	CD163 molecule	gene	DOID:9007329	Human Viral Hepatitis		ISO	RGD:1321258	D	RGD:149735532|PMID:31687981	20210721	RGD		associated with human immunodeficiency virus infectious disease, opioid abuse;protein:increased expression:blood plasma (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1321258	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
1310382	Cd163	CD163 molecule	gene	DOID:9007692	Insulin Resistance	exacerbates	ISO	RGD:1321258	D	RGD:149735574|PMID:26554542	20210727	RGD		associated with hepatitis C, human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9007772	Abdominal Obesity	exacerbates	ISO	RGD:1321258	D	RGD:127345132|PMID:31027316	20210709	RGD		protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9007874	Liver Failure		ISO	RGD:1321258	D	RGD:11251207|PMID:26339412	20210727	RGD		protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9007874	Liver Failure		ISO	RGD:1321258	D	RGD:127285684|PMID:24597777	20210628	RGD		associated with hepatitis B;protein:increased expression:liver, peripheral blood mononuclear cell (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1321258	D	RGD:11251207|PMID:26339412	20210727	RGD		protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9008885	Staphylococcal Infections	exacerbates	ISO	RGD:1321259	D	RGD:127285678|PMID:32199911	20210628	RGD			
1310382	Cd163	CD163 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310382	Cd163	CD163 molecule	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1321258	D	RGD:127345130|PMID:32023254	20210709	RGD		mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9146	visceral leishmaniasis	exacerbates	ISO	RGD:1321258	D	RGD:127345133|PMID:28355218	20210709	RGD		protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9256	colorectal cancer		ISO	RGD:1321258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310382	Cd163	CD163 molecule	gene	DOID:9261	nasopharynx carcinoma	exacerbates	ISO	RGD:1321258	D	RGD:127285800|PMID:28395580	20210630	RGD		protein:increased expression:nasopharynx, macrophage (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9452	steatotic liver disease		ISO	RGD:1321258	D	RGD:11251207|PMID:26339412	20210727	RGD		associated with hepatitis B;protein:increased expression:blood serum (human)	
1310382	Cd163	CD163 molecule	gene	DOID:9970	obesity		ISO	RGD:1321258	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
1310383	Pptc7	protein phosphatase targeting COQ7	gene	DOID:1115	sarcoma		ISO	RGD:1604734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310383	Pptc7	protein phosphatase targeting COQ7	gene	DOID:1324	lung cancer		ISO	RGD:1604734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310383	Pptc7	protein phosphatase targeting COQ7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310383	Pptc7	protein phosphatase targeting COQ7	gene	DOID:4362	cervical cancer		ISO	RGD:1604734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310383	Pptc7	protein phosphatase targeting COQ7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310383	Pptc7	protein phosphatase targeting COQ7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1604734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1310383	Pptc7	protein phosphatase targeting COQ7	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1604734	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1310383	Pptc7	protein phosphatase targeting COQ7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1321262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:12849	autistic disorder		ISO	RGD:1321262	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1321262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:1909	melanoma		ISO	RGD:1321262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:3275	thymoma		ISO	RGD:1321262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321262	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310385	Arap1	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310386	Ublcp1	ubiquitin-like domain containing CTD phosphatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310386	Ublcp1	ubiquitin-like domain containing CTD phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310386	Ublcp1	ubiquitin-like domain containing CTD phosphatase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310386	Ublcp1	ubiquitin-like domain containing CTD phosphatase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310386	Ublcp1	ubiquitin-like domain containing CTD phosphatase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605293	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310386	Ublcp1	ubiquitin-like domain containing CTD phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310386	Ublcp1	ubiquitin-like domain containing CTD phosphatase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310386	Ublcp1	ubiquitin-like domain containing CTD phosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310386	Ublcp1	ubiquitin-like domain containing CTD phosphatase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605293	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1310387	Asb13	ankyrin repeat and SOCS box-containing 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310387	Asb13	ankyrin repeat and SOCS box-containing 13	gene	DOID:10534	stomach cancer		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310387	Asb13	ankyrin repeat and SOCS box-containing 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310387	Asb13	ankyrin repeat and SOCS box-containing 13	gene	DOID:1324	lung cancer		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310387	Asb13	ankyrin repeat and SOCS box-containing 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310387	Asb13	ankyrin repeat and SOCS box-containing 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1321264	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310387	Asb13	ankyrin repeat and SOCS box-containing 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310387	Asb13	ankyrin repeat and SOCS box-containing 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310387	Asb13	ankyrin repeat and SOCS box-containing 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310388	Sap18	Sin3A associated protein 18	gene	DOID:10534	stomach cancer		ISO	RGD:1321265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310388	Sap18	Sin3A associated protein 18	gene	DOID:6039	uveal melanoma		ISO	RGD:1321265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310388	Sap18	Sin3A associated protein 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310388	Sap18	Sin3A associated protein 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1321266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1321266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:3070	high grade glioma		ISO	RGD:1321266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1321266	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: Hepatoma	
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:9006582	Oculoskeletodental Syndrome		ISO	RGD:1321266	D	RGD:7240710	20190626	OMIM			
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:9006582	Oculoskeletodental Syndrome		ISO	RGD:1321266	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: OCULOSKELETODENTAL SYNDROME | ClinVar Annotator: match by term: PIK3C2A-related condition	PMID:25741868|PMID:28492532|PMID:31034465
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:9007661	Dwarfism		ISO	RGD:1321266	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310389	Pik3c2a	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1321266	D	RGD:7243008|PMID:21127054	20130430	RGD		mRNA:decreased expression:Islets of Langerhans	
1310390	Phf19	PHD finger protein 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310390	Phf19	PHD finger protein 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310390	Phf19	PHD finger protein 19	gene	DOID:10534	stomach cancer		ISO	RGD:1321268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310390	Phf19	PHD finger protein 19	gene	DOID:1115	sarcoma		ISO	RGD:1321268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310390	Phf19	PHD finger protein 19	gene	DOID:1324	lung cancer		ISO	RGD:1321268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310390	Phf19	PHD finger protein 19	gene	DOID:1909	melanoma		ISO	RGD:1321268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310390	Phf19	PHD finger protein 19	gene	DOID:3275	thymoma		ISO	RGD:1321268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310390	Phf19	PHD finger protein 19	gene	DOID:4362	cervical cancer		ISO	RGD:1321268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310390	Phf19	PHD finger protein 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310390	Phf19	PHD finger protein 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310390	Phf19	PHD finger protein 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310391	Lgi2	leucine-rich repeat LGI family, member 2	gene	DOID:1826	epilepsy		ISO	RGD:12056737	D	RGD:9068941	20250116	OMIA		Epilepsy, benign familial juvenile, LGI2-related	PMID:17552452|PMID:21829378|PMID:23683021|PMID:24070682|PMID:25945683|PMID:26931499|PMID:37582787|PMID:38003185|PMID:39651629
1310392	Bend6	BEN domain containing 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310392	Bend6	BEN domain containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310395	Cavin4	caveolae associated protein 4	gene	DOID:1909	melanoma		ISO	RGD:1606650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310395	Cavin4	caveolae associated protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310396	Uros	uroporphyrinogen III synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310396	Uros	uroporphyrinogen III synthase	gene	DOID:10534	stomach cancer		ISO	RGD:1321278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1310396	Uros	uroporphyrinogen III synthase	gene	DOID:1324	lung cancer		ISO	RGD:1321278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1310396	Uros	uroporphyrinogen III synthase	gene	DOID:13271	cutaneous porphyria		ISO	RGD:1321278	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310396	Uros	uroporphyrinogen III synthase	gene	DOID:13271	cutaneous porphyria		ISO	RGD:1321278	D	RGD:1599715|PMID:2331520	20070213	RGD			
1310396	Uros	uroporphyrinogen III synthase	gene	DOID:13271	cutaneous porphyria		ISO	RGD:1321278	D	RGD:7240710	20130221	OMIM			
1310396	Uros	uroporphyrinogen III synthase	gene	DOID:13271	cutaneous porphyria		ISO	RGD:1321278	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cutaneous porphyria | ClinVar Annotator: match by term: PORPHYRIA, CONGENITAL ERYTHROPOIETIC | ClinVar Annotator: match by term: UROS DEFICIENCY | ClinVar Annotator: match by term: UROS-related condition | ClinVar Annotator: match by term: cutaneous porphyria	PMID:11254675|PMID:12060112|PMID:12060141|PMID:15065102|PMID:15304101|PMID:16365260|PMID:16532394|PMID:1733834|PMID:1737856|PMID:19099412|PMID:21343304|PMID:21365124|PMID:21570665|PMID:22816431|PMID:2331520|PMID:23557135|PMID:23626549|PMID:25092523|PMID:25741868|PMID:27859603|PMID:28334762|PMID:28492532|PMID:30685241|PMID:30706587|PMID:31843562|PMID:33726816|PMID:34828434|PMID:38255745|PMID:38577034|PMID:7860775|PMID:8821859|PMID:8946173|PMID:9188670|PMID:9803266
1310396	Uros	uroporphyrinogen III synthase	gene	DOID:13271	cutaneous porphyria		ISS	RGD:1321279	D	RGD:13592920	20230718	MouseDO		OMIM:263700	
1310396	Uros	uroporphyrinogen III synthase	gene	DOID:13271	cutaneous porphyria	susceptibility	IAGP		D	RGD:18937001|PMID:30454868	20200128	RGD		DNA:missense mutations,SNP,deletion:cds,introns:multiple	
1310396	Uros	uroporphyrinogen III synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:1321278	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1310396	Uros	uroporphyrinogen III synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310396	Uros	uroporphyrinogen III synthase	gene	DOID:630	genetic disease		ISO	RGD:1321278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310396	Uros	uroporphyrinogen III synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1310396	Uros	uroporphyrinogen III synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1310397	Sdk2	sidekick cell adhesion molecule 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310397	Sdk2	sidekick cell adhesion molecule 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310397	Sdk2	sidekick cell adhesion molecule 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310397	Sdk2	sidekick cell adhesion molecule 2	gene	DOID:1115	sarcoma		ISO	RGD:1321280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310397	Sdk2	sidekick cell adhesion molecule 2	gene	DOID:1909	melanoma		ISO	RGD:1321280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310397	Sdk2	sidekick cell adhesion molecule 2	gene	DOID:3275	thymoma		ISO	RGD:1321280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310397	Sdk2	sidekick cell adhesion molecule 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310397	Sdk2	sidekick cell adhesion molecule 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310397	Sdk2	sidekick cell adhesion molecule 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321280	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310397	Sdk2	sidekick cell adhesion molecule 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310397	Sdk2	sidekick cell adhesion molecule 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310397	Sdk2	sidekick cell adhesion molecule 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310397	Sdk2	sidekick cell adhesion molecule 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310398	Ankrd23	ankyrin repeat domain 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310398	Ankrd23	ankyrin repeat domain 23	gene	DOID:10534	stomach cancer		ISO	RGD:1321281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310398	Ankrd23	ankyrin repeat domain 23	gene	DOID:1324	lung cancer		ISO	RGD:1321281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310398	Ankrd23	ankyrin repeat domain 23	gene	DOID:4362	cervical cancer		ISO	RGD:1321281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310398	Ankrd23	ankyrin repeat domain 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310398	Ankrd23	ankyrin repeat domain 23	gene	DOID:6000	congestive heart failure		ISO	RGD:1321281	D	RGD:2314858|PMID:15238456	20091201	RGD		associated with Cardiomyopathy, Congestive	
1310398	Ankrd23	ankyrin repeat domain 23	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310398	Ankrd23	ankyrin repeat domain 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310398	Ankrd23	ankyrin repeat domain 23	gene	DOID:9352	type 2 diabetes mellitus		IEP		D	RGD:2314859|PMID:12456686	20110311	RGD		RNA:altered expression:heart, brown adipose tissue, skeletal muscle tissue	
1310398	Ankrd23	ankyrin repeat domain 23	gene	DOID:9775	diastolic heart failure		ISO	RGD:1321281	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1310400	Terb1	telomere repeat binding bouquet formation protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310400	Terb1	telomere repeat binding bouquet formation protein 1	gene	DOID:0112355	spermatogenic failure 60		ISO	RGD:1605833	D	RGD:7240710	20211222	OMIM			
1310400	Terb1	telomere repeat binding bouquet formation protein 1	gene	DOID:0112355	spermatogenic failure 60		ISO	RGD:1605833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 60	PMID:25741868
1310400	Terb1	telomere repeat binding bouquet formation protein 1	gene	DOID:14227	azoospermia		ISO	RGD:1605833	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Azoospermia	
1310400	Terb1	telomere repeat binding bouquet formation protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310400	Terb1	telomere repeat binding bouquet formation protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310400	Terb1	telomere repeat binding bouquet formation protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310402	Tns4	tensin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310402	Tns4	tensin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310402	Tns4	tensin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310402	Tns4	tensin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310402	Tns4	tensin 4	gene	DOID:1324	lung cancer		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310402	Tns4	tensin 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310402	Tns4	tensin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310402	Tns4	tensin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1605916	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310402	Tns4	tensin 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310402	Tns4	tensin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310402	Tns4	tensin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310402	Tns4	tensin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1321287	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		ISO	RGD:1321287	D	RGD:10395280|PMID:23455423	20150827	RGD		DNA:missense mutation:cds:p.D290V (human)	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		ISO	RGD:1321287	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0060058	lymphoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2		ISO	RGD:1321287	D	RGD:7240710	20190315	OMIM			
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2		ISO	RGD:1321287	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2	PMID:11891683|PMID:16199547|PMID:17576681|PMID:23455423|PMID:25741868|PMID:28389692|PMID:28492532|PMID:29358076|PMID:9536098
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2		ISO	RGD:1321287	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HNRNPA2B1-related condition | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2	PMID:16199547|PMID:17576681|PMID:25741868|PMID:27990297|PMID:28389692|PMID:28492532|PMID:29358076|PMID:35484142|PMID:9536098
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:10534	stomach cancer		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1321287	D	RGD:9999191|PMID:22628224	20150410	RGD		protein:decreased expression:entorhinal cortex (human)	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:1115	sarcoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:1909	melanoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:10041006|PMID:20421594	20150507	RGD		protein:altered expression:cerebral cortex, hippocampus (rat)	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:3275	thymoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1321287	D	RGD:9685413|PMID:2846790	20150107	RGD		antibody 703D4 recognizes Hnrnpa2b1 protein (RGD:9685415);protein:increased expression:sputum (human)	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:4905	pancreatic carcinoma	severity	IEP		D	RGD:9587766|PMID:21472101	20150507	RGD		protein:increased expression:pancreas (rat)	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321287	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:630	genetic disease		ISO	RGD:1321287	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:684	hepatocellular carcinoma		IEP		D	RGD:9685423|PMID:23633480	20150107	RGD		mRNA:increased expression:liver (rat)	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321287	D	RGD:9685422|PMID:20604928	20150107	RGD		protein:increased expression:liver (human)	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:7148	rheumatoid arthritis	severity	IDA		D	RGD:9685481|PMID:18025202	20150113	RGD			
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9000844	Oculopharyngeal Muscular Dystrophy 2		ISO	RGD:1321287	D	RGD:7240710	20230809	OMIM			
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9000844	Oculopharyngeal Muscular Dystrophy 2		ISO	RGD:1321287	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 | ClinVar Annotator: match by term: Oculopharyngeal muscular dystrophy 2	PMID:25741868|PMID:28492532|PMID:35484142
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:9685410|PMID:18337374	20150107	RGD		protein:increased expression:urinary bladder (rat)	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310403	Hnrnpa2b1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1321287	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:23455423|PMID:25741868
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:0060058	lymphoma		ISO	RGD:1321293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:0070676	autosomal recessive nonsyndromic deafness 124		ISO	RGD:1321293	D	RGD:7240710	20240515	OMIM			
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:0070676	autosomal recessive nonsyndromic deafness 124		ISO	RGD:1321293	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 | ClinVar Annotator: match by term: PKHD1L1-related disorder	PMID:25741868
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1321293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:1909	melanoma		ISO	RGD:1321293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1321293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:3275	thymoma		ISO	RGD:1321293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321293	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310406	Pkhd1l1	PKHD1 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310409	Ttc23	tetratricopeptide repeat domain 23	gene	DOID:10534	stomach cancer		ISO	RGD:1601741	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310409	Ttc23	tetratricopeptide repeat domain 23	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310409	Ttc23	tetratricopeptide repeat domain 23	gene	DOID:1324	lung cancer		ISO	RGD:1601741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310409	Ttc23	tetratricopeptide repeat domain 23	gene	DOID:4501	orofaciodigital syndrome		ISO	RGD:1601741	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Orofaciodigital syndrome	
1310409	Ttc23	tetratricopeptide repeat domain 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310409	Ttc23	tetratricopeptide repeat domain 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310409	Ttc23	tetratricopeptide repeat domain 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310409	Ttc23	tetratricopeptide repeat domain 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310409	Ttc23	tetratricopeptide repeat domain 23	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310411	Usp47	ubiquitin specific peptidase 47	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310411	Usp47	ubiquitin specific peptidase 47	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310411	Usp47	ubiquitin specific peptidase 47	gene	DOID:10534	stomach cancer		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310411	Usp47	ubiquitin specific peptidase 47	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310411	Usp47	ubiquitin specific peptidase 47	gene	DOID:1115	sarcoma		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310411	Usp47	ubiquitin specific peptidase 47	gene	DOID:1324	lung cancer		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310411	Usp47	ubiquitin specific peptidase 47	gene	DOID:1909	melanoma		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310411	Usp47	ubiquitin specific peptidase 47	gene	DOID:4362	cervical cancer		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310411	Usp47	ubiquitin specific peptidase 47	gene	DOID:5041	esophageal cancer		ISO	RGD:1321301	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310411	Usp47	ubiquitin specific peptidase 47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310411	Usp47	ubiquitin specific peptidase 47	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310411	Usp47	ubiquitin specific peptidase 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310411	Usp47	ubiquitin specific peptidase 47	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310411	Usp47	ubiquitin specific peptidase 47	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310412	Zfp641	zinc finger protein 641	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310412	Zfp641	zinc finger protein 641	gene	DOID:4362	cervical cancer		ISO	RGD:1606174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310412	Zfp641	zinc finger protein 641	gene	DOID:5041	esophageal cancer		ISO	RGD:1606174	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310412	Zfp641	zinc finger protein 641	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310412	Zfp641	zinc finger protein 641	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310413	Sirt4	sirtuin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310413	Sirt4	sirtuin 4	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		IEP		D	RGD:9586052|PMID:20651844	20140925	RGD			
1310413	Sirt4	sirtuin 4	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:1321303	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:27099261
1310413	Sirt4	sirtuin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310413	Sirt4	sirtuin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310413	Sirt4	sirtuin 4	gene	DOID:9001981	Weight Loss		ISO	RGD:1321303	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: therapeutic	PMID:35134463
1310413	Sirt4	sirtuin 4	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1321303	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:27099261
1310413	Sirt4	sirtuin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310413	Sirt4	sirtuin 4	gene	DOID:9007692	Insulin Resistance		IEP		D	RGD:9586052|PMID:20651844	20140925	RGD			
1310413	Sirt4	sirtuin 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:0081204	autosomal recessive intellectual developmental disorder 39		ISO	RGD:1604785	D	RGD:7240710	20140911	OMIM			
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:0081204	autosomal recessive intellectual developmental disorder 39		ISO	RGD:1604785	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 39 | ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | ClinVar Annotator: match by term: TTI2-related condition	PMID:21937992|PMID:23956177|PMID:25741868|PMID:28492532|PMID:31290144|PMID:31737043|PMID:32061250|PMID:33176815
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1604785	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1604785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	PMID:31290144
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1604785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:10907	microcephaly		ISO	RGD:1604785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:12639	pyloric stenosis		ISO	RGD:1604785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pyloric stenosis	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1604785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1604785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1604785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:3275	thymoma		ISO	RGD:1604785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:540	strabismus		ISO	RGD:1604785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:630	genetic disease		ISO	RGD:1604785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1604785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonary valve stenosis	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1604785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1310414	Tti2	TELO2 interacting protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310416	Zfp358	zinc finger protein 358	gene	DOID:10534	stomach cancer		ISO	RGD:1321306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1321308	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short ribs | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:16199547|PMID:17024374|PMID:19251731|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1321308	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:23169490|PMID:29620724|PMID:34645488
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321308	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:0110085	asphyxiating thoracic dystrophy 1		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome	PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:0111571	Weyers acrofacial dysostosis		ISO	RGD:1321308	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:0111571	Weyers acrofacial dysostosis		ISO	RGD:1321308	D	RGD:7240710	20150513	OMIM			
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:0111571	Weyers acrofacial dysostosis		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS | ClinVar Annotator: match by term: WEYERS ACROFACIAL DYSOSTOSIS	PMID:12468274|PMID:12571802|PMID:16199547|PMID:16404586|PMID:17024374|PMID:17576681|PMID:18182642|PMID:19251731|PMID:19810119|PMID:19876929|PMID:21815252|PMID:22406498|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25500235|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26580685|PMID:26748586|PMID:27168972|PMID:28492532|PMID:29068549|PMID:30881389|PMID:31645978|PMID:32369273|PMID:33057194|PMID:33448881|PMID:35927022|PMID:37107645|PMID:38531627|PMID:9536098
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:0111571	Weyers acrofacial dysostosis		ISO	RGD:1321308	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS | ClinVar Annotator: match by term: WEYERS ACROFACIAL DYSOSTOSIS	PMID:12468274|PMID:12571802|PMID:16199547|PMID:17024374|PMID:17576681|PMID:19251731|PMID:19810119|PMID:19876929|PMID:21815252|PMID:22406498|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25500235|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26580685|PMID:26748586|PMID:27168972|PMID:28492532|PMID:29068549|PMID:30881389|PMID:31645978|PMID:32369273|PMID:33057194|PMID:33448881|PMID:35927022|PMID:37107645|PMID:38531627|PMID:9536098
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:0111571	Weyers acrofacial dysostosis		ISO	RGD:1321308	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS | ClinVar Annotator: match by term: WEYERS ACROFACIAL DYSOSTOSIS	PMID:12468274|PMID:12571802|PMID:16199547|PMID:17024374|PMID:17576681|PMID:19251731|PMID:19810119|PMID:19876929|PMID:20184732|PMID:21815252|PMID:22406498|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25500235|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26580685|PMID:26748586|PMID:27168972|PMID:28492532|PMID:29068549|PMID:30881389|PMID:31645978|PMID:32369273|PMID:33057194|PMID:33448881|PMID:35927022|PMID:37107645|PMID:38531627|PMID:9536098
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:12714	Ellis-Van Creveld syndrome		ISO	RGD:1321308	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:12714	Ellis-Van Creveld syndrome		ISO	RGD:1321308	D	RGD:7240710	20130221	OMIM			
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:12714	Ellis-Van Creveld syndrome		ISO	RGD:1321308	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Chondroectodermal dysplasia | ClinVar Annotator: match by term: ELLIS-VAN CREVELD SYNDROME | ClinVar Annotator: match by term: Ellis-van Creveld syndrome | ClinVar Annotator: match by term: Mesoectodermal dysplasia	PMID:12468274|PMID:12571802|PMID:16199547|PMID:17024374|PMID:17576681|PMID:19251731|PMID:19810119|PMID:19876929|PMID:20184732|PMID:21199751|PMID:21815252|PMID:22406498|PMID:23026208|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25500235|PMID:25525159|PMID:25741868|PMID:26064711|PMID:26580685|PMID:26748586|PMID:26818569|PMID:27168972|PMID:27280866|PMID:28492532|PMID:29068549|PMID:29321360|PMID:29456477|PMID:32369273|PMID:33057194|PMID:33448881|PMID:35927022|PMID:37107645|PMID:37485807|PMID:7218275|PMID:9536098
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:12714	Ellis-Van Creveld syndrome		ISS	RGD:1321309	D	RGD:13592920	20230718	MouseDO		OMIM:225500	
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:12714	Ellis-Van Creveld syndrome	susceptibility	ISO	RGD:1321308	D	RGD:1600212|PMID:12571802	20070302	RGD		DNA:mutations	
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:26580685|PMID:28492532
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12468274|PMID:17024374|PMID:19810119|PMID:19876929|PMID:23220543|PMID:24033266|PMID:25525159|PMID:25741868|PMID:28492532
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:9002747	Selective Tooth Agenesis 2		ISO	RGD:1321308	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Tooth agenesis, selective, 2	PMID:25741868
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10700184|PMID:12468274|PMID:12571802|PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310417	Evc2	EvC ciliary complex subunit 2	gene	DOID:9249	Beemer-Langer syndrome		ISO	RGD:1321308	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome	PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549
1310418	Trmt2a	tRNA methyltransferase 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310418	Trmt2a	tRNA methyltransferase 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1604368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310418	Trmt2a	tRNA methyltransferase 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310418	Trmt2a	tRNA methyltransferase 2A	gene	DOID:1115	sarcoma		ISO	RGD:1604368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310418	Trmt2a	tRNA methyltransferase 2A	gene	DOID:1324	lung cancer		ISO	RGD:1604368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310418	Trmt2a	tRNA methyltransferase 2A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310418	Trmt2a	tRNA methyltransferase 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1604368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310418	Trmt2a	tRNA methyltransferase 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310418	Trmt2a	tRNA methyltransferase 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310418	Trmt2a	tRNA methyltransferase 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310419	Nipsnap1	nipsnap homolog 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310419	Nipsnap1	nipsnap homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321311	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310419	Nipsnap1	nipsnap homolog 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310419	Nipsnap1	nipsnap homolog 1	gene	DOID:1909	melanoma		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310419	Nipsnap1	nipsnap homolog 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310419	Nipsnap1	nipsnap homolog 1	gene	DOID:3275	thymoma		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310419	Nipsnap1	nipsnap homolog 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310419	Nipsnap1	nipsnap homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310419	Nipsnap1	nipsnap homolog 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310419	Nipsnap1	nipsnap homolog 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310419	Nipsnap1	nipsnap homolog 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310420	Tyw1	tRNA-yW synthesizing protein 1 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310420	Tyw1	tRNA-yW synthesizing protein 1 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1345301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310420	Tyw1	tRNA-yW synthesizing protein 1 homolog	gene	DOID:1909	melanoma		ISO	RGD:1345301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310420	Tyw1	tRNA-yW synthesizing protein 1 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1345301	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310420	Tyw1	tRNA-yW synthesizing protein 1 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310420	Tyw1	tRNA-yW synthesizing protein 1 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:10762	portal hypertension		IEP		D	RGD:11528851|PMID:26627607	20191107	RGD		protein:increased expression:mesentary	
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:10762	portal hypertension	treatment	ISO	RGD:1321315	D	RGD:11528851|PMID:26627607	20191107	RGD			
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1321314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:12236	primary biliary cholangitis		IEP		D	RGD:11528851|PMID:26627607	20191107	RGD		protein:increased expression:liver	
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1321314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:13938	amenorrhea		ISO	RGD:1321314	D	RGD:8554872	20190416	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1321314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:3068	glioblastoma	disease_progression	IMP		D	RGD:9685152|PMID:23360795	20141217	RGD			
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1321314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1321314	D	RGD:11528851|PMID:26627607	20191107	RGD		associated with Hepatitis C, Chronic; protein:increased expression:liver	
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1321314	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20062064
1310421	Cpeb1	cytoplasmic polyadenylation element binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310422	Dcun1d4	defective in cullin neddylation 1 domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1604387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310422	Dcun1d4	defective in cullin neddylation 1 domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310422	Dcun1d4	defective in cullin neddylation 1 domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1604387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310422	Dcun1d4	defective in cullin neddylation 1 domain containing 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310422	Dcun1d4	defective in cullin neddylation 1 domain containing 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310422	Dcun1d4	defective in cullin neddylation 1 domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1604387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310422	Dcun1d4	defective in cullin neddylation 1 domain containing 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310422	Dcun1d4	defective in cullin neddylation 1 domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310422	Dcun1d4	defective in cullin neddylation 1 domain containing 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310422	Dcun1d4	defective in cullin neddylation 1 domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310423	Vstm4	V-set and transmembrane domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310423	Vstm4	V-set and transmembrane domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310423	Vstm4	V-set and transmembrane domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1321317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310423	Vstm4	V-set and transmembrane domain containing 4	gene	DOID:3070	high grade glioma		ISO	RGD:1321317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310423	Vstm4	V-set and transmembrane domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310423	Vstm4	V-set and transmembrane domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310423	Vstm4	V-set and transmembrane domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310425	Fam221b	family with sequence similarity 221, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310425	Fam221b	family with sequence similarity 221, member B	gene	DOID:10534	stomach cancer		ISO	RGD:1321320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310426	Paqr3	progestin and adipoQ receptor family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310426	Paqr3	progestin and adipoQ receptor family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:0060249	scoliosis		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation		ISO	RGD:1602125	D	RGD:7240710	20190315	OMIM			
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation | ClinVar Annotator: match by term: EMC1-related condition	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602125	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1602125	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive	PMID:23105016|PMID:28492532
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1602125	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa	PMID:23105016|PMID:25741868|PMID:28492532
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26942288|PMID:28492532|PMID:31904590
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:10907	microcephaly		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:12849	autistic disorder		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:480	movement disease		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602125	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522|PMID:38374194
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1602125	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:26572623|PMID:26942288|PMID:28492532|PMID:29271071|PMID:38374194
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:26942288|PMID:28492532|PMID:31904590
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Speech delay	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:936	brain disease		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1602125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:28492532
1310427	Emc1	ER membrane protein complex subunit 1	gene	DOID:9970	obesity		ISO	RGD:1602125	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:26572623|PMID:26942288|PMID:28492532|PMID:29271071
1310429	C10h17orf75	similar to human chromosome 17 open reading frame 75	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310429	C10h17orf75	similar to human chromosome 17 open reading frame 75	gene	DOID:1324	lung cancer		ISO	RGD:1602870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1310429	C10h17orf75	similar to human chromosome 17 open reading frame 75	gene	DOID:4362	cervical cancer		ISO	RGD:1602870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310429	C10h17orf75	similar to human chromosome 17 open reading frame 75	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310429	C10h17orf75	similar to human chromosome 17 open reading frame 75	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310429	C10h17orf75	similar to human chromosome 17 open reading frame 75	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310429	C10h17orf75	similar to human chromosome 17 open reading frame 75	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310429	C10h17orf75	similar to human chromosome 17 open reading frame 75	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310430	Emc2	ER membrane protein complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310430	Emc2	ER membrane protein complex subunit 2	gene	DOID:0060058	lymphoma		ISO	RGD:1321326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310430	Emc2	ER membrane protein complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310430	Emc2	ER membrane protein complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310430	Emc2	ER membrane protein complex subunit 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1321326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310430	Emc2	ER membrane protein complex subunit 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310430	Emc2	ER membrane protein complex subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310430	Emc2	ER membrane protein complex subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321326	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310430	Emc2	ER membrane protein complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310430	Emc2	ER membrane protein complex subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310430	Emc2	ER membrane protein complex subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310430	Emc2	ER membrane protein complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310430	Emc2	ER membrane protein complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310431	Siae	sialic acid acetylesterase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17576681|PMID:28492532|PMID:9536098
1310431	Siae	sialic acid acetylesterase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310431	Siae	sialic acid acetylesterase	gene	DOID:10534	stomach cancer		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310431	Siae	sialic acid acetylesterase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1310431	Siae	sialic acid acetylesterase	gene	DOID:417	autoimmune disease		ISO	RGD:1604014	D	RGD:11554173	20190514	CTD		CTD Direct Evidence: marker/mechanism	
1310431	Siae	sialic acid acetylesterase	gene	DOID:417	autoimmune disease		ISO	RGD:1604014	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 6 | ClinVar Annotator: match by term: SIAE-related condition	PMID:20555325|PMID:22200769|PMID:22257840|PMID:23011869|PMID:23308225|PMID:25741868|PMID:28492532|PMID:28900629
1310431	Siae	sialic acid acetylesterase	gene	DOID:417	autoimmune disease	susceptibility	ISO	RGD:1604014	D	RGD:7240710	20190502	OMIM			
1310431	Siae	sialic acid acetylesterase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310431	Siae	sialic acid acetylesterase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:17576681|PMID:28492532|PMID:9536098
1310431	Siae	sialic acid acetylesterase	gene	DOID:824	periodontitis		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:17576681|PMID:28492532|PMID:9536098
1310431	Siae	sialic acid acetylesterase	gene	DOID:9001733	Tinnitus		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:17576681|PMID:28492532|PMID:9536098
1310431	Siae	sialic acid acetylesterase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310431	Siae	sialic acid acetylesterase	gene	DOID:9007736	Vertigo		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:17576681|PMID:28492532|PMID:9536098
1310431	Siae	sialic acid acetylesterase	gene	DOID:9008421	Epistaxis		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:17576681|PMID:28492532|PMID:9536098
1310431	Siae	sialic acid acetylesterase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310432	Rdm1	RAD52 motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310432	Rdm1	RAD52 motif containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310432	Rdm1	RAD52 motif containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1321329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310432	Rdm1	RAD52 motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310432	Rdm1	RAD52 motif containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310433	Setd5	SET domain containing 5	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310433	Setd5	SET domain containing 5	gene	DOID:0050567	orofacial cleft		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular canal defect	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:0050840	cervical dystonia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
1310433	Setd5	SET domain containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310433	Setd5	SET domain containing 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321331	D	RGD:155804255|PMID:30655503	20230110	RGD			
1310433	Setd5	SET domain containing 5	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:0060249	scoliosis		ISO	RGD:1605381	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:0060260	ptosis		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:0060261	congenital ptosis		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ptosis	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:0060320	inguinal hernia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	
1310433	Setd5	SET domain containing 5	gene	DOID:0060321	umbilical hernia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868|PMID:38177409
1310433	Setd5	SET domain containing 5	gene	DOID:0060604	ankyloglossia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tongue tie	
1310433	Setd5	SET domain containing 5	gene	DOID:0070053	autosomal dominant intellectual developmental disorder 23		ISO	RGD:1605381	D	RGD:7240710	20150708	OMIM			
1310433	Setd5	SET domain containing 5	gene	DOID:0070053	autosomal dominant intellectual developmental disorder 23		ISO	RGD:1605381	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 23 | ClinVar Annotator: match by term: SETD5-related condition | ClinVar Annotator: match by term: SETD5-related disorder	PMID:24680889|PMID:25741868|PMID:27824329|PMID:28191889|PMID:28191890|PMID:28492532|PMID:29758562|PMID:31337854|PMID:33004838|PMID:35904121|PMID:35982159|PMID:37120078|PMID:38041506
1310433	Setd5	SET domain containing 5	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:0080918	polymicrogyria		ISO	RGD:1605381	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:32581362
1310433	Setd5	SET domain containing 5	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868|PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:10283	prostate cancer		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:24680889|PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1605381	D	RGD:155804256|PMID:30616239	20230110	RGD			
1310433	Setd5	SET domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310433	Setd5	SET domain containing 5	gene	DOID:1059	intellectual disability		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:24680889|PMID:25741868|PMID:28492532|PMID:38177409
1310433	Setd5	SET domain containing 5	gene	DOID:1059	intellectual disability		ISO	RGD:1605381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:16757948|PMID:17352659|PMID:23020937|PMID:24680889|PMID:25138099|PMID:25741868|PMID:26482601|PMID:27375234|PMID:28492532|PMID:28881385|PMID:31474762|PMID:34374989|PMID:36875494|PMID:38177409
1310433	Setd5	SET domain containing 5	gene	DOID:10907	microcephaly		ISO	RGD:1605381	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310433	Setd5	SET domain containing 5	gene	DOID:11383	cryptorchidism		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: Unilateral cryptorchidism	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:1148	polydactyly		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:28881385
1310433	Setd5	SET domain containing 5	gene	DOID:11830	myopia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:12449	aplastic anemia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	PMID:24680889|PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:12849	autistic disorder		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:24680889|PMID:25741868|PMID:28191889|PMID:28492532|PMID:29758562|PMID:33004838|PMID:35982159
1310433	Setd5	SET domain containing 5	gene	DOID:13141	uveitis		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveitis	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310433	Setd5	SET domain containing 5	gene	DOID:13620	patent foramen ovale		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1310433	Setd5	SET domain containing 5	gene	DOID:14780	KBG syndrome		ISO	RGD:1605381	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: KBG syndrome	
1310433	Setd5	SET domain containing 5	gene	DOID:1596	depressive disorder		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:1612	breast cancer		ISO	RGD:1605381	D	RGD:155804257|PMID:35063407	20230110	RGD			
1310433	Setd5	SET domain containing 5	gene	DOID:1724	duodenal ulcer		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duodenal ulcer	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:1824	status epilepticus		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:1826	epilepsy		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:29758562
1310433	Setd5	SET domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310433	Setd5	SET domain containing 5	gene	DOID:1924	hypogonadism		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:2030	anxiety disorder		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety | ClinVar Annotator: match by term: anxiety	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:2234	focal epilepsy		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310433	Setd5	SET domain containing 5	gene	DOID:2340	craniosynostosis		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:38177409
1310433	Setd5	SET domain containing 5	gene	DOID:2355	anemia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:3070	high grade glioma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310433	Setd5	SET domain containing 5	gene	DOID:3326	purpura		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Petechiae	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1605381	D	RGD:155804254|PMID:31981592	20230110	RGD			
1310433	Setd5	SET domain containing 5	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:420	hypertrichosis		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310433	Setd5	SET domain containing 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1605381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310433	Setd5	SET domain containing 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310433	Setd5	SET domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310433	Setd5	SET domain containing 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310433	Setd5	SET domain containing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:630	genetic disease		ISO	RGD:1605381	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24680889|PMID:25741868|PMID:27375234|PMID:28135719|PMID:28191889|PMID:28492532|PMID:28881385|PMID:29758562|PMID:31474762|PMID:33004838|PMID:33921431|PMID:35904121|PMID:35982159|PMID:37120078|PMID:39603091
1310433	Setd5	SET domain containing 5	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1321331	D	RGD:155794379|PMID:34050709	20230109	RGD			
1310433	Setd5	SET domain containing 5	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310433	Setd5	SET domain containing 5	gene	DOID:850	lung disease		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:8927	learning disability		ISO	RGD:1605381	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:9000006	Supraventricular Tachycardia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Supraventricular tachycardia	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9001031	Retrognathia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28191889|PMID:28492532|PMID:33004838|PMID:35904121|PMID:37120078
1310433	Setd5	SET domain containing 5	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9001510	Funnel Chest		ISO	RGD:1605381	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:24680889|PMID:25741868|PMID:28492532|PMID:34169511
1310433	Setd5	SET domain containing 5	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:9002569	Overweight		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9003133	Hypertelorism		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9003507	Premature Birth		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1310433	Setd5	SET domain containing 5	gene	DOID:9003703	Coxa Valga		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	
1310433	Setd5	SET domain containing 5	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1310433	Setd5	SET domain containing 5	gene	DOID:9003837	Au-Kline Syndrome		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kabuki-like syndrome	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605381	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1310433	Setd5	SET domain containing 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605381	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:23020937|PMID:24680889|PMID:25138099|PMID:25741868|PMID:28191889|PMID:28492532|PMID:28990276|PMID:33004838|PMID:35904121|PMID:37120078
1310433	Setd5	SET domain containing 5	gene	DOID:9004507	Hirsutism		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	
1310433	Setd5	SET domain containing 5	gene	DOID:9004538	Hearing Loss		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:24680889|PMID:25741868|PMID:28191889|PMID:28492532|PMID:33004838|PMID:35982159
1310433	Setd5	SET domain containing 5	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
1310433	Setd5	SET domain containing 5	gene	DOID:9004866	Ataxia		ISO	RGD:1605381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:24680889|PMID:25741868|PMID:27375234|PMID:28492532|PMID:28881385
1310433	Setd5	SET domain containing 5	gene	DOID:9005274	Polyuria		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyuria	PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:24680889|PMID:25741868|PMID:28191889|PMID:28492532|PMID:31337854|PMID:33004838|PMID:35982159|PMID:38177409
1310433	Setd5	SET domain containing 5	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:16757948|PMID:17352659|PMID:23020937|PMID:24680889|PMID:25138099|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494
1310433	Setd5	SET domain containing 5	gene	DOID:9006727	Polydipsia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydipsia	PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310433	Setd5	SET domain containing 5	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery atresia	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9007302	Vitreous Hemorrhage		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vitreous hemorrhage	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9007573	Flatfoot		ISO	RGD:1605381	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:9007661	Dwarfism		ISO	RGD:1605381	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:24680889|PMID:25741868|PMID:28191889|PMID:28492532|PMID:31337854|PMID:33004838|PMID:35982159
1310433	Setd5	SET domain containing 5	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	
1310433	Setd5	SET domain containing 5	gene	DOID:9008350	NATURAL KILLER CELL ENTEROPATHY		ISO	RGD:1605381	D	RGD:8554872	20200121	ClinVar		ClinVar Annotator: match by term: NK-cell enteropathy	
1310433	Setd5	SET domain containing 5	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	PMID:25741868|PMID:38177409
1310433	Setd5	SET domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310433	Setd5	SET domain containing 5	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastrointestinal hemorrhage	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28492532
1310433	Setd5	SET domain containing 5	gene	DOID:9834	hyperopia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1310433	Setd5	SET domain containing 5	gene	DOID:9840	esotropia		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
1310433	Setd5	SET domain containing 5	gene	DOID:9970	obesity		ISO	RGD:1605381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1310434	Neurod4	neuronal differentiation 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310435	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310435	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:289	endometriosis		ISO	RGD:1321334	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1310435	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310435	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1310435	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:5408	Paget disease of bone		ISO	RGD:1321334	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21623375
1310435	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:670	amphetamine abuse		ISO	RGD:1321334	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1310435	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
1310435	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310435	Dcstamp	dendrocyte expressed seven transmembrane protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
1310437	Ddx47	DEAD-box helicase 47	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310437	Ddx47	DEAD-box helicase 47	gene	DOID:1059	intellectual disability		ISO	RGD:1321338	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1310437	Ddx47	DEAD-box helicase 47	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310437	Ddx47	DEAD-box helicase 47	gene	DOID:3070	high grade glioma		ISO	RGD:1321338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310437	Ddx47	DEAD-box helicase 47	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310437	Ddx47	DEAD-box helicase 47	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1321338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310437	Ddx47	DEAD-box helicase 47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310437	Ddx47	DEAD-box helicase 47	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310437	Ddx47	DEAD-box helicase 47	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1321338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310437	Ddx47	DEAD-box helicase 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310437	Ddx47	DEAD-box helicase 47	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310437	Ddx47	DEAD-box helicase 47	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310439	Dtl	denticleless E3 ubiquitin protein ligase adapter	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310439	Dtl	denticleless E3 ubiquitin protein ligase adapter	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1604818	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1310439	Dtl	denticleless E3 ubiquitin protein ligase adapter	gene	DOID:0080600	COVID-19		ISO	RGD:1604818	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310439	Dtl	denticleless E3 ubiquitin protein ligase adapter	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310439	Dtl	denticleless E3 ubiquitin protein ligase adapter	gene	DOID:5041	esophageal cancer		ISO	RGD:1604818	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310439	Dtl	denticleless E3 ubiquitin protein ligase adapter	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310439	Dtl	denticleless E3 ubiquitin protein ligase adapter	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604818	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310439	Dtl	denticleless E3 ubiquitin protein ligase adapter	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1604818	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1310439	Dtl	denticleless E3 ubiquitin protein ligase adapter	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310439	Dtl	denticleless E3 ubiquitin protein ligase adapter	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310440	Meaf6	MYST/Esa1-associated factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310440	Meaf6	MYST/Esa1-associated factor 6	gene	DOID:3275	thymoma		ISO	RGD:1604318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310440	Meaf6	MYST/Esa1-associated factor 6	gene	DOID:4362	cervical cancer		ISO	RGD:1604318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310440	Meaf6	MYST/Esa1-associated factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310440	Meaf6	MYST/Esa1-associated factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310440	Meaf6	MYST/Esa1-associated factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1321344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:1324	lung cancer		ISO	RGD:1321344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:4362	cervical cancer		ISO	RGD:1321344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:77	gastrointestinal system disease	onset	ISO	RGD:1321344	D	RGD:629136812|PMID:29635781	20260122	RGD		associated with cystic fibrosis;DNA:SNP: :rs7512462	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:8437	intestinal obstruction		ISO	RGD:1321344	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22466613
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:9000739	Burkholderia Infections		ISO	RGD:1321344	D	RGD:629136813|PMID:28756021	20251218	RGD		associated with cystic fibrosis;DNA:SNP: :rs7512462	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:1321344	D	RGD:629136812|PMID:29635781	20251218	RGD		associated with cystic fibrosis;DNA:SNP: :rs7512462	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:9009410	cystic fibrosis-related diabetes		ISO	RGD:1321344	D	RGD:630758985|PMID:31581148	20260120	RGD		DNA:SNPs, haplotypes:multiple	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:9009410	cystic fibrosis-related diabetes		ISO	RGD:1321344	D	RGD:630960470|PMID:23670970	20260120	RGD		DNA:SNPs:promoter, 5' utr:multiple	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310441	Slc26a9	solute carrier family 26 member 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1321344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310442	Tiprl	TOR signaling pathway regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310442	Tiprl	TOR signaling pathway regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1605834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310442	Tiprl	TOR signaling pathway regulator	gene	DOID:2394	ovarian cancer		ISO	RGD:1605834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310442	Tiprl	TOR signaling pathway regulator	gene	DOID:3070	high grade glioma		ISO	RGD:1605834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310442	Tiprl	TOR signaling pathway regulator	gene	DOID:3275	thymoma		ISO	RGD:1605834	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310442	Tiprl	TOR signaling pathway regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310442	Tiprl	TOR signaling pathway regulator	gene	DOID:6039	uveal melanoma		ISO	RGD:1605834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310442	Tiprl	TOR signaling pathway regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310442	Tiprl	TOR signaling pathway regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310442	Tiprl	TOR signaling pathway regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310444	Endod1	endonuclease domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1602126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310444	Endod1	endonuclease domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310444	Endod1	endonuclease domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310444	Endod1	endonuclease domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310445	Diras1	DIRAS family GTPase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310445	Diras1	DIRAS family GTPase 1	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:12107474	D	RGD:9068941	20250116	OMIA		Epilepsy, generalized myoclonic, with photosensitivity	PMID:28223533|PMID:29194766|PMID:38003185
1310447	Irf5	interferon regulatory factor 5	gene	DOID:0050211	swine influenza	disease_progression	ISO	RGD:1321355	D	RGD:40924628|PMID:29046356	20210114	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:0050521	Oropouche fever		ISO	RGD:1321355	D	RGD:11075056|PMID:26468541	20210115	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1321354	D	RGD:40924562|PMID:27942586	20210113	RGD		mRNA:increased expression:liver	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:0080600	COVID-19		ISO	RGD:1321354	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310447	Irf5	interferon regulatory factor 5	gene	DOID:0110895	inflammatory bowel disease 14		ISO	RGD:1321354	D	RGD:11554173	20230711	CTD		CTD Direct Evidence: marker/mechanism	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:0110895	inflammatory bowel disease 14	susceptibility	ISO	RGD:1321354	D	RGD:7240710	20260812	OMIM			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:1324	lung cancer		ISO	RGD:1321354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:13603	obstructive jaundice		IEP		D	RGD:10402168|PMID:21737101	20210118	RGD		mRNA,protein:increased expression:liver,nucleus:	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:1883	hepatitis C		ISO	RGD:1321354	D	RGD:40924562|PMID:27942586	20210113	RGD		mRNA:increased expression:liver	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:1883	hepatitis C	treatment	ISO	RGD:1321354	D	RGD:40924642|PMID:28259968	20210115	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:2366	West Nile fever	disease_progression	ISO	RGD:1321355	D	RGD:40924561|PMID:25031348	20210113	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:2377	multiple sclerosis		ISO	RGD:1321354	D	RGD:11055911|PMID:25392335	20210113	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:1321354	D	RGD:40924643|PMID:20861862	20210115	RGD		DNA:SNPs: :rs3807306, rs4728142 (human)	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:418	systemic scleroderma		ISO	RGD:1321354	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20383147
1310447	Irf5	interferon regulatory factor 5	gene	DOID:5082	liver cirrhosis		ISO	RGD:1321355	D	RGD:40924562|PMID:27942586	20210113	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:1321354	D	RGD:40924562|PMID:27942586	20210113	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:5199	ureteral obstruction	treatment	IEP		D	RGD:40924651|PMID:31177020	20210118	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:552	pneumonia	severity	ISO	RGD:1321354	D	RGD:40907064|PMID:29847542	20210112	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321354	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1321354	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842|PMID:23143596
1310447	Irf5	interferon regulatory factor 5	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1321354	D	RGD:40924559|PMID:29352853	20210113	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1321354	D	RGD:40924627|PMID:29379122	20210114	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:820	myocarditis	treatment	ISO	RGD:1321355	D	RGD:40907063|PMID:31279856	20210112	RGD		associated with Coxsackievirus Infections;	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:848	arthritis		ISO	RGD:1321355	D	RGD:40924631|PMID:32743529	20210114	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:8566	herpes simplex	susceptibility	ISO	RGD:1321354	D	RGD:40924643|PMID:20861862	20210115	RGD		associated with multiple sclerosis;DNA:SNP: :rs3807306 (human)	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:8577	ulcerative colitis		ISO	RGD:1321354	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297633
1310447	Irf5	interferon regulatory factor 5	gene	DOID:9000039	Spinal Cord Injuries	treatment	IEP		D	RGD:40924652|PMID:24968269	20210118	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:9001240	Peripheral Nerve Injuries		IEP		D	RGD:40924654|PMID:29927790	20210119	RGD		protein:increased expression:spinal dorsal horn	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:9006439	Electric Burns	treatment	ISO	RGD:1321355	D	RGD:40907061|PMID:28620671	20210112	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310447	Irf5	interferon regulatory factor 5	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1321354	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18204446|PMID:19838193
1310447	Irf5	interferon regulatory factor 5	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1321354	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 10 | ClinVar Annotator: match by term: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 10	PMID:25741868
1310447	Irf5	interferon regulatory factor 5	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1321354	D	RGD:7240710	20260812	OMIM			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1321355	D	RGD:40924560|PMID:32038622	20210113	RGD			
1310447	Irf5	interferon regulatory factor 5	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1321355	D	RGD:40924629|PMID:30067973	20210114	RGD		protein:increased expression:CD4 T cell, nucleus	
1310450	Atg9a	autophagy related 9A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310450	Atg9a	autophagy related 9A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310450	Atg9a	autophagy related 9A	gene	DOID:10534	stomach cancer		ISO	RGD:1353328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310450	Atg9a	autophagy related 9A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310450	Atg9a	autophagy related 9A	gene	DOID:1115	sarcoma		ISO	RGD:1353328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310450	Atg9a	autophagy related 9A	gene	DOID:1324	lung cancer		ISO	RGD:1353328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310450	Atg9a	autophagy related 9A	gene	DOID:1909	melanoma		ISO	RGD:1353328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310450	Atg9a	autophagy related 9A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310450	Atg9a	autophagy related 9A	gene	DOID:3275	thymoma		ISO	RGD:1353328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310450	Atg9a	autophagy related 9A	gene	DOID:4362	cervical cancer		ISO	RGD:1353328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310450	Atg9a	autophagy related 9A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310450	Atg9a	autophagy related 9A	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1353328	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1310450	Atg9a	autophagy related 9A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310450	Atg9a	autophagy related 9A	gene	DOID:5041	esophageal cancer		ISO	RGD:1353328	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310450	Atg9a	autophagy related 9A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310450	Atg9a	autophagy related 9A	gene	DOID:6039	uveal melanoma		ISO	RGD:1353328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310450	Atg9a	autophagy related 9A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310450	Atg9a	autophagy related 9A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310450	Atg9a	autophagy related 9A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310450	Atg9a	autophagy related 9A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310450	Atg9a	autophagy related 9A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310450	Atg9a	autophagy related 9A	gene	DOID:9256	colorectal cancer		ISO	RGD:1353328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310451	Celf6	CUGBP, Elav-like family member 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310451	Celf6	CUGBP, Elav-like family member 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1321359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310451	Celf6	CUGBP, Elav-like family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:0060858	hypotonia-cystinuria syndrome		ISO	RGD:1605634	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26247364
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:0060858	hypotonia-cystinuria syndrome		ISS	RGD:1332422	D	RGD:13592920	20230718	MouseDO		OMIM:606407	
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1605634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1605634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1605634	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26247364
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:8927	learning disability		ISO	RGD:1605634	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26247364
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605634	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26247364
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605634	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26247364
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:9256	colorectal cancer		ISO	RGD:1605634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310453	Camkmt	calmodulin-lysine N-methyltransferase	gene	DOID:9923	developmental coordination disorder		ISO	RGD:1605634	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26247364
1310455	Tox	thymocyte selection-associated high mobility group box	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310455	Tox	thymocyte selection-associated high mobility group box	gene	DOID:0060058	lymphoma		ISO	RGD:1605410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310455	Tox	thymocyte selection-associated high mobility group box	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310455	Tox	thymocyte selection-associated high mobility group box	gene	DOID:3275	thymoma		ISO	RGD:1605410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310455	Tox	thymocyte selection-associated high mobility group box	gene	DOID:4362	cervical cancer		ISO	RGD:1605410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310455	Tox	thymocyte selection-associated high mobility group box	gene	DOID:5041	esophageal cancer		ISO	RGD:1605410	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310455	Tox	thymocyte selection-associated high mobility group box	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310455	Tox	thymocyte selection-associated high mobility group box	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310455	Tox	thymocyte selection-associated high mobility group box	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310456	Zfp513	zinc finger protein 513	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310456	Zfp513	zinc finger protein 513	gene	DOID:0110362	retinitis pigmentosa 58		ISO	RGD:1321365	D	RGD:7240710	20130425	OMIM			
1310456	Zfp513	zinc finger protein 513	gene	DOID:0110362	retinitis pigmentosa 58		ISO	RGD:1321365	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 58 | ClinVar Annotator: match by term: ZNF513-related condition	PMID:20227676|PMID:20797688|PMID:25741868|PMID:28492532
1310456	Zfp513	zinc finger protein 513	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321365	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:20227676|PMID:20797688|PMID:25741868|PMID:28492532
1310456	Zfp513	zinc finger protein 513	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:28492532
1310456	Zfp513	zinc finger protein 513	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310456	Zfp513	zinc finger protein 513	gene	DOID:5723	optic atrophy		ISO	RGD:1321365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1310456	Zfp513	zinc finger protein 513	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321365	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1310456	Zfp513	zinc finger protein 513	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310457	Traf2	Tnf receptor-associated factor 2	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1321367	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1310457	Traf2	Tnf receptor-associated factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310457	Traf2	Tnf receptor-associated factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310457	Traf2	Tnf receptor-associated factor 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1310457	Traf2	Tnf receptor-associated factor 2	gene	DOID:1909	melanoma		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310457	Traf2	Tnf receptor-associated factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310457	Traf2	Tnf receptor-associated factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310457	Traf2	Tnf receptor-associated factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310457	Traf2	Tnf receptor-associated factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310457	Traf2	Tnf receptor-associated factor 2	gene	DOID:9004283	Transplant Rejection	treatment	IEP		D	RGD:35316072|PMID:31828147	20200708	RGD			
1310457	Traf2	Tnf receptor-associated factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310457	Traf2	Tnf receptor-associated factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310457	Traf2	Tnf receptor-associated factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310458	Zc3h8	zinc finger CCCH type containing 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310458	Zc3h8	zinc finger CCCH type containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310459	Pou4f3	POU class 4 homeobox 3	gene	DOID:0110546	autosomal dominant nonsyndromic deafness 15		ISO	RGD:1321371	D	RGD:7240710	20130221	OMIM			
1310459	Pou4f3	POU class 4 homeobox 3	gene	DOID:0110546	autosomal dominant nonsyndromic deafness 15		ISS	RGD:1321372	D	RGD:13592920	20250724	MouseDO		OMIM:602459	
1310459	Pou4f3	POU class 4 homeobox 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321371	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532|PMID:30303587|PMID:30311386
1310459	Pou4f3	POU class 4 homeobox 3	gene	DOID:9008681	Deafness		ISO	RGD:1321371	D	RGD:1599168|PMID:9506947	20070118	RGD			
1310460	Fbxw2	F-box and WD repeat domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1321373	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310460	Fbxw2	F-box and WD repeat domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310460	Fbxw2	F-box and WD repeat domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321373	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310460	Fbxw2	F-box and WD repeat domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310460	Fbxw2	F-box and WD repeat domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310460	Fbxw2	F-box and WD repeat domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310460	Fbxw2	F-box and WD repeat domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310461	Cenpk	centromere protein K	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1605966	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581250
1310461	Cenpk	centromere protein K	gene	DOID:4362	cervical cancer		ISO	RGD:1605966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310461	Cenpk	centromere protein K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310461	Cenpk	centromere protein K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310461	Cenpk	centromere protein K	gene	DOID:9256	colorectal cancer		ISO	RGD:1605966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1321376	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration	PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28492532|PMID:32014858
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:0110330	Leber congenital amaurosis 13		ISO	RGD:1321376	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25526675
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:0110330	Leber congenital amaurosis 13		ISO	RGD:1321376	D	RGD:7240710	20130425	OMIM			
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:0110330	Leber congenital amaurosis 13		ISO	RGD:1321376	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 13	PMID:17964524|PMID:22065924|PMID:25910913|PMID:28492532|PMID:29178642|PMID:30372751
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16968212
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8547535|PMID:23701314	20140217	RGD			
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:31054281|PMID:32014858
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30979730|PMID:31054281|PMID:32014858
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32322264|PMID:32790509|PMID:34001834|PMID:34448047|PMID:35006499|PMID:36460718|PMID:36909829
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32322264|PMID:32790509|PMID:34001834|PMID:34448047|PMID:35006499|PMID:36460718|PMID:36909829|PMID:37714431|PMID:38184646
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:22995991|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27596865|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31589614|PMID:31814694|PMID:31964843|PMID:32014858|PMID:32036094|PMID:32141364|PMID:32322264|PMID:32531858|PMID:32790509|PMID:32865313|PMID:33921607|PMID:34001834|PMID:34426522|PMID:34448047|PMID:35006499|PMID:36460718|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37714431|PMID:38184646
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321376	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:22065924|PMID:22995991|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27596865|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:31054281|PMID:31456290|PMID:31589614|PMID:31814694|PMID:31964843|PMID:32014858|PMID:32036094|PMID:32141364|PMID:32322264|PMID:32531858|PMID:32865313|PMID:33921607|PMID:34426522|PMID:34448047|PMID:35006499|PMID:36460718|PMID:36819107|PMID:37217489|PMID:37714431|PMID:38184646
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17964524|PMID:19011012|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30979730|PMID:31814694|PMID:32014858|PMID:32865313|PMID:34448047
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:32865313|PMID:34001834|PMID:34448047|PMID:9536098
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36690427|PMID:36909829|PMID:9536098
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31814694|PMID:32014858|PMID:32037395|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36690427|PMID:36909829|PMID:9536098
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31801355|PMID:31814694|PMID:31816670|PMID:32014858|PMID:32037395|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36284670|PMID:36690427|PMID:36909829|PMID:9536098
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30029497|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31801355|PMID:31814694|PMID:31816670|PMID:32014858|PMID:32037395|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35672425|PMID:35994252|PMID:36284670|PMID:36690427|PMID:36909829|PMID:37217489|PMID:37714431|PMID:38219857|PMID:9536098
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21217109|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30029497|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31801355|PMID:31814694|PMID:31816670|PMID:32014858|PMID:32037395|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35672425|PMID:35994252|PMID:36011402|PMID:36284670|PMID:36690427|PMID:36909829|PMID:37217489|PMID:37714431|PMID:38219857|PMID:9536098
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321376	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21217109|PMID:22065924|PMID:22995991|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24123792|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26868535|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27596865|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29068479|PMID:29178642|PMID:29186038|PMID:30029497|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30870047|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31345219|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31801355|PMID:31814694|PMID:31816670|PMID:31964843|PMID:32014858|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32531858|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33608557|PMID:33970760|PMID:34001834|PMID:34315337|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35672425|PMID:35775617|PMID:35994252|PMID:36011402|PMID:36284670|PMID:36460718|PMID:36690427|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37714431|PMID:38219857|PMID:9536098
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:1321376	D	RGD:1599415|PMID:15322982	20070201	RGD			
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:8466	retinal degeneration		ISO	RGD:1321376	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16269441
1310462	Rdh12	retinol dehydrogenase 12	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321376	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18048336
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0050569	Seckel syndrome		ISS	RGD:1553493	D	RGD:13592920	20180518	MouseDO			
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0050587	trichotillomania		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichotillomania	PMID:15793586|PMID:16900296|PMID:20522431|PMID:28492532
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070010	Seckel syndrome 4		ISO	RGD:1321379	D	RGD:11541118|PMID:20522431	20161010	RGD		DNA:deletion:splice junction:c.3302-1G >C (IVS11-1G>C)(human)	
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070010	Seckel syndrome 4		ISO	RGD:1321379	D	RGD:7240710	20130221	OMIM			
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070010	Seckel syndrome 4		ISO	RGD:1321379	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: SECKEL SYNDROME 4 | ClinVar Annotator: match by term: Seckel syndrome 4	PMID:15793586|PMID:16900296|PMID:18414213|PMID:2052243|PMID:20522431|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070010	Seckel syndrome 4		ISO	RGD:1553493	D	RGD:11541114|PMID:23166506	20161010	RGD			
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070290	primary autosomal recessive microcephaly 6		ISO	RGD:1321379	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070290	primary autosomal recessive microcephaly 6		ISO	RGD:1321379	D	RGD:7240710	20141015	OMIM			
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070290	primary autosomal recessive microcephaly 6		ISO	RGD:1321379	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CENPJ-related condition | ClinVar Annotator: match by term: MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive	PMID:15793586|PMID:16900296|PMID:18414213|PMID:20301772|PMID:2052243|PMID:20522431|PMID:20978018|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32549991|PMID:34958143|PMID:35229910
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1321379	D	RGD:11541115|PMID:16900296	20161010	RGD		DNA:deletion mutation:cds:c.3243-46delTCAG (human)	
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0070297	primary microcephaly		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0112232	lissencephaly 3		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly type 3	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:0112234	microlissencephaly		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microlissencephaly	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:10534	stomach cancer		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:1059	intellectual disability		ISO	RGD:1321379	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:10907	microcephaly		ISO	RGD:1321379	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly	PMID:15793586|PMID:16900296|PMID:20301772|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:1115	sarcoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:12849	autistic disorder		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:15793586|PMID:16900296|PMID:20522431|PMID:28492532
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:1826	epilepsy		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:1909	melanoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Head-banging	PMID:15793586|PMID:16900296|PMID:20522431|PMID:28492532
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:3275	thymoma		ISO	RGD:1321379	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:535	sleep disorder		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:15793586|PMID:16900296|PMID:20522431|PMID:28492532
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:630	genetic disease		ISO	RGD:1321379	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:630	genetic disease		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36413997
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310464	Cpap	centrosome assembly and centriole elongation protein	gene	DOID:9849	Meniere's disease		ISO	RGD:1321379	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	PMID:25741868|PMID:28492532
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321381	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822268
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:1115	sarcoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1321381	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822268
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:3275	thymoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1321381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:769	neuroblastoma		ISO	RGD:1321381	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18577749
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:7788	adult spinal cord ependymoma		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adult spinal cord ependymoma	
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321381	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310465	Chd6	chromodomain helicase DNA binding protein 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310466	Oxsr1	oxidative stress responsive kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310466	Oxsr1	oxidative stress responsive kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310466	Oxsr1	oxidative stress responsive kinase 1	gene	DOID:10763	hypertension		ISO	RGD:1351310	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:22949526
1310466	Oxsr1	oxidative stress responsive kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310466	Oxsr1	oxidative stress responsive kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310466	Oxsr1	oxidative stress responsive kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310466	Oxsr1	oxidative stress responsive kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310466	Oxsr1	oxidative stress responsive kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351310	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310466	Oxsr1	oxidative stress responsive kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310466	Oxsr1	oxidative stress responsive kinase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310466	Oxsr1	oxidative stress responsive kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310466	Oxsr1	oxidative stress responsive kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310466	Oxsr1	oxidative stress responsive kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310467	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310467	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310467	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:10534	stomach cancer		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310467	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310467	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310467	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:4362	cervical cancer		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310467	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310467	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310467	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310467	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310467	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310467	Zcchc7	zinc finger CCHC-type containing 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1321386	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1321386	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:1324	lung cancer		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:1909	melanoma		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1321386	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310468	Abcf3	ATP binding cassette subfamily F member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310470	Shroom3	shroom family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1602873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1310470	Shroom3	shroom family member 3	gene	DOID:3275	thymoma		ISO	RGD:1602873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1310470	Shroom3	shroom family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310470	Shroom3	shroom family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1602873	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1321391	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX	
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1321391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:1115	sarcoma		ISO	RGD:1321391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:1324	lung cancer		ISO	RGD:1321391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:1909	melanoma		ISO	RGD:1321391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:2661	myoepithelioma		ISO	RGD:1321391	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:3275	thymoma		ISO	RGD:1321391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1310471	Lrp10	LDL receptor related protein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310472	Ptk7	protein tyrosine kinase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310472	Ptk7	protein tyrosine kinase 7	gene	DOID:1115	sarcoma		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310472	Ptk7	protein tyrosine kinase 7	gene	DOID:1324	lung cancer		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310472	Ptk7	protein tyrosine kinase 7	gene	DOID:3275	thymoma		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310472	Ptk7	protein tyrosine kinase 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310472	Ptk7	protein tyrosine kinase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1344975	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310472	Ptk7	protein tyrosine kinase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310472	Ptk7	protein tyrosine kinase 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310472	Ptk7	protein tyrosine kinase 7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344975	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1310472	Ptk7	protein tyrosine kinase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310472	Ptk7	protein tyrosine kinase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310472	Ptk7	protein tyrosine kinase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310472	Ptk7	protein tyrosine kinase 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1344975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:10534	stomach cancer		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:1115	sarcoma		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:1324	lung cancer		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:3070	high grade glioma		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:3275	thymoma		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:4362	cervical cancer		ISO	RGD:1321395	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:6039	uveal melanoma		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310473	Chtf18	chromosome transmission fidelity factor 18	gene	DOID:9256	colorectal cancer		ISO	RGD:1321395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1321397	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:25741868|PMID:32453716|PMID:32747439
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:25741868|PMID:32453716
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:0060340	ciliopathy		ISO	RGD:1321397	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ciliopathy	PMID:25741868
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:1059	intellectual disability		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:32453716
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:1115	sarcoma		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:1324	lung cancer		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:3275	thymoma		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321397	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:32453716
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:9002008	BROWN SYNDROME		ISO	RGD:1321397	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brown syndrome	PMID:25741868
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:9004866	Ataxia		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:32453716
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:32453716
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:9007319	Joubert Syndrome 37		ISO	RGD:1321397	D	RGD:7240710	20210303	OMIM			
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:9007319	Joubert Syndrome 37		ISO	RGD:1321397	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 37 | ClinVar Annotator: match by term: Joubert syndrome 37	PMID:25741868|PMID:32453716
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:32453716
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:32453716
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310474	Togaram1	TOG array regulator of axonemal microtubules 1	gene	DOID:9970	obesity		ISO	RGD:1321397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:32453716
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:0111672	primary hyperoxaluria type 3		ISO	RGD:1321399	D	RGD:7240710	20130221	OMIM			
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:0111672	primary hyperoxaluria type 3		ISO	RGD:1321399	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HOGA1-related condition | ClinVar Annotator: match by term: HYPEROXALURIA, PRIMARY, TYPE III | ClinVar Annotator: match by term: Primary hyperoxaluria type 3 | ClinVar Annotator: match by term: Primary hyperoxaluria type III | ClinVar Annotator: match by term: Primary hyperoxaluria, type III	PMID:16199547|PMID:17576681|PMID:20797690|PMID:21896830|PMID:21998747|PMID:22391140|PMID:22771891|PMID:2278109|PMID:22781098|PMID:22851625|PMID:23940605|PMID:24033266|PMID:24563386|PMID:25629080|PMID:25644115|PMID:25741868|PMID:25972204|PMID:26340091|PMID:26342005|PMID:27096395|PMID:27561601|PMID:27742850|PMID:28492532|PMID:28711958|PMID:29705963|PMID:30488096|PMID:30609409|PMID:31078535|PMID:31123811|PMID:31401635|PMID:31589614|PMID:31980526|PMID:33226606|PMID:33274618|PMID:33350326|PMID:33495102|PMID:3386585|PMID:33865885|PMID:34245816|PMID:34426522|PMID:34674420|PMID:34805638|PMID:34995728|PMID:35149915|PMID:35612621|PMID:36185032|PMID:36199823|PMID:36259736|PMID:36409364|PMID:36928260|PMID:37139236|PMID:37144129|PMID:37306718|PMID:37318624|PMID:37464296|PMID:39131880|PMID:39476025|PMID:39810772|PMID:39933499|PMID:40794449|PMID:40814648|PMID:9536098
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1321399	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:21896830|PMID:21998747|PMID:22771891|PMID:22781098|PMID:25741868|PMID:27561601|PMID:28492532|PMID:28711958|PMID:33865885
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:13580	cholestasis		ISO	RGD:1321399	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:1826	epilepsy		ISO	RGD:1321399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26342005|PMID:28492532|PMID:36259736|PMID:37464296|PMID:40794449
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:1909	melanoma		ISO	RGD:1321399	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:20797690|PMID:21896830|PMID:22391140|PMID:22781098|PMID:22851625|PMID:24033266|PMID:24563386|PMID:25629080|PMID:25644115|PMID:25741868|PMID:25972204|PMID:27096395|PMID:28492532|PMID:30609409|PMID:31589614|PMID:31980526|PMID:33226606|PMID:33865885|PMID:34426522|PMID:36185032|PMID:37306718|PMID:37318624|PMID:39810772|PMID:40794449|PMID:9536098
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321399	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:17576681|PMID:20797690|PMID:21896830|PMID:22391140|PMID:22781098|PMID:22851625|PMID:24033266|PMID:24563386|PMID:25629080|PMID:25644115|PMID:25741868|PMID:25972204|PMID:27096395|PMID:28492532|PMID:30609409|PMID:31589614|PMID:31980526|PMID:33226606|PMID:33865885|PMID:34426522|PMID:36185032|PMID:37306718|PMID:37318624|PMID:39810772|PMID:40794449|PMID:9536098
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:2977	primary hyperoxaluria		ISS	RGD:1321400	D	RGD:13592920	20180518	MouseDO		OMIM:260000 | OMIM:613616	
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:3275	thymoma		ISO	RGD:1321399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321399	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:20797690|PMID:21896830|PMID:22391140|PMID:22781098|PMID:22851625|PMID:24033266|PMID:24563386|PMID:25629080|PMID:25644115|PMID:25741868|PMID:25972204|PMID:27096395|PMID:28492532|PMID:30609409|PMID:31589614|PMID:31980526|PMID:33226606|PMID:33865885|PMID:34426522|PMID:36185032|PMID:37306718|PMID:37318624|PMID:39810772|PMID:40794449|PMID:9536098
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321399	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:20797690|PMID:21896830|PMID:22391140|PMID:22781098|PMID:22851625|PMID:24033266|PMID:24563386|PMID:25629080|PMID:25644115|PMID:25741868|PMID:25972204|PMID:27096395|PMID:28492532|PMID:30609409|PMID:31589614|PMID:31980526|PMID:33226606|PMID:33350326|PMID:33865885|PMID:34426522|PMID:36185032|PMID:37306718|PMID:37318624|PMID:39810772|PMID:40794449|PMID:9536098
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:630	genetic disease		ISO	RGD:1321399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:9002315	Kidney Calculi		ISO	RGD:1321399	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kidney stone	PMID:21896830|PMID:21998747|PMID:22771891|PMID:22781098|PMID:25741868|PMID:26342005|PMID:27561601|PMID:28492532|PMID:28711958|PMID:33865885|PMID:36259736|PMID:37464296|PMID:40794449
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310475	Hoga1	4-hydroxy-2-oxoglutarate aldolase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321399	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:20797690|PMID:21896830|PMID:22391140|PMID:22781098|PMID:22851625|PMID:24033266|PMID:24563386|PMID:25629080|PMID:25644115|PMID:25741868|PMID:25972204|PMID:27096395|PMID:28492532|PMID:30609409|PMID:31589614|PMID:31980526|PMID:33226606|PMID:33865885|PMID:34426522|PMID:36185032|PMID:37306718|PMID:37318624|PMID:39810772|PMID:40794449|PMID:9536098
1310477	Armc8	armadillo repeat containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310477	Armc8	armadillo repeat containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310477	Armc8	armadillo repeat containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310477	Armc8	armadillo repeat containing 8	gene	DOID:1115	sarcoma		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310477	Armc8	armadillo repeat containing 8	gene	DOID:1909	melanoma		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310477	Armc8	armadillo repeat containing 8	gene	DOID:3275	thymoma		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310477	Armc8	armadillo repeat containing 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310477	Armc8	armadillo repeat containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1601876	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310477	Armc8	armadillo repeat containing 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310477	Armc8	armadillo repeat containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310477	Armc8	armadillo repeat containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310477	Armc8	armadillo repeat containing 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310477	Armc8	armadillo repeat containing 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:0050562	West syndrome		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction	PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:26299366|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:0080266	primary ciliary dyskinesia 37		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 37	PMID:26299366|PMID:28293831|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532|PMID:34926809
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:10534	stomach cancer		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:1059	intellectual disability		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:34926809
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:10907	microcephaly		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:1115	sarcoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:11782	astigmatism		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:11914	gastroparesis		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroparesis	PMID:25741868
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:12783	migraine without aura		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine without aura	PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:12849	autistic disorder		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:34926809
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:1324	lung cancer		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:1826	epilepsy		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:2228	thrombocytosis		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytosis	PMID:25741868
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:2280	hidradenitis suppurativa		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne inversa	PMID:25741868|PMID:28492532|PMID:34926809
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:2340	craniosynostosis		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:4362	cervical cancer		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:480	movement disease		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532|PMID:34926809
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:540	strabismus		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:26299366|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:5419	schizophrenia		ISO	RGD:1321404	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:6039	uveal melanoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:26467025|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:630	genetic disease		ISO	RGD:1321404	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:25741868|PMID:26299366|PMID:28293831|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25741868|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532|PMID:34926809
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9003703	Coxa Valga		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9004336	neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities		ISO	RGD:1321404	D	RGD:7240710	20151111	OMIM			
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9004336	neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities		ISO	RGD:1321404	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AFG2A-related condition | ClinVar Annotator: match by term: Epilepsy, hearing loss, and mental retardation syndrome | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26299366|PMID:26467025|PMID:28492532|PMID:28513609|PMID:29389922|PMID:31440721|PMID:33528536|PMID:9536098
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321404	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: syndromic complex neurodevelopmental disorder	PMID:25741868|PMID:26299366|PMID:26467025|PMID:28492532|PMID:28513609|PMID:31440721|PMID:33528536|PMID:35012964
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:34926809
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9007661	Dwarfism		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9008675	Dyskinesias		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:25741868
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9008681	Deafness		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: deafness	PMID:25741868
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:25741868|PMID:26299366|PMID:28293831|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
1310478	Afg2a	AAA ATPase AFG2A	gene	DOID:9256	colorectal cancer		ISO	RGD:1321404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:26467025|PMID:28492532
1310479	Wdr77	WD repeat domain 77	gene	DOID:0060058	lymphoma		ISO	RGD:1604293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310479	Wdr77	WD repeat domain 77	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer	
1310479	Wdr77	WD repeat domain 77	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310479	Wdr77	WD repeat domain 77	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310479	Wdr77	WD repeat domain 77	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310479	Wdr77	WD repeat domain 77	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310479	Wdr77	WD repeat domain 77	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1604293	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22022581
1310481	Tmem128	transmembrane protein 128	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:0112312	male infertility due to globozoospermia		ISS	RGD:1321410	D	RGD:13592920	20220317	MouseDO			
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:1909	melanoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:3275	thymoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1321409	D	RGD:151708716|PMID:23374247	20220812	RGD		mRNA:increased expression:lung (human)	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321409	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321409	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17566973
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	IDA		D	RGD:630350575|PMID:24166465	20260116	RGD			
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:9006945	Diabetic Cardiomyopathies	ameliorates	ISO	RGD:1321410	D	RGD:156430337|PMID:36044268	20230228	RGD			
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:9007838	Myocardial Reperfusion Injury		IEP		D	RGD:630350405|PMID:27076094	20260113	RGD		mRNA,protein:decreased expression:myocardium	
1310482	Hsp90b1	heat shock protein 90 beta family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:10534	stomach cancer		ISO	RGD:1321412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:1115	sarcoma		ISO	RGD:1321412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:1324	lung cancer		ISO	RGD:1321412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:1909	melanoma		ISO	RGD:1321412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:5041	esophageal cancer		ISO	RGD:1321412	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321412	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321412	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310484	Fam13b	family with sequence similarity 13, member B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310485	Slc46a2	solute carrier family 46, member 2	gene	DOID:1324	lung cancer		ISO	RGD:1321413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310486	Rnf17	ring finger protein 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310486	Rnf17	ring finger protein 17	gene	DOID:10534	stomach cancer		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310486	Rnf17	ring finger protein 17	gene	DOID:1115	sarcoma		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310486	Rnf17	ring finger protein 17	gene	DOID:1324	lung cancer		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310486	Rnf17	ring finger protein 17	gene	DOID:1909	melanoma		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310486	Rnf17	ring finger protein 17	gene	DOID:4362	cervical cancer		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310486	Rnf17	ring finger protein 17	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310486	Rnf17	ring finger protein 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321415	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310486	Rnf17	ring finger protein 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310487	Map3k14	mitogen-activated protein kinase kinase kinase 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310487	Map3k14	mitogen-activated protein kinase kinase kinase 14	gene	DOID:0061079	immunodeficiency 112		ISO	RGD:1321416	D	RGD:7240710	20230802	OMIM			
1310487	Map3k14	mitogen-activated protein kinase kinase kinase 14	gene	DOID:0061079	immunodeficiency 112		ISO	RGD:1321416	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 112 | ClinVar Annotator: match by term: MAP3K14-related condition	PMID:25741868|PMID:28492532|PMID:29230214|PMID:34093558
1310487	Map3k14	mitogen-activated protein kinase kinase kinase 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310487	Map3k14	mitogen-activated protein kinase kinase kinase 14	gene	DOID:12236	primary biliary cholangitis		ISS	RGD:1321417	D	RGD:13592920	20180518	MouseDO		OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221	
1310487	Map3k14	mitogen-activated protein kinase kinase kinase 14	gene	DOID:12894	Sjogren's syndrome		ISS	RGD:1321417	D	RGD:13592920	20180518	MouseDO		OMIM:270150	
1310487	Map3k14	mitogen-activated protein kinase kinase kinase 14	gene	DOID:3275	thymoma		ISO	RGD:1321416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310487	Map3k14	mitogen-activated protein kinase kinase kinase 14	gene	DOID:4362	cervical cancer		ISO	RGD:1321416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310487	Map3k14	mitogen-activated protein kinase kinase kinase 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310487	Map3k14	mitogen-activated protein kinase kinase kinase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310487	Map3k14	mitogen-activated protein kinase kinase kinase 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310487	Map3k14	mitogen-activated protein kinase kinase kinase 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310488	Syvn1	synoviolin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310488	Syvn1	synoviolin 1	gene	DOID:0060313	tracheomalacia		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:25741868
1310488	Syvn1	synoviolin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310488	Syvn1	synoviolin 1	gene	DOID:1059	intellectual disability		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
1310488	Syvn1	synoviolin 1	gene	DOID:10892	hypospadias		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1310488	Syvn1	synoviolin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310488	Syvn1	synoviolin 1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
1310488	Syvn1	synoviolin 1	gene	DOID:1324	lung cancer		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310488	Syvn1	synoviolin 1	gene	DOID:1826	epilepsy		ISO	RGD:1603603	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1310488	Syvn1	synoviolin 1	gene	DOID:2034	encephalomalacia		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalomalacia	PMID:25741868
1310488	Syvn1	synoviolin 1	gene	DOID:3275	thymoma		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310488	Syvn1	synoviolin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310488	Syvn1	synoviolin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310488	Syvn1	synoviolin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310488	Syvn1	synoviolin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310488	Syvn1	synoviolin 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1310488	Syvn1	synoviolin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310488	Syvn1	synoviolin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310489	Nxn	nucleoredoxin	gene	DOID:0050581	brachydactyly		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
1310489	Nxn	nucleoredoxin	gene	DOID:0060974	autosomal recessive Robinow syndrome 2		ISO	RGD:1321419	D	RGD:7240710	20190904	OMIM			
1310489	Nxn	nucleoredoxin	gene	DOID:0060974	autosomal recessive Robinow syndrome 2		ISO	RGD:1321419	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: NXN-related condition | ClinVar Annotator: match by term: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2	PMID:25741868|PMID:28492532|PMID:29276006
1310489	Nxn	nucleoredoxin	gene	DOID:1324	lung cancer		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310489	Nxn	nucleoredoxin	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1321419	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1310489	Nxn	nucleoredoxin	gene	DOID:3275	thymoma		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310489	Nxn	nucleoredoxin	gene	DOID:4362	cervical cancer		ISO	RGD:1321419	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310489	Nxn	nucleoredoxin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310489	Nxn	nucleoredoxin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321419	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310489	Nxn	nucleoredoxin	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
1310489	Nxn	nucleoredoxin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310489	Nxn	nucleoredoxin	gene	DOID:9007661	Dwarfism		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1310489	Nxn	nucleoredoxin	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1321419	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24836286
1310490	Parp14	poly (ADP-ribose) polymerase family, member 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344897	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310490	Parp14	poly (ADP-ribose) polymerase family, member 14	gene	DOID:10534	stomach cancer		ISO	RGD:1344897	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310490	Parp14	poly (ADP-ribose) polymerase family, member 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310490	Parp14	poly (ADP-ribose) polymerase family, member 14	gene	DOID:1115	sarcoma		ISO	RGD:1344897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310490	Parp14	poly (ADP-ribose) polymerase family, member 14	gene	DOID:1909	melanoma		ISO	RGD:1344897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310490	Parp14	poly (ADP-ribose) polymerase family, member 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1344897	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310490	Parp14	poly (ADP-ribose) polymerase family, member 14	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310490	Parp14	poly (ADP-ribose) polymerase family, member 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310490	Parp14	poly (ADP-ribose) polymerase family, member 14	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344897	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310490	Parp14	poly (ADP-ribose) polymerase family, member 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310490	Parp14	poly (ADP-ribose) polymerase family, member 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310490	Parp14	poly (ADP-ribose) polymerase family, member 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310490	Parp14	poly (ADP-ribose) polymerase family, member 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310490	Parp14	poly (ADP-ribose) polymerase family, member 14	gene	DOID:9256	colorectal cancer		ISO	RGD:1344897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310492	Grid2ip	Grid2 interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310492	Grid2ip	Grid2 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1351156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310492	Grid2ip	Grid2 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1351156	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310492	Grid2ip	Grid2 interacting protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1351156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310492	Grid2ip	Grid2 interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1351156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310492	Grid2ip	Grid2 interacting protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310492	Grid2ip	Grid2 interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1351156	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310492	Grid2ip	Grid2 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310492	Grid2ip	Grid2 interacting protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1351156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310494	Nit2	nitrilase family, member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310494	Nit2	nitrilase family, member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310494	Nit2	nitrilase family, member 2	gene	DOID:1324	lung cancer		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310494	Nit2	nitrilase family, member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310494	Nit2	nitrilase family, member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310494	Nit2	nitrilase family, member 2	gene	DOID:3275	thymoma		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310494	Nit2	nitrilase family, member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310494	Nit2	nitrilase family, member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310494	Nit2	nitrilase family, member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346727	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310494	Nit2	nitrilase family, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310494	Nit2	nitrilase family, member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310494	Nit2	nitrilase family, member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310496	Sugp1	SURP and G patch domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310496	Sugp1	SURP and G patch domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310496	Sugp1	SURP and G patch domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310496	Sugp1	SURP and G patch domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310496	Sugp1	SURP and G patch domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310496	Sugp1	SURP and G patch domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310496	Sugp1	SURP and G patch domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310496	Sugp1	SURP and G patch domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310497	Six6	SIX homeobox 6	gene	DOID:0080635	optic disc anomalies with retinal and/or macular dystrophy		ISO	RGD:1321431	D	RGD:7240710	20200311	OMIM			
1310497	Six6	SIX homeobox 6	gene	DOID:0111801	syndromic microphthalmia 3		ISO	RGD:1321431	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1310497	Six6	SIX homeobox 6	gene	DOID:11830	myopia		ISO	RGD:1321431	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23396134
1310497	Six6	SIX homeobox 6	gene	DOID:9007101	Isolated Microphthalmia with Cataract 2		ISO	RGD:1321431	D	RGD:11554173	20200317	CTD		CTD Direct Evidence: marker/mechanism	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0050581	brachydactyly		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0050847	sleep apnea		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0050902	medulloblastoma		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0050934	ovarian clear cell carcinoma	treatment	ISO	RGD:1321437	D	RGD:126725086|PMID:21900401	20210405	RGD		human cell in mouse model	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:1321437	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Septo-optic dysplasia	PMID:25741868|PMID:35885948
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12	PMID:22426308|PMID:25168959|PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0070044	Coffin-Siris syndrome 2		ISO	RGD:1321437	D	RGD:7240710	20140911	OMIM			
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0070044	Coffin-Siris syndrome 2		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14	PMID:18414213|PMID:20826764|PMID:21590771|PMID:21900401|PMID:22009941|PMID:23202128|PMID:25741868|PMID:27993330|PMID:28492532|PMID:35353340|PMID:36348021|PMID:38600891
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1321437	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:28492532
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0080199	colorectal carcinoma	onset	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		protein:decreased expression:colorectum (human)	PMID:24925223|REF_RGD_ID:126790632
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:21163964|PMID:22009941|PMID:23208470|PMID:27993330|PMID:28726821|PMID:33172502
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:21163964|PMID:22009941|PMID:27993330|PMID:28726821
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0080875	IDH-mutant anaplastic astrocytoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astrocytoma IDH-mutant	PMID:27993330|PMID:30710203|PMID:35604410|PMID:37185778
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:23202128|PMID:23208470|PMID:27993330|PMID:28726821|PMID:30710203
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192917
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:23097632|PMID:25741868|PMID:35101336
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1321437	D	RGD:125097489|PMID:28031120	20210408	RGD		protein:decreased expression:stomach (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1321437	D	RGD:126781705|PMID:29317648	20210415	RGD		mRNA:decreased expression:stomach (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1321437	D	RGD:126790633|PMID:32387347	20210427	RGD		protein:decreased expression:stomach (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1321437	D	RGD:126790641|PMID:30747208	20210428	RGD		protein:decreased expression:stomach (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1321437	D	RGD:126781725|PMID:29689245	20210420	RGD		protein:decreased expression:stomach (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:1321437	D	RGD:126848772|PMID:32377988	20210430	RGD		DNA:missense mutation, nonsense mutation:exon 9: Pro912Thr (C>A), Gln920Ter (C >T) (Human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1321437	D	RGD:125097523|PMID:27323812	20210402	RGD		human gene in mouse model	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1321437	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25168959|PMID:25741868|PMID:28492532
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:10591	pre-eclampsia	disease_progression	ISO	RGD:1321437	D	RGD:243065143|PMID:32529396	20230412	RGD		associated with Fetal Growth Retardation; protein:increased expression:placenta, nucleus (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:10907	microcephaly		ISO	RGD:1321437	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822268
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321437	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:21163964|PMID:22009941|PMID:23010866|PMID:23208470|PMID:23556151|PMID:23637025|PMID:24651015|PMID:25168959|PMID:25169878|PMID:25741868|PMID:27993330|PMID:28262751|PMID:28726821|PMID:33172502|PMID:33741928
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1115	sarcoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:11162	respiratory failure		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:11193	syndactyly		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:11782	astigmatism		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:12128	pica disease		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pica	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:12783	migraine without aura		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine without aura	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:12849	autistic disorder		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1321437	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868|PMID:28492532
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1324	lung cancer		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:13620	patent foramen ovale		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1380	endometrial cancer	onset	ISO	RGD:1321437	D	RGD:9068941	20210409	RGD		protein:decreased expression:endometrium (human)	PMID:23887303|REF_RGD_ID:126779522
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23097632|PMID:25741868|PMID:26069190|PMID:28492532|PMID:29736026|PMID:30343899|PMID:32868822|PMID:34386776|PMID:35101336
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1612	breast cancer	treatment	ISO	RGD:1321437	D	RGD:11072938|PMID:26069190	20210501	RGD		human cells in mouse model	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1657	ventricular septal defect		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1793	pancreatic cancer		ISO	RGD:1321437	D	RGD:8694154|PMID:23355908	20140725	RGD			
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1826	epilepsy		ISO	RGD:1321437	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1827	generalized epilepsy		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1909	melanoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1321437	D	RGD:11554173	20221108	CTD		CTD Direct Evidence: marker/mechanism	PMID:22426308
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1321437	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome	PMID:25741868|PMID:28492532
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:1925	Coffin-Siris syndrome		ISS	RGD:1321438	D	RGD:13592920	20230718	MouseDO			
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:2154	nephroblastoma		ISO	RGD:1321437	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:219	colon cancer	treatment	ISO	RGD:1321437	D	RGD:11072938|PMID:26069190	20210501	RGD		human cells in mouse model	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:2234	focal epilepsy		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:234	colon adenocarcinoma	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		protein:decreased expression:colorectum (human)	PMID:26980037|REF_RGD_ID:126790569
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822268
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:2841	asthma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:2870	endometrial adenocarcinoma	treatment	ISO	RGD:1321437	D	RGD:126725086|PMID:21900401	20210405	RGD		human cell in mouse model	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1321437	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:299	adenocarcinoma		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22484628
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1321437	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29376028
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:24436047|PMID:26138366|PMID:27993330|PMID:34166060
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:3275	thymoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:3717	gastric adenocarcinoma	disease_progression	ISO	RGD:1321437	D	RGD:126848753|PMID:25717252	20210428	RGD		protein:decreased expression:stomach (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:3717	gastric adenocarcinoma	exacerbates	ISO	RGD:1321437	D	RGD:125097488|PMID:22808142	20210331	RGD		mRNA, protein:decreased expression:mucosa of stomach (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:3717	gastric adenocarcinoma	severity	ISO	RGD:1321437	D	RGD:9068941	20210409	RGD		mRNA:decreased expression:mucosa of stomach (human)	PMID:24293408|REF_RGD_ID:125097521
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:3907	lung squamous cell carcinoma	exacerbates	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		protein:decreased expression:lung (human)	PMID:32823232|REF_RGD_ID:126848760
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1321437	D	RGD:126848781|PMID:24566899	20210503	RGD		protein:decreased expression:lung (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1321437	D	RGD:126848874|PMID:32791957	20210505	RGD		DNA:mutations	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma	PMID:24436047|PMID:26138366|PMID:27993330|PMID:34166060
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:30343899|PMID:34386776|PMID:35101336
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:4621	holoprosencephaly		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:480	movement disease		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:4907	small intestine carcinoma	exacerbates	ISO	RGD:1321437	D	RGD:9068941	20210416	RGD		protein:decreased expression:small intestine (human)	PMID:25400081|REF_RGD_ID:126781719
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23525077
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:4914	esophagus adenocarcinoma	disease_progression	ISO	RGD:1321437	D	RGD:127285649|PMID:31906887	20210624	RGD			
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:4927	Klatskin's tumor	disease_progression	ISO	RGD:1321437	D	RGD:126848756|PMID:33387086	20210428	RGD		DNA:deletions	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1321437	D	RGD:126775257|PMID:27433094	20210420	RGD		mRNA,protein:decreased expression:intrahepatic bile duct (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1321437	D	RGD:14974231|PMID:30849962	20190920	RGD			
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:4928	intrahepatic cholangiocarcinoma	exacerbates	ISO	RGD:1321437	D	RGD:126781775|PMID:31665232	20210420	RGD		protein:decreased expression:intrahepatic bile duct (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24185509
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1321437	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:540	strabismus		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:5517	stomach carcinoma	disease_progression	ISO	RGD:1321437	D	RGD:9068941	20210423	RGD		protein:decreased expression:stomach (human)	PMID:24767857|REF_RGD_ID:125097484
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:552	pneumonia		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:5744	ovary serous adenocarcinoma		ISO	RGD:1321437	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:6132	bronchitis		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic bronchitis	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:630	genetic disease		ISO	RGD:1321437	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22009941|PMID:22037554|PMID:25741868|PMID:28401006|PMID:28492532|PMID:29736026|PMID:35101336|PMID:35353340|PMID:36413997
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:6364	migraine		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:674	cleft palate		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:23097632|PMID:25741868|PMID:35101336
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561517|PMID:22634756|PMID:22922871
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321437	D	RGD:125097485|PMID:26589513	20210331	RGD		mRNA, protein:increased expression:liver (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321437	D	RGD:125097495|PMID:25975202	20210401	RGD		mRNA, protein:decreased expression:liver (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1321437	D	RGD:126790634|PMID:29136504	20210427	RGD		human gene in mouse model	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1321438	D	RGD:11344640|PMID:26569409	20210420	RGD		associated with non-alcoholic steatohepatitis	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1321438	D	RGD:126790634|PMID:29136504	20210427	RGD			
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1321438	D	RGD:125097519|PMID:29113912	20210402	RGD			
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:687	hepatoblastoma		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEPATOBLASTOMA	PMID:22009941|PMID:24382590|PMID:27993330|PMID:31217031|PMID:33080474|PMID:35421925
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:769	neuroblastoma		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23202128
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:769	neuroblastoma		ISO	RGD:1321437	D	RGD:13439724|PMID:23202128	20171012	RGD		DNA:mutations,loss of heterozygosity: :	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:7698	non-functioning pancreatic endocrine tumor	exacerbates	ISO	RGD:1321437	D	RGD:9068941	20210430	RGD		protein:decreased expression:endocrine pancreas (human)	PMID:32282764|REF_RGD_ID:126790640
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:850	lung disease		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:8541	Sezary's disease		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551670
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143597
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:8927	learning disability		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25701956
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22037554|PMID:22484628|PMID:24816253
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9000343	Vision Disorders		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal neoplasm	PMID:26384299|PMID:27993330|PMID:32111729
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1321438	D	RGD:125097495|PMID:25975202	20210401	RGD		in lung; associated with hepatocellular carcinoma	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9001581	Constipation		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9001586	Experimental Liver Neoplasms	disease_progression	ISO	RGD:1321438	D	RGD:11344640|PMID:26569409	20210421	RGD			
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:28492532
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321437	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475|PMID:29662167
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9002720	Splenomegaly		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25168959|PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532|PMID:35353340
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	PMID:23097632|PMID:25741868|PMID:35101336
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321437	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9004898	Jaundice		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25168959|PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:23097632|PMID:25741868|PMID:35101336
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9005077	Joint Instability		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:35353340
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9005616	Micrognathism		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:23097632|PMID:25741868|PMID:35101336
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9006741	Acute Hepatitis	exacerbates	ISO	RGD:1321438	D	RGD:11344640|PMID:26569409	20210420	RGD			
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:28492532
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9007573	Flatfoot		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:28492532
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9007651	Chronic Bronchitis		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic bronchitis	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9007661	Dwarfism		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1321437	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104009
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321437	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:35353340
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1321437	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:25741868
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1321437	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27941798
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1321437	D	RGD:11554173	20200310	CTD		CTD Direct Evidence: marker/mechanism	PMID:31932695
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9256	colorectal cancer		ISO	RGD:1321437	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: colorectal cancer	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1321437	D	RGD:126779574|PMID:25561809	20210408	RGD		protein:decreased expression:colorectum (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1321437	D	RGD:126777686|PMID:31263894	20210408	RGD		protein:decreased expression:colorectum (human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9261	nasopharynx carcinoma	disease_progression	ISO	RGD:1321437	D	RGD:126781707|PMID:31213911	20210416	RGD		protein:decreased expression:nasopharynx(human)	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9840	esotropia		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esodeviation	
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:23097632|PMID:25741868|PMID:35101336
1310500	Arid1a	AT-rich interaction domain 1A	gene	DOID:9970	obesity		ISO	RGD:1321437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1310501	Ankrd10	ankyrin repeat domain 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310501	Ankrd10	ankyrin repeat domain 10	gene	DOID:1324	lung cancer		ISO	RGD:1321439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310501	Ankrd10	ankyrin repeat domain 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310501	Ankrd10	ankyrin repeat domain 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310501	Ankrd10	ankyrin repeat domain 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310502	Phlda3	pleckstrin homology-like domain, family A, member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310502	Phlda3	pleckstrin homology-like domain, family A, member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310502	Phlda3	pleckstrin homology-like domain, family A, member 3	gene	DOID:5844	myocardial infarction		ISO	RGD:1321441	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34351043
1310502	Phlda3	pleckstrin homology-like domain, family A, member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310502	Phlda3	pleckstrin homology-like domain, family A, member 3	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1321441	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34351043
1310503	Pih1d2	PIH1 domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1605009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310503	Pih1d2	PIH1 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310503	Pih1d2	PIH1 domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310504	Elk4	ETS transcription factor ELK4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310504	Elk4	ETS transcription factor ELK4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310504	Elk4	ETS transcription factor ELK4	gene	DOID:1324	lung cancer		ISO	RGD:1321444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310504	Elk4	ETS transcription factor ELK4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310504	Elk4	ETS transcription factor ELK4	gene	DOID:5041	esophageal cancer		ISO	RGD:1321444	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310504	Elk4	ETS transcription factor ELK4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310505	Osbp2	oxysterol binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321446	D	RGD:41404644|PMID:21763455	20210129	RGD		mRNA:increased expression:blood	
1310505	Osbp2	oxysterol binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310506	Slitrk3	SLIT and NTRK-like family, member 3	gene	DOID:1059	intellectual disability		ISO	RGD:1321448	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1310506	Slitrk3	SLIT and NTRK-like family, member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310506	Slitrk3	SLIT and NTRK-like family, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310508	Adss2	adenylosuccinate synthase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310508	Adss2	adenylosuccinate synthase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310508	Adss2	adenylosuccinate synthase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310508	Adss2	adenylosuccinate synthase 2	gene	DOID:1115	sarcoma		IEP		D	RGD:5143928|PMID:2560335	20110727	RGD		protein:increased activity:tumor (rat)	
1310508	Adss2	adenylosuccinate synthase 2	gene	DOID:1115	sarcoma		ISO	RGD:1321450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310508	Adss2	adenylosuccinate synthase 2	gene	DOID:1909	melanoma		ISO	RGD:1321450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310508	Adss2	adenylosuccinate synthase 2	gene	DOID:3275	thymoma		ISO	RGD:1321450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310508	Adss2	adenylosuccinate synthase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310508	Adss2	adenylosuccinate synthase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321450	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310508	Adss2	adenylosuccinate synthase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310508	Adss2	adenylosuccinate synthase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310508	Adss2	adenylosuccinate synthase 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1321450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1310508	Adss2	adenylosuccinate synthase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310508	Adss2	adenylosuccinate synthase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310509	Ccp110	centriolar coiled-coil protein 110	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310509	Ccp110	centriolar coiled-coil protein 110	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310509	Ccp110	centriolar coiled-coil protein 110	gene	DOID:1115	sarcoma		ISO	RGD:1605415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310509	Ccp110	centriolar coiled-coil protein 110	gene	DOID:3275	thymoma		ISO	RGD:1605415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310509	Ccp110	centriolar coiled-coil protein 110	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605415	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310510	Cfhr1	complement factor H-related 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1346225	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
1310510	Cfhr1	complement factor H-related 1	gene	DOID:0070028	APP-related cerebral amyloid angiopathy		ISO	RGD:1346225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related	PMID:25741868
1310510	Cfhr1	complement factor H-related 1	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346225	D	RGD:11041162|PMID:23243267	20160323	RGD		DNA:deletion	
1310510	Cfhr1	complement factor H-related 1	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346225	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310510	Cfhr1	complement factor H-related 1	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346225	D	RGD:7240710	20260722	OMIM			
1310510	Cfhr1	complement factor H-related 1	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346225	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:16998489|PMID:17367211|PMID:18006700|PMID:20843825|PMID:25741868|PMID:26284228|PMID:28339660|PMID:28911789|PMID:28993505|PMID:33651882|PMID:33732239
1310510	Cfhr1	complement factor H-related 1	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346225	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:25741868|PMID:35730179
1310510	Cfhr1	complement factor H-related 1	gene	DOID:0110014	age related macular degeneration 1		ISO	RGD:1346225	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310510	Cfhr1	complement factor H-related 1	gene	DOID:0110014	age related macular degeneration 1		ISO	RGD:1346225	D	RGD:7240710	20260722	OMIM			
1310510	Cfhr1	complement factor H-related 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310510	Cfhr1	complement factor H-related 1	gene	DOID:1909	melanoma		ISO	RGD:1346225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310510	Cfhr1	complement factor H-related 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1346225	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21399633
1310510	Cfhr1	complement factor H-related 1	gene	DOID:557	kidney disease		ISO	RGD:1346225	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:25741868
1310510	Cfhr1	complement factor H-related 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1346225	D	RGD:8554872	20200609	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868
1310510	Cfhr1	complement factor H-related 1	gene	DOID:9007806	Drug Hypersensitivity Syndrome		ISO	RGD:1346225	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
1310510	Cfhr1	complement factor H-related 1	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:1346225	D	RGD:11341662|PMID:26317246	20160630	RGD		DNA:deletion: :	
1310510	Cfhr1	complement factor H-related 1	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:1346225	D	RGD:11040544|PMID:22348216	20160630	RGD			
1310511	Mybphl	myosin binding protein H-like	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1606910	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:25741868|PMID:28778945|PMID:35533732
1310511	Mybphl	myosin binding protein H-like	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1606910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28778945|PMID:35533732
1310511	Mybphl	myosin binding protein H-like	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1606910	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
1310511	Mybphl	myosin binding protein H-like	gene	DOID:2843	long QT syndrome		ISO	RGD:1606910	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1310511	Mybphl	myosin binding protein H-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310511	Mybphl	myosin binding protein H-like	gene	DOID:9002919	Sudden Unexpected Nocturnal Death Syndrome		ISO	RGD:1606910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome	PMID:25741868|PMID:28778945|PMID:35533732
1310511	Mybphl	myosin binding protein H-like	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1606910	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:16199547|PMID:20074988|PMID:23714749|PMID:25741868|PMID:28492532
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0070329	mitochondrial DNA depletion syndrome		ISO	RGD:1353525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome	PMID:17576681|PMID:18329934|PMID:20614188|PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987|PMID:9536098
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0080121	mitochondrial DNA depletion syndrome 3		ISS	RGD:1619253	D	RGD:13592920	20180518	MouseDO		OMIM:251880	
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0080125	mitochondrial DNA depletion syndrome 6		ISO	RGD:1353525	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0080125	mitochondrial DNA depletion syndrome 6		ISO	RGD:1353525	D	RGD:7240710	20130221	OMIM			
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0080125	mitochondrial DNA depletion syndrome 6		ISO	RGD:1353525	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	PMID:16199547|PMID:16582910|PMID:16909392|PMID:17576681|PMID:17694548|PMID:18261905|PMID:18695062|PMID:19012992|PMID:19520594|PMID:20074988|PMID:22508010|PMID:22964873|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25016221|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26467025|PMID:26741492|PMID:27536553|PMID:27848944|PMID:28207748|PMID:28209105|PMID:28492532|PMID:28673863|PMID:28776642|PMID:29282788|PMID:29318572|PMID:30273399|PMID:30298599|PMID:30782936|PMID:30833296|PMID:31319225|PMID:31664948|PMID:31673878|PMID:31674169|PMID:32703289|PMID:33258288|PMID:33486010|PMID:34476298|PMID:34979697|PMID:36753038|PMID:37712079|PMID:38703036|PMID:9536098
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0080125	mitochondrial DNA depletion syndrome 6		ISO	RGD:1353525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) | ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | ClinVar Annotator: match by term: Navajo neurohepatopathy	PMID:16199547|PMID:17694548|PMID:18695062|PMID:19520594|PMID:20074988|PMID:23714749|PMID:23829229|PMID:25129007|PMID:25741868|PMID:27536553|PMID:28207748|PMID:28492532|PMID:29282788|PMID:29318572|PMID:30782936|PMID:31319225|PMID:32827528|PMID:36753038|PMID:37184518|PMID:37712079|PMID:38180987
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0110033	Alport syndrome 2		ISS	RGD:1619253	D	RGD:13592920	20180518	MouseDO		OMIM:203780	
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0111559	Charcot-Marie-Tooth disease type 2EE		ISO	RGD:1353525	D	RGD:7240710	20190515	OMIM			
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:0111559	Charcot-Marie-Tooth disease type 2EE		ISO	RGD:1353525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE | ClinVar Annotator: match by term: MPV17-related condition	PMID:16199547|PMID:17576681|PMID:19520594|PMID:20074988|PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:31664948|PMID:32827528|PMID:37184518|PMID:38180987|PMID:9536098
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:10123	pigmentation disease		ISO	RGD:1353525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18818194
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:10534	stomach cancer		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:11830	myopia		ISO	RGD:1353525	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:1184	nephrotic syndrome		ISS	RGD:1619253	D	RGD:13592920	20180518	MouseDO		OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861	
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:23714749|PMID:25741868
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1353525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18818194
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:13580	cholestasis		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:1596	depressive disorder		ISO	RGD:1353525	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Depression	PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:1826	epilepsy		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:23714749|PMID:25741868
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:1909	melanoma		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:2030	anxiety disorder		ISO	RGD:1353525	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:3087	gingivitis		ISO	RGD:1353525	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:5463	cochlear disease		ISO	RGD:1353525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18818194
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:576	proteinuria		ISO	RGD:1353525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18818194
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:630	genetic disease		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1353525	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18818194
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:824	periodontitis		ISO	RGD:1353525	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:870	neuropathy		ISO	RGD:1353525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: peripheral neuropathy	PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:9000761	Deoxyguanosine Kinase Deficiency		ISO	RGD:1353525	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hepatocerebral Mitochondrial DNA Depletion Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form	PMID:16199547|PMID:16582910|PMID:16909392|PMID:17694548|PMID:18261905|PMID:18695062|PMID:19012992|PMID:19520594|PMID:19748572|PMID:20074988|PMID:22508010|PMID:22964873|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26467025|PMID:26741492|PMID:27536553|PMID:28209105|PMID:28492532|PMID:28673863|PMID:28776642|PMID:29282788|PMID:30273399|PMID:30298599|PMID:30833296|PMID:31319225|PMID:32703289|PMID:32827528|PMID:33242146|PMID:33486010|PMID:34476298|PMID:34624274|PMID:34979697|PMID:36753038|PMID:37184518|PMID:38180987
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:23714749|PMID:25741868
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353525	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Facial hypotonia	PMID:23714749|PMID:23829229|PMID:25741868|PMID:28492532|PMID:32827528|PMID:37184518|PMID:38180987
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:9006030	Infant Death		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Death in infancy	PMID:23714749|PMID:25741868
1310512	Mpv17	mitochondrial inner membrane protein MPV17	gene	DOID:9452	steatotic liver disease		ISO	RGD:1353525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:23714749|PMID:25741868
1310513	Usp49	ubiquitin specific peptidase 49	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310513	Usp49	ubiquitin specific peptidase 49	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310513	Usp49	ubiquitin specific peptidase 49	gene	DOID:5041	esophageal cancer		ISO	RGD:1601875	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310513	Usp49	ubiquitin specific peptidase 49	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310513	Usp49	ubiquitin specific peptidase 49	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310513	Usp49	ubiquitin specific peptidase 49	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310513	Usp49	ubiquitin specific peptidase 49	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310513	Usp49	ubiquitin specific peptidase 49	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310514	Nubp1	NUBP iron-sulfur cluster assembly factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310514	Nubp1	NUBP iron-sulfur cluster assembly factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310514	Nubp1	NUBP iron-sulfur cluster assembly factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310514	Nubp1	NUBP iron-sulfur cluster assembly factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310514	Nubp1	NUBP iron-sulfur cluster assembly factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1321458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310514	Nubp1	NUBP iron-sulfur cluster assembly factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310514	Nubp1	NUBP iron-sulfur cluster assembly factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:0110880	holoprosencephaly 4		ISO	RGD:1321463	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:0110880	holoprosencephaly 4		ISO	RGD:1321463	D	RGD:7240710	20190315	OMIM			
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:0110880	holoprosencephaly 4		ISO	RGD:1321463	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HOLOPROSENCEPHALY 4 | ClinVar Annotator: match by term: Holoprosencephaly 4 | ClinVar Annotator: match by term: TGIF1-related condition | ClinVar Annotator: match by term: holoprosencephaly 4	PMID:10835638|PMID:11810641|PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:21940735|PMID:22125506|PMID:25741868|PMID:28492532|PMID:34440302
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:10754	otitis media		ISS	RGD:1321464	D	RGD:13592920	20180518	MouseDO		OMIM:166760	
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:4621	holoprosencephaly		ISO	RGD:1321463	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16705179
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:4621	holoprosencephaly		ISO	RGD:1321463	D	RGD:1599407|PMID:10835638	20070201	RGD		holoprosencephaly-4, OMIM:142946	
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:4621	holoprosencephaly		ISO	RGD:1321463	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly	
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321463	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1321463	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:767	muscular atrophy		IEP		D	RGD:1641826|PMID:14718385	20100319	RGD		associated with Carcinoma, Hepatocellular; mRNA:increased expression:gastrocnemius muscle (rat)	
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1321463	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: therapeutic	PMID:29746904
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:9002165	Diabetic Nephropathies		IEP		D	RGD:1599409|PMID:15153551	20070201	RGD		protein:decreased expression:glomerulus (rat)	
1310517	Tgif1	TGFB-induced factor homeobox 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1321463	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25791921
1310518	Ptgr2	prostaglandin reductase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310518	Ptgr2	prostaglandin reductase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310518	Ptgr2	prostaglandin reductase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310518	Ptgr2	prostaglandin reductase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1321465	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	
1310518	Ptgr2	prostaglandin reductase 2	gene	DOID:1115	sarcoma		ISO	RGD:1321465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310518	Ptgr2	prostaglandin reductase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310518	Ptgr2	prostaglandin reductase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310518	Ptgr2	prostaglandin reductase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310518	Ptgr2	prostaglandin reductase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310518	Ptgr2	prostaglandin reductase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310518	Ptgr2	prostaglandin reductase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310519	Tnfaip8l2	TNF alpha induced protein 8 like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1606238	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310520	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310520	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:1115	sarcoma		ISO	RGD:1606717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310520	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:1324	lung cancer		ISO	RGD:1606717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310520	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:1909	melanoma		ISO	RGD:1606717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310520	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1606717	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310520	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310520	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310520	Gpat4	glycerol-3-phosphate acyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310521	Ranbp1	RAN binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310521	Ranbp1	RAN binding protein 1	gene	DOID:11446	sciatic neuropathy		IEP		D	RGD:9835000|PMID:18667152	20150311	RGD		protein:increased expression:sciatic nerve (rat)	
1310521	Ranbp1	RAN binding protein 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1321469	D	RGD:9835001|PMID:25341891	20150311	RGD		protein:decreased expression:heart ventricle, cytoplasm (human)	
1310521	Ranbp1	RAN binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1321469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310521	Ranbp1	RAN binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310521	Ranbp1	RAN binding protein 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1321469	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1310521	Ranbp1	RAN binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310521	Ranbp1	RAN binding protein 1	gene	DOID:5844	myocardial infarction		IEP		D	RGD:9835001|PMID:25341891	20150311	RGD		protein:decreased expression:heart ventricle, cytoplasm (rat)	
1310521	Ranbp1	RAN binding protein 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1321469	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:28321044
1310521	Ranbp1	RAN binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310521	Ranbp1	RAN binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321469	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310523	Ifi44	interferon-induced protein 44	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310523	Ifi44	interferon-induced protein 44	gene	DOID:0080600	COVID-19		ISO	RGD:1321473	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310523	Ifi44	interferon-induced protein 44	gene	DOID:0080711	multisystem inflammatory syndrome in children		ISO	RGD:1321473	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children	
1310523	Ifi44	interferon-induced protein 44	gene	DOID:1115	sarcoma		ISO	RGD:1321473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310523	Ifi44	interferon-induced protein 44	gene	DOID:4362	cervical cancer		ISO	RGD:1321473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310523	Ifi44	interferon-induced protein 44	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310523	Ifi44	interferon-induced protein 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310523	Ifi44	interferon-induced protein 44	gene	DOID:9001488	Human Influenza		ISO	RGD:1321473	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1310523	Ifi44	interferon-induced protein 44	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1321473	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1310523	Ifi44	interferon-induced protein 44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:1115	sarcoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:1324	lung cancer		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:1909	melanoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:3275	thymoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606845	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1606845	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16204055
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:9002928	Colonic Neoplasms	exacerbates	ISO	RGD:1553510	D	RGD:152977751|PMID:16204055	20220602	RGD			
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310524	Parp4	poly (ADP-ribose) polymerase family, member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:0081242	autoimmune interstitial lung, joint, and kidney disease		ISO	RGD:1321477	D	RGD:7240710	20160413	OMIM			
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:0081242	autoimmune interstitial lung, joint, and kidney disease		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATION AND AUTOIMMUNITY, SYSTEMIC, WITH IMMUNE DYSREGULATION 1 | ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome | ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease | ClinVar Annotator: match by term: COPA-related condition | ClinVar Annotator: match by term: autoimmune interstitial lung disease-arthritis syndrome	PMID:17576681|PMID:25741868|PMID:25894502|PMID:27048656|PMID:27577878|PMID:28492532|PMID:29137621|PMID:30804679|PMID:31455335|PMID:31905480|PMID:32040879|PMID:32778887|PMID:32919065|PMID:38175705|PMID:9536098
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:0081242	autoimmune interstitial lung, joint, and kidney disease		ISS	RGD:1321478	D	RGD:13592920	20230718	MouseDO		OMIM:616414	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:1909	melanoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:3082	interstitial lung disease		ISO	RGD:1321477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25894502
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:417	autoimmune disease		ISO	RGD:1321477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25894502
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1321477	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:6039	uveal melanoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:848	arthritis		ISO	RGD:1321477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25894502
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:850	lung disease		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:1321477	D	RGD:11554173	20260707	CTD		CTD Direct Evidence: marker/mechanism	PMID:42286202
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310525	Copa	coat protein complex I subunit alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310526	Ndn	necdin, MAGE family member	gene	DOID:11983	Prader-Willi syndrome		ISO	RGD:1321479	D	RGD:1601480|PMID:9630521	20070423	RGD			
1310526	Ndn	necdin, MAGE family member	gene	DOID:11983	Prader-Willi syndrome		ISO	RGD:1321479	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Prader-Willi syndrome	PMID:25741868
1310526	Ndn	necdin, MAGE family member	gene	DOID:11983	Prader-Willi syndrome		ISS	RGD:1321480	D	RGD:13592920	20220811	MouseDO		OMIM:176270	
1310526	Ndn	necdin, MAGE family member	gene	DOID:12849	autistic disorder		ISO	RGD:14703056	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome	PMID:25741868
1310526	Ndn	necdin, MAGE family member	gene	DOID:305	carcinoma		ISO	RGD:1321479	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21489049
1310526	Ndn	necdin, MAGE family member	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1321479	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21489049
1310526	Ndn	necdin, MAGE family member	gene	DOID:9003996	Birth Weight		ISO	RGD:1321479	D	RGD:11554173	20200114	CTD		CTD Direct Evidence: marker/mechanism	PMID:31082282
1310528	Rhoj	ras homolog family member J	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1321483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21037199
1310528	Rhoj	ras homolog family member J	gene	DOID:1115	sarcoma		ISO	RGD:1321483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310528	Rhoj	ras homolog family member J	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310528	Rhoj	ras homolog family member J	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321483	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310528	Rhoj	ras homolog family member J	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1321483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
1310529	Ap4b1	adaptor related protein complex 4 subunit beta 1	gene	DOID:0110799	hereditary spastic paraplegia 47		ISO	RGD:1321485	D	RGD:7240710	20140911	OMIM			
1310529	Ap4b1	adaptor related protein complex 4 subunit beta 1	gene	DOID:0110799	hereditary spastic paraplegia 47		ISO	RGD:1321485	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive	PMID:17576681|PMID:18414213|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25693842|PMID:25741868|PMID:26350204|PMID:27625858|PMID:28492532|PMID:29193663|PMID:30337681|PMID:32979048|PMID:9536098
1310529	Ap4b1	adaptor related protein complex 4 subunit beta 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1321485	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532
1310529	Ap4b1	adaptor related protein complex 4 subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310529	Ap4b1	adaptor related protein complex 4 subunit beta 1	gene	DOID:607	paraplegia		ISO	RGD:1321485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:18414213|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25693842|PMID:25741868|PMID:27625858|PMID:28492532|PMID:29193663|PMID:30337681|PMID:32979048
1310529	Ap4b1	adaptor related protein complex 4 subunit beta 1	gene	DOID:630	genetic disease		ISO	RGD:1321485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:25693842|PMID:25741868|PMID:27625858|PMID:28492532|PMID:32979048
1310529	Ap4b1	adaptor related protein complex 4 subunit beta 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	PMID:22290197|PMID:24700674|PMID:24781758|PMID:26795593|PMID:28492532|PMID:32979048
1310530	Azi2	5-azacytidine induced 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310530	Azi2	5-azacytidine induced 2	gene	DOID:1115	sarcoma		ISO	RGD:1605352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310530	Azi2	5-azacytidine induced 2	gene	DOID:1324	lung cancer		ISO	RGD:1605352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310530	Azi2	5-azacytidine induced 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310530	Azi2	5-azacytidine induced 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310531	Pank3	pantothenate kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310531	Pank3	pantothenate kinase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310531	Pank3	pantothenate kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310531	Pank3	pantothenate kinase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310531	Pank3	pantothenate kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310531	Pank3	pantothenate kinase 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1321488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310531	Pank3	pantothenate kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310531	Pank3	pantothenate kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310532	Cpm	carboxypeptidase M	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310532	Cpm	carboxypeptidase M	gene	DOID:10325	silicosis		ISO	RGD:1321490	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24986923
1310532	Cpm	carboxypeptidase M	gene	DOID:12849	autistic disorder		ISO	RGD:1321490	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1310532	Cpm	carboxypeptidase M	gene	DOID:1324	lung cancer		ISO	RGD:1321490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310532	Cpm	carboxypeptidase M	gene	DOID:289	endometriosis		ISO	RGD:1321490	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1310532	Cpm	carboxypeptidase M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310532	Cpm	carboxypeptidase M	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310533	Crbn	cereblon	gene	DOID:0060308	autosomal recessive intellectual developmental disorder		ISS	RGD:1321492	D	RGD:13592920	20180518	MouseDO		OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942	
1310533	Crbn	cereblon	gene	DOID:0081178	autosomal recessive intellectual developmental disorder 2		ISO	RGD:1321492	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310533	Crbn	cereblon	gene	DOID:0081178	autosomal recessive intellectual developmental disorder 2		ISO	RGD:1321492	D	RGD:7240710	20130221	OMIM			
1310533	Crbn	cereblon	gene	DOID:0081178	autosomal recessive intellectual developmental disorder 2		ISO	RGD:1321492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2	PMID:25741868
1310533	Crbn	cereblon	gene	DOID:10534	stomach cancer		ISO	RGD:1321492	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310533	Crbn	cereblon	gene	DOID:4362	cervical cancer		ISO	RGD:1321492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310533	Crbn	cereblon	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310533	Crbn	cereblon	gene	DOID:5041	esophageal cancer		ISO	RGD:1321492	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310533	Crbn	cereblon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310533	Crbn	cereblon	gene	DOID:630	genetic disease		ISO	RGD:1321492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1310533	Crbn	cereblon	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310533	Crbn	cereblon	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321492	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27751757
1310533	Crbn	cereblon	gene	DOID:9007828	Abnormalities, Drug-Induced		ISO	RGD:1321492	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27751757
1310533	Crbn	cereblon	gene	DOID:9256	colorectal cancer		ISO	RGD:1321492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	
1310533	Crbn	cereblon	gene	DOID:9538	multiple myeloma		ISO	RGD:1321492	D	RGD:11554173	20180410	CTD		CTD Direct Evidence: marker/mechanism	PMID:26186254
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:1115	sarcoma		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:1324	lung cancer		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:3275	thymoma		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:4362	cervical cancer		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:4481	allergic rhinitis		ISO	RGD:1321494	D	RGD:640476621|PMID:32082391	20260316	RGD		DNA:SNP: :rs9865818	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:5041	esophageal cancer		ISO	RGD:1321494	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:5419	schizophrenia		ISO	RGD:1321494	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1321494	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321494	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321494	D	RGD:7240710	20130221	OMIM			
1310535	Lpp	LIM domain containing preferred translocation partner in lipoma	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321494	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: LPP-related condition	PMID:25741868|PMID:28492532
1310536	Zfp787	zinc finger protein 787	gene	DOID:13501	Moebius syndrome		ISO	RGD:1603274	D	RGD:8554872	20161011	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	
1310536	Zfp787	zinc finger protein 787	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310537	Ipo9	importin 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310537	Ipo9	importin 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310537	Ipo9	importin 9	gene	DOID:10534	stomach cancer		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310537	Ipo9	importin 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310537	Ipo9	importin 9	gene	DOID:1324	lung cancer		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310537	Ipo9	importin 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310537	Ipo9	importin 9	gene	DOID:3070	high grade glioma		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310537	Ipo9	importin 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310537	Ipo9	importin 9	gene	DOID:4362	cervical cancer		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310537	Ipo9	importin 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310537	Ipo9	importin 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1321497	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310537	Ipo9	importin 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310537	Ipo9	importin 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310537	Ipo9	importin 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310537	Ipo9	importin 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310537	Ipo9	importin 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310537	Ipo9	importin 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310538	Lman1l	lectin, mannose-binding, 1 like	gene	DOID:10283	prostate cancer		ISO	RGD:1321499	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310538	Lman1l	lectin, mannose-binding, 1 like	gene	DOID:10283	prostate cancer		ISO	RGD:1321499	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310538	Lman1l	lectin, mannose-binding, 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1321499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310538	Lman1l	lectin, mannose-binding, 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310538	Lman1l	lectin, mannose-binding, 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310539	Hoxc12	homeo box C12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310539	Hoxc12	homeo box C12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310541	Mrpl32	mitochondrial ribosomal protein L32	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310541	Mrpl32	mitochondrial ribosomal protein L32	gene	DOID:1324	lung cancer		ISO	RGD:1321503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Situs ambiguus	PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606172	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:0110618	primary ciliary dyskinesia 13		ISO	RGD:1606172	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:0110618	primary ciliary dyskinesia 13		ISO	RGD:1606172	D	RGD:7240710	20190315	OMIM			
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:0110618	primary ciliary dyskinesia 13		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 13 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 13, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DNAAF1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 13	PMID:16199547|PMID:17576681|PMID:19944400|PMID:19944405|PMID:22499950|PMID:24033266|PMID:24498942|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532|PMID:31213628|PMID:38432987|PMID:9536098
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1606172	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:19944400|PMID:19944405|PMID:25741868|PMID:28492532
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:1909	melanoma		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:16199547|PMID:19944400|PMID:19944405|PMID:25741868|PMID:28492532
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606172	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Laterality sequence	PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:28492532
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310542	Dnaaf1	dynein, axonemal, assembly factor 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary Ciliary Dyskinesia | ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:19944400|PMID:19944405|PMID:22499950|PMID:24033266|PMID:24307375|PMID:25158045|PMID:25741868|PMID:27543293|PMID:27884173|PMID:28492532|PMID:28991257|PMID:29228333|PMID:30067075|PMID:31213628|PMID:34215651|PMID:34556108|PMID:34768622|PMID:9536098
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:1115	sarcoma		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:1909	melanoma		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:3133	acute porphyria		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute Porphyria	PMID:28492532
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:3890	acute intermittent porphyria		ISO	RGD:1321507	D	RGD:4145363|PMID:11929050	20101102	RGD		DNA:missense mutation:exon:p.R59W (mouse)	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:4346	variegate porphyria		ISO	RGD:1321506	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:4346	variegate porphyria		ISO	RGD:1321506	D	RGD:7240710	20180207	OMIM			
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:4346	variegate porphyria		ISO	RGD:1321506	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PPOX-related condition | ClinVar Annotator: match by term: VARIEGATE PORPHYRIA | ClinVar Annotator: match by term: Variegate Porphyria | ClinVar Annotator: match by term: Variegate porphyria | ClinVar Annotator: match by term: variegate porphyria	PMID:10486317|PMID:10870850|PMID:11286631|PMID:11298551|PMID:11929051|PMID:12380696|PMID:12655566|PMID:12922165|PMID:16433813|PMID:18570668|PMID:1946837|PMID:21048046|PMID:21910705|PMID:23324528|PMID:23409300|PMID:23430901|PMID:24997713|PMID:25741868|PMID:27982422|PMID:28492532|PMID:30385147|PMID:33159949|PMID:8852667|PMID:9829909
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:4346	variegate porphyria		ISS	RGD:1321507	D	RGD:13592920	20230718	MouseDO		OMIM:176200	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:4362	cervical cancer		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:630	genetic disease		ISO	RGD:1321506	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10486317|PMID:11474578|PMID:11929051|PMID:12859407|PMID:21048046|PMID:24073655|PMID:25741868|PMID:28492532|PMID:9763307
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:6364	migraine		ISO	RGD:1321506	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:9001581	Constipation		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:1321506	D	RGD:1599172|PMID:8852667	20070118	RGD		DNA:missense mutation:cds:p.G232R (human)	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:1321506	D	RGD:1599174|PMID:9254745	20070118	RGD		DNA:transition:cds:p.R59W (human)	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:1321506	D	RGD:1599176|PMID:10486317	20070118	RGD		DNA:mutations:cds:multiple (human)	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:1321507	D	RGD:4145281|PMID:9431441	20101028	RGD		protein:decreased activity:liver, kidney (mouse)	
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:9007255	Variegate Porphyria, Childhood-Onset		ISO	RGD:1321506	D	RGD:7240710	20230906	OMIM			
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:9007255	Variegate Porphyria, Childhood-Onset		ISO	RGD:1321506	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Variegate porphyria, childhood-onset	PMID:12699245|PMID:12922165|PMID:21048046|PMID:21910705|PMID:23409300|PMID:25741868|PMID:28492532|PMID:33159949|PMID:8673113|PMID:8817334|PMID:9540991|PMID:9811936
1310543	Ppox	protoporphyrinogen oxidase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1321506	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
1310544	Plekhf1	pleckstrin homology and FYVE domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310544	Plekhf1	pleckstrin homology and FYVE domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1321508	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310544	Plekhf1	pleckstrin homology and FYVE domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1321508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310544	Plekhf1	pleckstrin homology and FYVE domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321508	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310544	Plekhf1	pleckstrin homology and FYVE domain containing 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1321508	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
1310544	Plekhf1	pleckstrin homology and FYVE domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310545	Slc29a4	solute carrier family 29 member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310545	Slc29a4	solute carrier family 29 member 4	gene	DOID:1115	sarcoma		ISO	RGD:1321510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310545	Slc29a4	solute carrier family 29 member 4	gene	DOID:3275	thymoma		ISO	RGD:1321510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310545	Slc29a4	solute carrier family 29 member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1321510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310545	Slc29a4	solute carrier family 29 member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1321510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310545	Slc29a4	solute carrier family 29 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310545	Slc29a4	solute carrier family 29 member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310545	Slc29a4	solute carrier family 29 member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310545	Slc29a4	solute carrier family 29 member 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1321510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310546	Rtp3	receptor (chemosensory) transporter protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17693185
1310546	Rtp3	receptor (chemosensory) transporter protein 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310546	Rtp3	receptor (chemosensory) transporter protein 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1353966	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:17693185
1310547	Cbfa2t3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310547	Cbfa2t3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310547	Cbfa2t3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:1324	lung cancer		ISO	RGD:1321512	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1310547	Cbfa2t3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310547	Cbfa2t3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310547	Cbfa2t3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310547	Cbfa2t3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	PMID:24033266|PMID:25741868|PMID:28492532
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:0060541	Hermansky-Pudlak syndrome 3		ISO	RGD:1321513	D	RGD:11041885|PMID:11590544	20160401	RGD		DNA:splice-site mutation:intron:1303+1G>A (human)	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:0060541	Hermansky-Pudlak syndrome 3		ISO	RGD:1321513	D	RGD:7240710	20140911	OMIM			
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:0060541	Hermansky-Pudlak syndrome 3		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HPS3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3	PMID:11590544|PMID:16199547|PMID:18414213|PMID:24033266|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31898847|PMID:32725903
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:0060541	Hermansky-Pudlak syndrome 3		ISS	RGD:1321514	D	RGD:13592920	20230718	MouseDO		OMIM:614072	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:10283	prostate cancer		ISO	RGD:1321513	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:10283	prostate cancer		ISO	RGD:1321513	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1321513	D	RGD:8554872	20211214	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:2223	platelet storage pool deficiency		ISS	RGD:1321514	D	RGD:13592920	20180518	MouseDO		OMIM:185050	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1321513	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1321513	D	RGD:1599538|PMID:11455388	20070207	RGD		DNA:deletion:	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1321513	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak Syndrome | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome	PMID:11590544|PMID:15632015|PMID:17933573|PMID:24033266|PMID:25741868|PMID:25949529|PMID:26575419|PMID:27593200|PMID:28492532|PMID:30387913|PMID:30791930|PMID:31064749|PMID:31141302|PMID:31898847|PMID:32581362|PMID:32725903|PMID:32969595|PMID:33423334|PMID:34303877|PMID:35886065|PMID:36162005
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321513	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1321513	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310548	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1321515	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:0070262	congenital disorder of glycosylation type IIj		ISO	RGD:1321515	D	RGD:7240710	20130221	OMIM			
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:0070262	congenital disorder of glycosylation type IIj		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COG4-CDG | ClinVar Annotator: match by term: COG4-related condition | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2J	PMID:21185756|PMID:25741868|PMID:28492532|PMID:32064623
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:0111673	Saul-Wilson syndrome		ISO	RGD:1321515	D	RGD:7240710	20190315	OMIM			
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:0111673	Saul-Wilson syndrome		ISO	RGD:1321515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA | ClinVar Annotator: match by term: Microcephalic osteodysplastic dysplasia, Saul-Wilson type | ClinVar Annotator: match by term: SAUL-WILSON SYNDROME	PMID:21185756|PMID:25741868|PMID:28492532|PMID:31949312|PMID:32064623
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:11830	myopia		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:19494034|PMID:21185756|PMID:24033266|PMID:25741868
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:12849	autistic disorder		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 17 | ClinVar Annotator: match by term: Autistic behavior	PMID:19494034|PMID:21185756|PMID:24033266|PMID:25741868
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:1324	lung cancer		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:1826	epilepsy		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:19494034|PMID:21185756|PMID:24033266|PMID:25741868
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:1909	melanoma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:1969	cerebral palsy		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:2030	anxiety disorder		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:3070	high grade glioma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:4362	cervical cancer		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:480	movement disease		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:630	genetic disease		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16199547|PMID:21185756|PMID:28492532
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:9005077	Joint Instability		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:19494034|PMID:21185756|PMID:24033266|PMID:25741868
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia	PMID:19494034|PMID:19651599|PMID:21185756|PMID:24033266|PMID:25741868
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:19494034|PMID:21185756|PMID:24033266|PMID:25741868
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1310549	Cog4	component of oligomeric golgi complex 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310551	Tulp2	TUB like protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310551	Tulp2	TUB like protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310551	Tulp2	TUB like protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1321519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310551	Tulp2	TUB like protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1321519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310551	Tulp2	TUB like protein 2	gene	DOID:1909	melanoma		ISO	RGD:1321519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310551	Tulp2	TUB like protein 2	gene	DOID:3275	thymoma		ISO	RGD:1321519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310551	Tulp2	TUB like protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310551	Tulp2	TUB like protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310552	Atosa	atos homolog A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310552	Atosa	atos homolog A	gene	DOID:1909	melanoma		ISO	RGD:1606264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310552	Atosa	atos homolog A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310552	Atosa	atos homolog A	gene	DOID:3275	thymoma		ISO	RGD:1606264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310552	Atosa	atos homolog A	gene	DOID:4362	cervical cancer		ISO	RGD:1606264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310552	Atosa	atos homolog A	gene	DOID:5041	esophageal cancer		ISO	RGD:1606264	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310552	Atosa	atos homolog A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310552	Atosa	atos homolog A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310552	Atosa	atos homolog A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310552	Atosa	atos homolog A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310552	Atosa	atos homolog A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310552	Atosa	atos homolog A	gene	DOID:9256	colorectal cancer		ISO	RGD:1606264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310553	Tslig2	tRNA splicing ligase complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310553	Tslig2	tRNA splicing ligase complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1604297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310553	Tslig2	tRNA splicing ligase complex subunit 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310553	Tslig2	tRNA splicing ligase complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310553	Tslig2	tRNA splicing ligase complex subunit 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310553	Tslig2	tRNA splicing ligase complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310554	Sema4d	semaphorin 4D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310554	Sema4d	semaphorin 4D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310554	Sema4d	semaphorin 4D	gene	DOID:10534	stomach cancer		ISO	RGD:1321523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310554	Sema4d	semaphorin 4D	gene	DOID:1115	sarcoma		ISO	RGD:1321523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310554	Sema4d	semaphorin 4D	gene	DOID:1324	lung cancer		ISO	RGD:1321523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310554	Sema4d	semaphorin 4D	gene	DOID:1909	melanoma		ISO	RGD:1321523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310554	Sema4d	semaphorin 4D	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310554	Sema4d	semaphorin 4D	gene	DOID:3275	thymoma		ISO	RGD:1321523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310554	Sema4d	semaphorin 4D	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310554	Sema4d	semaphorin 4D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310554	Sema4d	semaphorin 4D	gene	DOID:5041	esophageal cancer		ISO	RGD:1321523	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310554	Sema4d	semaphorin 4D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310554	Sema4d	semaphorin 4D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321523	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310554	Sema4d	semaphorin 4D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310554	Sema4d	semaphorin 4D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321523	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310554	Sema4d	semaphorin 4D	gene	DOID:963	episodic ataxia		ISO	RGD:1321523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Episodic ataxia	PMID:25741868
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:0110356	retinitis pigmentosa 18		ISO	RGD:1321525	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:0110356	retinitis pigmentosa 18		ISO	RGD:1321525	D	RGD:7240710	20150325	OMIM			
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:0110356	retinitis pigmentosa 18		ISO	RGD:1321525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PRPF3-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 18 | ClinVar Annotator: match by term: Retinitis pigmentosa 18	PMID:11773002|PMID:15085354|PMID:16799052|PMID:17517693|PMID:17932117|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25111227|PMID:25741868|PMID:27898983|PMID:28492532|PMID:28559085|PMID:28848678|PMID:29847639|PMID:31054281|PMID:31456290|PMID:31816670|PMID:32036094|PMID:32037395|PMID:32531858|PMID:33576794|PMID:33749171|PMID:35138024|PMID:36460718
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:0110356	retinitis pigmentosa 18		ISS	RGD:1321526	D	RGD:13592920	20230718	MouseDO		OMIM:601414	
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:1321525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 40	PMID:11773002|PMID:15085354|PMID:17932117|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25111227|PMID:25741868|PMID:27898983|PMID:28492532|PMID:28559085|PMID:28848678|PMID:29847639|PMID:31054281|PMID:31456290|PMID:31816670|PMID:32037395|PMID:32531858|PMID:33749171|PMID:35138024|PMID:36460718
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321525	D	RGD:1599535|PMID:11773002	20070207	RGD			
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11773002|PMID:15085354|PMID:17932117|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25111227|PMID:25741868|PMID:27898983|PMID:28492532|PMID:28559085|PMID:28848678|PMID:29847639|PMID:31054281|PMID:31456290|PMID:31816670|PMID:32037395|PMID:32531858|PMID:33749171|PMID:35138024|PMID:36460718
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:3070	high grade glioma		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:3275	thymoma		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:630	genetic disease		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11773002|PMID:15085354|PMID:16799052|PMID:17517693|PMID:17932117|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25111227|PMID:25741868|PMID:27886254|PMID:27898983|PMID:28492532|PMID:28559085|PMID:28848678|PMID:29847639|PMID:31054281|PMID:31456290|PMID:31816670|PMID:32036094|PMID:32037395|PMID:32531858|PMID:33576794|PMID:33749171|PMID:35138024|PMID:36460718
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310555	Prpf3	pre-mRNA processing factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310556	Ing3	inhibitor of growth family, member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321527	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310556	Ing3	inhibitor of growth family, member 3	gene	DOID:3275	thymoma		ISO	RGD:1321527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310556	Ing3	inhibitor of growth family, member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1321527	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310556	Ing3	inhibitor of growth family, member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310556	Ing3	inhibitor of growth family, member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310556	Ing3	inhibitor of growth family, member 3	gene	DOID:684	hepatocellular carcinoma	treatment	IDA		D	RGD:9587823|PMID:25156538	20141021	RGD			
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:1909	melanoma		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:3275	thymoma		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1321531	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310558	Nfrkb	nuclear factor related to kappa B binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310560	Elovl7	ELOVL fatty acid elongase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310560	Elovl7	ELOVL fatty acid elongase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1321534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310560	Elovl7	ELOVL fatty acid elongase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310560	Elovl7	ELOVL fatty acid elongase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310560	Elovl7	ELOVL fatty acid elongase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310560	Elovl7	ELOVL fatty acid elongase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310561	Pdcd5	programmed cell death 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310561	Pdcd5	programmed cell death 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310561	Pdcd5	programmed cell death 5	gene	DOID:1115	sarcoma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310561	Pdcd5	programmed cell death 5	gene	DOID:1324	lung cancer		ISO	RGD:1321536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1310561	Pdcd5	programmed cell death 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310561	Pdcd5	programmed cell death 5	gene	DOID:3070	high grade glioma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310561	Pdcd5	programmed cell death 5	gene	DOID:4362	cervical cancer		ISO	RGD:1321536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310561	Pdcd5	programmed cell death 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1321536	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310561	Pdcd5	programmed cell death 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310561	Pdcd5	programmed cell death 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310561	Pdcd5	programmed cell death 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310561	Pdcd5	programmed cell death 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310562	Neil3	nei-like DNA glycosylase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310562	Neil3	nei-like DNA glycosylase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310562	Neil3	nei-like DNA glycosylase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1352319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310562	Neil3	nei-like DNA glycosylase 3	gene	DOID:1115	sarcoma		ISO	RGD:1352319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310562	Neil3	nei-like DNA glycosylase 3	gene	DOID:1324	lung cancer		ISO	RGD:1352319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310562	Neil3	nei-like DNA glycosylase 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310562	Neil3	nei-like DNA glycosylase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352319	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310562	Neil3	nei-like DNA glycosylase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310562	Neil3	nei-like DNA glycosylase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352319	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310562	Neil3	nei-like DNA glycosylase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310562	Neil3	nei-like DNA glycosylase 3	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1352319	D	RGD:153344586|PMID:35693827	20220829	RGD		mRNA:increased expression:liver (human)	
1310562	Neil3	nei-like DNA glycosylase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310563	Ccl9	C-C motif chemokine ligand 9	gene	DOID:0060496	respiratory allergy		ISO	RGD:1321540	D	RGD:11554173	20251111	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085522
1310563	Ccl9	C-C motif chemokine ligand 9	gene	DOID:1205	allergic disease		ISO	RGD:1321540	D	RGD:11554173	20251111	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
1310563	Ccl9	C-C motif chemokine ligand 9	gene	DOID:2316	brain ischemia		ISO	RGD:1321540	D	RGD:11554173	20251111	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914
1310563	Ccl9	C-C motif chemokine ligand 9	gene	DOID:552	pneumonia		ISO	RGD:1321540	D	RGD:11554173	20251111	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
1310563	Ccl9	C-C motif chemokine ligand 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321540	D	RGD:9068941	20251108	RGD		mRNA:increased expression:liver (mouse)	PMID:26569409|REF_RGD_ID:11344640
1310564	Plxnb1	plexin B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310564	Plxnb1	plexin B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310564	Plxnb1	plexin B1	gene	DOID:10534	stomach cancer		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310564	Plxnb1	plexin B1	gene	DOID:1115	sarcoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310564	Plxnb1	plexin B1	gene	DOID:1324	lung cancer		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310564	Plxnb1	plexin B1	gene	DOID:1909	melanoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310564	Plxnb1	plexin B1	gene	DOID:2394	ovarian cancer		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310564	Plxnb1	plexin B1	gene	DOID:4362	cervical cancer		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310564	Plxnb1	plexin B1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310564	Plxnb1	plexin B1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310564	Plxnb1	plexin B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310564	Plxnb1	plexin B1	gene	DOID:6039	uveal melanoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310564	Plxnb1	plexin B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1310564	Plxnb1	plexin B1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321541	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1310564	Plxnb1	plexin B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310564	Plxnb1	plexin B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1310564	Plxnb1	plexin B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310565	Slc24a5	solute carrier family 24 member 5	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1321543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ocular albinism	PMID:16199547|PMID:23985994|PMID:25741868|PMID:26686029|PMID:28492532
1310565	Slc24a5	solute carrier family 24 member 5	gene	DOID:0050633	ocular albinism 1		ISS	RGD:1553523	D	RGD:13592920	20180518	MouseDO		OMIM:300500	
1310565	Slc24a5	solute carrier family 24 member 5	gene	DOID:0080614	oculocutaneous albinism type VI		ISO	RGD:1321543	D	RGD:7240710	20141022	OMIM			
1310565	Slc24a5	solute carrier family 24 member 5	gene	DOID:0080614	oculocutaneous albinism type VI		ISO	RGD:1321543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SLC24A5-related condition	PMID:28492532
1310565	Slc24a5	solute carrier family 24 member 5	gene	DOID:630	genetic disease		ISO	RGD:1321543	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310565	Slc24a5	solute carrier family 24 member 5	gene	DOID:9001386	Albinism		ISO	RGD:1321543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:16199547|PMID:23985994|PMID:25741868|PMID:26686029|PMID:28492532
1310565	Slc24a5	solute carrier family 24 member 5	gene	DOID:9001735	Skin/Hair/Eye Pigmentation, Variation In, 4		ISO	RGD:1321543	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1310565	Slc24a5	solute carrier family 24 member 5	gene	DOID:9001735	Skin/Hair/Eye Pigmentation, Variation In, 4		ISO	RGD:1321543	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN	
1310566	Tmem17	transmembrane protein 17	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1321545	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
1310566	Tmem17	transmembrane protein 17	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1321545	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	
1310566	Tmem17	transmembrane protein 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310566	Tmem17	transmembrane protein 17	gene	DOID:0060316	orofaciodigital syndrome I		ISO	RGD:1321545	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Orofaciodigital syndrome I	PMID:25741868|PMID:26982032
1310566	Tmem17	transmembrane protein 17	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica	
1310566	Tmem17	transmembrane protein 17	gene	DOID:10907	microcephaly		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1310566	Tmem17	transmembrane protein 17	gene	DOID:1148	polydactyly		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	
1310566	Tmem17	transmembrane protein 17	gene	DOID:1909	melanoma		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310566	Tmem17	transmembrane protein 17	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310566	Tmem17	transmembrane protein 17	gene	DOID:9000983	Encephalocele		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Occipital encephalocele	
1310566	Tmem17	transmembrane protein 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310566	Tmem17	transmembrane protein 17	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1321545	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1310567	Dgcr2	DiGeorge syndrome critical region gene 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310567	Dgcr2	DiGeorge syndrome critical region gene 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310567	Dgcr2	DiGeorge syndrome critical region gene 2	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1321547	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1310567	Dgcr2	DiGeorge syndrome critical region gene 2	gene	DOID:12849	autistic disorder		ISO	RGD:1321547	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
1310567	Dgcr2	DiGeorge syndrome critical region gene 2	gene	DOID:1324	lung cancer		ISO	RGD:1321547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310567	Dgcr2	DiGeorge syndrome critical region gene 2	gene	DOID:1909	melanoma		ISO	RGD:1321547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310567	Dgcr2	DiGeorge syndrome critical region gene 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310567	Dgcr2	DiGeorge syndrome critical region gene 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310567	Dgcr2	DiGeorge syndrome critical region gene 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321547	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310567	Dgcr2	DiGeorge syndrome critical region gene 2	gene	DOID:5419	schizophrenia		ISO	RGD:1321547	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1310567	Dgcr2	DiGeorge syndrome critical region gene 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310567	Dgcr2	DiGeorge syndrome critical region gene 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310567	Dgcr2	DiGeorge syndrome critical region gene 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310567	Dgcr2	DiGeorge syndrome critical region gene 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310568	Parp2	poly (ADP-ribose) polymerase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310568	Parp2	poly (ADP-ribose) polymerase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310568	Parp2	poly (ADP-ribose) polymerase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310568	Parp2	poly (ADP-ribose) polymerase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310568	Parp2	poly (ADP-ribose) polymerase 2	gene	DOID:1324	lung cancer		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310568	Parp2	poly (ADP-ribose) polymerase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310568	Parp2	poly (ADP-ribose) polymerase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310568	Parp2	poly (ADP-ribose) polymerase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310568	Parp2	poly (ADP-ribose) polymerase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310568	Parp2	poly (ADP-ribose) polymerase 2	gene	DOID:811	lipodystrophy		ISO	RGD:1602134	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21417348
1310568	Parp2	poly (ADP-ribose) polymerase 2	gene	DOID:9003936	Cardiomegaly	treatment	IEP		D	RGD:13514043|PMID:25281201	20180321	RGD			
1310568	Parp2	poly (ADP-ribose) polymerase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310568	Parp2	poly (ADP-ribose) polymerase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310568	Parp2	poly (ADP-ribose) polymerase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310569	Myot	myotilin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1321551	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15111675
1310569	Myot	myotilin	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1321551	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
1310569	Myot	myotilin	gene	DOID:0080094	myofibrillar myopathy 3		ISO	RGD:1321551	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15111675
1310569	Myot	myotilin	gene	DOID:0080094	myofibrillar myopathy 3		ISO	RGD:1321551	D	RGD:7240710	20150701	OMIM			
1310569	Myot	myotilin	gene	DOID:0080094	myofibrillar myopathy 3		ISO	RGD:1321551	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy 3	PMID:28492532
1310569	Myot	myotilin	gene	DOID:10283	prostate cancer		ISO	RGD:1321551	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310569	Myot	myotilin	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1321551	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:21336781
1310569	Myot	myotilin	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1321551	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant | ClinVar Annotator: match by term: Muscular Dystrophies, Limb-Girdle	PMID:25741868|PMID:26467025|PMID:28492532
1310569	Myot	myotilin	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1321551	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15111675
1310569	Myot	myotilin	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1321551	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15111675
1310569	Myot	myotilin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321551	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1310569	Myot	myotilin	gene	DOID:9884	muscular dystrophy		ISO	RGD:1321551	D	RGD:1599673|PMID:10958653	20070212	RGD		Limb-Girdle Muscular Dystrophy LGMD1A, OMIM:159000	
1310570	Klhl18	kelch-like family member 18	gene	DOID:1909	melanoma		ISO	RGD:1351976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310570	Klhl18	kelch-like family member 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310570	Klhl18	kelch-like family member 18	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310570	Klhl18	kelch-like family member 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310570	Klhl18	kelch-like family member 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310571	Tpgs2	tubulin polyglutamylase complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310571	Tpgs2	tubulin polyglutamylase complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310571	Tpgs2	tubulin polyglutamylase complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1321554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310571	Tpgs2	tubulin polyglutamylase complex subunit 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310571	Tpgs2	tubulin polyglutamylase complex subunit 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1321554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310571	Tpgs2	tubulin polyglutamylase complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310571	Tpgs2	tubulin polyglutamylase complex subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310571	Tpgs2	tubulin polyglutamylase complex subunit 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1321554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310571	Tpgs2	tubulin polyglutamylase complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310571	Tpgs2	tubulin polyglutamylase complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310572	Mgat4d	MGAT4 family, member D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310572	Mgat4d	MGAT4 family, member D	gene	DOID:1115	sarcoma		ISO	RGD:1605861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310573	Rnf222	ring finger protein 222	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2299989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:0050625	biliary tract benign neoplasm		ISO	RGD:1321558	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26258846
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:0050891	adrenal cortical adenoma		ISO	RGD:1321558	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29669941
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1321558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:1321558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:1909	melanoma		ISO	RGD:1321558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:2316	brain ischemia		IEP		D	RGD:7327190|PMID:12150772	20130916	RGD		protein:decreased expression:hippocampus, cerebral cortex, cytosol, nucleus	
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:3275	thymoma		ISO	RGD:1321558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321558	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26258846
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1321558	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:9001929	Hypoglossal Nerve Injuries		IEP		D	RGD:7327191|PMID:7769990	20130916	RGD			
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321558	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16949795
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:9003250	Cardioacrofacial Dysplasia 2		ISO	RGD:1321558	D	RGD:7240710	20210113	OMIM			
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:9003250	Cardioacrofacial Dysplasia 2		ISO	RGD:1321558	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: CARDIOACROFACIAL DYSPLASIA 2 | ClinVar Annotator: match by term: Cardioacrofacial dysplasia 2	PMID:25741868|PMID:33058759
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:9005158	Cushing Syndrome		ISO	RGD:1321558	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29669941
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1310574	Prkacb	protein kinase cAMP-activated catalytic subunit beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310576	Mex3d	mex-3 RNA binding family member D	gene	DOID:1324	lung cancer		ISO	RGD:1321562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310576	Mex3d	mex-3 RNA binding family member D	gene	DOID:4362	cervical cancer		ISO	RGD:1321562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310576	Mex3d	mex-3 RNA binding family member D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310576	Mex3d	mex-3 RNA binding family member D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310578	Cdr2	cerebellar degeneration-related protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321565	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310578	Cdr2	cerebellar degeneration-related protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1321565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310578	Cdr2	cerebellar degeneration-related protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310579	Gbp4	guanylate binding protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310579	Gbp4	guanylate binding protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310579	Gbp4	guanylate binding protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310579	Gbp4	guanylate binding protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310579	Gbp4	guanylate binding protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1321567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310579	Gbp4	guanylate binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1321567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310579	Gbp4	guanylate binding protein 4	gene	DOID:1909	melanoma		ISO	RGD:1321567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310579	Gbp4	guanylate binding protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1321567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310579	Gbp4	guanylate binding protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321567	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310579	Gbp4	guanylate binding protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310579	Gbp4	guanylate binding protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1321567	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310579	Gbp4	guanylate binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310579	Gbp4	guanylate binding protein 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1321567	D	RGD:11554173	20200505	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310579	Gbp4	guanylate binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310579	Gbp4	guanylate binding protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310580	B3gnt7	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310582	Tekt3	tektin 3	gene	DOID:0070580	spermatogenic failure 81		ISO	RGD:1321573	D	RGD:7240710	20230505	OMIM			
1310582	Tekt3	tektin 3	gene	DOID:0070580	spermatogenic failure 81		ISO	RGD:1321573	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 81 | ClinVar Annotator: match by term: Spermatogenic failure 81	PMID:25741868
1310582	Tekt3	tektin 3	gene	DOID:1324	lung cancer		ISO	RGD:1321573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310582	Tekt3	tektin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310582	Tekt3	tektin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310583	Nudt14	nudix hydrolase 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310583	Nudt14	nudix hydrolase 14	gene	DOID:1324	lung cancer		ISO	RGD:1321575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310583	Nudt14	nudix hydrolase 14	gene	DOID:3070	high grade glioma		ISO	RGD:1321575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310583	Nudt14	nudix hydrolase 14	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310583	Nudt14	nudix hydrolase 14	gene	DOID:4362	cervical cancer		ISO	RGD:1321575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310583	Nudt14	nudix hydrolase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310583	Nudt14	nudix hydrolase 14	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310584	Zfp46	zinc finger protein 46	gene	DOID:1909	melanoma		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310584	Zfp46	zinc finger protein 46	gene	DOID:4362	cervical cancer		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310584	Zfp46	zinc finger protein 46	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310584	Zfp46	zinc finger protein 46	gene	DOID:5041	esophageal cancer		ISO	RGD:1321577	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310584	Zfp46	zinc finger protein 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310584	Zfp46	zinc finger protein 46	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310585	Elf2	E74 like ETS transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310585	Elf2	E74 like ETS transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310585	Elf2	E74 like ETS transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310585	Elf2	E74 like ETS transcription factor 2	gene	DOID:1909	melanoma		ISO	RGD:1321579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310585	Elf2	E74 like ETS transcription factor 2	gene	DOID:3275	thymoma		ISO	RGD:1321579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310585	Elf2	E74 like ETS transcription factor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310585	Elf2	E74 like ETS transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310585	Elf2	E74 like ETS transcription factor 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1321579	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1310586	Bola1	bolA family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310587	C13h1orf115	similar to human chromosome 1 open reading frame 115	gene	DOID:0080600	COVID-19		ISO	RGD:1605938	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310587	C13h1orf115	similar to human chromosome 1 open reading frame 115	gene	DOID:1324	lung cancer		ISO	RGD:1605938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310587	C13h1orf115	similar to human chromosome 1 open reading frame 115	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:0070648	cherubism		ISO	RGD:1321583	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:0070648	cherubism		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHERUBISM | ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw	PMID:11381256|PMID:12900899|PMID:14577811|PMID:15507112|PMID:16199547|PMID:16786512|PMID:17321449|PMID:17576681|PMID:18596838|PMID:19017279|PMID:19576004|PMID:20002873|PMID:21045962|PMID:21794028|PMID:22153076|PMID:22153077|PMID:22795151|PMID:23298620|PMID:24033266|PMID:24382142|PMID:24608212|PMID:24916406|PMID:25144740|PMID:25741868|PMID:26064398|PMID:27272835|PMID:28492532|PMID:28644570|PMID:28721660|PMID:30236129|PMID:34573280|PMID:9536098
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:10907	microcephaly		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral cryptorchidism	PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:12698	gynecomastia		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gynecomastia	PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:1856	cherubism 1		ISO	RGD:1321583	D	RGD:1599339|PMID:11381256	20070130	RGD			
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:1856	cherubism 1		ISO	RGD:1321583	D	RGD:7240710	20130221	OMIM			
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:1856	cherubism 1		ISO	RGD:1321583	D	RGD:8554872	20250821	ClinVar		ClinVar Annotator: match by term: SH3BP2-related disorder	PMID:11381256|PMID:12900899|PMID:17321449|PMID:17576681|PMID:22153076|PMID:23298620|PMID:25741868|PMID:27272835|PMID:28492532|PMID:9536098
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:1856	cherubism 1		ISS	RGD:1321584	D	RGD:13592920	20230718	MouseDO		OMIM:118400	
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prolonged QT interval	PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1321583	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:9002589	Bone Fractures		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:9406	hypopituitarism		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypopituitarism	PMID:28492532
1310588	Sh3bp2	SH3-domain binding protein 2	gene	DOID:9970	obesity		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1310589	Bop1	BOP1 ribosomal biogenesis factor	gene	DOID:1909	melanoma		ISO	RGD:1321585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310589	Bop1	BOP1 ribosomal biogenesis factor	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1321585	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1310589	Bop1	BOP1 ribosomal biogenesis factor	gene	DOID:9000918	Disease Progression		ISO	RGD:1321585	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1310589	Bop1	BOP1 ribosomal biogenesis factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:25741868|PMID:30303587
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0080261	autosomal recessive nonsyndromic deafness 106		ISO	RGD:1321587	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 106	PMID:25741868|PMID:28492532
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0080600	COVID-19		ISO	RGD:1321587	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0110463	autosomal recessive nonsyndromic deafness 102		ISO	RGD:1321587	D	RGD:7240710	20170308	OMIM			
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0110463	autosomal recessive nonsyndromic deafness 102		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 102 | ClinVar Annotator: match by term: EPS8-related condition	PMID:24033266|PMID:25741868|PMID:28492532
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:10534	stomach cancer		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:28492532
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:1115	sarcoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:11400	pyelonephritis		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyelonephritis	
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:3275	thymoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:4362	cervical cancer		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:5041	esophageal cancer		ISO	RGD:1321587	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:30303587
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:630	genetic disease		ISO	RGD:1321587	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9003507	Premature Birth		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:25741868|PMID:30303587
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1321587	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19799886
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:24033266|PMID:25741868|PMID:28492532
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9008681	Deafness		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:25741868|PMID:30303587
1310590	Eps8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9256	colorectal cancer		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310592	Ints8	integrator complex subunit 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310592	Ints8	integrator complex subunit 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310592	Ints8	integrator complex subunit 8	gene	DOID:10283	prostate cancer		ISO	RGD:1604344	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310592	Ints8	integrator complex subunit 8	gene	DOID:10283	prostate cancer		ISO	RGD:1604344	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310592	Ints8	integrator complex subunit 8	gene	DOID:10534	stomach cancer		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310592	Ints8	integrator complex subunit 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310592	Ints8	integrator complex subunit 8	gene	DOID:1115	sarcoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310592	Ints8	integrator complex subunit 8	gene	DOID:1324	lung cancer		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310592	Ints8	integrator complex subunit 8	gene	DOID:1909	melanoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310592	Ints8	integrator complex subunit 8	gene	DOID:2843	long QT syndrome		ISO	RGD:1604344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1310592	Ints8	integrator complex subunit 8	gene	DOID:3275	thymoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310592	Ints8	integrator complex subunit 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310592	Ints8	integrator complex subunit 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310592	Ints8	integrator complex subunit 8	gene	DOID:4362	cervical cancer		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310592	Ints8	integrator complex subunit 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310592	Ints8	integrator complex subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310592	Ints8	integrator complex subunit 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310592	Ints8	integrator complex subunit 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310592	Ints8	integrator complex subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310592	Ints8	integrator complex subunit 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310592	Ints8	integrator complex subunit 8	gene	DOID:9009083	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY		ISO	RGD:1604344	D	RGD:7240710	20191016	OMIM			
1310592	Ints8	integrator complex subunit 8	gene	DOID:9009083	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY		ISO	RGD:1604344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity	PMID:25741868|PMID:28492532
1310592	Ints8	integrator complex subunit 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:0060058	lymphoma		ISO	RGD:1321591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1321591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:1909	melanoma		ISO	RGD:1321591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:3275	thymoma		ISO	RGD:1321591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321591	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310593	Phtf2	putative homeodomain transcription factor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1321591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310594	Ogfod2	2-oxoglutarate and iron-dependent oxygenase domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1606222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310594	Ogfod2	2-oxoglutarate and iron-dependent oxygenase domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1606222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310594	Ogfod2	2-oxoglutarate and iron-dependent oxygenase domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606222	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310594	Ogfod2	2-oxoglutarate and iron-dependent oxygenase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310594	Ogfod2	2-oxoglutarate and iron-dependent oxygenase domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310594	Ogfod2	2-oxoglutarate and iron-dependent oxygenase domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310595	Pla2g4e	phospholipase A2, group IVE	gene	DOID:3275	thymoma		ISO	RGD:1606471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310595	Pla2g4e	phospholipase A2, group IVE	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310596	Gatad2a	GATA zinc finger domain containing 2A	gene	DOID:1909	melanoma		ISO	RGD:1603219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310596	Gatad2a	GATA zinc finger domain containing 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310596	Gatad2a	GATA zinc finger domain containing 2A	gene	DOID:3275	thymoma		ISO	RGD:1603219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310596	Gatad2a	GATA zinc finger domain containing 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1603219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310596	Gatad2a	GATA zinc finger domain containing 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603219	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310596	Gatad2a	GATA zinc finger domain containing 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310596	Gatad2a	GATA zinc finger domain containing 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310596	Gatad2a	GATA zinc finger domain containing 2A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1603219	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35362730
1310596	Gatad2a	GATA zinc finger domain containing 2A	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1603219	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35362730
1310596	Gatad2a	GATA zinc finger domain containing 2A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603219	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:31116477
1310596	Gatad2a	GATA zinc finger domain containing 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310597	Poc5	POC5 centriolar protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310597	Poc5	POC5 centriolar protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310597	Poc5	POC5 centriolar protein	gene	DOID:0060249	scoliosis		ISO	RGD:1605874	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25642776|PMID:25741868|PMID:28492532
1310597	Poc5	POC5 centriolar protein	gene	DOID:0060250	idiopathic scoliosis		ISO	RGD:1605874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1	
1310597	Poc5	POC5 centriolar protein	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1605874	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	
1310597	Poc5	POC5 centriolar protein	gene	DOID:1059	intellectual disability		ISO	RGD:1605874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25642776|PMID:25741868|PMID:28492532
1310597	Poc5	POC5 centriolar protein	gene	DOID:1115	sarcoma		ISO	RGD:1605874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310597	Poc5	POC5 centriolar protein	gene	DOID:12849	autistic disorder		ISO	RGD:1605874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25642776|PMID:25741868|PMID:28492532
1310597	Poc5	POC5 centriolar protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1605874	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25642776|PMID:25741868|PMID:28492532
1310597	Poc5	POC5 centriolar protein	gene	DOID:5723	optic atrophy		ISO	RGD:1605874	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1310597	Poc5	POC5 centriolar protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310597	Poc5	POC5 centriolar protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310597	Poc5	POC5 centriolar protein	gene	DOID:8501	fundus dystrophy		ISO	RGD:1605874	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25642776|PMID:25741868|PMID:28492532|PMID:34356048|PMID:34426522
1310597	Poc5	POC5 centriolar protein	gene	DOID:9002189	High Myopia		ISO	RGD:1605874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25642776|PMID:25741868|PMID:28492532
1310597	Poc5	POC5 centriolar protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310597	Poc5	POC5 centriolar protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310597	Poc5	POC5 centriolar protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310597	Poc5	POC5 centriolar protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310597	Poc5	POC5 centriolar protein	gene	DOID:988	mitral valve prolapse		ISO	RGD:1605874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:25642776|PMID:25741868|PMID:28492532
1310598	Ms4a3	membrane spanning 4-domains A3	gene	DOID:1324	lung cancer		ISO	RGD:1321597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310600	Rad54l	RAD54 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310600	Rad54l	RAD54 like	gene	DOID:0060058	lymphoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310600	Rad54l	RAD54 like	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1321600	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310600	Rad54l	RAD54 like	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1321600	D	RGD:7240710	20130717	OMIM			
1310600	Rad54l	RAD54 like	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1321600	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial | ClinVar Annotator: match by term: Non-Hodgkin lymphoma	PMID:25741868
1310600	Rad54l	RAD54 like	gene	DOID:0060252	sclerocornea		ISS	RGD:1321601	D	RGD:13592920	20200123	MouseDO		OMIM:181700	
1310600	Rad54l	RAD54 like	gene	DOID:0080875	IDH-mutant anaplastic astrocytoma		ISO	RGD:1321600	D	RGD:8554872	20240123	ClinVar		ClinVar Annotator: match by term: Astrocytoma IDH-mutant	PMID:25741868
1310600	Rad54l	RAD54 like	gene	DOID:1115	sarcoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310600	Rad54l	RAD54 like	gene	DOID:1324	lung cancer		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1310600	Rad54l	RAD54 like	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1321600	D	RGD:1599748|PMID:10362365	20070213	RGD			
1310600	Rad54l	RAD54 like	gene	DOID:1612	breast cancer		ISO	RGD:1321600	D	RGD:7240710	20180711	OMIM			
1310600	Rad54l	RAD54 like	gene	DOID:1612	breast cancer		ISO	RGD:1321600	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: RAD54L-related condition	PMID:25741868
1310600	Rad54l	RAD54 like	gene	DOID:1793	pancreatic cancer		ISO	RGD:1321600	D	RGD:2317365|PMID:16540687	20100331	RGD		DNA:SNP:exon:rs1048771 (human)	
1310600	Rad54l	RAD54 like	gene	DOID:1909	melanoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310600	Rad54l	RAD54 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321600	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADENOCARCINOMA, COLONIC, SOMATIC	
1310600	Rad54l	RAD54 like	gene	DOID:2394	ovarian cancer		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
1310600	Rad54l	RAD54 like	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1321600	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, INVASIVE DUCTAL	
1310600	Rad54l	RAD54 like	gene	DOID:3275	thymoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310600	Rad54l	RAD54 like	gene	DOID:4362	cervical cancer		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310600	Rad54l	RAD54 like	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:25741868
1310600	Rad54l	RAD54 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1321600	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310600	Rad54l	RAD54 like	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1321600	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1310600	Rad54l	RAD54 like	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321600	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
1310600	Rad54l	RAD54 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310600	Rad54l	RAD54 like	gene	DOID:630	genetic disease		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1310600	Rad54l	RAD54 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321600	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310600	Rad54l	RAD54 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310600	Rad54l	RAD54 like	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1321600	D	RGD:11554173	20180717	CTD		CTD Direct Evidence: marker/mechanism	
1310600	Rad54l	RAD54 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321600	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1310600	Rad54l	RAD54 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310603	Etv2	ETS variant transcription factor 2	gene	DOID:0050852	limb ischemia	ameliorates	ISO	RGD:1351650	D	RGD:156451664|PMID:28424975	20230313	RGD			
1310603	Etv2	ETS variant transcription factor 2	gene	DOID:0050852	limb ischemia	ameliorates	ISO	RGD:1351650	D	RGD:192379484|PMID:28466428	20230322	RGD			
1310603	Etv2	ETS variant transcription factor 2	gene	DOID:0050852	limb ischemia	ameliorates	ISO	RGD:1616004	D	RGD:192186227|PMID:32075417	20230322	RGD			
1310603	Etv2	ETS variant transcription factor 2	gene	DOID:0050852	limb ischemia	exacerbates	ISO	RGD:1616004	D	RGD:11076207|PMID:26586661	20230310	RGD			
1310603	Etv2	ETS variant transcription factor 2	gene	DOID:0050852	limb ischemia	exacerbates	ISO	RGD:1616004	D	RGD:156451664|PMID:28424975	20230313	RGD			
1310603	Etv2	ETS variant transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351650	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310603	Etv2	ETS variant transcription factor 2	gene	DOID:1148	polydactyly		ISO	RGD:1351650	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polydactyly	
1310603	Etv2	ETS variant transcription factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1351650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310603	Etv2	ETS variant transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310603	Etv2	ETS variant transcription factor 2	gene	DOID:9009023	Aortic Remodeling	ameliorates	ISO	RGD:1616004	D	RGD:156451665|PMID:29191922	20230313	RGD			
1310603	Etv2	ETS variant transcription factor 2	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1351650	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1346487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1346487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1346487	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1346487	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23593118
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:9007256	Prostate Cancer, Hereditary, 12		ISO	RGD:1346487	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:9007256	Prostate Cancer, Hereditary, 12		ISO	RGD:1346487	D	RGD:7240710	20130425	OMIM			
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:9007256	Prostate Cancer, Hereditary, 12		ISO	RGD:1346487	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EHBP1-related condition | ClinVar Annotator: match by term: PROSTATE CANCER, HEREDITARY, 12	PMID:25741868
1310604	Ehbp1	EH domain binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310605	Slc27a3	solute carrier family 27 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310605	Slc27a3	solute carrier family 27 member 3	gene	DOID:0060058	lymphoma		ISO	RGD:1321607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310605	Slc27a3	solute carrier family 27 member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310605	Slc27a3	solute carrier family 27 member 3	gene	DOID:1115	sarcoma		ISO	RGD:1321607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310605	Slc27a3	solute carrier family 27 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1321607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310605	Slc27a3	solute carrier family 27 member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1321607	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310605	Slc27a3	solute carrier family 27 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310605	Slc27a3	solute carrier family 27 member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310605	Slc27a3	solute carrier family 27 member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310605	Slc27a3	solute carrier family 27 member 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310605	Slc27a3	solute carrier family 27 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310605	Slc27a3	solute carrier family 27 member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310606	Ergic2	ERGIC and golgi 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310606	Ergic2	ERGIC and golgi 2	gene	DOID:0070307	craniolenticulosutural dysplasia		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniolenticulosutural dysplasia	PMID:25741868|PMID:30192042|PMID:38103548
1310606	Ergic2	ERGIC and golgi 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310606	Ergic2	ERGIC and golgi 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310606	Ergic2	ERGIC and golgi 2	gene	DOID:1115	sarcoma		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310606	Ergic2	ERGIC and golgi 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310606	Ergic2	ERGIC and golgi 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310606	Ergic2	ERGIC and golgi 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310606	Ergic2	ERGIC and golgi 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310606	Ergic2	ERGIC and golgi 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310606	Ergic2	ERGIC and golgi 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310606	Ergic2	ERGIC and golgi 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310607	Rpl26	ribosomal protein L26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1310607	Rpl26	ribosomal protein L26	gene	DOID:0111892	Diamond-Blackfan anemia 11		ISO	RGD:1321610	D	RGD:7240710	20140911	OMIM			
1310607	Rpl26	ribosomal protein L26	gene	DOID:0111892	Diamond-Blackfan anemia 11		ISO	RGD:1321610	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 11 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 11	PMID:25741868|PMID:28492532
1310607	Rpl26	ribosomal protein L26	gene	DOID:1115	sarcoma		ISO	RGD:1321610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1310607	Rpl26	ribosomal protein L26	gene	DOID:1324	lung cancer		ISO	RGD:1321610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1310607	Rpl26	ribosomal protein L26	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1321610	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1310607	Rpl26	ribosomal protein L26	gene	DOID:4362	cervical cancer		ISO	RGD:1321610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310607	Rpl26	ribosomal protein L26	gene	DOID:5041	esophageal cancer		ISO	RGD:1321610	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1310607	Rpl26	ribosomal protein L26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310608	Fuz	fuzzy planar cell polarity protein	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1602203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	
1310608	Fuz	fuzzy planar cell polarity protein	gene	DOID:0060340	ciliopathy		ISS	RGD:1332516	D	RGD:13592920	20251218	MouseDO			
1310608	Fuz	fuzzy planar cell polarity protein	gene	DOID:0080074	neural tube defect		ISO	RGD:1602203	D	RGD:11554173	20250204	CTD		CTD Direct Evidence: marker/mechanism	
1310608	Fuz	fuzzy planar cell polarity protein	gene	DOID:0080074	neural tube defect		ISO	RGD:1602203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FUZ-related condition | ClinVar Annotator: match by term: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to	PMID:25741868|PMID:28492532
1310608	Fuz	fuzzy planar cell polarity protein	gene	DOID:0080074	neural tube defect	susceptibility	ISO	RGD:1602203	D	RGD:7240710	20190502	OMIM			
1310608	Fuz	fuzzy planar cell polarity protein	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1602203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: short-rib polydactyly syndrome type II	
1310608	Fuz	fuzzy planar cell polarity protein	gene	DOID:1115	sarcoma		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310608	Fuz	fuzzy planar cell polarity protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310608	Fuz	fuzzy planar cell polarity protein	gene	DOID:4362	cervical cancer		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310608	Fuz	fuzzy planar cell polarity protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602203	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310608	Fuz	fuzzy planar cell polarity protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310608	Fuz	fuzzy planar cell polarity protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310608	Fuz	fuzzy planar cell polarity protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310608	Fuz	fuzzy planar cell polarity protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310609	Sgf29	SAGA complex associated factor 29	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310609	Sgf29	SAGA complex associated factor 29	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310609	Sgf29	SAGA complex associated factor 29	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1604249	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1310609	Sgf29	SAGA complex associated factor 29	gene	DOID:10534	stomach cancer		ISO	RGD:1604249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310609	Sgf29	SAGA complex associated factor 29	gene	DOID:3275	thymoma		ISO	RGD:1604249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310609	Sgf29	SAGA complex associated factor 29	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310609	Sgf29	SAGA complex associated factor 29	gene	DOID:4362	cervical cancer		ISO	RGD:1604249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310609	Sgf29	SAGA complex associated factor 29	gene	DOID:5041	esophageal cancer		ISO	RGD:1604249	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310609	Sgf29	SAGA complex associated factor 29	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310609	Sgf29	SAGA complex associated factor 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310609	Sgf29	SAGA complex associated factor 29	gene	DOID:8947	diabetic retinopathy	severity	ISO	RGD:1604249	D	RGD:9587455|PMID:21441570	20141015	RGD		associated with Diabetes Mellitus, Type 1; DNA:SNP:intron: rs10521145(human)	
1310609	Sgf29	SAGA complex associated factor 29	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310609	Sgf29	SAGA complex associated factor 29	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1604249	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:0060955	dystonia 35, childhood-onset		ISO	RGD:1345880	D	RGD:7240710	20220629	OMIM			
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:0060955	dystonia 35, childhood-onset		ISO	RGD:1345880	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Dystonia 35, childhood-onset	PMID:25553844|PMID:25741868|PMID:34542157|PMID:36416405
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:10534	stomach cancer		ISO	RGD:1345880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:1909	melanoma		ISO	RGD:1345880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:4362	cervical cancer		ISO	RGD:1345880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:9003692	NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES		ISO	RGD:1345880	D	RGD:7240710	20221214	OMIM			
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:9003692	NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES		ISO	RGD:1345880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with dystonia and seizures	PMID:25553844|PMID:25741868|PMID:34542157|PMID:36416405|PMID:36847845|PMID:38789118
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310610	Shq1	SHQ1, H/ACA ribonucleoprotein assembly factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310611	Anp32e	acidic nuclear phosphoprotein 32 family member E	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310611	Anp32e	acidic nuclear phosphoprotein 32 family member E	gene	DOID:10534	stomach cancer		ISO	RGD:1321615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310611	Anp32e	acidic nuclear phosphoprotein 32 family member E	gene	DOID:1115	sarcoma		ISO	RGD:1321615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310611	Anp32e	acidic nuclear phosphoprotein 32 family member E	gene	DOID:1324	lung cancer		ISO	RGD:1321615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310611	Anp32e	acidic nuclear phosphoprotein 32 family member E	gene	DOID:1909	melanoma		ISO	RGD:1321615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310611	Anp32e	acidic nuclear phosphoprotein 32 family member E	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310611	Anp32e	acidic nuclear phosphoprotein 32 family member E	gene	DOID:3275	thymoma		ISO	RGD:1321615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310611	Anp32e	acidic nuclear phosphoprotein 32 family member E	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310611	Anp32e	acidic nuclear phosphoprotein 32 family member E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310611	Anp32e	acidic nuclear phosphoprotein 32 family member E	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310611	Anp32e	acidic nuclear phosphoprotein 32 family member E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310611	Anp32e	acidic nuclear phosphoprotein 32 family member E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310611	Anp32e	acidic nuclear phosphoprotein 32 family member E	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310612	Rabepk	Rab9 effector protein with kelch motifs	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310612	Rabepk	Rab9 effector protein with kelch motifs	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310612	Rabepk	Rab9 effector protein with kelch motifs	gene	DOID:1324	lung cancer		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310612	Rabepk	Rab9 effector protein with kelch motifs	gene	DOID:1909	melanoma		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310612	Rabepk	Rab9 effector protein with kelch motifs	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310612	Rabepk	Rab9 effector protein with kelch motifs	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310612	Rabepk	Rab9 effector protein with kelch motifs	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310612	Rabepk	Rab9 effector protein with kelch motifs	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310612	Rabepk	Rab9 effector protein with kelch motifs	gene	DOID:9002189	High Myopia		ISO	RGD:1604052	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1310612	Rabepk	Rab9 effector protein with kelch motifs	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310612	Rabepk	Rab9 effector protein with kelch motifs	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310612	Rabepk	Rab9 effector protein with kelch motifs	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310613	Itgav	integrin subunit alpha V	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310613	Itgav	integrin subunit alpha V	gene	DOID:0050852	limb ischemia		ISO	RGD:1617623	D	RGD:1582449|PMID:15750161	20061108	RGD			
1310613	Itgav	integrin subunit alpha V	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321618	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310613	Itgav	integrin subunit alpha V	gene	DOID:0051061	stroke		ISO	RGD:1321618	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9445356
1310613	Itgav	integrin subunit alpha V	gene	DOID:0070720	immune dysregulation, neurodevelopmental defects, and colitis		ISO	RGD:1321618	D	RGD:7240710	20260603	OMIM			
1310613	Itgav	integrin subunit alpha V	gene	DOID:0070720	immune dysregulation, neurodevelopmental defects, and colitis		ISO	RGD:1321618	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNE DYSREGULATION, NEURODEVELOPMENTAL DEFECTS, AND COLITIS	PMID:25741868
1310613	Itgav	integrin subunit alpha V	gene	DOID:10534	stomach cancer		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310613	Itgav	integrin subunit alpha V	gene	DOID:10763	hypertension		IEP		D	RGD:1627642|PMID:16380536	20070821	RGD		protein:increased expression:artery	
1310613	Itgav	integrin subunit alpha V	gene	DOID:10908	hydrocephalus		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
1310613	Itgav	integrin subunit alpha V	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310613	Itgav	integrin subunit alpha V	gene	DOID:1115	sarcoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310613	Itgav	integrin subunit alpha V	gene	DOID:11382	corneal neovascularization		IDA		D	RGD:1582461|PMID:10664059	20061109	RGD			
1310613	Itgav	integrin subunit alpha V	gene	DOID:1324	lung cancer		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310613	Itgav	integrin subunit alpha V	gene	DOID:1909	melanoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310613	Itgav	integrin subunit alpha V	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310613	Itgav	integrin subunit alpha V	gene	DOID:3070	high grade glioma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310613	Itgav	integrin subunit alpha V	gene	DOID:326	ischemia		IDA		D	RGD:1582457|PMID:15956135	20061108	RGD			
1310613	Itgav	integrin subunit alpha V	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310613	Itgav	integrin subunit alpha V	gene	DOID:4195	hyperglycemia		ISO	RGD:1321618	D	RGD:1627644|PMID:11848444	20070821	RGD		mRNA:increased expression:blood vessel endothelial cell	
1310613	Itgav	integrin subunit alpha V	gene	DOID:4248	coronary stenosis		IDA		D	RGD:1582454|PMID:11922905	20061108	RGD			
1310613	Itgav	integrin subunit alpha V	gene	DOID:4362	cervical cancer		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310613	Itgav	integrin subunit alpha V	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310613	Itgav	integrin subunit alpha V	gene	DOID:5041	esophageal cancer		ISO	RGD:1321618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310613	Itgav	integrin subunit alpha V	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310613	Itgav	integrin subunit alpha V	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310613	Itgav	integrin subunit alpha V	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310613	Itgav	integrin subunit alpha V	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1321618	D	RGD:1582446|PMID:16809548	20061108	RGD			
1310613	Itgav	integrin subunit alpha V	gene	DOID:9000927	Alveolar Bone Loss	treatment	IEP		D	RGD:329956421|PMID:33364953	20230720	RGD		associated with periodontal disease	
1310613	Itgav	integrin subunit alpha V	gene	DOID:9001044	Choroidal Neovascularization		IMP		D	RGD:1582458|PMID:15287373	20061109	RGD			
1310613	Itgav	integrin subunit alpha V	gene	DOID:9002170	Experimental Neoplasms	treatment	ISO	RGD:1321618	D	RGD:152998949|PMID:20841470	20220708	RGD		human cells in rat model	
1310613	Itgav	integrin subunit alpha V	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1321618	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9445356
1310613	Itgav	integrin subunit alpha V	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1321618	D	RGD:1582447|PMID:16102435	20061108	RGD			
1310613	Itgav	integrin subunit alpha V	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310613	Itgav	integrin subunit alpha V	gene	DOID:9006182	Carotid Artery Injuries		IEP		D	RGD:329845558|PMID:9622270	20230526	RGD		mRNA:increased expression:carotic artery (rat)	
1310613	Itgav	integrin subunit alpha V	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1321618	D	RGD:1627640|PMID:16784924	20070821	RGD			
1310613	Itgav	integrin subunit alpha V	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310613	Itgav	integrin subunit alpha V	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1321618	D	RGD:1582453|PMID:11997283	20061108	RGD			
1310613	Itgav	integrin subunit alpha V	gene	DOID:9007748	Retinal Neovascularization		ISO	RGD:1617623	D	RGD:1582452|PMID:12063036	20061108	RGD			
1310613	Itgav	integrin subunit alpha V	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310613	Itgav	integrin subunit alpha V	gene	DOID:9009121	lung metastasis	treatment	ISO	RGD:1321618	D	RGD:152998949|PMID:20841470	20220708	RGD		human cells in rat model	
1310613	Itgav	integrin subunit alpha V	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321618	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310613	Itgav	integrin subunit alpha V	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1321618	D	RGD:10755448|PMID:23770013	20160128	RGD			
1310613	Itgav	integrin subunit alpha V	gene	DOID:9256	colorectal cancer		ISO	RGD:1321618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:1115	sarcoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:1324	lung cancer		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:1909	melanoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603954	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310614	Creld2	CRELD disulfide isomerase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25356967|PMID:25741868|PMID:27601257|PMID:28492532|PMID:30887117|PMID:38374194
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:0050710	3-methylcrotonyl-CoA carboxylase deficiency		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 3 Methylcrotonylglycinuria | ClinVar Annotator: match by term: 3-MCC Deficiency | ClinVar Annotator: match by term: 3-methylcrotonylglycinuria | ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency	PMID:17576681|PMID:22642865|PMID:25382614|PMID:25741868|PMID:27601257|PMID:28492532|PMID:30626930|PMID:31730530|PMID:31901042|PMID:32746448|PMID:34573334|PMID:36822454|PMID:9536098
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:0080579	3-methylcrotonyl-CoA carboxylase 1 deficiency		ISO	RGD:1321620	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:0080579	3-methylcrotonyl-CoA carboxylase 1 deficiency		ISO	RGD:1321620	D	RGD:7240710	20130221	OMIM			
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:0080579	3-methylcrotonyl-CoA carboxylase 1 deficiency		ISO	RGD:1321620	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 | ClinVar Annotator: match by term: 3 Methylcrotonyl-CoA carboxylase 1 deficiency | ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency	PMID:11170888|PMID:11181649|PMID:11406611|PMID:14680978|PMID:15359379|PMID:15868465|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:17968484|PMID:19339287|PMID:21071250|PMID:22150417|PMID:22264772|PMID:22642865|PMID:24078573|PMID:25190158|PMID:25356967|PMID:25382614|PMID:25640679|PMID:25741868|PMID:26566957|PMID:27577216|PMID:27601257|PMID:28492532|PMID:29111448|PMID:30626930|PMID:30838026|PMID:30904546|PMID:31730530|PMID:31737040|PMID:31901042|PMID:32778825|PMID:34573334|PMID:35281663|PMID:35664874|PMID:36787440|PMID:36822454|PMID:38284445|PMID:38784038|PMID:3918858|PMID:39188588|PMID:6822454|PMID:9536098
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1321620	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10485305|PMID:11170888|PMID:11181649|PMID:14680978|PMID:15359379|PMID:15868465|PMID:16010683|PMID:16835865|PMID:17576681|PMID:21071250|PMID:22264772|PMID:22642865|PMID:24033266|PMID:25356967|PMID:25741868|PMID:28492532|PMID:29111448|PMID:30626930|PMID:9536098
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1321620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16010683|PMID:25741868|PMID:28492532
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321620	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1310615	Mccc1	methylcrotonyl-CoA carboxylase subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0060058	lymphoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0060135	apraxia		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:25741868
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0070396	progressive leukoencephalopathy with ovarian failure		ISO	RGD:1321623	D	RGD:7240710	20170503	OMIM			
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0070396	progressive leukoencephalopathy with ovarian failure		ISO	RGD:1321623	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AARS2-related condition | ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure	PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:30285085|PMID:30819764|PMID:33972171|PMID:35084689|PMID:38703036
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0110315	hypertrophic cardiomyopathy 9		ISO	RGD:1321623	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9	PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25326637|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:30285085
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111479	combined oxidative phosphorylation deficiency 8		ISO	RGD:1321623	D	RGD:7240710	20140903	OMIM			
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111479	combined oxidative phosphorylation deficiency 8		ISO	RGD:1321623	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AARS2-Related Disorders | ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8	PMID:16199547|PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29971983|PMID:30008475|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31106991
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:10579	leukodystrophy		ISO	RGD:1321623	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:30285085|PMID:30819764
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:118	pericardial effusion		ISO	RGD:1321623	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pericardial effusion	PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:30285085|PMID:30819764
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:1227	neutropenia		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	PMID:25741868|PMID:32581362
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:12849	autistic disorder		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:1510	personality disorder		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Personality disorder	PMID:25741868
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:2394	ovarian cancer		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:3275	thymoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:5041	esophageal cancer		ISO	RGD:1321623	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:6039	uveal melanoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1321623	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30285085|PMID:31099476|PMID:31885218|PMID:32080176|PMID:32319008|PMID:32581362|PMID:35305867
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1321623	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:30285085|PMID:30819764
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1321623	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disease	PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:30285085|PMID:30819764
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:8488	polyhydramnios		ISO	RGD:1321623	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:30285085|PMID:30819764
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1321623	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:30285085|PMID:30819764
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9000348	Confusion		ISO	RGD:1321623	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Confusion	PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:30285085|PMID:30819764
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9000495	Tremor		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor | ClinVar Annotator: match by term: Tremor	PMID:25741868
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9001722	Dysarthria		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1321623	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:30285085|PMID:30819764
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005883	Pleural Effusion		ISO	RGD:1321623	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pleural effusion	PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:30285085|PMID:30819764
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1321623	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:30285085|PMID:30819764
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1310617	Aars2	alanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1310618	Mkrn2	makorin, ring finger protein, 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310618	Mkrn2	makorin, ring finger protein, 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310618	Mkrn2	makorin, ring finger protein, 2	gene	DOID:1909	melanoma		ISO	RGD:1321625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310618	Mkrn2	makorin, ring finger protein, 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1321625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310618	Mkrn2	makorin, ring finger protein, 2	gene	DOID:3070	high grade glioma		ISO	RGD:1321625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310618	Mkrn2	makorin, ring finger protein, 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310618	Mkrn2	makorin, ring finger protein, 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310618	Mkrn2	makorin, ring finger protein, 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:0050332	enlarged vestibular aqueduct		ISS	RGD:1321628	D	RGD:13592920	20180518	MouseDO		OMIM:600791	
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:0050439	Usher syndrome		ISO	RGD:1321627	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Usher syndrome	PMID:30311386
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISS	RGD:1321628	D	RGD:13592920	20180518	MouseDO		OMIM:607197	
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:10907	microcephaly		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:18368028|PMID:25741868|PMID:28492532|PMID:9916796
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:14219	renal tubular acidosis		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal tubular acidosis	PMID:18368028|PMID:25741868|PMID:28492532|PMID:28844315|PMID:9916796
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:14219	renal tubular acidosis	susceptibility	ISO	RGD:1321627	D	RGD:1599372|PMID:9916796	20070131	RGD			
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:4362	cervical cancer		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:630	genetic disease		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:40794449
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:9000683	Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness		ISO	RGD:1321627	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:9000683	Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness		ISO	RGD:1321627	D	RGD:7240710	20190315	OMIM			
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:9000683	Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness		ISO	RGD:1321627	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ATP6V1B1-related condition | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PROGRESSIVE NERVE DEAFNESS | ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness	PMID:12414817|PMID:12566520|PMID:12579397|PMID:16199547|PMID:16433694|PMID:16611712|PMID:16769747|PMID:17216496|PMID:17576681|PMID:17669226|PMID:18368028|PMID:18798332|PMID:19364879|PMID:19478356|PMID:19639346|PMID:20805693|PMID:21614596|PMID:22509993|PMID:22966473|PMID:23923981|PMID:24033266|PMID:24252324|PMID:24975934|PMID:25164082|PMID:25285676|PMID:25498251|PMID:25741868|PMID:26467025|PMID:26571219|PMID:27247958|PMID:27767102|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28893421|PMID:29627839|PMID:29725771|PMID:30076350|PMID:30311386|PMID:30558562|PMID:30586318|PMID:30773598|PMID:31328266|PMID:31589614|PMID:31618753|PMID:31672324|PMID:31733597|PMID:31949730|PMID:31959358|PMID:33226606|PMID:33615106|PMID:34157794|PMID:34159584|PMID:34805638|PMID:35006361|PMID:35052694|PMID:35301649|PMID:35325889|PMID:35738466|PMID:35990030|PMID:36177613|PMID:36964972|PMID:37121229|PMID:38547852|PMID:39837581|PMID:39837851|PMID:40794449|PMID:8651253|PMID:9536098|PMID:9916796
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321627	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:16769747|PMID:18368028|PMID:24033266|PMID:25741868|PMID:30311386|PMID:9916796
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:30311386
1310619	Atp6v1b1	ATPase H+ transporting V1 subunit B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310620	Trpm5	transient receptor potential cation channel, subfamily M, member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310620	Trpm5	transient receptor potential cation channel, subfamily M, member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310620	Trpm5	transient receptor potential cation channel, subfamily M, member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310620	Trpm5	transient receptor potential cation channel, subfamily M, member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310620	Trpm5	transient receptor potential cation channel, subfamily M, member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310620	Trpm5	transient receptor potential cation channel, subfamily M, member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:1115	sarcoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:1324	lung cancer		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:1909	melanoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:3275	thymoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321631	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310621	Sorcs2	sortilin-related VPS10 domain containing receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310622	Stox1	storkhead box 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1321633	D	RGD:11553888|PMID:15806103	20161017	RGD		DNA:missense mutation:cds:p.Y153H (human)	
1310622	Stox1	storkhead box 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1321633	D	RGD:7248768|PMID:23357179	20161017	RGD		human fetally expressed gene in a mouse model	
1310622	Stox1	storkhead box 1	gene	DOID:10591	pre-eclampsia	no_association	ISO	RGD:1321633	D	RGD:11553890|PMID:17617193	20161017	RGD		DNA:missense mutation:cds:p.Y153H (human)	
1310622	Stox1	storkhead box 1	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:1321633	D	RGD:11554028|PMID:20110611	20161019	RGD		protein:increased expression:CA4 field of hippocampus (human)	
1310622	Stox1	storkhead box 1	gene	DOID:3275	thymoma		ISO	RGD:1321633	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310622	Stox1	storkhead box 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310622	Stox1	storkhead box 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310622	Stox1	storkhead box 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321633	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310622	Stox1	storkhead box 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1321633	D	RGD:11553897|PMID:26758611	20161017	RGD		associated with Pre-Eclampsia; human gene fetally expressed in a mouse model	
1310622	Stox1	storkhead box 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310622	Stox1	storkhead box 1	gene	DOID:9008239	Preeclampsia/Eclampsia 4		ISO	RGD:1321633	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310622	Stox1	storkhead box 1	gene	DOID:9008239	Preeclampsia/Eclampsia 4		ISO	RGD:1321633	D	RGD:7240710	20190327	OMIM			
1310622	Stox1	storkhead box 1	gene	DOID:9008239	Preeclampsia/Eclampsia 4		ISO	RGD:1321633	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PREECLAMPSIA/ECLAMPSIA 4 | ClinVar Annotator: match by term: Preeclampsia/eclampsia 4 | ClinVar Annotator: match by term: STOX1-related condition	PMID:25741868
1310623	Sft2d2	SFT2 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310623	Sft2d2	SFT2 domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1605217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310623	Sft2d2	SFT2 domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310623	Sft2d2	SFT2 domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1605217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310623	Sft2d2	SFT2 domain containing 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310623	Sft2d2	SFT2 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310623	Sft2d2	SFT2 domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310624	Nudcd1	NudC domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310624	Nudcd1	NudC domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349940	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310624	Nudcd1	NudC domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310624	Nudcd1	NudC domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310624	Nudcd1	NudC domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310624	Nudcd1	NudC domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310624	Nudcd1	NudC domain containing 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1349940	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1310624	Nudcd1	NudC domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310624	Nudcd1	NudC domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310624	Nudcd1	NudC domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310624	Nudcd1	NudC domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310624	Nudcd1	NudC domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310624	Nudcd1	NudC domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310624	Nudcd1	NudC domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310624	Nudcd1	NudC domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310625	Apoh	apolipoprotein H	gene	DOID:0051061	stroke		ISO	RGD:1321637	D	RGD:2313986|PMID:14595478	20091029	RGD			
1310625	Apoh	apolipoprotein H	gene	DOID:0060903	thrombosis		IDA		D	RGD:10054118|PMID:24642748	20150728	RGD			
1310625	Apoh	apolipoprotein H	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1321637	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:35654975
1310625	Apoh	apolipoprotein H	gene	DOID:1115	sarcoma		ISO	RGD:1321637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310625	Apoh	apolipoprotein H	gene	DOID:1324	lung cancer		ISO	RGD:1321637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310625	Apoh	apolipoprotein H	gene	DOID:2349	arteriosclerosis		ISO	RGD:1321637	D	RGD:2313992|PMID:6613192	20091029	RGD		protein:increased expression:serum	
1310625	Apoh	apolipoprotein H	gene	DOID:2988	antiphospholipid syndrome		ISO	RGD:1321637	D	RGD:10054118|PMID:24642748	20150728	RGD			
1310625	Apoh	apolipoprotein H	gene	DOID:341	peripheral vascular disease		ISO	RGD:1321637	D	RGD:2313983|PMID:17626983	20091029	RGD			
1310625	Apoh	apolipoprotein H	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310625	Apoh	apolipoprotein H	gene	DOID:4449	macular retinal edema		ISO	RGD:1321637	D	RGD:2315548|PMID:16080911	20150729	RGD		associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous:	
1310625	Apoh	apolipoprotein H	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310625	Apoh	apolipoprotein H	gene	DOID:5844	myocardial infarction		IDA		D	RGD:10054111|PMID:12826288	20150728	RGD			
1310625	Apoh	apolipoprotein H	gene	DOID:5844	myocardial infarction		ISO	RGD:1321637	D	RGD:2313985|PMID:15322656	20091029	RGD			
1310625	Apoh	apolipoprotein H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310625	Apoh	apolipoprotein H	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1321637	D	RGD:2313982|PMID:18695102	20091029	RGD		protein:increased expression:vitreous humor	
1310625	Apoh	apolipoprotein H	gene	DOID:9000888	Pregnancy in Diabetics		ISO	RGD:1321637	D	RGD:2313988|PMID:11795690	20091029	RGD			
1310625	Apoh	apolipoprotein H	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1321637	D	RGD:2313989|PMID:11302005	20091029	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum	
1310625	Apoh	apolipoprotein H	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1321638	D	RGD:10054118|PMID:24642748	20150728	RGD			
1310625	Apoh	apolipoprotein H	gene	DOID:9003002	Fetal Resorption		ISO	RGD:1321638	D	RGD:10054118|PMID:24642748	20150728	RGD			
1310625	Apoh	apolipoprotein H	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		IEP		D	RGD:10054107|PMID:23288050	20150728	RGD		mRNA:increased expression:plasma:	
1310625	Apoh	apolipoprotein H	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321637	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16099942
1310625	Apoh	apolipoprotein H	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:1321637	D	RGD:2313992|PMID:6613192	20091029	RGD			
1310625	Apoh	apolipoprotein H	gene	DOID:9351	diabetes mellitus		ISO	RGD:1321637	D	RGD:2313982|PMID:18695102	20091029	RGD		mRNA:increased expression:retina	
1310625	Apoh	apolipoprotein H	gene	DOID:9351	diabetes mellitus		ISO	RGD:1321637	D	RGD:2313991|PMID:9377806	20091029	RGD		protein:increased expression:plasma	
1310625	Apoh	apolipoprotein H	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1321637	D	RGD:2313984|PMID:16126948	20091029	RGD			
1310625	Apoh	apolipoprotein H	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1321638	D	RGD:2313990|PMID:9472678	20091029	RGD			
1310626	Zcchc2	zinc finger CCHC-type containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310626	Zcchc2	zinc finger CCHC-type containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310626	Zcchc2	zinc finger CCHC-type containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1343061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310626	Zcchc2	zinc finger CCHC-type containing 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1343061	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
1310626	Zcchc2	zinc finger CCHC-type containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310626	Zcchc2	zinc finger CCHC-type containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310626	Zcchc2	zinc finger CCHC-type containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310626	Zcchc2	zinc finger CCHC-type containing 2	gene	DOID:9001488	Human Influenza		ISO	RGD:1343061	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1310626	Zcchc2	zinc finger CCHC-type containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1343061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310628	Fbxo15	F-box protein 15	gene	DOID:10534	stomach cancer		ISO	RGD:1321642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310628	Fbxo15	F-box protein 15	gene	DOID:1115	sarcoma		ISO	RGD:1321642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310628	Fbxo15	F-box protein 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310628	Fbxo15	F-box protein 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310629	Nkx2-8	NK2 homeobox 8	gene	DOID:0080016	spina bifida		ISO	RGD:12245875	D	RGD:9068941	20230615	OMIA		Spinal dysraphism	PMID:1641930|PMID:22843830|PMID:23874236|PMID:26725976|PMID:375559|PMID:4434313|PMID:4732250|PMID:5023160|PMID:5318050|PMID:5339905|PMID:5893238|PMID:6756221|PMID:6756222|PMID:8578905
1310630	Uap1l1	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	gene	DOID:0080600	COVID-19		ISO	RGD:1321645	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310630	Uap1l1	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1321645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310630	Uap1l1	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310630	Uap1l1	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310630	Uap1l1	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310630	Uap1l1	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310630	Uap1l1	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321645	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1321647	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192919
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:0060478	Zika fever		ISO	RGD:1321647	D	RGD:11554173	20200331	CTD		CTD Direct Evidence: therapeutic	PMID:28694387
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:0110885	inflammatory bowel disease 10		ISO	RGD:1321647	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:0110885	inflammatory bowel disease 10		ISO	RGD:1321647	D	RGD:7240710	20130425	OMIM			
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:0110885	inflammatory bowel disease 10		ISO	RGD:1321647	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATG16L1-related condition | ClinVar Annotator: match by term: Inflammatory bowel disease 10	PMID:25741868|PMID:30166421
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:0110885	inflammatory bowel disease 10		ISS	RGD:1553543	D	RGD:13592920	20230718	MouseDO		OMIM:611081	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:1909	melanoma		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:3275	thymoma		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321647	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321647	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:8778	Crohn's disease		ISO	RGD:1321647	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17435756|PMID:18438406
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1553543	D	RGD:329902072|PMID:34400126	20230630	RGD			
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:9003936	Cardiomegaly	treatment	IEP		D	RGD:11561938|PMID:24998254	20161111	RGD			
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310631	Atg16l1	autophagy related 16-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310633	Upk3a	uroplakin 3A	gene	DOID:10534	stomach cancer		ISO	RGD:1321651	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310633	Upk3a	uroplakin 3A	gene	DOID:1115	sarcoma		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310633	Upk3a	uroplakin 3A	gene	DOID:14766	renal agenesis		ISO	RGD:1321651	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RENAL APLASIA	PMID:25741868|PMID:28492532
1310633	Upk3a	uroplakin 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310633	Upk3a	uroplakin 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310633	Upk3a	uroplakin 3A	gene	DOID:9003763	Renal Hypodysplasia/Aplasia 1		ISO	RGD:1321651	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1	PMID:25741868|PMID:27657687|PMID:28492532
1310633	Upk3a	uroplakin 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310633	Upk3a	uroplakin 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310633	Upk3a	uroplakin 3A	gene	DOID:9620	vesicoureteral reflux		ISS	RGD:1321652	D	RGD:13592920	20180518	MouseDO		OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963	
1310636	Zfp7	zinc finger protein 7	gene	DOID:10534	stomach cancer		ISO	RGD:1321655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310636	Zfp7	zinc finger protein 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310636	Zfp7	zinc finger protein 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310636	Zfp7	zinc finger protein 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310636	Zfp7	zinc finger protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310636	Zfp7	zinc finger protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321655	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310636	Zfp7	zinc finger protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310638	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310638	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310638	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:1115	sarcoma		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310638	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:1324	lung cancer		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310638	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310638	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310638	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310638	Entpd7	ectonucleoside triphosphate diphosphohydrolase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310639	Ccna1	cyclin A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310639	Ccna1	cyclin A1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1321661	D	RGD:2316302|PMID:18612129	20100204	RGD		human gene, mouse model	
1310639	Ccna1	cyclin A1	gene	DOID:11166	Human papillomavirus infectious disease		ISO	RGD:1321661	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23358896
1310639	Ccna1	cyclin A1	gene	DOID:1909	melanoma		ISO	RGD:1321661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310639	Ccna1	cyclin A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321661	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310639	Ccna1	cyclin A1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321661	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:23358896|PMID:29464035
1310639	Ccna1	cyclin A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310639	Ccna1	cyclin A1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310639	Ccna1	cyclin A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321661	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12029619
1310639	Ccna1	cyclin A1	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:1321661	D	RGD:2289152|PMID:15800920	20100205	RGD		mRNA:decreased expression:testis (human)	
1310639	Ccna1	cyclin A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321661	D	RGD:2316304|PMID:10068680	20100204	RGD		protein:increased expression:leukocyte (human)	
1310639	Ccna1	cyclin A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310640	Fndc1	fibronectin type III domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310640	Fndc1	fibronectin type III domain containing 1	gene	DOID:0060250	idiopathic scoliosis		ISO	RGD:1321663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1	
1310640	Fndc1	fibronectin type III domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310640	Fndc1	fibronectin type III domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310640	Fndc1	fibronectin type III domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1321663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310640	Fndc1	fibronectin type III domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310640	Fndc1	fibronectin type III domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321663	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310640	Fndc1	fibronectin type III domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310640	Fndc1	fibronectin type III domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310640	Fndc1	fibronectin type III domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310640	Fndc1	fibronectin type III domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310640	Fndc1	fibronectin type III domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310640	Fndc1	fibronectin type III domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310640	Fndc1	fibronectin type III domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1321663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310641	Cfap206	cilia and flagella associated protein 206	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310641	Cfap206	cilia and flagella associated protein 206	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310641	Cfap206	cilia and flagella associated protein 206	gene	DOID:0060058	lymphoma		ISO	RGD:1321665	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310641	Cfap206	cilia and flagella associated protein 206	gene	DOID:0070731	spermatogenic failure 102		ISO	RGD:1321665	D	RGD:7240710	20251105	OMIM			
1310641	Cfap206	cilia and flagella associated protein 206	gene	DOID:0070731	spermatogenic failure 102		ISO	RGD:1321665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 102	
1310641	Cfap206	cilia and flagella associated protein 206	gene	DOID:10534	stomach cancer		ISO	RGD:1321665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310641	Cfap206	cilia and flagella associated protein 206	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310641	Cfap206	cilia and flagella associated protein 206	gene	DOID:1909	melanoma		ISO	RGD:1321665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310641	Cfap206	cilia and flagella associated protein 206	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310641	Cfap206	cilia and flagella associated protein 206	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310641	Cfap206	cilia and flagella associated protein 206	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310643	Cass4	Cas scaffold protein family member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310643	Cass4	Cas scaffold protein family member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310643	Cass4	Cas scaffold protein family member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310643	Cass4	Cas scaffold protein family member 4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1321668	D	RGD:11554173	20210413	CTD		CTD Direct Evidence: marker/mechanism	PMID:30320580|PMID:33589840
1310643	Cass4	Cas scaffold protein family member 4	gene	DOID:1909	melanoma		ISO	RGD:1321668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310643	Cass4	Cas scaffold protein family member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321668	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310643	Cass4	Cas scaffold protein family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310643	Cass4	Cas scaffold protein family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310644	Cul2	cullin 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1321670	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983784
1310644	Cul2	cullin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310644	Cul2	cullin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310644	Cul2	cullin 2	gene	DOID:1324	lung cancer		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310644	Cul2	cullin 2	gene	DOID:1909	melanoma		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310644	Cul2	cullin 2	gene	DOID:3070	high grade glioma		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310644	Cul2	cullin 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310644	Cul2	cullin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310644	Cul2	cullin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321670	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310644	Cul2	cullin 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310644	Cul2	cullin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310644	Cul2	cullin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310644	Cul2	cullin 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310644	Cul2	cullin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310644	Cul2	cullin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310644	Cul2	cullin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310644	Cul2	cullin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1321670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310645	Zfp407	zinc finger protein 407	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310645	Zfp407	zinc finger protein 407	gene	DOID:1115	sarcoma		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310645	Zfp407	zinc finger protein 407	gene	DOID:1324	lung cancer		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310645	Zfp407	zinc finger protein 407	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310645	Zfp407	zinc finger protein 407	gene	DOID:4362	cervical cancer		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310645	Zfp407	zinc finger protein 407	gene	DOID:5041	esophageal cancer		ISO	RGD:1344883	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310645	Zfp407	zinc finger protein 407	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310645	Zfp407	zinc finger protein 407	gene	DOID:9000997	Tsukahara Syndrome		ISO	RGD:1344883	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Radioulnar synostosis-microcephaly-scoliosis syndrome	PMID:25741868
1310645	Zfp407	zinc finger protein 407	gene	DOID:9003499	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES		ISO	RGD:1344883	D	RGD:7240710	20211215	OMIM			
1310645	Zfp407	zinc finger protein 407	gene	DOID:9003499	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES		ISO	RGD:1344883	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES | ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | ClinVar Annotator: match by term: ZNF407-related condition	PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
1310645	Zfp407	zinc finger protein 407	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310645	Zfp407	zinc finger protein 407	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310646	Wdr18	WD repeat domain 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310646	Wdr18	WD repeat domain 18	gene	DOID:1324	lung cancer		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310646	Wdr18	WD repeat domain 18	gene	DOID:3275	thymoma		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310646	Wdr18	WD repeat domain 18	gene	DOID:4362	cervical cancer		ISO	RGD:1321673	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310646	Wdr18	WD repeat domain 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1321673	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310646	Wdr18	WD repeat domain 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310646	Wdr18	WD repeat domain 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310646	Wdr18	WD repeat domain 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310646	Wdr18	WD repeat domain 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310646	Wdr18	WD repeat domain 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310648	Mrap	melanocortin 2 receptor accessory protein	gene	DOID:0061242	glucocorticoid deficiency 2		ISO	RGD:1603024	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310648	Mrap	melanocortin 2 receptor accessory protein	gene	DOID:0061242	glucocorticoid deficiency 2		ISO	RGD:1603024	D	RGD:7240710	20130731	OMIM			
1310648	Mrap	melanocortin 2 receptor accessory protein	gene	DOID:0061242	glucocorticoid deficiency 2		ISO	RGD:1603024	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLUCOCORTICOID DEFICIENCY 2 | ClinVar Annotator: match by term: Glucocorticoid deficiency 2	PMID:15654338|PMID:24033266|PMID:25741868
1310648	Mrap	melanocortin 2 receptor accessory protein	gene	DOID:0061242	glucocorticoid deficiency 2		ISS	RGD:1621455	D	RGD:13592920	20260423	MouseDO		OMIM:607398	
1310648	Mrap	melanocortin 2 receptor accessory protein	gene	DOID:0080621	glucocorticoid deficiency 1		ISO	RGD:1603024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glucocorticoid deficiency 1	
1310648	Mrap	melanocortin 2 receptor accessory protein	gene	DOID:630	genetic disease		ISO	RGD:1603024	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:34174832
1310649	Grwd1	glutamate-rich WD repeat containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310649	Grwd1	glutamate-rich WD repeat containing 1	gene	DOID:0060774	congenital diarrhea		ISO	RGD:1344190	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital diarrhea	PMID:25741868
1310649	Grwd1	glutamate-rich WD repeat containing 1	gene	DOID:10283	prostate cancer		ISO	RGD:1344190	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310649	Grwd1	glutamate-rich WD repeat containing 1	gene	DOID:10283	prostate cancer		ISO	RGD:1344190	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310649	Grwd1	glutamate-rich WD repeat containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310649	Grwd1	glutamate-rich WD repeat containing 1	gene	DOID:1909	melanoma		ISO	RGD:1344190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310649	Grwd1	glutamate-rich WD repeat containing 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1344190	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1310649	Grwd1	glutamate-rich WD repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310649	Grwd1	glutamate-rich WD repeat containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344190	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310649	Grwd1	glutamate-rich WD repeat containing 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1344190	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1310649	Grwd1	glutamate-rich WD repeat containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310649	Grwd1	glutamate-rich WD repeat containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310649	Grwd1	glutamate-rich WD repeat containing 1	gene	DOID:9009332	congenital diarrhea 14		ISO	RGD:1344190	D	RGD:7240710	20250423	OMIM			
1310649	Grwd1	glutamate-rich WD repeat containing 1	gene	DOID:9009332	congenital diarrhea 14		ISO	RGD:1344190	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIARRHEA 14, CONGENITAL | ClinVar Annotator: match by term: GRWD1-related disorder	PMID:25741868
1310650	Kif14	kinesin family member 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310650	Kif14	kinesin family member 14	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1321678	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	
1310650	Kif14	kinesin family member 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310650	Kif14	kinesin family member 14	gene	DOID:0051031	primary autosomal recessive microcephaly 20		ISO	RGD:1321678	D	RGD:7240710	20190315	OMIM			
1310650	Kif14	kinesin family member 14	gene	DOID:0051031	primary autosomal recessive microcephaly 20		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 20, primary, autosomal recessive	PMID:25741868|PMID:28492532|PMID:28892560|PMID:29343805|PMID:30388224
1310650	Kif14	kinesin family member 14	gene	DOID:0061297	Meckel syndrome 12		ISO	RGD:1321678	D	RGD:7240710	20170510	OMIM			
1310650	Kif14	kinesin family member 14	gene	DOID:0061297	Meckel syndrome 12		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KIF14-related condition | ClinVar Annotator: match by term: Meckel syndrome 12	PMID:16199547|PMID:23308235|PMID:25741868|PMID:28492532|PMID:29343805|PMID:30388224
1310650	Kif14	kinesin family member 14	gene	DOID:0080600	COVID-19		ISO	RGD:1321678	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310650	Kif14	kinesin family member 14	gene	DOID:10534	stomach cancer		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310650	Kif14	kinesin family member 14	gene	DOID:10907	microcephaly		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1310650	Kif14	kinesin family member 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310650	Kif14	kinesin family member 14	gene	DOID:1115	sarcoma		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310650	Kif14	kinesin family member 14	gene	DOID:12849	autistic disorder		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1310650	Kif14	kinesin family member 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1310650	Kif14	kinesin family member 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310650	Kif14	kinesin family member 14	gene	DOID:630	genetic disease		ISO	RGD:1321678	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36307859
1310650	Kif14	kinesin family member 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321678	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310650	Kif14	kinesin family member 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310650	Kif14	kinesin family member 14	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1310650	Kif14	kinesin family member 14	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1310650	Kif14	kinesin family member 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310650	Kif14	kinesin family member 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310651	Rbm33	RNA binding motif protein 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310651	Rbm33	RNA binding motif protein 33	gene	DOID:10534	stomach cancer		ISO	RGD:1604982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310651	Rbm33	RNA binding motif protein 33	gene	DOID:1115	sarcoma		ISO	RGD:1604982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310651	Rbm33	RNA binding motif protein 33	gene	DOID:3275	thymoma		ISO	RGD:1604982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310651	Rbm33	RNA binding motif protein 33	gene	DOID:4362	cervical cancer		ISO	RGD:1604982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310651	Rbm33	RNA binding motif protein 33	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310651	Rbm33	RNA binding motif protein 33	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310651	Rbm33	RNA binding motif protein 33	gene	DOID:5041	esophageal cancer		ISO	RGD:1604982	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310651	Rbm33	RNA binding motif protein 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310651	Rbm33	RNA binding motif protein 33	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310651	Rbm33	RNA binding motif protein 33	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310651	Rbm33	RNA binding motif protein 33	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310651	Rbm33	RNA binding motif protein 33	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310652	Lad1	ladinin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310652	Lad1	ladinin 1	gene	DOID:1115	sarcoma		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310652	Lad1	ladinin 1	gene	DOID:1324	lung cancer		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310652	Lad1	ladinin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321680	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310652	Lad1	ladinin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310652	Lad1	ladinin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310652	Lad1	ladinin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310652	Lad1	ladinin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1310654	Rtf1	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310654	Rtf1	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	gene	DOID:10534	stomach cancer		ISO	RGD:1321684	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310654	Rtf1	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310654	Rtf1	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	gene	DOID:12930	dilated cardiomyopathy		ISS	RGD:1321685	D	RGD:13592920	20230914	MouseDO			
1310654	Rtf1	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	gene	DOID:1909	melanoma		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310654	Rtf1	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	gene	DOID:3275	thymoma		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310654	Rtf1	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	gene	DOID:5041	esophageal cancer		ISO	RGD:1321684	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310654	Rtf1	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310654	Rtf1	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310654	Rtf1	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310655	Abhd3	abhydrolase domain containing 3, phospholipase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310655	Abhd3	abhydrolase domain containing 3, phospholipase	gene	DOID:10534	stomach cancer		ISO	RGD:1321686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310655	Abhd3	abhydrolase domain containing 3, phospholipase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310655	Abhd3	abhydrolase domain containing 3, phospholipase	gene	DOID:3275	thymoma		ISO	RGD:1321686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310655	Abhd3	abhydrolase domain containing 3, phospholipase	gene	DOID:5041	esophageal cancer		ISO	RGD:1321686	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310655	Abhd3	abhydrolase domain containing 3, phospholipase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310655	Abhd3	abhydrolase domain containing 3, phospholipase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310655	Abhd3	abhydrolase domain containing 3, phospholipase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310655	Abhd3	abhydrolase domain containing 3, phospholipase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310656	Pheta1	PH domain containing endocytic trafficking adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310656	Pheta1	PH domain containing endocytic trafficking adaptor 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1602835	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1321690	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:0080600	COVID-19		ISO	RGD:1321690	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:12849	autistic disorder		ISO	RGD:1321690	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 15	PMID:25741868
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1321690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:1826	epilepsy		ISO	RGD:1321690	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1321690	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:630	genetic disease		ISO	RGD:1321690	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310658	Kctd3	potassium channel tetramerization domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310660	Ppdpf	pancreatic progenitor cell differentiation and proliferation factor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISS	RGD:1321694	D	RGD:13592920	20210826	MouseDO		OMIM:613282 | OMIM:613387	
1310660	Ppdpf	pancreatic progenitor cell differentiation and proliferation factor	gene	DOID:0080600	COVID-19		ISO	RGD:1321693	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD8+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
1310660	Ppdpf	pancreatic progenitor cell differentiation and proliferation factor	gene	DOID:1324	lung cancer		ISO	RGD:1321693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310660	Ppdpf	pancreatic progenitor cell differentiation and proliferation factor	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1321693	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
1310660	Ppdpf	pancreatic progenitor cell differentiation and proliferation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310660	Ppdpf	pancreatic progenitor cell differentiation and proliferation factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310660	Ppdpf	pancreatic progenitor cell differentiation and proliferation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310661	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310661	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310661	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310661	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310661	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310661	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310661	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310661	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1604300	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310661	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310661	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310661	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310661	Noc4l	nucleolar complex associated 4 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310662	Fbf1	Fas binding factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310662	Fbf1	Fas binding factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310662	Fbf1	Fas binding factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310662	Fbf1	Fas binding factor 1	gene	DOID:1909	melanoma		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310662	Fbf1	Fas binding factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310662	Fbf1	Fas binding factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310662	Fbf1	Fas binding factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310662	Fbf1	Fas binding factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310662	Fbf1	Fas binding factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310662	Fbf1	Fas binding factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310662	Fbf1	Fas binding factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310663	Nol4	nucleolar protein 4	gene	DOID:1909	melanoma		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310663	Nol4	nucleolar protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310663	Nol4	nucleolar protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1321698	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310663	Nol4	nucleolar protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310663	Nol4	nucleolar protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310663	Nol4	nucleolar protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310663	Nol4	nucleolar protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310664	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:1059	intellectual disability		ISO	RGD:1321699	D	RGD:8554872	20180306	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1310664	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310664	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310664	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310664	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310664	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310664	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310664	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1321699	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23811263
1310664	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:9004637	Autosomal Recessive Intellectual Developmental Disorder 79		ISO	RGD:1321699	D	RGD:7240710	20230531	OMIM			
1310664	Tpr	translocated promoter region, nuclear basket protein	gene	DOID:9004637	Autosomal Recessive Intellectual Developmental Disorder 79		ISO	RGD:1321699	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 79	PMID:25741868
1310667	Slc25a2	solute carrier family 25 member 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347291	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1310668	Afap1l2	actin filament associated protein 1-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310668	Afap1l2	actin filament associated protein 1-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310668	Afap1l2	actin filament associated protein 1-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310668	Afap1l2	actin filament associated protein 1-like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310668	Afap1l2	actin filament associated protein 1-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1321706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310668	Afap1l2	actin filament associated protein 1-like 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1321706	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29059373
1310668	Afap1l2	actin filament associated protein 1-like 2	gene	DOID:3275	thymoma		ISO	RGD:1321706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310668	Afap1l2	actin filament associated protein 1-like 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310668	Afap1l2	actin filament associated protein 1-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310668	Afap1l2	actin filament associated protein 1-like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310668	Afap1l2	actin filament associated protein 1-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310668	Afap1l2	actin filament associated protein 1-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310668	Afap1l2	actin filament associated protein 1-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310668	Afap1l2	actin filament associated protein 1-like 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1321706	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310669	Cwc15	CWC15 spliceosome-associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310669	Cwc15	CWC15 spliceosome-associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310669	Cwc15	CWC15 spliceosome-associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310669	Cwc15	CWC15 spliceosome-associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310669	Cwc15	CWC15 spliceosome-associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604821	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310669	Cwc15	CWC15 spliceosome-associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1604821	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310669	Cwc15	CWC15 spliceosome-associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310669	Cwc15	CWC15 spliceosome-associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310670	Iqch	IQ motif containing H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310670	Iqch	IQ motif containing H	gene	DOID:1909	melanoma		ISO	RGD:1604310	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1310670	Iqch	IQ motif containing H	gene	DOID:4362	cervical cancer		ISO	RGD:1604310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310670	Iqch	IQ motif containing H	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310670	Iqch	IQ motif containing H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310670	Iqch	IQ motif containing H	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310671	Rmi1	RecQ mediated genome instability 1	gene	DOID:0080600	COVID-19		ISO	RGD:1321710	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310671	Rmi1	RecQ mediated genome instability 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321710	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310671	Rmi1	RecQ mediated genome instability 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310671	Rmi1	RecQ mediated genome instability 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310671	Rmi1	RecQ mediated genome instability 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1321710	D	RGD:8554872	20210810	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310672	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310672	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310672	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310672	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310672	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310672	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310672	Arhgef3	Rho guanine nucleotide exchange factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:0060604	ankyloglossia		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:1059	intellectual disability		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:10907	microcephaly		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:1115	sarcoma		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:1143	exotropia		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:1324	lung cancer		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:1826	epilepsy		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:2030	anxiety disorder		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:3275	thymoma		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:4188	echolalia		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:535	sleep disorder		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:630	genetic disease		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:9000495	Tremor		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:9001031	Retrognathia		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:9001150	neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies		ISO	RGD:1604348	D	RGD:7240710	20191113	OMIM			
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:9001150	neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies		ISO	RGD:1604348	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	PMID:25741868|PMID:31495489|PMID:37880672
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:9004866	Ataxia		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604348	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex febrile seizure	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:9008675	Dyskinesias		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868
1310674	Smpd4	sphingomyelin phosphodiesterase 4	gene	DOID:9834	hyperopia		ISO	RGD:1604348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1310675	Ropn1	rhophilin associated tail protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310676	Pcdhga8	protocadherin gamma subfamily A, 8	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321718	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1310677	Togaram2	TOG array regulator of axonemal microtubules 2	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1603353	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness	
1310677	Togaram2	TOG array regulator of axonemal microtubules 2	gene	DOID:1324	lung cancer		ISO	RGD:1603353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310677	Togaram2	TOG array regulator of axonemal microtubules 2	gene	DOID:3275	thymoma		ISO	RGD:1603353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310677	Togaram2	TOG array regulator of axonemal microtubules 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310677	Togaram2	TOG array regulator of axonemal microtubules 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310677	Togaram2	TOG array regulator of axonemal microtubules 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310677	Togaram2	TOG array regulator of axonemal microtubules 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310677	Togaram2	TOG array regulator of axonemal microtubules 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1603353	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	
1310677	Togaram2	TOG array regulator of axonemal microtubules 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310677	Togaram2	TOG array regulator of axonemal microtubules 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310677	Togaram2	TOG array regulator of axonemal microtubules 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310678	Cldn15	claudin 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310678	Cldn15	claudin 15	gene	DOID:10534	stomach cancer		ISO	RGD:1321720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310678	Cldn15	claudin 15	gene	DOID:1324	lung cancer		ISO	RGD:1321720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310678	Cldn15	claudin 15	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1321720	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:28377727
1310678	Cldn15	claudin 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310678	Cldn15	claudin 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310680	Tmem151a	transmembrane protein 151A	gene	DOID:0060944	episodic kinesigenic dyskinesia 3		ISO	RGD:1606118	D	RGD:7240710	20240619	OMIM			
1310680	Tmem151a	transmembrane protein 151A	gene	DOID:0060944	episodic kinesigenic dyskinesia 3		ISO	RGD:1606118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPISODIC KINESIGENIC DYSKINESIA 3 | ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 3 | ClinVar Annotator: match by term: TMEM151A-related condition	PMID:25741868|PMID:34820915
1310680	Tmem151a	transmembrane protein 151A	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1606118	D	RGD:11554173	20161122	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1310680	Tmem151a	transmembrane protein 151A	gene	DOID:543	dystonia		ISO	RGD:1606118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:34820915
1310680	Tmem151a	transmembrane protein 151A	gene	DOID:630	genetic disease		ISO	RGD:1606118	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310680	Tmem151a	transmembrane protein 151A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1606118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:34820915
1310681	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310681	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:0060340	ciliopathy		ISO	RGD:1604747	D	RGD:11554173	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30395363
1310681	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310681	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:11193	syndactyly		ISO	RGD:1604747	D	RGD:11554173	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30395363
1310681	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:1148	polydactyly		ISS	RGD:1332560	D	RGD:13592920	20190606	MouseDO		OMIM:174200 | OMIM:174500 | OMIM:174700 | OMIM:603596	
1310681	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310681	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310681	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310681	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:9002200	Postaxial Polydactyly, Type A9		ISO	RGD:1604747	D	RGD:7240710	20190315	OMIM			
1310681	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:9002200	Postaxial Polydactyly, Type A9		ISO	RGD:1604747	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polydactyly, postaxial, type A9	PMID:25741868
1310681	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:9003488	Postaxial Polydactyly, Type A1		ISO	RGD:1604747	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:30395363
1310681	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:9003488	Postaxial Polydactyly, Type A1		ISO	RGD:1604747	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly type A	PMID:25741868
1310681	Cibar1	CBY1 interacting BAR domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1321726	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL	PMID:10332040|PMID:10441568|PMID:16006427|PMID:21031596|PMID:25741868|PMID:27827795|PMID:28492532
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:0080377	peroxisomal biogenesis disorder		ISO	RGD:1321726	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10332040|PMID:10441568|PMID:19449432
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:0080479	peroxisome biogenesis disorder 4A		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger)	
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:0080485	peroxisome biogenesis disorder 11A		ISO	RGD:1321726	D	RGD:7240710	20140911	OMIM			
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:0080485	peroxisome biogenesis disorder 11A		ISO	RGD:1321726	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) | ClinVar Annotator: match by term: PEX13-related disorder | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger)	PMID:10332040|PMID:10441568|PMID:16006427|PMID:16199547|PMID:17041890|PMID:17576681|PMID:21031596|PMID:23716570|PMID:25741868|PMID:27827795|PMID:28492532|PMID:33190326|PMID:35854306|PMID:37962062|PMID:9536098
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:0081439	Peroxisome biogenesis disorder 11B		ISO	RGD:1321726	D	RGD:7240710	20140911	OMIM			
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:0081439	Peroxisome biogenesis disorder 11B		ISO	RGD:1321726	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 11B | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11B	PMID:10332040|PMID:10441568|PMID:16006427|PMID:21031596|PMID:25741868|PMID:27827795|PMID:28492532
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:10534	stomach cancer		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:1321726	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10441568
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:3070	high grade glioma		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:3275	thymoma		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:4362	cervical cancer		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:630	genetic disease		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:905	Zellweger syndrome		ISO	RGD:1321726	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10332040|PMID:19449432
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:905	Zellweger syndrome		ISO	RGD:1321726	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum	PMID:10332040|PMID:10441568|PMID:16006427|PMID:21031596|PMID:25741868|PMID:27827795|PMID:28492532|PMID:33190326|PMID:35854306|PMID:37962062|PMID:9480815
1310682	Pex13	peroxisomal biogenesis factor 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310683	Ccnyl1	cyclin Y-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310683	Ccnyl1	cyclin Y-like 1	gene	DOID:3275	thymoma		ISO	RGD:1606146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310683	Ccnyl1	cyclin Y-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310683	Ccnyl1	cyclin Y-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310683	Ccnyl1	cyclin Y-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310684	Immt	inner membrane mitochondrial protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310684	Immt	inner membrane mitochondrial protein	gene	DOID:0111428	essential tremor 1		ISO	RGD:1321729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	
1310684	Immt	inner membrane mitochondrial protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310684	Immt	inner membrane mitochondrial protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310684	Immt	inner membrane mitochondrial protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1321729	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310684	Immt	inner membrane mitochondrial protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310684	Immt	inner membrane mitochondrial protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310684	Immt	inner membrane mitochondrial protein	gene	DOID:8398	osteoarthritis		ISO	RGD:1321729	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1310684	Immt	inner membrane mitochondrial protein	gene	DOID:9002079	Paresis		ISO	RGD:1321729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	
1310684	Immt	inner membrane mitochondrial protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310684	Immt	inner membrane mitochondrial protein	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321729	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1310684	Immt	inner membrane mitochondrial protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310685	Atg13	autophagy related 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310685	Atg13	autophagy related 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310685	Atg13	autophagy related 13	gene	DOID:10283	prostate cancer		ISO	RGD:1602498	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310685	Atg13	autophagy related 13	gene	DOID:10283	prostate cancer		ISO	RGD:1602498	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310685	Atg13	autophagy related 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310685	Atg13	autophagy related 13	gene	DOID:1115	sarcoma		ISO	RGD:1602498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310685	Atg13	autophagy related 13	gene	DOID:3275	thymoma		ISO	RGD:1602498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310685	Atg13	autophagy related 13	gene	DOID:4362	cervical cancer		ISO	RGD:1602498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310685	Atg13	autophagy related 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310685	Atg13	autophagy related 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310685	Atg13	autophagy related 13	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1332180	D	RGD:329902072|PMID:34400126	20230630	RGD			
1310685	Atg13	autophagy related 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310685	Atg13	autophagy related 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310685	Atg13	autophagy related 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310686	Cdip1	cell death-inducing p53 target 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310686	Cdip1	cell death-inducing p53 target 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321732	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310686	Cdip1	cell death-inducing p53 target 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310686	Cdip1	cell death-inducing p53 target 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310686	Cdip1	cell death-inducing p53 target 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310687	Elf3	E74 like ETS transcription factor 3	gene	DOID:0050625	biliary tract benign neoplasm		ISO	RGD:1321734	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26258846
1310687	Elf3	E74 like ETS transcription factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310687	Elf3	E74 like ETS transcription factor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310687	Elf3	E74 like ETS transcription factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1321734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310687	Elf3	E74 like ETS transcription factor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310687	Elf3	E74 like ETS transcription factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310687	Elf3	E74 like ETS transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310687	Elf3	E74 like ETS transcription factor 3	gene	DOID:9000310	Lung Injury		ISO	RGD:1321734	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:21709667
1310688	Nck1	NCK adaptor protein 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1321736	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
1310688	Nck1	NCK adaptor protein 1	gene	DOID:3275	thymoma		ISO	RGD:1321736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310688	Nck1	NCK adaptor protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310688	Nck1	NCK adaptor protein 1	gene	DOID:576	proteinuria		ISO	RGD:1321736	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
1310688	Nck1	NCK adaptor protein 1	gene	DOID:9001542	Albuminuria		ISO	RGD:1321736	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:0060933	developmental delay, dysmorphic facies, and brain anomalies		ISO	RGD:1321740	D	RGD:7240710	20240124	OMIM			
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:0060933	developmental delay, dysmorphic facies, and brain anomalies		ISO	RGD:1321740	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES | ClinVar Annotator: match by term: Developmental delay, dysmorphic facies, and brain anomalies	PMID:25741868|PMID:28492532|PMID:33057194|PMID:34112922|PMID:35982159|PMID:37092751|PMID:37962958
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:10579	leukodystrophy		ISO	RGD:1321740	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1321740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:3275	thymoma		ISO	RGD:1321740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321740	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:630	genetic disease		ISO	RGD:1321740	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34112922|PMID:37092751|PMID:37962958
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321740	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310690	U2af2	U2 small nuclear RNA auxiliary factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310691	Golt1b	golgi transport 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310691	Golt1b	golgi transport 1B	gene	DOID:1115	sarcoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310691	Golt1b	golgi transport 1B	gene	DOID:1324	lung cancer		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310691	Golt1b	golgi transport 1B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310691	Golt1b	golgi transport 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310691	Golt1b	golgi transport 1B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310691	Golt1b	golgi transport 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1310691	Golt1b	golgi transport 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349948	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:0051049	congenital disorder of glycosylation type IIt		ISO	RGD:1321743	D	RGD:7240710	20200610	OMIM			
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:0051049	congenital disorder of glycosylation type IIt		ISO	RGD:1321743	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type iit | ClinVar Annotator: match by term: GALNT2-related condition	PMID:25741868|PMID:27508872|PMID:28097321|PMID:28492532|PMID:32293671
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:0080600	COVID-19		ISO	RGD:1321743	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:1596	depressive disorder		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:480	movement disease		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310692	Galnt2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310693	Rsph9	radial spoke head component 9	gene	DOID:0110601	primary ciliary dyskinesia 12		ISO	RGD:1321745	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310693	Rsph9	radial spoke head component 9	gene	DOID:0110601	primary ciliary dyskinesia 12		ISO	RGD:1321745	D	RGD:7240710	20130221	OMIM			
1310693	Rsph9	radial spoke head component 9	gene	DOID:0110601	primary ciliary dyskinesia 12		ISO	RGD:1321745	D	RGD:8554872	20250821	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 | ClinVar Annotator: match by term: RSPH9-related disorder	PMID:19200523|PMID:23993197|PMID:24033266|PMID:25741868|PMID:25789548|PMID:28492532
1310693	Rsph9	radial spoke head component 9	gene	DOID:0112253	combined cellular and humoral immune defects with granulomas		ISO	RGD:1321745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas	PMID:19200523|PMID:25741868
1310693	Rsph9	radial spoke head component 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310693	Rsph9	radial spoke head component 9	gene	DOID:3275	thymoma		ISO	RGD:1321745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310693	Rsph9	radial spoke head component 9	gene	DOID:4362	cervical cancer		ISO	RGD:1321745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310693	Rsph9	radial spoke head component 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310693	Rsph9	radial spoke head component 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310693	Rsph9	radial spoke head component 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310693	Rsph9	radial spoke head component 9	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1321745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:19200523|PMID:22384920|PMID:23993197|PMID:24033266|PMID:24307375|PMID:25741868|PMID:25789548|PMID:28492532|PMID:30067075
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:1909	melanoma		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1321747	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:3275	thymoma		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321747	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:630	genetic disease		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:674	cleft palate		ISO	RGD:1321747	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19706529
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1321747	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20852632
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:9006024	Hypotension		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotension	PMID:25741868|PMID:28492532
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:9007386	Congenital Lower Urinary Tract Obstruction		ISO	RGD:1321747	D	RGD:7240710	20191113	OMIM			
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:9007386	Congenital Lower Urinary Tract Obstruction		ISO	RGD:1321747	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BNC2-related condition | ClinVar Annotator: match by term: LOWER URINARY TRACT OBSTRUCTION, CONGENITAL | ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital | ClinVar Annotator: match by term: lower urinary tract obstruction, congenital	PMID:25605705|PMID:25741868|PMID:28492532|PMID:31051115
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1321747	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19706529
1310694	Bnc2	basonuclin zinc finger protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar Annotator: match by term: Dysmetria	PMID:25741868
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:0050952	spastic ataxia		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532|PMID:32333447|PMID:38374194
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:32333447|PMID:38374194
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:0110162	Charcot-Marie-Tooth disease, axonal type 2W		ISO	RGD:1350214	D	RGD:7240710	20170301	OMIM			
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:0110162	Charcot-Marie-Tooth disease, axonal type 2W		ISO	RGD:1350214	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2W | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2w	PMID:25741868|PMID:28492532
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:0110828	Usher syndrome type 3		ISO	RGD:1350214	D	RGD:8554872	20210810	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 3	PMID:28492532
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:0110842	Usher syndrome type 3B		ISO	RGD:1350214	D	RGD:7240710	20140903	OMIM			
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:0110842	Usher syndrome type 3B		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIB | ClinVar Annotator: match by term: Usher syndrome type 3B | ClinVar Annotator: match by term: Usher syndrome, type 3B	PMID:16199547|PMID:17576681|PMID:22930593|PMID:24033266|PMID:24354524|PMID:25640679|PMID:25741868|PMID:26072516|PMID:26752306|PMID:28492532|PMID:28708278|PMID:29235198|PMID:31211171|PMID:32333447|PMID:32543048|PMID:32940403|PMID:33144514|PMID:34813128|PMID:38374194|PMID:38968664|PMID:41292655|PMID:9536098
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1350214	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:28492532|PMID:32333447
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:32333447|PMID:38374194
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1350214	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868|PMID:28492532
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:10907	microcephaly		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32333447|PMID:38374194|PMID:41292655|PMID:9536098
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:1115	sarcoma		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:11720	distal myopathy		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:25741868|PMID:28492532|PMID:32333447|PMID:38374194
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:1324	lung cancer		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:417	autoimmune disease		ISO	RGD:1350214	D	RGD:11554173	20230606	CTD		CTD Direct Evidence: marker/mechanism	PMID:23256773
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1350214	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:5214	demyelinating polyneuropathy		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Demyelinating peripheral neuropathy	PMID:25741868
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:540	strabismus		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:41292655|PMID:9536098
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:850	lung disease		ISO	RGD:1350214	D	RGD:11554173	20230606	CTD		CTD Direct Evidence: marker/mechanism	PMID:23256773
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1350214	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:870	neuropathy		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:28492532|PMID:32333447|PMID:38374194
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9000495	Tremor		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Action tremor | ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:28492532
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17576681|PMID:25741868|PMID:28492532|PMID:41292655|PMID:9536098
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28492532|PMID:32333447|PMID:38374194
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:28492532
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	PMID:25741868|PMID:28492532|PMID:32333447|PMID:38374194
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532|PMID:32333447|PMID:38374194
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32333447|PMID:38374194|PMID:41292655|PMID:9536098
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532|PMID:32333447|PMID:38374194
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17576681|PMID:25741868|PMID:28492532|PMID:41292655|PMID:9536098
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1350214	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Pes cavus	
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9009047	Laryngeal Cleft		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Laryngeal cleft	PMID:17576681|PMID:25741868|PMID:28492532|PMID:41292655|PMID:9536098
1310695	Hars1	histidyl-tRNA synthetase 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1350214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:41292655|PMID:9536098
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868|PMID:28285769|PMID:28492532
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:0080918	polymicrogyria		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:28285769|PMID:28492532
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321752	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:17576681|PMID:28285769|PMID:28492532|PMID:9536098
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:10584	retinitis pigmentosa		ISS	RGD:1321753	D	RGD:13592920	20190822	MouseDO			
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:1059	intellectual disability		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28285769|PMID:28492532
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:12849	autistic disorder		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28285769|PMID:28492532
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:1324	lung cancer		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:1657	ventricular septal defect		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28285769|PMID:28492532
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:1909	melanoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:2394	ovarian cancer		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:3275	thymoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:5041	esophageal cancer		ISO	RGD:1321752	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:28492532|PMID:9536098
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:5723	optic atrophy		ISO	RGD:1321752	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:630	genetic disease		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:8466	retinal degeneration		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal degeneration	PMID:25741868
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321752	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28285769|PMID:28492532
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9002644	Premature Aging		ISO	RGD:1321752	D	RGD:626167418|PMID:31466081	20250826	RGD		associated with alcohol use disorder; DNA:SNP: :rs10043634	
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9006431	Metaphyseal Chondrodysplasia with Retinitis Pigmentosa		ISO	RGD:1321752	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9006431	Metaphyseal Chondrodysplasia with Retinitis Pigmentosa		ISO	RGD:1321752	D	RGD:7240710	20190315	OMIM			
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9006431	Metaphyseal Chondrodysplasia with Retinitis Pigmentosa		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CWC27-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa with or without skeletal anomalies	PMID:25741868|PMID:28492532
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9007661	Dwarfism		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28285769|PMID:28492532
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310697	Cwc27	CWC27 spliceosome associated cyclophilin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1310698	Kazald1	Kazal-type serine peptidase inhibitor domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310698	Kazald1	Kazal-type serine peptidase inhibitor domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310698	Kazald1	Kazal-type serine peptidase inhibitor domain 1	gene	DOID:3275	thymoma		ISO	RGD:1321754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310698	Kazald1	Kazal-type serine peptidase inhibitor domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:0080600	COVID-19		ISO	RGD:1321756	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:0081003	Cowden syndrome 7		ISO	RGD:1321756	D	RGD:7240710	20190315	OMIM			
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:0081003	Cowden syndrome 7		ISO	RGD:1321756	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cowden syndrome 7 | ClinVar Annotator: match by term: SEC23B-related condition	PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:20941788|PMID:21252497|PMID:21850656|PMID:22208203|PMID:23935019|PMID:25044164|PMID:25741868|PMID:26522472|PMID:28492532|PMID:31593005|PMID:32641076|PMID:34093240|PMID:34954140|PMID:37373084
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:0111401	congenital dyserythropoietic anemia type II		ISO	RGD:1321756	D	RGD:7240710	20191009	OMIM			
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:0111401	congenital dyserythropoietic anemia type II		ISO	RGD:1321756	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE	PMID:16199547|PMID:17576681|PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:20941788|PMID:21252497|PMID:21850656|PMID:22208203|PMID:23453696|PMID:23935019|PMID:24724984|PMID:25044164|PMID:25741868|PMID:26522472|PMID:27471141|PMID:28492532|PMID:29031773|PMID:29901818|PMID:32581362|PMID:32641076|PMID:33159567|PMID:34093240|PMID:34954140|PMID:35820731|PMID:37373084|PMID:37946251|PMID:9536098
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:10534	stomach cancer		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:1115	sarcoma		ISO	RGD:1321756	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:1324	lung cancer		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1321756	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19561605
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital dyserythropoietic anemia	PMID:19561605|PMID:24033266|PMID:25044164|PMID:28492532
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:1909	melanoma		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:3081	cystic lymphangioma		ISO	RGD:1321756	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:21252497|PMID:21850656|PMID:22208203|PMID:23935019|PMID:25044164|PMID:25741868|PMID:28492532|PMID:32641076|PMID:34093240|PMID:34954140|PMID:37373084
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:3275	thymoma		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:5041	esophageal cancer		ISO	RGD:1321756	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:630	genetic disease		ISO	RGD:1321756	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:9000197	Edema		ISO	RGD:1321756	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Edema	PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:21252497|PMID:21850656|PMID:22208203|PMID:23935019|PMID:25044164|PMID:25741868|PMID:28492532|PMID:32641076|PMID:34093240|PMID:34954140|PMID:37373084
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:1321756	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:21252497|PMID:21850656|PMID:22208203|PMID:23935019|PMID:25044164|PMID:25741868|PMID:28492532|PMID:32641076|PMID:34093240|PMID:34954140|PMID:37373084
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1321756	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:21252497|PMID:21850656|PMID:22208203|PMID:23935019|PMID:25044164|PMID:25741868|PMID:28492532|PMID:32641076|PMID:34093240|PMID:34954140|PMID:37373084
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:9006095	Ascites		ISO	RGD:1321756	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:21252497|PMID:21850656|PMID:22208203|PMID:23935019|PMID:25044164|PMID:25741868|PMID:28492532|PMID:32641076|PMID:34093240|PMID:34954140|PMID:37373084
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:1321756	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:21252497|PMID:21850656|PMID:22208203|PMID:23935019|PMID:25044164|PMID:25741868|PMID:28492532|PMID:32641076|PMID:34093240|PMID:34954140|PMID:37373084
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:26522472|PMID:34365611
1310699	Sec23b	SEC23 B, COPII component	gene	DOID:9565	dextrocardia		ISO	RGD:1321756	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dextrocardia	PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:21252497|PMID:21850656|PMID:22208203|PMID:23935019|PMID:25044164|PMID:25741868|PMID:28492532|PMID:32641076|PMID:34093240|PMID:34954140|PMID:37373084
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0050570	congenital disorder of glycosylation type I		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation type I	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0060046	aphasia		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysphasia	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0060249	scoliosis		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0070297	primary microcephaly		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome	PMID:25741868
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0080563	congenital disorder of glycosylation Ik		ISO	RGD:1321758	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0080563	congenital disorder of glycosylation Ik		ISO	RGD:1321758	D	RGD:7240710	20130221	OMIM			
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:0080563	congenital disorder of glycosylation Ik		ISO	RGD:1321758	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALG1-related condition | ClinVar Annotator: match by term: CDG Ik | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K	PMID:14709599|PMID:14973782|PMID:16199547|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24033266|PMID:25741868|PMID:25954003|PMID:26453362|PMID:26931382|PMID:27618451|PMID:27670784|PMID:28490743|PMID:28492532|PMID:28554332|PMID:29449963|PMID:32190976|PMID:32573669|PMID:34567092|PMID:37204045|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:10907	microcephaly		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:12143	neurogenic bladder		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:12215	oligohydramnios		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:2234	focal epilepsy		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1321758	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1321758	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation	PMID:14709599|PMID:16199547|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25741868|PMID:26453362|PMID:26931382|PMID:27172925|PMID:28492532|PMID:28554332|PMID:30653653|PMID:32064623|PMID:32190976|PMID:34020146|PMID:34567092|PMID:35279850|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1321758	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation	PMID:14709599|PMID:16199547|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25741868|PMID:26430078|PMID:26453362|PMID:26931382|PMID:27172925|PMID:28492532|PMID:28554332|PMID:29449963|PMID:30653653|PMID:32064623|PMID:32190976|PMID:32573669|PMID:33176815|PMID:34020146|PMID:34567092|PMID:35279850|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:535	sleep disorder		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:5723	optic atrophy		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:6039	uveal melanoma		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1321758	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9000343	Vision Disorders		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9001581	Constipation		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9002554	Tachycardia		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868|PMID:28492532
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:20679665|PMID:23806237|PMID:25741868|PMID:28492532
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9007722	Myoclonus		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16199547|PMID:20679665|PMID:23806237|PMID:28492532
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:930	orbital disease		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310700	Alg1	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	gene	DOID:936	brain disease		ISO	RGD:1321758	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:38736633|PMID:9536098
1310701	Kdm1b	lysine demethylase 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310701	Kdm1b	lysine demethylase 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310701	Kdm1b	lysine demethylase 1B	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1321760	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1310701	Kdm1b	lysine demethylase 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310701	Kdm1b	lysine demethylase 1B	gene	DOID:1324	lung cancer		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310701	Kdm1b	lysine demethylase 1B	gene	DOID:1909	melanoma		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310701	Kdm1b	lysine demethylase 1B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310701	Kdm1b	lysine demethylase 1B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310701	Kdm1b	lysine demethylase 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310701	Kdm1b	lysine demethylase 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1321760	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310701	Kdm1b	lysine demethylase 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310701	Kdm1b	lysine demethylase 1B	gene	DOID:768	retinoblastoma		ISO	RGD:1321760	D	RGD:9588276|PMID:16180235	20141023	RGD		mRNA:increased expression:retina (human)	
1310701	Kdm1b	lysine demethylase 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310702	Spag1	sperm associated antigen 1	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kartagener syndrome	PMID:24055112
1310702	Spag1	sperm associated antigen 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310702	Spag1	sperm associated antigen 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310702	Spag1	sperm associated antigen 1	gene	DOID:0060686	autosomal dominant nocturnal frontal lobe epilepsy 5		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5	PMID:24055112|PMID:28492532
1310702	Spag1	sperm associated antigen 1	gene	DOID:0110607	primary ciliary dyskinesia 28		ISO	RGD:1321762	D	RGD:7240710	20140911	OMIM			
1310702	Spag1	sperm associated antigen 1	gene	DOID:0110607	primary ciliary dyskinesia 28		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 28 | ClinVar Annotator: match by term: Primary ciliary dyskinesia 28	PMID:16199547|PMID:17576681|PMID:24033266|PMID:24055112|PMID:25640679|PMID:25741868|PMID:26139845|PMID:27637300|PMID:28492532|PMID:30067075|PMID:30293640|PMID:35178554|PMID:9536098
1310702	Spag1	sperm associated antigen 1	gene	DOID:0111590	Cohen syndrome		ISO	RGD:126761945|RGD:12890452|RGD:405071895	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: VPS13B-related condition	PMID:25741868|PMID:28492532
1310702	Spag1	sperm associated antigen 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310702	Spag1	sperm associated antigen 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310702	Spag1	sperm associated antigen 1	gene	DOID:1115	sarcoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310702	Spag1	sperm associated antigen 1	gene	DOID:1324	lung cancer		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1310702	Spag1	sperm associated antigen 1	gene	DOID:1909	melanoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310702	Spag1	sperm associated antigen 1	gene	DOID:3275	thymoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1310702	Spag1	sperm associated antigen 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310702	Spag1	sperm associated antigen 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1310702	Spag1	sperm associated antigen 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321762	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1310702	Spag1	sperm associated antigen 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310702	Spag1	sperm associated antigen 1	gene	DOID:630	genetic disease		ISO	RGD:1321762	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310702	Spag1	sperm associated antigen 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310702	Spag1	sperm associated antigen 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310702	Spag1	sperm associated antigen 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310702	Spag1	sperm associated antigen 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310702	Spag1	sperm associated antigen 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1310702	Spag1	sperm associated antigen 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1321762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:24033266|PMID:25741868|PMID:28492532
1310703	Cbll1	Cbl proto-oncogene like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310703	Cbll1	Cbl proto-oncogene like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310703	Cbll1	Cbl proto-oncogene like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310703	Cbll1	Cbl proto-oncogene like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310703	Cbll1	Cbl proto-oncogene like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310703	Cbll1	Cbl proto-oncogene like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310703	Cbll1	Cbl proto-oncogene like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310705	Pwp1	PWP1 homolog, endonuclein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310705	Pwp1	PWP1 homolog, endonuclein	gene	DOID:1324	lung cancer		ISO	RGD:1605095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310705	Pwp1	PWP1 homolog, endonuclein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310705	Pwp1	PWP1 homolog, endonuclein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310705	Pwp1	PWP1 homolog, endonuclein	gene	DOID:4362	cervical cancer		ISO	RGD:1605095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310705	Pwp1	PWP1 homolog, endonuclein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310705	Pwp1	PWP1 homolog, endonuclein	gene	DOID:5041	esophageal cancer		ISO	RGD:1605095	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310705	Pwp1	PWP1 homolog, endonuclein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310705	Pwp1	PWP1 homolog, endonuclein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310705	Pwp1	PWP1 homolog, endonuclein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310705	Pwp1	PWP1 homolog, endonuclein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310706	Cic	capicua transcriptional repressor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1310706	Cic	capicua transcriptional repressor	gene	DOID:0050562	West syndrome		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310706	Cic	capicua transcriptional repressor	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
1310706	Cic	capicua transcriptional repressor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321769	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:28288114
1310706	Cic	capicua transcriptional repressor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:35165976
1310706	Cic	capicua transcriptional repressor	gene	DOID:0060260	ptosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
1310706	Cic	capicua transcriptional repressor	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1321769	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability	
1310706	Cic	capicua transcriptional repressor	gene	DOID:0060320	inguinal hernia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	
1310706	Cic	capicua transcriptional repressor	gene	DOID:0060321	umbilical hernia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	
1310706	Cic	capicua transcriptional repressor	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma	
1310706	Cic	capicua transcriptional repressor	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:1321769	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 1	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:0070309	absence epilepsy		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:0080236	autosomal dominant intellectual developmental disorder 45		ISO	RGD:1321769	D	RGD:7240710	20190315	OMIM			
1310706	Cic	capicua transcriptional repressor	gene	DOID:0080236	autosomal dominant intellectual developmental disorder 45		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CIC-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	PMID:25741868|PMID:28492532
1310706	Cic	capicua transcriptional repressor	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:21817013|PMID:22072542|PMID:22588899|PMID:26017892|PMID:27993330|PMID:28278156
1310706	Cic	capicua transcriptional repressor	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:10534	stomach cancer		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310706	Cic	capicua transcriptional repressor	gene	DOID:1059	intellectual disability		ISO	RGD:1321769	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:21076407|PMID:28288114
1310706	Cic	capicua transcriptional repressor	gene	DOID:1059	intellectual disability		ISO	RGD:1321769	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:1059	intellectual disability		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28288114
1310706	Cic	capicua transcriptional repressor	gene	DOID:10907	microcephaly		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1310706	Cic	capicua transcriptional repressor	gene	DOID:10908	hydrocephalus		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1321769	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:28288114
1310706	Cic	capicua transcriptional repressor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310706	Cic	capicua transcriptional repressor	gene	DOID:11111	hydronephrosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	
1310706	Cic	capicua transcriptional repressor	gene	DOID:1115	sarcoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310706	Cic	capicua transcriptional repressor	gene	DOID:11383	cryptorchidism		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1310706	Cic	capicua transcriptional repressor	gene	DOID:1227	neutropenia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	
1310706	Cic	capicua transcriptional repressor	gene	DOID:12849	autistic disorder		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28288114
1310706	Cic	capicua transcriptional repressor	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:21817013|PMID:22072542|PMID:22588899|PMID:26017892|PMID:27993330|PMID:28278156|PMID:29844126|PMID:31323153|PMID:32978089|PMID:35101336
1310706	Cic	capicua transcriptional repressor	gene	DOID:150	disease of mental health		ISS	RGD:1321770	D	RGD:13592920	20190214	MouseDO			
1310706	Cic	capicua transcriptional repressor	gene	DOID:1697	ichthyosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	
1310706	Cic	capicua transcriptional repressor	gene	DOID:1826	epilepsy		ISO	RGD:1321769	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	
1310706	Cic	capicua transcriptional repressor	gene	DOID:1826	epilepsy		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28288114|PMID:35165976
1310706	Cic	capicua transcriptional repressor	gene	DOID:1827	generalized epilepsy		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1310706	Cic	capicua transcriptional repressor	gene	DOID:1909	melanoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310706	Cic	capicua transcriptional repressor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310706	Cic	capicua transcriptional repressor	gene	DOID:2712	phimosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phimosis	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:2841	asthma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1310706	Cic	capicua transcriptional repressor	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
1310706	Cic	capicua transcriptional repressor	gene	DOID:3070	high grade glioma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310706	Cic	capicua transcriptional repressor	gene	DOID:3181	oligodendroglioma		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligodendroglioma	PMID:21817013|PMID:22072542|PMID:22588899|PMID:26017892|PMID:27993330|PMID:28278156|PMID:29844126|PMID:31323153|PMID:32978089|PMID:35101336|PMID:35561840
1310706	Cic	capicua transcriptional repressor	gene	DOID:3275	thymoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310706	Cic	capicua transcriptional repressor	gene	DOID:3310	atopic dermatitis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
1310706	Cic	capicua transcriptional repressor	gene	DOID:4362	cervical cancer		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310706	Cic	capicua transcriptional repressor	gene	DOID:5041	esophageal cancer		ISO	RGD:1321769	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310706	Cic	capicua transcriptional repressor	gene	DOID:540	strabismus		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310706	Cic	capicua transcriptional repressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310706	Cic	capicua transcriptional repressor	gene	DOID:630	genetic disease		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34906502
1310706	Cic	capicua transcriptional repressor	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
1310706	Cic	capicua transcriptional repressor	gene	DOID:7154	anaplastic oligodendroglioma		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anaplastic oligodendroglioma	PMID:21817013|PMID:22072542|PMID:22588899|PMID:26017892|PMID:27993330|PMID:28278156|PMID:29844126|PMID:31323153|PMID:32978089|PMID:35101336
1310706	Cic	capicua transcriptional repressor	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto thyroiditis	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9000211	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:9000343	Vision Disorders		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1321769	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:27869830
1310706	Cic	capicua transcriptional repressor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1321769	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337722
1310706	Cic	capicua transcriptional repressor	gene	DOID:9002569	Overweight		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:9002916	Hyperphagia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9003132	Sialorrhea		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:9003507	Premature Birth		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9003816	Macrocephaly		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:9004108	Fused Kidney		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321769	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:9004521	Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9004865	Nuchal Cord		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nuchal cord	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Decreased muscle tone | ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:35165976
1310706	Cic	capicua transcriptional repressor	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1310706	Cic	capicua transcriptional repressor	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9007559	Thyroglossal Cyst		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroglossal cyst	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9007573	Flatfoot		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9007661	Dwarfism		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28288114
1310706	Cic	capicua transcriptional repressor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28288114
1310706	Cic	capicua transcriptional repressor	gene	DOID:9008350	NATURAL KILLER CELL ENTEROPATHY		ISO	RGD:1321769	D	RGD:8554872	20200121	ClinVar		ClinVar Annotator: match by term: Natural killer cell enteropathy	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310706	Cic	capicua transcriptional repressor	gene	DOID:93	language disorder		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	
1310706	Cic	capicua transcriptional repressor	gene	DOID:9970	obesity		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:0060058	lymphoma		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:0060744	Pendred syndrome		ISO	RGD:1321771	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Pendred syndrome	PMID:30311386
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:0110535	autosomal recessive nonsyndromic deafness 9		ISO	RGD:1321771	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:0110541	autosomal dominant nonsyndromic deafness 1		ISO	RGD:1321771	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:0110541	autosomal dominant nonsyndromic deafness 1		ISO	RGD:1321771	D	RGD:7240710	20130221	OMIM			
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:0110541	autosomal dominant nonsyndromic deafness 1		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: DIAPH1-related condition | ClinVar Annotator: match by term: KONIGSMARK SYNDROME	PMID:16199547|PMID:17576681|PMID:22938506|PMID:23804846|PMID:24033266|PMID:24781755|PMID:25741868|PMID:26011067|PMID:26463574|PMID:26467025|PMID:28492532|PMID:33057194|PMID:34125151|PMID:34515852|PMID:9360932|PMID:9536098
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:10003	sensorineural hearing loss	susceptibility	ISO	RGD:1321771	D	RGD:1601058|PMID:9360932	20070404	RGD		autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutation	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:1059	intellectual disability		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:10907	microcephaly		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:34515852
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:1115	sarcoma		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:1143	exotropia		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:11830	myopia		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:12849	autistic disorder		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:1324	lung cancer		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:14264	benign neonatal seizures		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:25741868
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:1826	epilepsy		ISO	RGD:1321771	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Seizure Disorders	PMID:24781755|PMID:25558065|PMID:25741868|PMID:25741916
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:1826	epilepsy		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:1909	melanoma		ISO	RGD:1321771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:3275	thymoma		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:3488	cellulitis		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cellulitis	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321771	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:614	lymphopenia		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphopenia	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:630	genetic disease		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532|PMID:33057194
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:718	autoimmune hemolytic anemia		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune hemolytic anemia	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:8725	vascular dementia		ISO	RGD:1321771	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:28492532|PMID:35307828
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9002594	High Hyperopia		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperopia, high	PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:28492532|PMID:30311386|PMID:32581362
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9005489	Seizures, Cortical Blindness, and Microcephaly Syndrome		ISO	RGD:1321771	D	RGD:7240710	20151209	OMIM			
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9005489	Seizures, Cortical Blindness, and Microcephaly Syndrome		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME | ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome	PMID:16199547|PMID:17576681|PMID:23804846|PMID:24033266|PMID:24781755|PMID:25741868|PMID:26011067|PMID:26463574|PMID:26467025|PMID:28492532|PMID:30311386|PMID:33057194|PMID:34125151|PMID:34515852|PMID:9536098
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9007736	Vertigo		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9008681	Deafness		ISO	RGD:1321771	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:24781755|PMID:25741868|PMID:26463574|PMID:28492532|PMID:36212620
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1321771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:936	brain disease		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9649	congenital nystagmus		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:28492532
1310707	Diaph1	diaphanous-related formin 1	gene	DOID:9834	hyperopia		ISO	RGD:1321771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1310708	Fndc8	fibronectin type III domain containing 8	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603304	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4	
1310710	Ccdc77	coiled-coil domain containing 77	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310710	Ccdc77	coiled-coil domain containing 77	gene	DOID:10534	stomach cancer		ISO	RGD:1601842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310710	Ccdc77	coiled-coil domain containing 77	gene	DOID:1115	sarcoma		ISO	RGD:1601842	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310710	Ccdc77	coiled-coil domain containing 77	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310710	Ccdc77	coiled-coil domain containing 77	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601842	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310710	Ccdc77	coiled-coil domain containing 77	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310710	Ccdc77	coiled-coil domain containing 77	gene	DOID:5041	esophageal cancer		ISO	RGD:1601842	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310710	Ccdc77	coiled-coil domain containing 77	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310710	Ccdc77	coiled-coil domain containing 77	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310710	Ccdc77	coiled-coil domain containing 77	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:1115	sarcoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:1324	lung cancer		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:1909	melanoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:3275	thymoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1321777	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310711	Acap3	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:10534	stomach cancer		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:1115	sarcoma		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1345109	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:1324	lung cancer		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:2841	asthma		ISO	RGD:1345109	D	RGD:645233581|PMID:31812328	20260428	RGD		DNA:SNPs: :rs7927894, rs7936070	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1345109	D	RGD:629118413|PMID:33213402	20251211	RGD		DNA:SNPS, haplotype: :rs1892953, rs2508746, rs12278256	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:3310	atopic dermatitis		ISO	RGD:1345109	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23042114
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1345109	D	RGD:645135185|PMID:28824300	20260424	RGD		mRNA:increased expression:lung	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:4362	cervical cancer		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:4481	allergic rhinitis	severity	ISO	RGD:1345109	D	RGD:631734351|PMID:30170133	20260127	RGD		DNA:SNP: :rs7130588	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:4481	allergic rhinitis	susceptibility	ISO	RGD:1345109	D	RGD:631734351|PMID:30170133	20260127	RGD		DNA:SNPs, haplotype: :rs7130588, rs2155219, rs7927894	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:5041	esophageal cancer		ISO	RGD:1345109	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1345109	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1345109	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19636701
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310712	Emsy	EMSY transcriptional repressor, BRCA2 interacting	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310713	Larp4b	La ribonucleoprotein 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310713	Larp4b	La ribonucleoprotein 4B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310713	Larp4b	La ribonucleoprotein 4B	gene	DOID:1115	sarcoma		ISO	RGD:1321780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310713	Larp4b	La ribonucleoprotein 4B	gene	DOID:1909	melanoma		ISO	RGD:1321780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310713	Larp4b	La ribonucleoprotein 4B	gene	DOID:2661	myoepithelioma		ISO	RGD:1321780	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1310713	Larp4b	La ribonucleoprotein 4B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310713	Larp4b	La ribonucleoprotein 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1321780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310713	Larp4b	La ribonucleoprotein 4B	gene	DOID:5041	esophageal cancer		ISO	RGD:1321780	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310713	Larp4b	La ribonucleoprotein 4B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310713	Larp4b	La ribonucleoprotein 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310713	Larp4b	La ribonucleoprotein 4B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321780	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1310713	Larp4b	La ribonucleoprotein 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310713	Larp4b	La ribonucleoprotein 4B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310714	Cbx1	chromobox 1	gene	DOID:10283	prostate cancer		ISO	RGD:1321782	D	RGD:9586744|PMID:18436254	20141006	RGD		protein:increased expression:prostate:	
1310714	Cbx1	chromobox 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310714	Cbx1	chromobox 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310714	Cbx1	chromobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310714	Cbx1	chromobox 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321782	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
1310714	Cbx1	chromobox 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:37087635
1310714	Cbx1	chromobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310715	Sytl1	synaptotagmin-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310715	Sytl1	synaptotagmin-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310715	Sytl1	synaptotagmin-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310715	Sytl1	synaptotagmin-like 1	gene	DOID:1909	melanoma		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310715	Sytl1	synaptotagmin-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310715	Sytl1	synaptotagmin-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321784	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310715	Sytl1	synaptotagmin-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310715	Sytl1	synaptotagmin-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310715	Sytl1	synaptotagmin-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310716	Ccr10	C-C motif chemokine receptor 10	gene	DOID:1824	status epilepticus		ISO	RGD:1606584	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17181556
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: rod-cone dystrophy	PMID:18203199
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:0060058	lymphoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:0110127	Bardet-Biedl syndrome 5		ISO	RGD:1321789	D	RGD:7240710	20170301	OMIM			
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:0110127	Bardet-Biedl syndrome 5		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 5 | ClinVar Annotator: match by term: BBS5-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 5	PMID:11342895|PMID:15137946|PMID:16199547|PMID:16877420|PMID:17576681|PMID:18203199|PMID:19367329|PMID:21052717|PMID:21209035|PMID:22626039|PMID:22773737|PMID:24400638|PMID:25525159|PMID:25741868|PMID:26325687|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606|PMID:30614526|PMID:30718709|PMID:31456290|PMID:31760295|PMID:31964843|PMID:32451492|PMID:32641690|PMID:33572860|PMID:35835773|PMID:38219857|PMID:38576124|PMID:9536098
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:0110127	Bardet-Biedl syndrome 5		ISS	RGD:1553562	D	RGD:13592920	20230718	MouseDO		OMIM:615983	
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15137946|PMID:25741868|PMID:26325687|PMID:28041643|PMID:29806606
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:1115	sarcoma		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1321789	D	RGD:1579974|PMID:15137946	19990101	RGD		DNA:insertion/deletion, nonsense mutation: :263_271delinsGCTCTTA, p.W59X (human)	
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:15137946|PMID:16199547|PMID:16877420|PMID:17576681|PMID:19797195|PMID:21209035|PMID:21344540|PMID:22773737|PMID:24400638|PMID:24559376|PMID:25640679|PMID:25741868|PMID:25982971|PMID:26325687|PMID:26355662|PMID:26766544|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606|PMID:30029678|PMID:30614526|PMID:32451492|PMID:32531858|PMID:32811249|PMID:35835773|PMID:36066546|PMID:37240074|PMID:37293956|PMID:37431782|PMID:37510321|PMID:9536098
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:3275	thymoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:4362	cervical cancer		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1321789	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:5679	retinal disease		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:28492532
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:630	genetic disease		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:25741868|PMID:28041643|PMID:28492532|PMID:9536098
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19797195|PMID:25741868|PMID:25982971|PMID:28492532
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310718	Bbs5	Bardet-Biedl syndrome 5	gene	DOID:9351	diabetes mellitus		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Syndromic Monogenic Diabetes	PMID:25741868
1310719	Xkr6	XK related 6	gene	DOID:1909	melanoma		ISO	RGD:1321790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310719	Xkr6	XK related 6	gene	DOID:4362	cervical cancer		ISO	RGD:1321790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310721	Dusp16	dual specificity phosphatase 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310721	Dusp16	dual specificity phosphatase 16	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:7775014|PMID:23280045	20131230	RGD		protein:increased expression, altered localization:hippocampus, cytosol, nucleus	
1310721	Dusp16	dual specificity phosphatase 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310721	Dusp16	dual specificity phosphatase 16	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310721	Dusp16	dual specificity phosphatase 16	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310721	Dusp16	dual specificity phosphatase 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1321793	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310721	Dusp16	dual specificity phosphatase 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310721	Dusp16	dual specificity phosphatase 16	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310721	Dusp16	dual specificity phosphatase 16	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1321793	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310721	Dusp16	dual specificity phosphatase 16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321793	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310722	Ubn2	ubinuclein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310722	Ubn2	ubinuclein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310722	Ubn2	ubinuclein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:2302451	D	RGD:8554872	20191008	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:28263302
1310722	Ubn2	ubinuclein 2	gene	DOID:10534	stomach cancer		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310722	Ubn2	ubinuclein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310722	Ubn2	ubinuclein 2	gene	DOID:12849	autistic disorder		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1310722	Ubn2	ubinuclein 2	gene	DOID:1826	epilepsy		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1310722	Ubn2	ubinuclein 2	gene	DOID:3275	thymoma		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310722	Ubn2	ubinuclein 2	gene	DOID:4362	cervical cancer		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310722	Ubn2	ubinuclein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310722	Ubn2	ubinuclein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310722	Ubn2	ubinuclein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310722	Ubn2	ubinuclein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1310722	Ubn2	ubinuclein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310723	Dhx8	DEAH-box helicase 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310723	Dhx8	DEAH-box helicase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310723	Dhx8	DEAH-box helicase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310723	Dhx8	DEAH-box helicase 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310723	Dhx8	DEAH-box helicase 8	gene	DOID:1115	sarcoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310723	Dhx8	DEAH-box helicase 8	gene	DOID:1324	lung cancer		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310723	Dhx8	DEAH-box helicase 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310723	Dhx8	DEAH-box helicase 8	gene	DOID:3275	thymoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310723	Dhx8	DEAH-box helicase 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310723	Dhx8	DEAH-box helicase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310723	Dhx8	DEAH-box helicase 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310723	Dhx8	DEAH-box helicase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310723	Dhx8	DEAH-box helicase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310723	Dhx8	DEAH-box helicase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310724	Snrnp35	small nuclear ribonucleoprotein U11/U12 subunit 35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310725	Tmem176a	transmembrane protein 176A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310725	Tmem176a	transmembrane protein 176A	gene	DOID:10534	stomach cancer		ISO	RGD:1602320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310725	Tmem176a	transmembrane protein 176A	gene	DOID:1115	sarcoma		ISO	RGD:1602320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310725	Tmem176a	transmembrane protein 176A	gene	DOID:2843	long QT syndrome		ISO	RGD:1602320	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532
1310725	Tmem176a	transmembrane protein 176A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310725	Tmem176a	transmembrane protein 176A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310725	Tmem176a	transmembrane protein 176A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310725	Tmem176a	transmembrane protein 176A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310725	Tmem176a	transmembrane protein 176A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310726	Cep135	centrosomal protein 135	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310726	Cep135	centrosomal protein 135	gene	DOID:0070282	primary autosomal recessive microcephaly 8		ISO	RGD:1350849	D	RGD:7240710	20140911	OMIM			
1310726	Cep135	centrosomal protein 135	gene	DOID:0070282	primary autosomal recessive microcephaly 8		ISO	RGD:1350849	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CEP135-related condition | ClinVar Annotator: match by term: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive	PMID:18414213|PMID:22521416|PMID:25741868|PMID:26657937|PMID:28492532|PMID:30214071|PMID:31696992|PMID:32643282|PMID:33889545
1310726	Cep135	centrosomal protein 135	gene	DOID:0110535	autosomal recessive nonsyndromic deafness 9		ISO	RGD:1350849	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder	
1310726	Cep135	centrosomal protein 135	gene	DOID:10534	stomach cancer		ISO	RGD:1350849	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310726	Cep135	centrosomal protein 135	gene	DOID:1324	lung cancer		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310726	Cep135	centrosomal protein 135	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310726	Cep135	centrosomal protein 135	gene	DOID:3275	thymoma		ISO	RGD:1350849	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310726	Cep135	centrosomal protein 135	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310726	Cep135	centrosomal protein 135	gene	DOID:4362	cervical cancer		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310726	Cep135	centrosomal protein 135	gene	DOID:5041	esophageal cancer		ISO	RGD:1350849	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310726	Cep135	centrosomal protein 135	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310726	Cep135	centrosomal protein 135	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310726	Cep135	centrosomal protein 135	gene	DOID:630	genetic disease		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22521416|PMID:25741868|PMID:26657937|PMID:28492532|PMID:32677750
1310726	Cep135	centrosomal protein 135	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310726	Cep135	centrosomal protein 135	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:22521416|PMID:26657937|PMID:28492532
1310726	Cep135	centrosomal protein 135	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310727	Fam219b	family with sequence similarity 219, member B	gene	DOID:10534	stomach cancer		ISO	RGD:1321800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310727	Fam219b	family with sequence similarity 219, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310733	Mlph	melanophilin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310733	Mlph	melanophilin	gene	DOID:0060834	Griscelli syndrome type 3		ISO	RGD:1321808	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310733	Mlph	melanophilin	gene	DOID:0060834	Griscelli syndrome type 3		ISO	RGD:1321808	D	RGD:7240710	20130221	OMIM			
1310733	Mlph	melanophilin	gene	DOID:0060834	Griscelli syndrome type 3		ISO	RGD:1321808	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GRISCELLI SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: MLPH-related condition	PMID:22711375|PMID:25741868|PMID:28492532|PMID:32864751
1310733	Mlph	melanophilin	gene	DOID:10534	stomach cancer		ISO	RGD:1321808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1310733	Mlph	melanophilin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310733	Mlph	melanophilin	gene	DOID:1115	sarcoma		ISO	RGD:1321808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310733	Mlph	melanophilin	gene	DOID:1324	lung cancer		ISO	RGD:1321808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310733	Mlph	melanophilin	gene	DOID:1909	melanoma		ISO	RGD:1321808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310733	Mlph	melanophilin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1310733	Mlph	melanophilin	gene	DOID:3275	thymoma		ISO	RGD:1321808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310733	Mlph	melanophilin	gene	DOID:4362	cervical cancer		ISO	RGD:1321808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310733	Mlph	melanophilin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310733	Mlph	melanophilin	gene	DOID:5041	esophageal cancer		ISO	RGD:1321808	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310733	Mlph	melanophilin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310733	Mlph	melanophilin	gene	DOID:630	genetic disease		ISO	RGD:1321808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310733	Mlph	melanophilin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310733	Mlph	melanophilin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310733	Mlph	melanophilin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310733	Mlph	melanophilin	gene	DOID:987	alopecia		ISO	RGD:12374033	D	RGD:9068941	20250925	OMIA		Coat colour, dilution, MLPH-related	PMID:11887392|PMID:12358609|PMID:15016299|PMID:15958794|PMID:15960853|PMID:16131833|PMID:16674733|PMID:17519392|PMID:19436637|PMID:19521467|PMID:29349785|PMID:32531980|PMID:34088257|PMID:34751460|PMID:34861369|PMID:35510419|PMID:36427679|PMID:37582787|PMID:39449035|PMID:40965331|PMID:5019544|PMID:591423|PMID:7725619|PMID:8257319|PMID:8533225|PMID:8735542|PMID:9789677
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1321810	D	RGD:6482785|PMID:21698055	20120502	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:0050851	glomerulosclerosis		ISO	RGD:1321810	D	RGD:7248790|PMID:16213192	20130820	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:0051061	stroke		ISO	RGD:1321810	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21356620
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:0051061	stroke		ISO	RGD:1321810	D	RGD:6482786|PMID:19644070	20120502	RGD		protein:decreased expression:serum	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1321810	D	RGD:6482771|PMID:22112193	20120502	RGD		protein:increased expression:serum	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:0080379	nephrotic syndrome type 2	disease_progression	ISO	RGD:1321810	D	RGD:7248793|PMID:9853251	20130820	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:1184	nephrotic syndrome		IEP		D	RGD:7257517|PMID:8692015	20130821	RGD		protein:increased activity:plasma	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1321810	D	RGD:7248795|PMID:15292677	20130820	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:12554	hemolytic-uremic syndrome	severity	ISO	RGD:1321810	D	RGD:7257516|PMID:10873870	20130821	RGD		associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human)	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:13001	carotid stenosis	severity	ISO	RGD:1321810	D	RGD:6482772|PMID:22075154	20120502	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:1307	dementia		ISO	RGD:1321810	D	RGD:6482779|PMID:16278861	20120502	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:1936	atherosclerosis		ISO	RGD:1321810	D	RGD:7248796|PMID:12590019	20130820	RGD		associated with Diabetes Mellitus, type 2;DNA:missense mutation: :994G>T(human)	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:1936	atherosclerosis		ISO	RGD:1321811	D	RGD:6482784|PMID:21970837	20120502	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:2377	multiple sclerosis		ISO	RGD:1321810	D	RGD:6482783|PMID:22246459	20120502	RGD		protein:increased expression:plasma	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:2841	asthma		ISO	RGD:1321810	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10733466
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:2841	asthma		ISO	RGD:1321810	D	RGD:1581025|PMID:10733466	19990101	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:2921	glomerulonephritis		ISO	RGD:1321810	D	RGD:7248794|PMID:8730430	20130820	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:2986	IgA glomerulonephritis	disease_progression	ISO	RGD:1321810	D	RGD:7257515|PMID:12220450	20130821	RGD		DNA:polymorphism:exon:	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:3393	coronary artery disease	disease_progression	ISO	RGD:1321810	D	RGD:6482777|PMID:17070179	20120502	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1321810	D	RGD:6482781|PMID:15115767	20120502	RGD		DNA:polymorphism: :p.A379V (human)	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:3407	carotid artery disease	severity	ISO	RGD:1321810	D	RGD:6482769|PMID:22499993	20120502	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:3526	cerebral infarction		ISO	RGD:1321810	D	RGD:6482775|PMID:18201705	20120502	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:4362	cervical cancer		ISO	RGD:1321810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:576	proteinuria		ISO	RGD:1321810	D	RGD:7248792|PMID:10430976	20130820	RGD		DNA:mutation: :994G>T(human)	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:5844	myocardial infarction		ISO	RGD:1321810	D	RGD:6482786|PMID:19644070	20120502	RGD		protein:decreased expression:serum	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:6000	congestive heart failure		ISO	RGD:1321810	D	RGD:6482778|PMID:16952920	20120502	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1321810	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8675689
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1321810	D	RGD:6482776|PMID:17326817	20120502	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1321810	D	RGD:1581024|PMID:11807372	19990101	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:783	end stage renal disease		ISO	RGD:1321810	D	RGD:7248787|PMID:16421163	20130820	RGD		plasma:increased expression:plasma	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:9000204	Platelet-Activating Factor Acetylhydrolase Deficiency		ISO	RGD:1321810	D	RGD:11554173	20230627	CTD		CTD Direct Evidence: marker/mechanism	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:9000204	Platelet-Activating Factor Acetylhydrolase Deficiency		ISO	RGD:1321810	D	RGD:7240710	20231004	OMIM			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:9000204	Platelet-Activating Factor Acetylhydrolase Deficiency		ISO	RGD:1321810	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PLA2G7-related condition | ClinVar Annotator: match by term: PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY | ClinVar Annotator: match by term: Platelet-activating factor acetylhydrolase deficiency	PMID:10733466|PMID:25741868|PMID:28406212
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:9000528	Coronary Disease		ISO	RGD:1321810	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21356620
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:9000528	Coronary Disease		ISO	RGD:1321810	D	RGD:6482780|PMID:15699277	20120502	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:9001686	Acute Coronary Syndrome	disease_progression	ISO	RGD:1321810	D	RGD:6482773|PMID:22024276	20120502	RGD			
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:1321810	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10733466
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:9005372	Inflammation		ISO	RGD:1321810	D	RGD:6482774|PMID:19886071	20120502	RGD		associated with Cerebral Infarction;protein:increased expression:serum	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:9005930	Endotoxemia		IEP		D	RGD:7248791|PMID:10748027	20130820	RGD		protein:increased expression: :	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:9006332	Vascular Calcification		ISO	RGD:1321810	D	RGD:6482770|PMID:22340269	20120502	RGD		DNA:SNPs:cds, intron:multiple	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:9006646	Metabolic Syndrome		IEP		D	RGD:6482748|PMID:21172452	20120501	RGD		mRNA:increased expression:liver	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310734	Pla2g7	phospholipase A2 group VII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1321810	D	RGD:6482782|PMID:22399516	20120502	RGD			
1310735	Trmt10b	tRNA methyltransferase 10B	gene	DOID:10534	stomach cancer		ISO	RGD:1321812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310735	Trmt10b	tRNA methyltransferase 10B	gene	DOID:1909	melanoma		ISO	RGD:1321812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310735	Trmt10b	tRNA methyltransferase 10B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310735	Trmt10b	tRNA methyltransferase 10B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310735	Trmt10b	tRNA methyltransferase 10B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310735	Trmt10b	tRNA methyltransferase 10B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1314711	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myelodysplasia	PMID:21211618|PMID:21467542|PMID:24628296|PMID:25741868|PMID:26175287|PMID:28492532|PMID:28983057|PMID:30747248|PMID:31064749|PMID:35537115|PMID:35587581
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:10534	stomach cancer		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:1115	sarcoma		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:1247	blood coagulation disease		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868|PMID:28492532
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:1588	thrombocytopenia		ISO	RGD:1314711	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:21211618|PMID:21467542|PMID:24030261|PMID:24628296|PMID:25741868|PMID:26175287|PMID:28100250|PMID:28492532|PMID:28983057|PMID:29545013|PMID:30747248|PMID:31064749|PMID:32659145|PMID:35537115|PMID:35587581|PMID:36651276
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:1596	depressive disorder		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:1909	melanoma		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:2030	anxiety disorder		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:3275	thymoma		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:4362	cervical cancer		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:5041	esophageal cancer		ISO	RGD:1314711	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:630	genetic disease		ISO	RGD:1314711	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33057194|PMID:35982159
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:9003390	Thrombocytopenia 2		ISO	RGD:1314711	D	RGD:7240710	20131030	OMIM			
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:9003390	Thrombocytopenia 2		ISO	RGD:1314711	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANKRD26-related condition | ClinVar Annotator: match by term: Thrombocytopenia 2	PMID:17576681|PMID:21211618|PMID:21467542|PMID:24430186|PMID:24628296|PMID:25741868|PMID:26001113|PMID:26175287|PMID:27123948|PMID:28100250|PMID:28492532|PMID:28983057|PMID:30747248|PMID:31064749|PMID:31919106|PMID:34355501|PMID:35295078|PMID:35537115|PMID:35587581|PMID:35970915|PMID:9536098
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:9003390	Thrombocytopenia 2		ISO	RGD:1314711	D	RGD:9681743|PMID:21467542	20141205	RGD		DNA:mutations:5'utr:	
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:9006084	Gigantism		ISO	RGD:1558016	D	RGD:9681744|PMID:18162531	20141205	RGD			
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1558016	D	RGD:9681744|PMID:18162531	20141205	RGD			
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:9008421	Epistaxis		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:9834	hyperopia		ISO	RGD:1314711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:9970	obesity		ISO	RGD:1558016	D	RGD:9681744|PMID:18162531	20141205	RGD			
1310736	Ankrd26	ankyrin repeat domain 26	gene	DOID:9970	obesity		ISS	RGD:1558016	D	RGD:13592920	20180518	MouseDO		OMIM:601665	
1310737	Ndufb3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1321815	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: NADH:Q(1) OXIDOREDUCTASE DEFICIENCY	PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:27091925|PMID:28492532|PMID:31000363
1310737	Ndufb3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:0112067	nuclear type mitochondrial complex I deficiency 25		ISO	RGD:1321815	D	RGD:7240710	20190315	OMIM			
1310737	Ndufb3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:0112067	nuclear type mitochondrial complex I deficiency 25		ISO	RGD:1321815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 25	PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27091925|PMID:28492532|PMID:31000363
1310737	Ndufb3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1321815	D	RGD:13792588|PMID:28474567	20181106	RGD			
1310737	Ndufb3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:1826	epilepsy		ISO	RGD:1321815	D	RGD:8554872	20220104	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1310737	Ndufb3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310737	Ndufb3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310737	Ndufb3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:630	genetic disease		ISO	RGD:1321815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:27091925|PMID:28492532|PMID:31000363
1310737	Ndufb3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:9006253	Ketosis		ISO	RGD:1321815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ketoacidosis	
1310737	Ndufb3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310737	Ndufb3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310738	Rnf215	ring finger protein 215	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310738	Rnf215	ring finger protein 215	gene	DOID:1115	sarcoma		ISO	RGD:1606686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310738	Rnf215	ring finger protein 215	gene	DOID:1324	lung cancer		ISO	RGD:1606686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310738	Rnf215	ring finger protein 215	gene	DOID:3275	thymoma		ISO	RGD:1606686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310738	Rnf215	ring finger protein 215	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310738	Rnf215	ring finger protein 215	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310738	Rnf215	ring finger protein 215	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310739	Arhgdig	Rho GDP dissociation inhibitor gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310740	Lipg	lipase G, endothelial type	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310740	Lipg	lipase G, endothelial type	gene	DOID:10534	stomach cancer		ISO	RGD:1321819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310740	Lipg	lipase G, endothelial type	gene	DOID:10763	hypertension		IDA		D	RGD:1581875|PMID:15914124	20061028	RGD			
1310740	Lipg	lipase G, endothelial type	gene	DOID:1115	sarcoma		ISO	RGD:1321819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310740	Lipg	lipase G, endothelial type	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1321819	D	RGD:1580864|PMID:16023652	19990101	RGD			
1310740	Lipg	lipase G, endothelial type	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310740	Lipg	lipase G, endothelial type	gene	DOID:2349	arteriosclerosis		ISO	RGD:1321820	D	RGD:1581874|PMID:15304490	20061028	RGD			
1310740	Lipg	lipase G, endothelial type	gene	DOID:3393	coronary artery disease		ISO	RGD:1321819	D	RGD:1580865|PMID:16354105	20061028	RGD			
1310740	Lipg	lipase G, endothelial type	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:1321819	D	RGD:1601237|PMID:17016617	20070822	RGD		DNA:polymorphism: :584C>T (human)	
1310740	Lipg	lipase G, endothelial type	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1321819	D	RGD:1641818|PMID:17526978	20070822	RGD		DNA:polymorphism: :584C>T	
1310740	Lipg	lipase G, endothelial type	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310740	Lipg	lipase G, endothelial type	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1321819	D	RGD:1580865|PMID:16354105	19990101	RGD			
1310740	Lipg	lipase G, endothelial type	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310740	Lipg	lipase G, endothelial type	gene	DOID:9970	obesity		ISO	RGD:1321819	D	RGD:1641819|PMID:16772345	20070822	RGD		protein:increased expression:plasma	
1310741	Zswim5	zinc finger, SWIM-type containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310741	Zswim5	zinc finger, SWIM-type containing 5	gene	DOID:1909	melanoma		ISO	RGD:1321821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310741	Zswim5	zinc finger, SWIM-type containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1321821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310741	Zswim5	zinc finger, SWIM-type containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310741	Zswim5	zinc finger, SWIM-type containing 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310741	Zswim5	zinc finger, SWIM-type containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310741	Zswim5	zinc finger, SWIM-type containing 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1321821	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1310742	Dact2	dishevelled-binding antagonist of beta-catenin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310742	Dact2	dishevelled-binding antagonist of beta-catenin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310742	Dact2	dishevelled-binding antagonist of beta-catenin 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1321823	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030
1310743	Zfp618	zinc finger protein 618	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310743	Zfp618	zinc finger protein 618	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310743	Zfp618	zinc finger protein 618	gene	DOID:1115	sarcoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310743	Zfp618	zinc finger protein 618	gene	DOID:3275	thymoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310743	Zfp618	zinc finger protein 618	gene	DOID:4362	cervical cancer		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310743	Zfp618	zinc finger protein 618	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310743	Zfp618	zinc finger protein 618	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310743	Zfp618	zinc finger protein 618	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310743	Zfp618	zinc finger protein 618	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310743	Zfp618	zinc finger protein 618	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310743	Zfp618	zinc finger protein 618	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310743	Zfp618	zinc finger protein 618	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:0050840	cervical dystonia		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:0080238	autosomal dominant intellectual developmental disorder 47		ISO	RGD:1321827	D	RGD:7240710	20190315	OMIM			
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:0080238	autosomal dominant intellectual developmental disorder 47		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 47 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 47 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 47 | ClinVar Annotator: match by term: STAG1-related condition | ClinVar Annotator: match by term: STAG1-related disorder	PMID:25741868|PMID:25748820|PMID:28119487|PMID:28492532|PMID:30158690|PMID:33057194
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:10534	stomach cancer		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:1059	intellectual disability		ISO	RGD:1321827	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:1059	intellectual disability		ISO	RGD:1321827	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28119487
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:1115	sarcoma		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:11836	clubfoot		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:12849	autistic disorder		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:1324	lung cancer		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:1826	epilepsy		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:1827	generalized epilepsy		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:1909	melanoma		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:1969	cerebral palsy		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:2030	anxiety disorder		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:3275	thymoma		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:3459	breast carcinoma		ISO	RGD:1321827	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:28119487
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1321827	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian carcinoma	PMID:25741868|PMID:28119487
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:5041	esophageal cancer		ISO	RGD:1321827	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1321827	D	RGD:8554872	20190507	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:630	genetic disease		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:8927	learning disability		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9000053	Headache		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9003674	Chest Pain		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chest pain	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321827	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9005077	Joint Instability		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9006065	Arthralgia		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9007661	Dwarfism		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9007736	Vertigo		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9007923	Back Pain		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Back pain	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9008023	Memory Disorders		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25741896|PMID:28492532
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9008617	Lethargy		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	
1310744	Stag1	STAG1 cohesin complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310745	Zscan10	zinc finger and SCAN domain containing 10	gene	DOID:3275	thymoma		ISO	RGD:1321829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310745	Zscan10	zinc finger and SCAN domain containing 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1321829	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310745	Zscan10	zinc finger and SCAN domain containing 10	gene	DOID:9009059	OTOFACIAL NEURODEVELOPMENTAL SYNDROME		ISO	RGD:1321829	D	RGD:7240710	20240925	OMIM			
1310745	Zscan10	zinc finger and SCAN domain containing 10	gene	DOID:9009059	OTOFACIAL NEURODEVELOPMENTAL SYNDROME		ISO	RGD:1321829	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: OTOFACIAL NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Otofacial neurodevelopmental syndrome	PMID:25741868|PMID:38386308
1310746	Chchd4	coiled-coil-helix-coiled-coil-helix domain containing 4	gene	DOID:3650	lactic acidosis		ISO	RGD:1321831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	
1310746	Chchd4	coiled-coil-helix-coiled-coil-helix domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310746	Chchd4	coiled-coil-helix-coiled-coil-helix domain containing 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1310746	Chchd4	coiled-coil-helix-coiled-coil-helix domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310746	Chchd4	coiled-coil-helix-coiled-coil-helix domain containing 4	gene	DOID:936	brain disease		ISO	RGD:1321831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
1310746	Chchd4	coiled-coil-helix-coiled-coil-helix domain containing 4	gene	DOID:9993	hypoglycemia		ISO	RGD:1321831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:30824121
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:9005695	Malnutrition		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malnutrition	PMID:25741868|PMID:30824121
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:9006793	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME		ISO	RGD:1321833	D	RGD:7240710	20200805	OMIM			
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:9006793	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CARS1-related condition | ClinVar Annotator: match by term: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME | ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome	PMID:25741868|PMID:30824121
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:25741868|PMID:30824121
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310747	Cars1	cysteinyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321833	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310748	Hdac9	histone deacetylase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353912	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310748	Hdac9	histone deacetylase 9	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868
1310748	Hdac9	histone deacetylase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310748	Hdac9	histone deacetylase 9	gene	DOID:0051061	stroke		ISO	RGD:1353912	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22306652
1310748	Hdac9	histone deacetylase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310748	Hdac9	histone deacetylase 9	gene	DOID:1115	sarcoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310748	Hdac9	histone deacetylase 9	gene	DOID:1324	lung cancer		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310748	Hdac9	histone deacetylase 9	gene	DOID:1909	melanoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310748	Hdac9	histone deacetylase 9	gene	DOID:1936	atherosclerosis		ISO	RGD:1353912	D	RGD:11554173	20230606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36322813
1310748	Hdac9	histone deacetylase 9	gene	DOID:3070	high grade glioma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310748	Hdac9	histone deacetylase 9	gene	DOID:3275	thymoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310748	Hdac9	histone deacetylase 9	gene	DOID:3525	middle cerebral artery infarction		IEP		D	RGD:9681449|PMID:23480850	20141201	RGD		mRNA:increased expression:brain:	
1310748	Hdac9	histone deacetylase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310748	Hdac9	histone deacetylase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1353912	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310748	Hdac9	histone deacetylase 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310748	Hdac9	histone deacetylase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310748	Hdac9	histone deacetylase 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310748	Hdac9	histone deacetylase 9	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1353912	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
1310748	Hdac9	histone deacetylase 9	gene	DOID:9006579	Auriculocondylar Syndrome 4		ISO	RGD:1353912	D	RGD:7240710	20230802	OMIM			
1310748	Hdac9	histone deacetylase 9	gene	DOID:9006579	Auriculocondylar Syndrome 4		ISO	RGD:1353912	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Auriculocondylar syndrome 4	
1310748	Hdac9	histone deacetylase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310748	Hdac9	histone deacetylase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310748	Hdac9	histone deacetylase 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310749	Nfatc4	nuclear factor of activated T-cells 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310749	Nfatc4	nuclear factor of activated T-cells 4	gene	DOID:1115	sarcoma		ISO	RGD:1321836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310749	Nfatc4	nuclear factor of activated T-cells 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1321836	D	RGD:1580248|PMID:12939651	19990101	RGD		DNA:missense mutation:cds:p.G160A (human)	
1310749	Nfatc4	nuclear factor of activated T-cells 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310749	Nfatc4	nuclear factor of activated T-cells 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310749	Nfatc4	nuclear factor of activated T-cells 4	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1321836	D	RGD:1579956|PMID:9568714	19990101	RGD		human gene in a mouse model	
1310749	Nfatc4	nuclear factor of activated T-cells 4	gene	DOID:9005968	Neuralgia	treatment	IEP		D	RGD:329337338|PMID:23386250	20230427	RGD			
1310749	Nfatc4	nuclear factor of activated T-cells 4	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:1321836	D	RGD:1579956|PMID:9568714	19990101	RGD		human gene in a mouse model	
1310749	Nfatc4	nuclear factor of activated T-cells 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310749	Nfatc4	nuclear factor of activated T-cells 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321836	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: therapeutic	PMID:34192554
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:10283	prostate cancer		ISO	RGD:1321838	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:10283	prostate cancer		ISO	RGD:1321838	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:13620	patent foramen ovale		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:30450763
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:1909	melanoma		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:4977	lymphedema		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:30450763
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:5419	schizophrenia		ISO	RGD:1321838	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:630	genetic disease		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:30450763
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:8488	polyhydramnios		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:30450763
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:9000197	Edema		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	PMID:30450763
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:9001031	Retrognathia		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:30450763
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:30450763
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:9004748	Hennekam Lymphangiectasia-Lymphedema Syndrome 3		ISO	RGD:1321838	D	RGD:7240710	20190315	OMIM			
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:9004748	Hennekam Lymphangiectasia-Lymphedema Syndrome 3		ISO	RGD:1321838	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADAMTS3-related condition | ClinVar Annotator: match by term: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 | ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3	PMID:25741868|PMID:28492532|PMID:28985353|PMID:30450763
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:9006095	Ascites		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:30450763
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:30450763
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:30450763
1310750	Adamts3	ADAM metallopeptidase with thrombospondin type 1, motif 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310751	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1310751	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310751	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310751	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:1115	sarcoma		ISO	RGD:1321839	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310751	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310751	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310751	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310751	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1321839	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310751	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310751	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1310751	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1310751	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1310751	Agap3	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310753	Syndig1	synapse differentiation inducing 1	gene	DOID:1115	sarcoma		ISO	RGD:1321842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310753	Syndig1	synapse differentiation inducing 1	gene	DOID:1324	lung cancer		ISO	RGD:1321842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310753	Syndig1	synapse differentiation inducing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310753	Syndig1	synapse differentiation inducing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310753	Syndig1	synapse differentiation inducing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310753	Syndig1	synapse differentiation inducing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310755	Cxxc1	CXXC finger protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310755	Cxxc1	CXXC finger protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310755	Cxxc1	CXXC finger protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310755	Cxxc1	CXXC finger protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310755	Cxxc1	CXXC finger protein 1	gene	DOID:3275	thymoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310755	Cxxc1	CXXC finger protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310755	Cxxc1	CXXC finger protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310755	Cxxc1	CXXC finger protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321844	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310755	Cxxc1	CXXC finger protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310755	Cxxc1	CXXC finger protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310755	Cxxc1	CXXC finger protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310755	Cxxc1	CXXC finger protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310755	Cxxc1	CXXC finger protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310755	Cxxc1	CXXC finger protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310756	Zfp541	zinc finger protein 541	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310756	Zfp541	zinc finger protein 541	gene	DOID:1324	lung cancer		ISO	RGD:1321846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310756	Zfp541	zinc finger protein 541	gene	DOID:4362	cervical cancer		ISO	RGD:1321846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310756	Zfp541	zinc finger protein 541	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310756	Zfp541	zinc finger protein 541	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310757	Pus3	pseudouridine synthase 3	gene	DOID:9000355	Neurodevelopmental Disorder with Microcephaly and Gray Sclerae		ISO	RGD:1345902	D	RGD:7240710	20190315	OMIM			
1310758	Ifi30	IFI30, lysosomal thiol reductase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1321848	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:35654975
1310758	Ifi30	IFI30, lysosomal thiol reductase	gene	DOID:1115	sarcoma		ISO	RGD:1321848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310758	Ifi30	IFI30, lysosomal thiol reductase	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1321848	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17597826
1310758	Ifi30	IFI30, lysosomal thiol reductase	gene	DOID:4362	cervical cancer		ISO	RGD:1321848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310758	Ifi30	IFI30, lysosomal thiol reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310758	Ifi30	IFI30, lysosomal thiol reductase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310758	Ifi30	IFI30, lysosomal thiol reductase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321848	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
1310758	Ifi30	IFI30, lysosomal thiol reductase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310760	Asb1	ankyrin repeat and SOCS box-containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310760	Asb1	ankyrin repeat and SOCS box-containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321850	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310760	Asb1	ankyrin repeat and SOCS box-containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310760	Asb1	ankyrin repeat and SOCS box-containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1321850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310760	Asb1	ankyrin repeat and SOCS box-containing 1	gene	DOID:1909	melanoma		ISO	RGD:1321850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310760	Asb1	ankyrin repeat and SOCS box-containing 1	gene	DOID:3275	thymoma		ISO	RGD:1321850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310760	Asb1	ankyrin repeat and SOCS box-containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321850	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310760	Asb1	ankyrin repeat and SOCS box-containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310760	Asb1	ankyrin repeat and SOCS box-containing 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310761	Smg7	SMG7 nonsense mediated mRNA decay factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310761	Smg7	SMG7 nonsense mediated mRNA decay factor	gene	DOID:10534	stomach cancer		ISO	RGD:1321852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310761	Smg7	SMG7 nonsense mediated mRNA decay factor	gene	DOID:1324	lung cancer		ISO	RGD:1321852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310761	Smg7	SMG7 nonsense mediated mRNA decay factor	gene	DOID:1909	melanoma		ISO	RGD:1321852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310761	Smg7	SMG7 nonsense mediated mRNA decay factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310761	Smg7	SMG7 nonsense mediated mRNA decay factor	gene	DOID:3275	thymoma		ISO	RGD:1321852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310761	Smg7	SMG7 nonsense mediated mRNA decay factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310761	Smg7	SMG7 nonsense mediated mRNA decay factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310761	Smg7	SMG7 nonsense mediated mRNA decay factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1321852	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310761	Smg7	SMG7 nonsense mediated mRNA decay factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310761	Smg7	SMG7 nonsense mediated mRNA decay factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310761	Smg7	SMG7 nonsense mediated mRNA decay factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310761	Smg7	SMG7 nonsense mediated mRNA decay factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321852	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1310761	Smg7	SMG7 nonsense mediated mRNA decay factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310763	Endog	endonuclease G	gene	DOID:2316	brain ischemia		IEP		D	RGD:9685367|PMID:18568342	20150105	RGD			
1310763	Endog	endonuclease G	gene	DOID:6000	congestive heart failure		IEP		D	RGD:9685393|PMID:17292393	20150106	RGD		mRNa:decreased expression:heart:	
1310763	Endog	endonuclease G	gene	DOID:767	muscular atrophy		IEP		D	RGD:9685359|PMID:15650125	20150105	RGD			
1310763	Endog	endonuclease G	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:8655990|PMID:16689664	20150105	RGD			
1310763	Endog	endonuclease G	gene	DOID:9007090	Experimental Seizures		IEP		D	RGD:9685392|PMID:20077427	20150106	RGD			
1310763	Endog	endonuclease G	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		IEP		D	RGD:9685364|PMID:22509279	20150105	RGD		protein:decreased expression:mitochondrion:	
1310764	Gsto2	glutathione S-transferase omega 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310764	Gsto2	glutathione S-transferase omega 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310764	Gsto2	glutathione S-transferase omega 2	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:1321858	D	RGD:5490514|PMID:15917099	20110914	RGD		DNA:polymorphism:promoter: -183 A>G (rs2297235)(human)	
1310764	Gsto2	glutathione S-transferase omega 2	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:1321858	D	RGD:1358651|PMID:14570706	20110914	RGD		DDNA:polymorphism: : -183 A>G (rs2297235)(human)	
1310764	Gsto2	glutathione S-transferase omega 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321858	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22306368
1310764	Gsto2	glutathione S-transferase omega 2	gene	DOID:14330	Parkinson's disease	onset	ISO	RGD:1321858	D	RGD:1358651|PMID:14570706	20110914	RGD		DDNA:polymorphism: : -183 A>G (rs2297235)(human)	
1310764	Gsto2	glutathione S-transferase omega 2	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1321858	D	RGD:5490299|PMID:17194543	20110913	RGD		DNA:polymorphism: : -183 A>G (rs2297235)(human)	
1310764	Gsto2	glutathione S-transferase omega 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1321858	D	RGD:5490988|PMID:20374258	20110922	RGD		DNA:polymorphism:exon:p. N142D (human)	
1310764	Gsto2	glutathione S-transferase omega 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310764	Gsto2	glutathione S-transferase omega 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310765	Zfp688	zinc finger protein 688	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310765	Zfp688	zinc finger protein 688	gene	DOID:1324	lung cancer		ISO	RGD:1602068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310765	Zfp688	zinc finger protein 688	gene	DOID:3275	thymoma		ISO	RGD:1602068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310765	Zfp688	zinc finger protein 688	gene	DOID:5041	esophageal cancer		ISO	RGD:1602068	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310765	Zfp688	zinc finger protein 688	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310766	Yipf7	Yip1 domain family, member 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310766	Yipf7	Yip1 domain family, member 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310766	Yipf7	Yip1 domain family, member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321861	D	RGD:8554872	20171010	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa	PMID:28041643
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321861	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310767	Itprid2	ITPR interacting domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310768	Dsc1	desmocollin 1	gene	DOID:1909	melanoma		ISO	RGD:1321863	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22197931
1310768	Dsc1	desmocollin 1	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:1321863	D	RGD:6480655|PMID:21382035	20120329	RGD		mRNA:decreased expression:gingival tissues (human)	
1310769	Erg28	ergosterol biosynthesis 28 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1321865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310769	Erg28	ergosterol biosynthesis 28 homolog	gene	DOID:1909	melanoma		ISO	RGD:1321865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310769	Erg28	ergosterol biosynthesis 28 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310769	Erg28	ergosterol biosynthesis 28 homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310769	Erg28	ergosterol biosynthesis 28 homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310769	Erg28	ergosterol biosynthesis 28 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310769	Erg28	ergosterol biosynthesis 28 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1310770	Cachd1	cache domain containing 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1310770	Cachd1	cache domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310770	Cachd1	cache domain containing 1	gene	DOID:0070692	Davis-Wells syndrome		ISO	RGD:1605969	D	RGD:7240710	20260506	OMIM			
1310770	Cachd1	cache domain containing 1	gene	DOID:0070692	Davis-Wells syndrome		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DAVIS-WELLS SYNDROME	
1310770	Cachd1	cache domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310770	Cachd1	cache domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310770	Cachd1	cache domain containing 1	gene	DOID:11162	respiratory failure		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	
1310770	Cachd1	cache domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310770	Cachd1	cache domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310770	Cachd1	cache domain containing 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1310770	Cachd1	cache domain containing 1	gene	DOID:2841	asthma		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1310770	Cachd1	cache domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310770	Cachd1	cache domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310770	Cachd1	cache domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310770	Cachd1	cache domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605969	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310770	Cachd1	cache domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310770	Cachd1	cache domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1605969	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310770	Cachd1	cache domain containing 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1310770	Cachd1	cache domain containing 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310770	Cachd1	cache domain containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1310770	Cachd1	cache domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310770	Cachd1	cache domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1310771	Nrros	negative regulator of reactive oxygen species	gene	DOID:630	genetic disease		ISO	RGD:1602040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1310771	Nrros	negative regulator of reactive oxygen species	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602040	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310771	Nrros	negative regulator of reactive oxygen species	gene	DOID:9006016	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS		ISO	RGD:1602040	D	RGD:7240710	20200819	OMIM			
1310771	Nrros	negative regulator of reactive oxygen species	gene	DOID:9006016	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS		ISO	RGD:1602040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS | ClinVar Annotator: match by term: Seizures, early-onset, with neurodegeneration and brain calcifications	PMID:25741868|PMID:32197075
1310771	Nrros	negative regulator of reactive oxygen species	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1321869	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310772	Tgfbrap1	transforming growth factor, beta receptor associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310773	Lingo2	leucine rich repeat and Ig domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310773	Lingo2	leucine rich repeat and Ig domain containing 2	gene	DOID:11372	megacolon		ISO	RGD:1344562	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
1310773	Lingo2	leucine rich repeat and Ig domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310773	Lingo2	leucine rich repeat and Ig domain containing 2	gene	DOID:670	amphetamine abuse		ISO	RGD:1344562	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1310773	Lingo2	leucine rich repeat and Ig domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310773	Lingo2	leucine rich repeat and Ig domain containing 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1344562	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1310773	Lingo2	leucine rich repeat and Ig domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:0080427	developmental and epileptic encephalopathy 40		ISO	RGD:1602319	D	RGD:7240710	20190315	OMIM			
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:0080427	developmental and epileptic encephalopathy 40		ISO	RGD:1602319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 40 | ClinVar Annotator: match by term: GUF1-related condition	PMID:25741868|PMID:28492532|PMID:30945278
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:10534	stomach cancer		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:1115	sarcoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:1324	lung cancer		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:1909	melanoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:2843	long QT syndrome		ISO	RGD:1602319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:3070	high grade glioma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:4362	cervical cancer		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310774	Guf1	GTP binding elongation factor GUF1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1310775	Tmem9b	TMEM9 domain family, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310775	Tmem9b	TMEM9 domain family, member B	gene	DOID:10534	stomach cancer		ISO	RGD:1321873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310775	Tmem9b	TMEM9 domain family, member B	gene	DOID:1115	sarcoma		ISO	RGD:1321873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310775	Tmem9b	TMEM9 domain family, member B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310775	Tmem9b	TMEM9 domain family, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310776	Zfand5	zinc finger AN1-type containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310776	Zfand5	zinc finger AN1-type containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1349305	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310776	Zfand5	zinc finger AN1-type containing 5	gene	DOID:1909	melanoma		ISO	RGD:1349305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310776	Zfand5	zinc finger AN1-type containing 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1349305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310776	Zfand5	zinc finger AN1-type containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310776	Zfand5	zinc finger AN1-type containing 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1349305	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
1310776	Zfand5	zinc finger AN1-type containing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310778	Mis18a	MIS18 kinetochore protein A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310778	Mis18a	MIS18 kinetochore protein A	gene	DOID:1324	lung cancer		ISO	RGD:1321877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310778	Mis18a	MIS18 kinetochore protein A	gene	DOID:3275	thymoma		ISO	RGD:1321877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310778	Mis18a	MIS18 kinetochore protein A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310778	Mis18a	MIS18 kinetochore protein A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310780	Hoxb3	homeo box B3	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1310780	Hoxb3	homeo box B3	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1321880	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34652879
1310780	Hoxb3	homeo box B3	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:1321880	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18351244
1310780	Hoxb3	homeo box B3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310782	Ndufb10	NADH:ubiquinone oxidoreductase subunit B10	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1321883	D	RGD:8554872	20200609	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:25741868
1310782	Ndufb10	NADH:ubiquinone oxidoreductase subunit B10	gene	DOID:0112139	nuclear type mitochondrial complex I deficiency 35		ISO	RGD:1321883	D	RGD:7240710	20200930	OMIM			
1310782	Ndufb10	NADH:ubiquinone oxidoreductase subunit B10	gene	DOID:0112139	nuclear type mitochondrial complex I deficiency 35		ISO	RGD:1321883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NDUFB10-related condition	PMID:28492532
1310782	Ndufb10	NADH:ubiquinone oxidoreductase subunit B10	gene	DOID:1115	sarcoma		ISO	RGD:1321883	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310782	Ndufb10	NADH:ubiquinone oxidoreductase subunit B10	gene	DOID:1324	lung cancer		ISO	RGD:1321883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310782	Ndufb10	NADH:ubiquinone oxidoreductase subunit B10	gene	DOID:3275	thymoma		ISO	RGD:1321883	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310782	Ndufb10	NADH:ubiquinone oxidoreductase subunit B10	gene	DOID:5041	esophageal cancer		ISO	RGD:1321883	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310782	Ndufb10	NADH:ubiquinone oxidoreductase subunit B10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310783	Cnot6	CCR4-NOT transcription complex, subunit 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310783	Cnot6	CCR4-NOT transcription complex, subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310783	Cnot6	CCR4-NOT transcription complex, subunit 6	gene	DOID:10534	stomach cancer		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310783	Cnot6	CCR4-NOT transcription complex, subunit 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310783	Cnot6	CCR4-NOT transcription complex, subunit 6	gene	DOID:1115	sarcoma		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310783	Cnot6	CCR4-NOT transcription complex, subunit 6	gene	DOID:1324	lung cancer		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310783	Cnot6	CCR4-NOT transcription complex, subunit 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310783	Cnot6	CCR4-NOT transcription complex, subunit 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310783	Cnot6	CCR4-NOT transcription complex, subunit 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1347023	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310783	Cnot6	CCR4-NOT transcription complex, subunit 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310783	Cnot6	CCR4-NOT transcription complex, subunit 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310783	Cnot6	CCR4-NOT transcription complex, subunit 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310784	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310784	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:0080600	COVID-19		ISO	RGD:1321886	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310784	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310784	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310784	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310784	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310784	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310784	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321886	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310784	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310784	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310784	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321886	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310784	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310784	Ska1	spindle and kinetochore associated complex subunit 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1321886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310785	Abt1	activator of basal transcription 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310785	Abt1	activator of basal transcription 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310785	Abt1	activator of basal transcription 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1321888	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1310785	Abt1	activator of basal transcription 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1321888	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1310785	Abt1	activator of basal transcription 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310785	Abt1	activator of basal transcription 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310786	Ano1	anoctamin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310786	Ano1	anoctamin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310786	Ano1	anoctamin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310786	Ano1	anoctamin 1	gene	DOID:1115	sarcoma		ISO	RGD:1321890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310786	Ano1	anoctamin 1	gene	DOID:1909	melanoma		ISO	RGD:1321890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310786	Ano1	anoctamin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310786	Ano1	anoctamin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310786	Ano1	anoctamin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321890	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310786	Ano1	anoctamin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310786	Ano1	anoctamin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310786	Ano1	anoctamin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310786	Ano1	anoctamin 1	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1321890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
1310786	Ano1	anoctamin 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1310786	Ano1	anoctamin 1	gene	DOID:9005419	Moyamoya Disease 7		ISO	RGD:1321890	D	RGD:7240710	20240207	OMIM			
1310786	Ano1	anoctamin 1	gene	DOID:9005419	Moyamoya Disease 7		ISO	RGD:1321890	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MOYAMOYA DISEASE 7 | ClinVar Annotator: match by term: Moyamoya disease 7	PMID:25741868
1310786	Ano1	anoctamin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310786	Ano1	anoctamin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310788	Hvcn1	hydrogen voltage-gated channel 1	gene	DOID:0080600	COVID-19		ISO	RGD:1603943	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310788	Hvcn1	hydrogen voltage-gated channel 1	gene	DOID:1909	melanoma		ISO	RGD:1603943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310788	Hvcn1	hydrogen voltage-gated channel 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310788	Hvcn1	hydrogen voltage-gated channel 1	gene	DOID:3525	middle cerebral artery infarction		IMP		D	RGD:14985213|PMID:31250553	20191009	RGD			
1310788	Hvcn1	hydrogen voltage-gated channel 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310788	Hvcn1	hydrogen voltage-gated channel 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310788	Hvcn1	hydrogen voltage-gated channel 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310788	Hvcn1	hydrogen voltage-gated channel 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310789	Ankrd42	ankyrin repeat domain 42	gene	DOID:10534	stomach cancer		ISO	RGD:1605233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310789	Ankrd42	ankyrin repeat domain 42	gene	DOID:1115	sarcoma		ISO	RGD:1605233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310789	Ankrd42	ankyrin repeat domain 42	gene	DOID:1909	melanoma		ISO	RGD:1605233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310789	Ankrd42	ankyrin repeat domain 42	gene	DOID:4362	cervical cancer		ISO	RGD:1605233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310789	Ankrd42	ankyrin repeat domain 42	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310790	Plekhg4	pleckstrin homology and RhoGEF domain containing G4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310790	Plekhg4	pleckstrin homology and RhoGEF domain containing G4	gene	DOID:10534	stomach cancer		ISO	RGD:1604025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310790	Plekhg4	pleckstrin homology and RhoGEF domain containing G4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310790	Plekhg4	pleckstrin homology and RhoGEF domain containing G4	gene	DOID:1115	sarcoma		ISO	RGD:1604025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310790	Plekhg4	pleckstrin homology and RhoGEF domain containing G4	gene	DOID:1324	lung cancer		ISO	RGD:1604025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310790	Plekhg4	pleckstrin homology and RhoGEF domain containing G4	gene	DOID:1909	melanoma		ISO	RGD:1604025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310790	Plekhg4	pleckstrin homology and RhoGEF domain containing G4	gene	DOID:4362	cervical cancer		ISO	RGD:1604025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310790	Plekhg4	pleckstrin homology and RhoGEF domain containing G4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310790	Plekhg4	pleckstrin homology and RhoGEF domain containing G4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310790	Plekhg4	pleckstrin homology and RhoGEF domain containing G4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310790	Plekhg4	pleckstrin homology and RhoGEF domain containing G4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310790	Plekhg4	pleckstrin homology and RhoGEF domain containing G4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310791	Gtsf1	gametocyte specific factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605883	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310792	Six2	SIX homeobox 2	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1321897	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
1310792	Six2	SIX homeobox 2	gene	DOID:0081044	frontonasal dysplasia		ISO	RGD:1321897	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:18570229
1310792	Six2	SIX homeobox 2	gene	DOID:2154	nephroblastoma		ISO	RGD:1321897	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
1310792	Six2	SIX homeobox 2	gene	DOID:5176	renal Wilms' tumor		ISO	RGD:1321897	D	RGD:155631277|PMID:18467665	20221031	RGD		human tumor in mouse model	
1310792	Six2	SIX homeobox 2	gene	DOID:557	kidney disease		ISO	RGD:1321897	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18570229
1310792	Six2	SIX homeobox 2	gene	DOID:674	cleft palate		ISS	RGD:1321898	D	RGD:13592920	20221124	MouseDO			
1310792	Six2	SIX homeobox 2	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:1321897	D	RGD:155631310|PMID:33298161	20221101	RGD		human cells in rat model	
1310792	Six2	SIX homeobox 2	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1321898	D	RGD:155631277|PMID:18467665	20221031	RGD		mRNA:altered expression:kidney (mouse)	
1310793	Rras2	RAS related 2	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1321899	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26457647
1310793	Rras2	RAS related 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310793	Rras2	RAS related 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:24148564|PMID:24826867|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28078450|PMID:31130282|PMID:32721511|PMID:38430549
1310793	Rras2	RAS related 2	gene	DOID:0080690	RASopathy		ISO	RGD:1321899	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: rasopathies	PMID:25741868|PMID:31130282
1310793	Rras2	RAS related 2	gene	DOID:0112170	Noonan syndrome 12		ISO	RGD:1321899	D	RGD:7240710	20191030	OMIM			
1310793	Rras2	RAS related 2	gene	DOID:0112170	Noonan syndrome 12		ISO	RGD:1321899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NOONAN SYNDROME 12 | ClinVar Annotator: match by term: Noonan Syndrome 12 | ClinVar Annotator: match by term: Noonan syndrome 12 | ClinVar Annotator: match by term: RRAS2-related condition	PMID:10557073|PMID:25741868|PMID:26457647|PMID:26619011|PMID:26956871|PMID:27391150|PMID:27905446|PMID:27993330|PMID:28492532|PMID:29437595|PMID:30425122|PMID:31130282|PMID:31130285|PMID:31803624|PMID:32721511|PMID:35599849|PMID:36457486|PMID:38601074
1310793	Rras2	RAS related 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310793	Rras2	RAS related 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:17656362|PMID:24148564|PMID:24826867|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28078450|PMID:32721511
1310793	Rras2	RAS related 2	gene	DOID:3070	high grade glioma		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 2	
1310793	Rras2	RAS related 2	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:25741868|PMID:27993330|PMID:37942564
1310793	Rras2	RAS related 2	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:17656362|PMID:24148564|PMID:24826867|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28078450|PMID:31130285|PMID:32721511|PMID:37942564
1310793	Rras2	RAS related 2	gene	DOID:3304	germinoma		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germinoma	PMID:17656362|PMID:24148564|PMID:24826867|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28078450|PMID:32721511
1310793	Rras2	RAS related 2	gene	DOID:3490	Noonan syndrome		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Noonan Syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:17656362|PMID:24148564|PMID:24826867|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28078450|PMID:28492532|PMID:31130282|PMID:32721511|PMID:36476833|PMID:38601074
1310793	Rras2	RAS related 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310793	Rras2	RAS related 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310793	Rras2	RAS related 2	gene	DOID:4439	central nervous system germ cell tumor		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central nervous system germ cell tumor	PMID:25741868|PMID:26956871|PMID:27391150|PMID:27905446|PMID:27993330|PMID:28492532|PMID:31130282|PMID:31130285|PMID:32721511|PMID:35599849|PMID:36457486
1310793	Rras2	RAS related 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321899	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310793	Rras2	RAS related 2	gene	DOID:630	genetic disease		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310793	Rras2	RAS related 2	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1321899	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868|PMID:27993330|PMID:31130282|PMID:37942564
1310793	Rras2	RAS related 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1321899	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147764
1310793	Rras2	RAS related 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:17656362|PMID:24148564|PMID:24826867|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28078450|PMID:32721511
1310793	Rras2	RAS related 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:27993330|PMID:37942564
1310793	Rras2	RAS related 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1321899	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17656362|PMID:24148564|PMID:24826867|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28078450|PMID:31130282|PMID:32721511
1310793	Rras2	RAS related 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27993330|PMID:37942564
1310794	Rbm48	RNA binding motif protein 48	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310794	Rbm48	RNA binding motif protein 48	gene	DOID:1115	sarcoma		ISO	RGD:1602202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310794	Rbm48	RNA binding motif protein 48	gene	DOID:12712	nephronophthisis		ISO	RGD:1602202	D	RGD:8554872	20180807	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:26489029
1310794	Rbm48	RNA binding motif protein 48	gene	DOID:1324	lung cancer		ISO	RGD:1602202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310794	Rbm48	RNA binding motif protein 48	gene	DOID:5041	esophageal cancer		ISO	RGD:1602202	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310794	Rbm48	RNA binding motif protein 48	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310794	Rbm48	RNA binding motif protein 48	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310794	Rbm48	RNA binding motif protein 48	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310794	Rbm48	RNA binding motif protein 48	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1310795	Kremen2	kringle containing transmembrane protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310795	Kremen2	kringle containing transmembrane protein 2	gene	DOID:3275	thymoma		ISO	RGD:1321902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310795	Kremen2	kringle containing transmembrane protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310795	Kremen2	kringle containing transmembrane protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321902	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310795	Kremen2	kringle containing transmembrane protein 2	gene	DOID:9005834	Ependymomas		ISO	RGD:1321902	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1310796	Plxnd1	plexin D1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321904	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310796	Plxnd1	plexin D1	gene	DOID:0060165	Kleine-Levin syndrome		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kleine-Levin syndrome	PMID:25741868
1310796	Plxnd1	plexin D1	gene	DOID:10534	stomach cancer		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310796	Plxnd1	plexin D1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310796	Plxnd1	plexin D1	gene	DOID:11198	DiGeorge syndrome		ISS	RGD:1553585	D	RGD:13592920	20180518	MouseDO		OMIM:188400	
1310796	Plxnd1	plexin D1	gene	DOID:1324	lung cancer		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310796	Plxnd1	plexin D1	gene	DOID:13501	Moebius syndrome		ISO	RGD:1321904	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	PMID:25741868
1310796	Plxnd1	plexin D1	gene	DOID:1909	melanoma		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310796	Plxnd1	plexin D1	gene	DOID:224	transient cerebral ischemia	ameliorates	IMP		D	RGD:155663383|PMID:30653356	20221115	RGD			
1310796	Plxnd1	plexin D1	gene	DOID:2394	ovarian cancer		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310796	Plxnd1	plexin D1	gene	DOID:3275	thymoma		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310796	Plxnd1	plexin D1	gene	DOID:4362	cervical cancer		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310796	Plxnd1	plexin D1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310796	Plxnd1	plexin D1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321904	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310796	Plxnd1	plexin D1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310796	Plxnd1	plexin D1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310796	Plxnd1	plexin D1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310796	Plxnd1	plexin D1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310796	Plxnd1	plexin D1	gene	DOID:9006145	Congenital Heart Defects, Multiple Types, 9		ISO	RGD:1321904	D	RGD:7240710	20230505	OMIM			
1310796	Plxnd1	plexin D1	gene	DOID:9006145	Congenital Heart Defects, Multiple Types, 9		ISO	RGD:1321904	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9 | ClinVar Annotator: match by term: Congenital heart defects, multiple types, 9 | ClinVar Annotator: match by term: PLXND1-related condition	PMID:25741868|PMID:28492532
1310796	Plxnd1	plexin D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310796	Plxnd1	plexin D1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310796	Plxnd1	plexin D1	gene	DOID:9775	diastolic heart failure		ISO	RGD:1321904	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1310798	Chst4	carbohydrate sulfotransferase 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321907	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1310798	Chst4	carbohydrate sulfotransferase 4	gene	DOID:1909	melanoma		ISO	RGD:1321907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310799	Fam53b	family with sequence similarity 53, member B	gene	DOID:3070	high grade glioma		ISO	RGD:1350576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310799	Fam53b	family with sequence similarity 53, member B	gene	DOID:3275	thymoma		ISO	RGD:1350576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310799	Fam53b	family with sequence similarity 53, member B	gene	DOID:4362	cervical cancer		ISO	RGD:1350576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310799	Fam53b	family with sequence similarity 53, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310799	Fam53b	family with sequence similarity 53, member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310799	Fam53b	family with sequence similarity 53, member B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310800	Pcif1	phosphorylated CTD interacting factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310800	Pcif1	phosphorylated CTD interacting factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1321911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310800	Pcif1	phosphorylated CTD interacting factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310800	Pcif1	phosphorylated CTD interacting factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321911	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310800	Pcif1	phosphorylated CTD interacting factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310800	Pcif1	phosphorylated CTD interacting factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310800	Pcif1	phosphorylated CTD interacting factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310800	Pcif1	phosphorylated CTD interacting factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310801	Zgpat	zinc finger CCCH-type and G-patch domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1606771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310801	Zgpat	zinc finger CCCH-type and G-patch domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310801	Zgpat	zinc finger CCCH-type and G-patch domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1606771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310801	Zgpat	zinc finger CCCH-type and G-patch domain containing	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1606771	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
1310801	Zgpat	zinc finger CCCH-type and G-patch domain containing	gene	DOID:1909	melanoma		ISO	RGD:1606771	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310801	Zgpat	zinc finger CCCH-type and G-patch domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1606771	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310801	Zgpat	zinc finger CCCH-type and G-patch domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310802	Gabpa	GA binding protein transcription factor subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310802	Gabpa	GA binding protein transcription factor subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:1321915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310802	Gabpa	GA binding protein transcription factor subunit alpha	gene	DOID:3070	high grade glioma		ISO	RGD:1321915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310802	Gabpa	GA binding protein transcription factor subunit alpha	gene	DOID:3275	thymoma		ISO	RGD:1321915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310802	Gabpa	GA binding protein transcription factor subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1321915	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310802	Gabpa	GA binding protein transcription factor subunit alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310802	Gabpa	GA binding protein transcription factor subunit alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310802	Gabpa	GA binding protein transcription factor subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310802	Gabpa	GA binding protein transcription factor subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310803	Pnma8a	PNMA family member 8A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310803	Pnma8a	PNMA family member 8A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310803	Pnma8a	PNMA family member 8A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310803	Pnma8a	PNMA family member 8A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310804	Gprc5a	G protein-coupled receptor, class C, group 5, member A	gene	DOID:10534	stomach cancer		ISO	RGD:1603705	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310804	Gprc5a	G protein-coupled receptor, class C, group 5, member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310804	Gprc5a	G protein-coupled receptor, class C, group 5, member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603705	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310804	Gprc5a	G protein-coupled receptor, class C, group 5, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310804	Gprc5a	G protein-coupled receptor, class C, group 5, member A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310804	Gprc5a	G protein-coupled receptor, class C, group 5, member A	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1603705	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17379860
1310804	Gprc5a	G protein-coupled receptor, class C, group 5, member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310805	Ebf2	EBF transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310805	Ebf2	EBF transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310805	Ebf2	EBF transcription factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310805	Ebf2	EBF transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321920	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310805	Ebf2	EBF transcription factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310805	Ebf2	EBF transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310805	Ebf2	EBF transcription factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310805	Ebf2	EBF transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:0050715	methylmalonic aciduria and homocystinuria type cblC		ISO	RGD:1601765	D	RGD:7240710	20130221	OMIM			
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:0050715	methylmalonic aciduria and homocystinuria type cblC		ISO	RGD:1601765	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE | ClinVar Annotator: match by term: MMACHC-related condition | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC	PMID:0157807|PMID:11261516|PMID:14568819|PMID:16199547|PMID:1631159|PMID:16311595|PMID:16714133|PMID:17576681|PMID:17768669|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19573432|PMID:19700356|PMID:19760748|PMID:19767224|PMID:19836982|PMID:19914430|PMID:20610126|PMID:20631720|PMID:20652818|PMID:20924684|PMID:21055272|PMID:21114891|PMID:21697092|PMID:22447314|PMID:22642810|PMID:23241609|PMID:23754956|PMID:23825108|PMID:23837176|PMID:23932106|PMID:23954310|PMID:24033266|PMID:24126030|PMID:24210589|PMID:2459960|PMID:24599607|PMID:24853097|PMID:25388550|PMID:25398587|PMID:25668207|PMID:25672861|PMID:25689098|PMID:25741868|PMID:25742969|PMID:25772322|PMID:25894566|PMID:26149271|PMID:26270766|PMID:26287336|PMID:26467025|PMID:26563984|PMID:26658511|PMID:26825575|PMID:26979128|PMID:26990548|PMID:27252276|PMID:27383490|PMID:27751223|PMID:28151490|PMID:28218226|PMID:28327205|PMID:28481040|PMID:28492532|PMID:28693988|PMID:28835862|PMID:29068997|PMID:29294253|PMID:29302025|PMID:29340559|PMID:29374341|PMID:29379858|PMID:29453417|PMID:29558000|PMID:29581464|PMID:29731766|PMID:30041674|PMID:30157807|PMID:30197982|PMID:30209273|PMID:30293248|PMID:30863077|PMID:31092259|PMID:31137025|PMID:31203424|PMID:31279840|PMID:31470807|PMID:31503356|PMID:31555752|PMID:31574870|PMID:31589614|PMID:31998365|PMID:32005694|PMID:32071835|PMID:32164588|PMID:32208535|PMID:32481360|PMID:32778825|PMID:32943488|PMID:33240318|PMID:33411215|PMID:33473346|PMID:33515116|PMID:33691766|PMID:33726816|PMID:33931066|PMID:33982424|PMID:34102818|PMID:34215320|PMID:34356170|PMID:34389282|PMID:34445196|PMID:34510336|PMID:34976764|PMID:35069678|PMID:35109910|PMID:35127762|PMID:35156754|PMID:35193651|PMID:35361390|PMID:35464742|PMID:35865640|PMID:36056359|PMID:36246604|PMID:36849356|PMID:37770946|PMID:38070096|PMID:38387306|PMID:38750596|PMID:38928247|PMID:39916850|PMID:40441036|PMID:6311595|PMID:9536098
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:0050715	methylmalonic aciduria and homocystinuria type cblC		ISS	RGD:1321921	D	RGD:13592920	20230718	MouseDO		OMIM:277400	
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1601765	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5	PMID:16311595|PMID:16714133|PMID:17768669|PMID:17853453|PMID:18164228|PMID:19370762|PMID:19760748|PMID:20549364|PMID:20610126|PMID:20631720|PMID:23757202|PMID:23837176|PMID:24033266|PMID:24126030|PMID:24599607|PMID:25687216|PMID:25741868|PMID:25894566|PMID:26467025|PMID:28492532|PMID:29396438|PMID:31279840
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:1059	intellectual disability		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16311595|PMID:19370762|PMID:20631720|PMID:23954310|PMID:25741868|PMID:25772322|PMID:26283149|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30209273
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:10907	microcephaly		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16311595|PMID:19370762|PMID:20631720|PMID:23954310|PMID:25741868|PMID:25772322|PMID:26283149|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30209273
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:10908	hydrocephalus		ISO	RGD:1601765	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:16311595|PMID:19370762|PMID:20631720|PMID:23954310|PMID:25741868|PMID:25772322|PMID:26283149|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30209273
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:12849	autistic disorder		ISO	RGD:1601765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:16311595|PMID:16714133|PMID:17768669|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19700356|PMID:19760748|PMID:20219402|PMID:20549364|PMID:20610126|PMID:20631720|PMID:21055272|PMID:22560872|PMID:23825108|PMID:23837176|PMID:24033266|PMID:24126030|PMID:24599607|PMID:25687216|PMID:25741868|PMID:25809485|PMID:25894566|PMID:26283149|PMID:26467025|PMID:28218226|PMID:28492532|PMID:28693988|PMID:28835862|PMID:29294253|PMID:31137025|PMID:31279840|PMID:32164588|PMID:33562640|PMID:36338977
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:13934	facial paralysis		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Facial palsy	PMID:19370762|PMID:25741868|PMID:28492532
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Methylmalonic aciduria	PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:20631720|PMID:21697092|PMID:23954310|PMID:24126030|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:25772322|PMID:26283149|PMID:26825575|PMID:26990548|PMID:27383490|PMID:28327205|PMID:28492532|PMID:29302025|PMID:30209273|PMID:34356170|PMID:38387306|PMID:40441036
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:1657	ventricular septal defect		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:19370762|PMID:25741868|PMID:28492532
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:1826	epilepsy		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16311595|PMID:19370762|PMID:20631720|PMID:23954310|PMID:25741868|PMID:25772322|PMID:26283149|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30209273
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:3070	high grade glioma		ISO	RGD:1601765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:3086	gingival overgrowth		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	PMID:19370762|PMID:25741868|PMID:28492532
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:5679	retinal disease		ISO	RGD:1601765	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:16311595|PMID:19370762|PMID:20631720|PMID:21835369|PMID:23954310|PMID:25741868|PMID:26149271|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30157807|PMID:31278756|PMID:35361390|PMID:36056359|PMID:38750596
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:630	genetic disease		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:21697092|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:26825575|PMID:26990548|PMID:28492532|PMID:34356170|PMID:40441036
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism	PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19700356|PMID:20631720|PMID:21697092|PMID:23954310|PMID:24033266|PMID:24126030|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:25772322|PMID:26283149|PMID:26825575|PMID:26990548|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30209273|PMID:34356170|PMID:40441036
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:83	cataract		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:19370762|PMID:25741868|PMID:28492532
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:19370762|PMID:25741868|PMID:28492532
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:9005614	Methylmalonic Aciduria and Homocystinuria		ISO	RGD:1601765	D	RGD:11554173	20260414	CTD		CTD Direct Evidence: marker/mechanism	PMID:19700356
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601765	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16311595|PMID:19370762|PMID:20631720|PMID:23954310|PMID:25741868|PMID:25772322|PMID:26283149|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30209273
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1601765	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:16311595|PMID:19370762|PMID:20631720|PMID:23954310|PMID:25741868|PMID:25772322|PMID:26283149|PMID:27383490|PMID:28327205|PMID:28492532|PMID:30209273
1310806	Mmachc	metabolism of cobalamin associated C	gene	DOID:9008385	Vomiting		ISO	RGD:1601765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:0110078	Leber congenital amaurosis 1		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 1	PMID:17576681|PMID:28492532|PMID:32865313|PMID:9536098
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:0110329	Leber congenital amaurosis 6		ISO	RGD:1321922	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:0110329	Leber congenital amaurosis 6		ISO	RGD:1321922	D	RGD:7240710	20141015	OMIM			
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:0110329	Leber congenital amaurosis 6		ISO	RGD:1321922	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 6 | ClinVar Annotator: match by term: Leber congenital amaurosis 6	PMID:11283794|PMID:11528500|PMID:15024725|PMID:16199547|PMID:17525851|PMID:17576681|PMID:20079931|PMID:21224891|PMID:21602930|PMID:23105016|PMID:23776498|PMID:24516651|PMID:25412400|PMID:25741868|PMID:26667666|PMID:26893459|PMID:28041643|PMID:28181551|PMID:28456785|PMID:28492532|PMID:28714225|PMID:29178642|PMID:29844330|PMID:30072743|PMID:30576320|PMID:30718709|PMID:31736247|PMID:31816670|PMID:32531858|PMID:33970760|PMID:36909829|PMID:9536098
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:0110329	Leber congenital amaurosis 6		ISS	RGD:1321923	D	RGD:13592920	20230718	MouseDO		OMIM:613826	
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:0111002	Joubert syndrome 7		ISO	RGD:1321922	D	RGD:8554872	20200407	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 7	
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:0111016	cone-rod dystrophy 13		ISO	RGD:1321922	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:0111016	cone-rod dystrophy 13		ISO	RGD:1321922	D	RGD:7240710	20130425	OMIM			
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:0111016	cone-rod dystrophy 13		ISO	RGD:1321922	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 13	PMID:11283794|PMID:11528500|PMID:12920076|PMID:15024725|PMID:16123401|PMID:16199547|PMID:17525851|PMID:17576681|PMID:17964524|PMID:18055816|PMID:18682808|PMID:20079931|PMID:21224891|PMID:23105016|PMID:23661368|PMID:24123792|PMID:24516651|PMID:24997176|PMID:25326637|PMID:25412400|PMID:25640679|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26667666|PMID:26766544|PMID:26872967|PMID:26893459|PMID:26992781|PMID:28157192|PMID:28181551|PMID:28378820|PMID:28453600|PMID:28492532|PMID:28714225|PMID:29178642|PMID:29343940|PMID:29754767|PMID:29844330|PMID:30072743|PMID:30202406|PMID:30902645|PMID:31630094|PMID:31816670|PMID:32531858|PMID:32865313|PMID:33970760|PMID:34796026|PMID:36369640|PMID:36909829|PMID:9536098
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321922	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16272259
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321922	D	RGD:1599581|PMID:12920076	20070207	RGD			
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:11528500|PMID:23105016|PMID:24516651|PMID:25741868|PMID:28181551|PMID:28456785|PMID:28492532|PMID:30072743|PMID:31816670|PMID:32531858|PMID:34722527|PMID:34906470|PMID:36909829
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1321922	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321922	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11283794|PMID:11528500
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321922	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:11283794|PMID:11528500|PMID:16199547|PMID:16272259|PMID:20065226|PMID:20079931|PMID:21602930|PMID:23105016|PMID:24123792|PMID:24516651|PMID:24997176|PMID:25741868|PMID:26047050|PMID:27422788|PMID:28041643|PMID:28181551|PMID:28456785|PMID:28492532|PMID:28714225|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30718709|PMID:31630094|PMID:31816670|PMID:32165824|PMID:32531858|PMID:32581362|PMID:32860008|PMID:33670832|PMID:36909829
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321922	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease	PMID:11283794|PMID:11528500|PMID:16199547|PMID:16272259|PMID:20065226|PMID:20079931|PMID:21602930|PMID:23105016|PMID:24123792|PMID:24516651|PMID:24997176|PMID:25741868|PMID:26047050|PMID:27422788|PMID:28041643|PMID:28181551|PMID:28456785|PMID:28492532|PMID:28714225|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30718709|PMID:31630094|PMID:31816670|PMID:32165824|PMID:32531858|PMID:32581362|PMID:32860008|PMID:33308271|PMID:33670832|PMID:36369640|PMID:36819107|PMID:36909829
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1321922	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:11528500|PMID:16199547|PMID:20065226|PMID:23105016|PMID:24516651|PMID:25741868|PMID:28041643|PMID:28181551|PMID:28492532|PMID:30072743|PMID:30576320|PMID:31816670|PMID:32531858|PMID:33308271|PMID:33670832|PMID:36819107|PMID:36909829
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1321922	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321922	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:5679	retinal disease		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:11528500|PMID:23105016|PMID:25741868|PMID:28492532|PMID:29178642|PMID:31456290
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:5723	optic atrophy		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:33737949
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:630	genetic disease		ISO	RGD:1321922	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:1321922	D	RGD:1599580|PMID:11283794	20070207	RGD			
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321922	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12920076
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321922	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11528500|PMID:15800011|PMID:16123401|PMID:16199547|PMID:17576681|PMID:21224891|PMID:23105016|PMID:23213406|PMID:2426569|PMID:24265693|PMID:24516651|PMID:25445212|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26626312|PMID:27208204|PMID:28181551|PMID:28456785|PMID:28492532|PMID:28559085|PMID:28714225|PMID:29844330|PMID:30072743|PMID:30576320|PMID:31429209|PMID:31555371|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32531858|PMID:32865313|PMID:33090715|PMID:33308271|PMID:3442652|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1321922	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:24123792|PMID:25741868|PMID:26047050|PMID:27422788|PMID:28492532|PMID:32581362|PMID:36819107
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1321922	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11283794
1310807	Rpgrip1	RPGR interacting protein 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1321922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pendular nystagmus	
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:0110255	cataract 5 multiple types		ISO	RGD:1321924	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:0110255	cataract 5 multiple types		ISO	RGD:1321924	D	RGD:7240710	20130425	OMIM			
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:0110255	cataract 5 multiple types		ISO	RGD:1321924	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CATARACT 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Cataract 5 multiple types | ClinVar Annotator: match by term: HSF4-related disorder | ClinVar Annotator: match by term: Zonular cataract	PMID:15277496|PMID:15959809|PMID:16199547|PMID:16876512|PMID:17576681|PMID:18941546|PMID:19014451|PMID:20670914|PMID:24045990|PMID:24637349|PMID:24975927|PMID:25148791|PMID:25741868|PMID:28492532|PMID:30078984|PMID:31815953|PMID:33923544|PMID:34169787|PMID:9536098
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:0110255	cataract 5 multiple types		ISS	RGD:1321925	D	RGD:13592920	20230718	MouseDO		OMIM:116800	
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:1909	melanoma		ISO	RGD:1321924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:3459	breast carcinoma		ISO	RGD:1321924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:630	genetic disease		ISO	RGD:1321924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:83	cataract		ISO	RGD:1321924	D	RGD:1599774|PMID:12089525	20070214	RGD		autosomal dominant lamellar cataract, OMIM:116800	
1310808	Hsf4	heat shock transcription factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310809	Lancl2	LanC like glutathione S-transferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310809	Lancl2	LanC like glutathione S-transferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310809	Lancl2	LanC like glutathione S-transferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1321926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310809	Lancl2	LanC like glutathione S-transferase 2	gene	DOID:1909	melanoma		ISO	RGD:1321926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310809	Lancl2	LanC like glutathione S-transferase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310809	Lancl2	LanC like glutathione S-transferase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310809	Lancl2	LanC like glutathione S-transferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310809	Lancl2	LanC like glutathione S-transferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310809	Lancl2	LanC like glutathione S-transferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310809	Lancl2	LanC like glutathione S-transferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310810	Pomk	protein-O-mannose kinase	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1602085	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1310810	Pomk	protein-O-mannose kinase	gene	DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12		ISO	RGD:1602085	D	RGD:7240710	20140911	OMIM			
1310810	Pomk	protein-O-mannose kinase	gene	DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12		ISO	RGD:1602085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED	PMID:23519211|PMID:24556084|PMID:24925318|PMID:25741868|PMID:27879205|PMID:28492532|PMID:29910097|PMID:30060766|PMID:32907597
1310810	Pomk	protein-O-mannose kinase	gene	DOID:0112381	muscular dystrophy-dystroglycanopathy type C12		ISO	RGD:1602085	D	RGD:7240710	20171011	OMIM			
1310810	Pomk	protein-O-mannose kinase	gene	DOID:0112381	muscular dystrophy-dystroglycanopathy type C12		ISO	RGD:1602085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy due to POMK deficiency | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	PMID:17576681|PMID:24556084|PMID:24925318|PMID:25741868|PMID:28492532|PMID:29910097|PMID:30060766|PMID:9536098
1310810	Pomk	protein-O-mannose kinase	gene	DOID:10908	hydrocephalus		ISS	RGD:1321928	D	RGD:13592920	20180518	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
1310810	Pomk	protein-O-mannose kinase	gene	DOID:630	genetic disease		ISO	RGD:1602085	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:1059	intellectual disability		ISO	RGD:1321929	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:1115	sarcoma		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:1324	lung cancer		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:1909	melanoma		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:3275	thymoma		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:4362	cervical cancer		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:1321929	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:630	genetic disease		ISO	RGD:1321929	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:36413997
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9002093	Lysine Intolerance		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lysine intolerance	PMID:28492532
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321929	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9274	hyperlysinemia		ISO	RGD:1321929	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9274	hyperlysinemia		ISO	RGD:1321929	D	RGD:7240710	20130221	OMIM			
1310811	Aass	aminoadipate-semialdehyde synthase	gene	DOID:9274	hyperlysinemia		ISO	RGD:1321929	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AASS-related disorder | ClinVar Annotator: match by term: HYPERLYSINEMIA, TYPE I | ClinVar Annotator: match by term: Hyperlysinemia | ClinVar Annotator: match by term: hyperlysinemia	PMID:23570448|PMID:25741868|PMID:28492532|PMID:36983702
1310812	Pmvk	phosphomevalonate kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310812	Pmvk	phosphomevalonate kinase	gene	DOID:3805	porokeratosis		ISO	RGD:1321931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Linear porokeratosis	PMID:30942823
1310812	Pmvk	phosphomevalonate kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1321931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310812	Pmvk	phosphomevalonate kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1321931	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310812	Pmvk	phosphomevalonate kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310812	Pmvk	phosphomevalonate kinase	gene	DOID:630	genetic disease		ISO	RGD:1321931	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1310812	Pmvk	phosphomevalonate kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310812	Pmvk	phosphomevalonate kinase	gene	DOID:9007627	Porokeratosis 1, Multiple Types		ISO	RGD:1321931	D	RGD:7240710	20171011	OMIM			
1310812	Pmvk	phosphomevalonate kinase	gene	DOID:9007627	Porokeratosis 1, Multiple Types		ISO	RGD:1321931	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: PMVK-related condition | ClinVar Annotator: match by term: POROKERATOSIS 1, MULTIPLE TYPES	PMID:25741868|PMID:27052676|PMID:30942823
1310813	Tchp	trichoplein, keratin filament binding	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310813	Tchp	trichoplein, keratin filament binding	gene	DOID:1115	sarcoma		ISO	RGD:1604269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310813	Tchp	trichoplein, keratin filament binding	gene	DOID:4362	cervical cancer		ISO	RGD:1604269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310813	Tchp	trichoplein, keratin filament binding	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310813	Tchp	trichoplein, keratin filament binding	gene	DOID:5041	esophageal cancer		ISO	RGD:1604269	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310813	Tchp	trichoplein, keratin filament binding	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310813	Tchp	trichoplein, keratin filament binding	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310813	Tchp	trichoplein, keratin filament binding	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310815	Klhl25	kelch-like family member 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310815	Klhl25	kelch-like family member 25	gene	DOID:10534	stomach cancer		ISO	RGD:1605054	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310815	Klhl25	kelch-like family member 25	gene	DOID:1909	melanoma		ISO	RGD:1605054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310815	Klhl25	kelch-like family member 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310815	Klhl25	kelch-like family member 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310816	Ube2t	ubiquitin-conjugating enzyme E2T	gene	DOID:0111081	Fanconi anemia complementation group T		ISO	RGD:1606013	D	RGD:7240710	20170222	OMIM			
1310816	Ube2t	ubiquitin-conjugating enzyme E2T	gene	DOID:0111081	Fanconi anemia complementation group T		ISO	RGD:1606013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP T | ClinVar Annotator: match by term: Fanconi anemia complementation group T	PMID:25741868|PMID:26046368|PMID:26119737
1310816	Ube2t	ubiquitin-conjugating enzyme E2T	gene	DOID:4362	cervical cancer		ISO	RGD:1606013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310816	Ube2t	ubiquitin-conjugating enzyme E2T	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310816	Ube2t	ubiquitin-conjugating enzyme E2T	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606013	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310816	Ube2t	ubiquitin-conjugating enzyme E2T	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1606013	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:28321044
1310817	Gpr132	G protein-coupled receptor 132	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310817	Gpr132	G protein-coupled receptor 132	gene	DOID:1115	sarcoma		ISO	RGD:1321937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310817	Gpr132	G protein-coupled receptor 132	gene	DOID:417	autoimmune disease		ISS	RGD:1321938	D	RGD:13592920	20180518	MouseDO		OMIM:109100 | OMIM:607836 | OMIM:613551	
1310817	Gpr132	G protein-coupled receptor 132	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310817	Gpr132	G protein-coupled receptor 132	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310817	Gpr132	G protein-coupled receptor 132	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310819	Cracdl	CRACD like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310819	Cracdl	CRACD like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310819	Cracdl	CRACD like	gene	DOID:1324	lung cancer		ISO	RGD:1602270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310819	Cracdl	CRACD like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310819	Cracdl	CRACD like	gene	DOID:3070	high grade glioma		ISO	RGD:1602270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310819	Cracdl	CRACD like	gene	DOID:3275	thymoma		ISO	RGD:1602270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310819	Cracdl	CRACD like	gene	DOID:4362	cervical cancer		ISO	RGD:1602270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310819	Cracdl	CRACD like	gene	DOID:5041	esophageal cancer		ISO	RGD:1602270	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310819	Cracdl	CRACD like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310819	Cracdl	CRACD like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310819	Cracdl	CRACD like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310819	Cracdl	CRACD like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:2394	ovarian cancer		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1321941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321941	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321941	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310820	Col15a1	collagen type XV alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1310821	Dolk	dolichol kinase	gene	DOID:0080565	congenital disorder of glycosylation Im		ISO	RGD:1321943	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310821	Dolk	dolichol kinase	gene	DOID:0080565	congenital disorder of glycosylation Im		ISO	RGD:1321943	D	RGD:7240710	20190315	OMIM			
1310821	Dolk	dolichol kinase	gene	DOID:0080565	congenital disorder of glycosylation Im		ISO	RGD:1321943	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M | ClinVar Annotator: match by term: DOLICHOL KINASE DEFICIENCY | ClinVar Annotator: match by term: DOLK-congenital disorder of glycosylation | ClinVar Annotator: match by term: DOLK-related condition	PMID:22242004|PMID:23806237|PMID:23890587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30665423|PMID:30775854|PMID:35279850
1310821	Dolk	dolichol kinase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1321943	D	RGD:8554872	20210309	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
1310822	Cttnbp2nl	CTTNBP2 N-terminal like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310822	Cttnbp2nl	CTTNBP2 N-terminal like	gene	DOID:1115	sarcoma		ISO	RGD:1607020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310822	Cttnbp2nl	CTTNBP2 N-terminal like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310822	Cttnbp2nl	CTTNBP2 N-terminal like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310822	Cttnbp2nl	CTTNBP2 N-terminal like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1607020	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310822	Cttnbp2nl	CTTNBP2 N-terminal like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310822	Cttnbp2nl	CTTNBP2 N-terminal like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310823	Recql5	RecQ like helicase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310823	Recql5	RecQ like helicase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310823	Recql5	RecQ like helicase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310823	Recql5	RecQ like helicase 5	gene	DOID:1115	sarcoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310823	Recql5	RecQ like helicase 5	gene	DOID:1324	lung cancer		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310823	Recql5	RecQ like helicase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310823	Recql5	RecQ like helicase 5	gene	DOID:2661	myoepithelioma		ISO	RGD:1321946	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1310823	Recql5	RecQ like helicase 5	gene	DOID:3275	thymoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310823	Recql5	RecQ like helicase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310823	Recql5	RecQ like helicase 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310823	Recql5	RecQ like helicase 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310823	Recql5	RecQ like helicase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1321946	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310823	Recql5	RecQ like helicase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310823	Recql5	RecQ like helicase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310823	Recql5	RecQ like helicase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310823	Recql5	RecQ like helicase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310823	Recql5	RecQ like helicase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310824	Eif4ebp2	eukaryotic translation initiation factor 4E binding protein 2	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1321949	D	RGD:13592920	20190516	MouseDO			
1310824	Eif4ebp2	eukaryotic translation initiation factor 4E binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310824	Eif4ebp2	eukaryotic translation initiation factor 4E binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321948	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310824	Eif4ebp2	eukaryotic translation initiation factor 4E binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310824	Eif4ebp2	eukaryotic translation initiation factor 4E binding protein 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321948	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1310825	Pgbd5	piggyBac transposable element derived 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310825	Pgbd5	piggyBac transposable element derived 5	gene	DOID:0070696	neurodevelopmental disorder with seizures, hypotonia, and variable spasticity		ISO	RGD:1321950	D	RGD:7240710	20260311	OMIM			
1310825	Pgbd5	piggyBac transposable element derived 5	gene	DOID:0070696	neurodevelopmental disorder with seizures, hypotonia, and variable spasticity		ISO	RGD:1321950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity	
1310825	Pgbd5	piggyBac transposable element derived 5	gene	DOID:1909	melanoma		ISO	RGD:1321950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310825	Pgbd5	piggyBac transposable element derived 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310825	Pgbd5	piggyBac transposable element derived 5	gene	DOID:3275	thymoma		ISO	RGD:1321950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310825	Pgbd5	piggyBac transposable element derived 5	gene	DOID:3672	rhabdoid cancer		ISO	RGD:1321950	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28504702
1310825	Pgbd5	piggyBac transposable element derived 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1321950	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310825	Pgbd5	piggyBac transposable element derived 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310825	Pgbd5	piggyBac transposable element derived 5	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1321950	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28504702
1310826	Actr2	actin related protein 2	gene	DOID:0080199	colorectal carcinoma	severity	ISO	RGD:1321952	D	RGD:11570560|PMID:14990971	20161220	RGD		protein:increased expression:colonic mucosa (human)	
1310826	Actr2	actin related protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1321952	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: intellectual disability	PMID:25741868
1310826	Actr2	actin related protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1321952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310826	Actr2	actin related protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310826	Actr2	actin related protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310826	Actr2	actin related protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310826	Actr2	actin related protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310826	Actr2	actin related protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321952	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310826	Actr2	actin related protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310826	Actr2	actin related protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310826	Actr2	actin related protein 2	gene	DOID:850	lung disease		ISO	RGD:1321952	D	RGD:401851918|PMID:37731513	20231031	RGD		mRNA:decreased expression:lung (human)	
1310826	Actr2	actin related protein 2	gene	DOID:9000998	Brain Injuries		IEP		D	RGD:11530046|PMID:22120305	20160822	RGD		mRNA, protein:decreased expression:hippocampus (rat)	
1310826	Actr2	actin related protein 2	gene	DOID:9006832	Puromycin Aminonucleoside Nephrosis		IEP		D	RGD:11530057|PMID:19617259	20160823	RGD		mRNA, protein:increased expression:cortex of kidney (rat)	
1310826	Actr2	actin related protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310827	Tril	TLR4 interactor with leucine-rich repeats	gene	DOID:2513	basal cell carcinoma		ISO	RGD:4143834	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1310827	Tril	TLR4 interactor with leucine-rich repeats	gene	DOID:4362	cervical cancer		ISO	RGD:4143834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310827	Tril	TLR4 interactor with leucine-rich repeats	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:4143834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310828	Tmem129	transmembrane protein 129, E3 ubiquitin ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310828	Tmem129	transmembrane protein 129, E3 ubiquitin ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310828	Tmem129	transmembrane protein 129, E3 ubiquitin ligase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310828	Tmem129	transmembrane protein 129, E3 ubiquitin ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1606992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310828	Tmem129	transmembrane protein 129, E3 ubiquitin ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310828	Tmem129	transmembrane protein 129, E3 ubiquitin ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310829	Cyb561d1	cytochrome b561 family, member D1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310829	Cyb561d1	cytochrome b561 family, member D1	gene	DOID:1115	sarcoma		ISO	RGD:1321956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310829	Cyb561d1	cytochrome b561 family, member D1	gene	DOID:1324	lung cancer		ISO	RGD:1321956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310829	Cyb561d1	cytochrome b561 family, member D1	gene	DOID:4362	cervical cancer		ISO	RGD:1321956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310829	Cyb561d1	cytochrome b561 family, member D1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310829	Cyb561d1	cytochrome b561 family, member D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310829	Cyb561d1	cytochrome b561 family, member D1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321956	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310831	Trpt1	tRNA phosphotransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310831	Trpt1	tRNA phosphotransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310831	Trpt1	tRNA phosphotransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1349455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310831	Trpt1	tRNA phosphotransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1349455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310831	Trpt1	tRNA phosphotransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1349455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310831	Trpt1	tRNA phosphotransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310831	Trpt1	tRNA phosphotransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349455	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310831	Trpt1	tRNA phosphotransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310831	Trpt1	tRNA phosphotransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310833	Riok3	RIO kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310833	Riok3	RIO kinase 3	gene	DOID:0081364	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		ISO	RGD:1321961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	PMID:25741868
1310833	Riok3	RIO kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310833	Riok3	RIO kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1321961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310833	Riok3	RIO kinase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310833	Riok3	RIO kinase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310833	Riok3	RIO kinase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310833	Riok3	RIO kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310833	Riok3	RIO kinase 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1321961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:0050426	Stevens-Johnson syndrome		ISS	RGD:1553089	D	RGD:13592920	20180518	MouseDO			
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:0060058	lymphoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:10534	stomach cancer		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:1115	sarcoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:1324	lung cancer		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:2394	ovarian cancer		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:3310	atopic dermatitis		ISS	RGD:1553089	D	RGD:13592920	20180518	MouseDO		OMIM:603165	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350232	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310834	Nfkbiz	NFKB inhibitor zeta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310835	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310835	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310835	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:1909	melanoma		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310835	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310835	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310835	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310835	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310835	Uspl1	ubiquitin specific peptidase like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1321964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321966	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:1909	melanoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:3275	thymoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321966	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1321966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22387750
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:9004786	Carbon Tetrachloride Poisoning	treatment	IEP		D	RGD:598130074|PMID:26081032	20250414	RGD			
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321966	D	RGD:11554173	20200114	CTD		CTD Direct Evidence: marker/mechanism	PMID:31444509
1310836	Ptges2	prostaglandin E synthase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:10534	stomach cancer		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:1115	sarcoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:1324	lung cancer		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:1909	melanoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:3070	high grade glioma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:3275	thymoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310838	Pds5b	PDS5 cohesin associated factor B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310840	Tagln2	transgelin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310840	Tagln2	transgelin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310840	Tagln2	transgelin 2	gene	DOID:1324	lung cancer		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310840	Tagln2	transgelin 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1321972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
1310840	Tagln2	transgelin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321972	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310840	Tagln2	transgelin 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1321972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1310840	Tagln2	transgelin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310840	Tagln2	transgelin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310840	Tagln2	transgelin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
1310840	Tagln2	transgelin 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1321972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310840	Tagln2	transgelin 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1310840	Tagln2	transgelin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310841	Zbtb21	zinc finger and BTB domain containing 21	gene	DOID:10534	stomach cancer		ISO	RGD:1321974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310841	Zbtb21	zinc finger and BTB domain containing 21	gene	DOID:1115	sarcoma		ISO	RGD:1321974	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310841	Zbtb21	zinc finger and BTB domain containing 21	gene	DOID:1324	lung cancer		ISO	RGD:1321974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310841	Zbtb21	zinc finger and BTB domain containing 21	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310841	Zbtb21	zinc finger and BTB domain containing 21	gene	DOID:4362	cervical cancer		ISO	RGD:1321974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310841	Zbtb21	zinc finger and BTB domain containing 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310841	Zbtb21	zinc finger and BTB domain containing 21	gene	DOID:9256	colorectal cancer		ISO	RGD:1321974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:1321976	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1321976	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4	
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0060249	scoliosis		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0110181	Charcot-Marie-Tooth disease axonal type 2Z		ISO	RGD:1321976	D	RGD:7240710	20160113	OMIM			
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0110181	Charcot-Marie-Tooth disease axonal type 2Z		ISO	RGD:1321976	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Z | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2z	PMID:16199547|PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:27105897|PMID:27329773|PMID:27794525|PMID:28135719|PMID:28334961|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:29858556|PMID:30093560|PMID:30624633|PMID:31211173|PMID:31475037|PMID:31618753|PMID:31785789|PMID:32693025|PMID:33057194|PMID:33619735|PMID:34059105|PMID:34189813|PMID:34630290|PMID:34664855|PMID:35982159|PMID:36791574|PMID:37091313|PMID:37337996|PMID:37692502|PMID:38227798|PMID:39433808|PMID:39533303|PMID:9536098
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0110181	Charcot-Marie-Tooth disease axonal type 2Z		ISS	RGD:1551651	D	RGD:13592920	20240215	MouseDO		OMIM:616688	
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0111198	autosomal dominant distal hereditary motor neuronopathy		ISO	RGD:1321976	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy	PMID:26659848|PMID:28492532|PMID:31475037
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:0111428	essential tremor 1		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:1059	intellectual disability		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1321976	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28581500
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:27105897|PMID:28492532|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:34059105|PMID:38227798
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:10863	paralytic squint		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paralytic strabismus	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:10907	microcephaly		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:1115	sarcoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:11162	respiratory failure		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:1143	exotropia		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exophoria	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:11836	clubfoot		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28492532
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:12642	hiatus hernia		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:1324	lung cancer		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:1826	epilepsy		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:1909	melanoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:28492532|PMID:9536098
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:219	colon cancer		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:255	hemangioma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glabellar hemangioma	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:3275	thymoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:423	myopathy		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:28492532|PMID:28771897|PMID:32693025|PMID:33619735|PMID:34189813|PMID:34630290
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321976	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:540	strabismus		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:630	genetic disease		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27329773|PMID:27794525|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:33619735|PMID:34059105|PMID:34189813|PMID:34630290|PMID:34664855|PMID:37091313|PMID:37337996|PMID:38227798|PMID:39533303|PMID:9536098
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:630	genetic disease		ISO	RGD:1321976	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27329773|PMID:27794525|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:33619735|PMID:34059105|PMID:34189813|PMID:34630290|PMID:34664855|PMID:37091313|PMID:37337996|PMID:39533303|PMID:9536098
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:630	genetic disease		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27329773|PMID:27794525|PMID:28135719|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:33619735|PMID:34059105|PMID:34189813|PMID:34630290|PMID:34664855|PMID:37091313|PMID:37337996|PMID:38227798|PMID:39533303|PMID:9536098
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:83	cataract		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:870	neuropathy		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia	PMID:28492532
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532|PMID:32693025|PMID:34664855
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:32693025|PMID:34664855
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9001354	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY		ISO	RGD:1321976	D	RGD:7240710	20210217	OMIM			
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9001354	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY | ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	PMID:25741868|PMID:25741893|PMID:26497905|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:34664855|PMID:36791574|PMID:37337996|PMID:38227798|PMID:39433808|PMID:39533303
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9001510	Funnel Chest		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9003137	Photophobia		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9003703	Coxa Valga		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28492532
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9004866	Ataxia		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	PMID:25741868|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:32693025|PMID:34059105|PMID:37337996|PMID:39533303
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:36791574|PMID:39433808
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:34664855|PMID:36791574|PMID:39433808
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:25741893|PMID:26497905|PMID:27105897|PMID:28492532|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:34059105|PMID:38227798
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28135719|PMID:28492532|PMID:32693025
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature	PMID:25741868|PMID:28492532|PMID:32693025|PMID:34664855
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321976	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25741893|PMID:26497905|PMID:27105897|PMID:28135719|PMID:28492532|PMID:28581500|PMID:29440755|PMID:30624633|PMID:31211173|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:34664855|PMID:36791574|PMID:37337996|PMID:38227798|PMID:39433808|PMID:39533303
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1321976	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:28492532|PMID:37091313
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310842	Morc2	MORC family CW-type zinc finger 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1310844	Dusp10	dual specificity phosphatase 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310844	Dusp10	dual specificity phosphatase 10	gene	DOID:10534	stomach cancer		ISO	RGD:1321979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310844	Dusp10	dual specificity phosphatase 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310844	Dusp10	dual specificity phosphatase 10	gene	DOID:1115	sarcoma		ISO	RGD:1321979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310844	Dusp10	dual specificity phosphatase 10	gene	DOID:1909	melanoma		ISO	RGD:1321979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310844	Dusp10	dual specificity phosphatase 10	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1321979	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1310844	Dusp10	dual specificity phosphatase 10	gene	DOID:3275	thymoma		ISO	RGD:1321979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310844	Dusp10	dual specificity phosphatase 10	gene	DOID:4989	pancreatitis		IEP		D	RGD:2301725|PMID:11027531	20081030	RGD		mRNA:increased expression:pancreas	
1310844	Dusp10	dual specificity phosphatase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310844	Dusp10	dual specificity phosphatase 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310844	Dusp10	dual specificity phosphatase 10	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1321980	D	RGD:7775013|PMID:15306813	20131230	RGD			
1310844	Dusp10	dual specificity phosphatase 10	gene	DOID:9005372	Inflammation		ISO	RGD:1321979	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:17151092
1310844	Dusp10	dual specificity phosphatase 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310845	Efr3b	EFR3 homolog B	gene	DOID:1324	lung cancer		ISO	RGD:1602224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310845	Efr3b	EFR3 homolog B	gene	DOID:3275	thymoma		ISO	RGD:1602224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310845	Efr3b	EFR3 homolog B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310845	Efr3b	EFR3 homolog B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310845	Efr3b	EFR3 homolog B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310846	Slc26a7	solute carrier family 26 member 7	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1321983	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism | ClinVar Annotator: match by term: congenital hypothyroidism	PMID:25741868
1310846	Slc26a7	solute carrier family 26 member 7	gene	DOID:0050328	congenital hypothyroidism		ISS	RGD:1321984	D	RGD:13592920	20220630	MouseDO			
1310846	Slc26a7	solute carrier family 26 member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310846	Slc26a7	solute carrier family 26 member 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310846	Slc26a7	solute carrier family 26 member 7	gene	DOID:1909	melanoma		ISO	RGD:1321983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310846	Slc26a7	solute carrier family 26 member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1321983	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310846	Slc26a7	solute carrier family 26 member 7	gene	DOID:5419	schizophrenia		ISO	RGD:1321983	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1310846	Slc26a7	solute carrier family 26 member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310846	Slc26a7	solute carrier family 26 member 7	gene	DOID:630	genetic disease		ISO	RGD:1321983	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310846	Slc26a7	solute carrier family 26 member 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310846	Slc26a7	solute carrier family 26 member 7	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:1321983	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hyperoxaluria	PMID:25741868
1310846	Slc26a7	solute carrier family 26 member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310847	Bag5	BAG cochaperone 5	gene	DOID:0081162	dilated cardiomyopathy 2F		ISO	RGD:1321985	D	RGD:7240710	20220223	OMIM			
1310847	Bag5	BAG cochaperone 5	gene	DOID:0081162	dilated cardiomyopathy 2F		ISO	RGD:1321985	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 2F | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F	PMID:25741868|PMID:35044787
1310847	Bag5	BAG cochaperone 5	gene	DOID:0081162	dilated cardiomyopathy 2F		ISS	RGD:1321986	D	RGD:13592920	20230718	MouseDO		OMIM:619747	
1310847	Bag5	BAG cochaperone 5	gene	DOID:14330	Parkinson's disease		ISO	RGD:1321985	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28348719
1310847	Bag5	BAG cochaperone 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310847	Bag5	BAG cochaperone 5	gene	DOID:630	genetic disease		ISO	RGD:1321985	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1310847	Bag5	BAG cochaperone 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310848	Gpr22	G protein-coupled receptor 22	gene	DOID:9351	diabetes mellitus		IEP		D	RGD:628374356|PMID:24937127	20251006	RGD		mRNA:altered expression:right ventricle,aorta, kidney,brain	
1310849	Ipo7	importin 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310849	Ipo7	importin 7	gene	DOID:10534	stomach cancer		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310849	Ipo7	importin 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310849	Ipo7	importin 7	gene	DOID:12336	male infertility		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:31690835
1310849	Ipo7	importin 7	gene	DOID:1324	lung cancer		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310849	Ipo7	importin 7	gene	DOID:1909	melanoma		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310849	Ipo7	importin 7	gene	DOID:3070	high grade glioma		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310849	Ipo7	importin 7	gene	DOID:4362	cervical cancer		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310849	Ipo7	importin 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310849	Ipo7	importin 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310849	Ipo7	importin 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1321989	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310849	Ipo7	importin 7	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1321989	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1310849	Ipo7	importin 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310849	Ipo7	importin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310849	Ipo7	importin 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310849	Ipo7	importin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310849	Ipo7	importin 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310850	Asb18	ankyrin repeat and SOCS box-containing 18	gene	DOID:4362	cervical cancer		ISO	RGD:1602398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310850	Asb18	ankyrin repeat and SOCS box-containing 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1602398	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310850	Asb18	ankyrin repeat and SOCS box-containing 18	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310853	Phf11	PHD finger protein 11	gene	DOID:0080815	childhood-onset asthma	susceptibility	ISO	RGD:1321995	D	RGD:4891923|PMID:17702965	20260212	RGD		DNA:SNPs: :multiple	
1310853	Phf11	PHD finger protein 11	gene	DOID:1205	allergic disease		ISO	RGD:1321995	D	RGD:632518397|PMID:20717939	20260212	RGD		DNA:SNP, haplotype: :rs3794379	
1310853	Phf11	PHD finger protein 11	gene	DOID:2841	asthma		ISO	RGD:1321995	D	RGD:632518397|PMID:20717939	20260212	RGD		DNA:SNPs, haplotype:intron:rs7996994, rs7323716	
1310853	Phf11	PHD finger protein 11	gene	DOID:2841	asthma	no_association	ISO	RGD:1321995	D	RGD:632518402|PMID:19386584	20260212	RGD		DNA:SNPs: :multiple	
1310853	Phf11	PHD finger protein 11	gene	DOID:2841	asthma	severity	ISO	RGD:1321995	D	RGD:632518413|PMID:12754510	20260213	RGD		DNA:SNP:intron	
1310853	Phf11	PHD finger protein 11	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1321995	D	RGD:4892275|PMID:19672052	20260212	RGD		DNA:SNPs, haplotype:3' utr:rs1046295, rs16659	
1310853	Phf11	PHD finger protein 11	gene	DOID:3310	atopic dermatitis		ISO	RGD:1321995	D	RGD:632518401|PMID:15674390	20260212	RGD		DNA:SNPs:intron, 3' utr:rs2247119, rs1046295	
1310853	Phf11	PHD finger protein 11	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1321995	D	RGD:713520016|PMID:29796116	20260512	RGD		DNA:hypermethylation	
1310854	Spsb2	splA/ryanodine receptor domain and SOCS box containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:35315959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310854	Spsb2	splA/ryanodine receptor domain and SOCS box containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:35315959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310854	Spsb2	splA/ryanodine receptor domain and SOCS box containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:35315959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310854	Spsb2	splA/ryanodine receptor domain and SOCS box containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:35315959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310854	Spsb2	splA/ryanodine receptor domain and SOCS box containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:35315959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310854	Spsb2	splA/ryanodine receptor domain and SOCS box containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:35315959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310855	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310855	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310855	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:0080600	COVID-19		ISO	RGD:1605047	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310855	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310855	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605047	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310855	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310855	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310855	Esrp2	epithelial splicing regulatory protein 2	gene	DOID:9296	cleft lip		ISO	RGD:1605047	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate	
1310856	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310856	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:10534	stomach cancer		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310856	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310856	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:4362	cervical cancer		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310856	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1321999	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310856	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310856	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310856	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310856	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310856	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310856	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310856	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310856	Zfyve9	zinc finger FYVE-type containing 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310857	Coq5	coenzyme Q5, methyltransferase	gene	DOID:0080600	COVID-19		ISO	RGD:1604266	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310857	Coq5	coenzyme Q5, methyltransferase	gene	DOID:0112138	primary coenzyme Q10 deficiency 9		ISO	RGD:1604266	D	RGD:7240710	20200930	OMIM			
1310857	Coq5	coenzyme Q5, methyltransferase	gene	DOID:0112138	primary coenzyme Q10 deficiency 9		ISO	RGD:1604266	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COQ5-related condition | ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9	PMID:21937992|PMID:25741868|PMID:28492532
1310857	Coq5	coenzyme Q5, methyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1604266	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1310857	Coq5	coenzyme Q5, methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1604266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310857	Coq5	coenzyme Q5, methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1604266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310857	Coq5	coenzyme Q5, methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310857	Coq5	coenzyme Q5, methyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310858	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310858	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310858	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310858	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310858	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310858	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:1909	melanoma		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310858	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310858	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310858	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310858	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310858	Grsf1	G-rich RNA sequence binding factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310859	Ushbp1	USH1 protein network component harmonin binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310859	Ushbp1	USH1 protein network component harmonin binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310859	Ushbp1	USH1 protein network component harmonin binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1322004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310859	Ushbp1	USH1 protein network component harmonin binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1322004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310859	Ushbp1	USH1 protein network component harmonin binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1322004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310859	Ushbp1	USH1 protein network component harmonin binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310861	Fam216a	family with sequence similarity 216, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310861	Fam216a	family with sequence similarity 216, member A	gene	DOID:1115	sarcoma		ISO	RGD:1607038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310861	Fam216a	family with sequence similarity 216, member A	gene	DOID:4362	cervical cancer		ISO	RGD:1607038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310861	Fam216a	family with sequence similarity 216, member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1607038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310861	Fam216a	family with sequence similarity 216, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310862	Crebrf	CREB3 regulatory factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310862	Crebrf	CREB3 regulatory factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310862	Crebrf	CREB3 regulatory factor	gene	DOID:1909	melanoma		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310862	Crebrf	CREB3 regulatory factor	gene	DOID:2394	ovarian cancer		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310862	Crebrf	CREB3 regulatory factor	gene	DOID:4362	cervical cancer		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310862	Crebrf	CREB3 regulatory factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310862	Crebrf	CREB3 regulatory factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310862	Crebrf	CREB3 regulatory factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310862	Crebrf	CREB3 regulatory factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310862	Crebrf	CREB3 regulatory factor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310862	Crebrf	CREB3 regulatory factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310862	Crebrf	CREB3 regulatory factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310863	Slc39a3	solute carrier family 39 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310864	Lyve1	lymphatic vessel endothelial hyaluronan receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322012	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1310865	Krt7	keratin 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310865	Krt7	keratin 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322014	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310865	Krt7	keratin 7	gene	DOID:10534	stomach cancer		ISO	RGD:1322014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310865	Krt7	keratin 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310865	Krt7	keratin 7	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1322014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21681009
1310865	Krt7	keratin 7	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1322015	D	RGD:30310231|PMID:23919993	20200624	RGD		protein:increased expression:lung (mouse)	
1310865	Krt7	keratin 7	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:1322014	D	RGD:2317307|PMID:19260470	20100326	RGD			
1310865	Krt7	keratin 7	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1322014	D	RGD:151665759|PMID:29788741	20220331	RGD			
1310865	Krt7	keratin 7	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1322014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329|PMID:16927643
1310865	Krt7	keratin 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322014	D	RGD:2317308|PMID:18393293	20100326	RGD			
1310865	Krt7	keratin 7	gene	DOID:5389	oxyphilic adenoma		ISO	RGD:1322014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16927643
1310865	Krt7	keratin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310865	Krt7	keratin 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310865	Krt7	keratin 7	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1322014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19921857
1310865	Krt7	keratin 7	gene	DOID:9005233	Experimental Mammary Neoplasms		IEP		D	RGD:2317439|PMID:8570173	20100405	RGD			
1310865	Krt7	keratin 7	gene	DOID:9006395	Copper-Overload Cirrhosis		ISO	RGD:1322014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
1310865	Krt7	keratin 7	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:1322014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
1310865	Krt7	keratin 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310866	Bpifb2	BPI fold containing family B, member 2	gene	DOID:1324	lung cancer		ISO	RGD:1322016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310866	Bpifb2	BPI fold containing family B, member 2	gene	DOID:1909	melanoma		ISO	RGD:1322016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310866	Bpifb2	BPI fold containing family B, member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310866	Bpifb2	BPI fold containing family B, member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310867	Pitpnm2	phosphatidylinositol transfer protein, membrane-associated 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310867	Pitpnm2	phosphatidylinositol transfer protein, membrane-associated 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310867	Pitpnm2	phosphatidylinositol transfer protein, membrane-associated 2	gene	DOID:1909	melanoma		ISO	RGD:1322017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310867	Pitpnm2	phosphatidylinositol transfer protein, membrane-associated 2	gene	DOID:3070	high grade glioma		ISO	RGD:1322017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310867	Pitpnm2	phosphatidylinositol transfer protein, membrane-associated 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310867	Pitpnm2	phosphatidylinositol transfer protein, membrane-associated 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310867	Pitpnm2	phosphatidylinositol transfer protein, membrane-associated 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310867	Pitpnm2	phosphatidylinositol transfer protein, membrane-associated 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:10534	stomach cancer		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:1115	sarcoma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:1324	lung cancer		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:3070	high grade glioma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:4362	cervical cancer		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1601977	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310868	Engase	endo-beta-N-acetylglucosaminidase	gene	DOID:9256	colorectal cancer		ISO	RGD:1601977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310869	Mall	mal, T-cell differentiation protein-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1342796	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310870	Tmem41b	transmembrane protein 41B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310870	Tmem41b	transmembrane protein 41B	gene	DOID:10534	stomach cancer		ISO	RGD:1347999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310870	Tmem41b	transmembrane protein 41B	gene	DOID:5041	esophageal cancer		ISO	RGD:1347999	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310870	Tmem41b	transmembrane protein 41B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310870	Tmem41b	transmembrane protein 41B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310870	Tmem41b	transmembrane protein 41B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310870	Tmem41b	transmembrane protein 41B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310870	Tmem41b	transmembrane protein 41B	gene	DOID:9256	colorectal cancer		ISO	RGD:1347999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310872	Tmprss13	transmembrane serine protease 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310872	Tmprss13	transmembrane serine protease 13	gene	DOID:1324	lung cancer		ISO	RGD:1604778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310872	Tmprss13	transmembrane serine protease 13	gene	DOID:4362	cervical cancer		ISO	RGD:1604778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310872	Tmprss13	transmembrane serine protease 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604778	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310872	Tmprss13	transmembrane serine protease 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310872	Tmprss13	transmembrane serine protease 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310872	Tmprss13	transmembrane serine protease 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310872	Tmprss13	transmembrane serine protease 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310873	Rasl10b	RAS-like, family 10, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310873	Rasl10b	RAS-like, family 10, member B	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1322024	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:10534	stomach cancer		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:1115	sarcoma		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:1324	lung cancer		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:1909	melanoma		ISO	RGD:1322026	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:1909	melanoma		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:3565	meningioma		ISO	RGD:1322026	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21804547
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1322026	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:8864	acute monocytic leukemia		ISO	RGD:1322026	D	RGD:1598771|PMID:7662954	20061219	RGD			
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322026	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322026	D	RGD:7240710	20190315	OMIM			
1310874	Mllt10	MLLT10, histone lysine methyltransferase DOT1L cofactor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322026	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1310875	Trabd	TraB domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1601961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310875	Trabd	TraB domain containing	gene	DOID:1909	melanoma		ISO	RGD:1601961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310875	Trabd	TraB domain containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310875	Trabd	TraB domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1601961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310875	Trabd	TraB domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1601961	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310875	Trabd	TraB domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310875	Trabd	TraB domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310877	Saysd1	SAYSVFN motif domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310877	Saysd1	SAYSVFN motif domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310879	Mthfd2l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310879	Mthfd2l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	gene	DOID:1909	melanoma		ISO	RGD:1345478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310879	Mthfd2l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310879	Mthfd2l	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310880	Prss22	serine protease 22	gene	DOID:10283	prostate cancer		ISO	RGD:1322033	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310880	Prss22	serine protease 22	gene	DOID:10283	prostate cancer		ISO	RGD:1322033	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310880	Prss22	serine protease 22	gene	DOID:1324	lung cancer		ISO	RGD:1322033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310880	Prss22	serine protease 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310880	Prss22	serine protease 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310880	Prss22	serine protease 22	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310881	Terf2	telomeric repeat binding factor 2	gene	DOID:0050427	xeroderma pigmentosum		ISS	RGD:1322036	D	RGD:13592920	20240425	MouseDO			
1310881	Terf2	telomeric repeat binding factor 2	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1322035	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17643074
1310881	Terf2	telomeric repeat binding factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310881	Terf2	telomeric repeat binding factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310881	Terf2	telomeric repeat binding factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310881	Terf2	telomeric repeat binding factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310881	Terf2	telomeric repeat binding factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322035	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310881	Terf2	telomeric repeat binding factor 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1310881	Terf2	telomeric repeat binding factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310883	Fpr1	formyl peptide receptor 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1310883	Fpr1	formyl peptide receptor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1322039	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310883	Fpr1	formyl peptide receptor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1322039	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310883	Fpr1	formyl peptide receptor 1	gene	DOID:11162	respiratory failure		ISO	RGD:1322039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
1310883	Fpr1	formyl peptide receptor 1	gene	DOID:11830	myopia		ISO	RGD:1322039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1310883	Fpr1	formyl peptide receptor 1	gene	DOID:1483	gingival disease		ISO	RGD:1322039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gingival disease | ClinVar Annotator: match by term: Gingival disorder	PMID:17927965|PMID:25741868|PMID:28492532
1310883	Fpr1	formyl peptide receptor 1	gene	DOID:2841	asthma		ISO	RGD:1322039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1310883	Fpr1	formyl peptide receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310883	Fpr1	formyl peptide receptor 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1322039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1310883	Fpr1	formyl peptide receptor 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1322039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
1310883	Fpr1	formyl peptide receptor 1	gene	DOID:9834	hyperopia		ISO	RGD:1322039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1310884	Barx1	BARX homeobox 1	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:1322041	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121790
1310884	Barx1	BARX homeobox 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322041	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310884	Barx1	BARX homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310885	Diablo	diablo, IAP-binding mitochondrial protein	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:1322043	D	RGD:8554872	20240820	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss	PMID:25741868
1310885	Diablo	diablo, IAP-binding mitochondrial protein	gene	DOID:0110585	autosomal dominant nonsyndromic deafness 64		ISO	RGD:1322043	D	RGD:7240710	20140911	OMIM			
1310885	Diablo	diablo, IAP-binding mitochondrial protein	gene	DOID:0110585	autosomal dominant nonsyndromic deafness 64		ISO	RGD:1322043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 64 | ClinVar Annotator: match by term: DIABLO-related condition	PMID:21722859|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386
1310885	Diablo	diablo, IAP-binding mitochondrial protein	gene	DOID:12858	Huntington's disease		ISO	RGD:1322043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12930891
1310885	Diablo	diablo, IAP-binding mitochondrial protein	gene	DOID:2316	brain ischemia		ISO	RGD:1322043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11756504
1310885	Diablo	diablo, IAP-binding mitochondrial protein	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1322043	D	RGD:13434909|PMID:16231180	20171004	RGD		mRNA:increased expression:lung	
1310885	Diablo	diablo, IAP-binding mitochondrial protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310885	Diablo	diablo, IAP-binding mitochondrial protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310885	Diablo	diablo, IAP-binding mitochondrial protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1322043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:17718901
1310885	Diablo	diablo, IAP-binding mitochondrial protein	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1322043	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30664745
1310885	Diablo	diablo, IAP-binding mitochondrial protein	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1322043	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14998631
1310885	Diablo	diablo, IAP-binding mitochondrial protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:1909	melanoma		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:3275	thymoma		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1322045	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:6039	uveal melanoma		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1322045	D	RGD:11554173	20190514	CTD		CTD Direct Evidence: marker/mechanism	
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1322045	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3	PMID:15294872|PMID:25741868|PMID:28940097
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:7188	autoimmune thyroiditis	susceptibility	ISO	RGD:1322045	D	RGD:7240710	20190502	OMIM			
1310886	Zfat	zinc finger and AT hook domain containing	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310887	Miga2	mitoguardin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310887	Miga2	mitoguardin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310887	Miga2	mitoguardin 2	gene	DOID:1324	lung cancer		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310887	Miga2	mitoguardin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310887	Miga2	mitoguardin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310887	Miga2	mitoguardin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310887	Miga2	mitoguardin 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322047	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310887	Miga2	mitoguardin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310887	Miga2	mitoguardin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310888	Aggf1	angiogenic factor with G patch and FHA domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310888	Aggf1	angiogenic factor with G patch and FHA domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310888	Aggf1	angiogenic factor with G patch and FHA domains 1	gene	DOID:11193	syndactyly		ISO	RGD:1350142	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:25741868
1310888	Aggf1	angiogenic factor with G patch and FHA domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310888	Aggf1	angiogenic factor with G patch and FHA domains 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1350142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310888	Aggf1	angiogenic factor with G patch and FHA domains 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310888	Aggf1	angiogenic factor with G patch and FHA domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350142	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310888	Aggf1	angiogenic factor with G patch and FHA domains 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310888	Aggf1	angiogenic factor with G patch and FHA domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310888	Aggf1	angiogenic factor with G patch and FHA domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310888	Aggf1	angiogenic factor with G patch and FHA domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310888	Aggf1	angiogenic factor with G patch and FHA domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310888	Aggf1	angiogenic factor with G patch and FHA domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310889	Mad2l1	mitotic arrest deficient 2 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310889	Mad2l1	mitotic arrest deficient 2 like 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1322050	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1310889	Mad2l1	mitotic arrest deficient 2 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1322050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310889	Mad2l1	mitotic arrest deficient 2 like 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1322050	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:18691855
1310889	Mad2l1	mitotic arrest deficient 2 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310889	Mad2l1	mitotic arrest deficient 2 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310889	Mad2l1	mitotic arrest deficient 2 like 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310889	Mad2l1	mitotic arrest deficient 2 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322050	D	RGD:11554173	20250204	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560|PMID:39316419
1310889	Mad2l1	mitotic arrest deficient 2 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310890	Ptgir	prostaglandin I2 receptor	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1322052	D	RGD:632645229|PMID:28306170	20260302	RGD		mRNA:increased expression:platelet	
1310890	Ptgir	prostaglandin I2 receptor	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:1322052	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20485159
1310890	Ptgir	prostaglandin I2 receptor	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:1322052	D	RGD:629006548|PMID:17496729	20260302	RGD		associated with asthma;DNA:SNP, haplotype:exon:1915T>C (rs1126510)	
1310890	Ptgir	prostaglandin I2 receptor	gene	DOID:114	heart disease		ISO	RGD:1322052	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16154102
1310890	Ptgir	prostaglandin I2 receptor	gene	DOID:3827	congenital diaphragmatic hernia		IEP		D	RGD:713349442|PMID:29115963	20260511	RGD		mRNA:increased expression:lung	
1310890	Ptgir	prostaglandin I2 receptor	gene	DOID:9001820	Pulmonary Arterial Hypertension	treatment	IDA		D	RGD:713349447|PMID:18552131	20260511	RGD			
1310890	Ptgir	prostaglandin I2 receptor	gene	DOID:9001820	Pulmonary Arterial Hypertension	treatment	ISO	RGD:1322052	D	RGD:713349439|PMID:22362844	20260511	RGD			
1310890	Ptgir	prostaglandin I2 receptor	gene	DOID:9002457	Experimental Arthritis	disease_progression	IEP		D	RGD:10043377|PMID:11207665	20260326	RGD		mRNA:increased expression:ankle joint, synovial membrane of synovial joint	
1310890	Ptgir	prostaglandin I2 receptor	gene	DOID:9002669	Hypoxia		ISO	RGD:1322053	D	RGD:713349441|PMID:40504501	20260511	RGD		protein:decreased expression:lung, pulmonary artery	
1310890	Ptgir	prostaglandin I2 receptor	gene	DOID:9003566	Mesothelioma		ISO	RGD:1322052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1310890	Ptgir	prostaglandin I2 receptor	gene	DOID:9006102	Right Ventricular Hypertrophy	treatment	IDA		D	RGD:713349446|PMID:33057388	20260511	RGD		associated with Pulmonary Arterial Hypertension	
1310890	Ptgir	prostaglandin I2 receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310891	Man1a1	mannosidase, alpha, class 1A, member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310891	Man1a1	mannosidase, alpha, class 1A, member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322054	D	RGD:8554872	20150310	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:24824130
1310891	Man1a1	mannosidase, alpha, class 1A, member 1	gene	DOID:1115	sarcoma		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310891	Man1a1	mannosidase, alpha, class 1A, member 1	gene	DOID:1324	lung cancer		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310891	Man1a1	mannosidase, alpha, class 1A, member 1	gene	DOID:3275	thymoma		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310891	Man1a1	mannosidase, alpha, class 1A, member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310891	Man1a1	mannosidase, alpha, class 1A, member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310891	Man1a1	mannosidase, alpha, class 1A, member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310891	Man1a1	mannosidase, alpha, class 1A, member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310891	Man1a1	mannosidase, alpha, class 1A, member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310893	Tstd2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310893	Tstd2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310893	Tstd2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310893	Tstd2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310893	Tstd2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310893	Tstd2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310893	Tstd2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310893	Tstd2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310893	Tstd2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310893	Tstd2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310894	Narf	nuclear prelamin A recognition factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605690	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310894	Narf	nuclear prelamin A recognition factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310894	Narf	nuclear prelamin A recognition factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310894	Narf	nuclear prelamin A recognition factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310894	Narf	nuclear prelamin A recognition factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1605690	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310894	Narf	nuclear prelamin A recognition factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310894	Narf	nuclear prelamin A recognition factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310895	Kbtbd3	kelch repeat and BTB domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310895	Kbtbd3	kelch repeat and BTB domain containing 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310895	Kbtbd3	kelch repeat and BTB domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310897	Pmm1	phosphomannomutase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310897	Pmm1	phosphomannomutase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310897	Pmm1	phosphomannomutase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310897	Pmm1	phosphomannomutase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310897	Pmm1	phosphomannomutase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310897	Pmm1	phosphomannomutase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:9070917
1310897	Pmm1	phosphomannomutase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310897	Pmm1	phosphomannomutase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322066	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:0060058	lymphoma		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322066	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:1909	melanoma		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322066	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1322066	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322066	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322066	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322066	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322066	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322066	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310898	Scml4	Scm polycomb group protein like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310899	Fcf1	Fcf1 rRNA-processing protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310899	Fcf1	Fcf1 rRNA-processing protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310899	Fcf1	Fcf1 rRNA-processing protein	gene	DOID:4362	cervical cancer		ISO	RGD:1322068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310899	Fcf1	Fcf1 rRNA-processing protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310899	Fcf1	Fcf1 rRNA-processing protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310899	Fcf1	Fcf1 rRNA-processing protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310899	Fcf1	Fcf1 rRNA-processing protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310900	Mtpap	mitochondrial poly(A) polymerase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310900	Mtpap	mitochondrial poly(A) polymerase	gene	DOID:0050943	spastic ataxia 4		ISO	RGD:1322070	D	RGD:7240710	20130221	OMIM			
1310900	Mtpap	mitochondrial poly(A) polymerase	gene	DOID:0050943	spastic ataxia 4		ISO	RGD:1322070	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4	PMID:20970105|PMID:24651433|PMID:25741868|PMID:26319014|PMID:26467025|PMID:28492532|PMID:31779033|PMID:40174712
1310900	Mtpap	mitochondrial poly(A) polymerase	gene	DOID:0050952	spastic ataxia		ISO	RGD:1322070	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
1310900	Mtpap	mitochondrial poly(A) polymerase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310900	Mtpap	mitochondrial poly(A) polymerase	gene	DOID:1115	sarcoma		ISO	RGD:1322070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310900	Mtpap	mitochondrial poly(A) polymerase	gene	DOID:1909	melanoma		ISO	RGD:1322070	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1310900	Mtpap	mitochondrial poly(A) polymerase	gene	DOID:1909	melanoma		ISO	RGD:1322070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310900	Mtpap	mitochondrial poly(A) polymerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310900	Mtpap	mitochondrial poly(A) polymerase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310900	Mtpap	mitochondrial poly(A) polymerase	gene	DOID:630	genetic disease		ISO	RGD:1322070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:40174712
1310900	Mtpap	mitochondrial poly(A) polymerase	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322070	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1310900	Mtpap	mitochondrial poly(A) polymerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310900	Mtpap	mitochondrial poly(A) polymerase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310901	Dpp8	dipeptidylpeptidase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310901	Dpp8	dipeptidylpeptidase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310901	Dpp8	dipeptidylpeptidase 8	gene	DOID:1909	melanoma		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310901	Dpp8	dipeptidylpeptidase 8	gene	DOID:3275	thymoma		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310901	Dpp8	dipeptidylpeptidase 8	gene	DOID:4362	cervical cancer		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310901	Dpp8	dipeptidylpeptidase 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1322072	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310901	Dpp8	dipeptidylpeptidase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310901	Dpp8	dipeptidylpeptidase 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310901	Dpp8	dipeptidylpeptidase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310901	Dpp8	dipeptidylpeptidase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1310901	Dpp8	dipeptidylpeptidase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310902	Nudt12	nudix hydrolase 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310902	Nudt12	nudix hydrolase 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310902	Nudt12	nudix hydrolase 12	gene	DOID:10534	stomach cancer		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310902	Nudt12	nudix hydrolase 12	gene	DOID:1909	melanoma		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310902	Nudt12	nudix hydrolase 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1322074	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310902	Nudt12	nudix hydrolase 12	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310902	Nudt12	nudix hydrolase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310902	Nudt12	nudix hydrolase 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310903	Plcd3	phospholipase C, delta 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310903	Plcd3	phospholipase C, delta 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310903	Plcd3	phospholipase C, delta 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310903	Plcd3	phospholipase C, delta 3	gene	DOID:1115	sarcoma		ISO	RGD:1322076	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310903	Plcd3	phospholipase C, delta 3	gene	DOID:1324	lung cancer		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310903	Plcd3	phospholipase C, delta 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310903	Plcd3	phospholipase C, delta 3	gene	DOID:4362	cervical cancer		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310903	Plcd3	phospholipase C, delta 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322076	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310903	Plcd3	phospholipase C, delta 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310903	Plcd3	phospholipase C, delta 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310903	Plcd3	phospholipase C, delta 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:0080690	RASopathy		ISS	RGD:1553608	D	RGD:13592920	20221006	MouseDO			
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:13938	amenorrhea		ISO	RGD:1322078	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322078	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322078	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310904	Rreb1	ras responsive element binding protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310905	Emc4	ER membrane protein complex subunit 4	gene	DOID:0060058	lymphoma		ISO	RGD:1605682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310905	Emc4	ER membrane protein complex subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1605682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310905	Emc4	ER membrane protein complex subunit 4	gene	DOID:1909	melanoma		ISO	RGD:1605682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT	
1310905	Emc4	ER membrane protein complex subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310905	Emc4	ER membrane protein complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310905	Emc4	ER membrane protein complex subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310905	Emc4	ER membrane protein complex subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:0050848	obstructive sleep apnea	exacerbates	ISO	RGD:1322081	D	RGD:629107243|PMID:38104368	20251204	RGD		protein:increased expression:peripheral blood mononuclear cells	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:0051062	ischemic stroke		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	PMID:18309045|PMID:18372902|PMID:18505686|PMID:18545701|PMID:19224587|PMID:19760257|PMID:20555136|PMID:22456481|PMID:22645277|PMID:23327806|PMID:24143176|PMID:25442115|PMID:25741868|PMID:26883171|PMID:28286471|PMID:28335005|PMID:28430856|PMID:28492532|PMID:28889094|PMID:31996268|PMID:38139294
1310906	Tardbp	TAR DNA binding protein	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1322081	D	RGD:11554173	20200331	CTD		CTD Direct Evidence: marker/mechanism	PMID:24477737
1310906	Tardbp	TAR DNA binding protein	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1322081	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant	PMID:19411082|PMID:20082726|PMID:20675015|PMID:20708823|PMID:22575358|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1310906	Tardbp	TAR DNA binding protein	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1322081	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:19411082|PMID:20082726|PMID:20675015|PMID:20708823|PMID:22575358|PMID:26467025|PMID:28492532
1310906	Tardbp	TAR DNA binding protein	gene	DOID:0060201	amyotrophic lateral sclerosis type 10		ISO	RGD:1322081	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:0060201	amyotrophic lateral sclerosis type 10		ISO	RGD:1322081	D	RGD:7240710	20130425	OMIM			
1310906	Tardbp	TAR DNA binding protein	gene	DOID:0060201	amyotrophic lateral sclerosis type 10		ISO	RGD:1322081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | ClinVar Annotator: match by term: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED | ClinVar Annotator: match by term: TARDBP-related condition	PMID:17576681|PMID:18288693|PMID:18309045|PMID:18372902|PMID:18396105|PMID:18505686|PMID:18545701|PMID:18779421|PMID:18802454|PMID:18931000|PMID:19224587|PMID:19228676|PMID:19350673|PMID:19465477|PMID:19515851|PMID:19618195|PMID:19655382|PMID:19714537|PMID:19760257|PMID:19833869|PMID:19864663|PMID:19959528|PMID:20031275|PMID:20154440|PMID:20301761|PMID:20472325|PMID:20555136|PMID:20558945|PMID:20600671|PMID:20645878|PMID:20697052|PMID:20708823|PMID:20806063|PMID:21123567|PMID:21173160|PMID:21220647|PMID:21651514|PMID:21666678|PMID:21830990|PMID:21943958|PMID:22121224|PMID:22406069|PMID:22456481|PMID:22539580|PMID:22645277|PMID:22722621|PMID:23100398|PMID:23231971|PMID:23235148|PMID:23327806|PMID:23401527|PMID:23692129|PMID:23721326|PMID:23827948|PMID:23881933|PMID:24117534|PMID:24143176|PMID:24237396|PMID:24440310|PMID:24507191|PMID:25090004|PMID:25138285|PMID:25382069|PMID:25408367|PMID:25442115|PMID:25681989|PMID:25741868|PMID:25792239|PMID:25792726|PMID:25913742|PMID:26467025|PMID:26581115|PMID:26883171|PMID:27978769|PMID:28089114|PMID:28286471|PMID:28334913|PMID:28335005|PMID:28430856|PMID:28492532|PMID:28573484|PMID:28705014|PMID:28709720|PMID:28889094|PMID:29091718|PMID:29411640|PMID:29630989|PMID:29801890|PMID:29895397|PMID:30461104|PMID:30586030|PMID:30773994|PMID:31124595|PMID:31866807|PMID:31964415|PMID:31996268|PMID:32166880|PMID:32253937|PMID:32409511|PMID:32462798|PMID:32579787|PMID:32843152|PMID:32951934|PMID:33159016|PMID:34130995|PMID:34175147|PMID:34333853|PMID:35239007|PMID:35932023|PMID:36247987|PMID:36527522|PMID:36732882|PMID:37046025|PMID:37131250|PMID:37223130|PMID:38139294|PMID:38261982|PMID:9536098
1310906	Tardbp	TAR DNA binding protein	gene	DOID:0060201	amyotrophic lateral sclerosis type 10		ISS	RGD:1617357	D	RGD:13592920	20230718	MouseDO		OMIM:612069	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:0060486	Perry syndrome		ISO	RGD:1322081	D	RGD:640476631|PMID:28789478	20260317	RGD		protein:increased expression:neural tissue	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:0060672	frontotemporal dementia 2		ISS	RGD:1617357	D	RGD:13592920	20240425	MouseDO		OMIM:607485	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:0080855	Parkinsonism		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:18309045|PMID:18372902|PMID:18505686|PMID:18545701|PMID:19224587|PMID:19760257|PMID:20555136|PMID:22456481|PMID:22645277|PMID:23327806|PMID:24143176|PMID:25442115|PMID:25741868|PMID:26883171|PMID:28286471|PMID:28335005|PMID:28430856|PMID:28492532|PMID:28889094|PMID:31996268|PMID:38139294
1310906	Tardbp	TAR DNA binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:10579	leukodystrophy		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:18802454|PMID:23692129|PMID:25408367|PMID:25681989|PMID:25741868|PMID:26581115|PMID:28492532|PMID:30773994|PMID:32409511|PMID:32843152|PMID:33159016
1310906	Tardbp	TAR DNA binding protein	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1322081	D	RGD:5687139|PMID:21376022	20120201	RGD		protein:increased expression, phosphorylation:motor cortex	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1617357	D	RGD:5687178|PMID:21070634	20120203	RGD		protein:increased expression:brain	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:11870	Pick's disease		ISO	RGD:1322081	D	RGD:5687194|PMID:18091558	20120206	RGD			
1310906	Tardbp	TAR DNA binding protein	gene	DOID:12217	Lewy body dementia		ISO	RGD:1322081	D	RGD:5687180|PMID:20669025	20120203	RGD			
1310906	Tardbp	TAR DNA binding protein	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1322081	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:33479441
1310906	Tardbp	TAR DNA binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:1389	polyneuropathy		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:18802454|PMID:23692129|PMID:25408367|PMID:25681989|PMID:25741868|PMID:26581115|PMID:28492532|PMID:30773994|PMID:32409511|PMID:32843152|PMID:33159016
1310906	Tardbp	TAR DNA binding protein	gene	DOID:14330	Parkinson's disease		ISO	RGD:1322081	D	RGD:5687172|PMID:21667065	20120202	RGD		DNA:mutation:cds:p.A382T (human)	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:14330	Parkinson's disease		ISO	RGD:1322081	D	RGD:5687183|PMID:20551689	20120203	RGD			
1310906	Tardbp	TAR DNA binding protein	gene	DOID:231	motor neuron disease		ISO	RGD:1322081	D	RGD:5687193|PMID:18288693	20120206	RGD		DNA:missense mutation:cds:p.A315T(human)	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:231	motor neuron disease		ISO	RGD:1322081	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Motor neuron disease	PMID:18372902|PMID:18931000|PMID:19224587|PMID:19760257|PMID:23881933|PMID:25442115|PMID:25741868|PMID:28089114|PMID:28430856|PMID:28492532|PMID:35871544|PMID:37046025|PMID:37223130
1310906	Tardbp	TAR DNA binding protein	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1322081	D	RGD:11554173	20210601	CTD		CTD Direct Evidence: marker/mechanism	PMID:18372902|PMID:21167262|PMID:22879928|PMID:23104007|PMID:23891805|PMID:24019256|PMID:24252504|PMID:26980269|PMID:28122516|PMID:28478440|PMID:29419416|PMID:30157956
1310906	Tardbp	TAR DNA binding protein	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1322081	D	RGD:5687134|PMID:21752789	20120201	RGD			
1310906	Tardbp	TAR DNA binding protein	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1322081	D	RGD:5687157|PMID:18309045	20120202	RGD		DNA:mutation:cds:p.M337V(human)	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1322081	D	RGD:5687158|PMID:17023659	20120202	RGD		protein:increased phosphorylation:brain	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1322081	D	RGD:5687173|PMID:21651514	20120202	RGD		DNA:mutation:cds:p.G295S(human)	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1322081	D	RGD:5687192|PMID:18372902	20120206	RGD		DNA:missense mutations:cds:	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1322081	D	RGD:640476629|PMID:20877346	20260317	RGD		human construct in rat model	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1322081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:18309045|PMID:19465477|PMID:20154440|PMID:20600671|PMID:23401527|PMID:23827948|PMID:24143176|PMID:24507191|PMID:25741868|PMID:28430856|PMID:28492532|PMID:28709720
1310906	Tardbp	TAR DNA binding protein	gene	DOID:332	amyotrophic lateral sclerosis	disease_progression	ISO	RGD:1322081	D	RGD:5687137|PMID:21998667	20120201	RGD			
1310906	Tardbp	TAR DNA binding protein	gene	DOID:3429	inclusion body myositis		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inclusion body myositis	PMID:25741868
1310906	Tardbp	TAR DNA binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1322081	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:535	sleep disorder		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:18309045|PMID:18372902|PMID:18505686|PMID:18545701|PMID:19224587|PMID:19760257|PMID:20555136|PMID:22456481|PMID:22645277|PMID:23327806|PMID:24143176|PMID:25442115|PMID:25741868|PMID:26883171|PMID:28286471|PMID:28335005|PMID:28430856|PMID:28492532|PMID:28889094|PMID:31996268|PMID:38139294
1310906	Tardbp	TAR DNA binding protein	gene	DOID:539	ophthalmoplegia		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ophthalmoparesis	PMID:18309045|PMID:18372902|PMID:18505686|PMID:18545701|PMID:19224587|PMID:19760257|PMID:20555136|PMID:22456481|PMID:22645277|PMID:23327806|PMID:24143176|PMID:25442115|PMID:25741868|PMID:26883171|PMID:28286471|PMID:28335005|PMID:28430856|PMID:28492532|PMID:28889094|PMID:31996268|PMID:38139294
1310906	Tardbp	TAR DNA binding protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:630	genetic disease		ISO	RGD:1322081	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18309045|PMID:18372902|PMID:18505686|PMID:18545701|PMID:19224587|PMID:19515851|PMID:19760257|PMID:20555136|PMID:20645878|PMID:21120508|PMID:21173160|PMID:22121224|PMID:22456481|PMID:22539580|PMID:22645277|PMID:22722621|PMID:23100398|PMID:23327806|PMID:24143176|PMID:24325798|PMID:25442115|PMID:25741868|PMID:26467025|PMID:26883171|PMID:27978769|PMID:28286471|PMID:28335005|PMID:28430856|PMID:28492532|PMID:28889094|PMID:29091718|PMID:31996268|PMID:33589474|PMID:34162492|PMID:38139294
1310906	Tardbp	TAR DNA binding protein	gene	DOID:678	progressive supranuclear palsy		ISO	RGD:1322081	D	RGD:5687185|PMID:20512649	20120203	RGD			
1310906	Tardbp	TAR DNA binding protein	gene	DOID:7319	axonal neuropathy		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor axonal neuropathy	PMID:18802454|PMID:23692129|PMID:25408367|PMID:25681989|PMID:25741868|PMID:26581115|PMID:28492532|PMID:30773994|PMID:32409511|PMID:32843152|PMID:33159016
1310906	Tardbp	TAR DNA binding protein	gene	DOID:767	muscular atrophy		ISO	RGD:1322081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:18309045|PMID:19465477|PMID:20154440|PMID:20600671|PMID:23401527|PMID:23827948|PMID:24143176|PMID:24507191|PMID:25741868|PMID:28430856|PMID:28492532|PMID:28709720
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9000998	Brain Injuries		ISO	RGD:1322081	D	RGD:5687195|PMID:22101322	20120206	RGD			
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9001722	Dysarthria		ISO	RGD:1322081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:18309045|PMID:19465477|PMID:20154440|PMID:20600671|PMID:23401527|PMID:23827948|PMID:24143176|PMID:24507191|PMID:25741868|PMID:28430856|PMID:28492532|PMID:28709720
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9001745	Fasciculation		ISO	RGD:1322081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fasciculations	PMID:18309045|PMID:18802454|PMID:19465477|PMID:20154440|PMID:20600671|PMID:23401527|PMID:23692129|PMID:23827948|PMID:24143176|PMID:24507191|PMID:25408367|PMID:25681989|PMID:25741868|PMID:26581115|PMID:28430856|PMID:28492532|PMID:28709720|PMID:30773994|PMID:32409511|PMID:32843152|PMID:33159016
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1322081	D	RGD:11554173	20210601	CTD		CTD Direct Evidence: marker/mechanism	PMID:24019256|PMID:24252504|PMID:24477737|PMID:26980269
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1322081	D	RGD:5687136|PMID:22177996	20120201	RGD			
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1322081	D	RGD:5687158|PMID:17023659	20120202	RGD		protein:increased phosphorylation:brain	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1322081	D	RGD:5687172|PMID:21667065	20120202	RGD		DNA:mutation:cds:p.A382T (human)	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1617357	D	RGD:5687159|PMID:20660618	20120202	RGD			
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322081	D	RGD:5687171|PMID:21865887	20120202	RGD		protein:increased phosphorylation:neocortex	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9003126	Hallucinations		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Auditory hallucination	PMID:18309045|PMID:18372902|PMID:18505686|PMID:18545701|PMID:19224587|PMID:19760257|PMID:20555136|PMID:22456481|PMID:22645277|PMID:23327806|PMID:24143176|PMID:25442115|PMID:25741868|PMID:26883171|PMID:28286471|PMID:28335005|PMID:28430856|PMID:28492532|PMID:28889094|PMID:31996268|PMID:38139294
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9004659	Respiration Disorders		IMP		D	RGD:640476628|PMID:27793099	20260317	RGD			
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9004866	Ataxia		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:18309045|PMID:18372902|PMID:18505686|PMID:18545701|PMID:19224587|PMID:19760257|PMID:20555136|PMID:22456481|PMID:22645277|PMID:23327806|PMID:24143176|PMID:25442115|PMID:25741868|PMID:26883171|PMID:28286471|PMID:28335005|PMID:28430856|PMID:28492532|PMID:28889094|PMID:31996268|PMID:38139294
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9005179	Chronic Brain Injury		ISO	RGD:1322081	D	RGD:5687179|PMID:20720505	20120203	RGD		protein:increased expression:brain	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:18802454|PMID:23692129|PMID:25408367|PMID:25681989|PMID:25741868|PMID:26581115|PMID:28492532|PMID:30773994|PMID:32409511|PMID:32843152|PMID:33159016
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1322081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:18309045|PMID:19465477|PMID:20154440|PMID:20600671|PMID:23401527|PMID:23827948|PMID:24143176|PMID:24507191|PMID:25741868|PMID:28430856|PMID:28492532|PMID:28709720
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1322081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:18802454|PMID:23692129|PMID:25408367|PMID:25681989|PMID:25741868|PMID:26581115|PMID:28492532|PMID:30773994|PMID:32409511|PMID:32843152|PMID:33159016
1310906	Tardbp	TAR DNA binding protein	gene	DOID:9255	frontotemporal dementia		ISS	RGD:1617357	D	RGD:13592920	20180719	MouseDO		OMIM:600274 | OMIM:600795	
1310907	Tlk2	tousled-like kinase 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:0050581	brachydactyly		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868
1310907	Tlk2	tousled-like kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310907	Tlk2	tousled-like kinase 2	gene	DOID:0061031	autosomal dominant intellectual developmental disorder 57		ISO	RGD:1322082	D	RGD:7240710	20190315	OMIM			
1310907	Tlk2	tousled-like kinase 2	gene	DOID:0061031	autosomal dominant intellectual developmental disorder 57		ISO	RGD:1322082	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 | ClinVar Annotator: match by term: TLK2-related condition | ClinVar Annotator: match by term: TLK2-related neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:29861108|PMID:35586607
1310907	Tlk2	tousled-like kinase 2	gene	DOID:0080636	syndromic microphthalmia		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic microphthalmia	PMID:25741868
1310907	Tlk2	tousled-like kinase 2	gene	DOID:0080833	laryngomalacia		ISO	RGD:1322082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis, type 1	
1310907	Tlk2	tousled-like kinase 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28492532|PMID:29758565|PMID:29861108|PMID:31558842|PMID:36980980
1310907	Tlk2	tousled-like kinase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1322082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27479843|PMID:29758565|PMID:29861108|PMID:31558842|PMID:36980980
1310907	Tlk2	tousled-like kinase 2	gene	DOID:10907	microcephaly		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1310907	Tlk2	tousled-like kinase 2	gene	DOID:11155	hypohidrosis		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:11162	respiratory failure		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:11193	syndactyly		ISO	RGD:1322082	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:25741868|PMID:29861108|PMID:34821460
1310907	Tlk2	tousled-like kinase 2	gene	DOID:1148	polydactyly		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:29758565|PMID:29861108|PMID:36980980
1310907	Tlk2	tousled-like kinase 2	gene	DOID:12849	autistic disorder		ISO	RGD:1322082	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: Autistic disorder	
1310907	Tlk2	tousled-like kinase 2	gene	DOID:12849	autistic disorder		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:1826	epilepsy		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1310907	Tlk2	tousled-like kinase 2	gene	DOID:1920	hyperuricemia		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperuricemia	PMID:25741868|PMID:29758565|PMID:29861108|PMID:36980980
1310907	Tlk2	tousled-like kinase 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:2234	focal epilepsy		ISO	RGD:1322082	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:29861108|PMID:34821460
1310907	Tlk2	tousled-like kinase 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:2841	asthma		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:3144	cutis laxa		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310907	Tlk2	tousled-like kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322082	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:29861108|PMID:34821460
1310907	Tlk2	tousled-like kinase 2	gene	DOID:480	movement disease		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322082	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310907	Tlk2	tousled-like kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310907	Tlk2	tousled-like kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:29758565|PMID:29861108|PMID:31131953|PMID:31406558|PMID:35586607|PMID:36980980|PMID:39538191
1310907	Tlk2	tousled-like kinase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:8927	learning disability		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:29758565|PMID:29861108|PMID:36980980
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1322082	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:29861108|PMID:34821460
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9001487	Facies		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial dysmorphism	PMID:25741868
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1322082	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:29758565|PMID:29861108|PMID:34821460|PMID:36980980
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322082	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9005809	Thyroid Nodule		ISO	RGD:1322082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid nodule	PMID:25741868|PMID:27479843
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1322082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hip dysplasia	PMID:25741868|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:29758565|PMID:29861108|PMID:36980980
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9007736	Vertigo		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27479843|PMID:29758565|PMID:29861108|PMID:36980980
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1322082	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9296	cleft lip		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868
1310907	Tlk2	tousled-like kinase 2	gene	DOID:936	brain disease		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532|PMID:29861108
1310907	Tlk2	tousled-like kinase 2	gene	DOID:9970	obesity		ISO	RGD:1322082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532|PMID:29861108
1310908	Nt5c1a	5'-nucleotidase, cytosolic IA	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310908	Nt5c1a	5'-nucleotidase, cytosolic IA	gene	DOID:10534	stomach cancer		ISO	RGD:1322084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310908	Nt5c1a	5'-nucleotidase, cytosolic IA	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310908	Nt5c1a	5'-nucleotidase, cytosolic IA	gene	DOID:1909	melanoma		ISO	RGD:1322084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310910	Sema6d	semaphorin 6D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310910	Sema6d	semaphorin 6D	gene	DOID:10534	stomach cancer		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310910	Sema6d	semaphorin 6D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310910	Sema6d	semaphorin 6D	gene	DOID:1324	lung cancer		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310910	Sema6d	semaphorin 6D	gene	DOID:1909	melanoma		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310910	Sema6d	semaphorin 6D	gene	DOID:303	substance-related disorder		ISO	RGD:1605040	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1310910	Sema6d	semaphorin 6D	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310910	Sema6d	semaphorin 6D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310910	Sema6d	semaphorin 6D	gene	DOID:5041	esophageal cancer		ISO	RGD:1605040	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310910	Sema6d	semaphorin 6D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310910	Sema6d	semaphorin 6D	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605040	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1310911	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310911	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:10534	stomach cancer		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310911	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310911	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:1312	focal segmental glomerulosclerosis		ISS	RGD:1322089	D	RGD:13592920	20200416	MouseDO			
1310911	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:1324	lung cancer		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310911	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310911	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:4362	cervical cancer		ISO	RGD:1322088	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310911	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310911	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310911	Cmas	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:0080261	autosomal recessive nonsyndromic deafness 106		ISO	RGD:1322090	D	RGD:7240710	20190315	OMIM			
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:0080261	autosomal recessive nonsyndromic deafness 106		ISO	RGD:1322090	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 | ClinVar Annotator: match by term: EPS8L2-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30311386|PMID:9536098
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:10534	stomach cancer		ISO	RGD:1322090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:1324	lung cancer		ISO	RGD:1322090	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:3275	thymoma		ISO	RGD:1322090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:4362	cervical cancer		ISO	RGD:1322090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322090	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310912	Eps8l2	EPS8 signaling adaptor L2	gene	DOID:9849	Meniere's disease		ISO	RGD:1322090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease	
1310914	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310914	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310914	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:1115	sarcoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310914	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	
1310914	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:1909	melanoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310914	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310914	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310914	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:4362	cervical cancer		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310914	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310914	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310914	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310914	Pip5k1b	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310915	Mylk	myosin light chain kinase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310915	Mylk	myosin light chain kinase	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:1322095	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome	PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:0060260	ptosis		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome	PMID:24033266|PMID:25333361|PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:0080685	aortic dissection		ISO	RGD:1322095	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ascending aortic dissection	PMID:21055718|PMID:25741868|PMID:29544503|PMID:30071989|PMID:39185084
1310915	Mylk	myosin light chain kinase	gene	DOID:10283	prostate cancer		ISO	RGD:1322095	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1310915	Mylk	myosin light chain kinase	gene	DOID:10283	prostate cancer		ISO	RGD:1322095	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1310915	Mylk	myosin light chain kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310915	Mylk	myosin light chain kinase	gene	DOID:1115	sarcoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:11155	hypohidrosis		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1322095	D	RGD:4891491|PMID:18828194	20110118	RGD		DNA:missense mutations, silent mutation:CDS:p.H21P, p.P147S, p.T335T (human)	
1310915	Mylk	myosin light chain kinase	gene	DOID:11830	myopia		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:1205	allergic disease		ISO	RGD:1322095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15621374
1310915	Mylk	myosin light chain kinase	gene	DOID:12215	oligohydramnios		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:21055718|PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:1324	lung cancer		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25944730|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28492532|PMID:28512736|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29907982|PMID:29961567|PMID:33895855|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29907982|PMID:29961567|PMID:30056620|PMID:31296287|PMID:33895855|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27854218|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:31296287|PMID:33895855|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:34422331|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30739908|PMID:30755392|PMID:31296287|PMID:33895855|PMID:34422331|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:32848021|PMID:33895855|PMID:34422331|PMID:36973604|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:32848021|PMID:33895855|PMID:34422331|PMID:34498425|PMID:36703223|PMID:36973604|PMID:37921548|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:32848021|PMID:33282382|PMID:33895855|PMID:34422331|PMID:34498425|PMID:36703223|PMID:36973604|PMID:37921548|PMID:38999368|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:32848021|PMID:33282382|PMID:33895855|PMID:34422331|PMID:34498425|PMID:36517271|PMID:36703223|PMID:36973604|PMID:37921548|PMID:38296580|PMID:38999368|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944380|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254188|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:31589614|PMID:32848021|PMID:33282382|PMID:33895855|PMID:34422331|PMID:34498425|PMID:35830949|PMID:36517271|PMID:36703223|PMID:36973604|PMID:37921548|PMID:38296580|PMID:38999368|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254188|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:31589614|PMID:32848021|PMID:33282382|PMID:33895855|PMID:34422331|PMID:34498425|PMID:35830949|PMID:36517271|PMID:36703223|PMID:36973604|PMID:37921548|PMID:38296580|PMID:38999368|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:21055718|PMID:24033266|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254188|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28550590|PMID:28855619|PMID:29269699|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:31296287|PMID:33190788|PMID:34422331|PMID:34498425|PMID:36517271|PMID:36973604|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:21055718|PMID:24033266|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254188|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28550590|PMID:28855619|PMID:29269699|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30739908|PMID:31296287|PMID:33190788|PMID:34422331|PMID:34498425|PMID:36517271|PMID:36973604|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:21055718|PMID:24033266|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254188|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28550590|PMID:28855619|PMID:29269699|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30739908|PMID:31296287|PMID:33190788|PMID:34422331|PMID:34498425|PMID:36517271|PMID:36973604|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:14323	Marfan syndrome		ISO	RGD:1322095	D	RGD:8554872	20190409	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:1686	glaucoma		ISO	RGD:1322095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20375339
1310915	Mylk	myosin light chain kinase	gene	DOID:178	vascular disease		ISO	RGD:1322095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18511912
1310915	Mylk	myosin light chain kinase	gene	DOID:1826	epilepsy		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1322095	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:21055718|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29543232|PMID:29544503|PMID:29961567
1310915	Mylk	myosin light chain kinase	gene	DOID:1891	optic nerve disease		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:1909	melanoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310915	Mylk	myosin light chain kinase	gene	DOID:2030	anxiety disorder		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:2841	asthma		ISO	RGD:1322095	D	RGD:4891492|PMID:17472811	20110118	RGD			
1310915	Mylk	myosin light chain kinase	gene	DOID:2841	asthma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:2841	asthma	severity	ISO	RGD:1322095	D	RGD:736668114|PMID:17266121	20260616	RGD		DNA:SNP:intron: rs9840993	
1310915	Mylk	myosin light chain kinase	gene	DOID:3070	high grade glioma		ISO	RGD:1322095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10232591
1310915	Mylk	myosin light chain kinase	gene	DOID:3087	gingivitis		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1322095	D	RGD:329970276|PMID:19706030	20230728	RGD		associated with nicotine dependence; DNA:SNP: (rs16834817)	
1310915	Mylk	myosin light chain kinase	gene	DOID:3627	aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Familial aortic aneurysms	PMID:26017485|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310915	Mylk	myosin light chain kinase	gene	DOID:4724	brain edema		ISO	RGD:1322095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19943851
1310915	Mylk	myosin light chain kinase	gene	DOID:480	movement disease		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:520	aortic disease		ISO	RGD:1322095	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial aortopathy	
1310915	Mylk	myosin light chain kinase	gene	DOID:552	pneumonia		ISO	RGD:1322095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15863634
1310915	Mylk	myosin light chain kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:65	connective tissue disease		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:26854089|PMID:28492532|PMID:28550590
1310915	Mylk	myosin light chain kinase	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal aortic aneurysm	PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:77	gastrointestinal system disease		ISO	RGD:1322095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15621374
1310915	Mylk	myosin light chain kinase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9000669	Ventricular Dysfunction, Right		ISO	RGD:1616651|RGD:1322095	D	RGD:4891489|PMID:20035030	20110118	RGD			
1310915	Mylk	myosin light chain kinase	gene	DOID:9000719	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1		ISO	RGD:1322095	D	RGD:7240710	20210602	OMIM			
1310915	Mylk	myosin light chain kinase	gene	DOID:9000719	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1		ISO	RGD:1322095	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 1 | ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	PMID:21055718|PMID:24033266|PMID:25333361|PMID:25741868|PMID:27146836|PMID:28074886|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28602422|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:33895855|PMID:34422331|PMID:36517271|PMID:36973604
1310915	Mylk	myosin light chain kinase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1322095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21052790
1310915	Mylk	myosin light chain kinase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1322095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12970723|PMID:18710790
1310915	Mylk	myosin light chain kinase	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial dissection	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9001733	Tinnitus		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9003507	Premature Birth		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9004484	Sepsis		ISO	RGD:1322095	D	RGD:1581052|PMID:16399953	19990101	RGD			
1310915	Mylk	myosin light chain kinase	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1322095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10232591|PMID:12970723
1310915	Mylk	myosin light chain kinase	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1322095	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19374788
1310915	Mylk	myosin light chain kinase	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1322095	D	RGD:1581052|PMID:16399953	19990101	RGD		associated with Sepsis	
1310915	Mylk	myosin light chain kinase	gene	DOID:9005077	Joint Instability		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1310915	Mylk	myosin light chain kinase	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1322095	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9006750	Familial Thoracic Aortic Aneurysm 7		ISO	RGD:1322095	D	RGD:7240710	20140903	OMIM			
1310915	Mylk	myosin light chain kinase	gene	DOID:9006750	Familial Thoracic Aortic Aneurysm 7		ISO	RGD:1322095	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 7 | ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm 7	PMID:11029314|PMID:11096123|PMID:16199547|PMID:17576681|PMID:21055718|PMID:21520333|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27586135|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254188|PMID:28254189|PMID:28391405|PMID:28401540|PMID:28492532|PMID:28512736|PMID:28550590|PMID:28602422|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29925964|PMID:29961567|PMID:30056620|PMID:30739908|PMID:31296287|PMID:33064175|PMID:33190788|PMID:33895855|PMID:34422331|PMID:34498425|PMID:35830949|PMID:36517271|PMID:36973604|PMID:38296580|PMID:38958168|PMID:9536098
1310915	Mylk	myosin light chain kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310915	Mylk	myosin light chain kinase	gene	DOID:9007661	Dwarfism		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9007736	Vertigo		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9008023	Memory Disorders		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9008421	Epistaxis		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9008615	Familial Thoracic Aortic Aneurysm 1		ISO	RGD:1322095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial thoracic aortic aneurysm	PMID:25637381|PMID:25741868|PMID:28492532|PMID:38958168
1310915	Mylk	myosin light chain kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868|PMID:28492532
1310915	Mylk	myosin light chain kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310915	Mylk	myosin light chain kinase	gene	DOID:9834	hyperopia		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1322096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:0070468	Yoon-Bellen neurodevelopmental syndrome		ISO	RGD:1322096	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OGDHL-related condition | ClinVar Annotator: match by term: YOON-BELLEN NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Yoon-Bellen neurodevelopmental syndrome	PMID:25741868|PMID:28492532
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:10534	stomach cancer		ISO	RGD:1322096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:1324	lung cancer		ISO	RGD:1322096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:1596	depressive disorder		ISO	RGD:1322096	D	RGD:8554872	20211214	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28017472
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:1909	melanoma		ISO	RGD:1322096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:5041	esophageal cancer		ISO	RGD:1322096	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:6000	congestive heart failure		ISO	RGD:1322096	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:630	genetic disease		ISO	RGD:1322096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28097321|PMID:28106320
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:9003507	Premature Birth		ISO	RGD:1322096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310916	Ogdhl	oxoglutarate dehydrogenase L	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1310917	Tns2	tensin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1310917	Tns2	tensin 2	gene	DOID:0060852	Pierson syndrome		ISS	RGD:1615728	D	RGD:13592920	20180518	MouseDO		OMIM:609049	
1310917	Tns2	tensin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310917	Tns2	tensin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1310917	Tns2	tensin 2	gene	DOID:1115	sarcoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1310917	Tns2	tensin 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1322097	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:28492532|PMID:29773874
1310917	Tns2	tensin 2	gene	DOID:1324	lung cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310917	Tns2	tensin 2	gene	DOID:1909	melanoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1310917	Tns2	tensin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1310917	Tns2	tensin 2	gene	DOID:3070	high grade glioma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310917	Tns2	tensin 2	gene	DOID:3275	thymoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310917	Tns2	tensin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1310917	Tns2	tensin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1310917	Tns2	tensin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310917	Tns2	tensin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322097	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1310917	Tns2	tensin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1310917	Tns2	tensin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1310917	Tns2	tensin 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310917	Tns2	tensin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310917	Tns2	tensin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1310917	Tns2	tensin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:0080918	polymicrogyria		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:0111145	ureteropelvic junction obstruction		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ureteropelvic junction obstruction	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:11111	hydronephrosis		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:1115	sarcoma		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:1324	lung cancer		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:1909	melanoma		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:3275	thymoma		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310919	Igdcc4	immunoglobulin superfamily, DCC subclass, member 4	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1602692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1310920	Zbtb45	zinc finger and BTB domain containing 45	gene	DOID:4362	cervical cancer		ISO	RGD:1322100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310920	Zbtb45	zinc finger and BTB domain containing 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310920	Zbtb45	zinc finger and BTB domain containing 45	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310921	Snx14	sorting nexin 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310921	Snx14	sorting nexin 14	gene	DOID:0050581	brachydactyly		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1322101	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25848753
1310921	Snx14	sorting nexin 14	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1322101	D	RGD:8554872	20211207	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar Annotator: match by term: Dysmetria	
1310921	Snx14	sorting nexin 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310921	Snx14	sorting nexin 14	gene	DOID:0080066	autosomal recessive spinocerebellar ataxia 20		ISO	RGD:1322101	D	RGD:7240710	20170315	OMIM			
1310921	Snx14	sorting nexin 14	gene	DOID:0080066	autosomal recessive spinocerebellar ataxia 20		ISO	RGD:1322101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 | ClinVar Annotator: match by term: SNX14-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 | ClinVar Annotator: match by term: autosomal recessive spinocerebellar ataxia 20	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532|PMID:34691693
1310921	Snx14	sorting nexin 14	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:10534	stomach cancer		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:25741868|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:1059	intellectual disability		ISO	RGD:1322101	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25848753
1310921	Snx14	sorting nexin 14	gene	DOID:1059	intellectual disability		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:10908	hydrocephalus		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310921	Snx14	sorting nexin 14	gene	DOID:1115	sarcoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:1324	lung cancer		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310921	Snx14	sorting nexin 14	gene	DOID:1826	epilepsy		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532|PMID:32581362
1310921	Snx14	sorting nexin 14	gene	DOID:1909	melanoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310921	Snx14	sorting nexin 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310921	Snx14	sorting nexin 14	gene	DOID:3070	high grade glioma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310921	Snx14	sorting nexin 14	gene	DOID:3275	thymoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310921	Snx14	sorting nexin 14	gene	DOID:480	movement disease		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1322101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:540	strabismus		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310921	Snx14	sorting nexin 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310921	Snx14	sorting nexin 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310921	Snx14	sorting nexin 14	gene	DOID:630	genetic disease		ISO	RGD:1322101	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1322101	D	RGD:11554173	20180424	CTD		CTD Direct Evidence: marker/mechanism	
1310921	Snx14	sorting nexin 14	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1322101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia	PMID:25741868
1310921	Snx14	sorting nexin 14	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:9003816	Macrocephaly		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1310921	Snx14	sorting nexin 14	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322101	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:9007661	Dwarfism		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
1310921	Snx14	sorting nexin 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1310922	Snrnp25	small nuclear ribonucleoprotein U11/U12 subunit 25	gene	DOID:1115	sarcoma		ISO	RGD:1322103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310922	Snrnp25	small nuclear ribonucleoprotein U11/U12 subunit 25	gene	DOID:4362	cervical cancer		ISO	RGD:1322103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310922	Snrnp25	small nuclear ribonucleoprotein U11/U12 subunit 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310922	Snrnp25	small nuclear ribonucleoprotein U11/U12 subunit 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1322105	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1322105	D	RGD:7240710	20130221	OMIM			
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1322105	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:0081082	acute myelomonocytic leukemia		ISO	RGD:1322105	D	RGD:1599311|PMID:10908648	20070130	RGD		juvenile myelomonocytic leukemia, OMIM:607785	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:10534	stomach cancer		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:1115	sarcoma		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:1324	lung cancer		ISO	RGD:1322105	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:1909	melanoma		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:5041	esophageal cancer		ISO	RGD:1322105	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310923	Arhgap26	Rho GTPase activating protein 26	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310924	Dyrk3	dual specificity tyrosine phosphorylation regulated kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310924	Dyrk3	dual specificity tyrosine phosphorylation regulated kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1322106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310924	Dyrk3	dual specificity tyrosine phosphorylation regulated kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310924	Dyrk3	dual specificity tyrosine phosphorylation regulated kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310924	Dyrk3	dual specificity tyrosine phosphorylation regulated kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310925	Snrnp27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310925	Snrnp27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1605404	D	RGD:11554173	20211019	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1310925	Snrnp27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:10534	stomach cancer		ISO	RGD:1605404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310925	Snrnp27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310925	Snrnp27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:1324	lung cancer		ISO	RGD:1605404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310925	Snrnp27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:3275	thymoma		ISO	RGD:1605404	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310925	Snrnp27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:4362	cervical cancer		ISO	RGD:1605404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310925	Snrnp27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1605404	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310925	Snrnp27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310926	B3gnt6	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1601928	D	RGD:8554872	20151208	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
1310928	Xpo7	exportin 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310928	Xpo7	exportin 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310928	Xpo7	exportin 7	gene	DOID:0060058	lymphoma		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310928	Xpo7	exportin 7	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1322111	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1310928	Xpo7	exportin 7	gene	DOID:10534	stomach cancer		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310928	Xpo7	exportin 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310928	Xpo7	exportin 7	gene	DOID:1115	sarcoma		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310928	Xpo7	exportin 7	gene	DOID:1909	melanoma		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310928	Xpo7	exportin 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310928	Xpo7	exportin 7	gene	DOID:3275	thymoma		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310928	Xpo7	exportin 7	gene	DOID:4362	cervical cancer		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310928	Xpo7	exportin 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310928	Xpo7	exportin 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310928	Xpo7	exportin 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1322111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310928	Xpo7	exportin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310928	Xpo7	exportin 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310928	Xpo7	exportin 7	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310928	Xpo7	exportin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310928	Xpo7	exportin 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310928	Xpo7	exportin 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310928	Xpo7	exportin 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1322111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310930	Zim1	zinc finger, imprinted 1	gene	DOID:1115	sarcoma		ISO	RGD:1353341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310930	Zim1	zinc finger, imprinted 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310930	Zim1	zinc finger, imprinted 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310930	Zim1	zinc finger, imprinted 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310931	Ccdc124	coiled-coil domain containing 124	gene	DOID:1324	lung cancer		ISO	RGD:1605304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310931	Ccdc124	coiled-coil domain containing 124	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310931	Ccdc124	coiled-coil domain containing 124	gene	DOID:4362	cervical cancer		ISO	RGD:1605304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310931	Ccdc124	coiled-coil domain containing 124	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310931	Ccdc124	coiled-coil domain containing 124	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310932	Dppa3	developmental pluripotency-associated 3	gene	DOID:1115	sarcoma		ISO	RGD:1352490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310932	Dppa3	developmental pluripotency-associated 3	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1352490	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16168501
1310933	Susd3	sushi domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1322117	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310933	Susd3	sushi domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310933	Susd3	sushi domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310933	Susd3	sushi domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310934	Ddx50	DExD-box helicase 50	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310934	Ddx50	DExD-box helicase 50	gene	DOID:10283	prostate cancer		ISO	RGD:1322118	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1310934	Ddx50	DExD-box helicase 50	gene	DOID:1115	sarcoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310934	Ddx50	DExD-box helicase 50	gene	DOID:1909	melanoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310934	Ddx50	DExD-box helicase 50	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310934	Ddx50	DExD-box helicase 50	gene	DOID:3275	thymoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310934	Ddx50	DExD-box helicase 50	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310934	Ddx50	DExD-box helicase 50	gene	DOID:4362	cervical cancer		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310934	Ddx50	DExD-box helicase 50	gene	DOID:5041	esophageal cancer		ISO	RGD:1322118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310934	Ddx50	DExD-box helicase 50	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310934	Ddx50	DExD-box helicase 50	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310934	Ddx50	DExD-box helicase 50	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1344996	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:1115	sarcoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:1324	lung cancer		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:1909	melanoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:3275	thymoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1344996	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344996	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:34067418
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310937	Parp6	poly (ADP-ribose) polymerase family, member 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1344996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310939	Slc49a4	solute carrier family 49 member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310939	Slc49a4	solute carrier family 49 member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310939	Slc49a4	solute carrier family 49 member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310939	Slc49a4	solute carrier family 49 member 4	gene	DOID:1909	melanoma		ISO	RGD:1322124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310939	Slc49a4	solute carrier family 49 member 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1322124	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1310939	Slc49a4	solute carrier family 49 member 4	gene	DOID:3275	thymoma		ISO	RGD:1322124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310939	Slc49a4	solute carrier family 49 member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310939	Slc49a4	solute carrier family 49 member 4	gene	DOID:4450	renal cell carcinoma	susceptibility	ISO	RGD:1322124	D	RGD:1601072|PMID:11912179	20070405	RGD		DNA:translocation:intron:t(2;3)(q35;q21)	
1310939	Slc49a4	solute carrier family 49 member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322124	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310939	Slc49a4	solute carrier family 49 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310939	Slc49a4	solute carrier family 49 member 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310939	Slc49a4	solute carrier family 49 member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310939	Slc49a4	solute carrier family 49 member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310942	Catsperg	catsper channel auxiliary subunit gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310942	Catsperg	catsper channel auxiliary subunit gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1322128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310942	Catsperg	catsper channel auxiliary subunit gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310942	Catsperg	catsper channel auxiliary subunit gamma	gene	DOID:1115	sarcoma		ISO	RGD:1322128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310942	Catsperg	catsper channel auxiliary subunit gamma	gene	DOID:3275	thymoma		ISO	RGD:1322128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310942	Catsperg	catsper channel auxiliary subunit gamma	gene	DOID:4362	cervical cancer		ISO	RGD:1322128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310942	Catsperg	catsper channel auxiliary subunit gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310942	Catsperg	catsper channel auxiliary subunit gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310943	Idua	alpha-L-iduronidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310943	Idua	alpha-L-iduronidase	gene	DOID:0060222	Scheie syndrome		ISO	RGD:1322129	D	RGD:7240710	20180207	OMIM			
1310943	Idua	alpha-L-iduronidase	gene	DOID:0060222	Scheie syndrome		ISO	RGD:1322129	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis Is | ClinVar Annotator: match by term: Scheie Syndrome	PMID:10735634|PMID:15521993|PMID:21364962|PMID:21394825|PMID:21480867|PMID:21624210|PMID:23786846|PMID:25741868|PMID:27520059|PMID:28492532|PMID:29801497|PMID:31319225
1310943	Idua	alpha-L-iduronidase	gene	DOID:0060320	inguinal hernia		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:28492532
1310943	Idua	alpha-L-iduronidase	gene	DOID:0060321	umbilical hernia		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:11735025|PMID:21480867|PMID:25741868|PMID:28492532|PMID:7951228
1310943	Idua	alpha-L-iduronidase	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve disease 2	PMID:11735025|PMID:21480867|PMID:25741868|PMID:28492532|PMID:7951228
1310943	Idua	alpha-L-iduronidase	gene	DOID:0111389	mucopolysaccharidosis Ih/s		ISO	RGD:1322129	D	RGD:7240710	20191030	OMIM			
1310943	Idua	alpha-L-iduronidase	gene	DOID:0111389	mucopolysaccharidosis Ih/s		ISO	RGD:1322129	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis type IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S	PMID:10215409|PMID:10735634|PMID:11735025|PMID:12509712|PMID:1301196|PMID:1301941|PMID:15521993|PMID:19751987|PMID:20301341|PMID:21364962|PMID:21394825|PMID:21480867|PMID:21624210|PMID:22306676|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24368159|PMID:24698225|PMID:24798265|PMID:25741868|PMID:27511503|PMID:27520059|PMID:28492532|PMID:28752568|PMID:29393969|PMID:29654546|PMID:29801497|PMID:31386236|PMID:33517895|PMID:7951228|PMID:8680403
1310943	Idua	alpha-L-iduronidase	gene	DOID:0111390	mucopolysaccharidosis Ih		ISO	RGD:1322129	D	RGD:7240710	20191030	OMIM			
1310943	Idua	alpha-L-iduronidase	gene	DOID:0111390	mucopolysaccharidosis Ih		ISO	RGD:1322129	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: HURLER SYNDROME | ClinVar Annotator: match by term: Hurler syndrome | ClinVar Annotator: match by term: Mucopolysaccharidosis Ih	PMID:10735634|PMID:11735025|PMID:12203999|PMID:12559846|PMID:14516901|PMID:15521993|PMID:16199547|PMID:17576681|PMID:17606547|PMID:19396826|PMID:21253827|PMID:21364962|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21624210|PMID:22976768|PMID:23786846|PMID:24036510|PMID:24053568|PMID:24767253|PMID:24798265|PMID:25614311|PMID:25741868|PMID:27146977|PMID:27511503|PMID:27520059|PMID:27896125|PMID:28492532|PMID:28728811|PMID:28752568|PMID:29620724|PMID:29801497|PMID:31473686|PMID:33301762|PMID:35141277|PMID:7550232|PMID:7951228|PMID:8019563|PMID:8401515|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9536098
1310943	Idua	alpha-L-iduronidase	gene	DOID:10376	amblyopia		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868|PMID:28492532
1310943	Idua	alpha-L-iduronidase	gene	DOID:10754	otitis media		ISS	RGD:1322130	D	RGD:13592920	20180518	MouseDO		OMIM:166760	
1310943	Idua	alpha-L-iduronidase	gene	DOID:10808	gastric ulcer		IEP		D	RGD:12910841|PMID:3713687	20170626	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:1115	sarcoma		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310943	Idua	alpha-L-iduronidase	gene	DOID:114	heart disease	treatment	ISO	RGD:1322130	D	RGD:329902066|PMID:33145772	20230629	RGD		associated with mucopolysaccharidosis I	
1310943	Idua	alpha-L-iduronidase	gene	DOID:11782	astigmatism		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:28492532
1310943	Idua	alpha-L-iduronidase	gene	DOID:12799	mucopolysaccharidosis II		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II	PMID:12203999|PMID:25741868|PMID:35614200
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1322129	D	RGD:11068482|PMID:1301941	20170626	RGD		DNA:missense mutation, nonsense mutation: :p.P533R, p.Q10X (human)	
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1322129	D	RGD:11069860|PMID:7951228	20170626	RGD		DNA:missense mutations, nonsense mutation: :multiple	
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1322129	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11159948|PMID:15081804|PMID:15194053|PMID:19309154|PMID:22822036
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1322129	D	RGD:12910504|PMID:8664897	20170616	RGD		DNA:insertion, missense mutation: :704_705CTGCT, p.R89Q (human)	
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1322129	D	RGD:12910509|PMID:21734815	20170616	RGD		DNA:splice-site mutations:intron:c.792+1G>T, c.1190-1G>A (human)	
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1322129	D	RGD:12910516|PMID:16435195	20170616	RGD		DNA:insertion/deletion, missense mutations, nonsense mutation: :multiple	
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1322129	D	RGD:12910721|PMID:27146977	20170621	RGD		DNA:mutations:exon, intron:multiple	
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1322129	D	RGD:1599894|PMID:1301196	20070220	RGD		DNA:nonsense mutation:CDS:p.W402X (human)	
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1322129	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: IDUA-related condition | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1	PMID:10215409|PMID:10466419|PMID:10607946|PMID:10735634|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11555618|PMID:11735025|PMID:11903343|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:12796790|PMID:1301196|PMID:1301941|PMID:1386236|PMID:14516901|PMID:14559116|PMID:1505961|PMID:15081804|PMID:15300847|PMID:1550122|PMID:15521993|PMID:15862278|PMID:16188808|PMID:16199547|PMID:1627351|PMID:16435195|PMID:16435211|PMID:16438163|PMID:17407067|PMID:17570076|PMID:17576681|PMID:17606547|PMID:18463126|PMID:18792977|PMID:18796143|PMID:18842627|PMID:19159218|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20026495|PMID:20217237|PMID:20301341|PMID:21176924|PMID:21253827|PMID:21364962|PMID:21393040|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21624210|PMID:21639919|PMID:2170400|PMID:21734815|PMID:21831683|PMID:21963080|PMID:22074387|PMID:22112002|PMID:22306676|PMID:22976768|PMID:23084433|PMID:23430557|PMID:23430803|PMID:23465405|PMID:23757202|PMID:23786846|PMID:23837464|PMID:23959878|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24767253|PMID:24781210|PMID:24798265|PMID:24875751|PMID:25009127|PMID:25098213|PMID:25102484|PMID:2522450|PMID:25256405|PMID:25525159|PMID:25557439|PMID:25558755|PMID:25614311|PMID:25741868|PMID:26260077|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27238910|PMID:27392569|PMID:27511503|PMID:27520059|PMID:27766162|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28302345|PMID:28492532|PMID:28518168|PMID:28604952|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:28844463|PMID:29095814|PMID:29120458|PMID:29140481|PMID:29143201|PMID:29282708|PMID:29393969|PMID:29620724|PMID:29654546|PMID:29705972|PMID:29801497|PMID:29843745|PMID:29906569|PMID:29947050|PMID:29976218|PMID:30083803|PMID:30093709|PMID:30120129|PMID:30442156|PMID:30755342|PMID:30809705|PMID:30903511|PMID:31133280|PMID:31194252|PMID:31236806|PMID:31298590|PMID:31304092|PMID:31319022|PMID:31341245|PMID:31386236|PMID:31400021|PMID:31473686|PMID:31678774|PMID:31758674|PMID:31991612|PMID:32188113|PMID:32432561|PMID:32461654|PMID:32483926|PMID:32670797|PMID:33073008|PMID:33098355|PMID:33147747|PMID:33198351|PMID:33301762|PMID:33389473|PMID:33517895|PMID:33686258|PMID:34148116|PMID:34573925|PMID:34813777|PMID:34833038|PMID:35005816|PMID:35141277|PMID:35787971|PMID:35848209|PMID:36265282|PMID:37516270|PMID:37895187|PMID:4112371|PMID:4221470|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8019572|PMID:8213840|PMID:8318992|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8554071|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9536098|PMID:9748610|PMID:9787109
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1322129	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HURLER-SCHEIE SYNDROME | ClinVar Annotator: match by term: IDUA-related condition | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 | ClinVar Annotator: match by term: Mucopolysaccharidosis type I	PMID:10215409|PMID:10466419|PMID:10607946|PMID:10735634|PMID:10911525|PMID:11555618|PMID:11735025|PMID:11903343|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:12796790|PMID:12865757|PMID:1301941|PMID:14516901|PMID:15081804|PMID:15300847|PMID:1550122|PMID:15521993|PMID:16188808|PMID:16199547|PMID:16435195|PMID:16435211|PMID:16438163|PMID:17407067|PMID:17570076|PMID:17576681|PMID:17606547|PMID:18463126|PMID:18792977|PMID:18842627|PMID:19159218|PMID:19396826|PMID:20026495|PMID:20974778|PMID:21253827|PMID:21364962|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21624210|PMID:21639919|PMID:21734815|PMID:21831683|PMID:21963080|PMID:22074387|PMID:22112002|PMID:22976768|PMID:23084433|PMID:23210910|PMID:23786846|PMID:23837464|PMID:23959878|PMID:24036510|PMID:24368159|PMID:24480078|PMID:24767253|PMID:24798265|PMID:24875751|PMID:25098213|PMID:25525159|PMID:25558755|PMID:25614311|PMID:25741868|PMID:26260077|PMID:26446585|PMID:26551775|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27392569|PMID:27511503|PMID:27520059|PMID:27896125|PMID:28302345|PMID:28492532|PMID:28604952|PMID:28676128|PMID:28728811|PMID:28752568|PMID:28844463|PMID:29095814|PMID:29140481|PMID:29143201|PMID:29240299|PMID:29282708|PMID:29620724|PMID:29705972|PMID:29801497|PMID:29906569|PMID:29947050|PMID:29966168|PMID:29976218|PMID:30083803|PMID:30093709|PMID:30120129|PMID:30419879|PMID:30442156|PMID:30809705|PMID:30903511|PMID:31194252|PMID:31236806|PMID:31298590|PMID:31304092|PMID:31319022|PMID:31386236|PMID:31400021|PMID:31473686|PMID:31590383|PMID:31678774|PMID:31758674|PMID:31991612|PMID:32036093|PMID:32036849|PMID:32188113|PMID:32432561|PMID:32670797|PMID:33072983|PMID:33098355|PMID:33147872|PMID:33198351|PMID:33203019|PMID:33301762|PMID:33389473|PMID:33517895|PMID:33578874|PMID:34148116|PMID:34573925|PMID:34813777|PMID:34833038|PMID:35005816|PMID:35123515|PMID:35141277|PMID:35614200|PMID:35787971|PMID:35848209|PMID:36052356|PMID:36077388|PMID:36265282|PMID:36494569|PMID:37181073|PMID:37189891|PMID:37516270|PMID:38456506|PMID:39158768|PMID:39702574|PMID:39754079|PMID:40359731|PMID:40869962|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8019572|PMID:8213840|PMID:8318992|PMID:8328452|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9536098|PMID:9748610|PMID:9787109
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1322130	D	RGD:12910501|PMID:19751987	20170616	RGD		DNA:nonsense mutation: :p.W392X (mouse)	
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1322130	D	RGD:12910513|PMID:9097952	20170616	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1322130	D	RGD:12910718|PMID:17920451	20170621	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I		ISS	RGD:1322130	D	RGD:13592920	20230718	MouseDO			
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I	treatment	ISO	RGD:1322129	D	RGD:12910497|PMID:15194053	20170616	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I	treatment	ISO	RGD:1322129	D	RGD:12910499|PMID:17407189	20170616	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I	treatment	ISO	RGD:1322129	D	RGD:12910502|PMID:12948739	20170616	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I	treatment	ISO	RGD:1322129	D	RGD:12910503|PMID:25597593	20170616	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I	treatment	ISO	RGD:1322129	D	RGD:12910510|PMID:24100243	20170616	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I	treatment	ISO	RGD:1322129	D	RGD:12910716|PMID:18523448	20170621	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I	treatment	ISO	RGD:1322129	D	RGD:12910719|PMID:15126990	20170621	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I	treatment	ISO	RGD:1322129	D	RGD:12910720|PMID:15128896	20170621	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I	treatment	ISO	RGD:1322129	D	RGD:329961545|PMID:11172140	20230724	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I	treatment	ISO	RGD:1322129	D	RGD:329961548|PMID:16860035	20230724	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I	treatment	ISO	RGD:1322129	D	RGD:329961554|PMID:17606547	20230724	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:12802	mucopolysaccharidosis I	treatment	ISO	RGD:1322130	D	RGD:12910508|PMID:21667973	20170616	RGD			
1310943	Idua	alpha-L-iduronidase	gene	DOID:1324	lung cancer		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310943	Idua	alpha-L-iduronidase	gene	DOID:1657	ventricular septal defect		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532
1310943	Idua	alpha-L-iduronidase	gene	DOID:1673	pneumothorax		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumothorax	PMID:11735025|PMID:21480867|PMID:25741868|PMID:28492532|PMID:7951228
1310943	Idua	alpha-L-iduronidase	gene	DOID:1712	aortic valve stenosis		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:11735025|PMID:21480867|PMID:25741868|PMID:28492532|PMID:7951228
1310943	Idua	alpha-L-iduronidase	gene	DOID:1754	mitral valve stenosis		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral stenosis	PMID:11735025|PMID:21480867|PMID:25741868|PMID:28492532|PMID:7951228
1310943	Idua	alpha-L-iduronidase	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism	PMID:11735025|PMID:21480867|PMID:25741868|PMID:28492532|PMID:7951228
1310943	Idua	alpha-L-iduronidase	gene	DOID:3082	interstitial lung disease		ISO	RGD:1322129	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Interstitial pneumonitis	PMID:25741868
1310943	Idua	alpha-L-iduronidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310943	Idua	alpha-L-iduronidase	gene	DOID:585	nephrolithiasis		ISO	RGD:1322129	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis | ClinVar Annotator: match by term: Calcium oxalate urolithiasis | ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate	PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:30586318|PMID:32432561|PMID:36719378
1310943	Idua	alpha-L-iduronidase	gene	DOID:630	genetic disease		ISO	RGD:1322129	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10738517|PMID:10911525|PMID:11735025|PMID:12559846|PMID:1301196|PMID:1301941|PMID:16435195|PMID:19748810|PMID:21394825|PMID:21480867|PMID:21521498|PMID:21639919|PMID:22074387|PMID:23465405|PMID:23786846|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24798265|PMID:25741868|PMID:27146977|PMID:27196898|PMID:28492532|PMID:28676128|PMID:28752568|PMID:30903511|PMID:33686258|PMID:7951228
1310943	Idua	alpha-L-iduronidase	gene	DOID:630	genetic disease		ISO	RGD:1322129	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10738517|PMID:10911525|PMID:11735025|PMID:12559846|PMID:1301196|PMID:1301941|PMID:15300847|PMID:16435195|PMID:19748810|PMID:21394825|PMID:21521498|PMID:21639919|PMID:22074387|PMID:23465405|PMID:23786846|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24798265|PMID:25741868|PMID:27146977|PMID:27196898|PMID:27843123|PMID:27939258|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:30903511|PMID:33686258|PMID:7951228
1310943	Idua	alpha-L-iduronidase	gene	DOID:630	genetic disease		ISO	RGD:1322129	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10215409|PMID:10738517|PMID:10911525|PMID:11735025|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:15300847|PMID:16435195|PMID:16438163|PMID:19748810|PMID:19751987|PMID:20301341|PMID:21394825|PMID:21480867|PMID:21521498|PMID:21639919|PMID:22074387|PMID:22976768|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27843123|PMID:27939258|PMID:28302345|PMID:28492532|PMID:28518168|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29393969|PMID:29654546|PMID:30809705|PMID:30903511|PMID:31194252|PMID:32461654|PMID:33073008|PMID:33389473|PMID:33517895|PMID:33686258|PMID:4221470|PMID:7951228|PMID:8680403
1310943	Idua	alpha-L-iduronidase	gene	DOID:630	genetic disease		ISO	RGD:1322129	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10215409|PMID:10738517|PMID:10911525|PMID:11735025|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:15300847|PMID:16435195|PMID:16438163|PMID:19748810|PMID:19751987|PMID:20301341|PMID:21394825|PMID:21480867|PMID:21521498|PMID:21639919|PMID:22074387|PMID:22976768|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27843123|PMID:27939258|PMID:28302345|PMID:28492532|PMID:28518168|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29393969|PMID:29654546|PMID:30809705|PMID:30903511|PMID:31194252|PMID:32461654|PMID:32483926|PMID:33073008|PMID:33389473|PMID:33517895|PMID:33686258|PMID:4221470|PMID:7951228|PMID:8680403
1310943	Idua	alpha-L-iduronidase	gene	DOID:630	genetic disease		ISO	RGD:1322129	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10215409|PMID:10738517|PMID:10911525|PMID:11735025|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:15300847|PMID:16435195|PMID:16438163|PMID:19748810|PMID:19751987|PMID:20301341|PMID:21394825|PMID:21480867|PMID:21521498|PMID:21639919|PMID:22074387|PMID:22976768|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27843123|PMID:27939258|PMID:28302345|PMID:28492532|PMID:28518168|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29393969|PMID:29654546|PMID:30809705|PMID:30903511|PMID:31194252|PMID:32461654|PMID:32483926|PMID:33073008|PMID:33389473|PMID:33517895|PMID:33686258|PMID:37516270|PMID:4221470|PMID:7951228|PMID:8680403
1310943	Idua	alpha-L-iduronidase	gene	DOID:630	genetic disease		ISO	RGD:1322129	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11735025|PMID:21480867|PMID:25741868|PMID:28492532|PMID:7951228
1310943	Idua	alpha-L-iduronidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310943	Idua	alpha-L-iduronidase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:11735025|PMID:21480867|PMID:25741868|PMID:28492532|PMID:7951228
1310943	Idua	alpha-L-iduronidase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322129	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1310943	Idua	alpha-L-iduronidase	gene	DOID:9001573	Experimental Liver Cirrhosis		IEP		D	RGD:12910840|PMID:6875476	20170626	RGD		protein:increased expression:liver	
1310943	Idua	alpha-L-iduronidase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310943	Idua	alpha-L-iduronidase	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:11735025|PMID:21480867|PMID:25741868|PMID:28492532|PMID:7951228
1310943	Idua	alpha-L-iduronidase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322129	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10215409|PMID:11735025|PMID:12509712|PMID:1301196|PMID:1301941|PMID:19751987|PMID:20301341|PMID:21394825|PMID:21480867|PMID:22306676|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24368159|PMID:24698225|PMID:24798265|PMID:25741868|PMID:27511503|PMID:28492532|PMID:28752568|PMID:29393969|PMID:29654546|PMID:33517895|PMID:7951228|PMID:8680403
1310943	Idua	alpha-L-iduronidase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322129	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1310943	Idua	alpha-L-iduronidase	gene	DOID:9007661	Dwarfism		ISO	RGD:1322129	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1310943	Idua	alpha-L-iduronidase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322129	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12203999|PMID:25741868|PMID:28492532|PMID:35614200
1310943	Idua	alpha-L-iduronidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310943	Idua	alpha-L-iduronidase	gene	DOID:9840	esotropia		ISO	RGD:1322129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:28492532
1310944	Naa50	N(alpha)-acetyltransferase 50, NatE catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310944	Naa50	N(alpha)-acetyltransferase 50, NatE catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1322131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1310944	Naa50	N(alpha)-acetyltransferase 50, NatE catalytic subunit	gene	DOID:3275	thymoma		ISO	RGD:1322131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1310944	Naa50	N(alpha)-acetyltransferase 50, NatE catalytic subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1322131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1310944	Naa50	N(alpha)-acetyltransferase 50, NatE catalytic subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1322131	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Esophageal cancer	PMID:25741868|PMID:28492532
1310944	Naa50	N(alpha)-acetyltransferase 50, NatE catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310944	Naa50	N(alpha)-acetyltransferase 50, NatE catalytic subunit	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1310944	Naa50	N(alpha)-acetyltransferase 50, NatE catalytic subunit	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1310944	Naa50	N(alpha)-acetyltransferase 50, NatE catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310945	Ccdc170	coiled-coil domain containing 170	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310945	Ccdc170	coiled-coil domain containing 170	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310945	Ccdc170	coiled-coil domain containing 170	gene	DOID:1909	melanoma		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310945	Ccdc170	coiled-coil domain containing 170	gene	DOID:4362	cervical cancer		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310945	Ccdc170	coiled-coil domain containing 170	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310945	Ccdc170	coiled-coil domain containing 170	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310945	Ccdc170	coiled-coil domain containing 170	gene	DOID:9002239	Estrogen Resistance		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Estrogen resistance | ClinVar Annotator: match by term: Estrogen resistance syndrome	PMID:33116287
1310945	Ccdc170	coiled-coil domain containing 170	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310945	Ccdc170	coiled-coil domain containing 170	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310948	Golim4	golgi integral membrane protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310948	Golim4	golgi integral membrane protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310948	Golim4	golgi integral membrane protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310948	Golim4	golgi integral membrane protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310948	Golim4	golgi integral membrane protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310948	Golim4	golgi integral membrane protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1310948	Golim4	golgi integral membrane protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322138	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1310948	Golim4	golgi integral membrane protein 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310948	Golim4	golgi integral membrane protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310948	Golim4	golgi integral membrane protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310948	Golim4	golgi integral membrane protein 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1310948	Golim4	golgi integral membrane protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310948	Golim4	golgi integral membrane protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:10675333|PMID:17143282|PMID:17143285|PMID:21041952|PMID:21387466|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9030684
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322140	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy	PMID:17143282|PMID:17143285|PMID:17586837|PMID:19953625|PMID:20981092|PMID:23487764|PMID:24033266|PMID:25741868|PMID:28492532
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322140	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:28492532
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0060058	lymphoma		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:10675333|PMID:17143282|PMID:17143285|PMID:21041952|PMID:21387466|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9030684
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0060249	scoliosis		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0060260	ptosis		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:17143282|PMID:17143285|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19352411|PMID:20186801|PMID:20301303|PMID:20305546|PMID:21387466|PMID:21784453|PMID:22190897|PMID:22465605|PMID:22488759|PMID:22494877|PMID:23487764|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24458522|PMID:25741868|PMID:25862627|PMID:26297936|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29625050|PMID:29696744|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:17143282|PMID:17143285|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19352411|PMID:20186801|PMID:20301303|PMID:20305546|PMID:21387466|PMID:21784453|PMID:22190897|PMID:22465605|PMID:22488759|PMID:22494877|PMID:23487764|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24458522|PMID:25741868|PMID:25862627|PMID:26297936|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29625050|PMID:29696744|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0060466	gingival fibromatosis		ISO	RGD:1322140	D	RGD:1580011|PMID:11868160	19990101	RGD			
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 1	PMID:17143282|PMID:17143285|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20301303|PMID:20305546|PMID:20673819|PMID:21204800|PMID:21340158|PMID:21387466|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:23487764|PMID:23665959|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24458522|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26297936|PMID:26607044|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31219622|PMID:31560489|PMID:33128510|PMID:33771761|PMID:34434697|PMID:35386434|PMID:35506549|PMID:35904599|PMID:35979676|PMID:35982160
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0060582	Noonan syndrome 4		ISO	RGD:1322140	D	RGD:11063026|PMID:17143282	20161207	RGD		DNA:missense mutations:exon:multiple	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0060582	Noonan syndrome 4		ISO	RGD:1322140	D	RGD:11063178|PMID:17586837	20161207	RGD		DNA:missense mutations:exon:multiple	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0060582	Noonan syndrome 4		ISO	RGD:1322140	D	RGD:11063543|PMID:17143285	20161207	RGD		DNA:missense mutations:exon:multiple	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0060582	Noonan syndrome 4		ISO	RGD:1322140	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0060582	Noonan syndrome 4		ISO	RGD:1322140	D	RGD:7240710	20130221	OMIM			
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0060582	Noonan syndrome 4		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NOONAN SYNDROME 4 | ClinVar Annotator: match by term: Noonan syndrome 4 | ClinVar Annotator: match by term: SOS1-related disorder	PMID:10675333|PMID:11868160|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19568997|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20301303|PMID:20305546|PMID:20493809|PMID:20673819|PMID:20981092|PMID:21041952|PMID:21204800|PMID:21340158|PMID:21387466|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24896146|PMID:25712082|PMID:25741868|PMID:25862627|PMID:25864170|PMID:26297936|PMID:26580448|PMID:26607044|PMID:26689913|PMID:26708403|PMID:26918529|PMID:27153395|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28991257|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29696744|PMID:29868112|PMID:29907801|PMID:30050098|PMID:30325180|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32333414|PMID:32603605|PMID:32981126|PMID:33128510|PMID:33318624|PMID:33461977|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34136918|PMID:34163525|PMID:34411415|PMID:34434697|PMID:35386434|PMID:35506549|PMID:35605646|PMID:35904599|PMID:35979676|PMID:35982160|PMID:36110220|PMID:36413997|PMID:37019085|PMID:37216690|PMID:37217689|PMID:37576960|PMID:40496714|PMID:9030684|PMID:9536098
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0060582	Noonan syndrome 4		ISO	RGD:1322141	D	RGD:11064696|PMID:21041952	20221017	RGD		DNA:missense mutation:CDS:p.E846K (mouse)	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0060582	Noonan syndrome 4		ISS	RGD:1322141	D	RGD:13592920	20230718	MouseDO		OMIM:610733	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0070210	hereditary lymphedema IA		ISO	RGD:1322140	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Edema of the dorsum of feet	PMID:16267129|PMID:17143282|PMID:17143285|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19352411|PMID:20305546|PMID:20493809|PMID:21387466|PMID:23487764|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29493581|PMID:29625050
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0070771	gingival fibromatosis 1		ISO	RGD:1322140	D	RGD:7240710	20130221	OMIM			
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0070771	gingival fibromatosis 1		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, 1 | ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: SOS1-related condition	PMID:10675333|PMID:11868160|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17576681|PMID:17586837|PMID:18651097|PMID:18678287|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20301303|PMID:20305546|PMID:20493809|PMID:20673819|PMID:21041952|PMID:21204800|PMID:21340158|PMID:21387466|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24896146|PMID:25741868|PMID:25862627|PMID:25864170|PMID:26297936|PMID:26580448|PMID:26607044|PMID:26689913|PMID:26708403|PMID:26918529|PMID:27153395|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28378436|PMID:28492532|PMID:28884940|PMID:29074966|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29868112|PMID:29907801|PMID:30050098|PMID:30325180|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32333414|PMID:32603605|PMID:33128510|PMID:33771761|PMID:34008892|PMID:34163525|PMID:34434697|PMID:35386434|PMID:35506549|PMID:35904599|PMID:35979676|PMID:35982160|PMID:36110220|PMID:36413997|PMID:37216690|PMID:9030684|PMID:9536098
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0080690	RASopathy		ISO	RGD:1322140	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27763634|PMID:28166811|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30266093|PMID:30417923|PMID:30784236|PMID:31219622|PMID:31573083|PMID:32603605|PMID:33318624|PMID:34008892|PMID:9536098
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0080690	RASopathy		ISO	RGD:1322140	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30266093|PMID:30417923|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31573083|PMID:32603605|PMID:33318624|PMID:34008892|PMID:9536098
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0080690	RASopathy		ISO	RGD:1322140	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0080690	RASopathy		ISO	RGD:1322140	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0080690	RASopathy		ISO	RGD:1322140	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0080690	RASopathy		ISO	RGD:1322140	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0080690	RASopathy		ISO	RGD:1322140	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29146900|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0080690	RASopathy		ISO	RGD:1322140	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29146900|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:29970176|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0080690	RASopathy		ISO	RGD:1322140	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29146900|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:29970176|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:36110220|PMID:9030684|PMID:9536098
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0080690	RASopathy		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies	PMID:10675333|PMID:11333268|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19568997|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20301303|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21204800|PMID:21340158|PMID:21387466|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24896146|PMID:25712082|PMID:25741868|PMID:25862627|PMID:25864170|PMID:26297936|PMID:26580448|PMID:26607044|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27304678|PMID:27418595|PMID:27763634|PMID:27993330|PMID:28378436|PMID:28492532|PMID:28767663|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29074966|PMID:29146900|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29868112|PMID:29907801|PMID:30050098|PMID:30325180|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32333414|PMID:32603605|PMID:32981126|PMID:33100332|PMID:33128510|PMID:33318624|PMID:33771761|PMID:34008892|PMID:34136918|PMID:34163525|PMID:34184824|PMID:34411415|PMID:34434697|PMID:35200695|PMID:35386434|PMID:35506549|PMID:35605646|PMID:35904599|PMID:35979676|PMID:35982160|PMID:36110220|PMID:36413997|PMID:37019085|PMID:37216690|PMID:37217689|PMID:37568403|PMID:37576960|PMID:39484914|PMID:9030684|PMID:9536098
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1322140	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:29493581
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1322140	D	RGD:13506813|PMID:19724911	20180220	RGD			
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:10675333|PMID:17143282|PMID:17143285|PMID:21041952|PMID:21387466|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9030684
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:17143282|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19352411|PMID:20305546|PMID:21387466|PMID:21784453|PMID:22190897|PMID:22465605|PMID:22488759|PMID:23885229|PMID:24033266|PMID:24037001|PMID:25741868|PMID:25862627|PMID:26297936|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29625050|PMID:29696744
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability	PMID:17143282|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19352411|PMID:19953625|PMID:20305546|PMID:21387466|PMID:21784453|PMID:22190897|PMID:22465605|PMID:22488759|PMID:23487764|PMID:23673306|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24803665|PMID:25741868|PMID:25802880|PMID:25862627|PMID:26297936|PMID:26918529|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29493581|PMID:29625050|PMID:29696744|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability	PMID:17143282|PMID:17143285|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19352411|PMID:19953625|PMID:20305546|PMID:21387466|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22465605|PMID:22488759|PMID:23487764|PMID:23673306|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26297936|PMID:26918529|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29493581|PMID:29625050|PMID:29696744|PMID:31219622|PMID:31292302|PMID:31560489|PMID:32333414|PMID:34008892|PMID:34163525|PMID:34434697|PMID:35506549|PMID:35904599|PMID:35982160
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preeclampsia	PMID:17143282|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19352411|PMID:20305546|PMID:21387466|PMID:21784453|PMID:22190897|PMID:22465605|PMID:22488759|PMID:23885229|PMID:24033266|PMID:24037001|PMID:25741868|PMID:25862627|PMID:26297936|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29625050|PMID:29696744
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:17143282|PMID:17143285|PMID:18854871|PMID:21779504|PMID:22190897|PMID:23487764|PMID:24451042|PMID:25741868|PMID:28492532|PMID:31219622|PMID:31560489|PMID:34434697|PMID:35506549|PMID:35904599|PMID:35982160
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:16199547|PMID:24033266|PMID:24896146|PMID:25741868|PMID:26918529|PMID:28492532|PMID:29868112|PMID:29907801|PMID:30050098|PMID:30838730|PMID:31573083|PMID:36110220
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:10675333|PMID:17143282|PMID:17143285|PMID:21041952|PMID:21387466|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9030684
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:17143282|PMID:17586837|PMID:18854871|PMID:19352411|PMID:20133692|PMID:21340158|PMID:21387466|PMID:22190897|PMID:22465605|PMID:23487764|PMID:24033266|PMID:24803665|PMID:25741868|PMID:26607044|PMID:28492532|PMID:29493581|PMID:33128510|PMID:33296094|PMID:33771761
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:11830	myopia		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:12336	male infertility		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Male subfertility	PMID:12628188|PMID:17143282|PMID:17143285|PMID:20648242|PMID:21387466|PMID:22585553|PMID:24033266|PMID:24451042|PMID:24803665|PMID:25741868|PMID:28492532|PMID:29493581|PMID:30039904|PMID:30325180|PMID:30541462|PMID:31573083|PMID:31785789|PMID:32059087|PMID:33042901
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:12849	autistic disorder		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322140	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:26350204|PMID:28492532|PMID:32603605
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322140	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:26350204|PMID:28492532|PMID:29907801|PMID:32603605
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:25741868|PMID:26350204|PMID:28492532|PMID:29907801|PMID:32603605
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:10675333|PMID:17143282|PMID:17143285|PMID:21041952|PMID:21387466|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9030684
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:14447	gonadal dysgenesis		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gonadal dysgenesis	PMID:25741868|PMID:33296094
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1322140	D	RGD:11063543|PMID:17143285	20221026	RGD		associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple (human)	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:17143282|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19352411|PMID:20305546|PMID:21387466|PMID:21784453|PMID:22190897|PMID:22465605|PMID:22488759|PMID:23885229|PMID:24033266|PMID:24037001|PMID:25741868|PMID:25862627|PMID:26297936|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29625050|PMID:29696744
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532|PMID:32603605
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:17143282|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19352411|PMID:20305546|PMID:21387466|PMID:21784453|PMID:22190897|PMID:22465605|PMID:22488759|PMID:23885229|PMID:24033266|PMID:24037001|PMID:25741868|PMID:25862627|PMID:26297936|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29625050|PMID:29696744
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:2316	brain ischemia		IDA		D	RGD:155630597|PMID:26442853	20221024	RGD			
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:3275	thymoma		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:10675333|PMID:17143282|PMID:17143285|PMID:21041952|PMID:21387466|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9030684
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1322140	D	RGD:11067112|PMID:20683980	20161207	RGD		DNA:missense mutation:exon:p.R497Q (human)	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1322140	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17603482|PMID:17603483
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:11333268|PMID:16267129|PMID:17143282|PMID:17143285|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19568997|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20301303|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20673819|PMID:20683980|PMID:21204800|PMID:21340158|PMID:21387466|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:25073238|PMID:25712082|PMID:25741868|PMID:25862627|PMID:26297936|PMID:26580448|PMID:26607044|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27304678|PMID:28378436|PMID:28492532|PMID:28957739|PMID:28991257|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29907801|PMID:30325180|PMID:30417923|PMID:30712878|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32333414|PMID:32603605|PMID:33128510|PMID:33318624|PMID:33771761|PMID:34008892|PMID:34163525|PMID:34411415|PMID:34434697|PMID:35386434|PMID:35418823|PMID:35506549|PMID:35605646|PMID:35904599|PMID:35979676|PMID:35982160|PMID:37576960
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:3526	cerebral infarction		ISO	RGD:1322140	D	RGD:155598600|PMID:35041140	20221018	RGD		mRNA:increased expression:blood (human)	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1322140	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322140	D	RGD:13441596|PMID:27581326	20171031	RGD		mRNA:increased expression:cervix epithelium (human)	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:483	cavernous hemangioma		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cavernous hemangioma	PMID:17143282|PMID:17586837|PMID:18854871|PMID:19352411|PMID:20133692|PMID:21340158|PMID:21387466|PMID:22190897|PMID:22465605|PMID:23487764|PMID:24033266|PMID:24803665|PMID:25741868|PMID:26607044|PMID:28492532|PMID:29493581|PMID:33128510|PMID:33771761
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322140	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:5723	optic atrophy		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532|PMID:32603605
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:10675333|PMID:17143282|PMID:17143285|PMID:21041952|PMID:21387466|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9030684
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:630	genetic disease		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19020799|PMID:25741868
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1322140	D	RGD:11063543|PMID:17143285	20221026	RGD		associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple (human)	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:16267129|PMID:17143282|PMID:17143285|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19352411|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20301303|PMID:20305546|PMID:20493809|PMID:21340158|PMID:21387466|PMID:21784453|PMID:22190897|PMID:22465605|PMID:22488759|PMID:22494877|PMID:23487764|PMID:23673306|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24458522|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26297936|PMID:26607044|PMID:26918529|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31292302|PMID:31560489|PMID:32333414|PMID:33128510|PMID:33771761|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16199547|PMID:24033266|PMID:24896146|PMID:25741868|PMID:26918529|PMID:28492532|PMID:29868112|PMID:29907801|PMID:30050098|PMID:30838730|PMID:31573083|PMID:36110220
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:799	varicose veins		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Varicose disease	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:16267129|PMID:17143282|PMID:17143285|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19352411|PMID:19438935|PMID:20133692|PMID:20305546|PMID:20493809|PMID:21387466|PMID:22465605|PMID:22848035|PMID:23487764|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28991257|PMID:29493581|PMID:29625050
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9000197	Edema		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	PMID:25741868
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9000323	Biventricular Hypertrophy		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Biventricular hypertrophy	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9000727	Syncope		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1322140	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:16267129|PMID:17143282|PMID:17143285|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19352411|PMID:20305546|PMID:20493809|PMID:21387466|PMID:23487764|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29493581|PMID:29625050
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:17143282|PMID:17143285|PMID:17586837|PMID:18854871|PMID:19020799|PMID:19953625|PMID:20186801|PMID:20301303|PMID:21387466|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22494877|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24451042|PMID:24458522|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31560489|PMID:32333414|PMID:34008892|PMID:34163525|PMID:34434697|PMID:35506549|PMID:35904599|PMID:35982160
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9001581	Constipation		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9001891	Atrial Septal Defect, Secundum Type		ISO	RGD:1322141	D	RGD:11064696|PMID:21041952	20221026	RGD		DNA:missense mutation:CDS:p.E846K (mouse)	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9002916	Hyperphagia		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9002969	Nevus		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:25741868
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9003091	Noonan Like Syndrome		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS	PMID:10675333|PMID:11868160|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18772396|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19568997|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20301303|PMID:20305546|PMID:20493809|PMID:20673819|PMID:20981092|PMID:21041952|PMID:21340158|PMID:21387466|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22494877|PMID:22585553|PMID:22589294|PMID:23452850|PMID:23487764|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24803665|PMID:25712082|PMID:25741868|PMID:25862627|PMID:25864170|PMID:26580448|PMID:26607044|PMID:26708403|PMID:26918529|PMID:27153395|PMID:27418595|PMID:27763634|PMID:28492532|PMID:28870985|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29696744|PMID:29907801|PMID:30325180|PMID:30712878|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32333414|PMID:32603605|PMID:32981126|PMID:33128510|PMID:33318624|PMID:33771761|PMID:34008892|PMID:34136918|PMID:34163525|PMID:34411415|PMID:34434697|PMID:35506549|PMID:35605646|PMID:35904599|PMID:35982160|PMID:37019085|PMID:37216690|PMID:37217689|PMID:37576960|PMID:9030684|PMID:9536098
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1322140	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:16267129|PMID:17143282|PMID:17143285|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19352411|PMID:20305546|PMID:20493809|PMID:21387466|PMID:23487764|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29493581|PMID:29625050
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:1322140	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Nuchal bleb, familial	PMID:17143285|PMID:17586837|PMID:20186801|PMID:20301303|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9003436	CRYPTOZOOSPERMIA		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptozoospermia	PMID:25741868|PMID:33296094
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:16267129|PMID:17143282|PMID:17143285|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19352411|PMID:19953625|PMID:20305546|PMID:20493809|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:29625050|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:10675333|PMID:17143282|PMID:17143285|PMID:21041952|PMID:21387466|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9030684
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9004201	Ectopia Lentis		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ectopia lentis	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:16267129|PMID:17143282|PMID:17143285|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19352411|PMID:19953625|PMID:20305546|PMID:20493809|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:29625050|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia | ClinVar Annotator: match by term: poor muscle tone	PMID:16267129|PMID:17143282|PMID:17143285|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19352411|PMID:19953625|PMID:20305546|PMID:20493809|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:29625050|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9006065	Arthralgia		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:17143282|PMID:17586837|PMID:18651097|PMID:18854871|PMID:18925667|PMID:19020799|PMID:19352411|PMID:20305546|PMID:21387466|PMID:21784453|PMID:22190897|PMID:22465605|PMID:22488759|PMID:23885229|PMID:24033266|PMID:24037001|PMID:25741868|PMID:25862627|PMID:26297936|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29625050|PMID:29696744
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17143282|PMID:17143285|PMID:17586837|PMID:18854871|PMID:20186801|PMID:20301303|PMID:21387466|PMID:21779504|PMID:22190897|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24451042|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31219622|PMID:31560489|PMID:34434697|PMID:35506549|PMID:35904599|PMID:35982160
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9007840	Chylothorax		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chylothorax	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17143282|PMID:17143285|PMID:18854871|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21779504|PMID:21784453|PMID:22190897|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24451042|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31219622|PMID:31292302|PMID:31560489|PMID:32333414|PMID:34008892|PMID:34163525|PMID:34434697|PMID:35506549|PMID:35904599|PMID:35982160
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9008189	Pyelectasis		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:17143282|PMID:17586837|PMID:19438935|PMID:20133692|PMID:21387466|PMID:22465605|PMID:22848035|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28991257
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:10675333|PMID:17143282|PMID:17143285|PMID:21041952|PMID:21387466|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9030684
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:10675333|PMID:17143282|PMID:17143285|PMID:21041952|PMID:21387466|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9030684
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9834	hyperopia		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:988	mitral valve prolapse		ISO	RGD:1322140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:17143285|PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525
1310949	Sos1	SOS Ras/Rac guanine nucleotide exchange factor 1	gene	DOID:9970	obesity		ISO	RGD:1322140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1310950	Camsap2	calmodulin regulated spectrin-associated protein family, member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310950	Camsap2	calmodulin regulated spectrin-associated protein family, member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310950	Camsap2	calmodulin regulated spectrin-associated protein family, member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310950	Camsap2	calmodulin regulated spectrin-associated protein family, member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310950	Camsap2	calmodulin regulated spectrin-associated protein family, member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310950	Camsap2	calmodulin regulated spectrin-associated protein family, member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310950	Camsap2	calmodulin regulated spectrin-associated protein family, member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310950	Camsap2	calmodulin regulated spectrin-associated protein family, member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310950	Camsap2	calmodulin regulated spectrin-associated protein family, member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604039	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310950	Camsap2	calmodulin regulated spectrin-associated protein family, member 2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1604039	D	RGD:8554872	20190507	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1310950	Camsap2	calmodulin regulated spectrin-associated protein family, member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310950	Camsap2	calmodulin regulated spectrin-associated protein family, member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310950	Camsap2	calmodulin regulated spectrin-associated protein family, member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310950	Camsap2	calmodulin regulated spectrin-associated protein family, member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310951	Kiaa1958	KIAA1958 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310951	Kiaa1958	KIAA1958 homolog	gene	DOID:0080600	COVID-19		ISO	RGD:1322143	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1310951	Kiaa1958	KIAA1958 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1322143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310951	Kiaa1958	KIAA1958 homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:0070398	hypomyelinating leukodystrophy 15		ISO	RGD:1322145	D	RGD:7240710	20190315	OMIM			
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:0070398	hypomyelinating leukodystrophy 15		ISO	RGD:1322145	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: EPRS1-related condition | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 15 | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 15	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29576217|PMID:38769304|PMID:9536098
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322145	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:1324	lung cancer		ISO	RGD:1322145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1322145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322145	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1322145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322145	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310952	Eprs1	glutamyl-prolyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310953	Cenpn	centromere protein N	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310954	Plekhb2	pleckstrin homology domain containing B2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310954	Plekhb2	pleckstrin homology domain containing B2	gene	DOID:1115	sarcoma		ISO	RGD:1322147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310954	Plekhb2	pleckstrin homology domain containing B2	gene	DOID:1324	lung cancer		ISO	RGD:1322147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310954	Plekhb2	pleckstrin homology domain containing B2	gene	DOID:1909	melanoma		ISO	RGD:1322147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310954	Plekhb2	pleckstrin homology domain containing B2	gene	DOID:2394	ovarian cancer		ISO	RGD:1322147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310954	Plekhb2	pleckstrin homology domain containing B2	gene	DOID:4362	cervical cancer		ISO	RGD:1322147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310954	Plekhb2	pleckstrin homology domain containing B2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322147	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310954	Plekhb2	pleckstrin homology domain containing B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310954	Plekhb2	pleckstrin homology domain containing B2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310954	Plekhb2	pleckstrin homology domain containing B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310954	Plekhb2	pleckstrin homology domain containing B2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310955	Cpxm2	carboxypeptidase X (M14 family), member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310955	Cpxm2	carboxypeptidase X (M14 family), member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310955	Cpxm2	carboxypeptidase X (M14 family), member 2	gene	DOID:1115	sarcoma		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310955	Cpxm2	carboxypeptidase X (M14 family), member 2	gene	DOID:1324	lung cancer		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310955	Cpxm2	carboxypeptidase X (M14 family), member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310955	Cpxm2	carboxypeptidase X (M14 family), member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310955	Cpxm2	carboxypeptidase X (M14 family), member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345488	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1310955	Cpxm2	carboxypeptidase X (M14 family), member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345488	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310955	Cpxm2	carboxypeptidase X (M14 family), member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310955	Cpxm2	carboxypeptidase X (M14 family), member 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310955	Cpxm2	carboxypeptidase X (M14 family), member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310955	Cpxm2	carboxypeptidase X (M14 family), member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310955	Cpxm2	carboxypeptidase X (M14 family), member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310957	Slitrk5	SLIT and NTRK-like family, member 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322151	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1310957	Slitrk5	SLIT and NTRK-like family, member 5	gene	DOID:10933	obsessive-compulsive disorder		ISO	RGD:1322151	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20418887
1310958	Cwh43	cell wall biogenesis 43 C-terminal homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1602204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310958	Cwh43	cell wall biogenesis 43 C-terminal homolog	gene	DOID:1572	normal pressure hydrocephalus		ISS	RGD:1332079	D	RGD:13592920	20230309	MouseDO		OMIM:236690	
1310958	Cwh43	cell wall biogenesis 43 C-terminal homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1602204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310958	Cwh43	cell wall biogenesis 43 C-terminal homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1602204	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310958	Cwh43	cell wall biogenesis 43 C-terminal homolog	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1602204	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
1310958	Cwh43	cell wall biogenesis 43 C-terminal homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:10534	stomach cancer		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:1115	sarcoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322154	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098869
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:1909	melanoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:3275	thymoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:4362	cervical cancer		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:5041	esophageal cancer		ISO	RGD:1322154	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310959	Clptm1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310960	Ndst3	N-deacetylase and N-sulfotransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310960	Ndst3	N-deacetylase and N-sulfotransferase 3	gene	DOID:1909	melanoma		ISO	RGD:1322156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310960	Ndst3	N-deacetylase and N-sulfotransferase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310960	Ndst3	N-deacetylase and N-sulfotransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310961	Ssr1	signal sequence receptor subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310961	Ssr1	signal sequence receptor subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1322158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310961	Ssr1	signal sequence receptor subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310961	Ssr1	signal sequence receptor subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310961	Ssr1	signal sequence receptor subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310962	Btbd1	BTB domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310962	Btbd1	BTB domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310962	Btbd1	BTB domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310962	Btbd1	BTB domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310962	Btbd1	BTB domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310962	Btbd1	BTB domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310962	Btbd1	BTB domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322160	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310962	Btbd1	BTB domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310962	Btbd1	BTB domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310962	Btbd1	BTB domain containing 1	gene	DOID:9008456	Delayed Emergence from Anesthesia		ISO	RGD:1322160	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16115977
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:0081463	recurrent respiratory papillomatosis		ISO	RGD:1322162	D	RGD:7240710	20260701	OMIM			
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:0081463	recurrent respiratory papillomatosis		ISO	RGD:1322162	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital	PMID:25741868|PMID:28492532|PMID:32707200
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:10283	prostate cancer		ISO	RGD:1322162	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:28492532
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:10283	prostate cancer		ISO	RGD:1322162	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:28492532
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:1115	sarcoma		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:12306	vitiligo		ISO	RGD:1322162	D	RGD:7240710	20260701	OMIM			
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:12306	vitiligo		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SYSTEMIC LUPUS ERYTHEMATOSUS, VITILIGO-RELATED | ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1	PMID:25741868|PMID:28492532|PMID:32707200
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:1909	melanoma		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:3070	high grade glioma		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25741868|PMID:28492532
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:3275	thymoma		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1322162	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:630	genetic disease		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:9007910	Autoinflammation with Arthritis and Dyskeratosis		ISO	RGD:1322162	D	RGD:7240710	20260701	OMIM			
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:9007910	Autoinflammation with Arthritis and Dyskeratosis		ISO	RGD:1322162	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS | ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis	PMID:17576681|PMID:25741868|PMID:27662089|PMID:27965258|PMID:28492532|PMID:30291141|PMID:32707200|PMID:33738798|PMID:9536098
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:9007939	Multiple Self-healing Palmoplantar Carcinoma		ISO	RGD:1322162	D	RGD:7240710	20260701	OMIM			
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:9007939	Multiple Self-healing Palmoplantar Carcinoma		ISO	RGD:1322162	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING | ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing	PMID:25741868|PMID:27662089|PMID:28492532|PMID:32707200
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1310963	Nlrp1a	NLR family, pyrin domain containing 1A	gene	DOID:9256	colorectal cancer		ISO	RGD:1322162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1310964	Nyap1	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310964	Nyap1	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:3275	thymoma		ISO	RGD:1602420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310964	Nyap1	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602420	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310964	Nyap1	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310964	Nyap1	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310965	Ikzf5	IKAROS family zinc finger 5	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322164	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1310965	Ikzf5	IKAROS family zinc finger 5	gene	DOID:0112084	nuclear type mitochondrial complex I deficiency 29		ISO	RGD:1322164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 29	PMID:25741868
1310965	Ikzf5	IKAROS family zinc finger 5	gene	DOID:1588	thrombocytopenia		ISO	RGD:1322164	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia | ClinVar Annotator: match by term: thrombocytopenia	PMID:25741868
1310965	Ikzf5	IKAROS family zinc finger 5	gene	DOID:3275	thymoma		ISO	RGD:1322164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310965	Ikzf5	IKAROS family zinc finger 5	gene	DOID:4362	cervical cancer		ISO	RGD:1322164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310965	Ikzf5	IKAROS family zinc finger 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310965	Ikzf5	IKAROS family zinc finger 5	gene	DOID:9008457	Thrombocytopenia 7		ISO	RGD:1322164	D	RGD:7240710	20210113	OMIM			
1310965	Ikzf5	IKAROS family zinc finger 5	gene	DOID:9008457	Thrombocytopenia 7		ISO	RGD:1322164	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: THROMBOCYTOPENIA 7 | ClinVar Annotator: match by term: Thrombocytopenia 7	PMID:25741868
1310965	Ikzf5	IKAROS family zinc finger 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310966	Dok2	docking protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310966	Dok2	docking protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310966	Dok2	docking protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1322166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310966	Dok2	docking protein 2	gene	DOID:3069	malignant astrocytoma	disease_progression	ISO	RGD:1322166	D	RGD:152177494|PMID:27975172	20220512	RGD		mRNA,protein:increased expression, increased phosphorylation:astrocytoma (human)	
1310966	Dok2	docking protein 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1322166	D	RGD:9068941	20220519	RGD		mRNA:decreased expression:lung (human)	PMID:20139980|REF_RGD_ID:152177521
1310966	Dok2	docking protein 2	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1322167	D	RGD:152177492|PMID:30475228	20220512	RGD			
1310966	Dok2	docking protein 2	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1322167	D	RGD:152177521|PMID:20139980	20220517	RGD			
1310966	Dok2	docking protein 2	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1322167	D	RGD:152177493|PMID:24255704	20220512	RGD			
1310966	Dok2	docking protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310966	Dok2	docking protein 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1322166	D	RGD:11554173	20221101	CTD		CTD Direct Evidence: marker/mechanism	PMID:36038634
1310966	Dok2	docking protein 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1322166	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20139980
1310966	Dok2	docking protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310966	Dok2	docking protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:0070297	primary microcephaly		ISO	RGD:1607029	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25558065|PMID:25741868
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:1115	sarcoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:1324	lung cancer		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:1826	epilepsy		ISO	RGD:1607029	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25558065|PMID:25741868
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:3275	thymoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1607029	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310969	Ino80	INO80 complex ATPase subunit	gene	DOID:9220	central sleep apnea		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea, central sleep	PMID:25741868
1310970	Clasp1	cytoplasmic linker associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310970	Clasp1	cytoplasmic linker associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310970	Clasp1	cytoplasmic linker associated protein 1	gene	DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A		ISO	RGD:1322173	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A	PMID:25326637|PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:32628740
1310970	Clasp1	cytoplasmic linker associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310970	Clasp1	cytoplasmic linker associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1322173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310970	Clasp1	cytoplasmic linker associated protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1322173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310970	Clasp1	cytoplasmic linker associated protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1322173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310970	Clasp1	cytoplasmic linker associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310970	Clasp1	cytoplasmic linker associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322173	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310970	Clasp1	cytoplasmic linker associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310970	Clasp1	cytoplasmic linker associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310970	Clasp1	cytoplasmic linker associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310970	Clasp1	cytoplasmic linker associated protein 1	gene	DOID:9007073	Cough	susceptibility	ISO	RGD:1322173	D	RGD:27226683|PMID:28084903	20200521	RGD		associated with Drug-Related Side Effects and Adverse Reactions;; DNA:SNPs:multiple:	
1310970	Clasp1	cytoplasmic linker associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310971	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310971	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:1115	sarcoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310971	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:3275	thymoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310971	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310971	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322175	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310971	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310971	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310971	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310971	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310971	Herc4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310972	Mtmr3	myotubularin related protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310972	Mtmr3	myotubularin related protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310972	Mtmr3	myotubularin related protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310972	Mtmr3	myotubularin related protein 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310972	Mtmr3	myotubularin related protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310972	Mtmr3	myotubularin related protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310972	Mtmr3	myotubularin related protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310972	Mtmr3	myotubularin related protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1310972	Mtmr3	myotubularin related protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310973	Sema3e	semaphorin 3E	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1322177	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease	PMID:25741868
1310973	Sema3e	semaphorin 3E	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1322177	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: CHARGE association	PMID:15235037|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:26467025|PMID:27854218|PMID:28492532|PMID:32870266|PMID:9536098
1310973	Sema3e	semaphorin 3E	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1322177	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES | ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar Annotator: match by term: Hall-Hittner syndrome	PMID:15235037|PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:26467025|PMID:28492532|PMID:30773290|PMID:32441320|PMID:32870266|PMID:35628442|PMID:9536098
1310973	Sema3e	semaphorin 3E	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1322177	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES | ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar Annotator: match by term: Hall-Hittner syndrome	PMID:15235037|PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:26467025|PMID:28492532|PMID:30773290|PMID:31328266|PMID:32441320|PMID:32870266|PMID:35628442|PMID:9536098
1310973	Sema3e	semaphorin 3E	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES | ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar Annotator: match by term: Charge syndrome | ClinVar Annotator: match by term: Hall-Hittner syndrome	PMID:15235037|PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:28492532|PMID:30773290|PMID:31328266|PMID:32870266|PMID:34348883|PMID:9536098
1310973	Sema3e	semaphorin 3E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310973	Sema3e	semaphorin 3E	gene	DOID:0060180	colitis		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colitis	PMID:25741868
1310973	Sema3e	semaphorin 3E	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1322177	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1310973	Sema3e	semaphorin 3E	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia	PMID:25741868|PMID:28492532|PMID:34348883
1310973	Sema3e	semaphorin 3E	gene	DOID:0090084	hypogonadotropic hypogonadism 5 with or without anosmia		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia	PMID:25741868|PMID:28492532
1310973	Sema3e	semaphorin 3E	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1322177	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	
1310973	Sema3e	semaphorin 3E	gene	DOID:0111807	syndromic microphthalmia 9		ISO	RGD:1322177	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome	PMID:25741868|PMID:28492532
1310973	Sema3e	semaphorin 3E	gene	DOID:1059	intellectual disability		ISO	RGD:1322177	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1310973	Sema3e	semaphorin 3E	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310973	Sema3e	semaphorin 3E	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322177	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
1310973	Sema3e	semaphorin 3E	gene	DOID:13938	amenorrhea		ISO	RGD:1322177	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:28492532|PMID:32870266
1310973	Sema3e	semaphorin 3E	gene	DOID:1909	melanoma		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1310973	Sema3e	semaphorin 3E	gene	DOID:224	transient cerebral ischemia	disease_progression	IEP		D	RGD:155663383|PMID:30653356	20221115	RGD			
1310973	Sema3e	semaphorin 3E	gene	DOID:5041	esophageal cancer		ISO	RGD:1322177	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1310973	Sema3e	semaphorin 3E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310973	Sema3e	semaphorin 3E	gene	DOID:9004226	Hittner Hirsch Kreh Syndrome		ISO	RGD:1322177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome	PMID:15235037|PMID:17576681|PMID:25741868|PMID:25985275|PMID:28492532|PMID:9536098
1310974	Sorcs3	sortilin-related VPS10 domain containing receptor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310974	Sorcs3	sortilin-related VPS10 domain containing receptor 3	gene	DOID:1115	sarcoma		ISO	RGD:1322178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310974	Sorcs3	sortilin-related VPS10 domain containing receptor 3	gene	DOID:1324	lung cancer		ISO	RGD:1322178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310974	Sorcs3	sortilin-related VPS10 domain containing receptor 3	gene	DOID:3070	high grade glioma		ISO	RGD:1322178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310974	Sorcs3	sortilin-related VPS10 domain containing receptor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310974	Sorcs3	sortilin-related VPS10 domain containing receptor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310975	Pde12	phosphodiesterase 12	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1606683	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26055709
1310975	Pde12	phosphodiesterase 12	gene	DOID:1324	lung cancer		ISO	RGD:1606683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310975	Pde12	phosphodiesterase 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310975	Pde12	phosphodiesterase 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310975	Pde12	phosphodiesterase 12	gene	DOID:9004531	Cardiovirus Infections		ISO	RGD:1606683	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26055709
1310975	Pde12	phosphodiesterase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310975	Pde12	phosphodiesterase 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:0081169	Leber congenital amaurosis 19		ISO	RGD:1322181	D	RGD:7240710	20190814	OMIM			
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:0081169	Leber congenital amaurosis 19		ISO	RGD:1322181	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 19	PMID:25741868
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:0081169	Leber congenital amaurosis 19		ISS	RGD:1551688	D	RGD:13592920	20230718	MouseDO			
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:10534	stomach cancer		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1322181	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:1909	melanoma		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:2394	ovarian cancer		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:3275	thymoma		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:4362	cervical cancer		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:5041	esophageal cancer		ISO	RGD:1322181	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:5679	retinal disease		ISO	RGD:1322181	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:25741868
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:5723	optic atrophy		ISO	RGD:1322181	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322181	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:31345219
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:9007661	Dwarfism		ISO	RGD:1322181	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310976	Usp45	ubiquitin specific peptidase 45	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310977	Epm2aip1	EPM2A interacting protein 1	gene	DOID:0070274	hereditary nonpolyposis colorectal cancer type 2		ISO	RGD:1322182	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: MLH1-related condition	PMID:28492532
1310977	Epm2aip1	EPM2A interacting protein 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:13487866|RGD:13489459|RGD:13819165|RGD:13819658|RGD:151885731|RGD:26890096|RGD:8592253	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms	PMID:28492532
1310979	Thbs2	thrombospondin 2	gene	DOID:1115	sarcoma		ISO	RGD:1322186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310979	Thbs2	thrombospondin 2	gene	DOID:11713	diabetic angiopathy		ISO	RGD:1322186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25381014
1310979	Thbs2	thrombospondin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310979	Thbs2	thrombospondin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310979	Thbs2	thrombospondin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322186	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310979	Thbs2	thrombospondin 2	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:1322186	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: marker/mechanism	
1310979	Thbs2	thrombospondin 2	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:1322186	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: THBS2-related condition	PMID:28492532
1310979	Thbs2	thrombospondin 2	gene	DOID:9000585	Intervertebral Disc Disease	susceptibility	ISO	RGD:1322186	D	RGD:7240710	20260805	OMIM			
1310979	Thbs2	thrombospondin 2	gene	DOID:9002676	Cerebral Hemorrhage		IEP		D	RGD:2317938|PMID:20136391	20100430	RGD			
1310979	Thbs2	thrombospondin 2	gene	DOID:9003822	Ehlers-Danlos syndrome classic-like 3		ISO	RGD:1322186	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 3	PMID:25741868
1310979	Thbs2	thrombospondin 2	gene	DOID:9003822	Ehlers-Danlos syndrome classic-like 3	susceptibility	ISO	RGD:1322186	D	RGD:7240710	20260805	OMIM			
1310979	Thbs2	thrombospondin 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:1322186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23723366
1310980	Mpzl3	myelin protein zero-like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310980	Mpzl3	myelin protein zero-like 3	gene	DOID:0060058	lymphoma		ISO	RGD:1601712	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310980	Mpzl3	myelin protein zero-like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310980	Mpzl3	myelin protein zero-like 3	gene	DOID:1324	lung cancer		ISO	RGD:1601712	D	RGD:153297750|PMID:29193083	20220721	RGD		DNA:SNP:UTR3:rs11216826 (human)	
1310980	Mpzl3	myelin protein zero-like 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310980	Mpzl3	myelin protein zero-like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1601712	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310980	Mpzl3	myelin protein zero-like 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310980	Mpzl3	myelin protein zero-like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310980	Mpzl3	myelin protein zero-like 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310981	Trim2	tripartite motif-containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310981	Trim2	tripartite motif-containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310981	Trim2	tripartite motif-containing 2	gene	DOID:0110161	Charcot-Marie-Tooth disease type 2R		ISO	RGD:1322189	D	RGD:7240710	20140911	OMIM			
1310981	Trim2	tripartite motif-containing 2	gene	DOID:0110161	Charcot-Marie-Tooth disease type 2R		ISO	RGD:1322189	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R	PMID:16199547|PMID:17576681|PMID:23562820|PMID:25741868|PMID:25893792|PMID:26257172|PMID:28492532|PMID:9536098
1310981	Trim2	tripartite motif-containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310981	Trim2	tripartite motif-containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310981	Trim2	tripartite motif-containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322189	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310981	Trim2	tripartite motif-containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310981	Trim2	tripartite motif-containing 2	gene	DOID:7319	axonal neuropathy		ISO	RGD:1322189	D	RGD:8554872	20191008	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	
1310981	Trim2	tripartite motif-containing 2	gene	DOID:8398	osteoarthritis		ISO	RGD:1322189	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
1310981	Trim2	tripartite motif-containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:0060058	lymphoma		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322191	D	RGD:617154591|PMID:27936202	20250708	RGD		mRNA, protein:increased expression:heart left ventricle	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1322191	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:2394	ovarian cancer		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:3070	high grade glioma		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322191	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1322191	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:6039	uveal melanoma		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310982	Col16a1	collagen type XVI alpha 1 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1322191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050567	orofacial cleft		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050581	brachydactyly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050840	cervical dystonia		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1343133	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0051061	stroke		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stroke	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343133	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0060321	umbilical hernia		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0080233	autosomal dominant intellectual developmental disorder 50		ISO	RGD:1343133	D	RGD:7240710	20190315	OMIM			
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0080233	autosomal dominant intellectual developmental disorder 50		ISO	RGD:1343133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: NAA15-related condition | ClinVar Annotator: match by term: NAA15-related syndrome	PMID:23665959|PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:29758562|PMID:30792901|PMID:33103328|PMID:33149276|PMID:36475376|PMID:37158195|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0080855	Parkinsonism		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:30792901|PMID:33149276|PMID:36475376|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1343133	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:29758562|PMID:30792901|PMID:31130284|PMID:33149276|PMID:37158195|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1343133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:29758562|PMID:30792901|PMID:33149276|PMID:36475376|PMID:37158195|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:10907	microcephaly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11111	hydronephrosis		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1115	sarcoma		ISO	RGD:1343133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11193	syndactyly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11383	cryptorchidism		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1148	polydactyly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11836	clubfoot		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:29758562|PMID:37158195|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1324	lung cancer		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1657	ventricular septal defect		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1826	epilepsy		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:2234	focal epilepsy		ISO	RGD:1343133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:2340	craniosynostosis		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:23665959|PMID:25741868|PMID:26785492|PMID:28191889|PMID:28990276
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:30792901|PMID:33149276|PMID:36475376|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:3310	atopic dermatitis		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:30792901|PMID:33149276|PMID:36475376|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:540	strabismus		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:543	dystonia		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:30792901|PMID:33149276|PMID:36475376|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:630	genetic disease		ISO	RGD:1343133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:29758562|PMID:30564305|PMID:30792901|PMID:33149276|PMID:36475376|PMID:37158195|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:674	cleft palate		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28191889|PMID:29656860
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9003507	Premature Birth		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28191889|PMID:29656860
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1343133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9007373	Left Ventricular Outflow Obstruction		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular outflow tract obstruction	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9007388	Heterochromia Iridis		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heterochromia iridis	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9007661	Dwarfism		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9008582	Developmental Disease		ISO	RGD:1343133	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1310984	Naa15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9970	obesity		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:29758562
1310985	Rhod	ras homolog family member D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310985	Rhod	ras homolog family member D	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310985	Rhod	ras homolog family member D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310985	Rhod	ras homolog family member D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310986	Exosc4	exosome component 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310987	Cyb561	cytochrome b-561	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310987	Cyb561	cytochrome b-561	gene	DOID:3275	thymoma		ISO	RGD:1322199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310987	Cyb561	cytochrome b-561	gene	DOID:4362	cervical cancer		ISO	RGD:1322199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310987	Cyb561	cytochrome b-561	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310987	Cyb561	cytochrome b-561	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310987	Cyb561	cytochrome b-561	gene	DOID:9009252	Orthostatic Hypotension 2		ISO	RGD:1322199	D	RGD:7240710	20190315	OMIM			
1310987	Cyb561	cytochrome b-561	gene	DOID:9009252	Orthostatic Hypotension 2		ISO	RGD:1322199	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ORTHOSTATIC HYPOTENSION 2	
1310988	Abhd1	abhydrolase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310988	Abhd1	abhydrolase domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1310988	Abhd1	abhydrolase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310988	Abhd1	abhydrolase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310989	Fbxl19	F-box and leucine-rich repeat protein 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310989	Fbxl19	F-box and leucine-rich repeat protein 19	gene	DOID:1909	melanoma		ISO	RGD:1322203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310989	Fbxl19	F-box and leucine-rich repeat protein 19	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310989	Fbxl19	F-box and leucine-rich repeat protein 19	gene	DOID:423	myopathy		ISO	RGD:1322203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
1310989	Fbxl19	F-box and leucine-rich repeat protein 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310989	Fbxl19	F-box and leucine-rich repeat protein 19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310989	Fbxl19	F-box and leucine-rich repeat protein 19	gene	DOID:8893	psoriasis		ISO	RGD:1322203	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953189
1310989	Fbxl19	F-box and leucine-rich repeat protein 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310989	Fbxl19	F-box and leucine-rich repeat protein 19	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1322203	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953189
1310989	Fbxl19	F-box and leucine-rich repeat protein 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310989	Fbxl19	F-box and leucine-rich repeat protein 19	gene	DOID:9256	colorectal cancer		ISO	RGD:1322203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:0040083	Chlamydia pneumonia	severity	ISO	RGD:1322206	D	RGD:40890270|PMID:29893841	20201208	RGD			
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:0040084	Streptococcus pneumonia	treatment	ISO	RGD:1322206	D	RGD:40890269|PMID:30093657	20201208	RGD		associated with immunodeficiency 14	
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532|PMID:31031754
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1322205	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21173233
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:1322205	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23676220
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:0060704	lymphoproliferative syndrome		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoproliferative disorder	PMID:24165795|PMID:25741868|PMID:27555459|PMID:27577878|PMID:28104464|PMID:28167755|PMID:28190860|PMID:28492532|PMID:29330011
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:0111936	immunodeficiency 14		ISO	RGD:1322205	D	RGD:7240710	20140911	OMIM			
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:0111936	immunodeficiency 14		ISO	RGD:1322205	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Activated PI3K-Delta Syndrome (APDS) | ClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive | ClinVar Annotator: match by term: activated PI3K-delta syndrome	PMID:16199547|PMID:16984281|PMID:17576681|PMID:24136356|PMID:24165795|PMID:24610295|PMID:25352054|PMID:25741868|PMID:26437962|PMID:26732860|PMID:27555459|PMID:27577878|PMID:27697496|PMID:28104464|PMID:28122867|PMID:28167755|PMID:28190860|PMID:28414062|PMID:28428270|PMID:28492532|PMID:28972011|PMID:29330011|PMID:29937814|PMID:30018075|PMID:30040974|PMID:30138677|PMID:30194267|PMID:30336224|PMID:30499059|PMID:30639166|PMID:30738173|PMID:31031754|PMID:31045771|PMID:31073077|PMID:31537641|PMID:32084423|PMID:32099075|PMID:32581362|PMID:32888943|PMID:33080915|PMID:33995405|PMID:34115277|PMID:35189965|PMID:35753512|PMID:36129616|PMID:9536098
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:0111936	immunodeficiency 14		ISS	RGD:1322206	D	RGD:13592920	20250703	MouseDO		OMIM:615513	
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:10534	stomach cancer		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:1115	sarcoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute respiratory distress syndrome	PMID:31031754
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:11573	listeriosis		ISO	RGD:1322206	D	RGD:40890274|PMID:26311905	20201208	RGD			
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:11830	myopia		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:12849	autistic disorder		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:1324	lung cancer		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:13250	diarrhea		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:1380	endometrial cancer		ISO	RGD:1322205	D	RGD:13441595|PMID:21478295	20171030	RGD			
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:14115	toxic shock syndrome	severity	ISO	RGD:1322206	D	RGD:40890272|PMID:28659355	20201208	RGD			
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:1596	depressive disorder		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:1909	melanoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:2030	anxiety disorder		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:2394	ovarian cancer		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:2841	asthma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532|PMID:31031754
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:1322205	D	RGD:13782051|PMID:24523440	20180816	RGD			
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:3070	high grade glioma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:3275	thymoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:4362	cervical cancer		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:4483	rhinitis		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhinitis	PMID:25741868|PMID:28492532|PMID:31031754
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:480	movement disease		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:5041	esophageal cancer		ISO	RGD:1322205	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:5419	schizophrenia	ameliorates	IMP		D	RGD:405255645|PMID:22689948	20240404	RGD			
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:1322205	D	RGD:405255645|PMID:22689948	20240404	RGD		DNA:SNPs: :rs6540991, rs9430220 (human)	
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:31031754
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:6039	uveal melanoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:630	genetic disease		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31031754
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:77	gastrointestinal system disease		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the digestive system	PMID:28492532|PMID:31031754
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9000886	Roifman-Chitayat Syndrome		ISO	RGD:1322205	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9000886	Roifman-Chitayat Syndrome		ISO	RGD:1322205	D	RGD:7240710	20210505	OMIM			
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9000886	Roifman-Chitayat Syndrome		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9001733	Tinnitus		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1322205	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1322206	D	RGD:6482696|PMID:18412166	20120425	RGD			
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9003126	Hallucinations		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9003507	Premature Birth		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9008023	Memory Disorders		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:31031754
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic hepatitis	PMID:28492532|PMID:31031754
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9111	cutaneous leishmaniasis	treatment	ISO	RGD:1322206	D	RGD:40890273|PMID:27999013	20201208	RGD			
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9146	visceral leishmaniasis	treatment	ISO	RGD:1322206	D	RGD:40890273|PMID:27999013	20201208	RGD			
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9256	colorectal cancer		ISO	RGD:1322205	D	RGD:13432038|PMID:25366420	20170913	RGD		DNA:hypermethylation	
1310990	Pik3cd	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	gene	DOID:9970	obesity		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1310991	Zfand2a	zinc finger AN1-type containing 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310991	Zfand2a	zinc finger AN1-type containing 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310991	Zfand2a	zinc finger AN1-type containing 2A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310991	Zfand2a	zinc finger AN1-type containing 2A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1310991	Zfand2a	zinc finger AN1-type containing 2A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310992	Utp15	UTP15, small subunit processome component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310992	Utp15	UTP15, small subunit processome component	gene	DOID:10534	stomach cancer		ISO	RGD:1604578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310992	Utp15	UTP15, small subunit processome component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310992	Utp15	UTP15, small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322209	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25290267
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:1115	sarcoma		ISO	RGD:1322209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:1324	lung cancer		ISO	RGD:1322209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:1909	melanoma		ISO	RGD:1322209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:3275	thymoma		ISO	RGD:1322209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322209	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322209	D	RGD:9586747|PMID:23671639	20141006	RGD		protein:decreased expression:liver	
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:33057194|PMID:35982159|PMID:35982160
1310993	Tet1	tet methylcytosine dioxygenase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:0050562	West syndrome		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322211	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1322211	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:0080749	chronic spontaneous urticaria		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic idiopathic urticaria	
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:0081327	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures		ISO	RGD:1322211	D	RGD:7240710	20190315	OMIM			
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:0081327	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures		ISO	RGD:1322211	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: IRF2BPL-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | ClinVar Annotator: match by term: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	PMID:25741868|PMID:28191890|PMID:28492532|PMID:30057031|PMID:30166628|PMID:31432588|PMID:33057194|PMID:35982159|PMID:37346291|PMID:37463579|PMID:38235039
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:1059	intellectual disability		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:11830	myopia		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:12849	autistic disorder		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:1826	epilepsy		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:420	hypertrichosis		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:543	dystonia		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:607	paraplegia		ISO	RGD:1322211	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:630	genetic disease		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:9000781	Cyanosis		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cyanosis	
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:9001722	Dysarthria		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:9001740	Blue Nevus		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blue nevus	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:9002916	Hyperphagia		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322211	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:9004866	Ataxia		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:9005077	Joint Instability		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:9005616	Micrognathism		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:9006178	Dysphonia		ISO	RGD:1322211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphonia	PMID:25741868
1310994	Irf2bpl	interferon regulatory factor 2 binding protein-like	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322211	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1310995	Klk15	kallikrein-related peptidase 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310995	Klk15	kallikrein-related peptidase 15	gene	DOID:10534	stomach cancer		ISO	RGD:1322213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310995	Klk15	kallikrein-related peptidase 15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322213	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1322215	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868|PMID:28492532|PMID:32531858
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0081292	traumatic brain injury		ISO	RGD:1322215	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0110005	Leber congenital amaurosis 9		ISO	RGD:1322215	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0110005	Leber congenital amaurosis 9		ISO	RGD:1322215	D	RGD:7240710	20130731	OMIM			
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0110005	Leber congenital amaurosis 9		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 | ClinVar Annotator: match by term: NMNAT1-related retinopathy	PMID:16199547|PMID:17576681|PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24791140|PMID:24830548|PMID:24940029|PMID:25412400|PMID:25741868|PMID:25988908|PMID:26018082|PMID:26047050|PMID:26103963|PMID:26112015|PMID:26316326|PMID:26464178|PMID:27032803|PMID:28041643|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29074561|PMID:29178642|PMID:29184169|PMID:29186038|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31877759|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32165824|PMID:32507954|PMID:32531858|PMID:32533184|PMID:32581362|PMID:32865313|PMID:33668384|PMID:33749171|PMID:34426522|PMID:34588515|PMID:34837036|PMID:35754085|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:3691693|PMID:38892339|PMID:42120987|PMID:9536098
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0110005	Leber congenital amaurosis 9		ISS	RGD:1623222	D	RGD:13592920	20230718	MouseDO		OMIM:608553	
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0112290	spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis		ISO	RGD:1322215	D	RGD:7240710	20210414	OMIM			
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0112290	spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SHILCA SYNDROME	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25412400|PMID:25741868|PMID:26018082|PMID:26047050|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28559085|PMID:29074561|PMID:29178642|PMID:29184169|PMID:29186038|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32533184|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:26112015|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:11446	sciatic neuropathy		IEP		D	RGD:13781948|PMID:16914673	20180814	RGD		mRNA:increased expression:dorsal root ganglion:	
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:13250	diarrhea		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:1432	blindness		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1322215	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38219857|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:1826	epilepsy		ISO	RGD:1322215	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24940029|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29053603|PMID:29184169|PMID:30004997|PMID:33749171
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:4448	macular degeneration		ISO	RGD:1322215	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22842229
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:5679	retinal disease		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:22842229|PMID:28492532|PMID:29178642
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:5723	optic atrophy		ISO	RGD:1322215	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22842229
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:83	cataract		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:8466	retinal degeneration		ISO	RGD:1322215	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22842230
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:8466	retinal degeneration		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal degeneration	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:8466	retinal degeneration		ISS	RGD:1623222	D	RGD:13592920	20230718	MouseDO			
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:26112015|PMID:26316326|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29178642|PMID:29184169|PMID:29186038|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:34837036|PMID:35754085|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1322215	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:24940029|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29053603|PMID:29184169|PMID:30004997|PMID:33749171
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1322215	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:1322215	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322215	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24940029|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29053603|PMID:29184169|PMID:30004997|PMID:33749171
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9004910	Hereditary Macular Coloboma		ISO	RGD:1322215	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22842230
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1310996	Nmnat1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1322216	D	RGD:10450608|PMID:9044825	20160119	RGD		DNA:translocation: :	
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1322216	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29047144
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adenoid cystic carcinoma	
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1322216	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770046
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:10534	stomach cancer		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:10754	otitis media		ISO	RGD:1322217	D	RGD:11054805|PMID:26611891	20161020	RGD			
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:10754	otitis media		ISS	RGD:1322217	D	RGD:13592920	20180518	MouseDO		OMIM:166760	
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:12450	pancytopenia		ISO	RGD:1322216	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:12450	pancytopenia		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: pancytopenia	PMID:25741868|PMID:34355501
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: tumor	PMID:25741868|PMID:37149759
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:1588	thrombocytopenia		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:32581362
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:1657	ventricular septal defect		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:1682	congenital heart disease		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:1788	peritoneal mesothelioma		ISO	RGD:1322216	D	RGD:8554872	20211026	ClinVar		ClinVar Annotator: match by term: Peritoneal mesothelioma	
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:4362	cervical cancer		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:5041	esophageal cancer		ISO	RGD:1322216	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:630	genetic disease		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:8692	myeloid leukemia		ISO	RGD:1322216	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770046
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1322216	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29047144
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9002720	Splenomegaly		ISO	RGD:1322216	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1322216	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770046
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1322216	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770046
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:1322216	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20512145
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322216	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9006251	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1		ISO	RGD:1322216	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	PMID:25741868
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9007517	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2		ISO	RGD:1322216	D	RGD:7240710	20161026	OMIM			
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9007517	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2		ISO	RGD:1322216	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MECOM-related condition | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	PMID:17576681|PMID:25741868|PMID:26581901|PMID:28492532|PMID:29146883|PMID:29200407|PMID:29519864|PMID:29540340|PMID:35219593|PMID:36658419|PMID:37407873|PMID:9536098
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322216	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770046
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322216	D	RGD:11554173	20190409	CTD		CTD Direct Evidence: marker/mechanism	PMID:30472098
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:9827	radioulnar synostosis		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Radioulnar synostosis	PMID:25741868
1310997	Mecom	MDS1 and EVI1 complex locus	gene	DOID:988	mitral valve prolapse		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:25741868
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:0050742	nicotine dependence		ISO	RGD:1322218	D	RGD:11554173	20241105	CTD		CTD Direct Evidence: marker/mechanism	PMID:29216386
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1322218	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:0060673	Peters anomaly		ISO	RGD:1322218	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:25741868|PMID:28492532
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:0070411	autosomal recessive spinocerebellar ataxia 30		ISO	RGD:1322218	D	RGD:7240710	20210728	OMIM			
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:0070411	autosomal recessive spinocerebellar ataxia 30		ISO	RGD:1322218	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PITRM1-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30	PMID:25741868|PMID:28492532|PMID:29764912|PMID:37576821
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:11830	myopia		ISO	RGD:1322218	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1322218	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:1826	epilepsy		ISO	RGD:1322218	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868|PMID:28492532
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:1909	melanoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1322218	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322218	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322218	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322218	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1322218	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1310998	Pitrm1	pitrilysin metallopeptidase 1	gene	DOID:9834	hyperopia		ISO	RGD:1322218	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:10283	prostate cancer		ISO	RGD:1322220	D	RGD:2289091|PMID:12079507	20080121	RGD		DNA:hypermethylation:promoter	
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:12849	autistic disorder		ISO	RGD:1322220	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18957284
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:1470	major depressive disorder		ISO	RGD:1322220	D	RGD:634888054|PMID:25226551	20260303	RGD		mRNA:decreased expression:blood	
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:1596	depressive disorder		ISO	RGD:1322220	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22113448
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:1909	melanoma		ISO	RGD:1322220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:3070	high grade glioma		ISO	RGD:1322220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:1322220	D	RGD:2289088|PMID:17260099	20080121	RGD		DNA:hypermethylation	
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:3910	lung adenocarcinoma		IEP		D	RGD:2289096|PMID:16814249	20080122	RGD		DNA, mRNA:hypermethylation, decreased expression:promoter:liver	
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:684	hepatocellular carcinoma		IEP		D	RGD:2289095|PMID:17428255	20080122	RGD		DNA, mRNA, protein:hypermethylation, decreased expression:promoter:liver	
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1322220	D	RGD:11554173	20210112	CTD		CTD Direct Evidence: marker/mechanism	PMID:30673822
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:8991	cervix uteri carcinoma in situ	severity	ISO	RGD:1322220	D	RGD:2289089|PMID:17009984	20080121	RGD			
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:9002762	Ovarian Neoplasms	severity	ISO	RGD:1322220	D	RGD:2296030|PMID:16532039	20080624	RGD		DNA:hypermethylation	
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1322220	D	RGD:2289090|PMID:15589594	20080121	RGD		DNA, mRNA:hypermethylation, decreased expression:cervix	
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:9003373	Uterine Cervical Neoplasms	severity	ISO	RGD:1322220	D	RGD:2289089|PMID:17009984	20080121	RGD			
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322220	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17260099
1310999	Cadm1	cell adhesion molecule 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311003	Cdca2	cell division cycle associated 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311003	Cdca2	cell division cycle associated 2	gene	DOID:0080600	COVID-19		ISO	RGD:1322226	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311003	Cdca2	cell division cycle associated 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311003	Cdca2	cell division cycle associated 2	gene	DOID:1115	sarcoma		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311003	Cdca2	cell division cycle associated 2	gene	DOID:1324	lung cancer		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311003	Cdca2	cell division cycle associated 2	gene	DOID:1909	melanoma		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311003	Cdca2	cell division cycle associated 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311003	Cdca2	cell division cycle associated 2	gene	DOID:2661	myoepithelioma		ISO	RGD:1322226	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1311003	Cdca2	cell division cycle associated 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311003	Cdca2	cell division cycle associated 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311003	Cdca2	cell division cycle associated 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311003	Cdca2	cell division cycle associated 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322226	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1311003	Cdca2	cell division cycle associated 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311003	Cdca2	cell division cycle associated 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311003	Cdca2	cell division cycle associated 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311003	Cdca2	cell division cycle associated 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311004	Ift52	intraflagellar transport 52	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1322228	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1311004	Ift52	intraflagellar transport 52	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1322228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:28492532|PMID:29068549
1311004	Ift52	intraflagellar transport 52	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311004	Ift52	intraflagellar transport 52	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311004	Ift52	intraflagellar transport 52	gene	DOID:1115	sarcoma		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311004	Ift52	intraflagellar transport 52	gene	DOID:1324	lung cancer		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311004	Ift52	intraflagellar transport 52	gene	DOID:3275	thymoma		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311004	Ift52	intraflagellar transport 52	gene	DOID:4362	cervical cancer		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311004	Ift52	intraflagellar transport 52	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311004	Ift52	intraflagellar transport 52	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311004	Ift52	intraflagellar transport 52	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311004	Ift52	intraflagellar transport 52	gene	DOID:9006222	Short-Rib Thoracic Dysplasia 16 with or without Polydactyly		ISO	RGD:1322228	D	RGD:7240710	20190315	OMIM			
1311004	Ift52	intraflagellar transport 52	gene	DOID:9006222	Short-Rib Thoracic Dysplasia 16 with or without Polydactyly		ISO	RGD:1322228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IFT52-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 16 with or without polydactyly	PMID:25741868|PMID:26880018|PMID:28492532
1311004	Ift52	intraflagellar transport 52	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311004	Ift52	intraflagellar transport 52	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311004	Ift52	intraflagellar transport 52	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311004	Ift52	intraflagellar transport 52	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1322228	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1311005	Hscb	HscB mitochondrial iron-sulfur cluster co-chaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311005	Hscb	HscB mitochondrial iron-sulfur cluster co-chaperone	gene	DOID:0061007	sideroblastic anemia 5		ISO	RGD:1602295	D	RGD:7240710	20210929	OMIM			
1311005	Hscb	HscB mitochondrial iron-sulfur cluster co-chaperone	gene	DOID:0061007	sideroblastic anemia 5		ISO	RGD:1602295	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anemia, sideroblastic, 5	PMID:25741868
1311005	Hscb	HscB mitochondrial iron-sulfur cluster co-chaperone	gene	DOID:10534	stomach cancer		ISO	RGD:1602295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311005	Hscb	HscB mitochondrial iron-sulfur cluster co-chaperone	gene	DOID:1115	sarcoma		ISO	RGD:1602295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311005	Hscb	HscB mitochondrial iron-sulfur cluster co-chaperone	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311005	Hscb	HscB mitochondrial iron-sulfur cluster co-chaperone	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311005	Hscb	HscB mitochondrial iron-sulfur cluster co-chaperone	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311005	Hscb	HscB mitochondrial iron-sulfur cluster co-chaperone	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311008	Gmds	GDP-mannose 4, 6-dehydratase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311008	Gmds	GDP-mannose 4, 6-dehydratase	gene	DOID:10534	stomach cancer		ISO	RGD:1322234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311008	Gmds	GDP-mannose 4, 6-dehydratase	gene	DOID:1067	open-angle glaucoma	susceptibility	ISO	RGD:1322234	D	RGD:13673886|PMID:25173105	20180627	RGD		DNA:SNPs: :rs11969985,rs2761233(human)	
1311008	Gmds	GDP-mannose 4, 6-dehydratase	gene	DOID:1909	melanoma		ISO	RGD:1322234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311008	Gmds	GDP-mannose 4, 6-dehydratase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311008	Gmds	GDP-mannose 4, 6-dehydratase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311008	Gmds	GDP-mannose 4, 6-dehydratase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311008	Gmds	GDP-mannose 4, 6-dehydratase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311009	Med29	mediator complex subunit 29	gene	DOID:10907	microcephaly		ISO	RGD:1351639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311009	Med29	mediator complex subunit 29	gene	DOID:4362	cervical cancer		ISO	RGD:1351639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311009	Med29	mediator complex subunit 29	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311009	Med29	mediator complex subunit 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311009	Med29	mediator complex subunit 29	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1351639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:25741868
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322237	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:25741868
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:0081200	autosomal recessive intellectual developmental disorder 34		ISO	RGD:1322237	D	RGD:7240710	20140911	OMIM			
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:0081200	autosomal recessive intellectual developmental disorder 34		ISO	RGD:1322237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CRADD-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY	PMID:22279524|PMID:25741868|PMID:27773430|PMID:28492532|PMID:30281648|PMID:30914828
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:1059	intellectual disability		ISO	RGD:1322237	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:1115	sarcoma		ISO	RGD:1322237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:1826	epilepsy		ISO	RGD:1322237	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1322237	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20208132
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:630	genetic disease		ISO	RGD:1322237	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322237	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311010	Cradd	CARD and death domain containing adaptor protein	gene	DOID:9834	hyperopia		ISO	RGD:1322237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1311011	Loxl3	lysyl oxidase-like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311011	Loxl3	lysyl oxidase-like 3	gene	DOID:0080833	laryngomalacia		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:28492532
1311011	Loxl3	lysyl oxidase-like 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868|PMID:28492532
1311011	Loxl3	lysyl oxidase-like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311011	Loxl3	lysyl oxidase-like 3	gene	DOID:3275	thymoma		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311011	Loxl3	lysyl oxidase-like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311011	Loxl3	lysyl oxidase-like 3	gene	DOID:674	cleft palate		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:28492532
1311011	Loxl3	lysyl oxidase-like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322239	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:35841383
1311011	Loxl3	lysyl oxidase-like 3	gene	DOID:9000918	Disease Progression		ISO	RGD:1322239	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:35841383
1311011	Loxl3	lysyl oxidase-like 3	gene	DOID:9002189	High Myopia		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868|PMID:28492532
1311011	Loxl3	lysyl oxidase-like 3	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868|PMID:28492532
1311011	Loxl3	lysyl oxidase-like 3	gene	DOID:9004584	Myopia 28		ISO	RGD:1322239	D	RGD:7240710	20220316	OMIM			
1311011	Loxl3	lysyl oxidase-like 3	gene	DOID:9004584	Myopia 28		ISO	RGD:1322239	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LOXL3-related condition | ClinVar Annotator: match by term: MYOPIA 28, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Myopia 28, autosomal recessive	PMID:25741868|PMID:28492532|PMID:30362103|PMID:32531858|PMID:33456446
1311011	Loxl3	lysyl oxidase-like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311012	Samd5	sterile alpha motif domain containing 5	gene	DOID:3275	thymoma		ISO	RGD:1353343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311012	Samd5	sterile alpha motif domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311012	Samd5	sterile alpha motif domain containing 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1353343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311013	Lrrc4c	leucine rich repeat containing 4C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311013	Lrrc4c	leucine rich repeat containing 4C	gene	DOID:5041	esophageal cancer		ISO	RGD:1605967	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:0060249	scoliosis		ISO	RGD:1322243	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1311014	Tbx2	T-box transcription factor 2	gene	DOID:0070345	vertebral anomalies and variable endocrine and T-cell dysfunction		ISO	RGD:1322243	D	RGD:7240710	20190626	OMIM			
1311014	Tbx2	T-box transcription factor 2	gene	DOID:0070345	vertebral anomalies and variable endocrine and T-cell dysfunction		ISO	RGD:1322243	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: TBX2-related condition | ClinVar Annotator: match by term: Vertebral anomalies and variable endocrine and T-cell dysfunction	PMID:25741868|PMID:28492532|PMID:29726930
1311014	Tbx2	T-box transcription factor 2	gene	DOID:10426	Klippel-Feil syndrome		ISO	RGD:1322243	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Klippel-Feil syndrome	PMID:25741868
1311014	Tbx2	T-box transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:10907	microcephaly		ISO	RGD:1322243	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311014	Tbx2	T-box transcription factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1322243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:1681	heart septal defect		ISO	RGD:1322243	D	RGD:401794416|PMID:30525309	20230824	RGD		DNA:SNP:promoter:rs4455026(c.&#8208;1028G>C)(human)	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:1681	heart septal defect	susceptibility	ISO	RGD:1322243	D	RGD:401794414|PMID:30262811	20230824	RGD		DNA:SNP:3'UTR:rs59382073(human)	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:1826	epilepsy		ISO	RGD:1322243	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1311014	Tbx2	T-box transcription factor 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1322243	D	RGD:401794416|PMID:30525309	20230824	RGD		DNA:SNP:promoter:rs4455026(c.&#8208;1028G>C)(human)	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1322243	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1311014	Tbx2	T-box transcription factor 2	gene	DOID:1909	melanoma		ISO	RGD:1322243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1322243	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
1311014	Tbx2	T-box transcription factor 2	gene	DOID:3393	coronary artery disease		ISO	RGD:1322243	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:35590109
1311014	Tbx2	T-box transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:674	cleft palate		ISO	RGD:1322243	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1311014	Tbx2	T-box transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:7166	thyroiditis		ISO	RGD:1322243	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thyroiditis	PMID:25741868
1311014	Tbx2	T-box transcription factor 2	gene	DOID:769	neuroblastoma		ISO	RGD:1322243	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30127528
1311014	Tbx2	T-box transcription factor 2	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1322243	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
1311014	Tbx2	T-box transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:9007182	Right Ventricular Outflow Obstruction		ISO	RGD:1322243	D	RGD:401794416|PMID:30525309	20230824	RGD		DNA:SNP:promoter:rs4455026(c.&#8208;1028G>C)(human)	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:9007182	Right Ventricular Outflow Obstruction	susceptibility	ISO	RGD:1322243	D	RGD:401794414|PMID:30262811	20230824	RGD		DNA:SNP:3'UTR:rs59382073(human)	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:9007373	Left Ventricular Outflow Obstruction	susceptibility	ISO	RGD:1322243	D	RGD:401794414|PMID:30262811	20230824	RGD		DNA:SNP:3'UTR:rs59382073(human)	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:9007617	Conotruncal Cardiac Defects	susceptibility	ISO	RGD:1322243	D	RGD:401794414|PMID:30262811	20230824	RGD		DNA:SNP:3'UTR:rs59382073(human)	
1311014	Tbx2	T-box transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311015	Piwil4	piwi-like RNA-mediated gene silencing 4	gene	DOID:14228	oligospermia		ISO	RGD:1322245	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:20940137
1311016	Gramd2b	GRAM domain containing 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311016	Gramd2b	GRAM domain containing 2B	gene	DOID:1115	sarcoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311016	Gramd2b	GRAM domain containing 2B	gene	DOID:1324	lung cancer		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311016	Gramd2b	GRAM domain containing 2B	gene	DOID:1909	melanoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311016	Gramd2b	GRAM domain containing 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311016	Gramd2b	GRAM domain containing 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604604	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311016	Gramd2b	GRAM domain containing 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311016	Gramd2b	GRAM domain containing 2B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311016	Gramd2b	GRAM domain containing 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311017	Utp6	UTP6 small subunit processome component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311017	Utp6	UTP6 small subunit processome component	gene	DOID:10534	stomach cancer		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311017	Utp6	UTP6 small subunit processome component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311017	Utp6	UTP6 small subunit processome component	gene	DOID:1324	lung cancer		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311017	Utp6	UTP6 small subunit processome component	gene	DOID:1909	melanoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311017	Utp6	UTP6 small subunit processome component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311017	Utp6	UTP6 small subunit processome component	gene	DOID:3070	high grade glioma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311017	Utp6	UTP6 small subunit processome component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311017	Utp6	UTP6 small subunit processome component	gene	DOID:5041	esophageal cancer		ISO	RGD:1603639	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311017	Utp6	UTP6 small subunit processome component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311017	Utp6	UTP6 small subunit processome component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311017	Utp6	UTP6 small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311017	Utp6	UTP6 small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311017	Utp6	UTP6 small subunit processome component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:12445	conjugate gaze palsy		ISO	RGD:1322248	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Conjugate gaze palsy	PMID:15105459|PMID:16525029|PMID:21850172|PMID:25741868|PMID:32373565|PMID:34374989
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:12849	autistic disorder		ISO	RGD:1322248	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18270976
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:1324	lung cancer		ISO	RGD:1322248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:13515	tuberous sclerosis		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tuberous sclerosis syndrome	
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:630	genetic disease		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:9000998	Brain Injuries		IEP		D	RGD:2316136|PMID:16262652	20100126	RGD		mRNA:increased expression:brain	
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:9004787	Familial Horizontal Gaze Palsy with Progressive Scoliosis		ISO	RGD:1322248	D	RGD:11554173	20190402	CTD		CTD Direct Evidence: marker/mechanism	
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:9004843	Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1		ISO	RGD:1322248	D	RGD:7240710	20190327	OMIM			
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:9004843	Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1		ISO	RGD:1322248	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 1 | ClinVar Annotator: match by term: ROBO3-related condition	PMID:15105459|PMID:16525029|PMID:16772357|PMID:18829051|PMID:19041479|PMID:19633821|PMID:21850172|PMID:24969490|PMID:25326635|PMID:25741868|PMID:27318526|PMID:27884173|PMID:28024310|PMID:28492532|PMID:29215389|PMID:32373565|PMID:32580277|PMID:34374989
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311018	Robo3	roundabout guidance receptor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311019	Plekhn1	pleckstrin homology domain containing N1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311019	Plekhn1	pleckstrin homology domain containing N1	gene	DOID:0080600	COVID-19		ISO	RGD:1604774	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311019	Plekhn1	pleckstrin homology domain containing N1	gene	DOID:10534	stomach cancer		ISO	RGD:1604774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311019	Plekhn1	pleckstrin homology domain containing N1	gene	DOID:1115	sarcoma		ISO	RGD:1604774	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311019	Plekhn1	pleckstrin homology domain containing N1	gene	DOID:1324	lung cancer		ISO	RGD:1604774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311019	Plekhn1	pleckstrin homology domain containing N1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311019	Plekhn1	pleckstrin homology domain containing N1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604774	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311019	Plekhn1	pleckstrin homology domain containing N1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311019	Plekhn1	pleckstrin homology domain containing N1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311019	Plekhn1	pleckstrin homology domain containing N1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311021	Arpin	actin-related protein 2/3 complex inhibitor	gene	DOID:0080600	COVID-19		ISO	RGD:1604167	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311021	Arpin	actin-related protein 2/3 complex inhibitor	gene	DOID:9256	colorectal cancer		ISO	RGD:1604167	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	PMID:28492532
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:1115	sarcoma		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:1324	lung cancer		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:3275	thymoma		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1322253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:6039	uveal melanoma		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311022	Gramd1a	GRAM domain containing 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311023	Dysf	dysferlin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311023	Dysf	dysferlin	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1322255	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB	PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:19084402|PMID:25741868|PMID:25821721
1311023	Dysf	dysferlin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311023	Dysf	dysferlin	gene	DOID:0060249	scoliosis		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:11468312|PMID:17698709|PMID:20301480|PMID:25741868|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:0060260	ptosis		ISO	RGD:1322255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:17698709|PMID:20301480|PMID:22297152|PMID:25741868|PMID:28492532|PMID:33250842
1311023	Dysf	dysferlin	gene	DOID:0070198	Miyoshi muscular dystrophy		ISO	RGD:1322255	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15535137|PMID:17868276
1311023	Dysf	dysferlin	gene	DOID:0070199	Miyoshi muscular dystrophy 1		ISO	RGD:1322255	D	RGD:7240710	20180912	OMIM			
1311023	Dysf	dysferlin	gene	DOID:0070199	Miyoshi muscular dystrophy 1		ISO	RGD:1322255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1	PMID:10766988|PMID:11198284|PMID:11468312|PMID:12767493|PMID:12796534|PMID:14673575|PMID:14678801|PMID:15469449|PMID:16010686|PMID:16100712|PMID:16199547|PMID:16891820|PMID:16934466|PMID:17070050|PMID:17576681|PMID:17698709|PMID:17994539|PMID:18853459|PMID:19493611|PMID:19528035|PMID:20301480|PMID:20497525|PMID:20544924|PMID:20623375|PMID:21522182|PMID:21816046|PMID:22057634|PMID:22194990|PMID:22297152|PMID:22910291|PMID:22995991|PMID:23243261|PMID:23254335|PMID:23406536|PMID:23530687|PMID:24033266|PMID:24123366|PMID:24803842|PMID:24838345|PMID:25135358|PMID:25312915|PMID:25326637|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25868377|PMID:26000923|PMID:2606004|PMID:26060040|PMID:26088049|PMID:26404900|PMID:26467025|PMID:26806107|PMID:27066573|PMID:27602406|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27884173|PMID:28403181|PMID:28492532|PMID:28877744|PMID:29138090|PMID:29382405|PMID:29970176|PMID:30028523|PMID:30107846|PMID:30564623|PMID:30919934|PMID:31268554|PMID:31475473|PMID:31517061|PMID:32400077|PMID:32576226|PMID:32751317|PMID:32906206|PMID:33031319|PMID:33215690|PMID:33250842|PMID:33610434|PMID:33715265|PMID:33751525|PMID:33927379|PMID:34559919|PMID:34624274|PMID:35028538|PMID:35047756|PMID:36319958|PMID:36672942|PMID:36983702|PMID:37188302|PMID:37366078|PMID:37688281|PMID:39678382|PMID:9536098|PMID:9731526
1311023	Dysf	dysferlin	gene	DOID:0081341	congenital myopathy 5		ISO	RGD:1322255	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Salih Myopathy	PMID:25741868|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1322255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: autosomal recessive limb-girdle muscular dystrophy	PMID:10766988|PMID:11198284|PMID:11468312|PMID:12796534|PMID:14673575|PMID:14678801|PMID:15469449|PMID:16010686|PMID:16100712|PMID:16199547|PMID:16934466|PMID:17070050|PMID:17512949|PMID:17576681|PMID:17698709|PMID:17897828|PMID:17994539|PMID:18276788|PMID:18306167|PMID:18392839|PMID:18832576|PMID:18853459|PMID:19309282|PMID:19528035|PMID:20301480|PMID:20497525|PMID:20544924|PMID:20981092|PMID:21522182|PMID:21816046|PMID:22057634|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22517428|PMID:22995991|PMID:23185377|PMID:23243261|PMID:23254335|PMID:23406536|PMID:23530687|PMID:24033266|PMID:24123366|PMID:24488599|PMID:24803842|PMID:25135358|PMID:25312915|PMID:25326637|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25868377|PMID:25987458|PMID:26000923|PMID:2606004|PMID:26060040|PMID:26077327|PMID:26088049|PMID:26404900|PMID:26467025|PMID:26671124|PMID:26806107|PMID:27066573|PMID:27602406|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27821570|PMID:27854218|PMID:27884173|PMID:28403181|PMID:28492532|PMID:28877744|PMID:29138090|PMID:29382405|PMID:29970176|PMID:30028523|PMID:30107846|PMID:30564623|PMID:30919934|PMID:31268554|PMID:31475473|PMID:31517061|PMID:31862442|PMID:32528171|PMID:32576226|PMID:32751317|PMID:33031319|PMID:33215690|PMID:33250842|PMID:33560664|PMID:33610434|PMID:33715265|PMID:33751525|PMID:33927379|PMID:34426522|PMID:34559919|PMID:34624274|PMID:35028538|PMID:36319958|PMID:36983702|PMID:37188302|PMID:37510298|PMID:37688281|PMID:39678382|PMID:9536098|PMID:9731526
1311023	Dysf	dysferlin	gene	DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B		ISO	RGD:1322255	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15535137
1311023	Dysf	dysferlin	gene	DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B		ISO	RGD:1322255	D	RGD:7240710	20130221	OMIM			
1311023	Dysf	dysferlin	gene	DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B		ISO	RGD:1322255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy type 2B | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3	PMID:10766988|PMID:11198284|PMID:11468312|PMID:12410383|PMID:12471055|PMID:12767493|PMID:12796534|PMID:14673575|PMID:14678801|PMID:15469449|PMID:15515206|PMID:15827562|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16705711|PMID:16891820|PMID:16934466|PMID:16996541|PMID:1707005|PMID:17070050|PMID:17129727|PMID:17562833|PMID:17576681|PMID:17698709|PMID:17726045|PMID:17828519|PMID:17897828|PMID:17932988|PMID:17994539|PMID:18306167|PMID:18392839|PMID:18808059|PMID:18832576|PMID:18853459|PMID:19493611|PMID:19528035|PMID:19594366|PMID:19953532|PMID:20301480|PMID:20497525|PMID:20535123|PMID:20544924|PMID:20558759|PMID:20595382|PMID:20623375|PMID:20817457|PMID:20981092|PMID:21173544|PMID:21392994|PMID:21484829|PMID:21522182|PMID:21816046|PMID:22057634|PMID:22174839|PMID:22194990|PMID:22297152|PMID:22517428|PMID:22616201|PMID:22910291|PMID:22995991|PMID:23185377|PMID:23243261|PMID:23254335|PMID:23406536|PMID:23488891|PMID:23519732|PMID:23530687|PMID:24033266|PMID:24123366|PMID:24488599|PMID:24803842|PMID:24838345|PMID:25046369|PMID:25133958|PMID:25135358|PMID:25312915|PMID:25326637|PMID:25493284|PMID:25525159|PMID:25574751|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25868377|PMID:25898921|PMID:25900324|PMID:25987458|PMID:26000923|PMID:2606004|PMID:26060040|PMID:26088049|PMID:26273692|PMID:26404900|PMID:26444858|PMID:26467025|PMID:26671124|PMID:26806107|PMID:26809617|PMID:26916285|PMID:27066573|PMID:27104310|PMID:27229680|PMID:27290639|PMID:27347015|PMID:27363342|PMID:27602406|PMID:2764718|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27821570|PMID:27858744|PMID:27884173|PMID:28403181|PMID:28492532|PMID:28877744|PMID:28904177|PMID:28904466|PMID:29138090|PMID:29382405|PMID:29792937|PMID:29797799|PMID:29799141|PMID:29879922|PMID:29970176|PMID:30028523|PMID:30107846|PMID:30439648|PMID:30564623|PMID:30919934|PMID:31019989|PMID:31066050|PMID:31268554|PMID:31407473|PMID:31439488|PMID:31475473|PMID:31517061|PMID:31693312|PMID:31822577|PMID:31862442|PMID:31931849|PMID:32153140|PMID:32400077|PMID:32528171|PMID:32576226|PMID:32751317|PMID:32906206|PMID:32934002|PMID:33031319|PMID:33059327|PMID:33215690|PMID:33250842|PMID:33560664|PMID:33610424|PMID:33610434|PMID:33613410|PMID:33715265|PMID:33751525|PMID:33927379|PMID:34281941|PMID:34440373|PMID:34559919|PMID:34624274|PMID:34628793|PMID:34758253|PMID:35028538|PMID:35047756|PMID:35135626|PMID:35175440|PMID:35723113|PMID:35725460|PMID:36012197|PMID:36319958|PMID:36374152|PMID:36580222|PMID:36672942|PMID:36983702|PMID:37188302|PMID:37366078|PMID:37526466|PMID:37688281|PMID:37716854|PMID:37852290|PMID:38057384|PMID:38125829|PMID:38374194|PMID:38758368|PMID:39678382|PMID:9536098|PMID:9731526
1311023	Dysf	dysferlin	gene	DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B		ISS	RGD:1322256	D	RGD:13592920	20230718	MouseDO		OMIM:253601	
1311023	Dysf	dysferlin	gene	DOID:0111187	distal myopathy with anterior tibial onset		ISO	RGD:1322255	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:15535137
1311023	Dysf	dysferlin	gene	DOID:0111187	distal myopathy with anterior tibial onset		ISO	RGD:1322255	D	RGD:7240710	20130221	OMIM			
1311023	Dysf	dysferlin	gene	DOID:0111187	distal myopathy with anterior tibial onset		ISO	RGD:1322255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset	PMID:11198284|PMID:11468312|PMID:12796534|PMID:14678801|PMID:15469449|PMID:16010686|PMID:16100712|PMID:16199547|PMID:16891820|PMID:16934466|PMID:17070050|PMID:17576681|PMID:17698709|PMID:17994539|PMID:18853459|PMID:19493611|PMID:19528035|PMID:20301480|PMID:20544924|PMID:21522182|PMID:21816046|PMID:22057634|PMID:22194990|PMID:22297152|PMID:22995991|PMID:23530687|PMID:24033266|PMID:24123366|PMID:24803842|PMID:24838345|PMID:25135358|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25868377|PMID:26404900|PMID:26467025|PMID:26806107|PMID:27066573|PMID:27602406|PMID:27647186|PMID:27666772|PMID:2766772|PMID:28403181|PMID:28492532|PMID:28877744|PMID:29382405|PMID:30028523|PMID:30107846|PMID:30564623|PMID:30919934|PMID:31268554|PMID:31475473|PMID:31517061|PMID:32751317|PMID:33215690|PMID:33250842|PMID:33610434|PMID:33715265|PMID:33927379|PMID:34559919|PMID:34624274|PMID:35028538|PMID:36672942|PMID:37188302|PMID:37366078|PMID:37688281|PMID:9536098|PMID:9731526
1311023	Dysf	dysferlin	gene	DOID:0111193	facioscapulohumeral muscular dystrophy 2		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weakness of facial musculature	PMID:25741868|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:10534	stomach cancer		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:18853459|PMID:25741868|PMID:26467025|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:17576681|PMID:24803842|PMID:25741868|PMID:28492532|PMID:9536098
1311023	Dysf	dysferlin	gene	DOID:1115	sarcoma		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1322255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:11468312|PMID:17070050|PMID:20623375|PMID:22194990|PMID:22910291|PMID:25741868|PMID:27884173|PMID:28492532|PMID:32906206|PMID:33927379|PMID:34559919|PMID:35047756
1311023	Dysf	dysferlin	gene	DOID:11720	distal myopathy		ISS	RGD:1322256	D	RGD:13592920	20180518	MouseDO		OMIM:160300 | OMIM:160500 | OMIM:254130 | OMIM:606768 | OMIM:607569 | OMIM:610099 | OMIM:613318 | OMIM:613319 | OMIM:614065 | OMIM:614321	
1311023	Dysf	dysferlin	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:25741868|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:11830	myopia		ISO	RGD:1322255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17698709|PMID:20301480|PMID:22297152|PMID:25741868|PMID:28492532|PMID:33250842
1311023	Dysf	dysferlin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11468312|PMID:17070050|PMID:20623375|PMID:22194990|PMID:22910291|PMID:25741868|PMID:27884173|PMID:28492532|PMID:32906206|PMID:33927379|PMID:34559919|PMID:35047756
1311023	Dysf	dysferlin	gene	DOID:1324	lung cancer		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:1459	hypothyroidism		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:17994539|PMID:25741868|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:1596	depressive disorder		ISO	RGD:1322255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:17698709|PMID:20301480|PMID:22297152|PMID:25741868|PMID:28492532|PMID:33250842
1311023	Dysf	dysferlin	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1322255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:16010686|PMID:17698709|PMID:20301480|PMID:25135358|PMID:25741868|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:1909	melanoma		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311023	Dysf	dysferlin	gene	DOID:2030	anxiety disorder		ISO	RGD:1322255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17698709|PMID:20301480|PMID:22297152|PMID:25741868|PMID:28492532|PMID:33250842
1311023	Dysf	dysferlin	gene	DOID:2394	ovarian cancer		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1311023	Dysf	dysferlin	gene	DOID:3275	thymoma		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:18853459|PMID:25741868|PMID:26467025|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:423	myopathy		ISO	RGD:1322255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:16100712|PMID:16891820|PMID:17698709|PMID:17994539|PMID:18853459|PMID:19084402|PMID:19528035|PMID:20301480|PMID:25741868|PMID:25821721|PMID:28403181|PMID:28492532|PMID:36672942|PMID:37366078
1311023	Dysf	dysferlin	gene	DOID:4362	cervical cancer		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:18853459|PMID:25741868|PMID:26467025|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311023	Dysf	dysferlin	gene	DOID:5041	esophageal cancer		ISO	RGD:1322255	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311023	Dysf	dysferlin	gene	DOID:540	strabismus		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:19084402|PMID:25741868|PMID:25821721
1311023	Dysf	dysferlin	gene	DOID:5419	schizophrenia		ISO	RGD:1322255	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1311023	Dysf	dysferlin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1311023	Dysf	dysferlin	gene	DOID:630	genetic disease		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14678801|PMID:16934466|PMID:17070050|PMID:19528035|PMID:21522182|PMID:22194990|PMID:24033266|PMID:25591676|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311023	Dysf	dysferlin	gene	DOID:6364	migraine		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:19084402|PMID:25741868|PMID:25821721
1311023	Dysf	dysferlin	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1322255	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1311023	Dysf	dysferlin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17698709|PMID:20301480|PMID:25741868|PMID:26467025|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:9000495	Tremor		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:19084402|PMID:25741868|PMID:25821721
1311023	Dysf	dysferlin	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:19084402|PMID:25741868|PMID:25821721
1311023	Dysf	dysferlin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322255	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311023	Dysf	dysferlin	gene	DOID:9003507	Premature Birth		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1322255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:17698709|PMID:20301480|PMID:22297152|PMID:25741868|PMID:28492532|PMID:33250842
1311023	Dysf	dysferlin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311023	Dysf	dysferlin	gene	DOID:9004518	Dysferlinopathy		ISO	RGD:1322255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysferlinopathy	PMID:10766988|PMID:11198284|PMID:12767493|PMID:14678801|PMID:16010686|PMID:16199547|PMID:16891820|PMID:16934466|PMID:17070050|PMID:17576681|PMID:17698709|PMID:17994539|PMID:18306167|PMID:18832576|PMID:18853459|PMID:19154541|PMID:19528035|PMID:20301480|PMID:20497525|PMID:21520333|PMID:21522182|PMID:22194990|PMID:23185377|PMID:23530687|PMID:24488599|PMID:25312915|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25868377|PMID:26467025|PMID:26671124|PMID:27066573|PMID:27195159|PMID:27602406|PMID:27647186|PMID:28492532|PMID:28877744|PMID:29382405|PMID:30107846|PMID:30564623|PMID:30919934|PMID:31475473|PMID:32528171|PMID:32751317|PMID:33059327|PMID:33144682|PMID:33215690|PMID:33610434|PMID:33751525|PMID:33927379|PMID:34559919|PMID:34624274|PMID:35028538|PMID:36983702|PMID:37688281|PMID:39678382|PMID:9536098|PMID:9731526
1311023	Dysf	dysferlin	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:17994539|PMID:25741868|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1322255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:16100712|PMID:16891820|PMID:17698709|PMID:18853459|PMID:19528035|PMID:20301480|PMID:25741868|PMID:28403181|PMID:28492532|PMID:36672942|PMID:37366078
1311023	Dysf	dysferlin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:19084402|PMID:25741868|PMID:25821721
1311023	Dysf	dysferlin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:18853459|PMID:25741868|PMID:26467025|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16199547|PMID:17698709|PMID:18853459|PMID:20301480|PMID:25741868|PMID:26467025|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:9256	colorectal cancer		ISO	RGD:1322255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:26467025|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:9452	steatotic liver disease		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:14678801|PMID:16934466|PMID:17070050|PMID:19528035|PMID:21522182|PMID:22194990|PMID:25741868|PMID:28492532
1311023	Dysf	dysferlin	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1322255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:19084402|PMID:25741868|PMID:25821721
1311023	Dysf	dysferlin	gene	DOID:9834	hyperopia		ISO	RGD:1322255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17698709|PMID:19084402|PMID:20301480|PMID:22297152|PMID:25741868|PMID:25821721|PMID:28492532|PMID:33250842
1311023	Dysf	dysferlin	gene	DOID:988	mitral valve prolapse		ISO	RGD:1322255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:11468312|PMID:17070050|PMID:20623375|PMID:22194990|PMID:22910291|PMID:25741868|PMID:27884173|PMID:28492532|PMID:32906206|PMID:33927379|PMID:34559919|PMID:35047756
1311023	Dysf	dysferlin	gene	DOID:9884	muscular dystrophy		ISO	RGD:1322255	D	RGD:1598789|PMID:9731526	20061219	RGD			
1311023	Dysf	dysferlin	gene	DOID:9884	muscular dystrophy		ISO	RGD:1322255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:17994539|PMID:21522182|PMID:24033266|PMID:25591676|PMID:25741868|PMID:27066573|PMID:27647186|PMID:27884173|PMID:28492532|PMID:29382405|PMID:30107846|PMID:34559919|PMID:35028538
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322257	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:1909	melanoma		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:3275	thymoma		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322257	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311024	Pum2	pumilio RNA-binding family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:0080132	Sengers syndrome		ISO	RGD:1607064	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Sengers syndrome	PMID:25741868
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:1115	sarcoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1607064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:1324	lung cancer		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:3275	thymoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:5041	esophageal cancer		ISO	RGD:1607064	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1607064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn errors of metabolism	PMID:25741868
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1607064	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:9001881	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME		ISO	RGD:1607064	D	RGD:7240710	20211103	OMIM			
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:9001881	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME		ISO	RGD:1607064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Triokinase and FMN cyclase deficiency syndrome	PMID:25741868
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1607064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311026	Tkfc	triokinase and FMN cyclase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311027	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311027	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311027	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:1115	sarcoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311027	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311027	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311027	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311027	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1605635	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311027	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311027	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311027	Dnai4	dynein axonemal intermediate chain 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311028	Arhgap21	Rho GTPase activating protein 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311028	Arhgap21	Rho GTPase activating protein 21	gene	DOID:10534	stomach cancer		ISO	RGD:1322263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311028	Arhgap21	Rho GTPase activating protein 21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311028	Arhgap21	Rho GTPase activating protein 21	gene	DOID:1115	sarcoma		ISO	RGD:1322263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311028	Arhgap21	Rho GTPase activating protein 21	gene	DOID:1324	lung cancer		ISO	RGD:1322263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311028	Arhgap21	Rho GTPase activating protein 21	gene	DOID:1909	melanoma		ISO	RGD:1322263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311028	Arhgap21	Rho GTPase activating protein 21	gene	DOID:3070	high grade glioma		ISO	RGD:1322263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311028	Arhgap21	Rho GTPase activating protein 21	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311028	Arhgap21	Rho GTPase activating protein 21	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311028	Arhgap21	Rho GTPase activating protein 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311028	Arhgap21	Rho GTPase activating protein 21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311028	Arhgap21	Rho GTPase activating protein 21	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311028	Arhgap21	Rho GTPase activating protein 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311028	Arhgap21	Rho GTPase activating protein 21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322263	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311030	Tmod3	tropomodulin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:35316010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311030	Tmod3	tropomodulin 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:35316010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311030	Tmod3	tropomodulin 3	gene	DOID:4362	cervical cancer		ISO	RGD:35316010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311030	Tmod3	tropomodulin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:35316010	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311030	Tmod3	tropomodulin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:35316010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311030	Tmod3	tropomodulin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:35316010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311030	Tmod3	tropomodulin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:35316010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311031	Clec3b	C-type lectin domain family 3, member B	gene	DOID:0070441	retinal macular dystrophy 4		ISO	RGD:1602501	D	RGD:7240710	20220810	OMIM			
1311031	Clec3b	C-type lectin domain family 3, member B	gene	DOID:0070441	retinal macular dystrophy 4		ISO	RGD:1602501	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MACULAR DYSTROPHY, RETINAL, 4	
1311031	Clec3b	C-type lectin domain family 3, member B	gene	DOID:13300	Scheuermann's disease		ISS	RGD:1553639	D	RGD:13592920	20180518	MouseDO		OMIM:181440	
1311031	Clec3b	C-type lectin domain family 3, member B	gene	DOID:8398	osteoarthritis	disease_progression	ISO	RGD:1602501	D	RGD:1625347|PMID:15334463	20070604	RGD			
1311031	Clec3b	C-type lectin domain family 3, member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311032	Cst9l	cystatin 9-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311034	Ethe1	ETHE1, persulfide dioxygenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311034	Ethe1	ETHE1, persulfide dioxygenase	gene	DOID:0060640	ethylmalonic encephalopathy		ISO	RGD:1322274	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311034	Ethe1	ETHE1, persulfide dioxygenase	gene	DOID:0060640	ethylmalonic encephalopathy		ISO	RGD:1322274	D	RGD:7240710	20130221	OMIM			
1311034	Ethe1	ETHE1, persulfide dioxygenase	gene	DOID:0060640	ethylmalonic encephalopathy		ISO	RGD:1322274	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, ETHYLMALONIC | ClinVar Annotator: match by term: Ethylmalonic encephalopathy | ClinVar Annotator: match by term: Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria	PMID:14732903|PMID:16183799|PMID:16199547|PMID:16828325|PMID:16906473|PMID:17353187|PMID:17576681|PMID:17712735|PMID:18593870|PMID:19136936|PMID:19136963|PMID:19289697|PMID:20528888|PMID:21410200|PMID:21472225|PMID:23144459|PMID:25058219|PMID:25198162|PMID:25596185|PMID:25741868|PMID:26194623|PMID:26917598|PMID:27391121|PMID:27629047|PMID:2777167|PMID:27771676|PMID:27830356|PMID:28492532|PMID:29625556|PMID:29980601|PMID:30298498|PMID:30838026|PMID:30864297|PMID:31477743|PMID:32111695|PMID:32362910|PMID:32485156|PMID:32860008|PMID:32923369|PMID:33639274|PMID:33900143|PMID:36891747|PMID:9536098
1311034	Ethe1	ETHE1, persulfide dioxygenase	gene	DOID:0060640	ethylmalonic encephalopathy		ISS	RGD:1322275	D	RGD:13592920	20230718	MouseDO		OMIM:602473	
1311034	Ethe1	ETHE1, persulfide dioxygenase	gene	DOID:5041	esophageal cancer		ISO	RGD:1322274	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311034	Ethe1	ETHE1, persulfide dioxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311034	Ethe1	ETHE1, persulfide dioxygenase	gene	DOID:630	genetic disease		ISO	RGD:1322274	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311034	Ethe1	ETHE1, persulfide dioxygenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311034	Ethe1	ETHE1, persulfide dioxygenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311035	Ffar3	free fatty acid receptor 3	gene	DOID:10825	essential hypertension		ISO	RGD:1322276	D	RGD:11554173	20221108	CTD		CTD Direct Evidence: marker/mechanism	PMID:34453990
1311035	Ffar3	free fatty acid receptor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311036	Zfyve21	zinc finger FYVE-type containing 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311036	Zfyve21	zinc finger FYVE-type containing 21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311036	Zfyve21	zinc finger FYVE-type containing 21	gene	DOID:3393	coronary artery disease		ISO	RGD:1322277	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Premature coronary artery atherosclerosis	PMID:25741868
1311036	Zfyve21	zinc finger FYVE-type containing 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311037	Crls1	cardiolipin synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311037	Crls1	cardiolipin synthase 1	gene	DOID:0070430	combined oxidative phosphorylation deficiency 57		ISO	RGD:1322279	D	RGD:7240710	20230125	OMIM			
1311037	Crls1	cardiolipin synthase 1	gene	DOID:0070430	combined oxidative phosphorylation deficiency 57		ISO	RGD:1322279	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57	
1311037	Crls1	cardiolipin synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311037	Crls1	cardiolipin synthase 1	gene	DOID:1324	lung cancer		ISO	RGD:1322279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311037	Crls1	cardiolipin synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311037	Crls1	cardiolipin synthase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311037	Crls1	cardiolipin synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311037	Crls1	cardiolipin synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1322283	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8075643
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1322283	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:28492532|PMID:30718709
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1322283	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:18310263|PMID:25356976|PMID:25741868|PMID:28492532|PMID:31054281
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:1322283	D	RGD:7240710	20140911	OMIM			
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:1322283	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PDE6B-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 40 | ClinVar Annotator: match by term: Retinitis pigmentosa 40	PMID:16199547|PMID:17576681|PMID:18310263|PMID:18723146|PMID:21655355|PMID:22334370|PMID:24123792|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25472526|PMID:25741868|PMID:25999674|PMID:26667666|PMID:26868535|PMID:26872967|PMID:27588261|PMID:27596865|PMID:27898983|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29625443|PMID:30718709|PMID:30924848|PMID:30998820|PMID:31054281|PMID:31877679|PMID:31964843|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33302505|PMID:33576794|PMID:33673512|PMID:33691693|PMID:34828430|PMID:34906470|PMID:36460718|PMID:36819107|PMID:38219857|PMID:7599633|PMID:8394174|PMID:8595886|PMID:8956055|PMID:9536098
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:0110375	retinitis pigmentosa 40		ISS	RGD:1322284	D	RGD:13592920	20230718	MouseDO		OMIM:613801	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:0110863	congenital stationary night blindness autosomal dominant 2		ISO	RGD:1322283	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:0110863	congenital stationary night blindness autosomal dominant 2		ISO	RGD:1322283	D	RGD:7240710	20130221	OMIM			
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:0110863	congenital stationary night blindness autosomal dominant 2		ISO	RGD:1322283	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE	PMID:18723146|PMID:25097241|PMID:25741868|PMID:26868535|PMID:28492532|PMID:30029497|PMID:30924848|PMID:31877679|PMID:33691693
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:0110863	congenital stationary night blindness autosomal dominant 2		ISS	RGD:1322284	D	RGD:13592920	20230718	MouseDO		OMIM:163500	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:0111009	cone-rod dystrophy 1		ISO	RGD:12073166	D	RGD:9068941	20250501	OMIA		Retinal atrophy - Cone-rod dystrophy 1	PMID:15064680|PMID:22065099|PMID:24045995|PMID:30050836|PMID:38028226|PMID:38334230
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10283	prostate cancer		ISO	RGD:1322283	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10283	prostate cancer		ISO	RGD:1322283	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		IMP		D	RGD:40924664|PMID:31009522	20210304	RGD		compared to wild-type	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8394174
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:25999674|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30718709|PMID:30998820|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:33090715|PMID:33576794|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:36909829|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27596865|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:36909829|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27596865|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31456290|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:35836572|PMID:36460718|PMID:36819107|PMID:36909829|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27596865|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31456290|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:35272565|PMID:35836572|PMID:36460718|PMID:36819107|PMID:36909829|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27596865|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31456290|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:35272565|PMID:35836572|PMID:36460718|PMID:36819107|PMID:36909829|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10234513|PMID:16199547|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:24033266|PMID:24339724|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25741868|PMID:25827439|PMID:26155838|PMID:26497376|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28912962|PMID:30029497|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31456290|PMID:31630094|PMID:32483926|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:36464167|PMID:36819107|PMID:36909829|PMID:39676705|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9536098|PMID:9543643
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:24339724|PMID:24625443|PMID:25324289|PMID:25356976|PMID:25741868|PMID:25827439|PMID:26155838|PMID:27874104|PMID:28041643|PMID:28492532|PMID:29785639|PMID:30029497|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31456290|PMID:31630094|PMID:32483926|PMID:32531858|PMID:33090715|PMID:33673512|PMID:34906470|PMID:36464167|PMID:36819107|PMID:36909829|PMID:39676705|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9536098|PMID:9543643
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322284	D	RGD:8657407|PMID:17267005	20140609	RGD			
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISS	RGD:1322284	D	RGD:13592920	20230718	MouseDO			
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:1115	sarcoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:1909	melanoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:3275	thymoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:4362	cervical cancer		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:4448	macular degeneration		ISO	RGD:1322283	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:25741868|PMID:28492532
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:5041	esophageal cancer		ISO	RGD:1322283	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:630	genetic disease		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:8466	retinal degeneration		ISO	RGD:1322283	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8692941|PMID:16123450|PMID:17213800|PMID:24586289
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:8466	retinal degeneration		ISS	RGD:1322284	D	RGD:13592920	20230718	MouseDO			
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:8499	night blindness		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Night blindness	PMID:18310263|PMID:25356976|PMID:25741868|PMID:28492532|PMID:31054281
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322283	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:17267005|PMID:18310263|PMID:18854872|PMID:21655355|PMID:22334370|PMID:24033266|PMID:24265693|PMID:25097241|PMID:25356976|PMID:25472526|PMID:25741868|PMID:25823529|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27898983|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29641573|PMID:30029497|PMID:30609409|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30924848|PMID:30998820|PMID:31054281|PMID:31429209|PMID:3145629|PMID:31630094|PMID:31964843|PMID:32037395|PMID:3253185|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33302505|PMID:33673512|PMID:33691693|PMID:34721897|PMID:34758253|PMID:34906470|PMID:35836572|PMID:36460718|PMID:36819107|PMID:37094557|PMID:7724547|PMID:8394174|PMID:8595886|PMID:8956055
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:9002189	High Myopia		ISO	RGD:1322283	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Severe Myopia	PMID:28492532
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1322283	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17213800
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322283	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311039	Pde6b	phosphodiesterase 6B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311040	Gbp5	guanylate binding protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311040	Gbp5	guanylate binding protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311040	Gbp5	guanylate binding protein 5	gene	DOID:10608	celiac disease		ISO	RGD:1322285	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
1311040	Gbp5	guanylate binding protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311040	Gbp5	guanylate binding protein 5	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1322285	D	RGD:11055351|PMID:26025597	20260313	RGD		associated with lung disease;mRNA:decreased expression:blood	
1311040	Gbp5	guanylate binding protein 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311040	Gbp5	guanylate binding protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311040	Gbp5	guanylate binding protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1322285	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311040	Gbp5	guanylate binding protein 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311040	Gbp5	guanylate binding protein 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322285	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1311040	Gbp5	guanylate binding protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311040	Gbp5	guanylate binding protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311041	Arid5a	AT-rich interaction domain 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311041	Arid5a	AT-rich interaction domain 5A	gene	DOID:10534	stomach cancer		ISO	RGD:1322287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311041	Arid5a	AT-rich interaction domain 5A	gene	DOID:3275	thymoma		ISO	RGD:1322287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311041	Arid5a	AT-rich interaction domain 5A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311042	Fmnl1	formin-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311042	Fmnl1	formin-like 1	gene	DOID:0060058	lymphoma		ISO	RGD:1322289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311042	Fmnl1	formin-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311042	Fmnl1	formin-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1322289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311042	Fmnl1	formin-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322289	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311042	Fmnl1	formin-like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311042	Fmnl1	formin-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311042	Fmnl1	formin-like 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322289	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311042	Fmnl1	formin-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311042	Fmnl1	formin-like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1322290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:17478638|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:26866830|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short ribs	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:0060058	lymphoma		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:0060479	Shwachman-Diamond syndrome		ISO	RGD:1322290	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:0060479	Shwachman-Diamond syndrome		ISO	RGD:1322290	D	RGD:1599541|PMID:12496757	20070207	RGD		DNA:mutations:multiple	
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:0060479	Shwachman-Diamond syndrome		ISO	RGD:1322290	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SHWACHMAN-DIAMOND SYNDROME 1 | ClinVar Annotator: match by term: Shwachman-Diamond syndrome | ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15701631|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:17916435|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21536732|PMID:21695142|PMID:22491737|PMID:22934832|PMID:22935661|PMID:23115272|PMID:23351992|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:24898207|PMID:25402872|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26479198|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:28102861|PMID:28509441|PMID:29892551|PMID:30198570|PMID:30545121|PMID:31321910|PMID:31589614|PMID:32150944|PMID:32581362|PMID:32888943|PMID:33607811|PMID:33871916|PMID:34308104|PMID:34625797|PMID:34704233|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:39052144|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:0060479	Shwachman-Diamond syndrome		ISS	RGD:1322291	D	RGD:13592920	20230718	MouseDO		OMIM:260400	
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:0060479	Shwachman-Diamond syndrome	susceptibility	ISO	RGD:1322290	D	RGD:7240710	20260805	OMIM			
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:1059	intellectual disability		ISO	RGD:1322290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:17478638|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:26866830|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:1059	intellectual disability		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:1074	kidney failure		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:10892	hypospadias		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:10907	microcephaly		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:10965	spastic diplegia		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:1115	sarcoma		ISO	RGD:1322290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:11175	enophthalmos		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Enophthalmos	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:11717	neonatal diabetes mellitus		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal diabetes	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:1240	leukemia		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leukemia	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:12449	aplastic anemia		ISO	RGD:1322290	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:12449	aplastic anemia		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aplastic anemia | ClinVar Annotator: match by term: SBDS-related condition	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22491737|PMID:22934832|PMID:22935661|PMID:23115272|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:30308536|PMID:30545121|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:12449	aplastic anemia	susceptibility	ISO	RGD:1322290	D	RGD:7240710	20260805	OMIM			
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:12849	autistic disorder		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:12859	choreatic disease		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Exocrine pancreatic insufficiency	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:1909	melanoma		ISO	RGD:1322290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:1969	cerebral palsy		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:2355	anemia		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:2394	ovarian cancer		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:255	hemangioma		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:2846	bruxism		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:4362	cervical cancer		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:480	movement disease		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:4989	pancreatitis		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pancreatitis	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:6132	bronchitis		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent bronchitis	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:630	genetic disease		ISO	RGD:1322290	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:31589614|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34308104|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:8741	seborrheic dermatitis		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seborrheic dermatitis	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:30545121|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9001581	Constipation		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9001722	Dysarthria		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1322290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868|PMID:30545121
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9002720	Splenomegaly		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Enlarged Spleen	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322290	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9005616	Micrognathism		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322290	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9007212	Anodontia of Permanent Dentition		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anodontia of permanent dentition	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:24898207|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9008675	Dyskinesias		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9009132	Glutaric Aciduria		ISO	RGD:1322290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glutaric aciduria	PMID:25741868|PMID:30545121
1311043	Sbds	Sbds, ribosome maturation factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322290	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17376737|PMID:19148133|PMID:19222471|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24330988|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26866830|PMID:27127007|PMID:27290639|PMID:27418648|PMID:32150944|PMID:32581362|PMID:32888943|PMID:34758064|PMID:35322185|PMID:35893049|PMID:36254235|PMID:36512530|PMID:36835434|PMID:37474001|PMID:38240987|PMID:38311561|PMID:40209608
1311045	Pacrgl	parkin coregulated like	gene	DOID:1909	melanoma		ISO	RGD:1605875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311045	Pacrgl	parkin coregulated like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311045	Pacrgl	parkin coregulated like	gene	DOID:3275	thymoma		ISO	RGD:1605875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311045	Pacrgl	parkin coregulated like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605875	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311045	Pacrgl	parkin coregulated like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605875	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311045	Pacrgl	parkin coregulated like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311045	Pacrgl	parkin coregulated like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311045	Pacrgl	parkin coregulated like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311045	Pacrgl	parkin coregulated like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311046	Tmprss15	transmembrane serine protease 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311046	Tmprss15	transmembrane serine protease 15	gene	DOID:0111667	enterokinase deficiency		ISO	RGD:1322295	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311046	Tmprss15	transmembrane serine protease 15	gene	DOID:0111667	enterokinase deficiency		ISO	RGD:1322295	D	RGD:7240710	20190315	OMIM			
1311046	Tmprss15	transmembrane serine protease 15	gene	DOID:0111667	enterokinase deficiency		ISO	RGD:1322295	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital enteropathy due to enteropeptidase deficiency | ClinVar Annotator: match by term: ENTEROKINASE DEFICIENCY | ClinVar Annotator: match by term: Enterokinase deficiency | ClinVar Annotator: match by term: TMPRSS15-related condition | ClinVar Annotator: match by term: congenital enteropathy due to enteropeptidase deficiency	PMID:11719902|PMID:16199547|PMID:25741868|PMID:28492532|PMID:34106441
1311046	Tmprss15	transmembrane serine protease 15	gene	DOID:10534	stomach cancer		ISO	RGD:1322295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311046	Tmprss15	transmembrane serine protease 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311046	Tmprss15	transmembrane serine protease 15	gene	DOID:4362	cervical cancer		ISO	RGD:1322295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311046	Tmprss15	transmembrane serine protease 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311046	Tmprss15	transmembrane serine protease 15	gene	DOID:9004324	Congenital, Hereditary, and Neonatal Diseases and Abnormalities		ISO	RGD:1322295	D	RGD:1599212|PMID:11719902	20070119	RGD			
1311046	Tmprss15	transmembrane serine protease 15	gene	DOID:9008385	Vomiting		ISO	RGD:1322295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:11719902|PMID:25741868|PMID:28492532
1311046	Tmprss15	transmembrane serine protease 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311046	Tmprss15	transmembrane serine protease 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311046	Tmprss15	transmembrane serine protease 15	gene	DOID:9452	steatotic liver disease		ISO	RGD:1322295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:11719902|PMID:25741868|PMID:28492532
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:10534	stomach cancer		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:1115	sarcoma		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:12849	autistic disorder		ISO	RGD:1322297	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:1324	lung cancer		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:1909	melanoma		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:3275	thymoma		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:4362	cervical cancer		ISO	RGD:1322297	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322297	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1322297	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322297	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322297	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311047	Sptbn5	spectrin, beta, non-erythrocytic 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311048	Rnf7	ring finger protein 7	gene	DOID:10534	stomach cancer		ISO	RGD:1322298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311048	Rnf7	ring finger protein 7	gene	DOID:1324	lung cancer		ISO	RGD:1322298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311048	Rnf7	ring finger protein 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311048	Rnf7	ring finger protein 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1322298	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311048	Rnf7	ring finger protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311048	Rnf7	ring finger protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311048	Rnf7	ring finger protein 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311049	Clip4	CAP-GLY domain containing linker protein family, member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311049	Clip4	CAP-GLY domain containing linker protein family, member 4	gene	DOID:1324	lung cancer		ISO	RGD:1350068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311049	Clip4	CAP-GLY domain containing linker protein family, member 4	gene	DOID:1909	melanoma		ISO	RGD:1350068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311049	Clip4	CAP-GLY domain containing linker protein family, member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1350068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311049	Clip4	CAP-GLY domain containing linker protein family, member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311049	Clip4	CAP-GLY domain containing linker protein family, member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311049	Clip4	CAP-GLY domain containing linker protein family, member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311049	Clip4	CAP-GLY domain containing linker protein family, member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311050	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322301	D	RGD:9590163|PMID:23055267	20161025	RGD		DNA:missense mutations:cds:	
1311050	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311050	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311050	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:1115	sarcoma		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311050	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:1909	melanoma		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311050	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311050	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311050	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311050	Mbd6	methyl-CpG binding domain protein 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311051	Ppil4	peptidylprolyl isomerase like 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311051	Ppil4	peptidylprolyl isomerase like 4	gene	DOID:1115	sarcoma		ISO	RGD:1322302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311051	Ppil4	peptidylprolyl isomerase like 4	gene	DOID:1324	lung cancer		ISO	RGD:1322302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311051	Ppil4	peptidylprolyl isomerase like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311051	Ppil4	peptidylprolyl isomerase like 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311051	Ppil4	peptidylprolyl isomerase like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311051	Ppil4	peptidylprolyl isomerase like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311052	Nup160	nucleoporin 160	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311052	Nup160	nucleoporin 160	gene	DOID:0080394	nephrotic syndrome type 19		ISO	RGD:1322303	D	RGD:7240710	20190315	OMIM			
1311052	Nup160	nucleoporin 160	gene	DOID:0080394	nephrotic syndrome type 19		ISO	RGD:1322303	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: NUP160-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 19	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30179222|PMID:9536098
1311052	Nup160	nucleoporin 160	gene	DOID:10534	stomach cancer		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311052	Nup160	nucleoporin 160	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311052	Nup160	nucleoporin 160	gene	DOID:1115	sarcoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311052	Nup160	nucleoporin 160	gene	DOID:1324	lung cancer		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311052	Nup160	nucleoporin 160	gene	DOID:13533	osteopetrosis		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopetrosis	PMID:25741868
1311052	Nup160	nucleoporin 160	gene	DOID:1909	melanoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311052	Nup160	nucleoporin 160	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311052	Nup160	nucleoporin 160	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311052	Nup160	nucleoporin 160	gene	DOID:4362	cervical cancer		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311052	Nup160	nucleoporin 160	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311052	Nup160	nucleoporin 160	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311052	Nup160	nucleoporin 160	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311052	Nup160	nucleoporin 160	gene	DOID:9003566	Mesothelioma		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1311052	Nup160	nucleoporin 160	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311052	Nup160	nucleoporin 160	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311053	Dux4	double homeobox 4	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:8663052	D	RGD:11554173	20210601	CTD		CTD Direct Evidence: marker/mechanism	PMID:27019113
1311053	Dux4	double homeobox 4	gene	DOID:11727	facioscapulohumeral muscular dystrophy		ISO	RGD:8663052	D	RGD:11554173	20210601	CTD		CTD Direct Evidence: marker/mechanism	PMID:22796148
1311053	Dux4	double homeobox 4	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:8663052	D	RGD:11554173	20210601	CTD		CTD Direct Evidence: marker/mechanism	PMID:27776115
1311055	Gins2	GINS complex subunit 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1602113	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1311055	Gins2	GINS complex subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1602113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311055	Gins2	GINS complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1602113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311055	Gins2	GINS complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311055	Gins2	GINS complex subunit 2	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1602113	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1311055	Gins2	GINS complex subunit 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311055	Gins2	GINS complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311056	Eef1e1	eukaryotic translation elongation factor 1 epsilon 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322308	D	RGD:10401218|PMID:21789020	20151002	RGD		protein:decreased expression:stomach:	
1311056	Eef1e1	eukaryotic translation elongation factor 1 epsilon 1	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1322308	D	RGD:10401219|PMID:24917520	20151002	RGD		protein:decreased expression:urothelium:	
1311056	Eef1e1	eukaryotic translation elongation factor 1 epsilon 1	gene	DOID:3911	progeria		ISO	RGD:1322309	D	RGD:10401221|PMID:20726853	20151002	RGD			
1311056	Eef1e1	eukaryotic translation elongation factor 1 epsilon 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322308	D	RGD:10401218|PMID:21789020	20151002	RGD		protein:decreased expression:colorectum:	
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:1324	lung cancer		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:1909	melanoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:3008	invasive ductal carcinoma	disease_progression	ISO	RGD:1322310	D	RGD:2289400|PMID:15592684	20080410	RGD			
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1322310	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:6039	uveal melanoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1322310	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: therapeutic	PMID:27501413
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1322310	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: therapeutic	PMID:27501413
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311057	Brms1	BRMS1, transcriptional repressor and anoikis regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:699	mitochondrial myopathy		ISS	RGD:1322313	D	RGD:13592920	20191128	MouseDO		OMIM:251900	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311058	Adck2	aarF domain containing kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311060	Ctps1	CTP synthase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311060	Ctps1	CTP synthase 1	gene	DOID:0050625	biliary tract benign neoplasm		ISO	RGD:1322315	D	RGD:2317903|PMID:12819026	20110601	RGD		mRNA:increased expression:biliary tract neoplasm (human)	
1311060	Ctps1	CTP synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1311060	Ctps1	CTP synthase 1	gene	DOID:0111938	immunodeficiency 24		ISO	RGD:1322315	D	RGD:7240710	20170503	OMIM			
1311060	Ctps1	CTP synthase 1	gene	DOID:0111938	immunodeficiency 24		ISO	RGD:1322315	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: CTPS1-related condition | ClinVar Annotator: match by term: Immunodeficiency 24	PMID:17576681|PMID:28492532|PMID:9536098
1311060	Ctps1	CTP synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311060	Ctps1	CTP synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311060	Ctps1	CTP synthase 1	gene	DOID:1909	melanoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1311060	Ctps1	CTP synthase 1	gene	DOID:3275	thymoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1311060	Ctps1	CTP synthase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1311060	Ctps1	CTP synthase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1311060	Ctps1	CTP synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:24870241|PMID:25741868|PMID:27638562|PMID:28492532|PMID:32161190|PMID:9536098
1311060	Ctps1	CTP synthase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1311060	Ctps1	CTP synthase 1	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:1322315	D	RGD:5132859|PMID:19302751	20110601	RGD		mRNA:increased expression:nasopharynx (human)	
1311060	Ctps1	CTP synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1311060	Ctps1	CTP synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
1311060	Ctps1	CTP synthase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311060	Ctps1	CTP synthase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1311061	Zc3h6	zinc finger CCCH type containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322317	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311061	Zc3h6	zinc finger CCCH type containing 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311061	Zc3h6	zinc finger CCCH type containing 6	gene	DOID:1909	melanoma		ISO	RGD:1322317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311061	Zc3h6	zinc finger CCCH type containing 6	gene	DOID:3275	thymoma		ISO	RGD:1322317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311061	Zc3h6	zinc finger CCCH type containing 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311061	Zc3h6	zinc finger CCCH type containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1322317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311061	Zc3h6	zinc finger CCCH type containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322317	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311061	Zc3h6	zinc finger CCCH type containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311061	Zc3h6	zinc finger CCCH type containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311061	Zc3h6	zinc finger CCCH type containing 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311062	Tulp1	TUB like protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311062	Tulp1	TUB like protein 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:15024725|PMID:19339744|PMID:23847139|PMID:24265693|PMID:25074776|PMID:25342620|PMID:25741868|PMID:26047050|PMID:28492532|PMID:29843741|PMID:31549751|PMID:32531858|PMID:34588515|PMID:36729443|PMID:38841332
1311062	Tulp1	TUB like protein 1	gene	DOID:0110078	Leber congenital amaurosis 1		ISO	RGD:1322319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 1	PMID:17620573|PMID:21792230|PMID:23661368|PMID:25741868|PMID:26856745|PMID:28492532|PMID:28559085|PMID:29178942|PMID:33691693|PMID:33851411
1311062	Tulp1	TUB like protein 1	gene	DOID:0110189	Leber congenital amaurosis 15		ISO	RGD:1322319	D	RGD:7240710	20130221	OMIM			
1311062	Tulp1	TUB like protein 1	gene	DOID:0110189	Leber congenital amaurosis 15		ISO	RGD:1322319	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 15 | ClinVar Annotator: match by term: Leber congenital amaurosis 15 | ClinVar Annotator: match by term: TULP1-related condition	PMID:10549638|PMID:15024725|PMID:17576681|PMID:18055821|PMID:19339744|PMID:21792230|PMID:22665969|PMID:23847139|PMID:24154662|PMID:24265693|PMID:25074776|PMID:25342620|PMID:25741868|PMID:26047050|PMID:26448634|PMID:26856745|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29641573|PMID:29843741|PMID:30902645|PMID:30950243|PMID:31087526|PMID:31549751|PMID:31630094|PMID:3203739|PMID:32037395|PMID:32483926|PMID:32531858|PMID:33576794|PMID:34588515|PMID:36729443|PMID:36819107|PMID:38841332|PMID:38892339|PMID:8606774|PMID:9462750|PMID:9536098
1311062	Tulp1	TUB like protein 1	gene	DOID:0110381	retinitis pigmentosa 14		ISO	RGD:1322319	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311062	Tulp1	TUB like protein 1	gene	DOID:0110381	retinitis pigmentosa 14		ISO	RGD:1322319	D	RGD:7240710	20130425	OMIM			
1311062	Tulp1	TUB like protein 1	gene	DOID:0110381	retinitis pigmentosa 14		ISO	RGD:1322319	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 14 | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED | ClinVar Annotator: match by term: Retinitis pigmentosa 14	PMID:10549638|PMID:15024725|PMID:16199547|PMID:17576681|PMID:17620573|PMID:18055821|PMID:19339744|PMID:22665969|PMID:23661368|PMID:23847139|PMID:24154662|PMID:24265693|PMID:25074776|PMID:25268133|PMID:25342620|PMID:2552515|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26427415|PMID:26987071|PMID:28492532|PMID:29843741|PMID:30950243|PMID:31213501|PMID:31429209|PMID:31549751|PMID:3203739|PMID:32037395|PMID:32483926|PMID:32531858|PMID:33921607|PMID:34588515|PMID:34906470|PMID:36284460|PMID:36729443|PMID:38540785|PMID:38841332|PMID:8606774|PMID:9462750|PMID:9536098
1311062	Tulp1	TUB like protein 1	gene	DOID:0110381	retinitis pigmentosa 14		ISS	RGD:1322320	D	RGD:13592920	20230718	MouseDO		OMIM:600132	
1311062	Tulp1	TUB like protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322319	D	RGD:1624352|PMID:9462750	20070510	RGD		RP14,OMIM:600132;DNA:point mutations:exon:R420P, F491L,I459K	
1311062	Tulp1	TUB like protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322319	D	RGD:8547535|PMID:23701314	20140217	RGD			
1311062	Tulp1	TUB like protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322319	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:17576681|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:22605927|PMID:23105016|PMID:23847139|PMID:24033266|PMID:24265693|PMID:25324289|PMID:25342276|PMID:25342620|PMID:25692139|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:29625443|PMID:29843741|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31630094|PMID:32531858|PMID:32901917|PMID:33090715|PMID:33173045|PMID:33576794|PMID:33946315|PMID:34906470|PMID:36909829|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588
1311062	Tulp1	TUB like protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322319	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10549638|PMID:15024725|PMID:15557452|PMID:17576681|PMID:18055821|PMID:25324289|PMID:25741868|PMID:26355662|PMID:28492532|PMID:28981474|PMID:30337596|PMID:30718709|PMID:32037395|PMID:32483926|PMID:32901917|PMID:33090715|PMID:33691693|PMID:33946315|PMID:34906470|PMID:36819107|PMID:36909829|PMID:8606774|PMID:9462751|PMID:9536098
1311062	Tulp1	TUB like protein 1	gene	DOID:11830	myopia		ISO	RGD:1322319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:29178942
1311062	Tulp1	TUB like protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311062	Tulp1	TUB like protein 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10549638|PMID:15024725|PMID:17620573|PMID:18055821|PMID:19339744|PMID:22665969|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24474277|PMID:25074776|PMID:25741868|PMID:26103963|PMID:28492532|PMID:29843741|PMID:30950243|PMID:31456290|PMID:31549751|PMID:31736247|PMID:32531858|PMID:33921607|PMID:34588515|PMID:34906470|PMID:38540785|PMID:38841332|PMID:8606774
1311062	Tulp1	TUB like protein 1	gene	DOID:3275	thymoma		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311062	Tulp1	TUB like protein 1	gene	DOID:630	genetic disease		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311062	Tulp1	TUB like protein 1	gene	DOID:8499	night blindness		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Night blindness	PMID:25342620|PMID:25741868|PMID:26047050|PMID:28492532|PMID:29843741|PMID:36729443
1311062	Tulp1	TUB like protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322319	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10549638|PMID:15024725|PMID:17576681|PMID:18055821|PMID:18432314|PMID:18936139|PMID:19339744|PMID:20065226|PMID:21987678|PMID:22605927|PMID:23591405|PMID:23847139|PMID:24154662|PMID:24265693|PMID:24547928|PMID:25074776|PMID:25268133|PMID:25342620|PMID:25741868|PMID:26047050|PMID:27375279|PMID:27440997|PMID:28418496|PMID:28492532|PMID:29068479|PMID:29178642|PMID:29641573|PMID:29843741|PMID:31054281|PMID:31213501|PMID:31456290|PMID:31549751|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31877759|PMID:31964843|PMID:3203739|PMID:32037395|PMID:32483926|PMID:32531858|PMID:33173045|PMID:33749171|PMID:33781268|PMID:33921607|PMID:34426522|PMID:34588515|PMID:34758253|PMID:35672425|PMID:36284460|PMID:36460718|PMID:36729443|PMID:37510321|PMID:38841332|PMID:8606774|PMID:9462750|PMID:9536098|PMID:9660588
1311062	Tulp1	TUB like protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311062	Tulp1	TUB like protein 1	gene	DOID:9649	congenital nystagmus		ISO	RGD:1322319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:25741868|PMID:29178942
1311065	Tekt2	tektin 2	gene	DOID:1115	sarcoma		ISO	RGD:1322323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311065	Tekt2	tektin 2	gene	DOID:3275	thymoma		ISO	RGD:1322323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311065	Tekt2	tektin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311065	Tekt2	tektin 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311065	Tekt2	tektin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311065	Tekt2	tektin 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311065	Tekt2	tektin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311065	Tekt2	tektin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311066	Aar2	AAR2 splicing factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311066	Aar2	AAR2 splicing factor	gene	DOID:10907	microcephaly		ISO	RGD:1322325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1311066	Aar2	AAR2 splicing factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311066	Aar2	AAR2 splicing factor	gene	DOID:1115	sarcoma		ISO	RGD:1322325	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311066	Aar2	AAR2 splicing factor	gene	DOID:13620	patent foramen ovale		ISO	RGD:1322325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	
1311066	Aar2	AAR2 splicing factor	gene	DOID:1657	ventricular septal defect		ISO	RGD:1322325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1311066	Aar2	AAR2 splicing factor	gene	DOID:4362	cervical cancer		ISO	RGD:1322325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311066	Aar2	AAR2 splicing factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322325	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1311067	Srsf10	serine and arginine rich splicing factor 10	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1322327	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1311067	Srsf10	serine and arginine rich splicing factor 10	gene	DOID:4362	cervical cancer		ISO	RGD:1322327	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311067	Srsf10	serine and arginine rich splicing factor 10	gene	DOID:4448	macular degeneration		ISO	RGD:1322327	D	RGD:11038792|PMID:24098751	20160301	RGD		protein:increased expression:retina (human)	
1311067	Srsf10	serine and arginine rich splicing factor 10	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1322327	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21072693
1311067	Srsf10	serine and arginine rich splicing factor 10	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1322327	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21072693
1311068	Fezf2	Fez family zinc finger 2	gene	DOID:0060793	hypomyelinating leukodystrophy 5		ISO	RGD:1346685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract	PMID:15188439|PMID:19404256|PMID:25741868|PMID:38425142
1311068	Fezf2	Fez family zinc finger 2	gene	DOID:1059	intellectual disability		ISO	RGD:1346685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:38425142
1311068	Fezf2	Fez family zinc finger 2	gene	DOID:10907	microcephaly		ISO	RGD:1346685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:38425142
1311068	Fezf2	Fez family zinc finger 2	gene	DOID:1826	epilepsy		ISO	RGD:1346685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:38425142
1311068	Fezf2	Fez family zinc finger 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346685	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:38425142
1311068	Fezf2	Fez family zinc finger 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:38425142
1311068	Fezf2	Fez family zinc finger 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1346685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:38425142
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:0050902	medulloblastoma		ISO	RGD:1322330	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:0061005	congenital amegakaryocytic thrombocytopenia 1		ISO	RGD:1322330	D	RGD:7240710	20230906	OMIM			
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:0061005	congenital amegakaryocytic thrombocytopenia 1		ISO	RGD:1322330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 1 | ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia 1	PMID:10971406|PMID:11133753|PMID:14764528|PMID:16470591|PMID:19036112|PMID:21659346|PMID:24119002|PMID:24438083|PMID:24728327|PMID:25538044|PMID:25741868|PMID:26423830|PMID:27069254|PMID:28034873|PMID:28492532|PMID:28859041|PMID:28955303|PMID:32703794|PMID:32935436|PMID:35791502|PMID:37291213|PMID:971406
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1322330	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29047144
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:0090118	congenital amegakaryocytic thrombocytopenia		ISO	RGD:1322330	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:0090118	congenital amegakaryocytic thrombocytopenia		ISO	RGD:1322330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia | ClinVar Annotator: match by term: Thrombocytopenia, congenital amegakaryocytic	PMID:10971406|PMID:11071383|PMID:11133753|PMID:11972523|PMID:14764528|PMID:15531462|PMID:16199547|PMID:16219544|PMID:16470591|PMID:17054430|PMID:17576681|PMID:17666371|PMID:18090929|PMID:18422784|PMID:19036112|PMID:19302922|PMID:19388932|PMID:19483125|PMID:19608689|PMID:19713221|PMID:20188141|PMID:21162090|PMID:21489838|PMID:21659346|PMID:22180433|PMID:23625800|PMID:24033266|PMID:24119002|PMID:24438083|PMID:24728327|PMID:25538044|PMID:25539746|PMID:25741868|PMID:26316487|PMID:26423830|PMID:26450985|PMID:27069254|PMID:27100302|PMID:27418648|PMID:28034873|PMID:28104920|PMID:28492532|PMID:28697167|PMID:28859041|PMID:28955303|PMID:29384262|PMID:29625052|PMID:30523342|PMID:30840646|PMID:30886832|PMID:31064749|PMID:31249973|PMID:32581362|PMID:32581363|PMID:32703794|PMID:32935436|PMID:33258288|PMID:35150448|PMID:35314707|PMID:35477182|PMID:35776903|PMID:35791502|PMID:35861108|PMID:36031433|PMID:36379227|PMID:36451132|PMID:37216690|PMID:37291213|PMID:37438490|PMID:37647632|PMID:38017244|PMID:8073287|PMID:9536098|PMID:971406
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:0090118	congenital amegakaryocytic thrombocytopenia		ISS	RGD:1322331	D	RGD:13592920	20230718	MouseDO		OMIM:604498	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:1247	blood coagulation disease		ISO	RGD:1322330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bleeding and platelet disorders	PMID:10971406|PMID:11071383|PMID:18422784|PMID:25741868|PMID:28492532|PMID:35776903
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:1588	thrombocytopenia		IEP		D	RGD:10448997|PMID:15670044	20151210	RGD		protein:decreased expression:blood, platelet (rat)	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:1588	thrombocytopenia		ISO	RGD:1322330	D	RGD:10449011|PMID:12209520	20151211	RGD		associated with Lupus Erythematosus, Systemic	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:1588	thrombocytopenia		ISO	RGD:1322330	D	RGD:1600454|PMID:10077649	20070309	RGD		congenital amegakaryocytic thrombocytopenia, OMIM:604498, DNA:point mutation:Q186X, frameshift:1499delT	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:1588	thrombocytopenia		ISO	RGD:1322330	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:26423830|PMID:28492532|PMID:28955303|PMID:32935436|PMID:37291213
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:1588	thrombocytopenia		ISO	RGD:1322331	D	RGD:10449017|PMID:8630375	20151211	RGD			
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:1588	thrombocytopenia	ameliorates	ISO	RGD:1322330	D	RGD:126925754|PMID:32841939	20210518	RGD		associated with End Stage Liver Disease	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:1883	hepatitis C		ISO	RGD:1322330	D	RGD:126925755|PMID:23157389	20210519	RGD		mRNA:decreased expression:liver (human)	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:2043	hepatitis B		ISO	RGD:1322330	D	RGD:126925755|PMID:23157389	20210519	RGD		mRNA:decreased expression:liver (human)	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1322330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:11972523|PMID:16470591|PMID:21659346|PMID:25741868|PMID:26423830|PMID:28492532|PMID:28859041|PMID:28955303|PMID:32703794|PMID:32935436|PMID:37291213
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:2224	essential thrombocythemia		ISO	RGD:1322330	D	RGD:10449014|PMID:14764528	20151211	RGD		DNA:missense mutation:cds:pS505N (human)	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:2224	essential thrombocythemia		ISO	RGD:1322330	D	RGD:10449016|PMID:11122159	20151211	RGD		mRNA, protein:decreased expression:blood, platelet (human)	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:2224	essential thrombocythemia		ISO	RGD:1322330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Essential thrombocythemia	PMID:11133753|PMID:14764528|PMID:16199547|PMID:16470591|PMID:19036112|PMID:21659346|PMID:24119002|PMID:24728327|PMID:25538044|PMID:25741868|PMID:26423830|PMID:27069254|PMID:28034873|PMID:28492532|PMID:28859041|PMID:28955303|PMID:32703794|PMID:32935436|PMID:35791502|PMID:37216690|PMID:37291213|PMID:8073287|PMID:971406
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:2228	thrombocytosis		ISO	RGD:1322330	D	RGD:11073684|PMID:19036112	20160503	RGD		DNA:mutation:cds:c.317C > T,p.P106L(human)	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:2228	thrombocytosis		ISO	RGD:1322330	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15813844|PMID:16484586
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:4961	bone marrow disease		ISO	RGD:1322330	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:14764528|PMID:16470591|PMID:19036112|PMID:21659346|PMID:24119002|PMID:25538044|PMID:25741868|PMID:28034873|PMID:28492532|PMID:28859041|PMID:32703794|PMID:35791502|PMID:971406
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:4971	myelofibrosis		IMP		D	RGD:10449004|PMID:19671919	20151211	RGD			
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:4971	myelofibrosis		ISO	RGD:1322330	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:4971	myelofibrosis		ISO	RGD:1322330	D	RGD:7240710	20130221	OMIM			
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:4971	myelofibrosis		ISO	RGD:1322330	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis	PMID:14764528|PMID:16470591|PMID:19036112|PMID:21659346|PMID:24119002|PMID:25538044|PMID:25741868|PMID:28034873|PMID:28492532|PMID:28859041|PMID:32703794|PMID:35791502|PMID:971406
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:630	genetic disease		ISO	RGD:1322330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322331	D	RGD:126925755|PMID:23157389	20210519	RGD		human cells in mouse model	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:8692	myeloid leukemia		ISO	RGD:1322330	D	RGD:10449009|PMID:10621836	20151211	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:9006561	Familial Myelofibrosis		ISO	RGD:1322330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC	PMID:18769448|PMID:20113333|PMID:21326037|PMID:25023898|PMID:25741868|PMID:28492532|PMID:28823277|PMID:31294534
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:9006618	Liver Metastasis		ISO	RGD:1322331	D	RGD:126925751|PMID:30770989	20210518	RGD		associated with pancreatic ductal adenocarcinoma; human cells in mouse model	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:9006618	Liver Metastasis	exacerbates	ISO	RGD:1322330	D	RGD:126925751|PMID:30770989	20210518	RGD		associated with pancreatic cancer; protein:increased expression:liver, pancreas (human)	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:9006618	Liver Metastasis	severity	ISO	RGD:1322330	D	RGD:126925752|PMID:23747337	20210817	RGD		associated with colorectal carcinoma;protein:increased expression:colorectum (human)	
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:9007222	Bone Marrow Failure Disorders		ISO	RGD:1322330	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bone marrow failure syndrome	PMID:14764528|PMID:16470591|PMID:19036112|PMID:21659346|PMID:24119002|PMID:25538044|PMID:25741868|PMID:28034873|PMID:28492532|PMID:28859041|PMID:32703794|PMID:35791502|PMID:971406
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:9007879	Thrombocythemia 2		ISO	RGD:1322330	D	RGD:7240710	20140903	OMIM			
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:9007879	Thrombocythemia 2		ISO	RGD:1322330	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thrombocythemia 2	PMID:14764528|PMID:16470591|PMID:19036112|PMID:21659346|PMID:24119002|PMID:25538044|PMID:25741868|PMID:28034873|PMID:28492532|PMID:28859041|PMID:32703794|PMID:34573280|PMID:35791502|PMID:971406
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1322330	D	RGD:9068941	20210820	RGD		protein:decreased expression:blood serum (human)	PMID:28871230|REF_RGD_ID:150340590
1311069	Mpl	MPL proto-oncogene, thrombopoietin receptor	gene	DOID:9008217	Hemorrhage		ISO	RGD:1322330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: bleeding	PMID:25741868|PMID:28492532
1311070	Me3	malic enzyme 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322332	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311070	Me3	malic enzyme 3	gene	DOID:1115	sarcoma		ISO	RGD:1322332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311070	Me3	malic enzyme 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311070	Me3	malic enzyme 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311070	Me3	malic enzyme 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311071	Recql	RecQ like helicase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311071	Recql	RecQ like helicase	gene	DOID:10534	stomach cancer		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1311071	Recql	RecQ like helicase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311071	Recql	RecQ like helicase	gene	DOID:1115	sarcoma		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311071	Recql	RecQ like helicase	gene	DOID:11830	myopia		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1311071	Recql	RecQ like helicase	gene	DOID:1324	lung cancer		ISO	RGD:1322333	D	RGD:2317370|PMID:18422747	20100331	RGD			
1311071	Recql	RecQ like helicase	gene	DOID:1596	depressive disorder		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1311071	Recql	RecQ like helicase	gene	DOID:162	cancer		ISO	RGD:1322333	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cancer	
1311071	Recql	RecQ like helicase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322333	D	RGD:2317365|PMID:16540687	20100331	RGD		DNA:SNP:3'utr:rs13035 (human)	
1311071	Recql	RecQ like helicase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322333	D	RGD:2317369|PMID:19768149	20100331	RGD		DNA:SNPs:introns	
1311071	Recql	RecQ like helicase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322333	D	RGD:2317370|PMID:18422747	20100331	RGD			
1311071	Recql	RecQ like helicase	gene	DOID:1909	melanoma		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311071	Recql	RecQ like helicase	gene	DOID:2030	anxiety disorder		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:26467025|PMID:28492532|PMID:33471991|PMID:35264596|PMID:35534704
1311071	Recql	RecQ like helicase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311071	Recql	RecQ like helicase	gene	DOID:2394	ovarian cancer		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: familial ovarian cancer	PMID:16199547|PMID:25741868|PMID:28492532|PMID:3022465|PMID:30224651|PMID:36451132|PMID:36744932
1311071	Recql	RecQ like helicase	gene	DOID:4362	cervical cancer		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311071	Recql	RecQ like helicase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311071	Recql	RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1322333	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:32546565|PMID:32566746|PMID:33471991|PMID:33563768|PMID:33649982
1311071	Recql	RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1322333	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:32165824|PMID:32546565|PMID:32566746|PMID:33471991|PMID:33563768|PMID:33649982
1311071	Recql	RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1322333	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:32443704|PMID:32546565|PMID:32566746|PMID:33471991|PMID:33563768|PMID:33649982
1311071	Recql	RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1322333	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:31173646|PMID:32443704|PMID:32546565|PMID:32566746|PMID:33471991|PMID:33563768|PMID:33649982
1311071	Recql	RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:31173646|PMID:32566746|PMID:33471991|PMID:33563768|PMID:33649982
1311071	Recql	RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1322333	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:31173646|PMID:33471991|PMID:33563768|PMID:33649982
1311071	Recql	RecQ like helicase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311071	Recql	RecQ like helicase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311071	Recql	RecQ like helicase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322333	D	RGD:9068941	20220825	RGD			PMID:18422747|REF_RGD_ID:2317370
1311071	Recql	RecQ like helicase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1322333	D	RGD:2317370|PMID:18422747	20100331	RGD		protein:increased expression:liver	
1311071	Recql	RecQ like helicase	gene	DOID:687	hepatoblastoma		ISO	RGD:1322333	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	
1311071	Recql	RecQ like helicase	gene	DOID:9001941	RECON PROGEROID SYNDROME		ISO	RGD:1322333	D	RGD:7240710	20230726	OMIM			
1311071	Recql	RecQ like helicase	gene	DOID:9001941	RECON PROGEROID SYNDROME		ISO	RGD:1322333	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RECON PROGEROID SYNDROME | ClinVar Annotator: match by term: RECON progeroid syndrome | ClinVar Annotator: match by term: RECQL-related condition	PMID:17576681|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26455304|PMID:26467025|PMID:27125668|PMID:28492532|PMID:28724667|PMID:29625052|PMID:31173646|PMID:31604778|PMID:31911633|PMID:32183364|PMID:32427313|PMID:32546565|PMID:33471991|PMID:33563768|PMID:33649982|PMID:34754157|PMID:35264596|PMID:35534704|PMID:36451132|PMID:37031196|PMID:9536098
1311071	Recql	RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322333	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:19768149|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:29341116|PMID:29351780|PMID:30224651|PMID:30613976|PMID:32566746|PMID:9536098
1311071	Recql	RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322333	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19768149|PMID:23852950|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:27832498|PMID:28492532|PMID:28591191|PMID:28724667|PMID:29341116|PMID:29351780|PMID:29555771|PMID:29625052|PMID:30224651|PMID:30267214|PMID:30610487|PMID:30613976|PMID:31173646|PMID:31312277|PMID:31444271|PMID:31469826|PMID:31604778|PMID:31659152|PMID:32029870|PMID:32338768|PMID:32471518|PMID:32517021|PMID:32546565|PMID:32566746|PMID:33342430|PMID:33471991|PMID:33563768|PMID:33649982|PMID:9536098
1311071	Recql	RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322333	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:15096578|PMID:16199547|PMID:17576681|PMID:19768149|PMID:23852950|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26455304|PMID:26467025|PMID:27125668|PMID:27832498|PMID:28492532|PMID:28591191|PMID:28724667|PMID:29341116|PMID:29351780|PMID:29555771|PMID:29625052|PMID:30224651|PMID:30267214|PMID:30610487|PMID:30613976|PMID:31173646|PMID:31312277|PMID:31444271|PMID:31469826|PMID:31604778|PMID:31659152|PMID:32029870|PMID:32338768|PMID:32427313|PMID:32471518|PMID:32517021|PMID:32546565|PMID:32566746|PMID:32957588|PMID:33342430|PMID:33471991|PMID:33563768|PMID:33649982|PMID:35264596|PMID:36451132|PMID:9536098
1311071	Recql	RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322333	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15096578|PMID:16199547|PMID:17576681|PMID:19768149|PMID:23852950|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26455304|PMID:26467025|PMID:27125668|PMID:27832498|PMID:28492532|PMID:28591191|PMID:28724667|PMID:29341116|PMID:29351780|PMID:29555771|PMID:29625052|PMID:30224651|PMID:30267214|PMID:30610487|PMID:30613976|PMID:31173646|PMID:31312277|PMID:31444271|PMID:31469826|PMID:31604778|PMID:31659152|PMID:32029870|PMID:32338768|PMID:32427313|PMID:32471518|PMID:32517021|PMID:32546565|PMID:32566746|PMID:32957588|PMID:33342430|PMID:33471991|PMID:33563768|PMID:33649982|PMID:33858029|PMID:35264596|PMID:36451132|PMID:9536098
1311071	Recql	RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322333	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:19768149|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26455304|PMID:26467025|PMID:27125668|PMID:28492532|PMID:28724667|PMID:29341116|PMID:29351780|PMID:30224651|PMID:30613976|PMID:32029870|PMID:32517021|PMID:32546565|PMID:32566746|PMID:33471991|PMID:35264596|PMID:9536098
1311071	Recql	RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322333	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:19768149|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26455304|PMID:26467025|PMID:27125668|PMID:28492532|PMID:28724667|PMID:29341116|PMID:29351780|PMID:30224651|PMID:30613976|PMID:32029870|PMID:32165824|PMID:32517021|PMID:32546565|PMID:32566746|PMID:33471991|PMID:35264596|PMID:9536098
1311071	Recql	RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26455304|PMID:26467025|PMID:27125668|PMID:28492532|PMID:28724667|PMID:29351780|PMID:30224651|PMID:31911633|PMID:32029870|PMID:32517021|PMID:32546565|PMID:33471991|PMID:35264596|PMID:35534704|PMID:36113475|PMID:9536098
1311071	Recql	RecQ like helicase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322333	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25915596
1311071	Recql	RecQ like helicase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322333	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1311071	Recql	RecQ like helicase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311072	Rtf2	replication termination factor 2	gene	DOID:1909	melanoma		ISO	RGD:1322335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311072	Rtf2	replication termination factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311072	Rtf2	replication termination factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311072	Rtf2	replication termination factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311073	Poldip3	DNA polymerase delta interacting protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311073	Poldip3	DNA polymerase delta interacting protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311073	Poldip3	DNA polymerase delta interacting protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311073	Poldip3	DNA polymerase delta interacting protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311073	Poldip3	DNA polymerase delta interacting protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311073	Poldip3	DNA polymerase delta interacting protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311073	Poldip3	DNA polymerase delta interacting protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311073	Poldip3	DNA polymerase delta interacting protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311073	Poldip3	DNA polymerase delta interacting protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311075	Psd2	pleckstrin and Sec7 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311075	Psd2	pleckstrin and Sec7 domain containing 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1322340	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
1311075	Psd2	pleckstrin and Sec7 domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311075	Psd2	pleckstrin and Sec7 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311075	Psd2	pleckstrin and Sec7 domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311075	Psd2	pleckstrin and Sec7 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311076	Klhl29	kelch-like family member 29	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311077	Fam76b	family with sequence similarity 76, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311077	Fam76b	family with sequence similarity 76, member B	gene	DOID:10534	stomach cancer		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311077	Fam76b	family with sequence similarity 76, member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311077	Fam76b	family with sequence similarity 76, member B	gene	DOID:1324	lung cancer		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311077	Fam76b	family with sequence similarity 76, member B	gene	DOID:3070	high grade glioma		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311077	Fam76b	family with sequence similarity 76, member B	gene	DOID:3275	thymoma		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311077	Fam76b	family with sequence similarity 76, member B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311077	Fam76b	family with sequence similarity 76, member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311077	Fam76b	family with sequence similarity 76, member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311077	Fam76b	family with sequence similarity 76, member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311077	Fam76b	family with sequence similarity 76, member B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311078	Ten1	TEN1 subunit of CST complex	gene	DOID:2729	dyskeratosis congenita		ISS	RGD:1322344	D	RGD:13592920	20250605	MouseDO			
1311079	Lgi3	leucine-rich repeat LGI family, member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311079	Lgi3	leucine-rich repeat LGI family, member 3	gene	DOID:1324	lung cancer		ISO	RGD:1322345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311079	Lgi3	leucine-rich repeat LGI family, member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1322345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311079	Lgi3	leucine-rich repeat LGI family, member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322345	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311079	Lgi3	leucine-rich repeat LGI family, member 3	gene	DOID:9008164	INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS		ISO	RGD:1322345	D	RGD:7240710	20221214	OMIM			
1311079	Lgi3	leucine-rich repeat LGI family, member 3	gene	DOID:9008164	INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS		ISO	RGD:1322345	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS | ClinVar Annotator: match by term: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | ClinVar Annotator: match by term: LGI3-related condition | ClinVar Annotator: match by term: Peripheral nerve hyperexcitability syndrome	PMID:25741868|PMID:28492532
1311080	Ndnf	neuron-derived neurotrophic factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311080	Ndnf	neuron-derived neurotrophic factor	gene	DOID:1924	hypogonadism		ISO	RGD:1606239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:25741868
1311080	Ndnf	neuron-derived neurotrophic factor	gene	DOID:289	endometriosis		ISO	RGD:1606239	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1311080	Ndnf	neuron-derived neurotrophic factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311080	Ndnf	neuron-derived neurotrophic factor	gene	DOID:9001845	Hypogonadotropic Hypogonadism 25 with Anosmia		ISO	RGD:1606239	D	RGD:7240710	20200408	OMIM			
1311080	Ndnf	neuron-derived neurotrophic factor	gene	DOID:9001845	Hypogonadotropic Hypogonadism 25 with Anosmia		ISO	RGD:1606239	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 25 with anosmia	PMID:25741868|PMID:31883645
1311080	Ndnf	neuron-derived neurotrophic factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311081	Ndufs5	NADH:ubiquinone oxidoreductase subunit S5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311081	Ndufs5	NADH:ubiquinone oxidoreductase subunit S5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311081	Ndufs5	NADH:ubiquinone oxidoreductase subunit S5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1322350	D	RGD:14700648|PMID:26984774	20190808	RGD			
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:0111627	DOORS syndrome		ISO	RGD:1322350	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: DOORS syndrome	PMID:25741868
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:10534	stomach cancer		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:1115	sarcoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:1324	lung cancer		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:1909	melanoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:2394	ovarian cancer		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:3275	thymoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:4362	cervical cancer		ISO	RGD:1322350	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:5517	stomach carcinoma		ISO	RGD:1322350	D	RGD:14700649|PMID:23722107	20190808	RGD			
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:6039	uveal melanoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1322351	D	RGD:14700647|PMID:24155661	20190808	RGD		associated with Mammary Neoplasms, Experimental	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311082	Atp6v1c1	ATPase H+ transporting V1 subunit C1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:0060277	pontocerebellar hypoplasia type 8		ISO	RGD:1346526	D	RGD:7240710	20140911	OMIM			
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:0060277	pontocerebellar hypoplasia type 8		ISO	RGD:1346526	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CHMP1A-related condition | ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 8	PMID:18414213|PMID:23023333|PMID:25741868|PMID:28492532|PMID:30315573|PMID:33528536
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1346526	D	RGD:8554872	20191210	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:10908	hydrocephalus		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:11836	clubfoot		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:1324	lung cancer		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker syndrome	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:540	strabismus		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:630	genetic disease		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:8488	polyhydramnios		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
1311083	Chmp1a	charged multivesicular body protein 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:0110484	autosomal recessive nonsyndromic deafness 26		ISO	RGD:1322354	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:0110484	autosomal recessive nonsyndromic deafness 26		ISO	RGD:1322354	D	RGD:7240710	20190315	OMIM			
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1322354	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:4977	lymphedema		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:540	strabismus		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:9000197	Edema		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322355	D	RGD:14995329|PMID:25617348	20191021	RGD		protein:increased tyrosine phosphorylation: :	
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:9008114	Helicobacter Infections	susceptibility	ISO	RGD:1322354	D	RGD:39128202|PMID:17211494	20200925	RGD		DNA:SNP:intron:	
1311085	Gab1	GRB2-associated binding protein 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	
1311086	Gpatch4	G patch domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1606544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311086	Gpatch4	G patch domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1606544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311086	Gpatch4	G patch domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1606544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311086	Gpatch4	G patch domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311086	Gpatch4	G patch domain containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311086	Gpatch4	G patch domain containing 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606544	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311086	Gpatch4	G patch domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311090	Stoml3	stomatin like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311090	Stoml3	stomatin like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311090	Stoml3	stomatin like 3	gene	DOID:1909	melanoma		ISO	RGD:1322361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311090	Stoml3	stomatin like 3	gene	DOID:3275	thymoma		ISO	RGD:1322361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311090	Stoml3	stomatin like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311090	Stoml3	stomatin like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311090	Stoml3	stomatin like 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311092	Oxsm	3-oxoacyl-ACP synthase, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1603026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311092	Oxsm	3-oxoacyl-ACP synthase, mitochondrial	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1603026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:0050117	disease by infectious agent		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:0110935	nemaline myopathy 6		ISO	RGD:3130125	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:0110935	nemaline myopathy 6		ISO	RGD:3130125	D	RGD:7240710	20151209	OMIM			
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:0110935	nemaline myopathy 6		ISO	RGD:3130125	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEMALINE MYOPATHY 6 | ClinVar Annotator: match by term: Nemaline myopathy 6 | ClinVar Annotator: match by term: Nemaline myopathy 6, autosomal dominant	PMID:11731279|PMID:18414213|PMID:21109227|PMID:25741868|PMID:26467025|PMID:27074222|PMID:28492532|PMID:29382405|PMID:29970176|PMID:30208948|PMID:31167812|PMID:31475037|PMID:31671076|PMID:31828823
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:0110935	nemaline myopathy 6		ISS	RGD:1322366	D	RGD:13592920	20230718	MouseDO		OMIM:609273	
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:1287	cardiovascular system disease		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:2030	anxiety disorder		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	PMID:25741868|PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:2841	asthma		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:3312	bipolar disorder		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:480	movement disease		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:630	genetic disease		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Disorder | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:870	neuropathy		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: neuropathy	PMID:25741868
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:9000495	Tremor		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:9002563	Gait Ataxia		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:9003242	Paresthesia		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paresthesia	PMID:25741868|PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:9004866	Ataxia		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:9005532	Muscle Weakness		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:9007077	Actin-Accumulation Myopathy		ISO	RGD:3130125	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Actin accumulation myopathy	PMID:25741868
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:9008023	Memory Disorders		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:9256	colorectal cancer		ISO	RGD:3130125	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	PMID:25741868
1311093	Kbtbd13	kelch repeat and BTB domain containing 13	gene	DOID:9834	hyperopia		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1311095	Qrich1	glutamine-rich 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311095	Qrich1	glutamine-rich 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606541	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1311095	Qrich1	glutamine-rich 1	gene	DOID:0060260	ptosis		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:1059	intellectual disability		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311095	Qrich1	glutamine-rich 1	gene	DOID:12849	autistic disorder		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:27694994|PMID:28492532
1311095	Qrich1	glutamine-rich 1	gene	DOID:1324	lung cancer		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311095	Qrich1	glutamine-rich 1	gene	DOID:1826	epilepsy		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25741868
1311095	Qrich1	glutamine-rich 1	gene	DOID:3275	thymoma		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311095	Qrich1	glutamine-rich 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606541	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311095	Qrich1	glutamine-rich 1	gene	DOID:630	genetic disease		ISO	RGD:1606541	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27694994|PMID:28492532|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:6364	migraine		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:870	neuropathy		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	
1311095	Qrich1	glutamine-rich 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:27694994|PMID:28492532
1311095	Qrich1	glutamine-rich 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1311095	Qrich1	glutamine-rich 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
1311095	Qrich1	glutamine-rich 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:9006617	Fatigue		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311095	Qrich1	glutamine-rich 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:9009176	Ververi-Brady syndrome 1		ISO	RGD:1606541	D	RGD:7240710	20190315	OMIM			
1311095	Qrich1	glutamine-rich 1	gene	DOID:9009176	Ververi-Brady syndrome 1		ISO	RGD:1606541	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: QRICH1-related condition | ClinVar Annotator: match by term: VERVERI-BRADY SYNDROME 1 | ClinVar Annotator: match by term: Ververi-Brady syndrome | ClinVar Annotator: match by term: Ververi-Brady syndrome 1	PMID:25741868|PMID:27694994|PMID:28492532|PMID:28692176|PMID:29758562|PMID:30281152|PMID:34859529
1311095	Qrich1	glutamine-rich 1	gene	DOID:9220	central sleep apnea		ISO	RGD:1606541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central sleep apnea syndrome	PMID:25741868|PMID:34859529
1311096	Gpr157	G protein-coupled receptor 157	gene	DOID:2394	ovarian cancer		ISO	RGD:1322370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311096	Gpr157	G protein-coupled receptor 157	gene	DOID:5041	esophageal cancer		ISO	RGD:1322370	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311096	Gpr157	G protein-coupled receptor 157	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311096	Gpr157	G protein-coupled receptor 157	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:0060476	Perlman syndrome		ISO	RGD:1322372	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Predisposition to Wilms tumor	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1322372	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:10534	stomach cancer		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:1115	sarcoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:1612	breast cancer		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:1909	melanoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:3070	high grade glioma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:3275	thymoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ewing sarcoma	PMID:25741868
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Papillary thyroid cancer	PMID:25741868
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:4362	cervical cancer		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1322372	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:5183	hereditary Wilms' tumor		ISO	RGD:1322372	D	RGD:8554872	20240305	ClinVar		ClinVar Annotator: match by term: Predisposition to Wilms tumor, CTR9-related	PMID:25741868|PMID:28492532
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:630	genetic disease		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:35499524|PMID:35717577
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CTR9-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:17576681|PMID:25099282|PMID:25741868|PMID:28492532|PMID:29292210|PMID:35468861|PMID:35499524|PMID:35717577|PMID:39293508|PMID:9536098
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:9007661	Dwarfism		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature	PMID:25741868
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311097	Ctr9	CTR9 component of Paf1/RNA polymerase II complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1311098	Dnajc22	DnaJ heat shock protein family (Hsp40) member C22	gene	DOID:10534	stomach cancer		ISO	RGD:1602458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311098	Dnajc22	DnaJ heat shock protein family (Hsp40) member C22	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311098	Dnajc22	DnaJ heat shock protein family (Hsp40) member C22	gene	DOID:1115	sarcoma		ISO	RGD:1602458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311098	Dnajc22	DnaJ heat shock protein family (Hsp40) member C22	gene	DOID:1324	lung cancer		ISO	RGD:1602458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311098	Dnajc22	DnaJ heat shock protein family (Hsp40) member C22	gene	DOID:5041	esophageal cancer		ISO	RGD:1602458	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311098	Dnajc22	DnaJ heat shock protein family (Hsp40) member C22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311098	Dnajc22	DnaJ heat shock protein family (Hsp40) member C22	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1603695	D	RGD:11073359|PMID:17558409	20170720	RGD		associated with Joubert Syndrome 7;DNA:mutations:exons:	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1603695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert Syndrome | ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19763152|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22331178|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28378410|PMID:28492532|PMID:29620724|PMID:31328266|PMID:31738409|PMID:31964843|PMID:31980526|PMID:33255631|PMID:33323469|PMID:34308837|PMID:35858853|PMID:36061204|PMID:36468023|PMID:36580738|PMID:37230223|PMID:37635794|PMID:37993833|PMID:38013309|PMID:40393193|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:21068128|PMID:21866095|PMID:25741868|PMID:28492532|PMID:31964843|PMID:33255631|PMID:36468023|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0050778	Meckel syndrome		ISS	RGD:1322375	D	RGD:13592920	20180518	MouseDO			
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0060668	anencephaly		ISO	RGD:1603695	D	RGD:11073359|PMID:17558409	20170720	RGD		associated with Meckel Syndrome, Type 5;DNA:mutations:exons:	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1603695	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:20301500|PMID:21068128|PMID:21866095|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:28771248|PMID:31390572|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:17558409|PMID:18414213|PMID:19430481|PMID:20301500|PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1603695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome type 1	PMID:17558409|PMID:18414213|PMID:19430481|PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:17558409|PMID:18414213|PMID:19430481|PMID:25741868|PMID:28492532|PMID:31964843|PMID:33255631
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0070119	Meckel syndrome 5		ISO	RGD:1603695	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0070119	Meckel syndrome 5		ISO	RGD:1603695	D	RGD:7240710	20130221	OMIM			
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0070119	Meckel syndrome 5		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MECKEL SYNDROME, TYPE 5 | ClinVar Annotator: match by term: Meckel syndrome type 5 | ClinVar Annotator: match by term: Meckel syndrome, type 5	PMID:16199547|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:19430481|PMID:21068128|PMID:23351400|PMID:25741868|PMID:28492532|PMID:31328266|PMID:31964843|PMID:33255631|PMID:33323469|PMID:35233738|PMID:35858853|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0110414	retinitis pigmentosa 3	severity	ISO	RGD:1603695	D	RGD:11352374|PMID:22183348	20170720	RGD		DNA:polymorphism:cds:p.R744Q (rs2302677)(human)	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1603695	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21866095|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28492532|PMID:29343940|PMID:29620724|PMID:29991045|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1603695	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22331178|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28378410|PMID:28492532|PMID:28771248|PMID:29343940|PMID:29620724|PMID:31390572|PMID:31980526|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1603695	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22331178|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28378410|PMID:28492532|PMID:28771248|PMID:29343940|PMID:29620724|PMID:31390572|PMID:31964843|PMID:31980526|PMID:35858853|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1603695	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22331178|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28378410|PMID:28492532|PMID:28771248|PMID:29343940|PMID:29620724|PMID:31328266|PMID:31390572|PMID:31964843|PMID:31980526|PMID:33323469|PMID:34308837|PMID:35233738|PMID:35858853|PMID:36061204|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1603695	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22331178|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28378410|PMID:28492532|PMID:28771248|PMID:29343940|PMID:29620724|PMID:31328266|PMID:31390572|PMID:31964843|PMID:31980526|PMID:32483926|PMID:33323469|PMID:34308837|PMID:3442652|PMID:35233738|PMID:35858853|PMID:36061204|PMID:36468023|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1603695	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:20301500|PMID:21068128|PMID:21866095|PMID:22331178|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:28771248|PMID:31390572|PMID:31980526|PMID:32483926|PMID:36468023|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1603695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:19430481|PMID:21068128|PMID:25741868|PMID:28492532|PMID:36468023|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1603695	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:19430481|PMID:21068128|PMID:25741868|PMID:28492532|PMID:31964843|PMID:33255631|PMID:36468023|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0111002	Joubert syndrome 7		ISO	RGD:1603695	D	RGD:11537350|PMID:17960139	20160930	RGD		DNA:missense mutations, splice-site mutation:exon, intron:multiple	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0111002	Joubert syndrome 7		ISO	RGD:1603695	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0111002	Joubert syndrome 7		ISO	RGD:1603695	D	RGD:7240710	20130221	OMIM			
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0111002	Joubert syndrome 7		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 7 | ClinVar Annotator: match by term: Joubert syndrome 7	PMID:16199547|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:19165332|PMID:19430481|PMID:25741868|PMID:26092869|PMID:27717089|PMID:28492532|PMID:31964843|PMID:33255631|PMID:35858853|PMID:37230223|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0111002	Joubert syndrome 7		ISS	RGD:1322375	D	RGD:13592920	20230718	MouseDO		OMIM:611560	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1603695	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:19430481|PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1603695	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:19430481|PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:10534	stomach cancer		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17576681|PMID:18414213|PMID:19430481|PMID:25741868|PMID:28492532|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:1059	intellectual disability		ISO	RGD:1603695	D	RGD:11073359|PMID:17558409	20170720	RGD		associated with Joubert Syndrome 7;DNA:mutations:exons:	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:17576681|PMID:28492532|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:1115	sarcoma		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:11830	myopia		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:12712	nephronophthisis		ISO	RGD:1603695	D	RGD:11073359|PMID:17558409	20170720	RGD		associated with Joubert Syndrome 7;DNA:mutations:exons:	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:12712	nephronophthisis		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:18414213|PMID:19430481|PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1603695	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:19430481|PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:1324	lung cancer		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:18414213|PMID:19430481|PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1603695	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:1596	depressive disorder		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:1909	melanoma		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:18414213|PMID:19430481|PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1603695	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:2030	anxiety disorder		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:2786	cerebellar disease		ISO	RGD:1603695	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17558407|PMID:17558409
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:2975	cystic kidney disease		ISO	RGD:1603695	D	RGD:11073359|PMID:17558409	20170720	RGD		associated with Meckel Syndrome, Type 5;DNA:mutations:exons:	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:3275	thymoma		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:18414213|PMID:19430481|PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:3312	bipolar disorder		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:4362	cervical cancer		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:18414213|PMID:19430481|PMID:25741868|PMID:28492532|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:18414213|PMID:19430481|PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:557	kidney disease		ISO	RGD:1603695	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17558407|PMID:17558409
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:557	kidney disease		ISO	RGD:1603695	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:18414213|PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:5614	eye disease		ISO	RGD:1603695	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17558407|PMID:17558409
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:5723	optic atrophy		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:33574475
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:18414213|PMID:19430481|PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:630	genetic disease		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36468023
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:8466	retinal degeneration		ISO	RGD:1603695	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430481
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:8501	fundus dystrophy		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:8725	vascular dementia	susceptibility	ISO	RGD:1603695	D	RGD:13204815|PMID:22425971	20170720	RGD		DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human)	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9000639	COACH Syndrome 1		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COACH syndrome 1	PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9000983	Encephalocele		ISO	RGD:1603695	D	RGD:11073359|PMID:17558409	20170720	RGD		associated with Meckel Syndrome, Type 5;DNA:mutations:exons:	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1603695	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17558407|PMID:17558409
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9003488	Postaxial Polydactyly, Type A1		ISO	RGD:1603695	D	RGD:11073359|PMID:17558409	20170720	RGD		associated with Meckel Syndrome, Type 5;DNA:mutations:exons:	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:18414213|PMID:19430481|PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:18414213|PMID:19430481|PMID:25741868|PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9007694	COACH Syndrome 3		ISO	RGD:1603695	D	RGD:7240710	20201223	OMIM			
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9007694	COACH Syndrome 3		ISO	RGD:1603695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COACH syndrome 3	PMID:16199547|PMID:17558409|PMID:17576681|PMID:17960139|PMID:19430481|PMID:25741868|PMID:26092869|PMID:28492532|PMID:31964843|PMID:33255631|PMID:9536098
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9008023	Memory Disorders		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9008421	Epistaxis		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311099	Rpgrip1l	Rpgrip1-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311100	Slc51a	solute carrier family 51 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311100	Slc51a	solute carrier family 51 member A	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1604974	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16423920
1311100	Slc51a	solute carrier family 51 member A	gene	DOID:13580	cholestasis		ISO	RGD:1604974	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16423920|PMID:22461449
1311100	Slc51a	solute carrier family 51 member A	gene	DOID:1561	cognitive disorder		ISO	RGD:1604974	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29382564
1311100	Slc51a	solute carrier family 51 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311100	Slc51a	solute carrier family 51 member A	gene	DOID:9002471	Progressive Familial Intrahepatic Cholestasis 6		ISO	RGD:1604974	D	RGD:7240710	20210825	OMIM			
1311100	Slc51a	solute carrier family 51 member A	gene	DOID:9002471	Progressive Familial Intrahepatic Cholestasis 6		ISO	RGD:1604974	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 | ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 | ClinVar Annotator: match by term: SLC51A-related disorder	PMID:25741868|PMID:31863603|PMID:32247663
1311100	Slc51a	solute carrier family 51 member A	gene	DOID:9002661	Diabetes Complications		ISO	RGD:1604974	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29382564
1311100	Slc51a	solute carrier family 51 member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1311100	Slc51a	solute carrier family 51 member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311101	Cda	cytidine deaminase	gene	DOID:10534	stomach cancer		ISO	RGD:1322377	D	RGD:152995290|PMID:8076377	20220614	RGD		protein:increased expression:stomach:	
1311101	Cda	cytidine deaminase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1322377	D	RGD:2316365|PMID:18347182	20100210	RGD		DNA:snp:cds:p.K27Q (human)	
1311101	Cda	cytidine deaminase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311101	Cda	cytidine deaminase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1322377	D	RGD:152995291|PMID:28347776	20220614	RGD		DNA:SNP:cds:rs1048977|rs12726436|rs2072671 (human)	
1311101	Cda	cytidine deaminase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311101	Cda	cytidine deaminase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322377	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10811482|PMID:25330770
1311101	Cda	cytidine deaminase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311102	Tspan12	tetraspanin 12	gene	DOID:0050535	exudative vitreoretinopathy		ISO	RGD:1322379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial exudative vitreoretinopathy	PMID:25250762|PMID:25741868
1311102	Tspan12	tetraspanin 12	gene	DOID:0050535	exudative vitreoretinopathy		ISS	RGD:1551712	D	RGD:13592920	20180518	MouseDO		OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310	
1311102	Tspan12	tetraspanin 12	gene	DOID:0060844	Norrie disease		ISO	RGD:1322379	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Atrophia bulborum hereditaria	PMID:25250762|PMID:25741868
1311102	Tspan12	tetraspanin 12	gene	DOID:0111408	exudative vitreoretinopathy 5		ISO	RGD:1322379	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311102	Tspan12	tetraspanin 12	gene	DOID:0111408	exudative vitreoretinopathy 5		ISO	RGD:1322379	D	RGD:7240710	20130221	OMIM			
1311102	Tspan12	tetraspanin 12	gene	DOID:0111408	exudative vitreoretinopathy 5		ISO	RGD:1322379	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 5 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 5 | ClinVar Annotator: match by term: TSPAN12-related condition	PMID:20159111|PMID:20159112|PMID:21334594|PMID:21552475|PMID:22427576|PMID:25250762|PMID:25352738|PMID:25741868|PMID:28002565|PMID:28492532|PMID:28494495|PMID:31106028|PMID:31987760|PMID:33907885|PMID:34738848|PMID:34828430|PMID:36729443
1311102	Tspan12	tetraspanin 12	gene	DOID:5679	retinal disease		ISO	RGD:1322379	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:26244290|PMID:28492532|PMID:30452590|PMID:33090715|PMID:33907885|PMID:35876299
1311102	Tspan12	tetraspanin 12	gene	DOID:5723	optic atrophy		ISO	RGD:1322379	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1311102	Tspan12	tetraspanin 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311102	Tspan12	tetraspanin 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322379	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311102	Tspan12	tetraspanin 12	gene	DOID:630	genetic disease		ISO	RGD:1322379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311102	Tspan12	tetraspanin 12	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322379	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:20159112|PMID:21334594|PMID:25741868|PMID:27316669|PMID:28492532|PMID:9536098
1311102	Tspan12	tetraspanin 12	gene	DOID:9002174	Disease Susceptibility		ISO	RGD:1322379	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20130021
1311102	Tspan12	tetraspanin 12	gene	DOID:9005204	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive		ISO	RGD:1322379	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive	PMID:25250762|PMID:25741868
1311102	Tspan12	tetraspanin 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311103	Ooep	oocyte expressed protein	gene	DOID:1115	sarcoma		ISO	RGD:1351084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311103	Ooep	oocyte expressed protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311104	Nceh1	neutral cholesterol ester hydrolase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311104	Nceh1	neutral cholesterol ester hydrolase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311104	Nceh1	neutral cholesterol ester hydrolase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1606253	D	RGD:11554173	20210707	CTD		CTD Direct Evidence: marker/mechanism	PMID:32171938
1311104	Nceh1	neutral cholesterol ester hydrolase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311104	Nceh1	neutral cholesterol ester hydrolase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606253	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311104	Nceh1	neutral cholesterol ester hydrolase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1322383	D	RGD:150340710|PMID:31918270	20210830	RGD			
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322383	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1322383	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 1	PMID:25741868
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:0070445	early-onset dystonia and/or spastic paraplegia		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1322383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adenoid cystic carcinoma	PMID:25741868
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:0080297	Coffin-Siris syndrome 6		ISO	RGD:1322383	D	RGD:7240710	20190315	OMIM			
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:0080297	Coffin-Siris syndrome 6		ISO	RGD:1322383	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARID2-related BAFopathy | ClinVar Annotator: match by term: ARID2-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 6 | ClinVar Annotator: match by term: Coffin-Siris syndrome 6	PMID:25741868|PMID:26238514|PMID:27993330|PMID:28124119|PMID:28492532|PMID:28726821|PMID:28884947|PMID:30196423|PMID:30838730|PMID:31819232|PMID:33172502|PMID:35489737
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:27993330|PMID:28726821|PMID:31819232|PMID:33172502|PMID:35489737|PMID:38243407
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:0080703	medulloblastoma SHH activated		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated	PMID:27993330|PMID:36713498
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:0111152	multicentric Castleman disease		ISO	RGD:1322383	D	RGD:8554872	20190924	ClinVar		ClinVar Annotator: match by term: TAFRO syndrome	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:10534	stomach cancer	onset	ISO	RGD:1322383	D	RGD:9068941	20210430	RGD		protein:decreased expression:stomach (human)	PMID:26637902|REF_RGD_ID:126848744
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:1059	intellectual disability		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:12642	hiatus hernia		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:1324	lung cancer		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:32071245|PMID:35101336
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:1909	melanoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1322383	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome	PMID:25741868
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:2841	asthma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:3275	thymoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:3873	desmoplastic/nodular medulloblastoma		ISO	RGD:1322383	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma	PMID:26580448
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:540	strabismus		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:630	genetic disease		ISO	RGD:1322383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27993330|PMID:28726821|PMID:31819232|PMID:33172502|PMID:35489737|PMID:36413997|PMID:38243407
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322383	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822264|PMID:22634756
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322383	D	RGD:150340712|PMID:28498550	20210830	RGD		associated with hepatitis B;protein:decreased expression:liver	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1322383	D	RGD:150340708|PMID:32071245	20210830	RGD			
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1322383	D	RGD:150429631|PMID:25701229	20210910	RGD			
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1322383	D	RGD:150340711|PMID:27351279	20210830	RGD			
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1322383	D	RGD:8554872	20210817	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9000495	Tremor		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1322383	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322383	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9004866	Ataxia		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1322383	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9009121	lung metastasis	exacerbates	ISO	RGD:1322383	D	RGD:150340708|PMID:32071245	20210830	RGD		associated with hepatocellular carcinoma,	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311105	Arid2	AT-rich interaction domain 2	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1322383	D	RGD:150429650|PMID:33262464	20210910	RGD			
1311106	Olfml3	olfactomedin-like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311106	Olfml3	olfactomedin-like 3	gene	DOID:10283	prostate cancer		ISO	RGD:1322385	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1311106	Olfml3	olfactomedin-like 3	gene	DOID:10283	prostate cancer		ISO	RGD:1322385	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1311106	Olfml3	olfactomedin-like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311106	Olfml3	olfactomedin-like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311106	Olfml3	olfactomedin-like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1322385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311106	Olfml3	olfactomedin-like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311106	Olfml3	olfactomedin-like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311106	Olfml3	olfactomedin-like 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322385	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311106	Olfml3	olfactomedin-like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:0110216	Leber congenital amaurosis 11		ISO	RGD:1322388	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:0110216	Leber congenital amaurosis 11		ISO	RGD:1322388	D	RGD:7240710	20141015	OMIM			
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:0110216	Leber congenital amaurosis 11		ISO	RGD:1322388	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 11 | ClinVar Annotator: match by term: Leber congenital amaurosis 11	PMID:15851576|PMID:16038673|PMID:17576681|PMID:25741868|PMID:28488341|PMID:28492532|PMID:28559085|PMID:33691693|PMID:9536098
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:0110388	retinitis pigmentosa 10		ISO	RGD:1322388	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:0110388	retinitis pigmentosa 10		ISO	RGD:1322388	D	RGD:7240710	20130425	OMIM			
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:0110388	retinitis pigmentosa 10		ISO	RGD:1322388	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: IMPDH1-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 10 | ClinVar Annotator: match by term: Retinitis pigmentosa 10	PMID:11875050|PMID:15851576|PMID:15882147|PMID:16038673|PMID:16384941|PMID:17576681|PMID:25741868|PMID:28488341|PMID:28492532|PMID:28559085|PMID:31213501|PMID:32037395|PMID:33691693|PMID:9536098
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11875050|PMID:16384941
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322388	D	RGD:1599608|PMID:11875050	20070208	RGD		DNA:missense mutation: :p.D226N, p.V268I (human)	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322388	D	RGD:5144134|PMID:18385099	20110801	RGD		human gene in mouse model	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322388	D	RGD:5144221|PMID:11875049	20140307	RGD		DNA:missense mutation:exon:p.R224P (human)	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322388	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:20045992|PMID:20718729|PMID:24244438|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30718709
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322388	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:20045992|PMID:20718729|PMID:24244438|PMID:25741868|PMID:28492532|PMID:30718709
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322388	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:20045992|PMID:20718729|PMID:24244438|PMID:25698705|PMID:25741868|PMID:28492532|PMID:30718709
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322388	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:14981049|PMID:16199547|PMID:20045992|PMID:20718729|PMID:24244438|PMID:25698705|PMID:25741868|PMID:28492532|PMID:30718709|PMID:32531858|PMID:33090715
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:14981049|PMID:16199547|PMID:25741868|PMID:28492532|PMID:30718709|PMID:32531858|PMID:33090715
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:1115	sarcoma		ISO	RGD:1322388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1322388	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16384941
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1322388	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:30718709
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:1909	melanoma		ISO	RGD:1322388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322388	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:5679	retinal disease		ISO	RGD:1322388	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:11875050|PMID:15882147|PMID:21791244|PMID:25741868|PMID:28492532|PMID:28945494|PMID:30902645
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:630	genetic disease		ISO	RGD:1322388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:8466	retinal degeneration		ISO	RGD:1551714	D	RGD:5144136|PMID:14981049	20110801	RGD			
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:8466	retinal degeneration		ISO	RGD:1551714	D	RGD:5144221|PMID:11875049	20110802	RGD		mRNA:decreased expression:retina (mouse)	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322388	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:14981049|PMID:15851576|PMID:17576681|PMID:20718729|PMID:24244438|PMID:25698705|PMID:25741868|PMID:28492532|PMID:30718709|PMID:31054281|PMID:31213501|PMID:317257|PMID:32037395|PMID:33090715|PMID:33576794|PMID:37734845|PMID:38604988|PMID:9536098
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311108	Impdh1	inosine monophosphate dehydrogenase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311112	Pck2	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	gene	DOID:0080600	COVID-19		ISO	RGD:1322394	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311112	Pck2	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	gene	DOID:9000520	Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial		ISO	RGD:1322394	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311112	Pck2	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	gene	DOID:9000520	Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial		ISO	RGD:1322394	D	RGD:7240710	20190306	OMIM			
1311112	Pck2	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322394	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311112	Pck2	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	gene	DOID:9002669	Hypoxia		ISO	RGD:1322394	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18258771
1311112	Pck2	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	gene	DOID:9005930	Endotoxemia		IEP		D	RGD:10427879|PMID:19268478	20151203	RGD		mRNA,protein:decreased expression,decreased activity:liver:	
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1322398	D	RGD:1581429|PMID:16778189	19990101	RGD			
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1322398	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:299	adenocarcinoma		ISO	RGD:1322398	D	RGD:1581429|PMID:16778189	19990101	RGD			
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:3168	squamous cell neoplasm		ISO	RGD:1322398	D	RGD:1581429|PMID:16778189	19990101	RGD			
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:3275	thymoma		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:3905	lung carcinoma		ISO	RGD:1322398	D	RGD:1581429|PMID:16778189	19990101	RGD			
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:4552	large cell carcinoma		ISO	RGD:1322398	D	RGD:1581429|PMID:16778189	19990101	RGD			
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1322398	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15720808
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311114	Strap	serine/threonine kinase receptor associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311115	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311115	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311115	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:1324	lung cancer		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311115	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:1909	melanoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311115	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311115	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311115	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322400	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311115	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311115	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322400	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311115	Ap3s1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322833	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:10283	prostate cancer		ISO	RGD:1322833	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:1115	sarcoma		ISO	RGD:1322833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:12215	oligohydramnios		ISO	RGD:1322833	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:1909	melanoma		ISO	RGD:1322833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:3070	high grade glioma		ISO	RGD:1322833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:3275	thymoma		ISO	RGD:1322833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:4362	cervical cancer		ISO	RGD:1322833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1322833	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:630	genetic disease		ISO	RGD:1322833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:9000807	Megaduodenum		ISO	RGD:1322833	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fetal megacystis	
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322833	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:37183800
1311117	Unc79	unc-79 subunit of NALCN channel complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311120	Med17	mediator complex subunit 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311120	Med17	mediator complex subunit 17	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1322408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868|PMID:28492532
1311120	Med17	mediator complex subunit 17	gene	DOID:0111262	infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly		ISO	RGD:1322408	D	RGD:7240710	20130221	OMIM			
1311120	Med17	mediator complex subunit 17	gene	DOID:0111262	infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly		ISO	RGD:1322408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy | ClinVar Annotator: match by term: Postnatal progressive microcephaly with seizures and brain atrophy	PMID:16199547|PMID:18414213|PMID:20950787|PMID:25741868|PMID:26004231|PMID:26240385|PMID:28492532|PMID:30345598|PMID:30919572|PMID:33756211
1311120	Med17	mediator complex subunit 17	gene	DOID:10534	stomach cancer		ISO	RGD:1322408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311120	Med17	mediator complex subunit 17	gene	DOID:1059	intellectual disability		ISO	RGD:1322408	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1311120	Med17	mediator complex subunit 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311120	Med17	mediator complex subunit 17	gene	DOID:1826	epilepsy		ISO	RGD:1322408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1311120	Med17	mediator complex subunit 17	gene	DOID:1909	melanoma		ISO	RGD:1322408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311120	Med17	mediator complex subunit 17	gene	DOID:289	endometriosis		ISO	RGD:1322408	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
1311120	Med17	mediator complex subunit 17	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311120	Med17	mediator complex subunit 17	gene	DOID:4362	cervical cancer		ISO	RGD:1322408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311120	Med17	mediator complex subunit 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311120	Med17	mediator complex subunit 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311120	Med17	mediator complex subunit 17	gene	DOID:630	genetic disease		ISO	RGD:1322408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311120	Med17	mediator complex subunit 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311121	Ell	elongation factor for RNA polymerase II	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311121	Ell	elongation factor for RNA polymerase II	gene	DOID:10534	stomach cancer		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311121	Ell	elongation factor for RNA polymerase II	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311121	Ell	elongation factor for RNA polymerase II	gene	DOID:1115	sarcoma		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311121	Ell	elongation factor for RNA polymerase II	gene	DOID:1324	lung cancer		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311121	Ell	elongation factor for RNA polymerase II	gene	DOID:3275	thymoma		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311121	Ell	elongation factor for RNA polymerase II	gene	DOID:4362	cervical cancer		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311121	Ell	elongation factor for RNA polymerase II	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311121	Ell	elongation factor for RNA polymerase II	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311121	Ell	elongation factor for RNA polymerase II	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311122	Smim14	small integral membrane protein 14	gene	DOID:3275	thymoma		ISO	RGD:1606130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311122	Smim14	small integral membrane protein 14	gene	DOID:4362	cervical cancer		ISO	RGD:1606130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311122	Smim14	small integral membrane protein 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311122	Smim14	small integral membrane protein 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311123	Slc47a1	solute carrier family 47 member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311123	Slc47a1	solute carrier family 47 member 1	gene	DOID:1115	sarcoma		ISO	RGD:1605371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311123	Slc47a1	solute carrier family 47 member 1	gene	DOID:1909	melanoma		ISO	RGD:1605371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311123	Slc47a1	solute carrier family 47 member 1	gene	DOID:3275	thymoma		ISO	RGD:1605371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311123	Slc47a1	solute carrier family 47 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311123	Slc47a1	solute carrier family 47 member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311123	Slc47a1	solute carrier family 47 member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311123	Slc47a1	solute carrier family 47 member 1	gene	DOID:557	kidney disease		ISO	RGD:1605371	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:24001450|PMID:35710981
1311123	Slc47a1	solute carrier family 47 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311123	Slc47a1	solute carrier family 47 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311123	Slc47a1	solute carrier family 47 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311124	Ddx49	DEAD-box helicase 49	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311124	Ddx49	DEAD-box helicase 49	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311124	Ddx49	DEAD-box helicase 49	gene	DOID:1324	lung cancer		ISO	RGD:1322415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311124	Ddx49	DEAD-box helicase 49	gene	DOID:4362	cervical cancer		ISO	RGD:1322415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311124	Ddx49	DEAD-box helicase 49	gene	DOID:5041	esophageal cancer		ISO	RGD:1322415	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311124	Ddx49	DEAD-box helicase 49	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311124	Ddx49	DEAD-box helicase 49	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311124	Ddx49	DEAD-box helicase 49	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311124	Ddx49	DEAD-box helicase 49	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311125	Slc16a11	solute carrier family 16, member 11	gene	DOID:4362	cervical cancer		ISO	RGD:1322416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311126	Ttc39a	tetratricopeptide repeat domain 39A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311126	Ttc39a	tetratricopeptide repeat domain 39A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311126	Ttc39a	tetratricopeptide repeat domain 39A	gene	DOID:0060058	lymphoma		ISO	RGD:1322418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311126	Ttc39a	tetratricopeptide repeat domain 39A	gene	DOID:10534	stomach cancer		ISO	RGD:1322418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311126	Ttc39a	tetratricopeptide repeat domain 39A	gene	DOID:1324	lung cancer		ISO	RGD:1322418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311126	Ttc39a	tetratricopeptide repeat domain 39A	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1322418	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	
1311126	Ttc39a	tetratricopeptide repeat domain 39A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311126	Ttc39a	tetratricopeptide repeat domain 39A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311126	Ttc39a	tetratricopeptide repeat domain 39A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311126	Ttc39a	tetratricopeptide repeat domain 39A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311126	Ttc39a	tetratricopeptide repeat domain 39A	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1322418	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:17114358
1311126	Ttc39a	tetratricopeptide repeat domain 39A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311127	Gcm2	glial cells missing transcription factor 2	gene	DOID:0061150	familial isolated hypoparathyroidism 1		ISO	RGD:1322420	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated 1	PMID:15728199|PMID:21642377|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032|PMID:33471711|PMID:33536578|PMID:35038313|PMID:38130397
1311127	Gcm2	glial cells missing transcription factor 2	gene	DOID:0061151	familial isolated hypoparathyroidism 2		ISO	RGD:1322420	D	RGD:7240710	20200520	OMIM			
1311127	Gcm2	glial cells missing transcription factor 2	gene	DOID:0061151	familial isolated hypoparathyroidism 2		ISO	RGD:1322420	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2 | ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated, 2	PMID:12682016|PMID:15728199|PMID:15863676|PMID:16697534|PMID:18182452|PMID:18583467|PMID:18712808|PMID:21642377|PMID:25279501|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032|PMID:33471711|PMID:33536578|PMID:35038313|PMID:38130397|PMID:38586466|PMID:40329145|PMID:9799239
1311127	Gcm2	glial cells missing transcription factor 2	gene	DOID:0111387	familial isolated hypoparathyroidism		ISO	RGD:1322420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: familial isolated hypoparathyroidism	PMID:20190276|PMID:23155703|PMID:25741868|PMID:28492532
1311127	Gcm2	glial cells missing transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1322420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311127	Gcm2	glial cells missing transcription factor 2	gene	DOID:11199	hypoparathyroidism		ISS	RGD:1322421	D	RGD:13592920	20180518	MouseDO		OMIM:146200 | OMIM:307700	
1311127	Gcm2	glial cells missing transcription factor 2	gene	DOID:630	genetic disease		ISO	RGD:1322420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19940031|PMID:20190276|PMID:25741868|PMID:27480553|PMID:28492532
1311127	Gcm2	glial cells missing transcription factor 2	gene	DOID:9003143	Hyperparathyroidism 4		ISO	RGD:1322420	D	RGD:7240710	20190315	OMIM			
1311127	Gcm2	glial cells missing transcription factor 2	gene	DOID:9003143	Hyperparathyroidism 4		ISO	RGD:1322420	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GCM2-related condition | ClinVar Annotator: match by term: Hyperparathyroidism 4	PMID:15728199|PMID:15863676|PMID:18182452|PMID:18712808|PMID:21642377|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032|PMID:33471711|PMID:33536578|PMID:34008892|PMID:35038313|PMID:38130397|PMID:38586466|PMID:40329145
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322422	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:0060058	lymphoma		ISO	RGD:1322422	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17941976
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:0080600	COVID-19		ISO	RGD:1322422	D	RGD:9068941	20200702	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:0111979	immunodeficiency 49		ISO	RGD:1322422	D	RGD:7240710	20190315	OMIM			
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:0111979	immunodeficiency 49		ISO	RGD:1322422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BCL11B-related BAFopathy | ClinVar Annotator: match by term: BCL11B-related disorder | ClinVar Annotator: match by term: IMMUNODEFICIENCY 49 | ClinVar Annotator: match by term: Immunodeficiency 49	PMID:25741868|PMID:27959755|PMID:28492532|PMID:29985992|PMID:32185379|PMID:32659295|PMID:34580403
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:10534	stomach cancer		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:1059	intellectual disability		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:10907	microcephaly		ISO	RGD:1322422	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:1115	sarcoma		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:12849	autistic disorder		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:18199763|PMID:23015591|PMID:24739528|PMID:25741868|PMID:26176759|PMID:26915960|PMID:27959755
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:2340	craniosynostosis		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868|PMID:36275064
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:420	hypertrichosis		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:4362	cervical cancer		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:535	sleep disorder		ISO	RGD:1322422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:36275064
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1322422	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:20972433
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:630	genetic disease		ISO	RGD:1322422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19344873|PMID:25741868|PMID:27535533|PMID:28303347|PMID:28492532|PMID:36275064|PMID:37860968
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:9001031	Retrognathia		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:9003132	Sialorrhea		ISO	RGD:1322422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Drooling	
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:18199763|PMID:23015591|PMID:24739528|PMID:25741868|PMID:26176759|PMID:26915960|PMID:27959755
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:9007661	Dwarfism		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:34580403
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:9007961	Immunodeficiency 126		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 126, susceptibility to	PMID:25741868
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:34580403|PMID:36275064
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:9009214	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		ISO	RGD:1322422	D	RGD:7240710	20190315	OMIM			
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:9009214	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		ISO	RGD:1322422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BCL11B-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SPEECH DELAY, AND T-CELL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | ClinVar Annotator: match by term: intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	PMID:25741868|PMID:27959755|PMID:28492532|PMID:29985992|PMID:34580403|PMID:36176959|PMID:36275064|PMID:38472338
1311128	Bcl11b	BCL11 transcription factor B	gene	DOID:9970	obesity		ISO	RGD:1322422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:36275064
1311129	Prpf38a	pre-mRNA processing factor 38A	gene	DOID:4362	cervical cancer		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311129	Prpf38a	pre-mRNA processing factor 38A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311129	Prpf38a	pre-mRNA processing factor 38A	gene	DOID:5041	esophageal cancer		ISO	RGD:1602851	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311129	Prpf38a	pre-mRNA processing factor 38A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311129	Prpf38a	pre-mRNA processing factor 38A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311129	Prpf38a	pre-mRNA processing factor 38A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311129	Prpf38a	pre-mRNA processing factor 38A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0060260	ptosis		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:28492532
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0060735	generalized severe epidermolysis bullosa simplex 1A		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe	PMID:25741868
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0060738	junctional epidermolysis bullosa non-Herlitz type		ISO	RGD:1322425	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24550734
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0060738	junctional epidermolysis bullosa non-Herlitz type		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type | ClinVar Annotator: match by term: junctional epidermolysis bullosa, non-Herlitz type	PMID:12813757|PMID:16199547|PMID:16473856|PMID:17344927|PMID:17576681|PMID:20301304|PMID:21357940|PMID:24033266|PMID:24319098|PMID:24814191|PMID:25741868|PMID:25803036|PMID:28492532|PMID:28813618|PMID:33274474|PMID:36287101|PMID:9536098
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0060738	junctional epidermolysis bullosa non-Herlitz type		ISS	RGD:1322426	D	RGD:13592920	20230718	MouseDO		OMIM:226650	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0070337	epithelial recurrent erosion dystrophy		ISO	RGD:1322425	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0070337	epithelial recurrent erosion dystrophy		ISO	RGD:1322425	D	RGD:7240710	20171011	OMIM			
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0070337	epithelial recurrent erosion dystrophy		ISO	RGD:1322425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL EROSIONS, RECURRING HEREDITARY | ClinVar Annotator: match by term: EPITHELIAL RECURRENT EROSION DYSTROPHY | ClinVar Annotator: match by term: Epithelial recurrent erosion dystrophy	PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:25676728|PMID:25741868|PMID:26786512|PMID:28492532|PMID:37979963
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:0110054	amelogenesis imperfecta type 1A		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A	PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:25741868|PMID:28492532|PMID:37979963
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron deficiency anemia	PMID:25741868
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:28492532
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:12306	vitiligo		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vitiligo	PMID:25741868
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1322425	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: amelogenesis imperfecta	PMID:25741868
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:3209	junctional epidermolysis bullosa		ISO	RGD:1322425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis | ClinVar Annotator: match by term: Junctional epidermolysis bullosa	PMID:10577906|PMID:11406649|PMID:11851893|PMID:12813757|PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:25741868|PMID:28492532|PMID:30673110|PMID:33393081|PMID:7550320
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:3209	junctional epidermolysis bullosa		ISS	RGD:1322426	D	RGD:13592920	20240829	MouseDO			
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:3209	junctional epidermolysis bullosa	susceptibility	ISO	RGD:1322425	D	RGD:1600884|PMID:7550320	20070329	RGD			
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1322425	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1322425	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:25741868|PMID:28492532
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:693	dental enamel hypoplasia		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enamel hypoplasia	PMID:25741868
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:7998	hyperthyroidism		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:28492532
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:8506	bullous pemphigoid		ISS	RGD:1322426	D	RGD:13592920	20260319	MouseDO			
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9000413	Junctional Epidermolysis Bullosa 4, Intermediate		ISO	RGD:1322425	D	RGD:7240710	20220608	OMIM			
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9000413	Junctional Epidermolysis Bullosa 4, Intermediate		ISO	RGD:1322425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COL17A1-related condition | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate	PMID:10636730|PMID:10951237|PMID:11406649|PMID:14614394|PMID:16199547|PMID:16354180|PMID:16473856|PMID:17344927|PMID:17576681|PMID:19340010|PMID:20301304|PMID:21357940|PMID:24319098|PMID:24668667|PMID:25741868|PMID:28492532|PMID:33393081|PMID:9077475|PMID:9204958|PMID:9536098|PMID:9583744
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9000641	Pain		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:25741868
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9000850	Junctional Epidermolysis Bullosa 1A, Intermediate		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE	PMID:12813757|PMID:25741868
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:28492532
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9005695	Malnutrition		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malnutrition	PMID:25741868
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9007736	Vertigo		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:28492532
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868|PMID:28492532
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:9834	hyperopia		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:28492532
1311130	Col17a1	collagen type XVII alpha 1 chain	gene	DOID:987	alopecia		ISO	RGD:1322425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:25741868
1311131	Cdc42ep1	CDC42 effector protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311131	Cdc42ep1	CDC42 effector protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311131	Cdc42ep1	CDC42 effector protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311132	Exoc3l1	exocyst complex component 3-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311132	Exoc3l1	exocyst complex component 3-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311132	Exoc3l1	exocyst complex component 3-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311132	Exoc3l1	exocyst complex component 3-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311132	Exoc3l1	exocyst complex component 3-like 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311132	Exoc3l1	exocyst complex component 3-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311132	Exoc3l1	exocyst complex component 3-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605832	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311132	Exoc3l1	exocyst complex component 3-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311132	Exoc3l1	exocyst complex component 3-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311134	Neb	nebulin	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1322432	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:25741868
1311134	Neb	nebulin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1311134	Neb	nebulin	gene	DOID:0060320	inguinal hernia		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:0070336	arthrogryposis multiplex congenita-6		ISO	RGD:1322432	D	RGD:7240710	20210616	OMIM			
1311134	Neb	nebulin	gene	DOID:0070336	arthrogryposis multiplex congenita-6		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 | ClinVar Annotator: match by term: NEB-related disorder	PMID:10051637|PMID:16199547|PMID:16917880|PMID:17576681|PMID:18414213|PMID:24033266|PMID:25110572|PMID:25205138|PMID:25296583|PMID:25525159|PMID:25589043|PMID:25741868|PMID:25741874|PMID:26467025|PMID:27854218|PMID:28131200|PMID:28424332|PMID:28492532|PMID:28600779|PMID:29070751|PMID:29274205|PMID:30467404|PMID:30919572|PMID:32153140|PMID:32222963|PMID:32403337|PMID:33333461|PMID:34440373|PMID:34853893|PMID:40661861|PMID:9536098
1311134	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311134	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:7240710	20130731	OMIM			
1311134	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive	PMID:10051637|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:30057997|PMID:30192042|PMID:30265400|PMID:30369353|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30919572|PMID:30950222|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31696431|PMID:31965297|PMID:32062132|PMID:32222963|PMID:32337335|PMID:32403337|PMID:32721234|PMID:32754643|PMID:33060286|PMID:33100332|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34440373|PMID:34782754|PMID:35586607|PMID:36233295|PMID:36474027|PMID:7739042|PMID:9536098
1311134	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2	PMID:10051637|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:30057997|PMID:30192042|PMID:30265400|PMID:30369353|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30919572|PMID:30950222|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31696431|PMID:31965297|PMID:31980526|PMID:32062132|PMID:32222963|PMID:32337335|PMID:32403337|PMID:32721234|PMID:32754643|PMID:33060286|PMID:33100332|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34426522|PMID:34440373|PMID:34782754|PMID:34950897|PMID:35081925|PMID:35586607|PMID:36233295|PMID:36474027|PMID:38187705|PMID:7739042|PMID:9536098
1311134	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the nebulin gene	PMID:10051637|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:30057997|PMID:30192042|PMID:30265400|PMID:30369353|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30919572|PMID:30950222|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31696431|PMID:31965297|PMID:31980526|PMID:32062132|PMID:32222963|PMID:32337335|PMID:32403337|PMID:32721234|PMID:32754643|PMID:33060286|PMID:33100332|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34426522|PMID:34440373|PMID:34782754|PMID:34950897|PMID:35081925|PMID:35586607|PMID:36233295|PMID:36474027|PMID:36697461|PMID:38187705|PMID:7739042|PMID:9536098
1311134	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2	PMID:10051637|PMID:10838258|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356899|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:29970176|PMID:30057997|PMID:30192042|PMID:30265400|PMID:30369353|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30919572|PMID:30950222|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31370824|PMID:31696431|PMID:31965297|PMID:31980526|PMID:32004447|PMID:32062132|PMID:32222963|PMID:32337335|PMID:32343762|PMID:32403337|PMID:32420686|PMID:32721234|PMID:32754643|PMID:33060286|PMID:33100332|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34426522|PMID:34440373|PMID:34782754|PMID:34853893|PMID:34950897|PMID:35081925|PMID:35586607|PMID:36233295|PMID:36474027|PMID:36697461|PMID:36714460|PMID:37667433|PMID:38187705|PMID:7739042|PMID:9536098
1311134	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the nebulin gene	PMID:10051637|PMID:10838258|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356899|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:29970176|PMID:30057997|PMID:30192042|PMID:30265400|PMID:30369353|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30919572|PMID:30950222|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31370824|PMID:31696431|PMID:31965297|PMID:31980526|PMID:32004447|PMID:32062132|PMID:32222963|PMID:32337335|PMID:32343762|PMID:32403337|PMID:32420686|PMID:32721234|PMID:32754643|PMID:33060286|PMID:33100332|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34426522|PMID:34440373|PMID:34782754|PMID:34853893|PMID:34950897|PMID:35081925|PMID:35586607|PMID:36233295|PMID:36474027|PMID:36697461|PMID:36714460|PMID:37667433|PMID:38187705|PMID:38438125|PMID:38544359|PMID:7739042|PMID:9536098
1311134	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive	PMID:10051637|PMID:10838258|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23394784|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356899|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27363342|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:29970176|PMID:30057997|PMID:30192042|PMID:30265400|PMID:30369353|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30919572|PMID:30950222|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31370824|PMID:31696431|PMID:31965297|PMID:31980526|PMID:32004447|PMID:32062132|PMID:32153140|PMID:32222963|PMID:32337335|PMID:32343762|PMID:32403337|PMID:32420686|PMID:32721234|PMID:32754643|PMID:33060286|PMID:33100332|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34426522|PMID:34440373|PMID:34782754|PMID:34853893|PMID:34950897|PMID:35081925|PMID:35586607|PMID:36233295|PMID:36474027|PMID:36697461|PMID:36714460|PMID:37667433|PMID:38187705|PMID:38438125|PMID:38544359|PMID:38634969|PMID:7739042|PMID:9536098
1311134	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive	PMID:10838258|PMID:15221447|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19346529|PMID:19763152|PMID:19944167|PMID:20307669|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24725366|PMID:24753607|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25473036|PMID:25525159|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26573135|PMID:26578207|PMID:26841830|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27739254|PMID:27854218|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29669168|PMID:29792937|PMID:29970176|PMID:30057997|PMID:30192042|PMID:30369353|PMID:30467404|PMID:30679003|PMID:30859559|PMID:30919572|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31370824|PMID:32004447|PMID:32062132|PMID:32153140|PMID:32222963|PMID:32343762|PMID:32403337|PMID:32721234|PMID:32754643|PMID:33060286|PMID:33100332|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34440373|PMID:34782754|PMID:34853893|PMID:34950897|PMID:35081925|PMID:36233295|PMID:36474027|PMID:36714460|PMID:37667433|PMID:38438125|PMID:38544359|PMID:38634969|PMID:9536098
1311134	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEMALINE MYOPATHY 2 | ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy 2, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy type 2	PMID:10051637|PMID:15221447|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19763152|PMID:20307669|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22367672|PMID:22406018|PMID:22941215|PMID:23010307|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23826317|PMID:24033266|PMID:24725366|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25473036|PMID:25525159|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26573135|PMID:26578207|PMID:26841830|PMID:27074222|PMID:27105866|PMID:27168972|PMID:27854218|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28336317|PMID:28357410|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28720891|PMID:28977494|PMID:29070751|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29792937|PMID:29970176|PMID:30057997|PMID:30192042|PMID:30369353|PMID:30467404|PMID:30679003|PMID:30859559|PMID:30919572|PMID:31069529|PMID:31127727|PMID:31230720|PMID:32062132|PMID:32153140|PMID:32222963|PMID:32403337|PMID:32721234|PMID:33060286|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:33820833|PMID:33966749|PMID:34302381|PMID:34440373|PMID:34782754|PMID:34853893|PMID:35081925|PMID:36233295|PMID:36360323|PMID:36714460|PMID:37265148|PMID:37460656|PMID:37525074|PMID:38187705|PMID:38438125|PMID:38544359|PMID:38968056|PMID:38982518|PMID:39194158|PMID:40661861|PMID:9536098
1311134	Neb	nebulin	gene	DOID:0110928	nemaline myopathy 2		ISS	RGD:1322433	D	RGD:13592920	20230718	MouseDO		OMIM:256030	
1311134	Neb	nebulin	gene	DOID:10376	amblyopia		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:10534	stomach cancer		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311134	Neb	nebulin	gene	DOID:10907	microcephaly		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311134	Neb	nebulin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311134	Neb	nebulin	gene	DOID:11162	respiratory failure		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:24033266|PMID:25205138|PMID:28492532
1311134	Neb	nebulin	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:24033266|PMID:28492532
1311134	Neb	nebulin	gene	DOID:11782	astigmatism		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:11836	clubfoot		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868
1311134	Neb	nebulin	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25205138|PMID:28492532
1311134	Neb	nebulin	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
1311134	Neb	nebulin	gene	DOID:1324	lung cancer		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311134	Neb	nebulin	gene	DOID:1596	depressive disorder		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
1311134	Neb	nebulin	gene	DOID:1657	ventricular septal defect		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:1909	melanoma		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25203624|PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:2030	anxiety disorder		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1311134	Neb	nebulin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25203624|PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:2841	asthma		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25205138|PMID:28492532
1311134	Neb	nebulin	gene	DOID:3081	cystic lymphangioma		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	PMID:25741868
1311134	Neb	nebulin	gene	DOID:3191	nemaline myopathy		ISO	RGD:1322432	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Nemaline Myopathy, Dominant | ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy	PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:19232495|PMID:19805734|PMID:19944167|PMID:21798101|PMID:22281206|PMID:22367672|PMID:23010307|PMID:23443021|PMID:23572184|PMID:23715096|PMID:24056153|PMID:25079567|PMID:25110572|PMID:25205138|PMID:25205148|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27105866|PMID:27168972|PMID:27933661|PMID:28132693|PMID:28424332|PMID:28492532|PMID:28977494|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29644095|PMID:30057997|PMID:30467404|PMID:30859559|PMID:32222963|PMID:32721234|PMID:33742171|PMID:9536098
1311134	Neb	nebulin	gene	DOID:3191	nemaline myopathy		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopathies, Nemaline | ClinVar Annotator: match by term: Nemaline Myopathy | ClinVar Annotator: match by term: Nemaline myopathy	PMID:16199547|PMID:16917880|PMID:17576681|PMID:19232495|PMID:22281206|PMID:23010307|PMID:23443021|PMID:23715096|PMID:23826317|PMID:24725366|PMID:25205138|PMID:25525159|PMID:25741868|PMID:27105866|PMID:27854218|PMID:28424332|PMID:28492532|PMID:29644095|PMID:30517146|PMID:31690835|PMID:32153140|PMID:32403337|PMID:33333461|PMID:34440373|PMID:38634969|PMID:40661861|PMID:5221447|PMID:9536098
1311134	Neb	nebulin	gene	DOID:422	congenital structural myopathy		ISO	RGD:1322432	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: congenital structural myopathy	PMID:25741868|PMID:28492532
1311134	Neb	nebulin	gene	DOID:4362	cervical cancer		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25203624|PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:5041	esophageal cancer		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311134	Neb	nebulin	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311134	Neb	nebulin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25203624|PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25203624|PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:630	genetic disease		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:674	cleft palate		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1311134	Neb	nebulin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25203624|PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:767	muscular atrophy		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:24033266|PMID:28492532
1311134	Neb	nebulin	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:24033266|PMID:25741868|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9001722	Dysarthria		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:24033266|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9001733	Tinnitus		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25205138|PMID:25741868|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25741868|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9003539	Hyperacusis		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25205138|PMID:25741868|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311134	Neb	nebulin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1311134	Neb	nebulin	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1322432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:16199547|PMID:25205138|PMID:25741868|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:24033266|PMID:25741868|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9005883	Pleural Effusion		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleural effusion	PMID:25741868
1311134	Neb	nebulin	gene	DOID:9006095	Ascites		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:25741868
1311134	Neb	nebulin	gene	DOID:9006178	Dysphonia		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysphonia	PMID:24033266|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25203624|PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9007661	Dwarfism		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9007736	Vertigo		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25205138|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:25741868
1311134	Neb	nebulin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9834	hyperopia		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25205138|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9840	esotropia		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:26467025|PMID:28492532
1311134	Neb	nebulin	gene	DOID:9884	muscular dystrophy		ISO	RGD:1322432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:1606160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:1115	sarcoma		ISO	RGD:1606160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:1606160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:1606160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:5041	esophageal cancer		ISO	RGD:1606160	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311135	Aasdh	aminoadipate-semialdehyde dehydrogenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311136	Tmem259	transmembrane protein 259	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311136	Tmem259	transmembrane protein 259	gene	DOID:1909	melanoma		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311136	Tmem259	transmembrane protein 259	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311136	Tmem259	transmembrane protein 259	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311136	Tmem259	transmembrane protein 259	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311136	Tmem259	transmembrane protein 259	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311136	Tmem259	transmembrane protein 259	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311136	Tmem259	transmembrane protein 259	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311138	Zfp251	zinc finger protein 251	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311138	Zfp251	zinc finger protein 251	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311138	Zfp251	zinc finger protein 251	gene	DOID:1324	lung cancer		ISO	RGD:1322438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311138	Zfp251	zinc finger protein 251	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311138	Zfp251	zinc finger protein 251	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311139	Aire	autoimmune regulator	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322440	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:18682433|PMID:20407228|PMID:26084028|PMID:28492532|PMID:28911151|PMID:36732629
1311139	Aire	autoimmune regulator	gene	DOID:0050167	autoimmune polyendocrine syndrome type 1		ISO	RGD:1322440	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311139	Aire	autoimmune regulator	gene	DOID:0050167	autoimmune polyendocrine syndrome type 1		ISO	RGD:1322440	D	RGD:7240710	20130221	OMIM			
1311139	Aire	autoimmune regulator	gene	DOID:0050167	autoimmune polyendocrine syndrome type 1		ISO	RGD:1322440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I | ClinVar Annotator: match by term: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune Polyglandular Syndrome Type 1 | ClinVar Annotator: match by term: Autoimmune polyendocrinopathy syndrome, type I | ClinVar Annotator: match by term: Polyglandular autoimmune syndrome type 1 | ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 | ClinVar Annotator: match by term: autoimmune polyendocrine syndrome type 1	PMID:10084559|PMID:10677297|PMID:10946904|PMID:11275943|PMID:11524731|PMID:11524733|PMID:11600535|PMID:11836330|PMID:12050215|PMID:12173302|PMID:12471056|PMID:12542742|PMID:12843157|PMID:14557425|PMID:14974083|PMID:15511668|PMID:15712268|PMID:15811934|PMID:16114041|PMID:16166780|PMID:16199547|PMID:16684821|PMID:16774540|PMID:16792967|PMID:16965330|PMID:17101293|PMID:17118990|PMID:17189144|PMID:17220063|PMID:17289071|PMID:17576681|PMID:17675238|PMID:17997173|PMID:18200029|PMID:18274776|PMID:18320920|PMID:1836330|PMID:18399903|PMID:18414213|PMID:18426830|PMID:18616706|PMID:18682433|PMID:18708298|PMID:18713028|PMID:18728167|PMID:19209622|PMID:19322061|PMID:19758376|PMID:19807739|PMID:19863576|PMID:20140861|PMID:20185822|PMID:20407228|PMID:20453472|PMID:20718774|PMID:21070315|PMID:21295522|PMID:21505073|PMID:21508664|PMID:21724609|PMID:21865375|PMID:21932610|PMID:22024611|PMID:22104652|PMID:22162465|PMID:22659170|PMID:23000069|PMID:23074189|PMID:23133448|PMID:23320549|PMID:23342054|PMID:23643663|PMID:24014553|PMID:24158785|PMID:24703644|PMID:25064028|PMID:25068407|PMID:25361846|PMID:25367057|PMID:25402387|PMID:25741868|PMID:26084028|PMID:26114819|PMID:26141571|PMID:26467025|PMID:26650942|PMID:26912174|PMID:26915675|PMID:27048654|PMID:27105486|PMID:27253668|PMID:27266815|PMID:27504588|PMID:27588307|PMID:27646917|PMID:27884173|PMID:28222032|PMID:28323927|PMID:28446514|PMID:28472507|PMID:28492532|PMID:28567288|PMID:28911151|PMID:28919897|PMID:29129473|PMID:29335648|PMID:2943776|PMID:29437776|PMID:29666621|PMID:30003128|PMID:30287219|PMID:30290665|PMID:30697212|PMID:31420020|PMID:31433868|PMID:31589614|PMID:31874111|PMID:32358377|PMID:32441320|PMID:32531373|PMID:32627016|PMID:32767280|PMID:32888943|PMID:33057194|PMID:33225392|PMID:33247909|PMID:33352647|PMID:33434148|PMID:33468135|PMID:33530632|PMID:33574239|PMID:33599910|PMID:34003463|PMID:34008892|PMID:34061776|PMID:34194389|PMID:34390440|PMID:34477806|PMID:34525787|PMID:34573280|PMID:34846681|PMID:34991662|PMID:35482138|PMID:35521792|PMID:35683627|PMID:35753512|PMID:35982159|PMID:36732629|PMID:37017251|PMID:37898571|PMID:38524621|PMID:38605470|PMID:39292801|PMID:9398839|PMID:9398840|PMID:9536098|PMID:9717837|PMID:9837820|PMID:9856486|PMID:9888391|PMID:9921903
1311139	Aire	autoimmune regulator	gene	DOID:0050167	autoimmune polyendocrine syndrome type 1		ISS	RGD:1322441	D	RGD:13592920	20230718	MouseDO		OMIM:240300	
1311139	Aire	autoimmune regulator	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cobalamin deficiency	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:10608	celiac disease		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:1115	sarcoma		ISO	RGD:1322440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311139	Aire	autoimmune regulator	gene	DOID:11199	hypoparathyroidism		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:11830	myopia		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:18682433|PMID:20407228|PMID:26084028|PMID:28492532|PMID:28911151|PMID:36732629
1311139	Aire	autoimmune regulator	gene	DOID:11963	esophagitis		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophagitis	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:12842	Guillain-Barre syndrome		ISS	RGD:1322441	D	RGD:13592920	20180518	MouseDO		OMIM:139393	
1311139	Aire	autoimmune regulator	gene	DOID:12894	Sjogren's syndrome		ISS	RGD:1322441	D	RGD:13592920	20180518	MouseDO		OMIM:270150	
1311139	Aire	autoimmune regulator	gene	DOID:13074	tinea unguium		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinea unguium	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exocrine pancreatic insufficiency	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:14040	autoimmune polyendocrine syndrome		IMP		D	RGD:38599145|PMID:29959280	20200910	RGD			
1311139	Aire	autoimmune regulator	gene	DOID:14040	autoimmune polyendocrine syndrome		ISO	RGD:1322440	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16982213
1311139	Aire	autoimmune regulator	gene	DOID:14040	autoimmune polyendocrine syndrome		ISO	RGD:1322440	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: APECED	PMID:10084559|PMID:10677297|PMID:11207636|PMID:11298085|PMID:11524731|PMID:11524733|PMID:11836330|PMID:12050215|PMID:12173302|PMID:14557425|PMID:16114041|PMID:16199547|PMID:16684821|PMID:16704638|PMID:16965330|PMID:17118990|PMID:17189144|PMID:17220063|PMID:17547716|PMID:18426830|PMID:18616706|PMID:19265170|PMID:19807739|PMID:20407228|PMID:21295522|PMID:21574164|PMID:22162465|PMID:23620608|PMID:24948345|PMID:25707324|PMID:25741868|PMID:26084028|PMID:26141571|PMID:26467025|PMID:27219120|PMID:27588307|PMID:28323927|PMID:28492532|PMID:28911151|PMID:29069385|PMID:30287219|PMID:31526676|PMID:31589614|PMID:32343891|PMID:32557834|PMID:33359892|PMID:33530632|PMID:33864888|PMID:34401309|PMID:34758253|PMID:34938581|PMID:34991662|PMID:35753512|PMID:36191466|PMID:9398840|PMID:9837820|PMID:9888391|PMID:9921903
1311139	Aire	autoimmune regulator	gene	DOID:14040	autoimmune polyendocrine syndrome		ISO	RGD:1322440	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: APECED	PMID:10084559|PMID:10677297|PMID:11524731|PMID:11836330|PMID:12173302|PMID:16199547|PMID:16965330|PMID:17101293|PMID:17547716|PMID:22162465|PMID:24948345|PMID:25741868|PMID:26141571|PMID:27588307|PMID:28492532|PMID:30290665|PMID:32373116|PMID:34426522|PMID:35753512
1311139	Aire	autoimmune regulator	gene	DOID:14040	autoimmune polyendocrine syndrome	susceptibility	ISO	RGD:1322440	D	RGD:1599008|PMID:9921903	20070111	RGD		Polyendocrinopathies, Autoimmune	
1311139	Aire	autoimmune regulator	gene	DOID:1508	candidiasis		ISO	RGD:1322440	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12050215
1311139	Aire	autoimmune regulator	gene	DOID:1596	depressive disorder		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:18682433|PMID:20407228|PMID:26084028|PMID:28492532|PMID:28911151|PMID:36732629
1311139	Aire	autoimmune regulator	gene	DOID:1826	epilepsy		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18682433|PMID:20407228|PMID:26084028|PMID:28492532|PMID:28911151|PMID:36732629
1311139	Aire	autoimmune regulator	gene	DOID:2030	anxiety disorder		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:2237	hepatitis		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatitis	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:2355	anemia		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:2841	asthma		ISO	RGD:1322440	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:18682433|PMID:20407228|PMID:26084028|PMID:28492532|PMID:28911151|PMID:36732629
1311139	Aire	autoimmune regulator	gene	DOID:3275	thymoma		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311139	Aire	autoimmune regulator	gene	DOID:4029	gastritis		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastritis	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:5679	retinal disease		ISO	RGD:1322440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10677297|PMID:11207636|PMID:11298085|PMID:11343230|PMID:11524731|PMID:11524733|PMID:11600535|PMID:12050215|PMID:12503856|PMID:12843157|PMID:14557425|PMID:14582926|PMID:14974083|PMID:16114041|PMID:16313305|PMID:16684821|PMID:16704638|PMID:16784312|PMID:16965330|PMID:17118990|PMID:17189144|PMID:17220063|PMID:17289071|PMID:18248641|PMID:18264745|PMID:18274776|PMID:18320920|PMID:18426830|PMID:18568643|PMID:18616706|PMID:18682433|PMID:18708298|PMID:19037923|PMID:19246027|PMID:19265170|PMID:19807739|PMID:20181983|PMID:20407228|PMID:20718774|PMID:20859117|PMID:21295522|PMID:21574164|PMID:22024611|PMID:23620608|PMID:24948345|PMID:25707324|PMID:25741868|PMID:26084028|PMID:26141571|PMID:26467025|PMID:27219120|PMID:27253668|PMID:27588307|PMID:28323927|PMID:28458664|PMID:28492532|PMID:28911151|PMID:29069385|PMID:30287219|PMID:30863741|PMID:31526676|PMID:31588815|PMID:31589614|PMID:32343891|PMID:32557834|PMID:33225392|PMID:33359892|PMID:33530632|PMID:33864888|PMID:34078422|PMID:34235359|PMID:34401309|PMID:34758253|PMID:34938581|PMID:34991662|PMID:35753512|PMID:36191466|PMID:37144156|PMID:9398839|PMID:9398840|PMID:9837820|PMID:9888391|PMID:9921903
1311139	Aire	autoimmune regulator	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1322440	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:16965330|PMID:19758376|PMID:25741868|PMID:28446514|PMID:28492532|PMID:28911151
1311139	Aire	autoimmune regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1311139	Aire	autoimmune regulator	gene	DOID:630	genetic disease		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10677297|PMID:11524731|PMID:12050215|PMID:17118990|PMID:21724609|PMID:25741868|PMID:26141571|PMID:28323927|PMID:28492532|PMID:28919897|PMID:35521792|PMID:9837820
1311139	Aire	autoimmune regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311139	Aire	autoimmune regulator	gene	DOID:718	autoimmune hemolytic anemia		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune hemolytic anemia	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:7998	hyperthyroidism		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:18682433|PMID:20407228|PMID:26084028|PMID:28492532|PMID:28911151|PMID:36732629
1311139	Aire	autoimmune regulator	gene	DOID:869	cholesteatoma		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholesteatoma	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1322440	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasal polyposis	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:9001733	Tinnitus		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:18682433|PMID:20407228|PMID:26084028|PMID:28492532|PMID:28911151|PMID:36732629
1311139	Aire	autoimmune regulator	gene	DOID:9002315	Kidney Calculi		ISO	RGD:1322440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kidney stone	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:9002720	Splenomegaly		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1322440	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26168014
1311139	Aire	autoimmune regulator	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperoxaluria	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1322440	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: enlarged liver	PMID:25741868
1311139	Aire	autoimmune regulator	gene	DOID:9005643	Experimental Diabetes Mellitus	susceptibility	ISO	RGD:1322441	D	RGD:2306853|PMID:18399912	20090508	RGD			
1311139	Aire	autoimmune regulator	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:18682433|PMID:20407228|PMID:26084028|PMID:28492532|PMID:28911151|PMID:36732629
1311139	Aire	autoimmune regulator	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:18682433|PMID:20407228|PMID:26084028|PMID:28492532|PMID:28911151|PMID:36732629
1311139	Aire	autoimmune regulator	gene	DOID:9007661	Dwarfism		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:9007736	Vertigo		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:18682433|PMID:20407228|PMID:26084028|PMID:28492532|PMID:28911151|PMID:36732629
1311139	Aire	autoimmune regulator	gene	DOID:9008385	Vomiting		ISO	RGD:1322440	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1311139	Aire	autoimmune regulator	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868|PMID:39292801
1311139	Aire	autoimmune regulator	gene	DOID:9970	obesity		ISO	RGD:1322440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:18682433|PMID:20407228|PMID:26084028|PMID:28492532|PMID:28911151|PMID:36732629
1311141	Angptl6	angiopoietin-like 6	gene	DOID:0080600	COVID-19		ISO	RGD:1322443	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311141	Angptl6	angiopoietin-like 6	gene	DOID:11714	gestational diabetes		ISO	RGD:1322443	D	RGD:329845845|PMID:35876300	20230531	RGD		protein:increased expression:blood serum,umbilical artery (human)	
1311141	Angptl6	angiopoietin-like 6	gene	DOID:1909	melanoma		ISO	RGD:1322443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311141	Angptl6	angiopoietin-like 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322443	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1311141	Angptl6	angiopoietin-like 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311141	Angptl6	angiopoietin-like 6	gene	DOID:9970	obesity		ISS	RGD:1322444	D	RGD:13592920	20180518	MouseDO		OMIM:601665	
1311142	Garin5a	golgi associated RAB2 interactor 5A	gene	DOID:4362	cervical cancer		ISO	RGD:1604551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311142	Garin5a	golgi associated RAB2 interactor 5A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311142	Garin5a	golgi associated RAB2 interactor 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311143	Dsg2	desmoglein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1311143	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:243065273|PMID:24086444	20230417	RGD		protein:decreased expression:septum, heart left ventricle, heart right ventricle (human)	
1311143	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:401851070|PMID:30304392	20231030	RGD			
1311143	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28341588|PMID:28492532|PMID:28578331|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29544605|PMID:30454721|PMID:30790397|PMID:30885746|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572
1311143	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26688388|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28323875|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28578331|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29343803|PMID:29396286|PMID:29544605|PMID:29606362|PMID:29759408|PMID:30177324|PMID:30454721|PMID:30790397|PMID:30847666|PMID:30885746|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31645976|PMID:31845994|PMID:31983221|PMID:32746448|PMID:32877757|PMID:32880476|PMID:33232181|PMID:33652588|PMID:33673806|PMID:33919104|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203
1311143	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27055156|PMID:27114410|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36621286|PMID:36837563|PMID:37328711|PMID:37418234|PMID:37477868|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27055156|PMID:27114410|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36621286|PMID:36837563|PMID:37328711|PMID:37418234|PMID:37477868|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24086444|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24585727|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26585103|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27055156|PMID:27114410|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32522011|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33684294|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34400560|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35352813|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36138163|PMID:36264615|PMID:36357925|PMID:36621286|PMID:36837563|PMID:37288269|PMID:37328711|PMID:37418234|PMID:37477868|PMID:39227800|PMID:39253717|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24086444|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24585727|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26585103|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27055156|PMID:27114410|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32522011|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33684294|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:33996946|PMID:34012299|PMID:34036930|PMID:34317382|PMID:34400560|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35352813|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36138163|PMID:36264615|PMID:36357925|PMID:36621286|PMID:36837563|PMID:37288269|PMID:37328711|PMID:37418234|PMID:37477868|PMID:38417843|PMID:38691546|PMID:38757491|PMID:39227800|PMID:39253717|PMID:40115818|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: arrhythmogenic right ventricular cardiomyopathy	PMID:16199547|PMID:16505173|PMID:16773573|PMID:17105751|PMID:17576681|PMID:19151369|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:2040044|PMID:20400443|PMID:20716751|PMID:20829228|PMID:20857253|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871885|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24436435|PMID:24704780|PMID:25209314|PMID:25351510|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26138720|PMID:26585103|PMID:26850880|PMID:26899768|PMID:27532257|PMID:28254188|PMID:28254189|PMID:28283360|PMID:28323875|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:29016939|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29544605|PMID:29750433|PMID:29759408|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30919572|PMID:31156706|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32268277|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32877757|PMID:32880476|PMID:33194879|PMID:33238575|PMID:33684294|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34400560|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35087879|PMID:35352813|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36264615|PMID:36357925|PMID:36837563|PMID:37418234|PMID:37477868|PMID:37745463|PMID:38417843|PMID:38435382|PMID:38691546|PMID:38895864|PMID:39155900|PMID:39706847|PMID:40115818|PMID:40123482|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1322447	D	RGD:11087399|PMID:26085008	20231020	RGD			
1311143	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISS	RGD:1322447	D	RGD:13592920	20240118	MouseDO			
1311143	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	ameliorates	ISO	RGD:1322447	D	RGD:401851071|PMID:32376797	20231030	RGD			
1311143	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	severity	ISO	RGD:1322446	D	RGD:401851076|PMID:30239670	20231030	RGD			
1311143	Dsg2	desmoglein 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	susceptibility	ISO	RGD:1322446	D	RGD:401851081|PMID:30454721	20231030	RGD		DNA:mutation:cds: p.Phe531Cys(human)	
1311143	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28166811|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29773157|PMID:29802319|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:33087929|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29773157|PMID:29802319|PMID:30391969|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32659924|PMID:33087929|PMID:33238575|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29773157|PMID:29802319|PMID:30391969|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32659924|PMID:33087929|PMID:33238575|PMID:33652588|PMID:33949662|PMID:35087879|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29606362|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33652588|PMID:33673806|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29606362|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33652588|PMID:33673806|PMID:33919104|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31024045|PMID:31042466|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35819174|PMID:36138163|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37418234|PMID:37477868|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31024045|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37328711|PMID:37418234|PMID:37477868|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31024045|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:36138163|PMID:36264615|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37328711|PMID:37418234|PMID:37477868|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23128240|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31024045|PMID:31130284|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36138163|PMID:36264615|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37288269|PMID:37328711|PMID:37418234|PMID:37477868|PMID:39227800|PMID:39253717|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23128240|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26585103|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31024045|PMID:31130284|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32522011|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34400560|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36138163|PMID:36264615|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37288269|PMID:37328711|PMID:37418234|PMID:37477868|PMID:38417843|PMID:38691546|PMID:39227800|PMID:39253717|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23128240|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24618965|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26296472|PMID:26498160|PMID:26585103|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:30996762|PMID:31019283|PMID:31024045|PMID:31130284|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31655555|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32522011|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:33996946|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34400560|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36138163|PMID:36264615|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37288269|PMID:37328711|PMID:37418234|PMID:37477868|PMID:38417843|PMID:38691546|PMID:38757491|PMID:39227800|PMID:39253717|PMID:40115818|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:16199547|PMID:16505173|PMID:16773573|PMID:17105751|PMID:17576681|PMID:18632414|PMID:19151369|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:2040044|PMID:20400443|PMID:20716751|PMID:20829228|PMID:20857253|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23178689|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24618965|PMID:24704780|PMID:25209314|PMID:25213555|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26585103|PMID:26850880|PMID:26899768|PMID:27532257|PMID:28254188|PMID:28254189|PMID:28288337|PMID:28471438|PMID:28492532|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28878402|PMID:29016939|PMID:29062102|PMID:29178656|PMID:29544605|PMID:29750433|PMID:29759408|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30699244|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30993396|PMID:31156706|PMID:31183845|PMID:31386562|PMID:31402444|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32268277|PMID:32522011|PMID:32569162|PMID:32665702|PMID:32686758|PMID:32877757|PMID:32880476|PMID:33087929|PMID:33238575|PMID:33500567|PMID:33684294|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34400560|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35087879|PMID:35653365|PMID:35819174|PMID:35941102|PMID:36136372|PMID:36138163|PMID:36264615|PMID:36837563|PMID:37288269|PMID:37418234|PMID:37477868|PMID:37745463|PMID:37937776|PMID:38375917|PMID:38417843|PMID:38435382|PMID:38691546|PMID:38895864|PMID:39155900|PMID:39227800|PMID:39253717|PMID:39706847|PMID:40115818|PMID:40123482|PMID:41178662|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322446	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:0060036	intrinsic cardiomyopathy		ISS	RGD:1322447	D	RGD:13592920	20240118	MouseDO			
1311143	Dsg2	desmoglein 2	gene	DOID:0060319	cardiac arrest		ISO	RGD:1322446	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:23861362|PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:1322446	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103
1311143	Dsg2	desmoglein 2	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:1322446	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9	PMID:16199547|PMID:16773573|PMID:17105751|PMID:19151369|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21859740|PMID:23671136|PMID:24033266|PMID:25741868|PMID:25820315|PMID:27532257|PMID:28283360|PMID:28492532|PMID:28600387|PMID:30731207|PMID:30790397|PMID:31386562|PMID:31402444|PMID:33194879|PMID:33238575|PMID:35087879|PMID:35653365|PMID:35819174
1311143	Dsg2	desmoglein 2	gene	DOID:0110081	arrhythmogenic right ventricular dysplasia 10		ISO	RGD:1322446	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311143	Dsg2	desmoglein 2	gene	DOID:0110081	arrhythmogenic right ventricular dysplasia 10		ISO	RGD:1322446	D	RGD:7240710	20130221	OMIM			
1311143	Dsg2	desmoglein 2	gene	DOID:0110081	arrhythmogenic right ventricular dysplasia 10		ISO	RGD:1322446	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10	PMID:16199547|PMID:16505173|PMID:16773573|PMID:17105751|PMID:17576681|PMID:18632414|PMID:19151369|PMID:19635863|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:2040044|PMID:20400443|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22036071|PMID:22214898|PMID:23071725|PMID:23178689|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871885|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24086444|PMID:24436435|PMID:24585727|PMID:24704780|PMID:25209314|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26585103|PMID:26850880|PMID:26899768|PMID:27532257|PMID:28254188|PMID:28254189|PMID:28283360|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28611029|PMID:29016939|PMID:29062102|PMID:29178656|PMID:29544605|PMID:29606362|PMID:29750433|PMID:29759408|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30524916|PMID:30731207|PMID:30765282|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30993396|PMID:30996762|PMID:31156706|PMID:31376648|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31638835|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32268277|PMID:32569162|PMID:32665702|PMID:32686758|PMID:32877757|PMID:32880476|PMID:33087929|PMID:33194879|PMID:33238575|PMID:33500567|PMID:33684294|PMID:33789662|PMID:33874732|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34400560|PMID:34428338|PMID:34500006|PMID:34984526|PMID:34998950|PMID:35087879|PMID:35653365|PMID:35819174|PMID:35947370|PMID:36136372|PMID:36138163|PMID:36264615|PMID:36360260|PMID:36837563|PMID:37418234|PMID:37477868|PMID:37745463|PMID:37937776|PMID:38375917|PMID:38417843|PMID:38435382|PMID:38691546|PMID:38895864|PMID:39071538|PMID:39155900|PMID:39706847|PMID:40115818|PMID:40123482|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:0110081	arrhythmogenic right ventricular dysplasia 10		ISS	RGD:1322447	D	RGD:13592920	20230718	MouseDO		OMIM:610193	
1311143	Dsg2	desmoglein 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1322446	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:21606396|PMID:23071725|PMID:23396983|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28087566|PMID:28472724|PMID:28492532|PMID:29038103|PMID:29517769|PMID:30847666|PMID:32268277|PMID:35087879
1311143	Dsg2	desmoglein 2	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1322446	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:0110458	dilated cardiomyopathy 1BB		ISO	RGD:1322446	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311143	Dsg2	desmoglein 2	gene	DOID:0110458	dilated cardiomyopathy 1BB		ISO	RGD:1322446	D	RGD:7240710	20130425	OMIM			
1311143	Dsg2	desmoglein 2	gene	DOID:0110458	dilated cardiomyopathy 1BB		ISO	RGD:1322446	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DSG2-related condition | ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB | ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy	PMID:16199547|PMID:16773573|PMID:17105751|PMID:20031617|PMID:20152563|PMID:2040044|PMID:20400443|PMID:20857253|PMID:21606396|PMID:21636032|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23671136|PMID:23810894|PMID:23861362|PMID:23871885|PMID:24033266|PMID:25209314|PMID:25351510|PMID:25525159|PMID:25741868|PMID:25820315|PMID:26220970|PMID:26230511|PMID:26585103|PMID:26850880|PMID:27532257|PMID:28074886|PMID:28254188|PMID:28254189|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:29178656|PMID:29544605|PMID:29759408|PMID:29802319|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30790397|PMID:30847666|PMID:30885746|PMID:31156706|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31737537|PMID:32268277|PMID:32569162|PMID:32665702|PMID:32686758|PMID:32877757|PMID:33238575|PMID:33500567|PMID:33684294|PMID:33949662|PMID:34500006|PMID:35352813|PMID:35819174|PMID:36138163|PMID:36264615|PMID:37418234|PMID:38375917|PMID:38417843|PMID:39155900|PMID:39706847|PMID:40115818|PMID:40123482|PMID:41652012
1311143	Dsg2	desmoglein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1322446	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1311143	Dsg2	desmoglein 2	gene	DOID:1115	sarcoma		ISO	RGD:1322446	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:11830	myopia		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:23861362|PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		IEP		D	RGD:264347602|PMID:26708424	20230418	RGD		protein:increased expression:heart (rat)	
1311143	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:11064672|PMID:18678517	20231020	RGD		DNA:polymorphism:cds:c.209G > A (p.V55M)(human)	
1311143	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28492532|PMID:29802319|PMID:30885746
1311143	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28492532|PMID:28600387|PMID:29802319|PMID:30885746
1311143	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29802319|PMID:30885746|PMID:31983221
1311143	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30885746|PMID:31983221
1311143	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30615648|PMID:30885746|PMID:31983221|PMID:34137518
1311143	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26220970|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28074886|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30615648|PMID:30885746|PMID:31983221|PMID:34137518|PMID:34998950
1311143	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26220970|PMID:26230511|PMID:28074886|PMID:28087566|PMID:28323875|PMID:28492532|PMID:29016939|PMID:29802319|PMID:30615648|PMID:30885746|PMID:31983221|PMID:34137518|PMID:34998950
1311143	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322446	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy	PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322447	D	RGD:401851067|PMID:21455723	20231030	RGD			
1311143	Dsg2	desmoglein 2	gene	DOID:1324	lung cancer		ISO	RGD:1322446	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1322446	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879
1311143	Dsg2	desmoglein 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1322446	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23071725|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28087566|PMID:28472724|PMID:28492532|PMID:29038103|PMID:32268277|PMID:35087879
1311143	Dsg2	desmoglein 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:3275	thymoma		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311143	Dsg2	desmoglein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311143	Dsg2	desmoglein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322446	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:24033266|PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311143	Dsg2	desmoglein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322446	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:23861362|PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1322446	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098
1311143	Dsg2	desmoglein 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:23861362|PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:9003139	Cardiac Fibrosis	disease_progression	ISO	RGD:1322447	D	RGD:401851067|PMID:21455723	20231030	RGD			
1311143	Dsg2	desmoglein 2	gene	DOID:9003936	Cardiomegaly		IEP		D	RGD:264347602|PMID:26708424	20230418	RGD		protein:increased expression:heart (rat)	
1311143	Dsg2	desmoglein 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:16199547|PMID:17105751|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21859740|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30731207|PMID:30790397|PMID:31386562|PMID:31402444|PMID:33238575|PMID:35087879|PMID:35653365
1311143	Dsg2	desmoglein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1311143	Dsg2	desmoglein 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:23861362|PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:1322446	D	RGD:401851080|PMID:34245117	20231030	RGD			
1311143	Dsg2	desmoglein 2	gene	DOID:9651	systolic heart failure		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Systolic heart failure	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
1311143	Dsg2	desmoglein 2	gene	DOID:9970	obesity		ISO	RGD:1322446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:23861362|PMID:25741868|PMID:28492532
1311144	Dtwd1	DTW motif tRNA-uridine aminocarboxypropyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311144	Dtwd1	DTW motif tRNA-uridine aminocarboxypropyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311144	Dtwd1	DTW motif tRNA-uridine aminocarboxypropyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604324	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311144	Dtwd1	DTW motif tRNA-uridine aminocarboxypropyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311144	Dtwd1	DTW motif tRNA-uridine aminocarboxypropyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311146	Eps8l1	EPS8 signaling adaptor L1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311146	Eps8l1	EPS8 signaling adaptor L1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311146	Eps8l1	EPS8 signaling adaptor L1	gene	DOID:1324	lung cancer		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311146	Eps8l1	EPS8 signaling adaptor L1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311146	Eps8l1	EPS8 signaling adaptor L1	gene	DOID:3275	thymoma		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311146	Eps8l1	EPS8 signaling adaptor L1	gene	DOID:4362	cervical cancer		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311146	Eps8l1	EPS8 signaling adaptor L1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322450	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311146	Eps8l1	EPS8 signaling adaptor L1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311146	Eps8l1	EPS8 signaling adaptor L1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311146	Eps8l1	EPS8 signaling adaptor L1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1311146	Eps8l1	EPS8 signaling adaptor L1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311146	Eps8l1	EPS8 signaling adaptor L1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311146	Eps8l1	EPS8 signaling adaptor L1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311147	Mdp1	magnesium-dependent phosphatase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1601722	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1311148	Cpne1	copine 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311148	Cpne1	copine 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311148	Cpne1	copine 1	gene	DOID:1115	sarcoma		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311148	Cpne1	copine 1	gene	DOID:1909	melanoma		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311148	Cpne1	copine 1	gene	DOID:3070	high grade glioma		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311148	Cpne1	copine 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311148	Cpne1	copine 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311148	Cpne1	copine 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311148	Cpne1	copine 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311148	Cpne1	copine 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311148	Cpne1	copine 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311148	Cpne1	copine 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311149	Coq6	coenzyme Q6 monooxygenase	gene	DOID:0070243	primary coenzyme Q10 deficiency 6		ISO	RGD:1322454	D	RGD:7240710	20140911	OMIM			
1311149	Coq6	coenzyme Q6 monooxygenase	gene	DOID:0070243	primary coenzyme Q10 deficiency 6		ISO	RGD:1322454	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: COENZYME Q10 DEFICIENCY, PRIMARY, 6 | ClinVar Annotator: match by term: COQ6-related condition | ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness	PMID:25741868|PMID:28117207|PMID:28492532|PMID:32604935|PMID:38703036
1311149	Coq6	coenzyme Q6 monooxygenase	gene	DOID:1115	sarcoma		ISO	RGD:1322454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311149	Coq6	coenzyme Q6 monooxygenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311149	Coq6	coenzyme Q6 monooxygenase	gene	DOID:4362	cervical cancer		ISO	RGD:1322454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311149	Coq6	coenzyme Q6 monooxygenase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311149	Coq6	coenzyme Q6 monooxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311149	Coq6	coenzyme Q6 monooxygenase	gene	DOID:630	genetic disease		ISO	RGD:1322454	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1311149	Coq6	coenzyme Q6 monooxygenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311151	Ccnt1	cyclin T1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311151	Ccnt1	cyclin T1	gene	DOID:0060058	lymphoma		ISO	RGD:1322457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311151	Ccnt1	cyclin T1	gene	DOID:3275	thymoma		ISO	RGD:1322457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311151	Ccnt1	cyclin T1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311151	Ccnt1	cyclin T1	gene	DOID:6000	congestive heart failure		ISO	RGD:1322458	D	RGD:1556509|PMID:15297879	20150213	RGD			
1311151	Ccnt1	cyclin T1	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:9698426|PMID:20828602	20150213	RGD		mRNA,protein:decreased expression:liver:	
1311151	Ccnt1	cyclin T1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311153	Ankrd45	ankyrin repeat domain 45	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311153	Ankrd45	ankyrin repeat domain 45	gene	DOID:1909	melanoma		ISO	RGD:1606657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311153	Ankrd45	ankyrin repeat domain 45	gene	DOID:3275	thymoma		ISO	RGD:1606657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311153	Ankrd45	ankyrin repeat domain 45	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311154	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311154	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:0090033	myoclonic dystonia		ISO	RGD:1353287	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1311154	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:0090036	myoclonic dystonia 26		ISO	RGD:1353287	D	RGD:7240710	20170308	OMIM			
1311154	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:0090036	myoclonic dystonia 26		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYSTONIA 26, MYOCLONIC | ClinVar Annotator: match by term: Dystonia 26, myoclonic | ClinVar Annotator: match by term: KCTD17-related condition | ClinVar Annotator: match by term: Myoclonic dystonia 26	PMID:17576681|PMID:25741868|PMID:25983243|PMID:28492532|PMID:30579817|PMID:30642807|PMID:9536098
1311154	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:10534	stomach cancer		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311154	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:1115	sarcoma		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311154	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:1324	lung cancer		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311154	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:1909	melanoma		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311154	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:3275	thymoma		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311154	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311154	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:630	genetic disease		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311154	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311154	Kctd17	potassium channel tetramerization domain containing 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311155	Il33	interleukin 33	gene	DOID:0050256	angiostrongyliasis		ISO	RGD:1322462	D	RGD:40400713|PMID:23148283	20201103	RGD		protein:increased expression:brain:	
1311155	Il33	interleukin 33	gene	DOID:0050256	angiostrongyliasis		ISO	RGD:1322462	D	RGD:40400715|PMID:24076431	20201103	RGD			
1311155	Il33	interleukin 33	gene	DOID:0050589	inflammatory bowel disease	severity	ISO	RGD:1322461	D	RGD:39938952|PMID:24491821	20201015	RGD			
1311155	Il33	interleukin 33	gene	DOID:0050848	obstructive sleep apnea	severity	ISO	RGD:1322461	D	RGD:629122708|PMID:28960823	20251216	RGD		protein:increased expression:blood serum	
1311155	Il33	interleukin 33	gene	DOID:0050865	tongue squamous cell carcinoma	disease_progression	ISO	RGD:1322461	D	RGD:39938972|PMID:25193287	20201016	RGD			
1311155	Il33	interleukin 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311155	Il33	interleukin 33	gene	DOID:0060180	colitis	severity	ISO	RGD:1322461	D	RGD:39939041|PMID:28423665	20201023	RGD			
1311155	Il33	interleukin 33	gene	DOID:0060180	colitis	severity	ISO	RGD:1322462	D	RGD:40400694|PMID:23172891	20201030	RGD			
1311155	Il33	interleukin 33	gene	DOID:0060185	Clostridium difficile colitis	severity	ISO	RGD:1322462	D	RGD:40400894|PMID:32156806	20201105	RGD			
1311155	Il33	interleukin 33	gene	DOID:0060185	Clostridium difficile colitis	treatment	ISO	RGD:1322462	D	RGD:40400894|PMID:32156806	20201105	RGD			
1311155	Il33	interleukin 33	gene	DOID:0060496	respiratory allergy	treatment	ISO	RGD:1322462	D	RGD:40400692|PMID:25424936	20201030	RGD			
1311155	Il33	interleukin 33	gene	DOID:0110922	familial hemophagocytic lymphohistiocytosis 2		ISO	RGD:1322462	D	RGD:11343232|PMID:26518437	20201030	RGD		associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen:	
1311155	Il33	interleukin 33	gene	DOID:10230	aortic atherosclerosis		ISO	RGD:1322461	D	RGD:267986209|PMID:31043075	20230418	RGD		protein:increased expression:artery:	
1311155	Il33	interleukin 33	gene	DOID:10283	prostate cancer		ISO	RGD:1322461	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1311155	Il33	interleukin 33	gene	DOID:10283	prostate cancer		ISO	RGD:1322461	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1311155	Il33	interleukin 33	gene	DOID:10459	common cold		ISO	RGD:1322461	D	RGD:38596342|PMID:28471975	20201023	RGD		protein:increased expression:nasal mucus	
1311155	Il33	interleukin 33	gene	DOID:106	pleural tuberculosis		ISO	RGD:1322461	D	RGD:39939042|PMID:23301222	20201023	RGD		protein:increased expression:pleural fluid:	
1311155	Il33	interleukin 33	gene	DOID:10652	Alzheimer's disease		ISS	RGD:1322462	D	RGD:13592920	20190418	MouseDO		OMIM:608907	
1311155	Il33	interleukin 33	gene	DOID:1115	sarcoma		ISO	RGD:1322461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311155	Il33	interleukin 33	gene	DOID:11266	Hantavirus hemorrhagic fever with renal syndrome	severity	ISO	RGD:1322461	D	RGD:40400702|PMID:25658420	20201102	RGD			
1311155	Il33	interleukin 33	gene	DOID:11339	pneumocystosis	treatment	ISO	RGD:1322462	D	RGD:40400892|PMID:21220696	20201105	RGD			
1311155	Il33	interleukin 33	gene	DOID:11396	pulmonary edema		ISO	RGD:1322461	D	RGD:11342349|PMID:26437894	20201102	RGD		associated with Plasmodium falciparum malaria;protein:increased expression:lung	
1311155	Il33	interleukin 33	gene	DOID:11573	listeriosis	treatment	ISO	RGD:1322462	D	RGD:40400693|PMID:25577440	20201030	RGD			
1311155	Il33	interleukin 33	gene	DOID:12053	cryptococcosis		ISO	RGD:1322462	D	RGD:38549345|PMID:27596810	20200827	RGD		mRNA:increased expression:lung (mouse)	
1311155	Il33	interleukin 33	gene	DOID:12205	dengue disease	severity	ISO	RGD:1322462	D	RGD:39938828|PMID:30098206	20201013	RGD			
1311155	Il33	interleukin 33	gene	DOID:12365	malaria		ISO	RGD:1322462	D	RGD:39938859|PMID:28359899	20201014	RGD		protein:increased expression:serum:	
1311155	Il33	interleukin 33	gene	DOID:12662	paracoccidioidomycosis	treatment	ISO	RGD:1322461	D	RGD:39938858|PMID:28992214	20201014	RGD			
1311155	Il33	interleukin 33	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1322462	D	RGD:11342984|PMID:26044350	20201104	RGD			
1311155	Il33	interleukin 33	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1322462	D	RGD:39939029|PMID:28771101	20201021	RGD			
1311155	Il33	interleukin 33	gene	DOID:13189	gout		ISO	RGD:1322461	D	RGD:40400717|PMID:30863362	20201103	RGD			
1311155	Il33	interleukin 33	gene	DOID:13767	clonorchiasis		ISO	RGD:1322461	D	RGD:39939001|PMID:26944417	20201019	RGD		protein:increased expression:serum:	
1311155	Il33	interleukin 33	gene	DOID:13767	clonorchiasis		ISO	RGD:1322462	D	RGD:39939001|PMID:26944417	20201019	RGD		mRNA,protein:increased expression:liver, serum:	
1311155	Il33	interleukin 33	gene	DOID:1395	schistosomiasis		ISO	RGD:1322462	D	RGD:39938854|PMID:29554131	20201014	RGD		mRNA,protein:increased expression:liver	
1311155	Il33	interleukin 33	gene	DOID:14069	cerebral malaria		ISO	RGD:1322462	D	RGD:40400741|PMID:25682948	20201104	RGD		protein:increased expression:brain	
1311155	Il33	interleukin 33	gene	DOID:14069	cerebral malaria	treatment	ISO	RGD:1322462	D	RGD:39938955|PMID:25659095	20201015	RGD			
1311155	Il33	interleukin 33	gene	DOID:1508	candidiasis	treatment	ISO	RGD:1322461	D	RGD:40400896|PMID:22661085	20201105	RGD			
1311155	Il33	interleukin 33	gene	DOID:219	colon cancer	treatment	IEP		D	RGD:39939040|PMID:31407335	20201023	RGD		associated with colitis;	
1311155	Il33	interleukin 33	gene	DOID:2841	asthma		ISO	RGD:1322461	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:19198610|PMID:21804549|PMID:24241537|PMID:27472835|PMID:29067999
1311155	Il33	interleukin 33	gene	DOID:2841	asthma		ISO	RGD:1322461	D	RGD:632517872|PMID:24960440	20260130	RGD		protein:increased expression:blood serum	
1311155	Il33	interleukin 33	gene	DOID:2841	asthma	severity	ISO	RGD:1322461	D	RGD:39938968|PMID:25746970	20201016	RGD		associated with fungal infectious disease	
1311155	Il33	interleukin 33	gene	DOID:2841	asthma	treatment	ISO	RGD:1322462	D	RGD:39939002|PMID:28947081	20201019	RGD		associated with viral pneumonia;	
1311155	Il33	interleukin 33	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1322462	D	RGD:39938965|PMID:28128217	20201016	RGD			
1311155	Il33	interleukin 33	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1322462	D	RGD:40400740|PMID:30952808	20201104	RGD		mRNA,protein:increased expression:lung:	
1311155	Il33	interleukin 33	gene	DOID:3310	atopic dermatitis		ISO	RGD:1322461	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
1311155	Il33	interleukin 33	gene	DOID:399	tuberculosis		ISO	RGD:1322461	D	RGD:40400701|PMID:25755791	20201102	RGD		associated with Pleural Effusion;protein:increased expression:pleural biopsy	
1311155	Il33	interleukin 33	gene	DOID:5041	esophageal cancer		ISO	RGD:1322461	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311155	Il33	interleukin 33	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:1322461	D	RGD:40400690|PMID:31053540	20201030	RGD			
1311155	Il33	interleukin 33	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:1322462	D	RGD:39938956|PMID:31200771	20201015	RGD		associated with Schistosomiasis Japonica	
1311155	Il33	interleukin 33	gene	DOID:552	pneumonia		ISO	RGD:1322461	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:24453940
1311155	Il33	interleukin 33	gene	DOID:557	kidney disease		ISO	RGD:1322461	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21949094
1311155	Il33	interleukin 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311155	Il33	interleukin 33	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1322461	D	RGD:629122707|PMID:29921553	20251216	RGD		associated with bronchiectasis;protein:increased expression:lung	
1311155	Il33	interleukin 33	gene	DOID:646	viral encephalitis		ISO	RGD:1322462	D	RGD:39457934|PMID:27334012	20201008	RGD		mRNA,protein:increased expression:brain,F4/80+ cell	
1311155	Il33	interleukin 33	gene	DOID:750	peptic ulcer disease	susceptibility	ISO	RGD:1322461	D	RGD:39938849|PMID:31491552	20201014	RGD		associated with Helicobacter Infections;DNA:SNP: : rs1929992(human)	
1311155	Il33	interleukin 33	gene	DOID:824	periodontitis		ISO	RGD:1322462	D	RGD:39938855|PMID:25808546	20201014	RGD		associated with Gram-Negative Bacterial Infections;mRNA:increased expression:gingvia	
1311155	Il33	interleukin 33	gene	DOID:824	periodontitis	severity	ISO	RGD:1322462	D	RGD:39938855|PMID:25808546	20201014	RGD		associated with Gram-Negative Bacterial Infections;	
1311155	Il33	interleukin 33	gene	DOID:8469	influenza		ISO	RGD:1322462	D	RGD:40400699|PMID:28401938	20201102	RGD			
1311155	Il33	interleukin 33	gene	DOID:8566	herpes simplex		ISO	RGD:1322461	D	RGD:39939003|PMID:26872602	20201019	RGD		protein:increased expression:skin	
1311155	Il33	interleukin 33	gene	DOID:8566	herpes simplex		ISO	RGD:1322462	D	RGD:39939003|PMID:26872602	20201019	RGD		protein:increased expression:skin	
1311155	Il33	interleukin 33	gene	DOID:8577	ulcerative colitis		ISO	RGD:1322461	D	RGD:39938951|PMID:25112700	20201015	RGD		mRNA:increased expression:sigmoid colon	
1311155	Il33	interleukin 33	gene	DOID:8577	ulcerative colitis	severity	ISO	RGD:1322461	D	RGD:40813742|PMID:21037074	20201109	RGD			
1311155	Il33	interleukin 33	gene	DOID:8577	ulcerative colitis	treatment	ISO	RGD:1322462	D	RGD:39938966|PMID:28802904	20201016	RGD			
1311155	Il33	interleukin 33	gene	DOID:883	parasitic helminthiasis infectious disease	treatment	ISO	RGD:1322462	D	RGD:39939026|PMID:25912172	20201021	RGD			
1311155	Il33	interleukin 33	gene	DOID:9000099	Experimental Colitis	severity	ISO	RGD:1322462	D	RGD:39938951|PMID:25112700	20201015	RGD			
1311155	Il33	interleukin 33	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:1322462	D	RGD:39939041|PMID:28423665	20201023	RGD			
1311155	Il33	interleukin 33	gene	DOID:9000469	Viral Myocarditis	treatment	ISO	RGD:1322462	D	RGD:40400900|PMID:28041873	20201105	RGD			
1311155	Il33	interleukin 33	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:1322461	D	RGD:39938855|PMID:25808546	20201014	RGD		mRNA,protein:increased expression:gingiva	
1311155	Il33	interleukin 33	gene	DOID:9001049	Staphylococcal Pneumonia		ISO	RGD:1322462	D	RGD:40400699|PMID:28401938	20201102	RGD		mRNA:increased expression:lung:	
1311155	Il33	interleukin 33	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322461	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311155	Il33	interleukin 33	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1322462	D	RGD:629122707|PMID:29921553	20251216	RGD		protein:increased expression:lung	
1311155	Il33	interleukin 33	gene	DOID:9002211	Hyperalgesia		IMP		D	RGD:40400909|PMID:29329586	20201105	RGD			
1311155	Il33	interleukin 33	gene	DOID:9002433	Schistosomiasis Japonica		ISO	RGD:1322461	D	RGD:39939027|PMID:22590860	20201021	RGD		protein:increased expression:serum	
1311155	Il33	interleukin 33	gene	DOID:9002433	Schistosomiasis Japonica	severity	ISO	RGD:1322462	D	RGD:40400890|PMID:25944738	20201105	RGD			
1311155	Il33	interleukin 33	gene	DOID:9002433	Schistosomiasis Japonica	treatment	ISO	RGD:1322462	D	RGD:40400890|PMID:25944738	20201105	RGD			
1311155	Il33	interleukin 33	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1322461	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20472598
1311155	Il33	interleukin 33	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:1322461	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22967010
1311155	Il33	interleukin 33	gene	DOID:9002992	Nematode Infections		ISO	RGD:1322462	D	RGD:40400742|PMID:22331917	20201104	RGD		associated with Nippostrongylus brasiliensis infection; mRNA:increased expression:lung	
1311155	Il33	interleukin 33	gene	DOID:9003369	Strongylida Infections		ISO	RGD:1322462	D	RGD:40400742|PMID:22331917	20201104	RGD		mRNA:increased expression:lung	
1311155	Il33	interleukin 33	gene	DOID:9003603	Hemolysis		ISO	RGD:1322461	D	RGD:40400691|PMID:26107423	20201030	RGD		associated with sickle cell anemia;protein:increased expression:plasma:	
1311155	Il33	interleukin 33	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1322462	D	RGD:40813740|PMID:17492053	20201109	RGD		protein:increased expression:cardiomyocyte	
1311155	Il33	interleukin 33	gene	DOID:9003936	Cardiomegaly	treatment	IDA		D	RGD:40813740|PMID:17492053	20201109	RGD			
1311155	Il33	interleukin 33	gene	DOID:9004036	Superinfection		ISO	RGD:1322462	D	RGD:40400699|PMID:28401938	20201102	RGD		influenza and Pneumonia, Staphylococcal	
1311155	Il33	interleukin 33	gene	DOID:9004484	Sepsis		ISO	RGD:1322461	D	RGD:40400895|PMID:29935165	20201105	RGD		protein:increased expression:plasma:	
1311155	Il33	interleukin 33	gene	DOID:9004484	Sepsis		ISO	RGD:1322462	D	RGD:39939028|PMID:29672927	20201022	RGD		protein:increased expression:plasma,lung	
1311155	Il33	interleukin 33	gene	DOID:9004484	Sepsis		ISO	RGD:1322462	D	RGD:40400895|PMID:29935165	20201105	RGD		protein:increased expression:plasma, peritoneal fluid:	
1311155	Il33	interleukin 33	gene	DOID:9004484	Sepsis	severity	ISO	RGD:1322461	D	RGD:40400739|PMID:25665614	20201104	RGD			
1311155	Il33	interleukin 33	gene	DOID:9004531	Cardiovirus Infections		ISO	RGD:1322462	D	RGD:40400716|PMID:18552204	20201103	RGD		mRNA:increased expression:brain:	
1311155	Il33	interleukin 33	gene	DOID:9005724	Fungal Lung Diseases		ISO	RGD:1322462	D	RGD:39938968|PMID:25746970	20201016	RGD		protein:increased expression:lung	
1311155	Il33	interleukin 33	gene	DOID:9005966	Staphylococcal Skin Infections		ISO	RGD:1322462	D	RGD:40400893|PMID:23892028	20201105	RGD		mRNA,protein:increased expression:skin	
1311155	Il33	interleukin 33	gene	DOID:9005966	Staphylococcal Skin Infections	treatment	ISO	RGD:1322462	D	RGD:40400893|PMID:23892028	20201105	RGD			
1311155	Il33	interleukin 33	gene	DOID:9006086	Intervertebral Disc Displacement		IEP		D	RGD:40400909|PMID:29329586	20201105	RGD		protein:increased expression:spinal cord:	
1311155	Il33	interleukin 33	gene	DOID:9006535	Hookworm Infections		ISO	RGD:1322462	D	RGD:39938827|PMID:22329990	20201013	RGD		mRNA,protein:increased expression:Bronchoalveolar lavage, epithelium, macrophage	
1311155	Il33	interleukin 33	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1322461	D	RGD:38596342|PMID:28471975	20201023	RGD		protein:increased expression:nasal mucus	
1311155	Il33	interleukin 33	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:1322462	D	RGD:40400699|PMID:28401938	20201102	RGD		mRNA:increased expression:lung:	
1311155	Il33	interleukin 33	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1322461	D	RGD:39939030|PMID:31320834	20201021	RGD		mRNA:increased expression:stomach	
1311155	Il33	interleukin 33	gene	DOID:9008114	Helicobacter Infections	severity	ISO	RGD:1322461	D	RGD:39938849|PMID:31491552	20201014	RGD		associated with Helicobacter Infections;DNA:SNP: : rs1929992(human)	
1311155	Il33	interleukin 33	gene	DOID:9008163	Chronic Hepatitis B	severity	ISO	RGD:1322461	D	RGD:39457933|PMID:27180842	20201008	RGD			
1311155	Il33	interleukin 33	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1322462	D	RGD:39938954|PMID:25714983	20201015	RGD			
1311155	Il33	interleukin 33	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1311155	Il33	interleukin 33	gene	DOID:9351	diabetes mellitus		IEP		D	RGD:40400904|PMID:28412870	20201105	RGD		protein:increased expression:serum,ovary	
1311155	Il33	interleukin 33	gene	DOID:9408	acute myocardial infarction		IEP		D	RGD:40813741|PMID:24837094	20201109	RGD			
1311155	Il33	interleukin 33	gene	DOID:9415	allergic asthma		ISO	RGD:1322461	D	RGD:629122693|PMID:28266165	20251215	RGD		DNA:SNP: :rs7037276	
1311155	Il33	interleukin 33	gene	DOID:9778	irritable bowel syndrome	severity	ISO	RGD:1322461	D	RGD:40400694|PMID:23172891	20201030	RGD			
1311157	Cilp2	cartilage intermediate layer protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311157	Cilp2	cartilage intermediate layer protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311157	Cilp2	cartilage intermediate layer protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311157	Cilp2	cartilage intermediate layer protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:0050871	fibroma		IMP		D	RGD:9586716|PMID:18456653	20141002	RGD			
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:0070297	primary microcephaly		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25561519|PMID:25741868|PMID:27748960
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:0080898	cerebellofaciodental syndrome		ISO	RGD:1322467	D	RGD:7240710	20150304	OMIM			
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:0080898	cerebellofaciodental syndrome		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRF1-related condition | ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome	PMID:25561519|PMID:25741868|PMID:27748960
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322467	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25561519|PMID:25741868|PMID:27748960
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:10907	microcephaly		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25561519|PMID:25741868|PMID:27748960
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:1115	sarcoma		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:11383	cryptorchidism		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25561519|PMID:25741868|PMID:27748960
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:1324	lung cancer		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:1909	melanoma		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:630	genetic disease		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:33645901
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:9003098	Taurodontism		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Taurodontism	PMID:25561519|PMID:25741868|PMID:27748960
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1322468	D	RGD:9686423|PMID:18420946	20150206	RGD			
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25561519|PMID:25741868
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:9007661	Dwarfism		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature | ClinVar Annotator: match by term: short stature	PMID:25561519|PMID:25741868|PMID:27748960|PMID:28492532
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322467	D	RGD:11554173	20200702	CTD		CTD Direct Evidence: marker/mechanism	PMID:32198086
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311158	Brf1	BRF1 general transcription factor IIIB subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1322467	D	RGD:8554872	20210810	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322469	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1322469	D	RGD:2315611|PMID:7624992	20100105	RGD		mRNA:increased expression:prostate gland	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:10763	hypertension		IEP		D	RGD:5509789|PMID:16445702	20091023	RGD		mRNA:decreased expression:medulla oblongata	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322469	D	RGD:2315608|PMID:14532840	20100105	RGD		protein:increased expression:urinary bladder	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1322469	D	RGD:2315607|PMID:19282568	20100105	RGD		mRNA:increased expression:breast	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:37	skin disease		ISO	RGD:1322469	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22533443
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1322469	D	RGD:2315610|PMID:14654968	20100105	RGD		protein:increased expression:kidney	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1322469	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:6000	congestive heart failure		IEP		D	RGD:5509787|PMID:15623566	20111103	RGD			
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1322469	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:8577	ulcerative colitis		ISO	RGD:1322469	D	RGD:5509621|PMID:7679252	20111101	RGD		protein:increased expression:large intestine epithelium	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:8778	Crohn's disease		ISO	RGD:1322469	D	RGD:5509621|PMID:7679252	20111101	RGD		protein:increased expression:large intestine epithelium	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:8893	psoriasis		ISO	RGD:1322469	D	RGD:5509788|PMID:8304420	20111103	RGD		protein:increased expression:keratinocyte	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1322469	D	RGD:5509597|PMID:20554417	20111031	RGD		mRNA:decreased expression:nasal cavity epithelium	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:9001542	Albuminuria		ISO	RGD:1322469	D	RGD:2313875|PMID:18640486	20091023	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human)	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1322469	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12582831
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:9003730	Chemical Burns		ISO	RGD:1322469	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22533443
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:9004009	Reperfusion Injury		IEP		D	RGD:5509617|PMID:15518705	20111101	RGD			
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:1322469	D	RGD:2315609|PMID:14767568	20100105	RGD		protein:increased expression:testis	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1322470	D	RGD:2313872|PMID:7511046	20091023	RGD			
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:9006182	Carotid Artery Injuries		IEP		D	RGD:5509614|PMID:16118253	20111101	RGD			
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:9007482	Bone Metastasis		ISO	RGD:1322469	D	RGD:1578303|PMID:14669797	19990101	RGD		associated with Prostatic Neoplasms;	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1322469	D	RGD:2313877|PMID:9500559	20091023	RGD		protein:decreased activity:platelet (human)	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:9970	obesity		IEP		D	RGD:5509594|PMID:20978234	20111031	RGD		mRNA:increased expression:adipose tissue, fat cell	
1311159	Alox12	arachidonate 12-lipoxygenase, 12S type	gene	DOID:9970	obesity		ISO	RGD:1322470	D	RGD:5509628|PMID:18780776	20111101	RGD			
1311160	Nek7	NIMA-related kinase 7	gene	DOID:0060058	lymphoma		ISO	RGD:1322471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311160	Nek7	NIMA-related kinase 7	gene	DOID:1115	sarcoma		ISO	RGD:1322471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311160	Nek7	NIMA-related kinase 7	gene	DOID:1324	lung cancer		ISO	RGD:1322471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311160	Nek7	NIMA-related kinase 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311160	Nek7	NIMA-related kinase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1322471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311160	Nek7	NIMA-related kinase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311160	Nek7	NIMA-related kinase 7	gene	DOID:9004657	Weight Gain		ISO	RGD:1322471	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1311161	Ufsp2	UFM1-specific peptidase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311161	Ufsp2	UFM1-specific peptidase 2	gene	DOID:0070392	developmental and epileptic encephalopathy 106		ISO	RGD:1605068	D	RGD:7240710	20220921	OMIM			
1311161	Ufsp2	UFM1-specific peptidase 2	gene	DOID:0070392	developmental and epileptic encephalopathy 106		ISO	RGD:1605068	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 106	PMID:25741868
1311161	Ufsp2	UFM1-specific peptidase 2	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1605068	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:25741868|PMID:28492532|PMID:33473208
1311161	Ufsp2	UFM1-specific peptidase 2	gene	DOID:0111367	Beukes hip dysplasia		ISO	RGD:1605068	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311161	Ufsp2	UFM1-specific peptidase 2	gene	DOID:0111367	Beukes hip dysplasia		ISO	RGD:1605068	D	RGD:7240710	20150805	OMIM			
1311161	Ufsp2	UFM1-specific peptidase 2	gene	DOID:0111367	Beukes hip dysplasia		ISO	RGD:1605068	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hip dysplasia, Beukes type	
1311161	Ufsp2	UFM1-specific peptidase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311161	Ufsp2	UFM1-specific peptidase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311161	Ufsp2	UFM1-specific peptidase 2	gene	DOID:9002016	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE		ISO	RGD:1605068	D	RGD:7240710	20190724	OMIM			
1311161	Ufsp2	UFM1-specific peptidase 2	gene	DOID:9002016	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE		ISO	RGD:1605068	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type	PMID:21228277|PMID:25741868|PMID:28892125
1311161	Ufsp2	UFM1-specific peptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311161	Ufsp2	UFM1-specific peptidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311162	Fam20b	FAM20B, glycosaminoglycan xylosylkinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311162	Fam20b	FAM20B, glycosaminoglycan xylosylkinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311162	Fam20b	FAM20B, glycosaminoglycan xylosylkinase	gene	DOID:10534	stomach cancer		ISO	RGD:1322474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311162	Fam20b	FAM20B, glycosaminoglycan xylosylkinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311162	Fam20b	FAM20B, glycosaminoglycan xylosylkinase	gene	DOID:4362	cervical cancer		ISO	RGD:1322474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311162	Fam20b	FAM20B, glycosaminoglycan xylosylkinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311162	Fam20b	FAM20B, glycosaminoglycan xylosylkinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311163	Cdc14b	cell division cycle 14B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311163	Cdc14b	cell division cycle 14B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311163	Cdc14b	cell division cycle 14B	gene	DOID:1909	melanoma		ISO	RGD:1322476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311163	Cdc14b	cell division cycle 14B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311163	Cdc14b	cell division cycle 14B	gene	DOID:3275	thymoma		ISO	RGD:1322476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311163	Cdc14b	cell division cycle 14B	gene	DOID:4450	renal cell carcinoma	severity	ISO	RGD:1322476	D	RGD:10059341|PMID:24619757	20150813	RGD		mRNA:decreased expression:kidney:	
1311163	Cdc14b	cell division cycle 14B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311163	Cdc14b	cell division cycle 14B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311163	Cdc14b	cell division cycle 14B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311163	Cdc14b	cell division cycle 14B	gene	DOID:9002644	Premature Aging		ISO	RGD:1322477	D	RGD:10059338|PMID:21262768	20150813	RGD			
1311163	Cdc14b	cell division cycle 14B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311163	Cdc14b	cell division cycle 14B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311164	Ferry3	FERRY endosomal RAB5 effector complex subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311164	Ferry3	FERRY endosomal RAB5 effector complex subunit 3	gene	DOID:0081227	autosomal recessive intellectual developmental disorder 66		ISO	RGD:1322478	D	RGD:7240710	20190315	OMIM			
1311164	Ferry3	FERRY endosomal RAB5 effector complex subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311164	Ferry3	FERRY endosomal RAB5 effector complex subunit 3	gene	DOID:1059	intellectual disability		ISO	RGD:1322478	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28097321
1311164	Ferry3	FERRY endosomal RAB5 effector complex subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1322478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311164	Ferry3	FERRY endosomal RAB5 effector complex subunit 3	gene	DOID:12849	autistic disorder		ISO	RGD:1322478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28097321
1311164	Ferry3	FERRY endosomal RAB5 effector complex subunit 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311164	Ferry3	FERRY endosomal RAB5 effector complex subunit 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311164	Ferry3	FERRY endosomal RAB5 effector complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311164	Ferry3	FERRY endosomal RAB5 effector complex subunit 3	gene	DOID:630	genetic disease		ISO	RGD:1322478	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311164	Ferry3	FERRY endosomal RAB5 effector complex subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311164	Ferry3	FERRY endosomal RAB5 effector complex subunit 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322478	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1311164	Ferry3	FERRY endosomal RAB5 effector complex subunit 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1311164	Ferry3	FERRY endosomal RAB5 effector complex subunit 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1322478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311165	Dhx35	DEAH-box helicase 35	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311165	Dhx35	DEAH-box helicase 35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311165	Dhx35	DEAH-box helicase 35	gene	DOID:10534	stomach cancer		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311165	Dhx35	DEAH-box helicase 35	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311165	Dhx35	DEAH-box helicase 35	gene	DOID:1115	sarcoma		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311165	Dhx35	DEAH-box helicase 35	gene	DOID:1324	lung cancer		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: MAP3K8-related condition	
1311165	Dhx35	DEAH-box helicase 35	gene	DOID:4362	cervical cancer		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311165	Dhx35	DEAH-box helicase 35	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311165	Dhx35	DEAH-box helicase 35	gene	DOID:5041	esophageal cancer		ISO	RGD:1322480	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311165	Dhx35	DEAH-box helicase 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311165	Dhx35	DEAH-box helicase 35	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311165	Dhx35	DEAH-box helicase 35	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311165	Dhx35	DEAH-box helicase 35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311165	Dhx35	DEAH-box helicase 35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311167	Tspan17	tetraspanin 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311167	Tspan17	tetraspanin 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346680	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311167	Tspan17	tetraspanin 17	gene	DOID:1115	sarcoma		ISO	RGD:1346680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311167	Tspan17	tetraspanin 17	gene	DOID:1324	lung cancer		ISO	RGD:1346680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311167	Tspan17	tetraspanin 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311167	Tspan17	tetraspanin 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311167	Tspan17	tetraspanin 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311167	Tspan17	tetraspanin 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311167	Tspan17	tetraspanin 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311168	Gemin6	gem (nuclear organelle) associated protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311168	Gemin6	gem (nuclear organelle) associated protein 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311168	Gemin6	gem (nuclear organelle) associated protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311168	Gemin6	gem (nuclear organelle) associated protein 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311170	Aktip	AKT interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311170	Aktip	AKT interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311170	Aktip	AKT interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1322487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311170	Aktip	AKT interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1322487	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311170	Aktip	AKT interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322487	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311170	Aktip	AKT interacting protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322487	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311172	Pate4	prostate and testis expressed 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311173	Dido1	death inducer-obliterator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311173	Dido1	death inducer-obliterator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311173	Dido1	death inducer-obliterator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311173	Dido1	death inducer-obliterator 1	gene	DOID:1324	lung cancer		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311173	Dido1	death inducer-obliterator 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1322490	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1311173	Dido1	death inducer-obliterator 1	gene	DOID:1909	melanoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311173	Dido1	death inducer-obliterator 1	gene	DOID:3275	thymoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311173	Dido1	death inducer-obliterator 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1322490	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:30431698
1311173	Dido1	death inducer-obliterator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311173	Dido1	death inducer-obliterator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322490	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311173	Dido1	death inducer-obliterator 1	gene	DOID:4972	myelodysplastic/myeloproliferative neoplasm		ISS	RGD:30309588	D	RGD:13592920	20200702	MouseDO			
1311173	Dido1	death inducer-obliterator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322490	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311173	Dido1	death inducer-obliterator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311173	Dido1	death inducer-obliterator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311173	Dido1	death inducer-obliterator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311173	Dido1	death inducer-obliterator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311173	Dido1	death inducer-obliterator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311174	Zic2	Zic family zinc finger 2	gene	DOID:0060249	scoliosis		ISO	RGD:1322491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:11285244|PMID:15590697|PMID:19955556|PMID:25741868|PMID:28492532|PMID:9771712
1311174	Zic2	Zic family zinc finger 2	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1322491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:11285244|PMID:15590697|PMID:19955556|PMID:25741868|PMID:28492532|PMID:9771712
1311174	Zic2	Zic family zinc finger 2	gene	DOID:0080074	neural tube defect		ISO	RGD:1322491	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15136147
1311174	Zic2	Zic family zinc finger 2	gene	DOID:0080074	neural tube defect		ISO	RGD:1322491	D	RGD:1331525|PMID:15118671	19990101	GAD			
1311174	Zic2	Zic family zinc finger 2	gene	DOID:0110878	holoprosencephaly 5		ISO	RGD:1322491	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311174	Zic2	Zic family zinc finger 2	gene	DOID:0110878	holoprosencephaly 5		ISO	RGD:1322491	D	RGD:7240710	20130425	OMIM			
1311174	Zic2	Zic family zinc finger 2	gene	DOID:0110878	holoprosencephaly 5		ISO	RGD:1322491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HOLOPROSENCEPHALY 5 | ClinVar Annotator: match by term: Holoprosencephaly 5 | ClinVar Annotator: match by term: Holoprosencephaly-5 | ClinVar Annotator: match by term: ZIC2-related condition	PMID:11285244|PMID:15221788|PMID:15590697|PMID:17576681|PMID:19177455|PMID:19955556|PMID:21940735|PMID:22847929|PMID:25741868|PMID:28492532|PMID:29442327|PMID:29992659|PMID:32022405|PMID:37589029|PMID:9536098|PMID:9771712
1311174	Zic2	Zic family zinc finger 2	gene	DOID:0110878	holoprosencephaly 5		ISS	RGD:1322492	D	RGD:13592920	20230718	MouseDO		OMIM:609637	
1311174	Zic2	Zic family zinc finger 2	gene	DOID:1059	intellectual disability		ISO	RGD:1322491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:11285244|PMID:15590697|PMID:19955556|PMID:25741868|PMID:28492532|PMID:9771712
1311174	Zic2	Zic family zinc finger 2	gene	DOID:10907	microcephaly		ISO	RGD:1322491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:11285244|PMID:15590697|PMID:19955556|PMID:25741868|PMID:28492532|PMID:9771712
1311174	Zic2	Zic family zinc finger 2	gene	DOID:1561	cognitive disorder		ISO	RGD:1322492	D	RGD:11561947|PMID:22355535	20161114	RGD			
1311174	Zic2	Zic family zinc finger 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311174	Zic2	Zic family zinc finger 2	gene	DOID:4621	holoprosencephaly		ISO	RGD:1322491	D	RGD:11561949|PMID:22847929	20161114	RGD		DNA:deletion, duplication, frameshift, transition mutations:cds,intron:	
1311174	Zic2	Zic family zinc finger 2	gene	DOID:4621	holoprosencephaly		ISO	RGD:1322491	D	RGD:11561954|PMID:9771712	20161114	RGD		DNA:insertion,deletion mutations:cds:	
1311174	Zic2	Zic family zinc finger 2	gene	DOID:4621	holoprosencephaly		ISO	RGD:1322491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence	PMID:11285244|PMID:15590697|PMID:19955556|PMID:25741868|PMID:28492532|PMID:9771712
1311174	Zic2	Zic family zinc finger 2	gene	DOID:4621	holoprosencephaly		ISO	RGD:1322492	D	RGD:11561948|PMID:18617531	20161114	RGD			
1311174	Zic2	Zic family zinc finger 2	gene	DOID:5419	schizophrenia		ISS	RGD:1322492	D	RGD:13592920	20180518	MouseDO		OMIM:181500	
1311174	Zic2	Zic family zinc finger 2	gene	DOID:630	genetic disease		ISO	RGD:1322491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15221788|PMID:15590697|PMID:25741868|PMID:25954003|PMID:27466203|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29992659|PMID:29992973|PMID:9771712
1311174	Zic2	Zic family zinc finger 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322491	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1311174	Zic2	Zic family zinc finger 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1322491	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17173048
1311174	Zic2	Zic family zinc finger 2	gene	DOID:9005253	Hypernatremia		ISO	RGD:1322491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypernatremia	PMID:22859937
1311174	Zic2	Zic family zinc finger 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1322491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:11285244|PMID:15590697|PMID:19955556|PMID:25741868|PMID:28492532|PMID:9771712
1311174	Zic2	Zic family zinc finger 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11285244|PMID:15590697|PMID:19955556|PMID:25741868|PMID:28492532|PMID:9771712
1311174	Zic2	Zic family zinc finger 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311175	Zkscan5	zinc finger with KRAB and SCAN domains 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311175	Zkscan5	zinc finger with KRAB and SCAN domains 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311175	Zkscan5	zinc finger with KRAB and SCAN domains 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311175	Zkscan5	zinc finger with KRAB and SCAN domains 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311175	Zkscan5	zinc finger with KRAB and SCAN domains 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311175	Zkscan5	zinc finger with KRAB and SCAN domains 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311176	Papln	papilin, proteoglycan-like sulfated glycoprotein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311176	Papln	papilin, proteoglycan-like sulfated glycoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311176	Papln	papilin, proteoglycan-like sulfated glycoprotein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311176	Papln	papilin, proteoglycan-like sulfated glycoprotein	gene	DOID:1324	lung cancer		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311176	Papln	papilin, proteoglycan-like sulfated glycoprotein	gene	DOID:1909	melanoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311176	Papln	papilin, proteoglycan-like sulfated glycoprotein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311176	Papln	papilin, proteoglycan-like sulfated glycoprotein	gene	DOID:3275	thymoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311176	Papln	papilin, proteoglycan-like sulfated glycoprotein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311176	Papln	papilin, proteoglycan-like sulfated glycoprotein	gene	DOID:5041	esophageal cancer		ISO	RGD:1322495	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311176	Papln	papilin, proteoglycan-like sulfated glycoprotein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311176	Papln	papilin, proteoglycan-like sulfated glycoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311176	Papln	papilin, proteoglycan-like sulfated glycoprotein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311176	Papln	papilin, proteoglycan-like sulfated glycoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311176	Papln	papilin, proteoglycan-like sulfated glycoprotein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311177	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311177	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311177	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311177	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:1115	sarcoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311177	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:1909	melanoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311177	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:3275	thymoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311177	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311177	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1604192	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311177	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311177	Lpcat4	lysophosphatidylcholine acyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311180	Mrpl38	mitochondrial ribosomal protein L38	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311180	Mrpl38	mitochondrial ribosomal protein L38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311180	Mrpl38	mitochondrial ribosomal protein L38	gene	DOID:4362	cervical cancer		ISO	RGD:1322502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311180	Mrpl38	mitochondrial ribosomal protein L38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311180	Mrpl38	mitochondrial ribosomal protein L38	gene	DOID:6039	uveal melanoma		ISO	RGD:1322502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311180	Mrpl38	mitochondrial ribosomal protein L38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311181	Zfp385b	zinc finger protein 385B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311181	Zfp385b	zinc finger protein 385B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311181	Zfp385b	zinc finger protein 385B	gene	DOID:3275	thymoma		ISO	RGD:1322504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311181	Zfp385b	zinc finger protein 385B	gene	DOID:5041	esophageal cancer		ISO	RGD:1322504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311181	Zfp385b	zinc finger protein 385B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311181	Zfp385b	zinc finger protein 385B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311182	Sephs1	selenophosphate synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311182	Sephs1	selenophosphate synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311182	Sephs1	selenophosphate synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1322506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311182	Sephs1	selenophosphate synthetase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1322506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311182	Sephs1	selenophosphate synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311182	Sephs1	selenophosphate synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311182	Sephs1	selenophosphate synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311182	Sephs1	selenophosphate synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311182	Sephs1	selenophosphate synthetase 1	gene	DOID:9009403	Ververi-Brady syndrome 2		ISO	RGD:1322506	D	RGD:7240710	20251126	OMIM			
1311182	Sephs1	selenophosphate synthetase 1	gene	DOID:9009403	Ververi-Brady syndrome 2		ISO	RGD:1322506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: VERVERI-BRADY SYNDROME 2 | ClinVar Annotator: match by term: Ververi-Brady syndrome 2	PMID:25741868|PMID:38531365
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16648375|PMID:19006247|PMID:25741868|PMID:26133662|PMID:26467025|PMID:27353947|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:25525159|PMID:25741868|PMID:28492532|PMID:34353225
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:19006247|PMID:25741868|PMID:26133662|PMID:26467025|PMID:27353947|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:0060320	inguinal hernia		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:23352163|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34573280
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:0060521	cow milk allergy		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cow milk allergy	PMID:15141358|PMID:16648375|PMID:20461111|PMID:25741868|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:0070297	primary microcephaly		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:0111590	Cohen syndrome		ISO	RGD:1317598	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:12730828|PMID:15154116|PMID:17990063
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:0111590	Cohen syndrome		ISO	RGD:1317598	D	RGD:7240710	20130724	OMIM			
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:0111590	Cohen syndrome		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COHEN SYNDROME | ClinVar Annotator: match by term: Cohen Syndrome | ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: PEPPER SYNDROME | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition	PMID:12730828|PMID:15141358|PMID:15154116|PMID:15173253|PMID:15211651|PMID:15498460|PMID:15691367|PMID:15918062|PMID:16199547|PMID:16317551|PMID:16648375|PMID:16917849|PMID:17383910|PMID:17576681|PMID:17786118|PMID:17990063|PMID:18414213|PMID:18655112|PMID:19006247|PMID:19190672|PMID:19533689|PMID:19763152|PMID:20307669|PMID:20461111|PMID:20656880|PMID:20683995|PMID:20921020|PMID:21330571|PMID:21353197|PMID:21659346|PMID:21850686|PMID:21865173|PMID:22382802|PMID:22406018|PMID:22527104|PMID:22700954|PMID:22855652|PMID:23033978|PMID:23188044|PMID:23352163|PMID:24033266|PMID:24311531|PMID:24334746|PMID:24334764|PMID:25060287|PMID:25356970|PMID:25472526|PMID:25502226|PMID:25525159|PMID:25533962|PMID:25640679|PMID:25741868|PMID:26104215|PMID:26133662|PMID:26350204|PMID:26395554|PMID:26443248|PMID:26467025|PMID:26539891|PMID:26938784|PMID:27353947|PMID:27533158|PMID:27829003|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28631888|PMID:28832562|PMID:29149870|PMID:29431110|PMID:29453417|PMID:29634382|PMID:29706646|PMID:29758347|PMID:30138938|PMID:30144585|PMID:30290665|PMID:30602132|PMID:30843084|PMID:31444703|PMID:31474762|PMID:31825161|PMID:31836858|PMID:31965297|PMID:31980526|PMID:32170714|PMID:32384097|PMID:32483926|PMID:32505691|PMID:32581362|PMID:32919079|PMID:32959227|PMID:33023636|PMID:33025479|PMID:33217554|PMID:33959574|PMID:33994118|PMID:34006472|PMID:34353225|PMID:34425733|PMID:34426522|PMID:34448047|PMID:34573280|PMID:34644002|PMID:34672437|PMID:34946966|PMID:35026660|PMID:35052368|PMID:35488281|PMID:35599849|PMID:35616356|PMID:35690661|PMID:36067876|PMID:36672771|PMID:36875494|PMID:37541188|PMID:3757028|PMID:37690893|PMID:37940764|PMID:38067130|PMID:38219857|PMID:38771357|PMID:39342494|PMID:40510848|PMID:7350545|PMID:9536098
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:0111590	Cohen syndrome		ISS	RGD:1322508	D	RGD:13592920	20230718	MouseDO		OMIM:216550	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:10534	stomach cancer		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:19006247|PMID:25741868|PMID:26133662|PMID:26467025|PMID:27353947|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15141358|PMID:16648375|PMID:20461111|PMID:25741868|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:1059	intellectual disability		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:12730828|PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:20656880|PMID:20921020|PMID:23352163|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29758347|PMID:30843084|PMID:32581362|PMID:32919079|PMID:34353225|PMID:34573280
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:1059	intellectual disability		ISO	RGD:1317598	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:12730828|PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:20656880|PMID:20921020|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29758347|PMID:30843084|PMID:32919079|PMID:34353225
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:1059	intellectual disability		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:12730828|PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:20656880|PMID:20921020|PMID:23352163|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29758347|PMID:30843084|PMID:32919079|PMID:34353225|PMID:34573280
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:10907	microcephaly		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:20921020|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29758347|PMID:33584783|PMID:34353225
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:1115	sarcoma		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:11155	hypohidrosis		ISO	RGD:1317598	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:11514	fissured tongue		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Furrowed tongue	PMID:25741868
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868|PMID:26467025|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:11782	astigmatism		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:11830	myopia		ISO	RGD:1317598	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:11836	clubfoot		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:1227	neutropenia		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:25525159|PMID:25741868|PMID:28492532|PMID:34353225
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:12849	autistic disorder		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:15141358|PMID:16648375|PMID:21659346|PMID:22527104|PMID:25326635|PMID:25472526|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30144585
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:12849	autistic disorder		ISO	RGD:1317598	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:1324	lung cancer		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:1596	depressive disorder		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:1826	epilepsy		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:12730828|PMID:15141358|PMID:16648375|PMID:20461111|PMID:20656880|PMID:25741868|PMID:28492532|PMID:30843084|PMID:32919079
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:1827	generalized epilepsy		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:15141358|PMID:16648375|PMID:20461111|PMID:25741868|PMID:28041643|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:15141358|PMID:16648375|PMID:20461111|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:1891	optic nerve disease		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:1909	melanoma		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:2030	anxiety disorder		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:2234	focal epilepsy		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:15141358|PMID:16648375|PMID:20461111|PMID:25741868|PMID:28041643|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1317598	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:16648375|PMID:19006247|PMID:25741868|PMID:26133662|PMID:26467025|PMID:27353947|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:2841	asthma		ISO	RGD:1317598	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:2843	long QT syndrome		ISO	RGD:1317598	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:3070	high grade glioma		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:3275	thymoma		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:16648375|PMID:25741868|PMID:26467025|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:420	hypertrichosis		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:4362	cervical cancer		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16648375|PMID:25741868|PMID:26467025|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:4449	macular retinal edema		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular edema	PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:25525159|PMID:25741868|PMID:28492532|PMID:34353225
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:19006247|PMID:25741868|PMID:26133662|PMID:26467025|PMID:27353947|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:5041	esophageal cancer		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:19006247|PMID:25741868|PMID:26133662|PMID:26467025|PMID:27353947|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:5419	schizophrenia		ISO	RGD:1317598	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:5679	retinal disease		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:19006247|PMID:25741868|PMID:26133662|PMID:26467025|PMID:27353947|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:16648375|PMID:25741868|PMID:26467025|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:630	genetic disease		ISO	RGD:1317598	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15141358|PMID:15211651|PMID:16648375|PMID:17383910|PMID:17576681|PMID:18414213|PMID:19006247|PMID:20461111|PMID:20683995|PMID:20921020|PMID:23352163|PMID:25356970|PMID:25502226|PMID:25741868|PMID:26133662|PMID:26467025|PMID:27353947|PMID:27829003|PMID:28492532|PMID:29706646|PMID:29758347|PMID:34426522|PMID:34573280|PMID:35690661|PMID:9536098
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:19006247|PMID:25741868|PMID:26133662|PMID:26467025|PMID:27353947|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16648375|PMID:25741868|PMID:26467025|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:83	cataract		ISS	RGD:1322508	D	RGD:13592920	20201105	MouseDO		OMIM:601371	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:25525159|PMID:25741868|PMID:28492532|PMID:34353225
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9000065	Myopia 25, Autosomal Dominant		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia 25, autosomal dominant	PMID:25741868
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9001031	Retrognathia		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:15141358|PMID:16648375|PMID:20461111|PMID:25741868|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9001162	Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness	PMID:15141358|PMID:16199547|PMID:16648375|PMID:18414213|PMID:19006247|PMID:20461111|PMID:20683995|PMID:23352163|PMID:25502226|PMID:25741868|PMID:26133662|PMID:26467025|PMID:26539891|PMID:27353947|PMID:27829003|PMID:28041643|PMID:28492532|PMID:29706646|PMID:34426522|PMID:34573280|PMID:35690661
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:15141358|PMID:16648375|PMID:20461111|PMID:20921020|PMID:25741868|PMID:28492532|PMID:29758347
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1317598	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:15141358|PMID:16648375|PMID:20461111|PMID:25741868|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9001386	Albinism		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:15141358|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9001505	Anal Fissure		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anal fissure	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9001581	Constipation		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9001733	Tinnitus		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:15141358|PMID:16648375|PMID:20461111|PMID:25741868|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9002569	Overweight		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317598	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9003507	Premature Birth		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9004866	Ataxia		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:15141358|PMID:16648375|PMID:20461111|PMID:25741868|PMID:28041643|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9004979	Knee Dislocation		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Knee dislocation	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9005005	Oral Ulcer		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oral ulcer	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9005077	Joint Instability		ISO	RGD:1317598	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:15141358|PMID:16648375|PMID:20461111|PMID:20921020|PMID:25741868|PMID:28492532|PMID:29758347
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:25741868
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317598	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:15141358|PMID:16648375|PMID:20461111|PMID:25741868|PMID:28041643|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9006875	Sutton Disease 2		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent aphthous stomatitis	PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:25525159|PMID:25741868|PMID:28492532|PMID:34353225
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16648375|PMID:25741868|PMID:26467025|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9007573	Flatfoot		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:15141358|PMID:16648375|PMID:20461111|PMID:20921020|PMID:25741868|PMID:28492532|PMID:29758347
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9007653	Multiple Abnormalities	susceptibility	ISO	RGD:1317598	D	RGD:9068941	20200609	RGD		Cohen syndrome, OMIM:216550:DNA:deletion mutation, nonsense mutation, missense mutation	PMID:12730828|REF_RGD_ID:1357205
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9007661	Dwarfism		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature	PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:20921020|PMID:21659346|PMID:22527104|PMID:25326635|PMID:25472526|PMID:25525159|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29758347|PMID:30144585|PMID:34353225
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9007661	Dwarfism		ISO	RGD:1317598	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:20921020|PMID:25525159|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29758347|PMID:34353225
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317598	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12730828|PMID:15141358|PMID:16648375|PMID:20461111|PMID:20656880|PMID:20921020|PMID:25741868|PMID:28492532|PMID:29758347|PMID:30843084|PMID:32581362|PMID:32919079
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:15154116|PMID:16917849|PMID:19006247|PMID:19190672|PMID:23188044|PMID:24334764|PMID:25741868|PMID:26133662|PMID:26467025|PMID:27353947|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:15141358|PMID:16648375|PMID:20461111|PMID:23352163|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34573280
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16648375|PMID:19006247|PMID:25741868|PMID:26133662|PMID:26467025|PMID:27353947|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9256	colorectal cancer		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9351	diabetes mellitus		ISO	RGD:1317598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868|PMID:26467025|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:936	brain disease		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
1311183	Vps13b	vacuolar protein sorting 13 homolog B	gene	DOID:9663	aphthous stomatitis		ISO	RGD:1317598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Canker sore	PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:25525159|PMID:25741868|PMID:28492532|PMID:34353225
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:1324	lung cancer		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:1909	melanoma		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:4362	cervical cancer		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1322509	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1322509	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311184	Slc22a15	solute carrier family 22, member 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311185	Sh3pxd2a	SH3 and PX domains 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311185	Sh3pxd2a	SH3 and PX domains 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311185	Sh3pxd2a	SH3 and PX domains 2A	gene	DOID:0051061	stroke		ISO	RGD:1322510	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
1311185	Sh3pxd2a	SH3 and PX domains 2A	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1322510	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:28416822
1311185	Sh3pxd2a	SH3 and PX domains 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1322510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311185	Sh3pxd2a	SH3 and PX domains 2A	gene	DOID:1115	sarcoma		ISO	RGD:1322510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311185	Sh3pxd2a	SH3 and PX domains 2A	gene	DOID:1324	lung cancer		ISO	RGD:1322510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311185	Sh3pxd2a	SH3 and PX domains 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1322510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311185	Sh3pxd2a	SH3 and PX domains 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1322510	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311185	Sh3pxd2a	SH3 and PX domains 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311185	Sh3pxd2a	SH3 and PX domains 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311186	Fuom	fucose mutarotase	gene	DOID:10534	stomach cancer		ISO	RGD:1322512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311186	Fuom	fucose mutarotase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311188	Zfp707	zinc finger protein 707	gene	DOID:1324	lung cancer		ISO	RGD:36174119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311188	Zfp707	zinc finger protein 707	gene	DOID:1909	melanoma		ISO	RGD:36174119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311188	Zfp707	zinc finger protein 707	gene	DOID:4362	cervical cancer		ISO	RGD:36174119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311188	Zfp707	zinc finger protein 707	gene	DOID:5041	esophageal cancer		ISO	RGD:36174119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311188	Zfp707	zinc finger protein 707	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:36174119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311188	Zfp707	zinc finger protein 707	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:36174119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311188	Zfp707	zinc finger protein 707	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:36174119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311188	Zfp707	zinc finger protein 707	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:36174119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311188	Zfp707	zinc finger protein 707	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:36174119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311189	Zzef1	zinc finger ZZ-type and EF-hand domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311190	Ptx4	pentraxin 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1605189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:0060646	congenital chylothorax		ISS	RGD:1322519	D	RGD:13592920	20180518	MouseDO		OMIM:603523	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:10534	stomach cancer		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1322518	D	RGD:13602005|PMID:20479155	20180529	RGD		DNA:SNP: :rs155524(human)	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:1324	lung cancer		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322518	D	RGD:5490966|PMID:18772397	20140724	RGD		DNA:mutations:exon	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:1909	melanoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:3275	thymoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:1322518	D	RGD:13602007|PMID:21764681	20180529	RGD		DNA:SNPs,haplotype:rs189897,rs2212020(human)	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1322518	D	RGD:153350086|PMID:22491060	20220906	RGD		mRNA:decreased expression:lung (human)	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311191	Itga9	integrin subunit alpha 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:2154	nephroblastoma		ISO	RGD:1322520	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1322520	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104009
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311192	Map3k4	mitogen activated protein kinase kinase kinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311195	Lyplal1	lysophospholipase-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311195	Lyplal1	lysophospholipase-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311195	Lyplal1	lysophospholipase-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311195	Lyplal1	lysophospholipase-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1322525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311195	Lyplal1	lysophospholipase-like 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311195	Lyplal1	lysophospholipase-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322525	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311195	Lyplal1	lysophospholipase-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311195	Lyplal1	lysophospholipase-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322525	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311195	Lyplal1	lysophospholipase-like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311195	Lyplal1	lysophospholipase-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311195	Lyplal1	lysophospholipase-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311195	Lyplal1	lysophospholipase-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311196	Tdrkh	tudor and KH domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311196	Tdrkh	tudor and KH domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311196	Tdrkh	tudor and KH domain containing	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1322527	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	
1311196	Tdrkh	tudor and KH domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1322527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1311196	Tdrkh	tudor and KH domain containing	gene	DOID:14227	azoospermia		ISO	RGD:1322527	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Azoospermia	
1311196	Tdrkh	tudor and KH domain containing	gene	DOID:1909	melanoma		ISO	RGD:1322527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311196	Tdrkh	tudor and KH domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311196	Tdrkh	tudor and KH domain containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311196	Tdrkh	tudor and KH domain containing	gene	DOID:7319	axonal neuropathy		ISO	RGD:1322527	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Motor axonal neuropathy	
1311196	Tdrkh	tudor and KH domain containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311196	Tdrkh	tudor and KH domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311196	Tdrkh	tudor and KH domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311196	Tdrkh	tudor and KH domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311197	Mkrn3	makorin, ring finger protein, 3	gene	DOID:0112309	central precocious puberty 2		ISO	RGD:1322529	D	RGD:7240710	20140911	OMIM			
1311197	Mkrn3	makorin, ring finger protein, 3	gene	DOID:0112309	central precocious puberty 2		ISO	RGD:1322529	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MKRN3-related condition | ClinVar Annotator: match by term: PRECOCIOUS PUBERTY, CENTRAL, 2 | ClinVar Annotator: match by term: Precocious puberty, central, 2	PMID:23738509|PMID:25741868|PMID:28492532|PMID:30462148
1311197	Mkrn3	makorin, ring finger protein, 3	gene	DOID:0112309	central precocious puberty 2		ISS	RGD:1322530	D	RGD:13592920	20230718	MouseDO		OMIM:615346	
1311197	Mkrn3	makorin, ring finger protein, 3	gene	DOID:11983	Prader-Willi syndrome		ISO	RGD:1322529	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1311197	Mkrn3	makorin, ring finger protein, 3	gene	DOID:11983	Prader-Willi syndrome		ISO	RGD:1322529	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Prader-Willi syndrome	PMID:25741868
1311197	Mkrn3	makorin, ring finger protein, 3	gene	DOID:12849	autistic disorder		ISO	RGD:1322529	D	RGD:8554872	20250423	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
1311197	Mkrn3	makorin, ring finger protein, 3	gene	DOID:630	genetic disease		ISO	RGD:1322529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311197	Mkrn3	makorin, ring finger protein, 3	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1322529	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:23738509
1311197	Mkrn3	makorin, ring finger protein, 3	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1322529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
1311198	Gfod2	Gfo/Idh/MocA-like oxidoreductase domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311198	Gfod2	Gfo/Idh/MocA-like oxidoreductase domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1604583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311198	Gfod2	Gfo/Idh/MocA-like oxidoreductase domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311198	Gfod2	Gfo/Idh/MocA-like oxidoreductase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311198	Gfod2	Gfo/Idh/MocA-like oxidoreductase domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311199	Peli1	pellino E3 ubiquitin protein ligase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311199	Peli1	pellino E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311199	Peli1	pellino E3 ubiquitin protein ligase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311199	Peli1	pellino E3 ubiquitin protein ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1322532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311199	Peli1	pellino E3 ubiquitin protein ligase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311199	Peli1	pellino E3 ubiquitin protein ligase 1	gene	DOID:37	skin disease		ISO	RGD:1322532	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1311199	Peli1	pellino E3 ubiquitin protein ligase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311199	Peli1	pellino E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311199	Peli1	pellino E3 ubiquitin protein ligase 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1322532	D	RGD:11554173	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
1311199	Peli1	pellino E3 ubiquitin protein ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311199	Peli1	pellino E3 ubiquitin protein ligase 1	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1322532	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1311199	Peli1	pellino E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311199	Peli1	pellino E3 ubiquitin protein ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311199	Peli1	pellino E3 ubiquitin protein ligase 1	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1322532	D	RGD:152995405|PMID:33470690	20220617	RGD		DNA:SNP:exon: (rs329497) (human)	
1311203	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311203	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311203	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311203	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311203	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311203	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311203	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311203	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311203	Pik3ip1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:9775	diastolic heart failure		ISO	RGD:1605305	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1311204	Vtcn1	V-set domain containing T cell activation inhibitor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311204	Vtcn1	V-set domain containing T cell activation inhibitor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311204	Vtcn1	V-set domain containing T cell activation inhibitor 1	gene	DOID:1324	lung cancer		ISO	RGD:1606221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311204	Vtcn1	V-set domain containing T cell activation inhibitor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311204	Vtcn1	V-set domain containing T cell activation inhibitor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311205	Tm7sf2	transmembrane 7 superfamily member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311205	Tm7sf2	transmembrane 7 superfamily member 2	gene	DOID:1324	lung cancer		ISO	RGD:1322541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311205	Tm7sf2	transmembrane 7 superfamily member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322541	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311205	Tm7sf2	transmembrane 7 superfamily member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311205	Tm7sf2	transmembrane 7 superfamily member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311205	Tm7sf2	transmembrane 7 superfamily member 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1322541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1311205	Tm7sf2	transmembrane 7 superfamily member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311205	Tm7sf2	transmembrane 7 superfamily member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311206	Gas2l1	growth arrest-specific 2 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311206	Gas2l1	growth arrest-specific 2 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311206	Gas2l1	growth arrest-specific 2 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311206	Gas2l1	growth arrest-specific 2 like 1	gene	DOID:1909	melanoma		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311206	Gas2l1	growth arrest-specific 2 like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311206	Gas2l1	growth arrest-specific 2 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311206	Gas2l1	growth arrest-specific 2 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311206	Gas2l1	growth arrest-specific 2 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311206	Gas2l1	growth arrest-specific 2 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322543	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
1311208	Rbm17	RNA binding motif protein 17	gene	DOID:1324	lung cancer		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311208	Rbm17	RNA binding motif protein 17	gene	DOID:1909	melanoma		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311208	Rbm17	RNA binding motif protein 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311208	Rbm17	RNA binding motif protein 17	gene	DOID:4362	cervical cancer		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311208	Rbm17	RNA binding motif protein 17	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311208	Rbm17	RNA binding motif protein 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311208	Rbm17	RNA binding motif protein 17	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1322546	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337722
1311208	Rbm17	RNA binding motif protein 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311208	Rbm17	RNA binding motif protein 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:0050645	arterial tortuosity syndrome		ISO	RGD:1322548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial tortuosity	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:0081399	autosomal dominant distal hereditary motor neuronopathy 10		ISO	RGD:1322548	D	RGD:7240710	20221102	OMIM			
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:0081399	autosomal dominant distal hereditary motor neuronopathy 10		ISO	RGD:1322548	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: EMILIN1-related condition | ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 10 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 10	PMID:25741868|PMID:26462740|PMID:28492532|PMID:31978608|PMID:36351433
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:10283	prostate cancer		ISO	RGD:1322548	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:10763	hypertension		ISO	RGD:1322549	D	RGD:1580958|PMID:16530041	19990101	RGD			
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:1115	sarcoma		ISO	RGD:1322548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:3275	thymoma		ISO	RGD:1322548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:480	movement disease		ISO	RGD:1322548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322548	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:630	genetic disease		ISO	RGD:1322548	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1322548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1322548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:9007736	Vertigo		ISO	RGD:1322548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:9008874	ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME		ISO	RGD:1322548	D	RGD:7240710	20240918	OMIM			
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:9008874	ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME		ISO	RGD:1322548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME | ClinVar Annotator: match by term: Arterial tortuosity-bone fragility syndrome	PMID:25741868|PMID:28492532|PMID:36351433
1311209	Emilin1	elastin microfibril interfacer 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606794	D	RGD:8554872	20161011	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:1606794	D	RGD:8554872	20190723	ClinVar		ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy	PMID:25741868
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:1059	intellectual disability		ISO	RGD:1606794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:15148587|PMID:17503474|PMID:21681106|PMID:25741868|PMID:35887114
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:11832	visual epilepsy		ISO	RGD:1606794	D	RGD:11554173	20260106	CTD		CTD Direct Evidence: marker/mechanism	PMID:21623373
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:12849	autistic disorder		ISO	RGD:1606794	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17503474|PMID:18621663
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:12849	autistic disorder		ISO	RGD:1606794	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606794	D	RGD:329849000|PMID:28949795	20230607	RGD		mRNA:decreased expression:heart (human)	
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:1324	lung cancer		ISO	RGD:1606794	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28346479|PMID:28492532|PMID:29358611
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:1574	alcohol use disorder	sexual_dimorphism	ISO	RGD:1606794	D	RGD:597830062|PMID:33329073	20250228	RGD		DNA:SNPs:intron 1, 3: (rs8062784, rs12921846) (human)	
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1606794	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalised epilepsy	PMID:24039908|PMID:25741868|PMID:26467025|PMID:28346479|PMID:28492532|PMID:29358611|PMID:37962958
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606794	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28346479|PMID:28492532|PMID:29358611
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606794	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28346479|PMID:28492532|PMID:29358611
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:5419	schizophrenia		ISO	RGD:1606794	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606794	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28346479|PMID:28492532|PMID:29358611
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:630	genetic disease		ISO	RGD:1606794	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:37962958
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:37962958
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:1606794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EIG | ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:16199547|PMID:17576681|PMID:24039908|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28346479|PMID:28492532|PMID:29358611|PMID:31602316|PMID:31780880|PMID:37962958|PMID:9536098
1311210	Rbfox1	RNA binding fox-1 homolog 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606794	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311212	Il36rn	interleukin 36 receptor antagonist	gene	DOID:0080474	pustular psoriasis 14		ISO	RGD:1322552	D	RGD:7240710	20140911	OMIM			
1311212	Il36rn	interleukin 36 receptor antagonist	gene	DOID:0080474	pustular psoriasis 14		ISO	RGD:1322552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized pustular psoriasis | ClinVar Annotator: match by term: IL36RN-related condition | ClinVar Annotator: match by term: PSORIASIS 14, PUSTULAR | ClinVar Annotator: match by term: Psoriasis 14, pustular	PMID:16199547|PMID:17576681|PMID:21848462|PMID:22428995|PMID:22903787|PMID:23303454|PMID:23698098|PMID:23792462|PMID:23834760|PMID:23863864|PMID:24019411|PMID:24898045|PMID:24979538|PMID:25212972|PMID:25458002|PMID:25468355|PMID:25615897|PMID:25741868|PMID:25989471|PMID:26147717|PMID:26589685|PMID:27220475|PMID:27542682|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29892664|PMID:30953287|PMID:36331855|PMID:36804966|PMID:37414245|PMID:39003954|PMID:9536098
1311212	Il36rn	interleukin 36 receptor antagonist	gene	DOID:1324	lung cancer		ISO	RGD:1322552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311212	Il36rn	interleukin 36 receptor antagonist	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1322552	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:17576681|PMID:21839423|PMID:22428995|PMID:22903787|PMID:23303454|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23863864|PMID:24033266|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25741868|PMID:25989471|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27220475|PMID:27388993|PMID:27542682|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:30036598|PMID:30609409|PMID:9536098
1311212	Il36rn	interleukin 36 receptor antagonist	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1322552	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:17576681|PMID:21839423|PMID:22428995|PMID:22903787|PMID:23303454|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23863864|PMID:24033266|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25741868|PMID:25989471|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27220475|PMID:27388993|PMID:27542682|PMID:27900482|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:30036598|PMID:30609409|PMID:9536098
1311212	Il36rn	interleukin 36 receptor antagonist	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1322552	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition	PMID:17576681|PMID:21839423|PMID:22428995|PMID:22903787|PMID:23303454|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23863864|PMID:24033266|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25741868|PMID:25989471|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27220475|PMID:27388993|PMID:27542682|PMID:27900482|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:30036598|PMID:30609409|PMID:32301172|PMID:6147717|PMID:9536098
1311212	Il36rn	interleukin 36 receptor antagonist	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1322552	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:17576681|PMID:22903787|PMID:23303454|PMID:23698098|PMID:23863864|PMID:24979538|PMID:25212972|PMID:25468355|PMID:25741868|PMID:26589685|PMID:27542682|PMID:27900482|PMID:28063630|PMID:28492532|PMID:9536098
1311212	Il36rn	interleukin 36 receptor antagonist	gene	DOID:5041	esophageal cancer		ISO	RGD:1322552	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311212	Il36rn	interleukin 36 receptor antagonist	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311212	Il36rn	interleukin 36 receptor antagonist	gene	DOID:630	genetic disease		ISO	RGD:1322552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311212	Il36rn	interleukin 36 receptor antagonist	gene	DOID:8893	psoriasis		ISO	RGD:1322552	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1311212	Il36rn	interleukin 36 receptor antagonist	gene	DOID:9007838	Myocardial Reperfusion Injury		IMP		D	RGD:126925167|PMID:32048631	20210513	RGD			
1311213	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311213	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1617228	D	RGD:152998907|PMID:14583591	20220701	RGD		DNA:missense mutation:CDS:p.N60S (mouse)	
1311213	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1617228	D	RGD:152998908|PMID:24860162	20220701	RGD			
1311213	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1322554	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311213	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311213	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1322554	D	RGD:11554173	20230404	CTD		CTD Direct Evidence: marker/mechanism	PMID:15064703
1311213	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:9005172	Lung Neoplasms	susceptibility	ISO	RGD:1617228	D	RGD:11340955|PMID:16862160	20220630	RGD			
1311213	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311213	Dnai7	dynein axonemal intermediate chain 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311214	Smc6	structural maintenance of chromosomes 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311214	Smc6	structural maintenance of chromosomes 6	gene	DOID:10534	stomach cancer		ISO	RGD:1322555	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311214	Smc6	structural maintenance of chromosomes 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311214	Smc6	structural maintenance of chromosomes 6	gene	DOID:1115	sarcoma		ISO	RGD:1322555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311214	Smc6	structural maintenance of chromosomes 6	gene	DOID:1324	lung cancer		ISO	RGD:1322555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311214	Smc6	structural maintenance of chromosomes 6	gene	DOID:1909	melanoma		ISO	RGD:1322555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311214	Smc6	structural maintenance of chromosomes 6	gene	DOID:4362	cervical cancer		ISO	RGD:1322555	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311214	Smc6	structural maintenance of chromosomes 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311214	Smc6	structural maintenance of chromosomes 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1322555	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311214	Smc6	structural maintenance of chromosomes 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311214	Smc6	structural maintenance of chromosomes 6	gene	DOID:9005315	Laterality Defects, Autosomal Dominant		ISO	RGD:1322555	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Laterality defects, autosomal dominant	
1311214	Smc6	structural maintenance of chromosomes 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311214	Smc6	structural maintenance of chromosomes 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311214	Smc6	structural maintenance of chromosomes 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311215	Twsg1	twisted gastrulation BMP signaling modulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311215	Twsg1	twisted gastrulation BMP signaling modulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311215	Twsg1	twisted gastrulation BMP signaling modulator 1	gene	DOID:1909	melanoma		ISO	RGD:1322557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311215	Twsg1	twisted gastrulation BMP signaling modulator 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311215	Twsg1	twisted gastrulation BMP signaling modulator 1	gene	DOID:4621	holoprosencephaly		ISO	RGD:1322557	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:15013800
1311215	Twsg1	twisted gastrulation BMP signaling modulator 1	gene	DOID:9000066	Jaw Abnormalities		ISO	RGD:1322557	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:15013800
1311215	Twsg1	twisted gastrulation BMP signaling modulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311216	Gpatch3	G patch domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311216	Gpatch3	G patch domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1347677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311216	Gpatch3	G patch domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1347677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311216	Gpatch3	G patch domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311216	Gpatch3	G patch domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311216	Gpatch3	G patch domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311216	Gpatch3	G patch domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311217	Vcl	vinculin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322560	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:15331426|PMID:15769782|PMID:16236538|PMID:16712796|PMID:17785437|PMID:22421524|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25332820|PMID:25351510|PMID:25741868|PMID:26191084|PMID:26458567|PMID:26656175|PMID:27532257|PMID:27930701|PMID:28087426|PMID:28492532|PMID:28771489|PMID:29247119|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:33012304|PMID:33302605|PMID:33491343|PMID:35284542
1311217	Vcl	vinculin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322560	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:15331426|PMID:16712796|PMID:17576681|PMID:17785437|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26458567|PMID:27532257|PMID:27930701|PMID:28087426|PMID:28492532|PMID:28771489|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31983221|PMID:33012304|PMID:33491343|PMID:33500567|PMID:35284542|PMID:9536098
1311217	Vcl	vinculin	gene	DOID:0050793	short QT syndrome		ISO	RGD:1322560	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Short QT syndrome	PMID:25741868
1311217	Vcl	vinculin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1311217	Vcl	vinculin	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322560	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1311217	Vcl	vinculin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1322560	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:11815424|PMID:16236538|PMID:16712796|PMID:16949038|PMID:17097056|PMID:20474083|PMID:23159629|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:27503891|PMID:28492532|PMID:30847666|PMID:31983221|PMID:32880476
1311217	Vcl	vinculin	gene	DOID:0110321	hypertrophic cardiomyopathy 15		ISO	RGD:1322560	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311217	Vcl	vinculin	gene	DOID:0110321	hypertrophic cardiomyopathy 15		ISO	RGD:1322560	D	RGD:7240710	20130425	OMIM			
1311217	Vcl	vinculin	gene	DOID:0110321	hypertrophic cardiomyopathy 15		ISO	RGD:1322560	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: VCL-related condition	PMID:16199547|PMID:16712796|PMID:17576681|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24062880|PMID:24227891|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26735901|PMID:27532257|PMID:27930701|PMID:28087426|PMID:28492532|PMID:28771489|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31983221|PMID:32516855|PMID:32746448|PMID:32880476|PMID:33012304|PMID:33500567|PMID:33874732|PMID:34036930|PMID:35091851|PMID:9536098
1311217	Vcl	vinculin	gene	DOID:0110446	dilated cardiomyopathy 1W		ISO	RGD:1322560	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311217	Vcl	vinculin	gene	DOID:0110446	dilated cardiomyopathy 1W		ISO	RGD:1322560	D	RGD:7240710	20130425	OMIM			
1311217	Vcl	vinculin	gene	DOID:0110446	dilated cardiomyopathy 1W		ISO	RGD:1322560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1W | ClinVar Annotator: match by term: Dilated cardiomyopathy 1W	PMID:11815424|PMID:16199547|PMID:16236538|PMID:16712796|PMID:16949038|PMID:17097056|PMID:17576681|PMID:17785437|PMID:20474083|PMID:23159629|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24062880|PMID:24227891|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26046366|PMID:26735901|PMID:26776555|PMID:26899768|PMID:27503891|PMID:27532257|PMID:27930701|PMID:28087426|PMID:28087566|PMID:28218286|PMID:28492532|PMID:28611029|PMID:28771489|PMID:29247119|PMID:29255176|PMID:29875424|PMID:30165862|PMID:30775854|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:32746448|PMID:32880476|PMID:33012304|PMID:33057194|PMID:33491343|PMID:33500567|PMID:33658040|PMID:33874732|PMID:33954932|PMID:34036930|PMID:34350506|PMID:34935411|PMID:35091851|PMID:35288587|PMID:35352813|PMID:35982159|PMID:36252119|PMID:37342443|PMID:37548861|PMID:38296580|PMID:38612618|PMID:9536098
1311217	Vcl	vinculin	gene	DOID:0110454	dilated cardiomyopathy 1S		ISO	RGD:1322560	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1S	PMID:24033266|PMID:24062880|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:32880476
1311217	Vcl	vinculin	gene	DOID:10534	stomach cancer		ISO	RGD:1322560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17576681|PMID:28492532|PMID:9536098
1311217	Vcl	vinculin	gene	DOID:1115	sarcoma		ISO	RGD:1322560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1311217	Vcl	vinculin	gene	DOID:11476	osteoporosis		ISO	RGD:1322560	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
1311217	Vcl	vinculin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1322560	D	RGD:1580356|PMID:16236538	19990101	RGD			
1311217	Vcl	vinculin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1322560	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:16712796|PMID:20474083|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25016126|PMID:25351510|PMID:25741868|PMID:26656175|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28771489|PMID:29255176|PMID:29420653|PMID:29875424|PMID:30847666|PMID:31513939|PMID:33012304|PMID:34426522|PMID:39554508
1311217	Vcl	vinculin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322560	D	RGD:1580356|PMID:16236538	19990101	RGD			
1311217	Vcl	vinculin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322560	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11815424|PMID:16949038|PMID:17785437|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642
1311217	Vcl	vinculin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322560	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11815424|PMID:16949038|PMID:17785437|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642|PMID:32516855
1311217	Vcl	vinculin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322560	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11815424|PMID:16949038|PMID:17785437|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26191084|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642|PMID:32516855|PMID:32659924|PMID:34495297|PMID:34935411
1311217	Vcl	vinculin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16949038|PMID:17785437|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26735901|PMID:27532257|PMID:27930701|PMID:28492532|PMID:28771489|PMID:29255176|PMID:30847666|PMID:30923642|PMID:32516855|PMID:32659924|PMID:32746448|PMID:33012304|PMID:33874732|PMID:34495297|PMID:34935411|PMID:35288587|PMID:37548861
1311217	Vcl	vinculin	gene	DOID:1324	lung cancer		ISO	RGD:1322560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:17576681|PMID:28492532|PMID:9536098
1311217	Vcl	vinculin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311217	Vcl	vinculin	gene	DOID:2843	long QT syndrome		ISO	RGD:1322560	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:28492532
1311217	Vcl	vinculin	gene	DOID:2843	long QT syndrome		ISO	RGD:1322560	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868|PMID:28492532
1311217	Vcl	vinculin	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1322560	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532|PMID:32233023
1311217	Vcl	vinculin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311217	Vcl	vinculin	gene	DOID:5041	esophageal cancer		ISO	RGD:1322560	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311217	Vcl	vinculin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311217	Vcl	vinculin	gene	DOID:6000	congestive heart failure		ISO	RGD:1322560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221|PMID:33500567
1311217	Vcl	vinculin	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1322560	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
1311217	Vcl	vinculin	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1322560	D	RGD:11554173	20240206	CTD		CTD Direct Evidence: marker/mechanism	PMID:34801851
1311217	Vcl	vinculin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311217	Vcl	vinculin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311217	Vcl	vinculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1322560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:17576681|PMID:24033266|PMID:25741868|PMID:27930701|PMID:28492532|PMID:28771489|PMID:29255176|PMID:30847666|PMID:33012304|PMID:9536098
1311218	Mgst2	microsomal glutathione S-transferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311218	Mgst2	microsomal glutathione S-transferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311218	Mgst2	microsomal glutathione S-transferase 2	gene	DOID:1909	melanoma		ISO	RGD:1322562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311218	Mgst2	microsomal glutathione S-transferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322562	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311218	Mgst2	microsomal glutathione S-transferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311218	Mgst2	microsomal glutathione S-transferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311218	Mgst2	microsomal glutathione S-transferase 2	gene	DOID:9002159	Liver Reperfusion Injury		IEP		D	RGD:626419685|PMID:17397868	20250905	RGD		mRNA:decreased expression:liver	
1311218	Mgst2	microsomal glutathione S-transferase 2	gene	DOID:9004590	Acute Liver Failure		IEP		D	RGD:2302283|PMID:18461660	20250905	RGD		mRNA:increased expression:liver	
1311219	Emc8	ER membrane protein complex subunit 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311219	Emc8	ER membrane protein complex subunit 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311219	Emc8	ER membrane protein complex subunit 8	gene	DOID:1115	sarcoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311219	Emc8	ER membrane protein complex subunit 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311219	Emc8	ER membrane protein complex subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311219	Emc8	ER membrane protein complex subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322563	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311219	Emc8	ER membrane protein complex subunit 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311220	Letm2	leucine zipper and EF-hand containing transmembrane protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1322565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311221	Lrrc41	leucine rich repeat containing 41	gene	DOID:10534	stomach cancer		ISO	RGD:1607070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311221	Lrrc41	leucine rich repeat containing 41	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311221	Lrrc41	leucine rich repeat containing 41	gene	DOID:1324	lung cancer		ISO	RGD:1607070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311221	Lrrc41	leucine rich repeat containing 41	gene	DOID:1909	melanoma		ISO	RGD:1607070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311221	Lrrc41	leucine rich repeat containing 41	gene	DOID:3070	high grade glioma		ISO	RGD:1607070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311221	Lrrc41	leucine rich repeat containing 41	gene	DOID:4362	cervical cancer		ISO	RGD:1607070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311221	Lrrc41	leucine rich repeat containing 41	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607070	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311221	Lrrc41	leucine rich repeat containing 41	gene	DOID:5041	esophageal cancer		ISO	RGD:1607070	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311221	Lrrc41	leucine rich repeat containing 41	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1607070	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
1311221	Lrrc41	leucine rich repeat containing 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311221	Lrrc41	leucine rich repeat containing 41	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:0060058	lymphoma		ISO	RGD:1322567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:1115	sarcoma		ISO	RGD:1322567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:3070	high grade glioma		ISO	RGD:1322567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:4362	cervical cancer		ISO	RGD:1322567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1322567	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:9003566	Mesothelioma		ISO	RGD:1322567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1322567	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311222	Abcb10	ATP binding cassette subfamily B member 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311223	Gk5	glycerol kinase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311223	Gk5	glycerol kinase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311223	Gk5	glycerol kinase 5	gene	DOID:1324	lung cancer		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311223	Gk5	glycerol kinase 5	gene	DOID:1909	melanoma		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311223	Gk5	glycerol kinase 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311223	Gk5	glycerol kinase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311223	Gk5	glycerol kinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311223	Gk5	glycerol kinase 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311223	Gk5	glycerol kinase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311223	Gk5	glycerol kinase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:10534	stomach cancer		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:1324	lung cancer		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:1909	melanoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:3275	thymoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:4362	cervical cancer		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:6039	uveal melanoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311225	Zc3h7a	zinc finger CCCH type containing 7 A	gene	DOID:9256	colorectal cancer		ISO	RGD:1322571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1322573	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability | ClinVar Annotator: match by term: syndromic intellectual disability	PMID:25741868|PMID:28492532
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0060249	scoliosis		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0060260	ptosis		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:29021403|PMID:29393965
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:27479907|PMID:28492532|PMID:29021403|PMID:29393965|PMID:30525188|PMID:30904094|PMID:31238879|PMID:32762766|PMID:33879837|PMID:36114283|PMID:36599938
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0080584	autosomal dominant Wolfram syndrome		ISO	RGD:1322573	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Wolfram-like disorder	PMID:25741868|PMID:28492532|PMID:33879837
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		ISO	RGD:1322573	D	RGD:11560583|PMID:27479907	20221103	RGD		DNA:mutations: :	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		ISO	RGD:1322573	D	RGD:155631311|PMID:29021403	20221103	RGD		DNA:Mutations:cds :	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		ISO	RGD:1322573	D	RGD:155631312|PMID:28807008	20221103	RGD		DNA:Mutations:cds :	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		ISO	RGD:1322573	D	RGD:155641229|PMID:29393965	20221103	RGD		DNA:mutations:cds:	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		ISO	RGD:1322573	D	RGD:7240710	20190315	OMIM			
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		ISO	RGD:1322573	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CDK13-Related Disorder | ClinVar Annotator: match by term: CDK13-related condition | ClinVar Annotator: match by term: CDK13-related disorder | ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER | ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | ClinVar Annotator: match by term: congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	PMID:25741868|PMID:25741869|PMID:25741891|PMID:27479907|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403|PMID:29393965|PMID:30174453|PMID:30525188|PMID:30702837|PMID:30904094|PMID:31238879|PMID:31607746|PMID:32762766|PMID:33004838|PMID:33879837|PMID:34429528|PMID:35063350|PMID:35468861|PMID:35651941|PMID:36114283|PMID:36599938|PMID:37010288|PMID:37501076|PMID:38321498
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		ISS	RGD:1322574	D	RGD:13592920	20230718	MouseDO		OMIM:617360	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:10283	prostate cancer		ISO	RGD:1322573	D	RGD:155641232|PMID:33390186	20221103	RGD		mRNA,protein:increased expression:prostate:	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:10286	prostate carcinoma	ameliorates	ISO	RGD:1322573	D	RGD:155641232|PMID:33390186	20221103	RGD			
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:10348	blepharophimosis		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:25741868|PMID:29393965
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:1059	intellectual disability		ISO	RGD:1322573	D	RGD:155631309|PMID:29222009	20221101	RGD		DNA:Mutations: :	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:1059	intellectual disability		ISO	RGD:1322573	D	RGD:155631311|PMID:29021403	20221101	RGD		DNA:Mutations:cds :	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:1059	intellectual disability		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:27479907|PMID:28492532|PMID:29021403|PMID:29393965|PMID:30525188|PMID:30904094|PMID:31238879|PMID:32762766|PMID:33004838|PMID:33879837|PMID:36114283|PMID:36599938
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:10907	microcephaly		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:10908	hydrocephalus		ISO	RGD:1322573	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:27479907|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:29393965
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:11383	cryptorchidism		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:33004838
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Iron deficiency anemia	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:11782	astigmatism		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:27479907|PMID:28492532|PMID:29021403|PMID:29393965|PMID:30525188|PMID:30904094|PMID:31238879|PMID:31607746|PMID:32762766|PMID:33879837|PMID:36114283|PMID:36599938
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:11830	myopia		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:11836	clubfoot		ISO	RGD:1322573	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:27479907|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1322573	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:27479907|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:12849	autistic disorder		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:1324	lung cancer		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:13938	amenorrhea		ISO	RGD:1322573	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:1612	breast cancer	severity	ISO	RGD:1322573	D	RGD:155641236|PMID:33292020	20221103	RGD			
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:1682	congenital heart disease		ISO	RGD:1322573	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Congenital heart defects | ClinVar Annotator: match by term: congenital heart defects	PMID:25741868
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:1686	glaucoma		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:25741868|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:1826	epilepsy		ISO	RGD:39456913	D	RGD:9068941	20260618	ClinVar		ClinVar Annotator: match by term: Epilepsy	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1322573	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:27479907|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:1909	melanoma		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:2030	anxiety disorder		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:2355	anemia		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:27479907|PMID:28492532|PMID:29021403|PMID:29393965|PMID:30525188|PMID:30904094|PMID:31238879|PMID:32762766|PMID:33879837|PMID:36114283|PMID:36599938
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:2394	ovarian cancer		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:2841	asthma		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:2846	bruxism		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:3310	atopic dermatitis		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dermatitis, atopic	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:420	hypertrichosis		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:535	sleep disorder		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:540	strabismus		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:27479907|PMID:28492532|PMID:29021403|PMID:29393965|PMID:30525188|PMID:30904094|PMID:31238879|PMID:32762766|PMID:33879837|PMID:36114283|PMID:36599938
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:543	dystonia		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:630	genetic disease		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25741891|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28807008|PMID:29021403|PMID:29393965|PMID:30525188|PMID:30904094|PMID:31238879|PMID:31607746|PMID:32762766|PMID:33004838|PMID:33879837|PMID:35043535|PMID:35063350|PMID:35468861|PMID:35651941|PMID:36114283|PMID:36599938|PMID:37501076
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1322573	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868|PMID:27479907|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:684	hepatocellular carcinoma	onset	ISO	RGD:1322573	D	RGD:155641228|PMID:22912832	20221102	RGD		DNA:amplification: :	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:8488	polyhydramnios		ISO	RGD:1322573	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868|PMID:27479907|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9000348	Confusion		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Confusion	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9000495	Tremor		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9000977	Halitosis		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Halitosis	PMID:25741868|PMID:27479907|PMID:28492532|PMID:29021403|PMID:29393965|PMID:30525188|PMID:30904094|PMID:31238879|PMID:32762766|PMID:33879837|PMID:36114283|PMID:36599938
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9001031	Retrognathia		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322573	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30904094
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9001510	Funnel Chest		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9001581	Constipation		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9003133	Hypertelorism		ISO	RGD:1322573	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:27479907|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9003591	Telecanthus		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:29393965
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322573	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9004866	Ataxia		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9005077	Joint Instability		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:25741868|PMID:27479907|PMID:28492532|PMID:29021403|PMID:29393965|PMID:30525188|PMID:30904094|PMID:31238879|PMID:31607746|PMID:32762766|PMID:33004838|PMID:33879837|PMID:36114283|PMID:36599938
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27479907|PMID:28492532|PMID:29021403|PMID:29393965|PMID:30525188|PMID:30904094|PMID:31238879|PMID:31607746|PMID:32762766|PMID:33004838|PMID:33879837|PMID:36114283|PMID:36599938
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9005616	Micrognathism		ISO	RGD:1322573	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:27479907|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9006617	Fatigue		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9007073	Cough		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cough	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9007661	Dwarfism		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:27479907|PMID:28492532|PMID:29021403|PMID:29393965|PMID:30525188|PMID:30904094|PMID:31238879|PMID:32762766|PMID:33879837|PMID:36114283|PMID:36599938
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9007827	Upper Airway Obstruction		ISO	RGD:1322573	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Upper airway obstruction	PMID:25741868|PMID:27479907|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9008023	Memory Disorders		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Developmental Delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25741891|PMID:27479907|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403|PMID:29393965|PMID:30904094|PMID:31607746|PMID:32762766|PMID:33004838|PMID:35063350|PMID:35468861|PMID:35651941|PMID:37501076
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9008214	Genu Valgum		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868|PMID:27479907|PMID:28492532|PMID:29021403|PMID:29393965|PMID:30525188|PMID:30904094|PMID:31238879|PMID:32762766|PMID:33879837|PMID:36114283|PMID:36599938
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1322573	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:27479907|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9008675	Dyskinesias		ISO	RGD:1322573	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868|PMID:31607746
1311226	Cdk13	cyclin-dependent kinase 13	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1322573	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:27479907|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:0060260	ptosis		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:0080716	infantile liver failure syndrome		ISO	RGD:1322577	D	RGD:25440486|PMID:19732863	20200419	RGD		DNA:mutations:multiple	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:0080778	transient infantile liver failure		ISO	RGD:1322577	D	RGD:7240710	20130221	OMIM			
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:0080778	transient infantile liver failure		ISO	RGD:1322577	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition | ClinVar Annotator: match by term: Transient infantile liver failure	PMID:16199547|PMID:17576681|PMID:19732863|PMID:21931168|PMID:23625533|PMID:25741868|PMID:26633542|PMID:28252636|PMID:28492532|PMID:28973083|PMID:30740308|PMID:33365252|PMID:36305855|PMID:37184518|PMID:37272928|PMID:38113276|PMID:9536098
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:0111734	aminoglycoside-induced deafness		ISO	RGD:1322577	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:0111734	aminoglycoside-induced deafness		ISO	RGD:1322577	D	RGD:7240710	20130221	OMIM			
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:0111734	aminoglycoside-induced deafness		ISO	RGD:1322577	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY	PMID:16199547|PMID:17576681|PMID:19732863|PMID:21153446|PMID:21169334|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:26633542|PMID:28252636|PMID:28492532|PMID:28973083|PMID:30369941|PMID:30740308|PMID:31160058|PMID:31683770|PMID:32445240|PMID:33083013|PMID:33084218|PMID:33365252|PMID:33485800|PMID:34052969|PMID:36305855|PMID:37184518|PMID:37272928|PMID:37976411|PMID:38113276|PMID:38703036|PMID:9536098
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:10534	stomach cancer		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:10907	microcephaly		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:1115	sarcoma		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:1324	lung cancer		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:1909	melanoma		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:2843	long QT syndrome		ISO	RGD:1322577	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:3650	lactic acidosis		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:409	liver disease		ISS	RGD:1619985	D	RGD:13592920	20180518	MouseDO			
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:4362	cervical cancer		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:4428	dyslexia		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:4540	dysgraphia		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysgraphia	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:5082	liver cirrhosis		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cirrhosis of liver	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:540	strabismus		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:630	genetic disease		ISO	RGD:1322577	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:28973083|PMID:31160058|PMID:33083013|PMID:33084218|PMID:37184518|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9001031	Retrognathia		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9001581	Constipation		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9002079	Paresis		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9004212	Mitochondrial Myopathy, Lethal Infantile		ISO	RGD:1322577	D	RGD:21066346|PMID:23625533	20200419	RGD		DNA:mutations:multiple	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9005077	Joint Instability		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9007573	Flatfoot		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9007874	Liver Failure		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Liver failure	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9256	colorectal cancer		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311229	Trmu	tRNA mitochondrial 2-thiouridylase	gene	DOID:9452	steatotic liver disease		ISO	RGD:1322577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:19732863|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:28492532|PMID:31160058|PMID:33083013|PMID:33084218|PMID:38113276
1311230	C1galt1c1	C1GALT1-specific chaperone 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311230	C1galt1c1	C1GALT1-specific chaperone 1	gene	DOID:0080520	Tn polyagglutination syndrome		ISO	RGD:1344219	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311230	C1galt1c1	C1GALT1-specific chaperone 1	gene	DOID:0080520	Tn polyagglutination syndrome		ISO	RGD:1344219	D	RGD:7240710	20130221	OMIM			
1311230	C1galt1c1	C1GALT1-specific chaperone 1	gene	DOID:9002623	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE		ISO	RGD:1344219	D	RGD:7240710	20230830	OMIM			
1311230	C1galt1c1	C1GALT1-specific chaperone 1	gene	DOID:9002623	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE		ISO	RGD:1344219	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: C1GALT1C1-related condition | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature | ClinVar Annotator: match by term: hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature	PMID:25741868|PMID:28492532|PMID:36599939|PMID:37216524|PMID:39949072
1311230	C1galt1c1	C1GALT1-specific chaperone 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:0061062	immunodeficiency 92		ISO	RGD:1322580	D	RGD:7240710	20211222	OMIM			
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:0061062	immunodeficiency 92		ISO	RGD:1322580	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 92 | ClinVar Annotator: match by term: Immunodeficiency 92 | ClinVar Annotator: match by term: REL-related condition | ClinVar Annotator: match by term: immunodeficiency 92	PMID:25741868|PMID:28492532
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1322580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:1115	sarcoma		ISO	RGD:1322580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:1612	breast cancer		ISO	RGD:1322580	D	RGD:2300275|PMID:10713699	20080910	RGD			
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1322580	D	RGD:2300270|PMID:12452071	20080910	RGD			
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1322580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19503088|PMID:20453842|PMID:23143596
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1322580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21037568
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:8893	psoriasis		ISO	RGD:1322580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953190
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:8929	atrophic gastritis		ISO	RGD:1322581	D	RGD:40902973|PMID:23975431	20201217	RGD		associated with Helicobacter Infections	
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1322581	D	RGD:2300264|PMID:12897145	20080910	RGD			
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:9000495	Tremor		ISO	RGD:1322580	D	RGD:11554173	20210209	CTD		CTD Direct Evidence: therapeutic	PMID:31481676
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:9000831	Hypokinesia		ISO	RGD:1322580	D	RGD:11554173	20210209	CTD		CTD Direct Evidence: therapeutic	PMID:31481676
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:9004649	Heat Stroke		ISO	RGD:1322580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039931
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:9008023	Memory Disorders		ISO	RGD:1322580	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20477932
1311231	Rel	REL proto-oncogene, NF-kB subunit	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1322581	D	RGD:40902978|PMID:25727407	20201218	RGD		associated with Experimental Colitis	
1311232	Svbp	small vasohibin binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:1605525	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:30607023|PMID:31363758
1311232	Svbp	small vasohibin binding protein	gene	DOID:10907	microcephaly		ISO	RGD:1605525	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:30607023|PMID:31363758
1311232	Svbp	small vasohibin binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311232	Svbp	small vasohibin binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1605525	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311232	Svbp	small vasohibin binding protein	gene	DOID:630	genetic disease		ISO	RGD:1605525	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311232	Svbp	small vasohibin binding protein	gene	DOID:9008370	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY		ISO	RGD:1605525	D	RGD:7240710	20230104	OMIM			
1311232	Svbp	small vasohibin binding protein	gene	DOID:9008370	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY		ISO	RGD:1605525	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IQBAL NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY | ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly	PMID:25741868|PMID:30607023|PMID:31363758
1311232	Svbp	small vasohibin binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311234	Bhlha9	basic helix-loop-helix family, member a9	gene	DOID:630	genetic disease		ISO	RGD:2302834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311234	Bhlha9	basic helix-loop-helix family, member a9	gene	DOID:9003579	Complex Camptosynpolydactyly		ISO	RGD:2302834	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311234	Bhlha9	basic helix-loop-helix family, member a9	gene	DOID:9003579	Complex Camptosynpolydactyly		ISO	RGD:2302834	D	RGD:7240710	20190315	OMIM			
1311234	Bhlha9	basic helix-loop-helix family, member a9	gene	DOID:9003579	Complex Camptosynpolydactyly		ISO	RGD:2302834	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Camptosynpolydactyly, complex	PMID:25741868|PMID:28492532
1311234	Bhlha9	basic helix-loop-helix family, member a9	gene	DOID:9005938	Mesoaxial Synostotic Syndactyly with Phalangeal Reduction		ISO	RGD:2302834	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311234	Bhlha9	basic helix-loop-helix family, member a9	gene	DOID:9005938	Mesoaxial Synostotic Syndactyly with Phalangeal Reduction		ISO	RGD:2302834	D	RGD:7240710	20150114	OMIM			
1311234	Bhlha9	basic helix-loop-helix family, member a9	gene	DOID:9005938	Mesoaxial Synostotic Syndactyly with Phalangeal Reduction		ISO	RGD:2302834	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BHLHA9-related condition | ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction | ClinVar Annotator: match by term: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION	PMID:25741868|PMID:28492532
1311235	Myl9	myosin light chain 9	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1322585	D	RGD:1582589|PMID:16076902	20061114	RGD			
1311235	Myl9	myosin light chain 9	gene	DOID:178	vascular disease		ISO	RGD:1322585	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18511912
1311235	Myl9	myosin light chain 9	gene	DOID:4724	brain edema		ISO	RGD:1322585	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17419808
1311235	Myl9	myosin light chain 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322585	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311235	Myl9	myosin light chain 9	gene	DOID:9006417	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4		ISO	RGD:1322585	D	RGD:7240710	20210707	OMIM			
1311236	Slc39a9	solute carrier family 39, member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322587	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311236	Slc39a9	solute carrier family 39, member 9	gene	DOID:3070	high grade glioma		ISO	RGD:1322587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311236	Slc39a9	solute carrier family 39, member 9	gene	DOID:4362	cervical cancer		ISO	RGD:1322587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311236	Slc39a9	solute carrier family 39, member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311236	Slc39a9	solute carrier family 39, member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311236	Slc39a9	solute carrier family 39, member 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:1909	melanoma		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322590	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322590	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311238	Ltn1	listerin E3 ubiquitin protein ligase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311239	Pdcd6	programmed cell death 6	gene	DOID:3275	thymoma		ISO	RGD:1322592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311241	Mier3	MIER family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311241	Mier3	MIER family member 3	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1605562	D	RGD:407571690|PMID:34242623	20241001	RGD			
1311241	Mier3	MIER family member 3	gene	DOID:1612	breast cancer	exacerbates	ISO	RGD:1605562	D	RGD:407571690|PMID:34242623	20241001	RGD			
1311241	Mier3	MIER family member 3	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1605562	D	RGD:407571689|PMID:22993404	20241001	RGD		mRNA:increased expression:breast	
1311241	Mier3	MIER family member 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605562	D	RGD:407571696|PMID:35117188	20241002	RGD		mRNA:decreased expression:lung	
1311241	Mier3	MIER family member 3	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1605562	D	RGD:407571696|PMID:35117188	20241002	RGD			
1311241	Mier3	MIER family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311241	Mier3	MIER family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311241	Mier3	MIER family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311242	Slc35f2	solute carrier family 35, member F2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311242	Slc35f2	solute carrier family 35, member F2	gene	DOID:1324	lung cancer		ISO	RGD:1344599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1311242	Slc35f2	solute carrier family 35, member F2	gene	DOID:1909	melanoma		ISO	RGD:1344599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311242	Slc35f2	solute carrier family 35, member F2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311242	Slc35f2	solute carrier family 35, member F2	gene	DOID:3275	thymoma		ISO	RGD:1344599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311242	Slc35f2	solute carrier family 35, member F2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311242	Slc35f2	solute carrier family 35, member F2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311242	Slc35f2	solute carrier family 35, member F2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311242	Slc35f2	solute carrier family 35, member F2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311242	Slc35f2	solute carrier family 35, member F2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311243	Dhrs7b	dehydrogenase/reductase 7B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311243	Dhrs7b	dehydrogenase/reductase 7B	gene	DOID:1324	lung cancer		ISO	RGD:1601764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311243	Dhrs7b	dehydrogenase/reductase 7B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311243	Dhrs7b	dehydrogenase/reductase 7B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:1909	melanoma		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:3275	thymoma		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:9004507	Hirsutism		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311245	Rsf1	remodeling and spacing factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311247	Dlgap5	DLG associated protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311247	Dlgap5	DLG associated protein 5	gene	DOID:0080600	COVID-19		ISO	RGD:1322602	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311247	Dlgap5	DLG associated protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1322602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311247	Dlgap5	DLG associated protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311247	Dlgap5	DLG associated protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1322602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311247	Dlgap5	DLG associated protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1322602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311247	Dlgap5	DLG associated protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1322602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311247	Dlgap5	DLG associated protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1322602	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311247	Dlgap5	DLG associated protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311247	Dlgap5	DLG associated protein 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311247	Dlgap5	DLG associated protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322602	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1311247	Dlgap5	DLG associated protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311247	Dlgap5	DLG associated protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1311247	Dlgap5	DLG associated protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311249	Atosb	atos homolog B	gene	DOID:1470	major depressive disorder		ISO	RGD:1322605	D	RGD:9068941	20260305	RGD		mRNA:decreased expression:blood	PMID:25226551|REF_RGD_ID:634888054
1311249	Atosb	atos homolog B	gene	DOID:1909	melanoma		ISO	RGD:1322605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311249	Atosb	atos homolog B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311250	Slc35c2	solute carrier family 35 member C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311250	Slc35c2	solute carrier family 35 member C2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311250	Slc35c2	solute carrier family 35 member C2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322607	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311250	Slc35c2	solute carrier family 35 member C2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311250	Slc35c2	solute carrier family 35 member C2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:10534	stomach cancer		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28188106|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34606182|PMID:34646395|PMID:34653963|PMID:35039564|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31403082|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31403082|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25793145
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37262986|PMID:37438524|PMID:37445923|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37262986|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37529773|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37529773|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17923702|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25249249|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30709382|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:37656691|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38854973|PMID:39085400|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27659017|PMID:27664052|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30709382|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35095854|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36161273|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37091313|PMID:37201465|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:37656691|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38570878|PMID:38854973|PMID:39085400|PMID:39226054|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17923702|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20054297|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21732128|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24120057|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24726177|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25249249|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27659017|PMID:27664052|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30709382|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31428572
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34387910|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35095854|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36161273|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37091313|PMID:37201465|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:37656691|PMID:37930190|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38313678|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38570878|PMID:38854973|PMID:39085400|PMID:39226054|PMID:39636577|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33747920|PMID:33919281|PMID:34067464|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9887333
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35365198|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35365198|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35154108|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35763645|PMID:36315919|PMID:36704080|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35708139|PMID:35734982|PMID:35763645|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28495237|PMID:28608266|PMID:28652578|PMID:28724467|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:36091166|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18497957|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28495237|PMID:28608266|PMID:28652578|PMID:28724467|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:36091166|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18497957|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26270727|PMID:26296696|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28495237|PMID:28608266|PMID:28652578|PMID:28724467|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32295079
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:32338768|PMID:32427313|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:36091166|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37091313|PMID:37262986|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:36091166|PMID:36094610|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36703223|PMID:36704080|PMID:36845387|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:38147532|PMID:38489015|PMID:38854973|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:2394	ovarian cancer		ISO	RGD:1603171	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer	PMID:10330348|PMID:11756185|PMID:12552559|PMID:17576681|PMID:21933854|PMID:22585167|PMID:23807571|PMID:25032865|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:26094658|PMID:26270727|PMID:26467025|PMID:26681312|PMID:28007021|PMID:28008555|PMID:28492532|PMID:30322717|PMID:30549301|PMID:31050087|PMID:8659541|PMID:9463314|PMID:9536098|PMID:9872980
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:3275	thymoma		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:4362	cervical cancer		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5041	esophageal cancer		ISO	RGD:1603171	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32853339|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9887333
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9764584|PMID:9887333
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25502423|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34117267|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35047863|PMID:35245693|PMID:35264596|PMID:35708139|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25040471|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25502423|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34337741|PMID:34646395|PMID:34680878|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35245693|PMID:35264596|PMID:35312250|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36568162|PMID:36988593|PMID:581456|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36988593|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36988593|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36988593|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36988593|PMID:37091313|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35467778|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35467778|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25326637|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35467778|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35467778|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30447919
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38489015|PMID:38854973|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38489015|PMID:38854973|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38489015|PMID:38496821|PMID:38854973|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12883528|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29555025|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:29958926|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38313678|PMID:38489015|PMID:38496821|PMID:38854973|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12883528|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29555025|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:29958926|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35358259|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38118367|PMID:38136308|PMID:38313678|PMID:38489015|PMID:38496821|PMID:38673061|PMID:38734904|PMID:38854973|PMID:38896321|PMID:38917355|PMID:39085400|PMID:39122510|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34350294|PMID:34359559
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:34371384|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35201558|PMID:35260754|PMID:35309086|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35154108|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35666082|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36704080|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35127508|PMID:35154108|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:35039564|PMID:35047863|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36988593|PMID:37009283|PMID:37262986|PMID:37438524|PMID:37445923|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36988593|PMID:37009283|PMID:37262986|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37529773|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1603171	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30713859|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38854973|PMID:39085400|PMID:4012663|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10571946|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24584352|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25249249|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25957637|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10571946|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24584352|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25249249|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25957637|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30713859|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35095854|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36845387|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37091313|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38854973|PMID:39085400|PMID:4012663|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30713859|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35095854|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36845387|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37091313|PMID:37201465|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38570878|PMID:38854973|PMID:39085400|PMID:39226054|PMID:4012663|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:11093010	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 10	PMID:25741868|PMID:25980754|PMID:28492532|PMID:33471991
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:12898667	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:17968022|PMID:25741868|PMID:28492532
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:9851325	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28779002|PMID:30287823
1311251	C8h11orf65	similar to human chromosome 11 open reading frame 65	gene	DOID:9256	colorectal cancer		ISO	RGD:1603171	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:10330348|PMID:10817650|PMID:10980530|PMID:12646636|PMID:15039971|PMID:16266405|PMID:21665257|PMID:21833744|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26681312|PMID:27433846|PMID:28492532|PMID:29360161|PMID:30067863|PMID:31159747|PMID:32295079|PMID:9443866|PMID:9887333
1311252	Hivep3	HIVEP zinc finger 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311252	Hivep3	HIVEP zinc finger 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311252	Hivep3	HIVEP zinc finger 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311252	Hivep3	HIVEP zinc finger 3	gene	DOID:12849	autistic disorder		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1311252	Hivep3	HIVEP zinc finger 3	gene	DOID:1909	melanoma		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311252	Hivep3	HIVEP zinc finger 3	gene	DOID:3070	high grade glioma		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311252	Hivep3	HIVEP zinc finger 3	gene	DOID:3275	thymoma		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311252	Hivep3	HIVEP zinc finger 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311252	Hivep3	HIVEP zinc finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311252	Hivep3	HIVEP zinc finger 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322610	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1311252	Hivep3	HIVEP zinc finger 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322610	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1311252	Hivep3	HIVEP zinc finger 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311252	Hivep3	HIVEP zinc finger 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311253	Spcs2	signal peptidase complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311253	Spcs2	signal peptidase complex subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1345346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:0112236	lissencephaly 6		ISO	RGD:1322615	D	RGD:7240710	20170503	OMIM			
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:0112236	lissencephaly 6		ISO	RGD:1322615	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: KATNB1-related condition | ClinVar Annotator: match by term: LISSENCEPHALY 6 WITH MICROCEPHALY | ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly	PMID:25521378|PMID:25521379|PMID:25741868|PMID:28492532
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:10534	stomach cancer		ISO	RGD:1322615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:1059	intellectual disability		ISO	RGD:1322615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:1324	lung cancer		ISO	RGD:1322615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:1909	melanoma		ISO	RGD:1322615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322615	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:630	genetic disease		ISO	RGD:1322615	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311256	Katnb1	katanin regulatory subunit B1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311257	Slx9	SLX9 ribosome biogenesis factor	gene	DOID:1115	sarcoma		ISO	RGD:1322617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311257	Slx9	SLX9 ribosome biogenesis factor	gene	DOID:3275	thymoma		ISO	RGD:1322617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311257	Slx9	SLX9 ribosome biogenesis factor	gene	DOID:4362	cervical cancer		ISO	RGD:1322617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311257	Slx9	SLX9 ribosome biogenesis factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311257	Slx9	SLX9 ribosome biogenesis factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311257	Slx9	SLX9 ribosome biogenesis factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1322617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311258	Srrm1	serine and arginine repetitive matrix 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311258	Srrm1	serine and arginine repetitive matrix 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311258	Srrm1	serine and arginine repetitive matrix 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311258	Srrm1	serine and arginine repetitive matrix 1	gene	DOID:11714	gestational diabetes		ISO	RGD:1322619	D	RGD:11038724|PMID:24308201	20160223	RGD		protein:increased glycation:placenta (human)	
1311258	Srrm1	serine and arginine repetitive matrix 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311258	Srrm1	serine and arginine repetitive matrix 1	gene	DOID:3070	high grade glioma		ISO	RGD:1322619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311258	Srrm1	serine and arginine repetitive matrix 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311258	Srrm1	serine and arginine repetitive matrix 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311258	Srrm1	serine and arginine repetitive matrix 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: neurodevelopmental disorder	
1311258	Srrm1	serine and arginine repetitive matrix 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311259	Paqr5	progestin and adipoQ receptor family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311259	Paqr5	progestin and adipoQ receptor family member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1606550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311259	Paqr5	progestin and adipoQ receptor family member 5	gene	DOID:1115	sarcoma		ISO	RGD:1606550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311259	Paqr5	progestin and adipoQ receptor family member 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311259	Paqr5	progestin and adipoQ receptor family member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:0060058	lymphoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:0060341	agnathia-otocephaly complex		ISS	RGD:1621362	D	RGD:13592920	20180518	MouseDO		OMIM:202650	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:10534	stomach cancer		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:12583	velocardiofacial syndrome		ISS	RGD:1621362	D	RGD:13592920	20180518	MouseDO		OMIM:192430	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:1909	melanoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:37	skin disease		ISO	RGD:1322626	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:4362	cervical cancer		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1322626	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:6039	uveal melanoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1322626	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:9008994	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY		ISO	RGD:1322626	D	RGD:7240710	20230719	OMIM			
1311263	Trappc10	trafficking protein particle complex subunit 10	gene	DOID:9008994	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY		ISO	RGD:1322626	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, short stature, and speech delay	PMID:25741868
1311264	Ltv1	LTV1 ribosome biogenesis factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311264	Ltv1	LTV1 ribosome biogenesis factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311264	Ltv1	LTV1 ribosome biogenesis factor	gene	DOID:0070510	inflammatory poikiloderma with hair abnormalities and acral keratoses		ISO	RGD:1322627	D	RGD:7240710	20230201	OMIM			
1311264	Ltv1	LTV1 ribosome biogenesis factor	gene	DOID:0070510	inflammatory poikiloderma with hair abnormalities and acral keratoses		ISO	RGD:1322627	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inflammatory poikiloderma with hair abnormalities and acral keratoses	
1311264	Ltv1	LTV1 ribosome biogenesis factor	gene	DOID:10534	stomach cancer		ISO	RGD:1322627	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311264	Ltv1	LTV1 ribosome biogenesis factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311264	Ltv1	LTV1 ribosome biogenesis factor	gene	DOID:3275	thymoma		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311264	Ltv1	LTV1 ribosome biogenesis factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311264	Ltv1	LTV1 ribosome biogenesis factor	gene	DOID:4362	cervical cancer		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311264	Ltv1	LTV1 ribosome biogenesis factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311264	Ltv1	LTV1 ribosome biogenesis factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311264	Ltv1	LTV1 ribosome biogenesis factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311264	Ltv1	LTV1 ribosome biogenesis factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311265	Mettl25b	methyltransferase like 25B	gene	DOID:1324	lung cancer		ISO	RGD:1603041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311265	Mettl25b	methyltransferase like 25B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311265	Mettl25b	methyltransferase like 25B	gene	DOID:2394	ovarian cancer		ISO	RGD:1603041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311265	Mettl25b	methyltransferase like 25B	gene	DOID:3070	high grade glioma		ISO	RGD:1603041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311265	Mettl25b	methyltransferase like 25B	gene	DOID:3275	thymoma		ISO	RGD:1603041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311265	Mettl25b	methyltransferase like 25B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311265	Mettl25b	methyltransferase like 25B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311266	Tex15	testis expressed 15, meiosis and synapsis associated	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1322630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868|PMID:28492532
1311266	Tex15	testis expressed 15, meiosis and synapsis associated	gene	DOID:0111920	spermatogenic failure 25		ISO	RGD:1322630	D	RGD:7240710	20190315	OMIM			
1311266	Tex15	testis expressed 15, meiosis and synapsis associated	gene	DOID:0111920	spermatogenic failure 25		ISO	RGD:1322630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 25 | ClinVar Annotator: match by term: Spermatogenic failure 25 | ClinVar Annotator: match by term: TEX15-related condition	PMID:25741868|PMID:26199321|PMID:28492532
1311266	Tex15	testis expressed 15, meiosis and synapsis associated	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1322630	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
1311266	Tex15	testis expressed 15, meiosis and synapsis associated	gene	DOID:14228	oligospermia		ISO	RGD:1322630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868
1311266	Tex15	testis expressed 15, meiosis and synapsis associated	gene	DOID:2661	myoepithelioma		ISO	RGD:1322630	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1311266	Tex15	testis expressed 15, meiosis and synapsis associated	gene	DOID:9003436	CRYPTOZOOSPERMIA		ISO	RGD:1322630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptozoospermia	PMID:25741868
1311266	Tex15	testis expressed 15, meiosis and synapsis associated	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311267	Spef1	sperm flagellar and cilia associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311267	Spef1	sperm flagellar and cilia associated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311267	Spef1	sperm flagellar and cilia associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311268	Rpusd4	RNA pseudouridine synthase D4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311268	Rpusd4	RNA pseudouridine synthase D4	gene	DOID:10534	stomach cancer		ISO	RGD:1345355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311268	Rpusd4	RNA pseudouridine synthase D4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311268	Rpusd4	RNA pseudouridine synthase D4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311268	Rpusd4	RNA pseudouridine synthase D4	gene	DOID:3275	thymoma		ISO	RGD:1345355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311268	Rpusd4	RNA pseudouridine synthase D4	gene	DOID:4362	cervical cancer		ISO	RGD:1345355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311268	Rpusd4	RNA pseudouridine synthase D4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311268	Rpusd4	RNA pseudouridine synthase D4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311268	Rpusd4	RNA pseudouridine synthase D4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311269	Tyw5	tRNA-yW synthesizing protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311269	Tyw5	tRNA-yW synthesizing protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311269	Tyw5	tRNA-yW synthesizing protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311269	Tyw5	tRNA-yW synthesizing protein 5	gene	DOID:3275	thymoma		ISO	RGD:1604998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311269	Tyw5	tRNA-yW synthesizing protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311270	Nvl	nuclear VCP-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311270	Nvl	nuclear VCP-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311270	Nvl	nuclear VCP-like	gene	DOID:1115	sarcoma		ISO	RGD:1322636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311270	Nvl	nuclear VCP-like	gene	DOID:1324	lung cancer		ISO	RGD:1322636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311270	Nvl	nuclear VCP-like	gene	DOID:1909	melanoma		ISO	RGD:1322636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311270	Nvl	nuclear VCP-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311270	Nvl	nuclear VCP-like	gene	DOID:3275	thymoma		ISO	RGD:1322636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311270	Nvl	nuclear VCP-like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322636	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311270	Nvl	nuclear VCP-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1322636	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311270	Nvl	nuclear VCP-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311270	Nvl	nuclear VCP-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311270	Nvl	nuclear VCP-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311270	Nvl	nuclear VCP-like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311270	Nvl	nuclear VCP-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311270	Nvl	nuclear VCP-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311270	Nvl	nuclear VCP-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311271	Ippk	inositol-pentakisphosphate 2-kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311271	Ippk	inositol-pentakisphosphate 2-kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311271	Ippk	inositol-pentakisphosphate 2-kinase	gene	DOID:1115	sarcoma		ISO	RGD:1322638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311271	Ippk	inositol-pentakisphosphate 2-kinase	gene	DOID:1909	melanoma		ISO	RGD:1322638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311271	Ippk	inositol-pentakisphosphate 2-kinase	gene	DOID:3275	thymoma		ISO	RGD:1322638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311271	Ippk	inositol-pentakisphosphate 2-kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311271	Ippk	inositol-pentakisphosphate 2-kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311271	Ippk	inositol-pentakisphosphate 2-kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311271	Ippk	inositol-pentakisphosphate 2-kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322638	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1342764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polycystic liver disease	PMID:25741868|PMID:31395617
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1342764	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:31395617
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:0080564	congenital disorder of glycosylation Il		ISO	RGD:1342764	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:0080564	congenital disorder of glycosylation Il		ISO	RGD:1342764	D	RGD:7240710	20130221	OMIM			
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:0080564	congenital disorder of glycosylation Il		ISO	RGD:1342764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation | ClinVar Annotator: match by term: CDG Il | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il	PMID:15148656|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25966638|PMID:26467025|PMID:28122681|PMID:28492532|PMID:31395617|PMID:32398770|PMID:36326140|PMID:9536098
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1342764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:2975	cystic kidney disease		ISO	RGD:1342764	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Familial cystic renal disease	PMID:25741868|PMID:39899384
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1342764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1342764	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:25741868|PMID:39899384
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:9001306	Gillessen-Kaesbach-Nishimura Dysplasia		ISO	RGD:1342764	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:9001306	Gillessen-Kaesbach-Nishimura Dysplasia		ISO	RGD:1342764	D	RGD:7240710	20190315	OMIM			
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:9001306	Gillessen-Kaesbach-Nishimura Dysplasia		ISO	RGD:1342764	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALG9-associated autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome	PMID:25741868|PMID:25966638|PMID:26467025|PMID:28122681|PMID:28492532|PMID:31395617|PMID:32398770|PMID:36326140|PMID:39899384
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311272	Alg9	ALG9, alpha-1,2-mannosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311274	Mfap3l	microfibril associated protein 3 like	gene	DOID:3275	thymoma		ISO	RGD:1322643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311274	Mfap3l	microfibril associated protein 3 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311275	Foxh1	forkhead box H1	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1322646	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1311275	Foxh1	forkhead box H1	gene	DOID:0060341	agnathia-otocephaly complex		ISS	RGD:1322646	D	RGD:13592920	20180518	MouseDO		OMIM:202650	
1311275	Foxh1	forkhead box H1	gene	DOID:4621	holoprosencephaly		ISO	RGD:1322645	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: FOXH1-related condition | ClinVar Annotator: match by term: Holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence	PMID:18538293|PMID:25741868|PMID:28492532
1311275	Foxh1	forkhead box H1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311275	Foxh1	forkhead box H1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311275	Foxh1	forkhead box H1	gene	DOID:630	genetic disease		ISO	RGD:1322645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311275	Foxh1	forkhead box H1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1322645	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25093829
1311275	Foxh1	forkhead box H1	gene	DOID:9007617	Conotruncal Cardiac Defects		ISO	RGD:1322645	D	RGD:155791676|PMID:32003456	20230105	RGD		DNA:misense mutations:cds:multiple	
1311275	Foxh1	forkhead box H1	gene	DOID:9007617	Conotruncal Cardiac Defects		ISO	RGD:1322645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Conotruncal defect	PMID:32003456
1311276	Sntg2	syntrophin, gamma 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1350202	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20808228
1311276	Sntg2	syntrophin, gamma 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311276	Sntg2	syntrophin, gamma 2	gene	DOID:12849	autistic disorder		ISO	RGD:1350202	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17292328
1311276	Sntg2	syntrophin, gamma 2	gene	DOID:1909	melanoma		ISO	RGD:1350202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311276	Sntg2	syntrophin, gamma 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311276	Sntg2	syntrophin, gamma 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311276	Sntg2	syntrophin, gamma 2	gene	DOID:9002189	High Myopia		ISO	RGD:1350202	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1311278	Sel1l2	SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1322649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311278	Sel1l2	SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:1115	sarcoma		ISO	RGD:1322649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311278	Sel1l2	SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:3275	thymoma		ISO	RGD:1322649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311278	Sel1l2	SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311278	Sel1l2	SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311278	Sel1l2	SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311281	Ceacam20	CEA cell adhesion molecule 20	gene	DOID:1115	sarcoma		ISO	RGD:1601830	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311281	Ceacam20	CEA cell adhesion molecule 20	gene	DOID:4362	cervical cancer		ISO	RGD:1601830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311281	Ceacam20	CEA cell adhesion molecule 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1601830	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311281	Ceacam20	CEA cell adhesion molecule 20	gene	DOID:5050	Ehrlich tumor carcinoma		ISO	RGD:1601830	D	RGD:11554173	20220308	CTD		CTD Direct Evidence: marker/mechanism	PMID:34605108
1311282	Prss35	serine protease 35	gene	DOID:1115	sarcoma		ISO	RGD:1322654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311282	Prss35	serine protease 35	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1322654	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ocular albinism	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0060249	scoliosis		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0060260	ptosis		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0070070	autosomal dominant intellectual developmental disorder 40		ISO	RGD:1322656	D	RGD:7240710	20151111	OMIM			
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0070070	autosomal dominant intellectual developmental disorder 40		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHAMP1-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES	PMID:23020937|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580|PMID:28492532|PMID:36797464|PMID:38177409
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1322656	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: T-cell lymphoma	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322656	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: intellectual disability with severe speech impairment	PMID:23020937|PMID:24781758|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disability with severe speech impairment	PMID:23020937|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:10604	lactose intolerance		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactose intolerance	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:10754	otitis media		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:10907	microcephaly		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1143	exotropia		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:11782	astigmatism		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:23020937|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:11836	clubfoot		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1205	allergic disease		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:12270	coloboma		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:13250	diarrhea		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1555	urticaria		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urticaria	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1826	epilepsy		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1909	melanoma		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:255	hemangioma		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:2712	phimosis		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Phimosis	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:2841	asthma		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322656	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:535	sleep disorder		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:540	strabismus		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:552	pneumonia		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pneumonia	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:630	genetic disease		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9000052	Breech Presentation		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breech presentation	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9000495	Tremor		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:23020937|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9001581	Constipation		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741869
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9002707	Hallux Varus		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux varus	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322656	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:23020937|PMID:24781758|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9004865	Nuchal Cord		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nuchal cord	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9004992	Apnea		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:23020937|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23020937|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9008189	Pyelectasis		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9834	hyperopia		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1311283	Champ1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9970	obesity		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1311284	Ttc5	tetratricopeptide repeat domain 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311284	Ttc5	tetratricopeptide repeat domain 5	gene	DOID:10534	stomach cancer		ISO	RGD:1322658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311284	Ttc5	tetratricopeptide repeat domain 5	gene	DOID:1324	lung cancer		ISO	RGD:1322658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311284	Ttc5	tetratricopeptide repeat domain 5	gene	DOID:1909	melanoma		ISO	RGD:1322658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311284	Ttc5	tetratricopeptide repeat domain 5	gene	DOID:4362	cervical cancer		ISO	RGD:1322658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311284	Ttc5	tetratricopeptide repeat domain 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1322658	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311284	Ttc5	tetratricopeptide repeat domain 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311284	Ttc5	tetratricopeptide repeat domain 5	gene	DOID:9001167	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM		ISO	RGD:1322658	D	RGD:7240710	20210519	OMIM			
1311284	Ttc5	tetratricopeptide repeat domain 5	gene	DOID:9001167	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM		ISO	RGD:1322658	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	PMID:25741868|PMID:32439809
1311284	Ttc5	tetratricopeptide repeat domain 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311286	Rab39a	RAB39A, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1322661	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311286	Rab39a	RAB39A, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311287	Cd109	CD109 molecule	gene	DOID:10534	stomach cancer		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311287	Cd109	CD109 molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311287	Cd109	CD109 molecule	gene	DOID:1115	sarcoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311287	Cd109	CD109 molecule	gene	DOID:1909	melanoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311287	Cd109	CD109 molecule	gene	DOID:3070	high grade glioma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311287	Cd109	CD109 molecule	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311287	Cd109	CD109 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311287	Cd109	CD109 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311287	Cd109	CD109 molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1322663	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311287	Cd109	CD109 molecule	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311287	Cd109	CD109 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311287	Cd109	CD109 molecule	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311287	Cd109	CD109 molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311287	Cd109	CD109 molecule	gene	DOID:9002189	High Myopia		ISO	RGD:1322663	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1311287	Cd109	CD109 molecule	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311287	Cd109	CD109 molecule	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311287	Cd109	CD109 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311287	Cd109	CD109 molecule	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1322663	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:21278247
1311287	Cd109	CD109 molecule	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322663	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
1311287	Cd109	CD109 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311287	Cd109	CD109 molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322663	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311287	Cd109	CD109 molecule	gene	DOID:9256	colorectal cancer		ISO	RGD:1322663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311288	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311288	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:10534	stomach cancer		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311288	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311288	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:1909	melanoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311288	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311288	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311288	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311288	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311288	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311288	Dcaf11	DDB1 and CUL4 associated factor 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311289	Spag9	sperm associated antigen 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311289	Spag9	sperm associated antigen 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311289	Spag9	sperm associated antigen 9	gene	DOID:10534	stomach cancer		ISO	RGD:1322667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311289	Spag9	sperm associated antigen 9	gene	DOID:1324	lung cancer		ISO	RGD:1322667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311289	Spag9	sperm associated antigen 9	gene	DOID:1380	endometrial cancer		ISO	RGD:1322667	D	RGD:30296659|PMID:24460345	20200612	RGD		protein:increased expression:serum:	
1311289	Spag9	sperm associated antigen 9	gene	DOID:1909	melanoma		ISO	RGD:1322667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311289	Spag9	sperm associated antigen 9	gene	DOID:3275	thymoma		ISO	RGD:1322667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311289	Spag9	sperm associated antigen 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311289	Spag9	sperm associated antigen 9	gene	DOID:4362	cervical cancer		ISO	RGD:1322667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311289	Spag9	sperm associated antigen 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1322667	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311289	Spag9	sperm associated antigen 9	gene	DOID:5082	liver cirrhosis		ISO	RGD:1322667	D	RGD:30296654|PMID:29344208	20200612	RGD		associated with Human Viral Hepatitis	
1311289	Spag9	sperm associated antigen 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311289	Spag9	sperm associated antigen 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1322667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311289	Spag9	sperm associated antigen 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311289	Spag9	sperm associated antigen 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322667	D	RGD:30296654|PMID:29344208	20200612	RGD		associated with Human Viral Hepatitis	
1311289	Spag9	sperm associated antigen 9	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1322667	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1311289	Spag9	sperm associated antigen 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311289	Spag9	sperm associated antigen 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311289	Spag9	sperm associated antigen 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311292	Rcn1	reticulocalbin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322672	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311292	Rcn1	reticulocalbin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311292	Rcn1	reticulocalbin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311292	Rcn1	reticulocalbin 1	gene	DOID:1324	lung cancer		ISO	RGD:1322672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311292	Rcn1	reticulocalbin 1	gene	DOID:305	carcinoma		ISO	RGD:1322672	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1311292	Rcn1	reticulocalbin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311292	Rcn1	reticulocalbin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311292	Rcn1	reticulocalbin 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1322672	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1311292	Rcn1	reticulocalbin 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322672	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311292	Rcn1	reticulocalbin 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1322672	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1311292	Rcn1	reticulocalbin 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311293	Nlrx1	NLR family member X1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311293	Nlrx1	NLR family member X1	gene	DOID:0080690	RASopathy		ISO	RGD:1606225	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:22742743|PMID:28492532
1311293	Nlrx1	NLR family member X1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311293	Nlrx1	NLR family member X1	gene	DOID:1115	sarcoma		ISO	RGD:1606225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311293	Nlrx1	NLR family member X1	gene	DOID:1324	lung cancer		ISO	RGD:1606225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311293	Nlrx1	NLR family member X1	gene	DOID:2843	long QT syndrome		ISO	RGD:1606225	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1311293	Nlrx1	NLR family member X1	gene	DOID:3275	thymoma		ISO	RGD:1606225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311293	Nlrx1	NLR family member X1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311293	Nlrx1	NLR family member X1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311293	Nlrx1	NLR family member X1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311293	Nlrx1	NLR family member X1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311293	Nlrx1	NLR family member X1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311293	Nlrx1	NLR family member X1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311293	Nlrx1	NLR family member X1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311294	Fam184a	family with sequence similarity 184, member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322675	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311294	Fam184a	family with sequence similarity 184, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311294	Fam184a	family with sequence similarity 184, member A	gene	DOID:10534	stomach cancer		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311294	Fam184a	family with sequence similarity 184, member A	gene	DOID:1115	sarcoma		ISO	RGD:1322675	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311294	Fam184a	family with sequence similarity 184, member A	gene	DOID:1826	epilepsy		ISO	RGD:1322675	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy	
1311294	Fam184a	family with sequence similarity 184, member A	gene	DOID:1909	melanoma		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311294	Fam184a	family with sequence similarity 184, member A	gene	DOID:2394	ovarian cancer		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311294	Fam184a	family with sequence similarity 184, member A	gene	DOID:303	substance-related disorder		ISO	RGD:1322675	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1311294	Fam184a	family with sequence similarity 184, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311294	Fam184a	family with sequence similarity 184, member A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311294	Fam184a	family with sequence similarity 184, member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311294	Fam184a	family with sequence similarity 184, member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311294	Fam184a	family with sequence similarity 184, member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1311294	Fam184a	family with sequence similarity 184, member A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311295	Dmap1	DNA methyltransferase 1-associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311295	Dmap1	DNA methyltransferase 1-associated protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1311295	Dmap1	DNA methyltransferase 1-associated protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311295	Dmap1	DNA methyltransferase 1-associated protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1322676	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1311295	Dmap1	DNA methyltransferase 1-associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311295	Dmap1	DNA methyltransferase 1-associated protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311295	Dmap1	DNA methyltransferase 1-associated protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311295	Dmap1	DNA methyltransferase 1-associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311295	Dmap1	DNA methyltransferase 1-associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311295	Dmap1	DNA methyltransferase 1-associated protein 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1311295	Dmap1	DNA methyltransferase 1-associated protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322676	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1311295	Dmap1	DNA methyltransferase 1-associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311295	Dmap1	DNA methyltransferase 1-associated protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311295	Dmap1	DNA methyltransferase 1-associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:0050998	nonprogressive cerebellar ataxia with mental retardation		ISO	RGD:1322678	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities	PMID:25741868
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:0060058	lymphoma		ISO	RGD:1322678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:0060207	amyotrophic lateral sclerosis type 16		ISO	RGD:1322678	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:1324	lung cancer		ISO	RGD:1322678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:1909	melanoma		ISO	RGD:1322678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:3275	thymoma		ISO	RGD:1322678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322678	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1322678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311296	Camta2	calmodulin binding transcription activator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311297	Mak16	MAK16 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311297	Mak16	MAK16 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311297	Mak16	MAK16 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311297	Mak16	MAK16 homolog	gene	DOID:3275	thymoma		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311297	Mak16	MAK16 homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311297	Mak16	MAK16 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311297	Mak16	MAK16 homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311297	Mak16	MAK16 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311297	Mak16	MAK16 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311297	Mak16	MAK16 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1350635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311298	Ubald2	UBA-like domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311298	Ubald2	UBA-like domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311298	Ubald2	UBA-like domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311298	Ubald2	UBA-like domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605547	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311298	Ubald2	UBA-like domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311298	Ubald2	UBA-like domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311302	Ift122	intraflagellar transport 122	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311302	Ift122	intraflagellar transport 122	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868
1311302	Ift122	intraflagellar transport 122	gene	DOID:0050577	cranioectodermal dysplasia		ISO	RGD:1349473	D	RGD:11554173	20190402	CTD		CTD Direct Evidence: marker/mechanism	
1311302	Ift122	intraflagellar transport 122	gene	DOID:0050577	cranioectodermal dysplasia		ISO	RGD:1349473	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensenbrenner syndrome	PMID:25741868
1311302	Ift122	intraflagellar transport 122	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1311302	Ift122	intraflagellar transport 122	gene	DOID:0080803	cranioectodermal dysplasia 1		ISO	RGD:1349473	D	RGD:7240710	20190327	OMIM			
1311302	Ift122	intraflagellar transport 122	gene	DOID:0080803	cranioectodermal dysplasia 1		ISO	RGD:1349473	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRANIOECTODERMAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 | ClinVar Annotator: match by term: LEVIN SYNDROME I	PMID:16199547|PMID:17576681|PMID:20493458|PMID:23826986|PMID:24027799|PMID:25640679|PMID:25741868|PMID:26792575|PMID:28370949|PMID:28492532|PMID:29037998|PMID:33532864|PMID:38318288|PMID:9536098
1311302	Ift122	intraflagellar transport 122	gene	DOID:10907	microcephaly		ISO	RGD:1349473	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1311302	Ift122	intraflagellar transport 122	gene	DOID:10908	hydrocephalus		ISO	RGD:1349473	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20493458
1311302	Ift122	intraflagellar transport 122	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311302	Ift122	intraflagellar transport 122	gene	DOID:1115	sarcoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311302	Ift122	intraflagellar transport 122	gene	DOID:12849	autistic disorder		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1311302	Ift122	intraflagellar transport 122	gene	DOID:1909	melanoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311302	Ift122	intraflagellar transport 122	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311302	Ift122	intraflagellar transport 122	gene	DOID:2340	craniosynostosis		ISO	RGD:1349473	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20493458
1311302	Ift122	intraflagellar transport 122	gene	DOID:2340	craniosynostosis		ISO	RGD:1349473	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:23826986|PMID:24027799|PMID:25741868
1311302	Ift122	intraflagellar transport 122	gene	DOID:5041	esophageal cancer		ISO	RGD:1349473	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311302	Ift122	intraflagellar transport 122	gene	DOID:557	kidney disease		ISO	RGD:1349473	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20493458
1311302	Ift122	intraflagellar transport 122	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1311302	Ift122	intraflagellar transport 122	gene	DOID:6039	uveal melanoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1311302	Ift122	intraflagellar transport 122	gene	DOID:630	genetic disease		ISO	RGD:1349473	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311302	Ift122	intraflagellar transport 122	gene	DOID:65	connective tissue disease		ISO	RGD:1349473	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
1311302	Ift122	intraflagellar transport 122	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1311302	Ift122	intraflagellar transport 122	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1349473	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20493458
1311302	Ift122	intraflagellar transport 122	gene	DOID:9002608	Spinal Curvatures		ISO	RGD:1349473	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20493458
1311302	Ift122	intraflagellar transport 122	gene	DOID:9002860	Cardiac Edema		ISO	RGD:1349473	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20493458
1311302	Ift122	intraflagellar transport 122	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1349473	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20493458
1311302	Ift122	intraflagellar transport 122	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311303	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311303	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:0060058	lymphoma		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311303	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:0110392	retinitis pigmentosa 70		ISO	RGD:1322687	D	RGD:7240710	20170405	OMIM			
1311303	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:0110392	retinitis pigmentosa 70		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PRPF4-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 70	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311303	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:10534	stomach cancer		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311303	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:303	substance-related disorder		ISO	RGD:1322687	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1311303	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311303	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:4362	cervical cancer		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311303	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311303	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311303	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322687	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:24419317|PMID:24959063|PMID:25741868|PMID:28492532
1311303	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311303	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311303	Prpf4	pre-mRNA splicing tri-snRNP complex factor PRPF4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311305	Golga1	golgin A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311305	Golga1	golgin A1	gene	DOID:10534	stomach cancer		ISO	RGD:1322690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311305	Golga1	golgin A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311305	Golga1	golgin A1	gene	DOID:1115	sarcoma		ISO	RGD:1322690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311305	Golga1	golgin A1	gene	DOID:3275	thymoma		ISO	RGD:1322690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311305	Golga1	golgin A1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311305	Golga1	golgin A1	gene	DOID:4362	cervical cancer		ISO	RGD:1322690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311305	Golga1	golgin A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311305	Golga1	golgin A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322690	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311305	Golga1	golgin A1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311305	Golga1	golgin A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311306	Rsph3	radial spoke head 3	gene	DOID:0110603	primary ciliary dyskinesia 32		ISO	RGD:1322691	D	RGD:7240710	20170301	OMIM			
1311306	Rsph3	radial spoke head 3	gene	DOID:0110603	primary ciliary dyskinesia 32		ISO	RGD:1322691	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 32 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 32 | ClinVar Annotator: match by term: Primary ciliary dyskinesia 32	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26073779|PMID:28492532|PMID:9536098
1311306	Rsph3	radial spoke head 3	gene	DOID:1115	sarcoma		ISO	RGD:1322691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311306	Rsph3	radial spoke head 3	gene	DOID:1909	melanoma		ISO	RGD:1322691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311306	Rsph3	radial spoke head 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311306	Rsph3	radial spoke head 3	gene	DOID:4362	cervical cancer		ISO	RGD:1322691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1311306	Rsph3	radial spoke head 3	gene	DOID:630	genetic disease		ISO	RGD:1322691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311306	Rsph3	radial spoke head 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311306	Rsph3	radial spoke head 3	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1322691	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:25741868|PMID:28492532
1311307	Pxdc1	PX domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311307	Pxdc1	PX domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311307	Pxdc1	PX domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311307	Pxdc1	PX domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311307	Pxdc1	PX domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311308	Tars3	threonyl-tRNA synthetase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311308	Tars3	threonyl-tRNA synthetase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311308	Tars3	threonyl-tRNA synthetase 3	gene	DOID:1115	sarcoma		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311308	Tars3	threonyl-tRNA synthetase 3	gene	DOID:1324	lung cancer		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311308	Tars3	threonyl-tRNA synthetase 3	gene	DOID:1909	melanoma		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311308	Tars3	threonyl-tRNA synthetase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311308	Tars3	threonyl-tRNA synthetase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351710	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311308	Tars3	threonyl-tRNA synthetase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1351710	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311308	Tars3	threonyl-tRNA synthetase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311308	Tars3	threonyl-tRNA synthetase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311308	Tars3	threonyl-tRNA synthetase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:0061146	Pan-Chung-Bellen syndrome		ISO	RGD:1352555	D	RGD:7240710	20250305	OMIM			
1311309	Fryl	FRY like transcription coactivator	gene	DOID:0061146	Pan-Chung-Bellen syndrome		ISO	RGD:1352555	D	RGD:8554872	20250304	ClinVar		ClinVar Annotator: match by term: PAN-CHUNG-BELLEN SYNDROME | ClinVar Annotator: match by term: Pan-Chung-Bellen syndrome	PMID:25741868|PMID:38479391
1311309	Fryl	FRY like transcription coactivator	gene	DOID:0110214	cleft soft palate		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft soft palate	PMID:25741868
1311309	Fryl	FRY like transcription coactivator	gene	DOID:10534	stomach cancer		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:1115	sarcoma		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:1324	lung cancer		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1311309	Fryl	FRY like transcription coactivator	gene	DOID:1909	melanoma		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:2394	ovarian cancer		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:3070	high grade glioma		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:4362	cervical cancer		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:5041	esophageal cancer		ISO	RGD:1352555	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:674	cleft palate		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1311309	Fryl	FRY like transcription coactivator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:9001031	Retrognathia		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1311309	Fryl	FRY like transcription coactivator	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352555	D	RGD:8554872	20240924	ClinVar		ClinVar Annotator: match by term: FRYL-related developmental disorder	PMID:25741868|PMID:38479391
1311309	Fryl	FRY like transcription coactivator	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1311309	Fryl	FRY like transcription coactivator	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1311309	Fryl	FRY like transcription coactivator	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1322695	D	RGD:11561325|PMID:27506785	20250327	RGD		mRNA:increased expression:nucleus accumbens (mouse)	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:25741868
1311309	Fryl	FRY like transcription coactivator	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311309	Fryl	FRY like transcription coactivator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311309	Fryl	FRY like transcription coactivator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311310	Smdt1	single-pass membrane protein with aspartate-rich tail 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311310	Smdt1	single-pass membrane protein with aspartate-rich tail 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311310	Smdt1	single-pass membrane protein with aspartate-rich tail 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311310	Smdt1	single-pass membrane protein with aspartate-rich tail 1	gene	DOID:1115	sarcoma		ISO	RGD:1602445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311310	Smdt1	single-pass membrane protein with aspartate-rich tail 1	gene	DOID:1909	melanoma		ISO	RGD:1602445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311310	Smdt1	single-pass membrane protein with aspartate-rich tail 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311311	Slc25a16	solute carrier family 25 member 16	gene	DOID:0060207	amyotrophic lateral sclerosis type 16		ISO	RGD:1322697	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16	
1311311	Slc25a16	solute carrier family 25 member 16	gene	DOID:0080683	nonsyndromic congenital nail disorder		ISO	RGD:1322697	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nail disorder, nonsyndromic congenital	
1311311	Slc25a16	solute carrier family 25 member 16	gene	DOID:1909	melanoma		ISO	RGD:1322697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311311	Slc25a16	solute carrier family 25 member 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311311	Slc25a16	solute carrier family 25 member 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311311	Slc25a16	solute carrier family 25 member 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311311	Slc25a16	solute carrier family 25 member 16	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:1322697	D	RGD:8554872	20160616	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:26350515
1311311	Slc25a16	solute carrier family 25 member 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:0070723	dyschromatosis, ichthyosis, deafness, and atopic disease		ISO	RGD:35315983	D	RGD:7240710	20260603	OMIM			
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:0070723	dyschromatosis, ichthyosis, deafness, and atopic disease		ISO	RGD:35315983	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dyschromatosis, ichthyosis, deafness, and atopic disease	
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:0110588	autosomal dominant nonsyndromic deafness 67		ISO	RGD:35315983	D	RGD:7240710	20200708	OMIM			
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:0110588	autosomal dominant nonsyndromic deafness 67		ISO	RGD:35315983	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 67 | ClinVar Annotator: match by term: Deafness, autosomal dominant 67 | ClinVar Annotator: match by term: OSBPL2-related condition	PMID:24033266|PMID:25741868|PMID:28492532
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:28492532
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:1115	sarcoma		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:25741868|PMID:28492532
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:1324	lung cancer		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:28492532
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:35315983	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:1824	status epilepticus	treatment	IEP		D	RGD:41404657|PMID:33132826	20210129	RGD			
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:3070	high grade glioma		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:3275	thymoma		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868|PMID:28492532
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:24033266|PMID:25741868|PMID:28492532
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:24033266|PMID:25741868|PMID:28492532
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:35315983	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:28492532
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:630	genetic disease		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311312	Osbpl2	oxysterol binding protein-like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:35315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:28492532
1311313	Mthfd2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311313	Mthfd2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	gene	DOID:0080600	COVID-19		ISO	RGD:1322701	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311313	Mthfd2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311313	Mthfd2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311313	Mthfd2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	gene	DOID:4362	cervical cancer		ISO	RGD:1322701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311313	Mthfd2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	gene	DOID:5041	esophageal cancer		ISO	RGD:1322701	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311313	Mthfd2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311313	Mthfd2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	gene	DOID:6000	congestive heart failure		ISO	RGD:1322701	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
1311313	Mthfd2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	gene	DOID:684	hepatocellular carcinoma		IEP		D	RGD:2302305|PMID:3878730	20081211	RGD		mRNA:increased expression:liver	
1311313	Mthfd2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311313	Mthfd2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1322701	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24688052
1311313	Mthfd2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311313	Mthfd2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311313	Mthfd2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311314	Amz1	archaelysin family metallopeptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311314	Amz1	archaelysin family metallopeptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311314	Amz1	archaelysin family metallopeptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311314	Amz1	archaelysin family metallopeptidase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311314	Amz1	archaelysin family metallopeptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311314	Amz1	archaelysin family metallopeptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311314	Amz1	archaelysin family metallopeptidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605859	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311314	Amz1	archaelysin family metallopeptidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311314	Amz1	archaelysin family metallopeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311314	Amz1	archaelysin family metallopeptidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311315	Frzb	frizzled-related protein	gene	DOID:0110320	hypertrophic cardiomyopathy 14		ISO	RGD:1322704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14	PMID:25741868
1311315	Frzb	frizzled-related protein	gene	DOID:10534	stomach cancer		ISO	RGD:1322704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311315	Frzb	frizzled-related protein	gene	DOID:1115	sarcoma		ISO	RGD:1322704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311315	Frzb	frizzled-related protein	gene	DOID:1324	lung cancer		ISO	RGD:1322704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311315	Frzb	frizzled-related protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322704	D	RGD:32716395|PMID:27623992	20200629	RGD		protein:decreased expression:lung (human)	
1311315	Frzb	frizzled-related protein	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1322704	D	RGD:32716395|PMID:27623992	20200629	RGD		DNA:hypermethylation:exon 1	
1311315	Frzb	frizzled-related protein	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1322704	D	RGD:9068941	20200702	RGD		mRNA:decreased expression:lung (human)	PMID:27623992|REF_RGD_ID:32716395
1311315	Frzb	frizzled-related protein	gene	DOID:4362	cervical cancer		ISO	RGD:1322704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311315	Frzb	frizzled-related protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311315	Frzb	frizzled-related protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311315	Frzb	frizzled-related protein	gene	DOID:8398	osteoarthritis		ISO	RGD:1322704	D	RGD:11554173	20210707	CTD		CTD Direct Evidence: marker/mechanism	
1311315	Frzb	frizzled-related protein	gene	DOID:8398	osteoarthritis		ISO	RGD:1322704	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Osteoarthritis | ClinVar Annotator: match by term: Osteoarthritis susceptibility 1	PMID:25741868
1311315	Frzb	frizzled-related protein	gene	DOID:8398	osteoarthritis	susceptibility	ISO	RGD:1322704	D	RGD:7240710	20190502	OMIM			
1311315	Frzb	frizzled-related protein	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1322704	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO	
1311315	Frzb	frizzled-related protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311315	Frzb	frizzled-related protein	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1322704	D	RGD:32716394|PMID:28240822	20200629	RGD		protein, decreased expression:skeletal muscle, serum (human)	
1311316	Sike1	suppressor of IKBKE 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311316	Sike1	suppressor of IKBKE 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311316	Sike1	suppressor of IKBKE 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311316	Sike1	suppressor of IKBKE 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311316	Sike1	suppressor of IKBKE 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602207	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311316	Sike1	suppressor of IKBKE 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311316	Sike1	suppressor of IKBKE 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311316	Sike1	suppressor of IKBKE 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311316	Sike1	suppressor of IKBKE 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311317	Hhipl2	HHIP like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311317	Hhipl2	HHIP like 2	gene	DOID:1909	melanoma		ISO	RGD:1605638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311317	Hhipl2	HHIP like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311317	Hhipl2	HHIP like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311321	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311321	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311321	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:10534	stomach cancer		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311321	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311321	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:1324	lung cancer		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311321	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:1909	melanoma		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311321	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311321	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322711	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311321	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311321	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322711	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28104805
1311321	Ythdf2	YTH N6-methyladenosine RNA binding protein F2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:1115	sarcoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:1324	lung cancer		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:1909	melanoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:2394	ovarian cancer		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:3275	thymoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:4362	cervical cancer		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:5041	esophageal cancer		ISO	RGD:1322714	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311323	Nckipsd	NCK interacting protein with SH3 domain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311324	Tmem214	transmembrane protein 214	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311324	Tmem214	transmembrane protein 214	gene	DOID:1115	sarcoma		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311324	Tmem214	transmembrane protein 214	gene	DOID:12849	autistic disorder		ISO	RGD:1606543	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism	
1311324	Tmem214	transmembrane protein 214	gene	DOID:1324	lung cancer		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311324	Tmem214	transmembrane protein 214	gene	DOID:1909	melanoma		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311324	Tmem214	transmembrane protein 214	gene	DOID:4362	cervical cancer		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311324	Tmem214	transmembrane protein 214	gene	DOID:5041	esophageal cancer		ISO	RGD:1606543	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311324	Tmem214	transmembrane protein 214	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311324	Tmem214	transmembrane protein 214	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311324	Tmem214	transmembrane protein 214	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311324	Tmem214	transmembrane protein 214	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311324	Tmem214	transmembrane protein 214	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311326	Klhl28	kelch-like family member 28	gene	DOID:1324	lung cancer		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311326	Klhl28	kelch-like family member 28	gene	DOID:1909	melanoma		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311326	Klhl28	kelch-like family member 28	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311326	Klhl28	kelch-like family member 28	gene	DOID:4362	cervical cancer		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311326	Klhl28	kelch-like family member 28	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311326	Klhl28	kelch-like family member 28	gene	DOID:5041	esophageal cancer		ISO	RGD:1322718	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311326	Klhl28	kelch-like family member 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311326	Klhl28	kelch-like family member 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311327	Acyp1	acylphosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311327	Acyp1	acylphosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311327	Acyp1	acylphosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311329	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322723	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311329	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:0080162	lupus nephritis		ISO	RGD:1322723	D	RGD:7175260|PMID:22279542	20140715	RGD		protein:increased expression:kidney	
1311329	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322723	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311329	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:1324	lung cancer		ISO	RGD:1322723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311329	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1322723	D	RGD:7175260|PMID:22279542	20140715	RGD		protein:increased expression:kidney	
1311329	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311329	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1322723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311329	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311329	Otub1	OTU deubiquitinase, ubiquitin aldehyde binding 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1322723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:0061051	immunodeficiency 80		ISO	RGD:1322725	D	RGD:7240710	20210526	OMIM			
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:0061051	immunodeficiency 80		ISO	RGD:1322725	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 80 with or without congenital cardiomyopathy	PMID:25741868
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:0080600	COVID-19		ISO	RGD:1322725	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:10534	stomach cancer		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:1115	sarcoma		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:1324	lung cancer		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:3070	high grade glioma		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:3275	thymoma		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:4362	cervical cancer		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1322725	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322725	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311330	Mcm10	minichromosome maintenance 10 replication initiation factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311331	Hs1bp3	HCLS1 binding protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1602467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311331	Hs1bp3	HCLS1 binding protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311331	Hs1bp3	HCLS1 binding protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1602467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311331	Hs1bp3	HCLS1 binding protein 3	gene	DOID:1909	melanoma		ISO	RGD:1602467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311331	Hs1bp3	HCLS1 binding protein 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1602467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311331	Hs1bp3	HCLS1 binding protein 3	gene	DOID:3275	thymoma		ISO	RGD:1602467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311331	Hs1bp3	HCLS1 binding protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602467	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311331	Hs1bp3	HCLS1 binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311331	Hs1bp3	HCLS1 binding protein 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602467	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311331	Hs1bp3	HCLS1 binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311331	Hs1bp3	HCLS1 binding protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602467	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311332	Taf5	TATA-box binding protein associated factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311332	Taf5	TATA-box binding protein associated factor 5	gene	DOID:10534	stomach cancer		ISO	RGD:1322729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311332	Taf5	TATA-box binding protein associated factor 5	gene	DOID:3275	thymoma		ISO	RGD:1322729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311332	Taf5	TATA-box binding protein associated factor 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311332	Taf5	TATA-box binding protein associated factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311332	Taf5	TATA-box binding protein associated factor 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1322729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:0080600	COVID-19		ISO	RGD:1322731	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:10754	otitis media		ISO	RGD:9009488	D	RGD:9068941	20200609	RGD			PMID:20433028|REF_RGD_ID:11553910
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:1749	squamous cell carcinoma		IEP		D	RGD:2316582|PMID:17985342	20100217	RGD		protein:increased expression:tongue, carcinoma, stroma (rat)	
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:1909	melanoma		ISO	RGD:1322731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:1936	atherosclerosis		ISO	RGD:1322731	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16698924
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:2841	asthma		IEP		D	RGD:2316607|PMID:15715933	20100217	RGD		mRNA:increased expression:lung, cerebral cortex (rat)	
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:2841	asthma		ISO	RGD:1322731	D	RGD:626168266|PMID:12765316	20250829	RGD		mRNA:increased expression:blood, neutrophil	
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:299	adenocarcinoma		IEP		D	RGD:2316606|PMID:12865451	20100217	RGD		protein:increased expression:esophagus (rat)	
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:5041	esophageal cancer		ISO	RGD:1322731	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322731	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1322731	D	RGD:626168259|PMID:29067980	20250828	RGD		mRNA:increased expression:blood	
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311333	Lta4h	leukotriene A4 hydrolase	gene	DOID:9256	colorectal cancer		ISO	RGD:1322731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311334	Wdr81	WD repeat domain 81	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1311334	Wdr81	WD repeat domain 81	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311334	Wdr81	WD repeat domain 81	gene	DOID:0050453	lissencephaly		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:25741868|PMID:28097321|PMID:28940097
1311334	Wdr81	WD repeat domain 81	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1606736	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868|PMID:26437881|PMID:27848944
1311334	Wdr81	WD repeat domain 81	gene	DOID:0070557	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2		ISO	RGD:1606736	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311334	Wdr81	WD repeat domain 81	gene	DOID:0070557	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2		ISO	RGD:1606736	D	RGD:7240710	20130731	OMIM			
1311334	Wdr81	WD repeat domain 81	gene	DOID:0070557	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2		ISO	RGD:1606736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2	PMID:25741868
1311334	Wdr81	WD repeat domain 81	gene	DOID:0070684	congenital hydrocephalus 3		ISO	RGD:1606736	D	RGD:7240710	20190315	OMIM			
1311334	Wdr81	WD repeat domain 81	gene	DOID:0070684	congenital hydrocephalus 3		ISO	RGD:1606736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES | ClinVar Annotator: match by term: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Hydrocephalus, congenital, 3, with brain anomalies | ClinVar Annotator: match by term: WDR81-related condition	PMID:21885617|PMID:25741868|PMID:28492532|PMID:28969387
1311334	Wdr81	WD repeat domain 81	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1606736	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Exstrophy-epispadias complex	PMID:25741868
1311334	Wdr81	WD repeat domain 81	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1606736	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
1311334	Wdr81	WD repeat domain 81	gene	DOID:1059	intellectual disability		ISO	RGD:1606736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:21885617|PMID:25741868
1311334	Wdr81	WD repeat domain 81	gene	DOID:10907	microcephaly		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28097321|PMID:28940097
1311334	Wdr81	WD repeat domain 81	gene	DOID:1115	sarcoma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311334	Wdr81	WD repeat domain 81	gene	DOID:11383	cryptorchidism		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:28097321|PMID:28940097
1311334	Wdr81	WD repeat domain 81	gene	DOID:12449	aplastic anemia		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	PMID:16371500|PMID:25741868
1311334	Wdr81	WD repeat domain 81	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
1311334	Wdr81	WD repeat domain 81	gene	DOID:1324	lung cancer		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311334	Wdr81	WD repeat domain 81	gene	DOID:1596	depressive disorder		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1311334	Wdr81	WD repeat domain 81	gene	DOID:1826	epilepsy		ISO	RGD:1606736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:21885617|PMID:25741868
1311334	Wdr81	WD repeat domain 81	gene	DOID:1827	generalized epilepsy		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:32581362
1311334	Wdr81	WD repeat domain 81	gene	DOID:1909	melanoma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311334	Wdr81	WD repeat domain 81	gene	DOID:2030	anxiety disorder		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1311334	Wdr81	WD repeat domain 81	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311334	Wdr81	WD repeat domain 81	gene	DOID:2841	asthma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1311334	Wdr81	WD repeat domain 81	gene	DOID:3275	thymoma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311334	Wdr81	WD repeat domain 81	gene	DOID:4362	cervical cancer		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311334	Wdr81	WD repeat domain 81	gene	DOID:4626	hydranencephaly		ISO	RGD:1606736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydranencephaly	PMID:25741868
1311334	Wdr81	WD repeat domain 81	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311334	Wdr81	WD repeat domain 81	gene	DOID:5723	optic atrophy		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28097321|PMID:28940097
1311334	Wdr81	WD repeat domain 81	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311334	Wdr81	WD repeat domain 81	gene	DOID:630	genetic disease		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27528516|PMID:28097321|PMID:28492532|PMID:28940097|PMID:31785789
1311334	Wdr81	WD repeat domain 81	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1311334	Wdr81	WD repeat domain 81	gene	DOID:9001510	Funnel Chest		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1311334	Wdr81	WD repeat domain 81	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:28097321|PMID:28940097
1311334	Wdr81	WD repeat domain 81	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1311334	Wdr81	WD repeat domain 81	gene	DOID:9003507	Premature Birth		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1311334	Wdr81	WD repeat domain 81	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1311334	Wdr81	WD repeat domain 81	gene	DOID:9004866	Ataxia		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:16371500|PMID:25741868
1311334	Wdr81	WD repeat domain 81	gene	DOID:9005077	Joint Instability		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1311334	Wdr81	WD repeat domain 81	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1311334	Wdr81	WD repeat domain 81	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
1311334	Wdr81	WD repeat domain 81	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311334	Wdr81	WD repeat domain 81	gene	DOID:9007661	Dwarfism		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28097321|PMID:28940097
1311334	Wdr81	WD repeat domain 81	gene	DOID:9008023	Memory Disorders		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
1311334	Wdr81	WD repeat domain 81	gene	DOID:9008539	Perinatal Death		ISO	RGD:1606736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal death	PMID:25741868
1311334	Wdr81	WD repeat domain 81	gene	DOID:9970	obesity		ISO	RGD:1606736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy		ISO	RGD:1322734	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy		ISO	RGD:1322734	D	RGD:1580594|PMID:16606917	19990101	RGD		DNA:frameshift mutations, missense mutation:cds:multiple (human)	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy		ISO	RGD:1322734	D	RGD:7240710	20130221	OMIM			
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy | ClinVar Annotator: match by term: Andermann Syndrome | ClinVar Annotator: match by term: Andermann syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE CORPUS CALLOSUM | ClinVar Annotator: match by term: Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum	PMID:12368912|PMID:12838516|PMID:16199547|PMID:1660691|PMID:16606917|PMID:17576681|PMID:17893295|PMID:18414213|PMID:21628467|PMID:23593405|PMID:25741868|PMID:26392352|PMID:27717089|PMID:28492532|PMID:30038111|PMID:31439721|PMID:32709422|PMID:34706912|PMID:37575640|PMID:9536098
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy		ISS	RGD:1322735	D	RGD:13592920	20230718	MouseDO		OMIM:218000	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:1059	intellectual disability		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:16606917|PMID:20020398|PMID:28492532
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:1115	sarcoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:1324	lung cancer		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:1909	melanoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:2477	motor peripheral neuropathy		ISS	RGD:1322735	D	RGD:13592920	20180607	MouseDO			
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:2841	asthma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:3070	high grade glioma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:3275	thymoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:480	movement disease		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1322734	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1322734	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21245421
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:630	genetic disease		ISO	RGD:1322734	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16606917|PMID:19665974|PMID:24043619|PMID:25741868|PMID:28492532|PMID:28814402|PMID:31439721|PMID:33199848|PMID:33323309
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:767	muscular atrophy		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:870	neuropathy		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:9000343	Vision Disorders		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:9000899	Charcot-Marie-Tooth Disease Axonal Type 2II		ISO	RGD:1322734	D	RGD:7240710	20221012	OMIM			
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:9000899	Charcot-Marie-Tooth Disease Axonal Type 2II		ISO	RGD:1322734	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2II | ClinVar Annotator: match by term: SLC12A6-related condition	PMID:12368912|PMID:16606917|PMID:18566107|PMID:21628467|PMID:25741868|PMID:28492532|PMID:31439721|PMID:33323309|PMID:34611884
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:12368912|PMID:16606917|PMID:25741868|PMID:28492532
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:9003133	Hypertelorism		ISO	RGD:1322734	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:12368912|PMID:16606917|PMID:25741868|PMID:28492532
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1311335	Slc12a6	solute carrier family 12, member 6	gene	DOID:9834	hyperopia		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:0112244	alopecia, neurologic defects, and endocrinopathy syndrome		ISO	RGD:1322736	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:0112244	alopecia, neurologic defects, and endocrinopathy syndrome		ISO	RGD:1322736	D	RGD:7240710	20130221	OMIM			
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:0112244	alopecia, neurologic defects, and endocrinopathy syndrome		ISO	RGD:1322736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANE syndrome | ClinVar Annotator: match by term: RBM28-related condition	PMID:25741868|PMID:28492532
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:10534	stomach cancer		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:10907	microcephaly		ISO	RGD:1322736	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:1324	lung cancer		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:3275	thymoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:4362	cervical cancer		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:6039	uveal melanoma		ISO	RGD:1322736	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311336	Rbm28	RNA binding motif protein 28	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult	
1311337	Pigc	phosphatidylinositol glycan anchor biosynthesis, class C	gene	DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16		ISO	RGD:1322738	D	RGD:7240710	20190315	OMIM			
1311339	Kpna3	karyopherin subunit alpha 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311339	Kpna3	karyopherin subunit alpha 3	gene	DOID:0070457	hereditary spastic paraplegia 88		ISO	RGD:1322742	D	RGD:7240710	20221123	OMIM			
1311339	Kpna3	karyopherin subunit alpha 3	gene	DOID:0070457	hereditary spastic paraplegia 88		ISO	RGD:1322742	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 88, autosomal dominant	PMID:25741868|PMID:34564892
1311339	Kpna3	karyopherin subunit alpha 3	gene	DOID:1909	melanoma		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311339	Kpna3	karyopherin subunit alpha 3	gene	DOID:4362	cervical cancer		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311339	Kpna3	karyopherin subunit alpha 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311339	Kpna3	karyopherin subunit alpha 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322742	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311339	Kpna3	karyopherin subunit alpha 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311339	Kpna3	karyopherin subunit alpha 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311339	Kpna3	karyopherin subunit alpha 3	gene	DOID:630	genetic disease		ISO	RGD:1322742	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311339	Kpna3	karyopherin subunit alpha 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311339	Kpna3	karyopherin subunit alpha 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311339	Kpna3	karyopherin subunit alpha 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311339	Kpna3	karyopherin subunit alpha 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0050765	neuroacanthocytosis		ISO	RGD:1312307	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0050765	neuroacanthocytosis		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER | ClinVar Annotator: match by term: Acanthocytosis with neurologic disorder	PMID:12404112|PMID:25741868|PMID:26467025|PMID:26870756|PMID:28492532|PMID:33305042
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0050766	choreaacanthocytosis		ISO	RGD:1312307	D	RGD:7240710	20180725	OMIM			
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0050766	choreaacanthocytosis		ISO	RGD:1312307	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHOREOACANTHOCYTOSIS | ClinVar Annotator: match by term: Choreaacanthocytosis | ClinVar Annotator: match by term: Choreoacanthocytosis | ClinVar Annotator: match by term: VPS13A-related condition | ClinVar Annotator: match by term: chorea-acanthocytosis	PMID:11381253|PMID:12404112|PMID:15293285|PMID:15824261|PMID:15918062|PMID:16199547|PMID:17516458|PMID:17673232|PMID:17998451|PMID:20301561|PMID:21145924|PMID:21598378|PMID:21951684|PMID:22038564|PMID:22777538|PMID:23726790|PMID:23746940|PMID:24033266|PMID:24974674|PMID:25733999|PMID:25741868|PMID:26467025|PMID:26768680|PMID:26870756|PMID:27400454|PMID:28003435|PMID:28446873|PMID:28492532|PMID:29913018|PMID:31192303|PMID:31704285|PMID:31969655|PMID:32088470|PMID:32131761|PMID:32606538|PMID:3322006|PMID:33305042|PMID:33652783|PMID:33679298|PMID:35707035|PMID:35926480|PMID:38519717|PMID:39324427|PMID:40627817
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0050766	choreaacanthocytosis		ISS	RGD:1553666	D	RGD:13592920	20230718	MouseDO		OMIM:200150	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1312307	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:26467025|PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0080855	Parkinsonism		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder | ClinVar Annotator: match by term: Parkinsonism	PMID:25741868
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:0111428	essential tremor 1		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoid leukemia	PMID:25741868
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:10534	stomach cancer		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:1115	sarcoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:12859	choreatic disease		ISO	RGD:1312307	D	RGD:1599747|PMID:11381253	20070213	RGD		choreoacanthocytosis, OMIM:200150	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:12859	choreatic disease		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:1324	lung cancer		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:1826	epilepsy		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:1909	melanoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:1969	cerebral palsy		ISO	RGD:1312307	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:26467025|PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:2394	ovarian cancer		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:3070	high grade glioma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:3275	thymoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:423	myopathy		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:4362	cervical cancer		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:480	movement disease		ISO	RGD:1312307	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:26467025|PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:5041	esophageal cancer		ISO	RGD:1312307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:543	dystonia		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:630	genetic disease		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:8725	vascular dementia		ISO	RGD:1312307	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9000495	Tremor		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9001480	Muscle Rigidity		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cogwheel rigidity	PMID:25741868
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive decline | ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9003132	Sialorrhea		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312307	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:26467025|PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1312307	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:12404112|PMID:16199547|PMID:21598378|PMID:25741868|PMID:28492532|PMID:31543803
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9009133	acanthocytosis		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthocytosis	PMID:25741868
1311340	Vps13a	vacuolar protein sorting 13 homolog A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:10534	stomach cancer		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:1115	sarcoma		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1322745	D	RGD:1600653|PMID:12417987	20070322	RGD		North American Indian childhood cirrhosis, OMIM:604901, R565W	
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:1324	lung cancer		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:13580	cholestasis		ISO	RGD:1322745	D	RGD:1600653|PMID:12417987	20070322	RGD		North American Indian childhood cirrhosis, OMIM:604901, R565W	
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:1909	melanoma		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:3275	thymoma		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:4362	cervical cancer		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:5041	esophageal cancer		ISO	RGD:1322745	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:9006899	North American Indian Childhood Cirrhosis		ISO	RGD:1322745	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis	PMID:12417987|PMID:16225863|PMID:17576681|PMID:19732766|PMID:20385600|PMID:22916032|PMID:24123366|PMID:25741868|PMID:28492532|PMID:9536098
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1311341	Utp4	UTP4 small subunit processome component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1311342	Cdc26	cell division cycle 26	gene	DOID:1115	sarcoma		ISO	RGD:1322746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311342	Cdc26	cell division cycle 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311343	C10h5orf47	similar to human chromosome 5 open reading frame 47	gene	DOID:3275	thymoma		ISO	RGD:2298818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311344	Dzank1	double zinc ribbon and ankyrin repeat domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311344	Dzank1	double zinc ribbon and ankyrin repeat domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311344	Dzank1	double zinc ribbon and ankyrin repeat domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311344	Dzank1	double zinc ribbon and ankyrin repeat domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1322749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311344	Dzank1	double zinc ribbon and ankyrin repeat domains 1	gene	DOID:1909	melanoma		ISO	RGD:1322749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311344	Dzank1	double zinc ribbon and ankyrin repeat domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311344	Dzank1	double zinc ribbon and ankyrin repeat domains 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311344	Dzank1	double zinc ribbon and ankyrin repeat domains 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311344	Dzank1	double zinc ribbon and ankyrin repeat domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311344	Dzank1	double zinc ribbon and ankyrin repeat domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311344	Dzank1	double zinc ribbon and ankyrin repeat domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311344	Dzank1	double zinc ribbon and ankyrin repeat domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311345	Qng1	Q-nucleotide N-glycosylase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311345	Qng1	Q-nucleotide N-glycosylase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311345	Qng1	Q-nucleotide N-glycosylase 1	gene	DOID:3275	thymoma		ISO	RGD:1322751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311345	Qng1	Q-nucleotide N-glycosylase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311345	Qng1	Q-nucleotide N-glycosylase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:0080138	multiple congenital anomalies-hypotonia-seizures syndrome 1		ISO	RGD:1322753	D	RGD:7240710	20140911	OMIM			
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:0080138	multiple congenital anomalies-hypotonia-seizures syndrome 1		ISO	RGD:1322753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1	PMID:16199547|PMID:17576681|PMID:21493957|PMID:24033266|PMID:24253414|PMID:24852103|PMID:25590979|PMID:25640679|PMID:25741868|PMID:25920937|PMID:26394714|PMID:26419326|PMID:26467025|PMID:26539891|PMID:26633542|PMID:26964041|PMID:27038415|PMID:27891564|PMID:28273706|PMID:28327575|PMID:28492532|PMID:29096607|PMID:29330547|PMID:30293990|PMID:30665423|PMID:30709774|PMID:31428121|PMID:31440721|PMID:31827275|PMID:32064623|PMID:32220244|PMID:33193741|PMID:33502061|PMID:33528536|PMID:33619735|PMID:33763700|PMID:34051595|PMID:34426522|PMID:34782754|PMID:34906502|PMID:34930662|PMID:34958143|PMID:351792|PMID:35179230|PMID:35322241|PMID:35468813|PMID:36322149|PMID:38256219|PMID:38280421|PMID:38456468|PMID:38959600|PMID:9536098
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:0080503	multiple congenital anomalies-hypotonia-seizures syndrome		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome	PMID:16199547|PMID:24033266|PMID:24253414|PMID:25741868|PMID:27038415|PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:10488	imperforate anus		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868|PMID:27038415|PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:1059	intellectual disability		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:1115	sarcoma		ISO	RGD:1322753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:12849	autistic disorder		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:24253414|PMID:25741868|PMID:27038415|PMID:28492532|PMID:31428121
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:12859	choreatic disease		ISO	RGD:12180289	D	RGD:9068941	20250116	OMIA		Dyskinesia, paroxysmal, PIGN-related	PMID:15474685|PMID:27891564|PMID:28703446|PMID:33769611|PMID:36086931|PMID:38003185|PMID:39119350
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:1324	lung cancer		ISO	RGD:1322753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:1824	status epilepticus		ISO	RGD:1322753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:16199547|PMID:24253414|PMID:25741868|PMID:27038415|PMID:28492532|PMID:34051595|PMID:38959600
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:1826	epilepsy		ISO	RGD:1322753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:16199547|PMID:17576681|PMID:24253414|PMID:25741868|PMID:26633542|PMID:27038415|PMID:28492532|PMID:29096607|PMID:30665423|PMID:31428121|PMID:33193741|PMID:33502061|PMID:33763700|PMID:34051595|PMID:35468813|PMID:38959600|PMID:9536098
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:1827	generalized epilepsy		ISO	RGD:1322753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:16199547|PMID:24253414|PMID:25741868|PMID:27038415|PMID:28492532|PMID:30293990|PMID:33619735|PMID:34051595|PMID:34782754|PMID:351792|PMID:35179230|PMID:38959600
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:1909	melanoma		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:3275	thymoma		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1322753	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:4362	cervical cancer		ISO	RGD:1322753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:4621	holoprosencephaly		ISS	RGD:1322754	D	RGD:13592920	20191010	MouseDO			
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:5041	esophageal cancer		ISO	RGD:1322753	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:535	sleep disorder		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:24253414|PMID:25741868|PMID:27038415|PMID:28492532|PMID:31428121
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:5419	schizophrenia		ISO	RGD:1322753	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:543	dystonia		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532|PMID:30293990|PMID:33619735|PMID:34782754|PMID:351792|PMID:35179230
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:6039	uveal melanoma		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:630	genetic disease		ISO	RGD:1322753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:24033266|PMID:24253414|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26964041|PMID:27038415|PMID:28492532|PMID:29096607|PMID:30665423|PMID:32220244|PMID:33528536|PMID:33763700|PMID:35179230|PMID:35322241|PMID:35468813|PMID:36322149|PMID:36719165|PMID:38256219|PMID:38456468
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	PMID:25741868|PMID:27038415|PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:8488	polyhydramnios		ISO	RGD:1322753	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532|PMID:30293990|PMID:33619735|PMID:34782754|PMID:351792|PMID:35179230
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9000343	Vision Disorders		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:24253414|PMID:25741868|PMID:27038415|PMID:28492532|PMID:31428121
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9000972	Fever		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868|PMID:26633542|PMID:28492532|PMID:29096607|PMID:30665423|PMID:33763700|PMID:35468813
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9001510	Funnel Chest		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:24253414|PMID:27038415|PMID:28492532|PMID:30660939
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9003133	Hypertelorism		ISO	RGD:1322753	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:17576681|PMID:24253414|PMID:25741868|PMID:28492532|PMID:33193741|PMID:33502061|PMID:9536098
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:24253414|PMID:25741868|PMID:27038415|PMID:28492532|PMID:31428121
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:17576681|PMID:24253414|PMID:25741868|PMID:27038415|PMID:28492532|PMID:30293990|PMID:31428121|PMID:32860008|PMID:33193741|PMID:33502061|PMID:33619735|PMID:34782754|PMID:351792|PMID:35179230|PMID:9536098
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322753	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:17576681|PMID:24253414|PMID:25741868|PMID:27038415|PMID:28492532|PMID:30293990|PMID:31428121|PMID:33193741|PMID:33502061|PMID:33619735|PMID:34782754|PMID:351792|PMID:35179230|PMID:9536098
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1322753	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9007363	Bronchogenic Cyst		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchogenic cyst	PMID:25741868|PMID:27038415|PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9007661	Dwarfism		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:24253414|PMID:25741868|PMID:27038415|PMID:28492532|PMID:30293990|PMID:31428121|PMID:33619735|PMID:34051595|PMID:34782754|PMID:351792|PMID:35179230|PMID:38959600
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9008675	Dyskinesias		ISO	RGD:1322753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:16199547|PMID:24253414|PMID:25741868|PMID:27038415|PMID:28492532|PMID:34051595|PMID:38959600
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868|PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9256	colorectal cancer		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:25741868|PMID:28492532
1311346	Pign	phosphatidylinositol glycan anchor biosynthesis, class N	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1322753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868|PMID:27038415|PMID:28492532
1311347	Pipox	pipecolic acid and sarcosine oxidase	gene	DOID:1324	lung cancer		ISO	RGD:1322755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311347	Pipox	pipecolic acid and sarcosine oxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311347	Pipox	pipecolic acid and sarcosine oxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311347	Pipox	pipecolic acid and sarcosine oxidase	gene	DOID:906	peroxisomal disease		ISO	RGD:1322755	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10642506
1311349	Iqce	IQ motif containing E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311349	Iqce	IQ motif containing E	gene	DOID:10534	stomach cancer		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311349	Iqce	IQ motif containing E	gene	DOID:11830	myopia		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1311349	Iqce	IQ motif containing E	gene	DOID:1324	lung cancer		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311349	Iqce	IQ motif containing E	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311349	Iqce	IQ motif containing E	gene	DOID:3275	thymoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311349	Iqce	IQ motif containing E	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311349	Iqce	IQ motif containing E	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311349	Iqce	IQ motif containing E	gene	DOID:5041	esophageal cancer		ISO	RGD:1350439	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311349	Iqce	IQ motif containing E	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311349	Iqce	IQ motif containing E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311349	Iqce	IQ motif containing E	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311349	Iqce	IQ motif containing E	gene	DOID:630	genetic disease		ISO	RGD:1350439	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311349	Iqce	IQ motif containing E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311349	Iqce	IQ motif containing E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311349	Iqce	IQ motif containing E	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311349	Iqce	IQ motif containing E	gene	DOID:9009200	Postaxial Polydactyly, Type A7		ISO	RGD:1350439	D	RGD:7240710	20190315	OMIM			
1311349	Iqce	IQ motif containing E	gene	DOID:9009200	Postaxial Polydactyly, Type A7		ISO	RGD:1350439	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: IQCE-related condition | ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A7 | ClinVar Annotator: match by term: Polydactyly, postaxial, type a7	PMID:25741868|PMID:28488682|PMID:28492532|PMID:31549751|PMID:35599849
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:10534	stomach cancer		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:1115	sarcoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:1324	lung cancer		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:1909	melanoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:4362	cervical cancer		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322392	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311350	Prune2	prune homolog 2 with BCH domain	gene	DOID:9256	colorectal cancer		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311354	Ndufb6	NADH:ubiquinone oxidoreductase subunit B6	gene	DOID:4362	cervical cancer		ISO	RGD:1322768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311354	Ndufb6	NADH:ubiquinone oxidoreductase subunit B6	gene	DOID:9006599	Hypertriglyceridemia		IEP		D	RGD:13801195|PMID:20729114	20181105	RGD		associated with obesity	
1311354	Ndufb6	NADH:ubiquinone oxidoreductase subunit B6	gene	DOID:9970	obesity		IEP		D	RGD:13822707|PMID:20559011	20181106	RGD		mRNA:decreased expression:epididymal fat pad	
1311355	Phpt1	phosphohistidine phosphatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311355	Phpt1	phosphohistidine phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311355	Phpt1	phosphohistidine phosphatase 1	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1322769	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1311355	Phpt1	phosphohistidine phosphatase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311355	Phpt1	phosphohistidine phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311355	Phpt1	phosphohistidine phosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311355	Phpt1	phosphohistidine phosphatase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311356	Coq8b	coenzyme Q8B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311356	Coq8b	coenzyme Q8B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1311356	Coq8b	coenzyme Q8B	gene	DOID:0060249	scoliosis		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
1311356	Coq8b	coenzyme Q8B	gene	DOID:0080391	nephrotic syndrome type 9		ISO	RGD:1322771	D	RGD:7240710	20140911	OMIM			
1311356	Coq8b	coenzyme Q8B	gene	DOID:0080391	nephrotic syndrome type 9		ISO	RGD:1322771	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COQ8B-related condition | ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 9 | ClinVar Annotator: match by term: Nephrotic syndrome, type 9	PMID:16199547|PMID:24270420|PMID:25741868|PMID:28204945|PMID:28298181|PMID:28337616|PMID:28405841|PMID:28454995|PMID:28492532|PMID:29194833|PMID:29259860|PMID:29382012|PMID:30076350|PMID:31130284|PMID:31937884|PMID:32543055|PMID:32604935|PMID:32859164|PMID:32957916|PMID:33413146|PMID:33532864|PMID:34172776|PMID:34605136|PMID:35483523|PMID:36177613|PMID:36532926
1311356	Coq8b	coenzyme Q8B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322771	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:28492532|PMID:33084234
1311356	Coq8b	coenzyme Q8B	gene	DOID:1074	kidney failure		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868
1311356	Coq8b	coenzyme Q8B	gene	DOID:1115	sarcoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1311356	Coq8b	coenzyme Q8B	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1322771	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868|PMID:32543055
1311356	Coq8b	coenzyme Q8B	gene	DOID:1324	lung cancer		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1311356	Coq8b	coenzyme Q8B	gene	DOID:1596	depressive disorder		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1311356	Coq8b	coenzyme Q8B	gene	DOID:1909	melanoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311356	Coq8b	coenzyme Q8B	gene	DOID:2030	anxiety disorder		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1311356	Coq8b	coenzyme Q8B	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	
1311356	Coq8b	coenzyme Q8B	gene	DOID:3275	thymoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1311356	Coq8b	coenzyme Q8B	gene	DOID:423	myopathy		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	
1311356	Coq8b	coenzyme Q8B	gene	DOID:5041	esophageal cancer		ISO	RGD:1322771	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1311356	Coq8b	coenzyme Q8B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311356	Coq8b	coenzyme Q8B	gene	DOID:557	kidney disease		ISO	RGD:1322771	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:25741868|PMID:28492532
1311356	Coq8b	coenzyme Q8B	gene	DOID:5679	retinal disease		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:25741868|PMID:28492532
1311356	Coq8b	coenzyme Q8B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1311356	Coq8b	coenzyme Q8B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1311356	Coq8b	coenzyme Q8B	gene	DOID:630	genetic disease		ISO	RGD:1322771	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24270420|PMID:25741868|PMID:28204945|PMID:28454995|PMID:28492532|PMID:29194833|PMID:29382012|PMID:31130284|PMID:31937884|PMID:32543055|PMID:32604935|PMID:32859164|PMID:34605136|PMID:36177613|PMID:36532926
1311356	Coq8b	coenzyme Q8B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311356	Coq8b	coenzyme Q8B	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1322771	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28204945|PMID:28492532|PMID:31328266|PMID:31937884
1311356	Coq8b	coenzyme Q8B	gene	DOID:783	end stage renal disease		ISO	RGD:1322771	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: end stage renal failure	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311356	Coq8b	coenzyme Q8B	gene	DOID:9000053	Headache		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
1311356	Coq8b	coenzyme Q8B	gene	DOID:9000495	Tremor		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
1311356	Coq8b	coenzyme Q8B	gene	DOID:9000641	Pain		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	
1311356	Coq8b	coenzyme Q8B	gene	DOID:9001733	Tinnitus		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
1311356	Coq8b	coenzyme Q8B	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
1311356	Coq8b	coenzyme Q8B	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1311356	Coq8b	coenzyme Q8B	gene	DOID:9006617	Fatigue		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
1311356	Coq8b	coenzyme Q8B	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exercise intolerance	
1311356	Coq8b	coenzyme Q8B	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	
1311356	Coq8b	coenzyme Q8B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1311358	Cep57l1	centrosomal protein 57-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1347020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311358	Cep57l1	centrosomal protein 57-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1347020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311358	Cep57l1	centrosomal protein 57-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311358	Cep57l1	centrosomal protein 57-like 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1347020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311358	Cep57l1	centrosomal protein 57-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311358	Cep57l1	centrosomal protein 57-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347020	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311358	Cep57l1	centrosomal protein 57-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311358	Cep57l1	centrosomal protein 57-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311359	Slc35a1	solute carrier family 35 member A1	gene	DOID:0070258	congenital disorder of glycosylation type IIf		ISO	RGD:1322776	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311359	Slc35a1	solute carrier family 35 member A1	gene	DOID:0070258	congenital disorder of glycosylation type IIf		ISO	RGD:1322776	D	RGD:7240710	20130221	OMIM			
1311359	Slc35a1	solute carrier family 35 member A1	gene	DOID:0070258	congenital disorder of glycosylation type IIf		ISO	RGD:1322776	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2F | ClinVar Annotator: match by term: SLC35A1-CDG | ClinVar Annotator: match by term: SLC35A1-related condition	PMID:24033266|PMID:25741868|PMID:28492532
1311359	Slc35a1	solute carrier family 35 member A1	gene	DOID:1115	sarcoma		ISO	RGD:1322776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311359	Slc35a1	solute carrier family 35 member A1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311359	Slc35a1	solute carrier family 35 member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311359	Slc35a1	solute carrier family 35 member A1	gene	DOID:630	genetic disease		ISO	RGD:1322776	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311359	Slc35a1	solute carrier family 35 member A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311360	Aasdhppt	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	gene	DOID:1324	lung cancer		ISO	RGD:1322778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311360	Aasdhppt	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	gene	DOID:4362	cervical cancer		ISO	RGD:1322778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311360	Aasdhppt	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311361	Lin54	lin-54 DREAM MuvB core complex component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311361	Lin54	lin-54 DREAM MuvB core complex component	gene	DOID:10534	stomach cancer		ISO	RGD:1606970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311361	Lin54	lin-54 DREAM MuvB core complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1606970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311361	Lin54	lin-54 DREAM MuvB core complex component	gene	DOID:5041	esophageal cancer		ISO	RGD:1606970	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311361	Lin54	lin-54 DREAM MuvB core complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311361	Lin54	lin-54 DREAM MuvB core complex component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311361	Lin54	lin-54 DREAM MuvB core complex component	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311362	Ntaq1	N-terminal glutamine amidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1602877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311362	Ntaq1	N-terminal glutamine amidase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311362	Ntaq1	N-terminal glutamine amidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311362	Ntaq1	N-terminal glutamine amidase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311362	Ntaq1	N-terminal glutamine amidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311362	Ntaq1	N-terminal glutamine amidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:10283	prostate cancer		ISO	RGD:1322781	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:10283	prostate cancer		ISO	RGD:1322781	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:3275	thymoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322781	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311363	Ptpn3	protein tyrosine phosphatase, non-receptor type 3	gene	DOID:9775	diastolic heart failure		ISO	RGD:1322781	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1311364	Tmem218	transmembrane protein 218	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311364	Tmem218	transmembrane protein 218	gene	DOID:0050576	Senior-Loken syndrome		ISS	RGD:1332286	D	RGD:13592920	20180518	MouseDO		OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615	
1311364	Tmem218	transmembrane protein 218	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2293899	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:33791682
1311364	Tmem218	transmembrane protein 218	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311364	Tmem218	transmembrane protein 218	gene	DOID:0070118	Meckel syndrome 4		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meckel syndrome, type 4	
1311364	Tmem218	transmembrane protein 218	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311364	Tmem218	transmembrane protein 218	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311364	Tmem218	transmembrane protein 218	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311364	Tmem218	transmembrane protein 218	gene	DOID:9004188	Joubert Syndrome 39		ISO	RGD:2293899	D	RGD:7240710	20211027	OMIM			
1311364	Tmem218	transmembrane protein 218	gene	DOID:9004188	Joubert Syndrome 39		ISO	RGD:2293899	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 39 | ClinVar Annotator: match by term: Joubert syndrome 39	PMID:25741868|PMID:35137054
1311364	Tmem218	transmembrane protein 218	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311364	Tmem218	transmembrane protein 218	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311365	Trappc1	trafficking protein particle complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311365	Trappc1	trafficking protein particle complex subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311365	Trappc1	trafficking protein particle complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311365	Trappc1	trafficking protein particle complex subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311365	Trappc1	trafficking protein particle complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311365	Trappc1	trafficking protein particle complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311366	Epb41l5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311366	Epb41l5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:10534	stomach cancer		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311366	Epb41l5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311366	Epb41l5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311366	Epb41l5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:3275	thymoma		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311366	Epb41l5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:4362	cervical cancer		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311366	Epb41l5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1322786	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311366	Epb41l5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311366	Epb41l5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311366	Epb41l5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:630	genetic disease		ISO	RGD:1322786	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311366	Epb41l5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311366	Epb41l5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311366	Epb41l5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311367	Snx30	sorting nexin family member 30	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311367	Snx30	sorting nexin family member 30	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311367	Snx30	sorting nexin family member 30	gene	DOID:1115	sarcoma		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311367	Snx30	sorting nexin family member 30	gene	DOID:1909	melanoma		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311367	Snx30	sorting nexin family member 30	gene	DOID:3275	thymoma		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311367	Snx30	sorting nexin family member 30	gene	DOID:4362	cervical cancer		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311367	Snx30	sorting nexin family member 30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311367	Snx30	sorting nexin family member 30	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311367	Snx30	sorting nexin family member 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311367	Snx30	sorting nexin family member 30	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311369	Tcea3	transcription elongation factor A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311369	Tcea3	transcription elongation factor A3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322790	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311369	Tcea3	transcription elongation factor A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311369	Tcea3	transcription elongation factor A3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311369	Tcea3	transcription elongation factor A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311369	Tcea3	transcription elongation factor A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:0111901	heparin cofactor II deficiency		ISO	RGD:1322792	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Heparin cofactor II deficiency	PMID:25741868
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:10283	prostate cancer		ISO	RGD:1322792	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:10283	prostate cancer		ISO	RGD:1322792	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:1115	sarcoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:1324	lung cancer		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:1909	melanoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:3275	thymoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:4362	cervical cancer		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322792	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311370	Eif4g3	eukaryotic translation initiation factor 4 gamma, 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311371	Crlf1	cytokine receptor-like factor 1	gene	DOID:0060294	cold-induced sweating syndrome		ISO	RGD:1322794	D	RGD:11554173	20180809	CTD		CTD Direct Evidence: marker/mechanism	
1311371	Crlf1	cytokine receptor-like factor 1	gene	DOID:0060294	cold-induced sweating syndrome		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cold-induced sweating syndrome | ClinVar Annotator: match by term: Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death	PMID:24488861|PMID:25741868|PMID:31497877
1311371	Crlf1	cytokine receptor-like factor 1	gene	DOID:0080329	cold-induced sweating syndrome 1		ISO	RGD:1322794	D	RGD:7240710	20180307	OMIM			
1311371	Crlf1	cytokine receptor-like factor 1	gene	DOID:0080329	cold-induced sweating syndrome 1		ISO	RGD:1322794	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 | ClinVar Annotator: match by term: CRLF1-related condition | ClinVar Annotator: match by term: Cold-induced sweating syndrome 1	PMID:12509788|PMID:17436251|PMID:17436252|PMID:19012339|PMID:20186812|PMID:20400119|PMID:21326283|PMID:24008591|PMID:24073352|PMID:24488861|PMID:25326637|PMID:25741868|PMID:27976805|PMID:28492532|PMID:31497877|PMID:35699517
1311371	Crlf1	cytokine receptor-like factor 1	gene	DOID:0111019	cone-rod dystrophy 12		ISO	RGD:1322794	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 12	PMID:25741868|PMID:31497877
1311371	Crlf1	cytokine receptor-like factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311371	Crlf1	cytokine receptor-like factor 1	gene	DOID:1909	melanoma		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311371	Crlf1	cytokine receptor-like factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311371	Crlf1	cytokine receptor-like factor 1	gene	DOID:630	genetic disease		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311371	Crlf1	cytokine receptor-like factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311371	Crlf1	cytokine receptor-like factor 1	gene	DOID:9007653	Multiple Abnormalities	susceptibility	ISO	RGD:1322794	D	RGD:1600970|PMID:12509788	20070402	RGD		Cold-induced sweating syndrome-1, OMIM:272430	
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1322796	D	RGD:8554872	20221004	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)	PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:9536098|PMID:9837814
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1322796	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)	PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:33528536|PMID:35106698|PMID:9536098|PMID:9837814
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1322796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL	PMID:11890679|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25741868|PMID:28492532|PMID:33528536|PMID:35106698|PMID:9837814
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency		ISO	RGD:1322796	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	PMID:25741868|PMID:28492532
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:0080377	peroxisomal biogenesis disorder		ISO	RGD:1322796	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11890679|PMID:12223482
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:0080483	peroxisome biogenesis disorder 8A		ISO	RGD:1322796	D	RGD:7240710	20140911	OMIM			
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:0080483	peroxisome biogenesis disorder 8A		ISO	RGD:1322796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) | ClinVar Annotator: match by term: PEX16-related disorder | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX16 defect	PMID:11890679|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9837814
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:0081437	Peroxisome biogenesis disorder 8B		ISO	RGD:1322796	D	RGD:7240710	20140911	OMIM			
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:0081437	Peroxisome biogenesis disorder 8B		ISO	RGD:1322796	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 8B | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8B	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:10907	microcephaly		ISO	RGD:1322796	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:1909	melanoma		ISO	RGD:1322796	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:4362	cervical cancer		ISO	RGD:1322796	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:11890679|PMID:16199547|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:630	genetic disease		ISO	RGD:1322796	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:905	Zellweger syndrome		ISO	RGD:1322796	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11890679
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:905	Zellweger syndrome		ISO	RGD:1322796	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome	PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:9536098|PMID:9837814
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:905	Zellweger syndrome		ISO	RGD:1322796	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum	PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:35106698|PMID:9536098|PMID:9837814
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:905	Zellweger syndrome		ISO	RGD:1322796	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome	PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:33528536|PMID:35106698|PMID:9536098|PMID:9837814
1311372	Pex16	peroxisomal biogenesis factor 16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322796	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311373	Zswim2	zinc finger, SWIM-type containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311373	Zswim2	zinc finger, SWIM-type containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1322798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311373	Zswim2	zinc finger, SWIM-type containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1322798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1322799	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28067908
1311374	Itgb8	integrin subunit beta 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322799	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:0080600	COVID-19		ISO	RGD:1322799	D	RGD:9068941	20200613	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311374	Itgb8	integrin subunit beta 8	gene	DOID:10534	stomach cancer		ISO	RGD:1322799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:1324	lung cancer		ISO	RGD:1322799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:289	endometriosis		ISO	RGD:1322799	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1311374	Itgb8	integrin subunit beta 8	gene	DOID:3275	thymoma		ISO	RGD:1322799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:4362	cervical cancer		ISO	RGD:1322799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1322799	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322799	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1311374	Itgb8	integrin subunit beta 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311374	Itgb8	integrin subunit beta 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:1322801	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22131434|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25510381|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29525178|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32376792|PMID:32385536|PMID:33502061|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22131434|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25510381|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:32022442|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33424531|PMID:33502061|PMID:34122524|PMID:34169998|PMID:34426522|PMID:36133075|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:32022442|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33424531|PMID:33502061|PMID:33770234|PMID:34122524|PMID:34169998|PMID:34426522|PMID:36133075|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:32022442|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33096303|PMID:33424531|PMID:33502061|PMID:33770234|PMID:34122524|PMID:34169998|PMID:34426522|PMID:36133075|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:31980526|PMID:32022442|PMID:32268254|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33096303|PMID:33405357|PMID:33424531|PMID:33502061|PMID:33770234|PMID:34122524|PMID:34169998|PMID:34426522|PMID:34899148|PMID:36133075|PMID:36529678|PMID:37223130|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18556664|PMID:19118816|PMID:20630877|PMID:21705420|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25614874|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26742954|PMID:28051077|PMID:28492532|PMID:28889094|PMID:29342275|PMID:29518270|PMID:29650794|PMID:30740813|PMID:32268254|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33424531|PMID:33770234|PMID:34122524|PMID:34426522|PMID:35982159|PMID:36133075|PMID:37223130|PMID:37950760|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:19118816|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060202	amyotrophic lateral sclerosis type 11		ISO	RGD:1322801	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060202	amyotrophic lateral sclerosis type 11		ISO	RGD:1322801	D	RGD:7240710	20130425	OMIM			
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060202	amyotrophic lateral sclerosis type 11		ISO	RGD:1322801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 11 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11	PMID:17572665|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23336365|PMID:23623387|PMID:25382069|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28051077|PMID:28492532|PMID:29342275|PMID:29650794|PMID:30740813|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:37223130|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060589	Yunis-Varon syndrome		ISO	RGD:1322801	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060589	Yunis-Varon syndrome		ISO	RGD:1322801	D	RGD:7240710	20141015	OMIM			
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060589	Yunis-Varon syndrome		ISO	RGD:1322801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: YUNIS-VARON SYNDROME | ClinVar Annotator: match by term: Yunis Varon syndrome | ClinVar Annotator: match by term: Yunis-Varon Syndrome | ClinVar Annotator: match by term: Yunis-Varon syndrome	PMID:16199547|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23336365|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24598713|PMID:25382069|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29342275|PMID:29650794|PMID:30740813|PMID:32376792|PMID:32385536|PMID:33424531|PMID:34426522|PMID:36133075|PMID:37223130|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060589	Yunis-Varon syndrome		ISS	RGD:1322802	D	RGD:13592920	20230718	MouseDO		OMIM:216340	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria		ISO	RGD:1322801	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria		ISO	RGD:1322801	D	RGD:7240710	20140924	OMIM			
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria		ISO	RGD:1322801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bilateral parasagittal parieto-occipital polymicrogyria | ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital	PMID:19118816|PMID:21705420|PMID:23336365|PMID:24598713|PMID:25382069|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:32385536|PMID:34426522
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0110184	Charcot-Marie-Tooth disease type 4J		ISO	RGD:1322801	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0110184	Charcot-Marie-Tooth disease type 4J		ISO	RGD:1322801	D	RGD:7240710	20130221	OMIM			
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0110184	Charcot-Marie-Tooth disease type 4J		ISO	RGD:1322801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18261132|PMID:19118816|PMID:20630877|PMID:21705420|PMID:23336365|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28051077|PMID:28492532|PMID:29342275|PMID:29650794|PMID:30740813|PMID:32268254|PMID:32376792|PMID:32385536|PMID:33405357|PMID:33424531|PMID:34426522|PMID:34567078|PMID:36133075|PMID:37223130|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0110184	Charcot-Marie-Tooth disease type 4J		ISS	RGD:1322802	D	RGD:13592920	20230718	MouseDO		OMIM:611228	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0111198	autosomal dominant distal hereditary motor neuronopathy		ISO	RGD:1322801	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1322801	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17572665
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1322801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:16199547|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23336365|PMID:23623387|PMID:24033266|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28859335|PMID:29518270|PMID:30740813|PMID:33424531|PMID:35225887|PMID:36133075|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:10892	hypospadias		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy	PMID:25741868|PMID:28492532
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:2030	anxiety disorder		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:2394	ovarian cancer		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:3275	thymoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease	PMID:17572665|PMID:17576681|PMID:19118816|PMID:23623387|PMID:25299611|PMID:25741868|PMID:28492532|PMID:30740813|PMID:32376792|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:4362	cervical cancer		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:480	movement disease		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:5041	esophageal cancer		ISO	RGD:1322801	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:630	genetic disease		ISO	RGD:1322801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23336365|PMID:23623387|PMID:25382069|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29342275|PMID:29650794|PMID:30552426|PMID:30740813|PMID:32268254|PMID:32376792|PMID:32385536|PMID:34426522|PMID:37223130|PMID:9536098
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322801	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:26467025|PMID:28492532
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
1311375	Fig4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9256	colorectal cancer		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:26467025|PMID:28492532
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:1322803	D	RGD:8554872	20240702	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2	
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:0080600	COVID-19		ISO	RGD:1322803	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:10534	stomach cancer		ISO	RGD:1322803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:1324	lung cancer		ISO	RGD:1322803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:1322803	D	RGD:1642025|PMID:11438176	20070829	RGD		mRNA:increased expression:mononuclear cell	
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1322803	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1322803	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:9009011	Cavitary Optic Disc Anomalies		ISO	RGD:1322803	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:9009011	Cavitary Optic Disc Anomalies		ISO	RGD:1322803	D	RGD:7240710	20150930	OMIM			
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:9009011	Cavitary Optic Disc Anomalies		ISO	RGD:1322803	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAVITARY OPTIC DISC ANOMALIES	
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:9970	obesity		ISO	RGD:1322804	D	RGD:1642022|PMID:15169894	20070829	RGD			
1311376	Mmp19	matrix metallopeptidase 19	gene	DOID:9970	obesity		ISO	RGD:1322804	D	RGD:1642023|PMID:12529376	20070829	RGD		mRNA:increased expression:adipose tissue	
1311377	Rpia	ribose 5-phosphate isomerase A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311377	Rpia	ribose 5-phosphate isomerase A	gene	DOID:3275	thymoma		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311377	Rpia	ribose 5-phosphate isomerase A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311377	Rpia	ribose 5-phosphate isomerase A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311377	Rpia	ribose 5-phosphate isomerase A	gene	DOID:630	genetic disease		ISO	RGD:1322805	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary Disorder | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311377	Rpia	ribose 5-phosphate isomerase A	gene	DOID:630	genetic disease		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311377	Rpia	ribose 5-phosphate isomerase A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311377	Rpia	ribose 5-phosphate isomerase A	gene	DOID:9005223	Ribose 5-Phosphate Isomerase Deficiency		ISO	RGD:1322805	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311377	Rpia	ribose 5-phosphate isomerase A	gene	DOID:9005223	Ribose 5-Phosphate Isomerase Deficiency		ISO	RGD:1322805	D	RGD:7240710	20130221	OMIM			
1311377	Rpia	ribose 5-phosphate isomerase A	gene	DOID:9005223	Ribose 5-Phosphate Isomerase Deficiency		ISO	RGD:1322805	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deficiency of ribose-5-phosphate isomerase | ClinVar Annotator: match by term: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY | ClinVar Annotator: match by term: RPIA-related condition	PMID:25741868|PMID:28492532|PMID:30088433
1311377	Rpia	ribose 5-phosphate isomerase A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311377	Rpia	ribose 5-phosphate isomerase A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311378	Mims2	mitochondrial inner membrane scaffold 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311378	Mims2	mitochondrial inner membrane scaffold 2	gene	DOID:1909	melanoma		ISO	RGD:1322807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311378	Mims2	mitochondrial inner membrane scaffold 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311378	Mims2	mitochondrial inner membrane scaffold 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311378	Mims2	mitochondrial inner membrane scaffold 2	gene	DOID:9074	systemic lupus erythematosus		ISS	RGD:1322808	D	RGD:13592920	20240808	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
1311379	Insc	INSC, spindle orientation adaptor protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311379	Insc	INSC, spindle orientation adaptor protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311379	Insc	INSC, spindle orientation adaptor protein	gene	DOID:10534	stomach cancer		ISO	RGD:1606091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311379	Insc	INSC, spindle orientation adaptor protein	gene	DOID:1115	sarcoma		ISO	RGD:1606091	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311379	Insc	INSC, spindle orientation adaptor protein	gene	DOID:1324	lung cancer		ISO	RGD:1606091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311379	Insc	INSC, spindle orientation adaptor protein	gene	DOID:3275	thymoma		ISO	RGD:1606091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311379	Insc	INSC, spindle orientation adaptor protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1606091	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311379	Insc	INSC, spindle orientation adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311379	Insc	INSC, spindle orientation adaptor protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311379	Insc	INSC, spindle orientation adaptor protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1606091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311380	Fanca	FA complementation group A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
1311380	Fanca	FA complementation group A	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1322810	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1311380	Fanca	FA complementation group A	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1322810	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:25741868
1311380	Fanca	FA complementation group A	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1322810	D	RGD:7240710	20181219	OMIM			
1311380	Fanca	FA complementation group A	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1322810	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A	PMID:08896563|PMID:08896564|PMID:09371798|PMID:09399890|PMID:09721219|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12827451|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:19109555|PMID:19139070|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:20301575|PMID:20435624|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:2339692|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25703136|PMID:25741868|PMID:25741905|PMID:25741913|PMID:25741916|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30306255|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31698007|PMID:31721781|PMID:32002546|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33332384|PMID:33482836|PMID:33558524|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33762291|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34308366|PMID:34422195|PMID:34426522|PMID:34512202|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35348533|PMID:35655404|PMID:37349538|PMID:8896563|PMID:8896564|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1322810	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A	PMID:08896563|PMID:08896564|PMID:09371798|PMID:09399890|PMID:09721219|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12827451|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:19109555|PMID:19139070|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:20301575|PMID:20435624|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:2339692|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26336887|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26833332|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27224906|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30134342|PMID:30268473|PMID:30306255|PMID:30541756|PMID:30709382|PMID:30792206|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31130284|PMID:31192125|PMID:31259830|PMID:31263571|PMID:31395037|PMID:31432501|PMID:31543367|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31698007|PMID:31721781|PMID:31874108|PMID:31911633|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33558524|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33850299|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34308366|PMID:34422195|PMID:34426522|PMID:34480478|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35171259|PMID:35273153|PMID:35314707|PMID:35348533|PMID:35417938|PMID:35655404|PMID:35854323|PMID:35884425|PMID:36451132|PMID:36463940|PMID:36863698|PMID:36894310|PMID:36898365|PMID:37349538|PMID:38779778|PMID:39256447|PMID:6720839|PMID:8896563|PMID:8896564|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A	PMID:08896563|PMID:08896564|PMID:09399890|PMID:09721219|PMID:10090479|PMID:10094191|PMID:10521298|PMID:10862090|PMID:11344308|PMID:11739169|PMID:12444097|PMID:12955722|PMID:15522956|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:16397136|PMID:16720839|PMID:17327415|PMID:17576681|PMID:1792455|PMID:17924555|PMID:19278965|PMID:19367192|PMID:20435624|PMID:21273304|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:2339692|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23973728|PMID:24037726|PMID:24584348|PMID:2472832|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25741868|PMID:25953249|PMID:26467025|PMID:26689913|PMID:26799702|PMID:27041517|PMID:27701467|PMID:28102861|PMID:28104920|PMID:28215707|PMID:28492532|PMID:28623394|PMID:28678401|PMID:29098742|PMID:29269525|PMID:29621589|PMID:29625052|PMID:30031030|PMID:30792206|PMID:31130284|PMID:31558676|PMID:31586946|PMID:31589614|PMID:32235514|PMID:32487094|PMID:32546565|PMID:32793304|PMID:32947577|PMID:33224012|PMID:33482836|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34480478|PMID:34585473|PMID:34754157|PMID:34906502|PMID:35417938|PMID:36894310|PMID:37276838|PMID:39643631|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:0111095	Fanconi anemia complementation group A		ISS	RGD:1322811	D	RGD:13592920	20230718	MouseDO		OMIM:227650	
1311380	Fanca	FA complementation group A	gene	DOID:10534	stomach cancer		ISO	RGD:1322810	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311380	Fanca	FA complementation group A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322810	D	RGD:11344902|PMID:19237606	20160707	RGD			
1311380	Fanca	FA complementation group A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322810	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121791
1311380	Fanca	FA complementation group A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311380	Fanca	FA complementation group A	gene	DOID:1115	sarcoma		ISO	RGD:1322810	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311380	Fanca	FA complementation group A	gene	DOID:1324	lung cancer		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer, somatic	
1311380	Fanca	FA complementation group A	gene	DOID:1324	lung cancer		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:11344899|PMID:15523645	20160707	RGD		DNA:missense mutations, splice-site mutations:exon, intron:multiple	
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:11344919|PMID:12827451	20160708	RGD		DNA:deletions, transitions:exon, intron:multiple	
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:22482891
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30792206|PMID:31192125|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31721781|PMID:32098966|PMID:33172906|PMID:33224012|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30792206|PMID:31192125|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31721781|PMID:32098966|PMID:33172906|PMID:33224012|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:31030435|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24123366|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30306255|PMID:30792206|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31613886|PMID:31655866|PMID:31698007|PMID:31721781|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34422195|PMID:34426522|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35348533|PMID:37349538|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24123366|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25741905|PMID:25741916|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28870985|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30192042|PMID:30268473|PMID:30306255|PMID:30792206|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31613886|PMID:31655866|PMID:31698007|PMID:31721781|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33558524|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33762291|PMID:33883933|PMID:33960719|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34308366|PMID:34422195|PMID:34426522|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35348533|PMID:35655404|PMID:37349538|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24123366|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28870985|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30192042|PMID:30268473|PMID:30306255|PMID:30792206|PMID:30809872|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31613886|PMID:31655866|PMID:31698007|PMID:31721781|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33558524|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33762291|PMID:33883933|PMID:33960719|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34308366|PMID:34422195|PMID:34426522|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35348533|PMID:35655404|PMID:37349538|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21236561|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24123366|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28690869|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28870985|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30192042|PMID:30268473|PMID:30306255|PMID:30792206|PMID:30809872|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31613886|PMID:31655866|PMID:31698007|PMID:31721781|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33558524|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33762291|PMID:33883933|PMID:33960719|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34308366|PMID:34422195|PMID:34426522|PMID:34480478|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35314707|PMID:35348533|PMID:35655404|PMID:37349538|PMID:8896563|PMID:9371789|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:1273304|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21236561|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24121791|PMID:24123366|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26336887|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27224906|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28690869|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28870985|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29753700|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30134342|PMID:30192042|PMID:30268473|PMID:30306255|PMID:30541756|PMID:30709382|PMID:30792206|PMID:30809872|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31203817|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31543367|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31613886|PMID:31655866|PMID:31698007|PMID:31721781|PMID:31874108|PMID:31911633|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33558524|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33762291|PMID:33850299|PMID:33883933|PMID:33960719|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34308366|PMID:34422195|PMID:34426522|PMID:34480478|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35171259|PMID:35273153|PMID:35314707|PMID:35348533|PMID:35417938|PMID:35655404|PMID:35739269|PMID:35884425|PMID:36451132|PMID:36463940|PMID:36863698|PMID:36894310|PMID:36898365|PMID:37349538|PMID:38779778|PMID:39256447|PMID:8896563|PMID:9371789|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:1273304|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21236561|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24121791|PMID:24123366|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26336887|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27224906|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28690869|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28870985|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29753700|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30134342|PMID:30192042|PMID:30268473|PMID:30306255|PMID:30541756|PMID:30709382|PMID:30792206|PMID:30809872|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31203817|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31543367|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31613886|PMID:31655866|PMID:31698007|PMID:31721781|PMID:31874108|PMID:31911633|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33558524|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33850299|PMID:33883933|PMID:33960719|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34308366|PMID:34422195|PMID:34426522|PMID:34480478|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35171259|PMID:35273153|PMID:35314707|PMID:35348533|PMID:35417938|PMID:35655404|PMID:35739269|PMID:35854323|PMID:35884425|PMID:36385762|PMID:36451132|PMID:36463940|PMID:36513378|PMID:36863698|PMID:36894310|PMID:36898365|PMID:37349538|PMID:38779778|PMID:39256447|PMID:8896563|PMID:9371789|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fanconi Anemia | ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10210316|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:1273304|PMID:12827451|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16532972|PMID:16720839|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20307669|PMID:21236561|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:24037726|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26467025|PMID:26556299|PMID:26689913|PMID:26701949|PMID:26740942|PMID:26799702|PMID:26832770|PMID:26841305|PMID:27041517|PMID:27418648|PMID:28102861|PMID:28104920|PMID:28215707|PMID:28492532|PMID:28623394|PMID:28687356|PMID:28690869|PMID:28717661|PMID:28864460|PMID:28870985|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29641532|PMID:29702541|PMID:29753700|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30057198|PMID:30086788|PMID:30792206|PMID:31203817|PMID:31259830|PMID:31395037|PMID:31558676|PMID:31586946|PMID:31589614|PMID:32002546|PMID:32098966|PMID:32235514|PMID:32487094|PMID:32546565|PMID:32620917|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33224011|PMID:33224012|PMID:33394227|PMID:33482836|PMID:33679882|PMID:33718801|PMID:33883933|PMID:33960719|PMID:34250406|PMID:34422195|PMID:34573280|PMID:34585473|PMID:34906502|PMID:35101336|PMID:35171259|PMID:35295078|PMID:35314707|PMID:35366911|PMID:35417938|PMID:35776903|PMID:35854323|PMID:35884425|PMID:35988656|PMID:36135330|PMID:36167633|PMID:36385762|PMID:36451132|PMID:36463940|PMID:36513378|PMID:36744932|PMID:3689431|PMID:36894310|PMID:37216690|PMID:37349538|PMID:37547463|PMID:37865086|PMID:37934348|PMID:38191666|PMID:38740980|PMID:39252317|PMID:40206918|PMID:8896563|PMID:9371789|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9929978
1311380	Fanca	FA complementation group A	gene	DOID:13636	Fanconi anemia	disease_progression	ISO	RGD:1322810	D	RGD:11344914|PMID:11110674	20160708	RGD		DNA:deletion	
1311380	Fanca	FA complementation group A	gene	DOID:1612	breast cancer		ISO	RGD:1322810	D	RGD:11344892|PMID:23021409	20160707	RGD		DNA:missense mutations, SNP:exon, 5' utr:p.T266A (c.796A>G, rs7190823), p.G501S (c.1501G>A, rs2239359), c.-1C>A (human)	
1311380	Fanca	FA complementation group A	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322810	D	RGD:2317735|PMID:15591268	20100420	RGD		DNA,Protein:polymorphisms:exons:c.377C>G, c.661A>G (human)	
1311380	Fanca	FA complementation group A	gene	DOID:1909	melanoma		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
1311380	Fanca	FA complementation group A	gene	DOID:2018	hyperinsulinism		ISO	RGD:1322810	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:22482891
1311380	Fanca	FA complementation group A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
1311380	Fanca	FA complementation group A	gene	DOID:2394	ovarian cancer		ISO	RGD:1322810	D	RGD:11344887|PMID:15860134	20160707	RGD		DNA:duplication:promoter	
1311380	Fanca	FA complementation group A	gene	DOID:2394	ovarian cancer		ISO	RGD:1322810	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:22950077|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29621589|PMID:34754157
1311380	Fanca	FA complementation group A	gene	DOID:2394	ovarian cancer		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1311380	Fanca	FA complementation group A	gene	DOID:3275	thymoma		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311380	Fanca	FA complementation group A	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1322810	D	RGD:11344913|PMID:21279724	20160708	RGD		DNA:missense mutation: :p.S858R (human)	
1311380	Fanca	FA complementation group A	gene	DOID:4362	cervical cancer		ISO	RGD:1322810	D	RGD:11344886|PMID:19012493	20160707	RGD		DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human)	
1311380	Fanca	FA complementation group A	gene	DOID:4362	cervical cancer		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311380	Fanca	FA complementation group A	gene	DOID:4362	cervical cancer	no_association	ISO	RGD:1322810	D	RGD:11344901|PMID:21543111	20160707	RGD		DNA:SNP: :rs11649196 (human)	
1311380	Fanca	FA complementation group A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
1311380	Fanca	FA complementation group A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311380	Fanca	FA complementation group A	gene	DOID:4961	bone marrow disease		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:15643609|PMID:16084127|PMID:19367192|PMID:21659346|PMID:25741868|PMID:28492532|PMID:29098742
1311380	Fanca	FA complementation group A	gene	DOID:5041	esophageal cancer		ISO	RGD:1322810	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311380	Fanca	FA complementation group A	gene	DOID:5223	infertility		ISO	RGD:1322811	D	RGD:11344895|PMID:10915769	20160707	RGD		associated with Hypogonadism	
1311380	Fanca	FA complementation group A	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1322810	D	RGD:11344888|PMID:24045675	20160707	RGD		DNA:SNPs, haplotypes: :multiple	
1311380	Fanca	FA complementation group A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
1311380	Fanca	FA complementation group A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311380	Fanca	FA complementation group A	gene	DOID:630	genetic disease		ISO	RGD:1322810	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14695169|PMID:15643609|PMID:21279724|PMID:23021409|PMID:24728327|PMID:25741868|PMID:26201965|PMID:26467025|PMID:27224906|PMID:28492532|PMID:30306255|PMID:30709382|PMID:30792206|PMID:32235514|PMID:32546565|PMID:39256447|PMID:9371798
1311380	Fanca	FA complementation group A	gene	DOID:630	genetic disease		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30792206
1311380	Fanca	FA complementation group A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
1311380	Fanca	FA complementation group A	gene	DOID:7998	hyperthyroidism		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:26467025|PMID:28492532
1311380	Fanca	FA complementation group A	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:1322810	D	RGD:11344896|PMID:25243787	20160707	RGD		DNA:SNP: :rs62068372 (human)	
1311380	Fanca	FA complementation group A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
1311380	Fanca	FA complementation group A	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1322810	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1311380	Fanca	FA complementation group A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322810	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1311380	Fanca	FA complementation group A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311380	Fanca	FA complementation group A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322810	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17924555|PMID:19367192|PMID:25741868|PMID:28492532
1311380	Fanca	FA complementation group A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322810	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17924555|PMID:19367192|PMID:24584348|PMID:25741868|PMID:28492532|PMID:9399890
1311380	Fanca	FA complementation group A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322810	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17924555|PMID:19367192|PMID:21273304|PMID:24584348|PMID:25741868|PMID:28492532|PMID:9399890
1311380	Fanca	FA complementation group A	gene	DOID:9007661	Dwarfism		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1311380	Fanca	FA complementation group A	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1322811	D	RGD:11046266|PMID:22482891	20160404	RGD			
1311380	Fanca	FA complementation group A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311380	Fanca	FA complementation group A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322810	D	RGD:11344889|PMID:14749703	20160707	RGD		DNA, mRNA:deletions, decreased expression: :multiple	
1311380	Fanca	FA complementation group A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
1311380	Fanca	FA complementation group A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
1311380	Fanca	FA complementation group A	gene	DOID:9834	hyperopia		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:26467025|PMID:28492532
1311380	Fanca	FA complementation group A	gene	DOID:9970	obesity		ISO	RGD:1322811	D	RGD:11046266|PMID:22482891	20160404	RGD			
1311381	Tent5a	terminal nucleotidyltransferase 5A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311381	Tent5a	terminal nucleotidyltransferase 5A	gene	DOID:0111848	osteogenesis imperfecta type 18		ISO	RGD:1604353	D	RGD:7240710	20190315	OMIM			
1311381	Tent5a	terminal nucleotidyltransferase 5A	gene	DOID:0111848	osteogenesis imperfecta type 18		ISO	RGD:1604353	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XVIII | ClinVar Annotator: match by term: Osteogenesis imperfecta, type 18 | ClinVar Annotator: match by term: TENT5A-related condition	PMID:25741868|PMID:28492532
1311381	Tent5a	terminal nucleotidyltransferase 5A	gene	DOID:10485	esophageal atresia		ISO	RGD:1604353	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
1311381	Tent5a	terminal nucleotidyltransferase 5A	gene	DOID:1470	major depressive disorder		ISO	RGD:1604353	D	RGD:634888054|PMID:25226551	20260303	RGD		mRNA:decreased expression:blood	
1311381	Tent5a	terminal nucleotidyltransferase 5A	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1604353	D	RGD:14390136|PMID:25884493	20190220	RGD		DNA:repeats: :	
1311381	Tent5a	terminal nucleotidyltransferase 5A	gene	DOID:5041	esophageal cancer		ISO	RGD:1604353	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311381	Tent5a	terminal nucleotidyltransferase 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311381	Tent5a	terminal nucleotidyltransferase 5A	gene	DOID:8398	osteoarthritis	susceptibility	ISO	RGD:1604353	D	RGD:14390133|PMID:25231575	20190220	RGD		DNA:repeats: :	
1311382	Kirrel3	kirre like nephrin family adhesion molecule 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322814	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1311382	Kirrel3	kirre like nephrin family adhesion molecule 3	gene	DOID:0070034	autosomal dominant intellectual developmental disorder 4		ISO	RGD:1322814	D	RGD:8554872	20220503	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 4	PMID:19012874|PMID:25741868
1311382	Kirrel3	kirre like nephrin family adhesion molecule 3	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1322814	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1311382	Kirrel3	kirre like nephrin family adhesion molecule 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311382	Kirrel3	kirre like nephrin family adhesion molecule 3	gene	DOID:1059	intellectual disability		ISO	RGD:1322814	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1311382	Kirrel3	kirre like nephrin family adhesion molecule 3	gene	DOID:1115	sarcoma		ISO	RGD:1322814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311382	Kirrel3	kirre like nephrin family adhesion molecule 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311382	Kirrel3	kirre like nephrin family adhesion molecule 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311382	Kirrel3	kirre like nephrin family adhesion molecule 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322814	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311382	Kirrel3	kirre like nephrin family adhesion molecule 3	gene	DOID:9008582	Developmental Disease		ISO	RGD:1322814	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1311383	Slc5a9	solute carrier family 5 member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311383	Slc5a9	solute carrier family 5 member 9	gene	DOID:1115	sarcoma		ISO	RGD:1322816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311383	Slc5a9	solute carrier family 5 member 9	gene	DOID:1324	lung cancer		ISO	RGD:1322816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311383	Slc5a9	solute carrier family 5 member 9	gene	DOID:1909	melanoma		ISO	RGD:1322816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311383	Slc5a9	solute carrier family 5 member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311383	Slc5a9	solute carrier family 5 member 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311383	Slc5a9	solute carrier family 5 member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311385	Ankrd24	ankyrin repeat domain 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311385	Ankrd24	ankyrin repeat domain 24	gene	DOID:10534	stomach cancer		ISO	RGD:1322819	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311385	Ankrd24	ankyrin repeat domain 24	gene	DOID:1115	sarcoma		ISO	RGD:1322819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311385	Ankrd24	ankyrin repeat domain 24	gene	DOID:1324	lung cancer		ISO	RGD:1322819	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311385	Ankrd24	ankyrin repeat domain 24	gene	DOID:4362	cervical cancer		ISO	RGD:1322819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311385	Ankrd24	ankyrin repeat domain 24	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322819	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311385	Ankrd24	ankyrin repeat domain 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311385	Ankrd24	ankyrin repeat domain 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311386	Foxp4	forkhead box P4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311386	Foxp4	forkhead box P4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311386	Foxp4	forkhead box P4	gene	DOID:10534	stomach cancer		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311386	Foxp4	forkhead box P4	gene	DOID:1324	lung cancer		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311386	Foxp4	forkhead box P4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1311386	Foxp4	forkhead box P4	gene	DOID:2394	ovarian cancer		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311386	Foxp4	forkhead box P4	gene	DOID:3275	thymoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311386	Foxp4	forkhead box P4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311386	Foxp4	forkhead box P4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1322820	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
1311386	Foxp4	forkhead box P4	gene	DOID:4362	cervical cancer		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311386	Foxp4	forkhead box P4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311386	Foxp4	forkhead box P4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311386	Foxp4	forkhead box P4	gene	DOID:6000	congestive heart failure		ISO	RGD:1322820	D	RGD:1582564|PMID:16952980	20061113	RGD			
1311386	Foxp4	forkhead box P4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311386	Foxp4	forkhead box P4	gene	DOID:8488	polyhydramnios		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1311386	Foxp4	forkhead box P4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1322820	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20676098
1311386	Foxp4	forkhead box P4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311386	Foxp4	forkhead box P4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322820	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:27435318|PMID:33110267
1311386	Foxp4	forkhead box P4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311386	Foxp4	forkhead box P4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322820	D	RGD:8554872	20170711	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1311387	Nudt16	nudix hydrolase 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311387	Nudt16	nudix hydrolase 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347227	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311387	Nudt16	nudix hydrolase 16	gene	DOID:0080600	COVID-19		ISO	RGD:1347227	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311387	Nudt16	nudix hydrolase 16	gene	DOID:3275	thymoma		ISO	RGD:1347227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311387	Nudt16	nudix hydrolase 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311387	Nudt16	nudix hydrolase 16	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347227	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311387	Nudt16	nudix hydrolase 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311387	Nudt16	nudix hydrolase 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:0060249	scoliosis		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:1059	intellectual disability		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:24767253|PMID:24993898|PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:1115	sarcoma		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:12849	autistic disorder		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:24767253|PMID:24993898|PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:1324	lung cancer		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:1712	aortic valve stenosis		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:1909	melanoma		ISO	RGD:1322823	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21499247
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:2355	anemia		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:24767253|PMID:24993898|PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:2725	capillary hemangioma		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:3211	lysosomal storage disease		ISS	RGD:1322824	D	RGD:13592920	20180518	MouseDO			
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:3275	thymoma		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:3659	sialuria		ISO	RGD:1322823	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:3659	sialuria		ISO	RGD:1322823	D	RGD:1624224|PMID:10581036	20070504	RGD		Salla disease, OMIM:604369, infantile sialic acid storage disorder, OMIM:269920	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:3659	sialuria		ISO	RGD:1322823	D	RGD:7240710	20130221	OMIM			
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:3659	sialuria		ISO	RGD:1322823	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic acid storage disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type	PMID:10069709|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28166811|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:9536098
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:3659	sialuria		ISO	RGD:1322823	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria, Finnish type	PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:9536098
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:3659	sialuria		ISO	RGD:1322823	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria, Finnish type	PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25741915|PMID:27848944|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:29654786|PMID:30243016|PMID:31130284|PMID:34979677|PMID:35322241|PMID:9536098
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:3659	sialuria		ISO	RGD:1322823	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria, Finnish type	PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:29654786|PMID:30243016|PMID:31130284|PMID:32371413|PMID:33547378|PMID:34979677|PMID:35322241|PMID:37713976|PMID:39742826|PMID:7151835|PMID:9536098
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:3659	sialuria		ISO	RGD:1322823	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria, Finnish type	PMID:10581036|PMID:10947946|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794688|PMID:15172001|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:20307669|PMID:21781115|PMID:22406018|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:29140481|PMID:29472023|PMID:29654786|PMID:30243016|PMID:31130284|PMID:32371413|PMID:33547378|PMID:34979677|PMID:35322241|PMID:37527937|PMID:37713976|PMID:9536098
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:3659	sialuria		ISO	RGD:1322823	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type	PMID:10581036|PMID:10947946|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12794688|PMID:15172001|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:20307669|PMID:21781115|PMID:22406018|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:29472023|PMID:29654786|PMID:30243016|PMID:31130284|PMID:33547378|PMID:34979677|PMID:35322241|PMID:37527937|PMID:39991440|PMID:9536098
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:3659	sialuria		ISS	RGD:1322824	D	RGD:13592920	20230718	MouseDO		OMIM:269921 | OMIM:604369	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1322823	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:535	sleep disorder		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:57	aortic valve insufficiency		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic regurgitation	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:630	genetic disease		ISO	RGD:1322823	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24767253|PMID:24993898|PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:8927	learning disability		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9000742	Free Sialic Acid Storage Disease		ISO	RGD:1322823	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: N-acetylneuraminic acid (NANA) storage disease (NSD) | ClinVar Annotator: match by term: free sialic acid storage disease	PMID:10581036|PMID:10947946|PMID:12794688|PMID:15172001|PMID:15805149|PMID:16199547|PMID:17933575|PMID:24767253|PMID:24993898|PMID:25741868|PMID:28492532|PMID:33547378
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9001722	Dysarthria		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9003820	Infantile Sialic Storage Disease		ISO	RGD:1322823	D	RGD:7240710	20180207	OMIM			
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9003820	Infantile Sialic Storage Disease		ISO	RGD:1322823	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INFANTILE SIALIC ACID STORAGE DISORDER | ClinVar Annotator: match by term: Infantile Sialic Acid Storage Disease | ClinVar Annotator: match by term: Infantile sialic acid storage disorder (ISSD) | ClinVar Annotator: match by term: N-Acetylneuraminic acid storage disease | ClinVar Annotator: match by term: NANA STORAGE DISEASE | ClinVar Annotator: match by term: Sialic acid storage disorder, infantile	PMID:10581036|PMID:10947946|PMID:12794688|PMID:15172001|PMID:15805149|PMID:16199547|PMID:17933575|PMID:24767253|PMID:24993898|PMID:25741868|PMID:28492532|PMID:33547378
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:24767253|PMID:24993898|PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24767253|PMID:24993898|PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9006650	Anisocoria		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anisocoria	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9007573	Flatfoot		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9007661	Dwarfism		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9007817	Macroglossia		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24767253|PMID:24993898|PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1322823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonimmune hydrops fetalis	PMID:25741868
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:9840	esotropia		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophoria	
1311388	Slc17a5	solute carrier family 17 member 5	gene	DOID:988	mitral valve prolapse		ISO	RGD:1322823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	
1311389	Abhd2	abhydrolase domain containing 2, acylglycerol lipase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311389	Abhd2	abhydrolase domain containing 2, acylglycerol lipase	gene	DOID:10534	stomach cancer		ISO	RGD:1322825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311389	Abhd2	abhydrolase domain containing 2, acylglycerol lipase	gene	DOID:1324	lung cancer		ISO	RGD:1322825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311389	Abhd2	abhydrolase domain containing 2, acylglycerol lipase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311389	Abhd2	abhydrolase domain containing 2, acylglycerol lipase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311389	Abhd2	abhydrolase domain containing 2, acylglycerol lipase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311389	Abhd2	abhydrolase domain containing 2, acylglycerol lipase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311389	Abhd2	abhydrolase domain containing 2, acylglycerol lipase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322827	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:10534	stomach cancer		ISO	RGD:1322827	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:11111	hydronephrosis		ISO	RGD:1322827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:10803838|PMID:16166641|PMID:21908431|PMID:25741868|PMID:28492532
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:1115	sarcoma		ISO	RGD:1322827	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:3070	high grade glioma		ISO	RGD:1322827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:3275	thymoma		ISO	RGD:1322827	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:4362	cervical cancer		ISO	RGD:1322827	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322827	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:5812	MHC class II deficiency		ISO	RGD:1322827	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency	PMID:10803838|PMID:11313409|PMID:12618906|PMID:16166641|PMID:16199547|PMID:17576681|PMID:21908431|PMID:22524894|PMID:22863278|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7951244|PMID:9536098|PMID:9806546
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:5812	MHC class II deficiency		ISO	RGD:1322827	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: MHC class II deficiency	PMID:10803838|PMID:16166641|PMID:16199547|PMID:17576681|PMID:21908431|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30170160|PMID:9536098
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1322827	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322827	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1322827	D	RGD:1599746|PMID:12618906	20070213	RGD			
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:630	genetic disease		ISO	RGD:1322827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10803838|PMID:16166641|PMID:16199547|PMID:21908431|PMID:28492532|PMID:32135276
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:7998	hyperthyroidism		ISO	RGD:1322827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:824	periodontitis		ISO	RGD:1322827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:28492532
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:9001733	Tinnitus		ISO	RGD:1322827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:9007736	Vertigo		ISO	RGD:1322827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:9008421	Epistaxis		ISO	RGD:1322827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:9008744	MHC CLASS II DEFICIENCY 3		ISO	RGD:1322827	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group C	PMID:25741868
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:9008745	MHC CLASS II DEFICIENCY 2		ISO	RGD:1322827	D	RGD:7240710	20240619	OMIM			
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:9008745	MHC CLASS II DEFICIENCY 2		ISO	RGD:1322827	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: MHC CLASS II DEFICIENCY 2 | ClinVar Annotator: match by term: MHC class II deficiency 2 | ClinVar Annotator: match by term: RFXANK-related condition	PMID:10803838|PMID:12618906|PMID:16166641|PMID:16199547|PMID:17576681|PMID:21908431|PMID:22524894|PMID:22863278|PMID:25741868|PMID:27980538|PMID:28492532|PMID:28916186|PMID:32373116|PMID:34330684|PMID:9536098|PMID:9806546
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:9009158	MHC CLASS II DEFICIENCY 1		ISO	RGD:1322827	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: MHC class II deficiency 1	PMID:25741868
1311390	Rfxank	regulatory factor X-associated ankyrin-containing protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322827	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:0060267	pontocerebellar hypoplasia type 2A		ISO	RGD:1605366	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2A	PMID:25741868
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:0060271	pontocerebellar hypoplasia type 2E		ISO	RGD:1605366	D	RGD:7240710	20140911	OMIM			
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:0060271	pontocerebellar hypoplasia type 2E		ISO	RGD:1605366	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2E | ClinVar Annotator: match by term: VPS53-related condition	PMID:17576681|PMID:24577744|PMID:25741868|PMID:26357016|PMID:28492532|PMID:28567303|PMID:30100179|PMID:31418091|PMID:9536098
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:10534	stomach cancer		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:1115	sarcoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:1324	lung cancer		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:3275	thymoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:4362	cervical cancer		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1605366	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:630	genetic disease		ISO	RGD:1605366	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32368696
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605366	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311391	Vps53	VPS53 subunit of GARP complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311392	Il17rb	interleukin 17 receptor B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311392	Il17rb	interleukin 17 receptor B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311392	Il17rb	interleukin 17 receptor B	gene	DOID:10534	stomach cancer		ISO	RGD:1322830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311392	Il17rb	interleukin 17 receptor B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311392	Il17rb	interleukin 17 receptor B	gene	DOID:2841	asthma		ISO	RGD:1622351	D	RGD:39128256|PMID:25273095	20201218	RGD		associated with Picornaviridae Infections	
1311392	Il17rb	interleukin 17 receptor B	gene	DOID:3082	interstitial lung disease		ISO	RGD:1322830	D	RGD:631734365|PMID:32686186	20260127	RGD		associated with diffuse scleroderma; protein:increased expression:dermis	
1311392	Il17rb	interleukin 17 receptor B	gene	DOID:4362	cervical cancer		ISO	RGD:1322830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311392	Il17rb	interleukin 17 receptor B	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1322830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311392	Il17rb	interleukin 17 receptor B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311392	Il17rb	interleukin 17 receptor B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311392	Il17rb	interleukin 17 receptor B	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1322830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311392	Il17rb	interleukin 17 receptor B	gene	DOID:9256	colorectal cancer		ISO	RGD:1322830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311393	Lman2l	lectin, mannose-binding 2-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311393	Lman2l	lectin, mannose-binding 2-like	gene	DOID:0061042	autosomal dominant intellectual developmental disorder 69		ISO	RGD:1322831	D	RGD:7240710	20220720	OMIM			
1311393	Lman2l	lectin, mannose-binding 2-like	gene	DOID:0061042	autosomal dominant intellectual developmental disorder 69		ISO	RGD:1322831	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 69	
1311393	Lman2l	lectin, mannose-binding 2-like	gene	DOID:0081215	autosomal recessive intellectual developmental disorder 52		ISO	RGD:1322831	D	RGD:7240710	20220304	OMIM			
1311393	Lman2l	lectin, mannose-binding 2-like	gene	DOID:0081215	autosomal recessive intellectual developmental disorder 52		ISO	RGD:1322831	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 52	PMID:25741868
1311393	Lman2l	lectin, mannose-binding 2-like	gene	DOID:1115	sarcoma		ISO	RGD:1322831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311393	Lman2l	lectin, mannose-binding 2-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311393	Lman2l	lectin, mannose-binding 2-like	gene	DOID:3312	bipolar disorder		ISO	RGD:1322831	D	RGD:11554173	20220304	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
1311393	Lman2l	lectin, mannose-binding 2-like	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1322831	D	RGD:11554173	20220304	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
1311393	Lman2l	lectin, mannose-binding 2-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311393	Lman2l	lectin, mannose-binding 2-like	gene	DOID:6039	uveal melanoma		ISO	RGD:1322831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311393	Lman2l	lectin, mannose-binding 2-like	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322831	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:10534	stomach cancer		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:1115	sarcoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:1324	lung cancer		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:1909	melanoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:3275	thymoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:4362	cervical cancer		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1322834	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311395	Pgap6	post-GPI attachment to proteins 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311396	Serinc2	serine incorporator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311396	Serinc2	serine incorporator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311396	Serinc2	serine incorporator 2	gene	DOID:1115	sarcoma		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311396	Serinc2	serine incorporator 2	gene	DOID:1324	lung cancer		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311396	Serinc2	serine incorporator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322836	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311396	Serinc2	serine incorporator 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311396	Serinc2	serine incorporator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311396	Serinc2	serine incorporator 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311396	Serinc2	serine incorporator 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311396	Serinc2	serine incorporator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311396	Serinc2	serine incorporator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311396	Serinc2	serine incorporator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311397	Slc41a1	solute carrier family 41 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311397	Slc41a1	solute carrier family 41 member 1	gene	DOID:1909	melanoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311397	Slc41a1	solute carrier family 41 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311397	Slc41a1	solute carrier family 41 member 1	gene	DOID:3275	thymoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311397	Slc41a1	solute carrier family 41 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311397	Slc41a1	solute carrier family 41 member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311397	Slc41a1	solute carrier family 41 member 1	gene	DOID:9006423	Nephronophthisis-like Nephropathy 2		ISO	RGD:1322838	D	RGD:7240710	20210818	OMIM			
1311397	Slc41a1	solute carrier family 41 member 1	gene	DOID:9006423	Nephronophthisis-like Nephropathy 2		ISO	RGD:1322838	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 2	PMID:25741868
1311397	Slc41a1	solute carrier family 41 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311397	Slc41a1	solute carrier family 41 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311398	Il17f	interleukin 17F	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1322840	D	RGD:631734364|PMID:24393079	20260127	RGD		DNA:SNPs, haplotype: :p.Glu126Gly (7383A>G, rs2397084), p.His161Arg  (7488A>G, rs763780)	
1311398	Il17f	interleukin 17F	gene	DOID:1024	leprosy		ISO	RGD:1322840	D	RGD:631734352|PMID:22847545	20260127	RGD		protein:increased expression:blood serum	
1311398	Il17f	interleukin 17F	gene	DOID:1024	leprosy		ISO	RGD:1322840	D	RGD:631734355|PMID:24164796	20260127	RGD		DNA:SNP:cds:7488T>C (rs763780)	
1311398	Il17f	interleukin 17F	gene	DOID:1024	leprosy		ISO	RGD:1322840	D	RGD:632518408|PMID:28875310	20260213	RGD		mRNA:increased expression:skin	
1311398	Il17f	interleukin 17F	gene	DOID:10316	pneumoconiosis		ISO	RGD:1322840	D	RGD:632518404|PMID:31256521	20260213	RGD		DNA:SNP: :rs763780	
1311398	Il17f	interleukin 17F	gene	DOID:10325	silicosis		ISO	RGD:1322840	D	RGD:631734356|PMID:25374205	20260127	RGD		DNA:SNP: :488A>G	
1311398	Il17f	interleukin 17F	gene	DOID:10325	silicosis	disease_progression	ISO	RGD:1322840	D	RGD:631734361|PMID:28481151	20260127	RGD		DNA:SNP: :7488A>G	
1311398	Il17f	interleukin 17F	gene	DOID:10325	silicosis	no_association	ISO	RGD:1322840	D	RGD:631734356|PMID:25374205	20260127	RGD		DNA:SNP: :-832A>G	
1311398	Il17f	interleukin 17F	gene	DOID:10325	silicosis	treatment	ISO	RGD:1322841	D	RGD:632518405|PMID:39550922	20260213	RGD			
1311398	Il17f	interleukin 17F	gene	DOID:1324	lung cancer		ISO	RGD:1322840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311398	Il17f	interleukin 17F	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	treatment	ISO	RGD:1322841	D	RGD:632518409|PMID:17198762	20260213	RGD			
1311398	Il17f	interleukin 17F	gene	DOID:13891	bird fancier's lung		ISO	RGD:1322841	D	RGD:632518366|PMID:31830693	20260206	RGD		protein:increased expression:respiratory system fluid/secretion	
1311398	Il17f	interleukin 17F	gene	DOID:1580	diffuse scleroderma	severity	ISO	RGD:1322840	D	RGD:631734365|PMID:32686186	20260127	RGD		protein:increased expression:blood, serum	
1311398	Il17f	interleukin 17F	gene	DOID:1852	intrahepatic cholestasis	treatment	IEP		D	RGD:645122479|PMID:28646179	20260406	RGD			
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma		IEP		D	RGD:632527159|PMID:35202642	20260223	RGD		associated with obesity;mRNA:increased expression:lung	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma		ISO	RGD:1322840	D	RGD:631734353|PMID:32754484	20260127	RGD		mRNA, protein:increased expression:blood serum	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma		ISO	RGD:1322840	D	RGD:631734359|PMID:22312940	20260127	RGD		protein:increased expression:blood plasma	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma		ISO	RGD:1322840	D	RGD:632517865|PMID:21196754	20260130	RGD		DNA:SNPs, haplotype:promoter:rs763780, rs1889570	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma		ISO	RGD:1322840	D	RGD:632517866|PMID:27931975	20260130	RGD		protein:increased expression:bronchial mucosa, nasal cavity mucosa	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma		ISO	RGD:1322840	D	RGD:632517869|PMID:30036556	20260130	RGD		DNA:SNP: :rs763780	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma		ISO	RGD:1322840	D	RGD:632517871|PMID:32849611	20260130	RGD		associated with obesity; protein:increased expression:blood serum	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma		ISO	RGD:1322840	D	RGD:632518359|PMID:20538817	20260206	RGD		protein:increased expression:submucosa of bronchus	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma		ISO	RGD:1322840	D	RGD:632527146|PMID:35325374	20260223	RGD		DNA:SNP, haplotype: :7488T>C (rs763780)	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma	no_association	ISO	RGD:1322840	D	RGD:631734358|PMID:22812194	20260127	RGD		DNA:SNP: :rs13209590	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma	no_association	ISO	RGD:1322840	D	RGD:631734359|PMID:22312940	20260127	RGD		DNA:SNPs: :rs763780, rs11465553, rs2397084	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma	onset	ISO	RGD:1322840	D	RGD:632517867|PMID:30304965	20260130	RGD		protein:increased expression:blood serum	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma	severity	ISO	RGD:1322840	D	RGD:632517872|PMID:24960440	20260130	RGD		protein:increased expression:blood serum	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma	sexual_dimorphism	ISO	RGD:1322840	D	RGD:631734358|PMID:22812194	20260127	RGD		DNA:SNP, haplotype: :rs763780	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma	sexual_dimorphism	ISO	RGD:1322840	D	RGD:632517869|PMID:30036556	20260130	RGD		DNA:SNPs, haplotype: :rs763780, rs2397084	
1311398	Il17f	interleukin 17F	gene	DOID:2841	asthma	treatment	ISO	RGD:1322841	D	RGD:631734360|PMID:30655284	20260127	RGD			
1311398	Il17f	interleukin 17F	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1322840	D	RGD:11056279|PMID:26045845	20260127	RGD		DNA:SNP: :rs763780	
1311398	Il17f	interleukin 17F	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1322840	D	RGD:11343814|PMID:26345782	20260127	RGD		DNA:SNP: :rs763780	
1311398	Il17f	interleukin 17F	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1322840	D	RGD:632518361|PMID:23219503	20260206	RGD		DNA:SNPs: :rs1889570, rs763780	
1311398	Il17f	interleukin 17F	gene	DOID:2957	pulmonary tuberculosis	no_association	ISO	RGD:1322840	D	RGD:11056279|PMID:26045845	20260127	RGD		DNA:SNP: :rs9382084	
1311398	Il17f	interleukin 17F	gene	DOID:2957	pulmonary tuberculosis	no_association	ISO	RGD:1322840	D	RGD:632517873|PMID:34958532	20260130	RGD		DNA:SNP: :rs763780	
1311398	Il17f	interleukin 17F	gene	DOID:2957	pulmonary tuberculosis	no_association	ISO	RGD:1322840	D	RGD:632518361|PMID:23219503	20260206	RGD		DNA:SNP: :rs2275913	
1311398	Il17f	interleukin 17F	gene	DOID:2957	pulmonary tuberculosis	treatment	ISO	RGD:1322840	D	RGD:632518378|PMID:36483566	20260210	RGD		DNA:SNP: :rs7741835	
1311398	Il17f	interleukin 17F	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1322840	D	RGD:631734362|PMID:21477350	20260127	RGD		protein:increased expression:subsegmental bronchus	
1311398	Il17f	interleukin 17F	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1322840	D	RGD:632518362|PMID:25844618	20260206	RGD		protein:increased expression:lung	
1311398	Il17f	interleukin 17F	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	IEP		D	RGD:645122473|PMID:38048893	20260403	RGD			
1311398	Il17f	interleukin 17F	gene	DOID:3310	atopic dermatitis	severity	ISO	RGD:1322840	D	RGD:631734366|PMID:26155368	20260127	RGD		protein:increased expression:blood serum	
1311398	Il17f	interleukin 17F	gene	DOID:4481	allergic rhinitis		ISO	RGD:1322840	D	RGD:632518407|PMID:19968632	20260213	RGD		protein:increased expression:respiratory system fluid/secretion	
1311398	Il17f	interleukin 17F	gene	DOID:5295	intestinal disease	treatment	IEP		D	RGD:645122481|PMID:31496325	20260406	RGD		associated with Acute Experimental Pancreatitis	
1311398	Il17f	interleukin 17F	gene	DOID:8577	ulcerative colitis	treatment	IEP		D	RGD:645122471|PMID:32202709	20260403	RGD			
1311398	Il17f	interleukin 17F	gene	DOID:874	bacterial pneumonia	treatment	IEP		D	RGD:645122478|PMID:31614857	20260406	RGD		associated with Pseudomonas Infections	
1311398	Il17f	interleukin 17F	gene	DOID:9000109	Haemophilus Infections		ISO	RGD:1322841	D	RGD:632527160|PMID:33778054	20260224	RGD		protein:increased expression:lung	
1311398	Il17f	interleukin 17F	gene	DOID:9000222	neutrophilic asthma		ISO	RGD:1322840	D	RGD:632518367|PMID:34825300	20260206	RGD		protein:increased expression:sputum, blood serum	
1311398	Il17f	interleukin 17F	gene	DOID:9000310	Lung Injury		ISO	RGD:1322841	D	RGD:632518363|PMID:21858022	20260206	RGD		mRNA:increased expression:lung	
1311398	Il17f	interleukin 17F	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1322840	D	RGD:632518365|PMID:29311948	20260223	RGD		associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus, blood	
1311398	Il17f	interleukin 17F	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	IEP		D	RGD:151665755|PMID:30346985	20260403	RGD			
1311398	Il17f	interleukin 17F	gene	DOID:9002129	Candidiasis, Familial, 6		ISO	RGD:1322840	D	RGD:7240710	20140903	OMIM			
1311398	Il17f	interleukin 17F	gene	DOID:9002129	Candidiasis, Familial, 6		ISO	RGD:1322840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Candidiasis, familial, 6 | ClinVar Annotator: match by term: IL17F-related condition	PMID:16199547|PMID:17576681|PMID:18769923|PMID:20618772|PMID:21350122|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29458167|PMID:30290665|PMID:32047491|PMID:32185379|PMID:34587561|PMID:35753512|PMID:35874679|PMID:9536098
1311398	Il17f	interleukin 17F	gene	DOID:9002457	Experimental Arthritis	treatment	IEP		D	RGD:645122482|PMID:30851579	20260406	RGD			
1311398	Il17f	interleukin 17F	gene	DOID:9002513	Hypoproteinemia		ISO	RGD:1322840	D	RGD:632518378|PMID:36483566	20260210	RGD		associated with pulmonary tuberculosis;DNA:SNP: :rs763780	
1311398	Il17f	interleukin 17F	gene	DOID:9003369	Strongylida Infections		ISO	RGD:1322840	D	RGD:632518403|PMID:26542223	20260213	RGD		associated with Latent Tuberculosis, protein:decreased expression:blood plasma	
1311398	Il17f	interleukin 17F	gene	DOID:9004610	Acute Lung Injury	treatment	IEP		D	RGD:631734363|PMID:32916233	20260209	RGD			
1311398	Il17f	interleukin 17F	gene	DOID:9004610	Acute Lung Injury	treatment	IEP		D	RGD:632518406|PMID:24548428	20260213	RGD			
1311398	Il17f	interleukin 17F	gene	DOID:9005723	Multibacillary Leprosy	no_association	ISO	RGD:1322840	D	RGD:632518360|PMID:25431761	20260206	RGD		DNA:SNP: :7488A>G (rs763780)	
1311398	Il17f	interleukin 17F	gene	DOID:9006014	Peritoneal Adhesions	treatment	IEP		D	RGD:645122472|PMID:31281407	20260403	RGD			
1311398	Il17f	interleukin 17F	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1322840	D	RGD:632518365|PMID:29311948	20260206	RGD		protein:increased expression:mucosa of ethmoidal sinus	
1311398	Il17f	interleukin 17F	gene	DOID:9009419	digital ulcer		ISO	RGD:1322840	D	RGD:631734365|PMID:32686186	20260210	RGD		associated with systemic scleroderma;protein:increased expression:blood serum	
1311398	Il17f	interleukin 17F	gene	DOID:9415	allergic asthma		ISO	RGD:1322840	D	RGD:631734354|PMID:28606156	20260127	RGD		mRNA, protein:increased expression:blood serum	
1311398	Il17f	interleukin 17F	gene	DOID:9415	allergic asthma		ISO	RGD:1322841	D	RGD:632517875|PMID:23653970	20260130	RGD		mRNA:increased expression:lung	
1311398	Il17f	interleukin 17F	gene	DOID:9415	allergic asthma	severity	ISO	RGD:1322840	D	RGD:632518364|PMID:25394579	20260206	RGD		protein:increased expression:respiratory system lamina propria	
1311398	Il17f	interleukin 17F	gene	DOID:9415	allergic asthma	treatment	ISO	RGD:1322841	D	RGD:631734357|PMID:17541285	20260127	RGD			
1311399	Ppcs	phosphopantothenoylcysteine synthetase	gene	DOID:0081159	dilated cardiomyopathy 2C		ISO	RGD:1605955	D	RGD:7240710	20190315	OMIM			
1311400	Atg16l2	autophagy related 16-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311400	Atg16l2	autophagy related 16-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311400	Atg16l2	autophagy related 16-like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311400	Atg16l2	autophagy related 16-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311400	Atg16l2	autophagy related 16-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311400	Atg16l2	autophagy related 16-like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606757	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311400	Atg16l2	autophagy related 16-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311400	Atg16l2	autophagy related 16-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311400	Atg16l2	autophagy related 16-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311400	Atg16l2	autophagy related 16-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:10534	stomach cancer		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:1909	melanoma		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:4362	cervical cancer		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:6039	uveal melanoma		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311401	Prpf40a	pre-mRNA processing factor 40A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311403	Rrs1	regulator of ribosome synthesis 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1322847	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1311403	Rrs1	regulator of ribosome synthesis 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1322847	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1311404	Cops8	COP9 signalosome subunit 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311404	Cops8	COP9 signalosome subunit 8	gene	DOID:3070	high grade glioma		ISO	RGD:1322849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311404	Cops8	COP9 signalosome subunit 8	gene	DOID:3275	thymoma		ISO	RGD:1322849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311404	Cops8	COP9 signalosome subunit 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1322849	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311404	Cops8	COP9 signalosome subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311404	Cops8	COP9 signalosome subunit 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322849	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311404	Cops8	COP9 signalosome subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311404	Cops8	COP9 signalosome subunit 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:1115	sarcoma		ISO	RGD:1322851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:1324	lung cancer		ISO	RGD:1322851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:3275	thymoma		ISO	RGD:1322851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:4362	cervical cancer		ISO	RGD:1322851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1322851	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311405	Ankrd16	ankyrin repeat domain 16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311406	Ncr2	natural cytotoxicity triggering receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311408	Gprc5c	G protein-coupled receptor, class C, group 5, member C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311408	Gprc5c	G protein-coupled receptor, class C, group 5, member C	gene	DOID:1909	melanoma		ISO	RGD:1322855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311408	Gprc5c	G protein-coupled receptor, class C, group 5, member C	gene	DOID:3275	thymoma		ISO	RGD:1322855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311408	Gprc5c	G protein-coupled receptor, class C, group 5, member C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311408	Gprc5c	G protein-coupled receptor, class C, group 5, member C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322857	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311409	Ppp6r1	protein phosphatase 6, regulatory subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:10534	stomach cancer		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:1324	lung cancer		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:1909	melanoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:3275	thymoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:5041	esophageal cancer		ISO	RGD:1322859	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311410	Rngtt	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311411	Ppie	peptidylprolyl isomerase E	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311411	Ppie	peptidylprolyl isomerase E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311411	Ppie	peptidylprolyl isomerase E	gene	DOID:1115	sarcoma		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311411	Ppie	peptidylprolyl isomerase E	gene	DOID:1324	lung cancer		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311411	Ppie	peptidylprolyl isomerase E	gene	DOID:3275	thymoma		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311411	Ppie	peptidylprolyl isomerase E	gene	DOID:4362	cervical cancer		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311411	Ppie	peptidylprolyl isomerase E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311411	Ppie	peptidylprolyl isomerase E	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311411	Ppie	peptidylprolyl isomerase E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311411	Ppie	peptidylprolyl isomerase E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311411	Ppie	peptidylprolyl isomerase E	gene	DOID:9256	colorectal cancer		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:0050659	biotin-responsive basal ganglia disease		ISO	RGD:1322863	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15871139
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:0050659	biotin-responsive basal ganglia disease		ISO	RGD:1322863	D	RGD:7240710	20130731	OMIM			
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:0050659	biotin-responsive basal ganglia disease		ISO	RGD:1322863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE | ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease | ClinVar Annotator: match by term: Biotin-thiamine-responsive basal ganglia disease | ClinVar Annotator: match by term: thiamine-responsive encephalopathy	PMID:15871139|PMID:16199547|PMID:16790503|PMID:17576681|PMID:20065143|PMID:22777947|PMID:23423671|PMID:23482991|PMID:23589815|PMID:23742248|PMID:24099834|PMID:24166474|PMID:24372704|PMID:24667528|PMID:24957181|PMID:25741868|PMID:26077850|PMID:26443248|PMID:26467025|PMID:26657515|PMID:26863430|PMID:26938784|PMID:26975589|PMID:27290639|PMID:27629047|PMID:27749535|PMID:27841215|PMID:27896110|PMID:27905264|PMID:28402605|PMID:28492532|PMID:28518168|PMID:28671688|PMID:28677371|PMID:28696212|PMID:28856750|PMID:29101630|PMID:29287834|PMID:31061755|PMID:31130284|PMID:31967322|PMID:32020600|PMID:32034746|PMID:32461654|PMID:32600842|PMID:32679198|PMID:34077649|PMID:34276785|PMID:34302356|PMID:34490615|PMID:34631424|PMID:34992632|PMID:35094435|PMID:36175418|PMID:36544340|PMID:36657988|PMID:37597066|PMID:37628588|PMID:37645600|PMID:37670342|PMID:38053933|PMID:38129218|PMID:38279250|PMID:38703036|PMID:40336053|PMID:9536098
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:0050659	biotin-responsive basal ganglia disease		ISS	RGD:1551788	D	RGD:13592920	20230718	MouseDO		OMIM:607483	
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:1322863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis, type 1	PMID:23423671|PMID:23482991|PMID:25741868|PMID:28492532|PMID:32020600|PMID:32600842|PMID:34077649|PMID:34490615
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:12849	autistic disorder		ISO	RGD:1322863	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism	PMID:23423671|PMID:23482991|PMID:25741868|PMID:28492532|PMID:32020600|PMID:32600842|PMID:34077649|PMID:34490615
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:1826	epilepsy		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26863430|PMID:26938784|PMID:28492532|PMID:34631424
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:3070	high grade glioma		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:3652	Leigh disease		ISO	RGD:12390482	D	RGD:9068941	20250116	OMIA		Necrotising encephalopathy, subacute, of Leigh	PMID:10664957|PMID:10912920|PMID:19466433|PMID:23469184|PMID:25117056|PMID:33081289|PMID:34544496|PMID:38003185|PMID:8844603
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:543	dystonia		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:630	genetic disease		ISO	RGD:1322863	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15871139|PMID:23423671|PMID:23482991|PMID:23742248|PMID:24166474|PMID:25741868|PMID:27629047|PMID:27749535|PMID:27905264|PMID:28402605|PMID:28492532|PMID:28518168|PMID:32461654
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:679	basal ganglia disease		ISO	RGD:1322863	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19387023
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:784	chronic kidney disease		IEP		D	RGD:7327184|PMID:21149507	20130913	RGD		mRNA:decreased expression:liver, heart, jejunum (rat)	
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:23423671|PMID:23482991|PMID:24957181|PMID:25741868|PMID:26863430|PMID:26938784|PMID:28492532|PMID:34631424
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:25741868|PMID:28492532
1311413	Slc19a3	solute carrier family 19 member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23423671|PMID:23482991|PMID:24957181|PMID:25741868|PMID:26863430|PMID:26938784|PMID:28492532|PMID:34631424
1311414	Zcchc4	zinc finger CCHC-type containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311414	Zcchc4	zinc finger CCHC-type containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311414	Zcchc4	zinc finger CCHC-type containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1322864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311414	Zcchc4	zinc finger CCHC-type containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1322864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311414	Zcchc4	zinc finger CCHC-type containing 4	gene	DOID:1909	melanoma		ISO	RGD:1322864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311414	Zcchc4	zinc finger CCHC-type containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311414	Zcchc4	zinc finger CCHC-type containing 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1322864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311414	Zcchc4	zinc finger CCHC-type containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322864	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311414	Zcchc4	zinc finger CCHC-type containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311414	Zcchc4	zinc finger CCHC-type containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311414	Zcchc4	zinc finger CCHC-type containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311414	Zcchc4	zinc finger CCHC-type containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311415	Eef1b2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311415	Eef1b2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:1059	intellectual disability		ISO	RGD:1322866	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1311415	Eef1b2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:1059	intellectual disability		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1311415	Eef1b2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:1115	sarcoma		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311415	Eef1b2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:1324	lung cancer		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311415	Eef1b2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311415	Eef1b2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311415	Eef1b2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311415	Eef1b2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311415	Eef1b2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:630	genetic disease		ISO	RGD:1322866	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311415	Eef1b2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1322866	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005|PMID:20562527
1311415	Eef1b2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311415	Eef1b2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322866	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311415	Eef1b2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322866	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0002116	pterygium		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pterygium	PMID:25741868
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:19814614|PMID:25741868|PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0060058	lymphoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0060642	recessive dystrophic epidermolysis bullosa		IMP		D	RGD:598130078|PMID:38722855	20250918	RGD			
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0060642	recessive dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive epidermolysis bullosa dystrophica inversa | ClinVar Annotator: match by term: Dystrophic Epidermolysis Bullosa, Recessive | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Hallopeau-Siemens Disease | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: epidermolysis bullosa dystrophica, autosomal recessive | ClinVar Annotator: match by term: recessive dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: severe generalized recessive dystrophic epidermolysis bullosa	PMID:10084325|PMID:10383749|PMID:10408773|PMID:10469344|PMID:10504458|PMID:10836608|PMID:10944088|PMID:11000732|PMID:11167698|PMID:11378329|PMID:11698408|PMID:11781296|PMID:12228020|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15509587|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16439963|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17576681|PMID:17916216|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19197535|PMID:19344236|PMID:19643583|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20184583|PMID:20555349|PMID:20598510|PMID:21113014|PMID:21182502|PMID:21448560|PMID:22058051|PMID:22070715|PMID:22209565|PMID:22266148|PMID:23237810|PMID:23688405|PMID:23786535|PMID:24033266|PMID:24210835|PMID:24213372|PMID:24252097|PMID:24533879|PMID:24794830|PMID:24899116|PMID:24947307|PMID:24989707|PMID:25088787|PMID:25284350|PMID:25683012|PMID:25703736|PMID:25741868|PMID:25877244|PMID:26168399|PMID:26289024|PMID:26446410|PMID:26467025|PMID:26612796|PMID:26707537|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29229433|PMID:29334134|PMID:29364557|PMID:29427316|PMID:29473190|PMID:29512197|PMID:29531004|PMID:29753707|PMID:30280950|PMID:30467950|PMID:30924923|PMID:31001817|PMID:31589614|PMID:31670143|PMID:31786163|PMID:32484238|PMID:32506467|PMID:32707200|PMID:33258232|PMID:33274474|PMID:33587123|PMID:33969388|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34597860|PMID:34674926|PMID:34826142|PMID:35149000|PMID:35150601|PMID:35222512|PMID:35347281|PMID:35979658|PMID:36287101|PMID:36340603|PMID:36419915|PMID:36430820|PMID:37067131|PMID:37302620|PMID:37556444|PMID:38264431|PMID:38368142|PMID:38484894|PMID:39141798|PMID:40701620|PMID:7695699|PMID:7861014|PMID:7883979|PMID:8037207|PMID:8218237|PMID:8513326|PMID:8592061|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9666834|PMID:9740253|PMID:9892921
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0060642	recessive dystrophic epidermolysis bullosa		ISS	RGD:1322870	D	RGD:13592920	20180518	MouseDO		OMIM:226600	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0060735	generalized severe epidermolysis bullosa simplex 1A		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe	PMID:15576681|PMID:16971478|PMID:17229600|PMID:25741868|PMID:28492532|PMID:9636098
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080082	nonsyndromic congenital nail disorder 4		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANONYCHIA TOTALIS	PMID:10408773|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16971478|PMID:19681861|PMID:20598510|PMID:22266148|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33274474|PMID:34230977|PMID:35979658|PMID:8755915
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080086	nonsyndromic congenital nail disorder 8		ISO	RGD:1322869	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080086	nonsyndromic congenital nail disorder 8		ISO	RGD:1322869	D	RGD:7240710	20131030	OMIM			
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080086	nonsyndromic congenital nail disorder 8		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 8 | ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED	PMID:10084325|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11167698|PMID:11781296|PMID:12228020|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16439963|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18429782|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20598510|PMID:21182502|PMID:21448560|PMID:22058051|PMID:22266148|PMID:23237810|PMID:24033266|PMID:24210835|PMID:24213372|PMID:25703736|PMID:25741868|PMID:25877244|PMID:26446410|PMID:26467025|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29427316|PMID:29473190|PMID:29531004|PMID:30280950|PMID:30467950|PMID:30924923|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33587123|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34826142|PMID:35222512|PMID:35979658|PMID:36287101|PMID:36419915|PMID:7695699|PMID:8218237|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9536098|PMID:9666834|PMID:9740253
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:7240710	20130221	OMIM			
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant	PMID:10232408|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11167698|PMID:11710955|PMID:11781296|PMID:12228020|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16439963|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18429782|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20598510|PMID:21182502|PMID:21448560|PMID:22058051|PMID:22266148|PMID:22481662|PMID:23237810|PMID:24033266|PMID:24210835|PMID:24213372|PMID:2425097|PMID:25703736|PMID:25741868|PMID:26446410|PMID:26467025|PMID:27746867|PMID:27899325|PMID:28297147|PMID:28492532|PMID:28830826|PMID:29427316|PMID:29473190|PMID:29531004|PMID:29963685|PMID:30280950|PMID:30467950|PMID:30924923|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33587123|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34826142|PMID:35222512|PMID:35979658|PMID:36287101|PMID:36419915|PMID:37827535|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8644729|PMID:8752681|PMID:8755915|PMID:9242516|PMID:9284110|PMID:9536098|PMID:9666834|PMID:9856843
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa		ISS	RGD:1322870	D	RGD:13592920	20250731	MouseDO		OMIM:131750	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080988	pretibial dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080988	pretibial dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:7240710	20130221	OMIM			
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0080988	pretibial dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, PRETIBIAL | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa	PMID:10084325|PMID:10232408|PMID:10408773|PMID:10504458|PMID:10836608|PMID:10944088|PMID:11167698|PMID:11378329|PMID:11781296|PMID:12228020|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16439963|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18429782|PMID:18440202|PMID:18565177|PMID:19197535|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20598510|PMID:21182502|PMID:21448560|PMID:22058051|PMID:22266148|PMID:22481662|PMID:23237810|PMID:24033266|PMID:24210835|PMID:24213372|PMID:24794830|PMID:25284350|PMID:25703736|PMID:25741868|PMID:25877244|PMID:26289024|PMID:26446410|PMID:26467025|PMID:27746867|PMID:27899325|PMID:28297147|PMID:28492532|PMID:28830826|PMID:29427316|PMID:29473190|PMID:29531004|PMID:30280950|PMID:30467950|PMID:30924923|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33587123|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34826142|PMID:35222512|PMID:35979658|PMID:36287101|PMID:36419915|PMID:37827535|PMID:39141798|PMID:7695699|PMID:7861014|PMID:8218237|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9536098|PMID:9666834|PMID:9740253|PMID:9892921
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0111162	epidermal nevus		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermal nevus	PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0111345	transient bullous dermolysis of the newborn		ISO	RGD:1322869	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0111345	transient bullous dermolysis of the newborn		ISO	RGD:1322869	D	RGD:7240710	20130221	OMIM			
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0111345	transient bullous dermolysis of the newborn		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | ClinVar Annotator: match by term: TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn	PMID:10084325|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11167698|PMID:11781296|PMID:12228020|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16439963|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18429782|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20598510|PMID:21182502|PMID:21448560|PMID:22058051|PMID:22266148|PMID:23106673|PMID:23237810|PMID:24033266|PMID:24210835|PMID:24213372|PMID:25703736|PMID:25741868|PMID:25877244|PMID:26446410|PMID:26467025|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29427316|PMID:29473190|PMID:29531004|PMID:30280950|PMID:30467950|PMID:30924923|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33587123|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34826142|PMID:35222512|PMID:35979658|PMID:36287101|PMID:36419915|PMID:7695699|PMID:8218237|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9406826|PMID:9536098|PMID:9666834|PMID:9740253
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails		ISO	RGD:1322869	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails		ISO	RGD:1322869	D	RGD:7240710	20130221	OMIM			
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE	PMID:10084325|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11167698|PMID:11781296|PMID:12228020|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16439963|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18429782|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20598510|PMID:21182502|PMID:21448560|PMID:22058051|PMID:22266148|PMID:23237810|PMID:24033266|PMID:24210835|PMID:24213372|PMID:25703736|PMID:25741868|PMID:26446410|PMID:26467025|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29427316|PMID:29473190|PMID:29531004|PMID:30280950|PMID:30467950|PMID:30924923|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33587123|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34826142|PMID:35222512|PMID:35979658|PMID:36287101|PMID:36419915|PMID:7695699|PMID:8218237|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9536098|PMID:9666834
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:10907	microcephaly		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:12787275|PMID:16971478|PMID:22266148|PMID:25741868|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29753707|PMID:35979658|PMID:36287101|PMID:37556444|PMID:38368142|PMID:8037207
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:11720	distal myopathy		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:12787275|PMID:16971478|PMID:22266148|PMID:25741868|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29753707|PMID:35979658|PMID:36287101|PMID:37556444|PMID:38368142|PMID:8037207
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Duane anomaly	PMID:11167698|PMID:12228020|PMID:16439963|PMID:19344236|PMID:21448560|PMID:22058051|PMID:25741868|PMID:27746867|PMID:27899325|PMID:28492532|PMID:30924923|PMID:34435747|PMID:7695699|PMID:8218237
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:12849	autistic disorder		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:21448560|PMID:22058051|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:1697	ichthyosis		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:25741868
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:19814614|PMID:25741868|PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplasia cutis congenita	PMID:25741868|PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2154	nephroblastoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephroblastoma	PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:21448560|PMID:22058051|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta type 1	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2355	anemia		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:16971478|PMID:25741868|PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2394	ovarian cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2730	epidermolysis bullosa		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa	PMID:25741868
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868|PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:2975	cystic kidney disease		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1322869	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30381462
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4603	epidermolytic hyperkeratosis		ISO	RGD:1322869	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Epidermolytic ichthyosis	PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4959	epidermolysis bullosa dystrophica		ISO	RGD:1322869	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: marker/mechanism	PMID:32947957
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4959	epidermolysis bullosa dystrophica		ISO	RGD:1322869	D	RGD:7240710	20131030	OMIM			
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4959	epidermolysis bullosa dystrophica		ISO	RGD:1322869	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica	PMID:10084325|PMID:10383749|PMID:10408773|PMID:10469344|PMID:10504458|PMID:10583163|PMID:10836608|PMID:10944088|PMID:10980546|PMID:11167698|PMID:11378329|PMID:11698408|PMID:11710955|PMID:11781296|PMID:11843659|PMID:11874498|PMID:12207583|PMID:12485454|PMID:12653705|PMID:12735646|PMID:12787275|PMID:12813757|PMID:15509587|PMID:15550148|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16439963|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17282977|PMID:17425959|PMID:17495952|PMID:17501948|PMID:17576681|PMID:17916216|PMID:18030675|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19197535|PMID:19344236|PMID:19439919|PMID:19665875|PMID:19681861|PMID:19694003|PMID:19694005|PMID:19726672|PMID:19814614|PMID:20108398|PMID:20108428|PMID:20184583|PMID:20357813|PMID:20585476|PMID:20598510|PMID:20920254|PMID:21124339|PMID:21269315|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22070715|PMID:22209565|PMID:22266148|PMID:23237810|PMID:23397949|PMID:23786535|PMID:23947675|PMID:24032424|PMID:24033266|PMID:24170138|PMID:24210835|PMID:24213372|PMID:2425097|PMID:24252097|PMID:24279917|PMID:24317394|PMID:24577406|PMID:24599399|PMID:24794830|PMID:24831336|PMID:24947307|PMID:25155989|PMID:25201089|PMID:25222259|PMID:25284350|PMID:25525159|PMID:25556825|PMID:25741868|PMID:25819062|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26143532|PMID:26148662|PMID:26446410|PMID:26467025|PMID:26612796|PMID:26763448|PMID:26864810|PMID:27153395|PMID:27544590|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:28853495|PMID:29130490|PMID:29229433|PMID:29242947|PMID:29272047|PMID:29334134|PMID:29364557|PMID:29427316|PMID:29473190|PMID:29500833|PMID:29963685|PMID:30280950|PMID:31001817|PMID:31090061|PMID:31670143|PMID:31709745|PMID:31786163|PMID:31930626|PMID:32383240|PMID:32484238|PMID:32506467|PMID:32860008|PMID:33274474|PMID:33587123|PMID:33969388|PMID:34046686|PMID:34230977|PMID:34435747|PMID:34674926|PMID:34826142|PMID:34948168|PMID:35432467|PMID:35885431|PMID:35979658|PMID:36287101|PMID:36430820|PMID:5910871|PMID:7577595|PMID:7695699|PMID:7833933|PMID:7861014|PMID:8037207|PMID:8088783|PMID:8218237|PMID:8345225|PMID:8592061|PMID:8618004|PMID:8618018|PMID:8618021|PMID:8644729|PMID:8644730|PMID:8752681|PMID:8755915|PMID:8900535|PMID:9042157|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9740253|PMID:9804332|PMID:9856844|PMID:9881948|PMID:9892921
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4959	epidermolysis bullosa dystrophica		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica	PMID:10084325|PMID:10233777|PMID:10367729|PMID:10383749|PMID:10383751|PMID:10408773|PMID:10469344|PMID:1050445|PMID:10504458|PMID:10836608|PMID:10944088|PMID:10980546|PMID:11000732|PMID:11167698|PMID:11260189|PMID:11698408|PMID:11710955|PMID:11722462|PMID:11781296|PMID:11843659|PMID:12207583|PMID:12228020|PMID:12485454|PMID:12653705|PMID:12735646|PMID:12787275|PMID:12813757|PMID:14616374|PMID:15113589|PMID:15115517|PMID:15509587|PMID:15807692|PMID:15816848|PMID:15888141|PMID:16185268|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16439963|PMID:16470588|PMID:16484981|PMID:16500083|PMID:16533235|PMID:16871478|PMID:16965329|PMID:16965439|PMID:16971478|PMID:17073998|PMID:17282977|PMID:17425959|PMID:17434045|PMID:17495952|PMID:17501948|PMID:17576681|PMID:17916216|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19197535|PMID:19344236|PMID:19439919|PMID:19643583|PMID:19665875|PMID:19681861|PMID:19694003|PMID:19694005|PMID:19726672|PMID:19814614|PMID:20060269|PMID:20108398|PMID:20108428|PMID:20184583|PMID:20357813|PMID:20376098|PMID:20555349|PMID:20585476|PMID:20598510|PMID:20818854|PMID:20920254|PMID:21113014|PMID:21124339|PMID:21182502|PMID:21196708|PMID:21382783|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22209565|PMID:22266148|PMID:22352907|PMID:22382802|PMID:22854212|PMID:23013315|PMID:23237810|PMID:23786535|PMID:23947675|PMID:24032424|PMID:24033266|PMID:24075228|PMID:24170138|PMID:24210835|PMID:24213372|PMID:2425097|PMID:24252097|PMID:24317394|PMID:24577406|PMID:24599399|PMID:24794830|PMID:24947307|PMID:24989707|PMID:25088787|PMID:25155989|PMID:25201089|PMID:25222259|PMID:25525159|PMID:25556825|PMID:25683012|PMID:25703736|PMID:25741868|PMID:25819062|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26143532|PMID:26148662|PMID:26289024|PMID:26446410|PMID:26467025|PMID:26595603|PMID:26612796|PMID:26707537|PMID:26763448|PMID:26864810|PMID:27130450|PMID:27149842|PMID:27544590|PMID:27746867|PMID:27899325|PMID:28008652|PMID:28492532|PMID:28549954|PMID:28830826|PMID:28853495|PMID:29229433|PMID:29242947|PMID:29272047|PMID:29326176|PMID:29334134|PMID:29364557|PMID:29427316|PMID:29473190|PMID:29500833|PMID:29531004|PMID:29753707|PMID:29963685|PMID:30011071|PMID:30194425|PMID:30280950|PMID:30467950|PMID:30549102|PMID:30693469|PMID:30924923|PMID:31001817|PMID:31090061|PMID:31130284|PMID:31167965|PMID:31215591|PMID:31557321|PMID:31578311|PMID:31634165|PMID:31670143|PMID:31670199|PMID:31786163|PMID:31930626|PMID:32191290|PMID:32250485|PMID:32383240|PMID:32484238|PMID:32506467|PMID:32537942|PMID:32694622|PMID:32707200|PMID:32946877|PMID:32978145|PMID:33258232|PMID:33274474|PMID:33502061|PMID:33587123|PMID:33796225|PMID:33969388|PMID:33974636|PMID:34008892|PMID:34046686|PMID:34230977|PMID:34286919|PMID:34435747|PMID:34458008|PMID:34543471|PMID:34597860|PMID:34671977|PMID:34674926|PMID:34826142|PMID:34930662|PMID:34948168|PMID:35121199|PMID:35149000|PMID:35222512|PMID:35314946|PMID:35347281|PMID:35432467|PMID:35446444|PMID:35581191|PMID:35598269|PMID:35656234|PMID:35690907|PMID:35779740|PMID:35779741|PMID:35950135|PMID:35979658|PMID:36287101|PMID:36340603|PMID:36385635|PMID:36419915|PMID:36430820|PMID:36578049|PMID:36809127|PMID:36880304|PMID:36964991|PMID:37067131|PMID:37302620|PMID:37556444|PMID:37623260|PMID:37827535|PMID:38237731|PMID:38264431|PMID:38272206|PMID:38368142|PMID:38378365|PMID:38462666|PMID:38484894|PMID:38735484|PMID:38803406|PMID:38820176|PMID:39039807|PMID:39141798|PMID:39167390|PMID:39355753|PMID:40013374|PMID:40025372|PMID:40701620|PMID:5910871|PMID:7695699|PMID:7833933|PMID:7861014|PMID:8037207|PMID:8170945|PMID:8218237|PMID:8288900|PMID:8592061|PMID:8618004|PMID:8618018|PMID:8618021|PMID:8644729|PMID:8644730|PMID:8752681|PMID:8755915|PMID:8900535|PMID:9042157|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9326325|PMID:9347800|PMID:9375848|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9740253|PMID:9804332|PMID:9856844|PMID:9881948|PMID:9892921
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:4959	epidermolysis bullosa dystrophica	susceptibility	ISO	RGD:1322869	D	RGD:1600946|PMID:8275094	20070402	RGD		DNA:insertion-deletion	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:11000732|PMID:16199547|PMID:16971478|PMID:18951764|PMID:19643583|PMID:19814614|PMID:22266148|PMID:25741868|PMID:28492532|PMID:35979658|PMID:9326325
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:19814614|PMID:25741868|PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:576	proteinuria		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:19814614|PMID:25741868|PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10232408|PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:19681861|PMID:21448560|PMID:22058051|PMID:22481662|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28297147|PMID:28492532|PMID:29963685|PMID:35979658|PMID:37827535|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:687	hepatoblastoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:12787275|PMID:15509587|PMID:16484981|PMID:16971478|PMID:18450758|PMID:19344236|PMID:21448560|PMID:22058051|PMID:22266148|PMID:24252097|PMID:25741868|PMID:28492532|PMID:28830826|PMID:29229433|PMID:35979658|PMID:36287101|PMID:7695699|PMID:8218237|PMID:8592061|PMID:9326325
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9000363	Hematuria		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:21448560|PMID:22058051|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9000373	Muscle Cramp		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: muscle cramp	PMID:10383749|PMID:10504458|PMID:16199547|PMID:16971478|PMID:22209565|PMID:24989707|PMID:25741868|PMID:28492532|PMID:29364557
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9000918	Disease Progression		ISO	RGD:1322869	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30381462
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:12787275|PMID:15509587|PMID:16484981|PMID:16971478|PMID:18450758|PMID:19344236|PMID:21448560|PMID:22058051|PMID:22266148|PMID:24252097|PMID:25741868|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29229433|PMID:29753707|PMID:35979658|PMID:36287101|PMID:37556444|PMID:38368142|PMID:7695699|PMID:8037207|PMID:8218237|PMID:8592061|PMID:9326325
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9003984	Hyperpigmentation		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperpigmentation	PMID:12787275|PMID:16971478|PMID:22266148|PMID:25741868|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29753707|PMID:35979658|PMID:36287101|PMID:37556444|PMID:38368142|PMID:8037207
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9004739	Cicatrix		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scarring	PMID:12787275|PMID:16971478|PMID:19344236|PMID:22058051|PMID:22266148|PMID:24794830|PMID:25741868|PMID:26289024|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29753707|PMID:35979658|PMID:36287101|PMID:37556444|PMID:38368142|PMID:39141798|PMID:7695699|PMID:7861014|PMID:8037207|PMID:8218237|PMID:9892921
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9005695	Malnutrition		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malnutrition	PMID:16971478|PMID:25741868|PMID:28492532
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9005879	Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant	PMID:10408773|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16971478|PMID:19681861|PMID:20598510|PMID:22266148|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33274474|PMID:34230977|PMID:35979658|PMID:8755915
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9006202	Pruritus		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pruritus	PMID:19344236|PMID:22058051|PMID:24794830|PMID:25741868|PMID:26289024|PMID:28492532|PMID:28830826|PMID:35979658|PMID:7695699|PMID:7861014|PMID:8218237|PMID:9892921
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9006711	Epidermolysis Bullosa Pruriginosa		ISO	RGD:1322869	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9006711	Epidermolysis Bullosa Pruriginosa		ISO	RGD:1322869	D	RGD:7240710	20130221	OMIM			
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9006711	Epidermolysis Bullosa Pruriginosa		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive	PMID:10084325|PMID:10233777|PMID:10383749|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11167698|PMID:11781296|PMID:12228020|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16439963|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18429782|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20598510|PMID:21182502|PMID:21448560|PMID:22058051|PMID:22209565|PMID:22266148|PMID:23237810|PMID:24033266|PMID:24210835|PMID:24213372|PMID:24989707|PMID:25703736|PMID:25741868|PMID:25877244|PMID:26143532|PMID:26446410|PMID:26467025|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29364557|PMID:29427316|PMID:29473190|PMID:29531004|PMID:30280950|PMID:30467950|PMID:30924923|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33587123|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34597860|PMID:34826142|PMID:35222512|PMID:35979658|PMID:36287101|PMID:36419915|PMID:38368142|PMID:7695699|PMID:8218237|PMID:8644729|PMID:8755915|PMID:9182828|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9536098|PMID:9666834|PMID:9740253|PMID:9881948
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:10383749|PMID:10504458|PMID:16199547|PMID:16971478|PMID:22209565|PMID:24989707|PMID:25741868|PMID:28492532|PMID:29364557
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9007661	Dwarfism		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12787275|PMID:16971478|PMID:22266148|PMID:25741868|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29753707|PMID:35979658|PMID:36287101|PMID:37556444|PMID:38368142|PMID:8037207
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:21448560|PMID:22058051|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1322869	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322869	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
1311417	Col7a1	collagen type VII alpha 1 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1322869	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1311419	Dmtn	dematin actin binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322873	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311419	Dmtn	dematin actin binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1322873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311419	Dmtn	dematin actin binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1322873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311419	Dmtn	dematin actin binding protein	gene	DOID:1909	melanoma		ISO	RGD:1322873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311419	Dmtn	dematin actin binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311419	Dmtn	dematin actin binding protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311419	Dmtn	dematin actin binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311419	Dmtn	dematin actin binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311420	Zfp574	zinc finger protein 574	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311420	Zfp574	zinc finger protein 574	gene	DOID:0080600	COVID-19		ISO	RGD:1322875	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311420	Zfp574	zinc finger protein 574	gene	DOID:10534	stomach cancer		ISO	RGD:1322875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311420	Zfp574	zinc finger protein 574	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311422	Hid1	HID1 domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311422	Hid1	HID1 domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311422	Hid1	HID1 domain containing	gene	DOID:0070391	developmental and epileptic encephalopathy 105		ISO	RGD:1322878	D	RGD:7240710	20220810	OMIM			
1311422	Hid1	HID1 domain containing	gene	DOID:0070391	developmental and epileptic encephalopathy 105		ISO	RGD:1322878	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 105 with hypopituitarism	PMID:25741868
1311422	Hid1	HID1 domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311422	Hid1	HID1 domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311422	Hid1	HID1 domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1322878	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311422	Hid1	HID1 domain containing	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311422	Hid1	HID1 domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311422	Hid1	HID1 domain containing	gene	DOID:630	genetic disease		ISO	RGD:1322878	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28600779
1311422	Hid1	HID1 domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311422	Hid1	HID1 domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311424	Gpatch11	G patch domain containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311424	Gpatch11	G patch domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311424	Gpatch11	G patch domain containing 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311424	Gpatch11	G patch domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311424	Gpatch11	G patch domain containing 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311425	Ifna2	interferon alpha 2	gene	DOID:10459	common cold	treatment	ISO		D	RGD:40886344|PMID:6381610	20201207	RGD			
1311425	Ifna2	interferon alpha 2	gene	DOID:2043	hepatitis B	treatment	ISO		D	RGD:21406432|PMID:8509638	20201207	RGD			
1311425	Ifna2	interferon alpha 2	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO		D	RGD:40886308|PMID:9187562	20201207	RGD			
1311425	Ifna2	interferon alpha 2	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO		D	RGD:40886310|PMID:9310930	20201207	RGD			
1311425	Ifna2	interferon alpha 2	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO		D	RGD:40886311|PMID:17881538	20201207	RGD		associated with end stage renal disease	
1311425	Ifna2	interferon alpha 2	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO		D	RGD:40886313|PMID:8868074	20201207	RGD			
1311425	Ifna2	interferon alpha 2	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO		D	RGD:40886314|PMID:21272456	20201207	RGD			
1311425	Ifna2	interferon alpha 2	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO		D	RGD:40886316|PMID:19152412	20201207	RGD			
1311425	Ifna2	interferon alpha 2	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO		D	RGD:40886318|PMID:7493300	20201207	RGD			
1311425	Ifna2	interferon alpha 2	gene	DOID:9008163	Chronic Hepatitis B	susceptibility	ISO		D	RGD:40886317|PMID:22610944	20201207	RGD		DNA:SNP:exon: p.Ala120Thr (human)	
1311427	Fancl	FA complementation group L	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1322885	D	RGD:11049143|PMID:17409780	20160707	RGD			
1311427	Fancl	FA complementation group L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311427	Fancl	FA complementation group L	gene	DOID:0111082	Fanconi anemia complementation group L		ISO	RGD:1322885	D	RGD:7240710	20140911	OMIM			
1311427	Fancl	FA complementation group L	gene	DOID:0111082	Fanconi anemia complementation group L		ISO	RGD:1322885	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP L | ClinVar Annotator: match by term: Fanconi anemia complementation group L	PMID:12973351|PMID:16199547|PMID:17576681|PMID:17938197|PMID:19111657|PMID:19405097|PMID:23613520|PMID:24389026|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26740942|PMID:28492532|PMID:28767289|PMID:29416752|PMID:29478780|PMID:30995915|PMID:31513304|PMID:32420600|PMID:32789750|PMID:33960719|PMID:36894310|PMID:9536098
1311427	Fancl	FA complementation group L	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1322885	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A	PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514|PMID:36135330|PMID:9536098
1311427	Fancl	FA complementation group L	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1322885	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group A	PMID:17576681|PMID:19405097|PMID:23613520|PMID:25741868|PMID:28492532|PMID:9536098
1311427	Fancl	FA complementation group L	gene	DOID:10534	stomach cancer		ISO	RGD:1322885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311427	Fancl	FA complementation group L	gene	DOID:1115	sarcoma		ISO	RGD:1322885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311427	Fancl	FA complementation group L	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322885	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12973351|PMID:19405097
1311427	Fancl	FA complementation group L	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322885	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:16199547|PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28492532|PMID:29335925|PMID:29478780|PMID:29625052|PMID:30995915|PMID:31300551|PMID:31513304|PMID:32789750|PMID:34008892|PMID:9536098
1311427	Fancl	FA complementation group L	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322885	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:16199547|PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29416752|PMID:29478780|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31942411|PMID:31980526|PMID:32008151|PMID:32235514|PMID:32420600|PMID:32789750|PMID:34008892|PMID:34647594|PMID:9536098
1311427	Fancl	FA complementation group L	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322885	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:12973351|PMID:16199547|PMID:17576681|PMID:17938197|PMID:19111657|PMID:19405097|PMID:21279724|PMID:22720145|PMID:23613520|PMID:24033266|PMID:24389026|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26740942|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29416752|PMID:29478780|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31937788|PMID:31942411|PMID:31980526|PMID:32008151|PMID:32191290|PMID:32235514|PMID:32420600|PMID:32789750|PMID:33727708|PMID:34008892|PMID:34308104|PMID:34647594|PMID:35454841|PMID:9536098
1311427	Fancl	FA complementation group L	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322885	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:12973351|PMID:16199547|PMID:17576681|PMID:17938197|PMID:19111657|PMID:19405097|PMID:21279724|PMID:22720145|PMID:23613520|PMID:24033266|PMID:24389026|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26740942|PMID:26822237|PMID:26822949|PMID:27041517|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29416752|PMID:29478780|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31937788|PMID:31942411|PMID:31980526|PMID:32008151|PMID:32191290|PMID:32235514|PMID:32420600|PMID:32789750|PMID:33727708|PMID:34008892|PMID:34308104|PMID:34647594|PMID:35454841|PMID:9536098
1311427	Fancl	FA complementation group L	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322885	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:12973351|PMID:16199547|PMID:17576681|PMID:17938197|PMID:19111657|PMID:19405097|PMID:22720145|PMID:23613520|PMID:24033266|PMID:24389026|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28423363|PMID:28492532|PMID:28767289|PMID:29335925|PMID:29416752|PMID:29478780|PMID:29625052|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31937788|PMID:31942411|PMID:31980526|PMID:32008151|PMID:32191290|PMID:32420600|PMID:32789750|PMID:33727708|PMID:33960719|PMID:34008892|PMID:34308104|PMID:34647594|PMID:35454841|PMID:36622392|PMID:36894310|PMID:9536098
1311427	Fancl	FA complementation group L	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:12973351|PMID:16199547|PMID:17576681|PMID:17938197|PMID:19111657|PMID:19405097|PMID:23613520|PMID:24389026|PMID:25741868|PMID:26149689|PMID:26740942|PMID:27986371|PMID:28423363|PMID:28492532|PMID:28767289|PMID:29335925|PMID:29416752|PMID:29478780|PMID:29625052|PMID:30995915|PMID:31300551|PMID:31942411|PMID:32008151|PMID:32420600|PMID:32789750|PMID:33727708|PMID:34008892|PMID:34647594|PMID:35066699|PMID:9536098
1311427	Fancl	FA complementation group L	gene	DOID:13636	Fanconi anemia		ISS	RGD:1618380	D	RGD:13592920	20260423	MouseDO			
1311427	Fancl	FA complementation group L	gene	DOID:14450	46 XX gonadal dysgenesis		ISS	RGD:1618380	D	RGD:13592920	20180518	MouseDO		OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324	
1311427	Fancl	FA complementation group L	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1322885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1311427	Fancl	FA complementation group L	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311427	Fancl	FA complementation group L	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311427	Fancl	FA complementation group L	gene	DOID:4362	cervical cancer		ISO	RGD:1322885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311427	Fancl	FA complementation group L	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311427	Fancl	FA complementation group L	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311427	Fancl	FA complementation group L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311427	Fancl	FA complementation group L	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311427	Fancl	FA complementation group L	gene	DOID:630	genetic disease		ISO	RGD:1322885	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311427	Fancl	FA complementation group L	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322885	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary cancer	PMID:19405097|PMID:21279724|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514|PMID:36135330
1311427	Fancl	FA complementation group L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311427	Fancl	FA complementation group L	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:22608502|PMID:25741868|PMID:26768763|PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:0060025	immunoglobulin alpha deficiency		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IgA deficiency	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:0060058	lymphoma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:0060180	colitis		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colitis	PMID:22608502
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:0060879	primary hypomagnesemia		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:0081151	common variable immunodeficiency 8		ISO	RGD:1322886	D	RGD:7240710	20171011	OMIM			
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:0081151	common variable immunodeficiency 8		ISO	RGD:1322886	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity | ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY | ClinVar Annotator: match by term: LRBA-related condition	PMID:16199547|PMID:17576681|PMID:22608502|PMID:24033266|PMID:25741868|PMID:25931386|PMID:26206937|PMID:26768763|PMID:27379089|PMID:28197149|PMID:28492532|PMID:31887391|PMID:32135276|PMID:32154999|PMID:33942430|PMID:36950172|PMID:9536098
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868|PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:10534	stomach cancer		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:1059	intellectual disability		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:10608	celiac disease		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:22608502
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:10754	otitis media		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868|PMID:26206937|PMID:26768763|PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:17576681|PMID:28492532|PMID:9536098
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:1115	sarcoma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:1205	allergic disease		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:22608502
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:12849	autistic disorder		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:1324	lung cancer		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:13250	diarrhea		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exocrine pancreatic insufficiency	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:1432	blindness		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:1588	thrombocytopenia		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:1826	epilepsy		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:1909	melanoma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:2355	anemia		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:2841	asthma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:2843	long QT syndrome		ISO	RGD:1322886	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:3275	thymoma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:3310	atopic dermatitis		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:4362	cervical cancer		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:4989	pancreatitis		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatitis	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1322886	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:5419	schizophrenia		ISO	RGD:1322886	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:552	pneumonia		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:22608502|PMID:25741868|PMID:26206937|PMID:26768763|PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:583	hemolytic anemia		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868|PMID:26206937|PMID:26768763|PMID:28492532|PMID:28502825|PMID:30995531|PMID:32499645|PMID:32581362
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:630	genetic disease		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:718	autoimmune hemolytic anemia		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune hemolytic anemia	PMID:16199547|PMID:22608502|PMID:25741868|PMID:26206937|PMID:26768763|PMID:28492532|PMID:33481921|PMID:35413226
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:7998	hyperthyroidism		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:865	vasculitis		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:22608502
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune thrombocytopenia	PMID:25741868|PMID:26206937|PMID:26768763|PMID:28492532|PMID:33481921
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:16199547|PMID:25741868|PMID:26206937|PMID:26768763|PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9000582	Reticulocytosis		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Reticulocytosis	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9001767	Unilateral Hearing Loss		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral deafness	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9002720	Splenomegaly		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:22608502|PMID:25741868|PMID:28492532|PMID:33481921|PMID:35413226
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9003133	Hypertelorism		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9004150	Lymphadenopathy		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphadenopathy	PMID:25741868|PMID:33481921
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9004898	Jaundice		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9005695	Malnutrition		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malnutrition	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9008346	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY		ISO	RGD:1322886	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory tract infection	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9351	diabetes mellitus		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9563	bronchiectasis		ISO	RGD:1322886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	
1311428	Lrba	LPS responsive beige-like anchor protein	gene	DOID:9849	Meniere's disease		ISO	RGD:1322886	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0050843	oromandibular dystonia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oromandibular dystonia	PMID:25741868|PMID:26467025|PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0050880	Koolen de Vries syndrome		ISO	RGD:1605247	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0050880	Koolen de Vries syndrome		ISO	RGD:1605247	D	RGD:7240710	20171011	OMIM			
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0050880	Koolen de Vries syndrome		ISO	RGD:1605247	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: KANSL1-related condition | ClinVar Annotator: match by term: KOOLEN-DE VRIES SYNDROME | ClinVar Annotator: match by term: Koolen-de Vries syndrome	PMID:16199547|PMID:17576681|PMID:19447831|PMID:20301783|PMID:22544363|PMID:22544367|PMID:24056718|PMID:24088041|PMID:25640679|PMID:25741868|PMID:25741877|PMID:26306646|PMID:26424144|PMID:26467025|PMID:26633545|PMID:28211987|PMID:28440867|PMID:28492532|PMID:29225339|PMID:29655203|PMID:29758562|PMID:30293248|PMID:31267707|PMID:31273778|PMID:31278258|PMID:31440721|PMID:31785789|PMID:32371413|PMID:33004838|PMID:33050294|PMID:33393407|PMID:33442022|PMID:35727364|PMID:36150256|PMID:36475376|PMID:36529818|PMID:38177409|PMID:9536098
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0050880	Koolen de Vries syndrome		ISS	RGD:1322888	D	RGD:13592920	20241107	MouseDO		OMIM:610443	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605247	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:20301783|PMID:22544363|PMID:25741868|PMID:26306646|PMID:29225339
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0060260	ptosis		ISO	RGD:1605247	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:26424144
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1605247	D	RGD:8554872	20210615	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0070445	early-onset dystonia and/or spastic paraplegia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia	PMID:25741868|PMID:26467025|PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1605247	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:24056718|PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0080798	myeloid leukemia associated with Down Syndrome		ISO	RGD:1605247	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056718
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:0081337	congenital myopathy		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:24056718|PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1605247	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22544363|PMID:22544367
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1605247	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome	PMID:25741868|PMID:26424144|PMID:26467025|PMID:28492532|PMID:32371413|PMID:36529818
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1605247	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:20301783|PMID:24056718|PMID:25741868|PMID:26424144|PMID:26467025|PMID:28492532|PMID:32371413|PMID:33050294|PMID:36529818
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:10907	microcephaly		ISO	RGD:1605247	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:20301783|PMID:25741868|PMID:33050294
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:11111	hydronephrosis		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:11782	astigmatism		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:11830	myopia		ISO	RGD:1605247	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:26424144
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:12849	autistic disorder		ISO	RGD:1605247	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:20301783|PMID:22544363|PMID:25741868|PMID:26306646|PMID:28492532|PMID:29225339
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:24056718|PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:14264	benign neonatal seizures		ISO	RGD:1605247	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:25741868|PMID:28492532|PMID:31273778|PMID:36150256
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1555	urticaria		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urticaria	PMID:24056718|PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24056718|PMID:25741868|PMID:26424144|PMID:28492532|PMID:32371413|PMID:36529818
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:24056718|PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:26467025|PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:423	myopathy		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:24056718|PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605247	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:540	strabismus		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:22544363|PMID:22544367|PMID:25741868|PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:543	dystonia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb dystonia	PMID:25741868|PMID:26467025|PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605247	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:20301783|PMID:22544363|PMID:25741868|PMID:26306646|PMID:29225339
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24056718|PMID:25741868|PMID:26306646|PMID:26424144|PMID:26467025|PMID:28492532|PMID:32371413|PMID:36529818
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:767	muscular atrophy		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:24056718|PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:24056718|PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605247	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:26424144|PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9001581	Constipation		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:24056718|PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9001626	Chromosome 17 Deletion		ISO	RGD:1605247	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22544363|PMID:22544367
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1605247	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:20301783|PMID:22544363|PMID:24056718|PMID:25741868|PMID:26306646|PMID:29225339
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:22544363|PMID:22544367|PMID:25741868|PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral hemorrhage	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1605247	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043753
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605247	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:26424144|PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:24056718|PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605247	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605247	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22544363|PMID:22544367
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605247	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:20301783|PMID:24056718|PMID:25741868|PMID:28492532|PMID:31273778|PMID:36150256
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605247	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:20301783|PMID:22544363|PMID:24056718|PMID:25741868|PMID:26306646|PMID:28492532|PMID:29225339|PMID:31273778|PMID:36150256
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605247	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:20301783|PMID:22544363|PMID:24056718|PMID:25741868|PMID:26306646|PMID:26424144|PMID:28492532|PMID:29225339|PMID:31273778|PMID:36150256
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:24056718|PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24056718|PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9007817	Macroglossia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605247	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20301783|PMID:22544363|PMID:22544367|PMID:25741868|PMID:25741877|PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:22544363|PMID:22544367|PMID:25741868|PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1605247	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1605247	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22544363|PMID:22544367
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9008811	Tachypnea		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:24056718|PMID:25741868
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9834	hyperopia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:22544363|PMID:22544367|PMID:25741868|PMID:28492532
1311429	Kansl1	KAT8 regulatory NSL complex subunit 1	gene	DOID:9841	hypotropia		ISO	RGD:1605247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotropia	PMID:25741868
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:0060058	lymphoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:0080273	polycystic kidney disease 5		ISO	RGD:1344571	D	RGD:7240710	20190315	OMIM			
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:0080273	polycystic kidney disease 5		ISO	RGD:1344571	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: DZIP1L-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 5 | ClinVar Annotator: match by term: Polycystic kidney disease 5	PMID:25741868|PMID:28492532|PMID:28530676
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1344571	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28530676
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISS	RGD:1549981	D	RGD:13592920	20230718	MouseDO		OMIM:263200	
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:4362	cervical cancer		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1344571	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:630	genetic disease		ISO	RGD:1344571	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311430	Dzip1l	DAZ interacting zinc finger protein 1-like	gene	DOID:9256	colorectal cancer		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0060058	lymphoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0070131	autosomal dominant cutis laxa 3		ISO	RGD:1350073	D	RGD:7240710	20170301	OMIM			
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0070131	autosomal dominant cutis laxa 3		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3	PMID:11092761|PMID:16199547|PMID:17576681|PMID:21739576|PMID:22411858|PMID:23963297|PMID:24913064|PMID:25077174|PMID:25741868|PMID:26026163|PMID:26297557|PMID:26297558|PMID:27023906|PMID:28228640|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:30244529|PMID:31402623|PMID:31413120|PMID:31785789|PMID:32017139|PMID:32065947|PMID:32342562|PMID:32371413|PMID:33144682|PMID:34680056|PMID:34954732|PMID:35089622|PMID:35207755|PMID:35464835|PMID:35499206|PMID:36239107|PMID:9536098
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0070132	autosomal recessive cutis laxa type IIIA		ISO	RGD:1350073	D	RGD:13439710|PMID:25077174	20171011	RGD		DNA:mutations:cds:c.2246G>A(p.R749Q),c.2294G>A(p.R765Q)(human)	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0070132	autosomal recessive cutis laxa type IIIA		ISO	RGD:1350073	D	RGD:7240710	20171011	OMIM			
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0070132	autosomal recessive cutis laxa type IIIA		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA | ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A	PMID:16199547|PMID:17576681|PMID:21739576|PMID:22411858|PMID:23963297|PMID:24913064|PMID:25077174|PMID:25326637|PMID:25741868|PMID:26026163|PMID:26297557|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:30244529|PMID:31402623|PMID:31413120|PMID:31742715|PMID:31785789|PMID:32017139|PMID:32065947|PMID:32342562|PMID:32371413|PMID:33144682|PMID:34680056|PMID:35464835|PMID:35499206|PMID:36067040|PMID:9536098
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0070142	autosomal dominant cutis laxa		ISO	RGD:1350073	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0070143	autosomal recessive cutis laxa type III		ISO	RGD:1350073	D	RGD:13434922|PMID:24913064	20171009	RGD		DNA:deletions:cds:	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0070143	autosomal recessive cutis laxa type III		ISO	RGD:1350073	D	RGD:13434923|PMID:26320891	20171009	RGD		DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0070143	autosomal recessive cutis laxa type III		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: de Barsy syndrome	PMID:11092761|PMID:16199547|PMID:17576681|PMID:21739576|PMID:22411858|PMID:23963297|PMID:24913064|PMID:25077174|PMID:25741868|PMID:26026163|PMID:26297557|PMID:26297558|PMID:27023906|PMID:28228640|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:30244529|PMID:31402623|PMID:31413120|PMID:31785789|PMID:32017139|PMID:32065947|PMID:32342562|PMID:32371413|PMID:33144682|PMID:34680056|PMID:34954732|PMID:35089622|PMID:35207755|PMID:35464835|PMID:35499206|PMID:36239107|PMID:9536098
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25077174|PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0110810	hereditary spastic paraplegia 5A		ISO	RGD:1350073	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A	PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0110824	hereditary spastic paraplegia 9A		ISO	RGD:1350073	D	RGD:11056004|PMID:26297558	20171011	RGD		DNA:mutations:cds:p.V243L, p.R252Q(human)	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0110824	hereditary spastic paraplegia 9A		ISO	RGD:1350073	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0110824	hereditary spastic paraplegia 9A		ISO	RGD:1350073	D	RGD:7240710	20151021	OMIM			
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0110824	hereditary spastic paraplegia 9A		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 9A, autosomal dominant	PMID:25077174|PMID:25741868|PMID:26026163|PMID:26297558|PMID:26320891|PMID:26829900|PMID:28492532|PMID:31402623|PMID:31413120|PMID:32065947|PMID:34680056
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0110825	hereditary spastic paraplegia 9B		ISO	RGD:1350073	D	RGD:7240710	20170412	OMIM			
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:0110825	hereditary spastic paraplegia 9B		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia type 9B | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive	PMID:17576681|PMID:21739576|PMID:24913064|PMID:25077174|PMID:25741868|PMID:26026163|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:31402623|PMID:31413120|PMID:32065947|PMID:32798076|PMID:34680056|PMID:9536098
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:10534	stomach cancer		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:1059	intellectual disability		ISO	RGD:1350073	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:10907	microcephaly		ISO	RGD:1350073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:1115	sarcoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:11162	respiratory failure		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:21739576|PMID:24913064|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:11830	myopia		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:1283	enterocele		ISO	RGD:1350073	D	RGD:13434923|PMID:26320891	20171009	RGD		DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:12849	autistic disorder		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:1324	lung cancer		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:1596	depressive disorder		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression | ClinVar Annotator: match by term: Depressivity	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:1824	status epilepticus		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:1826	epilepsy		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25077174|PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:1909	melanoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:1924	hypogonadism		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:219	colon cancer		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:17576681|PMID:25741868|PMID:26026163|PMID:28492532|PMID:9536098
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1350073	D	RGD:13434921|PMID:26026163	20171009	RGD		DNA:mutations:cds:	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25077174|PMID:25741868|PMID:28492532|PMID:31413120|PMID:32065947|PMID:34680056
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:2841	asthma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:3275	thymoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1350073	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:4362	cervical cancer		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:480	movement disease		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350073	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:540	strabismus		ISO	RGD:1350073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:543	dystonia		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25077174|PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:630	genetic disease		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:21739576|PMID:24913064|PMID:25741868|PMID:26026163|PMID:26297558|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:31402623|PMID:35464835|PMID:35499206|PMID:9536098|PMID:9973297
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:83	cataract		ISO	RGD:1350073	D	RGD:13434923|PMID:26320891	20171009	RGD		DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:83	cataract		ISO	RGD:1350073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Cataracts	PMID:25741868|PMID:28228640
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:21739576|PMID:24913064|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1350073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9001722	Dysarthria		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:21739576|PMID:24913064|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9001733	Tinnitus		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9001734	Neurocutaneous Syndromes		ISO	RGD:1350073	D	RGD:13439711|PMID:18478038	20171011	RGD		DNA:missense mutation;exon:2350C>T(p.H784Y)(human)	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1350073	D	RGD:13434923|PMID:26320891	20171009	RGD		DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9003507	Premature Birth		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9005077	Joint Instability		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1350073	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:21739576|PMID:24913064|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:21739576|PMID:24913064|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9007736	Vertigo		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:25741868
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9256	colorectal cancer		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9834	hyperopia		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1311431	Aldh18a1	aldehyde dehydrogenase 18 family, member A1	gene	DOID:9970	obesity		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:0110262	cataract 45		ISO	RGD:1322892	D	RGD:7240710	20190315	OMIM			
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:0110262	cataract 45		ISO	RGD:1322892	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cataract 45 | ClinVar Annotator: match by term: SIPA1L3-related condition	PMID:25741868|PMID:28492532
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:1115	sarcoma		ISO	RGD:1322892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:1324	lung cancer		ISO	RGD:1322892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:1909	melanoma		ISO	RGD:1322892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:3275	thymoma		ISO	RGD:1322892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322892	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1322892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311432	Sipa1l3	signal-induced proliferation-associated 1 like 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:10534	stomach cancer		ISO	RGD:1601964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:1115	sarcoma		ISO	RGD:1601964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:1324	lung cancer		ISO	RGD:1601964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:1909	melanoma		ISO	RGD:1601964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:4362	cervical cancer		ISO	RGD:1601964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:5041	esophageal cancer		ISO	RGD:1601964	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311433	Mettl22	methyltransferase 22, Kin17 lysine	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311434	Ctnnal1	catenin alpha-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311434	Ctnnal1	catenin alpha-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311434	Ctnnal1	catenin alpha-like 1	gene	DOID:3275	thymoma		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311434	Ctnnal1	catenin alpha-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322895	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311434	Ctnnal1	catenin alpha-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311434	Ctnnal1	catenin alpha-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311434	Ctnnal1	catenin alpha-like 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311434	Ctnnal1	catenin alpha-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311434	Ctnnal1	catenin alpha-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311434	Ctnnal1	catenin alpha-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311435	Ap1ar	adaptor-related protein complex 1 associated regulatory protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311435	Ap1ar	adaptor-related protein complex 1 associated regulatory protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311435	Ap1ar	adaptor-related protein complex 1 associated regulatory protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311435	Ap1ar	adaptor-related protein complex 1 associated regulatory protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311436	Pfdn5	prefoldin subunit 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311436	Pfdn5	prefoldin subunit 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311436	Pfdn5	prefoldin subunit 5	gene	DOID:1115	sarcoma		ISO	RGD:1322898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311436	Pfdn5	prefoldin subunit 5	gene	DOID:4362	cervical cancer		ISO	RGD:1322898	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311436	Pfdn5	prefoldin subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311436	Pfdn5	prefoldin subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311436	Pfdn5	prefoldin subunit 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311437	Orc6	origin recognition complex, subunit 6	gene	DOID:0060306	Meier-Gorlin syndrome		ISO	RGD:1322900	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21358632
1311437	Orc6	origin recognition complex, subunit 6	gene	DOID:0080514	Meier-Gorlin syndrome 3		ISO	RGD:1322900	D	RGD:7240710	20190424	OMIM			
1311437	Orc6	origin recognition complex, subunit 6	gene	DOID:0080514	Meier-Gorlin syndrome 3		ISO	RGD:1322900	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 3 | ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 | ClinVar Annotator: match by term: ORC6-related condition	PMID:17576681|PMID:21358632|PMID:22333897|PMID:25741868|PMID:28492532|PMID:33262486|PMID:36012502|PMID:9536098
1311437	Orc6	origin recognition complex, subunit 6	gene	DOID:1115	sarcoma		ISO	RGD:1322900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311437	Orc6	origin recognition complex, subunit 6	gene	DOID:1909	melanoma		ISO	RGD:1322900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311437	Orc6	origin recognition complex, subunit 6	gene	DOID:3275	thymoma		ISO	RGD:1322900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311437	Orc6	origin recognition complex, subunit 6	gene	DOID:4362	cervical cancer		ISO	RGD:1322900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311437	Orc6	origin recognition complex, subunit 6	gene	DOID:630	genetic disease		ISO	RGD:1322900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311437	Orc6	origin recognition complex, subunit 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311437	Orc6	origin recognition complex, subunit 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1322900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311438	Pigh	phosphatidylinositol glycan anchor biosynthesis, class H	gene	DOID:10283	prostate cancer		ISO	RGD:1322902	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1311438	Pigh	phosphatidylinositol glycan anchor biosynthesis, class H	gene	DOID:9003249	Glycosylphosphatidylinositol Biosynthesis Defect 17		ISO	RGD:1322902	D	RGD:7240710	20190315	OMIM			
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0080000	muscular disease		ISO	RGD:1322904	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0081268	pulmonary venoocclusive disease 1		ISO	RGD:1322904	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1	PMID:24033266
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0081269	pulmonary venoocclusive disease 2		ISO	RGD:1322904	D	RGD:7240710	20141015	OMIM			
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0081269	pulmonary venoocclusive disease 2		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis | ClinVar Annotator: match by term: PULMONARY VENOOCCLUSIVE DISEASE 2 | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2	PMID:12215525|PMID:24135949|PMID:24292273|PMID:24310610|PMID:25512148|PMID:25741868|PMID:27684876|PMID:28492532|PMID:28972005|PMID:29631995|PMID:29743074|PMID:30285736|PMID:30679663|PMID:31711431|PMID:32581362|PMID:36451176
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:2914	immune system disease		ISO	RGD:1322904	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:3275	thymoma		ISO	RGD:1322904	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:421	hair disease		ISO	RGD:1322904	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322904	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:1322904	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:24292273
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:1322904	D	RGD:38549370|PMID:32209028	20200901	RGD		protein:decreased expression:lung	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5453	pulmonary venoocclusive disease	disease_progression	IEP		D	RGD:38549370|PMID:32209028	20200901	RGD			
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1322904	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1322904	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:24292273
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1322904	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:12215525|PMID:24135949|PMID:24292273|PMID:24310610|PMID:25741868|PMID:28492532|PMID:28972005|PMID:29743074|PMID:32581362
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311439	Eif2ak4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:1322904	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
1311440	Sccpdh	saccharopine dehydrogenase (putative)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311440	Sccpdh	saccharopine dehydrogenase (putative)	gene	DOID:1115	sarcoma		ISO	RGD:1606286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311440	Sccpdh	saccharopine dehydrogenase (putative)	gene	DOID:1909	melanoma		ISO	RGD:1606286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311440	Sccpdh	saccharopine dehydrogenase (putative)	gene	DOID:3070	high grade glioma		ISO	RGD:1606286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311440	Sccpdh	saccharopine dehydrogenase (putative)	gene	DOID:4362	cervical cancer		ISO	RGD:1606286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311440	Sccpdh	saccharopine dehydrogenase (putative)	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311440	Sccpdh	saccharopine dehydrogenase (putative)	gene	DOID:5041	esophageal cancer		ISO	RGD:1606286	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311440	Sccpdh	saccharopine dehydrogenase (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311440	Sccpdh	saccharopine dehydrogenase (putative)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311440	Sccpdh	saccharopine dehydrogenase (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311441	Wnt7b	Wnt family member 7B	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:1322906	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome	PMID:25741868
1311441	Wnt7b	Wnt family member 7B	gene	DOID:0111807	syndromic microphthalmia 9		ISO	RGD:1322906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia, syndromic 9	
1311441	Wnt7b	Wnt family member 7B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322906	D	RGD:2299932|PMID:9461004	20080821	RGD		superficial, NOT invasive	
1311441	Wnt7b	Wnt family member 7B	gene	DOID:1324	lung cancer		ISO	RGD:1322906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311441	Wnt7b	Wnt family member 7B	gene	DOID:1612	breast cancer		ISO	RGD:1322906	D	RGD:2298699|PMID:15492823	20080821	RGD			
1311441	Wnt7b	Wnt family member 7B	gene	DOID:1618	breast fibroadenoma		ISO	RGD:1322906	D	RGD:2291878|PMID:8168088	20080821	RGD			
1311441	Wnt7b	Wnt family member 7B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311441	Wnt7b	Wnt family member 7B	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1322907	D	RGD:2298863|PMID:8065359	20080729	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	
1311441	Wnt7b	Wnt family member 7B	gene	DOID:9005233	Experimental Mammary Neoplasms	no_association	ISO	RGD:1322907	D	RGD:2298848|PMID:9419423	20080729	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	
1311443	Rras	RAS related	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1322910	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26457647
1311443	Rras	RAS related	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311443	Rras	RAS related	gene	DOID:0080600	COVID-19		ISO	RGD:1322910	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311443	Rras	RAS related	gene	DOID:10534	stomach cancer		ISO	RGD:1322910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311443	Rras	RAS related	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311443	Rras	RAS related	gene	DOID:3490	Noonan syndrome		ISO	RGD:1322910	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:17576681|PMID:24033266|PMID:24705357|PMID:25741868|PMID:28492532|PMID:28875981|PMID:9536098
1311443	Rras	RAS related	gene	DOID:3490	Noonan syndrome		ISO	RGD:1322910	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:17576681|PMID:24033266|PMID:24705357|PMID:25741868|PMID:28492532|PMID:28875981|PMID:33057194|PMID:9536098
1311443	Rras	RAS related	gene	DOID:3490	Noonan syndrome		ISO	RGD:1322910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:17576681|PMID:24033266|PMID:24705357|PMID:25741868|PMID:28492532|PMID:33057194|PMID:9536098
1311443	Rras	RAS related	gene	DOID:5041	esophageal cancer		ISO	RGD:1322910	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1311443	Rras	RAS related	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1311443	Rras	RAS related	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1322910	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1311443	Rras	RAS related	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868|PMID:28492532
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:10534	stomach cancer		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:1059	intellectual disability		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:10907	microcephaly		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:1115	sarcoma		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:1324	lung cancer		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:1909	melanoma		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603644	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:543	dystonia		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:630	genetic disease		ISO	RGD:1603644	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:9002494	Mitochondrial Myopathy with Lactic Acidosis		ISO	RGD:1603644	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:9002494	Mitochondrial Myopathy with Lactic Acidosis		ISO	RGD:1603644	D	RGD:7240710	20171011	OMIM			
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:9002494	Mitochondrial Myopathy with Lactic Acidosis		ISO	RGD:1603644	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS | ClinVar Annotator: match by term: Mitochondrial myopathy-lactic acidosis-deafness syndrome | ClinVar Annotator: match by term: PNPLA8-related condition	PMID:25512002|PMID:25741868|PMID:28492532|PMID:29681094|PMID:34782754
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:9006076	Epilepsia Partialis Continua		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsia partialis continua	PMID:25741868
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311444	Pnpla8	patatin like domain 8, phospholipase A2	gene	DOID:9256	colorectal cancer		ISO	RGD:1603644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1311445	Dus4l	dihydrouridine synthase 4-like	gene	DOID:0070261	congenital disorder of glycosylation type IIi		ISO	RGD:14702606	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: COG5-CDG	PMID:25741868
1311446	Prss3	serine protease 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734183	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15987713
1311447	Snorc	secondary ossification center associated regulator of chondrocyte maturation	gene	DOID:10534	stomach cancer		ISO	RGD:1606085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311447	Snorc	secondary ossification center associated regulator of chondrocyte maturation	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:0061113	retinitis pigmentosa 78		ISO	RGD:1322915	D	RGD:7240710	20190315	OMIM			
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:0061113	retinitis pigmentosa 78		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARHGEF18-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 78 | ClinVar Annotator: match by term: Retinitis pigmentosa 78	PMID:25741868|PMID:28132693|PMID:28492532|PMID:32581362
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:10534	stomach cancer		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:1115	sarcoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:1324	lung cancer		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:1909	melanoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:3070	high grade glioma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:4362	cervical cancer		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1322915	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:5723	optic atrophy		ISO	RGD:1322915	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:630	genetic disease		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322915	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:25741868|PMID:28132693|PMID:28492532
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311448	Arhgef18	Rho/Rac guanine nucleotide exchange factor 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322915	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311449	Tfip11	tuftelin interacting protein 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311449	Tfip11	tuftelin interacting protein 11	gene	DOID:0060058	lymphoma		ISO	RGD:1322916	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311449	Tfip11	tuftelin interacting protein 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311449	Tfip11	tuftelin interacting protein 11	gene	DOID:3275	thymoma		ISO	RGD:1322916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311449	Tfip11	tuftelin interacting protein 11	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311449	Tfip11	tuftelin interacting protein 11	gene	DOID:4362	cervical cancer		ISO	RGD:1322916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311449	Tfip11	tuftelin interacting protein 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1322916	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311449	Tfip11	tuftelin interacting protein 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311449	Tfip11	tuftelin interacting protein 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311449	Tfip11	tuftelin interacting protein 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322916	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311450	Rassf3	Ras association domain family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311450	Rassf3	Ras association domain family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311450	Rassf3	Ras association domain family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311450	Rassf3	Ras association domain family member 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322918	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1311450	Rassf3	Ras association domain family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311450	Rassf3	Ras association domain family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311450	Rassf3	Ras association domain family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311451	Nmral1	NmrA like redox sensor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311451	Nmral1	NmrA like redox sensor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311451	Nmral1	NmrA like redox sensor 1	gene	DOID:1909	melanoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311451	Nmral1	NmrA like redox sensor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311451	Nmral1	NmrA like redox sensor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311451	Nmral1	NmrA like redox sensor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311451	Nmral1	NmrA like redox sensor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311451	Nmral1	NmrA like redox sensor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311453	Cd101	CD101 molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1311453	Cd101	CD101 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311453	Cd101	CD101 molecule	gene	DOID:10534	stomach cancer		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311453	Cd101	CD101 molecule	gene	DOID:1115	sarcoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311453	Cd101	CD101 molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
1311453	Cd101	CD101 molecule	gene	DOID:3275	thymoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1311453	Cd101	CD101 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311453	Cd101	CD101 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311453	Cd101	CD101 molecule	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1311453	Cd101	CD101 molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1322923	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311453	Cd101	CD101 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311453	Cd101	CD101 molecule	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1311453	Cd101	CD101 molecule	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
1311453	Cd101	CD101 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311453	Cd101	CD101 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311453	Cd101	CD101 molecule	gene	DOID:9256	colorectal cancer		ISO	RGD:1322923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
1311454	Btbd16	BTB domain containing 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311454	Btbd16	BTB domain containing 16	gene	DOID:10283	prostate cancer		ISO	RGD:1322924	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1311454	Btbd16	BTB domain containing 16	gene	DOID:10283	prostate cancer		ISO	RGD:1322924	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1311454	Btbd16	BTB domain containing 16	gene	DOID:10534	stomach cancer		ISO	RGD:1322924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311454	Btbd16	BTB domain containing 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311454	Btbd16	BTB domain containing 16	gene	DOID:4362	cervical cancer		ISO	RGD:1322924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311454	Btbd16	BTB domain containing 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311454	Btbd16	BTB domain containing 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1322924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311455	Mapk1ip1l	mitogen-activated protein kinase 1 interacting protein 1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311455	Mapk1ip1l	mitogen-activated protein kinase 1 interacting protein 1-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1322925	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311455	Mapk1ip1l	mitogen-activated protein kinase 1 interacting protein 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311455	Mapk1ip1l	mitogen-activated protein kinase 1 interacting protein 1-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311455	Mapk1ip1l	mitogen-activated protein kinase 1 interacting protein 1-like	gene	DOID:9256	colorectal cancer		ISO	RGD:1322925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311456	Mindy2	MINDY lysine 48 deubiquitinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311456	Mindy2	MINDY lysine 48 deubiquitinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1607025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311456	Mindy2	MINDY lysine 48 deubiquitinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1607025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311456	Mindy2	MINDY lysine 48 deubiquitinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311456	Mindy2	MINDY lysine 48 deubiquitinase 2	gene	DOID:3275	thymoma		ISO	RGD:1607025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311456	Mindy2	MINDY lysine 48 deubiquitinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1607025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311456	Mindy2	MINDY lysine 48 deubiquitinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311458	Rmp64	ribonuclease MRP subunit p64	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311458	Rmp64	ribonuclease MRP subunit p64	gene	DOID:0080963	anauxetic dysplasia 3		ISO	RGD:1352471	D	RGD:7240710	20200520	OMIM			
1311458	Rmp64	ribonuclease MRP subunit p64	gene	DOID:0080963	anauxetic dysplasia 3		ISO	RGD:1352471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANAUXETIC DYSPLASIA 3 | ClinVar Annotator: match by term: NEPRO-related condition	PMID:25741868|PMID:28492532
1311458	Rmp64	ribonuclease MRP subunit p64	gene	DOID:10907	microcephaly		ISO	RGD:1352471	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311458	Rmp64	ribonuclease MRP subunit p64	gene	DOID:1324	lung cancer		ISO	RGD:1352471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311458	Rmp64	ribonuclease MRP subunit p64	gene	DOID:1909	melanoma		ISO	RGD:1352471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311458	Rmp64	ribonuclease MRP subunit p64	gene	DOID:3275	thymoma		ISO	RGD:1352471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311458	Rmp64	ribonuclease MRP subunit p64	gene	DOID:4362	cervical cancer		ISO	RGD:1352471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311458	Rmp64	ribonuclease MRP subunit p64	gene	DOID:5041	esophageal cancer		ISO	RGD:1352471	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311458	Rmp64	ribonuclease MRP subunit p64	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311458	Rmp64	ribonuclease MRP subunit p64	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311459	Nkd2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311459	Nkd2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:0060058	lymphoma		ISO	RGD:1322930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311459	Nkd2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311459	Nkd2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311459	Nkd2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322930	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311459	Nkd2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311459	Nkd2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311459	Nkd2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311461	Mmrn2	multimerin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311461	Mmrn2	multimerin 2	gene	DOID:1115	sarcoma		ISO	RGD:1322933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311461	Mmrn2	multimerin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311461	Mmrn2	multimerin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311461	Mmrn2	multimerin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322933	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311461	Mmrn2	multimerin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311461	Mmrn2	multimerin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311461	Mmrn2	multimerin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311462	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1311462	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:0112087	nuclear type mitochondrial complex I deficiency 23		ISO	RGD:1603389	D	RGD:7240710	20190315	OMIM			
1311462	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:0112087	nuclear type mitochondrial complex I deficiency 23		ISO	RGD:1603389	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 23	PMID:21617257|PMID:25741868|PMID:28454995|PMID:28492532|PMID:32341820|PMID:33715266|PMID:35141356
1311462	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:12849	autistic disorder		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1311462	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:1969	cerebral palsy		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1311462	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:3652	Leigh disease		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868|PMID:28492532
1311462	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:4362	cervical cancer		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311462	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311462	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:630	genetic disease		ISO	RGD:1603389	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311462	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1311462	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1311462	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:9004538	Hearing Loss		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1311462	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1311462	Ndufa12	NADH:ubiquinone oxidoreductase subunit A12	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1603389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:21617257|PMID:25741868|PMID:28454995|PMID:28492532|PMID:32341820|PMID:33715266|PMID:35141356
1311463	Arl14ep	ARF like GTPase 14 effector protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311463	Arl14ep	ARF like GTPase 14 effector protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311463	Arl14ep	ARF like GTPase 14 effector protein	gene	DOID:1059	intellectual disability		ISO	RGD:1602076	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1311463	Arl14ep	ARF like GTPase 14 effector protein	gene	DOID:10907	microcephaly		ISO	RGD:1602076	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311463	Arl14ep	ARF like GTPase 14 effector protein	gene	DOID:1115	sarcoma		ISO	RGD:1602076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311463	Arl14ep	ARF like GTPase 14 effector protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311463	Arl14ep	ARF like GTPase 14 effector protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311464	Fbxo39	F-box protein 39	gene	DOID:4362	cervical cancer		ISO	RGD:1322937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311464	Fbxo39	F-box protein 39	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311464	Fbxo39	F-box protein 39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311465	Lmln	leishmanolysin like peptidase	gene	DOID:10283	prostate cancer		ISO	RGD:1322938	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1311465	Lmln	leishmanolysin like peptidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311465	Lmln	leishmanolysin like peptidase	gene	DOID:1909	melanoma		ISO	RGD:1322938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311465	Lmln	leishmanolysin like peptidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1322938	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311465	Lmln	leishmanolysin like peptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311465	Lmln	leishmanolysin like peptidase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311465	Lmln	leishmanolysin like peptidase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311465	Lmln	leishmanolysin like peptidase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311465	Lmln	leishmanolysin like peptidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311466	Ccdc51	coiled-coil domain containing 51	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311466	Ccdc51	coiled-coil domain containing 51	gene	DOID:5041	esophageal cancer		ISO	RGD:1602866	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311466	Ccdc51	coiled-coil domain containing 51	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311466	Ccdc51	coiled-coil domain containing 51	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311466	Ccdc51	coiled-coil domain containing 51	gene	DOID:8501	fundus dystrophy		ISO	RGD:1602866	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1311466	Ccdc51	coiled-coil domain containing 51	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311466	Ccdc51	coiled-coil domain containing 51	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311467	Myct1	myc target 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311467	Myct1	myc target 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311467	Myct1	myc target 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311467	Myct1	myc target 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311467	Myct1	myc target 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311468	Slc16a12	solute carrier family 16, member 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311468	Slc16a12	solute carrier family 16, member 12	gene	DOID:0070353	cataract 47		ISO	RGD:1606094	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1311468	Slc16a12	solute carrier family 16, member 12	gene	DOID:0070353	cataract 47		ISO	RGD:1606094	D	RGD:7240710	20130221	OMIM			
1311468	Slc16a12	solute carrier family 16, member 12	gene	DOID:0070353	cataract 47		ISO	RGD:1606094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: SLC16A12-related condition	PMID:25741868|PMID:26694549|PMID:28492532|PMID:29088427
1311468	Slc16a12	solute carrier family 16, member 12	gene	DOID:12270	coloboma		ISO	RGD:1606094	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Coloboma	PMID:25741868|PMID:28492532
1311468	Slc16a12	solute carrier family 16, member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311469	Clk1	CDC-like kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311469	Clk1	CDC-like kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311469	Clk1	CDC-like kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311469	Clk1	CDC-like kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1322944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311469	Clk1	CDC-like kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1322944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311469	Clk1	CDC-like kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311469	Clk1	CDC-like kinase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1322944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311469	Clk1	CDC-like kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311469	Clk1	CDC-like kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311469	Clk1	CDC-like kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311469	Clk1	CDC-like kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311469	Clk1	CDC-like kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311469	Clk1	CDC-like kinase 1	gene	DOID:8469	influenza		ISO	RGD:1550637	D	RGD:155641258|PMID:34883209	20221107	RGD			
1311469	Clk1	CDC-like kinase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311470	Psmd3	proteasome 26S subunit, non-ATPase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311470	Psmd3	proteasome 26S subunit, non-ATPase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311470	Psmd3	proteasome 26S subunit, non-ATPase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311470	Psmd3	proteasome 26S subunit, non-ATPase 3	gene	DOID:1115	sarcoma		ISO	RGD:1322945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311470	Psmd3	proteasome 26S subunit, non-ATPase 3	gene	DOID:1324	lung cancer		ISO	RGD:1322945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311470	Psmd3	proteasome 26S subunit, non-ATPase 3	gene	DOID:1909	melanoma		ISO	RGD:1322945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311470	Psmd3	proteasome 26S subunit, non-ATPase 3	gene	DOID:3070	high grade glioma		ISO	RGD:1322945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311470	Psmd3	proteasome 26S subunit, non-ATPase 3	gene	DOID:3275	thymoma		ISO	RGD:1322945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311470	Psmd3	proteasome 26S subunit, non-ATPase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322945	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311470	Psmd3	proteasome 26S subunit, non-ATPase 3	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1322945	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1311470	Psmd3	proteasome 26S subunit, non-ATPase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311470	Psmd3	proteasome 26S subunit, non-ATPase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311470	Psmd3	proteasome 26S subunit, non-ATPase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311471	Prrx2	paired related homeobox 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311471	Prrx2	paired related homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311471	Prrx2	paired related homeobox 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1311472	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:0060340	ciliopathy		ISS	RGD:1322950	D	RGD:13592920	20220714	MouseDO			
1311472	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:0080072	intestinal pseudo-obstruction		ISS	RGD:1322950	D	RGD:13592920	20180518	MouseDO		OMIM:243180 | OMIM:601223	
1311472	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:0080600	COVID-19		ISO	RGD:1322949	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311472	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1322949	D	RGD:11554173	20190514	CTD		CTD Direct Evidence: marker/mechanism	
1311472	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1322949	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IgA nephropathy, susceptibility to, 3	PMID:25741868
1311472	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:2986	IgA glomerulonephritis	susceptibility	ISO	RGD:1322949	D	RGD:7240710	20190502	OMIM			
1311472	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:674	cleft palate		ISO	RGD:1322949	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17576140
1311472	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:850	lung disease		ISO	RGD:1322949	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24210189
1311472	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1322949	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15136453
1311472	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1322949	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17576140
1311472	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:9164	achalasia		ISS	RGD:1322950	D	RGD:13592920	20180518	MouseDO		OMIM:200400	
1311472	Spry2	sprouty RTK signaling antagonist 2	gene	DOID:9296	cleft lip		ISO	RGD:1322949	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17576140
1311474	Tmem120a	transmembrane protein 120A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311474	Tmem120a	transmembrane protein 120A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311474	Tmem120a	transmembrane protein 120A	gene	DOID:10534	stomach cancer		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311474	Tmem120a	transmembrane protein 120A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311474	Tmem120a	transmembrane protein 120A	gene	DOID:1324	lung cancer		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311474	Tmem120a	transmembrane protein 120A	gene	DOID:4362	cervical cancer		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311474	Tmem120a	transmembrane protein 120A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311474	Tmem120a	transmembrane protein 120A	gene	DOID:6039	uveal melanoma		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311474	Tmem120a	transmembrane protein 120A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311474	Tmem120a	transmembrane protein 120A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311474	Tmem120a	transmembrane protein 120A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311475	Ccdc88b	coiled-coil and HOOK domain protein 88B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311475	Ccdc88b	coiled-coil and HOOK domain protein 88B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311475	Ccdc88b	coiled-coil and HOOK domain protein 88B	gene	DOID:1024	leprosy		ISO	RGD:1603867	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25642632
1311475	Ccdc88b	coiled-coil and HOOK domain protein 88B	gene	DOID:1115	sarcoma		ISO	RGD:1603867	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311475	Ccdc88b	coiled-coil and HOOK domain protein 88B	gene	DOID:1324	lung cancer		ISO	RGD:1603867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311475	Ccdc88b	coiled-coil and HOOK domain protein 88B	gene	DOID:3275	thymoma		ISO	RGD:1603867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311475	Ccdc88b	coiled-coil and HOOK domain protein 88B	gene	DOID:4362	cervical cancer		ISO	RGD:1603867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311475	Ccdc88b	coiled-coil and HOOK domain protein 88B	gene	DOID:5041	esophageal cancer		ISO	RGD:1603867	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311475	Ccdc88b	coiled-coil and HOOK domain protein 88B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311475	Ccdc88b	coiled-coil and HOOK domain protein 88B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311475	Ccdc88b	coiled-coil and HOOK domain protein 88B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311475	Ccdc88b	coiled-coil and HOOK domain protein 88B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1311476	Vwa1	von Willebrand factor A domain containing 1	gene	DOID:0081426	autosomal recessive distal hereditary motor neuronopathy 7		ISO	RGD:1603968	D	RGD:7240710	20210414	OMIM			
1311476	Vwa1	von Willebrand factor A domain containing 1	gene	DOID:0081426	autosomal recessive distal hereditary motor neuronopathy 7		ISO	RGD:1603968	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 7 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 7 | ClinVar Annotator: match by term: Neuropathy, hereditary motor, with myopathic features | ClinVar Annotator: match by term: neuronopathy, distal hereditary motor, autosomal recessive 7	PMID:16407285|PMID:25741868|PMID:30768857|PMID:33015062|PMID:33459760|PMID:33559681|PMID:33693694|PMID:39502942
1311476	Vwa1	von Willebrand factor A domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
1311476	Vwa1	von Willebrand factor A domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311476	Vwa1	von Willebrand factor A domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1603968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311476	Vwa1	von Willebrand factor A domain containing 1	gene	DOID:440	neuromuscular disease		ISO	RGD:1603968	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
1311476	Vwa1	von Willebrand factor A domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311477	Sf3a1	splicing factor 3A subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311477	Sf3a1	splicing factor 3A subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311477	Sf3a1	splicing factor 3A subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1322957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311477	Sf3a1	splicing factor 3A subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322957	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311477	Sf3a1	splicing factor 3A subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311477	Sf3a1	splicing factor 3A subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311477	Sf3a1	splicing factor 3A subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311479	Pcgf3	polycomb group ring finger 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311479	Pcgf3	polycomb group ring finger 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311479	Pcgf3	polycomb group ring finger 3	gene	DOID:3275	thymoma		ISO	RGD:1344033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311479	Pcgf3	polycomb group ring finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311479	Pcgf3	polycomb group ring finger 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311481	Batf2	basic leucine zipper ATF-like transcription factor 2	gene	DOID:0080600	COVID-19		ISO	RGD:1602989	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311481	Batf2	basic leucine zipper ATF-like transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311481	Batf2	basic leucine zipper ATF-like transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1602989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311481	Batf2	basic leucine zipper ATF-like transcription factor 2	gene	DOID:1909	melanoma		ISO	RGD:1602989	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1311481	Batf2	basic leucine zipper ATF-like transcription factor 2	gene	DOID:2957	pulmonary tuberculosis	disease_progression	ISO	RGD:1602989	D	RGD:640476623|PMID:29764370	20260313	RGD			
1311481	Batf2	basic leucine zipper ATF-like transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:0060058	lymphoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:10907	microcephaly		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:10965	spastic diplegia		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:1115	sarcoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:1909	melanoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322966	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1322966	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311483	Kpna4	karyopherin subunit alpha 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:10534	stomach cancer		ISO	RGD:1345598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:1115	sarcoma		ISO	RGD:1345598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:1324	lung cancer		ISO	RGD:1345598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:1909	melanoma		ISO	RGD:1345598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1345598	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:4362	cervical cancer		ISO	RGD:1345598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1345598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311484	Fam234a	family with sequence similarity 234, member A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345598	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
1311485	Parvb	parvin, beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311485	Parvb	parvin, beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311485	Parvb	parvin, beta	gene	DOID:3275	thymoma		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311485	Parvb	parvin, beta	gene	DOID:4362	cervical cancer		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311485	Parvb	parvin, beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322969	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311485	Parvb	parvin, beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311485	Parvb	parvin, beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311485	Parvb	parvin, beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311485	Parvb	parvin, beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311485	Parvb	parvin, beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311487	Plekho1	pleckstrin homology domain containing O1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311487	Plekho1	pleckstrin homology domain containing O1	gene	DOID:1909	melanoma		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311487	Plekho1	pleckstrin homology domain containing O1	gene	DOID:3312	bipolar disorder		ISO	RGD:1606003	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
1311487	Plekho1	pleckstrin homology domain containing O1	gene	DOID:4362	cervical cancer		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311487	Plekho1	pleckstrin homology domain containing O1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311487	Plekho1	pleckstrin homology domain containing O1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311487	Plekho1	pleckstrin homology domain containing O1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311488	Slc25a15	solute carrier family 25 member 15	gene	DOID:0050720	ornithine translocase deficiency		ISO	RGD:1322973	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311488	Slc25a15	solute carrier family 25 member 15	gene	DOID:0050720	ornithine translocase deficiency		ISO	RGD:1322973	D	RGD:7240710	20130221	OMIM			
1311488	Slc25a15	solute carrier family 25 member 15	gene	DOID:0050720	ornithine translocase deficiency		ISO	RGD:1322973	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HHH SYNDROME | ClinVar Annotator: match by term: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME | ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | ClinVar Annotator: match by term: Ornithine translocase deficiency	PMID:10369256|PMID:10805333|PMID:11355015|PMID:11552031|PMID:11668643|PMID:12807890|PMID:14759633|PMID:16199547|PMID:16376511|PMID:16601889|PMID:16940241|PMID:17576681|PMID:17825324|PMID:18376250|PMID:18406340|PMID:18978333|PMID:19242930|PMID:19651321|PMID:22292090|PMID:22649802|PMID:23430880|PMID:24473688|PMID:24721342|PMID:25741868|PMID:25818551|PMID:25874378|PMID:26589310|PMID:28492532|PMID:29554876|PMID:30187369|PMID:30243302|PMID:31443672|PMID:31589614|PMID:32214227|PMID:32340404|PMID:33083013|PMID:34683364|PMID:36506307|PMID:39314408|PMID:39519275|PMID:40665309|PMID:41126296|PMID:9536098
1311488	Slc25a15	solute carrier family 25 member 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311488	Slc25a15	solute carrier family 25 member 15	gene	DOID:630	genetic disease		ISO	RGD:1322973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31589614
1311488	Slc25a15	solute carrier family 25 member 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311488	Slc25a15	solute carrier family 25 member 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311488	Slc25a15	solute carrier family 25 member 15	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1322973	D	RGD:1599239|PMID:10369256	20070122	RGD			
1311488	Slc25a15	solute carrier family 25 member 15	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1322973	D	RGD:1599240|PMID:10805333	20070122	RGD			
1311488	Slc25a15	solute carrier family 25 member 15	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:1322973	D	RGD:1599239|PMID:10369256	20070122	RGD			
1311488	Slc25a15	solute carrier family 25 member 15	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:1322973	D	RGD:1599240|PMID:10805333	20070122	RGD			
1311488	Slc25a15	solute carrier family 25 member 15	gene	DOID:9273	citrullinemia		ISO	RGD:1322973	D	RGD:1599239|PMID:10369256	20070122	RGD			
1311488	Slc25a15	solute carrier family 25 member 15	gene	DOID:9273	citrullinemia		ISO	RGD:1322973	D	RGD:1599240|PMID:10805333	20070122	RGD			
1311490	Tbc1d10c	TBC1 domain family, member 10C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606878	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311490	Tbc1d10c	TBC1 domain family, member 10C	gene	DOID:1115	sarcoma		ISO	RGD:1606878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311490	Tbc1d10c	TBC1 domain family, member 10C	gene	DOID:1909	melanoma		ISO	RGD:1606878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311490	Tbc1d10c	TBC1 domain family, member 10C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311490	Tbc1d10c	TBC1 domain family, member 10C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311490	Tbc1d10c	TBC1 domain family, member 10C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311490	Tbc1d10c	TBC1 domain family, member 10C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311491	Xpo6	exportin 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311491	Xpo6	exportin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311491	Xpo6	exportin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311491	Xpo6	exportin 6	gene	DOID:1115	sarcoma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311491	Xpo6	exportin 6	gene	DOID:1324	lung cancer		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311491	Xpo6	exportin 6	gene	DOID:1909	melanoma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311491	Xpo6	exportin 6	gene	DOID:303	substance-related disorder		ISO	RGD:1322976	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1311491	Xpo6	exportin 6	gene	DOID:3070	high grade glioma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311491	Xpo6	exportin 6	gene	DOID:3275	thymoma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311491	Xpo6	exportin 6	gene	DOID:4362	cervical cancer		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311491	Xpo6	exportin 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311491	Xpo6	exportin 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1322976	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311491	Xpo6	exportin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311491	Xpo6	exportin 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311491	Xpo6	exportin 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311491	Xpo6	exportin 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311491	Xpo6	exportin 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1322976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311492	Hinfp	histone H4 transcription factor	gene	DOID:10534	stomach cancer		ISO	RGD:1603667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311492	Hinfp	histone H4 transcription factor	gene	DOID:1324	lung cancer		ISO	RGD:1603667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311492	Hinfp	histone H4 transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311492	Hinfp	histone H4 transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311493	Atxn7l3	ataxin 7-like 3	gene	DOID:0070711	Harel-Tora neurodevelopmental syndrome		ISO	RGD:1342958	D	RGD:7240710	20260603	OMIM			
1311493	Atxn7l3	ataxin 7-like 3	gene	DOID:0070711	Harel-Tora neurodevelopmental syndrome		ISO	RGD:1342958	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HAREL-TORA NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Harel-Tora neurodevelopmental syndrome	PMID:25741868
1311493	Atxn7l3	ataxin 7-like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311493	Atxn7l3	ataxin 7-like 3	gene	DOID:3275	thymoma		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311493	Atxn7l3	ataxin 7-like 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311493	Atxn7l3	ataxin 7-like 3	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1342958	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1311493	Atxn7l3	ataxin 7-like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311493	Atxn7l3	ataxin 7-like 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311493	Atxn7l3	ataxin 7-like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311493	Atxn7l3	ataxin 7-like 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311493	Atxn7l3	ataxin 7-like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311495	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:0060058	lymphoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311495	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
1311495	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1322982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:37092538
1311495	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:1115	sarcoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311495	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:1324	lung cancer		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311495	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:1826	epilepsy		ISO	RGD:1322982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:37092538
1311495	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:1909	melanoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311495	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1322982	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1311495	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1322982	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311495	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311495	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311495	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:630	genetic disease		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311495	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CNOT9-associated neurodevelopmental disorder	PMID:25741868|PMID:37092538
1311495	Cnot9	CCR4-NOT transcription complex subunit 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:37092538
1311496	Spock1	sparc/osteonectin, cwcv and kazal like domains proteoglycan 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311496	Spock1	sparc/osteonectin, cwcv and kazal like domains proteoglycan 1	gene	DOID:10907	microcephaly		ISO	RGD:1322984	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311496	Spock1	sparc/osteonectin, cwcv and kazal like domains proteoglycan 1	gene	DOID:1115	sarcoma		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311496	Spock1	sparc/osteonectin, cwcv and kazal like domains proteoglycan 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311496	Spock1	sparc/osteonectin, cwcv and kazal like domains proteoglycan 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311496	Spock1	sparc/osteonectin, cwcv and kazal like domains proteoglycan 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311496	Spock1	sparc/osteonectin, cwcv and kazal like domains proteoglycan 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311496	Spock1	sparc/osteonectin, cwcv and kazal like domains proteoglycan 1	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1322984	D	RGD:153344549|PMID:30710422	20220824	RGD		human cells in mouse model	
1311496	Spock1	sparc/osteonectin, cwcv and kazal like domains proteoglycan 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1322984	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17929269
1311496	Spock1	sparc/osteonectin, cwcv and kazal like domains proteoglycan 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311496	Spock1	sparc/osteonectin, cwcv and kazal like domains proteoglycan 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311497	Stam2	signal transducing adaptor molecule 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311497	Stam2	signal transducing adaptor molecule 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311497	Stam2	signal transducing adaptor molecule 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311497	Stam2	signal transducing adaptor molecule 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322986	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311497	Stam2	signal transducing adaptor molecule 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311497	Stam2	signal transducing adaptor molecule 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311497	Stam2	signal transducing adaptor molecule 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311497	Stam2	signal transducing adaptor molecule 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311497	Stam2	signal transducing adaptor molecule 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311498	Slc25a17	solute carrier family 25 member 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311498	Slc25a17	solute carrier family 25 member 17	gene	DOID:1115	sarcoma		ISO	RGD:1322988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311498	Slc25a17	solute carrier family 25 member 17	gene	DOID:1324	lung cancer		ISO	RGD:1322988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311498	Slc25a17	solute carrier family 25 member 17	gene	DOID:3070	high grade glioma		ISO	RGD:1322988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311498	Slc25a17	solute carrier family 25 member 17	gene	DOID:4362	cervical cancer		ISO	RGD:1322988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311498	Slc25a17	solute carrier family 25 member 17	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311498	Slc25a17	solute carrier family 25 member 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1322988	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311498	Slc25a17	solute carrier family 25 member 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311499	Myadml2	myeloid-associated differentiation marker-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:2303467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311499	Myadml2	myeloid-associated differentiation marker-like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2303467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311500	Igsf8	immunoglobulin superfamily, member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311500	Igsf8	immunoglobulin superfamily, member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311500	Igsf8	immunoglobulin superfamily, member 8	gene	DOID:1115	sarcoma		ISO	RGD:1322991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311500	Igsf8	immunoglobulin superfamily, member 8	gene	DOID:1324	lung cancer		ISO	RGD:1322991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311500	Igsf8	immunoglobulin superfamily, member 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311500	Igsf8	immunoglobulin superfamily, member 8	gene	DOID:3275	thymoma		ISO	RGD:1322991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311500	Igsf8	immunoglobulin superfamily, member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311500	Igsf8	immunoglobulin superfamily, member 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311500	Igsf8	immunoglobulin superfamily, member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311500	Igsf8	immunoglobulin superfamily, member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311500	Igsf8	immunoglobulin superfamily, member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311501	Cacfd1	calcium channel flower domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311501	Cacfd1	calcium channel flower domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1322993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311501	Cacfd1	calcium channel flower domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1322993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311501	Cacfd1	calcium channel flower domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311501	Cacfd1	calcium channel flower domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311501	Cacfd1	calcium channel flower domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311502	Ston2	stonin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311502	Ston2	stonin 2	gene	DOID:1909	melanoma		ISO	RGD:1604566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311502	Ston2	stonin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311502	Ston2	stonin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311502	Ston2	stonin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311502	Ston2	stonin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:0112135	severe congenital neutropenia 8		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Shwachman-Diamond-like syndrome	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:1115	sarcoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:1909	melanoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1322997	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311504	Srpra	SRP receptor subunit alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311505	Fbxo38	F-box protein 38	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311505	Fbxo38	F-box protein 38	gene	DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2		ISO	RGD:1322999	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2	PMID:16199547|PMID:17576681|PMID:24207122|PMID:25741868|PMID:28166811|PMID:28492532|PMID:31420593|PMID:32579787|PMID:7723957|PMID:9536098
1311505	Fbxo38	F-box protein 38	gene	DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2		ISO	RGD:1322999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal Hereditary Motor Neuropathy, Type II | ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2	PMID:16199547|PMID:17576681|PMID:24207122|PMID:25741868|PMID:28106320|PMID:28492532|PMID:9536098
1311505	Fbxo38	F-box protein 38	gene	DOID:0111210	autosomal dominant distal hereditary motor neuronopathy 6		ISO	RGD:1322999	D	RGD:7240710	20140911	OMIM			
1311505	Fbxo38	F-box protein 38	gene	DOID:0111210	autosomal dominant distal hereditary motor neuronopathy 6		ISO	RGD:1322999	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Distal hereditary motor neuronopathy 2D | ClinVar Annotator: match by term: FBXO38-related condition | ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 6 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IID | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D	PMID:24207122|PMID:25741868|PMID:28492532
1311505	Fbxo38	F-box protein 38	gene	DOID:10534	stomach cancer		ISO	RGD:1322999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1311505	Fbxo38	F-box protein 38	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311505	Fbxo38	F-box protein 38	gene	DOID:1115	sarcoma		ISO	RGD:1322999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311505	Fbxo38	F-box protein 38	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1322999	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	PMID:28492532
1311505	Fbxo38	F-box protein 38	gene	DOID:1909	melanoma		ISO	RGD:1322999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311505	Fbxo38	F-box protein 38	gene	DOID:4362	cervical cancer		ISO	RGD:1322999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311505	Fbxo38	F-box protein 38	gene	DOID:5041	esophageal cancer		ISO	RGD:1322999	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1311505	Fbxo38	F-box protein 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311505	Fbxo38	F-box protein 38	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311505	Fbxo38	F-box protein 38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311505	Fbxo38	F-box protein 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311505	Fbxo38	F-box protein 38	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1311505	Fbxo38	F-box protein 38	gene	DOID:9256	colorectal cancer		ISO	RGD:1322999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311507	Gfod1	Gfo/Idh/MocA-like oxidoreductase domain containing 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1323002	D	RGD:11554173	20220308	CTD		CTD Direct Evidence: marker/mechanism	PMID:34961328
1311507	Gfod1	Gfo/Idh/MocA-like oxidoreductase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311507	Gfod1	Gfo/Idh/MocA-like oxidoreductase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311508	Osbpl9	oxysterol binding protein-like 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311508	Osbpl9	oxysterol binding protein-like 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311508	Osbpl9	oxysterol binding protein-like 9	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile epilepsy syndrome	PMID:25741868
1311508	Osbpl9	oxysterol binding protein-like 9	gene	DOID:10534	stomach cancer		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311508	Osbpl9	oxysterol binding protein-like 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311508	Osbpl9	oxysterol binding protein-like 9	gene	DOID:1324	lung cancer		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311508	Osbpl9	oxysterol binding protein-like 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311508	Osbpl9	oxysterol binding protein-like 9	gene	DOID:4362	cervical cancer		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311508	Osbpl9	oxysterol binding protein-like 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1323003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311508	Osbpl9	oxysterol binding protein-like 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311508	Osbpl9	oxysterol binding protein-like 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311508	Osbpl9	oxysterol binding protein-like 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311508	Osbpl9	oxysterol binding protein-like 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0050336	hypophosphatemia		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:1323005	D	RGD:155598682|PMID:22966016	20221019	RGD		mRNA:decreased expression:colorectum (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0060058	lymphoma	susceptibility	ISO	RGD:1622854	D	RGD:11567233|PMID:11238917	20161202	RGD			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0060240	UV-sensitive syndrome		ISO	RGD:1323005	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:26972010
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080199	colorectal carcinoma	treatment	ISO	RGD:1323005	D	RGD:155260341|PMID:28665687	20221004	RGD		human cell line in a mouse model	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080868	primary ovarian insufficiency 11		ISO	RGD:1323005	D	RGD:7240710	20260729	OMIM			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080868	primary ovarian insufficiency 11		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 11 | ClinVar Annotator: match by term: Premature ovarian failure 11	PMID:10447254|PMID:10767341|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26218421|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:30111349|PMID:32557569|PMID:38177409|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080908	Cockayne syndrome B		IMP		D	RGD:126925983|PMID:31644904	20210525	RGD			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080908	Cockayne syndrome B		ISO	RGD:1323005	D	RGD:7240710	20260729	OMIM			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080908	Cockayne syndrome B		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COCKAYNE SYNDROME B | ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B | ClinVar Annotator: match by term: Cockayne syndrome, type B	PMID:10196384|PMID:10767341|PMID:14639525|PMID:15486090|PMID:17576681|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20122405|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25251875|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31501894|PMID:32557569|PMID:38177409|PMID:9443879|PMID:9536098
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080911	cerebrooculofacioskeletal syndrome 1		ISO	RGD:1323005	D	RGD:10401092|PMID:20456449	20150925	RGD		DNA:point mutation: :c.3862C>T (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080911	cerebrooculofacioskeletal syndrome 1		ISO	RGD:1323005	D	RGD:10401101|PMID:10739753	20150925	RGD		DNA:nonsense mutation	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080911	cerebrooculofacioskeletal syndrome 1		ISO	RGD:1323005	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:10739753
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080911	cerebrooculofacioskeletal syndrome 1		ISO	RGD:1323005	D	RGD:7240710	20260729	OMIM			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080911	cerebrooculofacioskeletal syndrome 1		ISO	RGD:1323005	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1	PMID:10447254|PMID:10767341|PMID:11809892|PMID:1339317|PMID:14639525|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23422418|PMID:24033266|PMID:25136123|PMID:25326635|PMID:25356239|PMID:25463447|PMID:25741868|PMID:25820262|PMID:26620705|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:30111349|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:32868804|PMID:33904453|PMID:34005834|PMID:34853308|PMID:35066699|PMID:36099812|PMID:36344539|PMID:38177409|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1323005	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18628313
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0110028	age related macular degeneration 5		ISO	RGD:1323005	D	RGD:7240710	20260729	OMIM			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0110028	age related macular degeneration 5		ISO	RGD:1323005	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 5	PMID:10447254|PMID:10767341|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23422418|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:30111349|PMID:32557569|PMID:36099812|PMID:38177409|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0112158	De Sanctis-Cacchione syndrome		ISO	RGD:1323005	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10767341
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0112158	De Sanctis-Cacchione syndrome		ISO	RGD:1323005	D	RGD:7240710	20260729	OMIM			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:0112158	De Sanctis-Cacchione syndrome		ISO	RGD:1323005	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME	PMID:10447254|PMID:10767341|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23422418|PMID:25136123|PMID:25326635|PMID:25356239|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:30111349|PMID:32557569|PMID:38177409|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1622854	D	RGD:11567237|PMID:25762674	20161202	RGD			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1323005	D	RGD:155260339|PMID:27340861	20221003	RGD		DNA:SNP:enhancer: (rs1917799) (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1323005	D	RGD:155260342|PMID:30417012	20221004	RGD		mRNA:increased expression:stomach (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10579	leukodystrophy		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:18628313|PMID:25741868|PMID:28440418|PMID:28492532|PMID:29572252
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1059	intellectual disability		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10609	rickets		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rickets	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10629	microphthalmia		ISO	RGD:1323005	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10739753
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:10907	microcephaly		ISO	RGD:1323005	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10739753|PMID:18628313
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:11199	hypoparathyroidism		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1283	enterocele		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:10767341|PMID:18414213|PMID:18628313|PMID:19894250|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25741868|PMID:25820262|PMID:28492532|PMID:29572252|PMID:30111349|PMID:38177409|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer		ISO	RGD:1323005	D	RGD:7240710	20260729	OMIM			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer		ISO	RGD:1323005	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:10767341|PMID:16754848|PMID:17854076|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:38177409|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer		ISO	RGD:1323005	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:10196384|PMID:10447254|PMID:10767341|PMID:11809892|PMID:1339317|PMID:14639525|PMID:16199547|PMID:16754848|PMID:17854076|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:24033266|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:34052969|PMID:38177409|PMID:887325|PMID:9150142|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:10447254|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:32557569|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:10447254|PMID:10767341|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:30111349|PMID:32557569|PMID:38177409|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1323005	D	RGD:11567235|PMID:17855454	20161202	RGD		DNA:SNPs: :p.G399D, p.Q1413R (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer	no_association	ISO	RGD:1323005	D	RGD:11567231|PMID:18789574	20161202	RGD		DNA:SNPs: :multiple	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1323005	D	RGD:11561791|PMID:17854076	20161202	RGD		DNA:point mutation:promoter::c.-6530C>G (rs3793784) (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1323005	D	RGD:155260338|PMID:10910954	20221003	RGD		mRNA:decreased expression:lung (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:13580	cholestasis		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:18628313|PMID:28492532|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:14184	polyneuropathy due to drug	treatment	ISO	RGD:1323005	D	RGD:155260345|PMID:35135151	20221004	RGD		associated with colorectal cancer;DNA:missense mutations:CDS:p.D425A, p.G446D, p.S797C (rs4253046, rs4253047, rs146043988) (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:14261	fragile X syndrome		ISO	RGD:1622854	D	RGD:10401097|PMID:24352881	20150925	RGD			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:18628313|PMID:19894250|PMID:25741868|PMID:28492532|PMID:29572252
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1749	squamous cell carcinoma	severity	ISO	RGD:1622854	D	RGD:10401099|PMID:9150142	20150925	RGD		associated with Cockayne Syndrome	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:1826	epilepsy		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:10401104|PMID:10437118	20150925	RGD		mRNA, protein:increased expression:cerebral cortex	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:2394	ovarian cancer		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:2596	larynx cancer	susceptibility	ISO	RGD:1323005	D	RGD:155260337|PMID:19444904	20221003	RGD		DNA:missense mutation:CDS:p.R1230P (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1323005	D	RGD:10401095|PMID:18446857	20150925	RGD		DNA:insertion: :c.1034_1035insT (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1323005	D	RGD:10401100|PMID:23599700	20150925	RGD		DNA:splice-site mutation, deletion:exon, intron:c.1293_1320del, c.2709 + 1G>T (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1323005	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:9443879|PMID:10739753|PMID:10767341|PMID:22466610|PMID:22466612|PMID:25440059|PMID:26972010
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1323005	D	RGD:11567232|PMID:25463447	20161202	RGD		DNA:missense mutations:exon:p.D532G (c.1595A>G), p.L536W (c.1607T>G) (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cockayne syndrome	PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25356239|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:2962	Cockayne syndrome		ISS	RGD:1622854	D	RGD:13592920	20230718	MouseDO			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:3275	thymoma		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:3355	fibrosarcoma	susceptibility	ISO	RGD:1622854	D	RGD:11567233|PMID:11238917	20161202	RGD			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:3525	middle cerebral artery infarction		IEP		D	RGD:10401103|PMID:9974119	20150925	RGD			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:3905	lung carcinoma		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung carcinoma	PMID:18414213|PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323005	D	RGD:155260344|PMID:31615563	20221004	RGD		mRNA, protein:increased expression:lung (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1323005	D	RGD:153323316|PMID:28924235	20221004	RGD		DNA:SNP:intron: (rs4253002) (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1323005	D	RGD:155260344|PMID:31615563	20221004	RGD		mRNA, protein:increased expression:lung (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:4362	cervical cancer		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:4448	macular degeneration		ISO	RGD:1323005	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16754848
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:4448	macular degeneration	onset	ISO	RGD:1323005	D	RGD:10401096|PMID:21072178	20150925	RGD			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:19894250|PMID:25741868|PMID:28492532|PMID:29572252
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1323005	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:630	genetic disease		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25356239|PMID:25741868|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:36099812|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:7400	Nijmegen breakage syndrome		ISO	RGD:1323005	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies	PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25677497|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:784	chronic kidney disease		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:83	cataract		ISO	RGD:1323005	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18628313
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:83	cataract		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:18628313|PMID:28492532|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9000343	Vision Disorders		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:19894250
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1323005	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Corpus callosum agenesis	PMID:18414213|PMID:26076356|PMID:26197979
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:18628313|PMID:25356239|PMID:25741868|PMID:28492532|PMID:29572252
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9002644	Premature Aging		ISO	RGD:1323005	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25440059
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9004486	Drug-induced Neutropenia	treatment	ISO	RGD:1323005	D	RGD:153323316|PMID:28924235	20221004	RGD		associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323005	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25440059
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9004866	Ataxia		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:18628313|PMID:25741868|PMID:28440418|PMID:28492532|PMID:29572252
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1323005	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17854076
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9005172	Lung Neoplasms	susceptibility	ISO	RGD:1323005	D	RGD:11567231|PMID:18789574	20161202	RGD		DNA:SNPs: :rs3793784, rs12571445 (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:10767341|PMID:18414213|PMID:18628313|PMID:19894250|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25741868|PMID:25820262|PMID:28492532|PMID:29572252|PMID:30111349|PMID:38177409|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9005616	Micrognathism		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:18628313|PMID:25356239|PMID:25741868|PMID:28492532|PMID:29572252
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9006065	Arthralgia		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9006257	Growth Disorders		ISO	RGD:1323005	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18628313
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9006274	UV-Sensitive Syndrome 1		ISO	RGD:1323005	D	RGD:7240710	20260729	OMIM			
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9006274	UV-Sensitive Syndrome 1		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1 | ClinVar Annotator: match by term: UV-sensitive syndrome 1	PMID:10447254|PMID:10767341|PMID:14639525|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:30111349|PMID:32557569|PMID:38177409|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9006743	Spasm		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature	PMID:10767341|PMID:18414213|PMID:18628313|PMID:19894250|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25356239|PMID:25741868|PMID:25820262|PMID:28440418|PMID:28492532|PMID:29572252|PMID:30111349|PMID:38177409|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10767341|PMID:18414213|PMID:18628313|PMID:19894250|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25741868|PMID:25820262|PMID:28492532|PMID:29572252|PMID:30111349|PMID:38177409|PMID:9443879
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9008514	Psychomotor Disorders		ISO	RGD:1323005	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18628313
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1323005	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18628313
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323005	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1323005	D	RGD:155260343|PMID:16951227	20221004	RGD		mRNA:increased expression:colorectum (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1323005	D	RGD:155260348|PMID:29151331	20221004	RGD		DNA:SNP:exon: (rs2228526) (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1323005	D	RGD:155260340|PMID:17119055	20221003	RGD		DNA:missense mutation:CDS:p.R1213G (human)	
1311509	Ercc6	ERCC excision repair 6, chromatin remodeling factor	gene	DOID:9993	hypoglycemia		ISO	RGD:1323005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:28492532
1311511	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311511	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311511	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:0081454	Dent disease 2		ISO	RGD:1342739	D	RGD:8554872	20200519	ClinVar		ClinVar Annotator: match by term: Dent disease type 2	PMID:28018608
1311511	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:10534	stomach cancer		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311511	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:1115	sarcoma		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311511	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:1324	lung cancer		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311511	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:1909	melanoma		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311511	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:4362	cervical cancer		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311511	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:5041	esophageal cancer		ISO	RGD:1342739	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311511	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311511	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311511	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311511	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311511	Inpp5b	inositol polyphosphate-5-phosphatase B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1323009	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27768893
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:1612	breast cancer	severity	ISO	RGD:1323009	D	RGD:9586031|PMID:22199269	20140925	RGD		mRNA:increased expression:breast (human)	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:4362	cervical cancer		ISO	RGD:1323009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323009	D	RGD:9586034|PMID:23394073	20140925	RGD		mRNA, protein:decreased expression:kidney (human)	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1323009	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:6000	congestive heart failure		ISO	RGD:1323009	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27768893
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1323009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:630	genetic disease		ISO	RGD:1323009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:33057194
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:9000897	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME		ISO	RGD:1323009	D	RGD:7240710	20201216	OMIM			
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:9000897	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME		ISO	RGD:1323009	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: KAT8-related disorder | ClinVar Annotator: match by term: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME | ClinVar Annotator: match by term: Li-Ghorbani-Weisz-Hubshman syndrome	PMID:25741868|PMID:31794431
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1323010	D	RGD:9586036|PMID:24802406	20140925	RGD		mRNA, protein:decreased expression:heart (mouse)	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1323009	D	RGD:9586036|PMID:24802406	20140925	RGD		human gene in a mouse model	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:9004866	Ataxia		ISO	RGD:1323009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ataxia	PMID:25741868
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311512	Kat8	lysine acetyltransferase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311513	Cd226	CD226 molecule	gene	DOID:1324	lung cancer		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311513	Cd226	CD226 molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311513	Cd226	CD226 molecule	gene	DOID:289	endometriosis		ISO	RGD:1323011	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1311513	Cd226	CD226 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311513	Cd226	CD226 molecule	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323011	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311513	Cd226	CD226 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311513	Cd226	CD226 molecule	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1323011	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1311513	Cd226	CD226 molecule	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1323011	D	RGD:9068941	20201118	RGD			PMID:21695691|REF_RGD_ID:40818295
1311513	Cd226	CD226 molecule	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1323011	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16015041
1311513	Cd226	CD226 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311513	Cd226	CD226 molecule	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323011	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26808113
1311513	Cd226	CD226 molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311514	Trim14	tripartite motif-containing 14	gene	DOID:10534	stomach cancer		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311514	Trim14	tripartite motif-containing 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311514	Trim14	tripartite motif-containing 14	gene	DOID:1909	melanoma		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311514	Trim14	tripartite motif-containing 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1323013	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311514	Trim14	tripartite motif-containing 14	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311514	Trim14	tripartite motif-containing 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311514	Trim14	tripartite motif-containing 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311514	Trim14	tripartite motif-containing 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311515	Paqr9	progestin and adipoQ receptor family member 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323015	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311516	Mrps10	mitochondrial ribosomal protein S10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311516	Mrps10	mitochondrial ribosomal protein S10	gene	DOID:10534	stomach cancer		ISO	RGD:1323017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311516	Mrps10	mitochondrial ribosomal protein S10	gene	DOID:5041	esophageal cancer		ISO	RGD:1323017	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311516	Mrps10	mitochondrial ribosomal protein S10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311516	Mrps10	mitochondrial ribosomal protein S10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311516	Mrps10	mitochondrial ribosomal protein S10	gene	DOID:905	Zellweger syndrome		ISO	RGD:1323017	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Zellweger Spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
1311516	Mrps10	mitochondrial ribosomal protein S10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311517	C5h1orf159	similar to human chromosome 1 open reading frame 159	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311517	C5h1orf159	similar to human chromosome 1 open reading frame 159	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311517	C5h1orf159	similar to human chromosome 1 open reading frame 159	gene	DOID:10534	stomach cancer		ISO	RGD:1606269	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311517	C5h1orf159	similar to human chromosome 1 open reading frame 159	gene	DOID:1115	sarcoma		ISO	RGD:1606269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311517	C5h1orf159	similar to human chromosome 1 open reading frame 159	gene	DOID:1909	melanoma		ISO	RGD:1606269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311517	C5h1orf159	similar to human chromosome 1 open reading frame 159	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311517	C5h1orf159	similar to human chromosome 1 open reading frame 159	gene	DOID:4362	cervical cancer		ISO	RGD:1606269	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311517	C5h1orf159	similar to human chromosome 1 open reading frame 159	gene	DOID:5041	esophageal cancer		ISO	RGD:1606269	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311517	C5h1orf159	similar to human chromosome 1 open reading frame 159	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311517	C5h1orf159	similar to human chromosome 1 open reading frame 159	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311517	C5h1orf159	similar to human chromosome 1 open reading frame 159	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311517	C5h1orf159	similar to human chromosome 1 open reading frame 159	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311517	C5h1orf159	similar to human chromosome 1 open reading frame 159	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311517	C5h1orf159	similar to human chromosome 1 open reading frame 159	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0060058	lymphoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0060237	Warburg micro syndrome		ISO	RGD:1604372	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0110717	Warburg micro syndrome 2		ISO	RGD:1604372	D	RGD:7240710	20140903	OMIM			
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0110717	Warburg micro syndrome 2		ISO	RGD:1604372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: WARBURG MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2	PMID:16199547|PMID:20967465|PMID:23420520|PMID:24033266|PMID:25533962|PMID:25741868|PMID:28492532|PMID:32870266
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0111586	Martsolf syndrome 1		ISO	RGD:1604372	D	RGD:7240710	20130731	OMIM			
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0111586	Martsolf syndrome 1		ISO	RGD:1604372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MARTSOLF SYNDROME 1 | ClinVar Annotator: match by term: Martsolf syndrome 1	PMID:23420520|PMID:24891604|PMID:25741868|PMID:28492532
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:10629	microphthalmia		ISO	RGD:1604372	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:10907	microcephaly		ISO	RGD:1604372	D	RGD:8554872	20250114	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:13938	amenorrhea		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:28492532|PMID:32870266
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604372	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:674	cleft palate		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9006949	Martsolf Syndrome		ISO	RGD:1604372	D	RGD:11554173	20230221	CTD		CTD Direct Evidence: marker/mechanism	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9006949	Martsolf Syndrome		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract mental retardation hypogonadism | ClinVar Annotator: match by term: Martsolf syndrome	PMID:16199547|PMID:17576681|PMID:23420520|PMID:24033266|PMID:25533962|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29419336|PMID:32870266|PMID:9536098
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9008498	Tracheoesophageal Fistula		ISO	RGD:1604372	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tracheoesophageal Fistula	PMID:32641753
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9008539	Perinatal Death		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal death	PMID:25741868
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9008811	Tachypnea		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1311518	Rab3gap2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9296	cleft lip		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868
1311519	Cfap61	cilia and flagella associated protein 61	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311519	Cfap61	cilia and flagella associated protein 61	gene	DOID:0070311	oligoasthenoteratozoospermia		ISS	RGD:1618265	D	RGD:13592920	20230413	MouseDO			
1311519	Cfap61	cilia and flagella associated protein 61	gene	DOID:0070583	spermatogenic failure 84		ISO	RGD:1323021	D	RGD:7240710	20230607	OMIM			
1311519	Cfap61	cilia and flagella associated protein 61	gene	DOID:0070583	spermatogenic failure 84		ISO	RGD:1323021	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 84 | ClinVar Annotator: match by term: Spermatogenic failure 84	PMID:25741868|PMID:35387802
1311519	Cfap61	cilia and flagella associated protein 61	gene	DOID:1324	lung cancer		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311519	Cfap61	cilia and flagella associated protein 61	gene	DOID:1909	melanoma		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311519	Cfap61	cilia and flagella associated protein 61	gene	DOID:4362	cervical cancer		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311519	Cfap61	cilia and flagella associated protein 61	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311519	Cfap61	cilia and flagella associated protein 61	gene	DOID:5041	esophageal cancer		ISO	RGD:1323021	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311519	Cfap61	cilia and flagella associated protein 61	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311519	Cfap61	cilia and flagella associated protein 61	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311519	Cfap61	cilia and flagella associated protein 61	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1323021	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Situs inversus	PMID:25741868
1311519	Cfap61	cilia and flagella associated protein 61	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311520	Cep85	centrosomal protein 85	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311520	Cep85	centrosomal protein 85	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311520	Cep85	centrosomal protein 85	gene	DOID:10534	stomach cancer		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311520	Cep85	centrosomal protein 85	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311520	Cep85	centrosomal protein 85	gene	DOID:1115	sarcoma		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311520	Cep85	centrosomal protein 85	gene	DOID:1324	lung cancer		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311520	Cep85	centrosomal protein 85	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311520	Cep85	centrosomal protein 85	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311520	Cep85	centrosomal protein 85	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:1324	lung cancer		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:1909	melanoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:3669	intermittent claudication	treatment	IMP		D	RGD:10395378|PMID:21771896	20160129	RGD			
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1323023	D	RGD:11554173	20220322	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:9000998	Brain Injuries	treatment	IMP		D	RGD:10395371|PMID:22960363	20160129	RGD			
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1323023	D	RGD:11554173	20220322	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311521	Eif3e	eukaryotic translation initiation factor 3 subunit E	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311522	Xpo5	exportin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311522	Xpo5	exportin 5	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1323025	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26878725
1311522	Xpo5	exportin 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311522	Xpo5	exportin 5	gene	DOID:12858	Huntington's disease		ISO	RGD:1323026	D	RGD:11041745|PMID:21035445	20160328	RGD		mRNA:increased expression:striatum (mouse)	
1311522	Xpo5	exportin 5	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1323025	D	RGD:11041726|PMID:21552306	20160328	RGD		DNA:missense mutations:cds:p.S241N, p.M1115T (rs34324334, rs11544382) (human)	
1311522	Xpo5	exportin 5	gene	DOID:1793	pancreatic cancer		ISO	RGD:1323026	D	RGD:11041739|PMID:26516699	20160328	RGD		mRNA:decreased expression:pancreas (mouse)	
1311522	Xpo5	exportin 5	gene	DOID:1909	melanoma		ISO	RGD:1323025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311522	Xpo5	exportin 5	gene	DOID:2154	nephroblastoma		ISO	RGD:1323025	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
1311522	Xpo5	exportin 5	gene	DOID:2671	transitional cell carcinoma	severity	ISO	RGD:1323025	D	RGD:11041723|PMID:22766726	20160328	RGD		mRNA:increased expression:urothelium (human)	
1311522	Xpo5	exportin 5	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1323025	D	RGD:11041736|PMID:21799879	20160328	RGD		DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human)	
1311522	Xpo5	exportin 5	gene	DOID:4362	cervical cancer		ISO	RGD:1323025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311522	Xpo5	exportin 5	gene	DOID:5409	lung small cell carcinoma	severity	ISO	RGD:1323025	D	RGD:11041738|PMID:24648983	20160328	RGD		DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human)	
1311522	Xpo5	exportin 5	gene	DOID:5426	primary ovarian insufficiency	susceptibility	ISO	RGD:1323025	D	RGD:11041728|PMID:23549446	20160328	RGD		DNA:snps, haplotype:exon, 3' utr:c.3303C>T, c.*659A>C (rs2257082, rs11077) (human)	
1311522	Xpo5	exportin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311522	Xpo5	exportin 5	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1323025	D	RGD:11041737|PMID:24676133	20160328	RGD		DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human)	
1311522	Xpo5	exportin 5	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1323025	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25701956
1311522	Xpo5	exportin 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311522	Xpo5	exportin 5	gene	DOID:9008914	Lead Poisoning		ISO	RGD:1323025	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:28042866
1311522	Xpo5	exportin 5	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1323025	D	RGD:11041733|PMID:26147304	20160328	RGD		DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human)	
1311522	Xpo5	exportin 5	gene	DOID:9538	multiple myeloma	severity	ISO	RGD:1323025	D	RGD:11041735|PMID:22539802	20160328	RGD		DNA:snp:3' utr:c.*659A>C (rs11077) (human)	
1311523	Galnt9	polypeptide N-acetylgalactosaminyltransferase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311523	Galnt9	polypeptide N-acetylgalactosaminyltransferase 9	gene	DOID:3275	thymoma		ISO	RGD:69656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311523	Galnt9	polypeptide N-acetylgalactosaminyltransferase 9	gene	DOID:4362	cervical cancer		ISO	RGD:69656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311523	Galnt9	polypeptide N-acetylgalactosaminyltransferase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311523	Galnt9	polypeptide N-acetylgalactosaminyltransferase 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:69656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311523	Galnt9	polypeptide N-acetylgalactosaminyltransferase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311525	Nup93	nucleoporin 93	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311525	Nup93	nucleoporin 93	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1323029	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26878725
1311525	Nup93	nucleoporin 93	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1323029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome	
1311525	Nup93	nucleoporin 93	gene	DOID:0080387	nephrotic syndrome type 12		ISO	RGD:1323029	D	RGD:7240710	20190315	OMIM			
1311525	Nup93	nucleoporin 93	gene	DOID:0080387	nephrotic syndrome type 12		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 12 | ClinVar Annotator: match by term: NUP93-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 12	PMID:25741868|PMID:26878725|PMID:28492532|PMID:29127259|PMID:35026467|PMID:37762751
1311525	Nup93	nucleoporin 93	gene	DOID:10534	stomach cancer		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26878725|PMID:28492532|PMID:35026467|PMID:37762751
1311525	Nup93	nucleoporin 93	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311525	Nup93	nucleoporin 93	gene	DOID:1115	sarcoma		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26878725|PMID:28492532|PMID:35026467|PMID:37762751
1311525	Nup93	nucleoporin 93	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:26878725|PMID:28492532|PMID:30655312|PMID:31315584|PMID:35026467|PMID:37762751
1311525	Nup93	nucleoporin 93	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1323029	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:32581362
1311525	Nup93	nucleoporin 93	gene	DOID:1324	lung cancer		ISO	RGD:1323029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311525	Nup93	nucleoporin 93	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311525	Nup93	nucleoporin 93	gene	DOID:3275	thymoma		ISO	RGD:1323029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311525	Nup93	nucleoporin 93	gene	DOID:4362	cervical cancer		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26878725|PMID:28492532|PMID:35026467|PMID:37762751
1311525	Nup93	nucleoporin 93	gene	DOID:5041	esophageal cancer		ISO	RGD:1323029	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311525	Nup93	nucleoporin 93	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26878725|PMID:28492532|PMID:35026467|PMID:37762751
1311525	Nup93	nucleoporin 93	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26878725|PMID:28492532|PMID:35026467|PMID:37762751
1311525	Nup93	nucleoporin 93	gene	DOID:630	genetic disease		ISO	RGD:1323029	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311525	Nup93	nucleoporin 93	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311525	Nup93	nucleoporin 93	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26878725|PMID:28492532|PMID:35026467|PMID:37762751
1311526	Mettl13	methyltransferase 13, eEF1A N-terminus and K55	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311526	Mettl13	methyltransferase 13, eEF1A N-terminus and K55	gene	DOID:10534	stomach cancer		ISO	RGD:1604624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311526	Mettl13	methyltransferase 13, eEF1A N-terminus and K55	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311526	Mettl13	methyltransferase 13, eEF1A N-terminus and K55	gene	DOID:1115	sarcoma		ISO	RGD:1604624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311526	Mettl13	methyltransferase 13, eEF1A N-terminus and K55	gene	DOID:1909	melanoma		ISO	RGD:1604624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311526	Mettl13	methyltransferase 13, eEF1A N-terminus and K55	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311526	Mettl13	methyltransferase 13, eEF1A N-terminus and K55	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311526	Mettl13	methyltransferase 13, eEF1A N-terminus and K55	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311526	Mettl13	methyltransferase 13, eEF1A N-terminus and K55	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311526	Mettl13	methyltransferase 13, eEF1A N-terminus and K55	gene	DOID:9003159	Nonsyndromic Deafness, Modifier 1		ISO	RGD:1604624	D	RGD:7240710	20190315	OMIM			
1311526	Mettl13	methyltransferase 13, eEF1A N-terminus and K55	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311526	Mettl13	methyltransferase 13, eEF1A N-terminus and K55	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604624	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311527	Mars2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050942	spastic ataxia 3		ISO	RGD:1349073	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311527	Mars2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050942	spastic ataxia 3		ISO	RGD:1349073	D	RGD:7240710	20151216	OMIM			
1311527	Mars2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050942	spastic ataxia 3		ISO	RGD:1349073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia, spastic, 3, autosomal recessive | ClinVar Annotator: match by term: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic ataxia 3	PMID:25741868|PMID:28492532
1311527	Mars2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111468	combined oxidative phosphorylation deficiency 25		ISO	RGD:1349073	D	RGD:7240710	20170301	OMIM			
1311527	Mars2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111468	combined oxidative phosphorylation deficiency 25		ISO	RGD:1349073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 | ClinVar Annotator: match by term: MARS2-related condition	PMID:25741868|PMID:28492532
1311527	Mars2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1311528	Slc36a4	solute carrier family 36 member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311528	Slc36a4	solute carrier family 36 member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311528	Slc36a4	solute carrier family 36 member 4	gene	DOID:1115	sarcoma		ISO	RGD:1323033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311528	Slc36a4	solute carrier family 36 member 4	gene	DOID:1324	lung cancer		ISO	RGD:1323033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311528	Slc36a4	solute carrier family 36 member 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311528	Slc36a4	solute carrier family 36 member 4	gene	DOID:3275	thymoma		ISO	RGD:1323033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311528	Slc36a4	solute carrier family 36 member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1323033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311528	Slc36a4	solute carrier family 36 member 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311528	Slc36a4	solute carrier family 36 member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311528	Slc36a4	solute carrier family 36 member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311528	Slc36a4	solute carrier family 36 member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311529	Tox3	TOX high mobility group box family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311529	Tox3	TOX high mobility group box family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311529	Tox3	TOX high mobility group box family member 3	gene	DOID:9000357	Male Breast Neoplasms		ISO	RGD:1323035	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23001122
1311529	Tox3	TOX high mobility group box family member 3	gene	DOID:9003854	Cleft Lip with or without Cleft Palate, Nonsyndromic, 7		ISO	RGD:1323035	D	RGD:617154584|PMID:30924295	20250708	RGD		DNA:CNV:Chr.16:52503999, 16q12.1, Hs03924205_cn	
1311529	Tox3	TOX high mobility group box family member 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1323035	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1311529	Tox3	TOX high mobility group box family member 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323035	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17529967
1311529	Tox3	TOX high mobility group box family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311530	Tmem108	transmembrane protein 108	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311530	Tmem108	transmembrane protein 108	gene	DOID:1909	melanoma		ISO	RGD:1604309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311530	Tmem108	transmembrane protein 108	gene	DOID:3070	high grade glioma		ISO	RGD:1604309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311530	Tmem108	transmembrane protein 108	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:10534	stomach cancer		ISO	RGD:1601972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:1115	sarcoma		ISO	RGD:1601972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:1324	lung cancer		ISO	RGD:1601972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:3275	thymoma		ISO	RGD:1601972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:4362	cervical cancer		ISO	RGD:1601972	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:6039	uveal melanoma		ISO	RGD:1601972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311532	Tmem106c	transmembrane protein 106C	gene	DOID:9256	colorectal cancer		ISO	RGD:1601972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311534	Oxnad1	oxidoreductase NAD-binding domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311534	Oxnad1	oxidoreductase NAD-binding domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311534	Oxnad1	oxidoreductase NAD-binding domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311534	Oxnad1	oxidoreductase NAD-binding domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311534	Oxnad1	oxidoreductase NAD-binding domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311534	Oxnad1	oxidoreductase NAD-binding domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311534	Oxnad1	oxidoreductase NAD-binding domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:0051083	developmental and epileptic encephalopathy 111		ISO	RGD:1323042	D	RGD:7240710	20230927	OMIM			
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:0051083	developmental and epileptic encephalopathy 111		ISO	RGD:1323042	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEPDC5-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 111	PMID:16199547|PMID:17576681|PMID:23542697|PMID:23542701|PMID:24283814|PMID:25741868|PMID:26467025|PMID:26505888|PMID:26704558|PMID:27066554|PMID:27208208|PMID:28492532|PMID:28717674|PMID:29057844|PMID:29356177|PMID:29358611|PMID:30093711|PMID:31139143|PMID:31594065|PMID:31639411|PMID:34953286|PMID:36067010|PMID:36864519|PMID:39434542|PMID:9536098
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:0060249	scoliosis		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:1323042	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Familial sleep-related hypermotor epilepsy	PMID:24283814|PMID:25366275|PMID:25741868|PMID:28492532|PMID:28549235|PMID:28717674|PMID:31639411
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:0070309	absence epilepsy		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:0081420	familial focal epilepsy with variable foci		ISO	RGD:1323042	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial focal epilepsy with variable foci	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23542697|PMID:23542701|PMID:23609619|PMID:23869883|PMID:24283814|PMID:24585383|PMID:24591017|PMID:24814846|PMID:25366275|PMID:25599672|PMID:25623524|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25954003|PMID:25989649|PMID:26467025|PMID:26505888|PMID:26704558|PMID:27066554|PMID:27173016|PMID:27208208|PMID:27618451|PMID:28170089|PMID:28490743|PMID:28492532|PMID:28549235|PMID:28717674|PMID:29180823|PMID:29358611|PMID:29761115|PMID:30093711|PMID:30166713|PMID:30427063|PMID:30525188|PMID:30767899|PMID:30868116|PMID:31377847|PMID:31440721|PMID:31639411|PMID:31875159|PMID:31957018|PMID:32086284|PMID:32848577|PMID:33057194|PMID:33461085|PMID:34239491|PMID:34489640|PMID:34587683|PMID:34953286|PMID:35571021|PMID:36067010|PMID:36864519|PMID:37006128|PMID:37422919|PMID:37595579|PMID:38752894|PMID:39434542|PMID:9536098
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:0081421	familial focal epilepsy with variable foci 1		ISO	RGD:1323042	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23542697|PMID:23542701
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:0081421	familial focal epilepsy with variable foci 1		ISO	RGD:1323042	D	RGD:7240710	20130731	OMIM			
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:0081421	familial focal epilepsy with variable foci 1		ISO	RGD:1323042	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEPDC5-Related Disorder | ClinVar Annotator: match by term: DEPDC5-related disorder | ClinVar Annotator: match by term: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 | ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 | ClinVar Annotator: match by term: epilepsy, familial focal, with variable foci 1	PMID:16199547|PMID:17576681|PMID:23542697|PMID:23542701|PMID:23609619|PMID:23869883|PMID:24283814|PMID:24585383|PMID:24591017|PMID:24814846|PMID:25366275|PMID:25599672|PMID:25623524|PMID:25741868|PMID:25741869|PMID:26216793|PMID:26467025|PMID:26505888|PMID:26704558|PMID:27066544|PMID:27066554|PMID:27066565|PMID:27159400|PMID:27208208|PMID:28166811|PMID:28199897|PMID:28492532|PMID:28549235|PMID:28677221|PMID:28717674|PMID:29180823|PMID:29358611|PMID:29761115|PMID:30093711|PMID:30525188|PMID:30767899|PMID:31440721|PMID:31639411|PMID:31875159|PMID:32086284|PMID:32848577|PMID:34489640|PMID:34953286|PMID:36864519|PMID:37595579|PMID:38752894|PMID:39434542|PMID:9536098
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:25741868
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:0111593	distal arthrogryposis type 10		ISO	RGD:1323042	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Plantar flexion contracture	PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532|PMID:30093711|PMID:34953286|PMID:36864519|PMID:39434542
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Borderline intellectual disability | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:1115	sarcoma		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:27066554|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:1148	polydactyly		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:30093711
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:11832	visual epilepsy		ISO	RGD:1323042	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28166811|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611|PMID:30093711
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:11832	visual epilepsy		ISO	RGD:1323042	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: autistic behavior	PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:1324	lung cancer		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:13620	patent foramen ovale		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868|PMID:30093711
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868|PMID:30093711
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:14264	benign neonatal seizures		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:25741868|PMID:30093711
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:1826	epilepsy		ISO	RGD:1323042	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder	PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:1826	epilepsy		ISO	RGD:1323042	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:10825362|PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25623524|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611|PMID:30767899|PMID:32848577
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:1826	epilepsy		ISO	RGD:1323042	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure | ClinVar Annotator: match by term: seizures	PMID:23542697|PMID:23542701|PMID:25623524|PMID:25741868|PMID:25741869|PMID:28492532|PMID:30093711|PMID:32848577|PMID:36703223|PMID:38752894|PMID:38974383
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:1827	generalized epilepsy		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:1909	melanoma		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532|PMID:34239491
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:2234	focal epilepsy		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure | ClinVar Annotator: match by term: focal epilepsy	PMID:23542697|PMID:23542701|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868|PMID:30093711
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:3275	thymoma		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1323042	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:630	genetic disease		ISO	RGD:1323042	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17576681|PMID:23542697|PMID:23542701|PMID:23609619|PMID:23869883|PMID:24283814|PMID:24585383|PMID:25366275|PMID:25599672|PMID:25741868|PMID:25741869|PMID:26467025|PMID:27066554|PMID:28170089|PMID:28492532|PMID:28717674|PMID:29180823|PMID:29358611|PMID:30093711|PMID:30767899|PMID:30945278|PMID:32848577|PMID:34953286|PMID:35786744|PMID:36864519|PMID:37006128|PMID:39434542|PMID:9536098
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323042	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21725309
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9000343	Vision Disorders		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9000831	Hypokinesia		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:25741868|PMID:28492532|PMID:30093711
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9001224	Striae Distensae		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9003507	Premature Birth		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9003889	Focal Cortical Dysplasia of Taylor, Type IIB		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal cortical dysplasia, type IIB	PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323042	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532|PMID:30093711|PMID:34953286|PMID:36864519|PMID:39434542
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9005834	Ependymomas		ISO	RGD:1323042	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:23542697|PMID:23542701|PMID:24591017|PMID:25741868|PMID:28492532|PMID:30093711
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1323042	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532|PMID:30093711|PMID:34953286|PMID:36864519|PMID:39434542
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:16199547|PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9008582	Developmental Disease		ISO	RGD:1323042	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:30093711
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1311535	Depdc5	DEP domain containing 5, GATOR1 subcomplex subunit	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1323042	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:23542697|PMID:23542701|PMID:25741868|PMID:28492532|PMID:30093711|PMID:34953286|PMID:36864519|PMID:39434542
1311536	Kdelr3	KDEL endoplasmic reticulum protein retention receptor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311536	Kdelr3	KDEL endoplasmic reticulum protein retention receptor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311536	Kdelr3	KDEL endoplasmic reticulum protein retention receptor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1323044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311536	Kdelr3	KDEL endoplasmic reticulum protein retention receptor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323044	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311536	Kdelr3	KDEL endoplasmic reticulum protein retention receptor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311536	Kdelr3	KDEL endoplasmic reticulum protein retention receptor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311537	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311537	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311537	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:1115	sarcoma		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311537	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311537	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311537	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311537	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311537	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311537	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311537	Ralgps2	Ral GEF with PH domain and SH3 binding motif 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311538	Tbca	tubulin folding cofactor A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311538	Tbca	tubulin folding cofactor A	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1323048	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9527842
1311539	Ints9	integrator complex subunit 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311539	Ints9	integrator complex subunit 9	gene	DOID:0060058	lymphoma		ISO	RGD:1603989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311539	Ints9	integrator complex subunit 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311539	Ints9	integrator complex subunit 9	gene	DOID:1115	sarcoma		ISO	RGD:1603989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311539	Ints9	integrator complex subunit 9	gene	DOID:1909	melanoma		ISO	RGD:1603989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311539	Ints9	integrator complex subunit 9	gene	DOID:3275	thymoma		ISO	RGD:1603989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311539	Ints9	integrator complex subunit 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311539	Ints9	integrator complex subunit 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1603989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311539	Ints9	integrator complex subunit 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311539	Ints9	integrator complex subunit 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311539	Ints9	integrator complex subunit 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311539	Ints9	integrator complex subunit 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311541	Mmp17	matrix metallopeptidase 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311541	Mmp17	matrix metallopeptidase 17	gene	DOID:1324	lung cancer		ISO	RGD:1323053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311541	Mmp17	matrix metallopeptidase 17	gene	DOID:1909	melanoma		ISO	RGD:1323053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311541	Mmp17	matrix metallopeptidase 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311541	Mmp17	matrix metallopeptidase 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1323053	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311541	Mmp17	matrix metallopeptidase 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311541	Mmp17	matrix metallopeptidase 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311542	Vasp	vasodilator-stimulated phosphoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1323055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311542	Vasp	vasodilator-stimulated phosphoprotein	gene	DOID:4362	cervical cancer		ISO	RGD:1323055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311542	Vasp	vasodilator-stimulated phosphoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311542	Vasp	vasodilator-stimulated phosphoprotein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311542	Vasp	vasodilator-stimulated phosphoprotein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323055	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311542	Vasp	vasodilator-stimulated phosphoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311544	Fam89b	family with sequence similarity 89, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311544	Fam89b	family with sequence similarity 89, member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311545	Polr3c	RNA polymerase III subunit C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311545	Polr3c	RNA polymerase III subunit C	gene	DOID:0060058	lymphoma		ISO	RGD:1323060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311545	Polr3c	RNA polymerase III subunit C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323060	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311545	Polr3c	RNA polymerase III subunit C	gene	DOID:5041	esophageal cancer		ISO	RGD:1323060	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311545	Polr3c	RNA polymerase III subunit C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311545	Polr3c	RNA polymerase III subunit C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311545	Polr3c	RNA polymerase III subunit C	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311545	Polr3c	RNA polymerase III subunit C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311545	Polr3c	RNA polymerase III subunit C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311546	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311546	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311546	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:1550286	D	RGD:13703123|PMID:29926633	20180803	RGD			
1311546	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311546	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311546	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311546	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311546	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311546	Aph1a	aph-1A gamma-secretase subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311547	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311547	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:0051039	primary autosomal recessive microcephaly 28		ISO	RGD:1607047	D	RGD:7240710	20210804	OMIM			
1311547	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:0051039	primary autosomal recessive microcephaly 28		ISO	RGD:1607047	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive	
1311547	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:10534	stomach cancer		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311547	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:1324	lung cancer		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311547	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:1909	melanoma		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311547	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311547	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311547	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:4362	cervical cancer		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311547	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:5041	esophageal cancer		ISO	RGD:1607047	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311547	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311547	Rrp7a	ribosomal RNA processing 7 homolog A	gene	DOID:6039	uveal melanoma		ISO	RGD:1607047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311549	Rasgef1c	RasGEF domain family, member 1C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311549	Rasgef1c	RasGEF domain family, member 1C	gene	DOID:10534	stomach cancer		ISO	RGD:1323065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311549	Rasgef1c	RasGEF domain family, member 1C	gene	DOID:1909	melanoma		ISO	RGD:1323065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311549	Rasgef1c	RasGEF domain family, member 1C	gene	DOID:2394	ovarian cancer		ISO	RGD:1323065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311549	Rasgef1c	RasGEF domain family, member 1C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311549	Rasgef1c	RasGEF domain family, member 1C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311551	Amfr	autocrine motility factor receptor	gene	DOID:0070458	hereditary spastic paraplegia 89		ISO	RGD:1323068	D	RGD:7240710	20230531	OMIM			
1311551	Amfr	autocrine motility factor receptor	gene	DOID:0070458	hereditary spastic paraplegia 89		ISO	RGD:1323068	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 89, autosomal recessive	PMID:25741868
1311551	Amfr	autocrine motility factor receptor	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISS	RGD:1323069	D	RGD:13592920	20260319	MouseDO			
1311551	Amfr	autocrine motility factor receptor	gene	DOID:10534	stomach cancer		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311551	Amfr	autocrine motility factor receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1323068	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22313999
1311551	Amfr	autocrine motility factor receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323068	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9241080
1311551	Amfr	autocrine motility factor receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311551	Amfr	autocrine motility factor receptor	gene	DOID:1115	sarcoma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311551	Amfr	autocrine motility factor receptor	gene	DOID:13938	amenorrhea		ISO	RGD:1323068	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
1311551	Amfr	autocrine motility factor receptor	gene	DOID:1909	melanoma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311551	Amfr	autocrine motility factor receptor	gene	DOID:3070	high grade glioma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311551	Amfr	autocrine motility factor receptor	gene	DOID:3275	thymoma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311551	Amfr	autocrine motility factor receptor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311551	Amfr	autocrine motility factor receptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311551	Amfr	autocrine motility factor receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:1323068	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311551	Amfr	autocrine motility factor receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311551	Amfr	autocrine motility factor receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311551	Amfr	autocrine motility factor receptor	gene	DOID:9000918	Disease Progression		ISO	RGD:1323068	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9241080
1311551	Amfr	autocrine motility factor receptor	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1323068	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1311551	Amfr	autocrine motility factor receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311551	Amfr	autocrine motility factor receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1311551	Amfr	autocrine motility factor receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311552	Ppip5k1	diphosphoinositol pentakisphosphate kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311552	Ppip5k1	diphosphoinositol pentakisphosphate kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1605707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311552	Ppip5k1	diphosphoinositol pentakisphosphate kinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311552	Ppip5k1	diphosphoinositol pentakisphosphate kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311552	Ppip5k1	diphosphoinositol pentakisphosphate kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311553	Hebp2	heme binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1323071	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1311553	Hebp2	heme binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1323071	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1311553	Hebp2	heme binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323071	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311553	Hebp2	heme binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1323071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311553	Hebp2	heme binding protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1323071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311553	Hebp2	heme binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311553	Hebp2	heme binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311553	Hebp2	heme binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311553	Hebp2	heme binding protein 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1323071	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030
1311555	Usp28	ubiquitin specific peptidase 28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311555	Usp28	ubiquitin specific peptidase 28	gene	DOID:10283	prostate cancer		ISO	RGD:1323075	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1311555	Usp28	ubiquitin specific peptidase 28	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311555	Usp28	ubiquitin specific peptidase 28	gene	DOID:1115	sarcoma		ISO	RGD:1323075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311555	Usp28	ubiquitin specific peptidase 28	gene	DOID:1324	lung cancer		ISO	RGD:1323075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311555	Usp28	ubiquitin specific peptidase 28	gene	DOID:1909	melanoma		ISO	RGD:1323075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311555	Usp28	ubiquitin specific peptidase 28	gene	DOID:3070	high grade glioma		ISO	RGD:1323075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311555	Usp28	ubiquitin specific peptidase 28	gene	DOID:4362	cervical cancer		ISO	RGD:1323075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311555	Usp28	ubiquitin specific peptidase 28	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311555	Usp28	ubiquitin specific peptidase 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311555	Usp28	ubiquitin specific peptidase 28	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1323075	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475|PMID:29662167
1311555	Usp28	ubiquitin specific peptidase 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311555	Usp28	ubiquitin specific peptidase 28	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311555	Usp28	ubiquitin specific peptidase 28	gene	DOID:9256	colorectal cancer		ISO	RGD:1323075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311556	Vps18	VPS18 core subunit of CORVET and HOPS complexes	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311556	Vps18	VPS18 core subunit of CORVET and HOPS complexes	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311556	Vps18	VPS18 core subunit of CORVET and HOPS complexes	gene	DOID:1909	melanoma		ISO	RGD:1323077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311556	Vps18	VPS18 core subunit of CORVET and HOPS complexes	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311556	Vps18	VPS18 core subunit of CORVET and HOPS complexes	gene	DOID:5041	esophageal cancer		ISO	RGD:1323077	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311556	Vps18	VPS18 core subunit of CORVET and HOPS complexes	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311556	Vps18	VPS18 core subunit of CORVET and HOPS complexes	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311556	Vps18	VPS18 core subunit of CORVET and HOPS complexes	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311557	Rnf25	ring finger protein 25	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311557	Rnf25	ring finger protein 25	gene	DOID:1324	lung cancer		ISO	RGD:1323079	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311557	Rnf25	ring finger protein 25	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311557	Rnf25	ring finger protein 25	gene	DOID:3070	high grade glioma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311557	Rnf25	ring finger protein 25	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311557	Rnf25	ring finger protein 25	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1323079	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1311557	Rnf25	ring finger protein 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311557	Rnf25	ring finger protein 25	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311557	Rnf25	ring finger protein 25	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311557	Rnf25	ring finger protein 25	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311557	Rnf25	ring finger protein 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311558	Shtn1	shootin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311558	Shtn1	shootin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311558	Shtn1	shootin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311558	Shtn1	shootin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311558	Shtn1	shootin 1	gene	DOID:1324	lung cancer		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311558	Shtn1	shootin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311558	Shtn1	shootin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311558	Shtn1	shootin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311559	Dennd3	DENN domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311559	Dennd3	DENN domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311559	Dennd3	DENN domain containing 3	gene	DOID:0060058	lymphoma		ISO	RGD:1605083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311559	Dennd3	DENN domain containing 3	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1605083	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
1311559	Dennd3	DENN domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311559	Dennd3	DENN domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1605083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311559	Dennd3	DENN domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1605083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311559	Dennd3	DENN domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1605083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311559	Dennd3	DENN domain containing 3	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1605083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311559	Dennd3	DENN domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311559	Dennd3	DENN domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311559	Dennd3	DENN domain containing 3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1605083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311559	Dennd3	DENN domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311559	Dennd3	DENN domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311559	Dennd3	DENN domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:0080473	developmental delay and seizures with or without movement abnormalities		ISO	RGD:1323083	D	RGD:7240710	20190315	OMIM			
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:0080473	developmental delay and seizures with or without movement abnormalities		ISO	RGD:1323083	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | ClinVar Annotator: match by term: Developmental delay and seizures with or without movement abnormalities	PMID:21295282|PMID:21295283|PMID:22110072|PMID:23590195|PMID:23934111|PMID:24033266|PMID:24078709|PMID:24664694|PMID:25066056|PMID:25255364|PMID:25541840|PMID:25741868|PMID:26261414|PMID:27343064|PMID:27652284|PMID:28130426|PMID:28492532|PMID:28542158|PMID:28559085|PMID:29100083|PMID:29276052|PMID:31308101|PMID:31780880|PMID:32817466|PMID:33057194|PMID:33077723|PMID:33798445|PMID:34034154|PMID:34182312|PMID:34275143|PMID:34382076|PMID:34837344|PMID:34906470|PMID:34906498|PMID:37356182|PMID:37776660|PMID:37881805
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:0110059	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keratosis pilaris	PMID:28492532|PMID:29100083|PMID:34382076
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:0110352	retinitis pigmentosa 59		ISO	RGD:1323083	D	RGD:7240710	20140911	OMIM			
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:0110352	retinitis pigmentosa 59		ISO	RGD:1323083	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ibb | ClinVar Annotator: match by term: DHDDS-CDG | ClinVar Annotator: match by term: DHDDS-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 59 | ClinVar Annotator: match by term: Retinitis pigmentosa type 59	PMID:16199547|PMID:17576681|PMID:21295282|PMID:21295283|PMID:22110072|PMID:23590195|PMID:24033266|PMID:24078709|PMID:24664694|PMID:24664742|PMID:25066056|PMID:25255364|PMID:25541840|PMID:25741868|PMID:26261414|PMID:27343064|PMID:27652284|PMID:28130426|PMID:28492532|PMID:28542158|PMID:28559085|PMID:29100083|PMID:29276052|PMID:31047384|PMID:31308101|PMID:31440733|PMID:31780880|PMID:33057194|PMID:33077723|PMID:33798445|PMID:34034154|PMID:34182312|PMID:34275143|PMID:34382076|PMID:34837344|PMID:34906470|PMID:35982159|PMID:38451541|PMID:9536098
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:0110352	retinitis pigmentosa 59		ISS	RGD:1323084	D	RGD:13592920	20230718	MouseDO		OMIM:613861	
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:28492532|PMID:29100083|PMID:34382076
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1323083	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:21295282|PMID:21295283|PMID:22110072|PMID:23590195|PMID:24033266|PMID:24078709|PMID:24664694|PMID:25066056|PMID:25255364|PMID:25541840|PMID:25741868|PMID:26261414|PMID:27343064|PMID:28130426|PMID:28492532|PMID:28542158|PMID:28559085|PMID:29100083|PMID:29276052|PMID:31456290|PMID:33077723|PMID:34382076|PMID:34906470|PMID:37734845
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1323083	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27343064|PMID:27652284|PMID:28492532|PMID:29100083|PMID:31308101|PMID:31780880|PMID:33077723|PMID:34034154|PMID:34382076|PMID:34837344
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:1115	sarcoma		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:11199	hypoparathyroidism		ISO	RGD:1323083	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: hypoparathyroidism	PMID:25741868
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:12859	choreatic disease		ISO	RGD:1323083	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868|PMID:27343064|PMID:27652284|PMID:28492532|PMID:29100083|PMID:31308101|PMID:31780880|PMID:33077723|PMID:34034154|PMID:34382076|PMID:34837344
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:1826	epilepsy		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532|PMID:29100083|PMID:34382076
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:480	movement disease		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532|PMID:29100083|PMID:34382076
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1323083	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:630	genetic disease		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:29100083|PMID:34382076
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:7319	axonal neuropathy		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Axonal neuropathy	PMID:25741868|PMID:28492532|PMID:34906498
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:8501	fundus dystrophy		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:9000495	Tremor		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:28492532|PMID:29100083|PMID:34382076
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:9001510	Funnel Chest		ISO	RGD:1323083	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:27343064|PMID:27652284|PMID:28492532|PMID:29100083|PMID:31308101|PMID:31780880|PMID:33077723|PMID:34034154|PMID:34382076|PMID:34837344
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:9007573	Flatfoot		ISO	RGD:1323083	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:27343064|PMID:27652284|PMID:28492532|PMID:29100083|PMID:31308101|PMID:31780880|PMID:33077723|PMID:34034154|PMID:34382076|PMID:34837344
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:9007722	Myoclonus		ISO	RGD:1323083	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868|PMID:27343064|PMID:27652284|PMID:28492532|PMID:29100083|PMID:31308101|PMID:31780880|PMID:33077723|PMID:34034154|PMID:34382076|PMID:34837344
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323083	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27343064|PMID:27652284|PMID:28492532|PMID:29100083|PMID:31308101|PMID:31780880|PMID:33077723|PMID:34034154|PMID:34382076|PMID:34837344
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:9008675	Dyskinesias		ISO	RGD:1323083	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:25741868|PMID:27343064|PMID:27652284|PMID:28492532|PMID:29100083|PMID:31308101|PMID:31780880|PMID:33077723|PMID:34034154|PMID:34382076|PMID:34837344
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1323083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311560	Dhdds	dehydrodolichyl diphosphate synthase subunit	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1323083	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:27343064|PMID:27652284|PMID:28492532|PMID:29100083|PMID:31308101|PMID:31780880|PMID:33077723|PMID:34034154|PMID:34382076|PMID:34837344
1311561	Stxbp5l	syntaxin binding protein 5L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311561	Stxbp5l	syntaxin binding protein 5L	gene	DOID:10534	stomach cancer		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311561	Stxbp5l	syntaxin binding protein 5L	gene	DOID:1324	lung cancer		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311561	Stxbp5l	syntaxin binding protein 5L	gene	DOID:1909	melanoma		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311561	Stxbp5l	syntaxin binding protein 5L	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311561	Stxbp5l	syntaxin binding protein 5L	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311561	Stxbp5l	syntaxin binding protein 5L	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311561	Stxbp5l	syntaxin binding protein 5L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311561	Stxbp5l	syntaxin binding protein 5L	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311561	Stxbp5l	syntaxin binding protein 5L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311561	Stxbp5l	syntaxin binding protein 5L	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311563	Stt3b	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311563	Stt3b	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311563	Stt3b	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:0080573	congenital disorder of glycosylation Ix		ISO	RGD:1606939	D	RGD:7240710	20140911	OMIM			
1311563	Stt3b	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:0080573	congenital disorder of glycosylation Ix		ISO	RGD:1606939	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x	PMID:25741868|PMID:28492532
1311563	Stt3b	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:1115	sarcoma		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311563	Stt3b	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:2030	anxiety disorder		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1311563	Stt3b	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:4362	cervical cancer		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311563	Stt3b	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311563	Stt3b	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311563	Stt3b	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311563	Stt3b	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311563	Stt3b	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311564	Ypel2	yippee-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311564	Ypel2	yippee-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1604154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311564	Ypel2	yippee-like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311564	Ypel2	yippee-like 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311564	Ypel2	yippee-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311565	Haus8	HAUS augmin-like complex, subunit 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311565	Haus8	HAUS augmin-like complex, subunit 8	gene	DOID:1909	melanoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311565	Haus8	HAUS augmin-like complex, subunit 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311565	Haus8	HAUS augmin-like complex, subunit 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311565	Haus8	HAUS augmin-like complex, subunit 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1604254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311565	Haus8	HAUS augmin-like complex, subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311565	Haus8	HAUS augmin-like complex, subunit 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311565	Haus8	HAUS augmin-like complex, subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311565	Haus8	HAUS augmin-like complex, subunit 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1311566	Emc3	ER membrane protein complex subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311566	Emc3	ER membrane protein complex subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311566	Emc3	ER membrane protein complex subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1601753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311566	Emc3	ER membrane protein complex subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1601753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311566	Emc3	ER membrane protein complex subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1601753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311566	Emc3	ER membrane protein complex subunit 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311566	Emc3	ER membrane protein complex subunit 3	gene	DOID:3275	thymoma		ISO	RGD:1601753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311566	Emc3	ER membrane protein complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311566	Emc3	ER membrane protein complex subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311566	Emc3	ER membrane protein complex subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311567	Cdc42ep4	CDC42 effector protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311568	Slx1b	SLX1 homolog B, structure-specific endonuclease subunit	gene	DOID:0090066	Fanconi-like syndrome		ISS	RGD:1551164	D	RGD:13592920	20180518	MouseDO		OMIM:227850	
1311569	Tlr10	toll like receptor 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311569	Tlr10	toll like receptor 10	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1323096	D	RGD:4889528|PMID:18547625	20101203	RGD		DNA:SNP (human)	
1311569	Tlr10	toll like receptor 10	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1323096	D	RGD:630350413|PMID:37051380	20260113	RGD		DNA:SNP:exon:rs4129009	
1311569	Tlr10	toll like receptor 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311569	Tlr10	toll like receptor 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:0060240	UV-sensitive syndrome		ISO	RGD:1601889	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:0080907	Cockayne syndrome A		ISO	RGD:1601889	D	RGD:10401106|PMID:16865293	20150925	RGD		DNA:mutations:multiple (human)	
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:0080907	Cockayne syndrome A		ISO	RGD:1601889	D	RGD:7240710	20170920	OMIM			
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:0080907	Cockayne syndrome A		ISO	RGD:1601889	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COCKAYNE SYNDROME A | ClinVar Annotator: match by term: Cockayne syndrome  type I | ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome, type A | ClinVar Annotator: match by term: ERCC8-related condition	PMID:14661080|PMID:16199547|PMID:16949367|PMID:17576681|PMID:18414213|PMID:19894250|PMID:21108394|PMID:22829088|PMID:25741868|PMID:26616585|PMID:2829088|PMID:28492532|PMID:29057985|PMID:29422660|PMID:29531219|PMID:29572252|PMID:30182135|PMID:30200888|PMID:30871974|PMID:32048102|PMID:34105807|PMID:7664335|PMID:9536098
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1553774	D	RGD:11567237|PMID:25762674	20170808	RGD		associated with Cockayne Syndrome	
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28492532|PMID:30182135|PMID:30871974
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:10907	microcephaly		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19894250
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:1115	sarcoma		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:19894250
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy	PMID:19894250
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:1612	breast cancer		ISO	RGD:1601889	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868|PMID:28492532
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1601889	D	RGD:10401108|PMID:21108394	20150925	RGD		DNA:nonsense mutation: :p.Y322X (human)	
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1601889	D	RGD:11064547|PMID:19894250	20170808	RGD		DNA:mutations:multiple (human)	
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1601889	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:22466610|PMID:22466612
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1601889	D	RGD:7246919|PMID:22824526	20130626	RGD			
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cockayne syndrome	PMID:14661080|PMID:16949367|PMID:17576681|PMID:19894250|PMID:25741868|PMID:28492532|PMID:29531219|PMID:29572252|PMID:30182135|PMID:30871974|PMID:32048102|PMID:36231052|PMID:9536098
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:2962	Cockayne syndrome		ISS	RGD:1553774	D	RGD:13592920	20230718	MouseDO			
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:3275	thymoma		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:3652	Leigh disease		ISO	RGD:8660129	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868|PMID:28492532
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:5679	retinal disease		ISO	RGD:1553774	D	RGD:10401109|PMID:17145777	20150925	RGD			
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1601889	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:630	genetic disease		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:9000316	UV-Sensitive Syndrome 2		ISO	RGD:1601889	D	RGD:7240710	20140903	OMIM			
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:9000316	UV-Sensitive Syndrome 2		ISO	RGD:1601889	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 2 | ClinVar Annotator: match by term: UV-sensitive syndrome 2	PMID:14661080|PMID:16949367|PMID:17576681|PMID:18414213|PMID:19894250|PMID:21108394|PMID:22829088|PMID:25741868|PMID:2829088|PMID:28492532|PMID:29531219|PMID:29572252|PMID:30182135|PMID:30871974|PMID:32048102|PMID:34105807|PMID:9536098
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:19894250
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19894250
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311570	Ercc8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311573	Mmp28	matrix metallopeptidase 28	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311573	Mmp28	matrix metallopeptidase 28	gene	DOID:1324	lung cancer		ISO	RGD:1323102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311573	Mmp28	matrix metallopeptidase 28	gene	DOID:4362	cervical cancer		ISO	RGD:1323102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311573	Mmp28	matrix metallopeptidase 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311573	Mmp28	matrix metallopeptidase 28	gene	DOID:9006474	Arterial Occlusive Diseases		ISO	RGD:1323102	D	RGD:401793723|PMID:22721676	20230831	RGD		mRNA:decreased expression:leg blood vessel (human)	
1311573	Mmp28	matrix metallopeptidase 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311573	Mmp28	matrix metallopeptidase 28	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311574	Terf1	telomeric repeat binding factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311574	Terf1	telomeric repeat binding factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311574	Terf1	telomeric repeat binding factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323104	D	RGD:2317220|PMID:20127252	20100322	RGD		protein:increased expression:gastric mucosa (human)	
1311574	Terf1	telomeric repeat binding factor 1	gene	DOID:1612	breast cancer		ISO	RGD:1323104	D	RGD:2317222|PMID:18720522	20100322	RGD		mRNA:decreased expression:breast tumor (human)	
1311574	Terf1	telomeric repeat binding factor 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1323105	D	RGD:2317221|PMID:19679647	20100322	RGD			
1311574	Terf1	telomeric repeat binding factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311574	Terf1	telomeric repeat binding factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311574	Terf1	telomeric repeat binding factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311575	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311575	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:0060058	lymphoma		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311575	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:10534	stomach cancer		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311575	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:1909	melanoma		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311575	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:4362	cervical cancer		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311575	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311575	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311575	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311575	Cracd	capping protein inhibiting regulator of actin dynamics	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2303430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311577	Etv3	ETS variant transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311577	Etv3	ETS variant transcription factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311577	Etv3	ETS variant transcription factor 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1348851	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1311577	Etv3	ETS variant transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311577	Etv3	ETS variant transcription factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:11830	myopia		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:1596	depressive disorder		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:1826	epilepsy		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:2030	anxiety disorder		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:9008023	Memory Disorders		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311578	Ndufaf7	NADH:ubiquinone oxidoreductase complex assembly factor 7	gene	DOID:9834	hyperopia		ISO	RGD:1602217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1311580	Afap1l1	actin filament associated protein 1-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311580	Afap1l1	actin filament associated protein 1-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311580	Afap1l1	actin filament associated protein 1-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311580	Afap1l1	actin filament associated protein 1-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311580	Afap1l1	actin filament associated protein 1-like 1	gene	DOID:440	neuromuscular disease		ISO	RGD:1606158	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
1311580	Afap1l1	actin filament associated protein 1-like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311580	Afap1l1	actin filament associated protein 1-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311580	Afap1l1	actin filament associated protein 1-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311580	Afap1l1	actin filament associated protein 1-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311581	Zbtb48	zinc finger and BTB domain containing 48	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311581	Zbtb48	zinc finger and BTB domain containing 48	gene	DOID:3070	high grade glioma		ISO	RGD:1346774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311581	Zbtb48	zinc finger and BTB domain containing 48	gene	DOID:4362	cervical cancer		ISO	RGD:1346774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311581	Zbtb48	zinc finger and BTB domain containing 48	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311581	Zbtb48	zinc finger and BTB domain containing 48	gene	DOID:5041	esophageal cancer		ISO	RGD:1346774	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311581	Zbtb48	zinc finger and BTB domain containing 48	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311582	Ubn1	ubinuclein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311582	Ubn1	ubinuclein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311582	Ubn1	ubinuclein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311582	Ubn1	ubinuclein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311582	Ubn1	ubinuclein 1	gene	DOID:1115	sarcoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311582	Ubn1	ubinuclein 1	gene	DOID:1324	lung cancer		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311582	Ubn1	ubinuclein 1	gene	DOID:1909	melanoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311582	Ubn1	ubinuclein 1	gene	DOID:3275	thymoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311582	Ubn1	ubinuclein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311582	Ubn1	ubinuclein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323115	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311582	Ubn1	ubinuclein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311582	Ubn1	ubinuclein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311582	Ubn1	ubinuclein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311582	Ubn1	ubinuclein 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1323115	D	RGD:8554872	20150908	ClinVar		ClinVar Annotator: match by term: Non-Immune hydrops fetalis	PMID:26036949
1311582	Ubn1	ubinuclein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311582	Ubn1	ubinuclein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311583	Tead3	TEA domain transcription factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311583	Tead3	TEA domain transcription factor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311583	Tead3	TEA domain transcription factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1323117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311583	Tead3	TEA domain transcription factor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311583	Tead3	TEA domain transcription factor 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311583	Tead3	TEA domain transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311583	Tead3	TEA domain transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311584	Stap1	signal transducing adaptor family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311584	Stap1	signal transducing adaptor family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1603225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1311584	Stap1	signal transducing adaptor family member 1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1603225	D	RGD:8554872	20150707	ClinVar		ClinVar Annotator: match by term: Familial Hypercholesterolemia	PMID:26036859
1311584	Stap1	signal transducing adaptor family member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311584	Stap1	signal transducing adaptor family member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311584	Stap1	signal transducing adaptor family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603225	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311584	Stap1	signal transducing adaptor family member 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311584	Stap1	signal transducing adaptor family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311584	Stap1	signal transducing adaptor family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311584	Stap1	signal transducing adaptor family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1323120	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Fanconi anemia, group A	PMID:19405097|PMID:21279724|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514|PMID:36135330
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:12849	autistic disorder		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:1826	epilepsy		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311585	Vrk2	VRK serine/threonine kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1323120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:10534	stomach cancer		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:1115	sarcoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:1324	lung cancer		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:1909	melanoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:3070	high grade glioma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1323122	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323122	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311586	Ptpn18	protein tyrosine phosphatase, non-receptor type 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311587	Ranbp10	RAN binding protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311587	Ranbp10	RAN binding protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1343804	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311587	Ranbp10	RAN binding protein 10	gene	DOID:1324	lung cancer		ISO	RGD:1343804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311587	Ranbp10	RAN binding protein 10	gene	DOID:1909	melanoma		ISO	RGD:1343804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311587	Ranbp10	RAN binding protein 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311587	Ranbp10	RAN binding protein 10	gene	DOID:4362	cervical cancer		ISO	RGD:1343804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311587	Ranbp10	RAN binding protein 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311587	Ranbp10	RAN binding protein 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311587	Ranbp10	RAN binding protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1343804	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311587	Ranbp10	RAN binding protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311587	Ranbp10	RAN binding protein 10	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1343804	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1311587	Ranbp10	RAN binding protein 10	gene	DOID:9000918	Disease Progression		ISO	RGD:1343804	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1311587	Ranbp10	RAN binding protein 10	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1343804	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1311587	Ranbp10	RAN binding protein 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311588	Riok2	RIO kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311588	Riok2	RIO kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311588	Riok2	RIO kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1323125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311588	Riok2	RIO kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1323125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311588	Riok2	RIO kinase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311588	Riok2	RIO kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311588	Riok2	RIO kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323125	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311588	Riok2	RIO kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311588	Riok2	RIO kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311588	Riok2	RIO kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311588	Riok2	RIO kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22447358
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:7240710	20130221	OMIM			
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome	PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18414213|PMID:19763152|PMID:20307669|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23188138|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:27178444|PMID:27665122|PMID:28402684|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29079548|PMID:29193673|PMID:29345162|PMID:29588463|PMID:29610177|PMID:29715191|PMID:30029497|PMID:30064963|PMID:30311386|PMID:30488743|PMID:31607746|PMID:31630094|PMID:31638414|PMID:31755649|PMID:32531870|PMID:32581362|PMID:32944671|PMID:32973878|PMID:9063741|PMID:9409865|PMID:9536098
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome	PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22498418|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23033341|PMID:23188138|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25469153|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27486776|PMID:27665122|PMID:28112973|PMID:28145517|PMID:28402684|PMID:28432734|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28573831|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29610177|PMID:29681726|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:29976977|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:31106028|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31638414|PMID:31755649|PMID:31810438|PMID:31898538|PMID:32349990|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32867697|PMID:32944671|PMID:32973878|PMID:33179747|PMID:33502066|PMID:33669459|PMID:33924909|PMID:33981653|PMID:34147365|PMID:34148947|PMID:34547244|PMID:34906470|PMID:34935411|PMID:9063741|PMID:9409865|PMID:9536098
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome	PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21158358|PMID:21541333|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22498418|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23033341|PMID:23188138|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:2440063|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24534407|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25469153|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25864795|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26496393|PMID:26566502|PMID:26633542|PMID:26636822|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27375279|PMID:27486776|PMID:27523285|PMID:27665122|PMID:28112973|PMID:28145517|PMID:28224992|PMID:28402684|PMID:28432734|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28518168|PMID:28573831|PMID:2871766|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29610177|PMID:29681726|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:30826590|PMID:31106028|PMID:31308072|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31638414|PMID:31755649|PMID:31810438|PMID:31898538|PMID:31980526|PMID:32037395|PMID:32349990|PMID:32396277|PMID:32451492|PMID:32461654|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32867697|PMID:32870709|PMID:32944671|PMID:32945434|PMID:32973878|PMID:33179747|PMID:33502066|PMID:33608557|PMID:33669459|PMID:33782391|PMID:33924909|PMID:33981653|PMID:34147365|PMID:34148116|PMID:34148947|PMID:34547244|PMID:34716235|PMID:34795310|PMID:34906470|PMID:34935411|PMID:35140360|PMID:35211159|PMID:35352813|PMID:35764379|PMID:35786123|PMID:36109815|PMID:36162988|PMID:36178741|PMID:36252119|PMID:36413997|PMID:36460718|PMID:36646731|PMID:36685911|PMID:36927560|PMID:37321834|PMID:38546151|PMID:38674329|PMID:9063741|PMID:9409865|PMID:9536098
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: ALSTROM SYNDROME | ClinVar Annotator: match by term: Alstrom Syndrome | ClinVar Annotator: match by term: Alstrom syndrome	PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21158358|PMID:21518413|PMID:21541333|PMID:21897446|PMID:22406018|PMID:22447358|PMID:22498418|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23652376|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:2440063|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24534407|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25864795|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26496393|PMID:26535225|PMID:26566502|PMID:26633542|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27375279|PMID:27486776|PMID:27523285|PMID:28112973|PMID:28224992|PMID:28402684|PMID:28432734|PMID:28453600|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28518168|PMID:28573831|PMID:28610912|PMID:28663568|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29681726|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:30826590|PMID:31106028|PMID:31308072|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31755649|PMID:31898538|PMID:31980526|PMID:32349990|PMID:32451492|PMID:32461654|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32867697|PMID:32870709|PMID:32944671|PMID:32973878|PMID:33179747|PMID:33363936|PMID:33410256|PMID:33502066|PMID:33608557|PMID:33669459|PMID:33782391|PMID:33924909|PMID:33969109|PMID:33980730|PMID:33981653|PMID:34147365|PMID:34148116|PMID:34148947|PMID:34547244|PMID:34716235|PMID:34795310|PMID:34828430|PMID:34906470|PMID:35140360|PMID:35211159|PMID:35321175|PMID:35352813|PMID:35702577|PMID:35756836|PMID:35764379|PMID:35786123|PMID:36162988|PMID:36178741|PMID:36206858|PMID:36252119|PMID:36413997|PMID:36440223|PMID:36460718|PMID:36646731|PMID:36685911|PMID:36927560|PMID:37321834|PMID:37439038|PMID:37798099|PMID:38378129|PMID:38546151|PMID:38674329|PMID:38806112|PMID:39138584|PMID:39264219|PMID:39884403|PMID:40676683|PMID:9536098
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:8696016|PMID:22876109	20140808	RGD		DNA:nonsense mutations, frameshift mutation, missense mutation:multiple	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:8696018|PMID:16720663	20140808	RGD		DNA:frameshift mutations, nonsense mutations, missense mutations:multiple	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1616534	D	RGD:8696013|PMID:16513793	20140808	RGD			
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1616534	D	RGD:8696015|PMID:16000322	20140808	RGD			
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISS	RGD:1616534	D	RGD:13592920	20230718	MouseDO		OMIM:203800	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome	susceptibility	ISO	RGD:1323128	D	RGD:1601169|PMID:11941369	20070410	RGD		DNA:frameshift mutations, nonsense mutations	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:11941370|PMID:17594715|PMID:18414213|PMID:24462884|PMID:25741868|PMID:26047050|PMID:26077327|PMID:28112973|PMID:28402684|PMID:28492532|PMID:29588463|PMID:29718281
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050578	occult macular dystrophy		ISO	RGD:1323128	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Occult maculopathy	PMID:25741868|PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:24595103|PMID:25741868
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0060249	scoliosis		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:39138584
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0060260	ptosis		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0080046	Stickler syndrome		ISO	RGD:1323128	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Stickler syndrome	PMID:17594715|PMID:28492532|PMID:30311386
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:22876109|PMID:24033266|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947|PMID:35764379
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:17594715|PMID:25706677|PMID:25741868|PMID:25846608|PMID:28492532|PMID:29718281|PMID:30718709|PMID:32037395|PMID:34906470
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:1059	intellectual disability		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:11941369|PMID:11941370|PMID:16720663|PMID:17594715|PMID:21157496|PMID:21897446|PMID:25741868|PMID:25846608|PMID:26066530|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:35764379|PMID:40676683
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:22876109|PMID:25741868|PMID:28492532|PMID:32483926
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:11782	astigmatism		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:11830	myopia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1323128	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1323128	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22447358
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy	PMID:25741868|PMID:28145517|PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:14250	Down syndrome		ISO	RGD:1323128	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Down syndrome	PMID:28492532|PMID:30311386
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:1432	blindness		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:17594715|PMID:25741868|PMID:25846608|PMID:26111748|PMID:27665122|PMID:27788217|PMID:28407410|PMID:28492532|PMID:28717663|PMID:30484169|PMID:32503575|PMID:38576930
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:1459	hypothyroidism		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:28492532|PMID:39138584
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:1596	depressive disorder		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:1891	optic nerve disease		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:1909	melanoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:11941369|PMID:11941370|PMID:16720663|PMID:17594715|PMID:21157496|PMID:21897446|PMID:25741868|PMID:25846608|PMID:26066530|PMID:28492532|PMID:30064963|PMID:35764379
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:2030	anxiety disorder		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:2841	asthma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:3070	high grade glioma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:3275	thymoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:24400638|PMID:25741868|PMID:25846608|PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:535	sleep disorder		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:5723	optic atrophy		ISO	RGD:1323128	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:7998	hyperthyroidism		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:83	cataract		ISO	RGD:1323128	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:17594715|PMID:25741868|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:40676683
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:8501	fundus dystrophy		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11941369|PMID:11941370|PMID:16720663|PMID:17594715|PMID:18154657|PMID:18414213|PMID:21157496|PMID:21518413|PMID:21897446|PMID:22498418|PMID:23188138|PMID:23847139|PMID:24033266|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24830966|PMID:25296579|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25864795|PMID:26066530|PMID:26082521|PMID:26283575|PMID:26566502|PMID:27375279|PMID:28112973|PMID:28402684|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28573831|PMID:28610912|PMID:28717663|PMID:29193673|PMID:29718281|PMID:30054919|PMID:30064963|PMID:30421101|PMID:30513137|PMID:31456290|PMID:31810438|PMID:31898538|PMID:32451492|PMID:32483926|PMID:32531858|PMID:32870709|PMID:32944671|PMID:33669459|PMID:34148116|PMID:34148947|PMID:34795310|PMID:34906470|PMID:35764379|PMID:38674329|PMID:40676683
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9000343	Vision Disorders		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:11941370|PMID:17594715|PMID:18414213|PMID:24462884|PMID:25741868|PMID:28112973|PMID:28402684|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:31607746|PMID:40676683
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9001733	Tinnitus		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9002916	Hyperphagia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9003137	Photophobia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9003507	Premature Birth		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9003539	Hyperacusis		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9003591	Telecanthus		ISO	RGD:1323128	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:17594715|PMID:25741868|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:40676683
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11941370|PMID:17594715|PMID:18414213|PMID:24462884|PMID:25741868|PMID:28112973|PMID:28402684|PMID:28492532|PMID:29718281|PMID:30311386
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin resistance	PMID:11941370|PMID:17594715|PMID:18414213|PMID:24462884|PMID:25741868|PMID:28112973|PMID:28402684|PMID:28492532|PMID:29718281
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9007736	Vertigo		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9007874	Liver Failure		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:25741868|PMID:28492532
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323128	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17594715|PMID:25741868|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:31607746|PMID:39138584|PMID:40676683
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1323128	D	RGD:8554872	20220426	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9008617	Lethargy		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:25741868|PMID:28492532|PMID:39138584
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9008818	Retinal Dystrophy, Early Onset Severe		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Early-onset severe retinal dystrophy	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9351	diabetes mellitus		ISO	RGD:1323128	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:18154657|PMID:21157496|PMID:21943378|PMID:22876109|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25533962|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26104972|PMID:26239645|PMID:26283575|PMID:26467025|PMID:26636822|PMID:27178444|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29610177
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9351	diabetes mellitus		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:18154657|PMID:21157496|PMID:22876109|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26239645|PMID:26283575|PMID:26467025|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:30421101|PMID:32483926|PMID:32746448|PMID:33669459|PMID:34148947
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:22876109|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:22876109|PMID:24033266|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947|PMID:35764379
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1323128	D	RGD:8696017|PMID:16601972	20140808	RGD		DNA:SNPs: :rs1320374, rs1881245, rs3820700 (human)	
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9452	steatotic liver disease		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:17594715|PMID:22876109|PMID:25741868|PMID:28492532|PMID:31607746
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: Vertical nystagmus	PMID:11941370|PMID:17594715|PMID:18414213|PMID:24462884|PMID:25741868|PMID:28112973|PMID:28402684|PMID:28492532|PMID:29718281|PMID:31607746
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9834	hyperopia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9840	esotropia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9970	obesity		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:11941369|PMID:11941370|PMID:16720663|PMID:17594715|PMID:18414213|PMID:21157496|PMID:21897446|PMID:24462884|PMID:25741868|PMID:25846608|PMID:26066530|PMID:28112973|PMID:28402684|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:31607746|PMID:35764379|PMID:40676683
1311590	Alms1	ALMS1, centrosome and basal body associated protein	gene	DOID:9970	obesity		ISS	RGD:1616534	D	RGD:13592920	20180518	MouseDO		OMIM:601665	
1311591	Sh2d4b	SH2 domain containing 4B	gene	DOID:1115	sarcoma		ISO	RGD:1323129	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311591	Sh2d4b	SH2 domain containing 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1323129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311591	Sh2d4b	SH2 domain containing 4B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:0080000	muscular disease		ISO	RGD:1314835	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9668287
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:0110675	congenital myasthenic syndrome 11		ISO	RGD:1314835	D	RGD:7240710	20180829	OMIM			
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:0110675	congenital myasthenic syndrome 11		ISO	RGD:1314835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 11 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14729848|PMID:15145336|PMID:15282317|PMID:15482960|PMID:16199547|PMID:16770791|PMID:16931511|PMID:16945936|PMID:17576681|PMID:17594401|PMID:17686188|PMID:19620612|PMID:20930056|PMID:21520333|PMID:22326364|PMID:22678886|PMID:25741868|PMID:25741902|PMID:26467025|PMID:26782015|PMID:26927095|PMID:27966543|PMID:28492532|PMID:29054425|PMID:29478601|PMID:30266093|PMID:30266223|PMID:31127727|PMID:31216405|PMID:31680123|PMID:32070632|PMID:32403337|PMID:33820833|PMID:34565654|PMID:34749429|PMID:35982159|PMID:35982160|PMID:36007526|PMID:36591657|PMID:37334785|PMID:38696726|PMID:9536098
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:0110675	congenital myasthenic syndrome 11		ISS	RGD:1314836	D	RGD:13592920	20230718	MouseDO		OMIM:616326	
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1314835	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders	PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17576681|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:21520333|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:27966543|PMID:28492532|PMID:28495245|PMID:29053879|PMID:29054425|PMID:29189923|PMID:29478601|PMID:30124556|PMID:30266223|PMID:31680123|PMID:32070632|PMID:33502061|PMID:9536098
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1314835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: RAPSN-Related Disorders | ClinVar Annotator: match by term: RAPSN-related disorder | ClinVar Annotator: match by term: RAPSN-related disorders	PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15252722|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16770791|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17686188|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22326364|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:27397848|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:29478601|PMID:30124556|PMID:30266223|PMID:31127727|PMID:31549961|PMID:31680123|PMID:33820833|PMID:34565654|PMID:36007526|PMID:36522822|PMID:36591657|PMID:37334785|PMID:38696726
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:0111378	fetal akinesia deformation sequence syndrome 2		ISO	RGD:1314835	D	RGD:7240710	20190501	OMIM			
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:0111378	fetal akinesia deformation sequence syndrome 2		ISO	RGD:1314835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 2 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2	PMID:11791205|PMID:12651869|PMID:12796535|PMID:14729848|PMID:15145336|PMID:15282317|PMID:16199547|PMID:16770791|PMID:16931511|PMID:17686188|PMID:18252226|PMID:19620612|PMID:22326364|PMID:22678886|PMID:25741868|PMID:25741902|PMID:26467025|PMID:28492532|PMID:29478601|PMID:31127727|PMID:33820833|PMID:34302381|PMID:34565654|PMID:36007526|PMID:36591657|PMID:37334785|PMID:38696726
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:11830	myopia		ISO	RGD:1314835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:12651869|PMID:15145336|PMID:15282317|PMID:19620612|PMID:22326364|PMID:25741868|PMID:28492532
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:1324	lung cancer		ISO	RGD:1314835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:1596	depressive disorder		ISO	RGD:1314835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Depression	PMID:12651869|PMID:15145336|PMID:15282317|PMID:19620612|PMID:22326364|PMID:25741868|PMID:28492532
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:2030	anxiety disorder		ISO	RGD:1314835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:12651869|PMID:15145336|PMID:15282317|PMID:19620612|PMID:22326364|PMID:25741868|PMID:28492532
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1314835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome	PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:14504330|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:16199547|PMID:16770791|PMID:16931511|PMID:16945936|PMID:17576681|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:22326364|PMID:22678886|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:27966543|PMID:28492532|PMID:28495245|PMID:29054425|PMID:29478601|PMID:30124556|PMID:30266223|PMID:30293990|PMID:30712878|PMID:31127727|PMID:31680123|PMID:32070632|PMID:32528171|PMID:33255631|PMID:33502061|PMID:33820833|PMID:34033754|PMID:34106991|PMID:34218205|PMID:34565654|PMID:35488281|PMID:36007526|PMID:36307859|PMID:36308527|PMID:36522822|PMID:36591657|PMID:37334785|PMID:37646703|PMID:38278647|PMID:38374194|PMID:38511267|PMID:38696726|PMID:39589458|PMID:9536098
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:417	autoimmune disease		ISO	RGD:1314835	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9668287
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:630	genetic disease		ISO	RGD:1314835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16931511|PMID:17686188|PMID:25741868|PMID:25741902|PMID:26467025|PMID:28492532|PMID:33820833|PMID:36007526|PMID:38696726
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:9008286	Experimental Autoimmune Myasthenia Gravis		IEP		D	RGD:8549750|PMID:19344765	20180326	RGD		protein:decreased expression:neuromuscular junction	
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1314835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:10449659|PMID:25741868
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:9008585	Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency		ISO	RGD:1314835	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1311592	Rapsn	receptor-associated protein of the synapse	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311593	Slain2	SLAIN motif family, member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311593	Slain2	SLAIN motif family, member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311593	Slain2	SLAIN motif family, member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311593	Slain2	SLAIN motif family, member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311593	Slain2	SLAIN motif family, member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1602874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311593	Slain2	SLAIN motif family, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311593	Slain2	SLAIN motif family, member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311593	Slain2	SLAIN motif family, member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311593	Slain2	SLAIN motif family, member 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311593	Slain2	SLAIN motif family, member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:0060903	thrombosis		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombus	PMID:25741868
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:0080177	hepatic veno-occlusive disease		ISO	RGD:1323132	D	RGD:10449042|PMID:12040478	20151215	RGD		protein:decreased activity:plasma (human)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		IEP		D	RGD:2315953|PMID:19652891	20151214	RGD		mRNA, protein:increased expression, increased activity:liver, plasma (rat)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1323132	D	RGD:10449096|PMID:12640381	20151216	RGD		protein:decreased activity:serum (human)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:19880749|PMID:28492532
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:10534	stomach cancer		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:10772	thrombotic thrombocytopenic purpura		IMP		D	RGD:645122460|PMID:41915891	20260409	RGD			
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:1323132	D	RGD:10449028|PMID:9129011	20151214	RGD		protein:decreased activity:plasma (human)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:1323132	D	RGD:10449043|PMID:18031293	20151215	RGD		Adult Onset Purpura, Thrombotic Thrombocytopenic;DNA:missense mutation:cds:p.R1060W (human)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:1323132	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12656756
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:1323132	D	RGD:1598736|PMID:11586351	20151215	RGD		DNA:mutations:multiple (human)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:1323132	D	RGD:7240710	20150826	OMIM			
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:1323132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADAMTS13-related condition | ClinVar Annotator: match by term: Congenital thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY | ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw Schulman Syndrome | ClinVar Annotator: match by term: Upshaw-Schulman syndrome | ClinVar Annotator: match by term: congenital thrombotic thrombocytopenic purpura	PMID:11586351|PMID:12181489|PMID:12393505|PMID:12753286|PMID:14512317|PMID:15009458|PMID:15126318|PMID:16199547|PMID:16388417|PMID:16807643|PMID:17576681|PMID:17849048|PMID:18443791|PMID:18481107|PMID:19786614|PMID:19847791|PMID:20886194|PMID:21228398|PMID:21676167|PMID:21781265|PMID:21937160|PMID:22289888|PMID:22783805|PMID:23058857|PMID:23346910|PMID:23422353|PMID:23648131|PMID:23715102|PMID:24033266|PMID:24288641|PMID:24433405|PMID:24859360|PMID:24936513|PMID:25741868|PMID:27427187|PMID:27802307|PMID:28492532|PMID:28678087|PMID:28858683|PMID:29554699|PMID:29763513|PMID:30046676|PMID:30312976|PMID:30770395|PMID:30792199|PMID:31064749|PMID:31249923|PMID:32103696|PMID:32496441|PMID:34306773|PMID:34355501|PMID:34646728|PMID:34702267|PMID:34789164|PMID:34946607|PMID:35022991|PMID:35586607|PMID:36281781|PMID:36414344|PMID:36987722|PMID:37815743|PMID:38935915|PMID:9536098
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:1323133	D	RGD:10449037|PMID:16200209	20151215	RGD			
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:1115	sarcoma		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:1323132	D	RGD:10449048|PMID:16189276	20151215	RGD		protein:decreased expression, decreased activity:plasma (human)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:13133	HELLP syndrome		ISO	RGD:1323132	D	RGD:10449045|PMID:12969811	20151215	RGD		protein:decreased activity:plasma (human)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:13580	cholestasis		IEP		D	RGD:2315953|PMID:19652891	20151214	RGD		mRNA, protein:increased expression, increased activity:liver, plasma (rat)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:14067	Plasmodium falciparum malaria		ISO	RGD:1323132	D	RGD:10449041|PMID:20062916	20151215	RGD		protein:decreased activity:plasma (human)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1323132	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type	PMID:28492532
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:1588	thrombocytopenia		ISO	RGD:1323132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:21676167|PMID:21781265|PMID:23715102|PMID:24936513|PMID:25741868|PMID:28492532|PMID:34646728
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:1588	thrombocytopenia	ameliorates	ISO	RGD:1323132	D	RGD:645122460|PMID:41915891	20260403	RGD			
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:1909	melanoma		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1323132	D	RGD:8554872	20211214	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:3275	thymoma		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:3326	purpura		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Petechiae	PMID:21676167|PMID:21781265|PMID:23715102|PMID:24936513|PMID:25741868|PMID:28492532|PMID:34646728
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:418	systemic scleroderma		ISO	RGD:1323132	D	RGD:10449040|PMID:12935979	20151215	RGD		protein:decreased expression:plasma (human)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:4362	cervical cancer		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1323132	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:1323132	D	RGD:1598737|PMID:16689760	20061216	RGD		protein:increased expression, increased activity:liver (rat)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:583	hemolytic anemia		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:21676167|PMID:21781265|PMID:23715102|PMID:24936513|PMID:25741868|PMID:28492532|PMID:34646728
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:630	genetic disease		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:37815743
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323132	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1323132	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19260037
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9000326	Thrombotic Microangiopathies		IMP		D	RGD:645122460|PMID:41915891	20260409	RGD			
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9000326	Thrombotic Microangiopathies		ISO	RGD:1323132	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14625834|PMID:16388419
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9000528	Coronary Disease		ISO	RGD:1323132	D	RGD:10449044|PMID:12670342	20151215	RGD		protein:decreased activity:plasma (human)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9000528	Coronary Disease		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Three Vessel Coronary Disease	PMID:25741868
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9000972	Fever		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:21676167|PMID:21781265|PMID:23715102|PMID:24936513|PMID:25741868|PMID:28492532|PMID:34646728
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9001553	Spinal Cord Compression		IEP		D	RGD:10449098|PMID:22425718	20151216	RGD		mRNA, protein:increased expression, increased activity:spinal cord (rat)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9002448	Thrombotic Thrombocytopenic Purpura, Acquired		ISO	RGD:1323132	D	RGD:10449039|PMID:9828246	20151215	RGD			
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9002448	Thrombotic Thrombocytopenic Purpura, Acquired	treatment	ISO	RGD:1323132	D	RGD:10449097|PMID:26338302	20151216	RGD		human protein in a rat model	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deep venous thrombosis	PMID:25741868|PMID:34355501
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9003871	Venous Thrombosis	treatment	IDA		D	RGD:10449099|PMID:21095090	20151216	RGD			
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9004898	Jaundice		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:21676167|PMID:21781265|PMID:23715102|PMID:24936513|PMID:25741868|PMID:28492532|PMID:34646728
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9009028	Ecchymosis		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ecchymosis	PMID:21676167|PMID:21781265|PMID:23715102|PMID:24936513|PMID:25741868|PMID:28492532|PMID:34646728
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323132	D	RGD:10449040|PMID:12935979	20151215	RGD		protein:decreased expression:plasma (human)	
1311594	Adamts13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311595	Brd10	bromodomain containing 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311595	Brd10	bromodomain containing 10	gene	DOID:1115	sarcoma		ISO	RGD:1323134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311595	Brd10	bromodomain containing 10	gene	DOID:4362	cervical cancer		ISO	RGD:1323134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311595	Brd10	bromodomain containing 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1323134	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311595	Brd10	bromodomain containing 10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311595	Brd10	bromodomain containing 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311595	Brd10	bromodomain containing 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311596	Mybpc2	myosin binding protein C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311596	Mybpc2	myosin binding protein C2	gene	DOID:1909	melanoma		ISO	RGD:1323136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311596	Mybpc2	myosin binding protein C2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323136	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311596	Mybpc2	myosin binding protein C2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311596	Mybpc2	myosin binding protein C2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311596	Mybpc2	myosin binding protein C2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311596	Mybpc2	myosin binding protein C2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311597	Cers5	ceramide synthase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1323138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311597	Cers5	ceramide synthase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311597	Cers5	ceramide synthase 5	gene	DOID:1115	sarcoma		ISO	RGD:1323138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311597	Cers5	ceramide synthase 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311597	Cers5	ceramide synthase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311597	Cers5	ceramide synthase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311597	Cers5	ceramide synthase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:0050581	brachydactyly		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:36399132
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1323140	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27399968
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:0060249	scoliosis		ISO	RGD:1323140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:0060260	ptosis		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:0060320	inguinal hernia		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:0060395	chromosome 15q24 deletion syndrome		ISO	RGD:1323140	D	RGD:7240710	20190315	OMIM			
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:0060395	chromosome 15q24 deletion syndrome		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related condition | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: WITTEVEEN-KOLK SYNDROME | ClinVar Annotator: match by term: chromosome 15q24 deletion syndrome	PMID:25741868|PMID:27399968|PMID:28492532|PMID:30267900|PMID:33057194
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1323140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:1059	intellectual disability		ISO	RGD:1323140	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27399968
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:1059	intellectual disability		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:10907	microcephaly		ISO	RGD:1323140	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27399968
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:10907	microcephaly		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17576681|PMID:25741868|PMID:27399968|PMID:28492532|PMID:9536098
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:10908	hydrocephalus		ISO	RGD:1323140	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27399968
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28492532
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:1115	sarcoma		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:12849	autistic disorder		ISO	RGD:1323140	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autistic disorder	PMID:28492532
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:12849	autistic disorder		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:28492532
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:12858	Huntington's disease		ISO	RGD:1323140	D	RGD:5688338|PMID:10441327	20140917	RGD		protein:altered localization:cytoplasm	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:14766	renal agenesis		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal agenesis	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:1826	epilepsy		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:1829	urethral stricture		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urethral stenosis	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:1909	melanoma		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1323140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:224	transient cerebral ischemia		IDA		D	RGD:9495912|PMID:24063527	20140917	RGD			
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:2340	craniosynostosis		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:327	syringomyelia		ISO	RGD:1323140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Syringomyelia	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:4029	gastritis		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastritis	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:4031	eosinophilic gastroenteritis		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eosinophilic gastroenteritis	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:4362	cervical cancer		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:4667	kyphosis		ISO	RGD:1323140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1323140	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:540	strabismus		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:557	kidney disease		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:576	proteinuria		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:630	genetic disease		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:674	cleft palate		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:8577	ulcerative colitis		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ulcerative colitis	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9001031	Retrognathia		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1323140	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27399968
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9002211	Hyperalgesia		IEP		D	RGD:9495916|PMID:17553988	20140917	RGD		associated with Arthritis, Experimental;mRNA:decreased expression:spinal cord, neuron	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9002231	Fetal Growth Retardation		IDA		D	RGD:2311214|PMID:18464933	20140917	RGD			
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323140	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:27399968
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1323140	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9004898	Jaundice		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9004999	APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplasia/hypoplasia involving bones of the lower limbs	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9007573	Flatfoot		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:28492532
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9007661	Dwarfism		ISO	RGD:1323140	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27399968
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9007661	Dwarfism		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:27399968
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9007817	Macroglossia		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9007892	Tics		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Simple febrile seizure	PMID:28492532
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9008385	Vomiting		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1323140	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27399968
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9351	diabetes mellitus		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9834	hyperopia		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1311598	Sin3a	SIN3 transcription regulator family member A	gene	DOID:9970	obesity		ISO	RGD:1323140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:10325	silicosis		ISO	RGD:1323142	D	RGD:730454532|PMID:36099794	20260519	RGD		mRNA, protein:decreased expression:lung	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1602676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1602676	D	RGD:713986024|PMID:35108590	20260514	RGD		mRNA:increased expression:amygdala	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602676	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:5082	liver cirrhosis	treatment	IEP		D	RGD:713997136|PMID:23851051	20260514	RGD		associated with cholestasis	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:9002283	Experimental Allergic Asthma	treatment	ISO	RGD:1323142	D	RGD:713987555|PMID:26708397	20260514	RGD			
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1323142	D	RGD:713989839|PMID:25319916	20260514	RGD			
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:730454697|PMID:7608134	20260529	RGD		protein:increased expression:granulocyte	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:9005930	Endotoxemia	treatment	IEP		D	RGD:713999864|PMID:39922328	20260514	RGD			
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:9007480	Hyperoxia		IEP		D	RGD:713993607|PMID:23100171	20260514	RGD		mRNA:increased expression:lung	
1311599	Lpcat1	lysophosphatidylcholine acyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311601	Fastk	Fas-activated serine/threonine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311601	Fastk	Fas-activated serine/threonine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311601	Fastk	Fas-activated serine/threonine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311601	Fastk	Fas-activated serine/threonine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311601	Fastk	Fas-activated serine/threonine kinase	gene	DOID:1909	melanoma		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311601	Fastk	Fas-activated serine/threonine kinase	gene	DOID:3275	thymoma		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311601	Fastk	Fas-activated serine/threonine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311601	Fastk	Fas-activated serine/threonine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1605699	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311601	Fastk	Fas-activated serine/threonine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311601	Fastk	Fas-activated serine/threonine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311601	Fastk	Fas-activated serine/threonine kinase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311601	Fastk	Fas-activated serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311602	Bpifb6	BPI fold containing family B, member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311604	Gpr4	G protein-coupled receptor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1323148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311605	Atraid	all-trans retinoic acid-induced differentiation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311605	Atraid	all-trans retinoic acid-induced differentiation factor	gene	DOID:3070	high grade glioma		ISO	RGD:1323150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311605	Atraid	all-trans retinoic acid-induced differentiation factor	gene	DOID:4362	cervical cancer		ISO	RGD:1323150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311605	Atraid	all-trans retinoic acid-induced differentiation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311605	Atraid	all-trans retinoic acid-induced differentiation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311605	Atraid	all-trans retinoic acid-induced differentiation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311606	Drc9	dynein regulatory complex subunit 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311606	Drc9	dynein regulatory complex subunit 9	gene	DOID:10534	stomach cancer		ISO	RGD:1345008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311606	Drc9	dynein regulatory complex subunit 9	gene	DOID:1115	sarcoma		ISO	RGD:1345008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311606	Drc9	dynein regulatory complex subunit 9	gene	DOID:1324	lung cancer		ISO	RGD:1345008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311606	Drc9	dynein regulatory complex subunit 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1345008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311606	Drc9	dynein regulatory complex subunit 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311606	Drc9	dynein regulatory complex subunit 9	gene	DOID:4362	cervical cancer		ISO	RGD:1345008	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311606	Drc9	dynein regulatory complex subunit 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311606	Drc9	dynein regulatory complex subunit 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311606	Drc9	dynein regulatory complex subunit 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311606	Drc9	dynein regulatory complex subunit 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311607	Mcrs1	microspherule protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311607	Mcrs1	microspherule protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311607	Mcrs1	microspherule protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311607	Mcrs1	microspherule protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311608	Taf6	TATA-box binding protein associated factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311608	Taf6	TATA-box binding protein associated factor 6	gene	DOID:0080505	Cornelia de Lange syndrome 1		ISO	RGD:1323155	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cornelia de Lange syndrome 1	
1311608	Taf6	TATA-box binding protein associated factor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311608	Taf6	TATA-box binding protein associated factor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311608	Taf6	TATA-box binding protein associated factor 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1323155	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311608	Taf6	TATA-box binding protein associated factor 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311608	Taf6	TATA-box binding protein associated factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311608	Taf6	TATA-box binding protein associated factor 6	gene	DOID:630	genetic disease		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311608	Taf6	TATA-box binding protein associated factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311608	Taf6	TATA-box binding protein associated factor 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311608	Taf6	TATA-box binding protein associated factor 6	gene	DOID:9004446	Alazami-Yuan Syndrome		ISO	RGD:1323155	D	RGD:7240710	20190315	OMIM			
1311608	Taf6	TATA-box binding protein associated factor 6	gene	DOID:9004446	Alazami-Yuan Syndrome		ISO	RGD:1323155	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALAZAMI-YUAN SYNDROME | ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition	PMID:11295558|PMID:25741868|PMID:28492532
1311608	Taf6	TATA-box binding protein associated factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311608	Taf6	TATA-box binding protein associated factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:1324	lung cancer		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:3275	thymoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323157	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1323157	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311609	Hsph1	heat shock protein family H (Hsp110) member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311610	Cd22	CD22 molecule	gene	DOID:0050745	diffuse large B-cell lymphoma	treatment	ISO	RGD:1323159	D	RGD:151665133|PMID:25708834	20220311	RGD			
1311610	Cd22	CD22 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311610	Cd22	CD22 molecule	gene	DOID:10534	stomach cancer		ISO	RGD:1323159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311610	Cd22	CD22 molecule	gene	DOID:1909	melanoma		ISO	RGD:1323159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311610	Cd22	CD22 molecule	gene	DOID:3275	thymoma		ISO	RGD:1323159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311610	Cd22	CD22 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311610	Cd22	CD22 molecule	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311610	Cd22	CD22 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311610	Cd22	CD22 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311610	Cd22	CD22 molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111489	combined oxidative phosphorylation deficiency 27		ISO	RGD:1606504	D	RGD:7240710	20160113	OMIM			
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111489	combined oxidative phosphorylation deficiency 27		ISO	RGD:1606504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CARS2-related condition | ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 | ClinVar Annotator: match by term: Combined oxidative phosphorylation defect type 27 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27	PMID:16199547|PMID:17576681|PMID:23142271|PMID:25361775|PMID:25640679|PMID:25741868|PMID:25787132|PMID:26257172|PMID:28492532|PMID:28752220|PMID:31665838|PMID:32571458|PMID:34704010|PMID:34953328|PMID:37151360|PMID:37359369|PMID:9536098
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:1059	intellectual disability		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:25787132|PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:1606504	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:12849	autistic disorder		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1606504	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:32571458
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:3275	thymoma		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:5041	esophageal cancer		ISO	RGD:1606504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1606504	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia	PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:9000727	Syncope		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:9001733	Tinnitus		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003539	Hyperacusis		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005077	Joint Instability		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:25741868|PMID:25787132|PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1606504	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:17576681|PMID:25361775|PMID:25741868|PMID:28492532|PMID:34704010|PMID:37151360|PMID:37359369|PMID:9536098
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:25741868|PMID:28492532|PMID:30139652|PMID:34426522|PMID:34690748|PMID:34704010|PMID:36360262|PMID:37151360
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:9007736	Vertigo		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25787132|PMID:28492532
1311612	Cars2	cysteinyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:0060249	scoliosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:0060319	cardiac arrest		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:0111428	essential tremor 1		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:10283	prostate cancer		ISO	RGD:1323163	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:25741868
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:10283	prostate cancer		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer	PMID:24508459|PMID:25741868|PMID:26344095|PMID:28599312|PMID:28805820|PMID:29996942|PMID:35101336|PMID:36481790
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:10534	stomach cancer		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1323163	D	RGD:153298922|PMID:25204354	20220729	RGD		protein:decreased expression:stomach (human)	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:1059	intellectual disability		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:10908	hydrocephalus		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:11162	respiratory failure		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:11396	pulmonary edema		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary edema	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:11476	osteoporosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:11830	myopia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:12859	choreatic disease		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23559371|PMID:24508459|PMID:25274033|PMID:25278611|PMID:25766326|PMID:26344095|PMID:27993330|PMID:28448495|PMID:28599312|PMID:28805820|PMID:28805821|PMID:2888|PMID:29996942|PMID:31026449|PMID:31495053|PMID:31776466|PMID:31911863|PMID:34987184|PMID:35101336|PMID:36481790
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:1588	thrombocytopenia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:1596	depressive disorder		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:1826	epilepsy		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:1924	hypogonadism		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:2030	anxiety disorder		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:2300	spondylolysis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylolysis	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:2355	anemia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:2712	phimosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phimosis	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:2841	asthma		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:3275	thymoma		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:3326	purpura		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Petechiae	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1323163	D	RGD:153298923|PMID:28927035	20220729	RGD		mRNA, protein:increased expression:lung (human)	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1323163	D	RGD:153298927|PMID:31105033	20220729	RGD		mRNA, protein:increased expression:lung (human)	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1323163	D	RGD:153298920|PMID:30607139	20220729	RGD		human gene and cell line in mouse model	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:543	dystonia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:5805	subvalvular aortic stenosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Subvalvular aortic stenosis	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:630	genetic disease		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:6364	migraine		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:6682	spondylolisthesis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylolisthesis	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1323163	D	RGD:11074965|PMID:26156804	20220729	RGD		mRNA:decreased expression:liver (human)	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1323163	D	RGD:153298924|PMID:33209975	20220729	RGD		human cells in mouse model	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:687	hepatoblastoma		ISO	RGD:1323163	D	RGD:153298925|PMID:24912477	20220729	RGD		mRNA:decreased expression:liver (human)	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9000343	Vision Disorders		ISO	RGD:1323163	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:32109420|PMID:33057194|PMID:35982159
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9000641	Pain		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9000727	Syncope		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9001031	Retrognathia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9001256	Nabais Sa-de Vries Syndrome, Type 1		ISO	RGD:1323163	D	RGD:7240710	20200520	OMIM			
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9001256	Nabais Sa-de Vries Syndrome, Type 1		ISO	RGD:1323163	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: NABAIS SA-DE VRIES SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies | ClinVar Annotator: match by term: SPOP-related condition | ClinVar Annotator: match by term: SPOP-related neurodevelopmental condition	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9001581	Constipation		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9001722	Dysarthria		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9002079	Paresis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1323163	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:22610119|PMID:29295717|PMID:29610475
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9003133	Hypertelorism		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9003760	Myalgia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9004007	Nabais Sa-de Vries Syndrome, Type 2		ISO	RGD:1323163	D	RGD:7240710	20200520	OMIM			
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9004007	Nabais Sa-de Vries Syndrome, Type 2		ISO	RGD:1323163	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NABAIS SA-DE VRIES SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Nabais Sa-de Vries syndrome, type 2 | ClinVar Annotator: match by term: Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	PMID:25741868|PMID:28492532|PMID:29160310|PMID:32109420|PMID:33057194|PMID:35982159
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9004751	Nausea		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nausea	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9005077	Joint Instability		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9006024	Hypotension		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotension	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9006065	Arthralgia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9006617	Fatigue		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9007573	Flatfoot		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1323163	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104009
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9007722	Myoclonus		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9007736	Vertigo		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9008023	Memory Disorders		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9008138	Ductal Carcinoma		ISO	RGD:1323163	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29295717
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9008421	Epistaxis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9008675	Dyskinesias		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematochezia	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9220	central sleep apnea		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central sleep apnea syndrome	PMID:25741868|PMID:32109420
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		mRNA:decreased expression:colorectum (human)	PMID:30171794|REF_RGD_ID:153298926
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1323163	D	RGD:11056110|PMID:26022775	20220729	RGD		protein:decreased expression:colorectum (human)	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1323163	D	RGD:153298921|PMID:28032859	20220729	RGD		DNA:hypermethylation:promoter (human)	
1311613	Spop	speckle type BTB/POZ protein	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:25741868|PMID:32109420
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1353704	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:15060128|PMID:19370764|PMID:20301784|PMID:25741868|PMID:28492532
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:0080070	mucolipidosis II alpha/beta		ISO	RGD:1353704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mucolipidosis II	
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:0080488	mucolipidosis		ISO	RGD:1353704	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Mucolipidoses | ClinVar Annotator: match by term: Mucolipidosis	PMID:24033266|PMID:25741868
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:0080678	mucolipidosis III gamma		ISO	RGD:1353704	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:0080678	mucolipidosis III gamma		ISO	RGD:1353704	D	RGD:7240710	20190315	OMIM			
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:0080678	mucolipidosis III gamma		ISO	RGD:1353704	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GNPTG-related condition | ClinVar Annotator: match by term: MUCOLIPIDOSIS III GAMMA | ClinVar Annotator: match by term: Mucolipidosis III Gamma | ClinVar Annotator: match by term: Mucolipidosis III gamma	PMID:10712439|PMID:15060128|PMID:16199547|PMID:17576681|PMID:19370764|PMID:20147709|PMID:20301784|PMID:23430803|PMID:24033266|PMID:24316125|PMID:25741868|PMID:26108976|PMID:26130485|PMID:26935170|PMID:27038293|PMID:27896079|PMID:28492532|PMID:28950892|PMID:29170090|PMID:29704188|PMID:29872134|PMID:30507725|PMID:30548430|PMID:30882951|PMID:9536098
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1353704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1353704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:3343	glycoproteinosis		ISO	RGD:1353704	D	RGD:1599045|PMID:10712439	20070112	RGD		mucolipidosis IIIC	
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1353704	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:630	genetic disease		ISO	RGD:1353704	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:8501	fundus dystrophy		ISO	RGD:1353704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311614	Gnptg	N-acetylglucosamine-1-phosphate transferase subunit gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311617	Khdc3	KH domain containing 3, subcortical maternal complex member	gene	DOID:630	genetic disease		ISO	RGD:1604735	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311617	Khdc3	KH domain containing 3, subcortical maternal complex member	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311617	Khdc3	KH domain containing 3, subcortical maternal complex member	gene	DOID:9005147	Hydatidiform Mole		ISO	RGD:1604735	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1311617	Khdc3	KH domain containing 3, subcortical maternal complex member	gene	DOID:9005147	Hydatidiform Mole		ISO	RGD:1604735	D	RGD:8554872	20210309	ClinVar		ClinVar Annotator: match by term: Hydatidiform mole	PMID:25741868
1311617	Khdc3	KH domain containing 3, subcortical maternal complex member	gene	DOID:9006297	Hydatidiform Mole, Recurrent, 2		ISO	RGD:1604735	D	RGD:7240710	20140911	OMIM			
1311617	Khdc3	KH domain containing 3, subcortical maternal complex member	gene	DOID:9006297	Hydatidiform Mole, Recurrent, 2		ISO	RGD:1604735	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYDATIDIFORM MOLE, RECURRENT, 2 | ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2	PMID:21885028|PMID:23232697|PMID:24033266|PMID:25741868
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:0060707	lymphoproliferative syndrome 1		ISO	RGD:1323169	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:0060707	lymphoproliferative syndrome 1		ISO	RGD:1323169	D	RGD:7240710	20130221	OMIM			
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:0060707	lymphoproliferative syndrome 1		ISO	RGD:1323169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ITK-related disorder | ClinVar Annotator: match by term: LYMPHOPROLIFERATIVE SYNDROME 1 | ClinVar Annotator: match by term: Lymphoproliferative syndrome 1	PMID:16199547|PMID:16860760|PMID:17412921|PMID:17576681|PMID:19425169|PMID:19535334|PMID:19701889|PMID:19717557|PMID:21109689|PMID:22289921|PMID:25339095|PMID:25741868|PMID:26056787|PMID:27454071|PMID:28492532|PMID:31388699|PMID:31507602|PMID:32150605|PMID:32628964|PMID:32888943|PMID:34170459|PMID:8985255|PMID:9536098
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1323169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:1115	sarcoma		ISO	RGD:1323169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:1324	lung cancer		ISO	RGD:1323169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:1909	melanoma		ISO	RGD:1323169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1323169	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:17576681|PMID:22289921|PMID:25741868|PMID:28492532|PMID:9536098
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1323169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:22289921|PMID:25741868|PMID:28492532
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1323169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1323169	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:630	genetic disease		ISO	RGD:1323169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1323169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hodgkin lymphoma	
1311618	Itk	IL2-inducible T-cell kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:0051009	congenital nonspherocytic hemolytic anemia 10		ISO	RGD:1323172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia due to glutathione reductase deficiency	PMID:25741868
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1323172	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:0060260	ptosis		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1323172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:10608	celiac disease		ISO	RGD:1323172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20190752
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:10907	microcephaly		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1323172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:1909	melanoma		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:3347	osteosarcoma		ISO	RGD:1323172	D	RGD:11554173	20220607	CTD		CTD Direct Evidence: marker/mechanism	PMID:34508303
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323172	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:630	genetic disease		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33057194|PMID:35982159
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:783	end stage renal disease	susceptibility	ISO	RGD:1323172	D	RGD:596936222|PMID:19929986	20241226	RGD		associated with type 1 diabetes mellitus;DNA:SNP:5'UTR:rs1749824(human)	
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:9001002	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES		ISO	RGD:1323172	D	RGD:7240710	20200115	OMIM			
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:9001002	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | ClinVar Annotator: match by term: ZMIZ1-related condition	PMID:25741868|PMID:28492532|PMID:29758562|PMID:30639322|PMID:38117436|PMID:38686122
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:9001581	Constipation		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323172	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532|PMID:30639322
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:30639322
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1323172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24836286
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1323172	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1311620	Zmiz1	zinc finger, MIZ-type containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311622	Bsdc1	BSD domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311622	Bsdc1	BSD domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311622	Bsdc1	BSD domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311622	Bsdc1	BSD domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1605672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311622	Bsdc1	BSD domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311622	Bsdc1	BSD domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605672	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311622	Bsdc1	BSD domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311622	Bsdc1	BSD domain containing 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605672	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311622	Bsdc1	BSD domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311623	Btbd3	BTB domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311623	Btbd3	BTB domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311623	Btbd3	BTB domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:0070417	neurodevelopmental disorder with speech impairment and dysmorphic facies		ISO	RGD:1605414	D	RGD:7240710	20201216	OMIM			
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:0070417	neurodevelopmental disorder with speech impairment and dysmorphic facies		ISO	RGD:1605414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and dysmorphic facies | ClinVar Annotator: match by term: SETD1A-related condition | ClinVar Annotator: match by term: neurodevelopmental disorder with speech impairment and dysmorphic facies	PMID:24853937|PMID:25420024|PMID:25741868|PMID:26974950|PMID:31197650|PMID:32346159|PMID:36672956|PMID:37166351
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:0070471	early-onset epilepsy 2		ISO	RGD:1605414	D	RGD:7240710	20200715	OMIM			
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:0070471	early-onset epilepsy 2		ISO	RGD:1605414	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy, early-onset, with or without developmental delay	PMID:25741868|PMID:26974950|PMID:29463886|PMID:31197650|PMID:31595951|PMID:32346159|PMID:36117209|PMID:40225914
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies		ISO	RGD:1605414	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	PMID:25741868
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:10348	blepharophimosis		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:25741868
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1605414	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:26938441|PMID:26974950
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1605414	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1605414	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:5419	schizophrenia		ISO	RGD:1605414	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:26974950|PMID:28492532|PMID:32346159
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:5419	schizophrenia		ISS	RGD:1323179	D	RGD:13592920	20221117	MouseDO		OMIM:181500	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1605414	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:32346159
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605414	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:37000069
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9008582	Developmental Disease		ISO	RGD:1605414	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311624	Setd1a	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1606790	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413734|PMID:24413737
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1606790	D	RGD:150429611|PMID:24122999	20210908	RGD		protein:decreased expression:oral epithelium (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1606790	D	RGD:11038679|PMID:20693430	20160219	RGD		DNA:missense mutations, nonsense mutations, splice-site mutation:multiple	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1606790	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:19483684|PMID:27992414
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1606790	D	RGD:7240710	20141015	OMIM			
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0050908	myelodysplastic syndrome	severity	ISO	RGD:1606790	D	RGD:10450876|PMID:23099237	20160219	RGD		DNA:mutations:multiple	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0050912	colon adenoma		ISO	RGD:1606790	D	RGD:150429665|PMID:29875879	20210914	RGD		mRNA:decreased expression:colon (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1606790	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:0080188	chronic myelomonocytic leukemia		ISO	RGD:1606790	D	RGD:11038679|PMID:20693430	20160219	RGD		DNA:missense mutations, nonsense mutations, splice-site mutations:multiple	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1606790	D	RGD:150429612|PMID:27027260	20210908	RGD		mRNA, protein:decreased expression:stomach (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1606790	D	RGD:150429653|PMID:31242038	20210912	RGD		associated with Neoplasm Metastasis; human cells in mouse model	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1606790	D	RGD:150429653|PMID:31242038	20210912	RGD		mRNA:decreased expression:stomach (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1606790	D	RGD:150429654|PMID:33058920	20210912	RGD		human cells in mouse model	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:1115	sarcoma		ISO	RGD:1606790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:1612	breast cancer		ISO	RGD:1606790	D	RGD:150429690|PMID:30713804	20210915	RGD		mRNA:increased expression: Blood, peripheral blood mononuclear cells (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:2226	myeloproliferative neoplasm		ISO	RGD:1606790	D	RGD:11038680|PMID:19564637	20160219	RGD		DNA:missense mutations: :p.R686S (c.2058A>T), p.L1340P (c.4019T>C), p.H1868R (c.5603A>G) (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606790	D	RGD:150429686|PMID:31057717	20210915	RGD		mRNA:increased expression:colorectum, Cancer Stem-like Cells (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1606790	D	RGD:11528815|PMID:26093090	20210913	RGD		mRNA:decreased expression:esophagus squamous epithelium (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1606790	D	RGD:150429668|PMID:27050164	20210914	RGD		associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1606790	D	RGD:150429656|PMID:26873401	20210914	RGD		DNA:mutations	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1606790	D	RGD:150429694|PMID:32554069	20210916	RGD		DNA:mutations:multiple	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1606790	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606790	D	RGD:9068941	20220825	RGD		mRNA:decreased expression:liver (human)	PMID:26366235|REF_RGD_ID:150429684
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1606790	D	RGD:150429595|PMID:29331390	20210907	RGD		human cells in mouse model	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1606790	D	RGD:150429597|PMID:33097695	20210908	RGD		human cells in mouse model	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1606790	D	RGD:150429689|PMID:30070373	20210915	RGD		mRNA:decreased expression:liver (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1606790	D	RGD:150429595|PMID:29331390	20210907	RGD		mRNA, protein:increased expression:liver (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:8541	Sezary's disease		ISO	RGD:1606790	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1606790	D	RGD:9068941	20210910	RGD		associated with colorectal cancer; protein:decreased expression:colorectum (human)	PMID:33552282|REF_RGD_ID:150429609
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606790	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23593118
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9004253	Immunoblastic Lymphadenopathy		ISO	RGD:1606790	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413737
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9004473	Monocytosis		ISO	RGD:1323180	D	RGD:11038772|PMID:24218139	20160224	RGD			
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9004835	Immunodeficiency 75		ISO	RGD:1606790	D	RGD:7240710	20210113	OMIM			
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1606790	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9005969	Refractory Anemia with Excess of Blasts	disease_progression	ISO	RGD:1606790	D	RGD:11038682|PMID:25200248	20160219	RGD			
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1606790	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606790	D	RGD:11038681|PMID:23389918	20160219	RGD		DNA:deletions	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1606790	D	RGD:11038682|PMID:25200248	20160219	RGD			
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606790	D	RGD:150429613|PMID:26816554	20210909	RGD		associated with Neoplasm Metastasis; mRNA:decreased expression:colorectum (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606790	D	RGD:150429655|PMID:30013992	20210913	RGD		mRNA, protein:increased expression:colorectum, CD4 positive T cells (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606790	D	RGD:150429665|PMID:29875879	20210914	RGD		mRNA:decreased expression:colon (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606790	D	RGD:150429690|PMID:30713804	20210915	RGD		mRNA:increased expression: Blood, peripheral blood mononuclear cells (human)	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9261	nasopharynx carcinoma	severity	ISO	RGD:1606790	D	RGD:150429610|PMID:32774157	20210908	RGD		human cells in mouse model	
1311625	Tet2	tet methylcytosine dioxygenase 2	gene	DOID:9538	multiple myeloma		ISO	RGD:1606790	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1311626	Ube2k	ubiquitin-conjugating enzyme E2K	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311626	Ube2k	ubiquitin-conjugating enzyme E2K	gene	DOID:1115	sarcoma		ISO	RGD:1323181	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311626	Ube2k	ubiquitin-conjugating enzyme E2K	gene	DOID:3070	high grade glioma		ISO	RGD:1323181	D	RGD:11554173	20260707	CTD		CTD Direct Evidence: marker/mechanism	PMID:38963134
1311626	Ube2k	ubiquitin-conjugating enzyme E2K	gene	DOID:4362	cervical cancer		ISO	RGD:1323181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311626	Ube2k	ubiquitin-conjugating enzyme E2K	gene	DOID:5041	esophageal cancer		ISO	RGD:1323181	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311626	Ube2k	ubiquitin-conjugating enzyme E2K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311626	Ube2k	ubiquitin-conjugating enzyme E2K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:1064	cystinosis		ISO	RGD:1323183	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Nephropathic cystinosis	PMID:25741868
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:1115	sarcoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:1909	melanoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:3275	thymoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323183	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1323183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311627	Slc66a1	solute carrier family 66 member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311628	Prdm8	PR/SET domain 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311628	Prdm8	PR/SET domain 8	gene	DOID:0080600	COVID-19		ISO	RGD:1323184	D	RGD:9068941	20200702	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311628	Prdm8	PR/SET domain 8	gene	DOID:0111445	progressive myoclonus epilepsy 10		ISO	RGD:1323184	D	RGD:7240710	20151209	OMIM			
1311628	Prdm8	PR/SET domain 8	gene	DOID:0111445	progressive myoclonus epilepsy 10		ISO	RGD:1323184	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Early-onset Lafora body disease | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10	PMID:25741868|PMID:28492532|PMID:35034233
1311628	Prdm8	PR/SET domain 8	gene	DOID:10534	stomach cancer		ISO	RGD:1323184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311628	Prdm8	PR/SET domain 8	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1323184	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19874806
1311629	Dapk1	death associated protein kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1311629	Dapk1	death associated protein kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323186	D	RGD:734875|PMID:12124340	20150114	RGD		DNA:hypermethylation	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:13223	uterine fibroid		ISO	RGD:1323186	D	RGD:401851920|PMID:23818951	20231031	RGD		DNA:hypermethylation:uterus (human)	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:1579	respiratory system disease		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23872714
1311629	Dapk1	death associated protein kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1323186	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17133271
1311629	Dapk1	death associated protein kinase 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15172992
1311629	Dapk1	death associated protein kinase 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11313923
1311629	Dapk1	death associated protein kinase 1	gene	DOID:4251	conjunctival disease		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23872714
1311629	Dapk1	death associated protein kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17133271
1311629	Dapk1	death associated protein kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23872714
1311629	Dapk1	death associated protein kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1311629	Dapk1	death associated protein kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1323186	D	RGD:11554173	20240806	CTD		CTD Direct Evidence: therapeutic	PMID:34796763
1311629	Dapk1	death associated protein kinase 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17319784
1311629	Dapk1	death associated protein kinase 1	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1311629	Dapk1	death associated protein kinase 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15172992
1311629	Dapk1	death associated protein kinase 1	gene	DOID:9005715	Neoplasms, Second Primary		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19874806
1311629	Dapk1	death associated protein kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17319784
1311629	Dapk1	death associated protein kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19874806
1311629	Dapk1	death associated protein kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323186	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311629	Dapk1	death associated protein kinase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1323186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:19064721|PMID:24033266|PMID:25741868|PMID:28492532
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:0110912	leukocyte adhesion deficiency 3		ISS	RGD:1556892	D	RGD:13592920	20180518	MouseDO		OMIM:612840	
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:0111051	platelet-type bleeding disorder 18		ISO	RGD:1323188	D	RGD:7240710	20170301	OMIM			
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:0111051	platelet-type bleeding disorder 18		ISO	RGD:1323188	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 18 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 | ClinVar Annotator: match by term: RASGRP2-related condition	PMID:25741868|PMID:27235135|PMID:27663674|PMID:28492532|PMID:28637664|PMID:28960434|PMID:28983057|PMID:30046681|PMID:31064749|PMID:32581362|PMID:33711653|PMID:34355501
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:19064721|PMID:24033266|PMID:25741868|PMID:28492532
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:1909	melanoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1323188	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:28983057|PMID:31064749
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:3275	thymoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:19064721|PMID:24033266|PMID:25741868|PMID:28492532
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:19064721|PMID:24033266|PMID:25741868|PMID:28492532
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:630	genetic disease		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1311630	Rasgrp2	RAS guanyl releasing protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:19064721|PMID:24033266|PMID:25741868|PMID:28492532
1311631	Ckap2	cytoskeleton associated protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311631	Ckap2	cytoskeleton associated protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311632	Cdh26	cadherin 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311632	Cdh26	cadherin 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311632	Cdh26	cadherin 26	gene	DOID:1115	sarcoma		ISO	RGD:1323191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311632	Cdh26	cadherin 26	gene	DOID:1324	lung cancer		ISO	RGD:1323191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311632	Cdh26	cadherin 26	gene	DOID:3275	thymoma		ISO	RGD:1323191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311632	Cdh26	cadherin 26	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311632	Cdh26	cadherin 26	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311632	Cdh26	cadherin 26	gene	DOID:5041	esophageal cancer		ISO	RGD:1323191	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311632	Cdh26	cadherin 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311632	Cdh26	cadherin 26	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311632	Cdh26	cadherin 26	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311634	Anapc15	anaphase promoting complex subunit 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311634	Anapc15	anaphase promoting complex subunit 15	gene	DOID:10534	stomach cancer		ISO	RGD:1601769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311634	Anapc15	anaphase promoting complex subunit 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311634	Anapc15	anaphase promoting complex subunit 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311634	Anapc15	anaphase promoting complex subunit 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311635	Hexim2	HEXIM P-TEFb complex subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311635	Hexim2	HEXIM P-TEFb complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311635	Hexim2	HEXIM P-TEFb complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1601726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:10283	prostate cancer		ISO	RGD:1323197	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:10283	prostate cancer		ISO	RGD:1323197	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:3275	thymoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323197	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311636	Sf3b3	splicing factor 3b, subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:0050840	cervical dystonia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348608	D	RGD:8554872	20210309	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25363768|PMID:25741868|PMID:28191889|PMID:30504930
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:0060249	scoliosis		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:0060321	umbilical hernia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:0061011	craniosynostosis 3		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coronal craniosynostosis	PMID:25741868
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:0080174	bladder exstrophy		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:0080232	autosomal dominant intellectual developmental disorder 51		ISO	RGD:1348608	D	RGD:7240710	20190315	OMIM			
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:0080232	autosomal dominant intellectual developmental disorder 51		ISO	RGD:1348608	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51 | ClinVar Annotator: match by term: KMT5B-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29276005
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:0080833	laryngomalacia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:10534	stomach cancer		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:1059	intellectual disability		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25363768|PMID:25741868|PMID:27854360|PMID:28191889
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:10907	microcephaly		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:11111	hydronephrosis		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:12849	autistic disorder		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25363768|PMID:25741868|PMID:27854360|PMID:28191889
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:1657	ventricular septal defect		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:1826	epilepsy		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:1923	disorder of sexual development		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:2340	craniosynostosis		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metopic synostosis	PMID:25741868
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:2841	asthma		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:5041	esophageal cancer		ISO	RGD:1348608	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:540	strabismus		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:5419	schizophrenia		ISO	RGD:1348608	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:630	genetic disease		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:8927	learning disability		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9000727	Syncope		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9001581	Constipation		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9003133	Hypertelorism		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly | ClinVar Annotator: match by term: Megalencephaly	PMID:25363768|PMID:27854360|PMID:28191889
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348608	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9005077	Joint Instability		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1348608	D	RGD:8554872	20170502	ClinVar		ClinVar Annotator: match by term: Language retardation	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9007661	Dwarfism		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9007817	Macroglossia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9007917	Supernumerary Tooth		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teeth, supernumerary	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348608	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9008957	Urachal Cyst		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urachal cyst	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
1311637	Kmt5b	lysine methyltransferase 5B	gene	DOID:9840	esotropia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
1311638	Cdh16	cadherin 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311638	Cdh16	cadherin 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311638	Cdh16	cadherin 16	gene	DOID:1781	thyroid cancer		ISO	RGD:1323200	D	RGD:13792552|PMID:22028439	20180912	RGD		mRNA, protein:decreased expression:Thyroid	
1311638	Cdh16	cadherin 16	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311638	Cdh16	cadherin 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311639	Cryz	crystallin zeta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311639	Cryz	crystallin zeta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311639	Cryz	crystallin zeta	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1323202	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1311639	Cryz	crystallin zeta	gene	DOID:1115	sarcoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1311639	Cryz	crystallin zeta	gene	DOID:1324	lung cancer		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1311639	Cryz	crystallin zeta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311639	Cryz	crystallin zeta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1311639	Cryz	crystallin zeta	gene	DOID:5041	esophageal cancer		ISO	RGD:1323202	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311639	Cryz	crystallin zeta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311639	Cryz	crystallin zeta	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311639	Cryz	crystallin zeta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1311639	Cryz	crystallin zeta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311639	Cryz	crystallin zeta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311639	Cryz	crystallin zeta	gene	DOID:9256	colorectal cancer		ISO	RGD:1323202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311640	Cep290	centrosomal protein 290	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1323204	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1311640	Cep290	centrosomal protein 290	gene	DOID:0050562	West syndrome		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:16909394|PMID:17345604|PMID:17554762|PMID:17964524|PMID:19823873|PMID:20301475|PMID:20690115|PMID:23343883|PMID:23344081|PMID:23591405|PMID:23661368|PMID:24223178|PMID:24767827|PMID:25741868|PMID:28224992|PMID:28492532|PMID:28510626|PMID:28619647|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29641573|PMID:30193310|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31087526|PMID:31429209|PMID:31734136|PMID:31816670|PMID:31964843|PMID:32037395|PMID:32531858|PMID:32865313|PMID:33546218|PMID:33726816|PMID:33749171|PMID:34031707|PMID:34196655|PMID:34327195|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36537646|PMID:36819107
1311640	Cep290	centrosomal protein 290	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22406018|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:25097241|PMID:25356976|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:27422788|PMID:28157192|PMID:28418496|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29178642|PMID:29261186|PMID:29398085|PMID:29482223|PMID:29518907|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30718709|PMID:31054281|PMID:31069529|PMID:31091803|PMID:31308072|PMID:31345219|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:3253185|PMID:32531858|PMID:32600475|PMID:32619255|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33576794|PMID:33886416|PMID:33924653|PMID:33946315|PMID:34096792|PMID:34196201|PMID:34196655|PMID:34426522|PMID:34582790|PMID:34716235|PMID:34758253|PMID:34821546|PMID:35005812|PMID:35352487|PMID:35764379|PMID:36011402|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36580738|PMID:36819107|PMID:36909829|PMID:36990420|PMID:37510321|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19823873|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22406018|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:25097241|PMID:25356976|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29178642|PMID:29186038|PMID:29261186|PMID:29398085|PMID:29518907|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31054281|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32531858|PMID:32600475|PMID:32619255|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33546218|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:33946315|PMID:34096792|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:34821546|PMID:35352487|PMID:35764379|PMID:36011402|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36580738|PMID:36819107|PMID:36909829|PMID:36990420|PMID:37510321|PMID:38219857|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Meckel Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome | ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19823873|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:25377065|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:27491411|PMID:27894351|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28912962|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29620724|PMID:29641573|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32531858|PMID:32600475|PMID:32864857|PMID:32865313|PMID:33308271|PMID:33546218|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:33946315|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:35352487|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36580738|PMID:36819107|PMID:36909829|PMID:37510321|PMID:38219857|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:0050952	spastic ataxia		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:16909394|PMID:17345604|PMID:17564974|PMID:20690115|PMID:21602930|PMID:23027964|PMID:25741868|PMID:27375279|PMID:28492532|PMID:29398085|PMID:37510321
1311640	Cep290	centrosomal protein 290	gene	DOID:0060249	scoliosis		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:0060321	umbilical hernia		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:0061277	Senior-Loken syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Senior-Loken syndrome 1	PMID:16909394|PMID:17345604|PMID:17564974|PMID:19466712|PMID:20690115|PMID:23188109|PMID:23351400|PMID:25741868|PMID:26092869|PMID:28492532|PMID:30718709
1311640	Cep290	centrosomal protein 290	gene	DOID:0061280	Senior-Loken syndrome 6		ISO	RGD:1604786	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311640	Cep290	centrosomal protein 290	gene	DOID:0061280	Senior-Loken syndrome 6		ISO	RGD:1604786	D	RGD:7240710	20130221	OMIM			
1311640	Cep290	centrosomal protein 290	gene	DOID:0061280	Senior-Loken syndrome 6		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SENIOR-LOKEN SYNDROME 6 | ClinVar Annotator: match by term: Senior-Loken syndrome 6	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19823873|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:27491411|PMID:27894351|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28829391|PMID:28912962|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29620724|PMID:29641573|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32531858|PMID:32865313|PMID:33308271|PMID:33546218|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:35352487|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36580738|PMID:36819107|PMID:36909829|PMID:37510321|PMID:38219857|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica	PMID:16199547|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30718709|PMID:30902645|PMID:31630094|PMID:32865313|PMID:33546218
1311640	Cep290	centrosomal protein 290	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29217415|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29974258|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:36909829|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24474277|PMID:25097241|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27422788|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29178642|PMID:29217415|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29844330|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31630094|PMID:31734136|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:35764379|PMID:36909829|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17576681|PMID:19959640|PMID:20683928|PMID:20690115|PMID:21153841|PMID:21866095|PMID:23188109|PMID:23847139|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29398085|PMID:29482223|PMID:31054281|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31970223|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17576681|PMID:19959640|PMID:20079931|PMID:20683928|PMID:20690115|PMID:21153841|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23847139|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29398085|PMID:29482223|PMID:31054281|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31970223|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33574314|PMID:33749171|PMID:33970760|PMID:34906470|PMID:37510321|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17576681|PMID:19959640|PMID:20079931|PMID:20683928|PMID:20690115|PMID:21153841|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23847139|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27491411|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28914264|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29518907|PMID:30478281|PMID:30718709|PMID:31054281|PMID:31091803|PMID:31429209|PMID:31589614|PMID:31623504|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31964843|PMID:31970223|PMID:32208788|PMID:32531858|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33574314|PMID:33749171|PMID:33924653|PMID:33970760|PMID:34196655|PMID:34426522|PMID:34691137|PMID:34906470|PMID:36369640|PMID:36460718|PMID:37510321|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome type 1	PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:18414213|PMID:20079931|PMID:20301500|PMID:20683928|PMID:20690115|PMID:21153841|PMID:21602930|PMID:23027964|PMID:23188109|PMID:23351400|PMID:23559409|PMID:23847139|PMID:24265693|PMID:24474277|PMID:25377065|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26673778|PMID:27208204|PMID:27375279|PMID:27491411|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29398085|PMID:30476936|PMID:30478281|PMID:30718709|PMID:31054281|PMID:31308072|PMID:31411728|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31970223|PMID:32531858|PMID:32864857|PMID:32865313|PMID:33886416|PMID:33924653|PMID:34691137|PMID:34906470|PMID:35005812|PMID:35764379|PMID:36729443|PMID:36990420|PMID:37510321|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19823873|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21153841|PMID:21228398|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:25377065|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27336129|PMID:27375279|PMID:27491411|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28771248|PMID:28912962|PMID:28914264|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29641573|PMID:29771326|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31087526|PMID:31308072|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31623504|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32165824|PMID:32531858|PMID:32864857|PMID:32865313|PMID:33308271|PMID:33546218|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:33970760|PMID:34196655|PMID:34327195|PMID:34691137|PMID:34906470|PMID:35005812|PMID:35352487|PMID:35627109|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36537646|PMID:36729443|PMID:36819107|PMID:36990420|PMID:37510321|PMID:38219857|PMID:38927562|PMID:3970760|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:18414213|PMID:19466712|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:25377065|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28912962|PMID:29178642|PMID:29398085|PMID:29518907|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29970488|PMID:30718709|PMID:31069529|PMID:31091803|PMID:31308072|PMID:31345219|PMID:31411728|PMID:31589614|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32139166|PMID:32208788|PMID:3253185|PMID:32531858|PMID:32864857|PMID:32865313|PMID:33308271|PMID:33886416|PMID:33924653|PMID:34196201|PMID:34196655|PMID:34426522|PMID:34582790|PMID:34716235|PMID:34758253|PMID:35005812|PMID:35352487|PMID:35764379|PMID:36460718|PMID:36819107|PMID:36909829|PMID:37510321|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19823873|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:25377065|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:27491411|PMID:27894351|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28912962|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29620724|PMID:29641573|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32531858|PMID:32864857|PMID:32865313|PMID:33308271|PMID:33546218|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:35352487|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36537646|PMID:36819107|PMID:36909829|PMID:37510321|PMID:38219857|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0070118	Meckel syndrome 4		ISO	RGD:1604786	D	RGD:11063677|PMID:17564974	20230630	RGD		DNA:mutations:multiple (human)	
1311640	Cep290	centrosomal protein 290	gene	DOID:0070118	Meckel syndrome 4		ISO	RGD:1604786	D	RGD:11070805|PMID:17705300	20161003	RGD		DNA:frameshift mutation:exon:c.5489del (human)	
1311640	Cep290	centrosomal protein 290	gene	DOID:0070118	Meckel syndrome 4		ISO	RGD:1604786	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311640	Cep290	centrosomal protein 290	gene	DOID:0070118	Meckel syndrome 4		ISO	RGD:1604786	D	RGD:7240710	20130221	OMIM			
1311640	Cep290	centrosomal protein 290	gene	DOID:0070118	Meckel syndrome 4		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEP290-related disorder | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome type 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19823873|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:27491411|PMID:27894351|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28912962|PMID:28914264|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31623504|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32531858|PMID:32600475|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33308271|PMID:33546218|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:33946315|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:34906470|PMID:35352487|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36580738|PMID:36819107|PMID:36909829|PMID:37510321|PMID:38219857|PMID:38777102|PMID:38927562|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0070120	Meckel syndrome 6		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Meckel syndrome, type 6	PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25937446|PMID:26092869|PMID:27353947|PMID:28492532|PMID:28559085|PMID:29398085|PMID:29620724|PMID:30718709|PMID:31069529|PMID:31345219|PMID:31411728|PMID:31589614|PMID:31734136|PMID:31879347|PMID:31964843|PMID:32139166|PMID:32531858|PMID:34196201|PMID:34582790|PMID:34716235|PMID:34758253|PMID:36460718|PMID:36819107
1311640	Cep290	centrosomal protein 290	gene	DOID:0070257	congenital disorder of glycosylation type IIe		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CDG IIe	PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25937446|PMID:26092869|PMID:27353947|PMID:28492532|PMID:28559085|PMID:29398085|PMID:29620724|PMID:30718709|PMID:31069529|PMID:31345219|PMID:31411728|PMID:31589614|PMID:31734136|PMID:31879347|PMID:31964843|PMID:32139166|PMID:32531858|PMID:34196201|PMID:34582790|PMID:34716235|PMID:34758253|PMID:36460718|PMID:36819107
1311640	Cep290	centrosomal protein 290	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:16199547|PMID:16909394|PMID:17345604|PMID:17564974|PMID:17617513|PMID:17705300|PMID:20690115|PMID:25525159|PMID:25741868|PMID:27894351|PMID:28492532|PMID:31680349
1311640	Cep290	centrosomal protein 290	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:0110136	Bardet-Biedl syndrome 14		ISO	RGD:1604786	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311640	Cep290	centrosomal protein 290	gene	DOID:0110136	Bardet-Biedl syndrome 14		ISO	RGD:1604786	D	RGD:7240710	20171011	OMIM			
1311640	Cep290	centrosomal protein 290	gene	DOID:0110136	Bardet-Biedl syndrome 14		ISO	RGD:1604786	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 14	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19823873|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21228398|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28714225|PMID:28829391|PMID:28912962|PMID:28914264|PMID:28966547|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29217415|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29518907|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:30193310|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31623504|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31840411|PMID:31877679|PMID:31879347|PMID:31884610|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32483926|PMID:3253185|PMID:32531858|PMID:32579692|PMID:32581362|PMID:32619255|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:34795310|PMID:34906470|PMID:35005812|PMID:35314707|PMID:35627109|PMID:35764379|PMID:35836572|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36729443|PMID:36819107|PMID:36909829|PMID:36990420|PMID:37008293|PMID:37510321|PMID:38709228|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0110136	Bardet-Biedl syndrome 14		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 14	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19823873|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28829391|PMID:28912962|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29844330|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32531858|PMID:32865313|PMID:33308271|PMID:33546218|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:35352487|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36580738|PMID:36819107|PMID:36909829|PMID:37510321|PMID:38219857|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0110291	Leber congenital amaurosis 10		ISO	RGD:1604786	D	RGD:11064164|PMID:17345604	20161003	RGD		DNA:mutations:exon, intron:multiple	
1311640	Cep290	centrosomal protein 290	gene	DOID:0110291	Leber congenital amaurosis 10		ISO	RGD:1604786	D	RGD:11537378|PMID:16909394	20161003	RGD		DNA:frameshift mutations, nonsense mutations:cds, intron:multiple	
1311640	Cep290	centrosomal protein 290	gene	DOID:0110291	Leber congenital amaurosis 10		ISO	RGD:1604786	D	RGD:11537381|PMID:18079693	20161003	RGD			
1311640	Cep290	centrosomal protein 290	gene	DOID:0110291	Leber congenital amaurosis 10		ISO	RGD:1604786	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311640	Cep290	centrosomal protein 290	gene	DOID:0110291	Leber congenital amaurosis 10		ISO	RGD:1604786	D	RGD:7240710	20130221	OMIM			
1311640	Cep290	centrosomal protein 290	gene	DOID:0110291	Leber congenital amaurosis 10		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 10 | ClinVar Annotator: match by term: Leber congenital amaurosis 10	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19823873|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:27491411|PMID:27894351|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28829391|PMID:28912962|PMID:28973549|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29620724|PMID:29641573|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32531858|PMID:32865313|PMID:33308271|PMID:33546218|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:35352487|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36580738|PMID:36819107|PMID:36909829|PMID:37510321|PMID:38219857|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0110291	Leber congenital amaurosis 10		ISS	RGD:1323204	D	RGD:13592920	20230718	MouseDO		OMIM:611755	
1311640	Cep290	centrosomal protein 290	gene	DOID:0110873	holoprosencephaly 9		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar cyst	PMID:16199547|PMID:16909394|PMID:17345604|PMID:17617513|PMID:20690115|PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33886416|PMID:33946315|PMID:33970760|PMID:34096792|PMID:34196655|PMID:34795310|PMID:34906470|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33886416|PMID:33946315|PMID:33970760|PMID:34096792|PMID:34196655|PMID:34321860|PMID:34795310|PMID:34906470|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33886416|PMID:33946315|PMID:33970760|PMID:34096792|PMID:34196655|PMID:34321860|PMID:34795310|PMID:34906470|PMID:36909829|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29217415|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33886416|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34096792|PMID:34196655|PMID:34321860|PMID:34795310|PMID:34906470|PMID:35836572|PMID:36909829|PMID:37008293|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29217415|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33886416|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34096792|PMID:34196655|PMID:34321860|PMID:34795310|PMID:34821546|PMID:34906470|PMID:35836572|PMID:36460718|PMID:36493848|PMID:36909829|PMID:37008293|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28966547|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29217415|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31456290|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31840411|PMID:31877679|PMID:31884610|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33886416|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34031707|PMID:34096792|PMID:34196655|PMID:34321860|PMID:34795310|PMID:34821546|PMID:34906470|PMID:35005812|PMID:35314707|PMID:35764379|PMID:35836572|PMID:36460718|PMID:36493848|PMID:36729443|PMID:36909829|PMID:36990420|PMID:37008293|PMID:37510321|PMID:38709228|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28966547|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29217415|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31456290|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31840411|PMID:31877679|PMID:31884610|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34031707|PMID:34096792|PMID:34196655|PMID:34321860|PMID:34795310|PMID:34821546|PMID:34906470|PMID:35005812|PMID:35314707|PMID:35764379|PMID:35836572|PMID:36460718|PMID:36493848|PMID:36729443|PMID:36909829|PMID:36990420|PMID:37008293|PMID:37510321|PMID:38709228|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19823873|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21228398|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27854218|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28914264|PMID:28966547|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29217415|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29518907|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31623504|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31840411|PMID:31877679|PMID:31879347|PMID:31884610|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32483926|PMID:3253185|PMID:32531858|PMID:32579692|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34031707|PMID:34096792|PMID:34196201|PMID:34196655|PMID:34321860|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:34795310|PMID:34821546|PMID:34906470|PMID:35005812|PMID:35314707|PMID:35627109|PMID:35764379|PMID:35836572|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36729443|PMID:36819107|PMID:36909829|PMID:36990420|PMID:37008293|PMID:37510321|PMID:38709228|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19823873|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21228398|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27854218|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28914264|PMID:28966547|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29217415|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29518907|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31623504|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31840411|PMID:31877679|PMID:31879347|PMID:31884610|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32483926|PMID:3253185|PMID:32531858|PMID:32579692|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34031707|PMID:34096792|PMID:34196201|PMID:34196655|PMID:34321860|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:34795310|PMID:34821546|PMID:34906470|PMID:35005812|PMID:35314707|PMID:35627109|PMID:35764379|PMID:35836572|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36580738|PMID:36729443|PMID:36819107|PMID:36909829|PMID:36990420|PMID:37008293|PMID:37510321|PMID:38709228|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:18414213|PMID:20079931|PMID:20301500|PMID:20683928|PMID:20690115|PMID:21153841|PMID:21602930|PMID:23027964|PMID:23188109|PMID:23351400|PMID:23559409|PMID:23847139|PMID:24265693|PMID:24474277|PMID:25377065|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26673778|PMID:27208204|PMID:27375279|PMID:27491411|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29398085|PMID:30476936|PMID:30478281|PMID:30718709|PMID:31054281|PMID:31308072|PMID:31411728|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31970223|PMID:32531858|PMID:32864857|PMID:32865313|PMID:33886416|PMID:33924653|PMID:34691137|PMID:34906470|PMID:35005812|PMID:35764379|PMID:36729443|PMID:36990420|PMID:37510321|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19823873|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21153841|PMID:21228398|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:25377065|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27336129|PMID:27375279|PMID:27491411|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28771248|PMID:28912962|PMID:28914264|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29641573|PMID:29771326|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31087526|PMID:31308072|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31623504|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32165824|PMID:32531858|PMID:32864857|PMID:32865313|PMID:33308271|PMID:33546218|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:33970760|PMID:34196655|PMID:34327195|PMID:34691137|PMID:34906470|PMID:35005812|PMID:35352487|PMID:35627109|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36537646|PMID:36729443|PMID:36819107|PMID:36990420|PMID:37510321|PMID:38219857|PMID:38927562|PMID:3970760|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19823873|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:25377065|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:27491411|PMID:27894351|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28912962|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29620724|PMID:29641573|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32531858|PMID:32864857|PMID:32865313|PMID:33308271|PMID:33546218|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:35352487|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36537646|PMID:36819107|PMID:36909829|PMID:37510321|PMID:38219857|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0111000	Joubert syndrome 5		ISO	RGD:1604786	D	RGD:11537352|PMID:17617513	20160930	RGD		DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple	
1311640	Cep290	centrosomal protein 290	gene	DOID:0111000	Joubert syndrome 5		ISO	RGD:1604786	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311640	Cep290	centrosomal protein 290	gene	DOID:0111000	Joubert syndrome 5		ISO	RGD:1604786	D	RGD:329853747|PMID:17564967	20230615	RGD		DNA:frameshift mutations, nonsense mutations:CDS:multiple (human)	
1311640	Cep290	centrosomal protein 290	gene	DOID:0111000	Joubert syndrome 5		ISO	RGD:1604786	D	RGD:329902080|PMID:27434533	20230630	RGD		DNA:SNPs:multiple (human)	
1311640	Cep290	centrosomal protein 290	gene	DOID:0111000	Joubert syndrome 5		ISO	RGD:1604786	D	RGD:7240710	20130221	OMIM			
1311640	Cep290	centrosomal protein 290	gene	DOID:0111000	Joubert syndrome 5		ISO	RGD:1604786	D	RGD:7246903|PMID:17409309	20160930	RGD		DNA:deletions, insertion: :multiple	
1311640	Cep290	centrosomal protein 290	gene	DOID:0111000	Joubert syndrome 5		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 5 | ClinVar Annotator: match by term: Joubert syndrome 5	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19823873|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:25377065|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29620724|PMID:29641573|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33546218|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:35352487|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36580738|PMID:36819107|PMID:36909829|PMID:37510321|PMID:38219857|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0111000	Joubert syndrome 5		ISS	RGD:1323204	D	RGD:13592920	20230718	MouseDO		OMIM:610188	
1311640	Cep290	centrosomal protein 290	gene	DOID:0111004	Joubert syndrome 9		ISO	RGD:1604786	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 9	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:31970223
1311640	Cep290	centrosomal protein 290	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1604786	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1604786	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29217415|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29974258|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:36909829|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1604786	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29217415|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29974258|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:36909829|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1604786	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29217415|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29974258|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:36909829|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1604786	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24474277|PMID:25097241|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27422788|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29178642|PMID:29217415|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29844330|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31411728|PMID:31630094|PMID:31734136|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:36909829|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1604786	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24474277|PMID:25097241|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27422788|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29178642|PMID:29217415|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29844330|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31630094|PMID:31734136|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:35764379|PMID:36909829|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:18414213|PMID:20079931|PMID:20301500|PMID:20683928|PMID:20690115|PMID:21153841|PMID:21602930|PMID:23027964|PMID:23188109|PMID:23351400|PMID:23559409|PMID:23847139|PMID:24265693|PMID:24474277|PMID:25377065|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26673778|PMID:27208204|PMID:27375279|PMID:27491411|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29398085|PMID:30476936|PMID:30478281|PMID:30718709|PMID:31054281|PMID:31308072|PMID:31411728|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31970223|PMID:32531858|PMID:32864857|PMID:32865313|PMID:33886416|PMID:33924653|PMID:34691137|PMID:34906470|PMID:35005812|PMID:35764379|PMID:36729443|PMID:36990420|PMID:37510321|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19823873|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:25377065|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:27491411|PMID:27894351|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28912962|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29620724|PMID:29641573|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32531858|PMID:32864857|PMID:32865313|PMID:33308271|PMID:33546218|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:35352487|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36537646|PMID:36819107|PMID:36909829|PMID:37510321|PMID:38219857|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:0111682	cystic renal dysplasia		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cystic renal dysplasia	PMID:25741868
1311640	Cep290	centrosomal protein 290	gene	DOID:0112072	nuclear type mitochondrial complex I deficiency 20		ISO	RGD:1604786	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency	PMID:16909394|PMID:17345604|PMID:20690115|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28497568
1311640	Cep290	centrosomal protein 290	gene	DOID:10534	stomach cancer		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311640	Cep290	centrosomal protein 290	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1604786	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25377065|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29343940|PMID:29844330|PMID:30718709|PMID:33546218
1311640	Cep290	centrosomal protein 290	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1604786	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29343940|PMID:29844330|PMID:30190494|PMID:30718709|PMID:33546218
1311640	Cep290	centrosomal protein 290	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1604786	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29343940|PMID:29844330|PMID:30190494|PMID:30718709|PMID:33546218|PMID:34906470
1311640	Cep290	centrosomal protein 290	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1604786	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29343940|PMID:29398085|PMID:29844330|PMID:30190494|PMID:30718709|PMID:31630094|PMID:32865313|PMID:33546218|PMID:33576794|PMID:34321860|PMID:34906470|PMID:36909829
1311640	Cep290	centrosomal protein 290	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1604786	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29343940|PMID:29398085|PMID:29844330|PMID:30190494|PMID:30718709|PMID:31630094|PMID:32865313|PMID:33546218|PMID:33576794|PMID:33924653|PMID:34321860|PMID:34906470|PMID:36909829
1311640	Cep290	centrosomal protein 290	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1604786	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29343940|PMID:29398085|PMID:29844330|PMID:30190494|PMID:30718709|PMID:31630094|PMID:32865313|PMID:33546218|PMID:33576794|PMID:33924653|PMID:34321860|PMID:34906470|PMID:36909829|PMID:38709228
1311640	Cep290	centrosomal protein 290	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1604786	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17554762|PMID:17564974|PMID:17964524|PMID:19466712|PMID:19823873|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21866095|PMID:22334370|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:24223178|PMID:24767827|PMID:25741868|PMID:26092869|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28619647|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31087526|PMID:31429209|PMID:31734136|PMID:31816670|PMID:32037395|PMID:32531858|PMID:32865313|PMID:33546218|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33924653|PMID:34196655|PMID:34321860|PMID:34327195|PMID:34906470|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36537646|PMID:36819107|PMID:36909829|PMID:38777102
1311640	Cep290	centrosomal protein 290	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19823873|PMID:20301475|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23591405|PMID:23954617|PMID:24223178|PMID:24767827|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25937446|PMID:26092869|PMID:27353947|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28510626|PMID:28559085|PMID:28619647|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29620724|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31069529|PMID:31087526|PMID:31345219|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:32037395|PMID:32139166|PMID:32531858|PMID:32865313|PMID:33546218|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33924653|PMID:34196201|PMID:34196655|PMID:34321860|PMID:34327195|PMID:34582790|PMID:34716235|PMID:34758253|PMID:34906470|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36537646|PMID:36819107|PMID:36909829|PMID:38777102
1311640	Cep290	centrosomal protein 290	gene	DOID:1059	intellectual disability		ISO	RGD:1604786	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome	PMID:16909394|PMID:17345604|PMID:17564967|PMID:17964524|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218
1311640	Cep290	centrosomal protein 290	gene	DOID:1059	intellectual disability		ISO	RGD:1604786	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:16909394|PMID:17345604|PMID:17564967|PMID:17964524|PMID:20301475|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218
1311640	Cep290	centrosomal protein 290	gene	DOID:1059	intellectual disability		ISO	RGD:1604786	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16909394|PMID:17345604|PMID:17564967|PMID:17576681|PMID:17964524|PMID:20301475|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:1059	intellectual disability		ISO	RGD:1604786	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16909394|PMID:17345604|PMID:17564967|PMID:17576681|PMID:17964524|PMID:20301475|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218|PMID:38709228|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:1059	intellectual disability		ISO	RGD:1604786	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome	PMID:16909394|PMID:17345604|PMID:17564967|PMID:17576681|PMID:17964524|PMID:19823873|PMID:20301475|PMID:23343883|PMID:23344081|PMID:23591405|PMID:24223178|PMID:24265693|PMID:24767827|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28224992|PMID:28492532|PMID:28510626|PMID:28619647|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:30193310|PMID:30559420|PMID:30576320|PMID:31087526|PMID:31370859|PMID:31429209|PMID:31734136|PMID:31816670|PMID:32037395|PMID:32531858|PMID:32865313|PMID:33546218|PMID:33726816|PMID:33749171|PMID:34196655|PMID:34327195|PMID:3442652|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36537646|PMID:36819107|PMID:38709228|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:1059	intellectual disability		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:1059	intellectual disability		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:16909394|PMID:17345604|PMID:17554762|PMID:17576681|PMID:17964524|PMID:19823873|PMID:20301475|PMID:23343883|PMID:23344081|PMID:23591405|PMID:24223178|PMID:24767827|PMID:25741868|PMID:28224992|PMID:28492532|PMID:28510626|PMID:28619647|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:30193310|PMID:30559420|PMID:30576320|PMID:31087526|PMID:31193260|PMID:31370859|PMID:31429209|PMID:31734136|PMID:31816670|PMID:32037395|PMID:32531858|PMID:32865313|PMID:33546218|PMID:33726816|PMID:33749171|PMID:34196655|PMID:34327195|PMID:3442652|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36537646|PMID:36819107|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:1074	kidney failure		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23591405|PMID:23954617|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26092869|PMID:27353947|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:29518907|PMID:29620724|PMID:30718709|PMID:31069529|PMID:31091803|PMID:31345219|PMID:31411728|PMID:31589614|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:32139166|PMID:32208788|PMID:32531858|PMID:32865313|PMID:33308271|PMID:34196201|PMID:34426522|PMID:34582790|PMID:34716235|PMID:34758253|PMID:36460718|PMID:36819107
1311640	Cep290	centrosomal protein 290	gene	DOID:10907	microcephaly		ISO	RGD:1604786	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:31970223
1311640	Cep290	centrosomal protein 290	gene	DOID:10908	hydrocephalus		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Severe hydrocephalus	PMID:16909394|PMID:17345604|PMID:17564974|PMID:17705300|PMID:20690115|PMID:25525159|PMID:25741868|PMID:27894351|PMID:28492532|PMID:31680349
1311640	Cep290	centrosomal protein 290	gene	DOID:1115	sarcoma		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:1148	polydactyly		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25937446|PMID:26092869|PMID:27353947|PMID:28492532|PMID:28559085|PMID:29398085|PMID:29620724|PMID:30718709|PMID:31069529|PMID:31345219|PMID:31411728|PMID:31589614|PMID:31734136|PMID:31879347|PMID:31964843|PMID:32139166|PMID:32531858|PMID:34196201|PMID:34582790|PMID:34716235|PMID:34758253|PMID:36460718|PMID:36819107
1311640	Cep290	centrosomal protein 290	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868|PMID:28492532|PMID:31970223
1311640	Cep290	centrosomal protein 290	gene	DOID:12712	nephronophthisis		ISO	RGD:1604786	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:32037395|PMID:32581362|PMID:32865313|PMID:33105651|PMID:33546218|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:12712	nephronophthisis		ISO	RGD:1604786	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:12712	nephronophthisis		ISO	RGD:1604786	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:12712	nephronophthisis		ISO	RGD:1604786	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:12712	nephronophthisis		ISO	RGD:1604786	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:27422788|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28844315|PMID:29146704|PMID:29217415|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29974258|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32581362|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:36909829|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:12712	nephronophthisis		ISO	RGD:1604786	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24474277|PMID:25097241|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27422788|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28844315|PMID:29146704|PMID:29178642|PMID:29217415|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29844330|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31411728|PMID:31630094|PMID:31734136|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32581362|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:36909829|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:12712	nephronophthisis		ISO	RGD:1604786	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24474277|PMID:25097241|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27422788|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28844315|PMID:29146704|PMID:29178642|PMID:29217415|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29844330|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31630094|PMID:31734136|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32581362|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:35764379|PMID:36909829|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:12712	nephronophthisis		ISO	RGD:1604786	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17576681|PMID:19959640|PMID:20079931|PMID:20683928|PMID:20690115|PMID:21153841|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23847139|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27422788|PMID:27491411|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28844315|PMID:28914264|PMID:29146704|PMID:29398085|PMID:29482223|PMID:30478281|PMID:31054281|PMID:31091803|PMID:31429209|PMID:31589614|PMID:31623504|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31964843|PMID:31970223|PMID:32208788|PMID:32531858|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33574314|PMID:33749171|PMID:33970760|PMID:34196655|PMID:34426522|PMID:34691137|PMID:34906470|PMID:36369640|PMID:36460718|PMID:37510321|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:12712	nephronophthisis		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:18414213|PMID:20079931|PMID:20301500|PMID:20683928|PMID:20690115|PMID:21153841|PMID:21602930|PMID:23027964|PMID:23188109|PMID:23351400|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24265693|PMID:24474277|PMID:25377065|PMID:25741868|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26673778|PMID:27208204|PMID:27375279|PMID:27491411|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29398085|PMID:29974258|PMID:30190494|PMID:30476936|PMID:30478281|PMID:30718709|PMID:31054281|PMID:31308072|PMID:31411728|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31970223|PMID:32531858|PMID:32600475|PMID:32864857|PMID:32865313|PMID:33886416|PMID:33924653|PMID:33946315|PMID:34196655|PMID:34691137|PMID:34906470|PMID:35005812|PMID:35764379|PMID:36493848|PMID:36580738|PMID:36729443|PMID:36990420|PMID:37510321|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:12712	nephronophthisis		ISO	RGD:1604786	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19823873|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21153841|PMID:21228398|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:25377065|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27336129|PMID:27375279|PMID:27491411|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28771248|PMID:28912962|PMID:28914264|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29641573|PMID:29771326|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31087526|PMID:31308072|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31623504|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32165824|PMID:32531858|PMID:32600475|PMID:32864857|PMID:32865313|PMID:33308271|PMID:33546218|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34327195|PMID:34691137|PMID:34906470|PMID:35005812|PMID:35352487|PMID:35627109|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36580738|PMID:36729443|PMID:36819107|PMID:36990420|PMID:37510321|PMID:38219857|PMID:38927562|PMID:3970760|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:12712	nephronophthisis		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:18414213|PMID:19466712|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:25377065|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26673778|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28912962|PMID:29178642|PMID:29398085|PMID:29482223|PMID:29518907|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30718709|PMID:31069529|PMID:31091803|PMID:31308072|PMID:31345219|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32139166|PMID:32208788|PMID:3253185|PMID:32531858|PMID:32600475|PMID:32864857|PMID:32865313|PMID:33308271|PMID:33886416|PMID:33924653|PMID:33946315|PMID:34196201|PMID:34196655|PMID:34426522|PMID:34582790|PMID:34716235|PMID:34758253|PMID:35005812|PMID:35352487|PMID:35764379|PMID:36460718|PMID:36493848|PMID:36580738|PMID:36819107|PMID:36909829|PMID:37510321|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:12712	nephronophthisis		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19823873|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:25377065|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:27491411|PMID:27894351|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28912962|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29620724|PMID:29641573|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32531858|PMID:32600475|PMID:32864857|PMID:32865313|PMID:33308271|PMID:33546218|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:33946315|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:35352487|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36580738|PMID:36819107|PMID:36909829|PMID:37510321|PMID:38219857|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:12712	nephronophthisis		ISS	RGD:1323204	D	RGD:13592920	20260319	MouseDO			
1311640	Cep290	centrosomal protein 290	gene	DOID:12849	autistic disorder		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868
1311640	Cep290	centrosomal protein 290	gene	DOID:1324	lung cancer		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311640	Cep290	centrosomal protein 290	gene	DOID:1432	blindness		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:16909394|PMID:17345604|PMID:20683928|PMID:20690115|PMID:23188109|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:29518907|PMID:31091803|PMID:31589614|PMID:31734136|PMID:31816670|PMID:31964843|PMID:32208788|PMID:32865313|PMID:33308271|PMID:34426522
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1323204	D	RGD:8662304|PMID:24671090	20140618	RGD			
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29844330|PMID:30718709|PMID:31091803|PMID:31630094|PMID:31680349|PMID:31734136|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:34196655|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29398085|PMID:29482223|PMID:29588463|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29398085|PMID:29482223|PMID:29588463|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31884610|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29771326|PMID:29844330|PMID:29974258|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29771326|PMID:29844330|PMID:29974258|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:34906470|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29771326|PMID:29844330|PMID:29974258|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31456290|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33546218|PMID:33726816|PMID:33924653|PMID:34196655|PMID:34795310|PMID:34906470|PMID:35005812|PMID:35764379|PMID:35836572|PMID:36460718|PMID:36729443|PMID:36909829|PMID:36990420|PMID:37008293|PMID:37510321|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29771326|PMID:29844330|PMID:29974258|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31456290|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33546218|PMID:33726816|PMID:33924653|PMID:34196655|PMID:34795310|PMID:34906470|PMID:35005812|PMID:35764379|PMID:35836572|PMID:36460718|PMID:36729443|PMID:36909829|PMID:36990420|PMID:37008293|PMID:37510321|PMID:38709228|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29771326|PMID:29844330|PMID:29974258|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31456290|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33546218|PMID:33726816|PMID:33749171|PMID:33924653|PMID:34196655|PMID:34795310|PMID:34906470|PMID:35005812|PMID:35764379|PMID:35836572|PMID:36460718|PMID:36729443|PMID:36909829|PMID:36990420|PMID:37008293|PMID:37510321|PMID:38709228|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19823873|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21228398|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28714225|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28914264|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29518907|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30193310|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31623504|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31884610|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32483926|PMID:32531858|PMID:32579692|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33546218|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33924653|PMID:33970760|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:34795310|PMID:34906470|PMID:35005812|PMID:35314707|PMID:35627109|PMID:35764379|PMID:35836572|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36729443|PMID:36819107|PMID:36909829|PMID:36990420|PMID:37008293|PMID:37510321|PMID:38709228|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19823873|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21228398|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28714225|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28914264|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29518907|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30193310|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31623504|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31884610|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32483926|PMID:32531858|PMID:32579692|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33308271|PMID:33546218|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33924653|PMID:33970760|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:34795310|PMID:34906470|PMID:35005812|PMID:35314707|PMID:35627109|PMID:35764379|PMID:35836572|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36729443|PMID:36819107|PMID:36909829|PMID:36990420|PMID:37008293|PMID:37510321|PMID:38709228|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19823873|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21228398|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28714225|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28914264|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29518907|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30193310|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31623504|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31884610|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32483926|PMID:32531858|PMID:32579692|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33308271|PMID:33546218|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33924653|PMID:33970760|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:34795310|PMID:34906470|PMID:35005812|PMID:35314707|PMID:35627109|PMID:35764379|PMID:35836572|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36729443|PMID:36819107|PMID:36909829|PMID:36990420|PMID:37008293|PMID:37510321|PMID:38709228|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19823873|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20301500|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21228398|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28714225|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28914264|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29518907|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30193310|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31623504|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31884610|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32483926|PMID:32531858|PMID:32579692|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33308271|PMID:33546218|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33924653|PMID:33970760|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:34795310|PMID:34906470|PMID:35005812|PMID:35314707|PMID:35627109|PMID:35764379|PMID:35836572|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36729443|PMID:36819107|PMID:36909829|PMID:36990420|PMID:37008293|PMID:37510321|PMID:37734845|PMID:38709228|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19823873|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20301500|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21228398|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28714225|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28914264|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29518907|PMID:29620724|PMID:29641573|PMID:29771326|PMID:29844330|PMID:29970488|PMID:30193310|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31623504|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31884610|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32483926|PMID:32531858|PMID:32579692|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33308271|PMID:33546218|PMID:33576794|PMID:33726816|PMID:33749171|PMID:33924653|PMID:33970760|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:34795310|PMID:34906470|PMID:35005812|PMID:35314707|PMID:35627109|PMID:35764379|PMID:35836572|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36729443|PMID:36819107|PMID:36909829|PMID:36990420|PMID:37008293|PMID:37510321|PMID:37734845|PMID:38709228|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19823873|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20301500|PMID:20683928|PMID:20690115|PMID:20805370|PMID:21068128|PMID:2115384|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:24850569|PMID:25097241|PMID:25356976|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26626312|PMID:26667666|PMID:26673778|PMID:26766544|PMID:27032803|PMID:27160483|PMID:27208204|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27848944|PMID:28005958|PMID:28041643|PMID:28125082|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28714225|PMID:28771248|PMID:28829391|PMID:28912962|PMID:28966547|PMID:28973549|PMID:29053603|PMID:29145603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29217415|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29518907|PMID:29588463|PMID:29641573|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31308072|PMID:31411728|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31840411|PMID:31877679|PMID:31884610|PMID:31964843|PMID:31970223|PMID:31974414|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:3253185|PMID:32531858|PMID:32581362|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34031707|PMID:34196655|PMID:34327195|PMID:34426522|PMID:34691137|PMID:34716235|PMID:34906470|PMID:35005812|PMID:35314707|PMID:35627109|PMID:35764379|PMID:35836572|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36580738|PMID:36729443|PMID:36819107|PMID:36909829|PMID:36918699|PMID:36990420|PMID:37008293|PMID:37217489|PMID:37230223|PMID:37240262|PMID:37510321|PMID:37642804|PMID:37734845|PMID:38219857|PMID:38347443|PMID:38576124|PMID:38662103|PMID:38709228|PMID:38927562|PMID:39189993|PMID:39213781|PMID:39354715|PMID:39766851|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19823873|PMID:19959640|PMID:20130272|PMID:20301475|PMID:20683928|PMID:20690115|PMID:20805370|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24265693|PMID:24474277|PMID:24767827|PMID:24850569|PMID:25097241|PMID:25356976|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26667666|PMID:26673778|PMID:26766544|PMID:27032803|PMID:27160483|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27848944|PMID:27894351|PMID:28005958|PMID:28041643|PMID:28125082|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28714225|PMID:28771248|PMID:28829391|PMID:28912962|PMID:28966547|PMID:28973549|PMID:29053603|PMID:29145603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29217415|PMID:29300386|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29518907|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30193310|PMID:30311386|PMID:30476936|PMID:30478281|PMID:30559420|PMID:30576320|PMID:30718709|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31308072|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31840411|PMID:31877679|PMID:31879347|PMID:31884610|PMID:31964843|PMID:31970223|PMID:31974414|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:3253185|PMID:32531858|PMID:32581362|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33749171|PMID:33886416|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34031707|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:34809537|PMID:34906470|PMID:35005812|PMID:35314707|PMID:35627109|PMID:35764379|PMID:35836572|PMID:36369640|PMID:36460718|PMID:36493848|PMID:36537646|PMID:36580738|PMID:36729443|PMID:36819107|PMID:36909829|PMID:36918699|PMID:36990420|PMID:37008293|PMID:37217489|PMID:37230223|PMID:37240262|PMID:37352859|PMID:37510321|PMID:37642804|PMID:37734845|PMID:38219857|PMID:38347443|PMID:38576124|PMID:38662103|PMID:38709228|PMID:38777102|PMID:38927562|PMID:39189993|PMID:39213781|PMID:39354715|PMID:39766851|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:1826	epilepsy		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:1827	generalized epilepsy		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1604786	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18327255
1311640	Cep290	centrosomal protein 290	gene	DOID:1969	cerebral palsy		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:2975	cystic kidney disease		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	
1311640	Cep290	centrosomal protein 290	gene	DOID:2975	cystic kidney disease		ISS	RGD:1323204	D	RGD:13592920	20180518	MouseDO			
1311640	Cep290	centrosomal protein 290	gene	DOID:3275	thymoma		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:420	hypertrichosis		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:4362	cervical cancer		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:4448	macular degeneration		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:16909394|PMID:17345604|PMID:20683928|PMID:20690115|PMID:23188109|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:29518907|PMID:31091803|PMID:31589614|PMID:31734136|PMID:31816670|PMID:31964843|PMID:32208788|PMID:32865313|PMID:33308271|PMID:34426522
1311640	Cep290	centrosomal protein 290	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532|PMID:31193260|PMID:31370859|PMID:3442652
1311640	Cep290	centrosomal protein 290	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311640	Cep290	centrosomal protein 290	gene	DOID:5041	esophageal cancer		ISO	RGD:1604786	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:557	kidney disease		ISO	RGD:1604786	D	RGD:329901759|PMID:29146704	20230622	RGD		associated with Joubert syndrome 5;DNA:nonsense mutations, frameshift mutations:CDS:multiple (human)	
1311640	Cep290	centrosomal protein 290	gene	DOID:557	kidney disease		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:17564967|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:30476936|PMID:30478281|PMID:31734136|PMID:31816670|PMID:32531858|PMID:34691137
1311640	Cep290	centrosomal protein 290	gene	DOID:5679	retinal disease		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:16199547|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17617513|PMID:20690115|PMID:2115384|PMID:21153841|PMID:21228398|PMID:25741868|PMID:26047050|PMID:26092869|PMID:27491411|PMID:28492532|PMID:29398085|PMID:29641573|PMID:29754767|PMID:29771326|PMID:31087526|PMID:31589614|PMID:31630094|PMID:32165824|PMID:32865313|PMID:33576794|PMID:33970760|PMID:34196655|PMID:35627109|PMID:36460718|PMID:36819107|PMID:38219857|PMID:3970760
1311640	Cep290	centrosomal protein 290	gene	DOID:5723	optic atrophy		ISO	RGD:1604786	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:16199547|PMID:16909394|PMID:17345604|PMID:20690115|PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:630	genetic disease		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:16909394|PMID:17345604|PMID:17576681|PMID:20683928|PMID:20690115|PMID:23188109|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:29518907|PMID:29754767|PMID:29974258|PMID:31091803|PMID:31308072|PMID:31411728|PMID:31589614|PMID:31734136|PMID:31816670|PMID:31964843|PMID:31970223|PMID:32208788|PMID:32865313|PMID:33308271|PMID:34426522|PMID:35764379|PMID:36493848|PMID:36909829|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:630	genetic disease		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16909394|PMID:17345604|PMID:17576681|PMID:20683928|PMID:20690115|PMID:23188109|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26467025|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:29518907|PMID:29974258|PMID:31091803|PMID:31308072|PMID:31411728|PMID:31589614|PMID:31734136|PMID:31816670|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32208788|PMID:32865313|PMID:33308271|PMID:34426522|PMID:35764379|PMID:36493848|PMID:36909829|PMID:38777102|PMID:9536098
1311640	Cep290	centrosomal protein 290	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:8466	retinal degeneration		ISO	RGD:1323204	D	RGD:8662295|PMID:16632484	20140618	RGD			
1311640	Cep290	centrosomal protein 290	gene	DOID:8466	retinal degeneration	onset	ISO	RGD:1323204	D	RGD:11537380|PMID:26936822	20161003	RGD			
1311640	Cep290	centrosomal protein 290	gene	DOID:8488	polyhydramnios		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:8501	fundus dystrophy		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19823873|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24223178|PMID:24767827|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26092869|PMID:26467025|PMID:27208204|PMID:27336129|PMID:27353947|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28619647|PMID:28660274|PMID:28829391|PMID:28844315|PMID:29178642|PMID:29186038|PMID:29398085|PMID:29518907|PMID:29620724|PMID:29641573|PMID:30193310|PMID:30476936|PMID:30478281|PMID:30543658|PMID:30559420|PMID:30576320|PMID:30718709|PMID:30879067|PMID:31069529|PMID:31087526|PMID:31091803|PMID:31193260|PMID:31345219|PMID:31370859|PMID:31411728|PMID:31429209|PMID:31589614|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:31970223|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33249554|PMID:33308271|PMID:33546218|PMID:33726816|PMID:33749171|PMID:33924653|PMID:34196201|PMID:34196655|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34582790|PMID:34691137|PMID:34716235|PMID:34758253|PMID:35314707|PMID:35764379|PMID:36369640|PMID:36460718|PMID:36537646|PMID:36819107
1311640	Cep290	centrosomal protein 290	gene	DOID:9000343	Vision Disorders		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:16909394|PMID:17345604|PMID:20683928|PMID:20690115|PMID:23188109|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:29518907|PMID:31091803|PMID:31589614|PMID:31734136|PMID:31816670|PMID:31964843|PMID:32208788|PMID:32865313|PMID:33308271|PMID:34426522
1311640	Cep290	centrosomal protein 290	gene	DOID:9000378	Congenital Anosmia		ISO	RGD:1323204	D	RGD:8662303|PMID:17898177	20140618	RGD			
1311640	Cep290	centrosomal protein 290	gene	DOID:9000702	Stuve-Wiedemann Syndrome 2		ISO	RGD:1604786	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 2	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:9000831	Hypokinesia		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypokinesia	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:9000983	Encephalocele		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Encephalocele | ClinVar Annotator: match by term: Occipital encephalocele	PMID:16199547|PMID:16909394|PMID:17345604|PMID:17564974|PMID:17705300|PMID:20690115|PMID:25525159|PMID:25741868|PMID:26092869|PMID:27336129|PMID:27894351|PMID:28492532|PMID:31680349|PMID:36819107|PMID:38219857
1311640	Cep290	centrosomal protein 290	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:9003133	Hypertelorism		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1311640	Cep290	centrosomal protein 290	gene	DOID:9004866	Ataxia		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25937446|PMID:26092869|PMID:27353947|PMID:28492532|PMID:28559085|PMID:29398085|PMID:29620724|PMID:30718709|PMID:31069529|PMID:31345219|PMID:31411728|PMID:31589614|PMID:31734136|PMID:31879347|PMID:31964843|PMID:32139166|PMID:32531858|PMID:34196201|PMID:34582790|PMID:34716235|PMID:34758253|PMID:36460718|PMID:36819107
1311640	Cep290	centrosomal protein 290	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25937446|PMID:26092869|PMID:27353947|PMID:28492532|PMID:28559085|PMID:29398085|PMID:29620724|PMID:30718709|PMID:31069529|PMID:31345219|PMID:31411728|PMID:31589614|PMID:31734136|PMID:31879347|PMID:31964843|PMID:32139166|PMID:32531858|PMID:34196201|PMID:34582790|PMID:34716235|PMID:34758253|PMID:36460718|PMID:36819107
1311640	Cep290	centrosomal protein 290	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25937446|PMID:26092869|PMID:27353947|PMID:28492532|PMID:28559085|PMID:29398085|PMID:29620724|PMID:30718709|PMID:31069529|PMID:31345219|PMID:31411728|PMID:31589614|PMID:31734136|PMID:31879347|PMID:31964843|PMID:32139166|PMID:32531858|PMID:34196201|PMID:34582790|PMID:34716235|PMID:34758253|PMID:35764379|PMID:36460718|PMID:36819107
1311640	Cep290	centrosomal protein 290	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532|PMID:31193260|PMID:31370859|PMID:3442652
1311640	Cep290	centrosomal protein 290	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25937446|PMID:26092869|PMID:27353947|PMID:28492532|PMID:28559085|PMID:29398085|PMID:29620724|PMID:30718709|PMID:31069529|PMID:31345219|PMID:31411728|PMID:31589614|PMID:31734136|PMID:31879347|PMID:31964843|PMID:32139166|PMID:32531858|PMID:34196201|PMID:34582790|PMID:34716235|PMID:34758253|PMID:36460718|PMID:36819107
1311640	Cep290	centrosomal protein 290	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532|PMID:31193260|PMID:31370859|PMID:3442652
1311640	Cep290	centrosomal protein 290	gene	DOID:9351	diabetes mellitus		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1604786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:31970223
1311640	Cep290	centrosomal protein 290	gene	DOID:9452	steatotic liver disease		ISO	RGD:1604786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:25741868|PMID:28492532
1311640	Cep290	centrosomal protein 290	gene	DOID:9649	congenital nystagmus		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25937446|PMID:26092869|PMID:27353947|PMID:28492532|PMID:28559085|PMID:29398085|PMID:29620724|PMID:30718709|PMID:31069529|PMID:31345219|PMID:31411728|PMID:31589614|PMID:31734136|PMID:31879347|PMID:31964843|PMID:32139166|PMID:32531858|PMID:34196201|PMID:34582790|PMID:34716235|PMID:34758253|PMID:36460718|PMID:36819107
1311640	Cep290	centrosomal protein 290	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1604786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23591405|PMID:23954617|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25937446|PMID:26092869|PMID:27353947|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:29518907|PMID:29620724|PMID:30718709|PMID:31069529|PMID:31091803|PMID:31345219|PMID:31411728|PMID:31589614|PMID:31734136|PMID:31816670|PMID:31879347|PMID:31964843|PMID:32139166|PMID:32208788|PMID:32531858|PMID:32865313|PMID:33308271|PMID:34196201|PMID:34426522|PMID:34582790|PMID:34716235|PMID:34758253|PMID:36460718|PMID:36819107
1311641	Tbc1d10a	TBC1 domain family, member 10a	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311641	Tbc1d10a	TBC1 domain family, member 10a	gene	DOID:10534	stomach cancer		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311641	Tbc1d10a	TBC1 domain family, member 10a	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311641	Tbc1d10a	TBC1 domain family, member 10a	gene	DOID:1324	lung cancer		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311641	Tbc1d10a	TBC1 domain family, member 10a	gene	DOID:1909	melanoma		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311641	Tbc1d10a	TBC1 domain family, member 10a	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311641	Tbc1d10a	TBC1 domain family, member 10a	gene	DOID:4362	cervical cancer		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311641	Tbc1d10a	TBC1 domain family, member 10a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311641	Tbc1d10a	TBC1 domain family, member 10a	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311641	Tbc1d10a	TBC1 domain family, member 10a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311644	Mogat1	monoacylglycerol O-acyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311644	Mogat1	monoacylglycerol O-acyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311644	Mogat1	monoacylglycerol O-acyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1323209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311644	Mogat1	monoacylglycerol O-acyltransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311645	Enpp6	ectonucleotide pyrophosphatase/phosphodiesterase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1323210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311645	Enpp6	ectonucleotide pyrophosphatase/phosphodiesterase 6	gene	DOID:1115	sarcoma		ISO	RGD:1323210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311645	Enpp6	ectonucleotide pyrophosphatase/phosphodiesterase 6	gene	DOID:12849	autistic disorder		ISO	RGD:1323210	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1311645	Enpp6	ectonucleotide pyrophosphatase/phosphodiesterase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:0050562	West syndrome		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:1059	intellectual disability		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, profound	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:10907	microcephaly		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:10908	hydrocephalus		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:1115	sarcoma		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:12835	quadriplegia		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraplegia	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:12849	autistic disorder		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:1909	melanoma		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:3275	thymoma		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:4362	cervical cancer		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1323212	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:540	strabismus		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:37296101
1311646	Sart3	spliceosome associated factor 3, U4/U6 recycling protein	gene	DOID:9834	hyperopia		ISO	RGD:1323212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:37296101
1311647	Zfp316	zinc finger protein 316	gene	DOID:4362	cervical cancer		ISO	RGD:1323214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311647	Zfp316	zinc finger protein 316	gene	DOID:5041	esophageal cancer		ISO	RGD:1323214	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311647	Zfp316	zinc finger protein 316	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311647	Zfp316	zinc finger protein 316	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311647	Zfp316	zinc finger protein 316	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311647	Zfp316	zinc finger protein 316	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311648	Ldah	lipid droplet associated hydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311648	Ldah	lipid droplet associated hydrolase	gene	DOID:1115	sarcoma		ISO	RGD:1605056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311648	Ldah	lipid droplet associated hydrolase	gene	DOID:2394	ovarian cancer		ISO	RGD:1605056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311648	Ldah	lipid droplet associated hydrolase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311648	Ldah	lipid droplet associated hydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311648	Ldah	lipid droplet associated hydrolase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311648	Ldah	lipid droplet associated hydrolase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605056	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20676098
1311648	Ldah	lipid droplet associated hydrolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311648	Ldah	lipid droplet associated hydrolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:0060478	Zika fever	susceptibility	ISO	RGD:1323217	D	RGD:41789627|PMID:29746837	20210224	RGD		human gene in a mouse model	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:0060478	Zika fever	susceptibility	ISO	RGD:1323218	D	RGD:41789631|PMID:28278235	20210224	RGD			
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:0111975	immunodeficiency 44		ISO	RGD:1323217	D	RGD:7240710	20160120	OMIM			
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:0111975	immunodeficiency 44		ISO	RGD:1323217	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 44 | ClinVar Annotator: match by term: Immunodeficiency 44 | ClinVar Annotator: match by term: STAT2-related condition	PMID:23391734|PMID:24033266|PMID:25741868|PMID:26122121|PMID:28492532
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:12155	lymphocytic choriomeningitis		ISO	RGD:1323218	D	RGD:124715479|PMID:24760883	20210326	RGD			
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:12155	lymphocytic choriomeningitis		ISO	RGD:1323218	D	RGD:42722006|PMID:32094187	20210301	RGD			
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:12205	dengue disease	susceptibility	ISO	RGD:1323218	D	RGD:41789625|PMID:21075352	20210224	RGD			
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:12205	dengue disease	susceptibility	ISO	RGD:1323218	D	RGD:41789629|PMID:21379341	20210224	RGD			
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:1227	neutropenia	susceptibility	ISO	RGD:1323217	D	RGD:41789633|PMID:19200137	20210224	RGD		associated with Chronic Hepatitis C;DNA:SNP:intron 5:g.4757G>T (human)	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:1324	lung cancer		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:1883	hepatitis C		ISO	RGD:1323217	D	RGD:11074283|PMID:26216956	20210326	RGD		protein:increased expression:liver	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:1909	melanoma		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:3070	high grade glioma		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1323217	D	RGD:9068941	20220729	RGD		mRNA:increased expression:stomach (human)	PMID:33042401|REF_RGD_ID:153298934
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:3944	Arenaviridae infectious disease	ameliorates	ISO	RGD:1323218	D	RGD:41789630|PMID:15723812	20210224	RGD			
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323217	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:630	genetic disease		ISO	RGD:1323217	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:9000371	influenza A	exacerbates	ISO	RGD:1323218	D	RGD:41789626|PMID:30337919	20210225	RGD			
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:9004009	Reperfusion Injury		IEP		D	RGD:2303397|PMID:17880360	20090211	RGD		mRNA:increased expression:hippocampus	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:9004137	Bunyaviridae Infections	exacerbates	ISO	RGD:1323218	D	RGD:41789623|PMID:30814285	20210301	RGD			
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:9004379	Vesicular Stomatitis	exacerbates	ISO	RGD:1323218	D	RGD:41789624|PMID:32759968	20210224	RGD			
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:9004484	Sepsis		ISO	RGD:1323217	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sepsis	PMID:23391734|PMID:25741868|PMID:26122121|PMID:28492532|PMID:36976641
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:9006262	Cytomegalovirus Infections	exacerbates	ISO	RGD:1323218	D	RGD:41789628|PMID:29743368	20210224	RGD			
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:9006806	Pseudo-TORCH Syndrome 3		ISO	RGD:1323217	D	RGD:7240710	20200610	OMIM			
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:9006806	Pseudo-TORCH Syndrome 3		ISO	RGD:1323217	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PSEUDO-TORCH SYNDROME 3 | ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3	PMID:25741868|PMID:28492532|PMID:32092142
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:23391734|PMID:26122121|PMID:28492532|PMID:37074537
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1323217	D	RGD:41789632|PMID:30842274	20210224	RGD		mRNA:decreased expression:monocyte (human)	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:9008885	Staphylococcal Infections	ameliorates	ISO	RGD:1323218	D	RGD:41789626|PMID:30337919	20210224	RGD		associated with influenza A	
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1311649	Stat2	signal transducer and activator of transcription 2	gene	DOID:9682	yellow fever	susceptibility	ISO	RGD:1323218	D	RGD:41789622|PMID:31043530	20210224	RGD			
1311651	Olfml2a	olfactomedin-like 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311651	Olfml2a	olfactomedin-like 2A	gene	DOID:0060058	lymphoma		ISO	RGD:1323220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311651	Olfml2a	olfactomedin-like 2A	gene	DOID:0080600	COVID-19		ISO	RGD:1323220	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311651	Olfml2a	olfactomedin-like 2A	gene	DOID:1115	sarcoma		ISO	RGD:1323220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311651	Olfml2a	olfactomedin-like 2A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311651	Olfml2a	olfactomedin-like 2A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311651	Olfml2a	olfactomedin-like 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1323220	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311651	Olfml2a	olfactomedin-like 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311651	Olfml2a	olfactomedin-like 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323220	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1311651	Olfml2a	olfactomedin-like 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311652	Slc5a12	solute carrier family 5 member 12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311652	Slc5a12	solute carrier family 5 member 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311652	Slc5a12	solute carrier family 5 member 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1345162	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311652	Slc5a12	solute carrier family 5 member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311652	Slc5a12	solute carrier family 5 member 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311653	Vgll4	vestigial-like family member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311653	Vgll4	vestigial-like family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1323223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311653	Vgll4	vestigial-like family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:11346394|RGD:11347479|RGD:11349237|RGD:11349413|RGD:126728028|RGD:126735089|RGD:126737044|RGD:126737710|RGD:126740947|RGD:126747196|RGD:126748226|RGD:126748242|RGD:126751537|RGD:126753485|RGD:126754241|RGD:126755872|RGD:126760876|RGD:126764072|RGD:126765018|RGD:126767359|RGD:126768148|RGD:126769005|RGD:126769305|RGD:126773539|RGD:126774747|RGD:126913668|RGD:126916173|RGD:126916897|RGD:126916954|RGD:126917823|RGD:126918930|RGD:126919337|RGD:126921912|RGD:127233370|RGD:127238397|RGD:127245650|RGD:127246123|RGD:127251883|RGD:127253537|RGD:127258569|RGD:127262861|RGD:127266782|RGD:127267667|RGD:127268581|RGD:127271403|RGD:127272257|RGD:127275652|RGD:127276422|RGD:127277283|RGD:127277918|RGD:127279433|RGD:127282231|RGD:127282745|RGD:127283141|RGD:127283302|RGD:127292911|RGD:127293456|RGD:127294375|RGD:127298609|RGD:127299309|RGD:127299817|RGD:127302193|RGD:127305161|RGD:127314533|RGD:127315195|RGD:127316498|RGD:127318402|RGD:127323781|RGD:127324653|RGD:127326639|RGD:127327297|RGD:127332035|RGD:127334957|RGD:127335421|RGD:127336650|RGD:12741261|RGD:12836353|RGD:12837120|RGD:12839006|RGD:12841911|RGD:12842336|RGD:12842476|RGD:12844300|RGD:12846731|RGD:12880796|RGD:12882820|RGD:12883067|RGD:12883887|RGD:12885599|RGD:12888890|RGD:12890371|RGD:12890815|RGD:12890843|RGD:12890998|RGD:12891199|RGD:12892034|RGD:12913615|RGD:13470429|RGD:13473171|RGD:13474758|RGD:13488113|RGD:13494370|RGD:13495553|RGD:13501393|RGD:13519923|RGD:13527898|RGD:13528930|RGD:13529657|RGD:13538494|RGD:13605866|RGD:13605867|RGD:13605868|RGD:13605869|RGD:13605870|RGD:13605871|RGD:13605872|RGD:13797295|RGD:13808523|RGD:13811430|RGD:13812286|RGD:13813479|RGD:14691366|RGD:14702869|RGD:14705936|RGD:14706147	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:11346394|RGD:11347479|RGD:11349237|RGD:11349413|RGD:126728028|RGD:126735089|RGD:126737044|RGD:126737710|RGD:126740947|RGD:126747196|RGD:126748226|RGD:126748242|RGD:126751537|RGD:126753485|RGD:126754241|RGD:126755872|RGD:126760876|RGD:126764072|RGD:126765018|RGD:126767359|RGD:126768148|RGD:126769005|RGD:126769305|RGD:126773539|RGD:126774747|RGD:126913668|RGD:126916173|RGD:126916897|RGD:126916954|RGD:126917823|RGD:126918930|RGD:126919337|RGD:126921912|RGD:127233370|RGD:127238397|RGD:127245650|RGD:127246123|RGD:127251883|RGD:127253537|RGD:127258569|RGD:127262861|RGD:127266782|RGD:127267667|RGD:127268581|RGD:127271403|RGD:127272257|RGD:127275652|RGD:127276422|RGD:127277283|RGD:127277918|RGD:127279433|RGD:127282231|RGD:127282745|RGD:127283141|RGD:127283302|RGD:127292911|RGD:127293456|RGD:127294375|RGD:127298609|RGD:127299309|RGD:127299817|RGD:127302193|RGD:127305161|RGD:127314533|RGD:127315195|RGD:127316498|RGD:127318402|RGD:127323781|RGD:127324653|RGD:127326639|RGD:127327297|RGD:127332035|RGD:127334957|RGD:127335421|RGD:127336650|RGD:12741261|RGD:12836353|RGD:12837120|RGD:12839006|RGD:12841911|RGD:12842336|RGD:12842476|RGD:12844300|RGD:12846731|RGD:12880796|RGD:12882820|RGD:12883067|RGD:12883887|RGD:12885599|RGD:12888890|RGD:12890371|RGD:12890815|RGD:12890843|RGD:12890998|RGD:12891199|RGD:12892034|RGD:12913615|RGD:13470429|RGD:13474758|RGD:13488113|RGD:13494370|RGD:13495553|RGD:13501393|RGD:13519923|RGD:13527898|RGD:13528930|RGD:13529657|RGD:13538494|RGD:13605866|RGD:13605867|RGD:13605868|RGD:13605869|RGD:13605870|RGD:13605871|RGD:13605872|RGD:13797295|RGD:13808523|RGD:13811430|RGD:13812286|RGD:13813479|RGD:14691366|RGD:14702869|RGD:14705936|RGD:14706147|RGD:14712555	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:14712555|RGD:14721250|RGD:14728459|RGD:14731302|RGD:14743746|RGD:150409896|RGD:150533930|RGD:15105267|RGD:15105657|RGD:15107782|RGD:15116581|RGD:15119704|RGD:15124549|RGD:15130463|RGD:15132061|RGD:15136997|RGD:15137589|RGD:15138651|RGD:15157081|RGD:151713422|RGD:151723704|RGD:151724649|RGD:151733618|RGD:15174039|RGD:151745714|RGD:151748478|RGD:151751647|RGD:151753327|RGD:151757455|RGD:151757979|RGD:151758719|RGD:15176688|RGD:151769521|RGD:151772243|RGD:151774387|RGD:151782158|RGD:151795093|RGD:151796281|RGD:151797054|RGD:151799677|RGD:151800661|RGD:151804301|RGD:151804627|RGD:151805445|RGD:151811769|RGD:151812531|RGD:151817366|RGD:151821173|RGD:151823285|RGD:151830409|RGD:151836019|RGD:151836745|RGD:151837109|RGD:151845901|RGD:151853779|RGD:151854252|RGD:151856537|RGD:151856966|RGD:151861255|RGD:151862952|RGD:151865163|RGD:151872713|RGD:151889144|RGD:151889640|RGD:151890890|RGD:15194268|RGD:15194390|RGD:15195861|RGD:15200610|RGD:152026978|RGD:152033988|RGD:152035125|RGD:152035260|RGD:152038875|RGD:152041040|RGD:152043208|RGD:152047720|RGD:152050269|RGD:152050475|RGD:152053995|RGD:152057659|RGD:152057790|RGD:152059484|RGD:152075738|RGD:152082086|RGD:152086419|RGD:152086907|RGD:152087997|RGD:152088874|RGD:152094078|RGD:152097117|RGD:152101804|RGD:152104703|RGD:152110065|RGD:152113149|RGD:152115513|RGD:152115569|RGD:152116512|RGD:152117932|RGD:152122046|RGD:152122457|RGD:152122799|RGD:152123450|RGD:152123703|RGD:152124380|RGD:152125316|RGD:152126997|RGD:152133337|RGD:152137719|RGD:152141917|RGD:152142270|RGD:152143507|RGD:152145122|RGD:152147049|RGD:152148758|RGD:152149288|RGD:152152420|RGD:152156235|RGD:152158732|RGD:152159429|RGD:152159805|RGD:152159967|RGD:152170961	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:14721250|RGD:14728459|RGD:14731302|RGD:14743746|RGD:150409896|RGD:150533930|RGD:15105267|RGD:15105657|RGD:15107782|RGD:15116581|RGD:15119704|RGD:15124549|RGD:15130463|RGD:15132061|RGD:15136997|RGD:15137589|RGD:15138651|RGD:15157081|RGD:151713422|RGD:151723704|RGD:151724649|RGD:151733618|RGD:15174039|RGD:151745714|RGD:151748478|RGD:151751647|RGD:151753327|RGD:151757455|RGD:151757979|RGD:151758719|RGD:15176688|RGD:151769521|RGD:151772243|RGD:151774387|RGD:151782158|RGD:151795093|RGD:151796281|RGD:151797054|RGD:151799677|RGD:151800661|RGD:151804301|RGD:151804627|RGD:151805445|RGD:151811769|RGD:151812531|RGD:151817366|RGD:151821173|RGD:151823285|RGD:151830409|RGD:151836019|RGD:151836745|RGD:151837109|RGD:151845901|RGD:151853779|RGD:151854252|RGD:151856537|RGD:151856966|RGD:151861255|RGD:151862952|RGD:151865163|RGD:151872713|RGD:151889144|RGD:151889640|RGD:151890890|RGD:15194268|RGD:15194390|RGD:15195861|RGD:15200610|RGD:152026978|RGD:152033988|RGD:152035125|RGD:152035260|RGD:152038875|RGD:152041040|RGD:152043208|RGD:152047720|RGD:152050269|RGD:152050475|RGD:152053995|RGD:152057659|RGD:152057790|RGD:152059484|RGD:152075738|RGD:152082086|RGD:152086419|RGD:152086907|RGD:152087997|RGD:152088874|RGD:152094078|RGD:152097117|RGD:152101804|RGD:152104703|RGD:152110065|RGD:152113149|RGD:152115513|RGD:152115569|RGD:152116512|RGD:152117932|RGD:152122046|RGD:152122457|RGD:152122799|RGD:152123450|RGD:152123703|RGD:152124380|RGD:152125316|RGD:152126997|RGD:152133337|RGD:152137719|RGD:152141917|RGD:152142270|RGD:152143507|RGD:152145122|RGD:152147049|RGD:152148758|RGD:152149288|RGD:152152420|RGD:152156235|RGD:152158732|RGD:152159429|RGD:152159805|RGD:152159967|RGD:152170961|RGD:152175999	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:152175999|RGD:152176427|RGD:153002530|RGD:155689800|RGD:155705445|RGD:155706794|RGD:155721355|RGD:155742325|RGD:155749055|RGD:155904587|RGD:155928557|RGD:155937438|RGD:155947378|RGD:155950882|RGD:155958320|RGD:155964988|RGD:155967986|RGD:155982050|RGD:155996255|RGD:156008542|RGD:156016331|RGD:156026702|RGD:156026948|RGD:156035025|RGD:156041509|RGD:156046443|RGD:156046674|RGD:156049046|RGD:156052197|RGD:156074101|RGD:156077388|RGD:156096507|RGD:156115691|RGD:156116773|RGD:156122682|RGD:156125026|RGD:156145308|RGD:156152395|RGD:156155655|RGD:156161815|RGD:156182077|RGD:156187878|RGD:156194757|RGD:156197205|RGD:156197279|RGD:156207568|RGD:156259739|RGD:156265213|RGD:156272397|RGD:156274898|RGD:156280288|RGD:156285008|RGD:156293414|RGD:156294983|RGD:156297813|RGD:156315560|RGD:156316703|RGD:156330206|RGD:156332175|RGD:156343607|RGD:156350316|RGD:156351689|RGD:156359400|RGD:156363736|RGD:156396931|RGD:156405714|RGD:156409573|RGD:156411107|RGD:156415069|RGD:156419401|RGD:156436132|RGD:156439209|RGD:156441481|RGD:156441484|RGD:156445095|RGD:156445411|RGD:26886955|RGD:26895536|RGD:26905952|RGD:26913173|RGD:26917036|RGD:26922167|RGD:34891285|RGD:34896629|RGD:34896633|RGD:38457167|RGD:38470724|RGD:38473071|RGD:38475491|RGD:38475724|RGD:38477031|RGD:38478725|RGD:38480299|RGD:38480442|RGD:38481252|RGD:38485038|RGD:38485103|RGD:38486161|RGD:38488591|RGD:38489881|RGD:38490571|RGD:38492752|RGD:38493267|RGD:38493339|RGD:402484831|RGD:402486229|RGD:402486375|RGD:402488381|RGD:402490650|RGD:402490931|RGD:402490971|RGD:402491304|RGD:402494219|RGD:402496660|RGD:402496845|RGD:402497112|RGD:402497335|RGD:402497975|RGD:402498221|RGD:402498350|RGD:402499217|RGD:402499377|RGD:402499551	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:152176427|RGD:153002530|RGD:155689800|RGD:155705445|RGD:155706794|RGD:155721355|RGD:155742325|RGD:155749055|RGD:155904587|RGD:155928557|RGD:155937438|RGD:155947378|RGD:155950882|RGD:155958320|RGD:155964988|RGD:155967986|RGD:155982050|RGD:155996255|RGD:156008542|RGD:156016331|RGD:156026702|RGD:156026948|RGD:156035025|RGD:156041509|RGD:156046443|RGD:156046674|RGD:156049046|RGD:156052197|RGD:156074101|RGD:156077388|RGD:156096507|RGD:156115691|RGD:156116773|RGD:156122682|RGD:156125026|RGD:156145308|RGD:156152395|RGD:156155655|RGD:156161815|RGD:156182077|RGD:156187878|RGD:156194757|RGD:156197205|RGD:156197279|RGD:156207568|RGD:156259739|RGD:156265213|RGD:156272397|RGD:156274898|RGD:156280288|RGD:156285008|RGD:156293414|RGD:156294983|RGD:156297813|RGD:156315560|RGD:156316703|RGD:156330206|RGD:156332175|RGD:156343607|RGD:156350316|RGD:156351689|RGD:156359400|RGD:156363736|RGD:156396931|RGD:156405714|RGD:156409573|RGD:156411107|RGD:156415069|RGD:156419401|RGD:156436132|RGD:156439209|RGD:156441481|RGD:156441484|RGD:156445095|RGD:156445411|RGD:26886955|RGD:26895536|RGD:26905952|RGD:26913173|RGD:26917036|RGD:26922167|RGD:34891285|RGD:34896629|RGD:34896633|RGD:38457167|RGD:38470724|RGD:38473071|RGD:38475491|RGD:38475724|RGD:38477031|RGD:38478725|RGD:38480299|RGD:38480442|RGD:38481252|RGD:38485038|RGD:38485103|RGD:38486161|RGD:38488591|RGD:38489881|RGD:38490571|RGD:38492752|RGD:38493267|RGD:38493339|RGD:402484831|RGD:402486229|RGD:402486375|RGD:402488381|RGD:402490650|RGD:402490931|RGD:402490971|RGD:402491304|RGD:402494219|RGD:402496660|RGD:402496845|RGD:402497112|RGD:402497335|RGD:402497975|RGD:402498221|RGD:402498350|RGD:402499217|RGD:402499377|RGD:402499551|RGD:402499794	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:402499794|RGD:402501104|RGD:402501147|RGD:402501751|RGD:402503186|RGD:402503591|RGD:405000808|RGD:405003483|RGD:405004453|RGD:405004725|RGD:405007991|RGD:405008048|RGD:405009272|RGD:405010035|RGD:405010631|RGD:405010972|RGD:405012219|RGD:405012956|RGD:405013631|RGD:405015602|RGD:405015639|RGD:405016332|RGD:405016735|RGD:405018047|RGD:405020319|RGD:405021229|RGD:405021490|RGD:405026268|RGD:405029623|RGD:405031586|RGD:405143425|RGD:405145049|RGD:405160217|RGD:405181744|RGD:405221846|RGD:405249485|RGD:405253520|RGD:405875190|RGD:40813850|RGD:40903250|RGD:9586841|RGD:9832737|RGD:9832739|RGD:9832740|RGD:9832742	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:402501104|RGD:402501147|RGD:402501751|RGD:402503186|RGD:402503591|RGD:405000808|RGD:405003483|RGD:405004453|RGD:405004725|RGD:405007991|RGD:405008048|RGD:405009272|RGD:405010035|RGD:405010631|RGD:405010972|RGD:405012219|RGD:405012956|RGD:405013631|RGD:405015602|RGD:405015639|RGD:405016332|RGD:405016735|RGD:405018047|RGD:405020319|RGD:405021229|RGD:405021490|RGD:405026268|RGD:405029623|RGD:405031586|RGD:405143425|RGD:405145049|RGD:405160217|RGD:405181744|RGD:405221846|RGD:405249485|RGD:405253520|RGD:405875190|RGD:40813850|RGD:40903250|RGD:9586841|RGD:9832737|RGD:9832739|RGD:9832740|RGD:9832742	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:8563224	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22683711|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31775759|PMID:33372952|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:8569126	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:16170316|PMID:16372351|PMID:16443854|PMID:16835863|PMID:17601930|PMID:18039947|PMID:18042262|PMID:19382114|PMID:21850009|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28027064|PMID:28492532|PMID:31394527
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:8569127	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:12835555|PMID:20937837|PMID:22499344|PMID:22683711|PMID:23096712|PMID:23884457|PMID:24006476|PMID:24129065|PMID:24390138|PMID:25741868|PMID:27444071|PMID:30191474|PMID:31775759|PMID:33027564
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:8599073	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: FCS syndrome	PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0080690	RASopathy		ISO	RGD:1604547	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25914166|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26916728|PMID:27102959|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0080690	RASopathy		ISO	RGD:1604547	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0080690	RASopathy		ISO	RGD:1604547	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:10716188|PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20301680|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:2674130|PMID:26916728|PMID:27102959|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:3004741|PMID:31222966|PMID:31394527|PMID:31775759|PMID:3283542|PMID:3304147|PMID:33372952|PMID:34008892|PMID:6287572|PMID:6287573|PMID:6288698
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0080690	RASopathy		ISO	RGD:1604547	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:10716188|PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20301680|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26580448|PMID:2674130|PMID:26916728|PMID:27102959|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:3004741|PMID:31222966|PMID:31394527|PMID:31775759|PMID:3283542|PMID:3304147|PMID:33372952|PMID:34008892|PMID:6287572|PMID:6287573|PMID:6288698
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0111162	epidermal nevus		ISO	RGD:1604547	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous	PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:33027564|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0111359	large congenital melanocytic nevus		ISO	RGD:1604547	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus | ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC	PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:32165824
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0111854	primary ciliary dyskinesia 39		ISO	RGD:1604547	D	RGD:7240710	20190315	OMIM			
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0111854	primary ciliary dyskinesia 39		ISO	RGD:1604547	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 | ClinVar Annotator: match by term: LRRC56-related condition	PMID:25741868|PMID:28492532|PMID:30388400
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0111854	primary ciliary dyskinesia 39		ISO	RGD:1604547	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 39 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 | ClinVar Annotator: match by term: LRRC56-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30388400|PMID:9536098
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:0111854	primary ciliary dyskinesia 39		ISS	RGD:1323225	D	RGD:13592920	20260122	MouseDO		OMIM:618254	
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604547	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Urinary bladder cancer	PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20301680|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31222966|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:1107	esophageal carcinoma		ISO	RGD:1604547	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma	PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:12849	autistic disorder		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:1909	melanoma		ISO	RGD:1604547	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:1909	melanoma		ISO	RGD:1604547	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:1909	melanoma		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:1969	cerebral palsy		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:3490	Noonan syndrome		ISO	RGD:1604547	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19669404|PMID:20301680|PMID:20660566|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22683711|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26580448|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31222966|PMID:31775759|PMID:33372952|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:4362	cervical cancer		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:4465	papillary renal cell carcinoma		ISO	RGD:1604547	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic	PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604547	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604547	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604547	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604547	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604547	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604547	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604547	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604547	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20301680|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:8923	skin melanoma		ISO	RGD:1604547	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:8923	skin melanoma		ISO	RGD:1604547	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:8923	skin melanoma		ISO	RGD:1604547	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:8923	skin melanoma		ISO	RGD:1604547	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:8923	skin melanoma		ISO	RGD:1604547	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9004538	Hearing Loss		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604547	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1604547	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604547	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Acute myelogenous leukemia	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604547	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604547	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604547	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604547	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604547	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604547	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20301680|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9538	multiple myeloma		ISO	RGD:1604547	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9538	multiple myeloma		ISO	RGD:1604547	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9538	multiple myeloma		ISO	RGD:1604547	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Myelomatosis	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9538	multiple myeloma		ISO	RGD:1604547	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Myelomatosis	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9538	multiple myeloma		ISO	RGD:1604547	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Myelomatosis	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9538	multiple myeloma		ISO	RGD:1604547	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
1311654	Lrrc56	leucine rich repeat containing 56	gene	DOID:9538	multiple myeloma		ISO	RGD:1604547	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Myelomatosis	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20301680|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
1311656	Best1	bestrophin 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1323228	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868
1311656	Best1	bestrophin 1	gene	DOID:0050661	vitelliform macular dystrophy		ISO	RGD:1323228	D	RGD:11554173	20190305	CTD		CTD Direct Evidence: marker/mechanism	
1311656	Best1	bestrophin 1	gene	DOID:0050661	vitelliform macular dystrophy		ISO	RGD:1323228	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET | ClinVar Annotator: match by term: Vitelliform dystrophy	PMID:10737974|PMID:10798642|PMID:10854112|PMID:21269699|PMID:21825197|PMID:21878505|PMID:23213274|PMID:25082885|PMID:25741868|PMID:26201355|PMID:28492532|PMID:29555955|PMID:29668979
1311656	Best1	bestrophin 1	gene	DOID:0050661	vitelliform macular dystrophy		ISS	RGD:1323229	D	RGD:13592920	20230718	MouseDO		OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152	
1311656	Best1	bestrophin 1	gene	DOID:0050662	bestrophinopathy		ISO	RGD:1323228	D	RGD:7240710	20130221	OMIM			
1311656	Best1	bestrophin 1	gene	DOID:0050662	bestrophinopathy		ISO	RGD:1323228	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy | ClinVar Annotator: match by term: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	PMID:10798642|PMID:10854112|PMID:16754206|PMID:18179881|PMID:19372599|PMID:20057343|PMID:21269699|PMID:21273940|PMID:21330666|PMID:21738390|PMID:21809908|PMID:21825197|PMID:21878505|PMID:23213274|PMID:23290749|PMID:24560797|PMID:25082885|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26201355|PMID:26333019|PMID:27163236|PMID:27519691|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29068140|PMID:29215532|PMID:29555955|PMID:29668979|PMID:30718709|PMID:31429209|PMID:31455904|PMID:31766397|PMID:32141364|PMID:32278767|PMID:32531858|PMID:33302512|PMID:33369172|PMID:33546218|PMID:34015078|PMID:34327816|PMID:3597344|PMID:36378562
1311656	Best1	bestrophin 1	gene	DOID:0050662	bestrophinopathy		ISS	RGD:1323229	D	RGD:13592920	20230718	MouseDO		OMIM:611809	
1311656	Best1	bestrophin 1	gene	DOID:0050817	Stargardt disease		ISO	RGD:1323228	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Stargardt disease	PMID:10854112|PMID:16754206|PMID:18179881|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:23290749|PMID:24560797|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29507198|PMID:29555955|PMID:29668979|PMID:30718709|PMID:31429209|PMID:31455904|PMID:31766397|PMID:32207364|PMID:32531858|PMID:33302512|PMID:33369172|PMID:33546218|PMID:34015078|PMID:34327816
1311656	Best1	bestrophin 1	gene	DOID:0050817	Stargardt disease		ISO	RGD:1323228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Stargardt disease	PMID:10854112|PMID:16754206|PMID:18179881|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:23290749|PMID:24560797|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29507198|PMID:29555955|PMID:29668979|PMID:30718709|PMID:31429209|PMID:31455904|PMID:31766397|PMID:32531858|PMID:33302512|PMID:33369172|PMID:33546218|PMID:34015078|PMID:34327816|PMID:36450205
1311656	Best1	bestrophin 1	gene	DOID:0061241	Stargardt disease 1		ISO	RGD:1323228	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Fundus flavimaculatus	PMID:10854112|PMID:16754206|PMID:18179881|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:23290749|PMID:24560797|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29555955|PMID:29668979|PMID:30718709|PMID:31429209|PMID:31455904|PMID:31766397|PMID:32207364|PMID:32531858|PMID:33302512|PMID:33369172|PMID:33546218|PMID:34015078|PMID:34327816
1311656	Best1	bestrophin 1	gene	DOID:0061241	Stargardt disease 1		ISO	RGD:1323228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fundus flavimaculatus	PMID:10854112|PMID:16754206|PMID:18179881|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:23290749|PMID:24560797|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29555955|PMID:29668979|PMID:30718709|PMID:31429209|PMID:31455904|PMID:31766397|PMID:32531858|PMID:33302512|PMID:33369172|PMID:33546218|PMID:34015078|PMID:34327816
1311656	Best1	bestrophin 1	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:1323228	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 40	
1311656	Best1	bestrophin 1	gene	DOID:0110396	retinitis pigmentosa 50		ISO	RGD:1323228	D	RGD:7240710	20130425	OMIM			
1311656	Best1	bestrophin 1	gene	DOID:0110396	retinitis pigmentosa 50		ISO	RGD:1323228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 50 | ClinVar Annotator: match by term: Retinitis pigmentosa, concentric	PMID:10798642|PMID:19853238|PMID:21269699|PMID:21878505|PMID:23213274|PMID:25082885|PMID:25741868|PMID:26201355|PMID:26716959|PMID:28492532
1311656	Best1	bestrophin 1	gene	DOID:0111011	cone-rod dystrophy 6		ISO	RGD:1323228	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 6	PMID:28492532
1311656	Best1	bestrophin 1	gene	DOID:0111569	autosomal dominant vitreoretinochoroidopathy		ISO	RGD:1323228	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311656	Best1	bestrophin 1	gene	DOID:0111569	autosomal dominant vitreoretinochoroidopathy		ISO	RGD:1323228	D	RGD:7240710	20130221	OMIM			
1311656	Best1	bestrophin 1	gene	DOID:0111569	autosomal dominant vitreoretinochoroidopathy		ISO	RGD:1323228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | ClinVar Annotator: match by term: VITREORETINOCHOROIDOPATHY | ClinVar Annotator: match by term: VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS	PMID:10737974|PMID:10798642|PMID:10854112|PMID:15452077|PMID:17065513|PMID:18289629|PMID:18611979|PMID:19853238|PMID:21269699|PMID:21436265|PMID:21878505|PMID:23213274|PMID:24560797|PMID:25082885|PMID:25741868|PMID:25999674|PMID:26201355|PMID:28225368|PMID:28492532|PMID:28559085|PMID:29215532|PMID:29555955|PMID:29844330|PMID:30718709|PMID:31263784|PMID:31570112|PMID:31589614|PMID:32239196|PMID:32531858|PMID:33546218|PMID:34061021|PMID:34327816|PMID:35119454|PMID:36460718|PMID:36512348
1311656	Best1	bestrophin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1323228	D	RGD:8547535|PMID:23701314	20140217	RGD			
1311656	Best1	bestrophin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1323228	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10453731|PMID:10798642|PMID:10854112|PMID:11713080|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:17898294|PMID:18179881|PMID:19853238|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:24560797|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30718709|PMID:33546218|PMID:9536098
1311656	Best1	bestrophin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1323228	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10798642|PMID:10854112|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:19853238|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29063836|PMID:29068140|PMID:30718709|PMID:33546218|PMID:9536098
1311656	Best1	bestrophin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1323228	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10798642|PMID:10854112|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:19853238|PMID:20057343|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:24560797|PMID:25324289|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26310487|PMID:26333019|PMID:27071392|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30593719|PMID:30718709|PMID:33039401|PMID:33302512|PMID:33546218|PMID:9536098
1311656	Best1	bestrophin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1323228	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10798642|PMID:10854112|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:19853238|PMID:20057343|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:24560797|PMID:25324289|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26310487|PMID:26333019|PMID:27071392|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30593719|PMID:30718709|PMID:33039401|PMID:33302512|PMID:33546218|PMID:36909829|PMID:9536098
1311656	Best1	bestrophin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1323228	D	RGD:8554872	20240618	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10798642|PMID:14615048|PMID:17576681|PMID:19853238|PMID:20057343|PMID:24560797|PMID:25324289|PMID:25489231|PMID:25741868|PMID:26310487|PMID:27071392|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29215532|PMID:29847639|PMID:30593719|PMID:30718709|PMID:33039401|PMID:33302512|PMID:34012682|PMID:36909829|PMID:9536098
1311656	Best1	bestrophin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1323228	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10798642|PMID:14615048|PMID:17576681|PMID:19853238|PMID:20057343|PMID:24560797|PMID:25324289|PMID:25489231|PMID:25741868|PMID:26310487|PMID:27071392|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29215532|PMID:29847639|PMID:30593719|PMID:30718709|PMID:32581362|PMID:33039401|PMID:33302512|PMID:34012682|PMID:36909829|PMID:9536098
1311656	Best1	bestrophin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1323228	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10798642|PMID:14615048|PMID:17576681|PMID:19853238|PMID:20057343|PMID:24560797|PMID:25324289|PMID:25489231|PMID:25741868|PMID:25999674|PMID:26310487|PMID:27071392|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29215532|PMID:29847639|PMID:30593719|PMID:30718709|PMID:32581362|PMID:33039401|PMID:33302512|PMID:34012682|PMID:36909829|PMID:9536098
1311656	Best1	bestrophin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1323228	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:25741868|PMID:28492532|PMID:28687848|PMID:29215532
1311656	Best1	bestrophin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311656	Best1	bestrophin 1	gene	DOID:4448	macular degeneration		ISO	RGD:1323228	D	RGD:1599738|PMID:9662395	20070213	RGD		Best macular dystrophy, OMIM:153700	
1311656	Best1	bestrophin 1	gene	DOID:4448	macular degeneration		ISO	RGD:1323228	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:10331951|PMID:10394929|PMID:10798642|PMID:11241846|PMID:12565808|PMID:20381869|PMID:21273940|PMID:22448417|PMID:23880862|PMID:25489231|PMID:25741868|PMID:27031371|PMID:27193166|PMID:28481155|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29555955|PMID:29781975|PMID:30498755|PMID:30718709|PMID:30880907|PMID:31456290|PMID:31519547|PMID:31570112|PMID:31725702|PMID:31836750|PMID:32239196|PMID:33090715|PMID:33512609|PMID:33546218|PMID:34012682|PMID:35311463|PMID:35973442|PMID:36460718|PMID:36512348
1311656	Best1	bestrophin 1	gene	DOID:4448	macular degeneration		ISO	RGD:1323228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:10737974|PMID:10798642|PMID:10854112|PMID:16754206|PMID:17065513|PMID:18179881|PMID:18289629|PMID:21273940|PMID:21330666|PMID:21436265|PMID:21809908|PMID:21825197|PMID:23213274|PMID:23290749|PMID:24560797|PMID:25082885|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:28225368|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29555955|PMID:29668979|PMID:30718709|PMID:31429209|PMID:31455904|PMID:31570112|PMID:31589614|PMID:31766397|PMID:32239196|PMID:32531858|PMID:33302512|PMID:33369172|PMID:33546218|PMID:34015078|PMID:34327816|PMID:35119454|PMID:36460718|PMID:36512348
1311656	Best1	bestrophin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311656	Best1	bestrophin 1	gene	DOID:5679	retinal disease		ISO	RGD:1323228	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:21273940|PMID:25545482|PMID:28492532|PMID:29063836
1311656	Best1	bestrophin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311656	Best1	bestrophin 1	gene	DOID:630	genetic disease		ISO	RGD:1323228	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311656	Best1	bestrophin 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1323228	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10331951|PMID:10394929|PMID:10453731|PMID:10617923|PMID:10737974|PMID:10798642|PMID:10854112|PMID:11241846|PMID:11713080|PMID:11756879|PMID:11904445|PMID:12187431|PMID:12324875|PMID:12565808|PMID:13129869|PMID:14517959|PMID:15452077|PMID:15452084|PMID:16612637|PMID:16754206|PMID:16769844|PMID:17065513|PMID:17110374|PMID:17287362|PMID:17477921|PMID:17576681|PMID:17591911|PMID:17698758|PMID:18179881|PMID:18289629|PMID:18844018|PMID:19372599|PMID:19375515|PMID:19597114|PMID:19853238|PMID:20057343|PMID:20057903|PMID:20375334|PMID:20381869|PMID:21072067|PMID:21109774|PMID:21203346|PMID:21269699|PMID:21273940|PMID:21330666|PMID:21412020|PMID:21436265|PMID:21473666|PMID:21809908|PMID:21825197|PMID:218785|PMID:21878505|PMID:21921978|PMID:22025579|PMID:23096145|PMID:23213274|PMID:23290749|PMID:23825107|PMID:2388086|PMID:23880862|PMID:24560797|PMID:2508288|PMID:25082885|PMID:25174897|PMID:25412400|PMID:25474345|PMID:25489231|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26200502|PMID:26201355|PMID:26333019|PMID:26771239|PMID:27031371|PMID:27078032|PMID:27163236|PMID:27193166|PMID:27519691|PMID:27668499|PMID:27775230|PMID:28056057|PMID:28127548|PMID:28225368|PMID:28492532|PMID:2855908|PMID:28559085|PMID:2868784|PMID:28687848|PMID:29068140|PMID:29115605|PMID:29215532|PMID:29507198|PMID:29555955|PMID:29668979|PMID:2978197|PMID:29781975|PMID:29847639|PMID:29976937|PMID:30029497|PMID:30215852|PMID:30457648|PMID:30498755|PMID:30593719|PMID:30718709|PMID:30781664|PMID:31144483|PMID:31254423|PMID:31429209|PMID:31455904|PMID:3145629|PMID:31456290|PMID:31519547|PMID:3157011|PMID:31570112|PMID:31589614|PMID:31766397|PMID:31814694|PMID:31836750|PMID:31963381|PMID:3196484|PMID:31964843|PMID:32111077|PMID:32141364|PMID:32147488|PMID:32239196|PMID:32278767|PMID:32321300|PMID:32507900|PMID:3253185|PMID:32531858|PMID:32581362|PMID:33039401|PMID:33090715|PMID:3330251|PMID:33302512|PMID:33369172|PMID:33546218|PMID:33879512|PMID:33946315|PMID:34001763|PMID:3401268|PMID:34012682|PMID:34015078|PMID:34240658|PMID:34253754|PMID:34327816|PMID:34426522|PMID:35119454|PMID:35260635|PMID:35311463|PMID:35456422|PMID:35656873|PMID:3597344|PMID:35973442|PMID:3628446|PMID:36284460|PMID:36460718|PMID:36512348|PMID:36527006|PMID:36672815|PMID:36909829|PMID:9536098|PMID:9662395|PMID:9700209
1311656	Best1	bestrophin 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1323228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:10737974|PMID:10798642|PMID:10854112|PMID:17065513|PMID:18289629|PMID:21436265|PMID:23213274|PMID:24560797|PMID:25082885|PMID:25741868|PMID:28225368|PMID:28492532|PMID:28559085|PMID:29555955|PMID:30718709|PMID:31570112|PMID:31589614|PMID:32239196|PMID:32531858|PMID:33546218|PMID:34327816|PMID:35119454|PMID:36460718|PMID:36512348
1311656	Best1	bestrophin 1	gene	DOID:9002631	Vitelliform Macular Dystrophy 1		ISO	RGD:1323228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Vitelliform macular dystrophy 1	PMID:10737974|PMID:10798642|PMID:10854112|PMID:17065513|PMID:18289629|PMID:21436265|PMID:23213274|PMID:24560797|PMID:25082885|PMID:25741868|PMID:28225368|PMID:28492532|PMID:28559085|PMID:29555955|PMID:30718709|PMID:31570112|PMID:31589614|PMID:32239196|PMID:32531858|PMID:33546218|PMID:34327816|PMID:35119454|PMID:36460718|PMID:36512348
1311656	Best1	bestrophin 1	gene	DOID:9002891	Vitelliform Macular Dystrophy 2		ISO	RGD:1323228	D	RGD:7240710	20180725	OMIM			
1311656	Best1	bestrophin 1	gene	DOID:9002891	Vitelliform Macular Dystrophy 2		ISO	RGD:1323228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Best Macular Dystrophy | ClinVar Annotator: match by term: Best vitelliform macular dystrophy, multifocal | ClinVar Annotator: match by term: MACULAR DYSTROPHY, VITELLIFORM, 2 | ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 | ClinVar Annotator: match by term: Vitelliform macular dystrophy type 2	PMID:10331951|PMID:10453731|PMID:10737974|PMID:10798642|PMID:10854112|PMID:11241846|PMID:11713080|PMID:11904445|PMID:13129869|PMID:14517959|PMID:16754206|PMID:17065513|PMID:17110374|PMID:17576681|PMID:17898294|PMID:18179881|PMID:18289629|PMID:18703557|PMID:21269699|PMID:21273940|PMID:21330666|PMID:21436265|PMID:21467170|PMID:21738390|PMID:21809908|PMID:21825197|PMID:21878505|PMID:21921978|PMID:22162627|PMID:23213274|PMID:23290749|PMID:24560797|PMID:25082885|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26201355|PMID:26333019|PMID:27078032|PMID:27519691|PMID:28225368|PMID:28492532|PMID:28559085|PMID:28687848|PMID:28791410|PMID:29068140|PMID:29215532|PMID:29555955|PMID:29668979|PMID:29976937|PMID:30498755|PMID:30718709|PMID:30880907|PMID:31429209|PMID:31455904|PMID:31456290|PMID:31519547|PMID:31570112|PMID:31589614|PMID:31766397|PMID:32239196|PMID:32531858|PMID:33302512|PMID:33369172|PMID:33546218|PMID:34012682|PMID:34015078|PMID:34253754|PMID:34327816|PMID:35119454|PMID:35768830|PMID:35885980|PMID:35973442|PMID:36378562|PMID:36460718|PMID:36512348|PMID:9536098
1311656	Best1	bestrophin 1	gene	DOID:9003137	Photophobia		ISO	RGD:1323228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:10737974|PMID:10798642|PMID:10854112|PMID:17065513|PMID:18289629|PMID:21436265|PMID:23213274|PMID:24560797|PMID:25082885|PMID:25741868|PMID:28225368|PMID:28492532|PMID:28559085|PMID:29555955|PMID:30718709|PMID:31570112|PMID:31589614|PMID:32239196|PMID:32531858|PMID:33546218|PMID:34327816|PMID:35119454|PMID:36460718|PMID:36512348
1311656	Best1	bestrophin 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10737974|PMID:10798642|PMID:10854112|PMID:17065513|PMID:18289629|PMID:21436265|PMID:23213274|PMID:24560797|PMID:25082885|PMID:25741868|PMID:28225368|PMID:28492532|PMID:28559085|PMID:29555955|PMID:30718709|PMID:31570112|PMID:31589614|PMID:32239196|PMID:32531858|PMID:33546218|PMID:34327816|PMID:35119454|PMID:36460718|PMID:36512348
1311656	Best1	bestrophin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311656	Best1	bestrophin 1	gene	DOID:9834	hyperopia		ISO	RGD:1323228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:10737974|PMID:10798642|PMID:10854112|PMID:17065513|PMID:18289629|PMID:21436265|PMID:23213274|PMID:24560797|PMID:25082885|PMID:25741868|PMID:28225368|PMID:28492532|PMID:28559085|PMID:29555955|PMID:30718709|PMID:31570112|PMID:31589614|PMID:32239196|PMID:32531858|PMID:33546218|PMID:34327816|PMID:35119454|PMID:36460718|PMID:36512348
1311656	Best1	bestrophin 1	gene	DOID:9970	obesity		ISO	RGD:1323228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:10737974|PMID:10798642|PMID:10854112|PMID:17065513|PMID:18289629|PMID:21436265|PMID:23213274|PMID:24560797|PMID:25082885|PMID:25741868|PMID:28225368|PMID:28492532|PMID:28559085|PMID:29555955|PMID:30718709|PMID:31570112|PMID:31589614|PMID:32239196|PMID:32531858|PMID:33546218|PMID:34327816|PMID:35119454|PMID:36460718|PMID:36512348
1311657	Sap130	Sin3A associated protein 130	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311657	Sap130	Sin3A associated protein 130	gene	DOID:10534	stomach cancer		ISO	RGD:1606502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311657	Sap130	Sin3A associated protein 130	gene	DOID:1115	sarcoma		ISO	RGD:1606502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311657	Sap130	Sin3A associated protein 130	gene	DOID:1682	congenital heart disease		ISS	RGD:1332063	D	RGD:13592920	20180518	MouseDO			
1311657	Sap130	Sin3A associated protein 130	gene	DOID:1909	melanoma		ISO	RGD:1606502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311657	Sap130	Sin3A associated protein 130	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311657	Sap130	Sin3A associated protein 130	gene	DOID:4362	cervical cancer		ISO	RGD:1606502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311657	Sap130	Sin3A associated protein 130	gene	DOID:5041	esophageal cancer		ISO	RGD:1606502	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311657	Sap130	Sin3A associated protein 130	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311657	Sap130	Sin3A associated protein 130	gene	DOID:6039	uveal melanoma		ISO	RGD:1606502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311657	Sap130	Sin3A associated protein 130	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311657	Sap130	Sin3A associated protein 130	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311657	Sap130	Sin3A associated protein 130	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311657	Sap130	Sin3A associated protein 130	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311657	Sap130	Sin3A associated protein 130	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1606502	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28530678
1311657	Sap130	Sin3A associated protein 130	gene	DOID:9955	hypoplastic left heart syndrome		ISS	RGD:1332063	D	RGD:13592920	20230718	MouseDO		OMIM:241550 | OMIM:614435	
1311658	Pdcd1	programmed cell death 1	gene	DOID:0040083	Chlamydia pneumonia		ISO	RGD:1323232	D	RGD:41412180|PMID:26378990	20210219	RGD		mRNA:increased expression:lung	
1311658	Pdcd1	programmed cell death 1	gene	DOID:0040084	Streptococcus pneumonia	treatment	ISO	RGD:1323232	D	RGD:40818422|PMID:25624454	20201120	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311658	Pdcd1	programmed cell death 1	gene	DOID:0060081	triple-negative breast cancer	treatment	ISO	RGD:1323232	D	RGD:40818259|PMID:32194569	20201116	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:0061163	infantile onset multisystem autoimmune disease 4		ISO	RGD:1323231	D	RGD:7240710	20250702	OMIM			
1311658	Pdcd1	programmed cell death 1	gene	DOID:0061163	infantile onset multisystem autoimmune disease 4		ISO	RGD:1323231	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autoimmune disease with susceptibility to mycobacterium tuberculosis	
1311658	Pdcd1	programmed cell death 1	gene	DOID:0080159	cryptococcal meningitis	treatment	ISO	RGD:1323231	D	RGD:41412178|PMID:29058791	20210219	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:0080159	cryptococcal meningitis	treatment	ISO	RGD:1323232	D	RGD:41412178|PMID:29058791	20210219	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:0080162	lupus nephritis		ISO	RGD:1323231	D	RGD:7248675|PMID:15934088	20130815	RGD		DNA:polymorphism: :	
1311658	Pdcd1	programmed cell death 1	gene	DOID:0080162	lupus nephritis		ISO	RGD:1323231	D	RGD:7248676|PMID:15352422	20130815	RGD		DNA:polymorphism:intron:6867 C>T (human)	
1311658	Pdcd1	programmed cell death 1	gene	DOID:0080162	lupus nephritis	onset	ISO	RGD:1323232	D	RGD:7248678|PMID:21041733	20130815	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:0081463	recurrent respiratory papillomatosis		ISO	RGD:1323231	D	RGD:40822813|PMID:22322668	20201130	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323231	D	RGD:41410790|PMID:27465786	20210212	RGD		associated with Epstein-Barr Virus Infections	
1311658	Pdcd1	programmed cell death 1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1323231	D	RGD:40818238|PMID:32380498	20201113	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1323231	D	RGD:40886269|PMID:27277012	20201203	RGD		protein:increased expression:Treg cell	
1311658	Pdcd1	programmed cell death 1	gene	DOID:10591	pre-eclampsia	treatment	IEP		D	RGD:40886269|PMID:27277012	20201203	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:11111	hydronephrosis		ISO	RGD:1323232	D	RGD:7248681|PMID:16352741	20130815	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:1115	sarcoma		ISO	RGD:1323231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311658	Pdcd1	programmed cell death 1	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1323231	D	RGD:40400714|PMID:23754510	20201103	RGD		mRNA,protein:increased expression:multiple (human)	
1311658	Pdcd1	programmed cell death 1	gene	DOID:12155	lymphocytic choriomeningitis		ISO	RGD:1323232	D	RGD:41410802|PMID:23230000	20210215	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:12155	lymphocytic choriomeningitis	treatment	ISO	RGD:1323232	D	RGD:40818232|PMID:30726291	20201112	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:12361	Graves' disease		ISO	RGD:1323231	D	RGD:11554173	20210413	CTD		CTD Direct Evidence: marker/mechanism	PMID:33132244
1311658	Pdcd1	programmed cell death 1	gene	DOID:12549	hepatitis A	disease_progression	ISO	RGD:1323231	D	RGD:40818419|PMID:26347518	20201120	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1323231	D	RGD:11056952|PMID:25465101	20201112	RGD		protein:increased expression: CD8 Tcell from nasal wash:	
1311658	Pdcd1	programmed cell death 1	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1323232	D	RGD:11056952|PMID:25465101	20201112	RGD		protein:increased expression:CD4 Tcell, CD8 Tcell from lung:	
1311658	Pdcd1	programmed cell death 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1323232	D	RGD:9589058|PMID:14595408	20141105	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:12930	dilated cardiomyopathy		ISS	RGD:1323232	D	RGD:13592920	20180518	MouseDO			
1311658	Pdcd1	programmed cell death 1	gene	DOID:1324	lung cancer		ISO	RGD:1323231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311658	Pdcd1	programmed cell death 1	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1323231	D	RGD:40822808|PMID:29702526	20201130	RGD		protein:increased expression:serum	
1311658	Pdcd1	programmed cell death 1	gene	DOID:14115	toxic shock syndrome	severity	ISO	RGD:1323231	D	RGD:41410786|PMID:26063974	20210212	RGD		protein:increased expression:lymphocyte, mononcyte	
1311658	Pdcd1	programmed cell death 1	gene	DOID:1679	cystitis		ISO	RGD:1323232	D	RGD:7248677|PMID:22432050	20130815	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:1731	histoplasmosis	treatment	ISO	RGD:1323232	D	RGD:40822806|PMID:18268348	20201130	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:1323231	D	RGD:11052797|PMID:25747035	20201112	RGD		DNA:SNP:3' UTR:rs10204525(human)	
1311658	Pdcd1	programmed cell death 1	gene	DOID:1909	melanoma		ISO	RGD:1323231	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:21802280
1311658	Pdcd1	programmed cell death 1	gene	DOID:1909	melanoma	treatment	ISO	RGD:1323232	D	RGD:40818261|PMID:27760326	20201116	RGD		associated with influenza	
1311658	Pdcd1	programmed cell death 1	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:1323231	D	RGD:40818272|PMID:31770816	20201117	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:1323231	D	RGD:40818414|PMID:28667037	20201120	RGD		DNA:SNPs,halptype: :rs36084323, rs2227981,rs2227982(human)	
1311658	Pdcd1	programmed cell death 1	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:1323231	D	RGD:40818423|PMID:29786123	20201123	RGD		DNA:SNP: :rs2227981(human)	
1311658	Pdcd1	programmed cell death 1	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1323231	D	RGD:40818236|PMID:23869988	20201113	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1323232	D	RGD:41412171|PMID:19781375	20210219	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:2237	hepatitis		ISO	RGD:1323231	D	RGD:40818425|PMID:19739236	20201123	RGD		protein:increased expression: leukocyte	
1311658	Pdcd1	programmed cell death 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1323231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PDCD1-related condition	
1311658	Pdcd1	programmed cell death 1	gene	DOID:2841	asthma	treatment	ISO	RGD:1323232	D	RGD:41412180|PMID:26378990	20210219	RGD		associated with Chlamydia pneumonia	
1311658	Pdcd1	programmed cell death 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1323231	D	RGD:40818418|PMID:23661793	20201120	RGD		protein:increased expression:Tcell, B cell, monocyte	
1311658	Pdcd1	programmed cell death 1	gene	DOID:2957	pulmonary tuberculosis	treatment	ISO	RGD:1323231	D	RGD:40818418|PMID:23661793	20201120	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1323231	D	RGD:617256321|PMID:34517527	20250724	RGD		mRNA:increased expression:lung	
1311658	Pdcd1	programmed cell death 1	gene	DOID:3951	acute myocarditis	severity	ISO	RGD:1323232	D	RGD:40822819|PMID:17434153	20201201	RGD		associated with Coxsackievirus Infections;	
1311658	Pdcd1	programmed cell death 1	gene	DOID:3951	acute myocarditis	treatment	ISO	RGD:1323232	D	RGD:40822819|PMID:17434153	20201201	RGD		associated with Coxsackievirus Infections;	
1311658	Pdcd1	programmed cell death 1	gene	DOID:399	tuberculosis	treatment	ISO	RGD:1323231	D	RGD:41412174|PMID:27865385	20210219	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1323231	D	RGD:7248680|PMID:17363529	20130815	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:4780	anti-basement membrane glomerulonephritis	treatment	IEP		D	RGD:7248671|PMID:21965585	20141105	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1323231	D	RGD:41412179|PMID:30161254	20210219	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311658	Pdcd1	programmed cell death 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311658	Pdcd1	programmed cell death 1	gene	DOID:646	viral encephalitis		ISO	RGD:1323232	D	RGD:40818239|PMID:31105690	20201113	RGD		protein:increased expression: CD8 T celll	
1311658	Pdcd1	programmed cell death 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1323231	D	RGD:40818257|PMID:27034168	20201116	RGD		associated with hepatitis B;DNA:SNP: : +8669 A>G (human)	
1311658	Pdcd1	programmed cell death 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1323231	D	RGD:41410800|PMID:21912640	20210215	RGD		associated with hepatitis B	
1311658	Pdcd1	programmed cell death 1	gene	DOID:820	myocarditis		ISO	RGD:1323232	D	RGD:9589065|PMID:21357717	20141106	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:824	periodontitis		IEP		D	RGD:40886271|PMID:32346701	20201203	RGD		protein:increased expression:periodontium	
1311658	Pdcd1	programmed cell death 1	gene	DOID:8991	cervix uteri carcinoma in situ	severity	ISO	RGD:1323231	D	RGD:40822817|PMID:23521696	20201201	RGD		associated with Papillomavirus Infections; protein:increased expression:T cell	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	IEP		D	RGD:40886268|PMID:29665726	20201203	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:9001228	Fungemia		ISO	RGD:1323232	D	RGD:40818234|PMID:23663657	20201112	RGD		protein:increased expression:CD4 Tcell, CD8 Tcell:	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9001228	Fungemia	treatment	ISO	RGD:1323232	D	RGD:40818234|PMID:23663657	20201112	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:9001953	Pneumovirus Infections	treatment	ISO	RGD:1323232	D	RGD:40822811|PMID:25339663	20201130	RGD		associated with reinfection	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9002433	Schistosomiasis Japonica		ISO	RGD:1323231	D	RGD:40818413|PMID:27792733	20201120	RGD		protein:increased expression:CD4 T cell	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9002433	Schistosomiasis Japonica		ISO	RGD:1323232	D	RGD:40818413|PMID:27792733	20201120	RGD		protein:increased expression:CD4 T cell	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9002433	Schistosomiasis Japonica	severity	ISO	RGD:1323232	D	RGD:40818413|PMID:27792733	20201120	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	susceptibility	ISO	RGD:1323232	D	RGD:40818258|PMID:24648472	20201116	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:9002928	Colonic Neoplasms	treatment	ISO	RGD:1323232	D	RGD:9589070|PMID:19208793	20141106	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:9004118	Experimental Melanoma	treatment	ISO	RGD:1323232	D	RGD:9589070|PMID:19208793	20141106	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1323232	D	RGD:9589060|PMID:17489865	20141105	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1323232	D	RGD:9589063|PMID:17198268	20141105	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:9004283	Transplant Rejection	severity	ISO	RGD:1323231	D	RGD:7248673|PMID:21518556	20130814	RGD		mRNA:increased expression:leukocytes, Mononuclear:	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9004484	Sepsis		ISO	RGD:1323231	D	RGD:40818235|PMID:30595665	20201112	RGD		protein:increased expression:T cell	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9004484	Sepsis		ISO	RGD:1323231	D	RGD:40818424|PMID:29661225	20201123	RGD		protein:increased expression:B cell,CD4T cell	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1323231	D	RGD:40822808|PMID:29702526	20201130	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1323231	D	RGD:41412183|PMID:27156867	20210219	RGD		protein:increased expression:T cell	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1323232	D	RGD:40818273|PMID:19332785	20201117	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1323231	D	RGD:11554173	20211207	CTD		CTD Direct Evidence: marker/mechanism	PMID:34166680
1311658	Pdcd1	programmed cell death 1	gene	DOID:9006262	Cytomegalovirus Infections	susceptibility	ISO	RGD:1323231	D	RGD:40818426|PMID:19581275	20201123	RGD		associated with kidney transplantation; DNA:SNP: :rs11568821(human)	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9006925	Hepatic Echinococcosis		ISO	RGD:1323232	D	RGD:41412175|PMID:25907244	20210219	RGD		mRNA, protein:increased expression:liver	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1323232	D	RGD:40818270|PMID:22797302	20201117	RGD		protein:increased expression:CD8 T cell	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9007730	Burns	treatment	ISO	RGD:1323232	D	RGD:41410788|PMID:29345058	20210212	RGD		associated with Pseudomonas Infections; associated with Staphylococcal Infections	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9008114	Helicobacter Infections	severity	ISO	RGD:1323231	D	RGD:40818417|PMID:21562113	20201120	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1323231	D	RGD:40818262|PMID:20700634	20201116	RGD		DNA:SNP:exon:	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1323231	D	RGD:40818415|PMID:28983583	20201120	RGD		protein:altered expression:serum:	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9008163	Chronic Hepatitis B	disease_progression	ISO	RGD:1323231	D	RGD:40818231|PMID:30016557	20201112	RGD		DNA:SNP:3' UTR:rs10204525(human)	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9008163	Chronic Hepatitis B	no_association	ISO	RGD:1323231	D	RGD:40818233|PMID:25736598	20201112	RGD		DNA:SNPs::+7146 G>A,+7209 C>T(human)	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9008443	Colorectal Neoplasms		IEP		D	RGD:9589083|PMID:24165459	20141106	RGD		protein:increased expression:colonic mucosa, lymphocyte	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323231	D	RGD:7248674|PMID:17228327	20130814	RGD		DNA:polymorphism: : 7,146 G>A (human)	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323231	D	RGD:7248679|PMID:19116915	20130815	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:9074	systemic lupus erythematosus		ISS	RGD:1323232	D	RGD:13592920	20230718	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
1311658	Pdcd1	programmed cell death 1	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1323232	D	RGD:41410789|PMID:26712908	20210212	RGD			
1311658	Pdcd1	programmed cell death 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1323232	D	RGD:7248672|PMID:23219834	20130814	RGD		protein:increased expression:kidney	
1311659	Psma8	proteasome 20S subunit alpha 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311659	Psma8	proteasome 20S subunit alpha 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:0051052	congenital disorder of glycosylation type IIy		ISO	RGD:1323234	D	RGD:7240710	20230125	OMIM			
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:0051052	congenital disorder of glycosylation type IIy		ISO	RGD:1323234	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: CDG IIy | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIy	PMID:25741868|PMID:32395830
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:1059	intellectual disability		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:32395830
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1323234	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:1324	lung cancer		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:1826	epilepsy		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizures	PMID:25741868|PMID:32395830
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:3275	thymoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1323234	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:32395830
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:32395830
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311660	Get4	guided entry of tail-anchored proteins factor 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:28492532
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:0050952	spastic ataxia		ISO	RGD:1347811	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:0050961	spinocerebellar ataxia 11		ISO	RGD:1347811	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:0050961	spinocerebellar ataxia 11		ISO	RGD:1347811	D	RGD:7240710	20130425	OMIM			
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:0050961	spinocerebellar ataxia 11		ISO	RGD:1347811	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia 11 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 11 | ClinVar Annotator: match by term: TTBK2-related condition	PMID:18037885|PMID:19533200|PMID:20301723|PMID:20667868|PMID:22073189|PMID:24808823|PMID:25741868|PMID:26467025|PMID:27573710|PMID:27744525|PMID:28492532|PMID:41422144
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347811	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347811	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1347811	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18037885
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311661	Ttbk2	tau tubulin kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347811	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311662	Fam3b	FAM3 metabolism regulating signaling molecule B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311662	Fam3b	FAM3 metabolism regulating signaling molecule B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311662	Fam3b	FAM3 metabolism regulating signaling molecule B	gene	DOID:10534	stomach cancer		ISO	RGD:1323237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311662	Fam3b	FAM3 metabolism regulating signaling molecule B	gene	DOID:4362	cervical cancer		ISO	RGD:1323237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311662	Fam3b	FAM3 metabolism regulating signaling molecule B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311662	Fam3b	FAM3 metabolism regulating signaling molecule B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311662	Fam3b	FAM3 metabolism regulating signaling molecule B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311662	Fam3b	FAM3 metabolism regulating signaling molecule B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311662	Fam3b	FAM3 metabolism regulating signaling molecule B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311663	Zfp418	zinc finger protein 418	gene	DOID:1909	melanoma		ISO	RGD:1346172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311663	Zfp418	zinc finger protein 418	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311663	Zfp418	zinc finger protein 418	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311663	Zfp418	zinc finger protein 418	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311665	Ankrd50	ankyrin repeat domain 50	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311665	Ankrd50	ankyrin repeat domain 50	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311665	Ankrd50	ankyrin repeat domain 50	gene	DOID:4362	cervical cancer		ISO	RGD:1603620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311665	Ankrd50	ankyrin repeat domain 50	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311665	Ankrd50	ankyrin repeat domain 50	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311666	Tlnrd1	talin rod domain containing 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1323243	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1311667	Nkapl	NFKB activating protein-like	gene	DOID:5419	schizophrenia		ISO	RGD:1323244	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22037552
1311668	F13b	coagulation factor XIII B chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311668	F13b	coagulation factor XIII B chain	gene	DOID:0060903	thrombosis		ISO	RGD:1323246	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Thrombus	PMID:25741868
1311668	F13b	coagulation factor XIII B chain	gene	DOID:2211	factor XIII deficiency		ISO	RGD:1323246	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:2334637
1311668	F13b	coagulation factor XIII B chain	gene	DOID:2211	factor XIII deficiency		ISO	RGD:1323246	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: F13B-related condition | ClinVar Annotator: match by term: Factor XIII deficiency	PMID:22353194|PMID:25044882|PMID:25741868|PMID:28399723|PMID:28492532|PMID:28748566
1311668	F13b	coagulation factor XIII B chain	gene	DOID:630	genetic disease		ISO	RGD:1323246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311668	F13b	coagulation factor XIII B chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311668	F13b	coagulation factor XIII B chain	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1323246	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16241947
1311668	F13b	coagulation factor XIII B chain	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1323246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Venous thrombosis, susceptibility to	PMID:25741868
1311668	F13b	coagulation factor XIII B chain	gene	DOID:9008281	Factor XIII, B Subunit, Deficiency Of		ISO	RGD:1323246	D	RGD:10450738|PMID:20331752	20160120	RGD		DNA:mutations:multiple:	
1311668	F13b	coagulation factor XIII B chain	gene	DOID:9008281	Factor XIII, B Subunit, Deficiency Of		ISO	RGD:1323246	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311668	F13b	coagulation factor XIII B chain	gene	DOID:9008281	Factor XIII, B Subunit, Deficiency Of		ISO	RGD:1323246	D	RGD:7240710	20131030	OMIM			
1311668	F13b	coagulation factor XIII B chain	gene	DOID:9008281	Factor XIII, B Subunit, Deficiency Of		ISO	RGD:1323246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FACTOR XIII, B SUBUNIT, DEFICIENCY OF | ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of	PMID:14695539|PMID:20331752|PMID:25741868|PMID:28492532|PMID:34355501
1311669	Thoc3	THO complex subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311669	Thoc3	THO complex subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311669	Thoc3	THO complex subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1323248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311669	Thoc3	THO complex subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323248	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311669	Thoc3	THO complex subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311669	Thoc3	THO complex subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311669	Thoc3	THO complex subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311670	Vwa3a	von Willebrand factor A domain containing 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1641961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311670	Vwa3a	von Willebrand factor A domain containing 3A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1641961	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
1311670	Vwa3a	von Willebrand factor A domain containing 3A	gene	DOID:1324	lung cancer		ISO	RGD:1641961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311670	Vwa3a	von Willebrand factor A domain containing 3A	gene	DOID:1909	melanoma		ISO	RGD:1641961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311670	Vwa3a	von Willebrand factor A domain containing 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1641961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311670	Vwa3a	von Willebrand factor A domain containing 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1641961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311670	Vwa3a	von Willebrand factor A domain containing 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1641961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311670	Vwa3a	von Willebrand factor A domain containing 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1641961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311670	Vwa3a	von Willebrand factor A domain containing 3A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1641961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311671	Tcf7l1	transcription factor 7 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311671	Tcf7l1	transcription factor 7 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311671	Tcf7l1	transcription factor 7 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311671	Tcf7l1	transcription factor 7 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311671	Tcf7l1	transcription factor 7 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311671	Tcf7l1	transcription factor 7 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311671	Tcf7l1	transcription factor 7 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311671	Tcf7l1	transcription factor 7 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323251	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311671	Tcf7l1	transcription factor 7 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311671	Tcf7l1	transcription factor 7 like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311671	Tcf7l1	transcription factor 7 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311671	Tcf7l1	transcription factor 7 like 1	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1323251	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:23811263
1311671	Tcf7l1	transcription factor 7 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311671	Tcf7l1	transcription factor 7 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311672	Cnot2	CCR4-NOT transcription complex, subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311672	Cnot2	CCR4-NOT transcription complex, subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311672	Cnot2	CCR4-NOT transcription complex, subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311672	Cnot2	CCR4-NOT transcription complex, subunit 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311672	Cnot2	CCR4-NOT transcription complex, subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311672	Cnot2	CCR4-NOT transcription complex, subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323253	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311672	Cnot2	CCR4-NOT transcription complex, subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311672	Cnot2	CCR4-NOT transcription complex, subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311672	Cnot2	CCR4-NOT transcription complex, subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1323253	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311672	Cnot2	CCR4-NOT transcription complex, subunit 2	gene	DOID:9003704	Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies		ISO	RGD:1323253	D	RGD:7240710	20191113	OMIM			
1311672	Cnot2	CCR4-NOT transcription complex, subunit 2	gene	DOID:9003704	Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies		ISO	RGD:1323253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES | ClinVar Annotator: match by term: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	PMID:25741868
1311672	Cnot2	CCR4-NOT transcription complex, subunit 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323253	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1311672	Cnot2	CCR4-NOT transcription complex, subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1343110	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28314734
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:10126	keratoconus		ISO	RGD:1343110	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23291589
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:1067	open-angle glaucoma		ISO	RGD:1343110	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:23291589
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:1115	sarcoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:1324	lung cancer		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:1909	melanoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:4362	cervical cancer		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:4586	familial meningioma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial meningioma	PMID:25741868
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1343110	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1343110	D	RGD:11554173	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311673	Fndc3b	fibronectin type III domain containing 3B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311675	G0s2	G0/G1switch 2	gene	DOID:0080600	COVID-19		ISO	RGD:1604363	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311675	G0s2	G0/G1switch 2	gene	DOID:305	carcinoma		ISO	RGD:1604363	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1311675	G0s2	G0/G1switch 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1604363	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1311675	G0s2	G0/G1switch 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604363	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311675	G0s2	G0/G1switch 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1604363	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1311677	Rfx5	regulatory factor X5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311677	Rfx5	regulatory factor X5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311677	Rfx5	regulatory factor X5	gene	DOID:10534	stomach cancer		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311677	Rfx5	regulatory factor X5	gene	DOID:3275	thymoma		ISO	RGD:1323259	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311677	Rfx5	regulatory factor X5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311677	Rfx5	regulatory factor X5	gene	DOID:5812	MHC class II deficiency		ISO	RGD:1323259	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency	PMID:10079298|PMID:12368908|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098
1311677	Rfx5	regulatory factor X5	gene	DOID:5812	MHC class II deficiency		ISO	RGD:1323259	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency	PMID:10079298|PMID:12368908|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:29527204|PMID:30084052|PMID:30170160|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098
1311677	Rfx5	regulatory factor X5	gene	DOID:5812	MHC class II deficiency		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MHC class II deficiency	PMID:10079298|PMID:10395672|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:32135276|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098
1311677	Rfx5	regulatory factor X5	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1323259	D	RGD:1599742|PMID:9401005	20070213	RGD			
1311677	Rfx5	regulatory factor X5	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1323259	D	RGD:1599743|PMID:7744245	20070213	RGD			
1311677	Rfx5	regulatory factor X5	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1323259	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Bare Lymphocyte Syndrome	PMID:10079298|PMID:16199547|PMID:25741868|PMID:28492532|PMID:7744245|PMID:9401005
1311677	Rfx5	regulatory factor X5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311677	Rfx5	regulatory factor X5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311677	Rfx5	regulatory factor X5	gene	DOID:9008744	MHC CLASS II DEFICIENCY 3		ISO	RGD:1323259	D	RGD:7240710	20240619	OMIM			
1311677	Rfx5	regulatory factor X5	gene	DOID:9008744	MHC CLASS II DEFICIENCY 3		ISO	RGD:1323259	D	RGD:8554872	20240618	ClinVar		ClinVar Annotator: match by term: MHC CLASS II DEFICIENCY 3 | ClinVar Annotator: match by term: MHC class II deficiency 3	PMID:10079298|PMID:25741868|PMID:28492532|PMID:30084052|PMID:30170160|PMID:32888943|PMID:37584719|PMID:7744245|PMID:9401005
1311677	Rfx5	regulatory factor X5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323259	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311677	Rfx5	regulatory factor X5	gene	DOID:9009158	MHC CLASS II DEFICIENCY 1		ISO	RGD:1323259	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: MHC class II deficiency 1	PMID:10079298|PMID:12368908|PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7744245|PMID:9401005
1311677	Rfx5	regulatory factor X5	gene	DOID:9009174	MHC CLASS II DEFICIENCY 5		ISO	RGD:1323259	D	RGD:7240710	20240821	OMIM			
1311678	Cnbd2	cyclic nucleotide binding domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311678	Cnbd2	cyclic nucleotide binding domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1323261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311678	Cnbd2	cyclic nucleotide binding domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1323261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311678	Cnbd2	cyclic nucleotide binding domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311678	Cnbd2	cyclic nucleotide binding domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323261	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311678	Cnbd2	cyclic nucleotide binding domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311679	Tmed1	transmembrane p24 trafficking protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1354453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311679	Tmed1	transmembrane p24 trafficking protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354453	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311679	Tmed1	transmembrane p24 trafficking protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311679	Tmed1	transmembrane p24 trafficking protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311679	Tmed1	transmembrane p24 trafficking protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311680	Atp6v1e2	ATPase H+ transporting V1 subunit E2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311680	Atp6v1e2	ATPase H+ transporting V1 subunit E2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311683	Rhobtb3	Rho-related BTB domain containing 3	gene	DOID:0080600	COVID-19		ISO	RGD:1323267	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311683	Rhobtb3	Rho-related BTB domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1323267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311683	Rhobtb3	Rho-related BTB domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311683	Rhobtb3	Rho-related BTB domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311683	Rhobtb3	Rho-related BTB domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
1311683	Rhobtb3	Rho-related BTB domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311683	Rhobtb3	Rho-related BTB domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311684	Tshz1	teashirt zinc finger homeobox 1	gene	DOID:1059	intellectual disability		ISO	RGD:1323269	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868
1311684	Tshz1	teashirt zinc finger homeobox 1	gene	DOID:1115	sarcoma		ISO	RGD:1323269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311684	Tshz1	teashirt zinc finger homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311684	Tshz1	teashirt zinc finger homeobox 1	gene	DOID:9004309	Congenital Aural Atresia		ISO	RGD:1323269	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311684	Tshz1	teashirt zinc finger homeobox 1	gene	DOID:9004309	Congenital Aural Atresia		ISO	RGD:1323269	D	RGD:7240710	20130221	OMIM			
1311684	Tshz1	teashirt zinc finger homeobox 1	gene	DOID:9004309	Congenital Aural Atresia		ISO	RGD:1323269	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AURAL ATRESIA, CONGENITAL | ClinVar Annotator: match by term: Aural atresia, congenital | ClinVar Annotator: match by term: TSHZ1-related condition	PMID:25741868
1311684	Tshz1	teashirt zinc finger homeobox 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323269	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1311684	Tshz1	teashirt zinc finger homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311685	Nid2	nidogen 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311685	Nid2	nidogen 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311685	Nid2	nidogen 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311685	Nid2	nidogen 2	gene	DOID:1115	sarcoma		ISO	RGD:1323271	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311685	Nid2	nidogen 2	gene	DOID:1324	lung cancer		ISO	RGD:1323271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311685	Nid2	nidogen 2	gene	DOID:1909	melanoma		ISO	RGD:1323271	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311685	Nid2	nidogen 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311685	Nid2	nidogen 2	gene	DOID:3275	thymoma		ISO	RGD:1323271	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311685	Nid2	nidogen 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311685	Nid2	nidogen 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311685	Nid2	nidogen 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311685	Nid2	nidogen 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323271	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311685	Nid2	nidogen 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311685	Nid2	nidogen 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311685	Nid2	nidogen 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1323271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311686	Bpifc	BPI fold containing family C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311686	Bpifc	BPI fold containing family C	gene	DOID:5041	esophageal cancer		ISO	RGD:1323273	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311686	Bpifc	BPI fold containing family C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311688	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311688	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:1115	sarcoma		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311688	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:1324	lung cancer		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311688	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:1909	melanoma		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311688	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:303	substance-related disorder		ISO	RGD:36174057	D	RGD:11554173	20210209	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1311688	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311688	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:36174057	D	RGD:11554173	20210209	CTD		CTD Direct Evidence: marker/mechanism	PMID:19075277
1311688	Bcar3	BCAR3 adaptor protein, NSP family member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311689	Ubac2	UBA domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311689	Ubac2	UBA domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311689	Ubac2	UBA domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1323278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311689	Ubac2	UBA domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1323278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311689	Ubac2	UBA domain containing 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1323278	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1311689	Ubac2	UBA domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311689	Ubac2	UBA domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311689	Ubac2	UBA domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323278	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311689	Ubac2	UBA domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311689	Ubac2	UBA domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311689	Ubac2	UBA domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:0080588	agammaglobulinemia 5		ISO	RGD:1323279	D	RGD:7240710	20190327	OMIM			
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:0080588	agammaglobulinemia 5		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant | ClinVar Annotator: match by term: LRRC8A-related condition	PMID:14660746|PMID:25741868|PMID:28492532
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:10426	Klippel-Feil syndrome		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Klippel-Feil syndrome	PMID:25741868
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:10907	microcephaly		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:1115	sarcoma		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1323279	D	RGD:11554173	20190402	CTD		CTD Direct Evidence: marker/mechanism	
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1323279	D	RGD:1599837|PMID:14660746	20070216	RGD			
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:674	cleft palate		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:9007661	Dwarfism		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311690	Lrrc8a	leucine rich repeat containing 8 VRAC subunit A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311691	Ripk4	receptor-interacting serine-threonine kinase 4	gene	DOID:0060055	popliteal pterygium syndrome		ISS	RGD:1323282	D	RGD:13592920	20180518	MouseDO		OMIM:119500 | OMIM:263650	
1311691	Ripk4	receptor-interacting serine-threonine kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311691	Ripk4	receptor-interacting serine-threonine kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311691	Ripk4	receptor-interacting serine-threonine kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311691	Ripk4	receptor-interacting serine-threonine kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311691	Ripk4	receptor-interacting serine-threonine kinase 4	gene	DOID:9001939	Bartsocas-Papas Syndrome 1		ISO	RGD:1323281	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311691	Ripk4	receptor-interacting serine-threonine kinase 4	gene	DOID:9001939	Bartsocas-Papas Syndrome 1		ISO	RGD:1323281	D	RGD:7240710	20141015	OMIM			
1311691	Ripk4	receptor-interacting serine-threonine kinase 4	gene	DOID:9001939	Bartsocas-Papas Syndrome 1		ISO	RGD:1323281	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 1 | ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1	PMID:25741868|PMID:28492532
1311691	Ripk4	receptor-interacting serine-threonine kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311691	Ripk4	receptor-interacting serine-threonine kinase 4	gene	DOID:9008620	Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome		ISO	RGD:1323281	D	RGD:7240710	20221207	OMIM			
1311691	Ripk4	receptor-interacting serine-threonine kinase 4	gene	DOID:9008620	Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome		ISO	RGD:1323281	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHAND SYNDROME | ClinVar Annotator: match by term: RIPK4-related condition	PMID:25741868|PMID:28492532
1311692	Marchf10	membrane associated ring-CH-type finger 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311692	Marchf10	membrane associated ring-CH-type finger 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311692	Marchf10	membrane associated ring-CH-type finger 10	gene	DOID:1324	lung cancer		ISO	RGD:1601818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311692	Marchf10	membrane associated ring-CH-type finger 10	gene	DOID:3070	high grade glioma		ISO	RGD:1601818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311692	Marchf10	membrane associated ring-CH-type finger 10	gene	DOID:4362	cervical cancer		ISO	RGD:1601818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311692	Marchf10	membrane associated ring-CH-type finger 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311693	Plscr4	phospholipid scramblase 4	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1323284	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1311693	Plscr4	phospholipid scramblase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311693	Plscr4	phospholipid scramblase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311693	Plscr4	phospholipid scramblase 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311693	Plscr4	phospholipid scramblase 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311693	Plscr4	phospholipid scramblase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311693	Plscr4	phospholipid scramblase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311693	Plscr4	phospholipid scramblase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1323284	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311693	Plscr4	phospholipid scramblase 4	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1323284	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1311693	Plscr4	phospholipid scramblase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311693	Plscr4	phospholipid scramblase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:0050581	brachydactyly		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1601873	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:0060970	Cornelia de Lange syndrome 6		ISO	RGD:1601873	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cornelia de Lange syndrome 6	PMID:25741868
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:0080006	bone development disease		ISO	RGD:1601873	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:1059	intellectual disability		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:10907	microcephaly		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25730767|PMID:25741868|PMID:28492532
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:12270	coloboma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:13620	patent foramen ovale		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25730767|PMID:25741868|PMID:28492532
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25730767|PMID:25741868|PMID:28492532
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:1561	cognitive disorder		ISO	RGD:1601873	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:1682	congenital heart disease		ISO	RGD:1601873	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1601873	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:630	genetic disease		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:83	cataract		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25730767|PMID:25741868|PMID:28492532
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:8445	intestinal volvulus		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Volvulus	PMID:25730767|PMID:25741868|PMID:28492532
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:850	lung disease		ISO	RGD:1601873	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:1601873	D	RGD:155631266|PMID:33417923	20221028	RGD			
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9000590	Dyspnea		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25730767|PMID:25741868|PMID:28492532
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9001487	Facies		ISO	RGD:1601873	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9001581	Constipation		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25730767
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9004610	Acute Lung Injury	treatment	IEP		D	RGD:155631268|PMID:31466050	20221028	RGD			
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9006257	Growth Disorders		ISO	RGD:1601873	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9006799	CHOPS Syndrome		ISO	RGD:1601873	D	RGD:7240710	20170301	OMIM			
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9006799	CHOPS Syndrome		ISO	RGD:1601873	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: AFF4-related condition | ClinVar Annotator: match by term: CHOPS SYNDROME | ClinVar Annotator: match by term: Chops syndrome | ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	PMID:17576681|PMID:25730767|PMID:25741868|PMID:28492532|PMID:29758562|PMID:31058441|PMID:34782754|PMID:9536098
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1601873	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1601873	D	RGD:155631267|PMID:35223479	20221028	RGD			
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9970	obesity		ISO	RGD:1601873	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
1311694	Aff4	ALF transcription elongation factor 4	gene	DOID:9970	obesity		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:0060249	scoliosis		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25638461|PMID:25741868|PMID:28492532|PMID:30026338
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:0080099	myopathy, lactic acidosis, and sideroblastic anemia		ISO	RGD:1606290	D	RGD:11554173	20190326	CTD		CTD Direct Evidence: marker/mechanism	
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:0111186	myopathy, lactic acidosis, and sideroblastic anemia 2		ISO	RGD:1606290	D	RGD:7240710	20190320	OMIM			
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:0111186	myopathy, lactic acidosis, and sideroblastic anemia 2		ISO	RGD:1606290	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 | ClinVar Annotator: match by term: YARS2-related condition	PMID:20598274|PMID:23918765|PMID:24088041|PMID:24344687|PMID:25638461|PMID:25741868|PMID:26633545|PMID:26944241|PMID:28492532|PMID:30026338|PMID:33144682|PMID:35393742|PMID:38703036
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:1115	sarcoma		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:11155	hypohidrosis		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:11830	myopia		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:12721	multiple epiphyseal dysplasia		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epiphyseal dysplasia	PMID:25638461|PMID:25741868|PMID:28492532|PMID:30026338
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:14213	hypophosphatasia		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Decreased circulating alkaline phosphatase activity	PMID:25638461|PMID:25741868|PMID:28492532|PMID:30026338
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:1891	optic nerve disease		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:1909	melanoma		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:480	movement disease		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:630	genetic disease		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20598274|PMID:24344687|PMID:25638461|PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1606290	D	RGD:8554872	20171010	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:28812649
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25638461|PMID:25741868|PMID:28492532|PMID:30026338
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9007736	Vertigo		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311696	Yars2	tyrosyl-tRNA synthetase 2	gene	DOID:9834	hyperopia		ISO	RGD:1606290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:10283	prostate cancer		ISO	RGD:1323289	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:10283	prostate cancer		ISO	RGD:1323289	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:3070	high grade glioma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1323289	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311697	Ibtk	inhibitor of Bruton tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311698	Hhipl1	HHIP-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311698	Hhipl1	HHIP-like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1349549	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1311698	Hhipl1	HHIP-like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1349549	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1311698	Hhipl1	HHIP-like 1	gene	DOID:1909	melanoma		ISO	RGD:1349549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311698	Hhipl1	HHIP-like 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1349549	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990
1311698	Hhipl1	HHIP-like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311698	Hhipl1	HHIP-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311698	Hhipl1	HHIP-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311699	Dpf2	double PHD fingers 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311699	Dpf2	double PHD fingers 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1323292	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1311699	Dpf2	double PHD fingers 2	gene	DOID:0060249	scoliosis		ISO	RGD:1323292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
1311699	Dpf2	double PHD fingers 2	gene	DOID:0112369	Coffin-Siris syndrome 7		ISO	RGD:1323292	D	RGD:7240710	20190315	OMIM			
1311699	Dpf2	double PHD fingers 2	gene	DOID:0112369	Coffin-Siris syndrome 7		ISO	RGD:1323292	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 7 | ClinVar Annotator: match by term: Coffin-Siris syndrome 7 | ClinVar Annotator: match by term: DPF2-related condition	PMID:25741868|PMID:28492532|PMID:29429572|PMID:29429672|PMID:31207137
1311699	Dpf2	double PHD fingers 2	gene	DOID:1059	intellectual disability		ISO	RGD:1323292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:29429572
1311699	Dpf2	double PHD fingers 2	gene	DOID:1115	sarcoma		ISO	RGD:1323292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311699	Dpf2	double PHD fingers 2	gene	DOID:11830	myopia		ISO	RGD:1323292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:29429572
1311699	Dpf2	double PHD fingers 2	gene	DOID:1205	allergic disease		ISO	RGD:1323292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:28533407
1311699	Dpf2	double PHD fingers 2	gene	DOID:12849	autistic disorder		ISO	RGD:1323292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:29429572
1311699	Dpf2	double PHD fingers 2	gene	DOID:1324	lung cancer		ISO	RGD:1323292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311699	Dpf2	double PHD fingers 2	gene	DOID:1909	melanoma		ISO	RGD:1323292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311699	Dpf2	double PHD fingers 2	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1323292	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome	PMID:25741868
1311699	Dpf2	double PHD fingers 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1323292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:29429572
1311699	Dpf2	double PHD fingers 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311699	Dpf2	double PHD fingers 2	gene	DOID:3275	thymoma		ISO	RGD:1323292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311699	Dpf2	double PHD fingers 2	gene	DOID:535	sleep disorder		ISO	RGD:1323292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:29429572
1311699	Dpf2	double PHD fingers 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311699	Dpf2	double PHD fingers 2	gene	DOID:630	genetic disease		ISO	RGD:1323292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28533407|PMID:29429572
1311699	Dpf2	double PHD fingers 2	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1323292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:25741868|PMID:29429572
1311699	Dpf2	double PHD fingers 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:29429572
1311699	Dpf2	double PHD fingers 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311699	Dpf2	double PHD fingers 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1323292	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1311699	Dpf2	double PHD fingers 2	gene	DOID:9970	obesity		ISO	RGD:1323292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:29429572
1311700	Ccdc85a	coiled-coil domain containing 85A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311700	Ccdc85a	coiled-coil domain containing 85A	gene	DOID:0060058	lymphoma		ISO	RGD:1605892	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311700	Ccdc85a	coiled-coil domain containing 85A	gene	DOID:1115	sarcoma		ISO	RGD:1605892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311700	Ccdc85a	coiled-coil domain containing 85A	gene	DOID:1324	lung cancer		ISO	RGD:1605892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311700	Ccdc85a	coiled-coil domain containing 85A	gene	DOID:3070	high grade glioma		ISO	RGD:1605892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311700	Ccdc85a	coiled-coil domain containing 85A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311700	Ccdc85a	coiled-coil domain containing 85A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311700	Ccdc85a	coiled-coil domain containing 85A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311701	Smtnl1	smoothelin-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311701	Smtnl1	smoothelin-like 1	gene	DOID:1909	melanoma		ISO	RGD:1601815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311701	Smtnl1	smoothelin-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311702	Uba5	ubiquitin-like modifier activating enzyme 5	gene	DOID:0080424	developmental and epileptic encephalopathy 44		ISO	RGD:1323296	D	RGD:7240710	20190315	OMIM			
1311702	Uba5	ubiquitin-like modifier activating enzyme 5	gene	DOID:0080424	developmental and epileptic encephalopathy 44		ISO	RGD:1323296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44	PMID:25741868
1311702	Uba5	ubiquitin-like modifier activating enzyme 5	gene	DOID:0111615	autosomal recessive spinocerebellar ataxia 24		ISO	RGD:1323296	D	RGD:7240710	20190315	OMIM			
1311702	Uba5	ubiquitin-like modifier activating enzyme 5	gene	DOID:13580	cholestasis		ISO	RGD:1323296	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1311702	Uba5	ubiquitin-like modifier activating enzyme 5	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1323296	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1311702	Uba5	ubiquitin-like modifier activating enzyme 5	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1323296	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1311703	C1h11orf58	similar to human chromosome 11 open reading frame 58	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311703	C1h11orf58	similar to human chromosome 11 open reading frame 58	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311703	C1h11orf58	similar to human chromosome 11 open reading frame 58	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311704	Lcor	ligand dependent nuclear receptor corepressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311704	Lcor	ligand dependent nuclear receptor corepressor	gene	DOID:10283	prostate cancer		ISO	RGD:1603601	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1311704	Lcor	ligand dependent nuclear receptor corepressor	gene	DOID:3275	thymoma		ISO	RGD:1603601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311704	Lcor	ligand dependent nuclear receptor corepressor	gene	DOID:4362	cervical cancer		ISO	RGD:1603601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311704	Lcor	ligand dependent nuclear receptor corepressor	gene	DOID:5041	esophageal cancer		ISO	RGD:1603601	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311704	Lcor	ligand dependent nuclear receptor corepressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311704	Lcor	ligand dependent nuclear receptor corepressor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311705	Fkbp14	FKBP prolyl isomerase 14	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1323300	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related	PMID:22265013|PMID:24677762|PMID:25741868|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235
1311705	Fkbp14	FKBP prolyl isomerase 14	gene	DOID:0080735	Ehlers-Danlos syndrome kyphoscoliotic type 2		ISO	RGD:1323300	D	RGD:7240710	20140911	OMIM			
1311705	Fkbp14	FKBP prolyl isomerase 14	gene	DOID:0080735	Ehlers-Danlos syndrome kyphoscoliotic type 2		ISO	RGD:1323300	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2	PMID:28492532
1311706	Hdac11	histone deacetylase 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311706	Hdac11	histone deacetylase 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311706	Hdac11	histone deacetylase 11	gene	DOID:10534	stomach cancer		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311706	Hdac11	histone deacetylase 11	gene	DOID:1115	sarcoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311706	Hdac11	histone deacetylase 11	gene	DOID:1909	melanoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311706	Hdac11	histone deacetylase 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311706	Hdac11	histone deacetylase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311706	Hdac11	histone deacetylase 11	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311706	Hdac11	histone deacetylase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:0051041	primary autosomal recessive microcephaly 30		ISO	RGD:1323304	D	RGD:7240710	20230104	OMIM			
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:0051041	primary autosomal recessive microcephaly 30		ISO	RGD:1323304	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 30, primary, autosomal recessive	PMID:25741868|PMID:28492532|PMID:35044816
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:0080600	COVID-19		ISO	RGD:1323304	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1323304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1323304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:1909	melanoma		ISO	RGD:1323304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:3070	high grade glioma		ISO	RGD:1323304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:3275	thymoma		ISO	RGD:1323304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1323304	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:630	genetic disease		ISO	RGD:1323304	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323304	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1323304	D	RGD:11554173	20200805	CTD		CTD Direct Evidence: marker/mechanism	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:1323304	D	RGD:7240710	20200226	OMIM			
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:1323304	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BUB1-related condition | ClinVar Annotator: match by term: COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY, SOMATIC | ClinVar Annotator: match by term: Colorectal cancer	PMID:17576681|PMID:28492532|PMID:9536098
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:1323304	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BUB1-related condition | ClinVar Annotator: match by term: COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY, SOMATIC | ClinVar Annotator: match by term: Colorectal cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311707	Bub1	BUB1 mitotic checkpoint serine/threonine kinase	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1323304	D	RGD:1600539|PMID:9521327	20070313	RGD		DNA:splice-site mutation, missense mutation	
1311708	Olfm4	olfactomedin 4	gene	DOID:289	endometriosis		ISO	RGD:1323306	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21048224
1311708	Olfm4	olfactomedin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311708	Olfm4	olfactomedin 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311708	Olfm4	olfactomedin 4	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:1323306	D	RGD:11055817|PMID:25953783	20260310	RGD		DNA:SNP: :rs12429545	
1311709	Mrto4	MRT4 homolog, ribosome maturation factor	gene	DOID:0060058	lymphoma		ISO	RGD:1323307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311709	Mrto4	MRT4 homolog, ribosome maturation factor	gene	DOID:10534	stomach cancer		ISO	RGD:1323307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311709	Mrto4	MRT4 homolog, ribosome maturation factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311709	Mrto4	MRT4 homolog, ribosome maturation factor	gene	DOID:1115	sarcoma		ISO	RGD:1323307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311709	Mrto4	MRT4 homolog, ribosome maturation factor	gene	DOID:2394	ovarian cancer		ISO	RGD:1323307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311709	Mrto4	MRT4 homolog, ribosome maturation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311709	Mrto4	MRT4 homolog, ribosome maturation factor	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311709	Mrto4	MRT4 homolog, ribosome maturation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311709	Mrto4	MRT4 homolog, ribosome maturation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311709	Mrto4	MRT4 homolog, ribosome maturation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311710	Paqr8	progestin and adipoQ receptor family member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311710	Paqr8	progestin and adipoQ receptor family member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1323309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311710	Paqr8	progestin and adipoQ receptor family member 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311710	Paqr8	progestin and adipoQ receptor family member 8	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311710	Paqr8	progestin and adipoQ receptor family member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311711	Itga11	integrin subunit alpha 11	gene	DOID:10534	stomach cancer		ISO	RGD:1323311	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311711	Itga11	integrin subunit alpha 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311711	Itga11	integrin subunit alpha 11	gene	DOID:1115	sarcoma		ISO	RGD:1323311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311711	Itga11	integrin subunit alpha 11	gene	DOID:1793	pancreatic cancer		ISO	RGD:1323311	D	RGD:5490966|PMID:18772397	20140724	RGD		DNA:mutations:exon	
1311711	Itga11	integrin subunit alpha 11	gene	DOID:1909	melanoma		ISO	RGD:1323311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311711	Itga11	integrin subunit alpha 11	gene	DOID:4362	cervical cancer		ISO	RGD:1323311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311711	Itga11	integrin subunit alpha 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311711	Itga11	integrin subunit alpha 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1323311	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311711	Itga11	integrin subunit alpha 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311711	Itga11	integrin subunit alpha 11	gene	DOID:630	genetic disease		ISO	RGD:1323311	D	RGD:8554872	20180109	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311711	Itga11	integrin subunit alpha 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311711	Itga11	integrin subunit alpha 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311711	Itga11	integrin subunit alpha 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311712	Nab2	Ngfi-A binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311712	Nab2	Ngfi-A binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1323313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311712	Nab2	Ngfi-A binding protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1323313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311712	Nab2	Ngfi-A binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311712	Nab2	Ngfi-A binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311712	Nab2	Ngfi-A binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311712	Nab2	Ngfi-A binding protein 2	gene	DOID:9002958	Solitary Fibrous Tumors		ISO	RGD:1323313	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23313952|PMID:23313954
1311712	Nab2	Ngfi-A binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311713	Spred3	sprouty-related, EVH1 domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1606081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311713	Spred3	sprouty-related, EVH1 domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311713	Spred3	sprouty-related, EVH1 domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311713	Spred3	sprouty-related, EVH1 domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311713	Spred3	sprouty-related, EVH1 domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311714	MICA	MHC class I polypeptide-related sequence A	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1345713	D	RGD:9068941	20260416	RGD		DNA:haplotype:exon2-3, 4-5:001/00201, 004/004	PMID:19363685|REF_RGD_ID:645123291
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1345713	D	RGD:645122550|PMID:35481955	20260409	RGD		protein:increased expression:serum	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345713	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:1115	sarcoma		ISO	RGD:1345713	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:11476	osteoporosis		IAGP		D	RGD:645238727|PMID:39674021	20260430	RGD		associated with Fluoride Poisoning; DNA:hypermethylation: :	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1345713	D	RGD:645122557|PMID:28925058	20260409	RGD		DNA:polymorphisms:cds:002:01(A9)	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:2755	Mycobacterium avium complex disease	susceptibility	ISO	RGD:1345713	D	RGD:645122564|PMID:19405864	20260409	RGD		DNA:polymorphism:exon 3:MICA-TM (A6), (rs1051790)	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:3275	thymoma		ISO	RGD:1345713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:3362	coronary aneurysm		ISO	RGD:1345713	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:10899738
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1345713	D	RGD:645122562|PMID:23935919	20260409	RGD			
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1345713	D	RGD:645122554|PMID:35780757	20260409	RGD		mRNA, protein:decreased expression:lung	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:4254	osteosclerosis		IAGP		D	RGD:645238727|PMID:39674021	20260430	RGD		associated with Fluoride Poisoning; DNA:hypomethylation: :	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:4254	osteosclerosis		IEP		D	RGD:645238727|PMID:39674021	20260430	RGD		associated with Fluoride Poisoning; protein:increased expression:	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:4556	lung large cell carcinoma	severity	ISO	RGD:1345713	D	RGD:645122554|PMID:35780757	20260409	RGD		mRNA:decreased expression:lung	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345713	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345713	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:1345713	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:16311067
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345713	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:21499248
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1345713	D	RGD:9068941	20260416	RGD		associated with interstitial lung disease; protein:increased expression:blood	PMID:26327779|REF_RGD_ID:645123293
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345713	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:9004610	Acute Lung Injury	treatment	IEP		D	RGD:645122548|PMID:22360954	20260409	RGD		associated with burns	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:9004610	Acute Lung Injury	treatment	IEP		D	RGD:645122549|PMID:22455798	20260409	RGD		associated with burns	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311714	Mill1	MHC I like leukocyte 1	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1345713	D	RGD:645122559|PMID:19000729	20260409	RGD		DNA:polymorphism:CDS:M129V	
1311716	Lrrc2	leucine rich repeat containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311716	Lrrc2	leucine rich repeat containing 2	gene	DOID:1909	melanoma		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311716	Lrrc2	leucine rich repeat containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311716	Lrrc2	leucine rich repeat containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311716	Lrrc2	leucine rich repeat containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311716	Lrrc2	leucine rich repeat containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:1909	melanoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323319	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311717	Ubap2	ubiquitin-associated protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311718	Sox18	SRY-box transcription factor 18	gene	DOID:0111360	hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		ISO	RGD:1323321	D	RGD:7240710	20180405	OMIM			
1311718	Sox18	SRY-box transcription factor 18	gene	DOID:0111360	hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		ISO	RGD:1323321	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	PMID:25741868|PMID:29307792
1311718	Sox18	SRY-box transcription factor 18	gene	DOID:0111361	hypotrichosis-lymphedema-telangiectasia syndrome		ISO	RGD:1323321	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311718	Sox18	SRY-box transcription factor 18	gene	DOID:0111361	hypotrichosis-lymphedema-telangiectasia syndrome		ISO	RGD:1323321	D	RGD:1599075|PMID:12740761	20070116	RGD		DNA:missense mutations, nonsense mutation: 455G>C (p.A104P), 428T>A (p.W95R), 865C>A (p.C240X) (human)	
1311718	Sox18	SRY-box transcription factor 18	gene	DOID:0111361	hypotrichosis-lymphedema-telangiectasia syndrome		ISO	RGD:1323321	D	RGD:7240710	20130221	OMIM			
1311718	Sox18	SRY-box transcription factor 18	gene	DOID:0111361	hypotrichosis-lymphedema-telangiectasia syndrome		ISO	RGD:1323321	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME | ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome | ClinVar Annotator: match by term: SOX18-related condition	PMID:12740761|PMID:24697860|PMID:25741868|PMID:26148450|PMID:28492532|PMID:31358114
1311718	Sox18	SRY-box transcription factor 18	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1323321	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1311718	Sox18	SRY-box transcription factor 18	gene	DOID:37	skin disease		ISO	RGD:1323321	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1311718	Sox18	SRY-box transcription factor 18	gene	DOID:630	genetic disease		ISO	RGD:1323321	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311718	Sox18	SRY-box transcription factor 18	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1323321	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1311719	Zfp532	zinc finger protein 532	gene	DOID:0050840	cervical dystonia		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868
1311719	Zfp532	zinc finger protein 532	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311719	Zfp532	zinc finger protein 532	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1311719	Zfp532	zinc finger protein 532	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311719	Zfp532	zinc finger protein 532	gene	DOID:1115	sarcoma		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311719	Zfp532	zinc finger protein 532	gene	DOID:11830	myopia		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1311719	Zfp532	zinc finger protein 532	gene	DOID:1657	ventricular septal defect		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1311719	Zfp532	zinc finger protein 532	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1311719	Zfp532	zinc finger protein 532	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311719	Zfp532	zinc finger protein 532	gene	DOID:4362	cervical cancer		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311719	Zfp532	zinc finger protein 532	gene	DOID:540	strabismus		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1311719	Zfp532	zinc finger protein 532	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311719	Zfp532	zinc finger protein 532	gene	DOID:674	cleft palate		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1311719	Zfp532	zinc finger protein 532	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
1311719	Zfp532	zinc finger protein 532	gene	DOID:9003591	Telecanthus		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
1311719	Zfp532	zinc finger protein 532	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1311719	Zfp532	zinc finger protein 532	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311719	Zfp532	zinc finger protein 532	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311719	Zfp532	zinc finger protein 532	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1323323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
1311719	Zfp532	zinc finger protein 532	gene	DOID:9775	diastolic heart failure		ISO	RGD:1551867	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:0060438	Cole-Carpenter syndrome		ISO	RGD:1323325	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:0080010	bone structure disease		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of bone mineral density	PMID:16199547|PMID:25683121|PMID:28492532|PMID:30462379
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:10534	stomach cancer		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:1115	sarcoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:1324	lung cancer		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:1826	epilepsy		ISO	RGD:1323325	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:1909	melanoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:16199547|PMID:25683121|PMID:28492532|PMID:30462379
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:3275	thymoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:4362	cervical cancer		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:5041	esophageal cancer		ISO	RGD:1323325	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:630	genetic disease		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:25683121|PMID:28492532|PMID:30462379
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:9004736	Cole-Carpenter Syndrome 2		ISO	RGD:1323325	D	RGD:7240710	20170301	OMIM			
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:9004736	Cole-Carpenter Syndrome 2		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COLE-CARPENTER SYNDROME 2 | ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition	PMID:25683121|PMID:25741868|PMID:26467156|PMID:27942778|PMID:28492532|PMID:30462379|PMID:37270749
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1311720	Sec24d	SEC24 homolog D, COPII component	gene	DOID:9256	colorectal cancer		ISO	RGD:1323325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1311721	Nmi	N-myc (and STAT) interactor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311721	Nmi	N-myc (and STAT) interactor	gene	DOID:0080600	COVID-19		ISO	RGD:1323327	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1311721	Nmi	N-myc (and STAT) interactor	gene	DOID:10534	stomach cancer		ISO	RGD:1323327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311721	Nmi	N-myc (and STAT) interactor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311721	Nmi	N-myc (and STAT) interactor	gene	DOID:2394	ovarian cancer		ISO	RGD:1323327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311721	Nmi	N-myc (and STAT) interactor	gene	DOID:3275	thymoma		ISO	RGD:1323327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311721	Nmi	N-myc (and STAT) interactor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311721	Nmi	N-myc (and STAT) interactor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311721	Nmi	N-myc (and STAT) interactor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323327	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311721	Nmi	N-myc (and STAT) interactor	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311721	Nmi	N-myc (and STAT) interactor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311723	Cep295	centrosomal protein 295	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311723	Cep295	centrosomal protein 295	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1602084	D	RGD:8554872	20200707	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	
1311723	Cep295	centrosomal protein 295	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311723	Cep295	centrosomal protein 295	gene	DOID:10534	stomach cancer		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311723	Cep295	centrosomal protein 295	gene	DOID:1115	sarcoma		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311723	Cep295	centrosomal protein 295	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311723	Cep295	centrosomal protein 295	gene	DOID:3275	thymoma		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311723	Cep295	centrosomal protein 295	gene	DOID:4362	cervical cancer		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311723	Cep295	centrosomal protein 295	gene	DOID:5041	esophageal cancer		ISO	RGD:1602084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311723	Cep295	centrosomal protein 295	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311723	Cep295	centrosomal protein 295	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311723	Cep295	centrosomal protein 295	gene	DOID:9005900	Seckel syndrome 11		ISO	RGD:1602084	D	RGD:7240710	20240424	OMIM			
1311723	Cep295	centrosomal protein 295	gene	DOID:9005900	Seckel syndrome 11		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SECKEL SYNDROME 11 | ClinVar Annotator: match by term: Seckel syndrome 11	PMID:25741868|PMID:38154379
1311723	Cep295	centrosomal protein 295	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311723	Cep295	centrosomal protein 295	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:0060058	lymphoma		ISO	RGD:1323330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:0080600	COVID-19		ISO	RGD:1323330	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:1115	sarcoma		ISO	RGD:1323330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:1909	melanoma		ISO	RGD:1323330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:2394	ovarian cancer		ISO	RGD:1323330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:3275	thymoma		ISO	RGD:1323330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1323330	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:4362	cervical cancer		ISO	RGD:1323330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1323330	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:5041	esophageal cancer		ISO	RGD:1323330	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:9000058	Keloid		ISO	RGD:1323330	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323330	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311724	Capg	capping actin protein, gelsolin like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323330	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18206229
1311725	Fgd3	FYVE, RhoGEF and PH domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311725	Fgd3	FYVE, RhoGEF and PH domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311725	Fgd3	FYVE, RhoGEF and PH domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311725	Fgd3	FYVE, RhoGEF and PH domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311725	Fgd3	FYVE, RhoGEF and PH domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311725	Fgd3	FYVE, RhoGEF and PH domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311725	Fgd3	FYVE, RhoGEF and PH domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1323334	D	RGD:11040460|PMID:19360458	20160308	RGD		mRNA:increased expression:blood:	
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:0111044	gray platelet syndrome		ISO	RGD:1323334	D	RGD:11040508|PMID:24325358	20160309	RGD		DNA:nonsense mutation:c.859C>T, p.Gln287X(human)	
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:0111049	platelet-type bleeding disorder 17		ISO	RGD:1323334	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:0111049	platelet-type bleeding disorder 17		ISO	RGD:1323334	D	RGD:7240710	20190320	OMIM			
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:0111049	platelet-type bleeding disorder 17		ISO	RGD:1323334	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 17 | ClinVar Annotator: match by term: GFI1B-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 17	PMID:20861919|PMID:23927492|PMID:24325358|PMID:25258084|PMID:25741868|PMID:27651169|PMID:28041820|PMID:28492532|PMID:28550182|PMID:28880435|PMID:29143464|PMID:30349881|PMID:30573501|PMID:31207059|PMID:32633597|PMID:32935436|PMID:34355501|PMID:36833422|PMID:37647632|PMID:5681484
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:10534	stomach cancer		ISO	RGD:1323334	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:12449	aplastic anemia		ISO	RGD:1323334	D	RGD:11040507|PMID:17156408	20160309	RGD		mRNA:decreased expression:bone marrow cell:	
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:1247	blood coagulation disease		ISO	RGD:1323334	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bleeding and platelet disorders	PMID:23927492|PMID:24325358|PMID:25258084|PMID:25741868|PMID:27651169|PMID:28041820|PMID:28492532|PMID:28550182|PMID:28880435|PMID:29143464|PMID:30349881|PMID:30573501|PMID:31207059|PMID:32633597|PMID:32935436|PMID:34355501|PMID:36833422|PMID:37647632
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:1588	thrombocytopenia		ISO	RGD:1323334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1323334	D	RGD:8554872	20211214	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:2223	platelet storage pool deficiency		ISO	RGD:1323334	D	RGD:8554872	20181113	ClinVar		ClinVar Annotator: match by term: Storage pool disease of platelets	PMID:25741868
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:630	genetic disease		ISO	RGD:1323334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:34355501
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:8761	acute megakaryocytic leukemia		ISO	RGD:1323334	D	RGD:11040507|PMID:17156408	20160309	RGD		mRNA:increased expression:bone marrow cell:	
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:9000647	Acute Erythroleukemia		ISO	RGD:1323334	D	RGD:11040507|PMID:17156408	20160309	RGD		mRNA:increased expression:bone marrow cell:	
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:9002867	Myeloid Leukemia, Chronic-Phase		ISO	RGD:1323334	D	RGD:11040460|PMID:19360458	20160308	RGD		mRNA:increased expression:blood:	
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:9003507	Premature Birth		ISO	RGD:1323334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323334	D	RGD:11040507|PMID:17156408	20160309	RGD		mRNA:increased expression:bone marrow cell:	
1311727	Gfi1b	growth factor independent 1B transcriptional repressor	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1323334	D	RGD:11040460|PMID:19360458	20160308	RGD		mRNA:increased expression:blood:	
1311728	Arhgef38	Rho guanine nucleotide exchange factor 38	gene	DOID:10534	stomach cancer		ISO	RGD:1603216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311728	Arhgef38	Rho guanine nucleotide exchange factor 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311728	Arhgef38	Rho guanine nucleotide exchange factor 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603216	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311728	Arhgef38	Rho guanine nucleotide exchange factor 38	gene	DOID:9256	colorectal cancer		ISO	RGD:1603216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311729	Gpr139	G protein-coupled receptor 139	gene	DOID:3275	thymoma		ISO	RGD:1323337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311730	Cep89	centrosomal protein 89	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311730	Cep89	centrosomal protein 89	gene	DOID:10534	stomach cancer		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311730	Cep89	centrosomal protein 89	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311730	Cep89	centrosomal protein 89	gene	DOID:1115	sarcoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311730	Cep89	centrosomal protein 89	gene	DOID:1909	melanoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311730	Cep89	centrosomal protein 89	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311730	Cep89	centrosomal protein 89	gene	DOID:4362	cervical cancer		ISO	RGD:1605924	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311730	Cep89	centrosomal protein 89	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311730	Cep89	centrosomal protein 89	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311730	Cep89	centrosomal protein 89	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311730	Cep89	centrosomal protein 89	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
1311730	Cep89	centrosomal protein 89	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311730	Cep89	centrosomal protein 89	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311730	Cep89	centrosomal protein 89	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311731	GSTM5	glutathione S-transferase mu 5	gene	DOID:13223	uterine fibroid		ISO	RGD:1343128	D	RGD:9068941	20231102	RGD		DNA:hypermethylation:uterus (human)	PMID:23818951|REF_RGD_ID:401851920
1311731	Gstm5l	glutathione S-transferase, mu 5-like	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343128	D	RGD:11554173	20230329	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1311731	Gstm5l	glutathione S-transferase, mu 5-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311731	Gstm5l	glutathione S-transferase, mu 5-like	gene	DOID:1115	sarcoma		ISO	RGD:1343128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311731	Gstm5l	glutathione S-transferase, mu 5-like	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1343128	D	RGD:11554173	20230329	CTD		CTD Direct Evidence: marker/mechanism	PMID:15964507
1311731	Gstm5l	glutathione S-transferase, mu 5-like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311731	Gstm5l	glutathione S-transferase, mu 5-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311731	Gstm5l	glutathione S-transferase, mu 5-like	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1343128	D	RGD:11554173	20230329	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
1311732	Cfap36	cilia and flagella associated protein 36	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311732	Cfap36	cilia and flagella associated protein 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311732	Cfap36	cilia and flagella associated protein 36	gene	DOID:10534	stomach cancer		ISO	RGD:1603927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311732	Cfap36	cilia and flagella associated protein 36	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311732	Cfap36	cilia and flagella associated protein 36	gene	DOID:2394	ovarian cancer		ISO	RGD:1603927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311732	Cfap36	cilia and flagella associated protein 36	gene	DOID:5041	esophageal cancer		ISO	RGD:1603927	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311732	Cfap36	cilia and flagella associated protein 36	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311732	Cfap36	cilia and flagella associated protein 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311732	Cfap36	cilia and flagella associated protein 36	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:0060249	scoliosis		ISO	RGD:1323342	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:0081337	congenital myopathy		ISO	RGD:1323342	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:0081343	congenital myopathy 9A		ISO	RGD:1323342	D	RGD:7240710	20200805	OMIM			
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:0081343	congenital myopathy 9A		ISO	RGD:1323342	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: FXR1-related disorder | ClinVar Annotator: match by term: Myopathy, congenital, with respiratory insufficiency and bone fractures	PMID:25741868|PMID:30770808|PMID:35393337
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:0081344	congenital myopathy 9B		ISO	RGD:1323342	D	RGD:7240710	20200520	OMIM			
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:0081344	congenital myopathy 9B		ISO	RGD:1323342	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 9B, PROXIMAL, WITH MINICORE LESIONS | ClinVar Annotator: match by term: Myopathy, congenital proximal, with minicore lesions	PMID:25741868
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:1059	intellectual disability		ISO	RGD:1323342	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:1115	sarcoma		ISO	RGD:1323342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1323342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:1324	lung cancer		ISO	RGD:1323342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:1909	melanoma		ISO	RGD:1323342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:3275	thymoma		ISO	RGD:1323342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311733	Fxr1	FMR1 autosomal homolog 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311734	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311734	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311734	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311734	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311734	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:3275	thymoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311734	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1323344	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	
1311734	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311734	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311734	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311734	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311734	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1323344	D	RGD:2302550|PMID:17726579	20081229	RGD			
1311734	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323344	D	RGD:2302550|PMID:17726579	20081229	RGD			
1311734	Wwp1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1323345	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:1115	sarcoma		ISO	RGD:1323345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:12361	Graves' disease		ISO	RGD:1323345	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446963
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:1909	melanoma		ISO	RGD:1323345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1323345	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:3275	thymoma		ISO	RGD:1323345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1323345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1323345	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446963|PMID:23143596
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:9001031	Retrognathia		ISO	RGD:1323345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1323345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1323345	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24712521
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323345	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311735	Arid5b	AT-rich interaction domain 5B	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1323345	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:19684603|PMID:19684604
1311739	Adissp	adipose secreted signaling protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311739	Adissp	adipose secreted signaling protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311739	Adissp	adipose secreted signaling protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311739	Adissp	adipose secreted signaling protein	gene	DOID:1909	melanoma		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311739	Adissp	adipose secreted signaling protein	gene	DOID:3070	high grade glioma		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311739	Adissp	adipose secreted signaling protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311739	Adissp	adipose secreted signaling protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311739	Adissp	adipose secreted signaling protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311740	Dhx32	DEAH-box helicase 32 (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311740	Dhx32	DEAH-box helicase 32 (putative)	gene	DOID:10534	stomach cancer		ISO	RGD:1323353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311740	Dhx32	DEAH-box helicase 32 (putative)	gene	DOID:1324	lung cancer		ISO	RGD:1323353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311740	Dhx32	DEAH-box helicase 32 (putative)	gene	DOID:4362	cervical cancer		ISO	RGD:1323353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311740	Dhx32	DEAH-box helicase 32 (putative)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311740	Dhx32	DEAH-box helicase 32 (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311740	Dhx32	DEAH-box helicase 32 (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311740	Dhx32	DEAH-box helicase 32 (putative)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311741	Cd2bp2	Cd2 (cytoplasmic tail) binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311741	Cd2bp2	Cd2 (cytoplasmic tail) binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311741	Cd2bp2	Cd2 (cytoplasmic tail) binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1323355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311741	Cd2bp2	Cd2 (cytoplasmic tail) binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311741	Cd2bp2	Cd2 (cytoplasmic tail) binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311741	Cd2bp2	Cd2 (cytoplasmic tail) binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311742	Spata24	spermatogenesis associated 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:3005862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311745	RGD1311745	similar to RIKEN cDNA 1110059G10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311745	RGD1311745	similar to RIKEN cDNA 1110059G10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:0060644	chondrodysplasia-pseudohermaphroditism syndrome		ISO	RGD:1351064	D	RGD:7240710	20201223	OMIM			
1311746	Hhat	hedgehog acyltransferase	gene	DOID:0060644	chondrodysplasia-pseudohermaphroditism syndrome		ISO	RGD:1351064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HHAT-related condition | ClinVar Annotator: match by term: NIVELON-NIVELON-MABILLE SYNDROME	PMID:25741868|PMID:28492532
1311746	Hhat	hedgehog acyltransferase	gene	DOID:0060644	chondrodysplasia-pseudohermaphroditism syndrome		ISS	RGD:1552712	D	RGD:13592920	20230718	MouseDO		OMIM:600092	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:10629	microphthalmia		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: microphthalmia	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:12270	coloboma		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: coloboma	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1351064	D	RGD:8554872	20180515	ClinVar		ClinVar Annotator: match by term: Hereditary disease	PMID:15075292|PMID:18534984|PMID:23055936|PMID:24784881
1311746	Hhat	hedgehog acyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:9006743	Spasm		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: muscle spasm	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:15075292|PMID:18534984|PMID:23055936|PMID:24784881
1311746	Hhat	hedgehog acyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311746	Hhat	hedgehog acyltransferase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1351064	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1311747	Hpf1	histone PARylation factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311747	Hpf1	histone PARylation factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311747	Hpf1	histone PARylation factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311747	Hpf1	histone PARylation factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311747	Hpf1	histone PARylation factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311747	Hpf1	histone PARylation factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:3070	high grade glioma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:3275	thymoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323365	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311748	Tcerg1	transcription elongation regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1323365	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311749	Gpn2	GPN-loop GTPase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311749	Gpn2	GPN-loop GTPase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311749	Gpn2	GPN-loop GTPase 2	gene	DOID:1909	melanoma		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311749	Gpn2	GPN-loop GTPase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311749	Gpn2	GPN-loop GTPase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311749	Gpn2	GPN-loop GTPase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311749	Gpn2	GPN-loop GTPase 2	gene	DOID:9003326	Perrault Syndrome 1		ISO	RGD:1603309	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Perrault syndrome 1	
1311750	Mettl3	methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311750	Mettl3	methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	gene	DOID:0080855	Parkinsonism		ISS	RGD:1323368	D	RGD:13592920	20260702	MouseDO			
1311750	Mettl3	methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311750	Mettl3	methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	gene	DOID:11476	osteoporosis		ISO	RGD:1348378	D	RGD:11554173	20260113	CTD		CTD Direct Evidence: therapeutic	PMID:40716628
1311750	Mettl3	methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	gene	DOID:1222	cartilage disease		ISO	RGD:1348378	D	RGD:11554173	20260602	CTD		CTD Direct Evidence: therapeutic	PMID:40919662
1311750	Mettl3	methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	gene	DOID:1324	lung cancer		ISO	RGD:1348378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311750	Mettl3	methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	gene	DOID:1909	melanoma		ISO	RGD:1348378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311750	Mettl3	methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311750	Mettl3	methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	gene	DOID:5082	liver cirrhosis		ISO	RGD:1348378	D	RGD:11554173	20251007	CTD		CTD Direct Evidence: therapeutic	PMID:37236586
1311750	Mettl3	methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311750	Mettl3	methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	gene	DOID:9002884	Emphysema		ISO	RGD:1348378	D	RGD:11554173	20210707	CTD		CTD Direct Evidence: therapeutic	PMID:33660100
1311750	Mettl3	methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	gene	DOID:9452	steatotic liver disease		ISO	RGD:1348378	D	RGD:11554173	20251007	CTD		CTD Direct Evidence: therapeutic	PMID:37236586
1311750	Mettl3	methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	gene	DOID:9538	multiple myeloma		ISO	RGD:1348378	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35038059
1311751	Mesp1	mesoderm posterior bHLH transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1311751	Mesp1	mesoderm posterior bHLH transcription factor 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1603631	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:24056064|PMID:25741868|PMID:26694203|PMID:28492532|PMID:28677747
1311751	Mesp1	mesoderm posterior bHLH transcription factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1311751	Mesp1	mesoderm posterior bHLH transcription factor 1	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:1603631	D	RGD:242905196|PMID:32550911	20230327	RGD		human gene and cell line in a rat model	
1311751	Mesp1	mesoderm posterior bHLH transcription factor 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1603631	D	RGD:242905212|PMID:33221518	20230328	RGD		associated with type 2 diabetes mellitus;DNA:increased expression:plasma (human)	
1311751	Mesp1	mesoderm posterior bHLH transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311751	Mesp1	mesoderm posterior bHLH transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1311752	Dimt1	DIM1 rRNA methyltransferase and ribosome maturation factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311752	Dimt1	DIM1 rRNA methyltransferase and ribosome maturation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311752	Dimt1	DIM1 rRNA methyltransferase and ribosome maturation factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311752	Dimt1	DIM1 rRNA methyltransferase and ribosome maturation factor	gene	DOID:1115	sarcoma		ISO	RGD:1603655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311752	Dimt1	DIM1 rRNA methyltransferase and ribosome maturation factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311752	Dimt1	DIM1 rRNA methyltransferase and ribosome maturation factor	gene	DOID:4362	cervical cancer		ISO	RGD:1603655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311752	Dimt1	DIM1 rRNA methyltransferase and ribosome maturation factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311752	Dimt1	DIM1 rRNA methyltransferase and ribosome maturation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311752	Dimt1	DIM1 rRNA methyltransferase and ribosome maturation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311752	Dimt1	DIM1 rRNA methyltransferase and ribosome maturation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311752	Dimt1	DIM1 rRNA methyltransferase and ribosome maturation factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311754	Prc1	protein regulator of cytokinesis 1	gene	DOID:1115	sarcoma		ISO	RGD:1323372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311754	Prc1	protein regulator of cytokinesis 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1323372	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
1311754	Prc1	protein regulator of cytokinesis 1	gene	DOID:3459	breast carcinoma		ISO	RGD:1323372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast carcinoma	
1311754	Prc1	protein regulator of cytokinesis 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323372	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1311754	Prc1	protein regulator of cytokinesis 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1323372	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043753
1311754	Prc1	protein regulator of cytokinesis 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323372	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25038754
1311754	Prc1	protein regulator of cytokinesis 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:9850373|RGD:9850374|RGD:9850447|RGD:9850448|RGD:9850449|RGD:9850450|RGD:9850451|RGD:9850452|RGD:9850454|RGD:9850455|RGD:9850456|RGD:9850457|RGD:9850459|RGD:9850460|RGD:9850461|RGD:9850462|RGD:9850463|RGD:9850464|RGD:9850465|RGD:9850466	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1323374	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pachygyria	PMID:14517542|PMID:16194727|PMID:20301787|PMID:23408394|PMID:24690360|PMID:25741868|PMID:28492532|PMID:29174527
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1323374	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:14517542|PMID:16194727|PMID:20301787|PMID:23408394|PMID:24690360|PMID:25741868|PMID:28492532|PMID:29174527
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:10629	microphthalmia		ISO	RGD:1323374	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:14517542|PMID:16194727|PMID:20301787|PMID:23408394|PMID:24690360|PMID:25741868|PMID:28492532|PMID:29174527
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:10907	microcephaly		ISO	RGD:1323374	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:14517542|PMID:16194727|PMID:20301787|PMID:23408394|PMID:24690360|PMID:25741868|PMID:28492532|PMID:29174527
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323374	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:83	cataract		ISO	RGD:1323374	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:14517542|PMID:16194727|PMID:20301787|PMID:23408394|PMID:24690360|PMID:25741868|PMID:28492532|PMID:29174527
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:9004866	Ataxia		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323374	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:14517542|PMID:16194727|PMID:20301787|PMID:23408394|PMID:24690360|PMID:25741868|PMID:28492532|PMID:29174527
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:9005826	Congenital Cataracts, Facial Dysmorphism, and Neuropathy		ISO	RGD:1323374	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:16194727
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:9005826	Congenital Cataracts, Facial Dysmorphism, and Neuropathy		ISO	RGD:1323374	D	RGD:7240710	20130221	OMIM			
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:9005826	Congenital Cataracts, Facial Dysmorphism, and Neuropathy		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CTDP1-related condition | ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311755	Ctdp1	CTD phosphatase subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1311756	Dglucy	D-glutamate cyclase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311756	Dglucy	D-glutamate cyclase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311756	Dglucy	D-glutamate cyclase	gene	DOID:4362	cervical cancer		ISO	RGD:1323376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311756	Dglucy	D-glutamate cyclase	gene	DOID:5041	esophageal cancer		ISO	RGD:1323376	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311756	Dglucy	D-glutamate cyclase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311756	Dglucy	D-glutamate cyclase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311756	Dglucy	D-glutamate cyclase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311756	Dglucy	D-glutamate cyclase	gene	DOID:9256	colorectal cancer		ISO	RGD:1323376	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311757	Rgp1	RGP1 partner of RAB6A GEF complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311757	Rgp1	RGP1 partner of RAB6A GEF complex	gene	DOID:3275	thymoma		ISO	RGD:1323378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311757	Rgp1	RGP1 partner of RAB6A GEF complex	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311757	Rgp1	RGP1 partner of RAB6A GEF complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1323378	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311757	Rgp1	RGP1 partner of RAB6A GEF complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311757	Rgp1	RGP1 partner of RAB6A GEF complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311757	Rgp1	RGP1 partner of RAB6A GEF complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311757	Rgp1	RGP1 partner of RAB6A GEF complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323378	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1323380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome	PMID:25741868|PMID:26712902|PMID:26712909|PMID:27133828|PMID:27795557|PMID:28492532|PMID:28547672|PMID:30963592|PMID:31484648|PMID:32098966|PMID:33585199
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:0111134	focal segmental glomerulosclerosis 9		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9	PMID:25741868|PMID:26712909|PMID:27133828|PMID:28492532|PMID:32307695|PMID:34644397|PMID:35443031|PMID:35671390|PMID:37199125|PMID:37874914
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:10534	stomach cancer		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:1115	sarcoma		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:12449	aplastic anemia		ISO	RGD:1323380	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:12450	pancytopenia		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:25741868|PMID:28492532|PMID:31484648|PMID:32054657|PMID:35443031|PMID:36347925|PMID:36923434
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:1909	melanoma		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:2226	myeloproliferative neoplasm		ISO	RGD:1323380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DDX41-related condition | ClinVar Annotator: match by term: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to	PMID:17576681|PMID:25741868|PMID:25920683|PMID:26712909|PMID:27133828|PMID:28492532|PMID:28547672|PMID:29365323|PMID:30407884|PMID:30963592|PMID:31256854|PMID:31400013|PMID:31470354|PMID:31484648|PMID:31713024|PMID:32054657|PMID:32307695|PMID:33332384|PMID:33533142|PMID:33585199|PMID:33626862|PMID:33778416|PMID:33850299|PMID:33929502|PMID:34482403|PMID:34492705|PMID:34644397|PMID:34671111|PMID:35443031|PMID:35671390|PMID:35844724|PMID:36322930|PMID:36347925|PMID:36455200|PMID:36542832|PMID:36672294|PMID:36923434|PMID:37144604|PMID:37154083|PMID:37199125|PMID:37216690|PMID:37406166|PMID:37434984|PMID:37450374|PMID:37506341|PMID:37665752|PMID:37710381|PMID:37874914|PMID:38016923|PMID:39453476|PMID:9536098
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:2226	myeloproliferative neoplasm	susceptibility	ISO	RGD:1323380	D	RGD:7240710	20230118	OMIM			
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:3382	liposarcoma		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Liposarcoma	PMID:25741868
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:3459	breast carcinoma		ISO	RGD:1323380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:28492532|PMID:33585199|PMID:35443031|PMID:35671390|PMID:36322930|PMID:37199125|PMID:37216690|PMID:37434984|PMID:37506341|PMID:37665752
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:4961	bone marrow disease		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:25741868|PMID:28492532|PMID:31484648|PMID:32054657|PMID:35443031|PMID:36347925|PMID:36923434|PMID:37199125|PMID:37665752
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:5041	esophageal cancer		ISO	RGD:1323380	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:630	genetic disease		ISO	RGD:1323380	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17576681|PMID:25741868|PMID:25920683|PMID:26712909|PMID:26944477|PMID:27133828|PMID:27174803|PMID:27795557|PMID:28492532|PMID:28547672|PMID:29146883|PMID:30407884|PMID:30963592|PMID:31256854|PMID:31470354|PMID:31484648|PMID:31713024|PMID:32047491|PMID:32054657|PMID:32307695|PMID:33332384|PMID:33533142|PMID:33585199|PMID:33626862|PMID:33850299|PMID:33929502|PMID:34473945|PMID:34482403|PMID:34492705|PMID:34644397|PMID:34671111|PMID:34916496|PMID:35443031|PMID:35613581|PMID:35671390|PMID:35844724|PMID:36112138|PMID:36229594|PMID:36322930|PMID:36347925|PMID:36455200|PMID:36542832|PMID:36923434|PMID:37144604|PMID:37154083|PMID:37199125|PMID:37216690|PMID:37406166|PMID:37434984|PMID:37450374|PMID:37506341|PMID:37665752|PMID:37705260|PMID:37710381|PMID:37874914|PMID:38016923|PMID:38492200|PMID:38514771|PMID:39453476|PMID:9536098
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:9000300	Refractory Anemia		ISO	RGD:1323380	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Refractory anemia	PMID:25741868
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:9000647	Acute Erythroleukemia		ISO	RGD:1323380	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30926971
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323380	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25741868
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:9007661	Dwarfism		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:31484648|PMID:32054657|PMID:35443031|PMID:36347925|PMID:36923434
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311758	Ddx41	DEAD-box helicase 41	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Inherited acute myeloid leukemia	PMID:25741868|PMID:26712909|PMID:27133828|PMID:28492532|PMID:30963592|PMID:32307695|PMID:34482403|PMID:34644397|PMID:35443031|PMID:35671390|PMID:37199125|PMID:37874914
1311760	Rragc	Ras-related GTP binding C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311760	Rragc	Ras-related GTP binding C	gene	DOID:0050873	follicular lymphoma		ISO	RGD:1323384	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26691987
1311760	Rragc	Ras-related GTP binding C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311760	Rragc	Ras-related GTP binding C	gene	DOID:3275	thymoma		ISO	RGD:1323384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311760	Rragc	Ras-related GTP binding C	gene	DOID:4362	cervical cancer		ISO	RGD:1323384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311760	Rragc	Ras-related GTP binding C	gene	DOID:5041	esophageal cancer		ISO	RGD:1323384	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311760	Rragc	Ras-related GTP binding C	gene	DOID:630	genetic disease		ISO	RGD:1323384	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311760	Rragc	Ras-related GTP binding C	gene	DOID:9005710	LONG-OLSEN-DISTELMAIER SYNDROME		ISO	RGD:1323384	D	RGD:7240710	20240410	OMIM			
1311760	Rragc	Ras-related GTP binding C	gene	DOID:9005710	LONG-OLSEN-DISTELMAIER SYNDROME		ISO	RGD:1323384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LONG-OLSEN-DISTELMAIER SYNDROME	PMID:25741868
1311760	Rragc	Ras-related GTP binding C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311763	Arrdc4	arrestin domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311763	Arrdc4	arrestin domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311763	Arrdc4	arrestin domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311763	Arrdc4	arrestin domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311763	Arrdc4	arrestin domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1323388	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311763	Arrdc4	arrestin domain containing 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311763	Arrdc4	arrestin domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311763	Arrdc4	arrestin domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311763	Arrdc4	arrestin domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311764	Cpa6	carboxypeptidase A6	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:11643548	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant	PMID:21922598|PMID:23105115|PMID:25401298|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362|PMID:34531397|PMID:37541188|PMID:38088023
1311764	Cpa6	carboxypeptidase A6	gene	DOID:0060752	familial temporal lobe epilepsy 5		ISO	RGD:1323390	D	RGD:7240710	20140911	OMIM			
1311764	Cpa6	carboxypeptidase A6	gene	DOID:0060752	familial temporal lobe epilepsy 5		ISO	RGD:1323390	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 | ClinVar Annotator: match by term: Familial temporal lobe epilepsy 5	PMID:25741868|PMID:28492532
1311764	Cpa6	carboxypeptidase A6	gene	DOID:0111308	familial febrile seizures 11		ISO	RGD:1323390	D	RGD:7240710	20140911	OMIM			
1311764	Cpa6	carboxypeptidase A6	gene	DOID:0111308	familial febrile seizures 11		ISO	RGD:1323390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Febrile seizures, familial, 11	PMID:16199547|PMID:17576681|PMID:23105115|PMID:25741868|PMID:25875328|PMID:28492532|PMID:9536098
1311764	Cpa6	carboxypeptidase A6	gene	DOID:10283	prostate cancer		ISO	RGD:1323390	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1311764	Cpa6	carboxypeptidase A6	gene	DOID:1059	intellectual disability		ISO	RGD:1323390	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:21922598|PMID:23105115|PMID:25741868|PMID:28492532|PMID:29358611
1311764	Cpa6	carboxypeptidase A6	gene	DOID:1059	intellectual disability		ISO	RGD:1323390	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:25741868|PMID:28492532|PMID:29358611
1311764	Cpa6	carboxypeptidase A6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311764	Cpa6	carboxypeptidase A6	gene	DOID:1826	epilepsy		ISO	RGD:1323390	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: epilepsy	PMID:23105115|PMID:25401298|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:29180823|PMID:29358611|PMID:32581362|PMID:34531397|PMID:37541188|PMID:38088023
1311764	Cpa6	carboxypeptidase A6	gene	DOID:4362	cervical cancer		ISO	RGD:1323390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311764	Cpa6	carboxypeptidase A6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311765	Prdm1	PR/SET domain 1	gene	DOID:0050745	diffuse large B-cell lymphoma	disease_progression	ISO	RGD:1323391	D	RGD:150530470|PMID:22321048	20211209	RGD			
1311765	Prdm1	PR/SET domain 1	gene	DOID:0060058	lymphoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311765	Prdm1	PR/SET domain 1	gene	DOID:0080600	COVID-19		ISO	RGD:1323391	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311765	Prdm1	PR/SET domain 1	gene	DOID:0080797	nasal type extranodal NK/T-cell lymphoma	disease_progression	ISO	RGD:1323391	D	RGD:150530467|PMID:24438193	20211209	RGD			
1311765	Prdm1	PR/SET domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311765	Prdm1	PR/SET domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311765	Prdm1	PR/SET domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1323391	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311765	Prdm1	PR/SET domain 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1323391	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097067
1311765	Prdm1	PR/SET domain 1	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1323391	D	RGD:150530469|PMID:28378641	20211209	RGD			
1311765	Prdm1	PR/SET domain 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1311765	Prdm1	PR/SET domain 1	gene	DOID:1909	melanoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311765	Prdm1	PR/SET domain 1	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
1311765	Prdm1	PR/SET domain 1	gene	DOID:3275	thymoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311765	Prdm1	PR/SET domain 1	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1323391	D	RGD:150530469|PMID:28378641	20211209	RGD			
1311765	Prdm1	PR/SET domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311765	Prdm1	PR/SET domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311765	Prdm1	PR/SET domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:27993330
1311765	Prdm1	PR/SET domain 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1323391	D	RGD:150530465|PMID:31100710	20211209	RGD		associated with hepatitis B;	
1311765	Prdm1	PR/SET domain 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1323391	D	RGD:150530466|PMID:31376415	20211209	RGD		associated with hepatitis B;DNA:SNP: :rs1010273(human)	
1311765	Prdm1	PR/SET domain 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1323391	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:19898481|PMID:20453842|PMID:23143596|PMID:36181686
1311765	Prdm1	PR/SET domain 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:1323391	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297633
1311765	Prdm1	PR/SET domain 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1323391	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: therapeutic	PMID:36181686
1311765	Prdm1	PR/SET domain 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311765	Prdm1	PR/SET domain 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1323391	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: therapeutic	PMID:33109608
1311765	Prdm1	PR/SET domain 1	gene	DOID:9008163	Chronic Hepatitis B	disease_progression	ISO	RGD:1323391	D	RGD:150530465|PMID:31100710	20211209	RGD			
1311765	Prdm1	PR/SET domain 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323391	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838195
1311765	Prdm1	PR/SET domain 1	gene	DOID:9074	systemic lupus erythematosus		ISS	RGD:1323392	D	RGD:13592920	20230718	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
1311765	Prdm1	PR/SET domain 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1323391	D	RGD:150530478|PMID:32393998	20211210	RGD		mRNA:increased expression:colorectum:	
1311766	Cdc73	cell division cycle 73	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311766	Cdc73	cell division cycle 73	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1323393	D	RGD:150537040|PMID:24257751	20211221	RGD		mRNA:altered expression: tongue, oral cavity (human)	
1311766	Cdc73	cell division cycle 73	gene	DOID:10017	multiple endocrine neoplasia type 1		ISO	RGD:1323393	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1	PMID:25741868
1311766	Cdc73	cell division cycle 73	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1323393	D	RGD:9068941	20211231	RGD		mRNA:increased expression:mucosa of stomach (human)	PMID:29221126|REF_RGD_ID:150539444
1311766	Cdc73	cell division cycle 73	gene	DOID:1115	sarcoma		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311766	Cdc73	cell division cycle 73	gene	DOID:1324	lung cancer	exacerbates	ISO	RGD:1323393	D	RGD:9068941	20211231	RGD		mRNA:increased expression:lung (human)	PMID:29221126|REF_RGD_ID:150539444
1311766	Cdc73	cell division cycle 73	gene	DOID:13543	hyperparathyroidism		ISO	RGD:1555621	D	RGD:1599666|PMID:12434154	20070209	RGD		Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary, OMIM:145001	
1311766	Cdc73	cell division cycle 73	gene	DOID:13543	hyperparathyroidism		ISS	RGD:1614198	D	RGD:13592920	20180518	MouseDO		OMIM:145000 | OMIM:145001 | OMIM:610071	
1311766	Cdc73	cell division cycle 73	gene	DOID:1540	parathyroid carcinoma		ISO	RGD:1323393	D	RGD:7240710	20190315	OMIM			
1311766	Cdc73	cell division cycle 73	gene	DOID:1540	parathyroid carcinoma		ISO	RGD:1323393	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: PARATHYROID CARCINOMA | ClinVar Annotator: match by term: PARATHYROID CARCINOMA, SOMATIC | ClinVar Annotator: match by term: Parathyroid carcinoma	PMID:12434154|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17314275|PMID:17468190|PMID:17576681|PMID:18755853|PMID:19017757|PMID:19092296|PMID:19332451|PMID:20052758|PMID:20304979|PMID:20979880|PMID:21360064|PMID:21652691|PMID:21732217|PMID:22187299|PMID:22987117|PMID:23029104|PMID:23293331|PMID:23757631|PMID:24121387|PMID:24340015|PMID:24716902|PMID:24728327|PMID:24823466|PMID:25388829|PMID:25444225|PMID:25640679|PMID:25741868|PMID:25959515|PMID:26121439|PMID:26580448|PMID:26650250|PMID:27507909|PMID:28394026|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29142233|PMID:29225260|PMID:29324469|PMID:29641532|PMID:29755684|PMID:30452964|PMID:30885698|PMID:32590342|PMID:32761341|PMID:33150274|PMID:37339334|PMID:37449924|PMID:39044678|PMID:39677927|PMID:41497294|PMID:9536098
1311766	Cdc73	cell division cycle 73	gene	DOID:1540	parathyroid carcinoma	disease_progression	ISO	RGD:1323393	D	RGD:150539446|PMID:27490759	20211228	RGD		protein:decreased expression:parathyroid gland (human)	
1311766	Cdc73	cell division cycle 73	gene	DOID:1558	angioedema		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angioedema	PMID:12434154
1311766	Cdc73	cell division cycle 73	gene	DOID:1612	breast cancer	exacerbates	ISO	RGD:1323393	D	RGD:9068941	20211231	RGD		mRNA:increased expression:breast (human)	PMID:29221126|REF_RGD_ID:150539444
1311766	Cdc73	cell division cycle 73	gene	DOID:180	ossifying fibroma		ISO	RGD:1323393	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ossifying fibroma of the jaw	
1311766	Cdc73	cell division cycle 73	gene	DOID:2394	ovarian cancer	severity	ISO	RGD:1323393	D	RGD:9068941	20211231	RGD		mRNA:increased expression:ovary (human)	PMID:29221126|REF_RGD_ID:150539444
1311766	Cdc73	cell division cycle 73	gene	DOID:2876	laryngeal squamous cell carcinoma	disease_progression	ISO	RGD:1323393	D	RGD:150539447|PMID:27334641	20211228	RGD		protein:decreased expression:larynx (human)	
1311766	Cdc73	cell division cycle 73	gene	DOID:3275	thymoma		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311766	Cdc73	cell division cycle 73	gene	DOID:3717	gastric adenocarcinoma	exacerbates	ISO	RGD:1323393	D	RGD:9068941	20211231	RGD		protein:decreased expression:stomach (human)	PMID:18080135|REF_RGD_ID:150539445
1311766	Cdc73	cell division cycle 73	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1323393	D	RGD:150537041|PMID:21692036	20211221	RGD		mRNA:decreased expression:lung (human)	
1311766	Cdc73	cell division cycle 73	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311766	Cdc73	cell division cycle 73	gene	DOID:4362	cervical cancer		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311766	Cdc73	cell division cycle 73	gene	DOID:5520	head and neck squamous cell carcinoma	exacerbates	ISO	RGD:1323393	D	RGD:11065919|PMID:26124004	20211221	RGD		protein:increased expression:squamous epithelium (human)	
1311766	Cdc73	cell division cycle 73	gene	DOID:576	proteinuria		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868|PMID:28492532
1311766	Cdc73	cell division cycle 73	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311766	Cdc73	cell division cycle 73	gene	DOID:7608	parathyroid adenoma		ISO	RGD:1323393	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Parathyroid adenoma, somatic	PMID:12434154|PMID:15531515|PMID:16061557|PMID:16199547|PMID:25741868|PMID:28492532
1311766	Cdc73	cell division cycle 73	gene	DOID:9002327	Hyperparathyroidism 2		ISO	RGD:1323393	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311766	Cdc73	cell division cycle 73	gene	DOID:9002327	Hyperparathyroidism 2		ISO	RGD:1323393	D	RGD:7240710	20190315	OMIM			
1311766	Cdc73	cell division cycle 73	gene	DOID:9002327	Hyperparathyroidism 2		ISO	RGD:1323393	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CYSTIC PARATHYROID ADENOMA, SOMATIC | ClinVar Annotator: match by term: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME | ClinVar Annotator: match by term: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors | ClinVar Annotator: match by term: Hyperparathyroidism-jaw tumor syndrome	PMID:12434154|PMID:14585940|PMID:15070940|PMID:15531515|PMID:16061557|PMID:16199547|PMID:17468190|PMID:18755853|PMID:20052758|PMID:20301744|PMID:20979880|PMID:21360064|PMID:21732217|PMID:22987117|PMID:23029104|PMID:23293331|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25637381|PMID:25741868|PMID:26121439|PMID:28492532|PMID:28833384|PMID:28881068|PMID:29040582|PMID:29324469|PMID:29641532|PMID:30452964|PMID:32590342|PMID:39044678|PMID:41497294
1311766	Cdc73	cell division cycle 73	gene	DOID:9004331	Parathyroid Neoplasms		ISO	RGD:1323393	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	
1311766	Cdc73	cell division cycle 73	gene	DOID:9004331	Parathyroid Neoplasms		ISO	RGD:1555621	D	RGD:1599665|PMID:14585940	20070209	RGD			
1311766	Cdc73	cell division cycle 73	gene	DOID:9006675	Hyperparathyroidism 1		ISO	RGD:1323393	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311766	Cdc73	cell division cycle 73	gene	DOID:9006675	Hyperparathyroidism 1		ISO	RGD:1323393	D	RGD:7240710	20190315	OMIM			
1311766	Cdc73	cell division cycle 73	gene	DOID:9006675	Hyperparathyroidism 1		ISO	RGD:1323393	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: HYPERPARATHYROIDISM 1 | ClinVar Annotator: match by term: HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY | ClinVar Annotator: match by term: Hyperparathyroidism 1	PMID:12434154|PMID:14585940|PMID:14985403|PMID:15531515|PMID:15580289|PMID:15632063|PMID:16061557|PMID:16199547|PMID:16817812|PMID:17468190|PMID:19017757|PMID:20052758|PMID:20979880|PMID:21360064|PMID:22987117|PMID:23029104|PMID:23293331|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:26121439|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29324469|PMID:29641532|PMID:36780067|PMID:39044678|PMID:41497294
1311766	Cdc73	cell division cycle 73	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311766	Cdc73	cell division cycle 73	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323393	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:12960210|PMID:14985403|PMID:17065424|PMID:19332451|PMID:20052758|PMID:25741868|PMID:28166811|PMID:28492532
1311766	Cdc73	cell division cycle 73	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323393	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12434154|PMID:12960210|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17065424|PMID:17468190|PMID:17576681|PMID:19332451|PMID:20052758|PMID:20979880|PMID:22703879|PMID:22987117|PMID:23029104|PMID:23293331|PMID:23709761|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:26121439|PMID:26580448|PMID:27679651|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29225260|PMID:29324469|PMID:29641532|PMID:30262796|PMID:32590342|PMID:33332384|PMID:9536098
1311766	Cdc73	cell division cycle 73	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323393	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12434154|PMID:12960210|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17065424|PMID:17468190|PMID:17576681|PMID:19332451|PMID:20052758|PMID:20979880|PMID:21360064|PMID:21732217|PMID:22703879|PMID:22987117|PMID:23029104|PMID:23293331|PMID:23709761|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:26121439|PMID:26580448|PMID:27679651|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29225260|PMID:29324469|PMID:29641532|PMID:30262796|PMID:32590342|PMID:33332384|PMID:9536098
1311766	Cdc73	cell division cycle 73	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323393	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12434154|PMID:12960210|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17065424|PMID:17468190|PMID:17576681|PMID:19332451|PMID:20052758|PMID:20304979|PMID:20979880|PMID:21360064|PMID:21732217|PMID:22187299|PMID:22703879|PMID:22987117|PMID:23029104|PMID:23293331|PMID:23709761|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:25959515|PMID:26121439|PMID:26580448|PMID:27679651|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29225260|PMID:29324469|PMID:29641532|PMID:30262796|PMID:32590342|PMID:33332384|PMID:9536098
1311766	Cdc73	cell division cycle 73	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12434154|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:17468190|PMID:17576681|PMID:18436011|PMID:19332451|PMID:20052758|PMID:20304979|PMID:20979880|PMID:21360064|PMID:21732217|PMID:22302605|PMID:22987117|PMID:23029104|PMID:23293331|PMID:23709761|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:26121439|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29225260|PMID:29324469|PMID:29641532|PMID:32590342|PMID:39677927|PMID:9536098
1311766	Cdc73	cell division cycle 73	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323393	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12434154|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:17468190|PMID:17576681|PMID:18436011|PMID:19332451|PMID:20052758|PMID:20304979|PMID:20979880|PMID:21360064|PMID:21732217|PMID:22302605|PMID:22987117|PMID:23029104|PMID:23293331|PMID:23709761|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:26121439|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29225260|PMID:29324469|PMID:29641532|PMID:32590342|PMID:39044678|PMID:39677927|PMID:41497294|PMID:9536098
1311766	Cdc73	cell division cycle 73	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311766	Cdc73	cell division cycle 73	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311766	Cdc73	cell division cycle 73	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1323393	D	RGD:150539448|PMID:21315421	20211228	RGD		mRNA:increased expression:colorectum (human)	
1311767	Dtx4	deltex E3 ubiquitin ligase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311767	Dtx4	deltex E3 ubiquitin ligase 4	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1323395	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1311767	Dtx4	deltex E3 ubiquitin ligase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1323395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311767	Dtx4	deltex E3 ubiquitin ligase 4	gene	DOID:1324	lung cancer		ISO	RGD:1323395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311767	Dtx4	deltex E3 ubiquitin ligase 4	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1323395	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208345
1311767	Dtx4	deltex E3 ubiquitin ligase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1323395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311767	Dtx4	deltex E3 ubiquitin ligase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311767	Dtx4	deltex E3 ubiquitin ligase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311767	Dtx4	deltex E3 ubiquitin ligase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311770	Foxj3	forkhead box J3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311770	Foxj3	forkhead box J3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311770	Foxj3	forkhead box J3	gene	DOID:10534	stomach cancer		ISO	RGD:1323400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311770	Foxj3	forkhead box J3	gene	DOID:1115	sarcoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311770	Foxj3	forkhead box J3	gene	DOID:3070	high grade glioma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311770	Foxj3	forkhead box J3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311770	Foxj3	forkhead box J3	gene	DOID:4362	cervical cancer		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311770	Foxj3	forkhead box J3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323400	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311770	Foxj3	forkhead box J3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311770	Foxj3	forkhead box J3	gene	DOID:6039	uveal melanoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311770	Foxj3	forkhead box J3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311770	Foxj3	forkhead box J3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311770	Foxj3	forkhead box J3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311770	Foxj3	forkhead box J3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311771	Commd1	copper metabolism domain containing 1	gene	DOID:1205	allergic disease		ISO	RGD:1323402	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22216203
1311771	Commd1	copper metabolism domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311771	Commd1	copper metabolism domain containing 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1323402	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17919502
1311771	Commd1	copper metabolism domain containing 1	gene	DOID:893	Wilson disease		ISO	RGD:12302435	D	RGD:9068941	20240725	OMIA		Copper toxicosis, COMMD1-related	PMID:10384054|PMID:10442980|PMID:10585777|PMID:10772489|PMID:10803990|PMID:10818210|PMID:10901220|PMID:11234968|PMID:11393371|PMID:11809725|PMID:12450209|PMID:12547404|PMID:12648098|PMID:12816967|PMID:12925897|PMID:1380748|PMID:14568250|PMID:15028882|PMID:15205742|PMID:15566097|PMID:16293123|PMID:16649058|PMID:16868807|PMID:17099181|PMID:17355395|PMID:17572118|PMID:18305350|PMID:22029820|PMID:22879914|PMID:24758744|PMID:31179308|PMID:31504675|PMID:31557851|PMID:32053895|PMID:33129558|PMID:3343179|PMID:33668783|PMID:37038639|PMID:37594835|PMID:37741465|PMID:38682427|PMID:6639527|PMID:6710813|PMID:6869968|PMID:6939891|PMID:7065120|PMID:7114265|PMID:7212417|PMID:8432554|PMID:8989491|PMID:9587195|PMID:9949209
1311771	Commd1	copper metabolism domain containing 1	gene	DOID:9006395	Copper-Overload Cirrhosis		ISO	RGD:1323402	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
1311771	Commd1	copper metabolism domain containing 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1323402	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583003
1311771	Commd1	copper metabolism domain containing 1	gene	DOID:9006855	Dog Diseases		ISO	RGD:1323402	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17919502
1311771	Commd1	copper metabolism domain containing 1	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:1323402	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914|PMID:25053573
1311772	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311772	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:0111281	psoriasis 15		ISO	RGD:1323403	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AP1S3-related condition	PMID:25741868
1311772	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:0111281	psoriasis 15	susceptibility	ISO	RGD:1323403	D	RGD:7240710	20190904	OMIM			
1311772	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:1115	sarcoma		ISO	RGD:1323403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311772	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311772	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311772	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:8893	psoriasis		ISO	RGD:1323403	D	RGD:11554173	20190514	CTD		CTD Direct Evidence: marker/mechanism	
1311772	Ap1s3	adaptor related protein complex 1 subunit sigma 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:0060058	lymphoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602728	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1602728	D	RGD:11554173	20201012	CTD		CTD Direct Evidence: marker/mechanism	PMID:32659284
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311773	Mical2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311774	Btf3l4	basic transcription factor 3-like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311774	Btf3l4	basic transcription factor 3-like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311774	Btf3l4	basic transcription factor 3-like 4	gene	DOID:3275	thymoma		ISO	RGD:1605903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311774	Btf3l4	basic transcription factor 3-like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311774	Btf3l4	basic transcription factor 3-like 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311774	Btf3l4	basic transcription factor 3-like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311774	Btf3l4	basic transcription factor 3-like 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311774	Btf3l4	basic transcription factor 3-like 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311777	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311777	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311777	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:1324	lung cancer		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311777	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:1909	melanoma		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311777	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:3275	thymoma		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311777	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:4362	cervical cancer		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311777	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311777	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311777	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311777	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311777	Mrpl4	mitochondrial ribosomal protein L4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311778	Crnn	cornulin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311778	Crnn	cornulin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:1115	sarcoma		ISO	RGD:1323411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:1324	lung cancer		ISO	RGD:1323411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:1909	melanoma		ISO	RGD:1323411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:3275	thymoma		ISO	RGD:1323411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:3454	brain infarction		IEP		D	RGD:329845556|PMID:23251410	20230526	RGD		mRNA:increased expression:brain (rat)	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323411	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323411	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:9000097	Skin/Hair/Eye Pigmentation, Variation In, 10		ISO	RGD:1323411	D	RGD:7240710	20210818	OMIM			
1311779	Tpcn2	two pore segment channel 2	gene	DOID:9000097	Skin/Hair/Eye Pigmentation, Variation In, 10		ISO	RGD:1323411	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10	PMID:25741868|PMID:36641477
1311779	Tpcn2	two pore segment channel 2	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1323411	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1311779	Tpcn2	two pore segment channel 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311779	Tpcn2	two pore segment channel 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
1311781	Casp14	caspase 14	gene	DOID:4362	cervical cancer		ISO	RGD:1323414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311781	Casp14	caspase 14	gene	DOID:9001703	Autosomal Recessive Congenital Ichthyosis 12		ISO	RGD:1323414	D	RGD:7240710	20190315	OMIM			
1311781	Casp14	caspase 14	gene	DOID:9001703	Autosomal Recessive Congenital Ichthyosis 12		ISO	RGD:1323414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12	PMID:25741868
1311782	Dsc3	desmocollin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311782	Dsc3	desmocollin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311782	Dsc3	desmocollin 3	gene	DOID:1059	intellectual disability		ISO	RGD:1323416	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Recessive	
1311782	Dsc3	desmocollin 3	gene	DOID:1115	sarcoma		ISO	RGD:1323416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311782	Dsc3	desmocollin 3	gene	DOID:1909	melanoma		ISO	RGD:1323416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311782	Dsc3	desmocollin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1323416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311782	Dsc3	desmocollin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323416	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311782	Dsc3	desmocollin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311782	Dsc3	desmocollin 3	gene	DOID:9000225	Hypotrichosis and Recurrent Skin Vesicles		ISO	RGD:1323416	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311782	Dsc3	desmocollin 3	gene	DOID:9000225	Hypotrichosis and Recurrent Skin Vesicles		ISO	RGD:1323416	D	RGD:7240710	20150610	OMIM			
1311782	Dsc3	desmocollin 3	gene	DOID:9000225	Hypotrichosis and Recurrent Skin Vesicles		ISO	RGD:1323416	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DSC3-related condition | ClinVar Annotator: match by term: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | ClinVar Annotator: match by term: Hereditary hypotrichosis with recurrent skin vesicles	PMID:25741868
1311782	Dsc3	desmocollin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311782	Dsc3	desmocollin 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323416	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16799634
1311782	Dsc3	desmocollin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311783	Borcs7	BLOC-1 related complex subunit 7	gene	DOID:2367	neuroaxonal dystrophy		ISS	RGD:1623226	D	RGD:13592920	20190523	MouseDO			
1311783	Borcs7	BLOC-1 related complex subunit 7	gene	DOID:2476	hereditary spastic paraplegia		ISS	RGD:1623226	D	RGD:13592920	20190523	MouseDO			
1311783	Borcs7	BLOC-1 related complex subunit 7	gene	DOID:5419	schizophrenia		ISO	RGD:1323417	D	RGD:11554173	20220705	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158905
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:0050742	nicotine dependence		ISO	RGD:1603019	D	RGD:11554173	20241105	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1603019	D	RGD:9068941	20231102	RGD		DNA:SNP:: (rs1062935) (human)	PMID:18438686|REF_RGD_ID:401851917
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:0060058	lymphoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:1115	sarcoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:1324	lung cancer		ISO	RGD:1603019	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:1909	melanoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:3275	thymoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603019	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:9009121	lung metastasis		ISO	RGD:1323418	D	RGD:152995516|PMID:29809146	20220628	RGD			
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311784	Rptor	regulatory associated protein of MTOR, complex 1	gene	DOID:9923	developmental coordination disorder		ISO	RGD:1603019	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: therapeutic	PMID:32773031
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868|PMID:27215383|PMID:28492532|PMID:32573669
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1604612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: NADH:Q(1) OXIDOREDUCTASE DEFICIENCY	PMID:22200994|PMID:25741868|PMID:25803036|PMID:28492532
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A		ISO	RGD:1604612	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A	PMID:25326637|PMID:25741868|PMID:28492532
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1604612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:22200994|PMID:25741868|PMID:25803036|PMID:28492532|PMID:36307859
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:0112085	nuclear type mitochondrial complex I deficiency 19		ISO	RGD:1604612	D	RGD:7240710	20190315	OMIM			
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:0112085	nuclear type mitochondrial complex I deficiency 19		ISO	RGD:1604612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FOXRED1-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 19	PMID:16199547|PMID:20818383|PMID:20858599|PMID:22200994|PMID:25678554|PMID:25741868|PMID:25803036|PMID:28097321|PMID:28492532|PMID:30723688|PMID:31065540|PMID:31434271|PMID:32964447|PMID:33613441|PMID:33726816
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:16199547|PMID:20818383|PMID:20858599|PMID:25741868|PMID:28492532|PMID:32573669
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:1826	epilepsy		ISO	RGD:1604612	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20818383|PMID:20858599|PMID:22200994|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:3144	cutis laxa		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:22200994|PMID:25741868|PMID:28492532
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:3650	lactic acidosis		ISO	RGD:1604612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:16199547|PMID:20818383|PMID:20858599|PMID:25741868|PMID:28492532|PMID:31434271
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:3652	Leigh disease		ISO	RGD:1604612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy	PMID:20818383|PMID:20858599|PMID:25678554|PMID:25741868|PMID:25803036|PMID:28492532|PMID:30723688
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604612	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1604612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20818383|PMID:20858599|PMID:25741868|PMID:28097321|PMID:28492532|PMID:30723688|PMID:31065540|PMID:32964447|PMID:33726816
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1604612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20818383
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1604612	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:1604612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20858599
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Miscarriage	PMID:22200994|PMID:25741868|PMID:28492532
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:22200994|PMID:25741868|PMID:28492532
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604612	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:20818383|PMID:20858599|PMID:22200994|PMID:25741868|PMID:28492532|PMID:31434271
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:9006465	Meconium Ileus		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meconium ileus	PMID:22200994|PMID:25741868|PMID:28492532
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:9007385	Mitochondrial Encephalopathy		ISO	RGD:1604612	D	RGD:8554872	20210209	ClinVar		ClinVar Annotator: match by term: mitochondrial encephalopathy	PMID:25741868
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604612	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:22200994|PMID:25741868|PMID:28492532
1311785	Foxred1	FAD-dependent oxidoreductase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311786	Usp6nl	USP6 N-terminal like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311786	Usp6nl	USP6 N-terminal like	gene	DOID:10534	stomach cancer		ISO	RGD:1323420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311786	Usp6nl	USP6 N-terminal like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311786	Usp6nl	USP6 N-terminal like	gene	DOID:1115	sarcoma		ISO	RGD:1323420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311786	Usp6nl	USP6 N-terminal like	gene	DOID:1324	lung cancer		ISO	RGD:1323420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1311786	Usp6nl	USP6 N-terminal like	gene	DOID:1909	melanoma		ISO	RGD:1323420	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1311786	Usp6nl	USP6 N-terminal like	gene	DOID:1909	melanoma		ISO	RGD:1323420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311786	Usp6nl	USP6 N-terminal like	gene	DOID:4362	cervical cancer		ISO	RGD:1323420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311786	Usp6nl	USP6 N-terminal like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311786	Usp6nl	USP6 N-terminal like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311786	Usp6nl	USP6 N-terminal like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311786	Usp6nl	USP6 N-terminal like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311786	Usp6nl	USP6 N-terminal like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311787	Mysm1	myb-like, SWIRM and MPN domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1311787	Mysm1	myb-like, SWIRM and MPN domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1602839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311787	Mysm1	myb-like, SWIRM and MPN domains 1	gene	DOID:1909	melanoma		ISO	RGD:1602839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311787	Mysm1	myb-like, SWIRM and MPN domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311787	Mysm1	myb-like, SWIRM and MPN domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311787	Mysm1	myb-like, SWIRM and MPN domains 1	gene	DOID:614	lymphopenia		ISO	RGD:1551048	D	RGD:9589161|PMID:22184403	20141110	RGD			
1311787	Mysm1	myb-like, SWIRM and MPN domains 1	gene	DOID:630	genetic disease		ISO	RGD:1602839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311787	Mysm1	myb-like, SWIRM and MPN domains 1	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:1602839	D	RGD:9589162|PMID:21310492	20141110	RGD		associated with Diabetes Mellitus, Type 2;DNA:snps:introns: IVS1-1269C>T, IVS6+1700G>A (rs2811893, rs12092121) (human)	
1311787	Mysm1	myb-like, SWIRM and MPN domains 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311787	Mysm1	myb-like, SWIRM and MPN domains 1	gene	DOID:9006327	Bone Marrow Failure Syndrome 4		ISO	RGD:1602839	D	RGD:7240710	20190315	OMIM			
1311787	Mysm1	myb-like, SWIRM and MPN domains 1	gene	DOID:9006327	Bone Marrow Failure Syndrome 4		ISO	RGD:1602839	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 4 | ClinVar Annotator: match by term: Bone marrow failure syndrome 4 | ClinVar Annotator: match by term: MYSM1-related condition	PMID:16199547|PMID:17576681|PMID:24288411|PMID:25741868|PMID:28115216|PMID:28492532|PMID:32640305|PMID:33858043|PMID:35776903|PMID:9536098
1311787	Mysm1	myb-like, SWIRM and MPN domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311787	Mysm1	myb-like, SWIRM and MPN domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311787	Mysm1	myb-like, SWIRM and MPN domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1311788	Tspan13	tetraspanin 13	gene	DOID:1324	lung cancer		ISO	RGD:1323423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311788	Tspan13	tetraspanin 13	gene	DOID:4362	cervical cancer		ISO	RGD:1323423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311788	Tspan13	tetraspanin 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311790	R3hcc1	R3H domain and coiled-coil containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311790	R3hcc1	R3H domain and coiled-coil containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1603166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311790	R3hcc1	R3H domain and coiled-coil containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603166	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311790	R3hcc1	R3H domain and coiled-coil containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311790	R3hcc1	R3H domain and coiled-coil containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311791	Arpc5	actin related protein 2/3 complex, subunit 5	gene	DOID:0050328	congenital hypothyroidism		IEP		D	RGD:11049475|PMID:23459330	20160405	RGD		protein:decreased expression:frontal cortex (rat)	
1311791	Arpc5	actin related protein 2/3 complex, subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311791	Arpc5	actin related protein 2/3 complex, subunit 5	gene	DOID:0051056	immunodeficiency 113		ISO	RGD:1323427	D	RGD:7240710	20250903	OMIM			
1311791	Arpc5	actin related protein 2/3 complex, subunit 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323427	D	RGD:11049488|PMID:22089643	20170201	RGD		mRNA:increased expression:lung (human)	
1311791	Arpc5	actin related protein 2/3 complex, subunit 5	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1323427	D	RGD:11049488|PMID:22089643	20160406	RGD		mRNA:increased expression:lung (human)	
1311791	Arpc5	actin related protein 2/3 complex, subunit 5	gene	DOID:630	genetic disease		ISO	RGD:1323427	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311791	Arpc5	actin related protein 2/3 complex, subunit 5	gene	DOID:9008286	Experimental Autoimmune Myasthenia Gravis	treatment	IEP		D	RGD:11049469|PMID:17997938	20160405	RGD			
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:0081234	autosomal recessive intellectual developmental disorder 75		ISO	RGD:1323429	D	RGD:7240710	20220427	OMIM			
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:0081234	autosomal recessive intellectual developmental disorder 75		ISO	RGD:1323429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | ClinVar Annotator: match by term: PIDD1-associated neurodevelopmental disorder | ClinVar Annotator: match by term: PIDD1-related condition	PMID:16199547|PMID:25741868|PMID:28397838|PMID:28492532|PMID:29302074|PMID:34163010
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1323429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:1909	melanoma		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:3275	thymoma		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323429	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1323429	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20208132
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323429	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:630	genetic disease		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311792	Pidd1	p53-induced death domain protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311793	Prag1	PEAK1 related kinase activating pseudokinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311793	Prag1	PEAK1 related kinase activating pseudokinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311793	Prag1	PEAK1 related kinase activating pseudokinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311793	Prag1	PEAK1 related kinase activating pseudokinase 1	gene	DOID:1115	sarcoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311793	Prag1	PEAK1 related kinase activating pseudokinase 1	gene	DOID:1324	lung cancer		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311793	Prag1	PEAK1 related kinase activating pseudokinase 1	gene	DOID:1909	melanoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311793	Prag1	PEAK1 related kinase activating pseudokinase 1	gene	DOID:3070	high grade glioma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311793	Prag1	PEAK1 related kinase activating pseudokinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311793	Prag1	PEAK1 related kinase activating pseudokinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:11554295	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311793	Prag1	PEAK1 related kinase activating pseudokinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311793	Prag1	PEAK1 related kinase activating pseudokinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311793	Prag1	PEAK1 related kinase activating pseudokinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311793	Prag1	PEAK1 related kinase activating pseudokinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311794	Abi3	ABI family, member 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1323432	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28714976
1311794	Abi3	ABI family, member 3	gene	DOID:1324	lung cancer		ISO	RGD:1323432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311794	Abi3	ABI family, member 3	gene	DOID:1909	melanoma		ISO	RGD:1323432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311794	Abi3	ABI family, member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311794	Abi3	ABI family, member 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311794	Abi3	ABI family, member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1323432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311794	Abi3	ABI family, member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311794	Abi3	ABI family, member 3	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1323432	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1311794	Abi3	ABI family, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311796	Gadd45g	growth arrest and DNA-damage-inducible, gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311796	Gadd45g	growth arrest and DNA-damage-inducible, gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311796	Gadd45g	growth arrest and DNA-damage-inducible, gamma	gene	DOID:0060058	lymphoma		ISO	RGD:1323436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311796	Gadd45g	growth arrest and DNA-damage-inducible, gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1323436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311796	Gadd45g	growth arrest and DNA-damage-inducible, gamma	gene	DOID:1324	lung cancer		ISO	RGD:1323436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311796	Gadd45g	growth arrest and DNA-damage-inducible, gamma	gene	DOID:4362	cervical cancer		ISO	RGD:1323436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311796	Gadd45g	growth arrest and DNA-damage-inducible, gamma	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311796	Gadd45g	growth arrest and DNA-damage-inducible, gamma	gene	DOID:4783	mesangial proliferative glomerulonephritis		IEP		D	RGD:14700866|PMID:16736195	20190821	RGD		mRNA,protein:increased expression:kidney	
1311796	Gadd45g	growth arrest and DNA-damage-inducible, gamma	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311796	Gadd45g	growth arrest and DNA-damage-inducible, gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311796	Gadd45g	growth arrest and DNA-damage-inducible, gamma	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311796	Gadd45g	growth arrest and DNA-damage-inducible, gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311799	Fermt2	FERM domain containing kindlin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311799	Fermt2	FERM domain containing kindlin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311799	Fermt2	FERM domain containing kindlin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323441	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311799	Fermt2	FERM domain containing kindlin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323441	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21624607
1311799	Fermt2	FERM domain containing kindlin 2	gene	DOID:1115	sarcoma		ISO	RGD:1323441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311799	Fermt2	FERM domain containing kindlin 2	gene	DOID:1324	lung cancer		ISO	RGD:1323441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311799	Fermt2	FERM domain containing kindlin 2	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:1323441	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27064256
1311799	Fermt2	FERM domain containing kindlin 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311799	Fermt2	FERM domain containing kindlin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311799	Fermt2	FERM domain containing kindlin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311799	Fermt2	FERM domain containing kindlin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311799	Fermt2	FERM domain containing kindlin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311799	Fermt2	FERM domain containing kindlin 2	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1323441	D	RGD:11352307|PMID:22391155	20160713	RGD			
1311801	Syngr3	synaptogyrin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311801	Syngr3	synaptogyrin 3	gene	DOID:1909	melanoma		ISO	RGD:1323444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311801	Syngr3	synaptogyrin 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311801	Syngr3	synaptogyrin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311802	Nudt18	nudix hydrolase 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311802	Nudt18	nudix hydrolase 18	gene	DOID:10534	stomach cancer		ISO	RGD:1605623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311802	Nudt18	nudix hydrolase 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311802	Nudt18	nudix hydrolase 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311804	Qser1	glutamine and serine rich 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311804	Qser1	glutamine and serine rich 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311804	Qser1	glutamine and serine rich 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311804	Qser1	glutamine and serine rich 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311804	Qser1	glutamine and serine rich 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311804	Qser1	glutamine and serine rich 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311804	Qser1	glutamine and serine rich 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605632	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311804	Qser1	glutamine and serine rich 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311804	Qser1	glutamine and serine rich 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311804	Qser1	glutamine and serine rich 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311804	Qser1	glutamine and serine rich 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311804	Qser1	glutamine and serine rich 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311805	Rmc1	regulator of MON1-CCZ1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323450	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:0060335	autosomal dominant sideroblastic anemia 4		ISO	RGD:1323451	D	RGD:7240710	20190315	OMIM			
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:0060335	autosomal dominant sideroblastic anemia 4		ISO	RGD:1323451	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 4 | ClinVar Annotator: match by term: HSPA9-related condition	PMID:25741868|PMID:28492532
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:0080855	Parkinsonism		IEP		D	RGD:6784518|PMID:21542017	20120802	RGD		protein:decreased expression:striatum	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1323451	D	RGD:10402560|PMID:17050040	20151027	RGD			
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1323452	D	RGD:10402560|PMID:17050040	20151027	RGD			
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:13141	uveitis		ISO	RGD:1323451	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21850155
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease		ISO	RGD:1323451	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16565515
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease		ISO	RGD:1323451	D	RGD:6784528|PMID:20817635	20120802	RGD		DNA:mutation:cds:A>T476(human)	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease		ISO	RGD:1323451	D	RGD:6784529|PMID:19657588	20120802	RGD		DNA:mutations:multiple:	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease		ISO	RGD:1323451	D	RGD:6784531|PMID:16565515	20120802	RGD		protein:decreased expression:brain	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease	disease_progression	ISO	RGD:1323451	D	RGD:6784530|PMID:18219256	20120802	RGD			
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:1909	melanoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:2316	brain ischemia		IEP		D	RGD:6784525|PMID:7629893	20120802	RGD		mRNA:increased expression:brain	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:417	autoimmune disease		ISO	RGD:1323451	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21850155
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1323451	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1323451	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:630	genetic disease		ISO	RGD:1323451	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323451	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1323451	D	RGD:10402561|PMID:23739258	20151027	RGD		protein:increased expression:synovial cell:	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1323451	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18806098
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1323451	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:9005930	Endotoxemia		ISO	RGD:1323451	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16741687
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:9006624	EVEN-PLUS SYNDROME		ISO	RGD:1323451	D	RGD:7240710	20190315	OMIM			
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:9006624	EVEN-PLUS SYNDROME		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EVEN-PLUS SYNDROME | ClinVar Annotator: match by term: Even-plus syndrome	PMID:25741868|PMID:26491070|PMID:26598328|PMID:31338833|PMID:33398880
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1323451	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311806	Hspa9	heat shock protein family A (Hsp70) member 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311807	Osr1	odd-skipped related transcription factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605876	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311809	Pik3r4	phosphoinositide-3-kinase, regulatory subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311809	Pik3r4	phosphoinositide-3-kinase, regulatory subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311809	Pik3r4	phosphoinositide-3-kinase, regulatory subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311809	Pik3r4	phosphoinositide-3-kinase, regulatory subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311809	Pik3r4	phosphoinositide-3-kinase, regulatory subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311809	Pik3r4	phosphoinositide-3-kinase, regulatory subunit 4	gene	DOID:1909	melanoma		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311809	Pik3r4	phosphoinositide-3-kinase, regulatory subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311809	Pik3r4	phosphoinositide-3-kinase, regulatory subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311809	Pik3r4	phosphoinositide-3-kinase, regulatory subunit 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311809	Pik3r4	phosphoinositide-3-kinase, regulatory subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311809	Pik3r4	phosphoinositide-3-kinase, regulatory subunit 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311809	Pik3r4	phosphoinositide-3-kinase, regulatory subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311809	Pik3r4	phosphoinositide-3-kinase, regulatory subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311811	Ccrl2	C-C motif chemokine receptor like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1323460	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1311811	Ccrl2	C-C motif chemokine receptor like 2	gene	DOID:37	skin disease		ISO	RGD:1323460	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1311811	Ccrl2	C-C motif chemokine receptor like 2	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1323460	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1311813	Gdpd1	glycerophosphodiester phosphodiesterase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311813	Gdpd1	glycerophosphodiester phosphodiesterase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1349545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311813	Gdpd1	glycerophosphodiester phosphodiesterase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311813	Gdpd1	glycerophosphodiester phosphodiesterase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349545	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311813	Gdpd1	glycerophosphodiester phosphodiesterase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311813	Gdpd1	glycerophosphodiester phosphodiesterase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311813	Gdpd1	glycerophosphodiester phosphodiesterase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311815	Ddi2	DDI proteasomal shuttling factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311815	Ddi2	DDI proteasomal shuttling factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311815	Ddi2	DDI proteasomal shuttling factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311815	Ddi2	DDI proteasomal shuttling factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311815	Ddi2	DDI proteasomal shuttling factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311815	Ddi2	DDI proteasomal shuttling factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311815	Ddi2	DDI proteasomal shuttling factor 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311815	Ddi2	DDI proteasomal shuttling factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311816	Polr3d	RNA polymerase III subunit D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311816	Polr3d	RNA polymerase III subunit D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311816	Polr3d	RNA polymerase III subunit D	gene	DOID:10534	stomach cancer		ISO	RGD:1323468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311816	Polr3d	RNA polymerase III subunit D	gene	DOID:1324	lung cancer		ISO	RGD:1323468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311816	Polr3d	RNA polymerase III subunit D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311816	Polr3d	RNA polymerase III subunit D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:13269	hereditary coproporphyria		ISO	RGD:1323470	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11831056
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:13269	hereditary coproporphyria		ISO	RGD:1323470	D	RGD:21079461|PMID:30385147	20200427	RGD		DNA:missense mutations, deletion, frameshift mutation:multiple	
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:13269	hereditary coproporphyria		ISO	RGD:1323470	D	RGD:25671428|PMID:9888388	20200427	RGD		DNA:mutations:multiple	
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:13269	hereditary coproporphyria		ISO	RGD:1323470	D	RGD:25671429|PMID:15896662	20200427	RGD		DNA:missense mutations, nonsense mutation:exons:multiple	
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:13269	hereditary coproporphyria		ISO	RGD:1323470	D	RGD:25671430|PMID:12181641	20200427	RGD		DNA:missense mutations:exons:multiple	
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:13269	hereditary coproporphyria		ISO	RGD:1323470	D	RGD:7240710	20130221	OMIM			
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:13269	hereditary coproporphyria		ISO	RGD:1323470	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COPROPORPHYRIA | ClinVar Annotator: match by term: COPROPORPHYRIA, DIGENIC | ClinVar Annotator: match by term: CPOX-related condition | ClinVar Annotator: match by term: CPOX-related disorders | ClinVar Annotator: match by term: Hereditary coproporphyria	PMID:11309681|PMID:12181641|PMID:15896662|PMID:17576681|PMID:21103937|PMID:21231929|PMID:24078084|PMID:25741868|PMID:27959697|PMID:28492532|PMID:30476629|PMID:31589614|PMID:33763395|PMID:9536098|PMID:9888388
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:13269	hereditary coproporphyria		ISS	RGD:1323471	D	RGD:13592920	20230718	MouseDO		OMIM:121300	
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:3132	porphyria cutanea tarda		ISO	RGD:1323470	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11831056
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:409	liver disease	susceptibility	ISO	RGD:1323470	D	RGD:1600955|PMID:7849704	20070402	RGD		Hereditary coproporphyria, OMIM:121300;DNA:transition: :p.G89S	
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:630	genetic disease		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:9001983	Harderoporphyria		ISO	RGD:1323470	D	RGD:25671431|PMID:6886003	20200427	RGD		protein:altered activity:blood, lymphocyte (human)	
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:9001983	Harderoporphyria		ISO	RGD:1323470	D	RGD:7240710	20200805	OMIM			
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:9001983	Harderoporphyria		ISO	RGD:1323470	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HARDEROPORPHYRIA | ClinVar Annotator: match by term: Harderoporphyria	PMID:11309681|PMID:12181641|PMID:17576681|PMID:21231929|PMID:25741868|PMID:27959697|PMID:28492532|PMID:31589614|PMID:33763395|PMID:9454777|PMID:9536098
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:9002457	Experimental Arthritis		IEP		D	RGD:1600958|PMID:9173682	20070402	RGD		protein:decreased activity:liver (rat)	
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:9005584	Hepatic Porphyrias		IEP		D	RGD:4144824|PMID:19482825	20101026	RGD		protein:decreased activity:liver, mitochondrial inner membrane (rat)	
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:1323471	D	RGD:19165350|PMID:2079105	20200427	RGD		protein:decreased activity:liver (mouse)	
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311817	Cpox	coproporphyrinogen oxidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311819	Pop5	POP5 ribonuclease P/MRP subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311819	Pop5	POP5 ribonuclease P/MRP subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311820	Rasal1	RAS protein activator like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311820	Rasal1	RAS protein activator like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311820	Rasal1	RAS protein activator like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311820	Rasal1	RAS protein activator like 1	gene	DOID:1324	lung cancer		ISO	RGD:1323476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311820	Rasal1	RAS protein activator like 1	gene	DOID:1909	melanoma		ISO	RGD:1323476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311820	Rasal1	RAS protein activator like 1	gene	DOID:3070	high grade glioma		ISO	RGD:1323476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311820	Rasal1	RAS protein activator like 1	gene	DOID:3275	thymoma		ISO	RGD:1323476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311820	Rasal1	RAS protein activator like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323476	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311820	Rasal1	RAS protein activator like 1	gene	DOID:557	kidney disease		ISO	RGD:1323476	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23665422
1311820	Rasal1	RAS protein activator like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311820	Rasal1	RAS protein activator like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311820	Rasal1	RAS protein activator like 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323476	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary cancer	PMID:25741868
1311820	Rasal1	RAS protein activator like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311821	Dtd1	D-aminoacyl-tRNA deacylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311821	Dtd1	D-aminoacyl-tRNA deacylase 1	gene	DOID:1909	melanoma		ISO	RGD:1323478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311821	Dtd1	D-aminoacyl-tRNA deacylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311822	Gstcd	glutathione S-transferase, C-terminal domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311822	Gstcd	glutathione S-transferase, C-terminal domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311822	Gstcd	glutathione S-transferase, C-terminal domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311822	Gstcd	glutathione S-transferase, C-terminal domain containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311822	Gstcd	glutathione S-transferase, C-terminal domain containing	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1602688	D	RGD:633629027|PMID:37609638	20260303	RGD		mRNA:decreased expression:lung	
1311822	Gstcd	glutathione S-transferase, C-terminal domain containing	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1602688	D	RGD:633633059|PMID:21965014	20260303	RGD		DNA:SNP: :rs10516526	
1311822	Gstcd	glutathione S-transferase, C-terminal domain containing	gene	DOID:3083	chronic obstructive pulmonary disease	no_association	ISO	RGD:1602688	D	RGD:632517853|PMID:24286382	20260303	RGD		DNA:SNP:intron:rs10516526	
1311822	Gstcd	glutathione S-transferase, C-terminal domain containing	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311822	Gstcd	glutathione S-transferase, C-terminal domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311822	Gstcd	glutathione S-transferase, C-terminal domain containing	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311822	Gstcd	glutathione S-transferase, C-terminal domain containing	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1602688	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21716162
1311822	Gstcd	glutathione S-transferase, C-terminal domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311822	Gstcd	glutathione S-transferase, C-terminal domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311823	Prss37	serine protease 37	gene	DOID:1324	lung cancer		ISO	RGD:1604236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311823	Prss37	serine protease 37	gene	DOID:3275	thymoma		ISO	RGD:1604236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311823	Prss37	serine protease 37	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311823	Prss37	serine protease 37	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311825	Usp14	ubiquitin specific peptidase 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311825	Usp14	ubiquitin specific peptidase 14	gene	DOID:0050453	lissencephaly		ISO	RGD:1323483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:25741868
1311825	Usp14	ubiquitin specific peptidase 14	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1323483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis and CNS involvement	PMID:25741868
1311825	Usp14	ubiquitin specific peptidase 14	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1323483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:25741868
1311825	Usp14	ubiquitin specific peptidase 14	gene	DOID:10485	esophageal atresia		ISO	RGD:1323483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:25741868
1311825	Usp14	ubiquitin specific peptidase 14	gene	DOID:10534	stomach cancer		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311825	Usp14	ubiquitin specific peptidase 14	gene	DOID:1324	lung cancer		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311825	Usp14	ubiquitin specific peptidase 14	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311825	Usp14	ubiquitin specific peptidase 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311825	Usp14	ubiquitin specific peptidase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311825	Usp14	ubiquitin specific peptidase 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311825	Usp14	ubiquitin specific peptidase 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311825	Usp14	ubiquitin specific peptidase 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311826	Rcan3	regulator of calcineurin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311826	Rcan3	regulator of calcineurin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311826	Rcan3	regulator of calcineurin 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311826	Rcan3	regulator of calcineurin 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311826	Rcan3	regulator of calcineurin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323485	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311826	Rcan3	regulator of calcineurin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311826	Rcan3	regulator of calcineurin 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311826	Rcan3	regulator of calcineurin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311827	Rhbdd3	rhomboid domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311827	Rhbdd3	rhomboid domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311827	Rhbdd3	rhomboid domain containing 3	gene	DOID:303	substance-related disorder		ISO	RGD:1323487	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1311827	Rhbdd3	rhomboid domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311827	Rhbdd3	rhomboid domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311827	Rhbdd3	rhomboid domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323487	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311827	Rhbdd3	rhomboid domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311827	Rhbdd3	rhomboid domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311827	Rhbdd3	rhomboid domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311827	Rhbdd3	rhomboid domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311827	Rhbdd3	rhomboid domain containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1323487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311829	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311829	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:1115	sarcoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311829	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:1909	melanoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311829	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311829	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311829	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:5041	esophageal cancer		ISO	RGD:1323490	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311829	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311829	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311829	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311829	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311829	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311829	Mrps27	mitochondrial ribosomal protein S27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311830	Fbxl22	F-box and leucine-rich repeat protein 22	gene	DOID:1909	melanoma		ISO	RGD:1350469	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311831	Lrfn2	leucine rich repeat and fibronectin type III domain containing 2	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1323494	D	RGD:13592920	20180518	MouseDO			
1311831	Lrfn2	leucine rich repeat and fibronectin type III domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311831	Lrfn2	leucine rich repeat and fibronectin type III domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311832	Gpr65	G-protein coupled receptor 65	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311832	Gpr65	G-protein coupled receptor 65	gene	DOID:8577	ulcerative colitis		ISO	RGD:1323495	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:30616622
1311833	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311833	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311833	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:0080600	COVID-19		ISO	RGD:1323497	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311833	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:10534	stomach cancer		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311833	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:1115	sarcoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311833	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:3070	high grade glioma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311833	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311833	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311833	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311833	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311833	Pals2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311835	Derl1	derlin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311835	Derl1	derlin 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1346784	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
1311835	Derl1	derlin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311835	Derl1	derlin 1	gene	DOID:1324	lung cancer		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311835	Derl1	derlin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311835	Derl1	derlin 1	gene	DOID:3275	thymoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311835	Derl1	derlin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346784	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311835	Derl1	derlin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311835	Derl1	derlin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311835	Derl1	derlin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311835	Derl1	derlin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311835	Derl1	derlin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311835	Derl1	derlin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311836	Mterf2	mitochondrial transcription termination factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311836	Mterf2	mitochondrial transcription termination factor 2	gene	DOID:0080600	COVID-19		ISO	RGD:1604591	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1323505	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:10763	hypertension		IEP		D	RGD:329848961|PMID:28993448	20230606	RGD		mRNA, protein:splice variant, increased expression:mesenteric artery (rat)	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:11722	myotonic dystrophy type 1		ISO	RGD:1323505	D	RGD:329848958|PMID:32109384	20230606	RGD		protein:increased expression:heart (human)	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1323506	D	RGD:329845877|PMID:25753418	20230601	RGD			
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:1324	lung cancer		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1323505	D	RGD:329845876|PMID:26785492	20230601	RGD		DNA:mutations:multiple (human)	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1323505	D	RGD:329849001|PMID:27670201	20230607	RGD		mRNA:decreased expression:cardiovascular system (human)	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart defect | ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868|PMID:28492532
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:3275	thymoma		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1323506	D	RGD:329845877|PMID:25753418	20230606	RGD		protein:decreased expression:heart (mouse)	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:630	genetic disease		ISO	RGD:1323505	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1323505	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1323506	D	RGD:329845874|PMID:27239029	20230601	RGD		mRNA:splice variant: heart (mouse)	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1323506	D	RGD:329848997|PMID:24151077	20230607	RGD		protein:increased expression:heart, cytoplasm (mouse)	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1323505	D	RGD:329845874|PMID:27239029	20230601	RGD		mRNA:splice variant: heart (human)	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1323506	D	RGD:329845874|PMID:27239029	20230601	RGD		mRNA:splice variant: heart (mouse)	
1311838	Rbfox2	RNA binding fox-1 homolog 2	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1323505	D	RGD:329848956|PMID:27485310	20230606	RGD		protein:alternative form:heart (human)	
1311840	Dok3	docking protein 3	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1323508	D	RGD:152177496|PMID:27354594	20220512	RGD		DNA:SNP:3'utr: (rs2279398) (human)	
1311840	Dok3	docking protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311840	Dok3	docking protein 3	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1323509	D	RGD:152177521|PMID:20139980	20220517	RGD			
1311840	Dok3	docking protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1323508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311840	Dok3	docking protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311840	Dok3	docking protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323508	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311840	Dok3	docking protein 3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1323508	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20139980
1311840	Dok3	docking protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311840	Dok3	docking protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311840	Dok3	docking protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1353901	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:0111773	46,XY sex reversal 8		ISO	RGD:1353901	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:0111773	46,XY sex reversal 8		ISO	RGD:1353901	D	RGD:7240710	20141015	OMIM			
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:0111773	46,XY sex reversal 8		ISO	RGD:1353901	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 46,XY SEX REVERSAL 8 | ClinVar Annotator: match by term: AKR1C2-related condition	PMID:25741868
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:10892	hypospadias		ISO	RGD:1353901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1353901	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22381227
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:1923	disorder of sexual development		ISO	RGD:1353901	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25304492
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:2773	contact dermatitis		ISO	RGD:1353901	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:289	endometriosis		ISO	RGD:1353901	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21232532
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353901	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:8398	osteoarthritis		ISO	RGD:1353901	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1353901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:9004657	Weight Gain		ISO	RGD:1353901	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25322899
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1353901	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19696165
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:9008046	Neoplasms, Hormone-Dependent		ISO	RGD:1353901	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25304492
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1353901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	PMID:25741868
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311841	Akr1c2	aldo-keto reductase family 1, member C2	gene	DOID:9970	obesity		ISO	RGD:1353901	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:adipose tissue	PMID:15494612|REF_RGD_ID:1626148
1311843	Hemk2	HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine	gene	DOID:1115	sarcoma		ISO	RGD:1323512	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311843	Hemk2	HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine	gene	DOID:5041	esophageal cancer		ISO	RGD:1323512	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311843	Hemk2	HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311843	Hemk2	HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311843	Hemk2	HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine	gene	DOID:9256	colorectal cancer		ISO	RGD:1323512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323514	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1323514	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323514	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311844	Orc2	origin recognition complex, subunit 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1323514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311845	Cdadc1	cytidine and dCMP deaminase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311845	Cdadc1	cytidine and dCMP deaminase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311845	Cdadc1	cytidine and dCMP deaminase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1323516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311845	Cdadc1	cytidine and dCMP deaminase domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1323516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311845	Cdadc1	cytidine and dCMP deaminase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1323516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311845	Cdadc1	cytidine and dCMP deaminase domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311845	Cdadc1	cytidine and dCMP deaminase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311845	Cdadc1	cytidine and dCMP deaminase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311845	Cdadc1	cytidine and dCMP deaminase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311845	Cdadc1	cytidine and dCMP deaminase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311847	C16h19orf44	similar to human chromosome 19 open reading frame 44	gene	DOID:1115	sarcoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311847	C16h19orf44	similar to human chromosome 19 open reading frame 44	gene	DOID:1324	lung cancer		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311847	C16h19orf44	similar to human chromosome 19 open reading frame 44	gene	DOID:1909	melanoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311847	C16h19orf44	similar to human chromosome 19 open reading frame 44	gene	DOID:3275	thymoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311847	C16h19orf44	similar to human chromosome 19 open reading frame 44	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311847	C16h19orf44	similar to human chromosome 19 open reading frame 44	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311847	C16h19orf44	similar to human chromosome 19 open reading frame 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311847	C16h19orf44	similar to human chromosome 19 open reading frame 44	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311847	C16h19orf44	similar to human chromosome 19 open reading frame 44	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311847	C16h19orf44	similar to human chromosome 19 open reading frame 44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311848	P4htm	prolyl 4-hydroxylase, transmembrane	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311848	P4htm	prolyl 4-hydroxylase, transmembrane	gene	DOID:1059	intellectual disability		ISO	RGD:1607023	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
1311848	P4htm	prolyl 4-hydroxylase, transmembrane	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311848	P4htm	prolyl 4-hydroxylase, transmembrane	gene	DOID:3070	high grade glioma		ISO	RGD:1607023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311848	P4htm	prolyl 4-hydroxylase, transmembrane	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311848	P4htm	prolyl 4-hydroxylase, transmembrane	gene	DOID:630	genetic disease		ISO	RGD:1607023	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311848	P4htm	prolyl 4-hydroxylase, transmembrane	gene	DOID:9002536	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME		ISO	RGD:1607023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome	PMID:25741868
1311848	P4htm	prolyl 4-hydroxylase, transmembrane	gene	DOID:9003689	HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES		ISO	RGD:1607023	D	RGD:7240710	20190918	OMIM			
1311848	P4htm	prolyl 4-hydroxylase, transmembrane	gene	DOID:9003689	HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES		ISO	RGD:1607023	D	RGD:730454702|PMID:30940925	20260529	RGD		DNA:deletion, missense mutations, duplication:multiple	
1311848	P4htm	prolyl 4-hydroxylase, transmembrane	gene	DOID:9003689	HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES		ISO	RGD:1607023	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | ClinVar Annotator: match by term: P4HTM-related condition	PMID:25741868
1311849	Focad	focadhesin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311849	Focad	focadhesin	gene	DOID:10534	stomach cancer		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311849	Focad	focadhesin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311849	Focad	focadhesin	gene	DOID:1115	sarcoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311849	Focad	focadhesin	gene	DOID:1324	lung cancer		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311849	Focad	focadhesin	gene	DOID:1909	melanoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311849	Focad	focadhesin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311849	Focad	focadhesin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311849	Focad	focadhesin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311849	Focad	focadhesin	gene	DOID:4362	cervical cancer		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311849	Focad	focadhesin	gene	DOID:5041	esophageal cancer		ISO	RGD:1352316	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311849	Focad	focadhesin	gene	DOID:5082	liver cirrhosis		ISO	RGD:1352316	D	RGD:11554173	20220906	CTD		CTD Direct Evidence: marker/mechanism	PMID:35864190
1311849	Focad	focadhesin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311849	Focad	focadhesin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311849	Focad	focadhesin	gene	DOID:630	genetic disease		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311849	Focad	focadhesin	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311849	Focad	focadhesin	gene	DOID:9005712	Severe Congenital Liver Disease		ISO	RGD:1352316	D	RGD:7240710	20220831	OMIM			
1311849	Focad	focadhesin	gene	DOID:9005712	Severe Congenital Liver Disease		ISO	RGD:1352316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FOCAD-related condition | ClinVar Annotator: match by term: LIVER DISEASE, SEVERE CONGENITAL | ClinVar Annotator: match by term: Liver disease, severe congenital	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098
1311849	Focad	focadhesin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311849	Focad	focadhesin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311850	Nrip1	nuclear receptor interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311850	Nrip1	nuclear receptor interacting protein 1	gene	DOID:0051078	congenital anomalies of the kidney and urinary tract 3		ISO	RGD:1323522	D	RGD:7240710	20190315	OMIM			
1311850	Nrip1	nuclear receptor interacting protein 1	gene	DOID:0051078	congenital anomalies of the kidney and urinary tract 3		ISO	RGD:1323522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3 | ClinVar Annotator: match by term: NRIP1-related condition	PMID:25741868|PMID:28381549|PMID:28492532
1311850	Nrip1	nuclear receptor interacting protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1323522	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311850	Nrip1	nuclear receptor interacting protein 1	gene	DOID:11476	osteoporosis		ISO	RGD:1323522	D	RGD:10045825|PMID:16530497	20150617	RGD		DNA:silent mutation, haplotype:p.G75G (human)	
1311850	Nrip1	nuclear receptor interacting protein 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1323522	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1311850	Nrip1	nuclear receptor interacting protein 1	gene	DOID:5419	schizophrenia		ISO	RGD:1323522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
1311850	Nrip1	nuclear receptor interacting protein 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1323522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22503866
1311850	Nrip1	nuclear receptor interacting protein 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1323522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22503866
1311850	Nrip1	nuclear receptor interacting protein 1	gene	DOID:630	genetic disease		ISO	RGD:1323522	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311850	Nrip1	nuclear receptor interacting protein 1	gene	DOID:9004914	Postmenopausal Osteoporosis	susceptibility	ISO	RGD:1323522	D	RGD:10045849|PMID:22335445	20150617	RGD		DNA:silent mutation:cds:p.G75G (human)	
1311850	Nrip1	nuclear receptor interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311850	Nrip1	nuclear receptor interacting protein 1	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1323522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27348297
1311850	Nrip1	nuclear receptor interacting protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22267197
1311852	Kcnmb3	potassium calcium-activated channel subfamily M regulatory beta subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311852	Kcnmb3	potassium calcium-activated channel subfamily M regulatory beta subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311852	Kcnmb3	potassium calcium-activated channel subfamily M regulatory beta subunit 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1323526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311852	Kcnmb3	potassium calcium-activated channel subfamily M regulatory beta subunit 3	gene	DOID:3275	thymoma		ISO	RGD:1323526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311852	Kcnmb3	potassium calcium-activated channel subfamily M regulatory beta subunit 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311852	Kcnmb3	potassium calcium-activated channel subfamily M regulatory beta subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323526	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311852	Kcnmb3	potassium calcium-activated channel subfamily M regulatory beta subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311852	Kcnmb3	potassium calcium-activated channel subfamily M regulatory beta subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311852	Kcnmb3	potassium calcium-activated channel subfamily M regulatory beta subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:0060058	lymphoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:10534	stomach cancer		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:1115	sarcoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:1324	lung cancer		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:1909	melanoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:3275	thymoma		ISO	RGD:1323527	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311853	Laptm4b	lysosomal protein transmembrane 4 beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323527	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311854	Olfml1	olfactomedin-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311855	Brd1	bromodomain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311855	Brd1	bromodomain containing 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1323531	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1311855	Brd1	bromodomain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311855	Brd1	bromodomain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311855	Brd1	bromodomain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1323531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311855	Brd1	bromodomain containing 1	gene	DOID:3312	bipolar disorder	susceptibility	ISO	RGD:1323531	D	RGD:9586096|PMID:16924267	20140929	RGD		DNA,SNP,haplotype:3'UTR:	
1311855	Brd1	bromodomain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311855	Brd1	bromodomain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323531	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311855	Brd1	bromodomain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311855	Brd1	bromodomain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323531	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311855	Brd1	bromodomain containing 1	gene	DOID:5419	schizophrenia	no_association	ISO	RGD:1323531	D	RGD:9586358|PMID:19908236	20140930	RGD		DNA:SNP:promoter:rs138880(human)	
1311855	Brd1	bromodomain containing 1	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:1323531	D	RGD:9586096|PMID:16924267	20140929	RGD		DNA,SNPs,haplotype:promoter,3'UTR:	
1311855	Brd1	bromodomain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311855	Brd1	bromodomain containing 1	gene	DOID:9007090	Experimental Seizures		IEP		D	RGD:9586108|PMID:22675730	20140929	RGD			
1311855	Brd1	bromodomain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:0080010	bone structure disease		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of bone mineral density	PMID:25741868
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:10908	hydrocephalus		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:3652	Leigh disease		ISO	RGD:1604336	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25130867|PMID:25741868
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:5119	ovarian cyst		ISO	RGD:1604336	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1604336	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29410512|PMID:9536098
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9002079	Paresis		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:25741868
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral hemorrhage	PMID:25741868
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003133	Hypertelorism		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003703	Coxa Valga		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004880	CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA		ISO	RGD:1604336	D	RGD:7240710	20171011	OMIM			
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004880	CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA		ISO	RGD:1604336	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA | ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | ClinVar Annotator: match by term: IARS2-related condition	PMID:25130867|PMID:25741868|PMID:28492532|PMID:30419932
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia	PMID:25741868
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:25741868
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9007402	Gliosis		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:25741868
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9007661	Dwarfism		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1311857	Iars2	isoleucyl-tRNA synthetase 2, mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311858	Abhd4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311858	Abhd4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311858	Abhd4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311858	Abhd4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311858	Abhd4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311858	Abhd4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:0110620	primary ciliary dyskinesia 35		ISO	RGD:1606214	D	RGD:7240710	20190315	OMIM			
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:0110620	primary ciliary dyskinesia 35		ISO	RGD:1606214	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 35 | ClinVar Annotator: match by term: ODAD4-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 35	PMID:25741868
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:0110620	primary ciliary dyskinesia 35		ISS	RGD:1557055	D	RGD:13592920	20230718	MouseDO		OMIM:617092	
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1606214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:11162	respiratory failure		ISO	RGD:1606214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:1909	melanoma		ISO	RGD:1606214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:3275	thymoma		ISO	RGD:1606214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:630	genetic disease		ISO	RGD:1606214	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1606214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1606214	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
1311859	Odad4	outer dynein arm docking complex subunit 4	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1606214	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:25741868
1311860	Scoc	short coiled-coil protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311860	Scoc	short coiled-coil protein	gene	DOID:3070	high grade glioma		ISO	RGD:1323537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311860	Scoc	short coiled-coil protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311861	Fbxo45	F-box protein 45	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:1115	sarcoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:1324	lung cancer		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:1558478	D	RGD:1641947|PMID:16638826	20070824	RGD			
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:3070	high grade glioma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:3275	thymoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:4195	hyperglycemia		ISO	RGD:1558478	D	RGD:1641947|PMID:16638826	20070824	RGD			
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353673	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311862	Mgrn1	mahogunin ring finger 1	gene	DOID:9970	obesity		ISO	RGD:1558478	D	RGD:1641947|PMID:16638826	20070824	RGD			
1311863	Carnmt1	carnosine N-methyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1323541	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	
1311863	Carnmt1	carnosine N-methyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1323541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311863	Carnmt1	carnosine N-methyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323541	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311863	Carnmt1	carnosine N-methyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311863	Carnmt1	carnosine N-methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1323545	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:10802647|PMID:11335693|PMID:11354824|PMID:12398840|PMID:16199547|PMID:17576681|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:9536098
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1323545	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:14530412|PMID:16199547|PMID:17576681|PMID:17973976|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:8190646|PMID:9536098
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1323545	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:10802647|PMID:10856930|PMID:11283303|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:12668758|PMID:12925573|PMID:14530412|PMID:16162938|PMID:16199547|PMID:17576681|PMID:17973976|PMID:19587293|PMID:20410104|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:32657593|PMID:8190646|PMID:9536098
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1323545	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:10802647|PMID:10856930|PMID:11283303|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:12668758|PMID:12925573|PMID:14530412|PMID:16162938|PMID:16199547|PMID:17576681|PMID:17973976|PMID:19587293|PMID:20410104|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:31070812|PMID:31680794|PMID:32214227|PMID:32376792|PMID:32657593|PMID:8190646|PMID:9536098
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:10802647|PMID:10856930|PMID:11283303|PMID:11354824|PMID:12668758|PMID:12925573|PMID:16162938|PMID:16199547|PMID:17576681|PMID:19587293|PMID:20410104|PMID:20981092|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27697855|PMID:28190646|PMID:28492532|PMID:32376792|PMID:32657593|PMID:8190646|PMID:9536098
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:0110191	Charcot-Marie-Tooth disease type 4B1		ISO	RGD:1323545	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:0110191	Charcot-Marie-Tooth disease type 4B1		ISO	RGD:1323545	D	RGD:7240710	20130221	OMIM			
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:0110191	Charcot-Marie-Tooth disease type 4B1		ISO	RGD:1323545	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1	PMID:10802647|PMID:11354824|PMID:17576681|PMID:20301641|PMID:20981092|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31070812|PMID:31680794|PMID:32214227|PMID:32376792|PMID:9536098
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:0110191	Charcot-Marie-Tooth disease type 4B1		ISS	RGD:1323546	D	RGD:13592920	20230718	MouseDO		OMIM:601382	
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:12837694|PMID:14530412|PMID:15469949|PMID:15505184|PMID:17973976|PMID:20981092|PMID:23781969|PMID:25025039|PMID:25231362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:1909	melanoma		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:3275	thymoma		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:630	genetic disease		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12668758|PMID:14530412|PMID:15998640|PMID:17576681|PMID:20410104|PMID:25741868|PMID:26467025|PMID:27697855|PMID:28492532|PMID:31070812|PMID:32376792|PMID:9536098
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311865	Mtmr2	myotubularin related protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348432	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:0080887	vitamin D-dependent rickets type 1B		ISO	RGD:1348432	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:0080887	vitamin D-dependent rickets type 1B		ISO	RGD:1348432	D	RGD:7240710	20130221	OMIM			
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1348432	D	RGD:401901075|PMID:22871339	20231127	RGD		associated with hypoxia; protein:decreased expression:placenta (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1348432	D	RGD:401901078|PMID:32682061	20231128	RGD		mRNA:decreased expression:placenta (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1348432	D	RGD:401901174|PMID:36477942	20231130	RGD		mRNA:decreased expression:placenta (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:10763	hypertension		ISO	RGD:1348432	D	RGD:401900724|PMID:34906413	20231116	RGD		DNA:SNP:CDS: rs12794714 (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:10763	hypertension		ISO	RGD:1348432	D	RGD:401901076|PMID:30192652	20231128	RGD		DNA:SNP:CDS:rs1993116|rs10741657 (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:10763	hypertension		ISO	RGD:1348432	D	RGD:401901082|PMID:28760944	20231128	RGD		DNA:SNP:CDS:rs10741657|rs12794714 (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:10763	hypertension		ISO	RGD:1348432	D	RGD:401901148|PMID:24974252	20231129	RGD		DNA:SNP:CDS:rs12794714 (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:11714	gestational diabetes		ISO	RGD:1348432	D	RGD:401901174|PMID:36477942	20231130	RGD		mRNA:decreased expression:placenta (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:2841	asthma		ISO	RGD:1348432	D	RGD:632518024|PMID:27026514	20260202	RGD		mRNA:increased expression:peripheral blood mononuclear cell	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:2841	asthma	no_association	ISO	RGD:1348432	D	RGD:640469349|PMID:21810276	20260313	RGD		DNA:SNP:exon:rs12794714	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1348432	D	RGD:632517895|PMID:29502202	20260202	RGD		DNA:SNP: :rs12794714	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1348432	D	RGD:632518020|PMID:39583968	20260202	RGD		DNA:SNP: :rs10741657	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1348432	D	RGD:401901077|PMID:25003556	20231128	RGD		DNA:SNP:CDS:rs10741657 (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:3454	brain infarction		ISO	RGD:1348432	D	RGD:401901151|PMID:36762557	20231129	RGD		DNA:variants:CDS:multiple (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:4248	coronary stenosis		ISO	RGD:1348432	D	RGD:401901074|PMID:34262949	20231127	RGD		DNA:SNP:CDS: (Rs6486205|rs10741657|rs2060793)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1348432	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24381012
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1348432	D	RGD:9068941	20231130	RGD		DNA:SNP:CDS:rs2060793, rs1993116, rs10766197 (human)	PMID:29804528|REF_RGD_ID:401901167
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1348432	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24381012
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:1348432	D	RGD:401900724|PMID:34906413	20231116	RGD		DNA:SNP:CDS: rs12794714|rs10766197 (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:1348432	D	RGD:401901168|PMID:31814925	20231130	RGD		DNA:SNP:CDS:rs12794714 (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:1348432	D	RGD:632518022|PMID:25448751	20260202	RGD		mRNA:increased expression:placenta	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1348432	D	RGD:401900724|PMID:34906413	20231116	RGD		DNA:SNP:CDS: rs12794714|rs10766197 (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:9007772	Abdominal Obesity		ISO	RGD:1348432	D	RGD:401900724|PMID:34906413	20231116	RGD		DNA:SNP:CDS: rs12794714 (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1348432	D	RGD:2315692|PMID:17607662	20100108	RGD		DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human)	
1311866	Cyp2r1	cytochrome P450, family 2, subfamily r, polypeptide 1	gene	DOID:9970	obesity		ISO	RGD:1348432	D	RGD:401900724|PMID:34906413	20231116	RGD		associated with hypertension:DNA:SNP:CDS: rs12794714 (human)	
1311867	Syce2	synaptonemal complex central element protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1603348	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311867	Syce2	synaptonemal complex central element protein 2	gene	DOID:1909	melanoma		ISO	RGD:1603348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311867	Syce2	synaptonemal complex central element protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603348	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311868	Cenpl	centromere protein L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311868	Cenpl	centromere protein L	gene	DOID:1324	lung cancer		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311868	Cenpl	centromere protein L	gene	DOID:1909	melanoma		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311868	Cenpl	centromere protein L	gene	DOID:4362	cervical cancer		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311868	Cenpl	centromere protein L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311868	Cenpl	centromere protein L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311868	Cenpl	centromere protein L	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311869	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311869	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:0080600	COVID-19		ISO	RGD:1323550	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311869	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311869	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:2394	ovarian cancer		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311869	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:4362	cervical cancer		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311869	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311869	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311869	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311869	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:9004616	Left Ventricular Hypertrophy		IEP		D	RGD:9586349|PMID:23702776	20140929	RGD		associated with Hypertension;protein:increased expression:heart left ventricle	
1311869	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1311869	Smarcd3	SWI/SNF related BAF chromatin remodeling complex subunit D3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311871	Pus1	pseudouridine synthase 1	gene	DOID:0080099	myopathy, lactic acidosis, and sideroblastic anemia		ISO	RGD:1323553	D	RGD:11554173	20190326	CTD		CTD Direct Evidence: marker/mechanism	
1311871	Pus1	pseudouridine synthase 1	gene	DOID:0080099	myopathy, lactic acidosis, and sideroblastic anemia		ISO	RGD:1323553	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia	PMID:15108122|PMID:15772074|PMID:15971356|PMID:17056637|PMID:18648068|PMID:19731322|PMID:25058219|PMID:25741868|PMID:26556812|PMID:28492532|PMID:38450158|PMID:39148116|PMID:40438980
1311871	Pus1	pseudouridine synthase 1	gene	DOID:0080099	myopathy, lactic acidosis, and sideroblastic anemia		ISS	RGD:1323554	D	RGD:13592920	20230718	MouseDO			
1311871	Pus1	pseudouridine synthase 1	gene	DOID:0111185	myopathy, lactic acidosis, and sideroblastic anemia 1		ISO	RGD:1323553	D	RGD:7240710	20190320	OMIM			
1311871	Pus1	pseudouridine synthase 1	gene	DOID:0111185	myopathy, lactic acidosis, and sideroblastic anemia 1		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition	PMID:17056637|PMID:17576681|PMID:19731322|PMID:23707380|PMID:25058219|PMID:25227147|PMID:25741868|PMID:26556812|PMID:27374853|PMID:28492532|PMID:9536098
1311871	Pus1	pseudouridine synthase 1	gene	DOID:0111185	myopathy, lactic acidosis, and sideroblastic anemia 1		ISS	RGD:1323554	D	RGD:13592920	20260528	MouseDO		OMIM:600462	
1311871	Pus1	pseudouridine synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311871	Pus1	pseudouridine synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311871	Pus1	pseudouridine synthase 1	gene	DOID:3275	thymoma		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311871	Pus1	pseudouridine synthase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311871	Pus1	pseudouridine synthase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311871	Pus1	pseudouridine synthase 1	gene	DOID:630	genetic disease		ISO	RGD:1323553	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311871	Pus1	pseudouridine synthase 1	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1323553	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mitochondrial Myopathies	PMID:25741868|PMID:28492532
1311871	Pus1	pseudouridine synthase 1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1323553	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532
1311871	Pus1	pseudouridine synthase 1	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1323553	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Sideroblastic anemia | ClinVar Annotator: match by term: sideroblastic anemia	PMID:25741868|PMID:28492532
1311871	Pus1	pseudouridine synthase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1323553	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1311871	Pus1	pseudouridine synthase 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1323553	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1311871	Pus1	pseudouridine synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311872	Twf1	twinfilin actin-binding protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1323555	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19783987
1311873	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:0060354	Stormorken syndrome		ISS	RGD:1332545	D	RGD:13592920	20251016	MouseDO		OMIM:185070	
1311873	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:0080686	tubular aggregate myopathy 2		ISO	RGD:1606201	D	RGD:7240710	20200619	OMIM			
1311873	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:0080686	tubular aggregate myopathy 2		ISO	RGD:1606201	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYOPATHY, TUBULAR AGGREGATE, 2 | ClinVar Annotator: match by term: Myopathy, tubular aggregate, 2 | ClinVar Annotator: match by term: ORAI1-related condition	PMID:23447534|PMID:23613525|PMID:25227914|PMID:25741868|PMID:26138675|PMID:27063589|PMID:28058752|PMID:28492532|PMID:30382595
1311873	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:0080686	tubular aggregate myopathy 2		ISS	RGD:1332545	D	RGD:13592920	20251016	MouseDO		OMIM:615883	
1311873	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:0111976	immunodeficiency 9		ISO	RGD:1606201	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311873	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:0111976	immunodeficiency 9		ISO	RGD:1606201	D	RGD:7240710	20130221	OMIM			
1311873	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:0111976	immunodeficiency 9		ISO	RGD:1606201	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 9 | ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 1 | ClinVar Annotator: match by term: Immunodeficiency 9	PMID:16582901|PMID:17576681|PMID:19182790|PMID:20004786|PMID:23447534|PMID:23613525|PMID:23943619|PMID:25741868|PMID:26035642|PMID:26070885|PMID:26138675|PMID:26546674|PMID:26576490|PMID:26809793|PMID:27063589|PMID:27066545|PMID:28058752|PMID:28492532|PMID:29155098|PMID:29184031|PMID:30243034|PMID:30382595|PMID:30831274|PMID:33361160|PMID:9536098
1311873	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:10763	hypertension		ISO	RGD:1606201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19897708
1311873	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:1606201	D	RGD:11554173	20190129	CTD		CTD Direct Evidence: marker/mechanism	
1311873	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311873	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311873	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:1606201	D	RGD:152995400|PMID:27431311	20220616	RGD		associated with stomach cancer; human cells in mouse model	
1311873	Orai1	ORAI calcium release-activated calcium modulator 1	gene	DOID:9002092	Tubular Aggregate Myopathies		ISO	RGD:1606201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: tubular aggregate myopathy	PMID:25741868|PMID:28492532
1311874	Rec114	REC114 meiotic recombination protein	gene	DOID:4362	cervical cancer		ISO	RGD:2307386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311874	Rec114	REC114 meiotic recombination protein	gene	DOID:9002039	Oocyte/Zygote/Embryo Maturation Arrest 10		ISO	RGD:2307386	D	RGD:7240710	20210303	OMIM			
1311874	Rec114	REC114 meiotic recombination protein	gene	DOID:9002039	Oocyte/Zygote/Embryo Maturation Arrest 10		ISO	RGD:2307386	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 10 | ClinVar Annotator: match by term: REC114-related condition	PMID:25741868|PMID:28492532
1311875	Cdc25c	cell division cycle 25C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311875	Cdc25c	cell division cycle 25C	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:1323559	D	RGD:4105452|PMID:12931023	20100706	RGD			
1311875	Cdc25c	cell division cycle 25C	gene	DOID:10283	prostate cancer		ISO	RGD:1323559	D	RGD:2756028|PMID:17460776	20100702	RGD			
1311875	Cdc25c	cell division cycle 25C	gene	DOID:10283	prostate cancer		ISO	RGD:1323559	D	RGD:2774210|PMID:16140946	20100702	RGD			
1311875	Cdc25c	cell division cycle 25C	gene	DOID:10283	prostate cancer		ISO	RGD:1323559	D	RGD:2776427|PMID:16000564	20100702	RGD		mRNA, protein:alternative form, increased expression, increased activity:prostate gland	
1311875	Cdc25c	cell division cycle 25C	gene	DOID:10283	prostate cancer		ISO	RGD:1323559	D	RGD:4105453|PMID:12896904	20100706	RGD			
1311875	Cdc25c	cell division cycle 25C	gene	DOID:10534	stomach cancer		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311875	Cdc25c	cell division cycle 25C	gene	DOID:1115	sarcoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311875	Cdc25c	cell division cycle 25C	gene	DOID:1380	endometrial cancer		ISO	RGD:1323559	D	RGD:4105455|PMID:12124347	20100706	RGD		DNA:mutation (human)	
1311875	Cdc25c	cell division cycle 25C	gene	DOID:1612	breast cancer		ISO	RGD:1323559	D	RGD:4105448|PMID:15567944	20100706	RGD		protein:increased expression:breast	
1311875	Cdc25c	cell division cycle 25C	gene	DOID:2101	vulva squamous cell carcinoma	disease_progression	ISO	RGD:1323559	D	RGD:2729590|PMID:20500813	20100702	RGD		protein:increased expression:vulva	
1311875	Cdc25c	cell division cycle 25C	gene	DOID:2394	ovarian cancer		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311875	Cdc25c	cell division cycle 25C	gene	DOID:4362	cervical cancer		ISO	RGD:1323559	D	RGD:4105450|PMID:15289842	20100706	RGD			
1311875	Cdc25c	cell division cycle 25C	gene	DOID:4362	cervical cancer		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311875	Cdc25c	cell division cycle 25C	gene	DOID:5041	esophageal cancer		ISO	RGD:1323559	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311875	Cdc25c	cell division cycle 25C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311875	Cdc25c	cell division cycle 25C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311875	Cdc25c	cell division cycle 25C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323559	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1311875	Cdc25c	cell division cycle 25C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311875	Cdc25c	cell division cycle 25C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323559	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1311877	Gbp1	guanylate binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311877	Gbp1	guanylate binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311877	Gbp1	guanylate binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311877	Gbp1	guanylate binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311877	Gbp1	guanylate binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323562	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311877	Gbp1	guanylate binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311877	Gbp1	guanylate binding protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311877	Gbp1	guanylate binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323562	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311877	Gbp1	guanylate binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311877	Gbp1	guanylate binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311877	Gbp1	guanylate binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323562	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311877	Gbp1	guanylate binding protein 1	gene	DOID:9001488	Human Influenza		ISO	RGD:1323562	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1311877	Gbp1	guanylate binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311877	Gbp1	guanylate binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311878	Actr8	actin related protein 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311878	Actr8	actin related protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311878	Actr8	actin related protein 8	gene	DOID:10534	stomach cancer		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311878	Actr8	actin related protein 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311878	Actr8	actin related protein 8	gene	DOID:1324	lung cancer		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311878	Actr8	actin related protein 8	gene	DOID:1909	melanoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311878	Actr8	actin related protein 8	gene	DOID:3275	thymoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311878	Actr8	actin related protein 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311878	Actr8	actin related protein 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311878	Actr8	actin related protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311878	Actr8	actin related protein 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311878	Actr8	actin related protein 8	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311878	Actr8	actin related protein 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:0110839	Usher syndrome type 2C		ISO	RGD:1323565	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 2C	PMID:25741868
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:1059	intellectual disability		ISO	RGD:1323565	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:1115	sarcoma		ISO	RGD:1323565	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:1324	lung cancer		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:1909	melanoma		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323565	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:9001128	Usher Syndrome Type 2B		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Usher syndrome, type 2B	PMID:25741868
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323565	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323565	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311879	Cnksr1	connector enhancer of kinase suppressor of Ras 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311881	Slc38a9	solute carrier family 38, member 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311881	Slc38a9	solute carrier family 38, member 9	gene	DOID:1115	sarcoma		ISO	RGD:1604225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311881	Slc38a9	solute carrier family 38, member 9	gene	DOID:1324	lung cancer		ISO	RGD:1604225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311881	Slc38a9	solute carrier family 38, member 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311881	Slc38a9	solute carrier family 38, member 9	gene	DOID:4362	cervical cancer		ISO	RGD:1604225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311881	Slc38a9	solute carrier family 38, member 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311881	Slc38a9	solute carrier family 38, member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311881	Slc38a9	solute carrier family 38, member 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311881	Slc38a9	solute carrier family 38, member 9	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604225	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311881	Slc38a9	solute carrier family 38, member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311881	Slc38a9	solute carrier family 38, member 9	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1604225	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1311881	Slc38a9	solute carrier family 38, member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311881	Slc38a9	solute carrier family 38, member 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311882	Epx	eosinophil peroxidase	gene	DOID:2841	asthma		ISO	RGD:1323569	D	RGD:11574908|PMID:26645423	20180221	RGD		protein:increased activity:sputum,nasal,pharyngeal mucosa	
1311882	Epx	eosinophil peroxidase	gene	DOID:2841	asthma	disease_progression	ISO	RGD:1323569	D	RGD:13506891|PMID:20813885	20180221	RGD			
1311882	Epx	eosinophil peroxidase	gene	DOID:2841	asthma	severity	ISO	RGD:1323569	D	RGD:13506892|PMID:12199967	20180221	RGD			
1311882	Epx	eosinophil peroxidase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311882	Epx	eosinophil peroxidase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1323569	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1311882	Epx	eosinophil peroxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311882	Epx	eosinophil peroxidase	gene	DOID:9000406	Eosinophilic Asthma	treatment	ISO	RGD:1323569	D	RGD:13506890|PMID:28751233	20180221	RGD			
1311882	Epx	eosinophil peroxidase	gene	DOID:9006769	Presentey Anomaly		ISO	RGD:1323569	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311882	Epx	eosinophil peroxidase	gene	DOID:9006769	Presentey Anomaly		ISO	RGD:1323569	D	RGD:7240710	20141015	OMIM			
1311882	Epx	eosinophil peroxidase	gene	DOID:9006769	Presentey Anomaly		ISO	RGD:1323569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EOSINOPHIL PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Eosinophil peroxidase deficiency	PMID:25741868
1311882	Epx	eosinophil peroxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311882	Epx	eosinophil peroxidase	gene	DOID:9415	allergic asthma		ISO	RGD:1323569	D	RGD:13506893|PMID:11846868	20180221	RGD		protein:increased expression:urine:	
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:0050486	exanthem		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:0050581	brachydactyly		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:0060249	scoliosis		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:0080006	bone development disease		ISO	RGD:1323571	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19759027
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1323571	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract	PMID:11112658|PMID:18946009|PMID:24502542|PMID:25792522|PMID:28492532|PMID:30143558|PMID:30541476
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:0080376	trichorhinophalangeal syndrome type III		ISO	RGD:1323571	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:0080376	trichorhinophalangeal syndrome type III		ISO	RGD:1323571	D	RGD:7240710	20130221	OMIM			
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:0080376	trichorhinophalangeal syndrome type III		ISO	RGD:1323571	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SUGIO-KAJII SYNDROME | ClinVar Annotator: match by term: Sugio-Kajii Syndrome | ClinVar Annotator: match by term: TRICHORHINOPHALANGEAL SYNDROME, TYPE III | ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III	PMID:11112658|PMID:11807863|PMID:14560312|PMID:16199547|PMID:18946009|PMID:22964620|PMID:23451857|PMID:23621477|PMID:24502542|PMID:25741868|PMID:25792522|PMID:27826100|PMID:28050602|PMID:28492532|PMID:30143558|PMID:30541476
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:10907	microcephaly		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:1115	sarcoma		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:11830	myopia		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:11836	clubfoot		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:12849	autistic disorder		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:14743	trichorhinophalangeal syndrome type I		ISO	RGD:1323571	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:14743	trichorhinophalangeal syndrome type I		ISO	RGD:1323571	D	RGD:7240710	20130221	OMIM			
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:14743	trichorhinophalangeal syndrome type I		ISO	RGD:1323571	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sugio-Kajii Syndrome | ClinVar Annotator: match by term: TRICHORHINOPHALANGEAL SYNDROME, TYPE I | ClinVar Annotator: match by term: TRPS1-related disorder | ClinVar Annotator: match by term: Trichorhinophalangeal Syndrome Type I | ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I	PMID:10615131|PMID:11112658|PMID:11807863|PMID:11950061|PMID:14560312|PMID:15367484|PMID:16199547|PMID:17576681|PMID:17854380|PMID:18946009|PMID:19694891|PMID:20394624|PMID:21850686|PMID:22964620|PMID:23293878|PMID:23451857|PMID:23572024|PMID:23621477|PMID:23691375|PMID:24357341|PMID:24502542|PMID:24945424|PMID:25741868|PMID:25792522|PMID:26113321|PMID:26380986|PMID:26540763|PMID:27826100|PMID:28050602|PMID:28244134|PMID:28492532|PMID:29095814|PMID:29499646|PMID:30143558|PMID:30458885|PMID:30541476|PMID:30914275|PMID:31884116|PMID:32844440|PMID:33073934|PMID:8209886|PMID:9536098
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:14743	trichorhinophalangeal syndrome type I		ISS	RGD:1323572	D	RGD:13592920	20230718	MouseDO		OMIM:190350	
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:1826	epilepsy		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1323571	D	RGD:1599670|PMID:10615131	20070212	RGD		trichorhinophalangeal syndrome type I, OMIM:190350	
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:305	carcinoma		ISO	RGD:1323571	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:4998	trichorhinophalangeal syndrome type II		ISO	RGD:1323571	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11708946
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:4998	trichorhinophalangeal syndrome type II		ISO	RGD:1323571	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Langer-Giedion syndrome | ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type II	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:630	genetic disease		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11112658|PMID:23621477|PMID:25741868|PMID:25792522|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9000073	Metaphyseal Chondrodysplasia		ISO	RGD:1323571	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: metaphyseal chondrodysplasia	PMID:25741868|PMID:25792522|PMID:28426188|PMID:28492532|PMID:31502745
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1323571	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:24648374|PMID:28004029|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1323571	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9005517	Trichorhinophalangeal Syndrome		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichorhinophalangeal syndrome	PMID:25741868
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:26113321
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1323571	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1323571	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1323571	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11708946|PMID:19759027
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:9834	hyperopia		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:986	alopecia areata		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia areata	PMID:11112658|PMID:18946009|PMID:24502542|PMID:25741868|PMID:25792522|PMID:28468609|PMID:28492532|PMID:30541476
1311883	Trps1	transcriptional repressor GATA binding 1	gene	DOID:988	mitral valve prolapse		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:0050486	exanthem		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:25741868
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:1909	melanoma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323573	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:6195	conjunctivitis		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Conjunctivitis	PMID:25741868
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323573	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20977743
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9000352	Vascular System Injuries		IEP		D	RGD:11049588|PMID:15217908	20160411	RGD			
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323573	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9002514	Neointima		ISO	RGD:1323574	D	RGD:11049552|PMID:23657573	20160408	RGD		associated with Vascular System Injuries	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9004657	Weight Gain		ISO	RGD:1323573	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1323573	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935819
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311884	Iqgap1	IQ motif containing GTPase activating protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311886	Kif22	kinesin family member 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311886	Kif22	kinesin family member 22	gene	DOID:0080027	spondyloepimetaphyseal dysplasia		ISO	RGD:1323577	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia	PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28492532
1311886	Kif22	kinesin family member 22	gene	DOID:0112199	spondyloepimetaphyseal dysplasia with joint laxity type 2		ISO	RGD:1323577	D	RGD:7240710	20141015	OMIM			
1311886	Kif22	kinesin family member 22	gene	DOID:0112199	spondyloepimetaphyseal dysplasia with joint laxity type 2		ISO	RGD:1323577	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations	PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28492532|PMID:35730929
1311886	Kif22	kinesin family member 22	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1323577	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
1311886	Kif22	kinesin family member 22	gene	DOID:10534	stomach cancer		ISO	RGD:1323577	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1311886	Kif22	kinesin family member 22	gene	DOID:1115	sarcoma		ISO	RGD:1323577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311886	Kif22	kinesin family member 22	gene	DOID:11476	osteoporosis		ISO	RGD:1323577	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28492532
1311886	Kif22	kinesin family member 22	gene	DOID:12849	autistic disorder		ISO	RGD:1323577	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3	PMID:21681106|PMID:30208311
1311886	Kif22	kinesin family member 22	gene	DOID:1324	lung cancer		ISO	RGD:1323577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311886	Kif22	kinesin family member 22	gene	DOID:1826	epilepsy		ISO	RGD:1323577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	
1311886	Kif22	kinesin family member 22	gene	DOID:1909	melanoma		ISO	RGD:1323577	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1311886	Kif22	kinesin family member 22	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1323577	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28492532
1311886	Kif22	kinesin family member 22	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311886	Kif22	kinesin family member 22	gene	DOID:4362	cervical cancer		ISO	RGD:1323577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311886	Kif22	kinesin family member 22	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311886	Kif22	kinesin family member 22	gene	DOID:5041	esophageal cancer		ISO	RGD:1323577	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311886	Kif22	kinesin family member 22	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311886	Kif22	kinesin family member 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311886	Kif22	kinesin family member 22	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311886	Kif22	kinesin family member 22	gene	DOID:630	genetic disease		ISO	RGD:1323577	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12727876|PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28492532|PMID:35730929
1311886	Kif22	kinesin family member 22	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311886	Kif22	kinesin family member 22	gene	DOID:9004552	Genu Varum		ISO	RGD:1323577	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Genu varum	PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28492532
1311886	Kif22	kinesin family member 22	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311886	Kif22	kinesin family member 22	gene	DOID:9007661	Dwarfism		ISO	RGD:1323577	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28492532
1311886	Kif22	kinesin family member 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311887	Ctif	cap binding complex dependent translation initiation factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311887	Ctif	cap binding complex dependent translation initiation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311887	Ctif	cap binding complex dependent translation initiation factor	gene	DOID:10534	stomach cancer		ISO	RGD:1350648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311887	Ctif	cap binding complex dependent translation initiation factor	gene	DOID:1115	sarcoma		ISO	RGD:1350648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311887	Ctif	cap binding complex dependent translation initiation factor	gene	DOID:1324	lung cancer		ISO	RGD:1350648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311887	Ctif	cap binding complex dependent translation initiation factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311887	Ctif	cap binding complex dependent translation initiation factor	gene	DOID:3275	thymoma		ISO	RGD:1350648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311887	Ctif	cap binding complex dependent translation initiation factor	gene	DOID:4362	cervical cancer		ISO	RGD:1350648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311887	Ctif	cap binding complex dependent translation initiation factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1350648	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311887	Ctif	cap binding complex dependent translation initiation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311887	Ctif	cap binding complex dependent translation initiation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:0080600	COVID-19		ISO	RGD:1323582	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323582	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:1100	ovarian disease		ISO	RGD:1323582	D	RGD:11554173	20250603	CTD		CTD Direct Evidence: therapeutic	PMID:39952379
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:1115	sarcoma		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:1324	lung cancer		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1323582	D	RGD:11554173	20191112	CTD		CTD Direct Evidence: marker/mechanism	PMID:27957685
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:1909	melanoma		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:10003026|PMID:16777714	20150429	RGD		mRNA:increased expression:cerebral cortex	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:3275	thymoma		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1323582	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23602965
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323582	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:9000998	Brain Injuries		IEP		D	RGD:9999437|PMID:20309649	20150420	RGD		mRNA, protein:increased expression:cerebral cortex, hippocampus	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1558477	D	RGD:9999438|PMID:24569808	20150420	RGD			
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311889	Trpm2	transient receptor potential cation channel, subfamily M, member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1323583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:1323583	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1323583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1323583	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1323583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1323583	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1323583	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34323000
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1323583	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34323000
1311890	Zfr	zinc finger RNA binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311892	Inava	innate immunity activator	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1601862	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983784
1311892	Inava	innate immunity activator	gene	DOID:0112155	inflammatory bowel disease 29		ISO	RGD:1601862	D	RGD:7240710	20200311	OMIM			
1311892	Inava	innate immunity activator	gene	DOID:0112155	inflammatory bowel disease 29		ISO	RGD:1601862	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: INFLAMMATORY BOWEL DISEASE 29 | ClinVar Annotator: match by term: Inflammatory bowel disease 29	PMID:21983784|PMID:25741868|PMID:29420262
1311892	Inava	innate immunity activator	gene	DOID:10534	stomach cancer		ISO	RGD:1601862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311892	Inava	innate immunity activator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311892	Inava	innate immunity activator	gene	DOID:1115	sarcoma		ISO	RGD:1601862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311892	Inava	innate immunity activator	gene	DOID:5041	esophageal cancer		ISO	RGD:1601862	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311892	Inava	innate immunity activator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311892	Inava	innate immunity activator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311892	Inava	innate immunity activator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311892	Inava	innate immunity activator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311893	Rsph10b	radial spoke head 10 homolog B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311893	Rsph10b	radial spoke head 10 homolog B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311894	Tpx2	TPX2, microtubule nucleation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311894	Tpx2	TPX2, microtubule nucleation factor	gene	DOID:0080600	COVID-19		ISO	RGD:1323589	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311894	Tpx2	TPX2, microtubule nucleation factor	gene	DOID:10534	stomach cancer		ISO	RGD:1323589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311894	Tpx2	TPX2, microtubule nucleation factor	gene	DOID:1324	lung cancer		ISO	RGD:1323589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311894	Tpx2	TPX2, microtubule nucleation factor	gene	DOID:4362	cervical cancer		ISO	RGD:1323589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311894	Tpx2	TPX2, microtubule nucleation factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311894	Tpx2	TPX2, microtubule nucleation factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1323589	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311894	Tpx2	TPX2, microtubule nucleation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311894	Tpx2	TPX2, microtubule nucleation factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1323589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311894	Tpx2	TPX2, microtubule nucleation factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311894	Tpx2	TPX2, microtubule nucleation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323589	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1311894	Tpx2	TPX2, microtubule nucleation factor	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1323589	D	RGD:11554173	20260804	CTD		CTD Direct Evidence: marker/mechanism	PMID:41576688
1311894	Tpx2	TPX2, microtubule nucleation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311894	Tpx2	TPX2, microtubule nucleation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311896	Ly6h	lymphocyte antigen 6 family member H	gene	DOID:10534	stomach cancer		ISO	RGD:1323593	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311896	Ly6h	lymphocyte antigen 6 family member H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323593	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311897	Lrrc3b	leucine rich repeat containing 3B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311897	Lrrc3b	leucine rich repeat containing 3B	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1345434	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18757430
1311897	Lrrc3b	leucine rich repeat containing 3B	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1345434	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18815942
1311897	Lrrc3b	leucine rich repeat containing 3B	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1345434	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1311898	B3galt1	Beta-1,3-galactosyltransferase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1323596	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1311899	C12h12orf43	similar to human chromosome 12 open reading frame 43	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311899	C12h12orf43	similar to human chromosome 12 open reading frame 43	gene	DOID:3275	thymoma		ISO	RGD:1603965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311899	C12h12orf43	similar to human chromosome 12 open reading frame 43	gene	DOID:5041	esophageal cancer		ISO	RGD:1603965	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311899	C12h12orf43	similar to human chromosome 12 open reading frame 43	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311899	C12h12orf43	similar to human chromosome 12 open reading frame 43	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311899	C12h12orf43	similar to human chromosome 12 open reading frame 43	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:11612010	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:25057215|PMID:25741868
1311900	Slc75a1	solute carrier family 75 member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311900	Slc75a1	solute carrier family 75 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311900	Slc75a1	solute carrier family 75 member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311900	Slc75a1	solute carrier family 75 member 1	gene	DOID:1909	melanoma		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311900	Slc75a1	solute carrier family 75 member 1	gene	DOID:3275	thymoma		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311900	Slc75a1	solute carrier family 75 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311900	Slc75a1	solute carrier family 75 member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604055	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311900	Slc75a1	solute carrier family 75 member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311900	Slc75a1	solute carrier family 75 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311900	Slc75a1	solute carrier family 75 member 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311900	Slc75a1	solute carrier family 75 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311900	Slc75a1	solute carrier family 75 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311901	Rhbdl3	rhomboid like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311901	Rhbdl3	rhomboid like 3	gene	DOID:1909	melanoma		ISO	RGD:1352464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311901	Rhbdl3	rhomboid like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311901	Rhbdl3	rhomboid like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311901	Rhbdl3	rhomboid like 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311903	Vgll2	vestigial-like family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311903	Vgll2	vestigial-like family member 2	gene	DOID:1826	epilepsy		ISO	RGD:1323604	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy	
1311903	Vgll2	vestigial-like family member 2	gene	DOID:1909	melanoma		ISO	RGD:1323604	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1311904	Chsy1	chondroitin sulfate synthase 1	gene	DOID:0050814	temtamy preaxial brachydactyly syndrome		ISO	RGD:1323606	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311904	Chsy1	chondroitin sulfate synthase 1	gene	DOID:0050814	temtamy preaxial brachydactyly syndrome		ISO	RGD:1323606	D	RGD:7240710	20141015	OMIM			
1311904	Chsy1	chondroitin sulfate synthase 1	gene	DOID:0050814	temtamy preaxial brachydactyly syndrome		ISO	RGD:1323606	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CHSY1-related condition | ClinVar Annotator: match by term: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME | ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome	PMID:21129727|PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532
1311904	Chsy1	chondroitin sulfate synthase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311904	Chsy1	chondroitin sulfate synthase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311904	Chsy1	chondroitin sulfate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311904	Chsy1	chondroitin sulfate synthase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311904	Chsy1	chondroitin sulfate synthase 1	gene	DOID:630	genetic disease		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21129728|PMID:25741868|PMID:28492532
1311904	Chsy1	chondroitin sulfate synthase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323606	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311904	Chsy1	chondroitin sulfate synthase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323606	D	RGD:8554872	20191008	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30872814
1311904	Chsy1	chondroitin sulfate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311906	Fcgbpl1	Fc fragment of IgG binding protein-like 1	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:5490977|PMID:20973890	20120321	RGD			
1311907	Selenoo	selenoprotein O	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311907	Selenoo	selenoprotein O	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311907	Selenoo	selenoprotein O	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311907	Selenoo	selenoprotein O	gene	DOID:1324	lung cancer		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311907	Selenoo	selenoprotein O	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311907	Selenoo	selenoprotein O	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311907	Selenoo	selenoprotein O	gene	DOID:5041	esophageal cancer		ISO	RGD:1605929	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311907	Selenoo	selenoprotein O	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311907	Selenoo	selenoprotein O	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311907	Selenoo	selenoprotein O	gene	DOID:9256	colorectal cancer		ISO	RGD:1605929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311908	Umps	uridine monophosphate synthetase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1323612	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
1311908	Umps	uridine monophosphate synthetase	gene	DOID:0050833	orotic aciduria		ISO	RGD:1323612	D	RGD:11554173	20250204	CTD		CTD Direct Evidence: marker/mechanism	
1311908	Umps	uridine monophosphate synthetase	gene	DOID:0050833	orotic aciduria		ISO	RGD:1323612	D	RGD:7240710	20130221	OMIM			
1311908	Umps	uridine monophosphate synthetase	gene	DOID:0050833	orotic aciduria		ISO	RGD:1323612	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary orotic aciduria | ClinVar Annotator: match by term: Hereditary orotic aciduria, type 1 | ClinVar Annotator: match by term: OROTIC ACIDURIA | ClinVar Annotator: match by term: Orotic aciduria | ClinVar Annotator: match by term: Oroticaciduria 1 | ClinVar Annotator: match by term: UMPS-related condition	PMID:16199547|PMID:25741868|PMID:25757096|PMID:28205048|PMID:28263315|PMID:28492532
1311908	Umps	uridine monophosphate synthetase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311908	Umps	uridine monophosphate synthetase	gene	DOID:0080916	erythroleukemia		ISO	RGD:1323612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
1311908	Umps	uridine monophosphate synthetase	gene	DOID:10923	sickle cell anemia		ISO	RGD:1323612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
1311908	Umps	uridine monophosphate synthetase	gene	DOID:10965	spastic diplegia		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:25741868|PMID:28492532
1311908	Umps	uridine monophosphate synthetase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311908	Umps	uridine monophosphate synthetase	gene	DOID:12241	beta thalassemia		ISO	RGD:1323612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
1311908	Umps	uridine monophosphate synthetase	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1323612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
1311908	Umps	uridine monophosphate synthetase	gene	DOID:1342	congenital hypoplastic anemia		ISO	RGD:1323612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
1311908	Umps	uridine monophosphate synthetase	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1323612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16757204
1311908	Umps	uridine monophosphate synthetase	gene	DOID:1826	epilepsy		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1311908	Umps	uridine monophosphate synthetase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532
1311908	Umps	uridine monophosphate synthetase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311908	Umps	uridine monophosphate synthetase	gene	DOID:630	genetic disease		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311908	Umps	uridine monophosphate synthetase	gene	DOID:653	purine-pyrimidine metabolic disorder		ISO	RGD:1323612	D	RGD:1599702|PMID:9042911	20070213	RGD		orotic aciduria	
1311908	Umps	uridine monophosphate synthetase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18230555
1311908	Umps	uridine monophosphate synthetase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1323612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16912530|PMID:17089033|PMID:18652704
1311908	Umps	uridine monophosphate synthetase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1323612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15999119|PMID:19082440
1311908	Umps	uridine monophosphate synthetase	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1323612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18652704
1311908	Umps	uridine monophosphate synthetase	gene	DOID:9004507	Hirsutism		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28492532
1311908	Umps	uridine monophosphate synthetase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1311908	Umps	uridine monophosphate synthetase	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:5132278|PMID:3907307	20110524	RGD		protein:decreased activity:liver (rat)	
1311908	Umps	uridine monophosphate synthetase	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:5132591|PMID:1476792	20110526	RGD		protein:decreased activity:mammary gland (rat)	
1311908	Umps	uridine monophosphate synthetase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1323612	D	RGD:152995291|PMID:28347776	20220614	RGD		DNA:SNP:cds:rs2279199|rs4678145 (human)	
1311908	Umps	uridine monophosphate synthetase	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1323612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16757204
1311908	Umps	uridine monophosphate synthetase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1311908	Umps	uridine monophosphate synthetase	gene	DOID:9008120	Orotic Aciduria II		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orotidylic decarboxylase deficiency	PMID:25741868|PMID:28492532
1311908	Umps	uridine monophosphate synthetase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1323612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15814641|PMID:19020767
1311908	Umps	uridine monophosphate synthetase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323612	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19020767|PMID:19151563
1311908	Umps	uridine monophosphate synthetase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311909	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311909	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:1115	sarcoma		ISO	RGD:1349742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311909	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:1909	melanoma		ISO	RGD:1349742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311909	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311909	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349742	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311909	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311909	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1349742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311909	Tmcc1	transmembrane and coiled-coil domain family 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311910	Rbfa	ribosome binding factor A	gene	DOID:1115	sarcoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311910	Rbfa	ribosome binding factor A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311910	Rbfa	ribosome binding factor A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311910	Rbfa	ribosome binding factor A	gene	DOID:5041	esophageal cancer		ISO	RGD:1323615	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311910	Rbfa	ribosome binding factor A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311910	Rbfa	ribosome binding factor A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311910	Rbfa	ribosome binding factor A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311911	Hhatl	hedgehog acyltransferase-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311911	Hhatl	hedgehog acyltransferase-like	gene	DOID:1909	melanoma		ISO	RGD:1344894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311911	Hhatl	hedgehog acyltransferase-like	gene	DOID:6039	uveal melanoma		ISO	RGD:1344894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311911	Hhatl	hedgehog acyltransferase-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311911	Hhatl	hedgehog acyltransferase-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311912	Ccdc59	coiled-coil domain containing 59	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311912	Ccdc59	coiled-coil domain containing 59	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311912	Ccdc59	coiled-coil domain containing 59	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311912	Ccdc59	coiled-coil domain containing 59	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311912	Ccdc59	coiled-coil domain containing 59	gene	DOID:9256	colorectal cancer		ISO	RGD:1606017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311914	Slc25a38	solute carrier family 25, member 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311914	Slc25a38	solute carrier family 25, member 38	gene	DOID:0060065	autosomal recessive pyridoxine-refractory sideroblastic anemia 2		ISO	RGD:1606272	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311914	Slc25a38	solute carrier family 25, member 38	gene	DOID:0060065	autosomal recessive pyridoxine-refractory sideroblastic anemia 2		ISO	RGD:1606272	D	RGD:7240710	20130221	OMIM			
1311914	Slc25a38	solute carrier family 25, member 38	gene	DOID:0060065	autosomal recessive pyridoxine-refractory sideroblastic anemia 2		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY | ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: SLC25A38-related condition	PMID:19412178|PMID:21393332|PMID:25741868|PMID:25985931|PMID:28492532|PMID:28772256|PMID:30735661|PMID:31338833
1311914	Slc25a38	solute carrier family 25, member 38	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311914	Slc25a38	solute carrier family 25, member 38	gene	DOID:1115	sarcoma		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311914	Slc25a38	solute carrier family 25, member 38	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311914	Slc25a38	solute carrier family 25, member 38	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311914	Slc25a38	solute carrier family 25, member 38	gene	DOID:5041	esophageal cancer		ISO	RGD:1606272	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311914	Slc25a38	solute carrier family 25, member 38	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311914	Slc25a38	solute carrier family 25, member 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311914	Slc25a38	solute carrier family 25, member 38	gene	DOID:630	genetic disease		ISO	RGD:1606272	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311914	Slc25a38	solute carrier family 25, member 38	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1606272	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19412178
1311914	Slc25a38	solute carrier family 25, member 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311915	Flnb	filamin B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311915	Flnb	filamin B	gene	DOID:0050581	brachydactyly		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
1311915	Flnb	filamin B	gene	DOID:0050680	Boomerang dysplasia		ISO	RGD:1323621	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311915	Flnb	filamin B	gene	DOID:0050680	Boomerang dysplasia		ISO	RGD:1323621	D	RGD:7240710	20130221	OMIM			
1311915	Flnb	filamin B	gene	DOID:0050680	Boomerang dysplasia		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BOOMERANG DYSPLASIA | ClinVar Annotator: match by term: Boomerang dysplasia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
1311915	Flnb	filamin B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1311915	Flnb	filamin B	gene	DOID:0060564	spinal disease		ISO	RGD:1323621	D	RGD:1601168|PMID:14991055	20070410	RGD		spondylocarpotarsal syndrome,OMIM:272460;DNA:frameshift:6408delC,DNA:point mutation:exons:R818X,R1607X	
1311915	Flnb	filamin B	gene	DOID:0070297	primary microcephaly		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
1311915	Flnb	filamin B	gene	DOID:0080006	bone development disease		ISO	RGD:1323621	D	RGD:1601168|PMID:14991055	20070410	RGD		Larsen syndrome,OMIM:150250;DNA:point mutation:exon:F161C	
1311915	Flnb	filamin B	gene	DOID:0080006	bone development disease		ISO	RGD:1323621	D	RGD:1601170|PMID:15994868	20070410	RGD		boomerang dysplasia,OMIM:112310;DNA:point mutation:exon:L171R,S235P	
1311915	Flnb	filamin B	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FLNB-Related Disorders	PMID:14991055|PMID:16648377|PMID:16801345|PMID:17576681|PMID:20301736|PMID:21620354|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:34491919|PMID:9536098
1311915	Flnb	filamin B	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5	PMID:14991055|PMID:16648377|PMID:16752402|PMID:16801345|PMID:17576681|PMID:19085972|PMID:20301736|PMID:21620354|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:34491919|PMID:9536098
1311915	Flnb	filamin B	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1323621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5	PMID:16752402|PMID:16801345|PMID:17576681|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:34491919|PMID:9536098
1311915	Flnb	filamin B	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis	PMID:25741868
1311915	Flnb	filamin B	gene	DOID:0090116	spondylocarpotarsal synostosis syndrome		ISO	RGD:1323621	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14991055
1311915	Flnb	filamin B	gene	DOID:0090116	spondylocarpotarsal synostosis syndrome		ISO	RGD:1323621	D	RGD:7240710	20130221	OMIM			
1311915	Flnb	filamin B	gene	DOID:0090116	spondylocarpotarsal synostosis syndrome		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome | ClinVar Annotator: match by term: VERTEBRAL FUSION WITH CARPAL COALITION	PMID:14991055|PMID:16752402|PMID:16801345|PMID:17576681|PMID:18322662|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26380986|PMID:26491051|PMID:28492532|PMID:29566257|PMID:30712878|PMID:31836586|PMID:33407338|PMID:38933926|PMID:9536098
1311915	Flnb	filamin B	gene	DOID:0090116	spondylocarpotarsal synostosis syndrome		ISO	RGD:1323622	D	RGD:12791028|PMID:17635842	20170228	RGD			
1311915	Flnb	filamin B	gene	DOID:0090116	spondylocarpotarsal synostosis syndrome		ISS	RGD:1323622	D	RGD:13592920	20230718	MouseDO		OMIM:272460	
1311915	Flnb	filamin B	gene	DOID:0112280	spondyloepiphyseal dysplasia		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
1311915	Flnb	filamin B	gene	DOID:10534	stomach cancer		ISO	RGD:1323621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1311915	Flnb	filamin B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311915	Flnb	filamin B	gene	DOID:1115	sarcoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311915	Flnb	filamin B	gene	DOID:11836	clubfoot		ISO	RGD:1323621	D	RGD:12791025|PMID:27395407	20170228	RGD		DNA:missense mutations:cds:c.4717G>T (p.D1573Y), c.1897A>G(p.M633V,c.2195A>G (p.Y732C)(human)	
1311915	Flnb	filamin B	gene	DOID:11836	clubfoot		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus | ClinVar Annotator: match by term: Clubfoot	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:31836586|PMID:34491919
1311915	Flnb	filamin B	gene	DOID:1324	lung cancer		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311915	Flnb	filamin B	gene	DOID:14764	Larsen syndrome		ISO	RGD:1323621	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14991055
1311915	Flnb	filamin B	gene	DOID:14764	Larsen syndrome		ISO	RGD:1323621	D	RGD:7240710	20130221	OMIM			
1311915	Flnb	filamin B	gene	DOID:14764	Larsen syndrome		ISO	RGD:1323621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: LARSEN SYNDROME | ClinVar Annotator: match by term: Larsen syndrome	PMID:14991055|PMID:16648377|PMID:16752402|PMID:16801345|PMID:18322662|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:27048506|PMID:28229453|PMID:28492532|PMID:29566257|PMID:30712878|PMID:31836586|PMID:33255942|PMID:34557487
1311915	Flnb	filamin B	gene	DOID:1909	melanoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311915	Flnb	filamin B	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1323621	D	RGD:12791027|PMID:16752402	20170228	RGD		DNA:missense, deletion mutations:exons:	
1311915	Flnb	filamin B	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1323621	D	RGD:1601168|PMID:14991055	20070410	RGD		atelosteogenesis type I,OMIM:108720;DNA:point mutation:exon:A173V	
1311915	Flnb	filamin B	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
1311915	Flnb	filamin B	gene	DOID:3070	high grade glioma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311915	Flnb	filamin B	gene	DOID:3275	thymoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311915	Flnb	filamin B	gene	DOID:4362	cervical cancer		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1311915	Flnb	filamin B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311915	Flnb	filamin B	gene	DOID:5041	esophageal cancer		ISO	RGD:1323621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1311915	Flnb	filamin B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1311915	Flnb	filamin B	gene	DOID:630	genetic disease		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14991055|PMID:16199547|PMID:16752402|PMID:16801345|PMID:17576681|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:34491919|PMID:9536098
1311915	Flnb	filamin B	gene	DOID:65	connective tissue disease		ISO	RGD:1323621	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:14991055|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311915	Flnb	filamin B	gene	DOID:65	connective tissue disease		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
1311915	Flnb	filamin B	gene	DOID:674	cleft palate		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
1311915	Flnb	filamin B	gene	DOID:674	cleft palate	susceptibility	ISO	RGD:1323621	D	RGD:12791026|PMID:20634891	20170228	RGD		DNA:SNPs::	
1311915	Flnb	filamin B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1311915	Flnb	filamin B	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
1311915	Flnb	filamin B	gene	DOID:9001031	Retrognathia		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
1311915	Flnb	filamin B	gene	DOID:9001383	Atelosteogenesis Type 1		ISO	RGD:1323621	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14991055
1311915	Flnb	filamin B	gene	DOID:9001383	Atelosteogenesis Type 1		ISO	RGD:1323621	D	RGD:7240710	20130221	OMIM			
1311915	Flnb	filamin B	gene	DOID:9001383	Atelosteogenesis Type 1		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ATELOSTEOGENESIS, TYPE I | ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: SPONDYLOHUMEROFEMORAL HYPOPLASIA | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia	PMID:16752402|PMID:16801345|PMID:17576681|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:9536098
1311915	Flnb	filamin B	gene	DOID:9003133	Hypertelorism		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:16752402|PMID:22190451|PMID:25741868|PMID:28492532
1311915	Flnb	filamin B	gene	DOID:9003279	Joint Dislocations		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	PMID:25741868
1311915	Flnb	filamin B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1311915	Flnb	filamin B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311915	Flnb	filamin B	gene	DOID:9004353	Larsen Syndromes		ISO	RGD:1323621	D	RGD:12791029|PMID:16801345	20170228	RGD		DNA:deletion, missense mutations:cds:	
1311915	Flnb	filamin B	gene	DOID:9004436	Atelosteogenesis Type 3		ISO	RGD:1323621	D	RGD:7240710	20151217	OMIM			
1311915	Flnb	filamin B	gene	DOID:9004436	Atelosteogenesis Type 3		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ATELOSTEOGENESIS, TYPE III | ClinVar Annotator: match by term: Atelosteogenesis type III	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
1311915	Flnb	filamin B	gene	DOID:9004979	Knee Dislocation		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital knee dislocation | ClinVar Annotator: match by term: Knee dislocation	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:31836586|PMID:34491919
1311915	Flnb	filamin B	gene	DOID:9005077	Joint Instability		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:16752402|PMID:22190451|PMID:25741868|PMID:28492532
1311915	Flnb	filamin B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311915	Flnb	filamin B	gene	DOID:9005616	Micrognathism		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
1311915	Flnb	filamin B	gene	DOID:9006120	Absent Patella		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patella aplasia/hypoplasia	PMID:25741868|PMID:28492532|PMID:31836586|PMID:34491919
1311915	Flnb	filamin B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311915	Flnb	filamin B	gene	DOID:9007661	Dwarfism		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
1311915	Flnb	filamin B	gene	DOID:9008858	Arthrogryposis, Impaired Intellectual Development, and Seizures		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis syndrome	
1311915	Flnb	filamin B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1311915	Flnb	filamin B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISO	RGD:1323623	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	PMID:25741868|PMID:28296950|PMID:28492532
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:0060543	Hermansky-Pudlak syndrome 5		ISO	RGD:1323623	D	RGD:7240710	20140911	OMIM			
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:0060543	Hermansky-Pudlak syndrome 5		ISO	RGD:1323623	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5	PMID:12548288|PMID:15296495|PMID:21833017|PMID:22995991|PMID:23607980|PMID:24033266|PMID:24698632|PMID:25741868|PMID:26785811|PMID:28296950|PMID:28492532|PMID:28640947|PMID:31064749
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:0060543	Hermansky-Pudlak syndrome 5		ISO	RGD:1323623	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HERMANSKY-PUDLAK SYNDROME 5 | ClinVar Annotator: match by term: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5	PMID:12548288|PMID:15296495|PMID:16199547|PMID:21833017|PMID:22995991|PMID:23607980|PMID:24033266|PMID:25741868|PMID:26785811|PMID:28296950|PMID:28492532|PMID:28640947|PMID:31064749|PMID:35126127
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:0060543	Hermansky-Pudlak syndrome 5		ISS	RGD:1323624	D	RGD:13592920	20230718	MouseDO		OMIM:614074	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:2223	platelet storage pool deficiency		ISS	RGD:1323624	D	RGD:13592920	20180518	MouseDO		OMIM:185050	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1323623	D	RGD:11072072|PMID:15296495	20160728	RGD		DNA:mutations:multiple:	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1323623	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome	PMID:12548288|PMID:15296495|PMID:16199547|PMID:21833017|PMID:25741868|PMID:26785811|PMID:28296950|PMID:28492532|PMID:28640947|PMID:31064749
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323623	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323623	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28296950|PMID:28492532
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311916	Hps5	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1323623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1311919	Ss18	SS18 subunit of BAF chromatin remodeling complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311919	Ss18	SS18 subunit of BAF chromatin remodeling complex	gene	DOID:10534	stomach cancer		ISO	RGD:1323627	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311919	Ss18	SS18 subunit of BAF chromatin remodeling complex	gene	DOID:1324	lung cancer		ISO	RGD:1323627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311919	Ss18	SS18 subunit of BAF chromatin remodeling complex	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311919	Ss18	SS18 subunit of BAF chromatin remodeling complex	gene	DOID:4362	cervical cancer		ISO	RGD:1323627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311919	Ss18	SS18 subunit of BAF chromatin remodeling complex	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323627	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311919	Ss18	SS18 subunit of BAF chromatin remodeling complex	gene	DOID:5485	synovial sarcoma		ISO	RGD:1323627	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:9428816|PMID:27572315
1311919	Ss18	SS18 subunit of BAF chromatin remodeling complex	gene	DOID:5485	synovial sarcoma		ISO	RGD:1323627	D	RGD:1599184|PMID:7951320	20070118	RGD			
1311919	Ss18	SS18 subunit of BAF chromatin remodeling complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311919	Ss18	SS18 subunit of BAF chromatin remodeling complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311920	Aftph	aftiphilin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311920	Aftph	aftiphilin	gene	DOID:10534	stomach cancer		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311920	Aftph	aftiphilin	gene	DOID:1115	sarcoma		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311920	Aftph	aftiphilin	gene	DOID:1324	lung cancer		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311920	Aftph	aftiphilin	gene	DOID:3275	thymoma		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311920	Aftph	aftiphilin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311920	Aftph	aftiphilin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311920	Aftph	aftiphilin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311920	Aftph	aftiphilin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311920	Aftph	aftiphilin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:16400610|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532|PMID:29300383
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050567	orofacial cleft		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate | ClinVar Annotator: match by term: Orofacial cleft	PMID:16155193|PMID:17684005|PMID:20884005|PMID:21158681|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28475860|PMID:28492532|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050567	orofacial cleft		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:16155193|PMID:17684005|PMID:20884005|PMID:21158681|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28475860|PMID:28492532|PMID:29178447|PMID:31395954|PMID:33775524|PMID:33775534|PMID:39337901|PMID:41225491
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050591	tooth agenesis		ISO	RGD:1323630	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: tooth agenesis	PMID:16155193|PMID:16400610|PMID:21158681|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1323630	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Atrioventricular canal defect	PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1323630	D	RGD:11067078|PMID:22033296	20160919	RGD			
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1323630	D	RGD:11535040|PMID:18445044	20160919	RGD		DNA:missense mutations:exon:p.Q1214R (c.3641A>G), p.L1302P (c.3905T>C), p.V1742D (c.5225T>A) (human)	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1323630	D	RGD:11535041|PMID:20624498	20160919	RGD		DNA:missense mutation, SNP:exon, 5' utr:p.L979P (c.2936T>C), c.-66C>T (human)	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1323630	D	RGD:11535050|PMID:18073582	20160920	RGD		DNA:missense mutations: :p.W983G, p.D1596G, p.R2319C (human)	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1323630	D	RGD:11535051|PMID:23333604	20160920	RGD		DNA:missense mutations: :p.C1588W (c.4764T>G), (p.D1825N (c.5473G>A) (human)	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1323630	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:16615981|PMID:21532573
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1323630	D	RGD:7240710	20130221	OMIM			
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1323630	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar Annotator: match by term: CHD7-related condition | ClinVar Annotator: match by term: Hall-Hittner syndrome	PMID:10590394|PMID:15300250|PMID:16155193|PMID:16169932|PMID:16199547|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17253929|PMID:17334995|PMID:17576681|PMID:17661815|PMID:17684005|PMID:17937444|PMID:18073582|PMID:18074359|PMID:18089695|PMID:18413373|PMID:18414213|PMID:18445044|PMID:18484313|PMID:18505430|PMID:18834967|PMID:18978652|PMID:19021638|PMID:19112063|PMID:19763152|PMID:19772954|PMID:20301296|PMID:20307669|PMID:20453063|PMID:20624498|PMID:20884005|PMID:21041284|PMID:21158681|PMID:21196067|PMID:21378379|PMID:21554267|PMID:21856375|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22035731|PMID:22258531|PMID:22399515|PMID:22406018|PMID:22461308|PMID:22462537|PMID:22539353|PMID:22902603|PMID:23024289|PMID:23134727|PMID:23378218|PMID:23495722|PMID:23526466|PMID:23533228|PMID:23806086|PMID:23849776|PMID:23885230|PMID:23956205|PMID:24033266|PMID:24088041|PMID:24214489|PMID:24368733|PMID:24755471|PMID:24979395|PMID:25064402|PMID:25077900|PMID:25326635|PMID:25326637|PMID:25383892|PMID:25472840|PMID:25533962|PMID:25689927|PMID:25741868|PMID:25931334|PMID:26141714|PMID:26436962|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26663670|PMID:26666243|PMID:26785492|PMID:26813943|PMID:26929907|PMID:26986878|PMID:27061523|PMID:27562378|PMID:27832265|PMID:27884173|PMID:27884859|PMID:27899157|PMID:28191889|PMID:28475860|PMID:28492532|PMID:28554332|PMID:28832562|PMID:28991257|PMID:29152903|PMID:29178447|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:29355723|PMID:29368431|PMID:29419413|PMID:29434620|PMID:30029678|PMID:30098700|PMID:30293987|PMID:30311386|PMID:30577886|PMID:30653986|PMID:30733481|PMID:30828794|PMID:30847515|PMID:31019026|PMID:31042289|PMID:31043788|PMID:31130284|PMID:31146700|PMID:31289371|PMID:31395954|PMID:31501239|PMID:31564432|PMID:31628846|PMID:31689711|PMID:31729160|PMID:31941532|PMID:31965297|PMID:32185379|PMID:32368696|PMID:32625235|PMID:32804436|PMID:32851286|PMID:32870266|PMID:32914532|PMID:32982993|PMID:33142350|PMID:33184947|PMID:33468338|PMID:33502061|PMID:33844462|PMID:34202106|PMID:34348883|PMID:34837038|PMID:34930662|PMID:35047002|PMID:35586607|PMID:35778651|PMID:35904121|PMID:35938004|PMID:35982127|PMID:36135330|PMID:36474027|PMID:36531499|PMID:36794641|PMID:36833263|PMID:37108593|PMID:37668839|PMID:39033378|PMID:6489378|PMID:7651832|PMID:8073582|PMID:9536098
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES | ClinVar Annotator: match by term: CHARGE SYNDROME | ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar Annotator: match by term: CHD7-related condition | ClinVar Annotator: match by term: Hall-Hittner syndrome	PMID:10590394|PMID:15300250|PMID:16155193|PMID:16169932|PMID:16199547|PMID:16400610|PMID:16615981|PMID:1671|PMID:16763960|PMID:17576681|PMID:17661815|PMID:17684005|PMID:17937444|PMID:18073582|PMID:18074359|PMID:18089695|PMID:18414213|PMID:18445044|PMID:18484313|PMID:18505430|PMID:18834967|PMID:19021638|PMID:19112063|PMID:19763152|PMID:2010|PMID:20301296|PMID:20307669|PMID:20453063|PMID:20624498|PMID:20884005|PMID:21158681|PMID:21196067|PMID:21378379|PMID:21554267|PMID:21931733|PMID:22033296|PMID:22399515|PMID:22406018|PMID:22461308|PMID:22462537|PMID:22539353|PMID:22722829|PMID:23024289|PMID:23134727|PMID:23378218|PMID:23495722|PMID:23526466|PMID:23533228|PMID:23849776|PMID:23885230|PMID:23956205|PMID:24033266|PMID:24214489|PMID:24368733|PMID:24755471|PMID:24979395|PMID:25064402|PMID:25077900|PMID:25326637|PMID:25383892|PMID:25472840|PMID:25741868|PMID:25818041|PMID:25931334|PMID:26141714|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26666243|PMID:26929907|PMID:26986878|PMID:27061523|PMID:27832265|PMID:27884173|PMID:27993330|PMID:28191889|PMID:28475860|PMID:28492532|PMID:28554332|PMID:28726821|PMID:28991257|PMID:29152903|PMID:29178447|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:29355723|PMID:29419413|PMID:29434620|PMID:29531775|PMID:30049826|PMID:30098700|PMID:30181649|PMID:30293987|PMID:30311386|PMID:30476936|PMID:30577886|PMID:30733481|PMID:30828794|PMID:30847515|PMID:31060112|PMID:31130284|PMID:31146700|PMID:31289371|PMID:31395954|PMID:31564432|PMID:31689711|PMID:31729160|PMID:31941532|PMID:31965297|PMID:32185379|PMID:32368696|PMID:32436650|PMID:32625235|PMID:32804436|PMID:32851286|PMID:32870266|PMID:32914532|PMID:32982993|PMID:33057194|PMID:33142350|PMID:33468338|PMID:33502061|PMID:33741928|PMID:33775524|PMID:33775534|PMID:33844462|PMID:34202106|PMID:34348883|PMID:34837038|PMID:34930662|PMID:35015700|PMID:35047002|PMID:35105264|PMID:35586607|PMID:35778651|PMID:35904121|PMID:35938004|PMID:35982127|PMID:35982159|PMID:36502621|PMID:36531499|PMID:36794641|PMID:36833263|PMID:37108593|PMID:37305875|PMID:37668839|PMID:39337901|PMID:40393452|PMID:41225491|PMID:6489378|PMID:7|PMID:8073582|PMID:9536098
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1616427	D	RGD:11535032|PMID:24840056	20160919	RGD		DNA:nonsense mutation:exon:p.S1897X (c.5690C>A) (mouse)	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1616427	D	RGD:11535048|PMID:16207732	20160920	RGD		DNA:nonsense mutations, splice-site mutations: :multiple	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050834	CHARGE syndrome		ISS	RGD:1616427	D	RGD:13592920	20230718	MouseDO		OMIM:214800	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:16400610|PMID:22399515|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1323630	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0060225	3MC syndrome		ISO	RGD:1323630	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: 3MC syndrome	PMID:21554267|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0060249	scoliosis		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:16400610|PMID:22399515|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0060250	idiopathic scoliosis		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 3	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0060260	ptosis		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:18505430|PMID:24033266|PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0060313	tracheomalacia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:16763960|PMID:18073582|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0060321	umbilical hernia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	PMID:16155193|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22461308|PMID:22462537|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0070183	spermatogenic failure 5		ISO	RGD:1323630	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder	PMID:23533228|PMID:25064402|PMID:25383892|PMID:25741868|PMID:28492532|PMID:30733481
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:17684005|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	PMID:16763960|PMID:17684005|PMID:18073582|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0080703	medulloblastoma SHH activated		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated	PMID:22722829|PMID:27993330|PMID:28726821|PMID:33741928
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0080833	laryngomalacia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia | ClinVar Annotator: match by term: Laryngomalacia	PMID:16400610|PMID:16763960|PMID:18073582|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22033296|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28475860|PMID:28492532|PMID:29300383
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:17684005|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1323630	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0090084	hypogonadotropic hypogonadism 5 with or without anosmia		ISO	RGD:1323630	D	RGD:7240710	20180103	OMIM			
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0090084	hypogonadotropic hypogonadism 5 with or without anosmia		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia	PMID:16155193|PMID:16169932|PMID:16400610|PMID:16615981|PMID:17576681|PMID:18073582|PMID:18414213|PMID:18445044|PMID:18484313|PMID:18834967|PMID:20301296|PMID:20884005|PMID:21158681|PMID:22033296|PMID:22461308|PMID:22462537|PMID:22539353|PMID:23533228|PMID:24033266|PMID:24755471|PMID:24979395|PMID:25064402|PMID:25077900|PMID:25383892|PMID:25472840|PMID:25741868|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26666243|PMID:28475860|PMID:28492532|PMID:28554332|PMID:28991257|PMID:29255276|PMID:29300383|PMID:29304373|PMID:29419413|PMID:30098700|PMID:30311386|PMID:30733481|PMID:30828794|PMID:31289371|PMID:31689711|PMID:31729160|PMID:31941532|PMID:31965297|PMID:32368696|PMID:32804436|PMID:33142350|PMID:34837038|PMID:35047002|PMID:37668839|PMID:9536098
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0110214	cleft soft palate		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft soft palate	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:17684005|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:0112177	Mayer-Rokitansky-Kuster-Hauser syndrome		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplasia of the uterus	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:16400610|PMID:18505430|PMID:22399515|PMID:22461308|PMID:24033266|PMID:25077900|PMID:25741868|PMID:28492532|PMID:32247258
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:10485	esophageal atresia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:15300250|PMID:16169932|PMID:17684005|PMID:22461308|PMID:23024289|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:28991257|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:10534	stomach cancer		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1059	intellectual disability		ISO	RGD:1323630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:15300250|PMID:16155193|PMID:16400610|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22399515|PMID:22461308|PMID:22462537|PMID:25077900|PMID:25472840|PMID:25741868|PMID:28492532|PMID:30029678
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:10629	microphthalmia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia | ClinVar Annotator: match by term: Unilateral microphthalmos	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:10907	microcephaly		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16169932|PMID:17684005|PMID:22461308|PMID:23024289|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:28991257|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:10908	hydrocephalus		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Ventriculomegaly	PMID:16169932|PMID:16763960|PMID:18073582|PMID:18414213|PMID:18505430|PMID:21158681|PMID:21554267|PMID:22461308|PMID:23024289|PMID:24033266|PMID:25077900|PMID:25741868|PMID:28492532|PMID:28991257
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:24033266|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1115	sarcoma		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:11162	respiratory failure		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:11193	syndactyly		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:16763960|PMID:18073582|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:11199	hypoparathyroidism		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:11383	cryptorchidism		ISO	RGD:1323630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism	PMID:16400610|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532|PMID:29300383
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1143	exotropia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:16400610|PMID:22399515|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:11714	gestational diabetes		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:16763960|PMID:18073582|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:11830	myopia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16155193|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22461308|PMID:22462537|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:11836	clubfoot		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:17684005|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:11975	coloboma of optic nerve		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coloboma of optic nerve | ClinVar Annotator: match by term: Morning glory syndrome	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:12270	coloboma		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chorioretinal coloboma | ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:15300250|PMID:16155193|PMID:16400610|PMID:16763960|PMID:17684005|PMID:18073582|PMID:18414213|PMID:19248844|PMID:20301296|PMID:20884005|PMID:21158681|PMID:21554267|PMID:22033296|PMID:22399515|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:26467025|PMID:26538304|PMID:26544072|PMID:28492532|PMID:29255276|PMID:29304373|PMID:31395954|PMID:31474762|PMID:31965297|PMID:36875494
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:12642	hiatus hernia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:18505430|PMID:24033266|PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:12849	autistic disorder		ISO	RGD:1323630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:12959	lagophthalmos		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lagophthalmos	PMID:16400610|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532|PMID:29300383
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1324	lung cancer		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:13620	patent foramen ovale		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:16400610|PMID:22399515|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31564432|PMID:32247258|PMID:8073582
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:16763960|PMID:18073582|PMID:18414213|PMID:18505430|PMID:21158681|PMID:21554267|PMID:22461308|PMID:24033266|PMID:25077900|PMID:25741868|PMID:28492532|PMID:32247258
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:13934	facial paralysis		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial palsy | ClinVar Annotator: match by term: facial palsy	PMID:16763960|PMID:18073582|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:13938	amenorrhea		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amenorrhea | ClinVar Annotator: match by term: Primary amenorrhea	PMID:16155193|PMID:18073582|PMID:20301296|PMID:20884005|PMID:22033296|PMID:22461308|PMID:25741868|PMID:26467025|PMID:26538304|PMID:26544072|PMID:28492532|PMID:29255276|PMID:29304373|PMID:31965297|PMID:32870266
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:14289	Ebstein anomaly		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ebstein anomaly	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:14448	46,XY complete gonadal dysgenesis		ISO	RGD:1323630	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY	PMID:25741868|PMID:33189935
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1459	hypothyroidism		ISO	RGD:1323630	D	RGD:8554872	20170207	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1485	cystic fibrosis		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis	PMID:16169932|PMID:16400610|PMID:18414213|PMID:20301296|PMID:22033296|PMID:22461308|PMID:22462537|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1573	communicating hydrocephalus		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Communicating hydrocephalus	PMID:18505430|PMID:24033266|PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1657	ventricular septal defect		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:16763960|PMID:18073582|PMID:18414213|PMID:18505430|PMID:21158681|PMID:21554267|PMID:22461308|PMID:24033266|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1682	congenital heart disease		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:16400610|PMID:22399515|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1686	glaucoma		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1826	epilepsy		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16169932|PMID:22461308|PMID:23024289|PMID:25077900|PMID:25741868|PMID:28492532|PMID:28991257
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:16400610|PMID:16763960|PMID:18073582|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22399515|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1891	optic nerve disease		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:16155193|PMID:20884005|PMID:21158681|PMID:22461308|PMID:25077900|PMID:28475860|PMID:28492532|PMID:29178447|PMID:33775524|PMID:33775534|PMID:39337901|PMID:41225491
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1909	melanoma		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:1924	hypogonadism		ISO	RGD:1323630	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:17684005|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:17684005|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:2340	craniosynostosis		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis	PMID:16169932|PMID:22461308|PMID:23024289|PMID:25077900|PMID:25741868|PMID:28492532|PMID:28991257
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker syndrome	PMID:18505430|PMID:24033266|PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:3275	thymoma		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:3459	breast carcinoma		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:15300250|PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:3614	Kallmann syndrome		ISO	RGD:1323630	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:4362	cervical cancer		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:4621	holoprosencephaly		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lobar holoprosencephaly	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1323630	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:5327	retinal detachment		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal detachment	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:535	sleep disorder		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:540	strabismus		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:630	genetic disease		ISO	RGD:1323630	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10590394|PMID:14626219|PMID:15300250|PMID:15666308|PMID:16155193|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17299439|PMID:17576681|PMID:17661815|PMID:17684005|PMID:18073582|PMID:18089695|PMID:18414213|PMID:18445044|PMID:18505430|PMID:18834967|PMID:19112063|PMID:20130577|PMID:20186815|PMID:20884005|PMID:21158681|PMID:21378379|PMID:21532573|PMID:21554267|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22461308|PMID:22462537|PMID:22495309|PMID:22539353|PMID:23378218|PMID:23526466|PMID:23533228|PMID:23849776|PMID:23883829|PMID:23885230|PMID:24033266|PMID:24840056|PMID:24862881|PMID:25077900|PMID:25356970|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26436962|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26663670|PMID:26813943|PMID:27562378|PMID:27884173|PMID:27884859|PMID:27899157|PMID:28475860|PMID:28492532|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:30311386|PMID:31042289|PMID:32870266|PMID:7651832|PMID:9326634|PMID:9536098
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:630	genetic disease		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15300250|PMID:16155193|PMID:16615981|PMID:17576681|PMID:17684005|PMID:18089695|PMID:18414213|PMID:18445044|PMID:18505430|PMID:18834967|PMID:19021638|PMID:19112063|PMID:20624498|PMID:21158681|PMID:21554267|PMID:22033296|PMID:22461308|PMID:22539353|PMID:23024289|PMID:23378218|PMID:23526466|PMID:23533228|PMID:24033266|PMID:24368733|PMID:24840056|PMID:25077900|PMID:25356970|PMID:25472840|PMID:25741868|PMID:26467025|PMID:26538304|PMID:28475860|PMID:28492532|PMID:29300383|PMID:29304373|PMID:29419413|PMID:30181649|PMID:30311386|PMID:30476936|PMID:31042289|PMID:31395954|PMID:32870266|PMID:33057194|PMID:34837038|PMID:35047002|PMID:35938004|PMID:35982159|PMID:36413997|PMID:36531499|PMID:9536098
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:630	genetic disease		ISO	RGD:1323630	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15300250|PMID:16155193|PMID:16615981|PMID:17576681|PMID:17684005|PMID:18089695|PMID:18414213|PMID:18445044|PMID:18505430|PMID:18834967|PMID:19021638|PMID:19112063|PMID:20624498|PMID:21158681|PMID:21554267|PMID:21995344|PMID:22033296|PMID:22461308|PMID:22462537|PMID:22539353|PMID:23024289|PMID:23378218|PMID:23533228|PMID:24033266|PMID:24368733|PMID:24840056|PMID:25077900|PMID:25356970|PMID:25472840|PMID:25741868|PMID:26467025|PMID:26538304|PMID:28492532|PMID:29419413|PMID:30181649|PMID:30311386|PMID:31395954|PMID:31628846|PMID:32851286|PMID:33057194|PMID:34837038|PMID:35047002|PMID:35938004|PMID:35982159|PMID:36413997|PMID:36531499|PMID:9536098
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:630	genetic disease		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15300250|PMID:16155193|PMID:17576681|PMID:17684005|PMID:18073582|PMID:18414213|PMID:18445044|PMID:18505430|PMID:18834967|PMID:19021638|PMID:20301296|PMID:20624498|PMID:20884005|PMID:21158681|PMID:21554267|PMID:22033296|PMID:22461308|PMID:22539353|PMID:23024289|PMID:23378218|PMID:23526466|PMID:23533228|PMID:24033266|PMID:24368733|PMID:24840056|PMID:25077900|PMID:25356970|PMID:25741868|PMID:26467025|PMID:26538304|PMID:26544072|PMID:28475860|PMID:28492532|PMID:29178447|PMID:29255276|PMID:29304373|PMID:29419413|PMID:30181649|PMID:30311386|PMID:30476936|PMID:31395954|PMID:31965297|PMID:32870266|PMID:33057194|PMID:33775524|PMID:33775534|PMID:34837038|PMID:35047002|PMID:35938004|PMID:35982159|PMID:36413997|PMID:36531499|PMID:39337901|PMID:41225491|PMID:9536098
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:6364	migraine		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:16400610|PMID:22399515|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	PMID:16155193|PMID:16763960|PMID:18073582|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22461308|PMID:22462537|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:16169932|PMID:22461308|PMID:23024289|PMID:25077900|PMID:25741868|PMID:28492532|PMID:28991257
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:674	cleft palate		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:16169932|PMID:16400610|PMID:16763960|PMID:17684005|PMID:18073582|PMID:18414213|PMID:18505430|PMID:21158681|PMID:21554267|PMID:22461308|PMID:23024289|PMID:24033266|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:28991257|PMID:29300383|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:83	cataract		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:8488	polyhydramnios		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:16155193|PMID:16169932|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22461308|PMID:22462537|PMID:23024289|PMID:25077900|PMID:25741868|PMID:28492532|PMID:28991257
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:850	lung disease		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:18505430|PMID:24033266|PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:16400610|PMID:18505430|PMID:22461308|PMID:24033266|PMID:25077900|PMID:25741868|PMID:28492532|PMID:29300383
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:16155193|PMID:20884005|PMID:21158681|PMID:22461308|PMID:25077900|PMID:28475860|PMID:28492532|PMID:29178447|PMID:33775524|PMID:33775534|PMID:39337901|PMID:41225491
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9000781	Cyanosis		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cyanosis	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9000837	Esophageal Stenosis		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal stenosis	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9001031	Retrognathia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:18505430|PMID:24033266|PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:16400610|PMID:22399515|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:16155193|PMID:20884005|PMID:21158681|PMID:22461308|PMID:25077900|PMID:28475860|PMID:28492532|PMID:29178447|PMID:33775524|PMID:33775534|PMID:39337901|PMID:41225491
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9001425	Triphalangeal Thumb		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Triphalangeal thumb	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:16400610|PMID:17684005|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:29300383|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9001510	Funnel Chest		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:16155193|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22461308|PMID:22462537|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9001561	Pseudovaginal Perineoscrotal Hypospadias		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:16169932|PMID:22461308|PMID:23024289|PMID:25077900|PMID:25741868|PMID:28492532|PMID:28991257
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9001581	Constipation		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:9326634
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9002049	Anophthalmia		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anophthalmia	PMID:16155193|PMID:18073582|PMID:20301296|PMID:20884005|PMID:22033296|PMID:22461308|PMID:25741868|PMID:26467025|PMID:26538304|PMID:26544072|PMID:28492532|PMID:29255276|PMID:29304373|PMID:31965297
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9002112	Wiedemann-Steiner syndrome		ISO	RGD:1323630	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Wiedemann-Steiner syndrome	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1323630	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:17684005|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9002805	Enterocolitis		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enterocolitis	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intracranial hemorrhage	PMID:18505430|PMID:24033266|PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9003133	Hypertelorism		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:16169932|PMID:16400610|PMID:18505430|PMID:22399515|PMID:22461308|PMID:23024289|PMID:24033266|PMID:25077900|PMID:25741868|PMID:28492532|PMID:28991257
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1323630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:17684005|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9003507	Premature Birth		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:18505430|PMID:24033266|PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9003700	Tracheobronchomalacia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheobronchomalacia	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9003766	46, XY Disorders of Sex Development		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 46 XY differences of sex development	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:1323630	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9004226	Hittner Hirsch Kreh Syndrome		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome	PMID:16155193|PMID:16199547|PMID:16400610|PMID:16615981|PMID:17576681|PMID:17684005|PMID:18073582|PMID:18414213|PMID:18445044|PMID:18484313|PMID:18834967|PMID:20301296|PMID:20884005|PMID:21158681|PMID:21196067|PMID:22033296|PMID:22399515|PMID:22461308|PMID:22539353|PMID:23378218|PMID:23526466|PMID:23533228|PMID:23849776|PMID:24033266|PMID:24368733|PMID:24755471|PMID:24979395|PMID:25064402|PMID:25077900|PMID:25383892|PMID:25472840|PMID:25741868|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:27061523|PMID:27884173|PMID:28191889|PMID:28475860|PMID:28492532|PMID:28554332|PMID:28991257|PMID:29178447|PMID:29255276|PMID:29300383|PMID:29304373|PMID:29419413|PMID:30049826|PMID:30098700|PMID:30311386|PMID:30476936|PMID:30733481|PMID:31289371|PMID:31395954|PMID:31689711|PMID:31729160|PMID:31941532|PMID:31965297|PMID:32368696|PMID:32804436|PMID:32870266|PMID:33142350|PMID:33502061|PMID:33775524|PMID:33775534|PMID:34837038|PMID:35015700|PMID:35047002|PMID:35778651|PMID:36531499|PMID:36794641|PMID:36833263|PMID:39337901|PMID:41225491|PMID:9536098
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:22033296|PMID:25741868|PMID:28492532|PMID:35047002
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:15300250|PMID:16155193|PMID:16169932|PMID:16400610|PMID:16763960|PMID:17684005|PMID:18073582|PMID:18414213|PMID:20884005|PMID:21158681|PMID:21554267|PMID:22399515|PMID:22461308|PMID:22462537|PMID:23024289|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28475860|PMID:28492532|PMID:28991257|PMID:29178447|PMID:30311386|PMID:31395954|PMID:33775524|PMID:33775534|PMID:39337901|PMID:41225491
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9004866	Ataxia		ISO	RGD:1323630	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:17684005|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9004934	BILATERAL CLEFT LIP		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cleft lip	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9005077	Joint Instability		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:16400610|PMID:17684005|PMID:22399515|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9005616	Micrognathism		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:17684005|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31395954|PMID:31564432|PMID:8073582
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9005640	Complete Atrioventricular Septal Defect		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complete atrioventricular canal	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:1323630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:17253929|PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:25356970
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16169932|PMID:22461308|PMID:23024289|PMID:25077900|PMID:25741868|PMID:28492532|PMID:28991257
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16400610|PMID:17684005|PMID:18073582|PMID:18445044|PMID:21158681|PMID:22399515|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:27884859|PMID:28492532|PMID:29300383|PMID:31395954|PMID:31564432
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:16763960|PMID:18073582|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9008582	Developmental Disease		ISO	RGD:1323630	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:16400610|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532|PMID:29300383
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media with effusion	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:17684005|PMID:18505430|PMID:22461308|PMID:24033266|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:16763960|PMID:18073582|PMID:18414213|PMID:18505430|PMID:21158681|PMID:21554267|PMID:22461308|PMID:24033266|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9296	cleft lip		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:16400610|PMID:16763960|PMID:18073582|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532|PMID:29300383
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9574	choanal atresia		ISO	RGD:1323630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Choanal atresia	PMID:15300250|PMID:16400610|PMID:19248844|PMID:21158681|PMID:25741868|PMID:31474762|PMID:36875494
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:16400610|PMID:22399515|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9837	hypertropia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertropia	PMID:16400610|PMID:22399515|PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:16763960|PMID:17684005|PMID:18073582|PMID:18414213|PMID:21158681|PMID:21554267|PMID:22461308|PMID:24368733|PMID:25077900|PMID:25741868|PMID:28492532|PMID:31395954
1311921	Chd7	chromodomain helicase DNA binding protein 7	gene	DOID:9993	hypoglycemia		ISO	RGD:1323630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:22461308|PMID:25077900|PMID:25741868|PMID:28492532
1311922	Ttll6	tubulin tyrosine ligase like 6	gene	DOID:4362	cervical cancer		ISO	RGD:1605245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311922	Ttll6	tubulin tyrosine ligase like 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1605245	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:0060260	ptosis		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28135719|PMID:29463886|PMID:30397230
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:0070668	Snijders Blok-Campeau syndrome		ISO	RGD:1349317	D	RGD:7240710	20190329	OMIM			
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:0070668	Snijders Blok-Campeau syndrome		ISO	RGD:1349317	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CHD3-Related Disorder | ClinVar Annotator: match by term: CHD3-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SPEECH DELAY, AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: SNIJDERS BLOK-CAMPEAU SYNDROME | ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:29463886|PMID:29758562|PMID:30192042|PMID:30397230|PMID:30564305|PMID:32483341|PMID:33057194|PMID:33358638|PMID:35346573|PMID:35468861|PMID:35982159|PMID:36114283|PMID:37761804|PMID:38958063
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:1059	intellectual disability		ISO	RGD:1349317	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28135719|PMID:28492532|PMID:29463886|PMID:30397230|PMID:35346573
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:1059	intellectual disability		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, borderline | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28135719|PMID:29463886|PMID:30397230|PMID:32483341|PMID:35346573|PMID:38958063
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:11830	myopia		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:11836	clubfoot		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28135719|PMID:29463886|PMID:30397230
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:12849	autistic disorder		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:1826	epilepsy		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:1909	melanoma		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1349317	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:3312	bipolar disorder		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:480	movement disease		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:4905	pancreatic carcinoma	disease_progression	IEP		D	RGD:9587766|PMID:21472101	20141017	RGD		protein:increased expression:pancreas	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:540	strabismus		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28135719|PMID:29463886|PMID:30397230
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:5419	schizophrenia		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:543	dystonia		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:630	genetic disease		ISO	RGD:1349317	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15988005|PMID:25741868|PMID:28135719|PMID:28518168|PMID:29463886|PMID:30397230|PMID:32461654|PMID:32483341|PMID:38958063|PMID:8871545|PMID:9688266
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:8541	Sezary's disease		ISO	RGD:1349317	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9000121	Malocclusion		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malocclusion	PMID:25741868
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9000495	Tremor		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1349317	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1349317	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: cognitive impairment	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28135719|PMID:29463886|PMID:30397230
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28135719|PMID:29463886|PMID:30397230
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1349317	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349317	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:25741868|PMID:30397230
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1349317	D	RGD:8554872	20191015	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:30397230
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9007573	Flatfoot		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:30397230
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890|PMID:30397230
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9008582	Developmental Disease		ISO	RGD:1349317	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9008675	Dyskinesias		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
1311923	Chd3	chromodomain helicase DNA binding protein 3	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:30397230
1311925	Mcrip1	MAPK regulated co-repressor interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311925	Mcrip1	MAPK regulated co-repressor interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1603840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311925	Mcrip1	MAPK regulated co-repressor interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311926	Med19	mediator complex subunit 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344644	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311926	Med19	mediator complex subunit 19	gene	DOID:1059	intellectual disability		ISO	RGD:1344644	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1311926	Med19	mediator complex subunit 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1344644	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311927	Anapc7	anaphase promoting complex subunit 7	gene	DOID:0070677	Ferguson-Bonni neurodevelopmental syndrome		ISO	RGD:1344930	D	RGD:7240710	20220316	OMIM			
1311927	Anapc7	anaphase promoting complex subunit 7	gene	DOID:0070677	Ferguson-Bonni neurodevelopmental syndrome		ISO	RGD:1344930	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Ferguson-Bonni neurodevelopmental syndrome	PMID:25741868|PMID:34942119
1311927	Anapc7	anaphase promoting complex subunit 7	gene	DOID:0070677	Ferguson-Bonni neurodevelopmental syndrome		ISS	RGD:1323638	D	RGD:13592920	20260507	MouseDO		OMIM:619699	
1311927	Anapc7	anaphase promoting complex subunit 7	gene	DOID:10534	stomach cancer		ISO	RGD:1344930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311927	Anapc7	anaphase promoting complex subunit 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311927	Anapc7	anaphase promoting complex subunit 7	gene	DOID:4362	cervical cancer		ISO	RGD:1344930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311927	Anapc7	anaphase promoting complex subunit 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311927	Anapc7	anaphase promoting complex subunit 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311927	Anapc7	anaphase promoting complex subunit 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311927	Anapc7	anaphase promoting complex subunit 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311927	Anapc7	anaphase promoting complex subunit 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1344930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311928	Slc1a7	solute carrier family 1 member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311928	Slc1a7	solute carrier family 1 member 7	gene	DOID:0080600	COVID-19		ISO	RGD:1323639	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311928	Slc1a7	solute carrier family 1 member 7	gene	DOID:10534	stomach cancer		ISO	RGD:1323639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311928	Slc1a7	solute carrier family 1 member 7	gene	DOID:1324	lung cancer		ISO	RGD:1323639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311928	Slc1a7	solute carrier family 1 member 7	gene	DOID:1909	melanoma		ISO	RGD:1323639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311928	Slc1a7	solute carrier family 1 member 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311928	Slc1a7	solute carrier family 1 member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1323639	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311928	Slc1a7	solute carrier family 1 member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323639	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311929	Ccdc43	coiled-coil domain containing 43	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311929	Ccdc43	coiled-coil domain containing 43	gene	DOID:10534	stomach cancer		ISO	RGD:1606980	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311929	Ccdc43	coiled-coil domain containing 43	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606980	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1311929	Ccdc43	coiled-coil domain containing 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311929	Ccdc43	coiled-coil domain containing 43	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311930	Cmah	cytidine monophospho-N-acetylneuraminic acid hydroxylase	gene	DOID:2377	multiple sclerosis		ISO	RGD:1352628	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:10762	portal hypertension		ISO	RGD:1323642	D	RGD:11528851|PMID:26627607	20191107	RGD		protein:increased expression:mesentary	
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:10762	portal hypertension	treatment	ISO	RGD:1323643	D	RGD:11528851|PMID:26627607	20191107	RGD			
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1323642	D	RGD:11528851|PMID:26627607	20191107	RGD		protein:increased expression:liver	
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:3070	high grade glioma		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:3275	thymoma		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1323642	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:5082	liver cirrhosis		ISO	RGD:1323642	D	RGD:11528851|PMID:26627607	20191107	RGD		associated with Hepatitis C, Chronic; protein:increased expression:liver	
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1311931	Cpeb4	cytoplasmic polyadenylation element binding protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311932	Dynlt5	dynein light chain Tctex-type family member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311932	Dynlt5	dynein light chain Tctex-type family member 5	gene	DOID:1115	sarcoma		ISO	RGD:1603544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311932	Dynlt5	dynein light chain Tctex-type family member 5	gene	DOID:1324	lung cancer		ISO	RGD:1603544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311932	Dynlt5	dynein light chain Tctex-type family member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1603544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311932	Dynlt5	dynein light chain Tctex-type family member 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603544	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311932	Dynlt5	dynein light chain Tctex-type family member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311933	Leg1	liver enriched gene 1	gene	DOID:1909	melanoma		ISO	RGD:1350193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:10534	stomach cancer		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:10983	Alport syndrome		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alport syndrome	PMID:27657687
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:1115	sarcoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:1324	lung cancer		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:1612	breast cancer		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:18	urinary system disease		ISO	RGD:1323647	D	RGD:8554872	20211214	ClinVar		ClinVar Annotator: match by term: Abnormality of the urinary system	
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:1909	melanoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:2394	ovarian cancer		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:303	substance-related disorder		ISO	RGD:1323647	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:3275	thymoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:4362	cervical cancer		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1323647	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1323647	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:6039	uveal melanoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1311935	Chd1l	chromodomain helicase DNA binding protein 1-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1311936	Rnf20	ring finger protein 20	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311936	Rnf20	ring finger protein 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311936	Rnf20	ring finger protein 20	gene	DOID:1324	lung cancer		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311936	Rnf20	ring finger protein 20	gene	DOID:1612	breast cancer		ISO	RGD:1323649	D	RGD:9831404|PMID:18832071	20150305	RGD		DNA:hypermethylation:promoter (human)	
1311936	Rnf20	ring finger protein 20	gene	DOID:1909	melanoma		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311936	Rnf20	ring finger protein 20	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311936	Rnf20	ring finger protein 20	gene	DOID:3070	high grade glioma		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311936	Rnf20	ring finger protein 20	gene	DOID:3275	thymoma		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311936	Rnf20	ring finger protein 20	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311936	Rnf20	ring finger protein 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311936	Rnf20	ring finger protein 20	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311936	Rnf20	ring finger protein 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311936	Rnf20	ring finger protein 20	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311936	Rnf20	ring finger protein 20	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311936	Rnf20	ring finger protein 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311936	Rnf20	ring finger protein 20	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1323649	D	RGD:9831407|PMID:21136906	20150305	RGD		protein:increased expression:urine (human)	
1311936	Rnf20	ring finger protein 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311936	Rnf20	ring finger protein 20	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311936	Rnf20	ring finger protein 20	gene	DOID:9953	acute biphenotypic leukemia	disease_progression	ISO	RGD:1323650	D	RGD:9831405|PMID:23412334	20150305	RGD			
1311937	Tmem125	transmembrane protein 125	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311937	Tmem125	transmembrane protein 125	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:0050773	paraganglioma		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:0050908	myelodysplastic syndrome		ISS	RGD:1323653	D	RGD:13592920	20180518	MouseDO		OMIM:614286	
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532|PMID:29684080
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1323652	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Adenocystic carcinoma	PMID:21642991|PMID:24894717|PMID:26166446|PMID:26452128|PMID:28492532
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adenoid cystic carcinoma	
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:10907	microcephaly		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:16199547|PMID:21874000|PMID:23684012|PMID:28492532
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:11830	myopia		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1240	leukemia		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:38969833
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25741868|PMID:26011428|PMID:28492532|PMID:33240524|PMID:35101336|PMID:37556531
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:169	neuroendocrine tumor		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1323652	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:24928783|PMID:25231345|PMID:26463840|PMID:26928227|PMID:29112861
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1323653	D	RGD:9586039|PMID:24928783	20140925	RGD			
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1791	peritoneal carcinoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary peritoneal carcinoma	PMID:25741868
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1826	epilepsy		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:1909	melanoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:26719535
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1323652	D	RGD:9586038|PMID:25080371	20140925	RGD			
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:263	kidney cancer		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: kidney cancer	PMID:21874000|PMID:23684012|PMID:26845104|PMID:28492532
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:2841	asthma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astrocytoma	PMID:25741868|PMID:28560743|PMID:38969833
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3275	thymoma		ISO	RGD:1323652	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24974848
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3275	thymoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3315	lipoma		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1323652	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Ewing sarcoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3495	extrahepatic bile duct adenocarcinoma	disease_progression	ISO	RGD:1323652	D	RGD:150340631|PMID:25536104	20210824	RGD			
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3565	meningioma		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3651	pyruvate carboxylase deficiency disease		ISO	RGD:1323652	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Pyruvate carboxylase deficiency	PMID:21874000|PMID:23684012|PMID:25687217|PMID:25741868|PMID:26556299|PMID:26683624|PMID:26719535|PMID:28492532|PMID:28793149|PMID:32002398
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1323652	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian carcinoma	PMID:25741868
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:420	hypertrichosis		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691|PMID:22683710|PMID:23797736|PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney | ClinVar Annotator: match by term: clear cell renal cell carcinoma	PMID:25741868|PMID:28492532|PMID:35483881|PMID:35992853|PMID:38969833|PMID:41015595
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:4531	mucoepidermoid carcinoma		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1323652	D	RGD:150340628|PMID:27864835	20210823	RGD			
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:24185509|PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:5374	pilomatrixoma		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pilomatrixoma	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1323652	D	RGD:11554173	20260414	CTD		CTD Direct Evidence: marker/mechanism	PMID:21874000|PMID:25231345|PMID:26719535
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1323652	D	RGD:7240710	20260729	OMIM			
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 2 | ClinVar Annotator: match by term: Uveal melanoma	PMID:21874000|PMID:23684012|PMID:25741868|PMID:26409435|PMID:26467025|PMID:26683624|PMID:27718540|PMID:28034829|PMID:28492532|PMID:28560743|PMID:30306255|PMID:31186267|PMID:33240524|PMID:35101336|PMID:35777164|PMID:35885614|PMID:36513904|PMID:38969833
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:6039	uveal melanoma	disease_progression	ISO	RGD:1323652	D	RGD:9586037|PMID:25147369	20140925	RGD		mRNA,protein:decreased expression: :	
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:7474	malignant pleural mesothelioma	disease_progression	ISO	RGD:1323652	D	RGD:127229946|PMID:27422796	20210604	RGD			
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:7765	Coats disease		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Exudative retinopathy	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:8923	skin melanoma		ISO	RGD:1323652	D	RGD:11554173	20241224	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345|PMID:26719535
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345|PMID:26719535
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:24928783
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9001326	Nevus, Epithelioid and Spindle Cell		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002089	Tumor Predisposition Syndrome 1		ISO	RGD:1323652	D	RGD:7240710	20260729	OMIM			
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002089	Tumor Predisposition Syndrome 1		ISO	RGD:1323652	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BAP1 tumor predisposition syndrome | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations	PMID:1189319|PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:19763152|PMID:20307669|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22406018|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23550303|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24187051|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25830670|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:26928227|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29478780|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:29978187|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30376426|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30639226|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31409087|PMID:31447071|PMID:31465090|PMID:31635116|PMID:31721094|PMID:31761620|PMID:31887429|PMID:31895725|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32583627|PMID:32649346|PMID:32782288|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:34976173|PMID:35032816|PMID:35051358|PMID:35171259|PMID:35360426|PMID:35441217|PMID:35483881|PMID:35534704|PMID:35777164|PMID:35849291|PMID:35885614|PMID:35957908|PMID:35980532|PMID:35988656|PMID:35992853|PMID:36031433|PMID:36451132|PMID:36513904|PMID:36653904|PMID:36863448|PMID:37265265|PMID:38969833|PMID:9536098
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002089	Tumor Predisposition Syndrome 1		ISO	RGD:1323652	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BAP1 Cancer Syndrome | ClinVar Annotator: match by term: BAP1 tumor predisposition syndrome | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations	PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:19763152|PMID:20307669|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22406018|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23550303|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24187051|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25830670|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26416890|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:26928227|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29478780|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:29978187|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30376426|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30639226|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31409087|PMID:31447071|PMID:31465090|PMID:31635116|PMID:31721094|PMID:31761620|PMID:31887429|PMID:31895725|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32583627|PMID:32649346|PMID:32782288|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:34976173|PMID:35032816|PMID:35051358|PMID:35171259|PMID:35360426|PMID:35441217|PMID:35483881|PMID:35534704|PMID:35700825|PMID:35777164|PMID:35849291|PMID:35885614|PMID:35957908|PMID:35980532|PMID:35988656|PMID:35992853|PMID:36031433|PMID:36451132|PMID:36513904|PMID:36653904|PMID:36863448|PMID:37265265|PMID:38969833|PMID:9536098
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002089	Tumor Predisposition Syndrome 1		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BAP1 tumor predisposition syndrome | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations	PMID:16199547|PMID:21874000|PMID:21874003|PMID:23171164|PMID:23684012|PMID:24243779|PMID:25741868|PMID:25787093|PMID:25974357|PMID:26011428|PMID:26140217|PMID:26452128|PMID:26467025|PMID:26719535|PMID:28062663|PMID:28492532|PMID:28767289|PMID:28793149|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30306255|PMID:30338612|PMID:30477459|PMID:30517737|PMID:30639226|PMID:30980208|PMID:31058963|PMID:31382929|PMID:31635116|PMID:31921681|PMID:32068069|PMID:33240524|PMID:33600035|PMID:33606809|PMID:35051358|PMID:35101336|PMID:35441217|PMID:35885614|PMID:35988656|PMID:36451132|PMID:37265265|PMID:37556531|PMID:38824259|PMID:38833603|PMID:38969833
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002189	High Myopia		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:26719535
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9002969	Nevus		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:21642991|PMID:21874000|PMID:26119930|PMID:26719535
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9004389	Bone Neoplasms		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:28665402|PMID:28935764|PMID:29284740|PMID:35051358|PMID:35101336
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9004692	Fused Teeth		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Teeth, fused	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9004799	KURY-ISIDOR SYNDROME		ISO	RGD:1323652	D	RGD:7240710	20260729	OMIM			
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9004799	KURY-ISIDOR SYNDROME		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kury-Isidor syndrome	PMID:21874000|PMID:23684012|PMID:24347639|PMID:25741868|PMID:26409435|PMID:26467025|PMID:26683624|PMID:27718540|PMID:28034829|PMID:28492532|PMID:28560743|PMID:30306255|PMID:33240524|PMID:35051358|PMID:35101336|PMID:35777164|PMID:35885614|PMID:36513904|PMID:38506155|PMID:38969833
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:26719535
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9005825	Nevi and Melanomas		ISO	RGD:1323652	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21874003
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9006617	Fatigue		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:28492532|PMID:38969833
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323652	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1189319|PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29061454|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31465090|PMID:31761620|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32583627|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:35051358|PMID:35171259|PMID:35441217|PMID:35483881|PMID:35777164|PMID:35849291|PMID:35885614|PMID:35992853|PMID:36031433|PMID:36513904|PMID:36653904|PMID:9536098
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323652	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1189319|PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29061454|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31465090|PMID:31761620|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32583627|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:35051358|PMID:35114507|PMID:35171259|PMID:35360426|PMID:35441217|PMID:35483881|PMID:35777164|PMID:35849291|PMID:35885614|PMID:35920959|PMID:35992853|PMID:36031433|PMID:36451132|PMID:36513904|PMID:36653904|PMID:37556141|PMID:9536098
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323652	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1189319|PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:26928227|PMID:27015033|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29061454|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30376426|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30639226|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31447071|PMID:31465090|PMID:31635116|PMID:31721094|PMID:31761620|PMID:31887429|PMID:31895725|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32583627|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:34976173|PMID:35051358|PMID:35114507|PMID:35171259|PMID:35360426|PMID:35441217|PMID:35483881|PMID:35777164|PMID:35849291|PMID:35885614|PMID:35920959|PMID:35980532|PMID:35992853|PMID:36031433|PMID:36451132|PMID:36513904|PMID:36653904|PMID:37265265|PMID:37556141|PMID:38969833|PMID:9536098
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323652	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1189319|PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24705312|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:26928227|PMID:27015033|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:27854218|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29061454|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30376426|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30639226|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31447071|PMID:31465090|PMID:31635116|PMID:31721094|PMID:31761620|PMID:31887429|PMID:31895725|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32509949|PMID:32583627|PMID:32649346|PMID:32782288|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:34661178|PMID:34976173|PMID:35032816|PMID:35051358|PMID:35114507|PMID:35171259|PMID:35360426|PMID:35441217|PMID:35483881|PMID:35534704|PMID:35700825|PMID:35777164|PMID:35849291|PMID:35885614|PMID:35920959|PMID:35957908|PMID:35980532|PMID:35988656|PMID:35992853|PMID:36031433|PMID:36451132|PMID:36513904|PMID:36653904|PMID:36773602|PMID:36863448|PMID:37265265|PMID:37556141|PMID:38969833|PMID:9536098
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323652	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24705312|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26416890|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:26928227|PMID:27015033|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29061454|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30376426|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30639226|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31447071|PMID:31465090|PMID:31635116|PMID:31721094|PMID:31761620|PMID:31887429|PMID:31895725|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32509949|PMID:32583627|PMID:32649346|PMID:32782288|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:34661178|PMID:34976173|PMID:35032816|PMID:35051358|PMID:35114507|PMID:35171259|PMID:35360426|PMID:35441217|PMID:35483881|PMID:35534704|PMID:35700825|PMID:35777164|PMID:35849291|PMID:35885614|PMID:35920959|PMID:35957908|PMID:35980532|PMID:35988656|PMID:35992853|PMID:36031433|PMID:36451132|PMID:36513904|PMID:36653904|PMID:36773602|PMID:36863448|PMID:37265265|PMID:37556141|PMID:38969833|PMID:9536098
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1058963|PMID:16199547|PMID:17576681|PMID:18757409|PMID:21642991|PMID:21874000|PMID:21874003|PMID:22545102|PMID:22683710|PMID:22935333|PMID:23171164|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24705312|PMID:24894717|PMID:25501392|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26416890|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26719535|PMID:26876698|PMID:26928227|PMID:27015033|PMID:27123562|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29351919|PMID:29368341|PMID:29641532|PMID:29684080|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30113886|PMID:30306255|PMID:30338612|PMID:30376426|PMID:30414346|PMID:30477459|PMID:30517737|PMID:30548481|PMID:30639226|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31635116|PMID:31721094|PMID:31887429|PMID:31895725|PMID:31921681|PMID:32068069|PMID:32325837|PMID:32509949|PMID:32583627|PMID:32649346|PMID:32782288|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34661178|PMID:34976173|PMID:35032816|PMID:35051358|PMID:35101336|PMID:35114507|PMID:35360426|PMID:35441217|PMID:35534704|PMID:35777164|PMID:35885614|PMID:35920959|PMID:35988656|PMID:36031433|PMID:36451132|PMID:36513904|PMID:36773602|PMID:37265265|PMID:37556141|PMID:37556531|PMID:37956408|PMID:38824259|PMID:38833603|PMID:38969833|PMID:9536098
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1323652	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9007701	Central Nervous System Neoplasms		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:35051358|PMID:38969833
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323652	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231345|PMID:26719535
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9538	multiple myeloma		ISO	RGD:1323652	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1323652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:35051358
1311938	Bap1	BRCA1 associated deubiquitinase 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1323652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:28492532|PMID:38969833
1311939	Pkdcc	protein kinase domain containing, cytoplasmic	gene	DOID:10534	stomach cancer		ISO	RGD:1605897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311939	Pkdcc	protein kinase domain containing, cytoplasmic	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311939	Pkdcc	protein kinase domain containing, cytoplasmic	gene	DOID:3275	thymoma		ISO	RGD:1605897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311939	Pkdcc	protein kinase domain containing, cytoplasmic	gene	DOID:630	genetic disease		ISO	RGD:1605897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311939	Pkdcc	protein kinase domain containing, cytoplasmic	gene	DOID:9003152	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES		ISO	RGD:1605897	D	RGD:7240710	20200819	OMIM			
1311939	Pkdcc	protein kinase domain containing, cytoplasmic	gene	DOID:9003152	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES		ISO	RGD:1605897	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: PKDCC-related condition | ClinVar Annotator: match by term: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES | ClinVar Annotator: match by term: Rhizomelic limb shortening with dysmorphic features	PMID:16199547|PMID:19097194|PMID:25741868|PMID:28492532|PMID:30478137|PMID:36896672
1311939	Pkdcc	protein kinase domain containing, cytoplasmic	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311939	Pkdcc	protein kinase domain containing, cytoplasmic	gene	DOID:9360	intrinsic asthma	severity	ISO	RGD:1605897	D	RGD:629107246|PMID:24407380	20251205	RGD		DNA:SNP: :rs1440095	
1311940	Slc17a9	solute carrier family 17 member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311940	Slc17a9	solute carrier family 17 member 9	gene	DOID:1115	sarcoma		ISO	RGD:1323655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311940	Slc17a9	solute carrier family 17 member 9	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1323655	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1311940	Slc17a9	solute carrier family 17 member 9	gene	DOID:1909	melanoma		ISO	RGD:1323655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311940	Slc17a9	solute carrier family 17 member 9	gene	DOID:3805	porokeratosis		ISO	RGD:1323655	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: disseminated superficial actinic porokeratosis	PMID:25741868
1311940	Slc17a9	solute carrier family 17 member 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311940	Slc17a9	solute carrier family 17 member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311940	Slc17a9	solute carrier family 17 member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311940	Slc17a9	solute carrier family 17 member 9	gene	DOID:9006909	Porokeratosis, Disseminated Superficial Actinic, 8		ISO	RGD:1323655	D	RGD:7240710	20170405	OMIM			
1311940	Slc17a9	solute carrier family 17 member 9	gene	DOID:9006909	Porokeratosis, Disseminated Superficial Actinic, 8		ISO	RGD:1323655	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE | ClinVar Annotator: match by term: Porokeratosis 8, disseminated superficial actinic type | ClinVar Annotator: match by term: SLC17A9-related condition	PMID:25741868|PMID:28492532
1311940	Slc17a9	solute carrier family 17 member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311940	Slc17a9	solute carrier family 17 member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311941	Asf1a	anti-silencing function 1A histone chaperone	gene	DOID:1909	melanoma		ISO	RGD:1323657	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1311942	Nup85	nucleoporin 85	gene	DOID:0060058	lymphoma		ISO	RGD:1323659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1311942	Nup85	nucleoporin 85	gene	DOID:0080392	nephrotic syndrome type 17		ISO	RGD:1323659	D	RGD:7240710	20190315	OMIM			
1311942	Nup85	nucleoporin 85	gene	DOID:0080392	nephrotic syndrome type 17		ISO	RGD:1323659	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 17 | ClinVar Annotator: match by term: NUP85-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 17 | ClinVar Annotator: match by term: nephrotic syndrome, type 17	PMID:25741868|PMID:28492532|PMID:39949197
1311942	Nup85	nucleoporin 85	gene	DOID:10534	stomach cancer		ISO	RGD:1323659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311942	Nup85	nucleoporin 85	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311942	Nup85	nucleoporin 85	gene	DOID:1115	sarcoma		ISO	RGD:1323659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311942	Nup85	nucleoporin 85	gene	DOID:1324	lung cancer		ISO	RGD:1323659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1311942	Nup85	nucleoporin 85	gene	DOID:1909	melanoma		ISO	RGD:1323659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311942	Nup85	nucleoporin 85	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311942	Nup85	nucleoporin 85	gene	DOID:3275	thymoma		ISO	RGD:1323659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311942	Nup85	nucleoporin 85	gene	DOID:4362	cervical cancer		ISO	RGD:1323659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311942	Nup85	nucleoporin 85	gene	DOID:5041	esophageal cancer		ISO	RGD:1323659	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311942	Nup85	nucleoporin 85	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311942	Nup85	nucleoporin 85	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311942	Nup85	nucleoporin 85	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311942	Nup85	nucleoporin 85	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311942	Nup85	nucleoporin 85	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1311943	Nans	N-acetylneuraminate synthase	gene	DOID:0080006	bone development disease		ISO	RGD:1323660	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27213289
1311943	Nans	N-acetylneuraminate synthase	gene	DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type		ISO	RGD:1323660	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311943	Nans	N-acetylneuraminate synthase	gene	DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type		ISO	RGD:1323660	D	RGD:7240710	20190315	OMIM			
1311943	Nans	N-acetylneuraminate synthase	gene	DOID:12712	nephronophthisis		ISO	RGD:1323660	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:12872123|PMID:28492532
1311943	Nans	N-acetylneuraminate synthase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323660	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27213289
1311944	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311944	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311944	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311944	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311944	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311944	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311944	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311944	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311944	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603635	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311944	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311944	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603635	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: neurodevelopmental disorder	PMID:25741868
1311944	Itfg2	integrin alpha FG-GAP repeat containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311945	Acin1	apoptotic chromatin condensation inducer 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311945	Acin1	apoptotic chromatin condensation inducer 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311945	Acin1	apoptotic chromatin condensation inducer 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311945	Acin1	apoptotic chromatin condensation inducer 1	gene	DOID:1324	lung cancer		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311945	Acin1	apoptotic chromatin condensation inducer 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323663	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311945	Acin1	apoptotic chromatin condensation inducer 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311945	Acin1	apoptotic chromatin condensation inducer 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323663	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311945	Acin1	apoptotic chromatin condensation inducer 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311945	Acin1	apoptotic chromatin condensation inducer 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311945	Acin1	apoptotic chromatin condensation inducer 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311945	Acin1	apoptotic chromatin condensation inducer 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311945	Acin1	apoptotic chromatin condensation inducer 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311946	C1h11orf24	similar to human chromosome 11 open reading frame 24	gene	DOID:1324	lung cancer		ISO	RGD:1323665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311946	C1h11orf24	similar to human chromosome 11 open reading frame 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311946	C1h11orf24	similar to human chromosome 11 open reading frame 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311947	Npat	nuclear protein, co-activator of histone transcription	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311947	Npat	nuclear protein, co-activator of histone transcription	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1311947	Npat	nuclear protein, co-activator of histone transcription	gene	DOID:10534	stomach cancer		ISO	RGD:1323667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311947	Npat	nuclear protein, co-activator of histone transcription	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311947	Npat	nuclear protein, co-activator of histone transcription	gene	DOID:1909	melanoma		ISO	RGD:1323667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311947	Npat	nuclear protein, co-activator of histone transcription	gene	DOID:3275	thymoma		ISO	RGD:1323667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311947	Npat	nuclear protein, co-activator of histone transcription	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311947	Npat	nuclear protein, co-activator of histone transcription	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311947	Npat	nuclear protein, co-activator of histone transcription	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311947	Npat	nuclear protein, co-activator of histone transcription	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311947	Npat	nuclear protein, co-activator of histone transcription	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:1323667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:25741868
1311947	Npat	nuclear protein, co-activator of histone transcription	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311948	Cramp1	cramped chromatin regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311948	Cramp1	cramped chromatin regulator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311948	Cramp1	cramped chromatin regulator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311948	Cramp1	cramped chromatin regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311948	Cramp1	cramped chromatin regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323669	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311948	Cramp1	cramped chromatin regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311948	Cramp1	cramped chromatin regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311948	Cramp1	cramped chromatin regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1323669	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311951	Sphkap	SPHK1 interactor, AKAP domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311951	Sphkap	SPHK1 interactor, AKAP domain containing	gene	DOID:6000	congestive heart failure		ISO	RGD:1604287	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
1311952	Fam217b	family with sequence similarity 217, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311952	Fam217b	family with sequence similarity 217, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311953	Siglec1	sialic acid binding Ig like lectin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311953	Siglec1	sialic acid binding Ig like lectin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311953	Siglec1	sialic acid binding Ig like lectin 1	gene	DOID:1324	lung cancer		ISO	RGD:1323674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311953	Siglec1	sialic acid binding Ig like lectin 1	gene	DOID:1909	melanoma		ISO	RGD:1323674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311953	Siglec1	sialic acid binding Ig like lectin 1	gene	DOID:3275	thymoma		ISO	RGD:1323674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311953	Siglec1	sialic acid binding Ig like lectin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311953	Siglec1	sialic acid binding Ig like lectin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311953	Siglec1	sialic acid binding Ig like lectin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323674	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311953	Siglec1	sialic acid binding Ig like lectin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311953	Siglec1	sialic acid binding Ig like lectin 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1323674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311953	Siglec1	sialic acid binding Ig like lectin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311953	Siglec1	sialic acid binding Ig like lectin 1	gene	DOID:9001488	Human Influenza		ISO	RGD:1323674	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1311953	Siglec1	sialic acid binding Ig like lectin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311953	Siglec1	sialic acid binding Ig like lectin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348039	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:31209396
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:0060308	autosomal recessive intellectual developmental disorder		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental retardation, autosomal recessive	PMID:22541559|PMID:22577224|PMID:28492532
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:0081181	autosomal recessive intellectual developmental disorder 5		ISO	RGD:1348039	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:0081181	autosomal recessive intellectual developmental disorder 5		ISO	RGD:1348039	D	RGD:7240710	20130731	OMIM			
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:0081181	autosomal recessive intellectual developmental disorder 5		ISO	RGD:1348039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 5 | ClinVar Annotator: match by term: NSUN2-related condition	PMID:17576681|PMID:22541559|PMID:22577224|PMID:25741868|PMID:28492532|PMID:30214071|PMID:9536098
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1348039	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability	PMID:18414213|PMID:25741868|PMID:28492532|PMID:33098347
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17120046|PMID:17576681|PMID:22541559|PMID:22577224|PMID:25741868|PMID:28492532|PMID:32860008|PMID:9536098
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1348039	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:10907	microcephaly		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:11830	myopia		ISO	RGD:1348039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:12849	autistic disorder		ISO	RGD:1348039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1348039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17120046|PMID:22541559|PMID:22577224|PMID:25741868|PMID:28492532
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:1348039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22541559|PMID:22577224|PMID:25741868|PMID:28492532
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1348039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microtia	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:9001510	Funnel Chest		ISO	RGD:1348039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1348039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:9281	phenylketonuria		ISO	RGD:1348039	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Phenylketonuria	PMID:25741868
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:988	mitral valve prolapse		ISO	RGD:1348039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	
1311954	Nsun2	NOP2/Sun RNA methyltransferase 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1348039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute lymphoblastic leukemia	PMID:25741868
1311955	Fhdc1	FH2 domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311955	Fhdc1	FH2 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311955	Fhdc1	FH2 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311955	Fhdc1	FH2 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604560	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311955	Fhdc1	FH2 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311955	Fhdc1	FH2 domain containing 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1311955	Fhdc1	FH2 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311955	Fhdc1	FH2 domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1604560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311956	Trim59	tripartite motif-containing 59	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1349912	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311957	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311957	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:0050645	arterial tortuosity syndrome		ISS	RGD:1323680	D	RGD:13592920	20180518	MouseDO		OMIM:208050	
1311957	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311957	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311957	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311957	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:14323	Marfan syndrome		ISS	RGD:1323680	D	RGD:13592920	20180518	MouseDO		OMIM:154700	
1311957	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:1909	melanoma		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311957	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:3275	thymoma		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311957	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311957	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1323679	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311957	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311957	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:6039	uveal melanoma		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311957	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311957	Mus81	MUS81 structure-specific endonuclease subunit	gene	DOID:9675	pulmonary emphysema		ISS	RGD:1323680	D	RGD:13592920	20180518	MouseDO		OMIM:130700	
1311958	Fam81a	family with sequence similarity 81, member A	gene	DOID:10534	stomach cancer		ISO	RGD:1603268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311958	Fam81a	family with sequence similarity 81, member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603268	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311958	Fam81a	family with sequence similarity 81, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311958	Fam81a	family with sequence similarity 81, member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311958	Fam81a	family with sequence similarity 81, member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311959	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311959	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:10534	stomach cancer		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311959	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311959	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311959	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311959	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311959	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311959	Rab22a	RAB22A, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311960	Tmcc2	transmembrane and coiled-coil domain family 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311960	Tmcc2	transmembrane and coiled-coil domain family 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311960	Tmcc2	transmembrane and coiled-coil domain family 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311960	Tmcc2	transmembrane and coiled-coil domain family 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311961	Hlx	H2.0-like homeobox	gene	DOID:0080815	childhood-onset asthma	disease_progression	ISO	RGD:1323685	D	RGD:632527163|PMID:26691723	20260224	RGD		DNA:altered methylation:blood	
1311961	Hlx	H2.0-like homeobox	gene	DOID:0080815	childhood-onset asthma	susceptibility	ISO	RGD:1323685	D	RGD:626469546|PMID:19362357	20250915	RGD		DNA:SNPs:promoter,cds:-1407C>T,346T>C	
1311961	Hlx	H2.0-like homeobox	gene	DOID:0080815	childhood-onset asthma	susceptibility	ISO	RGD:1323685	D	RGD:632527158|PMID:19038437	20260223	RGD		DNA:SNPs, haplotype:multiple:multiple	
1311961	Hlx	H2.0-like homeobox	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311961	Hlx	H2.0-like homeobox	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311961	Hlx	H2.0-like homeobox	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311961	Hlx	H2.0-like homeobox	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311962	Pole2	DNA polymerase epsilon 2, accessory subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311962	Pole2	DNA polymerase epsilon 2, accessory subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1323687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311962	Pole2	DNA polymerase epsilon 2, accessory subunit	gene	DOID:1909	melanoma		ISO	RGD:1323687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311962	Pole2	DNA polymerase epsilon 2, accessory subunit	gene	DOID:3275	thymoma		ISO	RGD:1323687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311962	Pole2	DNA polymerase epsilon 2, accessory subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1323687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311962	Pole2	DNA polymerase epsilon 2, accessory subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311962	Pole2	DNA polymerase epsilon 2, accessory subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311962	Pole2	DNA polymerase epsilon 2, accessory subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311962	Pole2	DNA polymerase epsilon 2, accessory subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311962	Pole2	DNA polymerase epsilon 2, accessory subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:1115	sarcoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:1324	lung cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:3275	thymoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323690	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary cancer	PMID:25741868
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311964	Rbbp6	RB binding protein 6, ubiquitin ligase	gene	DOID:9256	colorectal cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1311967	Tubd1	tubulin, delta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311967	Tubd1	tubulin, delta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311967	Tubd1	tubulin, delta 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311967	Tubd1	tubulin, delta 1	gene	DOID:1115	sarcoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311967	Tubd1	tubulin, delta 1	gene	DOID:1148	polydactyly		ISO	RGD:1323696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868
1311967	Tubd1	tubulin, delta 1	gene	DOID:1909	melanoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311967	Tubd1	tubulin, delta 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311967	Tubd1	tubulin, delta 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311967	Tubd1	tubulin, delta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311967	Tubd1	tubulin, delta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311967	Tubd1	tubulin, delta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:0080575	Larsen-like syndrome B3GAT3 type		ISO	RGD:1323698	D	RGD:7240710	20180307	OMIM			
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:0080575	Larsen-like syndrome B3GAT3 type		ISO	RGD:1323698	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS	PMID:16199547|PMID:17576681|PMID:21763480|PMID:25741868|PMID:25893793|PMID:26086840|PMID:26633542|PMID:27271787|PMID:27871226|PMID:28229453|PMID:28492532|PMID:28771243|PMID:31196143|PMID:31438591|PMID:31988067|PMID:34537402|PMID:35000503|PMID:9536098
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:11111	hydronephrosis		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:16815917|PMID:25741868
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:1909	melanoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:16815917|PMID:25741868
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:3275	thymoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:630	genetic disease		ISO	RGD:1323698	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:35000503
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:16815917|PMID:25741868
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:9008189	Pyelectasis		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:16815917|PMID:25741868
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1323698	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
1311968	B3gat3	beta-1,3-glucuronyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1311970	Zc2hc1a	zinc finger, C2HC-type containing 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311971	Uqcrb	ubiquinol-cytochrome c reductase binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311971	Uqcrb	ubiquinol-cytochrome c reductase binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311971	Uqcrb	ubiquinol-cytochrome c reductase binding protein	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1323703	D	RGD:11554173	20190319	CTD		CTD Direct Evidence: marker/mechanism	
1311971	Uqcrb	ubiquinol-cytochrome c reductase binding protein	gene	DOID:0080112	mitochondrial complex III deficiency nuclear type 3		ISO	RGD:1323703	D	RGD:7240710	20140903	OMIM			
1311971	Uqcrb	ubiquinol-cytochrome c reductase binding protein	gene	DOID:0080112	mitochondrial complex III deficiency nuclear type 3		ISO	RGD:1323703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 3 | ClinVar Annotator: match by term: UQCRB-related condition	PMID:25741868|PMID:28492532
1311971	Uqcrb	ubiquinol-cytochrome c reductase binding protein	gene	DOID:1596	depressive disorder		IEP		D	RGD:13801196|PMID:22311638	20181220	RGD			
1311971	Uqcrb	ubiquinol-cytochrome c reductase binding protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1323703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1311971	Uqcrb	ubiquinol-cytochrome c reductase binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1323703	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311971	Uqcrb	ubiquinol-cytochrome c reductase binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1323703	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1311971	Uqcrb	ubiquinol-cytochrome c reductase binding protein	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1323703	D	RGD:1599707|PMID:12709789	20070213	RGD		mitochondrial complex III deficiency, OMIM:124000	
1311971	Uqcrb	ubiquinol-cytochrome c reductase binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311972	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311972	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311972	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:3275	thymoma		ISO	RGD:1323705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311972	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311972	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1323705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1311972	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:684	hepatocellular carcinoma		ISS	RGD:1323706	D	RGD:13592920	20180518	MouseDO		OMIM:114550	
1311972	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311972	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	IEP		D	RGD:10003160|PMID:20501665	20231219	RGD			
1311972	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323705	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1311972	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311972	Nfe2l1	NFE2 like bZIP transcription factor 1	gene	DOID:9352	type 2 diabetes mellitus		ISS	RGD:1323706	D	RGD:13592920	20240425	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
1311973	Tnnc2	troponin C2, fast skeletal type	gene	DOID:0081347	congenital myopathy 15		ISO	RGD:1323707	D	RGD:7240710	20230301	OMIM			
1311973	Tnnc2	troponin C2, fast skeletal type	gene	DOID:0081347	congenital myopathy 15		ISO	RGD:1323707	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 15	
1311973	Tnnc2	troponin C2, fast skeletal type	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311973	Tnnc2	troponin C2, fast skeletal type	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311974	Usp38	ubiquitin specific peptidase 38	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311974	Usp38	ubiquitin specific peptidase 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311974	Usp38	ubiquitin specific peptidase 38	gene	DOID:10534	stomach cancer		ISO	RGD:1323709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311974	Usp38	ubiquitin specific peptidase 38	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311974	Usp38	ubiquitin specific peptidase 38	gene	DOID:1115	sarcoma		ISO	RGD:1323709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311974	Usp38	ubiquitin specific peptidase 38	gene	DOID:3275	thymoma		ISO	RGD:1323709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311974	Usp38	ubiquitin specific peptidase 38	gene	DOID:4362	cervical cancer		ISO	RGD:1323709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311974	Usp38	ubiquitin specific peptidase 38	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311974	Usp38	ubiquitin specific peptidase 38	gene	DOID:5041	esophageal cancer		ISO	RGD:1323709	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311974	Usp38	ubiquitin specific peptidase 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311974	Usp38	ubiquitin specific peptidase 38	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311974	Usp38	ubiquitin specific peptidase 38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311974	Usp38	ubiquitin specific peptidase 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311974	Usp38	ubiquitin specific peptidase 38	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311977	Slc27a6	solute carrier family 27 member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311977	Slc27a6	solute carrier family 27 member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311977	Slc27a6	solute carrier family 27 member 6	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1323714	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
1311977	Slc27a6	solute carrier family 27 member 6	gene	DOID:3275	thymoma		ISO	RGD:1323714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311977	Slc27a6	solute carrier family 27 member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1323714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311977	Slc27a6	solute carrier family 27 member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311977	Slc27a6	solute carrier family 27 member 6	gene	DOID:5844	myocardial infarction		IEP		D	RGD:1642800|PMID:17034771	20090903	RGD		protein:decreased expression:heart	
1311977	Slc27a6	solute carrier family 27 member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311977	Slc27a6	solute carrier family 27 member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311979	Lrrc8e	leucine rich repeat containing 8 VRAC subunit E	gene	DOID:2843	long QT syndrome		ISO	RGD:1604796	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1311979	Lrrc8e	leucine rich repeat containing 8 VRAC subunit E	gene	DOID:4362	cervical cancer		ISO	RGD:1604796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311979	Lrrc8e	leucine rich repeat containing 8 VRAC subunit E	gene	DOID:5041	esophageal cancer		ISO	RGD:1604796	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:0050445	X-linked hypophosphatemic rickets		ISO	RGD:1323719	D	RGD:11560488|PMID:24710520	20161108	RGD		mRNA:increased expression:long bone, osteoblast, osteocyte (mouse)	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:0050567	orofacial cleft		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Median cleft lip and palate	PMID:25741868|PMID:38163266
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:0080600	COVID-19		ISO	RGD:1323719	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:10609	rickets		ISS	RGD:1323720	D	RGD:13592920	20180518	MouseDO		OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:10907	microcephaly		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1323719	D	RGD:11560491|PMID:25928877	20161108	RGD		DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human)	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1323720	D	RGD:11560487|PMID:22732358	20161108	RGD			
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:3275	thymoma		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:630	genetic disease		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:9000666	Raine Syndrome		ISO	RGD:1323719	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:9000666	Raine Syndrome		ISO	RGD:1323719	D	RGD:11560486|PMID:17924334	20161108	RGD		DNA:deletion, snps, missense mutations:multiple (human)	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:9000666	Raine Syndrome		ISO	RGD:1323719	D	RGD:7240710	20130221	OMIM			
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:9000666	Raine Syndrome		ISO	RGD:1323719	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar Annotator: match by term: Osteomalacia, sclerosing, with cerebral calcification | ClinVar Annotator: match by term: RAINE SYNDROME	PMID:17576681|PMID:17924334|PMID:19250384|PMID:22582013|PMID:24033266|PMID:25026495|PMID:25741868|PMID:25928877|PMID:28492532|PMID:32093234|PMID:32299476|PMID:32337609|PMID:34259997|PMID:38163266|PMID:9536098
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:1323720	D	RGD:11558021|PMID:22615579	20161107	RGD			
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:9002997	Glossoptosis		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glossoptosis	PMID:25741868|PMID:38163266
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:9004003	Tooth Demineralization		ISO	RGD:1323719	D	RGD:11558022|PMID:23325605	20161107	RGD		associated with Rickets, Hypophosphatemic;DNA:snps, missense mutation, nonsense mutation:multiple (human)	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:9008539	Perinatal Death		ISO	RGD:1323719	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal death	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311980	Fam20c	FAM20C, golgi associated secretory pathway kinase	gene	DOID:930	orbital disease		ISO	RGD:1323719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868|PMID:38163266
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:0080600	COVID-19		ISO	RGD:1323721	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:10534	stomach cancer		ISO	RGD:1323721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:1115	sarcoma		ISO	RGD:1323721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:1324	lung cancer		ISO	RGD:1323721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:1909	melanoma		ISO	RGD:1323721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1323721	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:9005834	Ependymomas		ISO	RGD:1323721	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311981	Slc39a11	solute carrier family 39, member 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311982	Slc25a24	solute carrier family 25 member 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311982	Slc25a24	solute carrier family 25 member 24	gene	DOID:0051067	Fontaine progeroid syndrome		ISO	RGD:1607032	D	RGD:7240710	20190315	OMIM			
1311982	Slc25a24	solute carrier family 25 member 24	gene	DOID:0051067	Fontaine progeroid syndrome		ISO	RGD:1607032	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fontaine progeroid syndrome | ClinVar Annotator: match by term: SLC25A24-related condition	PMID:25741868|PMID:28492532|PMID:29100093|PMID:29100094|PMID:30329211|PMID:31231135
1311982	Slc25a24	solute carrier family 25 member 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311982	Slc25a24	solute carrier family 25 member 24	gene	DOID:1307	dementia		ISO	RGD:1607032	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:25741868
1311982	Slc25a24	solute carrier family 25 member 24	gene	DOID:1324	lung cancer		ISO	RGD:1607032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311982	Slc25a24	solute carrier family 25 member 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1311982	Slc25a24	solute carrier family 25 member 24	gene	DOID:630	genetic disease		ISO	RGD:1607032	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1311982	Slc25a24	solute carrier family 25 member 24	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1607032	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:29100093|PMID:29100094|PMID:30329211|PMID:31231135
1311982	Slc25a24	solute carrier family 25 member 24	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1607032	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311982	Slc25a24	solute carrier family 25 member 24	gene	DOID:9003507	Premature Birth		ISO	RGD:1607032	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532|PMID:29100093|PMID:29100094|PMID:30329211|PMID:31231135
1311982	Slc25a24	solute carrier family 25 member 24	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1607032	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868|PMID:28492532|PMID:29100093|PMID:29100094|PMID:30329211|PMID:31231135
1311982	Slc25a24	solute carrier family 25 member 24	gene	DOID:9007661	Dwarfism		ISO	RGD:1607032	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:29100093|PMID:29100094|PMID:30329211|PMID:31231135
1311982	Slc25a24	solute carrier family 25 member 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607032	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311983	Rgma	repulsive guidance molecule BMP co-receptor a	gene	DOID:11446	sciatic neuropathy		IEP		D	RGD:9850145|PMID:16863689	20150330	RGD			
1311983	Rgma	repulsive guidance molecule BMP co-receptor a	gene	DOID:2377	multiple sclerosis		ISO	RGD:1323724	D	RGD:6892695|PMID:20072140	20150331	RGD		DNA:SNPs:intron: (rs997941, rs34925346) (human)	
1311983	Rgma	repulsive guidance molecule BMP co-receptor a	gene	DOID:3328	temporal lobe epilepsy		IEP		D	RGD:9850144|PMID:25420768	20150330	RGD		protein:decreased expression:CA3 field of hippocampus	
1311983	Rgma	repulsive guidance molecule BMP co-receptor a	gene	DOID:3525	middle cerebral artery infarction	treatment	IEP		D	RGD:9850121|PMID:21840379	20150327	RGD			
1311983	Rgma	repulsive guidance molecule BMP co-receptor a	gene	DOID:3525	middle cerebral artery infarction	treatment	IMP		D	RGD:9850122|PMID:23275173	20150327	RGD			
1311983	Rgma	repulsive guidance molecule BMP co-receptor a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311983	Rgma	repulsive guidance molecule BMP co-receptor a	gene	DOID:9000039	Spinal Cord Injuries	treatment	IMP		D	RGD:9850138|PMID:16585268	20150330	RGD			
1311983	Rgma	repulsive guidance molecule BMP co-receptor a	gene	DOID:9002560	Penetrating Eye Injuries		IEP		D	RGD:9850142|PMID:21887516	20150330	RGD		protein:increased expression:retina	
1311983	Rgma	repulsive guidance molecule BMP co-receptor a	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311983	Rgma	repulsive guidance molecule BMP co-receptor a	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:10534	stomach cancer		ISO	RGD:1323726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:10907	microcephaly		ISO	RGD:1323726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:38780621
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:1115	sarcoma		ISO	RGD:1323726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1323726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron deficiency anemia	PMID:38780621
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:4362	cervical cancer		ISO	RGD:1323726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:5082	liver cirrhosis		ISO	RGD:1323726	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:543	dystonia		ISO	RGD:1323726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:38780621
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:552	pneumonia		ISO	RGD:1323726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:38780621
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:848	arthritis		ISO	RGD:1323726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:38780621
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323726	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:9003870	Herpes Simplex Encephalitis		ISO	RGD:1323726	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1323726	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:38780621
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:9009070	Herpes Simplex Encephalitis 1		ISO	RGD:1323726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 | ClinVar Annotator: match by term: UNC93B1-related disorder	PMID:16199547|PMID:16973841|PMID:17576681|PMID:25741868|PMID:28492532|PMID:38780621|PMID:9536098
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:9009070	Herpes Simplex Encephalitis 1	susceptibility	ISO	RGD:1323726	D	RGD:7240710	20190502	OMIM			
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:38780621
1311984	Unc93b1	unc-93B1 regulator of TLR signaling	gene	DOID:9074	systemic lupus erythematosus		ISS	RGD:1615140	D	RGD:13592920	20260101	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
1311985	Arpc3	actin related protein 2/3 complex, subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311985	Arpc3	actin related protein 2/3 complex, subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1323728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1311985	Arpc3	actin related protein 2/3 complex, subunit 3	gene	DOID:14330	Parkinson's disease	treatment	IDA		D	RGD:11049454|PMID:20713051	20160406	RGD			
1311985	Arpc3	actin related protein 2/3 complex, subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323728	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311985	Arpc3	actin related protein 2/3 complex, subunit 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1311985	Arpc3	actin related protein 2/3 complex, subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311985	Arpc3	actin related protein 2/3 complex, subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311985	Arpc3	actin related protein 2/3 complex, subunit 3	gene	DOID:9351	diabetes mellitus		ISO	RGD:1323728	D	RGD:11049459|PMID:26504501	20160406	RGD		associated with Obesity, Morbid;mRNA:decreased expression:omentum, adipose tissue (human)	
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:0080600	COVID-19		ISO	RGD:1323730	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:1323730	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20485159
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:1323730	D	RGD:5135020|PMID:19796209	20110708	RGD		associated with asthma;DNA:SNP:promoter:-466T>C	
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:13564	aspergillosis	treatment	IEP		D	RGD:629006537|PMID:24329550	20251103	RGD		associated with chronic asthma	
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:1485	cystic fibrosis		ISO	RGD:1323730	D	RGD:5135022|PMID:18334635	20110708	RGD			
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:2841	asthma		ISO	RGD:1323730	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:27103662
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:2841	asthma		ISO	RGD:1323730	D	RGD:5135019|PMID:19392992	20110708	RGD			
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:2841	asthma		ISO	RGD:1323731	D	RGD:5135018|PMID:18757520	20110708	RGD			
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:2841	asthma	severity	ISO	RGD:1323730	D	RGD:629107239|PMID:27079298	20251204	RGD			
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:2841	asthma	treatment	ISO	RGD:1323730	D	RGD:629006532|PMID:27503237	20251103	RGD			
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:2841	asthma	treatment	ISO	RGD:1323731	D	RGD:629006533|PMID:28669561	20251103	RGD			
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1323730	D	RGD:632518396|PMID:37460564	20260211	RGD		mRNA:decreased expression:Peripheral blood mononuclear cells	
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1323730	D	RGD:629006536|PMID:31572551	20251103	RGD		mRNA:increased expression:peripheral blood mononuclear cell	
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:4483	rhinitis		ISO	RGD:1323730	D	RGD:5135021|PMID:19230460	20110708	RGD			
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:4483	rhinitis		ISO	RGD:1323731	D	RGD:5135017|PMID:19608418	20110708	RGD			
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:9001472	Nasal Polyps	disease_progression	ISO	RGD:1323730	D	RGD:629006546|PMID:36466917	20251104	RGD		associated with Eosinophilia;	
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1323730	D	RGD:629107235|PMID:29970474	20251204	RGD		mRNA, protein:increased expression:T cell	
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1323731	D	RGD:629107235|PMID:29970474	20251204	RGD		mRNA:increased expression:CD4+ T cell	
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:9004610	Acute Lung Injury	ameliorates	ISO	RGD:1323731	D	RGD:629006535|PMID:30951719	20251103	RGD			
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:9005372	Inflammation		ISO	RGD:1323731	D	RGD:5135015|PMID:21646789	20110708	RGD			
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:9005941	Rhinosinusitis		ISO	RGD:1323730	D	RGD:629006545|PMID:37779524	20251104	RGD		mRNA:increased expression:nasal cavity mucosa	
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:9006928	Viral Bronchiolitis	ameliorates	ISO	RGD:1323731	D	RGD:629107238|PMID:29743346	20251204	RGD			
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:9415	allergic asthma	ameliorates	IMP		D	RGD:5135534|PMID:18097056	20251204	RGD			
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:9415	allergic asthma	susceptibility	ISO	RGD:1323730	D	RGD:629006594|PMID:22947041	20251105	RGD		DNA:SNP:5'utr:g.6391G>A (rs533116)	
1311986	Ptgdr2	prostaglandin D2 receptor 2	gene	DOID:9498	pulmonary eosinophilia		IDA		D	RGD:629006549|PMID:15590767	20251104	RGD			
1311987	Pld6	phospholipase D family, member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1311987	Pld6	phospholipase D family, member 6	gene	DOID:1115	sarcoma		ISO	RGD:1602058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1311987	Pld6	phospholipase D family, member 6	gene	DOID:12336	male infertility		ISO	RGD:1602058	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
1311987	Pld6	phospholipase D family, member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311988	Sack1b	scaffolding CK1 anchoring protein B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311988	Sack1b	scaffolding CK1 anchoring protein B	gene	DOID:5041	esophageal cancer		ISO	RGD:1323733	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311988	Sack1b	scaffolding CK1 anchoring protein B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311988	Sack1b	scaffolding CK1 anchoring protein B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311989	Ckap4	cytoskeleton-associated protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311989	Ckap4	cytoskeleton-associated protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311989	Ckap4	cytoskeleton-associated protein 4	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1323735	D	RGD:152995286|PMID:30901224	20220614	RGD		associated with tumor vascularization; mRNA,protein:increased expression:liver tumor (human)	
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:0110804	hereditary spastic paraplegia 52		ISO	RGD:1348189	D	RGD:7240710	20140911	OMIM			
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:0110804	hereditary spastic paraplegia 52		ISO	RGD:1348189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 52 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE	PMID:16199547|PMID:17576681|PMID:21620353|PMID:25552650|PMID:25741868|PMID:26297806|PMID:26633542|PMID:27444738|PMID:28492532|PMID:30283821|PMID:31660686|PMID:31690835|PMID:31915823|PMID:32056211|PMID:32979048|PMID:34374989|PMID:9536098
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:1059	intellectual disability		ISO	RGD:1348189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16199547|PMID:21620353|PMID:25552650|PMID:25741868|PMID:26633542|PMID:27444738|PMID:28492532|PMID:30283821|PMID:31915823|PMID:32979048
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:10907	microcephaly		ISO	RGD:1348189	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16199547|PMID:21620353|PMID:25552650|PMID:25741868|PMID:26633542|PMID:27444738|PMID:28492532|PMID:30283821|PMID:31915823|PMID:32979048
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1348189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:28492532|PMID:32979048
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:1826	epilepsy		ISO	RGD:1348189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16199547|PMID:21620353|PMID:25552650|PMID:25741868|PMID:26633542|PMID:27444738|PMID:28492532|PMID:30283821|PMID:31915823|PMID:32979048
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1348189	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348189	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:607	paraplegia		ISO	RGD:1348189	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:17576681|PMID:21620353|PMID:25552650|PMID:25741868|PMID:26297806|PMID:26633542|PMID:27444738|PMID:28492532|PMID:30283821|PMID:31660686|PMID:31915823|PMID:32056211|PMID:32979048|PMID:34374989|PMID:9536098
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:630	genetic disease		ISO	RGD:1348189	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:32979048
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1348189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532|PMID:32979048
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348189	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:16199547|PMID:21620353|PMID:25552650|PMID:25741868|PMID:27444738|PMID:28492532
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1348189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:16199547|PMID:21620353|PMID:25552650|PMID:25741868|PMID:26633542|PMID:27444738|PMID:28492532|PMID:30283821|PMID:31915823|PMID:32979048
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:28492532|PMID:32979048
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:21620353|PMID:25552650|PMID:25741868|PMID:26633542|PMID:27444738|PMID:28492532|PMID:30283821|PMID:31915823|PMID:32979048
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1311990	Ap4s1	adaptor related protein complex 4 subunit sigma 1	gene	DOID:9840	esotropia		ISO	RGD:1348189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:28492532|PMID:32979048
1311991	Erf	Ets2 repressor factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1311991	Erf	Ets2 repressor factor	gene	DOID:0060320	inguinal hernia		ISO	RGD:1323738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
1311991	Erf	Ets2 repressor factor	gene	DOID:0061010	craniosynostosis 1		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: TWIST1-related craniosynostosis	PMID:17576681|PMID:23354439|PMID:2370745|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:30758909|PMID:31754721|PMID:31785789|PMID:35852485|PMID:38824261|PMID:39668184|PMID:9536098
1311991	Erf	Ets2 repressor factor	gene	DOID:0061012	craniosynostosis 4		ISO	RGD:1323738	D	RGD:7240710	20190327	OMIM			
1311991	Erf	Ets2 repressor factor	gene	DOID:0061012	craniosynostosis 4		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 4 | ClinVar Annotator: match by term: Craniosynostosis 4	PMID:23354439|PMID:25741868|PMID:28492532
1311991	Erf	Ets2 repressor factor	gene	DOID:0080833	laryngomalacia		ISO	RGD:1323738	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:27738187|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
1311991	Erf	Ets2 repressor factor	gene	DOID:1059	intellectual disability		ISO	RGD:1323738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35591945|PMID:35852485
1311991	Erf	Ets2 repressor factor	gene	DOID:1059	intellectual disability		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27738187|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
1311991	Erf	Ets2 repressor factor	gene	DOID:10907	microcephaly		ISO	RGD:1323738	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27738187|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
1311991	Erf	Ets2 repressor factor	gene	DOID:11383	cryptorchidism		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1311991	Erf	Ets2 repressor factor	gene	DOID:12849	autistic disorder		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1311991	Erf	Ets2 repressor factor	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
1311991	Erf	Ets2 repressor factor	gene	DOID:1657	ventricular septal defect		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1311991	Erf	Ets2 repressor factor	gene	DOID:1969	cerebral palsy		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1311991	Erf	Ets2 repressor factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1323738	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23354439
1311991	Erf	Ets2 repressor factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1323738	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis	PMID:23354439|PMID:25741868|PMID:26097063|PMID:28492532|PMID:28808027|PMID:30758909|PMID:31785789
1311991	Erf	Ets2 repressor factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1323738	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Lambdoid synostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis	PMID:17576681|PMID:23354439|PMID:25741868|PMID:25741905|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:29215649|PMID:29758562|PMID:30758909|PMID:31754721|PMID:31785789|PMID:32370745|PMID:9536098
1311991	Erf	Ets2 repressor factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1323738	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Lambdoid synostosis | ClinVar Annotator: match by term: Syndromic craniosynostosis	PMID:17576681|PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:29215649|PMID:29758562|PMID:30758909|PMID:31754721|PMID:31785789|PMID:32370745|PMID:9536098
1311991	Erf	Ets2 repressor factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Lambdoidal craniosynostosis	PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:30758909|PMID:31837199|PMID:32901917|PMID:35852485
1311991	Erf	Ets2 repressor factor	gene	DOID:3070	high grade glioma		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1311991	Erf	Ets2 repressor factor	gene	DOID:3490	Noonan syndrome		ISO	RGD:1323738	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Noonan syndrome	
1311991	Erf	Ets2 repressor factor	gene	DOID:4362	cervical cancer		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311991	Erf	Ets2 repressor factor	gene	DOID:540	strabismus		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	
1311991	Erf	Ets2 repressor factor	gene	DOID:630	genetic disease		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23354439|PMID:25741868|PMID:27738187|PMID:28492532|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32370745|PMID:32592542|PMID:35852485|PMID:38824261
1311991	Erf	Ets2 repressor factor	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1323738	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:27738187|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
1311991	Erf	Ets2 repressor factor	gene	DOID:9001031	Retrognathia		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
1311991	Erf	Ets2 repressor factor	gene	DOID:9001260	CHITAYAT SYNDROME		ISO	RGD:1323738	D	RGD:7240710	20190315	OMIM			
1311991	Erf	Ets2 repressor factor	gene	DOID:9001260	CHITAYAT SYNDROME		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chitayat syndrome	PMID:23354439|PMID:25741868|PMID:27738187|PMID:28492532|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
1311991	Erf	Ets2 repressor factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1311991	Erf	Ets2 repressor factor	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anorectal anomaly	
1311991	Erf	Ets2 repressor factor	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1323738	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23354439
1311991	Erf	Ets2 repressor factor	gene	DOID:9002082	Prolonged Pregnancy		ISO	RGD:1323738	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Postterm pregnancy	PMID:25741868|PMID:27738187|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
1311991	Erf	Ets2 repressor factor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1323738	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1311991	Erf	Ets2 repressor factor	gene	DOID:9003091	Noonan Like Syndrome		ISO	RGD:1323738	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS | ClinVar Annotator: match by term: Noonan Syndrome-like developmental disorder	PMID:23354439|PMID:25741868|PMID:27738187|PMID:28492532|PMID:28808027|PMID:29758562|PMID:30758909|PMID:32370745|PMID:35852485
1311991	Erf	Ets2 repressor factor	gene	DOID:9003091	Noonan Like Syndrome		ISO	RGD:1323738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Noonan Syndrome-like developmental disorder | ClinVar Annotator: match by term: Noonan-like syndrome	PMID:23354439|PMID:25741868|PMID:28492532|PMID:30758909|PMID:35591945|PMID:38824261
1311991	Erf	Ets2 repressor factor	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intracranial hemorrhage	
1311991	Erf	Ets2 repressor factor	gene	DOID:9003133	Hypertelorism		ISO	RGD:1323738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:27738187|PMID:28492532|PMID:28808027|PMID:30758909|PMID:35852485
1311991	Erf	Ets2 repressor factor	gene	DOID:9003507	Premature Birth		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1311991	Erf	Ets2 repressor factor	gene	DOID:9004507	Hirsutism		ISO	RGD:1323738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868
1311991	Erf	Ets2 repressor factor	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1323738	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23354439
1311991	Erf	Ets2 repressor factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:23354439|PMID:25741868|PMID:26097063|PMID:28492532|PMID:28808027|PMID:30758909|PMID:35591945
1311991	Erf	Ets2 repressor factor	gene	DOID:9006325	Ventral Hernia		ISO	RGD:1323738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventral hernia	PMID:25741868
1311991	Erf	Ets2 repressor factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311991	Erf	Ets2 repressor factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1323738	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:27738187|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
1311991	Erf	Ets2 repressor factor	gene	DOID:9007817	Macroglossia		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:23354439|PMID:25741868|PMID:26097063|PMID:28492532|PMID:28808027
1311991	Erf	Ets2 repressor factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27738187|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32592542|PMID:35852485
1311991	Erf	Ets2 repressor factor	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1323738	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23354439
1311991	Erf	Ets2 repressor factor	gene	DOID:930	orbital disease		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	
1311991	Erf	Ets2 repressor factor	gene	DOID:936	brain disease		ISO	RGD:1323738	D	RGD:8554872	20230502	ClinVar		ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868
1311991	Erf	Ets2 repressor factor	gene	DOID:9538	multiple myeloma		ISO	RGD:1323738	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1311991	Erf	Ets2 repressor factor	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
1311991	Erf	Ets2 repressor factor	gene	DOID:9667	placental abruption		ISO	RGD:1323738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Placental abruption	
1311992	Cgn	cingulin	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1323740	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Nonsyndromic hearing loss	PMID:25741868
1311992	Cgn	cingulin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1311992	Cgn	cingulin	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1323740	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1311992	Cgn	cingulin	gene	DOID:10534	stomach cancer		ISO	RGD:1323740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1311992	Cgn	cingulin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1311992	Cgn	cingulin	gene	DOID:4362	cervical cancer		ISO	RGD:1323740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1311992	Cgn	cingulin	gene	DOID:5041	esophageal cancer		ISO	RGD:1323740	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1311992	Cgn	cingulin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1311992	Cgn	cingulin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1311992	Cgn	cingulin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1311996	Ccl21	C-C motif chemokine ligand 21	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1323745	D	RGD:5130910|PMID:17717200	20110413	RGD		mRNA:increased expression:lung	
1311996	Ccl21	C-C motif chemokine ligand 21	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1323745	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18794853|PMID:20453842|PMID:23143596
1311996	Ccl21	C-C motif chemokine ligand 21	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:1323745	D	RGD:38508895|PMID:23593305	20200819	RGD		protein:increased expression:plasma (human)	
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:0050169	cutaneous lupus erythematosus		ISS	RGD:1320018	D	RGD:13592920	20180518	MouseDO			
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:1323748	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16845398
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISS	RGD:1320018	D	RGD:13592920	20230718	MouseDO		OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846	
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:0111567	retinal vasculopathy with cerebral leukodystrophy		ISO	RGD:1323748	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:17660820
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:0111567	retinal vasculopathy with cerebral leukodystrophy	susceptibility	ISO	RGD:1323748	D	RGD:7240710	20260812	OMIM			
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:9001350	Aicardi-Goutieres Syndrome 1		ISO	RGD:1323748	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: AICARDI-GOUTIERES SYNDROME 1	PMID:25741868
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:9001350	Aicardi-Goutieres Syndrome 1	susceptibility	ISO	RGD:1323748	D	RGD:7240710	20260812	OMIM			
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:9001488	Human Influenza		ISO	RGD:1323748	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:9005372	Inflammation		ISO	RGD:1323748	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16845398
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:9005881	Chilblain Lupus 1		ISO	RGD:1323748	D	RGD:11554173	20161213	CTD		CTD Direct Evidence: marker/mechanism	PMID:27566796
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:9005881	Chilblain Lupus 1	susceptibility	ISO	RGD:1323748	D	RGD:7240710	20260812	OMIM			
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323748	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17660818
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323748	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: CR2-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:24033266|PMID:24088041|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:26633545|PMID:27391121|PMID:28089741|PMID:28492532|PMID:28750028|PMID:28919362|PMID:29239743|PMID:29387804|PMID:29859840|PMID:30219631|PMID:31130681|PMID:31980526|PMID:32483926|PMID:32860008|PMID:33504652|PMID:33528079|PMID:34426522|PMID:35456422|PMID:36586737
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1323748	D	RGD:7240710	20260812	OMIM			
1311998	Trex1	three prime repair exonuclease 1	gene	DOID:936	brain disease		ISO	RGD:1323748	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16845398
1311999	Ms4a1	membrane spanning 4-domains A1	gene	DOID:0081148	common variable immunodeficiency 5		ISO	RGD:1323750	D	RGD:7240710	20190710	OMIM			
1311999	Ms4a1	membrane spanning 4-domains A1	gene	DOID:0081148	common variable immunodeficiency 5		ISO	RGD:1323750	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 | ClinVar Annotator: match by term: MS4A1-related condition	PMID:25741868|PMID:28492532
1311999	Ms4a1	membrane spanning 4-domains A1	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1323750	D	RGD:11554173	20190716	CTD		CTD Direct Evidence: marker/mechanism	
1311999	Ms4a1	membrane spanning 4-domains A1	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1323750	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
1311999	Ms4a1	membrane spanning 4-domains A1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1323750	D	RGD:11554173	20161213	CTD		CTD Direct Evidence: marker/mechanism	PMID:22514692
1311999	Ms4a1	membrane spanning 4-domains A1	gene	DOID:2921	glomerulonephritis		IEP		D	RGD:2316995|PMID:7538648	20100309	RGD		protein:increased expression:kidney, glomerulus (rat)	
1311999	Ms4a1	membrane spanning 4-domains A1	gene	DOID:3275	thymoma		ISO	RGD:1323750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1311999	Ms4a1	membrane spanning 4-domains A1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1323750	D	RGD:11554173	20161213	CTD		CTD Direct Evidence: marker/mechanism	PMID:22514692
1311999	Ms4a1	membrane spanning 4-domains A1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1323750	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:22514692
1311999	Ms4a1	membrane spanning 4-domains A1	gene	DOID:5119	ovarian cyst		ISO	RGD:1323750	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
1311999	Ms4a1	membrane spanning 4-domains A1	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1323750	D	RGD:2316994|PMID:19911856	20100309	RGD			
1311999	Ms4a1	membrane spanning 4-domains A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:10534	stomach cancer		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:1324	lung cancer		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1323751	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection	PMID:11241487|PMID:23687502|PMID:24768550|PMID:25741868
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1323751	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection	PMID:25741868
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:1909	melanoma		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:3275	thymoma		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:4362	cervical cancer		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323751	D	RGD:6902945|PMID:21898484	20120925	RGD			
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:5041	esophageal cancer		ISO	RGD:1323751	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:630	genetic disease		ISO	RGD:1323751	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:8545	malignant hyperthermia		ISO	RGD:1323751	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:9000195	Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism		ISO	RGD:1323751	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:9000195	Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism		ISO	RGD:1323751	D	RGD:7240710	20141015	OMIM			
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:9000195	Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism		ISO	RGD:1323751	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASPH-related condition | ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | ClinVar Annotator: match by term: TRABOULSI SYNDROME	PMID:25741868|PMID:28492532|PMID:31274573|PMID:33217155
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:9002936	Bile Duct Neoplasms		ISO	RGD:1323751	D	RGD:2325824|PMID:16673309	20100610	RGD		mRNA:increased expression:bile duct	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:9004201	Ectopia Lentis		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ectopia lentis	PMID:25741868
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312000	Asph	aspartate-beta-hydroxylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312001	Rdh11	retinol dehydrogenase 11	gene	DOID:9000849	Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome		ISO	RGD:1323753	D	RGD:7240710	20160713	OMIM			
1312002	Cobl	cordon-bleu WH2 repeat protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312002	Cobl	cordon-bleu WH2 repeat protein	gene	DOID:10534	stomach cancer		ISO	RGD:1323755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312002	Cobl	cordon-bleu WH2 repeat protein	gene	DOID:1115	sarcoma		ISO	RGD:1323755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1312002	Cobl	cordon-bleu WH2 repeat protein	gene	DOID:1324	lung cancer		ISO	RGD:1323755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1312002	Cobl	cordon-bleu WH2 repeat protein	gene	DOID:1909	melanoma		ISO	RGD:1323755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1312002	Cobl	cordon-bleu WH2 repeat protein	gene	DOID:3070	high grade glioma		ISO	RGD:1323755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1312002	Cobl	cordon-bleu WH2 repeat protein	gene	DOID:3275	thymoma		ISO	RGD:1323755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1312002	Cobl	cordon-bleu WH2 repeat protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1312002	Cobl	cordon-bleu WH2 repeat protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1323755	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1312002	Cobl	cordon-bleu WH2 repeat protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312002	Cobl	cordon-bleu WH2 repeat protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1312002	Cobl	cordon-bleu WH2 repeat protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312002	Cobl	cordon-bleu WH2 repeat protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312003	Alg14	ALG14, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0080600	COVID-19		ISO	RGD:1604512	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1312003	Alg14	ALG14, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0081337	congenital myopathy		ISO	RGD:1604512	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:16199547|PMID:25741868|PMID:28492532
1312003	Alg14	ALG14, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0110658	congenital myasthenic syndrome 15		ISO	RGD:1604512	D	RGD:7240710	20170315	OMIM			
1312003	Alg14	ALG14, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:0110658	congenital myasthenic syndrome 15		ISO	RGD:1604512	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 15 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 15	PMID:16199547|PMID:17576681|PMID:23404334|PMID:25741868|PMID:28492532|PMID:34908252|PMID:9536098
1312003	Alg14	ALG14, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:10907	microcephaly		ISO	RGD:1604512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1312003	Alg14	ALG14, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:1826	epilepsy		ISO	RGD:1604512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1312003	Alg14	ALG14, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1604512	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1312003	Alg14	ALG14, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:630	genetic disease		ISO	RGD:1604512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1312003	Alg14	ALG14, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:8488	polyhydramnios		ISO	RGD:1604512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1312003	Alg14	ALG14, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9003980	Myopathy, Epilepsy, and Progressive Cerebral Atrophy		ISO	RGD:1604512	D	RGD:7240710	20201021	OMIM			
1312003	Alg14	ALG14, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9003980	Myopathy, Epilepsy, and Progressive Cerebral Atrophy		ISO	RGD:1604512	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY | ClinVar Annotator: match by term: Myopathy, epilepsy, and progressive cerebral atrophy	PMID:23404334|PMID:25741868|PMID:28492532|PMID:28733338|PMID:33751823|PMID:34908252
1312003	Alg14	ALG14, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1312003	Alg14	ALG14, UDP-N-acetylglucosaminyltransferase subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1312004	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1312004	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:10534	stomach cancer		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312004	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:1115	sarcoma		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1312004	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:11396	pulmonary edema		ISO	RGD:1323758	D	RGD:11554173	20250114	CTD		CTD Direct Evidence: therapeutic	PMID:38901789
1312004	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323758	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1312004	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312004	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1312004	Hspa12b	heat shock protein family A (Hsp70) member 12B	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1323758	D	RGD:11554173	20250114	CTD		CTD Direct Evidence: therapeutic	PMID:38901789
1312005	Minar2	membrane integral NOTCH2 associated receptor 2	gene	DOID:0070674	autosomal recessive nonsyndromic deafness 120		ISO	RGD:2291767	D	RGD:7240710	20230215	OMIM			
1312005	Minar2	membrane integral NOTCH2 associated receptor 2	gene	DOID:0070674	autosomal recessive nonsyndromic deafness 120		ISO	RGD:2291767	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 120	
1312005	Minar2	membrane integral NOTCH2 associated receptor 2	gene	DOID:14330	Parkinson's disease		ISS	RGD:1323760	D	RGD:13592920	20210128	MouseDO			
1312006	Ift80	intraflagellar transport 80	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1606252	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome	PMID:16199547|PMID:16385454|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:9536098
1312006	Ift80	intraflagellar transport 80	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1606252	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:11727201|PMID:12673792|PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20301601|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098
1312006	Ift80	intraflagellar transport 80	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1606252	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome	PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098
1312006	Ift80	intraflagellar transport 80	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1606252	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:11727201|PMID:12673792|PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20301601|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098
1312006	Ift80	intraflagellar transport 80	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1606252	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:16199547|PMID:16783378|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20301718|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098
1312006	Ift80	intraflagellar transport 80	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1606252	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:16199547|PMID:21227999|PMID:23339108|PMID:28492532|PMID:29068549
1312006	Ift80	intraflagellar transport 80	gene	DOID:0060118	thoracic disease		ISO	RGD:1606252	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468754
1312006	Ift80	intraflagellar transport 80	gene	DOID:0080006	bone development disease		ISO	RGD:1606252	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468754
1312006	Ift80	intraflagellar transport 80	gene	DOID:0110086	asphyxiating thoracic dystrophy 2		ISO	RGD:1606252	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1312006	Ift80	intraflagellar transport 80	gene	DOID:0110086	asphyxiating thoracic dystrophy 2		ISO	RGD:1606252	D	RGD:7240710	20130221	OMIM			
1312006	Ift80	intraflagellar transport 80	gene	DOID:0110086	asphyxiating thoracic dystrophy 2		ISS	RGD:1550300	D	RGD:13592920	20230718	MouseDO		OMIM:611263	
1312006	Ift80	intraflagellar transport 80	gene	DOID:0110087	asphyxiating thoracic dystrophy 3		ISS	RGD:1550300	D	RGD:13592920	20180518	MouseDO		OMIM:613091	
1312006	Ift80	intraflagellar transport 80	gene	DOID:11162	respiratory failure		ISO	RGD:1606252	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468754
1312006	Ift80	intraflagellar transport 80	gene	DOID:1148	polydactyly		ISO	RGD:1606252	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468754
1312006	Ift80	intraflagellar transport 80	gene	DOID:2975	cystic kidney disease		ISO	RGD:1606252	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468754
1312006	Ift80	intraflagellar transport 80	gene	DOID:8466	retinal degeneration		ISO	RGD:1606252	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468754
1312006	Ift80	intraflagellar transport 80	gene	DOID:9001041	Asphyxia		ISO	RGD:1606252	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468754
1312007	Etv1	ETS variant transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312007	Etv1	ETS variant transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323762	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312007	Etv1	ETS variant transcription factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1323762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1312007	Etv1	ETS variant transcription factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1323762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1312007	Etv1	ETS variant transcription factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1312007	Etv1	ETS variant transcription factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323762	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1312007	Etv1	ETS variant transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312007	Etv1	ETS variant transcription factor 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1323762	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:17173048|PMID:17671502|PMID:27783944
1312007	Etv1	ETS variant transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312007	Etv1	ETS variant transcription factor 1	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:1323762	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27783944
1312007	Etv1	ETS variant transcription factor 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1323762	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:30224643
1312007	Etv1	ETS variant transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312009	Pak5	p21 (RAC1) activated kinase 5	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1323766	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:28492532|PMID:32733715
1312009	Pak5	p21 (RAC1) activated kinase 5	gene	DOID:1115	sarcoma		ISO	RGD:1323766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1312009	Pak5	p21 (RAC1) activated kinase 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1312009	Pak5	p21 (RAC1) activated kinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312009	Pak5	p21 (RAC1) activated kinase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312010	Kctd9	potassium channel tetramerization domain containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312010	Kctd9	potassium channel tetramerization domain containing 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1312010	Kctd9	potassium channel tetramerization domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312010	Kctd9	potassium channel tetramerization domain containing 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1312010	Kctd9	potassium channel tetramerization domain containing 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1312010	Kctd9	potassium channel tetramerization domain containing 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1323770	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17119116
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1323770	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1323770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:1612	breast cancer	resistance	ISO	RGD:1323770	D	RGD:2300321|PMID:17896178	20080912	RGD			
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1323770	D	RGD:2300329|PMID:17031801	20080912	RGD			
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1323770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1323770	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323770	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:863	nervous system disease		ISO	RGD:1323770	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1323770	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1323770	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323770	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17595805
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323770	D	RGD:2300328|PMID:17311260	20080912	RGD			
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:9008939	Breast Neoplasms	no_association	ISO	RGD:1323770	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:no association between SNP rs1979277, rs1979276 or rs3783 and susceptibility to breast cancer	PMID:17311260|REF_RGD_ID:2300328
1312011	Shmt1	serine hydroxymethyltransferase 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1323770	D	RGD:8554872	20141209	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:25227144
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:0051007	congenital nonspherocytic hemolytic anemia 8		ISO	RGD:1323774	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:0051007	congenital nonspherocytic hemolytic anemia 8		ISO	RGD:1323774	D	RGD:7240710	20131120	OMIM			
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:0051007	congenital nonspherocytic hemolytic anemia 8		ISO	RGD:1323774	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 8 | ClinVar Annotator: match by term: NT5C3A-related condition | ClinVar Annotator: match by term: UMPH1 DEFICIENCY	PMID:11369620|PMID:12714505|PMID:12930399|PMID:25741868|PMID:28492532
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:10534	stomach cancer		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:1115	sarcoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:2861	congenital nonspherocytic hemolytic anemia		ISO	RGD:1323774	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16672222
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:4362	cervical cancer		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:5041	esophageal cancer		ISO	RGD:1323774	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:6039	uveal melanoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:720	normocytic anemia		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Normocytic anemia	PMID:25741868
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:9001341	Chloracne		ISO	RGD:1323774	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312013	Nt5c3a	5'-nucleotidase, cytosolic IIIA	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1312015	Xpo4	exportin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312015	Xpo4	exportin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312015	Xpo4	exportin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1312015	Xpo4	exportin 4	gene	DOID:1115	sarcoma		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1312015	Xpo4	exportin 4	gene	DOID:1909	melanoma		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1312015	Xpo4	exportin 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1312015	Xpo4	exportin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1323777	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1312015	Xpo4	exportin 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1312015	Xpo4	exportin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312015	Xpo4	exportin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1312016	Slc43a3	solute carrier family 43, member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312016	Slc43a3	solute carrier family 43, member 3	gene	DOID:0080600	COVID-19		ISO	RGD:1323779	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1312016	Slc43a3	solute carrier family 43, member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312016	Slc43a3	solute carrier family 43, member 3	gene	DOID:1324	lung cancer		ISO	RGD:1323779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1312016	Slc43a3	solute carrier family 43, member 3	gene	DOID:1909	melanoma		ISO	RGD:1323779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1312016	Slc43a3	solute carrier family 43, member 3	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1323779	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
1312016	Slc43a3	solute carrier family 43, member 3	gene	DOID:3275	thymoma		ISO	RGD:1323779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1312016	Slc43a3	solute carrier family 43, member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1323779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1312016	Slc43a3	solute carrier family 43, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312016	Slc43a3	solute carrier family 43, member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1312016	Slc43a3	solute carrier family 43, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312016	Slc43a3	solute carrier family 43, member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1312018	Zfp503	zinc finger protein 503	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312018	Zfp503	zinc finger protein 503	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312020	Kctd8	potassium channel tetramerization domain containing 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1312020	Kctd8	potassium channel tetramerization domain containing 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1312021	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1312021	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312021	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:10534	stomach cancer		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312021	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:1324	lung cancer		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1312021	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:2661	myoepithelioma		ISO	RGD:1323786	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1312021	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1323786	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1312021	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1312021	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312021	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1312021	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1312021	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:9003566	Mesothelioma		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1312021	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1312021	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312021	Cnot12	CCR4-NOT transcription complex subunit 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312022	Sox15	SRY-box transcription factor 15	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1323788	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
1312022	Sox15	SRY-box transcription factor 15	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1323788	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:0060408	chromosome 19q13.11 deletion syndrome		ISO	RGD:1602133	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal	PMID:25741868
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:1115	sarcoma		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:1826	epilepsy		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:1909	melanoma		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:3070	high grade glioma		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:540	strabismus		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:630	genetic disease		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:9004913	ACCES Syndrome		ISO	RGD:1602133	D	RGD:7240710	20220831	OMIM			
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:9004913	ACCES Syndrome		ISO	RGD:1602133	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACCES SYNDROME | ClinVar Annotator: match by term: ACCES syndrome | ClinVar Annotator: match by term: APLASIA CUTIS CONGENITA WITH ECTRODACTYLY SKELETAL SYNDROME	PMID:25741868|PMID:28492532|PMID:31332306|PMID:31587267|PMID:32758660|PMID:34040189
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312023	Uba2	ubiquitin-like modifier activating enzyme 2	gene	DOID:987	alopecia		ISO	RGD:1602133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:25741868
1312024	Irf8	interferon regulatory factor 8	gene	DOID:0050700	cardiomyopathy	ameliorates	ISO	RGD:1621626	D	RGD:11251869|PMID:24526256	20230629	RGD			
1312024	Irf8	interferon regulatory factor 8	gene	DOID:0060761	familial chronic myelocytic leukemia-like syndrome		ISS	RGD:1621626	D	RGD:13592920	20180518	MouseDO		OMIM:600080	
1312024	Irf8	interferon regulatory factor 8	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1621626	D	RGD:11530030|PMID:20585039	20160819	RGD			
1312024	Irf8	interferon regulatory factor 8	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1621626	D	RGD:11530030|PMID:20585039	20160819	RGD			
1312024	Irf8	interferon regulatory factor 8	gene	DOID:0111985	immunodeficiency 32B		ISO	RGD:1351360	D	RGD:7240710	20190315	OMIM			
1312024	Irf8	interferon regulatory factor 8	gene	DOID:0111985	immunodeficiency 32B		ISO	RGD:1351360	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 32B | ClinVar Annotator: match by term: Immunodeficiency 32B | ClinVar Annotator: match by term: Immunodeficiency 32b	PMID:16199547|PMID:17576681|PMID:25741868|PMID:27893462|PMID:28492532|PMID:30840779|PMID:32499645|PMID:32901917|PMID:34666172|PMID:35338423|PMID:35753512|PMID:9536098
1312024	Irf8	interferon regulatory factor 8	gene	DOID:0111986	immunodeficiency 32A		ISO	RGD:1351360	D	RGD:7240710	20150701	OMIM			
1312024	Irf8	interferon regulatory factor 8	gene	DOID:0111986	immunodeficiency 32A		ISO	RGD:1351360	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 32A | ClinVar Annotator: match by term: Immunodeficiency 32a | ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32499645|PMID:35753512|PMID:9536098
1312024	Irf8	interferon regulatory factor 8	gene	DOID:13241	Behcet's disease		ISO	RGD:1351360	D	RGD:329902079|PMID:28881647	20230630	RGD		DNA:Hypermethylation	
1312024	Irf8	interferon regulatory factor 8	gene	DOID:13241	Behcet's disease		ISO	RGD:1351360	D	RGD:329955373|PMID:28592884	20230711	RGD		protein:decreased expression:Peripheral blood mononuclear cells, monocytes (human)	
1312024	Irf8	interferon regulatory factor 8	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:1351360	D	RGD:329902077|PMID:26794091	20230630	RGD		DNA:SNPs,haplotypes: (rs17445836, rs11642873) (human)	
1312024	Irf8	interferon regulatory factor 8	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1351360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336|PMID:35609565
1312024	Irf8	interferon regulatory factor 8	gene	DOID:1657	ventricular septal defect		ISO	RGD:1351360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:32641753
1312024	Irf8	interferon regulatory factor 8	gene	DOID:2377	multiple sclerosis		ISO	RGD:1351360	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19525953
1312024	Irf8	interferon regulatory factor 8	gene	DOID:3526	cerebral infarction	exacerbates	ISO	RGD:1621626	D	RGD:329902074|PMID:24528256	20230629	RGD			
1312024	Irf8	interferon regulatory factor 8	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1351360	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868|PMID:28492532|PMID:32499645|PMID:35753512
1312024	Irf8	interferon regulatory factor 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1312024	Irf8	interferon regulatory factor 8	gene	DOID:630	genetic disease		ISO	RGD:1351360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1312024	Irf8	interferon regulatory factor 8	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1351360	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
1312024	Irf8	interferon regulatory factor 8	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1351360	D	RGD:329902076|PMID:23661672	20230629	RGD		DNA:SNPs:intron 4, intron 2: (rs925994,rs10514610) (human)	
1312024	Irf8	interferon regulatory factor 8	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351360	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1312024	Irf8	interferon regulatory factor 8	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1621626	D	RGD:329902072|PMID:34400126	20230629	RGD			
1312024	Irf8	interferon regulatory factor 8	gene	DOID:9002514	Neointima	ameliorates	ISO	RGD:1621626	D	RGD:329902075|PMID:24248596	20230629	RGD		associated with Carotid Artery Injuries	
1312024	Irf8	interferon regulatory factor 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312024	Irf8	interferon regulatory factor 8	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1351360	D	RGD:329961559|PMID:27021335	20230725	RGD		DNA:SNP: (rs4843869) (human)	
1312024	Irf8	interferon regulatory factor 8	gene	DOID:9538	multiple myeloma		ISO	RGD:1351360	D	RGD:329902071|PMID:23114132	20230629	RGD		DNA:hypermethylation	
1312025	Slfn5	schlafen family member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1603889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312025	Slfn5	schlafen family member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1603889	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1312025	Slfn5	schlafen family member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312025	Slfn5	schlafen family member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312026	Peak1	pseudopodium-enriched atypical kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:7374592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1312026	Peak1	pseudopodium-enriched atypical kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:7374592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1312026	Peak1	pseudopodium-enriched atypical kinase 1	gene	DOID:1909	melanoma		ISO	RGD:7374592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1312026	Peak1	pseudopodium-enriched atypical kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:7374592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1312026	Peak1	pseudopodium-enriched atypical kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:7374592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312026	Peak1	pseudopodium-enriched atypical kinase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:7374592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1312026	Peak1	pseudopodium-enriched atypical kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:7374592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312026	Peak1	pseudopodium-enriched atypical kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:7374592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312026	Peak1	pseudopodium-enriched atypical kinase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:7374592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1312027	Pold3	DNA polymerase delta 3, accessory subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1312027	Pold3	DNA polymerase delta 3, accessory subunit	gene	DOID:0061088	immunodeficiency 122		ISO	RGD:1323795	D	RGD:7240710	20240717	OMIM			
1312027	Pold3	DNA polymerase delta 3, accessory subunit	gene	DOID:0061088	immunodeficiency 122		ISO	RGD:1323795	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 122 | ClinVar Annotator: match by term: POLD3-related disorder	PMID:25741868|PMID:28492532
1312027	Pold3	DNA polymerase delta 3, accessory subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1323795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312027	Pold3	DNA polymerase delta 3, accessory subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1312027	Pold3	DNA polymerase delta 3, accessory subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1323795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1312027	Pold3	DNA polymerase delta 3, accessory subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1312027	Pold3	DNA polymerase delta 3, accessory subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312027	Pold3	DNA polymerase delta 3, accessory subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312027	Pold3	DNA polymerase delta 3, accessory subunit	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1323795	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:22634755|PMID:30510241
1312027	Pold3	DNA polymerase delta 3, accessory subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1312028	Pgam5	PGAM family member 5, mitochondrial serine/threonine protein phosphatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604217	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312028	Pgam5	PGAM family member 5, mitochondrial serine/threonine protein phosphatase	gene	DOID:1909	melanoma		ISO	RGD:1604217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1312028	Pgam5	PGAM family member 5, mitochondrial serine/threonine protein phosphatase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1312028	Pgam5	PGAM family member 5, mitochondrial serine/threonine protein phosphatase	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1604217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1312028	Pgam5	PGAM family member 5, mitochondrial serine/threonine protein phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312028	Pgam5	PGAM family member 5, mitochondrial serine/threonine protein phosphatase	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1604217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1312028	Pgam5	PGAM family member 5, mitochondrial serine/threonine protein phosphatase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1312029	Plekhf2	pleckstrin homology and FYVE domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1312030	Cnih1	cornichon family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312031	Zfp35	zinc finger protein 35	gene	DOID:10534	stomach cancer		ISO	RGD:1350135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312031	Zfp35	zinc finger protein 35	gene	DOID:1115	sarcoma		ISO	RGD:1350135	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1312031	Zfp35	zinc finger protein 35	gene	DOID:1909	melanoma		ISO	RGD:1350135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1312031	Zfp35	zinc finger protein 35	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1312031	Zfp35	zinc finger protein 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312031	Zfp35	zinc finger protein 35	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1312031	Zfp35	zinc finger protein 35	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312032	Nckap1l	NCK associated protein 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312032	Nckap1l	NCK associated protein 1 like	gene	DOID:0112015	immunodeficiency 72		ISO	RGD:1323803	D	RGD:7240710	20200902	OMIM			
1312032	Nckap1l	NCK associated protein 1 like	gene	DOID:0112015	immunodeficiency 72		ISO	RGD:1323803	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION AND LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 72 with autoinflammation | ClinVar Annotator: match by term: NCKAP1L-related condition	PMID:25741868|PMID:28492532|PMID:32647003|PMID:35753512
1312032	Nckap1l	NCK associated protein 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312032	Nckap1l	NCK associated protein 1 like	gene	DOID:1115	sarcoma		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1312032	Nckap1l	NCK associated protein 1 like	gene	DOID:1909	melanoma		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1312032	Nckap1l	NCK associated protein 1 like	gene	DOID:3275	thymoma		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1312032	Nckap1l	NCK associated protein 1 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1312032	Nckap1l	NCK associated protein 1 like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1312032	Nckap1l	NCK associated protein 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1323803	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1312032	Nckap1l	NCK associated protein 1 like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323803	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1312032	Nckap1l	NCK associated protein 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312032	Nckap1l	NCK associated protein 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312033	Neil2	nei-like DNA glycosylase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312033	Neil2	nei-like DNA glycosylase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312033	Neil2	nei-like DNA glycosylase 2	gene	DOID:1324	lung cancer		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1312033	Neil2	nei-like DNA glycosylase 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1323805	D	RGD:8554872	20220104	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm	PMID:32748548
1312033	Neil2	nei-like DNA glycosylase 2	gene	DOID:1909	melanoma		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1312033	Neil2	nei-like DNA glycosylase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1312033	Neil2	nei-like DNA glycosylase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1312033	Neil2	nei-like DNA glycosylase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323805	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1312033	Neil2	nei-like DNA glycosylase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312033	Neil2	nei-like DNA glycosylase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1312033	Neil2	nei-like DNA glycosylase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1312033	Neil2	nei-like DNA glycosylase 2	gene	DOID:9002189	High Myopia		ISO	RGD:1323805	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1312034	Klhl26	kelch-like family member 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312034	Klhl26	kelch-like family member 26	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1312034	Klhl26	kelch-like family member 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312034	Klhl26	kelch-like family member 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312034	Klhl26	kelch-like family member 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312035	Stk4	serine/threonine kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312035	Stk4	serine/threonine kinase 4	gene	DOID:0080855	Parkinsonism		ISO	RGD:1323808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:22174160|PMID:25741868|PMID:28492532|PMID:34146746
1312035	Stk4	serine/threonine kinase 4	gene	DOID:10908	hydrocephalus		ISO	RGD:1323808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:22174160|PMID:25741868|PMID:28492532|PMID:34146746
1312035	Stk4	serine/threonine kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1312035	Stk4	serine/threonine kinase 4	gene	DOID:1596	depressive disorder		ISO	RGD:1323808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:22174160|PMID:25741868|PMID:28492532|PMID:34146746
1312035	Stk4	serine/threonine kinase 4	gene	DOID:3275	thymoma		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1312035	Stk4	serine/threonine kinase 4	gene	DOID:3312	bipolar disorder		ISO	RGD:1323808	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
1312035	Stk4	serine/threonine kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1312035	Stk4	serine/threonine kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1323808	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1312035	Stk4	serine/threonine kinase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1312035	Stk4	serine/threonine kinase 4	gene	DOID:5723	optic atrophy		ISO	RGD:1323808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:22174160|PMID:25741868|PMID:28492532|PMID:34146746
1312035	Stk4	serine/threonine kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312035	Stk4	serine/threonine kinase 4	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1323808	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	
1312035	Stk4	serine/threonine kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1323808	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1312035	Stk4	serine/threonine kinase 4	gene	DOID:9000240	T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations		ISO	RGD:1323808	D	RGD:7240710	20140903	OMIM			
1312035	Stk4	serine/threonine kinase 4	gene	DOID:9000240	T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: STK4-related condition | ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations	PMID:25741868|PMID:28492532
1312035	Stk4	serine/threonine kinase 4	gene	DOID:9000495	Tremor		ISO	RGD:1323808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Action tremor	PMID:22174160|PMID:25741868|PMID:28492532|PMID:34146746
1312035	Stk4	serine/threonine kinase 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1323808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:22174160|PMID:25741868|PMID:28492532|PMID:34146746
1312035	Stk4	serine/threonine kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312037	Psenen	presenilin enhancer gamma secretase subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1312037	Psenen	presenilin enhancer gamma secretase subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1347919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1312037	Psenen	presenilin enhancer gamma secretase subunit	gene	DOID:9001644	Familial Acne Inversa 2		ISO	RGD:1347919	D	RGD:7240710	20210721	OMIM			
1312037	Psenen	presenilin enhancer gamma secretase subunit	gene	DOID:9001644	Familial Acne Inversa 2		ISO	RGD:1347919	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE | ClinVar Annotator: match by term: Acne inversa, familial, 2	PMID:20929727|PMID:25741868|PMID:27098992|PMID:27900998|PMID:28922471|PMID:34330582|PMID:35146980
1312037	Psenen	presenilin enhancer gamma secretase subunit	gene	DOID:9008895	Familial Hidradenitis Suppurativa		ISO	RGD:1347919	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20929727
1312038	Agmo	alkylglycerol monooxygenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312038	Agmo	alkylglycerol monooxygenase	gene	DOID:10534	stomach cancer		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312038	Agmo	alkylglycerol monooxygenase	gene	DOID:1059	intellectual disability		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1312038	Agmo	alkylglycerol monooxygenase	gene	DOID:1115	sarcoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1312038	Agmo	alkylglycerol monooxygenase	gene	DOID:12849	autistic disorder		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1312038	Agmo	alkylglycerol monooxygenase	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1312038	Agmo	alkylglycerol monooxygenase	gene	DOID:1909	melanoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1312038	Agmo	alkylglycerol monooxygenase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1312038	Agmo	alkylglycerol monooxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312038	Agmo	alkylglycerol monooxygenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1312038	Agmo	alkylglycerol monooxygenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1312038	Agmo	alkylglycerol monooxygenase	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1312038	Agmo	alkylglycerol monooxygenase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1312038	Agmo	alkylglycerol monooxygenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1312039	Dyrk2	dual specificity tyrosine phosphorylation regulated kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312039	Dyrk2	dual specificity tyrosine phosphorylation regulated kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1323814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1312039	Dyrk2	dual specificity tyrosine phosphorylation regulated kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312039	Dyrk2	dual specificity tyrosine phosphorylation regulated kinase 2	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1323814	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1312041	Shisa4	shisa family member 4	gene	DOID:0060058	lymphoma		ISO	RGD:1323817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1312041	Shisa4	shisa family member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1312041	Shisa4	shisa family member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1312041	Shisa4	shisa family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1312041	Shisa4	shisa family member 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1312042	Lnpk	lunapark, ER junction formation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312042	Lnpk	lunapark, ER junction formation factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1312042	Lnpk	lunapark, ER junction formation factor	gene	DOID:3275	thymoma		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1312042	Lnpk	lunapark, ER junction formation factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1312042	Lnpk	lunapark, ER junction formation factor	gene	DOID:630	genetic disease		ISO	RGD:1323819	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1312042	Lnpk	lunapark, ER junction formation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1312042	Lnpk	lunapark, ER junction formation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312042	Lnpk	lunapark, ER junction formation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312042	Lnpk	lunapark, ER junction formation factor	gene	DOID:9009221	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM		ISO	RGD:1323819	D	RGD:7240710	20190315	OMIM			
1312042	Lnpk	lunapark, ER junction formation factor	gene	DOID:9009221	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM		ISO	RGD:1323819	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LNPK-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	PMID:25741868|PMID:28492532
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1323821	D	RGD:8554872	20191112	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1323821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:0080357	mitochondrial complex IV deficiency nuclear type 2		ISO	RGD:1323821	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:0080358	mitochondrial complex IV deficiency nuclear type 6		ISO	RGD:1323821	D	RGD:7240710	20150114	OMIM			
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:0080358	mitochondrial complex IV deficiency nuclear type 6		ISO	RGD:1323821	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: COX15-related condition | ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6	PMID:12474143|PMID:15235026|PMID:15863660|PMID:21412973|PMID:25741868|PMID:26940873|PMID:28492532|PMID:31102535|PMID:31967322|PMID:32232962|PMID:38703036|PMID:39113384
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1323821	D	RGD:1598468|PMID:12474143	20061130	RGD			
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:1324	lung cancer		ISO	RGD:1323821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:1909	melanoma		ISO	RGD:1323821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:3652	Leigh disease		ISO	RGD:1323821	D	RGD:1598467|PMID:15235026	20061130	RGD			
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:3652	Leigh disease		ISO	RGD:1323821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868|PMID:28492532
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1323821	D	RGD:11554173	20250708	CTD		CTD Direct Evidence: marker/mechanism	
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:4362	cervical cancer		ISO	RGD:1323821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:630	genetic disease		ISO	RGD:1323821	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12474143|PMID:15235026|PMID:21412973|PMID:25741868|PMID:26940873|PMID:28492532|PMID:31967322|PMID:32232962|PMID:38703036
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:15863660|PMID:16199547|PMID:21412973|PMID:28492532
1312043	Cox15	cytochrome c oxidase assembly factor COX15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312045	Tex10	testis expressed 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312045	Tex10	testis expressed 10	gene	DOID:10534	stomach cancer		ISO	RGD:1323824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312045	Tex10	testis expressed 10	gene	DOID:1115	sarcoma		ISO	RGD:1323824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1312045	Tex10	testis expressed 10	gene	DOID:1324	lung cancer		ISO	RGD:1323824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1312045	Tex10	testis expressed 10	gene	DOID:1909	melanoma		ISO	RGD:1323824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1312045	Tex10	testis expressed 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1312045	Tex10	testis expressed 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1312045	Tex10	testis expressed 10	gene	DOID:4362	cervical cancer		ISO	RGD:1323824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1312045	Tex10	testis expressed 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312045	Tex10	testis expressed 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1312045	Tex10	testis expressed 10	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1312045	Tex10	testis expressed 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1312045	Tex10	testis expressed 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:0060180	colitis		ISO	RGD:1323827	D	RGD:5687320|PMID:16543288	20120207	RGD			
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:0070096	oculocutaneous albinism type II		ISO	RGD:1323826	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:0070096	oculocutaneous albinism type II		ISO	RGD:1323826	D	RGD:7240710	20131218	OMIM			
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:0070096	oculocutaneous albinism type II		ISO	RGD:1323826	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Albinism, oculocutaneous, type II | ClinVar Annotator: match by term: Oculocutaneous albinism type 2 | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism	PMID:10631149|PMID:11030758|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12839583|PMID:12851329|PMID:14757863|PMID:14961558|PMID:15221796|PMID:15979202|PMID:15998953|PMID:16280005|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16988943|PMID:17072629|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:19269164|PMID:19320745|PMID:19585506|PMID:19710684|PMID:20629734|PMID:20876876|PMID:21128237|PMID:22547573|PMID:22978401|PMID:23522749|PMID:23647022|PMID:24033266|PMID:24335900|PMID:25741868|PMID:26103569|PMID:26197705|PMID:28242083|PMID:28492532|PMID:31382929|PMID:9302268
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:0110019	age related macular degeneration 7		ISO	RGD:1323826	D	RGD:8554872	20240528	ClinVar		ClinVar Annotator: match by term: Macular degeneration, age-related, neovascular type	
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:12306	vitiligo		ISO	RGD:1323826	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561518
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:1470	major depressive disorder		ISO	RGD:1323826	D	RGD:5687198|PMID:21052032	20120206	RGD		DNA:SNP:cds: rs885479,R163Q	
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:1612	breast cancer		ISO	RGD:1323826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cancer breast	PMID:10631149|PMID:16601669|PMID:17616515|PMID:19585506|PMID:19710684|PMID:21128237|PMID:25741868|PMID:28492532|PMID:9302268
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:1909	melanoma		ISO	RGD:1323826	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578364|PMID:21559390|PMID:21983785
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:1909	melanoma		ISO	RGD:1323826	D	RGD:1600619|PMID:8894704	20070320	RGD		DNA:missense mutations:cds:multiple (human)	
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:1909	melanoma		ISO	RGD:1323826	D	RGD:6484659|PMID:17434924	20120627	RGD		DNA:missense mutations:cds:multiple (human)	
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:1909	melanoma		ISO	RGD:1323826	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17616515|PMID:18366057|PMID:21128237|PMID:23647022|PMID:24033266|PMID:25741868|PMID:26103569|PMID:26197705|PMID:28492532
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1323826	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539553
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1323827	D	RGD:5687319|PMID:20126537	20120207	RGD			
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:3310	atopic dermatitis		ISO	RGD:1323827	D	RGD:5687321|PMID:19889022	20120207	RGD		protein: increased expression: skin	
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:6741	bilateral breast cancer		ISO	RGD:1323826	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Bilateral breast cancer	PMID:16809487|PMID:16982779|PMID:24335900|PMID:24982914|PMID:25741868|PMID:28492532
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:6846	familial melanoma		ISO	RGD:1323826	D	RGD:7240710	20131218	OMIM			
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:6846	familial melanoma		ISO	RGD:1323826	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10403794|PMID:10631149|PMID:10733465|PMID:10816645|PMID:11030758|PMID:11254446|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12687585|PMID:12839583|PMID:12851329|PMID:12876664|PMID:14757863|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15957185|PMID:15979202|PMID:15994880|PMID:15998953|PMID:16172233|PMID:16280005|PMID:16309897|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17279550|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:17952075|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:18803811|PMID:18839200|PMID:18983535|PMID:19194882|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19493000|PMID:19585506|PMID:19656326|PMID:19710684|PMID:19799798|PMID:19924138|PMID:20043015|PMID:20158590|PMID:20457063|PMID:20629734|PMID:20876876|PMID:21128237|PMID:21672182|PMID:21749400|PMID:22079958|PMID:22095472|PMID:22095742|PMID:22493355|PMID:22547573|PMID:22854540|PMID:22978401|PMID:23312576|PMID:23360207|PMID:23384855|PMID:23522749|PMID:23647022|PMID:23711066|PMID:24033266|PMID:24045876|PMID:24238329|PMID:24335900|PMID:24439955|PMID:24617981|PMID:24982914|PMID:25268584|PMID:25284244|PMID:25631192|PMID:25736238|PMID:25741868|PMID:25794181|PMID:26103569|PMID:26197705|PMID:26389967|PMID:26546047|PMID:26800492|PMID:27084066|PMID:27229376|PMID:27473757|PMID:28166811|PMID:28242083|PMID:28492532|PMID:28869973|PMID:29340229|PMID:31382929|PMID:7581459|PMID:8894704|PMID:8944016|PMID:8990005|PMID:9032047|PMID:9302268|PMID:9571181|PMID:9665397
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:6846	familial melanoma		ISO	RGD:1323826	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10403794|PMID:10631149|PMID:10733465|PMID:10816645|PMID:11030758|PMID:11254446|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12687585|PMID:12839583|PMID:12851329|PMID:12876664|PMID:14757863|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15957185|PMID:15979202|PMID:15994880|PMID:15998953|PMID:16172233|PMID:16280005|PMID:16309897|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17279550|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:17952075|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:18803811|PMID:18839200|PMID:18983535|PMID:19194882|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19493000|PMID:19585506|PMID:19656326|PMID:19710684|PMID:19799798|PMID:19924138|PMID:20043015|PMID:20158590|PMID:20457063|PMID:20629734|PMID:20876876|PMID:21128237|PMID:21430882|PMID:21672182|PMID:21749400|PMID:22079958|PMID:22095472|PMID:22095742|PMID:22493355|PMID:22547573|PMID:22854540|PMID:22978401|PMID:23312576|PMID:23360207|PMID:23522749|PMID:23647022|PMID:24033266|PMID:24045876|PMID:24238329|PMID:24335900|PMID:24439955|PMID:24617981|PMID:24982914|PMID:25268584|PMID:25284244|PMID:25631192|PMID:25736238|PMID:25741868|PMID:25794181|PMID:26103569|PMID:26197705|PMID:26389967|PMID:26800492|PMID:27084066|PMID:27473757|PMID:28166811|PMID:28242083|PMID:28492532|PMID:28869973|PMID:29340229|PMID:31382929|PMID:7581459|PMID:8894704|PMID:8944016|PMID:8990005|PMID:9032047|PMID:9302268|PMID:9571181|PMID:9665397
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:6846	familial melanoma		ISO	RGD:1323826	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:10403794|PMID:10631149|PMID:10733465|PMID:10816645|PMID:11030758|PMID:11254446|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12687585|PMID:12839583|PMID:12851329|PMID:12876664|PMID:14757863|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15957185|PMID:15979202|PMID:15994880|PMID:15998953|PMID:16172233|PMID:16280005|PMID:16309897|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17279550|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:17952075|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:18803811|PMID:18839200|PMID:18983535|PMID:19194882|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19493000|PMID:19585506|PMID:19656326|PMID:19710684|PMID:19799798|PMID:19924138|PMID:20043015|PMID:20158590|PMID:20457063|PMID:20629734|PMID:20876876|PMID:21128237|PMID:21430882|PMID:21672182|PMID:21749400|PMID:22079958|PMID:22095472|PMID:22095742|PMID:22493355|PMID:22547573|PMID:22854540|PMID:22978401|PMID:23312576|PMID:23360207|PMID:23384855|PMID:23522749|PMID:23647022|PMID:23711066|PMID:24033266|PMID:24045876|PMID:24238329|PMID:24335900|PMID:24439955|PMID:24617981|PMID:24660985|PMID:24982914|PMID:25268584|PMID:25284244|PMID:25631192|PMID:25736238|PMID:25741868|PMID:25794181|PMID:26103569|PMID:26197705|PMID:26389780|PMID:26389967|PMID:26800492|PMID:27084066|PMID:27229376|PMID:27473757|PMID:28242083|PMID:28492532|PMID:28869973|PMID:29340229|PMID:31382929|PMID:7581459|PMID:8605020|PMID:8894704|PMID:8944016|PMID:8990005|PMID:9032047|PMID:9302268|PMID:9571181|PMID:9665397
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:6846	familial melanoma		ISO	RGD:1323826	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10403794|PMID:10631149|PMID:10733465|PMID:10816645|PMID:11030758|PMID:11254446|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12687585|PMID:12839583|PMID:12851329|PMID:12876664|PMID:14757863|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15957185|PMID:15979202|PMID:15994880|PMID:15998953|PMID:16172233|PMID:16280005|PMID:16309897|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17279550|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:17952075|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:18803811|PMID:18839200|PMID:18983535|PMID:19194882|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19493000|PMID:19585506|PMID:19656326|PMID:19710684|PMID:19799798|PMID:19924138|PMID:20043015|PMID:20158590|PMID:20457063|PMID:20629734|PMID:20876876|PMID:21128237|PMID:21430882|PMID:21672182|PMID:21749400|PMID:22079958|PMID:22095472|PMID:22095742|PMID:22464597|PMID:22493355|PMID:22547573|PMID:22854540|PMID:22978401|PMID:23312576|PMID:23360207|PMID:23384855|PMID:23522749|PMID:23647022|PMID:23711066|PMID:24033266|PMID:24045876|PMID:24238329|PMID:24335900|PMID:24439955|PMID:24617981|PMID:24660985|PMID:24982914|PMID:25268584|PMID:25284244|PMID:25631192|PMID:25736238|PMID:25741868|PMID:25794181|PMID:26103569|PMID:26197705|PMID:26389780|PMID:26389967|PMID:26800492|PMID:27084066|PMID:27229376|PMID:27473757|PMID:28242083|PMID:28360400|PMID:28492532|PMID:28869973|PMID:29340229|PMID:31382929|PMID:34326492|PMID:7581459|PMID:8605020|PMID:8894704|PMID:8944016|PMID:8990005|PMID:9032047|PMID:9302268|PMID:9571181|PMID:9665397
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:6846	familial melanoma		ISO	RGD:1323826	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:10403794|PMID:10631149|PMID:10733465|PMID:10816645|PMID:11030758|PMID:11254446|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12687585|PMID:12839583|PMID:12851329|PMID:12876664|PMID:14757863|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15957185|PMID:15979202|PMID:15994880|PMID:15998953|PMID:16280005|PMID:16309897|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17279550|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:17952075|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:18803811|PMID:18839200|PMID:18983535|PMID:19194882|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19493000|PMID:19585506|PMID:19656326|PMID:19710684|PMID:19799798|PMID:19924138|PMID:20043015|PMID:20158590|PMID:20457063|PMID:20629734|PMID:20876876|PMID:21128237|PMID:21430882|PMID:21672182|PMID:21749400|PMID:22079958|PMID:22095472|PMID:22095742|PMID:22464597|PMID:22493355|PMID:22547573|PMID:22854540|PMID:22978401|PMID:23312576|PMID:23360207|PMID:23384855|PMID:23522749|PMID:23647022|PMID:23711066|PMID:24033266|PMID:24045876|PMID:24238329|PMID:24335900|PMID:24439955|PMID:24617981|PMID:24660985|PMID:24982914|PMID:25268584|PMID:25284244|PMID:25631192|PMID:25736238|PMID:25741868|PMID:25794181|PMID:26103569|PMID:26197705|PMID:26389780|PMID:26389967|PMID:26800492|PMID:27084066|PMID:27229376|PMID:27854218|PMID:28242083|PMID:28360400|PMID:28492532|PMID:28869973|PMID:29340229|PMID:31382929|PMID:34326492|PMID:7581459|PMID:8605020|PMID:8894704|PMID:8944016|PMID:8990005|PMID:9032047|PMID:9302268|PMID:9571181|PMID:9665397
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:6846	familial melanoma		ISO	RGD:1323826	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10403794|PMID:10631149|PMID:10733465|PMID:10816645|PMID:11030758|PMID:11254446|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12687585|PMID:12839583|PMID:12851329|PMID:12876664|PMID:14757863|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15957185|PMID:15979202|PMID:15994880|PMID:15998953|PMID:16280005|PMID:16309897|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17279550|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:17952075|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:18803811|PMID:18839200|PMID:18983535|PMID:19194882|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19493000|PMID:19585506|PMID:19656326|PMID:19710684|PMID:19799798|PMID:19924138|PMID:20043015|PMID:20158590|PMID:20457063|PMID:20629734|PMID:20876876|PMID:21128237|PMID:21430882|PMID:21672182|PMID:21749400|PMID:22079958|PMID:22095472|PMID:22095742|PMID:22464597|PMID:22493355|PMID:22547573|PMID:22854540|PMID:22978401|PMID:23312576|PMID:23360207|PMID:23384855|PMID:23522749|PMID:23647022|PMID:23711066|PMID:24033266|PMID:24045876|PMID:24238329|PMID:24335900|PMID:24439955|PMID:24617981|PMID:24660985|PMID:24982914|PMID:25268584|PMID:25284244|PMID:25631192|PMID:25736238|PMID:25741868|PMID:25794181|PMID:26103569|PMID:26197705|PMID:26389780|PMID:26389967|PMID:26800492|PMID:27084066|PMID:27229376|PMID:28242083|PMID:28360400|PMID:28492532|PMID:28869973|PMID:29340229|PMID:31382929|PMID:34326492|PMID:7581459|PMID:8605020|PMID:8894704|PMID:8944016|PMID:8990005|PMID:9032047|PMID:9302268|PMID:9571181|PMID:9665397
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:6846	familial melanoma		ISO	RGD:1323826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:10631149|PMID:10733465|PMID:10816645|PMID:11030758|PMID:11254446|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12687585|PMID:12839583|PMID:12851329|PMID:14757863|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15957185|PMID:15979202|PMID:15998953|PMID:16280005|PMID:16309897|PMID:16463023|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17279550|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:18803811|PMID:18839200|PMID:18983535|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19585506|PMID:19710684|PMID:19799798|PMID:20043015|PMID:20158590|PMID:20457063|PMID:20629734|PMID:20876876|PMID:21128237|PMID:21430882|PMID:21672182|PMID:21749400|PMID:22079958|PMID:22095472|PMID:22493355|PMID:22547573|PMID:22854540|PMID:22978401|PMID:23312576|PMID:23360207|PMID:23384855|PMID:23522749|PMID:23647022|PMID:23711066|PMID:24033266|PMID:24045876|PMID:24238329|PMID:24335900|PMID:24660985|PMID:24982914|PMID:25268584|PMID:25284244|PMID:25631192|PMID:25736238|PMID:25741868|PMID:25794181|PMID:26103569|PMID:26197705|PMID:26800492|PMID:27084066|PMID:27229376|PMID:28242083|PMID:28492532|PMID:28869973|PMID:29340229|PMID:31382929|PMID:37956964|PMID:7581459|PMID:8605020|PMID:8894704|PMID:8944016|PMID:8990005|PMID:9032047|PMID:9302268
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:6846	familial melanoma		ISO	RGD:1323826	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:10631149|PMID:10733465|PMID:10816645|PMID:11030758|PMID:11254446|PMID:11487574|PMID:11511307|PMID:11707265|PMID:11933208|PMID:12687585|PMID:12839583|PMID:12851329|PMID:14757863|PMID:14961558|PMID:14975928|PMID:15221796|PMID:15957185|PMID:15979202|PMID:15998953|PMID:16280005|PMID:16309897|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16645598|PMID:16809487|PMID:16982779|PMID:16988943|PMID:17072629|PMID:17279550|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:18803811|PMID:18839200|PMID:18983535|PMID:19269164|PMID:19320745|PMID:19338054|PMID:19585506|PMID:19710684|PMID:19799798|PMID:20043015|PMID:20158590|PMID:20457063|PMID:20629734|PMID:20876876|PMID:21128237|PMID:21430882|PMID:21672182|PMID:21749400|PMID:22079958|PMID:22095472|PMID:22493355|PMID:22547573|PMID:22854540|PMID:22978401|PMID:23312576|PMID:23360207|PMID:23384855|PMID:23522749|PMID:23647022|PMID:23711066|PMID:24033266|PMID:24045876|PMID:24238329|PMID:24335900|PMID:24660985|PMID:24982914|PMID:25268584|PMID:25284244|PMID:25631192|PMID:25736238|PMID:25741868|PMID:25794181|PMID:26103569|PMID:26197705|PMID:26800492|PMID:27084066|PMID:27229376|PMID:28242083|PMID:28492532|PMID:28869973|PMID:29340229|PMID:31382929|PMID:37956964|PMID:8605020|PMID:9032047|PMID:9302268
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:874	bacterial pneumonia		ISO	RGD:1323827	D	RGD:5687324|PMID:18304533	20120207	RGD			
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:8923	skin melanoma		ISO	RGD:1323826	D	RGD:11554173	20241224	CTD		CTD Direct Evidence: marker/mechanism	
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1323826	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19996949
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:9002782	UV-Induced Skin Damage		ISO	RGD:1323826	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO	PMID:16463023|PMID:28492532
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:9003137	Photophobia		ISO	RGD:1323826	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:25741868|PMID:26197705|PMID:28492532
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:9003838	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2		ISO	RGD:1323826	D	RGD:7240710	20210421	OMIM			
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:9003838	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2		ISO	RGD:1323826	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RED HAIR COLOR | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 2	PMID:10631149|PMID:11030758|PMID:11487574|PMID:11511307|PMID:11933208|PMID:12839583|PMID:12851329|PMID:15221796|PMID:15979202|PMID:15998953|PMID:16280005|PMID:16567973|PMID:16595073|PMID:16601669|PMID:16988943|PMID:17072629|PMID:17316231|PMID:17434924|PMID:17496785|PMID:17616515|PMID:18067130|PMID:18366057|PMID:18402696|PMID:18795926|PMID:19269164|PMID:19320745|PMID:19585506|PMID:19710684|PMID:20629734|PMID:20876876|PMID:21128237|PMID:22547573|PMID:22978401|PMID:23522749|PMID:23647022|PMID:24335900|PMID:25741868|PMID:26197705|PMID:28242083|PMID:28492532|PMID:31382929|PMID:9302268
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:9004009	Reperfusion Injury	no_association	ISO	RGD:1323827	D	RGD:5687323|PMID:18757499	20120207	RGD			
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:9004118	Experimental Melanoma		ISO	RGD:1323827	D	RGD:5687319|PMID:20126537	20120207	RGD			
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:9004713	Acute-Phase Reaction		IEP		D	RGD:6484138|PMID:22183812	20120612	RGD		mRNA:increased expression:liver (rat)	
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:9005660	Hypopigmentation		ISO	RGD:1323826	D	RGD:1600618|PMID:11030758	20070320	RGD		DNA:missense mutations,insertions:cds:multiple	
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:9006223	Kidney Reperfusion Injury		IEP		D	RGD:5687322|PMID:18790174	20120207	RGD		protein:decreased expression:kidney outer medulla	
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:9007480	Hyperoxia		ISO	RGD:1323827	D	RGD:6484136|PMID:8110467	20120626	RGD		mRNA:increased expression:lung (mouse)	
1312046	Mc1r	melanocortin 1 receptor	gene	DOID:9008103	Seasonal Allergic Rhinitis	no_association	ISO	RGD:1323827	D	RGD:5687317|PMID:20357480	20120207	RGD			
1312047	Hes6	hes family bHLH transcription factor 6	gene	DOID:3393	coronary artery disease		ISO	RGD:1323828	D	RGD:628374611|PMID:35934844	20251009	RGD		mRNA: increased expression:blood	
1312047	Hes6	hes family bHLH transcription factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312047	Hes6	hes family bHLH transcription factor 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:0070056	autosomal dominant intellectual developmental disorder 26		ISO	RGD:1323830	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency	PMID:25741868|PMID:36200388
1312048	Mycbp2	MYC binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1323830	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1312048	Mycbp2	MYC binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1323830	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1323830	D	RGD:596936225|PMID:26408707	20241226	RGD			
1312048	Mycbp2	MYC binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1312048	Mycbp2	MYC binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1323830	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:36200388
1312048	Mycbp2	MYC binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:33001864|PMID:36200388
1312048	Mycbp2	MYC binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1323830	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:36200388
1312048	Mycbp2	MYC binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:1459	hypothyroidism		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
1312048	Mycbp2	MYC binding protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1323830	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:36200388
1312048	Mycbp2	MYC binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1323830	D	RGD:596938165|PMID:30318507	20250106	RGD			
1312048	Mycbp2	MYC binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1312048	Mycbp2	MYC binding protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:3963	thyroid gland carcinoma	treatment	ISO	RGD:1323830	D	RGD:596936224|PMID:36582246	20241226	RGD			
1312048	Mycbp2	MYC binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1312048	Mycbp2	MYC binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323830	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1312048	Mycbp2	MYC binding protein 2	gene	DOID:540	strabismus		ISO	RGD:1323830	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:36200388
1312048	Mycbp2	MYC binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1312048	Mycbp2	MYC binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1323830	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:9001981	Weight Loss		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:25741868
1312048	Mycbp2	MYC binding protein 2	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:36200388
1312048	Mycbp2	MYC binding protein 2	gene	DOID:9003591	Telecanthus		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
1312048	Mycbp2	MYC binding protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323830	D	RGD:596936241|PMID:36200388	20250102	RGD		DNA:mutations:cds:	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323830	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:36200388
1312048	Mycbp2	MYC binding protein 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1312048	Mycbp2	MYC binding protein 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1312048	Mycbp2	MYC binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1312048	Mycbp2	MYC binding protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323830	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1312048	Mycbp2	MYC binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1312048	Mycbp2	MYC binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1312049	Akt1s1	AKT1 substrate 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1312049	Akt1s1	AKT1 substrate 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1312049	Akt1s1	AKT1 substrate 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1312049	Akt1s1	AKT1 substrate 1	gene	DOID:1909	melanoma		ISO	RGD:1323832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1312049	Akt1s1	AKT1 substrate 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1312049	Akt1s1	AKT1 substrate 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1312049	Akt1s1	AKT1 substrate 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1312049	Akt1s1	AKT1 substrate 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1323832	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:17457363
1312049	Akt1s1	AKT1 substrate 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1323832	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16397181
13204831	Cit<sup>fhJjlo</sup>	citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo	gene	DOID:10907	microcephaly		IAGP		D	RGD:13204836|PMID:10219263	20180501	RGD			
13204831	Cit<sup>fhJjlo</sup>	citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo	gene	DOID:1826	epilepsy		IAGP		D	RGD:13204836|PMID:10219263	20201210	RGD			
13209000	Cyba<sup>mesSdi</sup>	cytochrome b-245 alpha chain;mutant 1,Sdi	gene	DOID:9001371	Eosinophilia		IAGP		D	RGD:11040542|PMID:19406829	20170828	RGD			
1331720	Rf43	Renal function QTL 43	qtl	DOID:1073	renal hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331720	Rf43	Renal function QTL 43	qtl	DOID:557	kidney disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331721	Bp210	Blood pressure QTL 210	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331721	Bp210	Blood pressure QTL 210	qtl	DOID:114	heart disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331722	Thshl1	Thyroid stimulating hormone level QTL 1	qtl	DOID:50	thyroid gland disease		IAGP		D	RGD:1302891|PMID:15514085	19990101	RGD			
1331723	Bw25	Body weight QTL 25	qtl	DOID:9970	obesity		IDA		D	RGD:70849|PMID:11721057	19990101	RGD			
1331724	Bp223	Blood pressure QTL 223	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331725	Bp212	Blood pressure QTL 212	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331726	Bp208	Blood pressure QTL 208	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331726	Bp208	Blood pressure QTL 208	qtl	DOID:557	kidney disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331727	Bp237	Blood pressure QTL 237	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331728	Bp214	Blood pressure QTL 214	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331729	Rf42	Renal function QTL 42	qtl	DOID:1073	renal hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331729	Rf42	Renal function QTL 42	qtl	DOID:557	kidney disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331730	Scl27	Serum cholesterol level QTL 27	qtl	DOID:1168	familial hyperlipidemia		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331731	Bp216	Blood pressure QTL 216	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331732	Srn4	Serum renin concentration QTL 4	qtl	DOID:557	kidney disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331733	Bp233	Blood pressure QTL 233	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331734	Bp204	Blood pressure QTL 204	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331735	Rf44	Renal function QTL 44	qtl	DOID:576	proteinuria		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331736	Bp227	Blood pressure QTL 227	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331737	Uae29	Urinary albumin excretion QTL 29	qtl	DOID:576	proteinuria		IAGP		D	RGD:1300043|PMID:15161966	19990101	RGD			
1331737	Uae29	Urinary albumin excretion QTL 29	qtl	DOID:9001542	Albuminuria		IAGP		D	RGD:1300043|PMID:15161966	19990101	RGD			
1331738	Bp209	Blood pressure QTL 209	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331739	Hrtrt14	Heart rate QTL 14	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331739	Hrtrt14	Heart rate QTL 14	qtl	DOID:1287	cardiovascular system disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331740	Bw26	Body weight QTL 26	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331740	Bw26	Body weight QTL 26	qtl	DOID:114	heart disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331740	Bw26	Body weight QTL 26	qtl	DOID:9970	obesity		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331741	Bp232	Blood pressure QTL 232	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331742	Bp228	Blood pressure QTL 228	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331743	Uae28	Urinary albumin excretion QTL 28	qtl	DOID:576	proteinuria		IAGP		D	RGD:1300043|PMID:15161966	19990101	RGD			
1331743	Uae28	Urinary albumin excretion QTL 28	qtl	DOID:9001542	Albuminuria		IAGP		D	RGD:1300043|PMID:15161966	19990101	RGD			
1331744	Bp217	Blood pressure QTL 217	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331744	Bp217	Blood pressure QTL 217	qtl	DOID:576	proteinuria		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331745	Bp203	Blood pressure QTL 203	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331746	Kidm9	Kidney mass QTL 9	qtl	DOID:557	kidney disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331747	Hrtrt16	Heart rate QTL 16	qtl	DOID:114	heart disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331748	Bp215	Blood pressure QTL 215	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331749	Hrtrt11	Heart rate QTL 11	qtl	DOID:114	heart disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331750	Bp220	Blood pressure QTL 220	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331751	Bp199	Blood pressure QTL 199	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331752	Bw27	Body weight QTL 27	qtl	DOID:9970	obesity		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331753	Bp231	Blood pressure QTL 231	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331754	Bp230	Blood pressure QTL 230	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331755	Bp219	Blood pressure QTL 219	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331756	Rf34	Renal function QTL 34	qtl	DOID:557	kidney disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331757	Cdexp1	CD45RC expression in CD8 T cells QTL 1	qtl	DOID:417	autoimmune disease		IAGP		D	RGD:1302824|PMID:15322174	19990101	RGD			
1331758	Bp207	Blood pressure QTL 207	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331759	Hrtrt13	Heart rate QTL 13	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331759	Hrtrt13	Heart rate QTL 13	qtl	DOID:1287	cardiovascular system disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331760	Bp206	Blood pressure QTL 206	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331761	Bp218	Blood pressure QTL 218	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331762	Rf40	Renal function QTL 40	qtl	DOID:1073	renal hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331762	Rf40	Renal function QTL 40	qtl	DOID:557	kidney disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331763	Wbc2	White blood cell count QTL 2	qtl	DOID:114	heart disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331763	Wbc2	White blood cell count QTL 2	qtl	DOID:9005372	Inflammation		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331764	Bp205	Blood pressure QTL 205	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331765	Hrtrt15	Heart rate QTL 15	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331765	Hrtrt15	Heart rate QTL 15	qtl	DOID:1287	cardiovascular system disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331766	Bp236	Blood pressure QTL 236	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331767	Hrtrt12	Heart rate QTL 12	qtl	DOID:114	heart disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331768	Kidm10	Kidney mass QTL 10	qtl	DOID:557	kidney disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331769	Rf39	Renal function QTL 39	qtl	DOID:557	kidney disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331770	Bp234	Blood pressure QTL 234	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331771	Rf35	Renal function QTL 35	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331772	Cdexp2	CD45RC expression in CD8 T cells QTL 2	qtl	DOID:417	autoimmune disease		IAGP		D	RGD:1302824|PMID:15322174	19990101	RGD			
1331773	Scl26	Serum cholesterol level QTL 26	qtl	DOID:1168	familial hyperlipidemia		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331774	Bp226	Blood pressure QTL 226	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331775	Bp235	Blood pressure QTL 235	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331776	Bp225	Blood pressure QTL 225	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331777	Bw24	Body weight QTL 24	qtl	DOID:9970	obesity		IDA		D	RGD:70849|PMID:11721057	19990101	RGD			
1331778	Rf28	Renal function QTL 28	qtl	DOID:557	kidney disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331779	Rf38	Renal function QTL 38	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331780	Bp238	Blood pressure QTL 238	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331781	Scl28	Serum cholesterol level QTL 28	qtl	DOID:9000808	Hypercholesterolemia		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331782	Rf36	Renal function QTL 36	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331783	Bp221	Blood pressure QTL 221	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331784	Bp222	Blood pressure QTL 222	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331785	Rf27	Renal function QTL 27	qtl	DOID:1073	renal hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331785	Rf27	Renal function QTL 27	qtl	DOID:557	kidney disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331786	Kidm11	Kidney mass QTL 11	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331787	Rf41	Renal function QTL 41	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331788	Rf45	Renal function QTL 45	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331790	Bp201	Blood pressure QTL 201	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331791	Cm31	Cardiac mass QTL 31	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331791	Cm31	Cardiac mass QTL 31	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331792	Rf29	Renal function QTL 29	qtl	DOID:557	kidney disease		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331793	Bp200	Blood pressure QTL 200	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331794	Bp202	Blood pressure QTL 202	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331795	Rf30	Renal function QTL 30	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331796	Thshl2	Thyroid stimulating hormone level QTL 2	qtl	DOID:50	thyroid gland disease		IAGP		D	RGD:1302891|PMID:15514085	19990101	RGD			
1331797	Bp213	Blood pressure QTL 213	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331798	Bp224	Blood pressure QTL 224	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331799	Bp211	Blood pressure QTL 211	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331800	Scl25	Serum cholesterol level QTL 25	qtl	DOID:9000808	Hypercholesterolemia		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331801	Rf33	Renal function QTL 33	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331802	Srn5	Serum renin concentration QTL 5	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331803	Rf32	Renal function QTL 32	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331804	Cm30	Cardiac mass QTL 30	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331804	Cm30	Cardiac mass QTL 30	qtl	DOID:9970	obesity		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331805	Cm29	Cardiac mass QTL 29	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331806	Bp229	Blood pressure QTL 229	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331807	Rf31	Renal function QTL 31	qtl	DOID:10763	hypertension		IAGP		D	RGD:70849|PMID:11721057	19990101	RGD			
1331822	DA.ACI-(<i>D10Rat2-D10Rat6</i>)		strain	DOID:9002763	Experimental Autoimmune Encephalomyelitis	induces	IAGP	XCO:0000195	D	RGD:1302437|PMID:15240732	20200430	RGD			
1331824	DA.ACI-(<i>D10Rat219-D10Rat29</i>)		strain	DOID:9002763	Experimental Autoimmune Encephalomyelitis	penetrance	IAGP	XCO:0000195	D	RGD:1302437|PMID:15240732	20200430	RGD			
1331827	DA.ACI-(<i>D10Rat10-D10Rat142</i>)		strain	DOID:9002763	Experimental Autoimmune Encephalomyelitis	induces	IAGP	XCO:0000195	D	RGD:1302437|PMID:15240732	20200430	RGD			
1331830	F344.BN-(<i>D5Rat1-D5Mit5</i>)/Dlw		strain	DOID:3829	pituitary adenoma	penetrance	IAGP	XCO:0000295	D	RGD:1300042|PMID:15166088	20200313	RGD			
1331837	Bw23	Body weight QTL 23	qtl	DOID:9970	obesity		IDA		D	RGD:1300044|PMID:15164172	19990101	RGD			
1331838	Niddm61	Non-insulin dependent diabetes mellitus QTL 61	qtl	DOID:9352	type 2 diabetes mellitus		IAGP		D	RGD:1300044|PMID:15164172	19990101	RGD			
1331839	Eae18b	Experimental allergic encephalomyelitis QTL 18b	qtl	DOID:2377	multiple sclerosis		QTM		D	RGD:1302437|PMID:15240732	19990101	RGD			
1331839	Eae18b	Experimental allergic encephalomyelitis QTL 18b	qtl	DOID:9002763	Experimental Autoimmune Encephalomyelitis		QTM		D	RGD:1302437|PMID:15240732	19990101	RGD			
1332674	Or8k3	olfactory receptor family 8 subfamily K member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1342730	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1332674	Or8k3	olfactory receptor family 8 subfamily K member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1342730	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1332833	Or51e1	olfactory receptor family 51 subfamily E member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1332833	Or51e1	olfactory receptor family 51 subfamily E member 1	gene	DOID:303	substance-related disorder		ISO	RGD:1605574	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1332965	Or5k3	olfactory receptor family 5 subfamily K member 3	gene	DOID:4990	essential tremor		ISO	RGD:1347767	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: essential tremor	
1333285	Or5j1	olfactory receptor family 5 subfamily J member 1	gene	DOID:37	skin disease		ISO	RGD:1354256	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28720099
1333311	Or2h1	olfactory receptor family 2 subfamily H member 1	gene	DOID:1115	sarcoma		ISO	RGD:1353217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1333362	Or2l13	olfactory receptor family 2 subfamily L member 13	gene	DOID:3275	thymoma		ISO	RGD:1348735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1333362	Or2l13	olfactory receptor family 2 subfamily L member 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1333362	Or2l13	olfactory receptor family 2 subfamily L member 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1333494	Or8s5	olfactory receptor family 8 subfamily S member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351418	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
1333626	Or5k17	olfactory receptor family 5 subfamily K member 17	gene	DOID:4990	essential tremor		ISO	RGD:1342893	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: essential tremor	
1333783	Or4d2b	olfactory receptor family 4 subfamily D member 2B	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1344303	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1333784	Or6k2	olfactory receptor family 6 subfamily K member 2	gene	DOID:10283	prostate cancer		ISO	RGD:1352681	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1333784	Or6k2	olfactory receptor family 6 subfamily K member 2	gene	DOID:10283	prostate cancer		ISO	RGD:1352681	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1333798	Or4c3	olfactory receptor family 4 subfamily C member 3	gene	DOID:1059	intellectual disability		ISO	RGD:42723466	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Intellectual disability syndrome	
1333833	Or4c10b	olfactory receptor family 4 subfamily C member 10B	gene	DOID:5419	schizophrenia		ISO	RGD:1343294	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1333853	Or5ac16	olfactory receptor family 5 subfamily AC member 16	gene	DOID:10283	prostate cancer		ISO	RGD:1349503	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1333853	Or5ac16	olfactory receptor family 5 subfamily AC member 16	gene	DOID:10283	prostate cancer		ISO	RGD:1349503	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1333902	Or13a1	olfactory receptor family 13 subfamily A member 1	gene	DOID:1324	lung cancer		ISO	RGD:1603609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1333902	Or13a1	olfactory receptor family 13 subfamily A member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603609	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1333902	Or13a1	olfactory receptor family 13 subfamily A member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1333902	Or13a1	olfactory receptor family 13 subfamily A member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1333962	Or4c12	olfactory receptor family 4 subfamily C member 12	gene	DOID:10283	prostate cancer		ISO	RGD:1350996	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1333962	Or4c12	olfactory receptor family 4 subfamily C member 12	gene	DOID:10283	prostate cancer		ISO	RGD:1350996	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1334017	Or6c1h	olfactory receptor family 6 subfamily C member 1H	gene	DOID:4990	essential tremor		ISO	RGD:1342545	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: essential tremor	
1334055	Olr1096	olfactory receptor 1096	gene	DOID:10283	prostate cancer		ISO	RGD:1347587	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1334055	Olr1096	olfactory receptor 1096	gene	DOID:10283	prostate cancer		ISO	RGD:1347587	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1334058	Or14p1	olfactory receptor family 14 subfamily P member 1	gene	DOID:10283	prostate cancer		ISO	RGD:1352394	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1334058	Or14p1	olfactory receptor family 14 subfamily P member 1	gene	DOID:10283	prostate cancer		ISO	RGD:1352394	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1334070	Or5an1	olfactory receptor family 5 subfamily AN member 1	gene	DOID:1059	intellectual disability		ISO	RGD:42723466	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	
1334102	Or2t6	olfactory receptor family 2 subfamily T member 6	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1343167	D	RGD:8554872	20210413	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:28492532
1334108	Or9q1	olfactory receptor family 9 subfamily Q member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1334108	Or9q1	olfactory receptor family 9 subfamily Q member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1334176	Or4c105	olfactory receptor family 4 subfamily C member 105	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1342612	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
1334361	Or2t1	olfactory receptor family 2 subfamily T member 1	gene	DOID:10283	prostate cancer		ISO	RGD:1353113	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1334361	Or2t1	olfactory receptor family 2 subfamily T member 1	gene	DOID:10283	prostate cancer		ISO	RGD:1353113	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1334425	Or51b6b	olfactory receptor family 51 subfamily B member 6B	gene	DOID:1909	melanoma		ISO	RGD:1343909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1334425	Or51b6b	olfactory receptor family 51 subfamily B member 6B	gene	DOID:3275	thymoma		ISO	RGD:1343909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
13432064	Ugt1a1<sup>j</sup>	UDP glucuronosyltransferase family 1 member A1, jaundice mutant	gene	DOID:2741	bilirubin metabolic disorder		IAGP		D	RGD:1354702|PMID:15753292	20201210	RGD			
13432064	Ugt1a1<sup>j</sup>	UDP glucuronosyltransferase family 1 member A1, jaundice mutant	gene	DOID:9004898	Jaundice		IAGP		D	RGD:1354701|PMID:20323028	20201210	RGD			
13432064	Ugt1a1<sup>j</sup>	UDP glucuronosyltransferase family 1 member A1, jaundice mutant	gene	DOID:9005274	Polyuria		IAGP		D	RGD:1354701|PMID:20323028	20201210	RGD			
13432148	SS.ZUC-<i>Lepr<sup>fa-/-</sup></i>/Slc		strain	DOID:9007692	Insulin Resistance		IAGP		D	RGD:13432147|PMID:23154293	20170921	RGD			
13432148	SS.ZUC-<i>Lepr<sup>fa-/-</sup></i>/Slc		strain	DOID:9352	type 2 diabetes mellitus		IAGP		D	RGD:13432147|PMID:23154293	20170921	RGD			
13432153	Lepr<sup>fa</sup>	leptin receptor; fa mutant	gene	DOID:576	proteinuria		IAGP		D	RGD:7365117|PMID:20159938	20260604	RGD			
13432153	Lepr<sup>fa</sup>	leptin receptor; fa mutant	gene	DOID:9002916	Hyperphagia		IAGP		D	RGD:628910|PMID:9843879	20201210	RGD		compared to age-matched lean +/fa rats	
13432153	Lepr<sup>fa</sup>	leptin receptor; fa mutant	gene	DOID:9007692	Insulin Resistance		IAGP		D	RGD:13432147|PMID:23154293	20170921	RGD			
13432153	Lepr<sup>fa</sup>	leptin receptor; fa mutant	gene	DOID:9352	type 2 diabetes mellitus		IAGP		D	RGD:13432147|PMID:23154293	20170921	RGD			
13432153	Lepr<sup>fa</sup>	leptin receptor; fa mutant	gene	DOID:9352	type 2 diabetes mellitus		IAGP		D	RGD:1599258|PMID:16772326	20250918	RGD		compared to Het lean littermates	
13432153	Lepr<sup>fa</sup>	leptin receptor; fa mutant	gene	DOID:9970	obesity		IAGP		D	RGD:628581|PMID:11500530	20201210	RGD		compared to heterozygous controls +/fa	
13432153	Lepr<sup>fa</sup>	leptin receptor; fa mutant	gene	DOID:9970	obesity		IAGP		D	RGD:628910|PMID:9843879	20201210	RGD		compared to age-matched lean +/fa rats	
13432153	Lepr<sup>fa</sup>	leptin receptor; fa mutant	gene	DOID:9970	obesity		IAGP		D	RGD:7365117|PMID:20159938	20260604	RGD			
13437612	SS-<i>Adamts16<sup>em1Bj</sup></i>		strain	DOID:10763	hypertension		IMP		D	RGD:9685162|PMID:23185005	20171010	RGD			
13437612	SS-<i>Adamts16<sup>em1Bj</sup></i>		strain	DOID:11383	cryptorchidism	MODEL: spontaneous	IMP		D	RGD:13434925|PMID:24983376	20171010	RGD			
13437612	SS-<i>Adamts16<sup>em1Bj</sup></i>		strain	DOID:11383	cryptorchidism	MODEL: spontaneous	IMP		D	RGD:38548917|PMID:32037220	20200821	RGD			
13437612	SS-<i>Adamts16<sup>em1Bj</sup></i>		strain	DOID:12336	male infertility	MODEL: spontaneous	IMP		D	RGD:13434925|PMID:24983376	20171010	RGD			
13437612	SS-<i>Adamts16<sup>em1Bj</sup></i>		strain	DOID:12336	male infertility	MODEL: spontaneous	IMP		D	RGD:38548917|PMID:32037220	20200821	RGD			
13437613	Adamts16<sup>em1Bj</sup>	ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj	gene	DOID:10763	hypertension		IMP		D	RGD:9685162|PMID:23185005	20171010	RGD			
13437613	Adamts16<sup>em1Bj</sup>	ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj	gene	DOID:11383	cryptorchidism		IMP		D	RGD:13434925|PMID:24983376	20171010	RGD			
13437613	Adamts16<sup>em1Bj</sup>	ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj	gene	DOID:11383	cryptorchidism		IMP		D	RGD:38548917|PMID:32037220	20201210	RGD			
13437613	Adamts16<sup>em1Bj</sup>	ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj	gene	DOID:12336	male infertility		IMP		D	RGD:13434925|PMID:24983376	20171010	RGD			
13437613	Adamts16<sup>em1Bj</sup>	ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj	gene	DOID:12336	male infertility		IMP		D	RGD:38548917|PMID:32037220	20201210	RGD			
13441560	SD-<i>Galt<sup>em3Mcwi-/-</sup></i>		strain	DOID:0111459	classic galactosemia		IMP		D	RGD:632518410|PMID:31845342	20260408	RGD			
13441560	SD-<i>Galt<sup>em3Mcwi-/-</sup></i>		strain	DOID:0111459	classic galactosemia	treatment	IMP	XCO:0001791	D	RGD:632518416|PMID:41239942	20260408	RGD			
13441560	SD-<i>Galt<sup>em3Mcwi-/-</sup></i>		strain	DOID:83	cataract		IMP		D	RGD:632518410|PMID:31845342	20260408	RGD		associated with classic galactosemia;	
13441563	Galt<sup>em3Mcwi</sup>	galactose-1-phosphate uridylyltransferase; CRISPR/Cas9 induced mutant 3, Mcwi	gene	DOID:0111459	classic galactosemia		IMP		D	RGD:632518410|PMID:31845342	20260409	RGD			
13441563	Galt<sup>em3Mcwi</sup>	galactose-1-phosphate uridylyltransferase; CRISPR/Cas9 induced mutant 3, Mcwi	gene	DOID:0111459	classic galactosemia	treatment	IMP	XCO:0001791	D	RGD:632518416|PMID:41239942	20260409	RGD			
13441563	Galt<sup>em3Mcwi</sup>	galactose-1-phosphate uridylyltransferase; CRISPR/Cas9 induced mutant 3, Mcwi	gene	DOID:83	cataract		IMP		D	RGD:632518410|PMID:31845342	20260409	RGD		associated with classic galactosemia;	
13450922	SD-<i>GEPR-3</i>		strain	DOID:2548	reflex epilepsy	induces	IAGP	XCO:0000048	D	RGD:13450923|PMID:29105300	20171108	RGD			
13450922	SD-<i>GEPR-3</i>		strain	DOID:7725	epilepsy with generalized tonic-clonic seizures	induces	IAGP	XCO:0000048	D	RGD:13450923|PMID:29105300	20200622	RGD			
13451132	BN-<i>Crb1<sup>m1</sup></i>		strain	DOID:9007488	Idiopathic Juxtafoveal Retinal Telangiectasia		IAGP		D	RGD:13451131|PMID:25878282	20171115	RGD			
13451133	Crb1<sup>m1</sup>	crumbs 1, cell polarity complex component, mutant 1	gene	DOID:9007488	Idiopathic Juxtafoveal Retinal Telangiectasia		IAGP		D	RGD:13451131|PMID:25878282	20171115	RGD			
13452382	SD-Tg(Htt<sup>*</sup>)/SvhZtm		strain	DOID:12858	Huntington's disease	MODEL: spontaneous	IMP		D	RGD:13452381|PMID:12620967	20171117	RGD			
13464319	Hcn1<sup>A354V</sup>	hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; A354V mutant	gene	DOID:9000495	Tremor		IAGP		D	RGD:11060746|PMID:25970616	20180103	RGD			
13464320	STOCK <i>Aspa<sup>em34Kyo</sup>  Hcn1<sup>A354V</sup></i>/Kyo		strain	DOID:9000495	Tremor		IMP		D	RGD:13464274|PMID:27026062	20180103	RGD			
13464329	FPL/Iet	Fused pulmonary lobes, FPL	strain	DOID:0111407	Fraser syndrome 2		IAGP		D	RGD:126781714|PMID:23336369	20210416	RGD			
13464330	Frem2<sup>fpl</sup>	Fras1 related extracellular matrix protein 2;fpl mutant	gene	DOID:0111407	Fraser syndrome 2		IAGP		D	RGD:126781714|PMID:23336369	20231005	RGD			
13464330	Frem2<sup>fpl</sup>	Fras1 related extracellular matrix protein 2;fpl mutant	gene	DOID:0111407	Fraser syndrome 2		IAGP		D	RGD:13464328|PMID:21756877	20180103	RGD			
13506737	GK		strain	DOID:9002188	Hypoinsulinemia		IAGP		D	RGD:631853|PMID:12783625	20191126	RGD			
13506737	GK		strain	DOID:9003139	Cardiac Fibrosis		IAGP		D	RGD:631853|PMID:12783625	20191126	RGD			
13506737	GK		strain	DOID:9003936	Cardiomegaly		IAGP		D	RGD:631853|PMID:12783625	20191126	RGD			
13506737	GK		strain	DOID:9351	diabetes mellitus		IAGP		D	RGD:13513908|PMID:25903955	20191126	RGD			
13506737	GK		strain	DOID:9351	diabetes mellitus		IAGP		D	RGD:631853|PMID:12783625	20191126	RGD			
13506738	GK/Par		strain	DOID:9352	type 2 diabetes mellitus	susceptibility	IAGP		D	RGD:13506736|PMID:2010050	20180209	RGD		compared to Wistar	
13506739	GK/Jcl		strain	DOID:9351	diabetes mellitus		IAGP		D	RGD:13506789|PMID:26447526	20191126	RGD			
13506739	GK/Jcl		strain	DOID:9351	diabetes mellitus		IAGP		D	RGD:13592596|PMID:19966469	20191126	RGD			
13508588	WI	Wistar rat	strain	DOID:9352	type 2 diabetes mellitus	MODEL: control	IAGP		D	RGD:13506736|PMID:2010050	20200318	RGD		compared to GK/Par	
13513909	SD-Tg(Ren2)27<sup>-/-</sup>		strain	DOID:10763	hypertension	MODEL: control	IMP		D	RGD:13513906|PMID:16882881	20200214	RGD		compared to  SD-Tg(Ren2)27+/-	
13513909	SD-Tg(Ren2)27<sup>-/-</sup>		strain	DOID:9004616	Left Ventricular Hypertrophy	MODEL: control	IMP		D	RGD:13513906|PMID:16882881	20200228	RGD		compared to SD-Tg(Ren2)27+/- strain	
13524863	LEC/Crlj	Long Evans Cinnamon	strain	DOID:3753	Hermansky-Pudlak syndrome		IAGP		D	RGD:2324690|PMID:19897744	20180501	RGD			
13524998	UPL		strain	DOID:10629	microphthalmia		IAGP		D	RGD:727242|PMID:8282038	20180502	RGD			
13524998	UPL		strain	DOID:83	cataract		IAGP		D	RGD:727242|PMID:8282038	20180502	RGD			
13524999	Gja8<sup>m1Cas</sup>	gap junction protein, alpha 8; mutant 1 Cas	gene	DOID:83	cataract		IAGP		D	RGD:629571|PMID:12356818	20180502	RGD			
13525002	Gunn rats		strain	DOID:2383	neonatal jaundice	treatment	IAGP		D	RGD:150520175|PMID:8900123	20211101	RGD		compared to control rats	
13525002	Gunn rats		strain	DOID:2741	bilirubin metabolic disorder	treatment	IAGP		D	RGD:150520175|PMID:8900123	20211101	RGD		compared to control rats	
13525002	Gunn rats		strain	DOID:2741	bilirubin metabolic disorder	treatment	IAGP		D	RGD:401900658|PMID:10781892	20231114	RGD			
13525002	Gunn rats		strain	DOID:9004898	Jaundice	MODEL: spontaneous	IAGP		D	RGD:11576308|PMID:8502229	20231108	RGD			
1354580	Scort1	Serum corticosterone level QTL 1	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354581	Bp247	Blood pressure QTL 247	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354582	Stl11	Serum triglyceride level QTL 11	qtl	DOID:9006599	Hypertriglyceridemia		IAGP		D	RGD:737686|PMID:14724732	19990101	RGD			
1354583	Despr3	Despair related QTL3	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354584	Despr6	Despair related QTL 6	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354585	Eae18a	Experimental allergic encephalomyelitis QTL 18a	qtl	DOID:2377	multiple sclerosis		QTM		D	RGD:1302437|PMID:15240732	19990101	RGD			
1354585	Eae18a	Experimental allergic encephalomyelitis QTL 18a	qtl	DOID:9002763	Experimental Autoimmune Encephalomyelitis		QTM		D	RGD:1302437|PMID:15240732	19990101	RGD			
1354586	Despr1	Despair related QTL 1	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354587	Kidm21	Kidney mass QTL 21	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354588	Bvd4	Brain ventricular dilatation QTL 4	qtl	DOID:10908	hydrocephalus		QTM		D	RGD:1302890|PMID:15473982	19990101	RGD			
1354589	Bw31	Body weight QTL 31	qtl	DOID:9970	obesity		IDA		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354590	Despr11	Despair related QTL 11	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354591	Cm36	Cardiac mass QTL 36	qtl	DOID:9004616	Left Ventricular Hypertrophy		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354591	Cm36	Cardiac mass QTL 36	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354592	Rf50	Renal function QTL 50	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354593	Stl12	Serum triglyceride level QTL 12	qtl	DOID:9006599	Hypertriglyceridemia		IAGP		D	RGD:737686|PMID:14724732	19990101	RGD			
1354594	Despr10	Despair related QTL 10	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354595	Despr4	Despair related QTL 4	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354596	Bw32	Body weight QTL 32	qtl	DOID:9970	obesity		IDA		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354597	Kidm13	Kidney mass QTL 13	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354598	Srn6	Serum renin concentration QTL 6	qtl	DOID:1287	cardiovascular system disease		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354598	Srn6	Serum renin concentration QTL 6	qtl	DOID:557	kidney disease		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354598	Srn6	Serum renin concentration QTL 6	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354599	Bw29	Body weight QTL 29	qtl	DOID:9008622	Adrenal Insufficiency		IAGP		D	RGD:1302889|PMID:15252022	19990101	RGD			
1354600	Salc2	Saline consumption QTL 2	qtl	DOID:9008622	Adrenal Insufficiency		IAGP		D	RGD:1302889|PMID:15252022	19990101	RGD			
1354601	Slep1	Serum leptin concentration QTL 1	qtl	DOID:9970	obesity		IDA		D	RGD:737686|PMID:14724732	19990101	RGD			
1354602	Bw35	Body weight QTL 35	qtl	DOID:9970	obesity		IDA		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354603	Bp243	Blood pressure QTL 243	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354603	Bp243	Blood pressure QTL 243	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354604	Bw36	Body weight QTL 36	qtl	DOID:9970	obesity		IDA		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354605	Rf48	Renal function QTL 48	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354606	Bp246	Blood pressure QTL 246	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354607	Gmadr1	Adrenal mass QTL 1	qtl	DOID:9008622	Adrenal Insufficiency		IAGP		D	RGD:1302889|PMID:15252022	19990101	RGD			
1354607	Gmadr1	Adrenal mass QTL 1	qtl	DOID:9553	adrenal gland disease		IAGP		D	RGD:1302889|PMID:15252022	19990101	RGD			
1354608	Cm33	Cardiac mass QTL 33	qtl	DOID:9004616	Left Ventricular Hypertrophy		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354608	Cm33	Cardiac mass QTL 33	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354609	Niddm62	Non-insulin dependent diabetes mellitus QTL 62	qtl	DOID:2018	hyperinsulinism		IAGP		D	RGD:1302801|PMID:15266047	19990101	RGD			
1354609	Niddm62	Non-insulin dependent diabetes mellitus QTL 62	qtl	DOID:9352	type 2 diabetes mellitus		IAGP		D	RGD:1302801|PMID:15266047	19990101	RGD			
1354610	Bw34	Body weight QTL 34	qtl	DOID:9970	obesity		IDA		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354611	Despr2	Despair related QTL 2	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354612	Foco1	Food consumption QTL 1	qtl	DOID:9008622	Adrenal Insufficiency		IAGP		D	RGD:1302889|PMID:15252022	19990101	RGD			
1354613	Kidm14	Kidney mass QTL 14	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354615	Cm32	Cardiac mass QTL 32	qtl	DOID:9004616	Left Ventricular Hypertrophy		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354615	Cm32	Cardiac mass QTL 32	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354616	Despr12	Despair related QTL 12	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354617	Bp240	Blood pressure QTL 240	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354617	Bp240	Blood pressure QTL 240	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354618	Kidm15	Kidney mass QTL 15	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354619	Bp242	Blood pressure QTL 242	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354619	Bp242	Blood pressure QTL 242	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354620	Kidm19	Kidney mass QTL 19	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354621	Rf47	Renal function QTL 47	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354622	Kidm16	Kidney mass QTL 16	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354623	Rf46	Renal function QTL 46	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354624	Cm35	Cardiac mass QTL35	qtl	DOID:9004616	Left Ventricular Hypertrophy		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354624	Cm35	Cardiac mass QTL35	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354625	Despr7	Despair related QTL 7	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354626	Bvd1	Brain ventricular dilatation QTL 1	qtl	DOID:10908	hydrocephalus		QTM		D	RGD:1302890|PMID:15473982	19990101	RGD			
1354627	Despr14	Despair related QTL 14	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354628	Stl13	Serum triglyceride level QTL 13	qtl	DOID:9000808	Hypercholesterolemia		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354628	Stl13	Serum triglyceride level QTL 13	qtl	DOID:9006599	Hypertriglyceridemia		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354628	Stl13	Serum triglyceride level QTL 13	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354629	Scl31	Serum cholesterol level QTL 31	qtl	DOID:9000808	Hypercholesterolemia		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354629	Scl31	Serum cholesterol level QTL 31	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354630	Cm34	Cardiac mass QTL 34	qtl	DOID:9004616	Left Ventricular Hypertrophy		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354630	Cm34	Cardiac mass QTL 34	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354631	Swd2	Spike wave discharge measurement QTL 2	qtl	DOID:1825	childhood absence epilepsy		QTM		D	RGD:1302436|PMID:15270755	19990101	RGD			
1354632	Scl29	Serum cholesterol level QTL 29	qtl	DOID:9000808	Hypercholesterolemia		IAGP		D	RGD:737686|PMID:14724732	19990101	RGD			
1354633	Bw28	Body weight QTL 28	qtl	DOID:9008622	Adrenal Insufficiency		IAGP		D	RGD:1302889|PMID:15252022	19990101	RGD			
1354634	Kidm12	Kidney mass QTL 12	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354635	Bp245	Blood pressure QTL 245	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354635	Bp245	Blood pressure QTL 245	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354637	Scl30	Serum cholesterol level QTL 30	qtl	DOID:9000808	Hypercholesterolemia		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354637	Scl30	Serum cholesterol level QTL 30	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354638	Insul1	Insulin level QTL 1	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354639	Spl5	Serum phospholipid level QTL 5	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354640	Scl32	Serum cholesterol level QTL 32	qtl	DOID:9000808	Hypercholesterolemia		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354640	Scl32	Serum cholesterol level QTL 32	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354641	Bvd2	Brain ventricular dilatation QTL 2	qtl	DOID:10908	hydrocephalus		QTM		D	RGD:1302890|PMID:15473982	19990101	RGD			
1354642	Despr15	Despair related QTL 15	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354643	Foco2	Food consumption QTL 2	qtl	DOID:9008622	Adrenal Insufficiency		IAGP		D	RGD:1302889|PMID:15252022	19990101	RGD			
1354644	Spl4	Serum phospholipid level QTL 4	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354645	Swd1	Spike wave discharge measurement QTL 1	qtl	DOID:1825	childhood absence epilepsy		QTM		D	RGD:1302436|PMID:15270755	19990101	RGD			
1354646	Kidm18	Kidney mass QTL 18	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354647	Despr8	Despair related QTL 8	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354648	Bp239	Blood pressure QTL 239	qtl	DOID:10763	hypertension		IAGP		D	RGD:629612|PMID:9260980	19990101	RGD			
1354649	Kidm17	Kidney mass QTL 17	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354650	Despr5	Despair related QTL 5	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354652	Kidm20	Kidney mass QTL 20	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354653	Despr9	Despair related QTL 9	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354654	Spl7	Serum phospholipid level QTL 7	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354655	Bp241	Blood pressure QTL 241	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354655	Bp241	Blood pressure QTL 241	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354656	Bvd3	Brain ventricular dilatation QTL 3	qtl	DOID:10908	hydrocephalus		QTM		D	RGD:1302890|PMID:15473982	19990101	RGD			
1354657	Despr13	Despair related QTL 13	qtl	DOID:1596	depressive disorder		IAGP		D	RGD:1302894|PMID:15457344	19990101	RGD			
1354658	Spl8	Serum phospholipid level QTL 8	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354659	Scl68	Serum cholesterol level QTL 68	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354660	Salc1	Saline consumption QTL 1	qtl	DOID:9008622	Adrenal Insufficiency		IAGP		D	RGD:1302889|PMID:15252022	19990101	RGD			
1354661	Bw33	Body weight QTL 33	qtl	DOID:9970	obesity		IDA		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354662	Rf49	Renal function QTL 49	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354663	Bvd5	Brain ventricular dilatation QTL 5	qtl	DOID:10908	hydrocephalus		QTM		D	RGD:1302890|PMID:15473982	19990101	RGD			
1354664	Slep2	Serum leptin concentration QTL 2	qtl	DOID:9970	obesity		IDA		D	RGD:737686|PMID:14724732	19990101	RGD			
1354665	Stl10	Serum triglyceride level QTL 10	qtl	DOID:9006599	Hypertriglyceridemia		IAGP		D	RGD:737686|PMID:14724732	19990101	RGD			
1354666	Bp244	Blood pressure QTL 244	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1354666	Bp244	Blood pressure QTL 244	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1302893|PMID:15452030	19990101	RGD			
1357172	WF.BBDR-(<i>D4Arb29-D4Rat44</i>)/Wor		strain	DOID:9744	type 1 diabetes mellitus	penetrance	IAGP	XCO:0000231,XCO:0000235	D	RGD:1304485|PMID:12401717	19990101	RGD			
1357177	F344.DR(DP)-(<i>D4Mit6-D4Mit24</i>)/Rhw		strain	DOID:614	lymphopenia		IAGP		D	RGD:1303385|PMID:14624755	19990101	RGD			
1357178	CD	Cohen diabetic rat	strain	DOID:10763	hypertension	MODEL: control	IAGP		D	RGD:1354689|PMID:14643580	20200129	RGD		compared to CRDH strain	
1357178	CD	Cohen diabetic rat	strain	DOID:10763	hypertension	treatment	IAGP	XCO:0000212,XCO:0000211,XCO:0000658	D	RGD:1354518|PMID:8467325	19990101	RGD			
1357178	CD	Cohen diabetic rat	strain	DOID:10787	premature menopause	susceptibility	IAGP	XCO:0000094	D	RGD:1354519|PMID:6365715	20200129	RGD			
1357178	CD	Cohen diabetic rat	strain	DOID:10787	premature menopause	treatment	IAGP	XCO:0000092	D	RGD:1354519|PMID:6365715	20201117	RGD			
1357178	CD	Cohen diabetic rat	strain	DOID:1312	focal segmental glomerulosclerosis		IAGP	XCO:0000212,XCO:0000211	D	RGD:1354520	19990101	RGD			
1357178	CD	Cohen diabetic rat	strain	DOID:1312	focal segmental glomerulosclerosis	MODEL: induced	IAGP	XCO:0000212,XCO:0000211	D	RGD:18937003|PMID:2134214	20200129	RGD		compared to normal diet CD	
1357178	CD	Cohen diabetic rat	strain	DOID:1591	renovascular hypertension	MODEL: induced	IAGP	XCO:0000212,XCO:0000211,XCO:0000662	D	RGD:1354518|PMID:8467325	20200129	RGD			
1357178	CD	Cohen diabetic rat	strain	DOID:1591	renovascular hypertension	MODEL: induced	IAGP	XCO:0000212,XCO:0000211,XCO:0000662	D	RGD:1354520	20200129	RGD			
1357178	CD	Cohen diabetic rat	strain	DOID:1591	renovascular hypertension	treatment	IAGP	XCO:0000658	D	RGD:1354518|PMID:8467325	20200402	RGD			
1357178	CD	Cohen diabetic rat	strain	DOID:4195	hyperglycemia		IAGP	XCO:0000212,XCO:0000211	D	RGD:1354520	19990101	RGD			
1357178	CD	Cohen diabetic rat	strain	DOID:4195	hyperglycemia	MODEL: induced	IAGP	XCO:0000212,XCO:0000211	D	RGD:18937003|PMID:2134214	20200129	RGD		compared to normal diet CD	
1357178	CD	Cohen diabetic rat	strain	DOID:9352	type 2 diabetes mellitus	MODEL: induced	IAGP	XCO:0000212,XCO:0000211	D	RGD:1354520	19990101	RGD			
1357181	CDR/Ygl		strain	DOID:9005643	Experimental Diabetes Mellitus	MODEL: control	IAGP	XCO:0000452|XCO:0000212|XCO:0000211	D	RGD:1626640|PMID:17213368	20070816	RGD		compared to CDS/Ygl, on diabetogenic diet	
1357181	CDR/Ygl		strain	DOID:9351	diabetes mellitus	MODEL: control	IAGP	XCO:0000452|XCO:0000212|XCO:0000211	D	RGD:1626640|PMID:17213368	20200131	RGD		compared to CDS/Ygl	
1357184	Crl:ZUC-<I>Lepr</I><sup>fa</sup>	Zucker rats	strain	DOID:9352	type 2 diabetes mellitus		IAGP		D	RGD:1354693|PMID:15319354	19990101	RGD			
1357186	Gunn-<i>Ugt1a1</i><sup>j</sup>/BluHsd	Gunn rat	strain	DOID:2741	bilirubin metabolic disorder		IAGP		D	RGD:1354702|PMID:15753292	19990101	RGD			
1357186	Gunn-<i>Ugt1a1</i><sup>j</sup>/BluHsd	Gunn rat	strain	DOID:9004898	Jaundice		IAGP		D	RGD:1354701|PMID:20323028	19990101	RGD			
1357186	Gunn-<i>Ugt1a1</i><sup>j</sup>/BluHsd	Gunn rat	strain	DOID:9005274	Polyuria		IAGP		D	RGD:1354701|PMID:20323028	20200414	RGD			
1357189	SS.LEW-(<I>D8Rat56-D8Rat51</I>)/Ayd		strain	DOID:10763	hypertension	induces	IAGP	XCO:0000022	D	RGD:7421500|PMID:23814039	20131211	RGD			
1357191	CDS/Ygl	Cohen diabetic-sensitive rat	strain	DOID:9002165	Diabetic Nephropathies		IAGP		D	RGD:8552897|PMID:24192394	20140523	RGD			
1357191	CDS/Ygl	Cohen diabetic-sensitive rat	strain	DOID:9005643	Experimental Diabetes Mellitus	severity	IAGP	XCO:0000014	D	RGD:8552897|PMID:24192394	20200131	RGD		sexual dimorphism	
1357191	CDS/Ygl	Cohen diabetic-sensitive rat	strain	DOID:9005643	Experimental Diabetes Mellitus	severity	IAGP	XCO:0000452|XCO:0000212|XCO:0000211	D	RGD:1626640|PMID:17213368	20070816	RGD		compared to CDR/Ygl, on diabetogenic diet	
1357191	CDS/Ygl	Cohen diabetic-sensitive rat	strain	DOID:9351	diabetes mellitus	MODEL: induced	IAGP	XCO:0000014	D	RGD:8552897|PMID:24192394	20200131	RGD		compared to SBN/Ygl	
1357191	CDS/Ygl	Cohen diabetic-sensitive rat	strain	DOID:9351	diabetes mellitus	MODEL: induced	IAGP	XCO:0000452|XCO:0000212|XCO:0000211	D	RGD:1626640|PMID:17213368	20200131	RGD		compared to CDR/Ygl	
1357192	WF.BBDR-(<i>D4Got39-D4Rat44</i>)/Wor		strain	DOID:9744	type 1 diabetes mellitus	penetrance	IAGP	XCO:0000231,XCO:0000235	D	RGD:1304485|PMID:12401717	19990101	RGD			
1357194	WF.BBDR-(<i>D4Rat96-D4Rat44</i>)/Wor		strain	DOID:9744	type 1 diabetes mellitus	penetrance	IAGP	XCO:0000231,XCO:0000235	D	RGD:1304485|PMID:12401717	19990101	RGD			
1357194	WF.BBDR-(<i>D4Rat96-D4Rat44</i>)/Wor		strain	DOID:9744	type 1 diabetes mellitus	penetrance	IAGP	XCO:0000231,XCO:0000235	D	RGD:1600776|PMID:17376830	20200225	RGD			
1357196	WF.BBDR-(<i>D4Arb29-D4Rat265</i>)/Wor		strain	DOID:9744	type 1 diabetes mellitus	penetrance	IAGP	XCO:0000231,XCO:0000235	D	RGD:1304485|PMID:12401717	19990101	RGD			
1357335	Bw39	Body weight QTL 39	qtl	DOID:9970	obesity		IDA		D	RGD:69707|PMID:9530522	19990101	RGD			
1357336	Gluco6	Glucose level QTL 6	qtl	DOID:10603	glucose intolerance		IAGP		D	RGD:619533|PMID:12016513	19990101	RGD			
1357336	Gluco6	Glucose level QTL 6	qtl	DOID:9007692	Insulin Resistance		IAGP		D	RGD:619533|PMID:12016513	19990101	RGD			
1357337	Gluco3	Glucose level QTL 3	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:61078|PMID:9171835	19990101	RGD			
1357337	Gluco3	Glucose level QTL 3	qtl	DOID:9352	type 2 diabetes mellitus		IAGP		D	RGD:61078|PMID:9171835	19990101	RGD			
1357338	Stl17	Serum triglyceride level QTL 17	qtl	DOID:1168	familial hyperlipidemia		IAGP		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357339	Stl14	Serum triglyceride level QTL 14	qtl	DOID:9006599	Hypertriglyceridemia		IAGP		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357339	Stl14	Serum triglyceride level QTL 14	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357340	Bp250	Blood pressure QTL 250	qtl	DOID:10763	hypertension		IAGP		D	RGD:619625|PMID:9607182	19990101	RGD			
1357341	Gluco5	Glucose level QTL 5	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:61078|PMID:9171835	19990101	RGD			
1357341	Gluco5	Glucose level QTL 5	qtl	DOID:9352	type 2 diabetes mellitus		IAGP		D	RGD:61078|PMID:9171835	19990101	RGD			
1357342	Bw40	Body weight QTL 40	qtl	DOID:9970	obesity		IDA		D	RGD:69707|PMID:9530522	19990101	RGD			
1357343	Gluco4	Glucose level QTL 4	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:61078|PMID:9171835	19990101	RGD			
1357343	Gluco4	Glucose level QTL 4	qtl	DOID:9352	type 2 diabetes mellitus		IAGP		D	RGD:61078|PMID:9171835	19990101	RGD			
1357344	Bp249	Blood pressure QTL 249	qtl	DOID:10763	hypertension		IAGP		D	RGD:619626|PMID:9096100	19990101	RGD			
1357396	Bw44	Body weight QTL 44	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357396	Bw44	Body weight QTL 44	qtl	DOID:9970	obesity		IDA		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357397	Bw41	Body weight QTL 41	qtl	DOID:9970	obesity		IDA		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357398	Slep3	Serum leptin concentration QTL 3	qtl	DOID:9970	obesity		IDA		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357399	Bw45	Body weight QTL 45	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357399	Bw45	Body weight QTL 45	qtl	DOID:9970	obesity		IDA		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357400	Bw62	Body weight QTL62	qtl	DOID:9970	obesity		IDA		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357401	Bw43	Body weight QTL 43	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357401	Bw43	Body weight QTL 43	qtl	DOID:9970	obesity		IDA		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357402	Bw46	Body weight QTL 46	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357402	Bw46	Body weight QTL 46	qtl	DOID:9970	obesity		IDA		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357403	Slep4	Serum leptin concentration QTL 4	qtl	DOID:9970	obesity		IDA		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357404	Bw42	Body weight QTL 42	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357404	Bw42	Body weight QTL 42	qtl	DOID:9970	obesity		IDA		D	RGD:1357168|PMID:11374884	19990101	RGD			
1357959	FHH.BN-(<i>D1Hmgc14-D1Hmgc15</i>)/Mcwi		strain	DOID:576	proteinuria		IAGP		D	RGD:1357409|PMID:15758045	19990101	RGD		compared to BN	
1357959	FHH.BN-(<i>D1Hmgc14-D1Hmgc15</i>)/Mcwi		strain	DOID:9001542	Albuminuria		IAGP		D	RGD:1357409|PMID:15758045	19990101	RGD		compared to BN	
1357980	BB.SHR-(<i>D4Got41-Tacr1</i>)/K		strain	DOID:14221	abdominal obesity-metabolic syndrome 1		IAGP		D	RGD:1334440|PMID:15173549	19990101	RGD		compared to BB.SHR-(D4Got41-D4Rat171)/K and BB.SHR-(D4Got41-Gimap5)/K	
1357990	Ael1	Aortic elastin QTL 1	qtl	DOID:1287	cardiovascular system disease		IAGP		D	RGD:1334448|PMID:15668357	19990101	RGD			
1357991	Ael2	Aortic elastin QTL 2	qtl	DOID:1287	cardiovascular system disease		IAGP		D	RGD:1334448|PMID:15668357	19990101	RGD			
1358112	WKY/NCrl		strain	DOID:10763	hypertension	MODEL: control	IAGP		D	RGD:27095952|PMID:17551266	20200831	RGD		compared to SHRSP/A3NCrl	
1358112	WKY/NCrl		strain	DOID:2921	glomerulonephritis	susceptibility	IAGP	XCO:0000255	D	RGD:2293335|PMID:16482158	20080528	RGD		compared to LEW, BN	
1358112	WKY/NCrl		strain	DOID:576	proteinuria	MODEL: induced	IAGP		D	RGD:2312387|PMID:19448344	20090812	RGD		induced by anti-GBM monoclonal antibody, compared to DA/Slc	
1358112	WKY/NCrl		strain	DOID:9008067	Toxemia	induces	IAGP	XCO:0000240	D	RGD:40924657|PMID:20502689	20210601	RGD		associated with anthrax disease	
1358153	COP/CrCrl		strain	DOID:12700	hyperprolactinemia	induces	IAGP	XCO:0000092	D	RGD:1358963|PMID:10688907	20200327	RGD			
1358153	COP/CrCrl		strain	DOID:9002221	Hyperplasia	induces	IAGP	XCO:0000092	D	RGD:1358963|PMID:10688907	20200327	RGD		lobuloalveolar hyperplasia	
1358153	COP/CrCrl		strain	DOID:9002234	Pituitary Neoplasms	induces	IAGP	XCO:0000295	D	RGD:1358974|PMID:10342874	20200313	RGD			
1358153	COP/CrCrl		strain	DOID:9008939	Breast Neoplasms	MODEL: control	IAGP	XCO:0000092	D	RGD:2292503|PMID:18420736	20200710	RGD			
1358162	SS-Chr 12<sup>BN</sup>/Mcwi		strain	DOID:10763	hypertension	MODEL: control	IAGP	XCO:0000022	D	RGD:8693701|PMID:25001272	20210118	RGD		compared to congenics with SS Chr12 alleles	
1358162	SS-Chr 12<sup>BN</sup>/Mcwi		strain	DOID:9001542	Albuminuria	MODEL: control	IAGP	XCO:0000022	D	RGD:8693701|PMID:25001272	20210118	RGD		compared to congenics with SS Chr12 alleles	
1358162	SS-Chr 12<sup>BN</sup>/Mcwi		strain	DOID:9001542	Albuminuria	induces	IAGP	XCO:0000022	D	RGD:2300225|PMID:18653478	20080910	RGD		compared to SS/JrHsdMcwi	
1358162	SS-Chr 12<sup>BN</sup>/Mcwi		strain	DOID:9005233	Experimental Mammary Neoplasms	induces	IAGP	XCO:0000090	D	RGD:2301186|PMID:18786441	20081119	RGD			
1358171	SS-Chr 17<sup>BN</sup>/Mcwi		strain	DOID:9001542	Albuminuria	induces	IAGP	XCO:0000022	D	RGD:2300225|PMID:18653478	20080910	RGD		compared to SS/JrHsdMcwi	
1358177	SS.MNS-(<i>D2Chm25-D2Mit14</i>)/Ayd		strain	DOID:9006024	Hypotension	MODEL: induced	IAGP	XCO:0000022	D	RGD:7421631|PMID:19461651	20131206	RGD		compared to parental SS/Jr	
1358178	SS-Chr 10<sup>BN</sup>/Mcwi		strain	DOID:9005233	Experimental Mammary Neoplasms	induces	IAGP	XCO:0000090	D	RGD:2301186|PMID:18786441	20081119	RGD			
1358185	Ept6	Estrogen-induced pituitary tumorigenesis QTL 6	qtl	DOID:9002234	Pituitary Neoplasms		IAGP		D	RGD:1334449|PMID:15687265	19990101	RGD			
1358186	Ept2	Estrogen-induced pituitary tumorigenesis QTL 2	qtl	DOID:9002234	Pituitary Neoplasms		IAGP		D	RGD:1334449|PMID:15687265	19990101	RGD			
1358187	Emca1	Estrogen-induced mammary cancer QTL 1	qtl	DOID:9005233	Experimental Mammary Neoplasms		IDA		D	RGD:1358124|PMID:15611180	19990101	RGD			
1358188	Ept9	Estrogen-induced pituitary tumorigenesis QTL 9	qtl	DOID:9002234	Pituitary Neoplasms		IAGP		D	RGD:1334449|PMID:15687265	19990101	RGD			
1358189	Cstrr1	Cold stress response QTL 1	qtl	DOID:10763	hypertension		IAGP		D	RGD:1302892|PMID:15480093	19990101	RGD			
1358189	Cstrr1	Cold stress response QTL 1	qtl	DOID:11465	autonomic nervous system disease		IAGP		D	RGD:1302892|PMID:15480093	19990101	RGD			
1358190	Ept1	Estrogen-induced pituitary tumorigenesis QTL 1	qtl	DOID:9002234	Pituitary Neoplasms		IAGP		D	RGD:1334449|PMID:15687265	19990101	RGD			
1358191	Ept10	Estrogen-induced pituitary tumorigenesis QTL 10	qtl	DOID:9002234	Pituitary Neoplasms		IAGP		D	RGD:1334449|PMID:15687265	19990101	RGD			
1358192	Ept13	Estrogen-induced pituitary tumorigenesis QTL 13	qtl	DOID:9002234	Pituitary Neoplasms		IAGP		D	RGD:1334449|PMID:15687265	19990101	RGD			
1358193	Emca2	Estrogen-induced mammary cancer QTL 2	qtl	DOID:9005233	Experimental Mammary Neoplasms		IDA		D	RGD:1358124|PMID:15611180	20120905	RGD			
1358200	Insglur2	Insulin/glucose ratio QTL 2	qtl	DOID:9007692	Insulin Resistance		IAGP		D	RGD:619533|PMID:12016513	19990101	RGD			
1358201	Gluco12	Glucose level QTL12	qtl	DOID:9007692	Insulin Resistance		IAGP		D	RGD:1357415|PMID:15752738	19990101	RGD			
1358202	Gluco11	Glucose level QTL 11	qtl	DOID:9007692	Insulin Resistance		IAGP		D	RGD:1357415|PMID:15752738	19990101	RGD			
1358203	Stl19	Serum triglyceride level QTL 19	qtl	DOID:9006599	Hypertriglyceridemia		IAGP		D	RGD:1357415|PMID:15752738	19990101	RGD			
1358203	Stl19	Serum triglyceride level QTL 19	qtl	DOID:9006646	Metabolic Syndrome		IAGP		D	RGD:1357415|PMID:15752738	19990101	RGD			
1358204	Insglur1	Insulin/glucose ratio QTL 1	qtl	DOID:9007692	Insulin Resistance		IAGP		D	RGD:619533|PMID:12016513	19990101	RGD			
1358258	RCS/LavRrrc	royal college of surgeons rat	strain	DOID:8466	retinal degeneration		IAGP		D	RGD:632096|PMID:1164921	20200421	RGD			
1358292	Cm37	Cardiac mass QTL 37	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:1334448|PMID:15668357	19990101	RGD			
1358295	Aocep1	Aortic cell protein QTL 1	qtl	DOID:1287	cardiovascular system disease		IAGP		D	RGD:1334448|PMID:15668357	19990101	RGD			
1358296	Ael3	Aortic elastin QTL 3	qtl	DOID:1287	cardiovascular system disease		IAGP		D	RGD:1334448|PMID:15668357	19990101	RGD			
1358300	SD-Tg(Rho*P23H)3Lav		strain	DOID:8466	retinal degeneration	treatment	IMP		D	RGD:13208815|PMID:16822506	20170817	RGD			
1358302	SD-Tg(Rho*S334X)3Lav		strain	DOID:8466	retinal degeneration	MODEL: spontaneous	IMP		D	RGD:13208816|PMID:20127257	20170817	RGD		mouse transgene in rat model	
1358302	SD-Tg(Rho*S334X)3Lav		strain	DOID:8466	retinal degeneration	MODEL: spontaneous	IMP		D	RGD:13208818|PMID:21147100	20170817	RGD		mouse transgene in rat model	
1358303	SD-Tg(Rho*S334X)4Lav		strain	DOID:8466	retinal degeneration		IMP		D	RGD:12802340|PMID:22432009	20170817	RGD			
1358304	SD-Tg(Rho*S334X)5Lav		strain	DOID:8466	retinal degeneration	disease_progression	IMP		D	RGD:13208818|PMID:21147100	20170817	RGD		mouse transgene in rat model	
1358885	Bp251	Blood pressure QTL 251	qtl	DOID:10763	hypertension		QTM		D	RGD:1303389|PMID:12545249	19990101	RGD			
1358886	Bp260	Blood pressure QTL 260	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358887	Bw50	Body weight QTL 50	qtl	DOID:9970	obesity		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358888	Bp264	Blood pressure QTL 264	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358889	Bp261	Blood pressure QTL 261	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358890	Bp259	Blood pressure QTL 259	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358891	Bp265	Blood pressure QTL 265	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358892	Kidm26	Kidney mass QTL 26	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358893	Bp263	Blood pressure QTL 263	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358894	Kidm24	Kidney mass QTL 24	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358895	Bp254	Blood pressure QTL 254	qtl	DOID:10763	hypertension		QTM		D	RGD:1303389|PMID:12545249	19990101	RGD			
1358896	Bp262	Blood pressure QTL 262	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358898	Bp255	Blood pressure QTL 255	qtl	DOID:10763	hypertension		QTM		D	RGD:1303389|PMID:12545249	19990101	RGD			
1358899	Kidm23	Kidney mass QTL 23	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358900	Bw48	Body weight QTL 48	qtl	DOID:9970	obesity		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358901	Cm38	Cardiac mass QTL 38	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358902	Bw47	Body weight QTL 47	qtl	DOID:9970	obesity		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358903	Bp252	Blood pressure QTL 252	qtl	DOID:10763	hypertension		QTM		D	RGD:1303389|PMID:12545249	19990101	RGD			
1358904	Cm39	Cardiac mass QTL 39	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358905	Hrtrt17	Heart rate QTL 17	qtl	DOID:114	heart disease		IAGP		D	RGD:1358133|PMID:9286932	19990101	RGD			
1358906	Bp253	Blood pressure QTL 253	qtl	DOID:10763	hypertension		QTM		D	RGD:1303389|PMID:12545249	19990101	RGD			
1358907	Cm40	Cardiac mass QTL 40	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358908	Bw49	Body weight QTL 49	qtl	DOID:9970	obesity		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358909	Kidm25	Kidney mass QTL 25	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358910	Kidm27	Kidney mass QTL 27	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358911	Kidm28	Kidney mass QTL 28	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358912	Bw51	Body weight QTL 51	qtl	DOID:9970	obesity		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358913	Cm41	Cardiac mass QTL 41	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358914	Bp266	Blood pressure QTL 266	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358916	Kidm22	Kidney mass QTL 22	qtl	DOID:10763	hypertension		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358917	Cm42	Cardiac mass QTL 42	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:1303386|PMID:14640890	19990101	RGD			
1358918	W-<i>Plp1<sup>md</sup></i>/Nya	W-<i>Plp1</i><sup>md</sup>	strain	DOID:1826	epilepsy		IAGP		D	RGD:1358781|PMID:2479544	20170412	RGD			
1358918	W-<i>Plp1<sup>md</sup></i>/Nya	W-<i>Plp1</i><sup>md</sup>	strain	DOID:1826	epilepsy		IAGP		D	RGD:1358782|PMID:434110	19990101	RGD			
1358923	LE-<i>Mbp<sup>md</sup></i>		strain	DOID:3213	demyelinating disease		IAGP		D	RGD:1358763|PMID:10212300	20170412	RGD			
1359000	DA.F344-(<i>D10Arb27-D10Rat6</i>)/Nsi		strain	DOID:7148	rheumatoid arthritis		IAGP		D	RGD:1359065|PMID:15944295	20070214	RGD			
1359004	DA.F344-(<i>D10Mit9-D10Rat11</i>)/Nsi		strain	DOID:7148	rheumatoid arthritis	induces	IAGP		D	RGD:1359065|PMID:15944295	20070214	RGD			
1359017	Hrtrt21	Heart rate QTL 21	qtl	DOID:114	heart disease		IAGP		D	RGD:625381|PMID:11882571	19990101	RGD			
1359018	Hrtrt20	Heart rate QTL 20	qtl	DOID:114	heart disease		IAGP		D	RGD:625381|PMID:11882571	19990101	RGD			
1359019	Hrtrt19	Heart rate QTL 19	qtl	DOID:114	heart disease		IAGP		D	RGD:625381|PMID:11882571	19990101	RGD			
1359019	Hrtrt19	Heart rate QTL 19	qtl	DOID:9007001	Bradycardia		IAGP		D	RGD:625381|PMID:11882571	19990101	RGD			
1359020	Ppulsi2	Prepulse inhibition QTL 2	qtl	DOID:5419	schizophrenia		QTM		D	RGD:629579|PMID:12426667	19990101	RGD			
1359021	Bp271	Blood pressure QTL 271	qtl	DOID:10763	hypertension		IAGP		D	RGD:625381|PMID:11882571	19990101	RGD			
1359022	Ppulsi1	Prepulse inhibition QTL 1	qtl	DOID:5419	schizophrenia		QTM		D	RGD:629579|PMID:12426667	19990101	RGD			
1359023	Bp272	Blood pressure QTL 272	qtl	DOID:10763	hypertension		IAGP		D	RGD:625381|PMID:11882571	19990101	RGD			
1359030	Bp277	Blood pressure QTL 277	qtl	DOID:10763	hypertension		QTM		D	RGD:629618|PMID:12209022	19990101	RGD			
1359031	Bp275	Blood pressure QTL 275	qtl	DOID:10763	hypertension		QTM		D	RGD:629618|PMID:12209022	19990101	RGD			
1359032	Hrtrt18	Heart rate QTL 18	qtl	DOID:114	heart disease		IAGP		D	RGD:629618|PMID:12209022	19990101	RGD			
1359032	Hrtrt18	Heart rate QTL 18	qtl	DOID:9007001	Bradycardia		IAGP		D	RGD:629618|PMID:12209022	19990101	RGD			
1359033	Bp273	Blood pressure QTL 273	qtl	DOID:10763	hypertension		IAGP		D	RGD:1358955|PMID:12388796	19990101	RGD			
1359034	Bp274	Blood pressure QTL 274	qtl	DOID:10763	hypertension		QTM		D	RGD:629618|PMID:12209022	19990101	RGD			
1359035	Bp276	Blood pressure QTL 276	qtl	DOID:10763	hypertension		QTM		D	RGD:629618|PMID:12209022	19990101	RGD			
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:0060058	lymphoma		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:10534	stomach cancer		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:1115	sarcoma		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:1324	lung cancer		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:1909	melanoma		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:3275	thymoma		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:4362	cervical cancer		ISO	RGD:1347745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:5041	esophageal cancer		ISO	RGD:1347745	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359090	Lilrb4	leukocyte immunoglobulin like receptor B4	gene	DOID:9256	colorectal cancer		ISO	RGD:1347745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359092	Krt10	keratin 10	gene	DOID:0061208	epidermolytic hyperkeratosis 2B		ISO	RGD:1354394	D	RGD:7240710	20251105	OMIM			
1359092	Krt10	keratin 10	gene	DOID:0061208	epidermolytic hyperkeratosis 2B		ISO	RGD:1354394	D	RGD:8554872	20251104	ClinVar		ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 2B, autosomal recessive	PMID:25741868|PMID:28492532
1359092	Krt10	keratin 10	gene	DOID:0061223	epidermolytic hyperkeratosis 2A		ISO	RGD:1354394	D	RGD:7240710	20251105	OMIM			
1359092	Krt10	keratin 10	gene	DOID:0061223	epidermolytic hyperkeratosis 2A		ISO	RGD:1354394	D	RGD:8554872	20251104	ClinVar		ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 2A, autosomal dominant	PMID:25741868|PMID:28492532
1359092	Krt10	keratin 10	gene	DOID:161	keratosis		ISO	RGD:1354394	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35363433
1359092	Krt10	keratin 10	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1354394	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
1359092	Krt10	keratin 10	gene	DOID:2773	contact dermatitis		ISO	RGD:1354394	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1359092	Krt10	keratin 10	gene	DOID:4603	epidermolytic hyperkeratosis		ISS	RGD:1550484	D	RGD:13592920	20230606	MouseDO		OMIM:113800	
1359092	Krt10	keratin 10	gene	DOID:4603	epidermolytic hyperkeratosis	susceptibility	ISO	RGD:1354394	D	RGD:1600168|PMID:7512983	20070301	RGD		DNA:mutations:cds: p.R156C (human)	
1359092	Krt10	keratin 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359092	Krt10	keratin 10	gene	DOID:630	genetic disease		ISO	RGD:1354394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1359092	Krt10	keratin 10	gene	DOID:9000839	Ichthyosis Hystrix Gravior		ISO	RGD:1354394	D	RGD:7240710	20221214	OMIM			
1359092	Krt10	keratin 10	gene	DOID:9000839	Ichthyosis Hystrix Gravior		ISO	RGD:1354394	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Ichthyosis hystrix gravior	PMID:25741868|PMID:28492532
1359092	Krt10	keratin 10	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1354394	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
1359092	Krt10	keratin 10	gene	DOID:9004887	Annular Epidermolytic Ichthyosis 1		ISO	RGD:1354394	D	RGD:7240710	20130221	OMIM			
1359092	Krt10	keratin 10	gene	DOID:9004887	Annular Epidermolytic Ichthyosis 1		ISO	RGD:1354394	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic 1	PMID:25741868|PMID:28492532
1359092	Krt10	keratin 10	gene	DOID:9005778	Annular Epidermolytic Ichthyosis		ISO	RGD:1354394	D	RGD:11554173	20221213	CTD		CTD Direct Evidence: marker/mechanism	
1359092	Krt10	keratin 10	gene	DOID:9006224	Reticular Erythrokeratoderma		ISO	RGD:1354394	D	RGD:7240710	20130221	OMIM			
1359092	Krt10	keratin 10	gene	DOID:9006224	Reticular Erythrokeratoderma		ISO	RGD:1354394	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma | ClinVar Annotator: match by term: ICHTHYOSIS WITH CONFETTI	PMID:25741868|PMID:28492532
1359092	Krt10	keratin 10	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1354394	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19953893
1359092	Krt10	keratin 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359093	Cdca3	cell division cycle associated 3	gene	DOID:0080600	COVID-19		ISO	RGD:1345166	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1359093	Cdca3	cell division cycle associated 3	gene	DOID:1324	lung cancer		ISO	RGD:1345166	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359093	Cdca3	cell division cycle associated 3	gene	DOID:4362	cervical cancer		ISO	RGD:1345166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359093	Cdca3	cell division cycle associated 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359093	Cdca3	cell division cycle associated 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345166	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1359093	Cdca3	cell division cycle associated 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359094	Zfp672	zinc finger protein 672	gene	DOID:0060058	lymphoma		ISO	RGD:1602674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359094	Zfp672	zinc finger protein 672	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359096	Nfatc2ip	nuclear factor of activated T-cells 2 interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359097	Krt25	keratin 25	gene	DOID:0111574	autosomal recessive woolly hair 3		ISO	RGD:1353851	D	RGD:7240710	20190315	OMIM			
1359097	Krt25	keratin 25	gene	DOID:0111574	autosomal recessive woolly hair 3		ISO	RGD:1353851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KRT25-related condition | ClinVar Annotator: match by term: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS | ClinVar Annotator: match by term: Woolly hair, autosomal recessive 3	PMID:26902920|PMID:28492532
1359097	Krt25	keratin 25	gene	DOID:9001083	Autosomal Recessive Woolly Hair		ISO	RGD:1353851	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1359097	Krt25	keratin 25	gene	DOID:9001083	Autosomal Recessive Woolly Hair		ISO	RGD:1353851	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive woolly hair	PMID:26160856
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:1307	dementia		IEP		D	RGD:9685031|PMID:20545768	20141215	RGD		protein:decreased expression:hippocampus	
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:305	carcinoma		ISO	RGD:1347618	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:3275	thymoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:9685028|PMID:20141154	20141215	RGD		protein:decreased expression:spinal cord	
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1347618	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1347618	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1347618	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359099	Capzb	capping actin protein of muscle Z-line subunit beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:1909	melanoma		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359100	Tram1	translocation associated membrane protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359104	Ppm1j	protein phosphatase, Mg2+/Mn2+ dependent, 1J	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359104	Ppm1j	protein phosphatase, Mg2+/Mn2+ dependent, 1J	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359104	Ppm1j	protein phosphatase, Mg2+/Mn2+ dependent, 1J	gene	DOID:1324	lung cancer		ISO	RGD:1603861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359104	Ppm1j	protein phosphatase, Mg2+/Mn2+ dependent, 1J	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359104	Ppm1j	protein phosphatase, Mg2+/Mn2+ dependent, 1J	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1359104	Ppm1j	protein phosphatase, Mg2+/Mn2+ dependent, 1J	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359104	Ppm1j	protein phosphatase, Mg2+/Mn2+ dependent, 1J	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1359105	Fbxo25	F-box protein 25	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359105	Fbxo25	F-box protein 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359105	Fbxo25	F-box protein 25	gene	DOID:10534	stomach cancer		ISO	RGD:1603223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359105	Fbxo25	F-box protein 25	gene	DOID:1115	sarcoma		ISO	RGD:1603223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359105	Fbxo25	F-box protein 25	gene	DOID:1909	melanoma		ISO	RGD:1603223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359105	Fbxo25	F-box protein 25	gene	DOID:3070	high grade glioma		ISO	RGD:1603223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359105	Fbxo25	F-box protein 25	gene	DOID:4362	cervical cancer		ISO	RGD:1603223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359105	Fbxo25	F-box protein 25	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359105	Fbxo25	F-box protein 25	gene	DOID:5041	esophageal cancer		ISO	RGD:1603223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359105	Fbxo25	F-box protein 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359105	Fbxo25	F-box protein 25	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359106	Hmgn3	high mobility group nucleosomal binding domain 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359106	Hmgn3	high mobility group nucleosomal binding domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359106	Hmgn3	high mobility group nucleosomal binding domain 3	gene	DOID:1909	melanoma		ISO	RGD:1352330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359106	Hmgn3	high mobility group nucleosomal binding domain 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359106	Hmgn3	high mobility group nucleosomal binding domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359106	Hmgn3	high mobility group nucleosomal binding domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602828	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1602828	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:0060213	C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis		ISO	RGD:1602828	D	RGD:7240710	20130221	OMIM			
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:0060213	C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis		ISO	RGD:1602828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	PMID:25741868
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:10534	stomach cancer		ISO	RGD:1602828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:1115	sarcoma		ISO	RGD:1602828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:1324	lung cancer		ISO	RGD:1602828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:3070	high grade glioma		ISO	RGD:1602828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:3275	thymoma		ISO	RGD:1602828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1602828	D	RGD:11554173	20210601	CTD		CTD Direct Evidence: marker/mechanism	PMID:25442110|PMID:27713094|PMID:28122516|PMID:28478440|PMID:28973294
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:417	autoimmune disease		ISS	RGD:1620759	D	RGD:13592920	20190228	MouseDO		OMIM:109100 | OMIM:607836 | OMIM:613551	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:5614	eye disease		ISO	RGD:1602828	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:33661518
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1602828	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:1602828	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:25442110|PMID:27713094
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1602828	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:33661518
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:9003713	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis		ISO	RGD:1602828	D	RGD:11554173	20250429	CTD		CTD Direct Evidence: marker/mechanism	PMID:26769963
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:9003713	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis		ISO	RGD:1602828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359108	C9orf72	C9orf72, member of C9orf72-SMCR8 complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359109	Clec4a1	C-type lectin domain family 4, member A1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1618839	D	RGD:11554173	20220913	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:10892	hypospadias		ISO	RGD:1344658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868|PMID:33154040|PMID:35300924
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:10907	microcephaly		ISO	RGD:1344658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:33154040|PMID:35300924
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:1115	sarcoma		ISO	RGD:1344658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:11383	cryptorchidism		ISO	RGD:1344658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:33154040|PMID:35300924
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:12849	autistic disorder		ISO	RGD:1344658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:27476655
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:3275	thymoma		ISO	RGD:1344658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:5041	esophageal cancer		ISO	RGD:1344658	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:630	genetic disease		ISO	RGD:1344658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27476655|PMID:28492532
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:9004866	Ataxia		ISO	RGD:1344658	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20502676
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1344658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:27476655
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:9005682	SHORT STATURE-MICROGNATHIA SYNDROME		ISO	RGD:1344658	D	RGD:628374612|PMID:35300924	20251009	RGD		DNA:variants:exons,introns:	
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:9005682	SHORT STATURE-MICROGNATHIA SYNDROME		ISO	RGD:1344658	D	RGD:7240710	20190315	OMIM			
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:9005682	SHORT STATURE-MICROGNATHIA SYNDROME		ISO	RGD:1344658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARCN1-related condition | ClinVar Annotator: match by term: SHORT STATURE-MICROGNATHIA SYNDROME | ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	PMID:25741868|PMID:27476655|PMID:28492532|PMID:31075182|PMID:32720330|PMID:33154040|PMID:35300924|PMID:38044464|PMID:39731039
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359110	Arcn1	archain 1 coat protein complex I subunit delta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27476655
1359111	Tor2a	torsin family 2, member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359111	Tor2a	torsin family 2, member A	gene	DOID:3275	thymoma		ISO	RGD:1345727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359111	Tor2a	torsin family 2, member A	gene	DOID:4362	cervical cancer		ISO	RGD:1345727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359111	Tor2a	torsin family 2, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359111	Tor2a	torsin family 2, member A	gene	DOID:6039	uveal melanoma		ISO	RGD:1345727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1359111	Tor2a	torsin family 2, member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359111	Tor2a	torsin family 2, member A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353066	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353066	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359112	Sdad1	SDA1 domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359113	Cdv3	carnitine deficiency-associated gene expressed in ventricle 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359113	Cdv3	carnitine deficiency-associated gene expressed in ventricle 3	gene	DOID:1909	melanoma		ISO	RGD:1602107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359113	Cdv3	carnitine deficiency-associated gene expressed in ventricle 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1602107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359113	Cdv3	carnitine deficiency-associated gene expressed in ventricle 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359113	Cdv3	carnitine deficiency-associated gene expressed in ventricle 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359113	Cdv3	carnitine deficiency-associated gene expressed in ventricle 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359114	Zfp667	zinc finger protein 667	gene	DOID:10534	stomach cancer		ISO	RGD:1603200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359114	Zfp667	zinc finger protein 667	gene	DOID:1324	lung cancer		ISO	RGD:1603200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359114	Zfp667	zinc finger protein 667	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359114	Zfp667	zinc finger protein 667	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359114	Zfp667	zinc finger protein 667	gene	DOID:9006223	Kidney Reperfusion Injury	ameliorates	ISO	RGD:1552946	D	RGD:329845564|PMID:24920753	20230528	RGD			
1359115	Krt27	keratin 27	gene	DOID:1909	melanoma		ISO	RGD:1345701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359115	Krt27	keratin 27	gene	DOID:3275	thymoma		ISO	RGD:1345701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359115	Krt27	keratin 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359115	Krt27	keratin 27	gene	DOID:9256	colorectal cancer		ISO	RGD:1345701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359117	Vezt	vezatin, adherens junctions transmembrane protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359117	Vezt	vezatin, adherens junctions transmembrane protein	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1602106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1359117	Vezt	vezatin, adherens junctions transmembrane protein	gene	DOID:10534	stomach cancer		ISO	RGD:1602106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359117	Vezt	vezatin, adherens junctions transmembrane protein	gene	DOID:4362	cervical cancer		ISO	RGD:1602106	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359117	Vezt	vezatin, adherens junctions transmembrane protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602106	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359117	Vezt	vezatin, adherens junctions transmembrane protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359117	Vezt	vezatin, adherens junctions transmembrane protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359117	Vezt	vezatin, adherens junctions transmembrane protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359117	Vezt	vezatin, adherens junctions transmembrane protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359117	Vezt	vezatin, adherens junctions transmembrane protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359118	Kifc1	kinesin family member C1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359118	Kifc1	kinesin family member C1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359118	Kifc1	kinesin family member C1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1349353	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1359118	Kifc1	kinesin family member C1	gene	DOID:0080600	COVID-19		ISO	RGD:1349353	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1359118	Kifc1	kinesin family member C1	gene	DOID:10534	stomach cancer		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359118	Kifc1	kinesin family member C1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359118	Kifc1	kinesin family member C1	gene	DOID:1324	lung cancer		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359118	Kifc1	kinesin family member C1	gene	DOID:3275	thymoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359118	Kifc1	kinesin family member C1	gene	DOID:4362	cervical cancer		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359118	Kifc1	kinesin family member C1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359118	Kifc1	kinesin family member C1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359118	Kifc1	kinesin family member C1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359118	Kifc1	kinesin family member C1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349353	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1359118	Kifc1	kinesin family member C1	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1349353	D	RGD:11554173	20200211	CTD		CTD Direct Evidence: marker/mechanism	PMID:26177331
1359118	Kifc1	kinesin family member C1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359118	Kifc1	kinesin family member C1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359119	Sft2d1	SFT2 domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359119	Sft2d1	SFT2 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359119	Sft2d1	SFT2 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1343304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359119	Sft2d1	SFT2 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343304	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359119	Sft2d1	SFT2 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359119	Sft2d1	SFT2 domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359119	Sft2d1	SFT2 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359119	Sft2d1	SFT2 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359119	Sft2d1	SFT2 domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359119	Sft2d1	SFT2 domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1343304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359120	Carmil3	capping protein regulator and myosin 1 linker 3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1349280	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1359120	Carmil3	capping protein regulator and myosin 1 linker 3	gene	DOID:1324	lung cancer		ISO	RGD:1349280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359120	Carmil3	capping protein regulator and myosin 1 linker 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359120	Carmil3	capping protein regulator and myosin 1 linker 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359120	Carmil3	capping protein regulator and myosin 1 linker 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359120	Carmil3	capping protein regulator and myosin 1 linker 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359120	Carmil3	capping protein regulator and myosin 1 linker 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359123	Mycbpap	Mycbp associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359123	Mycbpap	Mycbp associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359123	Mycbpap	Mycbp associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1345665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359123	Mycbpap	Mycbp associated protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359123	Mycbpap	Mycbp associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1345665	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359123	Mycbpap	Mycbp associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359123	Mycbpap	Mycbp associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359123	Mycbpap	Mycbp associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359124	Cyb5d2	cytochrome b5 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359124	Cyb5d2	cytochrome b5 domain containing 2	gene	DOID:0060058	lymphoma		ISO	RGD:1606739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359124	Cyb5d2	cytochrome b5 domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359124	Cyb5d2	cytochrome b5 domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1606739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359124	Cyb5d2	cytochrome b5 domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606739	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359124	Cyb5d2	cytochrome b5 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359124	Cyb5d2	cytochrome b5 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359124	Cyb5d2	cytochrome b5 domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359125	Omg	oligodendrocyte-myelin glycoprotein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:30306369	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25741868
1359126	Trim26	tripartite motif-containing 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359126	Trim26	tripartite motif-containing 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359126	Trim26	tripartite motif-containing 26	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359126	Trim26	tripartite motif-containing 26	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359126	Trim26	tripartite motif-containing 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359126	Trim26	tripartite motif-containing 26	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359126	Trim26	tripartite motif-containing 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359126	Trim26	tripartite motif-containing 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359126	Trim26	tripartite motif-containing 26	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359127	C7h19orf25	similar to human chromosome 19 open reading frame 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352315	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359127	C7h19orf25	similar to human chromosome 19 open reading frame 25	gene	DOID:1115	sarcoma		ISO	RGD:1352315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359127	C7h19orf25	similar to human chromosome 19 open reading frame 25	gene	DOID:1324	lung cancer		ISO	RGD:1352315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359127	C7h19orf25	similar to human chromosome 19 open reading frame 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359128	Selenot	selenoprotein T	gene	DOID:4362	cervical cancer		ISO	RGD:1602000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359128	Selenot	selenoprotein T	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359128	Selenot	selenoprotein T	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability		ISO	RGD:1604357	D	RGD:7240710	20190315	OMIM			
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability		ISO	RGD:1604357	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability | ClinVar Annotator: match by term: INPP5K-related condition | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND IMPAIRED INTELLECTUAL DEVELOPMENT	PMID:25741868|PMID:28190456|PMID:28492532|PMID:28940338|PMID:33119550
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:0081337	congenital myopathy		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:10534	stomach cancer		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:1059	intellectual disability		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:10907	microcephaly		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:1324	lung cancer		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:2340	craniosynostosis		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:3275	thymoma		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:423	myopathy		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:4362	cervical cancer		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:5041	esophageal cancer		ISO	RGD:1604357	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:6039	uveal melanoma		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:630	genetic disease		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26940976|PMID:28190459
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:83	cataract		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9000343	Vision Disorders		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1604357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28190456|PMID:28940338|PMID:33119550
1359130	Inpp5k	inositol polyphosphate-5-phosphatase K	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359131	Dnajb13	DnaJ heat shock protein family (Hsp40) member B13	gene	DOID:0110610	primary ciliary dyskinesia 34		ISO	RGD:1603338	D	RGD:7240710	20190315	OMIM			
1359131	Dnajb13	DnaJ heat shock protein family (Hsp40) member B13	gene	DOID:0110610	primary ciliary dyskinesia 34		ISO	RGD:1603338	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 34 | ClinVar Annotator: match by term: DNAJB13-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 34	PMID:25741868|PMID:28492532
1359131	Dnajb13	DnaJ heat shock protein family (Hsp40) member B13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359131	Dnajb13	DnaJ heat shock protein family (Hsp40) member B13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359131	Dnajb13	DnaJ heat shock protein family (Hsp40) member B13	gene	DOID:9007073	Cough		ISO	RGD:1603338	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Cough	PMID:25741868|PMID:28492532
1359131	Dnajb13	DnaJ heat shock protein family (Hsp40) member B13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359131	Dnajb13	DnaJ heat shock protein family (Hsp40) member B13	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1603338	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:25741868|PMID:28492532
1359132	Armcx2	armadillo repeat containing, X-linked 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359132	Armcx2	armadillo repeat containing, X-linked 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359132	Armcx2	armadillo repeat containing, X-linked 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359132	Armcx2	armadillo repeat containing, X-linked 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359133	Aldoart2	aldolase 1 A retrogene 2	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:735815	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES	PMID:25741868
1359133	Aldoart2	aldolase 1 A retrogene 2	gene	DOID:2634	cystadenoma		ISO	RGD:735815	D	RGD:9068941	20200702	RGD		protein:increased expression:pancreas	PMID:19077459|REF_RGD_ID:2325696
1359135	Mink1	misshapen-like kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1359135	Mink1	misshapen-like kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1604362	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1359135	Mink1	misshapen-like kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:1826	epilepsy		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1359135	Mink1	misshapen-like kinase 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1359135	Mink1	misshapen-like kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604362	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604362	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359135	Mink1	misshapen-like kinase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359136	Ints12	integrator complex subunit 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359136	Ints12	integrator complex subunit 12	gene	DOID:10534	stomach cancer		ISO	RGD:1601748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359136	Ints12	integrator complex subunit 12	gene	DOID:3275	thymoma		ISO	RGD:1601748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359136	Ints12	integrator complex subunit 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1601748	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359136	Ints12	integrator complex subunit 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359136	Ints12	integrator complex subunit 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359136	Ints12	integrator complex subunit 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359137	Wrap73	WD repeat containing, antisense to TP73	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359137	Wrap73	WD repeat containing, antisense to TP73	gene	DOID:10534	stomach cancer		ISO	RGD:1350775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359137	Wrap73	WD repeat containing, antisense to TP73	gene	DOID:1115	sarcoma		ISO	RGD:1350775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359137	Wrap73	WD repeat containing, antisense to TP73	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359137	Wrap73	WD repeat containing, antisense to TP73	gene	DOID:4362	cervical cancer		ISO	RGD:1350775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359137	Wrap73	WD repeat containing, antisense to TP73	gene	DOID:5041	esophageal cancer		ISO	RGD:1350775	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359137	Wrap73	WD repeat containing, antisense to TP73	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359137	Wrap73	WD repeat containing, antisense to TP73	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359137	Wrap73	WD repeat containing, antisense to TP73	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359138	Slc16a13	solute carrier family 16, member 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359138	Slc16a13	solute carrier family 16, member 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359138	Slc16a13	solute carrier family 16, member 13	gene	DOID:1115	sarcoma		ISO	RGD:1354212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359138	Slc16a13	solute carrier family 16, member 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359138	Slc16a13	solute carrier family 16, member 13	gene	DOID:9001915	Short Stature with Nonspecific Skeletal Abnormalities 1		ISO	RGD:1354212	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities 1	PMID:25741868|PMID:34211098
1359139	Slfn9	schlafen family member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359139	Slfn9	schlafen family member 9	gene	DOID:0080600	COVID-19		ISO	RGD:1605312	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1359139	Slfn9	schlafen family member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359140	Mpzl1	myelin protein zero-like 1	gene	DOID:1909	melanoma		ISO	RGD:1343477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359140	Mpzl1	myelin protein zero-like 1	gene	DOID:305	carcinoma		ISO	RGD:1343477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1359140	Mpzl1	myelin protein zero-like 1	gene	DOID:3275	thymoma		ISO	RGD:1343477	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359140	Mpzl1	myelin protein zero-like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359140	Mpzl1	myelin protein zero-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359140	Mpzl1	myelin protein zero-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359140	Mpzl1	myelin protein zero-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359140	Mpzl1	myelin protein zero-like 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1343477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1359140	Mpzl1	myelin protein zero-like 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1343477	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1359140	Mpzl1	myelin protein zero-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359141	Spg21	SPG21 abhydrolase domain containing, maspardin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359141	Spg21	SPG21 abhydrolase domain containing, maspardin	gene	DOID:0060245	MAST syndrome		ISO	RGD:1351182	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359141	Spg21	SPG21 abhydrolase domain containing, maspardin	gene	DOID:0060245	MAST syndrome		ISO	RGD:1351182	D	RGD:7240710	20130221	OMIM			
1359141	Spg21	SPG21 abhydrolase domain containing, maspardin	gene	DOID:0060245	MAST syndrome		ISO	RGD:1351182	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MAST SYNDROME | ClinVar Annotator: match by term: Mast syndrome | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: mast syndrome	PMID:14564668|PMID:16199547|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:35111129|PMID:9536098
1359141	Spg21	SPG21 abhydrolase domain containing, maspardin	gene	DOID:0060245	MAST syndrome		ISS	RGD:1550519	D	RGD:13592920	20230718	MouseDO		OMIM:248900	
1359141	Spg21	SPG21 abhydrolase domain containing, maspardin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1351182	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:14564668|PMID:25741868|PMID:26467025|PMID:28492532
1359141	Spg21	SPG21 abhydrolase domain containing, maspardin	gene	DOID:2476	hereditary spastic paraplegia	susceptibility	ISO	RGD:1351182	D	RGD:1556574|PMID:14564668	20061214	RGD			
1359141	Spg21	SPG21 abhydrolase domain containing, maspardin	gene	DOID:4362	cervical cancer		ISO	RGD:1351182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359141	Spg21	SPG21 abhydrolase domain containing, maspardin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359141	Spg21	SPG21 abhydrolase domain containing, maspardin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359141	Spg21	SPG21 abhydrolase domain containing, maspardin	gene	DOID:9002396	Spinocerebellar Ataxia 50		ISO	RGD:1351182	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia 50	PMID:25741868
1359141	Spg21	SPG21 abhydrolase domain containing, maspardin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359141	Spg21	SPG21 abhydrolase domain containing, maspardin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1343381	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures	PMID:28492532
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1343381	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:16199547|PMID:28492532
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1343381	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33057194|PMID:35982159|PMID:9536098
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1550518	D	RGD:10044242|PMID:22541428	20150604	RGD		protein:altered localization:liver, Golgi (mouse)	
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy	severity	ISO	RGD:1550518	D	RGD:10044242|PMID:22541428	20150604	RGD			
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:3911	progeria	severity	ISO	RGD:1550518	D	RGD:10044242|PMID:22541428	20150604	RGD			
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359142	Sun1	Sad1 and UNC84 domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:11476	osteoporosis		ISO	RGD:1352326	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1352326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1352326	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:14791	Leber congenital amaurosis		ISS	RGD:1552962	D	RGD:13592920	20241212	MouseDO			
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1352326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1352326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1352326	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1352326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Testicular germ cell tumor	
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359143	Cct2	chaperonin containing TCP1 subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:1059	intellectual disability		ISO	RGD:1344986	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:1059	intellectual disability		ISO	RGD:1344986	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:2843	long QT syndrome		ISO	RGD:1344986	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:4362	cervical cancer		ISO	RGD:1344986	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1344986	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9003293	Li-Campeau Syndrome		ISO	RGD:1344986	D	RGD:7240710	20210303	OMIM			
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9003293	Li-Campeau Syndrome		ISO	RGD:1344986	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: LI-CAMPEAU SYNDROME | ClinVar Annotator: match by term: Li-Campeau syndrome	PMID:25741868|PMID:33340455
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344986	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359144	Ubr7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359145	Krt40	keratin 40	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606169	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:0060058	lymphoma		ISO	RGD:1343920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:0060260	ptosis		ISO	RGD:1343920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1343920	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17576681|PMID:28492532|PMID:9536098
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:1826	epilepsy		ISO	RGD:1343920	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:3649	pyruvate decarboxylase deficiency		ISO	RGD:1343920	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15138885
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:3649	pyruvate decarboxylase deficiency		ISO	RGD:1343920	D	RGD:1599115|PMID:15138885	20070117	RGD			
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:3649	pyruvate decarboxylase deficiency		ISO	RGD:1343920	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Pyruvate decarboxylase deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase deficiency	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1343920	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25401301
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1343920	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:9004857	Pyruvate Dehydrogenase E1-Beta Deficiency		ISO	RGD:1343920	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:9004857	Pyruvate Dehydrogenase E1-Beta Deficiency		ISO	RGD:1343920	D	RGD:7240710	20141015	OMIM			
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:9004857	Pyruvate Dehydrogenase E1-Beta Deficiency		ISO	RGD:1343920	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: PDHB-related condition | ClinVar Annotator: match by term: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY | ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency	PMID:15138885|PMID:16199547|PMID:17576681|PMID:18164639|PMID:19924563|PMID:21914562|PMID:25356417|PMID:25741868|PMID:26014431|PMID:26865159|PMID:28492532|PMID:9536098|PMID:9924563
1359146	Pdhb	pyruvate dehydrogenase E1 subunit beta	gene	DOID:9005740	Pyruvate Dehydrogenase Phosphatase Deficiency		ISO	RGD:1343920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency	PMID:18164639|PMID:21914562|PMID:25356417|PMID:25741868|PMID:28492532|PMID:38703036
1359147	Kazn	kazrin, periplakin interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359147	Kazn	kazrin, periplakin interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359147	Kazn	kazrin, periplakin interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359147	Kazn	kazrin, periplakin interacting protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359147	Kazn	kazrin, periplakin interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359147	Kazn	kazrin, periplakin interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359147	Kazn	kazrin, periplakin interacting protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359147	Kazn	kazrin, periplakin interacting protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1359147	Kazn	kazrin, periplakin interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359148	Utp25	UTP25 small subunit processome component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359148	Utp25	UTP25 small subunit processome component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359148	Utp25	UTP25 small subunit processome component	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1604367	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25007945
1359148	Utp25	UTP25 small subunit processome component	gene	DOID:10534	stomach cancer		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359148	Utp25	UTP25 small subunit processome component	gene	DOID:2394	ovarian cancer		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359148	Utp25	UTP25 small subunit processome component	gene	DOID:4362	cervical cancer		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359148	Utp25	UTP25 small subunit processome component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359148	Utp25	UTP25 small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359148	Utp25	UTP25 small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359148	Utp25	UTP25 small subunit processome component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359148	Utp25	UTP25 small subunit processome component	gene	DOID:9256	colorectal cancer		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359150	Uqcrc2	ubiquinol cytochrome c reductase core protein 2	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1352193	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1359150	Uqcrc2	ubiquinol cytochrome c reductase core protein 2	gene	DOID:0080114	mitochondrial complex III deficiency nuclear type 5		ISO	RGD:1352193	D	RGD:7240710	20140903	OMIM			
1359150	Uqcrc2	ubiquinol cytochrome c reductase core protein 2	gene	DOID:0080114	mitochondrial complex III deficiency nuclear type 5		ISO	RGD:1352193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5	PMID:25741868|PMID:36509339
1359150	Uqcrc2	ubiquinol cytochrome c reductase core protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359150	Uqcrc2	ubiquinol cytochrome c reductase core protein 2	gene	DOID:9970	obesity		ISO	RGD:1352193	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
1359151	Tifa	TRAF-interacting protein with forkhead-associated domain	gene	DOID:0060058	lymphoma		ISO	RGD:1606192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359151	Tifa	TRAF-interacting protein with forkhead-associated domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:0080600	COVID-19		ISO	RGD:1352377	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1352377	D	RGD:30309209|PMID:32360286	20200618	RGD		protein:increased expression:plasma (human)	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:10325	silicosis		IEP		D	RGD:6483764|PMID:21830856	20120530	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:1063	interstitial nephritis		IEP		D	RGD:6483768|PMID:10385480	20120530	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:1063	interstitial nephritis		ISO	RGD:1352377	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10385480
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:1352377	D	RGD:6483824|PMID:11090473	20120604	RGD		protein:increased expression:conjunctiva	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:1551007	D	RGD:5130981|PMID:16888287	20110419	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:1205	allergic disease		ISO	RGD:1352377	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:13580	cholestasis		ISO	RGD:1352377	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224055
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1352377	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:2377	multiple sclerosis		ISO	RGD:1352377	D	RGD:6483814|PMID:9655469	20120604	RGD		mRNA,protein:increased expression:brain	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:2377	multiple sclerosis		ISO	RGD:1352377	D	RGD:6483818|PMID:12127674	20120604	RGD		DNA:polymorphism:promoter	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:2527	nephrosis		IEP		D	RGD:4891422|PMID:10867541	20120530	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:2799	bronchiolitis obliterans		IEP		D	RGD:6483763|PMID:22215510	20120530	RGD		protein:increased expression:bronchoalveolar Lavage fluid	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:2841	asthma		ISO	RGD:1352377	D	RGD:5130983|PMID:21388664	20110419	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:2841	asthma		ISO	RGD:1551007	D	RGD:5130979|PMID:19965981	20110419	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:2921	glomerulonephritis		IDA		D	RGD:8693624|PMID:11157384	20120530	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:2921	glomerulonephritis		ISO	RGD:1352377	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10385480
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1352377	D	RGD:6483765|PMID:21327296	20120530	RGD		mRNA,protein:increased expression:macrophage	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1352377	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12374626
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:4483	rhinitis		ISO	RGD:1352377	D	RGD:4145109|PMID:17982926	20110419	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:4617	periapical granuloma		ISO	RGD:1352377	D	RGD:6483772|PMID:20646081	20120531	RGD		protein:increased expression:periodontal ligament	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:552	pneumonia		ISO	RGD:1352377	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:552	pneumonia		ISO	RGD:1352377	D	RGD:5130985|PMID:15191918	20110419	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:820	myocarditis		ISO	RGD:1551007	D	RGD:6483771|PMID:21986287	20120531	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:823	periapical periodontitis	disease_progression	ISO	RGD:1352377	D	RGD:6483772|PMID:20646081	20120531	RGD		protein:increased expression:periodontal ligament	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1551007	D	RGD:5130978|PMID:20027288	20110419	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:8466	retinal degeneration		ISO	RGD:1551007	D	RGD:6483781|PMID:16270028	20120531	RGD		mRNA:increased expression:retina	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:8577	ulcerative colitis		ISO	RGD:1352377	D	RGD:6483784|PMID:10433925	20120531	RGD		protein:increased expression:colon	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1551007	D	RGD:5130980|PMID:18490489	20110419	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:9001004	Chronic Periodontitis	disease_progression	ISO	RGD:1352377	D	RGD:6483776|PMID:20151806	20120531	RGD		protein:increased expression:gingival crevicular fluid, gingvia	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:9001573	Experimental Liver Cirrhosis		IEP		D	RGD:6483766|PMID:17719030	20120530	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1551007	D	RGD:329902072|PMID:34400126	20230630	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:9002457	Experimental Arthritis	onset	ISO	RGD:1551007	D	RGD:6483780|PMID:17178563	20140130	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:9005334	Radicular Cyst		ISO	RGD:1352377	D	RGD:6483772|PMID:20646081	20120531	RGD		protein:increased expression:periodontal ligament	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:9005724	Fungal Lung Diseases		ISO	RGD:1551007	D	RGD:5129686|PMID:20045013	20110419	RGD			
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:9007889	Nephrogenic Fibrosing Dermopathy		IEP		D	RGD:5135067|PMID:19131226	20120530	RGD		protein:increased expression:serum	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:934	viral infectious disease		ISO	RGD:1352377	D	RGD:5130984|PMID:18579545	20110419	RGD		Various respiratory viruses	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:9507	ethmoid sinusitis		ISO	RGD:1352377	D	RGD:6483785|PMID:9800627	20120531	RGD		protein:increased expression:ethmoid sinus	
1359152	Ccl7	C-C motif chemokine ligand 7	gene	DOID:9970	obesity		ISO	RGD:1352377	D	RGD:6483834|PMID:18492752	20120604	RGD			
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:1353279	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:10534	stomach cancer		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:1115	sarcoma		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:1324	lung cancer		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:1909	melanoma		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:1967	leiomyosarcoma		ISO	RGD:1353279	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26555296
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:4362	cervical cancer		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1353279	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:6039	uveal melanoma		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:630	genetic disease		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:9001536	Pseudo-TORCH Syndrome 2		ISO	RGD:1353279	D	RGD:7240710	20190315	OMIM			
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:9001536	Pseudo-TORCH Syndrome 2		ISO	RGD:1353279	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PSEUDO-TORCH SYNDROME 2 | ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2	PMID:25741868
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1353279	D	RGD:40400915|PMID:28036111	20201105	RGD			
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1353279	D	RGD:11554173	20220111	CTD		CTD Direct Evidence: therapeutic	PMID:33930521
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1353279	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27980214
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1359153	Usp18	ubiquitin specific peptidase 18	gene	DOID:9256	colorectal cancer		ISO	RGD:1353279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:1115	sarcoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606810	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:9007433	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES		ISO	RGD:1606810	D	RGD:7240710	20190918	OMIM			
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:9007433	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES		ISO	RGD:1606810	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES | ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and variable skeletal anomalies | ClinVar Annotator: match by term: WIPI2-related condition	PMID:25741868|PMID:28492532
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359154	Wipi2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359156	Spata32	spermatogenesis associated 32	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603588	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1359157	Slc25a34	solute carrier family 25, member 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359157	Slc25a34	solute carrier family 25, member 34	gene	DOID:4362	cervical cancer		ISO	RGD:1606920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359157	Slc25a34	solute carrier family 25, member 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359158	C1h9orf85	similar to human chromosome 9 open reading frame 85	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359158	C1h9orf85	similar to human chromosome 9 open reading frame 85	gene	DOID:0060058	lymphoma		ISO	RGD:1605873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359158	C1h9orf85	similar to human chromosome 9 open reading frame 85	gene	DOID:1115	sarcoma		ISO	RGD:1605873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359158	C1h9orf85	similar to human chromosome 9 open reading frame 85	gene	DOID:1324	lung cancer		ISO	RGD:1605873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359158	C1h9orf85	similar to human chromosome 9 open reading frame 85	gene	DOID:3275	thymoma		ISO	RGD:1605873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359158	C1h9orf85	similar to human chromosome 9 open reading frame 85	gene	DOID:4362	cervical cancer		ISO	RGD:1605873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359158	C1h9orf85	similar to human chromosome 9 open reading frame 85	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359158	C1h9orf85	similar to human chromosome 9 open reading frame 85	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359158	C1h9orf85	similar to human chromosome 9 open reading frame 85	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359160	Gemin8	gem (nuclear organelle) associated protein 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359160	Gemin8	gem (nuclear organelle) associated protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359160	Gemin8	gem (nuclear organelle) associated protein 8	gene	DOID:1324	lung cancer		ISO	RGD:1343150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359160	Gemin8	gem (nuclear organelle) associated protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359160	Gemin8	gem (nuclear organelle) associated protein 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359160	Gemin8	gem (nuclear organelle) associated protein 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359161	Epdr1	ependymin related 1	gene	DOID:1324	lung cancer		ISO	RGD:1343278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359161	Epdr1	ependymin related 1	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:1343278	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27064256
1359161	Epdr1	ependymin related 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359164	Pofut3	protein O-fucosyltransferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359164	Pofut3	protein O-fucosyltransferase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359164	Pofut3	protein O-fucosyltransferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1354084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359164	Pofut3	protein O-fucosyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359164	Pofut3	protein O-fucosyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359164	Pofut3	protein O-fucosyltransferase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359165	Yipf5	Yip1 domain family, member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359165	Yipf5	Yip1 domain family, member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359165	Yipf5	Yip1 domain family, member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1602093	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359165	Yipf5	Yip1 domain family, member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359165	Yipf5	Yip1 domain family, member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602093	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359165	Yipf5	Yip1 domain family, member 5	gene	DOID:9007409	Microcephaly, Epilepsy, and Diabetes Syndrome 2		ISO	RGD:1602093	D	RGD:7240710	20210505	OMIM			
1359165	Yipf5	Yip1 domain family, member 5	gene	DOID:9007409	Microcephaly, Epilepsy, and Diabetes Syndrome 2		ISO	RGD:1602093	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2 | ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2	PMID:25741868
1359165	Yipf5	Yip1 domain family, member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359167	Nuak2	NUAK family kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359167	Nuak2	NUAK family kinase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359167	Nuak2	NUAK family kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359167	Nuak2	NUAK family kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359167	Nuak2	NUAK family kinase 2	gene	DOID:9007291	Anencephaly 2		ISO	RGD:1603952	D	RGD:7240710	20210728	OMIM			
1359167	Nuak2	NUAK family kinase 2	gene	DOID:9007291	Anencephaly 2		ISO	RGD:1603952	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Anencephaly 2	PMID:25741868
1359167	Nuak2	NUAK family kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603952	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359171	Mrpl9	mitochondrial ribosomal protein L9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359171	Mrpl9	mitochondrial ribosomal protein L9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359171	Mrpl9	mitochondrial ribosomal protein L9	gene	DOID:10534	stomach cancer		ISO	RGD:1350314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359171	Mrpl9	mitochondrial ribosomal protein L9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359171	Mrpl9	mitochondrial ribosomal protein L9	gene	DOID:1324	lung cancer		ISO	RGD:1350314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359171	Mrpl9	mitochondrial ribosomal protein L9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359171	Mrpl9	mitochondrial ribosomal protein L9	gene	DOID:4362	cervical cancer		ISO	RGD:1350314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359171	Mrpl9	mitochondrial ribosomal protein L9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359171	Mrpl9	mitochondrial ribosomal protein L9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359171	Mrpl9	mitochondrial ribosomal protein L9	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350314	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
1359171	Mrpl9	mitochondrial ribosomal protein L9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359171	Mrpl9	mitochondrial ribosomal protein L9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359172	Dhrs1	dehydrogenase/reductase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352104	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1359173	Mief1	mitochondrial elongation factor 1	gene	DOID:5723	optic atrophy		ISO	RGD:1604008	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1359173	Mief1	mitochondrial elongation factor 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1604008	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:29177109
1359173	Mief1	mitochondrial elongation factor 1	gene	DOID:9009065	Optic Atrophy 14		ISO	RGD:1604008	D	RGD:7240710	20231101	OMIM			
1359173	Mief1	mitochondrial elongation factor 1	gene	DOID:9009065	Optic Atrophy 14		ISO	RGD:1604008	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OPTIC ATROPHY 14	
1359175	F12	coagulation factor XII	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:1345372	D	RGD:11041862|PMID:15232129	20160330	RGD		DNA:polymorphism::46C>T(human)	
1359175	F12	coagulation factor XII	gene	DOID:0060002	C1 inhibitor deficiency		ISO	RGD:11666274	D	RGD:9068941	20260709	ClinVar		ClinVar Annotator: match by term: C1 ESTERASE INHIBITOR DEFICIENCY	PMID:25741868|PMID:28492532
1359175	F12	coagulation factor XII	gene	DOID:0060903	thrombosis		ISO	RGD:1345372	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Thrombus	PMID:25741868
1359175	F12	coagulation factor XII	gene	DOID:0080940	hereditary angioedema type III		ISO	RGD:1345372	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359175	F12	coagulation factor XII	gene	DOID:0080940	hereditary angioedema type III		ISO	RGD:1345372	D	RGD:7240710	20130221	OMIM			
1359175	F12	coagulation factor XII	gene	DOID:0080940	hereditary angioedema type III		ISO	RGD:1345372	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE III | ClinVar Annotator: match by term: F12-related condition | ClinVar Annotator: match by term: HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION	PMID:17576681|PMID:18974842|PMID:19933701|PMID:21264442|PMID:21690105|PMID:21849258|PMID:21920016|PMID:23188048|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25113305|PMID:25524745|PMID:25741868|PMID:25744496|PMID:26286125|PMID:27130860|PMID:28483295|PMID:28492532|PMID:29587641|PMID:33727708|PMID:37307703|PMID:8528215|PMID:9354665|PMID:9536098
1359175	F12	coagulation factor XII	gene	DOID:0080941	acquired angioedema	disease_progression	ISO	RGD:1345372	D	RGD:11565081|PMID:9129025	20161118	RGD			
1359175	F12	coagulation factor XII	gene	DOID:10534	stomach cancer		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:25524745|PMID:25741868|PMID:28492532|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098
1359175	F12	coagulation factor XII	gene	DOID:10763	hypertension		ISO	RGD:1345372	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:6383834
1359175	F12	coagulation factor XII	gene	DOID:1115	sarcoma		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359175	F12	coagulation factor XII	gene	DOID:14735	hereditary angioedema		ISO	RGD:1345372	D	RGD:11041802|PMID:21849258	20160329	RGD		DNA:deletion mutations:exon,intron:	
1359175	F12	coagulation factor XII	gene	DOID:14735	hereditary angioedema		ISO	RGD:1345372	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19477491
1359175	F12	coagulation factor XII	gene	DOID:14735	hereditary angioedema	disease_progression	ISO	RGD:1345372	D	RGD:11565081|PMID:9129025	20161118	RGD			
1359175	F12	coagulation factor XII	gene	DOID:1558	angioedema		ISO	RGD:1345372	D	RGD:1601106|PMID:16638441	20070406	RGD		DNA:missense:exon:T309K,T309R	
1359175	F12	coagulation factor XII	gene	DOID:1909	melanoma		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:25524745|PMID:25741868|PMID:28492532|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098
1359175	F12	coagulation factor XII	gene	DOID:2231	factor XII deficiency		ISO	RGD:1345372	D	RGD:11041769|PMID:11248286	20160329	RGD		DNA:polymorphism:promoter:-46C>T(human)	
1359175	F12	coagulation factor XII	gene	DOID:2231	factor XII deficiency		ISO	RGD:1345372	D	RGD:11041772|PMID:20386432	20160329	RGD		DNA:missense, nonsense, deletion mutations:cds:	
1359175	F12	coagulation factor XII	gene	DOID:2231	factor XII deficiency		ISO	RGD:1345372	D	RGD:11041805|PMID:18024408	20160329	RGD		DNA:deletion mutations, transversion mutation:introns, exon:	
1359175	F12	coagulation factor XII	gene	DOID:2231	factor XII deficiency		ISO	RGD:1345372	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359175	F12	coagulation factor XII	gene	DOID:2231	factor XII deficiency		ISO	RGD:1345372	D	RGD:1601107|PMID:2510163	20070406	RGD		DNA:missense:exon:C571S	
1359175	F12	coagulation factor XII	gene	DOID:2231	factor XII deficiency		ISO	RGD:1345372	D	RGD:7240710	20130221	OMIM			
1359175	F12	coagulation factor XII	gene	DOID:2231	factor XII deficiency		ISO	RGD:1345372	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: F12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease	PMID:17576681|PMID:21264442|PMID:21920016|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25524745|PMID:25741868|PMID:28492532|PMID:29587641|PMID:33727708|PMID:37307703|PMID:8528215|PMID:9354665|PMID:9536098
1359175	F12	coagulation factor XII	gene	DOID:2231	factor XII deficiency		ISS	RGD:1552499	D	RGD:13592920	20230718	MouseDO		OMIM:234000	
1359175	F12	coagulation factor XII	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1552499	D	RGD:11041786|PMID:16533887	20160329	RGD			
1359175	F12	coagulation factor XII	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1345372	D	RGD:11041786|PMID:16533887	20160329	RGD			
1359175	F12	coagulation factor XII	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:25524745|PMID:25741868|PMID:28492532|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098
1359175	F12	coagulation factor XII	gene	DOID:2394	ovarian cancer		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359175	F12	coagulation factor XII	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1552499	D	RGD:11041786|PMID:16533887	20160329	RGD			
1359175	F12	coagulation factor XII	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:1345372	D	RGD:11041786|PMID:16533887	20160329	RGD			
1359175	F12	coagulation factor XII	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359175	F12	coagulation factor XII	gene	DOID:4362	cervical cancer		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:25524745|PMID:25741868|PMID:28492532|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098
1359175	F12	coagulation factor XII	gene	DOID:5041	esophageal cancer		ISO	RGD:1345372	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:25524745|PMID:25741868|PMID:28492532|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098
1359175	F12	coagulation factor XII	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:25524745|PMID:25741868|PMID:28492532|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098
1359175	F12	coagulation factor XII	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1345372	D	RGD:11041803|PMID:16411408	20160329	RGD		DNA:polymorphism:promoter:-46C>T(human)	
1359175	F12	coagulation factor XII	gene	DOID:630	genetic disease		ISO	RGD:1345372	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359175	F12	coagulation factor XII	gene	DOID:9000528	Coronary Disease		ISO	RGD:1345372	D	RGD:11041785|PMID:18021303	20160329	RGD		protein:decreased activity::	
1359175	F12	coagulation factor XII	gene	DOID:9000543	Death		ISO	RGD:1345372	D	RGD:11041782|PMID:17388965	20160329	RGD			
1359175	F12	coagulation factor XII	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1345372	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
1359175	F12	coagulation factor XII	gene	DOID:9003121	Thromboembolism		ISO	RGD:1345372	D	RGD:11041771|PMID:16009717	20160329	RGD			
1359175	F12	coagulation factor XII	gene	DOID:9003121	Thromboembolism		ISO	RGD:1345372	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16009717
1359175	F12	coagulation factor XII	gene	DOID:9003121	Thromboembolism		ISO	RGD:1552499	D	RGD:11041771|PMID:16009717	20160329	RGD			
1359175	F12	coagulation factor XII	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1345372	D	RGD:11041799|PMID:24597288	20160329	RGD		protein:decreased activity: :	
1359175	F12	coagulation factor XII	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deep vein thrombosis	PMID:25741868
1359175	F12	coagulation factor XII	gene	DOID:9003871	Venous Thrombosis	susceptibility	ISO	RGD:1345372	D	RGD:11041808|PMID:15116249	20160329	RGD		DNA:polymorphism::46C>T(human)	
1359175	F12	coagulation factor XII	gene	DOID:9003871	Venous Thrombosis	susceptibility	ISO	RGD:1345372	D	RGD:11041858|PMID:20141580	20160330	RGD		associated with Pregnancy Complications; DNA:polymorphism::46C>T(human)	
1359175	F12	coagulation factor XII	gene	DOID:9005930	Endotoxemia		IEP		D	RGD:7394782|PMID:11092686	20160121	RGD			
1359175	F12	coagulation factor XII	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:25524745|PMID:25741868|PMID:28492532|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098
1359175	F12	coagulation factor XII	gene	DOID:9008217	Hemorrhage		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bleeding | ClinVar Annotator: match by term: bleeding	PMID:25741868
1359175	F12	coagulation factor XII	gene	DOID:9279	hyperhomocysteinemia	treatment	IDA		D	RGD:1601105|PMID:16046705	20160121	RGD			
1359175	F12	coagulation factor XII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345372	D	RGD:2312416|PMID:7974333	20090811	RGD		protein:increased activity:plasma (human)	
1359176	Paip2	poly(A) binding protein interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1312240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359176	Paip2	poly(A) binding protein interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312240	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359176	Paip2	poly(A) binding protein interacting protein 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1312240	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
1359177	Krt80	keratin 80	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359177	Krt80	keratin 80	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359177	Krt80	keratin 80	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359177	Krt80	keratin 80	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359177	Krt80	keratin 80	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:0060249	scoliosis		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:0080006	bone development disease		ISO	RGD:1601866	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20018682
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:20018682|PMID:23320496|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:0081072	craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebro-facio-thoracic dysplasia | ClinVar Annotator: match by term: Cerebrofaciothoracic dysplasia	PMID:20018682|PMID:23320496|PMID:24033266|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451|PMID:30755392|PMID:31102500|PMID:32214227
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:0081072	craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		ISS	RGD:1601866	D	RGD:13592920	20220728	MouseDO		OMIM:213980	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:0081124	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1		ISO	RGD:1601866	D	RGD:7240710	20220810	OMIM			
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:1059	intellectual disability		ISO	RGD:1601866	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20018682
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:1059	intellectual disability		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:1067	open-angle glaucoma		ISO	RGD:1601866	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532571
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:12849	autistic disorder		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:14766	renal agenesis		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:20018682|PMID:23320496|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:3275	thymoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:540	strabismus		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:557	kidney disease		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:20018682|PMID:23320496|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:628	combined T cell and B cell immunodeficiency		ISO	RGD:1601866	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital combined immunodeficiency	PMID:20018682|PMID:23320496|PMID:24033266|PMID:24194475|PMID:24424126|PMID:25627829
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:630	genetic disease		ISO	RGD:1601866	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:674	cleft palate		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:20018682|PMID:23320496|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451|PMID:30755392|PMID:31102500|PMID:32214227
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:9004934	BILATERAL CLEFT LIP		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cleft lip	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:9005004	Musculoskeletal Abnormalities		ISO	RGD:1601866	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20018682
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:20018682|PMID:23320496|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:9006635	Hyponatremia		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:20018682|PMID:23320496|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1601866	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20018682
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:9009007	Tooth Abnormalities		ISO	RGD:1601866	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20018682
1359178	Tmco1	transmembrane and coiled-coil domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359180	Rchy1	ring finger and CHY zinc finger domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359180	Rchy1	ring finger and CHY zinc finger domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359180	Rchy1	ring finger and CHY zinc finger domain containing 1	gene	DOID:11446	sciatic neuropathy		IEP		D	RGD:10045367|PMID:21959983	20150609	RGD		protein:increased expression:sciatic nerve	
1359180	Rchy1	ring finger and CHY zinc finger domain containing 1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1359180	Rchy1	ring finger and CHY zinc finger domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359180	Rchy1	ring finger and CHY zinc finger domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359180	Rchy1	ring finger and CHY zinc finger domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359180	Rchy1	ring finger and CHY zinc finger domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353437	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359180	Rchy1	ring finger and CHY zinc finger domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359180	Rchy1	ring finger and CHY zinc finger domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359180	Rchy1	ring finger and CHY zinc finger domain containing 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1353437	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191284
1359180	Rchy1	ring finger and CHY zinc finger domain containing 1	gene	DOID:9000998	Brain Injuries		IEP		D	RGD:10045359|PMID:21728064	20150609	RGD		protein:increased expression:cerebral cortex	
1359180	Rchy1	ring finger and CHY zinc finger domain containing 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1353437	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191284
1359180	Rchy1	ring finger and CHY zinc finger domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359183	Pglyrp2	peptidoglycan recognition protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359183	Pglyrp2	peptidoglycan recognition protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359187	Lhpp	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	gene	DOID:10534	stomach cancer		ISO	RGD:1606248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359187	Lhpp	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:1606248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359187	Lhpp	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	gene	DOID:3275	thymoma		ISO	RGD:1606248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359187	Lhpp	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	gene	DOID:4362	cervical cancer		ISO	RGD:1606248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359187	Lhpp	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359187	Lhpp	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:0060058	lymphoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:1115	sarcoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:1324	lung cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:1909	melanoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:3275	thymoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1606811	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606811	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:25741868
1359188	Acot9	acyl-CoA thioesterase 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
1359189	Ift38	intraflagellar transport 38	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359189	Ift38	intraflagellar transport 38	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1354421	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:28492532|PMID:28679688
1359189	Ift38	intraflagellar transport 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359189	Ift38	intraflagellar transport 38	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1354421	D	RGD:8554872	20160510	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:26820066
1359189	Ift38	intraflagellar transport 38	gene	DOID:1909	melanoma		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:28492532
1359189	Ift38	intraflagellar transport 38	gene	DOID:4362	cervical cancer		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359189	Ift38	intraflagellar transport 38	gene	DOID:5041	esophageal cancer		ISO	RGD:1354421	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359189	Ift38	intraflagellar transport 38	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359189	Ift38	intraflagellar transport 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359189	Ift38	intraflagellar transport 38	gene	DOID:8501	fundus dystrophy		ISO	RGD:1354421	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1359189	Ift38	intraflagellar transport 38	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:28492532|PMID:28679688
1359189	Ift38	intraflagellar transport 38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359189	Ift38	intraflagellar transport 38	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532|PMID:28679688
1359189	Ift38	intraflagellar transport 38	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359189	Ift38	intraflagellar transport 38	gene	DOID:9256	colorectal cancer		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359190	Raver1	ribonucleoprotein, PTB-binding 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359190	Raver1	ribonucleoprotein, PTB-binding 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359190	Raver1	ribonucleoprotein, PTB-binding 1	gene	DOID:1115	sarcoma		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359190	Raver1	ribonucleoprotein, PTB-binding 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359190	Raver1	ribonucleoprotein, PTB-binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359190	Raver1	ribonucleoprotein, PTB-binding 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1603914	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1359190	Raver1	ribonucleoprotein, PTB-binding 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359190	Raver1	ribonucleoprotein, PTB-binding 1	gene	DOID:630	genetic disease		ISO	RGD:1603914	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1359190	Raver1	ribonucleoprotein, PTB-binding 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359190	Raver1	ribonucleoprotein, PTB-binding 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1359190	Raver1	ribonucleoprotein, PTB-binding 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359190	Raver1	ribonucleoprotein, PTB-binding 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359191	Trmt61a	tRNA methyltransferase 61A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359191	Trmt61a	tRNA methyltransferase 61A	gene	DOID:11725	Cornelia de Lange syndrome		ISO	RGD:1343016	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: De Lange syndrome	PMID:25741868|PMID:31479589
1359191	Trmt61a	tRNA methyltransferase 61A	gene	DOID:5041	esophageal cancer		ISO	RGD:1343016	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:0070014	autosomal dominant dyskeratosis congenita 1		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1	PMID:18252230|PMID:1828011|PMID:18669893|PMID:19090550|PMID:20301779|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22211879|PMID:23094712|PMID:25741868|PMID:26859482|PMID:28492532|PMID:29742735|PMID:30523342|PMID:32054657|PMID:34522616|PMID:34573280|PMID:35776903|PMID:36073719|PMID:37070599
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:0070018	autosomal dominant dyskeratosis congenita 3		ISO	RGD:1354058	D	RGD:7240710	20140911	OMIM			
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:0070018	autosomal dominant dyskeratosis congenita 3		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 | ClinVar Annotator: match by term: dyskeratosis congenita, autosomal dominant 3	PMID:18252230|PMID:18669893|PMID:19090550|PMID:20301779|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22211879|PMID:23094712|PMID:25741868|PMID:26193622|PMID:26859482|PMID:28492532|PMID:29742735|PMID:30523342|PMID:32054657|PMID:34522616|PMID:34573280|PMID:35776903|PMID:36073719|PMID:37070599
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:0070026	Revesz syndrome		ISO	RGD:1354058	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252230
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:0070026	Revesz syndrome		ISO	RGD:1354058	D	RGD:7240710	20130221	OMIM			
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:0070026	Revesz syndrome		ISO	RGD:1354058	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Exudative retinopathy with bone marrow failure | ClinVar Annotator: match by term: REVESZ SYNDROME | ClinVar Annotator: match by term: Revesz syndrome | ClinVar Annotator: match by term: TINF2-related condition	PMID:17576681|PMID:20301779|PMID:25505254|PMID:25741868|PMID:26193622|PMID:28492532|PMID:9536098
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:0080087	nonsyndromic congenital nail disorder 9		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nail dysplasia	PMID:18252230|PMID:18669893|PMID:19090550|PMID:20301779|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22211879|PMID:23094712|PMID:25741868|PMID:26859482|PMID:28492532|PMID:29742735|PMID:30523342|PMID:32054657|PMID:34522616|PMID:34573280|PMID:35776903|PMID:36073719|PMID:37070599
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:12449	aplastic anemia		ISO	RGD:1354058	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	PMID:20301779
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:1909	melanoma		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1354058	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252230
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:16199547|PMID:17576681|PMID:18252230|PMID:18669893|PMID:19090550|PMID:20301779|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22211879|PMID:23094712|PMID:25741868|PMID:26193622|PMID:26859482|PMID:28492532|PMID:29146883|PMID:29742735|PMID:30523342|PMID:32054657|PMID:32499645|PMID:33258446|PMID:34522616|PMID:34573280|PMID:35776903|PMID:36073719|PMID:37070599|PMID:37944684|PMID:9536098
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:2729	dyskeratosis congenita		ISS	RGD:1617589	D	RGD:13592920	20230718	MouseDO			
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:2786	cerebellar disease		ISO	RGD:1354058	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252230
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:3086	gingival overgrowth		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	PMID:18252230|PMID:18669893|PMID:19090550|PMID:20301779|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22211879|PMID:23094712|PMID:25741868|PMID:26859482|PMID:28492532|PMID:29742735|PMID:30523342|PMID:32054657|PMID:34522616|PMID:34573280|PMID:35776903|PMID:36073719|PMID:37070599
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:3275	thymoma		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:16199547|PMID:25741868|PMID:28492532|PMID:32499645
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1354058	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:18252230|PMID:21536674|PMID:28492532
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:4123	nail disease		ISO	RGD:1354058	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252230
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:4961	bone marrow disease		ISO	RGD:1354058	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252230
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1354058	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:16199547|PMID:25741868|PMID:28492532|PMID:32499645
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:9000981	Autosomal Dominant Dyskeratosis Congenita		ISO	RGD:1354058	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:9005221	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	PMID:25539146|PMID:25741868|PMID:28492532
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:9006257	Growth Disorders		ISO	RGD:1354058	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252230
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:9563	bronchiectasis		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:16199547|PMID:25741868|PMID:28492532|PMID:32499645
1359192	Tinf2	TERF1 interacting nuclear factor 2	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:1354058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oral mucosa leukoplakia	PMID:18252230|PMID:18669893|PMID:19090550|PMID:20301779|PMID:21199492|PMID:21477109|PMID:21536674|PMID:22211879|PMID:23094712|PMID:25741868|PMID:26859482|PMID:28492532|PMID:29742735|PMID:30523342|PMID:32054657|PMID:34522616|PMID:34573280|PMID:35776903|PMID:36073719|PMID:37070599
1359193	Gpr180	G protein-coupled receptor 180	gene	DOID:1324	lung cancer		ISO	RGD:1604518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359193	Gpr180	G protein-coupled receptor 180	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359193	Gpr180	G protein-coupled receptor 180	gene	DOID:3070	high grade glioma		ISO	RGD:1604518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359193	Gpr180	G protein-coupled receptor 180	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359193	Gpr180	G protein-coupled receptor 180	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359193	Gpr180	G protein-coupled receptor 180	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359194	Fam151a	family with sequence similarity 151, member A	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1603341	D	RGD:152177496|PMID:27354594	20220513	RGD		DNA:SNP:3'utr: (rs11206394) G>C (human)	
1359195	Tlcd1	TLC domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602658	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359195	Tlcd1	TLC domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1352836	D	RGD:7364874|PMID:19018717	20131004	RGD		DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:0050426	Stevens-Johnson syndrome	susceptibility	ISO	RGD:1352836	D	RGD:7365090|PMID:23692434	20131018	RGD		DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:0060180	colitis		ISO	RGD:1352836	D	RGD:7387221|PMID:2257626	20131024	RGD		human gene in rat model; DNA:polymorphisms:cds:HLA-B27 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:0080160	cytomegalovirus retinitis		ISO	RGD:1352836	D	RGD:7365106|PMID:11564593	20131021	RGD		associated with HIV Infections; DNA:polymorphisms, haplotype:cds:HLA-B44 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:0080750	erythema nodosum		ISO	RGD:1352836	D	RGD:7364926|PMID:12198697	20131011	RGD		associated with Inflammatory Bowel Diseases;  DNA:polymorphisms:cds:multiple (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:0111079	birdshot chorioretinopathy		ISO	RGD:1352836	D	RGD:7365121|PMID:3341436	20131022	RGD		DNA:polymorphisms:cds:HLA-B12 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352836	D	RGD:7365120|PMID:2909230	20131022	RGD		Unilateral Childhood Sensorineural Hearing Loss; DNA:polymorphisms:cds:HLA-Bw54 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:1123	spondyloarthropathy		ISO	RGD:1352836	D	RGD:7387221|PMID:2257626	20140205	RGD		DNA:polymorphisms:cds:HLA-B27 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:11265	trachoma		ISO	RGD:1352836	D	RGD:7364877|PMID:18824733	20131004	RGD		DNA:polymorphisms:cds:HLA-B*14 (human, Tanzanian)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:11335	sarcoidosis	susceptibility	ISO	RGD:1352836	D	RGD:7364872|PMID:23808178	20131004	RGD		DNA:polymorphisms:cds:HLA-B-7, HLA-B-8 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:11563	retinal vasculitis		ISO	RGD:1352836	D	RGD:7364920|PMID:12608042	20131011	RGD		associated with Behcet Syndrome; DNA:polymorphisms:cds HLA B-5 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:12185	otosclerosis	susceptibility	ISO	RGD:1352836	D	RGD:7364875|PMID:22471616	20131004	RGD		DNA:polymorphisms:cds:HLA-B*35, HLA-B*51 (human, Tunisian)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:12361	Graves' disease		ISO	RGD:1352836	D	RGD:7365110|PMID:8894996	20131022	RGD		DNA:polymorphisms:cds:HLA-B39 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:12361	Graves' disease	onset	ISO	RGD:1352836	D	RGD:7365118|PMID:2401095	20131022	RGD		DNA:polymorphisms:cds:HLA-B8 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:1352836	D	RGD:7365094|PMID:23329888	20131018	RGD		DNA:polymorphisms:cds:HLA-B*46 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:1352836	D	RGD:7365098|PMID:12694583	20131018	RGD		DNA:polymorphisms, haplotype:cds:HLA-B*5801 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:1352836	D	RGD:7365112|PMID:8096501	20131021	RGD		DNA:polymorphisms, haplotype:cds:HLA-B8 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:1352836	D	RGD:7365093|PMID:24033735	20131018	RGD		DNA:polymorphisms:cds:HLA-B*38 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:13141	uveitis		ISO	RGD:1352836	D	RGD:7364926|PMID:12198697	20131011	RGD		associated with Inflammatory Bowel Diseases;  DNA:polymorphisms:cds:HLA-B*27, HLA-B*58 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:13141	uveitis	onset	ISO	RGD:1352836	D	RGD:7364788|PMID:23831258	20130927	RGD		associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B*51 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:13141	uveitis	treatment	ISO	RGD:1352836	D	RGD:7364942|PMID:9232451	20131011	RGD			
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:13241	Behcet's disease		ISO	RGD:1352836	D	RGD:7364873|PMID:16101830	20131004	RGD		DNA:polymorphisms:cds:HLA-B*51 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:13241	Behcet's disease	disease_progression	ISO	RGD:1352836	D	RGD:7364918|PMID:12622781	20131011	RGD		DNA:polymorphisms:cds:HLA-B*15 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:1352836	D	RGD:7364939|PMID:11426025	20131011	RGD		severe disease;  DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:1407	anterior uveitis		ISO	RGD:1352836	D	RGD:7364913|PMID:16899524	20131011	RGD		DNA:polymorphisms:cds:HLA-B27 (human, Thai)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:1731	histoplasmosis		ISO	RGD:1352836	D	RGD:7364917|PMID:14522093	20131011	RGD		Presumed Ocular Histoplasmosis Syndrome;  DNA:polymorphisms:cds:HLA-B7 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:2723	dermatitis		ISO	RGD:1352836	D	RGD:7387278|PMID:7573371	20131028	RGD		human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:3611	acute retinal necrosis syndrome		ISO	RGD:1352836	D	RGD:7365119|PMID:2801857	20131022	RGD		DNA:polymorphisms:cds:HLA-Bw62 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:3875	thrombophlebitis		ISO	RGD:1352836	D	RGD:7364924|PMID:12372094	20131011	RGD		associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:6039	uveal melanoma	severity	ISO	RGD:1352836	D	RGD:7364941|PMID:9286277	20131011	RGD		protein:increased expression:tumor of uvea (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:6196	reactive arthritis		ISO	RGD:1352836	D	RGD:7365111|PMID:8154628	20131021	RGD		DNA:polymorphisms:cds:HLA-B27 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:7147	ankylosing spondylitis	susceptibility	ISO	RGD:1352836	D	RGD:7364914|PMID:8733445	20131011	RGD		DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:848	arthritis		ISO	RGD:1352836	D	RGD:7364930|PMID:10648455	20131011	RGD		associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:HLA-B*27, HLA-B*35, HLA-B*44 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:1352836	D	RGD:7365095|PMID:22981956	20131018	RGD		associated with Diabetes Mellitus, Type 1; DNA:polymorphisms:cds:HLA-B*49 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:9001044	Choroidal Neovascularization	susceptibility	ISO	RGD:1352836	D	RGD:7365097|PMID:19728932	20131018	RGD		associated with Macular Degeneration; DNA:polymorphisms:cds:HLA-B27 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:9001472	Nasal Polyps	susceptibility	ISO	RGD:1352836	D	RGD:7364876|PMID:18922348	20131004	RGD		DNA:polymorphisms:cds:HLA-B*07, HLA-B*57 (human, Turkish)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:1352836	D	RGD:7387273|PMID:9233694	20131028	RGD		human peptide in rat model; HLA-B7	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352836	D	RGD:7364915|PMID:15855027	20131011	RGD		associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B51 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:9004932	Eales Disease		ISO	RGD:1352836	D	RGD:7365108|PMID:9756436	20131021	RGD		DNA:polymorphisms, haplotypes:cds:HLA-B12, HLA-B44 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:9005647	Experimental Autoimmune Uveitis	treatment	ISO	RGD:1352836	D	RGD:7364916|PMID:15681796	20131011	RGD		human HLA-B27 peptide in rat model	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:9005647	Experimental Autoimmune Uveitis	treatment	ISO	RGD:1352836	D	RGD:7364942|PMID:9232451	20131023	RGD		human peptide in rat model; HLA-B27	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:9006927	Thyrotoxic Periodic Paralysis		ISO	RGD:1352836	D	RGD:8655904|PMID:1752149	20140522	RGD		protein:increased expression:peripheral blood cell (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:9007647	Trichiasis		ISO	RGD:1352836	D	RGD:7364877|PMID:18824733	20131004	RGD		DNA:polymorphisms:cds HLA-B*07, HLA-B*08 (human, Tanzanian)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:9849	Meniere's disease		ISO	RGD:1352836	D	RGD:7364921|PMID:12542204	20131011	RGD		DNA:polymorphisms:cds:HLA-B44 (human, South Korean)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:987	alopecia		ISO	RGD:1352836	D	RGD:7387278|PMID:7573371	20131028	RGD		human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human)	
1359196	RT1-CE13	RT1 class I, locus CE13	gene	DOID:988	mitral valve prolapse		ISO	RGD:1352836	D	RGD:7365110|PMID:8894996	20131022	RGD		associated with Graves Disease; DNA:polymorphisms:cds:HLA-B15 (human)	
1359197	Myzap	myocardial zonula adherens protein	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:5509958	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1359197	Myzap	myocardial zonula adherens protein	gene	DOID:9008711	Dilated Cardiomyopathy 2K		ISO	RGD:5509958	D	RGD:7240710	20240717	OMIM			
1359199	Enpp5	ectonucleotide pyrophosphatase/phosphodiesterase family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359199	Enpp5	ectonucleotide pyrophosphatase/phosphodiesterase family member 5	gene	DOID:0080600	COVID-19		ISO	RGD:1349666	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1359199	Enpp5	ectonucleotide pyrophosphatase/phosphodiesterase family member 5	gene	DOID:1324	lung cancer		ISO	RGD:1349666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359199	Enpp5	ectonucleotide pyrophosphatase/phosphodiesterase family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359199	Enpp5	ectonucleotide pyrophosphatase/phosphodiesterase family member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359199	Enpp5	ectonucleotide pyrophosphatase/phosphodiesterase family member 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1349666	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1359200	Akap8l	A-kinase anchoring protein 8 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359200	Akap8l	A-kinase anchoring protein 8 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359200	Akap8l	A-kinase anchoring protein 8 like	gene	DOID:10534	stomach cancer		ISO	RGD:1347470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359200	Akap8l	A-kinase anchoring protein 8 like	gene	DOID:1324	lung cancer		ISO	RGD:1347470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359200	Akap8l	A-kinase anchoring protein 8 like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359200	Akap8l	A-kinase anchoring protein 8 like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359200	Akap8l	A-kinase anchoring protein 8 like	gene	DOID:4362	cervical cancer		ISO	RGD:1347470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359200	Akap8l	A-kinase anchoring protein 8 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1347470	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359200	Akap8l	A-kinase anchoring protein 8 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359200	Akap8l	A-kinase anchoring protein 8 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359200	Akap8l	A-kinase anchoring protein 8 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359200	Akap8l	A-kinase anchoring protein 8 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359200	Akap8l	A-kinase anchoring protein 8 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359201	Nfxl1	nuclear transcription factor, X-box binding-like 1	gene	DOID:13580	cholestasis		ISO	RGD:1347533	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1359201	Nfxl1	nuclear transcription factor, X-box binding-like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359201	Nfxl1	nuclear transcription factor, X-box binding-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347533	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359201	Nfxl1	nuclear transcription factor, X-box binding-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359201	Nfxl1	nuclear transcription factor, X-box binding-like 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1347533	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1359202	Igh-6	immunoglobulin heavy chain 6	gene	DOID:9005369	Hepatomegaly		EXP		D	RGD:11554173	20180130	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1359203	Pdlim2	PDZ and LIM domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359203	Pdlim2	PDZ and LIM domain 2	gene	DOID:1324	lung cancer		ISO	RGD:1345506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359203	Pdlim2	PDZ and LIM domain 2	gene	DOID:1909	melanoma		ISO	RGD:1345506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359203	Pdlim2	PDZ and LIM domain 2	gene	DOID:3275	thymoma		ISO	RGD:1345506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359203	Pdlim2	PDZ and LIM domain 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359203	Pdlim2	PDZ and LIM domain 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345506	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359203	Pdlim2	PDZ and LIM domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359203	Pdlim2	PDZ and LIM domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359203	Pdlim2	PDZ and LIM domain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359203	Pdlim2	PDZ and LIM domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359204	C1qtnf1	C1q and TNF related 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359204	C1qtnf1	C1q and TNF related 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1350694	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1359204	C1qtnf1	C1q and TNF related 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359204	C1qtnf1	C1q and TNF related 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359206	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359206	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:0112220	developmental and epileptic encephalopathy 86		ISO	RGD:1352602	D	RGD:7240710	20200701	OMIM			
1359206	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:0112220	developmental and epileptic encephalopathy 86		ISO	RGD:1352602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 86	PMID:25741868
1359206	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359206	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359206	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359206	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359206	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359206	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1359206	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359206	Dalrd3	DALR anticodon binding domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359207	Mtnap1	mitochondrial nucleoid associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359207	Mtnap1	mitochondrial nucleoid associated protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1602883	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1359207	Mtnap1	mitochondrial nucleoid associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1602883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359207	Mtnap1	mitochondrial nucleoid associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359207	Mtnap1	mitochondrial nucleoid associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359208	Dmac2l	distal membrane arm assembly component 2 like	gene	DOID:10534	stomach cancer		ISO	RGD:1343474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359208	Dmac2l	distal membrane arm assembly component 2 like	gene	DOID:1324	lung cancer		ISO	RGD:1343474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359208	Dmac2l	distal membrane arm assembly component 2 like	gene	DOID:1909	melanoma		ISO	RGD:1343474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359209	Hba-a3	hemoglobin alpha, adult chain 3	gene	DOID:1099	alpha thalassemia		ISO	RGD:737064	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: A-Thalassemia | ClinVar Annotator: match by term: Alpha-thalassemia, zf type | ClinVar Annotator: match by term: alpha Thalassemia	PMID:10602170|PMID:1062801|PMID:10722113|PMID:10910890|PMID:10997982|PMID:11017952|PMID:11074535|PMID:1115799|PMID:11410420|PMID:1155453|PMID:11570724|PMID:11722414|PMID:11791870|PMID:11836160|PMID:12144061|PMID:12217813|PMID:12393486|PMID:12403487|PMID:12730694|PMID:1281602|PMID:13748254|PMID:13968068|PMID:14508795|PMID:14587048|PMID:1487423|PMID:15128423|PMID:15182058|PMID:15365991|PMID:15481883|PMID:15481894|PMID:15481895|PMID:1553958|PMID:15650030|PMID:15658192|PMID:1581238|PMID:15921163|PMID:16103716|PMID:16116675|PMID:1634361|PMID:16512835|PMID:16798638|PMID:1686260|PMID:17054428|PMID:17164653|PMID:1726096|PMID:17296579|PMID:17486494|PMID:17486499|PMID:1787098|PMID:1802886|PMID:18473243|PMID:18654893|PMID:18923834|PMID:19259674|PMID:19373587|PMID:19958200|PMID:20154289|PMID:20309827|PMID:20507641|PMID:20524822|PMID:20642333|PMID:20642338|PMID:20854116|PMID:21077766|PMID:21077767|PMID:21266019|PMID:21599435|PMID:21637442|PMID:21797711|PMID:21950764|PMID:21967524|PMID:2197725|PMID:22384838|PMID:22452522|PMID:2265255|PMID:22881835|PMID:22943743|PMID:2298455|PMID:23094635|PMID:23181747|PMID:2318293|PMID:23368878|PMID:23402770|PMID:23590659|PMID:23614625|PMID:2372512|PMID:23741188|PMID:2384313|PMID:23901141|PMID:24025420|PMID:24033266|PMID:24081251|PMID:24111644|PMID:24200101|PMID:24300714|PMID:24351118|PMID:2468982|PMID:24826792|PMID:24829075|PMID:25130136|PMID:25370869|PMID:2544542|PMID:25476779|PMID:25523870|PMID:2566576|PMID:25730315|PMID:25741868|PMID:25786670|PMID:25818820|PMID:25892676|PMID:25897478|PMID:25976777|PMID:26035111|PMID:2606110|PMID:2606723|PMID:26114741|PMID:26193976|PMID:26193977|PMID:26247176|PMID:26294665|PMID:26365411|PMID:26460264|PMID:26467025|PMID:26485748|PMID:26635043|PMID:26715484|PMID:26771086|PMID:26956449|PMID:27173219|PMID:27207683|PMID:27271331|PMID:2752146|PMID:27577202|PMID:28125089|PMID:28160324|PMID:28244614|PMID:28492532|PMID:28506685|PMID:28791910|PMID:29115104|PMID:29115167|PMID:29219637|PMID:29233055|PMID:29403210|PMID:29477874|PMID:29627922|PMID:29749692|PMID:2986746|PMID:3024968|PMID:30275481|PMID:30544257|PMID:30615015|PMID:30830998|PMID:30864493|PMID:31025160|PMID:31111755|PMID:31113390|PMID:31286593|PMID:31478238|PMID:31553106|PMID:3177365|PMID:3191033|PMID:31933393|PMID:32019385|PMID:3233770|PMID:32338097|PMID:32498570|PMID:32597250|PMID:32860378|PMID:32925409|PMID:33054450|PMID:33364739|PMID:33769430|PMID:3384694|PMID:3384700|PMID:34272389|PMID:34426522|PMID:35190856|PMID:35314707|PMID:3597771|PMID:36052950|PMID:3620699|PMID:36459106|PMID:36567661|PMID:36900038|PMID:3793931|PMID:3839776|PMID:4422784|PMID:4623704|PMID:4724958|PMID:4786652|PMID:478977|PMID:4944483|PMID:5122655|PMID:538560|PMID:5587575|PMID:5713624|PMID:5714528|PMID:5780195|PMID:5794113|PMID:5969816|PMID:6153381|PMID:6158051|PMID:6198906|PMID:6199285|PMID:620088|PMID:6255436|PMID:6327575|PMID:6490612|PMID:6646217|PMID:6689417|PMID:6725554|PMID:6826718|PMID:6935689|PMID:6946451|PMID:6994493|PMID:7070526|PMID:7096113|PMID:7110343|PMID:7151175|PMID:7295286|PMID:7327587|PMID:7440717|PMID:7502632|PMID:7515267|PMID:7639274|PMID:7701914|PMID:7734346|PMID:7803252|PMID:7803274|PMID:7910813|PMID:7947237|PMID:7969150|PMID:8136277|PMID:8178806|PMID:8192150|PMID:8193381|PMID:8237999|PMID:8460633|PMID:8537235|PMID:8555062|PMID:8602995|PMID:868864|PMID:8756078|PMID:8781536|PMID:8790146|PMID:8829628|PMID:9029003|PMID:9057661|PMID:9099846|PMID:9255612|PMID:9322079|PMID:9629496|PMID:974034
1359211	Dcakd	dephospho-CoA kinase domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1602678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359211	Dcakd	dephospho-CoA kinase domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1602678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359211	Dcakd	dephospho-CoA kinase domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1602678	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359211	Dcakd	dephospho-CoA kinase domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359211	Dcakd	dephospho-CoA kinase domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359211	Dcakd	dephospho-CoA kinase domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359211	Dcakd	dephospho-CoA kinase domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359211	Dcakd	dephospho-CoA kinase domain containing	gene	DOID:9256	colorectal cancer		ISO	RGD:1602678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359212	Pir	pirin	gene	DOID:2773	contact dermatitis		ISO	RGD:1342511	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1359212	Pir	pirin	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1342511	D	RGD:152998978|PMID:31687280	20220714	RGD		mRNA:altered expression:liver (human)	
1359212	Pir	pirin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359212	Pir	pirin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359213	Nutf2	nuclear transport factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359213	Nutf2	nuclear transport factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359213	Nutf2	nuclear transport factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1345837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359213	Nutf2	nuclear transport factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359213	Nutf2	nuclear transport factor 2	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1345837	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1359213	Nutf2	nuclear transport factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359213	Nutf2	nuclear transport factor 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1345837	D	RGD:9831377|PMID:19404486	20150304	RGD		mRNA:decreased expression:peripheral blood:	
1359213	Nutf2	nuclear transport factor 2	gene	DOID:8947	diabetic retinopathy	treatment	IDA		D	RGD:9831377|PMID:19404486	20150304	RGD			
1359213	Nutf2	nuclear transport factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359213	Nutf2	nuclear transport factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359214	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359214	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359214	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:1115	sarcoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359214	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:1909	melanoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359214	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:4362	cervical cancer		ISO	RGD:1342649	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359214	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359214	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342649	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359214	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359214	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359214	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359214	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342649	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359214	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359214	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1359214	Adgre1	adhesion G protein-coupled receptor E1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:0060264	pontocerebellar hypoplasia		ISO	RGD:1604000	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia | ClinVar Annotator: match by term: HEATR5B-associated Pontocerebellar hypoplasia	PMID:25741868|PMID:33824466
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:0070741	cerebellar atrophy with seizures and variable developmental delay		ISO	RGD:1604000	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:10534	stomach cancer		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:1115	sarcoma		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:1324	lung cancer		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:1909	melanoma		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:3275	thymoma		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:4362	cervical cancer		ISO	RGD:1604000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359216	Heatr5b	HEAT repeat containing 5B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: CEBPA-related disorder	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:10534	stomach cancer		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:1115	sarcoma		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:1324	lung cancer		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:1909	melanoma		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:2394	ovarian cancer		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1343563	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359219	Cnot10	CCR4-NOT transcription complex, subunit 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359220	Klf2	KLF transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359220	Klf2	KLF transcription factor 2	gene	DOID:0060058	lymphoma		ISO	RGD:1351701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359220	Klf2	KLF transcription factor 2	gene	DOID:0080600	COVID-19		ISO	RGD:1351701	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1359220	Klf2	KLF transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359220	Klf2	KLF transcription factor 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1351701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25283840|PMID:25428260|PMID:28522570|PMID:35101336
1359220	Klf2	KLF transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359220	Klf2	KLF transcription factor 2	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1351701	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	
1359220	Klf2	KLF transcription factor 2	gene	DOID:850	lung disease		ISO	RGD:1351701	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21053160
1359220	Klf2	KLF transcription factor 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1351701	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
1359222	Eif4h	eukaryotic translation initiation factor 4H	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:1347903	D	RGD:1580597|PMID:8812460	19990101	RGD			
1359222	Eif4h	eukaryotic translation initiation factor 4H	gene	DOID:1928	Williams-Beuren syndrome		ISS	RGD:1552543	D	RGD:13592920	20180518	MouseDO		OMIM:194050	
1359222	Eif4h	eukaryotic translation initiation factor 4H	gene	DOID:4362	cervical cancer		ISO	RGD:1347903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359222	Eif4h	eukaryotic translation initiation factor 4H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359222	Eif4h	eukaryotic translation initiation factor 4H	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359223	Xkrx	XK related, X-linked	gene	DOID:1324	lung cancer		ISO	RGD:1345703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359223	Xkrx	XK related, X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359223	Xkrx	XK related, X-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359226	Hgh1	HGH1 cochaperone	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359226	Hgh1	HGH1 cochaperone	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359227	Ydjc	YdjC chitooligosaccharide deacetylase homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359227	Ydjc	YdjC chitooligosaccharide deacetylase homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359227	Ydjc	YdjC chitooligosaccharide deacetylase homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359227	Ydjc	YdjC chitooligosaccharide deacetylase homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359227	Ydjc	YdjC chitooligosaccharide deacetylase homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359229	Nt5c3b	5'-nucleotidase, cytosolic IIIB	gene	DOID:1115	sarcoma		ISO	RGD:1602442	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359229	Nt5c3b	5'-nucleotidase, cytosolic IIIB	gene	DOID:1324	lung cancer		ISO	RGD:1602442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1359229	Nt5c3b	5'-nucleotidase, cytosolic IIIB	gene	DOID:1909	melanoma		ISO	RGD:1602442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359229	Nt5c3b	5'-nucleotidase, cytosolic IIIB	gene	DOID:4362	cervical cancer		ISO	RGD:1602442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359229	Nt5c3b	5'-nucleotidase, cytosolic IIIB	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602442	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359229	Nt5c3b	5'-nucleotidase, cytosolic IIIB	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359229	Nt5c3b	5'-nucleotidase, cytosolic IIIB	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343017	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:1115	sarcoma		ISO	RGD:1343017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:1324	lung cancer		ISO	RGD:1343017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1343017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359230	Tm9sf2	transmembrane 9 superfamily member 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1343017	D	RGD:2317244|PMID:12730115	20100323	RGD		mRNA:increased expression:bone marrow, mononuclear cells (human)	
1359231	Tssk3	testis-specific serine kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359231	Tssk3	testis-specific serine kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359231	Tssk3	testis-specific serine kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359232	Atl1	atlastin GTPase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359232	Atl1	atlastin GTPase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1352093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868
1359232	Atl1	atlastin GTPase 1	gene	DOID:0070156	hereditary sensory neuropathy type 1D		ISO	RGD:1352093	D	RGD:7240710	20140911	OMIM			
1359232	Atl1	atlastin GTPase 1	gene	DOID:0070156	hereditary sensory neuropathy type 1D		ISO	RGD:1352093	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary sensory neuropathy type 1D | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE ID | ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1D	PMID:16537571|PMID:21194679|PMID:21336785|PMID:22581552|PMID:23334294|PMID:23664116|PMID:24473461|PMID:25341883|PMID:25741868|PMID:26467025|PMID:26888483|PMID:28396731|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30780198|PMID:30919572|PMID:31227335|PMID:31630374|PMID:34546351|PMID:34808209
1359232	Atl1	atlastin GTPase 1	gene	DOID:0110791	hereditary spastic paraplegia 3A		ISO	RGD:1352093	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	
1359232	Atl1	atlastin GTPase 1	gene	DOID:0110791	hereditary spastic paraplegia 3A		ISO	RGD:1352093	D	RGD:7240710	20130221	OMIM			
1359232	Atl1	atlastin GTPase 1	gene	DOID:0110791	hereditary spastic paraplegia 3A		ISO	RGD:1352093	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: STRUMPELL DISEASE | ClinVar Annotator: match by term: Spastic Paraplegia 3A | ClinVar Annotator: match by term: Spastic paraplegia 3, autosomal dominant | ClinVar Annotator: match by term: Strumpell disease	PMID:10739752|PMID:11685207|PMID:12112092|PMID:12499504|PMID:12939451|PMID:14506257|PMID:14607301|PMID:14695538|PMID:15184642|PMID:15517445|PMID:15596607|PMID:15742100|PMID:15981243|PMID:16199547|PMID:16401858|PMID:16533974|PMID:16537571|PMID:17285536|PMID:17321752|PMID:17380240|PMID:17427918|PMID:17502470|PMID:17531128|PMID:17576681|PMID:17992088|PMID:18256395|PMID:19423133|PMID:19459885|PMID:19652243|PMID:19735987|PMID:19768483|PMID:20718791|PMID:20862796|PMID:20932283|PMID:21194679|PMID:21208200|PMID:21220294|PMID:21321493|PMID:21336785|PMID:21368113|PMID:21494555|PMID:22552817|PMID:22581552|PMID:23079343|PMID:23108492|PMID:23334294|PMID:23483706|PMID:23664116|PMID:23664119|PMID:23664120|PMID:23684613|PMID:23999326|PMID:24002164|PMID:24100245|PMID:24417445|PMID:24451228|PMID:24473461|PMID:24482476|PMID:24604904|PMID:24969372|PMID:25193411|PMID:25341883|PMID:25637064|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25761634|PMID:26208798|PMID:26467025|PMID:26600529|PMID:26671083|PMID:26888483|PMID:26986070|PMID:27108959|PMID:2720292|PMID:27217339|PMID:27993330|PMID:28240257|PMID:28396731|PMID:28492532|PMID:28736820|PMID:29691679|PMID:29758562|PMID:29907907|PMID:29934652|PMID:29980238|PMID:30008475|PMID:30666337|PMID:30773365|PMID:30778698|PMID:30780198|PMID:30919572|PMID:31227335|PMID:31236401|PMID:31589614|PMID:31594988|PMID:31630374|PMID:32488064|PMID:32860008|PMID:32989326|PMID:33057194|PMID:33528536|PMID:34546351|PMID:34782662|PMID:34808209|PMID:34983064|PMID:35586607|PMID:36109173|PMID:37152446|PMID:37712079|PMID:4684346|PMID:8981948|PMID:9246006|PMID:9536098
1359232	Atl1	atlastin GTPase 1	gene	DOID:10907	microcephaly		ISO	RGD:1352093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19423133|PMID:25741868|PMID:26633542|PMID:28492532
1359232	Atl1	atlastin GTPase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359232	Atl1	atlastin GTPase 1	gene	DOID:1115	sarcoma		ISO	RGD:1352093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359232	Atl1	atlastin GTPase 1	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1352093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:25741868
1359232	Atl1	atlastin GTPase 1	gene	DOID:1324	lung cancer		ISO	RGD:1352093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359232	Atl1	atlastin GTPase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1352093	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Depression	PMID:21336785|PMID:22581552|PMID:23334294|PMID:25341883|PMID:25741868|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30780198|PMID:31227335|PMID:31630374|PMID:34546351|PMID:34808209
1359232	Atl1	atlastin GTPase 1	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1352093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:15184642|PMID:16401858|PMID:19459885|PMID:20862796|PMID:20932283|PMID:21220294|PMID:21494555|PMID:23483706|PMID:24417445|PMID:24451228|PMID:25741868|PMID:26467025|PMID:26671083|PMID:27108959|PMID:27217339|PMID:28492532|PMID:30780198|PMID:31594988|PMID:37152446|PMID:4684346
1359232	Atl1	atlastin GTPase 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1352093	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:21336785|PMID:22581552|PMID:23334294|PMID:25341883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30780198|PMID:30919572|PMID:31227335|PMID:31630374|PMID:34546351|PMID:34808209
1359232	Atl1	atlastin GTPase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352093	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359232	Atl1	atlastin GTPase 1	gene	DOID:543	dystonia		ISO	RGD:1352093	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:15184642|PMID:16401858|PMID:19459885|PMID:20862796|PMID:20932283|PMID:21220294|PMID:21494555|PMID:23483706|PMID:24417445|PMID:24451228|PMID:25741868|PMID:26467025|PMID:26671083|PMID:27108959|PMID:27217339|PMID:28492532|PMID:30780198|PMID:31594988|PMID:37152446|PMID:4684346
1359232	Atl1	atlastin GTPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1359232	Atl1	atlastin GTPase 1	gene	DOID:607	paraplegia		ISO	RGD:1352093	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia | ClinVar Annotator: match by term: spastic paraplegia	PMID:15184642|PMID:16401858|PMID:19459885|PMID:20862796|PMID:20932283|PMID:21220294|PMID:21494555|PMID:23483706|PMID:24417445|PMID:24451228|PMID:25741868|PMID:26467025|PMID:26671083|PMID:27108959|PMID:27217339|PMID:28492532|PMID:30780198|PMID:31594988|PMID:37152446|PMID:4684346
1359232	Atl1	atlastin GTPase 1	gene	DOID:630	genetic disease		ISO	RGD:1352093	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15184642|PMID:16401858|PMID:16537571|PMID:19459885|PMID:19768483|PMID:20718791|PMID:20862796|PMID:20932283|PMID:21194679|PMID:21220294|PMID:21336785|PMID:21494555|PMID:22581552|PMID:23334294|PMID:23483706|PMID:23664116|PMID:24417445|PMID:24451228|PMID:24473461|PMID:25341883|PMID:25741868|PMID:25761634|PMID:26467025|PMID:26671083|PMID:26888483|PMID:27108959|PMID:27217339|PMID:28240257|PMID:28396731|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30666337|PMID:30773365|PMID:30780198|PMID:31227335|PMID:31594988|PMID:31630374|PMID:32860008|PMID:34546351|PMID:34808209|PMID:35499206|PMID:36109173|PMID:37152446|PMID:4684346
1359232	Atl1	atlastin GTPase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359232	Atl1	atlastin GTPase 1	gene	DOID:9000704	Lingual Thyroids		ISO	RGD:1352093	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lingual thyroid	PMID:32989326
1359232	Atl1	atlastin GTPase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1352093	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1359232	Atl1	atlastin GTPase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359232	Atl1	atlastin GTPase 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1352093	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:15184642|PMID:16401858|PMID:19459885|PMID:20862796|PMID:20932283|PMID:21220294|PMID:21494555|PMID:23483706|PMID:24417445|PMID:24451228|PMID:25741868|PMID:26467025|PMID:26671083|PMID:27108959|PMID:27217339|PMID:28492532|PMID:30780198|PMID:31594988|PMID:37152446|PMID:4684346
1359232	Atl1	atlastin GTPase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1352093	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:21336785|PMID:22581552|PMID:23334294|PMID:25341883|PMID:25741868|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30780198|PMID:31227335|PMID:31630374|PMID:34546351|PMID:34808209
1359232	Atl1	atlastin GTPase 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1352093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868
1359232	Atl1	atlastin GTPase 1	gene	DOID:9834	hyperopia		ISO	RGD:1352093	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:21336785|PMID:22581552|PMID:23334294|PMID:25341883|PMID:25741868|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30780198|PMID:31227335|PMID:31630374|PMID:34546351|PMID:34808209
1359232	Atl1	atlastin GTPase 1	gene	DOID:9970	obesity		ISO	RGD:1352093	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:21336785|PMID:22581552|PMID:23334294|PMID:25341883|PMID:25741868|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30780198|PMID:31227335|PMID:31630374|PMID:34546351|PMID:34808209
1359234	Zc3h15	zinc finger CCCH-type containing 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359234	Zc3h15	zinc finger CCCH-type containing 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359234	Zc3h15	zinc finger CCCH-type containing 15	gene	DOID:10534	stomach cancer		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359234	Zc3h15	zinc finger CCCH-type containing 15	gene	DOID:1115	sarcoma		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359234	Zc3h15	zinc finger CCCH-type containing 15	gene	DOID:4362	cervical cancer		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359234	Zc3h15	zinc finger CCCH-type containing 15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359234	Zc3h15	zinc finger CCCH-type containing 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359234	Zc3h15	zinc finger CCCH-type containing 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359234	Zc3h15	zinc finger CCCH-type containing 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:0060058	lymphoma		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:0080600	COVID-19		ISO	RGD:1605694	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:1115	sarcoma		ISO	RGD:1605694	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:1324	lung cancer		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:1909	melanoma		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:3275	thymoma		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359236	Pdia5	protein disulfide isomerase family A, member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359237	Myg1	MYG1 exonuclease	gene	DOID:1909	melanoma		ISO	RGD:1350875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359237	Myg1	MYG1 exonuclease	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359237	Myg1	MYG1 exonuclease	gene	DOID:5041	esophageal cancer		ISO	RGD:1350875	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359237	Myg1	MYG1 exonuclease	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359237	Myg1	MYG1 exonuclease	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359237	Myg1	MYG1 exonuclease	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1350875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1359237	Myg1	MYG1 exonuclease	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359237	Myg1	MYG1 exonuclease	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359238	Hcst	hematopoietic cell signal transducer	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359238	Hcst	hematopoietic cell signal transducer	gene	DOID:10534	stomach cancer		ISO	RGD:1350033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359238	Hcst	hematopoietic cell signal transducer	gene	DOID:1909	melanoma		ISO	RGD:1350033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359238	Hcst	hematopoietic cell signal transducer	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350033	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359238	Hcst	hematopoietic cell signal transducer	gene	DOID:4362	cervical cancer		ISO	RGD:1350033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359238	Hcst	hematopoietic cell signal transducer	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359239	Serpina11	serpin family A member 11	gene	DOID:118	pericardial effusion		ISO	RGD:1345910	D	RGD:8554872	20191210	ClinVar		ClinVar Annotator: match by term: Pericardial effusion	PMID:25741868
1359239	Serpina11	serpin family A member 11	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1345910	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	
1359239	Serpina11	serpin family A member 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:0070168	spermatogenic failure 3	susceptibility	ISO	RGD:1342668	D	RGD:11039404|PMID:24661730	20160302	RGD		DNA:snp:intron:g.IVS2+305T>C (rs6103330) (human)	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1342668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:1115	sarcoma		ISO	RGD:1342668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:12858	Huntington's disease		ISO	RGD:1342668	D	RGD:11039484|PMID:25038828	20160304	RGD		protein:increased expression:striatum (human)	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:1342668	D	RGD:11039452|PMID:21309690	20160303	RGD		DNA:snp:exon:p.P281P (rs2235611) (human)	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:1324	lung cancer		ISO	RGD:1342668	D	RGD:11039482|PMID:23132731	20160304	RGD		mRNA:increased expression:lung (human)	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:1909	melanoma		ISO	RGD:1342668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342668	D	RGD:11039405|PMID:9865741	20160304	RGD		mRNA:decreased expression:colon mucosa (human)	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:3070	high grade glioma		ISO	RGD:1342668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:4159	skin cancer		ISO	RGD:1342668	D	RGD:11039481|PMID:24440982	20160304	RGD		protein:increased expression:skin (human)	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:4362	cervical cancer		ISO	RGD:1342668	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342668	D	RGD:11039407|PMID:21082031	20160303	RGD		mRNA:altered expression:kidney (human)	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1342668	D	RGD:11039469|PMID:23748175	20160304	RGD		associated with Ovarian Neoplasms;mRNA:increased expression:epithelium of female gonad (human)	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:9006285	Epidermal Hyperplasia		ISO	RGD:1342668	D	RGD:11039481|PMID:24440982	20160304	RGD		human gene in a mouse model	
1359241	Srsf6	serine and arginine rich splicing factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:1115	sarcoma		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:11830	myopia		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:1324	lung cancer		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:1909	melanoma		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:2841	asthma		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:3275	thymoma		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1602704	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602704	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1359242	Ankzf1	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359243	Mtg2	mitochondrial ribosome-associated GTPase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359243	Mtg2	mitochondrial ribosome-associated GTPase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359243	Mtg2	mitochondrial ribosome-associated GTPase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1344224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359243	Mtg2	mitochondrial ribosome-associated GTPase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344224	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359243	Mtg2	mitochondrial ribosome-associated GTPase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359243	Mtg2	mitochondrial ribosome-associated GTPase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359243	Mtg2	mitochondrial ribosome-associated GTPase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359243	Mtg2	mitochondrial ribosome-associated GTPase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359244	Lyl1	LYL1, basic helix-loop-helix family member	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1343769	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16094422
1359244	Lyl1	LYL1, basic helix-loop-helix family member	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359244	Lyl1	LYL1, basic helix-loop-helix family member	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1343769	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:3162254
1359244	Lyl1	LYL1, basic helix-loop-helix family member	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1343769	D	RGD:7240710	20200325	OMIM			
1359244	Lyl1	LYL1, basic helix-loop-helix family member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359244	Lyl1	LYL1, basic helix-loop-helix family member	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359244	Lyl1	LYL1, basic helix-loop-helix family member	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343769	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16094422
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:23631824|PMID:25473036|PMID:25741868|PMID:26345448|PMID:28492532
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1350455	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY | ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: NADH:Q(1) OXIDOREDUCTASE DEFICIENCY	PMID:17576681|PMID:19073330|PMID:20818383|PMID:23562761|PMID:24642831|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27290639|PMID:28492532|PMID:31019026|PMID:31687339|PMID:32020600|PMID:32123317|PMID:32180488|PMID:32348839|PMID:33182419|PMID:34645491|PMID:34740920|PMID:35482246|PMID:36462614|PMID:36757698|PMID:36896486|PMID:40919011|PMID:9536098
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:0111618	autosomal recessive spinocerebellar ataxia 8		ISO	RGD:1350455	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia	PMID:10080174|PMID:22644603|PMID:25326637|PMID:25741868|PMID:26345448|PMID:28492532|PMID:30090137|PMID:31665838|PMID:33083013|PMID:34716721
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1350455	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:19073330|PMID:20818383|PMID:23562761|PMID:24642831|PMID:25741868|PMID:26024641|PMID:26345448|PMID:28492532|PMID:32180488|PMID:33182419|PMID:35482246|PMID:40919011
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:0112082	nuclear type mitochondrial complex I deficiency 4		ISO	RGD:1350455	D	RGD:7240710	20190315	OMIM			
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:0112082	nuclear type mitochondrial complex I deficiency 4		ISO	RGD:1350455	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency nuclear type 4 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 4 | ClinVar Annotator: match by term: NDUFV1-related condition	PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:19073330|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23266820|PMID:23334465|PMID:23562761|PMID:23596069|PMID:23631824|PMID:25473036|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27290639|PMID:27344648|PMID:28454995|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:30770271|PMID:31589614|PMID:31665838|PMID:32020600|PMID:32180488|PMID:32445240|PMID:33083013|PMID:33182419|PMID:33258288|PMID:33533527|PMID:34052969|PMID:34134969|PMID:34645491|PMID:34716721|PMID:34807224|PMID:34906502|PMID:35482023|PMID:35482246|PMID:35586607|PMID:35598585|PMID:36462614|PMID:37597066|PMID:38129218|PMID:38703036|PMID:9536098
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:10534	stomach cancer		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:1059	intellectual disability		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:1115	sarcoma		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:12849	autistic disorder		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:1324	lung cancer		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868|PMID:27290639|PMID:28492532|PMID:32020600|PMID:36462614
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:1826	epilepsy		ISO	RGD:1350455	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:23631824|PMID:25473036|PMID:25741868|PMID:26345448|PMID:28492532
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:3070	high grade glioma		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:3652	Leigh disease		ISO	RGD:1350455	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease	PMID:10080174|PMID:11349233|PMID:14662656|PMID:15576045|PMID:22644603|PMID:23334465|PMID:23596069|PMID:23631824|PMID:25473036|PMID:25615419|PMID:25741868|PMID:26345448|PMID:27344648|PMID:28492532|PMID:30090137|PMID:32445240|PMID:33258288|PMID:34052969|PMID:34807224|PMID:35482023|PMID:35598585|PMID:37597066|PMID:38129218
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:4362	cervical cancer		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350455	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:33533527
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:630	genetic disease		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10080174|PMID:11349233|PMID:20153825|PMID:25741868|PMID:28492532|PMID:35482246
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:630	genetic disease		ISO	RGD:1350455	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10080174|PMID:11349233|PMID:20153825|PMID:25741868|PMID:28492532|PMID:33533527|PMID:35482246|PMID:40919011
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:8398	osteoarthritis		ISO	RGD:1350455	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1350455	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:9000918	Disease Progression		ISO	RGD:1350455	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:9004866	Ataxia		ISO	RGD:1350455	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:23631824|PMID:25473036|PMID:25741868|PMID:26345448|PMID:28492532
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10080174|PMID:22644603|PMID:23631824|PMID:25473036|PMID:25741868|PMID:26345448|PMID:28492532|PMID:30090137|PMID:31665838|PMID:33083013|PMID:34716721
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350455	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:23631824|PMID:25473036|PMID:25741868|PMID:26345448|PMID:28492532
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:10080174|PMID:14662656|PMID:15576045|PMID:25741868|PMID:26345448|PMID:28492532|PMID:37597066|PMID:38129218
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:9007722	Myoclonus		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:23631824|PMID:25473036|PMID:25741868|PMID:26345448|PMID:28492532
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350455	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23631824|PMID:25473036|PMID:25741868|PMID:26345448|PMID:28492532
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:9008617	Lethargy		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:23631824|PMID:25473036|PMID:25741868|PMID:26345448|PMID:28492532
1359247	Ndufv1	NADH:ubiquinone oxidoreductase core subunit V1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1359249	Lzts2	leucine zipper tumor suppressor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359249	Lzts2	leucine zipper tumor suppressor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359249	Lzts2	leucine zipper tumor suppressor 2	gene	DOID:18	urinary system disease		ISS	RGD:1552566	D	RGD:13592920	20180518	MouseDO			
1359249	Lzts2	leucine zipper tumor suppressor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359249	Lzts2	leucine zipper tumor suppressor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359249	Lzts2	leucine zipper tumor suppressor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359250	Ccdc7b	coiled-coil domain containing 7B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359250	Ccdc7b	coiled-coil domain containing 7B	gene	DOID:0060058	lymphoma		ISO	RGD:1346795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359250	Ccdc7b	coiled-coil domain containing 7B	gene	DOID:10534	stomach cancer		ISO	RGD:1346795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359250	Ccdc7b	coiled-coil domain containing 7B	gene	DOID:1115	sarcoma		ISO	RGD:1346795	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359250	Ccdc7b	coiled-coil domain containing 7B	gene	DOID:1909	melanoma		ISO	RGD:1346795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359250	Ccdc7b	coiled-coil domain containing 7B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359250	Ccdc7b	coiled-coil domain containing 7B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359250	Ccdc7b	coiled-coil domain containing 7B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359250	Ccdc7b	coiled-coil domain containing 7B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1346795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1359250	Ccdc7b	coiled-coil domain containing 7B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359250	Ccdc7b	coiled-coil domain containing 7B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359250	Ccdc7b	coiled-coil domain containing 7B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359250	Ccdc7b	coiled-coil domain containing 7B	gene	DOID:9256	colorectal cancer		ISO	RGD:1346795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359251	Txndc2	thioredoxin domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359252	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359252	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359252	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359252	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:3275	thymoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359252	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359252	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359252	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359252	Katnal1	katanin catalytic subunit A1 like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359253	Ttc9c	tetratricopeptide repeat domain 9C	gene	DOID:3275	thymoma		ISO	RGD:1601809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359253	Ttc9c	tetratricopeptide repeat domain 9C	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1601809	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1359253	Ttc9c	tetratricopeptide repeat domain 9C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359254	Vps26a	VPS26 retromer complex component A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359254	Vps26a	VPS26 retromer complex component A	gene	DOID:10534	stomach cancer		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359254	Vps26a	VPS26 retromer complex component A	gene	DOID:1324	lung cancer		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359254	Vps26a	VPS26 retromer complex component A	gene	DOID:1909	melanoma		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359254	Vps26a	VPS26 retromer complex component A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359254	Vps26a	VPS26 retromer complex component A	gene	DOID:5041	esophageal cancer		ISO	RGD:1343417	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359254	Vps26a	VPS26 retromer complex component A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359254	Vps26a	VPS26 retromer complex component A	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:1343417	D	RGD:401850599|PMID:28821857	20231024	RGD		DNA:SNP:: (rs1802295) (Human)	
1359254	Vps26a	VPS26 retromer complex component A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359254	Vps26a	VPS26 retromer complex component A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359254	Vps26a	VPS26 retromer complex component A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359254	Vps26a	VPS26 retromer complex component A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343417	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21874001
1359254	Vps26a	VPS26 retromer complex component A	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1343417	D	RGD:401850598|PMID:27281273	20231024	RGD		associated with Environmental Illness;DNA:SNP:: (rs12242953) (human)	
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1350086	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	PMID:25741868|PMID:26924529|PMID:28218388|PMID:28492532|PMID:30327447|PMID:32160656|PMID:33931933
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1350086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:14717	centronuclear myopathy		ISO	RGD:1350086	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Myotubular myopathy	PMID:25741868|PMID:28492532|PMID:30327447
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1350086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1350086	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:26924529|PMID:28218388|PMID:28492532|PMID:30327447|PMID:32160656|PMID:33931933
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:423	myopathy		ISO	RGD:1350086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1350086	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:9002589	Bone Fractures		ISO	RGD:1350086	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868|PMID:26924529|PMID:28218388|PMID:28492532|PMID:30327447|PMID:32160656|PMID:33931933
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:1350086	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	PMID:25741868|PMID:26924529|PMID:28218388|PMID:28492532|PMID:30327447|PMID:32160656|PMID:33931933
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:9007555	Spinal Muscular Atrophy with Congenital Bone Fractures 2		ISO	RGD:1350086	D	RGD:7240710	20190315	OMIM			
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:9007555	Spinal Muscular Atrophy with Congenital Bone Fractures 2		ISO	RGD:1350086	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 | ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2	PMID:16199547|PMID:25741868|PMID:26924529|PMID:28218388|PMID:28492532|PMID:28749478|PMID:30327447|PMID:31880396|PMID:32160656|PMID:33931933|PMID:34302381|PMID:35338657|PMID:37644014
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1350086	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1350086	D	RGD:7240710	20141015	OMIM			
1359255	Ascc1	activating signal cointegrator 1 complex subunit 1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1350086	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ASCC1-related condition | ClinVar Annotator: match by term: BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA | ClinVar Annotator: match by term: Barrett esophagus	PMID:25741868|PMID:26924529|PMID:28218388|PMID:28492532|PMID:30327447|PMID:32160656|PMID:33931933
1359256	Kiaa1191	KIAA1191 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359256	Kiaa1191	KIAA1191 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359256	Kiaa1191	KIAA1191 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1601743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359256	Kiaa1191	KIAA1191 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359256	Kiaa1191	KIAA1191 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359256	Kiaa1191	KIAA1191 homolog	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1359256	Kiaa1191	KIAA1191 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359259	Zfp219	zinc finger protein 219	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359259	Zfp219	zinc finger protein 219	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359259	Zfp219	zinc finger protein 219	gene	DOID:10534	stomach cancer		ISO	RGD:1347695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359259	Zfp219	zinc finger protein 219	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359259	Zfp219	zinc finger protein 219	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359259	Zfp219	zinc finger protein 219	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359260	Xkr9	XK related 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359260	Xkr9	XK related 9	gene	DOID:10534	stomach cancer		ISO	RGD:1604439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359260	Xkr9	XK related 9	gene	DOID:1909	melanoma		ISO	RGD:1604439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359260	Xkr9	XK related 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1604439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359260	Xkr9	XK related 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359260	Xkr9	XK related 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359261	Map3k11	mitogen-activated protein kinase kinase kinase 11	gene	DOID:1324	lung cancer		ISO	RGD:1347603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359261	Map3k11	mitogen-activated protein kinase kinase kinase 11	gene	DOID:3275	thymoma		ISO	RGD:1347603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359261	Map3k11	mitogen-activated protein kinase kinase kinase 11	gene	DOID:4362	cervical cancer		ISO	RGD:1347603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359261	Map3k11	mitogen-activated protein kinase kinase kinase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359261	Map3k11	mitogen-activated protein kinase kinase kinase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359261	Map3k11	mitogen-activated protein kinase kinase kinase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359262	Kyat3	kynurenine aminotransferase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359262	Kyat3	kynurenine aminotransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359262	Kyat3	kynurenine aminotransferase 3	gene	DOID:1324	lung cancer		ISO	RGD:1606260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359262	Kyat3	kynurenine aminotransferase 3	gene	DOID:1909	melanoma		ISO	RGD:1606260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359262	Kyat3	kynurenine aminotransferase 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1606260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359262	Kyat3	kynurenine aminotransferase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359262	Kyat3	kynurenine aminotransferase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359262	Kyat3	kynurenine aminotransferase 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1359262	Kyat3	kynurenine aminotransferase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359262	Kyat3	kynurenine aminotransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359262	Kyat3	kynurenine aminotransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359262	Kyat3	kynurenine aminotransferase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359264	Gphb5	glycoprotein hormone subunit beta 5	gene	DOID:1324	lung cancer		ISO	RGD:1342611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359265	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359265	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:10534	stomach cancer		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359265	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359265	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:1115	sarcoma		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359265	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359265	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359265	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359265	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359265	Gmcl1	germ cell-less 1, spermatogenesis associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359266	Pmaip1	phorbol-12-myristate-13-acetate-induced protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1347426	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1359266	Pmaip1	phorbol-12-myristate-13-acetate-induced protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1347426	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
1359266	Pmaip1	phorbol-12-myristate-13-acetate-induced protein 1	gene	DOID:303	substance-related disorder		ISO	RGD:1347426	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1359266	Pmaip1	phorbol-12-myristate-13-acetate-induced protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347426	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359266	Pmaip1	phorbol-12-myristate-13-acetate-induced protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359266	Pmaip1	phorbol-12-myristate-13-acetate-induced protein 1	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1347426	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770605
1359267	Ptbp2	polypyrimidine tract binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359267	Ptbp2	polypyrimidine tract binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359267	Ptbp2	polypyrimidine tract binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359267	Ptbp2	polypyrimidine tract binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1343835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359267	Ptbp2	polypyrimidine tract binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1343835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359267	Ptbp2	polypyrimidine tract binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359267	Ptbp2	polypyrimidine tract binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343835	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359267	Ptbp2	polypyrimidine tract binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359267	Ptbp2	polypyrimidine tract binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359267	Ptbp2	polypyrimidine tract binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359267	Ptbp2	polypyrimidine tract binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359268	Snip1	Smad nuclear interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359268	Snip1	Smad nuclear interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1605941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359268	Snip1	Smad nuclear interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359268	Snip1	Smad nuclear interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359268	Snip1	Smad nuclear interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359268	Snip1	Smad nuclear interacting protein 1	gene	DOID:6364	migraine		ISO	RGD:1605941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868|PMID:28492532
1359268	Snip1	Smad nuclear interacting protein 1	gene	DOID:9006612	Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism		ISO	RGD:1605941	D	RGD:7240710	20140911	OMIM			
1359268	Snip1	Smad nuclear interacting protein 1	gene	DOID:9006612	Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism		ISO	RGD:1605941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, CRANIOFACIAL ABNORMALITIES, AND SEIZURES | ClinVar Annotator: match by term: Psychomotor retardation, epilepsy, and craniofacial dysmorphism | ClinVar Annotator: match by term: SNIP1-related condition	PMID:22279524|PMID:25741868|PMID:28492532|PMID:34570759
1359269	Cabp7	calcium binding protein 7	gene	DOID:1909	melanoma		ISO	RGD:1348796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359270	Alx3	ALX homeobox 3	gene	DOID:0080074	neural tube defect		ISO	RGD:1352384	D	RGD:11554173	20200805	CTD		CTD Direct Evidence: marker/mechanism	PMID:20534379
1359270	Alx3	ALX homeobox 3	gene	DOID:0081044	frontonasal dysplasia		ISO	RGD:1352384	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:19409524
1359270	Alx3	ALX homeobox 3	gene	DOID:0081044	frontonasal dysplasia		ISO	RGD:1352384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontorhiny	PMID:25741868
1359270	Alx3	ALX homeobox 3	gene	DOID:0081045	frontonasal dysplasia 1		ISO	RGD:1352384	D	RGD:7240710	20130221	OMIM			
1359270	Alx3	ALX homeobox 3	gene	DOID:0081045	frontonasal dysplasia 1		ISO	RGD:1352384	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALX3-related condition | ClinVar Annotator: match by term: FRONTONASAL DYSPLASIA 1	PMID:19409524|PMID:28492532
1359270	Alx3	ALX homeobox 3	gene	DOID:1324	lung cancer		ISO	RGD:1352384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359270	Alx3	ALX homeobox 3	gene	DOID:1909	melanoma		ISO	RGD:1352384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359270	Alx3	ALX homeobox 3	gene	DOID:630	genetic disease		ISO	RGD:1352384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1359271	Metrnl	meteorin-like, glial cell differentiation regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359271	Metrnl	meteorin-like, glial cell differentiation regulator	gene	DOID:10603	glucose intolerance		ISO	RGD:1348183	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: therapeutic	PMID:30213948
1359271	Metrnl	meteorin-like, glial cell differentiation regulator	gene	DOID:1115	sarcoma		ISO	RGD:1348183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359271	Metrnl	meteorin-like, glial cell differentiation regulator	gene	DOID:1324	lung cancer		ISO	RGD:1348183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359271	Metrnl	meteorin-like, glial cell differentiation regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359271	Metrnl	meteorin-like, glial cell differentiation regulator	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348183	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359271	Metrnl	meteorin-like, glial cell differentiation regulator	gene	DOID:9004657	Weight Gain		ISO	RGD:1348183	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: therapeutic	PMID:30213948
1359271	Metrnl	meteorin-like, glial cell differentiation regulator	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1348183	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: therapeutic	PMID:30213948
1359272	Krt4	keratin 4	gene	DOID:0050448	white sponge nevus		ISO	RGD:1342912	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	
1359272	Krt4	keratin 4	gene	DOID:0050448	white sponge nevus		ISS	RGD:1553546	D	RGD:13592920	20230718	MouseDO			
1359272	Krt4	keratin 4	gene	DOID:0081287	white sponge nevus 1		ISO	RGD:1342912	D	RGD:7240710	20230201	OMIM			
1359272	Krt4	keratin 4	gene	DOID:0081287	white sponge nevus 1		ISO	RGD:1342912	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KRT4-related disorder | ClinVar Annotator: match by term: WHITE SPONGE NEVUS 1 | ClinVar Annotator: match by term: White sponge nevus 1	PMID:25741868|PMID:28492532
1359272	Krt4	keratin 4	gene	DOID:1324	lung cancer		ISO	RGD:1342912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359272	Krt4	keratin 4	gene	DOID:2773	contact dermatitis		ISO	RGD:1342912	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1359272	Krt4	keratin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1342912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359272	Krt4	keratin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359272	Krt4	keratin 4	gene	DOID:630	genetic disease		ISO	RGD:1342912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1359272	Krt4	keratin 4	gene	DOID:9007168	Genetic Skin Diseases	susceptibility	ISO	RGD:1342912	D	RGD:1600193|PMID:7493030	20070302	RGD		DNA:deletion: ; white sponge nevus, OMIM:193900	
1359273	Cldnd1	claudin domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359273	Cldnd1	claudin domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1349033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359273	Cldnd1	claudin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359275	Fam228a	family with sequence similarity 228, member A	gene	DOID:10534	stomach cancer		ISO	RGD:2303337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359275	Fam228a	family with sequence similarity 228, member A	gene	DOID:3275	thymoma		ISO	RGD:2303337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359276	Krt82	keratin 82	gene	DOID:1115	sarcoma		ISO	RGD:1350237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359276	Krt82	keratin 82	gene	DOID:5041	esophageal cancer		ISO	RGD:1350237	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359277	Smpdl3a	sphingomyelin phosphodiesterase, acid-like 3A	gene	DOID:10534	stomach cancer		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359277	Smpdl3a	sphingomyelin phosphodiesterase, acid-like 3A	gene	DOID:1115	sarcoma		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359277	Smpdl3a	sphingomyelin phosphodiesterase, acid-like 3A	gene	DOID:1324	lung cancer		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359277	Smpdl3a	sphingomyelin phosphodiesterase, acid-like 3A	gene	DOID:289	endometriosis		ISO	RGD:1347939	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1359277	Smpdl3a	sphingomyelin phosphodiesterase, acid-like 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359277	Smpdl3a	sphingomyelin phosphodiesterase, acid-like 3A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359277	Smpdl3a	sphingomyelin phosphodiesterase, acid-like 3A	gene	DOID:5041	esophageal cancer		ISO	RGD:1347939	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359277	Smpdl3a	sphingomyelin phosphodiesterase, acid-like 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359277	Smpdl3a	sphingomyelin phosphodiesterase, acid-like 3A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1359277	Smpdl3a	sphingomyelin phosphodiesterase, acid-like 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:10534	stomach cancer		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:1347233	D	RGD:13504714|PMID:17270658	20180118	RGD			
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:1347233	D	RGD:13504715|PMID:11830526	20180118	RGD			
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:8634	prostate carcinoma in situ	severity	ISO	RGD:1347233	D	RGD:13504714|PMID:17270658	20180118	RGD			
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347233	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1347233	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359278	Creb3l4	cAMP responsive element binding protein 3-like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359280	Ccdc86	coiled-coil domain containing 86	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1604295	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23828858
1359281	Golph3l	golgi phosphoprotein 3-like	gene	DOID:1909	melanoma		ISO	RGD:1347625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359281	Golph3l	golgi phosphoprotein 3-like	gene	DOID:3275	thymoma		ISO	RGD:1347625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359281	Golph3l	golgi phosphoprotein 3-like	gene	DOID:4362	cervical cancer		ISO	RGD:1347625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359281	Golph3l	golgi phosphoprotein 3-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1347625	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359281	Golph3l	golgi phosphoprotein 3-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359282	Fcmr	Fc mu receptor	gene	DOID:0080600	COVID-19		ISO	RGD:1603318	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:memory B cells (human)	PMID:32377375|REF_RGD_ID:32716422
1359282	Fcmr	Fc mu receptor	gene	DOID:1115	sarcoma		ISO	RGD:1603318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359282	Fcmr	Fc mu receptor	gene	DOID:3275	thymoma		ISO	RGD:1603318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359282	Fcmr	Fc mu receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359282	Fcmr	Fc mu receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359282	Fcmr	Fc mu receptor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1603318	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1359283	Chpt1	choline phosphotransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359283	Chpt1	choline phosphotransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359283	Chpt1	choline phosphotransferase 1	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1349185	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16292752
1359283	Chpt1	choline phosphotransferase 1	gene	DOID:3343	glycoproteinosis		ISO	RGD:1349185	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy	PMID:16200072|PMID:16465621|PMID:16630736|PMID:19634183|PMID:25741868|PMID:27662472|PMID:28492532
1359283	Chpt1	choline phosphotransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359283	Chpt1	choline phosphotransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349185	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359283	Chpt1	choline phosphotransferase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1349185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1359283	Chpt1	choline phosphotransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359283	Chpt1	choline phosphotransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359284	Nudt5	nudix hydrolase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1345366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359284	Nudt5	nudix hydrolase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359284	Nudt5	nudix hydrolase 5	gene	DOID:1324	lung cancer		ISO	RGD:1345366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359284	Nudt5	nudix hydrolase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1345366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359284	Nudt5	nudix hydrolase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359284	Nudt5	nudix hydrolase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359289	Mrpl24	mitochondrial ribosomal protein L24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359289	Mrpl24	mitochondrial ribosomal protein L24	gene	DOID:0060058	lymphoma		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359289	Mrpl24	mitochondrial ribosomal protein L24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359289	Mrpl24	mitochondrial ribosomal protein L24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359289	Mrpl24	mitochondrial ribosomal protein L24	gene	DOID:6039	uveal melanoma		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1359289	Mrpl24	mitochondrial ribosomal protein L24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359289	Mrpl24	mitochondrial ribosomal protein L24	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359289	Mrpl24	mitochondrial ribosomal protein L24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359293	Glt8d1	glycosyltransferase 8 domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359293	Glt8d1	glycosyltransferase 8 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359293	Glt8d1	glycosyltransferase 8 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1348884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359293	Glt8d1	glycosyltransferase 8 domain containing 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1348884	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
1359293	Glt8d1	glycosyltransferase 8 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359293	Glt8d1	glycosyltransferase 8 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359293	Glt8d1	glycosyltransferase 8 domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1348884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1359293	Glt8d1	glycosyltransferase 8 domain containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348884	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359293	Glt8d1	glycosyltransferase 8 domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1359293	Glt8d1	glycosyltransferase 8 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359293	Glt8d1	glycosyltransferase 8 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359293	Glt8d1	glycosyltransferase 8 domain containing 1	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1348884	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	
1359295	Rsl1d1	ribosomal L1 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1350657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359295	Rsl1d1	ribosomal L1 domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1350657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359295	Rsl1d1	ribosomal L1 domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1350657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359295	Rsl1d1	ribosomal L1 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350657	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359295	Rsl1d1	ribosomal L1 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359295	Rsl1d1	ribosomal L1 domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359295	Rsl1d1	ribosomal L1 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359295	Rsl1d1	ribosomal L1 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:13610798	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autism	PMID:18414213
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346298	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359296	Wdsub1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359297	Mapre3	microtubule-associated protein, RP/EB family, member 3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1343455	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1359297	Mapre3	microtubule-associated protein, RP/EB family, member 3	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1343455	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1359297	Mapre3	microtubule-associated protein, RP/EB family, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359298	Clec4e	C-type lectin domain family 4, member E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359298	Clec4e	C-type lectin domain family 4, member E	gene	DOID:10534	stomach cancer		ISO	RGD:1344050	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359298	Clec4e	C-type lectin domain family 4, member E	gene	DOID:1115	sarcoma		ISO	RGD:1344050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359298	Clec4e	C-type lectin domain family 4, member E	gene	DOID:1909	melanoma		ISO	RGD:1344050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359298	Clec4e	C-type lectin domain family 4, member E	gene	DOID:850	lung disease		ISO	RGD:1344050	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21602193
1359298	Clec4e	C-type lectin domain family 4, member E	gene	DOID:9000998	Brain Injuries		ISO	RGD:1344050	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
1359298	Clec4e	C-type lectin domain family 4, member E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359301	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359301	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:1115	sarcoma		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359301	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:1324	lung cancer		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359301	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:1909	melanoma		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359301	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359301	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:4362	cervical cancer		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359301	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359301	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359301	Ghitm	growth hormone inducible transmembrane protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359303	Armcx6	armadillo repeat containing, X-linked 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359303	Armcx6	armadillo repeat containing, X-linked 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359304	Arhgap15	Rho GTPase activating protein 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359304	Arhgap15	Rho GTPase activating protein 15	gene	DOID:0060058	lymphoma		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359304	Arhgap15	Rho GTPase activating protein 15	gene	DOID:10534	stomach cancer		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359304	Arhgap15	Rho GTPase activating protein 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359304	Arhgap15	Rho GTPase activating protein 15	gene	DOID:1324	lung cancer		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359304	Arhgap15	Rho GTPase activating protein 15	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359304	Arhgap15	Rho GTPase activating protein 15	gene	DOID:4362	cervical cancer		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359304	Arhgap15	Rho GTPase activating protein 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1348610	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359304	Arhgap15	Rho GTPase activating protein 15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359304	Arhgap15	Rho GTPase activating protein 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359304	Arhgap15	Rho GTPase activating protein 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359304	Arhgap15	Rho GTPase activating protein 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:10376	amblyopia		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:10534	stomach cancer		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:1059	intellectual disability		ISO	RGD:1348717	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:1115	sarcoma		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:11830	myopia		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:12849	autistic disorder		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:1909	melanoma		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:2773	contact dermatitis		ISO	RGD:1348717	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:3070	high grade glioma		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:4362	cervical cancer		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:630	genetic disease		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:35080150|PMID:36413997|PMID:39641441
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:8927	learning disability		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:9001224	Striae Distensae		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:9003816	Macrocephaly		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348717	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:9006298	Stankiewicz-Isidor Syndrome		ISO	RGD:1348717	D	RGD:7240710	20190315	OMIM			
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:9006298	Stankiewicz-Isidor Syndrome		ISO	RGD:1348717	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PSMD12-related condition | ClinVar Annotator: match by term: STANKIEWICZ-ISIDOR SYNDROME | ClinVar Annotator: match by term: Stankiewicz-Isidor syndrome	PMID:25741868|PMID:28132691|PMID:34906456
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359305	Psmd12	proteasome 26S subunit, non-ATPase 12	gene	DOID:9970	obesity		ISO	RGD:1348717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1359307	Septin10	septin 10	gene	DOID:0080600	COVID-19		ISO	RGD:1606447	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1359308	Marchf3	membrane associated ring-CH-type finger 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359308	Marchf3	membrane associated ring-CH-type finger 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359308	Marchf3	membrane associated ring-CH-type finger 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359308	Marchf3	membrane associated ring-CH-type finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359308	Marchf3	membrane associated ring-CH-type finger 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359308	Marchf3	membrane associated ring-CH-type finger 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359309	Adad1	adenosine deaminase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1606972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359309	Adad1	adenosine deaminase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359310	Atg101	autophagy related 101	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602213	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359310	Atg101	autophagy related 101	gene	DOID:1324	lung cancer		ISO	RGD:1602213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359310	Atg101	autophagy related 101	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1602213	D	RGD:153350092|PMID:34315829	20220907	RGD			
1359310	Atg101	autophagy related 101	gene	DOID:3070	high grade glioma		ISO	RGD:1602213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359310	Atg101	autophagy related 101	gene	DOID:4362	cervical cancer		ISO	RGD:1602213	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359310	Atg101	autophagy related 101	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1602213	D	RGD:153350091|PMID:35592424	20220907	RGD			
1359310	Atg101	autophagy related 101	gene	DOID:5041	esophageal cancer		ISO	RGD:1602213	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359310	Atg101	autophagy related 101	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359310	Atg101	autophagy related 101	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359310	Atg101	autophagy related 101	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1602213	D	RGD:153350091|PMID:35592424	20220907	RGD			
1359310	Atg101	autophagy related 101	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1602213	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
1359311	Tsku	tsukushi, small leucine rich proteoglycan	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359313	Utp14a	UTP14A small subunit processome component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359313	Utp14a	UTP14A small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359315	Maf1	MAF1 negative regulator of RNA polymerase III	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359315	Maf1	MAF1 negative regulator of RNA polymerase III	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359315	Maf1	MAF1 negative regulator of RNA polymerase III	gene	DOID:1324	lung cancer		ISO	RGD:1601952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359315	Maf1	MAF1 negative regulator of RNA polymerase III	gene	DOID:5041	esophageal cancer		ISO	RGD:1601952	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359315	Maf1	MAF1 negative regulator of RNA polymerase III	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359315	Maf1	MAF1 negative regulator of RNA polymerase III	gene	DOID:6039	uveal melanoma		ISO	RGD:1601952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1359315	Maf1	MAF1 negative regulator of RNA polymerase III	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359315	Maf1	MAF1 negative regulator of RNA polymerase III	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359317	Zfand6	zinc finger AN1-type containing 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359317	Zfand6	zinc finger AN1-type containing 6	gene	DOID:0060058	lymphoma		ISO	RGD:1345898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359317	Zfand6	zinc finger AN1-type containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1345898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359317	Zfand6	zinc finger AN1-type containing 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359317	Zfand6	zinc finger AN1-type containing 6	gene	DOID:1324	lung cancer		ISO	RGD:1345898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359317	Zfand6	zinc finger AN1-type containing 6	gene	DOID:37	skin disease		ISO	RGD:1345898	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1359317	Zfand6	zinc finger AN1-type containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1345898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359317	Zfand6	zinc finger AN1-type containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359317	Zfand6	zinc finger AN1-type containing 6	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1345898	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1359317	Zfand6	zinc finger AN1-type containing 6	gene	DOID:9008456	Delayed Emergence from Anesthesia		ISO	RGD:1345898	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16115977
1359317	Zfand6	zinc finger AN1-type containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1605894	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23354437
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1605894	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Kartagener syndrome	PMID:25741868
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:0050144	Kartagener syndrome		ISS	RGD:1617201	D	RGD:13592920	20230718	MouseDO			
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1617201	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:0070579	spermatogenic failure 80		ISO	RGD:1605894	D	RGD:7240710	20230215	OMIM			
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:0070579	spermatogenic failure 80		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 80 | ClinVar Annotator: match by term: Spermatogenic failure 80	PMID:23354437|PMID:25741868|PMID:28492532|PMID:31960620|PMID:34169321
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:0110596	primary ciliary dyskinesia 21		ISO	RGD:1605894	D	RGD:7240710	20140911	OMIM			
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:0110596	primary ciliary dyskinesia 21		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 21, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DRC1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 21 | ClinVar Annotator: match by term: primary ciliary dyskinesia 21	PMID:23354437|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31270959|PMID:31701675|PMID:31960620|PMID:34768622|PMID:39349394|PMID:39462806
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:0110596	primary ciliary dyskinesia 21		ISS	RGD:1617201	D	RGD:13592920	20230718	MouseDO		OMIM:615294	
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359318	Drc1	dynein regulatory complex subunit 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:23354437|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31040315|PMID:31213628|PMID:31270959|PMID:31701675|PMID:31960620|PMID:9536098
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1347854	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:1324	lung cancer		ISO	RGD:1347854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:1909	melanoma		ISO	RGD:1347854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1347854	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347854	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:9001488	Human Influenza		ISO	RGD:1347854	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359319	Oas3	2'-5'-oligoadenylate synthetase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359320	C11h3orf38	similar to human chromosome 3 open reading frame 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359320	C11h3orf38	similar to human chromosome 3 open reading frame 38	gene	DOID:1115	sarcoma		ISO	RGD:1602632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359320	C11h3orf38	similar to human chromosome 3 open reading frame 38	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359320	C11h3orf38	similar to human chromosome 3 open reading frame 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359321	Gnb4	G protein subunit beta 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359321	Gnb4	G protein subunit beta 4	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1348614	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1359321	Gnb4	G protein subunit beta 4	gene	DOID:0110206	Charcot-Marie-Tooth disease dominant intermediate F		ISO	RGD:1348614	D	RGD:7240710	20140911	OMIM			
1359321	Gnb4	G protein subunit beta 4	gene	DOID:0110206	Charcot-Marie-Tooth disease dominant intermediate F		ISO	RGD:1348614	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate F | ClinVar Annotator: match by term: GNB4-related condition	PMID:16199547|PMID:17576681|PMID:23434117|PMID:25741868|PMID:27549087|PMID:27908631|PMID:28492532|PMID:31211173|PMID:34071515|PMID:9536098
1359321	Gnb4	G protein subunit beta 4	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1348614	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
1359321	Gnb4	G protein subunit beta 4	gene	DOID:1324	lung cancer		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1359321	Gnb4	G protein subunit beta 4	gene	DOID:1389	polyneuropathy		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
1359321	Gnb4	G protein subunit beta 4	gene	DOID:1909	melanoma		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359321	Gnb4	G protein subunit beta 4	gene	DOID:4362	cervical cancer		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359321	Gnb4	G protein subunit beta 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359321	Gnb4	G protein subunit beta 4	gene	DOID:630	genetic disease		ISO	RGD:1348614	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359321	Gnb4	G protein subunit beta 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359321	Gnb4	G protein subunit beta 4	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1348614	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
1359321	Gnb4	G protein subunit beta 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359321	Gnb4	G protein subunit beta 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359321	Gnb4	G protein subunit beta 4	gene	DOID:9120	amyloidosis		ISO	RGD:1348614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyloidosis	PMID:25741868
1359323	Abhd6	abhydrolase domain containing 6, acylglycerol lipase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359323	Abhd6	abhydrolase domain containing 6, acylglycerol lipase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359323	Abhd6	abhydrolase domain containing 6, acylglycerol lipase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359323	Abhd6	abhydrolase domain containing 6, acylglycerol lipase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359324	Enpp7	ectonucleotide pyrophosphatase/phosphodiesterase 7	gene	DOID:10283	prostate cancer		ISO	RGD:1342953	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1359324	Enpp7	ectonucleotide pyrophosphatase/phosphodiesterase 7	gene	DOID:10283	prostate cancer		ISO	RGD:1342953	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1359324	Enpp7	ectonucleotide pyrophosphatase/phosphodiesterase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359325	Jpt1	Jupiter microtubule associated homolog 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359325	Jpt1	Jupiter microtubule associated homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359325	Jpt1	Jupiter microtubule associated homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359325	Jpt1	Jupiter microtubule associated homolog 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359326	Uxt	ubiquitously-expressed, prefoldin-like chaperone	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359326	Uxt	ubiquitously-expressed, prefoldin-like chaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359326	Uxt	ubiquitously-expressed, prefoldin-like chaperone	gene	DOID:1324	lung cancer		ISO	RGD:1347196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359326	Uxt	ubiquitously-expressed, prefoldin-like chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359326	Uxt	ubiquitously-expressed, prefoldin-like chaperone	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347196	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19318562
1359326	Uxt	ubiquitously-expressed, prefoldin-like chaperone	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359326	Uxt	ubiquitously-expressed, prefoldin-like chaperone	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:0080828	VEXAS syndrome		ISO	RGD:1604847	D	RGD:7240710	20201202	OMIM			
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:0080828	VEXAS syndrome		ISO	RGD:1604847	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: VEXAS syndrome	PMID:16199547|PMID:25741868|PMID:28492532|PMID:33108101|PMID:33690815|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445|PMID:40373178
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:0111827	X-linked spinal muscular atrophy 2		ISO	RGD:1604847	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:0111827	X-linked spinal muscular atrophy 2		ISO	RGD:1604847	D	RGD:7240710	20130221	OMIM			
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:0111827	X-linked spinal muscular atrophy 2		ISO	RGD:1604847	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, X-LINKED 2 | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile | ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2 | ClinVar Annotator: match by term: UBA1-related disorder	PMID:16199547|PMID:17576681|PMID:18179898|PMID:20301739|PMID:25075304|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29034082|PMID:32181232|PMID:33108101|PMID:33369814|PMID:33690815|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445|PMID:40373178|PMID:9536098
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:1115	sarcoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:1324	lung cancer		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:1558	angioedema		ISO	RGD:1604847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Angioedema	PMID:25741868|PMID:28492532|PMID:33108101|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1604847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532|PMID:33108101|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1604847	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:19014429
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:1909	melanoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:2361	macrocytic anemia		ISO	RGD:1604847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocytic anemia	PMID:25741868|PMID:28492532|PMID:33108101|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:3070	high grade glioma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:3275	thymoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604847	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:630	genetic disease		ISO	RGD:1604847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33108101|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:9000972	Fever		ISO	RGD:1604847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868|PMID:28492532|PMID:33108101|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:9006065	Arthralgia		ISO	RGD:1604847	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868|PMID:28492532|PMID:33108101|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1359327	Uba1	ubiquitin-like modifier activating enzyme 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359329	Pdcd10	programmed cell death 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060249	scoliosis		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:15543491|PMID:16380626|PMID:18300272|PMID:23801932|PMID:25741868|PMID:28492532
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060260	ptosis		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:15543491|PMID:16380626|PMID:18300272|PMID:23801932|PMID:25741868|PMID:28492532
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060261	congenital ptosis		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ptosis	PMID:15543491|PMID:16380626|PMID:18300272|PMID:23801932|PMID:25741868|PMID:28492532
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060320	inguinal hernia		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:15543491|PMID:16380626|PMID:18300272|PMID:23801932|PMID:25741868|PMID:28492532
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060669	cerebral cavernous malformation		ISO	RGD:1351056	D	RGD:11554173	20250708	CTD		CTD Direct Evidence: marker/mechanism	
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060669	cerebral cavernous malformation		ISO	RGD:1351056	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral cavernous malformation	PMID:15543491|PMID:18035376|PMID:18300272|PMID:23485406|PMID:23595507|PMID:23801932|PMID:25741868|PMID:26896283|PMID:28492532
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060671	cerebral cavernous malformation 3		ISO	RGD:1351056	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060671	cerebral cavernous malformation 3		ISO	RGD:1351056	D	RGD:329961304|PMID:15543491	20230720	RGD		DNA:deletions, nonsense mutations:multiple (human)	
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060671	cerebral cavernous malformation 3		ISO	RGD:1351056	D	RGD:401827102|PMID:25354366	20230920	RGD		DNA:mutations:SNPs, duplications, deletions:multiple (human)	
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060671	cerebral cavernous malformation 3		ISO	RGD:1351056	D	RGD:401827103|PMID:16284570	20230920	RGD		DNA:nonsense mutation, frameshift mutations:CDS:multiple (human)	
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060671	cerebral cavernous malformation 3		ISO	RGD:1351056	D	RGD:401827108|PMID:27737651	20230921	RGD		DNA:SNPs:promoter: (rs9853967, rs11714980) (human)	
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060671	cerebral cavernous malformation 3		ISO	RGD:1351056	D	RGD:401827173|PMID:34597987	20230926	RGD		DNA:deletion:CDS:c.506delA (human)	
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060671	cerebral cavernous malformation 3		ISO	RGD:1351056	D	RGD:7240710	20130425	OMIM			
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060671	cerebral cavernous malformation 3		ISO	RGD:1351056	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEREBRAL CAVERNOUS MALFORMATIONS 3 | ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3 | ClinVar Annotator: match by term: PDCD10-related disorder	PMID:15543491|PMID:16199547|PMID:16329096|PMID:16380626|PMID:17576681|PMID:18035376|PMID:18060436|PMID:18300272|PMID:20623299|PMID:23485406|PMID:23595507|PMID:23801932|PMID:24466005|PMID:24689081|PMID:25122144|PMID:25354366|PMID:25640679|PMID:25741868|PMID:26896283|PMID:28492532|PMID:30161288|PMID:9536098
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060671	cerebral cavernous malformation 3		ISS	RGD:1550654	D	RGD:13592920	20230718	MouseDO		OMIM:603285	
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060671	cerebral cavernous malformation 3	exacerbates	ISO	RGD:1351056	D	RGD:401827114|PMID:25122144	20230921	RGD		DNA:mutations:multiple (human)	
1359329	Pdcd10	programmed cell death 10	gene	DOID:0060671	cerebral cavernous malformation 3	onset	ISO	RGD:1351056	D	RGD:401827115|PMID:17041941	20230921	RGD		DNA:mutations:multiple (human)	
1359329	Pdcd10	programmed cell death 10	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:15543491|PMID:16380626|PMID:18300272|PMID:23801932|PMID:25741868|PMID:28492532
1359329	Pdcd10	programmed cell death 10	gene	DOID:0080491	cerebral cavernous malformation 1		ISO	RGD:1351056	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Cerebral cavernous malformation 1	PMID:25741868
1359329	Pdcd10	programmed cell death 10	gene	DOID:0080833	laryngomalacia		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:15543491|PMID:16380626|PMID:18300272|PMID:23801932|PMID:25741868|PMID:28492532
1359329	Pdcd10	programmed cell death 10	gene	DOID:11111	hydronephrosis		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:24689081
1359329	Pdcd10	programmed cell death 10	gene	DOID:12337	varicocele		IEP		D	RGD:401827162|PMID:19647235	20230926	RGD		protein:increased expression:testis (rat)	
1359329	Pdcd10	programmed cell death 10	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:15543491|PMID:16380626|PMID:18300272|PMID:23801932|PMID:25741868|PMID:28492532
1359329	Pdcd10	programmed cell death 10	gene	DOID:1826	epilepsy		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24689081
1359329	Pdcd10	programmed cell death 10	gene	DOID:2237	hepatitis		ISO	RGD:1351056	D	RGD:401827111|PMID:32186778	20230921	RGD		protein:increased expression:liver (human)	
1359329	Pdcd10	programmed cell death 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359329	Pdcd10	programmed cell death 10	gene	DOID:2870	endometrial adenocarcinoma	disease_progression	ISO	RGD:1351056	D	RGD:401827111|PMID:32186778	20230921	RGD		protein:increased expression:endometrium (human)	
1359329	Pdcd10	programmed cell death 10	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:15543491|PMID:16380626|PMID:18300272|PMID:23801932|PMID:25741868|PMID:28492532
1359329	Pdcd10	programmed cell death 10	gene	DOID:3310	atopic dermatitis		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:15543491|PMID:16380626|PMID:18300272|PMID:23801932|PMID:25741868|PMID:28492532
1359329	Pdcd10	programmed cell death 10	gene	DOID:4362	cervical cancer		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359329	Pdcd10	programmed cell death 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1351056	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359329	Pdcd10	programmed cell death 10	gene	DOID:5082	liver cirrhosis		ISO	RGD:1351056	D	RGD:401827111|PMID:32186778	20230921	RGD		protein:increased expression:liver (human)	
1359329	Pdcd10	programmed cell death 10	gene	DOID:630	genetic disease		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24689081|PMID:28492532
1359329	Pdcd10	programmed cell death 10	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1359329	Pdcd10	programmed cell death 10	gene	DOID:686	liver carcinoma		ISO	RGD:1351056	D	RGD:401827111|PMID:32186778	20230921	RGD		protein:increased expression:liver (human)	
1359329	Pdcd10	programmed cell death 10	gene	DOID:9000438	Subarachnoid Hemorrhage		IEP		D	RGD:401827168|PMID:32302649	20230926	RGD		protein:decreased expression:brain, microglial cell (rat)	
1359329	Pdcd10	programmed cell death 10	gene	DOID:9000660	Choristoma		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectopic tissue	PMID:24689081
1359329	Pdcd10	programmed cell death 10	gene	DOID:9003507	Premature Birth		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:15543491|PMID:16380626|PMID:18300272|PMID:23801932|PMID:25741868|PMID:28492532
1359329	Pdcd10	programmed cell death 10	gene	DOID:9003816	Macrocephaly		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:24689081
1359329	Pdcd10	programmed cell death 10	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:15543491|PMID:16380626|PMID:18300272|PMID:23801932|PMID:25741868|PMID:28492532
1359329	Pdcd10	programmed cell death 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359329	Pdcd10	programmed cell death 10	gene	DOID:9007661	Dwarfism		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:15543491|PMID:16380626|PMID:18300272|PMID:23801932|PMID:25741868|PMID:28492532
1359329	Pdcd10	programmed cell death 10	gene	DOID:9007701	Central Nervous System Neoplasms		ISO	RGD:1351056	D	RGD:401827110|PMID:19506228	20230921	RGD		multiple dural lesions associated with cerebral cavernous malformation 3;DNA:nonsense mutation, splice site mutations, deletion:CDS, intron:multiple (human)	
1359329	Pdcd10	programmed cell death 10	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24689081
1359329	Pdcd10	programmed cell death 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359329	Pdcd10	programmed cell death 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359331	Rabif	RAB interacting factor	gene	DOID:10534	stomach cancer		ISO	RGD:1344362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359331	Rabif	RAB interacting factor	gene	DOID:1324	lung cancer		ISO	RGD:1344362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359331	Rabif	RAB interacting factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1344362	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359331	Rabif	RAB interacting factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359333	Tcta	T-cell leukemia translocation altered	gene	DOID:10534	stomach cancer		ISO	RGD:1342729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359333	Tcta	T-cell leukemia translocation altered	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359334	C2h1orf56	similar to human chromosome 1 open reading frame 56	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359334	C2h1orf56	similar to human chromosome 1 open reading frame 56	gene	DOID:3070	high grade glioma		ISO	RGD:1603033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359334	C2h1orf56	similar to human chromosome 1 open reading frame 56	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359335	Xkr5	XK related 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359335	Xkr5	XK related 5	gene	DOID:1324	lung cancer		ISO	RGD:1604445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359335	Xkr5	XK related 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1604445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359335	Xkr5	XK related 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359335	Xkr5	XK related 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359335	Xkr5	XK related 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359336	St7l	suppression of tumorigenicity 7-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359336	St7l	suppression of tumorigenicity 7-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359336	St7l	suppression of tumorigenicity 7-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359336	St7l	suppression of tumorigenicity 7-like	gene	DOID:1115	sarcoma		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359336	St7l	suppression of tumorigenicity 7-like	gene	DOID:3275	thymoma		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359336	St7l	suppression of tumorigenicity 7-like	gene	DOID:4362	cervical cancer		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359336	St7l	suppression of tumorigenicity 7-like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359336	St7l	suppression of tumorigenicity 7-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1342887	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359336	St7l	suppression of tumorigenicity 7-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359336	St7l	suppression of tumorigenicity 7-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359336	St7l	suppression of tumorigenicity 7-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:0060292	X-linked chondrodysplasia punctata 1		ISS	RGD:1550149	D	RGD:13592920	20180518	MouseDO		OMIM:302950 | OMIM:302960	
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1343590	D	RGD:2316868|PMID:12668600	20100302	RGD			
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:0111822	CHILD syndrome		ISO	RGD:1343590	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25526675
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:0111822	CHILD syndrome		ISO	RGD:1343590	D	RGD:7240710	20130221	OMIM			
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:0111822	CHILD syndrome		ISO	RGD:1343590	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHILD SYNDROME | ClinVar Annotator: match by term: CHILD syndrome | ClinVar Annotator: match by term: Child syndrome | ClinVar Annotator: match by term: NSDHL-related condition	PMID:10710235|PMID:14527740|PMID:15689440|PMID:18414213|PMID:18825599|PMID:19906044|PMID:25093865|PMID:25741868|PMID:26459993|PMID:28492532|PMID:33739554
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:0111898	CK syndrome		ISO	RGD:1343590	D	RGD:7240710	20130221	OMIM			
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:0111898	CK syndrome		ISO	RGD:1343590	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CK SYNDROME | ClinVar Annotator: match by term: CK syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION	PMID:21129721|PMID:21290788|PMID:25741868|PMID:28492532|PMID:33739554|PMID:39039281
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:10534	stomach cancer		ISO	RGD:1343590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:1059	intellectual disability		ISO	RGD:1343590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:12305	Bloch-Sulzberger syndrome		ISS	RGD:1550149	D	RGD:13592920	20200109	MouseDO		OMIM:308300	
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:1826	epilepsy		ISO	RGD:1343590	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:1909	melanoma		ISO	RGD:1343590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1343590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:28492532
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343590	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:23125191
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:630	genetic disease		ISO	RGD:1343590	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:65	connective tissue disease		ISO	RGD:1343590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:9003507	Premature Birth		ISO	RGD:1343590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1343590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:25741868
1359337	Nsdhl	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602683	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:0061090	severe combined immunodeficiency 124		ISO	RGD:1602683	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:0061090	severe combined immunodeficiency 124		ISO	RGD:1602683	D	RGD:7240710	20130221	OMIM			
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:0061090	severe combined immunodeficiency 124		ISO	RGD:1602683	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 124, SEVERE COMBINED | ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation	PMID:16439204|PMID:16439205|PMID:17317666|PMID:20597108|PMID:25741868|PMID:28492532|PMID:31589614
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:0111816	syndactyly type 1		ISO	RGD:1602683	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Syndactyly type 1	
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16439204|PMID:20597108|PMID:21721379|PMID:25741868|PMID:28492532|PMID:33888552|PMID:37703920
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:13250	diarrhea		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:16439204|PMID:20597108|PMID:21721379|PMID:25741868|PMID:28492532|PMID:33888552|PMID:37703920
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:1417	choroid disease		ISO	RGD:12356698	D	RGD:9068941	20250605	OMIA		Choroidal hypoplasia, NHEJ1-related	PMID:10701187|PMID:10879403|PMID:11327669|PMID:120471|PMID:12809679|PMID:14268789|PMID:14437837|PMID:16178848|PMID:17204124|PMID:17916641|PMID:19946851|PMID:20807925|PMID:22051190|PMID:22065099|PMID:24939474|PMID:26346323|PMID:26732749|PMID:27387721|PMID:28702949|PMID:29111596|PMID:29708978|PMID:30657768|PMID:31684941|PMID:34544496|PMID:35092136|PMID:35127102|PMID:35369581|PMID:36848350|PMID:38003037|PMID:38334230|PMID:40428296|PMID:4631461|PMID:480920|PMID:4959239|PMID:4980211|PMID:4980212|PMID:4992161|PMID:4994718|PMID:5884039|PMID:5949333|PMID:6777963|PMID:6787732|PMID:6812274|PMID:7147637|PMID:9800301
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:2355	anemia		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:3488	cellulitis		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cellulitis	PMID:28492532
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1602683	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602683	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:16439204|PMID:20597108|PMID:21721379|PMID:25741868|PMID:28492532|PMID:33888552|PMID:37703920
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:630	genetic disease		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:718	autoimmune hemolytic anemia		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune hemolytic anemia	PMID:28492532
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:28492532
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16439204|PMID:20597108|PMID:21721379|PMID:25741868|PMID:28492532|PMID:33888552|PMID:37703920
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31130284
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:9009206	Microphthalmia/Coloboma 13		ISO	RGD:1602683	D	RGD:7240710	20241016	OMIM			
1359338	Nhej1	nonhomologous end-joining factor 1	gene	DOID:9009206	Microphthalmia/Coloboma 13		ISO	RGD:1602683	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROPHTHALMIA/COLOBOMA 13	PMID:25741868
1359339	Pacc1	proton activated chloride channel 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359339	Pacc1	proton activated chloride channel 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359339	Pacc1	proton activated chloride channel 1	gene	DOID:1909	melanoma		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359339	Pacc1	proton activated chloride channel 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602479	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359339	Pacc1	proton activated chloride channel 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359339	Pacc1	proton activated chloride channel 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359339	Pacc1	proton activated chloride channel 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359339	Pacc1	proton activated chloride channel 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359339	Pacc1	proton activated chloride channel 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602479	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359339	Pacc1	proton activated chloride channel 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1602479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359343	Rbm4b	RNA binding motif protein 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359343	Rbm4b	RNA binding motif protein 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359345	Cavin2	caveolae associated protein 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1348108	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25792468
1359345	Cavin2	caveolae associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359346	Agtrap	angiotensin II receptor-associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359346	Agtrap	angiotensin II receptor-associated protein	gene	DOID:0060158	acquired metabolic disease		ISS	RGD:1552153	D	RGD:13592920	20210401	MouseDO			
1359346	Agtrap	angiotensin II receptor-associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359346	Agtrap	angiotensin II receptor-associated protein	gene	DOID:10763	hypertension		IEP		D	RGD:2314351|PMID:18725581	20091111	RGD		protein:increased expression:kidney	
1359346	Agtrap	angiotensin II receptor-associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359346	Agtrap	angiotensin II receptor-associated protein	gene	DOID:1909	melanoma		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359346	Agtrap	angiotensin II receptor-associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359346	Agtrap	angiotensin II receptor-associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359346	Agtrap	angiotensin II receptor-associated protein	gene	DOID:9003936	Cardiomegaly		IEP		D	RGD:2314351|PMID:18725581	20091111	RGD			
1359346	Agtrap	angiotensin II receptor-associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359346	Agtrap	angiotensin II receptor-associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359348	Prrt1	proline-rich transmembrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359348	Prrt1	proline-rich transmembrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359352	Ik	IK cytokine	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359352	Ik	IK cytokine	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359352	Ik	IK cytokine	gene	DOID:1324	lung cancer		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359352	Ik	IK cytokine	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359352	Ik	IK cytokine	gene	DOID:4362	cervical cancer		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359352	Ik	IK cytokine	gene	DOID:5041	esophageal cancer		ISO	RGD:1347168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359352	Ik	IK cytokine	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1359352	Ik	IK cytokine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359352	Ik	IK cytokine	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359352	Ik	IK cytokine	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1359352	Ik	IK cytokine	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359352	Ik	IK cytokine	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359353	Tex264	testis expressed 264, ER-phagy receptor	gene	DOID:10534	stomach cancer		ISO	RGD:1347640	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359353	Tex264	testis expressed 264, ER-phagy receptor	gene	DOID:1115	sarcoma		ISO	RGD:1347640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359353	Tex264	testis expressed 264, ER-phagy receptor	gene	DOID:1324	lung cancer		ISO	RGD:1347640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359353	Tex264	testis expressed 264, ER-phagy receptor	gene	DOID:1909	melanoma		ISO	RGD:1347640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359353	Tex264	testis expressed 264, ER-phagy receptor	gene	DOID:2394	ovarian cancer		ISO	RGD:1347640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359353	Tex264	testis expressed 264, ER-phagy receptor	gene	DOID:4362	cervical cancer		ISO	RGD:1347640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359353	Tex264	testis expressed 264, ER-phagy receptor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359353	Tex264	testis expressed 264, ER-phagy receptor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359353	Tex264	testis expressed 264, ER-phagy receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359353	Tex264	testis expressed 264, ER-phagy receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359354	Clec4b2	C-type lectin domain family 4, member B2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359354	Clec4b2	C-type lectin domain family 4, member B2	gene	DOID:409	liver disease		ISO	RGD:1616406	D	RGD:11554173	20260519	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
1359354	Clec4b2	C-type lectin domain family 4, member B2	gene	DOID:4362	cervical cancer		ISO	RGD:1349387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359354	Clec4b2	C-type lectin domain family 4, member B2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359354	Clec4b2	C-type lectin domain family 4, member B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359354	Clec4b2	C-type lectin domain family 4, member B2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359355	M6pr	mannose-6-phosphate receptor, cation dependent	gene	DOID:10534	stomach cancer		ISO	RGD:1354089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359355	M6pr	mannose-6-phosphate receptor, cation dependent	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359355	M6pr	mannose-6-phosphate receptor, cation dependent	gene	DOID:1115	sarcoma		ISO	RGD:1354089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359355	M6pr	mannose-6-phosphate receptor, cation dependent	gene	DOID:3070	high grade glioma		ISO	RGD:1354089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359355	M6pr	mannose-6-phosphate receptor, cation dependent	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359355	M6pr	mannose-6-phosphate receptor, cation dependent	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1354089	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
1359355	M6pr	mannose-6-phosphate receptor, cation dependent	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359355	M6pr	mannose-6-phosphate receptor, cation dependent	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1354089	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1359355	M6pr	mannose-6-phosphate receptor, cation dependent	gene	DOID:9000918	Disease Progression		ISO	RGD:1354089	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1359355	M6pr	mannose-6-phosphate receptor, cation dependent	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1354089	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
1359356	Mxra8	matrix remodeling associated 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359356	Mxra8	matrix remodeling associated 8	gene	DOID:10534	stomach cancer		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359356	Mxra8	matrix remodeling associated 8	gene	DOID:1909	melanoma		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359356	Mxra8	matrix remodeling associated 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359356	Mxra8	matrix remodeling associated 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359356	Mxra8	matrix remodeling associated 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359356	Mxra8	matrix remodeling associated 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359356	Mxra8	matrix remodeling associated 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:0060227	Adams-Oliver syndrome		ISO	RGD:1602633	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:0060227	Adams-Oliver syndrome		ISO	RGD:1602633	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adams-Oliver syndrome	PMID:25741868
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:10534	stomach cancer		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:1115	sarcoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:1324	lung cancer		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:1909	melanoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:3275	thymoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:4362	cervical cancer		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1602633	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:630	genetic disease		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:9002329	Adams-Oliver Syndrome 4		ISO	RGD:1602633	D	RGD:7240710	20140911	OMIM			
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:9002329	Adams-Oliver Syndrome 4		ISO	RGD:1602633	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADAMS-OLIVER SYNDROME 4 | ClinVar Annotator: match by term: Adams-Oliver syndrome 4 | ClinVar Annotator: match by term: EOGT-related condition	PMID:16199547|PMID:17576681|PMID:23522784|PMID:23860037|PMID:25488668|PMID:25741868|PMID:28492532|PMID:29924900|PMID:31368252|PMID:31654484|PMID:34782754|PMID:9536098
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1359357	Eogt	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:1115	sarcoma		ISO	RGD:1322126	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1322126	D	RGD:1580546|PMID:16469744	20081002	RGD			
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:3070	high grade glioma		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:3393	coronary artery disease		ISO	RGD:1322126	D	RGD:1580548|PMID:15811259	20081002	RGD			
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:5041	esophageal cancer		ISO	RGD:1322126	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:5844	myocardial infarction		ISO	RGD:1322126	D	RGD:1580548|PMID:15811259	20081002	RGD			
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:2312263|PMID:18413674	20110505	RGD		mRNA:increased expression:heart	
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:9007440	Coronary Artery Disease, Autosomal Dominant 1		ISO	RGD:1322126	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:9007440	Coronary Artery Disease, Autosomal Dominant 1		ISO	RGD:1322126	D	RGD:7240710	20130425	OMIM			
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:9007440	Coronary Artery Disease, Autosomal Dominant 1		ISO	RGD:1322126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION | ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant, 1 | ClinVar Annotator: match by term: MEF2A-related disorder	PMID:15496429|PMID:15598500|PMID:25741868|PMID:34691145
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359360	Mef2a	myocyte enhancer factor 2a	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359361	Slc25a37	solute carrier family 25 member 37	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359361	Slc25a37	solute carrier family 25 member 37	gene	DOID:1324	lung cancer		ISO	RGD:1605395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359361	Slc25a37	solute carrier family 25 member 37	gene	DOID:1909	melanoma		ISO	RGD:1605395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359361	Slc25a37	solute carrier family 25 member 37	gene	DOID:2355	anemia		ISO	RGD:1605395	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22253756
1359362	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:10327	anthracosis		ISO	RGD:1343894	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394417
1359362	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359362	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1343894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359362	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:1909	melanoma		ISO	RGD:1343894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359362	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:3275	thymoma		ISO	RGD:1343894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359362	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359362	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359362	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1343894	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1359362	Flacc1	flagellum associated containing coiled-coil domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359363	Abtb1	ankyrin repeat and BTB domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359363	Abtb1	ankyrin repeat and BTB domain containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1349137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359363	Abtb1	ankyrin repeat and BTB domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359363	Abtb1	ankyrin repeat and BTB domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359363	Abtb1	ankyrin repeat and BTB domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1349137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359363	Abtb1	ankyrin repeat and BTB domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359363	Abtb1	ankyrin repeat and BTB domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1349137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359363	Abtb1	ankyrin repeat and BTB domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359363	Abtb1	ankyrin repeat and BTB domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359363	Abtb1	ankyrin repeat and BTB domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359363	Abtb1	ankyrin repeat and BTB domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359363	Abtb1	ankyrin repeat and BTB domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:737064	D	RGD:645244059|PMID:20836851	20260504	RGD		protein:decreased expression:lung	
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:737064	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cooley's anemia	PMID:11410420|PMID:1281602|PMID:1581238|PMID:25741868|PMID:26467025|PMID:29627922|PMID:31273613|PMID:31286593|PMID:31304855|PMID:31755088|PMID:33059634|PMID:34272389|PMID:34426522|PMID:7701914|PMID:7734346
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:0110031	hemoglobin H disease		ISO	RGD:737064	D	RGD:7240710	20260114	OMIM			
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:0110031	hemoglobin H disease		ISO	RGD:737064	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN H DISEASE, DELETIONAL	PMID:11410420|PMID:1281602|PMID:1581238|PMID:15921163|PMID:16512835|PMID:1726096|PMID:17486494|PMID:19259674|PMID:20507641|PMID:21797711|PMID:24261598|PMID:24300714|PMID:25523870|PMID:25741868|PMID:26467025|PMID:26956449|PMID:28125089|PMID:29627922|PMID:30275481|PMID:31025160|PMID:31273613|PMID:31286593|PMID:31304855|PMID:31553106|PMID:31755088|PMID:32723194|PMID:33059634|PMID:33769430|PMID:34272389|PMID:34426522|PMID:34492731|PMID:35638908|PMID:35701592|PMID:36567661|PMID:38708170|PMID:6826718|PMID:7070526|PMID:7515267|PMID:7701914|PMID:7734346
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:0111363	Heinz body anemia		ISO	RGD:737064	D	RGD:11554173	20260120	CTD		CTD Direct Evidence: marker/mechanism	
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:0111363	Heinz body anemia		ISO	RGD:737064	D	RGD:7240710	20260114	OMIM			
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:0111363	Heinz body anemia		ISO	RGD:737064	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia	PMID:11410420|PMID:1281602|PMID:1581238|PMID:15921163|PMID:16512835|PMID:1726096|PMID:17486494|PMID:19259674|PMID:20507641|PMID:21797711|PMID:24261598|PMID:24300714|PMID:25523870|PMID:25741868|PMID:26467025|PMID:26956449|PMID:28125089|PMID:29627922|PMID:30275481|PMID:31025160|PMID:31273613|PMID:31286593|PMID:31304855|PMID:31553106|PMID:31755088|PMID:32723194|PMID:33059634|PMID:33769430|PMID:34272389|PMID:34426522|PMID:34492731|PMID:35638908|PMID:35701592|PMID:36567661|PMID:38708170|PMID:6826718|PMID:7070526|PMID:7515267|PMID:7701914|PMID:7734346
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:0111631	familial erythrocytosis 7		ISO	RGD:737064	D	RGD:7240710	20260114	OMIM			
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:0111631	familial erythrocytosis 7		ISO	RGD:737064	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ERYTHROCYTOSIS 7 | ClinVar Annotator: match by term: Erythrocytosis, familial, 7	PMID:11410420|PMID:1281602|PMID:1581238|PMID:15921163|PMID:16512835|PMID:1726096|PMID:17486494|PMID:19259674|PMID:20507641|PMID:21797711|PMID:24261598|PMID:24300714|PMID:25523870|PMID:25741868|PMID:26467025|PMID:26956449|PMID:28125089|PMID:29627922|PMID:30275481|PMID:31025160|PMID:31273613|PMID:31286593|PMID:31304855|PMID:31553106|PMID:31755088|PMID:32723194|PMID:33059634|PMID:33769430|PMID:34272389|PMID:34426522|PMID:34492731|PMID:35638908|PMID:35701592|PMID:36567661|PMID:38708170|PMID:6826718|PMID:7070526|PMID:7515267|PMID:7701914|PMID:7734346
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:10241	thalassemia		ISO	RGD:737064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thalassemia	PMID:12671183|PMID:18003757|PMID:25741868
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:10763	hypertension	sexual_dimorphism	HEP		D	RGD:645244057|PMID:27521802	20260504	RGD		mRNA:increased expression:kidney	
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:10923	sickle cell anemia	severity	ISO	RGD:737064	D	RGD:645244058|PMID:6196966	20260504	RGD			
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:1099	alpha thalassemia		ISO	RGD:1351471	D	RGD:10449442|PMID:4044827	20160104	RGD			
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:1099	alpha thalassemia		ISO	RGD:737064	D	RGD:11554173	20260120	CTD		CTD Direct Evidence: marker/mechanism	PMID:15182556|PMID:16798638
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:1099	alpha thalassemia		ISO	RGD:737064	D	RGD:1599361|PMID:6490612	20070131	RGD		DNA:point mutation:exon:p.M1T (human)	
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:1099	alpha thalassemia		ISO	RGD:737064	D	RGD:7240710	20260114	OMIM			
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:1099	alpha thalassemia		ISO	RGD:737064	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Alpha thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN PRATO | ClinVar Annotator: match by term: Hemoglobin Quong Sze | ClinVar Annotator: match by term: alpha Thalassemia | ClinVar Annotator: match by term: alpha-Thalassemia	PMID:1062801|PMID:10722113|PMID:10997982|PMID:11074535|PMID:1115799|PMID:11410420|PMID:1155453|PMID:11570724|PMID:11722414|PMID:11791870|PMID:12144061|PMID:12393486|PMID:1281602|PMID:14500599|PMID:14508795|PMID:14587048|PMID:14632787|PMID:1487423|PMID:1517104|PMID:15481894|PMID:15481895|PMID:15658192|PMID:1581238|PMID:15813858|PMID:15921163|PMID:16103716|PMID:16370485|PMID:16512835|PMID:16798638|PMID:16840231|PMID:17018682|PMID:17054428|PMID:1726096|PMID:17486494|PMID:17486499|PMID:1802886|PMID:18473243|PMID:18615546|PMID:18654893|PMID:18691171|PMID:18923834|PMID:19065338|PMID:19205977|PMID:19259674|PMID:19349619|PMID:19373587|PMID:19657838|PMID:19958200|PMID:20113287|PMID:20309827|PMID:20412082|PMID:20507641|PMID:20524822|PMID:20642333|PMID:20642338|PMID:20642339|PMID:20691621|PMID:2079430|PMID:2079431|PMID:20854116|PMID:21417571|PMID:21637442|PMID:21797711|PMID:21950764|PMID:21967524|PMID:22384838|PMID:22738776|PMID:22943743|PMID:2298455|PMID:23181747|PMID:23402770|PMID:23491071|PMID:23517369|PMID:23590659|PMID:23614625|PMID:2372512|PMID:23741188|PMID:24018802|PMID:24081251|PMID:24200101|PMID:24261598|PMID:24274170|PMID:24300714|PMID:24351118|PMID:24672827|PMID:24829075|PMID:25130136|PMID:25332604|PMID:25370869|PMID:25476779|PMID:25523870|PMID:25730315|PMID:25741868|PMID:25786670|PMID:25818820|PMID:25943047|PMID:25976777|PMID:26193977|PMID:26247176|PMID:26294665|PMID:26365411|PMID:26460264|PMID:26467025|PMID:26485748|PMID:26523940|PMID:26574177|PMID:26635043|PMID:26956449|PMID:27173219|PMID:27199182|PMID:27207683|PMID:27271331|PMID:27686733|PMID:28125089|PMID:28160324|PMID:28492532|PMID:28696843|PMID:29032940|PMID:29115167|PMID:29403210|PMID:29627922|PMID:29749692|PMID:30151892|PMID:3024968|PMID:30275481|PMID:30501529|PMID:30830998|PMID:31025160|PMID:31199523|PMID:31273613|PMID:31286593|PMID:31304855|PMID:31478238|PMID:31553106|PMID:31755088|PMID:31930682|PMID:31933393|PMID:32199931|PMID:32436451|PMID:32597250|PMID:32723194|PMID:32831051|PMID:32860378|PMID:33059634|PMID:33364739|PMID:33769430|PMID:3384694|PMID:3384700|PMID:33979976|PMID:34272389|PMID:34334003|PMID:34426522|PMID:34492731|PMID:34951342|PMID:35346645|PMID:35638908|PMID:35701592|PMID:3593966|PMID:3597771|PMID:3620699|PMID:36567661|PMID:36900038|PMID:37033172|PMID:37606495|PMID:37615562|PMID:37745687|PMID:38459613|PMID:38504512|PMID:38708170|PMID:39258179|PMID:39501461|PMID:4281477|PMID:4422784|PMID:4667378|PMID:486536|PMID:4944483|PMID:5115619|PMID:5713624|PMID:5780195|PMID:598515|PMID:6253786|PMID:6327575|PMID:6646217|PMID:6674875|PMID:6725554|PMID:6826718|PMID:6994493|PMID:7070526|PMID:7096113|PMID:7295286|PMID:7440717|PMID:7515267|PMID:7701914|PMID:7734346|PMID:7803252|PMID:7803274|PMID:7947237|PMID:8237999|PMID:8555062|PMID:8602995|PMID:868864|PMID:8790146|PMID:8811313|PMID:9029003|PMID:9057661|PMID:9255612
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:1099	alpha thalassemia	severity	ISO	RGD:737064	D	RGD:9068941	20260115	RGD		associated with Anemia, Sickle Cell;	PMID:9604545|REF_RGD_ID:10755568
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:11394	adult respiratory distress syndrome	disease_progression	ISO	RGD:737064	D	RGD:632527147|PMID:39161760	20260504	RGD		associated with critical COVID-19;mRNA:altered expression:peripheral blood mononuclear cell	
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:12241	beta thalassemia		ISO	RGD:737064	D	RGD:11554173	20260120	CTD		CTD Direct Evidence: marker/mechanism	PMID:17292142
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:12241	beta thalassemia		ISO	RGD:737064	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mediterranean anemia	PMID:11410420|PMID:1281602|PMID:1581238|PMID:25741868|PMID:26467025|PMID:29627922|PMID:31273613|PMID:31286593|PMID:31304855|PMID:31755088|PMID:33059634|PMID:34272389|PMID:34426522|PMID:7701914|PMID:7734346
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:1495	cystic echinococcosis	treatment	ISO	RGD:737064	D	RGD:640469345|PMID:33786043	20260305	RGD			
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:2860	hemoglobinopathy		ISO	RGD:737064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN CLINICO-MADRID | ClinVar Annotator: match by term: HEMOGLOBIN VAL DE MARNE	PMID:11186266
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:630	genetic disease		ISO	RGD:737064	D	RGD:8554872	20260120	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:8432	polycythemia		ISO	RGD:737064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN J (BUDA)	
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:9001341	Chloracne		ISO	RGD:737064	D	RGD:11554173	20260120	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:9002953	Escherichia Coli Infections	treatment	ISO	RGD:1351471	D	RGD:10449443|PMID:18786935	20160104	RGD			
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:9003343	Alpha-Thalassemia-2, Nondeletional		ISO	RGD:737064	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN PLASENCIA | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional	PMID:11410420|PMID:1281602|PMID:1581238|PMID:15921163|PMID:20854117|PMID:21077766|PMID:23368878|PMID:25741868|PMID:26467025|PMID:29627922|PMID:31273613|PMID:31286593|PMID:31304855|PMID:31755088|PMID:33059634|PMID:34272389|PMID:34426522|PMID:7701914|PMID:7734346
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:9005785	Altitude Sickness	susceptibility	ISO	RGD:737064	D	RGD:632522755|PMID:39944919	20260220	RGD		mRNA:increased expression:blood	
1359364	Hba-a2	hemoglobin alpha, adult chain 2	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:737064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME	PMID:20412082|PMID:20507641|PMID:23822871|PMID:26467025|PMID:9029003
1359365	Rcn3	reticulocalbin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359365	Rcn3	reticulocalbin 3	gene	DOID:1324	lung cancer		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359365	Rcn3	reticulocalbin 3	gene	DOID:3070	high grade glioma		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359365	Rcn3	reticulocalbin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1346169	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359365	Rcn3	reticulocalbin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359365	Rcn3	reticulocalbin 3	gene	DOID:8398	osteoarthritis		ISO	RGD:1346169	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1359365	Rcn3	reticulocalbin 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1359365	Rcn3	reticulocalbin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359365	Rcn3	reticulocalbin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1354229	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:2349	arteriosclerosis		ISO	RGD:1552173	D	RGD:1601111|PMID:16675724	20070406	RGD			
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1354229	D	RGD:1601112|PMID:16195894	20070406	RGD		DNA:polymorphisms: :41A>G, 734C>T, IVS4-57_58ins48bp	
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1552173	D	RGD:1556516|PMID:11100118	20180827	RGD			
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:1354229	D	RGD:1581921|PMID:14557872	20070406	RGD		DNA:polymorphism	
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:9007685	Cytosolic Acetoacetyl-CoA Thiolase Deficiency		ISO	RGD:1354229	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:9007685	Cytosolic Acetoacetyl-CoA Thiolase Deficiency		ISO	RGD:1354229	D	RGD:7240710	20141015	OMIM			
1359366	Acat2	acetyl-CoA acetyltransferase 2	gene	DOID:9007685	Cytosolic Acetoacetyl-CoA Thiolase Deficiency		ISO	RGD:1354229	D	RGD:8554872	20180807	ClinVar		ClinVar Annotator: match by term: Acetyl-CoA acetyltransferase-2 deficiency	PMID:25741868
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related	PMID:24033266|PMID:25741868|PMID:28492532
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:3160581	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22522420|PMID:22522421
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0080000	muscular disease		ISO	RGD:3160581	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22522421
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U		ISO	RGD:3160581	D	RGD:7240710	20180808	OMIM			
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7	PMID:16199547|PMID:17576681|PMID:22522420|PMID:22522421|PMID:23217329|PMID:23288328|PMID:23390185|PMID:24033266|PMID:24120487|PMID:25640679|PMID:25741868|PMID:26404900|PMID:26467025|PMID:27234031|PMID:28492532|PMID:28688748|PMID:29382405|PMID:31127727|PMID:31395954|PMID:31909476|PMID:32502767|PMID:33199158|PMID:34485198|PMID:34645488|PMID:9536098
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U		ISS	RGD:1550679	D	RGD:13592920	20230718	MouseDO		OMIM:616052	
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency		ISO	RGD:3160581	D	RGD:8554872	20180515	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	PMID:25741868
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0111234	congenital muscular dystrophy-dystroglycanopathy type A7		ISO	RGD:3160581	D	RGD:7240710	20140911	OMIM			
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0111234	congenital muscular dystrophy-dystroglycanopathy type A7		ISO	RGD:3160581	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED	PMID:16199547|PMID:22522420|PMID:22522421|PMID:23288328|PMID:24033266|PMID:24120487|PMID:25741868|PMID:26467025|PMID:27363342|PMID:28492532|PMID:28688748|PMID:28973083
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0112374	muscular dystrophy-dystroglycanopathy		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy	PMID:25741868
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:10908	hydrocephalus		ISO	RGD:3160581	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22522421
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:1324	lung cancer		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:1909	melanoma		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:3275	thymoma		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:4362	cervical cancer		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:3160581	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22522421
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359368	Crppa	CDP-L-ribitol pyrophosphorylase A	gene	DOID:9884	muscular dystrophy		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
1359369	Ccin	calicin	gene	DOID:0070590	spermatogenic failure 91		ISO	RGD:1343153	D	RGD:7240710	20240619	OMIM			
1359369	Ccin	calicin	gene	DOID:0070590	spermatogenic failure 91		ISO	RGD:1343153	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 91	
1359370	Lhfpl5	LHFPL tetraspan subfamily member 5	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1347478	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:16459341|PMID:25741868|PMID:30177809|PMID:30298622
1359370	Lhfpl5	LHFPL tetraspan subfamily member 5	gene	DOID:0060308	autosomal recessive intellectual developmental disorder		ISO	RGD:1347478	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability	PMID:27148795
1359370	Lhfpl5	LHFPL tetraspan subfamily member 5	gene	DOID:0110518	autosomal recessive nonsyndromic deafness 67		ISO	RGD:1347478	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:30177809
1359370	Lhfpl5	LHFPL tetraspan subfamily member 5	gene	DOID:0110518	autosomal recessive nonsyndromic deafness 67		ISO	RGD:1347478	D	RGD:7240710	20130221	OMIM			
1359370	Lhfpl5	LHFPL tetraspan subfamily member 5	gene	DOID:0110518	autosomal recessive nonsyndromic deafness 67		ISO	RGD:1347478	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 67 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 67 | ClinVar Annotator: match by term: Deafness, autosomal recessive 67 | ClinVar Annotator: match by term: LHFPL5-related condition	PMID:15905332|PMID:16459341|PMID:19888295|PMID:21726435|PMID:21816241|PMID:24033266|PMID:25741868|PMID:26437881|PMID:28492532|PMID:30177809|PMID:30298622|PMID:30311386|PMID:30476627|PMID:31126177|PMID:32747562
1359370	Lhfpl5	LHFPL tetraspan subfamily member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1347478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359370	Lhfpl5	LHFPL tetraspan subfamily member 5	gene	DOID:1115	sarcoma		ISO	RGD:1347478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359370	Lhfpl5	LHFPL tetraspan subfamily member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1347478	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359370	Lhfpl5	LHFPL tetraspan subfamily member 5	gene	DOID:630	genetic disease		ISO	RGD:1347478	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:28492532
1359370	Lhfpl5	LHFPL tetraspan subfamily member 5	gene	DOID:9004538	Hearing Loss		ISO	RGD:1347478	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:16459341|PMID:25741868|PMID:28492532|PMID:30177809|PMID:30298622|PMID:30311386
1359370	Lhfpl5	LHFPL tetraspan subfamily member 5	gene	DOID:9008681	Deafness		ISO	RGD:1347478	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:10534	stomach cancer		ISO	RGD:1606258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:1324	lung cancer		ISO	RGD:1606258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:1909	melanoma		ISO	RGD:1606258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:2366	West Nile fever	severity	ISO	RGD:1614930	D	RGD:40903045|PMID:28094802	20210106	RGD			
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:3070	high grade glioma		ISO	RGD:1606258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:3298	vaccinia	treatment	ISO	RGD:1614930	D	RGD:40903043|PMID:26849062	20210106	RGD			
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:3482	plague	susceptibility	ISO	RGD:1614930	D	RGD:40903046|PMID:25064677	20210106	RGD			
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:4362	cervical cancer		ISO	RGD:1606258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1606258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:8469	influenza	treatment	ISO	RGD:1614930	D	RGD:40902992|PMID:31461653	20201221	RGD			
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:9000371	influenza A	disease_progression	ISO	RGD:1614930	D	RGD:40903047|PMID:27438481	20210106	RGD			
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:9000645	Rotavirus Infections	severity	ISO	RGD:1614930	D	RGD:40903048|PMID:30460894	20210106	RGD			
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:9005757	Metapneumovirus infections	severity	ISO	RGD:1614930	D	RGD:40903044|PMID:25953917	20210106	RGD			
1359371	Mavs	mitochondrial antiviral signaling protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359372	Pdss2	decaprenyl diphosphate synthase subunit 2	gene	DOID:0050730	coenzyme Q10 deficiency disease		ISS	RGD:1615065	D	RGD:13592920	20180518	MouseDO		OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654	
1359372	Pdss2	decaprenyl diphosphate synthase subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359372	Pdss2	decaprenyl diphosphate synthase subunit 2	gene	DOID:0070240	primary coenzyme Q10 deficiency 3		ISO	RGD:1353926	D	RGD:7240710	20140911	OMIM			
1359372	Pdss2	decaprenyl diphosphate synthase subunit 2	gene	DOID:0070240	primary coenzyme Q10 deficiency 3		ISO	RGD:1353926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 3 | ClinVar Annotator: match by term: PDSS2-related condition	PMID:17186472|PMID:17374725|PMID:19096106|PMID:20689595|PMID:23816342|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29127259
1359372	Pdss2	decaprenyl diphosphate synthase subunit 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1353926	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:17186472|PMID:17374725|PMID:19096106|PMID:20689595|PMID:23816342|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29127259
1359372	Pdss2	decaprenyl diphosphate synthase subunit 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1353926	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868|PMID:28492532
1359372	Pdss2	decaprenyl diphosphate synthase subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359372	Pdss2	decaprenyl diphosphate synthase subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1353926	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359372	Pdss2	decaprenyl diphosphate synthase subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359376	Kng1	kininogen 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359376	Kng1	kininogen 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359376	Kng1	kininogen 1	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:1603713	D	RGD:9068941	20231026	RGD		DNA:SNP: :rs710446(human)	PMID:26159646|REF_RGD_ID:10411883
1359376	Kng1	kininogen 1	gene	DOID:0060903	thrombosis		ISO	RGD:1603713	D	RGD:8554872	20231031	ClinVar		ClinVar Annotator: match by term: Thrombus	PMID:25741868
1359376	Kng1	kininogen 1	gene	DOID:0080941	acquired angioedema		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:9734886
1359376	Kng1	kininogen 1	gene	DOID:0111676	high molecular weight kininogen deficiency		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	
1359376	Kng1	kininogen 1	gene	DOID:0111676	high molecular weight kininogen deficiency		ISO	RGD:1603713	D	RGD:7240710	20231025	OMIM			
1359376	Kng1	kininogen 1	gene	DOID:0111676	high molecular weight kininogen deficiency		ISO	RGD:1603713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY | ClinVar Annotator: match by term: High molecular weight kininogen deficiency | ClinVar Annotator: match by term: KININOGEN DEFICIENCY, TOTAL | ClinVar Annotator: match by term: KNG1-related condition	PMID:17522339|PMID:25741868|PMID:32202057|PMID:36700498
1359376	Kng1	kininogen 1	gene	DOID:10763	hypertension		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:7027322
1359376	Kng1	kininogen 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359376	Kng1	kininogen 1	gene	DOID:11123	IgA vasculitis		ISO	RGD:1603713	D	RGD:9068941	20231026	RGD		protein:increased expression:serum	PMID:26098644|REF_RGD_ID:11059888
1359376	Kng1	kininogen 1	gene	DOID:1205	allergic disease		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:11160071
1359376	Kng1	kininogen 1	gene	DOID:1324	lung cancer		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359376	Kng1	kininogen 1	gene	DOID:14735	hereditary angioedema		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:9734886
1359376	Kng1	kininogen 1	gene	DOID:14735	hereditary angioedema		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary angioedema with normal C1Inh	PMID:33114181
1359376	Kng1	kininogen 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: therapeutic	PMID:513486|PMID:3015452
1359376	Kng1	kininogen 1	gene	DOID:4404	occupational dermatitis		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:30685357
1359376	Kng1	kininogen 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359376	Kng1	kininogen 1	gene	DOID:7693	abdominal aortic aneurysm		IAGP		D	RGD:1302825|PMID:15238617	20201001	RGD		DNA:SNP:487G>A	
1359376	Kng1	kininogen 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: therapeutic	PMID:2535056
1359376	Kng1	kininogen 1	gene	DOID:9000197	Edema		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:9719496
1359376	Kng1	kininogen 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:22248470
1359376	Kng1	kininogen 1	gene	DOID:9000641	Pain		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:1281941|PMID:3951883|PMID:10445233|PMID:10543429|PMID:16076651|PMID:20018876|PMID:29655911
1359376	Kng1	kininogen 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: therapeutic	PMID:18054572
1359376	Kng1	kininogen 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1603713	D	RGD:9068941	20231026	RGD		associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :7965C>T (human)	PMID:17065357|REF_RGD_ID:2311541
1359376	Kng1	kininogen 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:2010815|PMID:2128375|PMID:3061568|PMID:7493622|PMID:7582491|PMID:7881729|PMID:9714424|PMID:9720808|PMID:10401557|PMID:10499367|PMID:10543429|PMID:15626726|PMID:16259764|PMID:16793879|PMID:18234883|PMID:21521205
1359376	Kng1	kininogen 1	gene	DOID:9002291	Hereditary Angioedema 6		ISO	RGD:1603713	D	RGD:7240710	20231025	OMIM			
1359376	Kng1	kininogen 1	gene	DOID:9002291	Hereditary Angioedema 6		ISO	RGD:1603713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, 6	
1359376	Kng1	kininogen 1	gene	DOID:9002554	Tachycardia		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:7027322
1359376	Kng1	kininogen 1	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:1603713	D	RGD:9068941	20231026	RGD		DNA:SNP: :rs710446 (human)	PMID:25472531|REF_RGD_ID:11059890
1359376	Kng1	kininogen 1	gene	DOID:9005236	Drug Eruptions		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:1371395|PMID:3034372
1359376	Kng1	kininogen 1	gene	DOID:9006024	Hypotension		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:1334354|PMID:2404862|PMID:6675575|PMID:9249246|PMID:10805402|PMID:14744816|PMID:16321614|PMID:18084312|PMID:21420289
1359376	Kng1	kininogen 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:30685357
1359376	Kng1	kininogen 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359376	Kng1	kininogen 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:1281941
1359376	Kng1	kininogen 1	gene	DOID:9007073	Cough		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:22693178
1359376	Kng1	kininogen 1	gene	DOID:9007251	Hyperesthesia		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:8190269
1359376	Kng1	kininogen 1	gene	DOID:9007278	Anaphylaxis		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:7623993
1359376	Kng1	kininogen 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:20362651|PMID:30685357
1359376	Kng1	kininogen 1	gene	DOID:9007477	Kininogen Deficiency, High Molecular Weight and Low Molecular Weight		IAGP		D	RGD:68697|PMID:11208766	20200207	RGD		DNA:mutation:cds:p.Ala163Thr (rat)	
1359376	Kng1	kininogen 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: therapeutic	PMID:2535056|PMID:7856280
1359376	Kng1	kininogen 1	gene	DOID:9007925	Sudden Cardiac Death	susceptibility	ISO	RGD:1603713	D	RGD:9068941	20231026	RGD		DNA:SNPs: :	PMID:19716087|REF_RGD_ID:10411885
1359376	Kng1	kininogen 1	gene	DOID:9008511	Extravasation of Diagnostic and Therapeutic Materials		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:9622145
1359376	Kng1	kininogen 1	gene	DOID:9009039	Hyperemia		ISO	RGD:1603713	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:11837250
1359376	Kng1	kininogen 1	gene	DOID:9719	neovascular inflammatory vitreoretinopathy	severity	ISO	RGD:1603713	D	RGD:9068941	20231026	RGD		protein:increased expression:vitreous,serum:	PMID:23808406|REF_RGD_ID:10411880
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:0112071	nuclear type mitochondrial complex I deficiency 31		ISO	RGD:1351318	D	RGD:7240710	20190315	OMIM			
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:0112071	nuclear type mitochondrial complex I deficiency 31		ISO	RGD:1351318	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 31 | ClinVar Annotator: match by term: TIMMDC1-related condition	PMID:25741868|PMID:28492532|PMID:28604674|PMID:33278652|PMID:33586140|PMID:33852835|PMID:35091571|PMID:35379322|PMID:36349561
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1351318	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:3652	Leigh disease		ISO	RGD:1351318	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351318	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359380	Timmdc1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1343966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24146755
1359383	Rassf1	Ras association domain family member 1	gene	DOID:0050685	small cell carcinoma		ISO	RGD:1343966	D	RGD:2291977|PMID:12222680	20080408	RGD			
1359383	Rassf1	Ras association domain family member 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:1343966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21880625
1359383	Rassf1	Ras association domain family member 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1343966	D	RGD:2299865|PMID:17960617	20080818	RGD		DNA:hypermethylation:promoter	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15987713
1359383	Rassf1	Ras association domain family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343966	D	RGD:2291977|PMID:12222680	20080408	RGD			
1359383	Rassf1	Ras association domain family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343966	D	RGD:2299860|PMID:18702824	20080818	RGD		DNA:hypermethylation	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1343966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:19652091
1359383	Rassf1	Ras association domain family member 1	gene	DOID:1395	schistosomiasis		ISO	RGD:1343966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23527093
1359383	Rassf1	Ras association domain family member 1	gene	DOID:1612	breast cancer		ISO	RGD:1343966	D	RGD:2299869|PMID:18425370	20080818	RGD		DNA, mRNA, protein:hypermethylation, decreased expression:promoter, breast	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1343966	D	RGD:2299868|PMID:18483325	20080818	RGD		DNA:hypermethylation	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:1909	melanoma		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1343966	D	RGD:2299867|PMID:16545186	20080818	RGD		DNA:hypermethylation:promoter	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1343966	D	RGD:2299862|PMID:18480993	20080818	RGD		DNA, protein:hypermethylation, decreased expression:promoter, urinary bladder	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1343966	D	RGD:2299863|PMID:18469797	20080818	RGD		DNA, protein:hypermethylation, decreased expression:promoter,	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1343966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15639718
1359383	Rassf1	Ras association domain family member 1	gene	DOID:3070	high grade glioma		ISO	RGD:1343966	D	RGD:2291979|PMID:17325427	20080408	RGD			
1359383	Rassf1	Ras association domain family member 1	gene	DOID:3275	thymoma		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:365	bladder disease		ISO	RGD:1343966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23527093
1359383	Rassf1	Ras association domain family member 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1343966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337602
1359383	Rassf1	Ras association domain family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343966	D	RGD:2299861|PMID:18608185	20080818	RGD		associated with Papillomavirus Infections;DNA:hypermethylation:promoter	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1343966	D	RGD:2291977|PMID:12222680	20080408	RGD			
1359383	Rassf1	Ras association domain family member 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1343966	D	RGD:2299866|PMID:17645803	20080818	RGD		DNA:hypermethylation:promoter	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359383	Rassf1	Ras association domain family member 1	gene	DOID:769	neuroblastoma		ISO	RGD:1343966	D	RGD:2291977|PMID:12222680	20080408	RGD			
1359383	Rassf1	Ras association domain family member 1	gene	DOID:769	neuroblastoma		ISO	RGD:1343966	D	RGD:2291979|PMID:17325427	20080408	RGD			
1359383	Rassf1	Ras association domain family member 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1343966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20008439
1359383	Rassf1	Ras association domain family member 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1343966	D	RGD:2291979|PMID:17325427	20080408	RGD			
1359383	Rassf1	Ras association domain family member 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1343966	D	RGD:2291979|PMID:17325427	20080408	RGD			
1359383	Rassf1	Ras association domain family member 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1343966	D	RGD:2291977|PMID:12222680	20080408	RGD			
1359383	Rassf1	Ras association domain family member 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1343966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12082623|PMID:15639718
1359383	Rassf1	Ras association domain family member 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1343966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337602
1359383	Rassf1	Ras association domain family member 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1343966	D	RGD:2291977|PMID:12222680	20080408	RGD			
1359383	Rassf1	Ras association domain family member 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1343966	D	RGD:2291979|PMID:17325427	20080408	RGD			
1359383	Rassf1	Ras association domain family member 1	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1343966	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26410583
1359383	Rassf1	Ras association domain family member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1343966	D	RGD:2291977|PMID:12222680	20080408	RGD			
1359383	Rassf1	Ras association domain family member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1343966	D	RGD:2291979|PMID:17325427	20080408	RGD			
1359383	Rassf1	Ras association domain family member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359384	Galc	galactosylceramidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359384	Galc	galactosylceramidase	gene	DOID:0050952	spastic ataxia		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
1359384	Galc	galactosylceramidase	gene	DOID:10376	amblyopia		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
1359384	Galc	galactosylceramidase	gene	DOID:10534	stomach cancer		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:7240710	20130221	OMIM			
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32295525|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:34445196|PMID:35419325|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32295525|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:34445196|PMID:35013804|PMID:35419325|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35419325|PMID:35654103|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25741915|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:33190188|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29691679|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31589614|PMID:31885218|PMID:31980526|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:33190188|PMID:33547378|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34071213|PMID:34426522|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35212100|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:36380532|PMID:37597066|PMID:39825153|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29691679|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31589614|PMID:31885218|PMID:31980526|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:33190188|PMID:33547378|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34071213|PMID:34426522|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35212100|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:37597066|PMID:38693247|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29691679|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31589614|PMID:31885218|PMID:31980526|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:33190188|PMID:33547378|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34071213|PMID:34426522|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35212100|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:36380532|PMID:37597066|PMID:38693247|PMID:39825153|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: KRABBE DISEASE | ClinVar Annotator: match by term: Krabbe disease	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:14572137|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23620143|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24793135|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108143|PMID:26108647|PMID:26223439|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26840509|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638587|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28109651|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29691679|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30209698|PMID:30323943|PMID:30384423|PMID:30729410|PMID:30777126|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31589614|PMID:31885218|PMID:31980526|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32186243|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32709422|PMID:32763824|PMID:32912261|PMID:32973651|PMID:33150395|PMID:33176815|PMID:33178108|PMID:33190188|PMID:33191329|PMID:33547378|PMID:3362311|PMID:33832819|PMID:33948933|PMID:33989519|PMID:34012265|PMID:34055681|PMID:34065072|PMID:34071213|PMID:34445196|PMID:34449528|PMID:34869463|PMID:35002157|PMID:35012964|PMID:35013804|PMID:35212100|PMID:35286032|PMID:35419325|PMID:35586607|PMID:35614200|PMID:35654103|PMID:36057781|PMID:36113749|PMID:36200664|PMID:36380532|PMID:37434390|PMID:37597066|PMID:38515343|PMID:38693247|PMID:38730490|PMID:39184309|PMID:39499628|PMID:40355959|PMID:40449593|PMID:41276028|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1552188	D	RGD:38599167|PMID:2120388	20200911	RGD			
1359384	Galc	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISS	RGD:1552188	D	RGD:13592920	20230718	MouseDO		OMIM:245200	
1359384	Galc	galactosylceramidase	gene	DOID:1059	intellectual disability		ISO	RGD:1347926	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1359384	Galc	galactosylceramidase	gene	DOID:1115	sarcoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359384	Galc	galactosylceramidase	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:1347926	D	RGD:38599170|PMID:30009661	20200911	RGD		mRNA:decreased expression:frontal cortex (human)	
1359384	Galc	galactosylceramidase	gene	DOID:1324	lung cancer		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359384	Galc	galactosylceramidase	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1347926	D	RGD:38599168|PMID:27490360	20200911	RGD		associated with Guillain-Barre syndrome; protein:increased expression:serum (human)	
1359384	Galc	galactosylceramidase	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1347926	D	RGD:38599169|PMID:12225900	20200911	RGD		associated with Guillain-Barre syndrome; protein:increased expression:serum (human)	
1359384	Galc	galactosylceramidase	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1347926	D	RGD:38599171|PMID:30396892	20200911	RGD		protein:increased expression:serum (human)	
1359384	Galc	galactosylceramidase	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1347926	D	RGD:38599172|PMID:29301655	20200911	RGD		associated with Guillain-Barre syndrome; protein:increased expression:Cerebrospinal fluid, serum (human)	
1359384	Galc	galactosylceramidase	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1552188	D	RGD:38599171|PMID:30396892	20200911	RGD		protein:increased expression:serum (mouse)	
1359384	Galc	galactosylceramidase	gene	DOID:1826	epilepsy		ISO	RGD:1347926	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Epilepsy syndrome	
1359384	Galc	galactosylceramidase	gene	DOID:1909	melanoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359384	Galc	galactosylceramidase	gene	DOID:4362	cervical cancer		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359384	Galc	galactosylceramidase	gene	DOID:480	movement disease		ISO	RGD:1347926	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: movement disorder	
1359384	Galc	galactosylceramidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1347926	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359384	Galc	galactosylceramidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359384	Galc	galactosylceramidase	gene	DOID:630	genetic disease		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359384	Galc	galactosylceramidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359384	Galc	galactosylceramidase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347926	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359384	Galc	galactosylceramidase	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1347926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:24078576|PMID:25265039|PMID:25741868|PMID:28492532|PMID:28598007|PMID:31185936
1359384	Galc	galactosylceramidase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347926	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:23462331|PMID:25741868|PMID:28492532|PMID:31885218
1359384	Galc	galactosylceramidase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1347926	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:16607461|PMID:24252386|PMID:25741868|PMID:26795590|PMID:26865610|PMID:27126738|PMID:27638593|PMID:27679535|PMID:27780934|PMID:28492532|PMID:28598007|PMID:29951496|PMID:30089515|PMID:32064984|PMID:32677356|PMID:33178108|PMID:35654103|PMID:9272171|PMID:9371928
1359384	Galc	galactosylceramidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359384	Galc	galactosylceramidase	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1347926	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Complex febrile seizure	PMID:23462331|PMID:25741868|PMID:28492532|PMID:31885218
1359385	Dner	delta/notch-like EGF repeat containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359385	Dner	delta/notch-like EGF repeat containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359385	Dner	delta/notch-like EGF repeat containing	gene	DOID:1115	sarcoma		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359385	Dner	delta/notch-like EGF repeat containing	gene	DOID:1909	melanoma		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359385	Dner	delta/notch-like EGF repeat containing	gene	DOID:2394	ovarian cancer		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359385	Dner	delta/notch-like EGF repeat containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1605895	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359385	Dner	delta/notch-like EGF repeat containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359385	Dner	delta/notch-like EGF repeat containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359385	Dner	delta/notch-like EGF repeat containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359385	Dner	delta/notch-like EGF repeat containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359387	Tcp11	t-complex 11	gene	DOID:1115	sarcoma		ISO	RGD:1351114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359387	Tcp11	t-complex 11	gene	DOID:1324	lung cancer		ISO	RGD:1351114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1359387	Tcp11	t-complex 11	gene	DOID:4362	cervical cancer		ISO	RGD:1351114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359387	Tcp11	t-complex 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359387	Tcp11	t-complex 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359387	Tcp11	t-complex 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359389	Tmem18	transmembrane protein 18	gene	DOID:3083	chronic obstructive pulmonary disease	disease_progression	ISO	RGD:1344776	D	RGD:640476655|PMID:27118560	20260318	RGD		DNA:SNP: :rs6548238	
1359389	Tmem18	transmembrane protein 18	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359389	Tmem18	transmembrane protein 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1344776	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359389	Tmem18	transmembrane protein 18	gene	DOID:552	pneumonia	susceptibility	ISO	RGD:1344776	D	RGD:640476655|PMID:27118560	20260318	RGD		associated with chronic obstructive pulmonary disease; DNA:SNP: :rs6548238	
1359389	Tmem18	transmembrane protein 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359389	Tmem18	transmembrane protein 18	gene	DOID:9002209	Skull Fractures	ameliorates	IMP		D	RGD:640478526|PMID:31288024	20260320	RGD			
1359389	Tmem18	transmembrane protein 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359389	Tmem18	transmembrane protein 18	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1344776	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
1359389	Tmem18	transmembrane protein 18	gene	DOID:9970	obesity		IEP		D	RGD:6484210|PMID:21779089	20260320	RGD		mRNA:decreased expression:liver,soleus muscle	
1359389	Tmem18	transmembrane protein 18	gene	DOID:9970	obesity		ISO	RGD:1344776	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19079261
1359389	Tmem18	transmembrane protein 18	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1344776	D	RGD:640476654|PMID:28957450	20260318	RGD		DNA:SNP: :rs13021737	
1359389	Tmem18	transmembrane protein 18	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1344776	D	RGD:640478530|PMID:21952719	20260320	RGD		DNA:SNPs: : rs6548238, rs4854344	
1359389	Tmem18	transmembrane protein 18	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1344776	D	RGD:640478531|PMID:20380707	20260320	RGD		DNA:SNPs: : rs6548238, rs7561317	
1359391	Ficd	FIC domain protein adenylyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359391	Ficd	FIC domain protein adenylyltransferase	gene	DOID:0070644	hereditary spastic paraplegia 92		ISO	RGD:1602333	D	RGD:7240710	20240821	OMIM			
1359391	Ficd	FIC domain protein adenylyltransferase	gene	DOID:0070644	hereditary spastic paraplegia 92		ISO	RGD:1602333	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 92, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 92, autosomal recessive	PMID:25741868
1359391	Ficd	FIC domain protein adenylyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1602333	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer, somatic	
1359391	Ficd	FIC domain protein adenylyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359391	Ficd	FIC domain protein adenylyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602333	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359392	Desi2	desumoylating isopeptidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359392	Desi2	desumoylating isopeptidase 2	gene	DOID:1324	lung cancer		ISO	RGD:1603047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359392	Desi2	desumoylating isopeptidase 2	gene	DOID:1909	melanoma		ISO	RGD:1603047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359392	Desi2	desumoylating isopeptidase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359392	Desi2	desumoylating isopeptidase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359392	Desi2	desumoylating isopeptidase 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1603047	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:21667029
1359394	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359394	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359394	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:3275	thymoma		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359394	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359394	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359394	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359394	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1359394	Trub2	TruB pseudouridine synthase family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359395	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359395	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359395	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359395	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:1909	melanoma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359395	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1603691	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	
1359395	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:3070	high grade glioma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359395	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359395	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359395	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1359395	Dnajc16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050453	lissencephaly		ISO	RGD:1601994	D	RGD:11065022|PMID:17559086	20160916	RGD		DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple	
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1601994	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related	PMID:25741868|PMID:26467025|PMID:28492532
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:11065512|PMID:22554691	20160907	RGD		DNA:deletions, splice-site mutation:exon, intron:multiple	
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:11071487|PMID:15236414	20160907	RGD		DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human)	
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:11532772|PMID:23689641	20160907	RGD		DNA:missense mutations, nonsense mutation: :multiple	
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:11554173	20190709	CTD		CTD Direct Evidence: marker/mechanism	
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:1554293|PMID:11709191	20160907	RGD		DNA:missense mutations, splice-site mutations, deletions: :multiple	
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31230720|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:34426522|PMID:9536098
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31230720|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:34426522|PMID:35846108|PMID:9536098
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:16199547|PMID:17576681|PMID:19299310|PMID:20816175|PMID:21447391|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:28492532|PMID:28688748|PMID:34324503|PMID:9536098
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Muscle-eye-brain disease	PMID:12588800|PMID:17576681|PMID:19299310|PMID:20816175|PMID:21447391|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:28492532|PMID:28688748|PMID:28765568|PMID:33176815|PMID:34324503|PMID:9536098
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISS	RGD:1553166	D	RGD:13592920	20230718	MouseDO			
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050588	muscular dystrophy-dystroglycanopathy type B1		ISS	RGD:1601994	D	RGD:13592920	20220602	MouseDO		OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094	
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0061103	retinitis pigmentosa 76		ISO	RGD:1601994	D	RGD:7240710	20190315	OMIM			
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0061103	retinitis pigmentosa 76		ISO	RGD:1601994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 76	PMID:25741868
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O		ISO	RGD:1601994	D	RGD:7240710	20130221	OMIM			
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O		ISO	RGD:1601994	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED	PMID:12849864|PMID:15466003|PMID:16199547|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:19299310|PMID:20816175|PMID:21361872|PMID:21447391|PMID:22323514|PMID:24282183|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:28492532|PMID:28688748|PMID:30961548|PMID:34324503|PMID:9536098
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3		ISO	RGD:1601994	D	RGD:7240710	20190703	OMIM			
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3		ISO	RGD:1601994	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	PMID:16199547|PMID:19299310|PMID:20816175|PMID:21447391|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:28492532|PMID:35568357
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0112374	muscular dystrophy-dystroglycanopathy		ISO	RGD:1601994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy	PMID:25741868|PMID:31690835
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0112378	muscular dystrophy-dystroglycanopathy type B3		ISO	RGD:1601994	D	RGD:7240710	20130221	OMIM			
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0112378	muscular dystrophy-dystroglycanopathy type B3		ISO	RGD:1601994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:630	genetic disease		ISO	RGD:1601994	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:8501	fundus dystrophy		ISO	RGD:1601994	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1601994	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:9007402	Gliosis		ISO	RGD:1553166	D	RGD:11532765|PMID:21970971	20160907	RGD			
1359396	Pomgnt1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:9884	muscular dystrophy		ISO	RGD:1601994	D	RGD:1599152|PMID:17030669	20070117	RGD		DNA:missense mutations, nonsense mutation, snp:exons, intron:multiple (human)	
1359398	Srfbp1	serum response factor binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359398	Srfbp1	serum response factor binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359398	Srfbp1	serum response factor binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359398	Srfbp1	serum response factor binding protein 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1603357	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12417550|PMID:20929399|PMID:21612403|PMID:22722997|PMID:22911823|PMID:22948781|PMID:23758270|PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939|PMID:34281165|PMID:8100215
1359398	Srfbp1	serum response factor binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359398	Srfbp1	serum response factor binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359398	Srfbp1	serum response factor binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359398	Srfbp1	serum response factor binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359398	Srfbp1	serum response factor binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359398	Srfbp1	serum response factor binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359399	Gpc4	glypican 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359399	Gpc4	glypican 4	gene	DOID:0060248	Simpson-Golabi-Behmel syndrome type 1		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked	PMID:25741868
1359399	Gpc4	glypican 4	gene	DOID:0111842	Keipert syndrome		ISO	RGD:1347282	D	RGD:7240710	20190626	OMIM			
1359399	Gpc4	glypican 4	gene	DOID:0111842	Keipert syndrome		ISO	RGD:1347282	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GPC4-related condition | ClinVar Annotator: match by term: KEIPERT SYNDROME | ClinVar Annotator: match by term: Keipert syndrome | ClinVar Annotator: match by term: NASODIGITOACOUSTIC SYNDROME	PMID:25741868|PMID:30982611
1359399	Gpc4	glypican 4	gene	DOID:1115	sarcoma		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359399	Gpc4	glypican 4	gene	DOID:12849	autistic disorder		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868
1359399	Gpc4	glypican 4	gene	DOID:2154	nephroblastoma		ISO	RGD:1347282	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1359399	Gpc4	glypican 4	gene	DOID:2154	nephroblastoma		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wilms tumor, somatic	PMID:25741868
1359399	Gpc4	glypican 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359399	Gpc4	glypican 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359399	Gpc4	glypican 4	gene	DOID:630	genetic disease		ISO	RGD:1347282	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1359399	Gpc4	glypican 4	gene	DOID:9003816	Macrocephaly		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1359399	Gpc4	glypican 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359399	Gpc4	glypican 4	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1347282	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:31292255
1359399	Gpc4	glypican 4	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1347282	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
1359399	Gpc4	glypican 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359402	Krt84	keratin 84	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359402	Krt84	keratin 84	gene	DOID:1324	lung cancer		ISO	RGD:1343377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359402	Krt84	keratin 84	gene	DOID:4362	cervical cancer		ISO	RGD:1343377	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1349444	D	RGD:11554173	20230329	CTD		CTD Direct Evidence: marker/mechanism	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1349444	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Susceptibility to severe cutaneous adverse reaction	PMID:25741868
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:0050426	Stevens-Johnson syndrome	susceptibility	ISO	RGD:1349444	D	RGD:7240710	20230505	OMIM			
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:0060058	lymphoma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:0080600	COVID-19		ISO	RGD:1349444	D	RGD:9068941	20230330	RGD		mRNA:decreased expression:antibody secreting B cells (human)	PMID:32377375|REF_RGD_ID:32716422
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:10534	stomach cancer		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:10591	pre-eclampsia	susceptibility	ISO	RGD:1349444	D	RGD:9068941	20230921	RGD		DNA:SNPs::multiple	PMID:19727231|REF_RGD_ID:401827098
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:10591	pre-eclampsia	susceptibility	ISO	RGD:1349444	D	RGD:9068941	20230921	RGD		DNA:polymorphism::HLA-A24:02(human)	PMID:33126849|REF_RGD_ID:401827097
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:1115	sarcoma		ISO	RGD:1349444	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:1245	vulva cancer	susceptibility	ISO	RGD:1349444	D	RGD:9068941	20230330	RGD		associated with Papillomavirus Infections;DNA:polymorphism: :HLA-A2	PMID:12543794|REF_RGD_ID:2314696
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:12849	autistic disorder		ISO	RGD:1349444	D	RGD:11554173	20230329	CTD		CTD Direct Evidence: marker/mechanism	PMID:16720216
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:12918	thromboangiitis obliterans	susceptibility	ISO	RGD:1349444	D	RGD:9068941	20230928	RGD		DNA:polymorphisms,haplotypes::HLA���A*03:01,HLA���A*29:01 (human)	PMID:32567246|REF_RGD_ID:401827144
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:13099	Moyamoya disease	susceptibility	ISO	RGD:1349444	D	RGD:9068941	20230722	RGD		DNA:polymorphism:HLA-A02	PMID:22234791|REF_RGD_ID:329961315
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:13141	uveitis	susceptibility	ISO	RGD:1349444	D	RGD:9068941	20230928	RGD		associated with Behcet's disease; DNA:polymorphism:HLA-A*2601	PMID:20868569|REF_RGD_ID:401827143
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:1324	lung cancer		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:1588	thrombocytopenia		ISO	RGD:1349444	D	RGD:11554173	20230329	CTD		CTD Direct Evidence: marker/mechanism	PMID:3459889
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:1761	Melkersson-Rosenthal syndrome		ISO	RGD:1349444	D	RGD:9068941	20230921	RGD		protein:increased expression:peripheral blood (human)	PMID:32045706|REF_RGD_ID:329961316
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:1909	melanoma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:2394	ovarian cancer		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:2508	Takayasu's arteritis	susceptibility	ISO	RGD:1349444	D	RGD:9068941	20230921	RGD		DNA:polymorphism,haplotypes::HLA-A*3001 (human)	PMID:17428358|REF_RGD_ID:401827100
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:3070	high grade glioma		ISO	RGD:1349444	D	RGD:11554173	20230329	CTD		CTD Direct Evidence: marker/mechanism	PMID:14511464
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:3070	high grade glioma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:1349444	D	RGD:9068941	20230921	RGD		DNA:polymorphism::HLA-A31:01 (human)	PMID:24767290|REF_RGD_ID:401827096
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:1349444	D	RGD:9068941	20230330	RGD		associated with  acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31	PMID:19030725|REF_RGD_ID:36049809
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:419	scleroderma	susceptibility	ISO	RGD:1349444	D	RGD:9068941	20230720	RGD		DNA:polymorphisms:HLA-A30, 32	PMID:16078323|REF_RGD_ID:329961298
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:4362	cervical cancer		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:5041	esophageal cancer		ISO	RGD:1349444	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:525	central nervous system vasculitis	susceptibility	ISO	RGD:1349444	D	RGD:9068941	20230720	RGD		DNA:polymorphism:HLA-A69	PMID:28734234|REF_RGD_ID:329961297
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:6039	uveal melanoma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:635	acquired immunodeficiency syndrome	susceptibility	ISO	RGD:1349444	D	RGD:9068941	20230330	RGD		DNA:polymorphism: :HLA-A31	PMID:19030725|REF_RGD_ID:36049809
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1349444	D	RGD:11554173	20230329	CTD		CTD Direct Evidence: marker/mechanism	PMID:3459889
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1349444	D	RGD:11554173	20230329	CTD		CTD Direct Evidence: marker/mechanism	PMID:21570397|PMID:28043905
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:9088	parapsoriasis		ISO	RGD:1349444	D	RGD:11554173	20230329	CTD		CTD Direct Evidence: marker/mechanism	PMID:16538176
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:9256	colorectal cancer		ISO	RGD:1349444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359403	RT1-CE16	RT1 class I, locus CE16	gene	DOID:9538	multiple myeloma		ISO	RGD:1349444	D	RGD:11554173	20230329	CTD		CTD Direct Evidence: marker/mechanism	PMID:17283154
1359404	Rhno1	RAD9-HUS1-RAD1 interacting nuclear orphan 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359404	Rhno1	RAD9-HUS1-RAD1 interacting nuclear orphan 1	gene	DOID:3275	thymoma		ISO	RGD:1602857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359404	Rhno1	RAD9-HUS1-RAD1 interacting nuclear orphan 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602857	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359404	Rhno1	RAD9-HUS1-RAD1 interacting nuclear orphan 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359404	Rhno1	RAD9-HUS1-RAD1 interacting nuclear orphan 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359404	Rhno1	RAD9-HUS1-RAD1 interacting nuclear orphan 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359407	Chtop	chromatin target of PRMT1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359407	Chtop	chromatin target of PRMT1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359407	Chtop	chromatin target of PRMT1	gene	DOID:1324	lung cancer		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359407	Chtop	chromatin target of PRMT1	gene	DOID:1909	melanoma		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359407	Chtop	chromatin target of PRMT1	gene	DOID:4362	cervical cancer		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359407	Chtop	chromatin target of PRMT1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359407	Chtop	chromatin target of PRMT1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359407	Chtop	chromatin target of PRMT1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359407	Chtop	chromatin target of PRMT1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359407	Chtop	chromatin target of PRMT1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359408	Amt	aminomethyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359408	Amt	aminomethyltransferase	gene	DOID:0061001	glycine encephalopathy 2		ISO	RGD:1343884	D	RGD:7240710	20230614	OMIM			
1359408	Amt	aminomethyltransferase	gene	DOID:0061001	glycine encephalopathy 2		ISO	RGD:1343884	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLYCINE ENCEPHALOPATHY 2 | ClinVar Annotator: match by term: Glycine encephalopathy 2	PMID:16450403|PMID:23352163|PMID:25231368|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28244183|PMID:28492532|PMID:8005589|PMID:9621520
1359408	Amt	aminomethyltransferase	gene	DOID:0070616	glycine encephalopathy 1		ISO	RGD:1343884	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glycine encephalopathy 1	PMID:10873393|PMID:12948742|PMID:22171071|PMID:25741868|PMID:26179960|PMID:26467025|PMID:27362913|PMID:27620832|PMID:27884173|PMID:28492532|PMID:36471344
1359408	Amt	aminomethyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1343884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359408	Amt	aminomethyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1343884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359408	Amt	aminomethyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1343884	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359408	Amt	aminomethyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359408	Amt	aminomethyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1343884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11139253|PMID:12948742|PMID:25741868|PMID:27362913|PMID:27620832|PMID:28492532|PMID:30350008|PMID:33528079|PMID:34440436
1359408	Amt	aminomethyltransferase	gene	DOID:9002802	Acidoses		IDA		D	RGD:1599107|PMID:3877504	20070116	RGD			
1359408	Amt	aminomethyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359408	Amt	aminomethyltransferase	gene	DOID:9268	glycine encephalopathy		ISO	RGD:1343884	D	RGD:11073529|PMID:9621520	20170420	RGD		DNA:missense, deletion mutations:cds: 183delC,G955C (p.D276H)(human)	
1359408	Amt	aminomethyltransferase	gene	DOID:9268	glycine encephalopathy		ISO	RGD:1343884	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16450403
1359408	Amt	aminomethyltransferase	gene	DOID:9268	glycine encephalopathy		ISO	RGD:1343884	D	RGD:12879455|PMID:9600239	20170420	RGD		DNA:missense mutation:exon:p.H42R(human)	
1359408	Amt	aminomethyltransferase	gene	DOID:9268	glycine encephalopathy		ISO	RGD:1343884	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLYCINE ENCEPHALOPATHY | ClinVar Annotator: match by term: Glycine encephalopathy | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar Annotator: match by term: glycine encephalopathy	PMID:10451514|PMID:10873393|PMID:11139253|PMID:11286506|PMID:12948742|PMID:15272469|PMID:16051266|PMID:16199547|PMID:16450403|PMID:17576681|PMID:19299230|PMID:20301531|PMID:21520333|PMID:22171071|PMID:22261077|PMID:22532538|PMID:23352163|PMID:24033266|PMID:25231368|PMID:25640679|PMID:25741868|PMID:26179960|PMID:26371980|PMID:26467025|PMID:27164344|PMID:27362913|PMID:27620832|PMID:27884173|PMID:28244183|PMID:28462797|PMID:28492532|PMID:29300369|PMID:29789446|PMID:30105116|PMID:30350008|PMID:31319225|PMID:31395954|PMID:31589614|PMID:33101984|PMID:33528079|PMID:33726816|PMID:33791923|PMID:34440436|PMID:34568804|PMID:34630504|PMID:35357708|PMID:35616651|PMID:35646099|PMID:36471344|PMID:36964972|PMID:38259611|PMID:38589924|PMID:39206282|PMID:6179960|PMID:8005589|PMID:9536098|PMID:9600239
1359408	Amt	aminomethyltransferase	gene	DOID:9268	glycine encephalopathy	susceptibility	ISO	RGD:1343884	D	RGD:1599106|PMID:8005589	20070116	RGD			
1359409	Tmbim1	transmembrane BAX inhibitor motif containing 1	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1605964	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1359409	Tmbim1	transmembrane BAX inhibitor motif containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605964	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359410	Matn1	matrilin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359410	Matn1	matrilin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1352772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359410	Matn1	matrilin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359410	Matn1	matrilin 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1359411	Krt31	keratin 31	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315199	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359412	Ccdc172	coiled-coil domain containing 172	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1346141	D	RGD:8554872	20200707	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	
1359412	Ccdc172	coiled-coil domain containing 172	gene	DOID:10534	stomach cancer		ISO	RGD:1346141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359412	Ccdc172	coiled-coil domain containing 172	gene	DOID:1324	lung cancer		ISO	RGD:1346141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359412	Ccdc172	coiled-coil domain containing 172	gene	DOID:5041	esophageal cancer		ISO	RGD:1346141	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359412	Ccdc172	coiled-coil domain containing 172	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359412	Ccdc172	coiled-coil domain containing 172	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359413	Isg20l2	interferon stimulated exonuclease gene 20-like 2	gene	DOID:3275	thymoma		ISO	RGD:1601738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359413	Isg20l2	interferon stimulated exonuclease gene 20-like 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359413	Isg20l2	interferon stimulated exonuclease gene 20-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:0060937	dystonia 30		ISO	RGD:1345721	D	RGD:7240710	20210505	OMIM			
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:0060937	dystonia 30		ISO	RGD:1345721	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSTONIA 30 | ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-associated disorder | ClinVar Annotator: match by term: VPS16-related condition	PMID:16199547|PMID:25741868|PMID:28492532|PMID:32808683
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:10534	stomach cancer		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:1115	sarcoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:1324	lung cancer		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:3070	high grade glioma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:5041	esophageal cancer		ISO	RGD:1345721	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:630	genetic disease		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:870	neuropathy		ISO	RGD:1345721	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:9002720	Splenomegaly		ISO	RGD:1345721	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Splenomegaly	
1359414	Vps16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:0060214	frontotemporal dementia and/or amyotrophic lateral sclerosis 2		ISO	RGD:1347670	D	RGD:7240710	20151111	OMIM			
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:0060214	frontotemporal dementia and/or amyotrophic lateral sclerosis 2		ISO	RGD:1347670	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | ClinVar Annotator: match by term: frontotemporal dementia and/or amyotrophic lateral sclerosis 2	PMID:17576681|PMID:24934289|PMID:25113787|PMID:25155093|PMID:25261972|PMID:25576308|PMID:25681414|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26362910|PMID:26666268|PMID:27095681|PMID:28069311|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29249678|PMID:29315381|PMID:29519717|PMID:29789341|PMID:30014597|PMID:31690696|PMID:32651855|PMID:9536098
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:0080073	spina bifida occulta		ISO	RGD:1347670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	PMID:25741868|PMID:26719383
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:0080092	myofibrillar myopathy 1		ISO	RGD:1347670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy	PMID:25741868|PMID:26719383
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:0081356	spinal muscular atrophy, Jokela type		ISO	RGD:1347670	D	RGD:7240710	20150617	OMIM			
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:0081356	spinal muscular atrophy, Jokela type		ISO	RGD:1347670	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy, Jokela type | ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type	PMID:25113787|PMID:25155093|PMID:25261972|PMID:25576308|PMID:25681414|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26362910|PMID:26666268|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29315381|PMID:29789341|PMID:30014597|PMID:32651855
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:0081357	isolated mitochondrial myopathy		ISO	RGD:1347670	D	RGD:7240710	20170329	OMIM			
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:0081357	isolated mitochondrial myopathy		ISO	RGD:1347670	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance | ClinVar Annotator: match by term: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant	PMID:17576681|PMID:24934289|PMID:25113787|PMID:25155093|PMID:25261972|PMID:25576308|PMID:25681414|PMID:25700176|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26362910|PMID:26666268|PMID:27095681|PMID:27578015|PMID:28069311|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29249678|PMID:29315381|PMID:29519717|PMID:29789341|PMID:30014597|PMID:31690696|PMID:32651855|PMID:34544842|PMID:36284339|PMID:9536098
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:0081357	isolated mitochondrial myopathy		ISS	RGD:1558033	D	RGD:13592920	20240215	MouseDO		OMIM:616209	
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347670	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:24934289|PMID:25741868
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:10937	impulse control disorder		ISO	RGD:1347670	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Impulse control disorder	PMID:24934289|PMID:25741868
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:4362	cervical cancer		ISO	RGD:1347670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1347670	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:630	genetic disease		ISO	RGD:1347670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25155093|PMID:25576308|PMID:25726362|PMID:25741868|PMID:26362910|PMID:26666268|PMID:27095681|PMID:28492532|PMID:29315381|PMID:29519717|PMID:32651855
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:9001722	Dysarthria		ISO	RGD:1347670	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:24934289|PMID:25741868
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1347670	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:24934289|PMID:25741868
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:9004866	Ataxia		ISO	RGD:1347670	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:24934289|PMID:25741868
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:913	atrophic muscular disease		ISO	RGD:1347670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal lower limb amyotrophy	PMID:25741868|PMID:26719383
1359417	Chchd10	coiled-coil-helix-coiled-coil-helix domain containing 10	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1347670	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:24934289|PMID:25741868
1359418	Bhmt2	betaine-homocysteine S-methyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1352435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359418	Bhmt2	betaine-homocysteine S-methyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1352435	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359418	Bhmt2	betaine-homocysteine S-methyltransferase 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1352435	D	RGD:11097065|PMID:26612412	20230926	RGD		DNA:SNP: :rs2169650 (human)	
1359418	Bhmt2	betaine-homocysteine S-methyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359418	Bhmt2	betaine-homocysteine S-methyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359418	Bhmt2	betaine-homocysteine S-methyltransferase 2	gene	DOID:674	cleft palate		ISO	RGD:1352435	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21254359
1359418	Bhmt2	betaine-homocysteine S-methyltransferase 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1352435	D	RGD:152995286|PMID:30901224	20220614	RGD		mRNA:altered expression:liver tumor (human)	
1359418	Bhmt2	betaine-homocysteine S-methyltransferase 2	gene	DOID:9296	cleft lip		ISO	RGD:1352435	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21254359
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1343626	D	RGD:11039052|PMID:23280334	20160301	RGD		DNA:missense mutations:cds:multiple (human)	
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:0050908	myelodysplastic syndrome		ISS	RGD:1553658	D	RGD:13592920	20180518	MouseDO		OMIM:614286	
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1343626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:305	carcinoma		ISO	RGD:1343626	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343626	D	RGD:150429662|PMID:23071587	20210914	RGD		protein:increased expression:lung epithelium,nucleus	
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1343626	D	RGD:150429662|PMID:23071587	20210914	RGD		protein:increased expression:lung epithelium,nucleus	
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1343626	D	RGD:150429662|PMID:23071587	20210914	RGD			
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343626	D	RGD:11039407|PMID:21082031	20160303	RGD		mRNA:altered expression:kidney (human)	
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:5410	pulmonary neuroendocrine tumor		ISO	RGD:1343626	D	RGD:11039050|PMID:23518498	20160301	RGD		mRNA, protein:increased expression:lung (human)	
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:6000	congestive heart failure	disease_progression	ISO	RGD:1343626	D	RGD:155630627|PMID:33779075	20221026	RGD		DNA:mutations: :	
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:678	progressive supranuclear palsy		ISO	RGD:1343626	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25402454
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1553658	D	RGD:150429663|PMID:32372053	20210914	RGD			
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1343626	D	RGD:150429692|PMID:29278882	20210916	RGD			
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1343626	D	RGD:150429666|PMID:28082404	20210914	RGD			
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1343626	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:9000965	Neoplasm Metastasis	severity	ISO	RGD:1343626	D	RGD:150429692|PMID:29278882	20210916	RGD		associated with hepatocellular carcinoma	
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1343626	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:1343626	D	RGD:11039047|PMID:21764905	20160301	RGD		mRNA:increased expression:head and neck (human)	
1359422	Srsf2	serine and arginine rich splicing factor 2	gene	DOID:9119	acute myeloid leukemia	severity	ISO	RGD:1343626	D	RGD:11039017|PMID:22431577	20160229	RGD		DNA:mutations:multiple (human)	
1359423	Isyna1	inositol-3-phosphate synthase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359423	Isyna1	inositol-3-phosphate synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359423	Isyna1	inositol-3-phosphate synthase 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1605077	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1359423	Isyna1	inositol-3-phosphate synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359423	Isyna1	inositol-3-phosphate synthase 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1605077	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1359423	Isyna1	inositol-3-phosphate synthase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359423	Isyna1	inositol-3-phosphate synthase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359423	Isyna1	inositol-3-phosphate synthase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359423	Isyna1	inositol-3-phosphate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359423	Isyna1	inositol-3-phosphate synthase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605077	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359423	Isyna1	inositol-3-phosphate synthase 1	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1605077	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1359423	Isyna1	inositol-3-phosphate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359424	Ndrg3	NDRG family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359424	Ndrg3	NDRG family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359424	Ndrg3	NDRG family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359424	Ndrg3	NDRG family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1315300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359424	Ndrg3	NDRG family member 3	gene	DOID:1909	melanoma		ISO	RGD:1315300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359424	Ndrg3	NDRG family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359424	Ndrg3	NDRG family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359424	Ndrg3	NDRG family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359424	Ndrg3	NDRG family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359427	Eci2	enoyl-CoA delta isomerase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:1909	melanoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:9004657	Weight Gain		ISO	RGD:1605365	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:29220483
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359429	Fggy	FGGY carbohydrate kinase domain containing	gene	DOID:9970	obesity		ISO	RGD:1605365	D	RGD:11554173	20181225	CTD		CTD Direct Evidence: marker/mechanism	PMID:29220483
1359430	Atp6v1c2	ATPase H+ transporting V1 subunit C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359430	Atp6v1c2	ATPase H+ transporting V1 subunit C2	gene	DOID:10534	stomach cancer		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359430	Atp6v1c2	ATPase H+ transporting V1 subunit C2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359430	Atp6v1c2	ATPase H+ transporting V1 subunit C2	gene	DOID:1115	sarcoma		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359430	Atp6v1c2	ATPase H+ transporting V1 subunit C2	gene	DOID:1324	lung cancer		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359430	Atp6v1c2	ATPase H+ transporting V1 subunit C2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359430	Atp6v1c2	ATPase H+ transporting V1 subunit C2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359430	Atp6v1c2	ATPase H+ transporting V1 subunit C2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354342	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359430	Atp6v1c2	ATPase H+ transporting V1 subunit C2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359430	Atp6v1c2	ATPase H+ transporting V1 subunit C2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359430	Atp6v1c2	ATPase H+ transporting V1 subunit C2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359430	Atp6v1c2	ATPase H+ transporting V1 subunit C2	gene	DOID:9007406	Distal Renal Tubular Acidosis		ISO	RGD:1354342	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal renal tubular acidosis	PMID:31959358
1359430	Atp6v1c2	ATPase H+ transporting V1 subunit C2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359430	Atp6v1c2	ATPase H+ transporting V1 subunit C2	gene	DOID:9256	colorectal cancer		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359431	Bcap29	B-cell receptor-associated protein 29	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359432	Rnase2	ribonuclease A family member 2	gene	DOID:0080600	COVID-19		ISO	RGD:1349318	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1359433	Morn1	MORN repeat containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359433	Morn1	MORN repeat containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359433	Morn1	MORN repeat containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359433	Morn1	MORN repeat containing 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1602465	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1359433	Morn1	MORN repeat containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359433	Morn1	MORN repeat containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359433	Morn1	MORN repeat containing 1	gene	DOID:3275	thymoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359433	Morn1	MORN repeat containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359433	Morn1	MORN repeat containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602465	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359433	Morn1	MORN repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359433	Morn1	MORN repeat containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359433	Morn1	MORN repeat containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359433	Morn1	MORN repeat containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602465	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359433	Morn1	MORN repeat containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359435	Zfp157	zinc finger protein 157	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359435	Zfp157	zinc finger protein 157	gene	DOID:1909	melanoma		ISO	RGD:1344228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359435	Zfp157	zinc finger protein 157	gene	DOID:4362	cervical cancer		ISO	RGD:1344228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359435	Zfp157	zinc finger protein 157	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359436	Pigs	phosphatidylinositol glycan anchor biosynthesis, class S	gene	DOID:0070382	developmental and epileptic encephalopathy 95		ISO	RGD:1354267	D	RGD:7240710	20190315	OMIM			
1359436	Pigs	phosphatidylinositol glycan anchor biosynthesis, class S	gene	DOID:0070382	developmental and epileptic encephalopathy 95		ISO	RGD:1354267	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 95 | ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18 | ClinVar Annotator: match by term: PIGS-related condition	PMID:25741868|PMID:30269814|PMID:38959600
1359436	Pigs	phosphatidylinositol glycan anchor biosynthesis, class S	gene	DOID:10534	stomach cancer		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359436	Pigs	phosphatidylinositol glycan anchor biosynthesis, class S	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359436	Pigs	phosphatidylinositol glycan anchor biosynthesis, class S	gene	DOID:1115	sarcoma		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359436	Pigs	phosphatidylinositol glycan anchor biosynthesis, class S	gene	DOID:1324	lung cancer		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359436	Pigs	phosphatidylinositol glycan anchor biosynthesis, class S	gene	DOID:4362	cervical cancer		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359436	Pigs	phosphatidylinositol glycan anchor biosynthesis, class S	gene	DOID:5041	esophageal cancer		ISO	RGD:1354267	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359436	Pigs	phosphatidylinositol glycan anchor biosynthesis, class S	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359436	Pigs	phosphatidylinositol glycan anchor biosynthesis, class S	gene	DOID:630	genetic disease		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	
1359436	Pigs	phosphatidylinositol glycan anchor biosynthesis, class S	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359436	Pigs	phosphatidylinositol glycan anchor biosynthesis, class S	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359437	Tmed5	transmembrane p24 trafficking protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359437	Tmed5	transmembrane p24 trafficking protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1349482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359437	Tmed5	transmembrane p24 trafficking protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1349482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359437	Tmed5	transmembrane p24 trafficking protein 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359437	Tmed5	transmembrane p24 trafficking protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359438	Trim10	tripartite motif-containing 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359438	Trim10	tripartite motif-containing 10	gene	DOID:2772	irritant dermatitis		ISO	RGD:1349784	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27258892
1359438	Trim10	tripartite motif-containing 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359438	Trim10	tripartite motif-containing 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1349784	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359438	Trim10	tripartite motif-containing 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359439	Zcchc12	zinc finger CCHC-type containing 12	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1342670	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:30431698
1359440	Nufip1	nuclear FMR1 interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359440	Nufip1	nuclear FMR1 interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359440	Nufip1	nuclear FMR1 interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359440	Nufip1	nuclear FMR1 interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359440	Nufip1	nuclear FMR1 interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1347229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359440	Nufip1	nuclear FMR1 interacting protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359440	Nufip1	nuclear FMR1 interacting protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359440	Nufip1	nuclear FMR1 interacting protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359440	Nufip1	nuclear FMR1 interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347229	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359440	Nufip1	nuclear FMR1 interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359442	Lrwd1	leucine-rich repeats and WD repeat domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359442	Lrwd1	leucine-rich repeats and WD repeat domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359442	Lrwd1	leucine-rich repeats and WD repeat domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359442	Lrwd1	leucine-rich repeats and WD repeat domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1603534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359442	Lrwd1	leucine-rich repeats and WD repeat domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359442	Lrwd1	leucine-rich repeats and WD repeat domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603534	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359442	Lrwd1	leucine-rich repeats and WD repeat domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359442	Lrwd1	leucine-rich repeats and WD repeat domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359442	Lrwd1	leucine-rich repeats and WD repeat domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359442	Lrwd1	leucine-rich repeats and WD repeat domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359443	Ubald1	UBA-like domain containing 1	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:1604544	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1	PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532
1359443	Ubald1	UBA-like domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1604544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359443	Ubald1	UBA-like domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359443	Ubald1	UBA-like domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359444	Tspan3	tetraspanin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359444	Tspan3	tetraspanin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359444	Tspan3	tetraspanin 3	gene	DOID:1324	lung cancer		ISO	RGD:1602131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359444	Tspan3	tetraspanin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359444	Tspan3	tetraspanin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359444	Tspan3	tetraspanin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359444	Tspan3	tetraspanin 3	gene	DOID:9256	colorectal cancer		ISO	RGD:126736038	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:28492532
1359445	Klhdc8b	kelch domain containing 8B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359445	Klhdc8b	kelch domain containing 8B	gene	DOID:10534	stomach cancer		ISO	RGD:1602285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359445	Klhdc8b	kelch domain containing 8B	gene	DOID:1324	lung cancer		ISO	RGD:1602285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359445	Klhdc8b	kelch domain containing 8B	gene	DOID:1909	melanoma		ISO	RGD:1602285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359445	Klhdc8b	kelch domain containing 8B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359445	Klhdc8b	kelch domain containing 8B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359445	Klhdc8b	kelch domain containing 8B	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1602285	D	RGD:11554173	20190514	CTD		CTD Direct Evidence: marker/mechanism	
1359445	Klhdc8b	kelch domain containing 8B	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1602285	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HODGKIN LYMPHOMA | ClinVar Annotator: match by term: KLHDC8B-related condition	PMID:28492532
1359445	Klhdc8b	kelch domain containing 8B	gene	DOID:8567	Hodgkin's lymphoma	susceptibility	ISO	RGD:1602285	D	RGD:7240710	20190502	OMIM			
1359445	Klhdc8b	kelch domain containing 8B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359445	Klhdc8b	kelch domain containing 8B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359446	Tent5c	terminal nucleotidyltransferase 5C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359446	Tent5c	terminal nucleotidyltransferase 5C	gene	DOID:1115	sarcoma		ISO	RGD:1352086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359446	Tent5c	terminal nucleotidyltransferase 5C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359446	Tent5c	terminal nucleotidyltransferase 5C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359446	Tent5c	terminal nucleotidyltransferase 5C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359447	Nol10	nucleolar protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359447	Nol10	nucleolar protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1602460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359447	Nol10	nucleolar protein 10	gene	DOID:1115	sarcoma		ISO	RGD:1602460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359447	Nol10	nucleolar protein 10	gene	DOID:1324	lung cancer		ISO	RGD:1602460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359447	Nol10	nucleolar protein 10	gene	DOID:3275	thymoma		ISO	RGD:1602460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359447	Nol10	nucleolar protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1602460	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359447	Nol10	nucleolar protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359447	Nol10	nucleolar protein 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359447	Nol10	nucleolar protein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359447	Nol10	nucleolar protein 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359447	Nol10	nucleolar protein 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24656866|PMID:25471517|PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868|PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:0070073	autosomal dominant intellectual developmental disorder 43		ISO	RGD:1346181	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43	PMID:24656866|PMID:25741868|PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868|PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1346181	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:10892	hypospadias		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868|PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:10907	microcephaly		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1346181	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADHD | ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:24656866|PMID:25741868|PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:11446	sciatic neuropathy		IEP		D	RGD:12910554|PMID:25467976	20170620	RGD		mRNA,protein:decreased expression:dorsal root ganglion:	
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:1324	lung cancer		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:1826	epilepsy		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:24656866|PMID:25471517|PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:16199547|PMID:24656866|PMID:25471517|PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:540	strabismus		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1346181	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:24656866|PMID:25471517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32042906|PMID:33256324|PMID:9536098
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9001585	Intraventricular Hemorrhage		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intraventricular hemorrhage	PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1346181	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9002795	Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy		ISO	RGD:1346181	D	RGD:7240710	20170510	OMIM			
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9002795	Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy		ISO	RGD:1346181	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY | ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | ClinVar Annotator: match by term: QARS1-related condition	PMID:17576681|PMID:24656866|PMID:25471517|PMID:25741868|PMID:26467025|PMID:26869582|PMID:27572814|PMID:28492532|PMID:28620870|PMID:30755392|PMID:31618474|PMID:32042906|PMID:33057194|PMID:33256324|PMID:35304488|PMID:35982159|PMID:36672771|PMID:9536098
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:24656866|PMID:25471517|PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24656866|PMID:25471517|PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:28492532
1359448	Qars1	glutaminyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24656866|PMID:25471517|PMID:25741868|PMID:28492532
1359450	Tmem39b	transmembrane protein 39b	gene	DOID:1324	lung cancer		ISO	RGD:1351966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359450	Tmem39b	transmembrane protein 39b	gene	DOID:1909	melanoma		ISO	RGD:1351966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359450	Tmem39b	transmembrane protein 39b	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359450	Tmem39b	transmembrane protein 39b	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359450	Tmem39b	transmembrane protein 39b	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359450	Tmem39b	transmembrane protein 39b	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359450	Tmem39b	transmembrane protein 39b	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359451	Cenpq	centromere protein Q	gene	DOID:1115	sarcoma		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359451	Cenpq	centromere protein Q	gene	DOID:1324	lung cancer		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359451	Cenpq	centromere protein Q	gene	DOID:1909	melanoma		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359451	Cenpq	centromere protein Q	gene	DOID:4362	cervical cancer		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359451	Cenpq	centromere protein Q	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359451	Cenpq	centromere protein Q	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359452	Fam227b	family with sequence similarity 227, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359452	Fam227b	family with sequence similarity 227, member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359452	Fam227b	family with sequence similarity 227, member B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359452	Fam227b	family with sequence similarity 227, member B	gene	DOID:3275	thymoma		ISO	RGD:1605268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359452	Fam227b	family with sequence similarity 227, member B	gene	DOID:4362	cervical cancer		ISO	RGD:1605268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359452	Fam227b	family with sequence similarity 227, member B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359452	Fam227b	family with sequence similarity 227, member B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359452	Fam227b	family with sequence similarity 227, member B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359452	Fam227b	family with sequence similarity 227, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359452	Fam227b	family with sequence similarity 227, member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359452	Fam227b	family with sequence similarity 227, member B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1359452	Fam227b	family with sequence similarity 227, member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359452	Fam227b	family with sequence similarity 227, member B	gene	DOID:9256	colorectal cancer		ISO	RGD:1605268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359453	Cct6b	chaperonin containing TCP1 subunit 6B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359453	Cct6b	chaperonin containing TCP1 subunit 6B	gene	DOID:10534	stomach cancer		ISO	RGD:1345746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359453	Cct6b	chaperonin containing TCP1 subunit 6B	gene	DOID:1115	sarcoma		ISO	RGD:1345746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359453	Cct6b	chaperonin containing TCP1 subunit 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359453	Cct6b	chaperonin containing TCP1 subunit 6B	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:1345746	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143597
1359453	Cct6b	chaperonin containing TCP1 subunit 6B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359453	Cct6b	chaperonin containing TCP1 subunit 6B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:1599507|PMID:11062460	20070206	RGD			
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:12658451|PMID:12807974|PMID:15989954|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:31194233|PMID:31308404|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34558728|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:31194233|PMID:31308404|PMID:32035780|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34558728|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18491383|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25787132|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:32035780|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34110302|PMID:34439371|PMID:34558728|PMID:34750850|PMID:35171114|PMID:35441217|PMID:36091175|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34110302|PMID:34558728|PMID:34750850|PMID:35171114|PMID:35441217|PMID:36091175|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32688340|PMID:32751108|PMID:33332384|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35441217|PMID:35739278|PMID:36045543|PMID:36091175|PMID:36198483|PMID:36449569|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32688340|PMID:32751108|PMID:33332384|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35441217|PMID:35739278|PMID:36045543|PMID:36091175|PMID:36198483|PMID:36449569|PMID:36672771|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:11062460|PMID:12658451|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32688340|PMID:32751108|PMID:33332384|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35441217|PMID:35739278|PMID:36045543|PMID:36091175|PMID:36198483|PMID:36449569|PMID:36672771|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050773	paraganglioma		ISO	RGD:1354327	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:12658451|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19332149|PMID:19351833|PMID:19454582|PMID:22517554|PMID:22517557|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24758179|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26259135|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27011036|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:30201732|PMID:31308404|PMID:32751108|PMID:33676450|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35739278|PMID:36045543|PMID:36198483|PMID:36449569|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1354327	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1354327	D	RGD:7240710	20131030	OMIM			
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1354327	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25720320|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32688340|PMID:32751108|PMID:33332384|PMID:33372952|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35441217|PMID:35739278|PMID:36045543|PMID:36091175|PMID:36198483|PMID:36449569|PMID:36672771|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1354327	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 3 | ClinVar Annotator: match by term: paragangliomas 3	PMID:11062460|PMID:12658451|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25720320|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26259135|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27011036|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32751108|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35739278|PMID:36045543|PMID:36198483|PMID:36449569|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1354327	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1354327	D	RGD:7240710	20130425	OMIM			
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1354327	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor	PMID:12658451|PMID:12807974|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19454582|PMID:21173220|PMID:23083876|PMID:23282968|PMID:23342407|PMID:24033266|PMID:24402737|PMID:24423348|PMID:24523625|PMID:24758179|PMID:25024072|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27700540|PMID:28492532|PMID:28819017|PMID:30548481|PMID:34750850|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1354327	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: PARAGANGLIOMA AND GASTROINTESTINAL STROMAL TUMOR	PMID:17898811|PMID:19454582|PMID:23083876|PMID:23282968|PMID:24033266|PMID:24423348|PMID:24523625|PMID:24758179|PMID:25024072|PMID:25741868|PMID:26467025|PMID:26492543|PMID:27011036|PMID:27700540|PMID:28492532|PMID:28819017|PMID:34750850|PMID:36449569
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:10283	prostate cancer		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:25741868|PMID:28492532|PMID:29641532
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:1059	intellectual disability		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:11062460|PMID:16249420|PMID:19351833|PMID:19454582|PMID:22351710|PMID:22517554|PMID:23282968|PMID:25720320|PMID:25741868|PMID:28492532|PMID:30201732|PMID:30877234
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:12849	autistic disorder		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:11062460|PMID:16249420|PMID:19351833|PMID:19454582|PMID:22351710|PMID:22517554|PMID:23282968|PMID:25720320|PMID:25741868|PMID:28492532|PMID:30201732|PMID:30877234
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:1612	breast cancer		ISO	RGD:1354327	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cancer breast	PMID:23175444|PMID:24033266|PMID:24466223|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:2394	ovarian cancer		ISO	RGD:1354327	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:23175444|PMID:24033266|PMID:24466223|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1354327	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:23083876|PMID:24423348|PMID:24758179|PMID:25741868|PMID:27700540|PMID:28492532|PMID:33372952
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:3459	breast carcinoma		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:28492532|PMID:29641532
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:3652	Leigh disease		ISS	RGD:1553681	D	RGD:13592920	20200312	MouseDO		OMIM:256000	
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:3908	lung non-small cell carcinoma	exacerbates	ISO	RGD:1354327	D	RGD:150340558|PMID:25576295	20210815	RGD		DNA:SNP: 3'utr (rs12064957) (human)	
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:5041	esophageal cancer		ISO	RGD:1354327	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:1354327	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:12658451|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:19332149|PMID:19351833|PMID:19454582|PMID:22517554|PMID:22517557|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24758179|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26259135|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27011036|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:30201732|PMID:30548481|PMID:31308404|PMID:32751108|PMID:33676450|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35739278|PMID:36045543|PMID:36198483|PMID:36449569|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11062460|PMID:12658451|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17376234|PMID:17576681|PMID:17667967|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21822798|PMID:21979946|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:31308404|PMID:34558728|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17376234|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:31308404|PMID:34558728|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33397043|PMID:33748650|PMID:34558728|PMID:34663632|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18267044|PMID:18491383|PMID:18681855|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25720320|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27854218|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32144272|PMID:32688340|PMID:32751108|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33525650|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34663632|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35441217|PMID:35739278|PMID:36045543|PMID:36091175|PMID:36198483|PMID:36449569|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18267044|PMID:18491383|PMID:18681855|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25720320|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32144272|PMID:32688340|PMID:32751108|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33525650|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34663632|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35441217|PMID:35739278|PMID:36045543|PMID:36091175|PMID:36198483|PMID:36449569|PMID:36672771|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18267044|PMID:18491383|PMID:18681855|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25720320|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29504908|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32144272|PMID:32688340|PMID:32751108|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33525650|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34663632|PMID:34703596|PMID:34750850|PMID:35171114|PMID:35441217|PMID:35739278|PMID:36045543|PMID:36091175|PMID:36198483|PMID:36449569|PMID:36672771|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18267044|PMID:18491383|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24625421|PMID:24758179|PMID:24781345|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25720320|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32751108|PMID:33525650|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:35739278|PMID:36045543|PMID:36198483|PMID:36449569|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer predisposing syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18267044|PMID:18491383|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:21106325|PMID:21173220|PMID:21822798|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24523625|PMID:24625421|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25720320|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31666924|PMID:32751108|PMID:33525650|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35739278|PMID:36045543|PMID:36198483|PMID:36449569|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354327	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18267044|PMID:18491383|PMID:19332149|PMID:19351833|PMID:19454582|PMID:21173220|PMID:21822798|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24758179|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25720320|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27011036|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:28202063|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:30201732|PMID:30877234|PMID:31308404|PMID:31666924|PMID:32751108|PMID:33525650|PMID:33676450|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35739278|PMID:36045543|PMID:36198483|PMID:36449569|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9007167	Carney Triad		ISO	RGD:1354327	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carney triad	PMID:12658451|PMID:17576681|PMID:17667967|PMID:17804857|PMID:19351833|PMID:21173220|PMID:21822798|PMID:24402737|PMID:24758179|PMID:26173966|PMID:28492532|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1354327	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1354327	D	RGD:7240710	20130221	OMIM			
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1354327	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17376234|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1354327	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25787132|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1354327	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25787132|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:35441217|PMID:9536098
1359454	Sdhc	succinate dehydrogenase complex subunit C	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1354327	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19763152|PMID:20307669|PMID:21520333|PMID:22136840|PMID:22351710|PMID:22406018|PMID:22517554|PMID:22517557|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24758179|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25640679|PMID:25720320|PMID:25741868|PMID:25950479|PMID:26162468|PMID:26173966|PMID:26259135|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27011036|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:28202063|PMID:28492532|PMID:28552549|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:30050099|PMID:30201732|PMID:30877234|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32462735|PMID:32688340|PMID:32751108|PMID:33397043|PMID:33676450|PMID:33748650|PMID:34110302|PMID:34301805|PMID:34308366|PMID:34558728|PMID:34703596|PMID:34750850|PMID:35739278|PMID:35870552|PMID:36045543|PMID:36198483|PMID:36449569|PMID:37873498|PMID:9536098
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:0060795	hypomyelinating leukodystrophy 13		ISO	RGD:1604822	D	RGD:7240710	20190315	OMIM			
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:0060795	hypomyelinating leukodystrophy 13		ISO	RGD:1604822	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 13 | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 13	PMID:25741868|PMID:26545878|PMID:28492532|PMID:31912665|PMID:34111619|PMID:35032046|PMID:37267771|PMID:37965292
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:10534	stomach cancer		ISO	RGD:1604822	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:1115	sarcoma		ISO	RGD:1604822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:1324	lung cancer		ISO	RGD:1604822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:1826	epilepsy		ISO	RGD:1604822	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:1909	melanoma		ISO	RGD:1604822	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:4362	cervical cancer		ISO	RGD:1604822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604822	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:630	genetic disease		ISO	RGD:1604822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25760597|PMID:28492532|PMID:39317134
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1604822	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:9000918	Disease Progression		ISO	RGD:1604822	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604822	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1359455	Hikeshi	heat shock protein nuclear import factor hikeshi	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604822	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868
1359456	Tmx2	thioredoxin-related transmembrane protein 2	gene	DOID:9006716	Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity		ISO	RGD:1603042	D	RGD:7240710	20200226	OMIM			
1359458	Chpf	chondroitin polymerizing factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359458	Chpf	chondroitin polymerizing factor	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1603198	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1359458	Chpf	chondroitin polymerizing factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359458	Chpf	chondroitin polymerizing factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359459	Galm	galactose mutarotase	gene	DOID:0060969	galactosemia 4		ISO	RGD:1350990	D	RGD:7240710	20200520	OMIM			
1359459	Galm	galactose mutarotase	gene	DOID:0060969	galactosemia 4		ISO	RGD:1350990	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: GALACTOSEMIA IV | ClinVar Annotator: match by term: GALM-related condition | ClinVar Annotator: match by term: Galactosemia 4	PMID:25741868|PMID:28492532|PMID:30451973|PMID:30910422
1359459	Galm	galactose mutarotase	gene	DOID:10534	stomach cancer		ISO	RGD:1350990	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359459	Galm	galactose mutarotase	gene	DOID:1909	melanoma		ISO	RGD:1350990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359459	Galm	galactose mutarotase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359459	Galm	galactose mutarotase	gene	DOID:3275	thymoma		ISO	RGD:1350990	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359459	Galm	galactose mutarotase	gene	DOID:630	genetic disease		ISO	RGD:1350990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1359459	Galm	galactose mutarotase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350990	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359459	Galm	galactose mutarotase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359460	Noa1	nitric oxide associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359460	Noa1	nitric oxide associated 1	gene	DOID:1115	sarcoma		ISO	RGD:1354431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359460	Noa1	nitric oxide associated 1	gene	DOID:1909	melanoma		ISO	RGD:1354431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359460	Noa1	nitric oxide associated 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359460	Noa1	nitric oxide associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359460	Noa1	nitric oxide associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:0050741	alcohol dependence		IEP		D	RGD:616363144|PMID:34965406	20250530	RGD		mRNA:decreased expression:hippocampus (rat)	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1343376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADHD	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:12849	autistic disorder		ISO	RGD:1343376	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:1324	lung cancer		ISO	RGD:1343376	D	RGD:151356746|PMID:25592173	20220215	RGD		DNA:SNP:rs60507107 (human)	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:1324	lung cancer		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:1574	alcohol use disorder		IEP		D	RGD:405096486|PMID:32057593	20250529	RGD		mRNA:increased expression:hippocampus	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:1909	melanoma		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1343376	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1343376	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:630	genetic disease		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:35737950
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:9006032	NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE		ISO	RGD:1343376	D	RGD:7240710	20240508	OMIM			
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:9006032	NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE		ISO	RGD:1343376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DAGLA-related condition | ClinVar Annotator: match by term: NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE	PMID:25741868|PMID:28492532
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359461	Dagla	diacylglycerol lipase, alpha	gene	DOID:9975	cocaine dependence		IEP		D	RGD:616363144|PMID:34965406	20250530	RGD		mRNA:increased ecxpression:pefrontal cortex (rat)	
1359463	Mfap3	microfibril associated protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359463	Mfap3	microfibril associated protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359463	Mfap3	microfibril associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359463	Mfap3	microfibril associated protein 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1350797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1359464	Lrg1	leucine-rich alpha-2-glycoprotein 1	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1349039	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25200834
1359464	Lrg1	leucine-rich alpha-2-glycoprotein 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1349039	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
1359464	Lrg1	leucine-rich alpha-2-glycoprotein 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1349039	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34677723
1359464	Lrg1	leucine-rich alpha-2-glycoprotein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359464	Lrg1	leucine-rich alpha-2-glycoprotein 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1349039	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25200834
1359464	Lrg1	leucine-rich alpha-2-glycoprotein 1	gene	DOID:9007806	Drug Hypersensitivity Syndrome		ISO	RGD:1349039	D	RGD:11554173	20211109	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1342520	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:25741868|PMID:28492532|PMID:29068549|PMID:29241935|PMID:36268591|PMID:36653407
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1342520	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:24183449|PMID:24183451|PMID:28492532
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:0110087	asphyxiating thoracic dystrophy 3		ISO	RGD:1342520	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3	
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:0110095	short-rib thoracic dysplasia 11 with or without polydactyly		ISO	RGD:1342520	D	RGD:7240710	20140911	OMIM			
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:0110095	short-rib thoracic dysplasia 11 with or without polydactyly		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYNC2I2-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly	PMID:16199547|PMID:17576681|PMID:24183449|PMID:24183451|PMID:25741868|PMID:28379358|PMID:28492532|PMID:29068549|PMID:29241935|PMID:31130284|PMID:32576942|PMID:36268591|PMID:36653407|PMID:9536098
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:1115	sarcoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:1324	lung cancer		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	PMID:28492532
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:1909	melanoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:24183451|PMID:25741868|PMID:28492532|PMID:9536098
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:630	genetic disease		ISO	RGD:1342520	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17576681|PMID:24183451|PMID:25741868|PMID:28492532|PMID:9536098
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1342520	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1359465	Dync2i2	dynein 2 intermediate chain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359466	Cxxc5	CXXC finger protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359467	Rcor2	REST corepressor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359467	Rcor2	REST corepressor 2	gene	DOID:1115	sarcoma		ISO	RGD:1353932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359467	Rcor2	REST corepressor 2	gene	DOID:1909	melanoma		ISO	RGD:1353932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359467	Rcor2	REST corepressor 2	gene	DOID:3275	thymoma		ISO	RGD:1353932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359467	Rcor2	REST corepressor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359467	Rcor2	REST corepressor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359468	Fdcsp	follicular dendritic cell secreted protein	gene	DOID:1909	melanoma		ISO	RGD:1353265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359468	Fdcsp	follicular dendritic cell secreted protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359468	Fdcsp	follicular dendritic cell secreted protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:0080600	COVID-19		ISO	RGD:1349487	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:1909	melanoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:3275	thymoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349487	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359469	Mib2	MIB E3 ubiquitin protein ligase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359470	Poteg	POTE ankyrin domain family, member G	gene	DOID:1324	lung cancer		ISO	RGD:1605777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359471	Morf4l2	mortality factor 4 like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359471	Morf4l2	mortality factor 4 like 2	gene	DOID:1115	sarcoma		ISO	RGD:1347861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359471	Morf4l2	mortality factor 4 like 2	gene	DOID:3275	thymoma		ISO	RGD:1347861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359471	Morf4l2	mortality factor 4 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359472	Rdx	radixin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359472	Rdx	radixin	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1348654	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29341352
1359472	Rdx	radixin	gene	DOID:0110482	autosomal recessive nonsyndromic deafness 24		ISO	RGD:1348654	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359472	Rdx	radixin	gene	DOID:0110482	autosomal recessive nonsyndromic deafness 24		ISO	RGD:1348654	D	RGD:7240710	20141216	OMIM			
1359472	Rdx	radixin	gene	DOID:0110482	autosomal recessive nonsyndromic deafness 24		ISO	RGD:1348654	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 24 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE, 24 | ClinVar Annotator: match by term: RDX-related condition	PMID:12068294|PMID:17226784|PMID:19215054|PMID:22567349|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:31250571|PMID:32747562
1359472	Rdx	radixin	gene	DOID:10534	stomach cancer		ISO	RGD:1348654	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359472	Rdx	radixin	gene	DOID:12308	Dubin-Johnson syndrome		ISS	RGD:1553217	D	RGD:13592920	20180518	MouseDO		OMIM:237500	
1359472	Rdx	radixin	gene	DOID:13580	cholestasis		ISO	RGD:1348654	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17681005
1359472	Rdx	radixin	gene	DOID:1909	melanoma		ISO	RGD:1348654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359472	Rdx	radixin	gene	DOID:4362	cervical cancer		ISO	RGD:1348654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359472	Rdx	radixin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359472	Rdx	radixin	gene	DOID:5041	esophageal cancer		ISO	RGD:1348654	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359472	Rdx	radixin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359472	Rdx	radixin	gene	DOID:630	genetic disease		ISO	RGD:1348654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:28492532
1359472	Rdx	radixin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348654	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
1359473	Thap4	THAP domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359473	Thap4	THAP domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359473	Thap4	THAP domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359473	Thap4	THAP domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359473	Thap4	THAP domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359473	Thap4	THAP domain containing 4	gene	DOID:3070	high grade glioma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359473	Thap4	THAP domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359473	Thap4	THAP domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359474	Map3k7cl	MAP3K7 C-terminal like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359474	Map3k7cl	MAP3K7 C-terminal like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359475	Pole3	DNA polymerase epsilon 3, accessory subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359475	Pole3	DNA polymerase epsilon 3, accessory subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1344068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:0111163	molybdenum cofactor deficiency type B		ISO	RGD:1347583	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:0111163	molybdenum cofactor deficiency type B		ISO	RGD:1347583	D	RGD:7240710	20141015	OMIM			
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:0111163	molybdenum cofactor deficiency type B		ISO	RGD:1347583	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MOCS2-related condition | ClinVar Annotator: match by term: MOLYBDENUM COFACTOR DEFICIENCY, TYPE B1 | ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B	PMID:10053004|PMID:10746556|PMID:11746050|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21031595|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:0111163	molybdenum cofactor deficiency type B		ISS	RGD:1553221	D	RGD:13592920	20230718	MouseDO		OMIM:252160	
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:0111165	molybdenum cofactor deficiency		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Molybdenum cofactor deficiency	PMID:16021469|PMID:25709896|PMID:25741868|PMID:28492532|PMID:31201073|PMID:35692435
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:0111270	isolated sulfite oxidase deficiency		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sulfite oxidase deficiency	PMID:10053004|PMID:10746556|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:10053004|PMID:10746556|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:1909	melanoma		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:4724	brain edema		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral edema	PMID:10053004|PMID:10746556|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:630	genetic disease		ISO	RGD:1347583	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1347583	D	RGD:1556492|PMID:10053004	20070511	RGD		molybdenum cofactor deficiency, complementation group B,OMIM: 252150	
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:8442	paralytic ileus		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paralytic ileus	PMID:10053004|PMID:10746556|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:10053004|PMID:10746556|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:10053004|PMID:10746556|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
1359477	Mocs2	molybdenum cofactor synthesis 2	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1347583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematochezia	PMID:10053004|PMID:10746556|PMID:12754701|PMID:16021469|PMID:17576681|PMID:21907887|PMID:22403017|PMID:23539623|PMID:25741868|PMID:26644055|PMID:28492532|PMID:28900816|PMID:30900395|PMID:31201073|PMID:35192225|PMID:37596007|PMID:39400946|PMID:9536098
1359478	Arrdc3	arrestin domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359478	Arrdc3	arrestin domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359478	Arrdc3	arrestin domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1348140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359478	Arrdc3	arrestin domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1348140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359478	Arrdc3	arrestin domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348140	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359478	Arrdc3	arrestin domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1348140	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359478	Arrdc3	arrestin domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359478	Arrdc3	arrestin domain containing 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1348140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1359478	Arrdc3	arrestin domain containing 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1348140	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25038754
1359478	Arrdc3	arrestin domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359478	Arrdc3	arrestin domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359481	Tceanc2	transcription elongation factor A N-terminal and central domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359481	Tceanc2	transcription elongation factor A N-terminal and central domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359481	Tceanc2	transcription elongation factor A N-terminal and central domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359481	Tceanc2	transcription elongation factor A N-terminal and central domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359482	Tinag	tubulointerstitial nephritis antigen	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359482	Tinag	tubulointerstitial nephritis antigen	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359482	Tinag	tubulointerstitial nephritis antigen	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359482	Tinag	tubulointerstitial nephritis antigen	gene	DOID:5041	esophageal cancer		ISO	RGD:1346434	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359482	Tinag	tubulointerstitial nephritis antigen	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1346434	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19634143
1359482	Tinag	tubulointerstitial nephritis antigen	gene	DOID:9256	colorectal cancer		ISO	RGD:1346434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359485	Ctnna1	catenin alpha 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1348842	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
1359485	Ctnna1	catenin alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:0060863	patterned macular dystrophy		ISO	RGD:1348842	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26691986
1359485	Ctnna1	catenin alpha 1	gene	DOID:0060864	patterned macular dystrophy 2		ISO	RGD:1348842	D	RGD:7240710	20190315	OMIM			
1359485	Ctnna1	catenin alpha 1	gene	DOID:0060864	patterned macular dystrophy 2		ISO	RGD:1348842	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CTNNA1-related condition | ClinVar Annotator: match by term: MACULAR DYSTROPHY, PATTERNED, 2 | ClinVar Annotator: match by term: Patterned macular dystrophy 2	PMID:25741868|PMID:26691986|PMID:28492532|PMID:32051609|PMID:34425242|PMID:37734845
1359485	Ctnna1	catenin alpha 1	gene	DOID:0060864	patterned macular dystrophy 2		ISS	RGD:1553700	D	RGD:13592920	20230718	MouseDO		OMIM:608970	
1359485	Ctnna1	catenin alpha 1	gene	DOID:0080143	congenital fibrosis of the extraocular muscles		ISO	RGD:1348842	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles	PMID:25741868
1359485	Ctnna1	catenin alpha 1	gene	DOID:0080764	hereditary diffuse gastric cancer		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:0111685	hereditary mixed polyposis syndrome 1		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1348842	D	RGD:2289791|PMID:17639504	20080211	RGD			
1359485	Ctnna1	catenin alpha 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1348842	D	RGD:2289793|PMID:16334164	20080211	RGD		protein:decreased expression:prostate gland	
1359485	Ctnna1	catenin alpha 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359485	Ctnna1	catenin alpha 1	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1348842	D	RGD:2289491|PMID:17760743	20080211	RGD			
1359485	Ctnna1	catenin alpha 1	gene	DOID:11162	respiratory failure		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:11830	myopia		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:12176	goiter		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:1324	lung cancer		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359485	Ctnna1	catenin alpha 1	gene	DOID:1612	breast cancer		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1359485	Ctnna1	catenin alpha 1	gene	DOID:1909	melanoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359485	Ctnna1	catenin alpha 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1348842	D	RGD:2298486|PMID:16426728	20080701	RGD			
1359485	Ctnna1	catenin alpha 1	gene	DOID:2841	asthma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:3275	thymoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359485	Ctnna1	catenin alpha 1	gene	DOID:3457	invasive lobular carcinoma		ISO	RGD:1348842	D	RGD:2289795|PMID:12047765	20080211	RGD		protein:decreased expression:breast	
1359485	Ctnna1	catenin alpha 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:25741868|PMID:27153395|PMID:28492532|PMID:30515673|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:3905	lung carcinoma		IEP		D	RGD:2289804|PMID:15195114	20080211	RGD			
1359485	Ctnna1	catenin alpha 1	gene	DOID:420	hypertrichosis		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359485	Ctnna1	catenin alpha 1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1348842	D	RGD:2289799|PMID:9355975	20080211	RGD		protein:decreased expression:kidney	
1359485	Ctnna1	catenin alpha 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359485	Ctnna1	catenin alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348842	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359485	Ctnna1	catenin alpha 1	gene	DOID:5041	esophageal cancer	disease_progression	IEP		D	RGD:2289811|PMID:9863006	20080212	RGD			
1359485	Ctnna1	catenin alpha 1	gene	DOID:5374	pilomatrixoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilomatrixoma	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:5419	schizophrenia		ISO	RGD:1348842	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1359485	Ctnna1	catenin alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359485	Ctnna1	catenin alpha 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:7765	Coats disease		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exudative retinopathy	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28041643|PMID:28492532|PMID:32051609|PMID:32581362|PMID:33137351|PMID:38219857
1359485	Ctnna1	catenin alpha 1	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:1348842	D	RGD:2289797|PMID:11161853	20080211	RGD		protein:decreased expression:uterine cervix	
1359485	Ctnna1	catenin alpha 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1348842	D	RGD:2289795|PMID:12047765	20080211	RGD		associated with Breast Neoplasms	
1359485	Ctnna1	catenin alpha 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:9002189	High Myopia		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1348842	D	RGD:2289798|PMID:9522220	20080211	RGD		protein:decreased expression:ovary	
1359485	Ctnna1	catenin alpha 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1348842	D	RGD:2289797|PMID:11161853	20080211	RGD		protein:decreased expression:uterine cervix	
1359485	Ctnna1	catenin alpha 1	gene	DOID:9004692	Fused Teeth		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teeth, fused	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359485	Ctnna1	catenin alpha 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348842	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:18487285|PMID:19279422|PMID:21643010|PMID:23208944|PMID:25741868|PMID:26182300|PMID:26691986|PMID:26845104|PMID:28166811|PMID:28455161|PMID:28492532|PMID:29330337|PMID:9536098
1359485	Ctnna1	catenin alpha 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348842	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26691986|PMID:26845104|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:9536098
1359485	Ctnna1	catenin alpha 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348842	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26691986|PMID:26845104|PMID:27153395|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:33497368|PMID:9536098
1359485	Ctnna1	catenin alpha 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348842	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26182300|PMID:26689913|PMID:26691986|PMID:26845104|PMID:27153395|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:33497368|PMID:34326862|PMID:34425242|PMID:9536098
1359485	Ctnna1	catenin alpha 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348842	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26182300|PMID:26689913|PMID:26691986|PMID:26845104|PMID:27153395|PMID:28041643|PMID:28106320|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32581362|PMID:32717343|PMID:33137351|PMID:33435129|PMID:33497368|PMID:34326862|PMID:34425242|PMID:35957908|PMID:37734845|PMID:9536098
1359485	Ctnna1	catenin alpha 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26691986|PMID:26845104|PMID:28492532|PMID:32051609|PMID:34425242|PMID:38127826|PMID:9536098
1359485	Ctnna1	catenin alpha 1	gene	DOID:9007715	Endometrial Neoplasms	disease_progression	ISO	RGD:1348842	D	RGD:2298485|PMID:16803534	20080701	RGD			
1359485	Ctnna1	catenin alpha 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1348842	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:31292255
1359485	Ctnna1	catenin alpha 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1348842	D	RGD:2289792|PMID:17223851	20080211	RGD		protein:decreased expression:breast	
1359485	Ctnna1	catenin alpha 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1348842	D	RGD:2289796|PMID:11431364	20080211	RGD		protein:increased expression:breast	
1359485	Ctnna1	catenin alpha 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348842	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
1359485	Ctnna1	catenin alpha 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359485	Ctnna1	catenin alpha 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1348842	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1359485	Ctnna1	catenin alpha 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1348842	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1348842	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
1359485	Ctnna1	catenin alpha 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:32051609|PMID:34425242
1359485	Ctnna1	catenin alpha 1	gene	DOID:9970	obesity		ISO	RGD:1348842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1359486	Mospd1	motile sperm domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359486	Mospd1	motile sperm domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359486	Mospd1	motile sperm domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359486	Mospd1	motile sperm domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359486	Mospd1	motile sperm domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359488	Ecsit	ECSIT signaling integrator	gene	DOID:4362	cervical cancer		ISO	RGD:1602709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359488	Ecsit	ECSIT signaling integrator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359488	Ecsit	ECSIT signaling integrator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359488	Ecsit	ECSIT signaling integrator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359489	Nub1	negative regulator of ubiquitin-like proteins 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359489	Nub1	negative regulator of ubiquitin-like proteins 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359489	Nub1	negative regulator of ubiquitin-like proteins 1	gene	DOID:0060058	lymphoma		ISO	RGD:1602112	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359489	Nub1	negative regulator of ubiquitin-like proteins 1	gene	DOID:1115	sarcoma		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359489	Nub1	negative regulator of ubiquitin-like proteins 1	gene	DOID:1324	lung cancer		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359489	Nub1	negative regulator of ubiquitin-like proteins 1	gene	DOID:1909	melanoma		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359489	Nub1	negative regulator of ubiquitin-like proteins 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359489	Nub1	negative regulator of ubiquitin-like proteins 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359489	Nub1	negative regulator of ubiquitin-like proteins 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359489	Nub1	negative regulator of ubiquitin-like proteins 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359490	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359490	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:0112117	combined oxidative phosphorylation deficiency 40		ISO	RGD:1343877	D	RGD:7240710	20200429	OMIM			
1359490	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:0112117	combined oxidative phosphorylation deficiency 40		ISO	RGD:1343877	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 | ClinVar Annotator: match by term: QRSL1-related disorder | ClinVar Annotator: match by term: combined oxidative phosphorylation deficiency 40	PMID:17576681|PMID:25741868|PMID:26741492|PMID:28492532|PMID:29440775|PMID:30283131|PMID:9536098
1359490	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:1324	lung cancer		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359490	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359490	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:4362	cervical cancer		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359490	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343877	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359490	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359490	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:630	genetic disease		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1359490	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359490	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359490	Qrsl1	glutaminyl-tRNA amidotransferase subunit QRSL1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350605	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1350605	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26507003
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1350605	D	RGD:2292435|PMID:17205510	20080418	RGD		mRNA, protein:increased expression:urinary bladder	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:3070	high grade glioma		ISO	RGD:1350605	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506701
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:3308	embryonal carcinoma		ISO	RGD:1350605	D	RGD:2292431|PMID:18045648	20080417	RGD			
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:3308	embryonal carcinoma		ISO	RGD:1350605	D	RGD:2292433|PMID:17549357	20080417	RGD		DNA:hypomethylation:promoter	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:3590	gestational trophoblastic neoplasm		ISO	RGD:1350605	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18440631
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:4440	seminoma		ISO	RGD:1350605	D	RGD:2292429|PMID:18162782	20080417	RGD		protein:increased expression:chest	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:4440	seminoma		ISO	RGD:1350605	D	RGD:2292432|PMID:17785371	20080417	RGD		mRNA, protein:increased expression:testis	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:4440	seminoma		ISO	RGD:1350605	D	RGD:2292433|PMID:17549357	20080417	RGD		DNA:hypomethylation:promoter	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:4441	dysgerminoma		ISO	RGD:1350605	D	RGD:2292443|PMID:15371950	20080418	RGD			
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:670	amphetamine abuse		ISO	RGD:1350605	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:8719	in situ carcinoma		ISO	RGD:1350605	D	RGD:2292428|PMID:17996359	20080417	RGD		associated with Testicular Neoplasms;protein:increased expression:semen	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1350605	D	RGD:2292442|PMID:15386301	20080418	RGD		associated with Seminoma; associated with Carcinoma, Embryonal	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1350605	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16168501
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1350605	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506701
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1350605	D	RGD:9068941	20200609	RGD			PMID:17413979|REF_RGD_ID:2292434
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:9007702	Carcinogenesis		ISO	RGD:1350605	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506701
1359491	Pou5f1	POU class 5 homeobox 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359492	Tmem171	transmembrane protein 171	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359492	Tmem171	transmembrane protein 171	gene	DOID:10534	stomach cancer		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359492	Tmem171	transmembrane protein 171	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359492	Tmem171	transmembrane protein 171	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359492	Tmem171	transmembrane protein 171	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359493	Cndp1	carnosine dipeptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359493	Cndp1	carnosine dipeptidase 1	gene	DOID:0060177	homocarnosinosis		ISO	RGD:1344598	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:4172777
1359493	Cndp1	carnosine dipeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359493	Cndp1	carnosine dipeptidase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1344598	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:4673339|PMID:4718759
1359493	Cndp1	carnosine dipeptidase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1344598	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868
1359493	Cndp1	carnosine dipeptidase 1	gene	DOID:1909	melanoma		ISO	RGD:1344598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359493	Cndp1	carnosine dipeptidase 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:1344598	D	RGD:7207223|PMID:20851293	20130124	RGD			
1359493	Cndp1	carnosine dipeptidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344598	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1359493	Cndp1	carnosine dipeptidase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1344598	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359493	Cndp1	carnosine dipeptidase 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1344598	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17942768|PMID:21393041|PMID:21573905
1359493	Cndp1	carnosine dipeptidase 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1344598	D	RGD:7207213|PMID:21393041	20130124	RGD			
1359493	Cndp1	carnosine dipeptidase 1	gene	DOID:9003814	Neurologic Manifestations		ISO	RGD:1344598	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:4673339
1359493	Cndp1	carnosine dipeptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359493	Cndp1	carnosine dipeptidase 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1344598	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:0050645	arterial tortuosity syndrome		ISO	RGD:1349728	D	RGD:42722010|PMID:22943132	20210302	RGD		DNA:missense mutation:CDS:p.D203A (human)	
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:0070133	autosomal recessive cutis laxa type IB		ISO	RGD:1349728	D	RGD:7240710	20140911	OMIM			
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:0070133	autosomal recessive cutis laxa type IB		ISO	RGD:1349728	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 1B | ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1B | ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IB	PMID:16199547|PMID:16685658|PMID:17576681|PMID:17937443|PMID:2038931|PMID:20389311|PMID:21563328|PMID:22440127|PMID:22943132|PMID:23212998|PMID:23532871|PMID:24033266|PMID:24276535|PMID:25741868|PMID:25907466|PMID:26017485|PMID:27339457|PMID:28454995|PMID:28492532|PMID:28673110|PMID:29350269|PMID:29620724|PMID:30060175|PMID:30140196|PMID:31127727|PMID:31130284|PMID:31384147|PMID:31589614|PMID:33895855|PMID:34901216|PMID:38025136|PMID:38113391|PMID:39764439|PMID:9536098
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:0070144	autosomal recessive cutis laxa type I		ISO	RGD:1349728	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 1	PMID:20389311|PMID:21563328|PMID:23532871|PMID:24033266|PMID:24276535|PMID:25741868|PMID:25907466|PMID:27339457|PMID:28492532|PMID:31589614
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:0080685	aortic dissection		ISO	RGD:1349728	D	RGD:42722606|PMID:23518852	20210303	RGD		mRNA, protein:decreased expression:aorta wall (human)	
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1349728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1349728	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:21563328|PMID:24033266|PMID:25741868|PMID:26017485|PMID:28492532
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:1909	melanoma		ISO	RGD:1349728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:2394	ovarian cancer	exacerbates	ISO	RGD:1349728	D	RGD:42722014|PMID:25885889	20210302	RGD		mRNA, protein:increased expression:ovary (human)	
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:2893	cervix carcinoma	exacerbates	ISO	RGD:1349728	D	RGD:42722607|PMID:24737201	20210303	RGD		mRNA, protein:increased expression:cervix epithelium (human)	
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:3144	cutis laxa		ISO	RGD:1349728	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:3144	cutis laxa		ISS	RGD:1551771	D	RGD:13592920	20180518	MouseDO		OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438	
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:3347	osteosarcoma	exacerbates	ISO	RGD:1349728	D	RGD:42722011|PMID:28339091	20210302	RGD		human EFEMP2 knockdown cell line in a mouse model	
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:3376	bone osteosarcoma	disease_progression	ISO	RGD:1349728	D	RGD:42722013|PMID:27157136	20210302	RGD		protein:increased expression:bone tissue (human)	
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:3376	bone osteosarcoma	exacerbates	ISO	RGD:1349728	D	RGD:42722011|PMID:28339091	20210302	RGD		mRNA, protein:increased expression:bone tissue (human )	
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:3627	aortic aneurysm		ISO	RGD:1349728	D	RGD:42722009|PMID:22440127	20210302	RGD		DNA:missense mutation:CDS:p.E161K (human)	
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:3627	aortic aneurysm		ISS	RGD:1551771	D	RGD:13592920	20180518	MouseDO			
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:520	aortic disease		ISO	RGD:1349728	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Familial aortopathy	PMID:22440127|PMID:25741868|PMID:28492532|PMID:31130284
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349728	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:8398	osteoarthritis		IEP		D	RGD:42722015|PMID:31396630	20210302	RGD		mRNA:increased expression:articular cartilage of joint (rat)	
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1349728	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17929269
1359496	Efemp2	EGF-like fibulin extracellular matrix protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359497	Qtgal	queuosine-tRNA galactosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603899	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359497	Qtgal	queuosine-tRNA galactosyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1603899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359497	Qtgal	queuosine-tRNA galactosyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359497	Qtgal	queuosine-tRNA galactosyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1603899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359497	Qtgal	queuosine-tRNA galactosyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359497	Qtgal	queuosine-tRNA galactosyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1603899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359497	Qtgal	queuosine-tRNA galactosyltransferase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359497	Qtgal	queuosine-tRNA galactosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1603899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359497	Qtgal	queuosine-tRNA galactosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1603899	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359497	Qtgal	queuosine-tRNA galactosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359497	Qtgal	queuosine-tRNA galactosyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359497	Qtgal	queuosine-tRNA galactosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359497	Qtgal	queuosine-tRNA galactosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359498	Tacstd2	tumor-associated calcium signal transducer 2	gene	DOID:0060449	gelatinous drop-like corneal dystrophy		ISO	RGD:1342963	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359498	Tacstd2	tumor-associated calcium signal transducer 2	gene	DOID:0060449	gelatinous drop-like corneal dystrophy		ISO	RGD:1342963	D	RGD:7240710	20130221	OMIM			
1359498	Tacstd2	tumor-associated calcium signal transducer 2	gene	DOID:0060449	gelatinous drop-like corneal dystrophy		ISO	RGD:1342963	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GELATINOUS DROP-LIKE CORNEAL DYSTROPHY | ClinVar Annotator: match by term: TACSTD2-related condition	PMID:28492532
1359498	Tacstd2	tumor-associated calcium signal transducer 2	gene	DOID:2566	corneal dystrophy		ISO	RGD:1342963	D	RGD:1599194|PMID:10192395	20070119	RGD		gelatinous drop-like corneal dystrophy	
1359498	Tacstd2	tumor-associated calcium signal transducer 2	gene	DOID:2566	corneal dystrophy		ISO	RGD:1342963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy	PMID:17167402|PMID:25741868
1359498	Tacstd2	tumor-associated calcium signal transducer 2	gene	DOID:289	endometriosis		ISO	RGD:1342963	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1359498	Tacstd2	tumor-associated calcium signal transducer 2	gene	DOID:9000343	Vision Disorders		ISO	RGD:1342963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:17167402|PMID:25741868
1359498	Tacstd2	tumor-associated calcium signal transducer 2	gene	DOID:9003137	Photophobia		ISO	RGD:1342963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:17167402|PMID:25741868
1359501	Rnase9	ribonuclease A family member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359502	Ccdc91	coiled-coil domain containing 91	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359502	Ccdc91	coiled-coil domain containing 91	gene	DOID:1115	sarcoma		ISO	RGD:1605359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359502	Ccdc91	coiled-coil domain containing 91	gene	DOID:1909	melanoma		ISO	RGD:1605359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359502	Ccdc91	coiled-coil domain containing 91	gene	DOID:303	substance-related disorder		ISO	RGD:1605359	D	RGD:11554173	20161206	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1359502	Ccdc91	coiled-coil domain containing 91	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359502	Ccdc91	coiled-coil domain containing 91	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359502	Ccdc91	coiled-coil domain containing 91	gene	DOID:5041	esophageal cancer		ISO	RGD:1605359	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359502	Ccdc91	coiled-coil domain containing 91	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359504	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359504	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359504	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359504	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359504	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359504	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:3070	high grade glioma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359504	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359504	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359504	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359504	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359504	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359504	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359504	Mical3	microtubule associated monooxygenase, calponin and LIM domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359505	Clec6a-ps1	C-type lectin domain family 6, member A, pseudogene 1	gene	DOID:1115	sarcoma		ISO	RGD:1351045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359505	Clec6a-ps1	C-type lectin domain family 6, member A, pseudogene 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351045	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359505	Clec6a-ps1	C-type lectin domain family 6, member A, pseudogene 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359508	C2h4orf33	similar to human chromosome 4 open reading frame 33	gene	DOID:10534	stomach cancer		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359508	C2h4orf33	similar to human chromosome 4 open reading frame 33	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359508	C2h4orf33	similar to human chromosome 4 open reading frame 33	gene	DOID:1324	lung cancer		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359508	C2h4orf33	similar to human chromosome 4 open reading frame 33	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359508	C2h4orf33	similar to human chromosome 4 open reading frame 33	gene	DOID:4362	cervical cancer		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359508	C2h4orf33	similar to human chromosome 4 open reading frame 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359508	C2h4orf33	similar to human chromosome 4 open reading frame 33	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359508	C2h4orf33	similar to human chromosome 4 open reading frame 33	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359509	Coq10b	coenzyme Q10B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359509	Coq10b	coenzyme Q10B	gene	DOID:1115	sarcoma		ISO	RGD:1604595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359509	Coq10b	coenzyme Q10B	gene	DOID:4362	cervical cancer		ISO	RGD:1604595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359509	Coq10b	coenzyme Q10B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359509	Coq10b	coenzyme Q10B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359509	Coq10b	coenzyme Q10B	gene	DOID:9256	colorectal cancer		ISO	RGD:1604595	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1349068	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1	PMID:25741868
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:0070275	hereditary nonpolyposis colorectal cancer type 4		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 4	PMID:25741868
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:0080745	polymyositis		ISO	RGD:1349068	D	RGD:2324870|PMID:15856462	20100513	RGD			
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:10223	dermatomyositis		ISO	RGD:1349068	D	RGD:2324870|PMID:15856462	20100513	RGD			
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:10534	stomach cancer		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:1115	sarcoma		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:1240	leukemia		ISO	RGD:1349068	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukemia	PMID:27993330
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:1612	breast cancer		ISO	RGD:1349068	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: PMS1-related breast cancer | ClinVar Annotator: match by term: breast cancer	PMID:25741868
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:1909	melanoma		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:2394	ovarian cancer		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:3275	thymoma		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1349068	D	RGD:2324870|PMID:15856462	20100513	RGD		protein:increased expression:pancreatic duct	
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1349068	D	RGD:1599137|PMID:8072530	20070117	RGD			
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:3883	Lynch syndrome		ISO	RGD:1349068	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25741868
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:4362	cervical cancer		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:5041	esophageal cancer		ISO	RGD:1349068	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:28492532
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1349068	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:9004271	Colonic Polyps		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon polyps	PMID:25637381
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1349068	D	RGD:2306714|PMID:11900875	20090504	RGD			
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359511	Pms1	PMS1 homolog 1, mismatch repair system component	gene	DOID:9256	colorectal cancer		ISO	RGD:1349068	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:0070409	autosomal recessive spinocerebellar ataxia 28		ISO	RGD:1603030	D	RGD:7240710	20200401	OMIM			
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:0070409	autosomal recessive spinocerebellar ataxia 28		ISO	RGD:1603030	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28 | ClinVar Annotator: match by term: THG1L-related disorder	PMID:25741868|PMID:27307223|PMID:31168944|PMID:38681507
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:1827	generalized epilepsy		ISO	RGD:1603030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:1909	melanoma		ISO	RGD:1603030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:4362	cervical cancer		ISO	RGD:1603030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1603030	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:557	kidney disease		ISO	RGD:1603030	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21784897
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:630	genetic disease		ISO	RGD:1603030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:9000784	Fibrosis		ISO	RGD:1603030	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21784897
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603030	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359513	Thg1l	tRNA-histidine guanylyltransferase 1-like	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1359515	Pi4k2b	phosphatidylinositol 4-kinase type 2 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359515	Pi4k2b	phosphatidylinositol 4-kinase type 2 beta	gene	DOID:12849	autistic disorder		ISO	RGD:1602326	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1359515	Pi4k2b	phosphatidylinositol 4-kinase type 2 beta	gene	DOID:1909	melanoma		ISO	RGD:1602326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359515	Pi4k2b	phosphatidylinositol 4-kinase type 2 beta	gene	DOID:2394	ovarian cancer		ISO	RGD:1602326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359515	Pi4k2b	phosphatidylinositol 4-kinase type 2 beta	gene	DOID:4362	cervical cancer		ISO	RGD:1602326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359515	Pi4k2b	phosphatidylinositol 4-kinase type 2 beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359515	Pi4k2b	phosphatidylinositol 4-kinase type 2 beta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359515	Pi4k2b	phosphatidylinositol 4-kinase type 2 beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359515	Pi4k2b	phosphatidylinositol 4-kinase type 2 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359515	Pi4k2b	phosphatidylinositol 4-kinase type 2 beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359516	Babam1	BRISC and BRCA1 A complex member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359516	Babam1	BRISC and BRCA1 A complex member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359516	Babam1	BRISC and BRCA1 A complex member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359516	Babam1	BRISC and BRCA1 A complex member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359516	Babam1	BRISC and BRCA1 A complex member 1	gene	DOID:1115	sarcoma		ISO	RGD:1602893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359516	Babam1	BRISC and BRCA1 A complex member 1	gene	DOID:1324	lung cancer		ISO	RGD:1602893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359516	Babam1	BRISC and BRCA1 A complex member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359516	Babam1	BRISC and BRCA1 A complex member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359516	Babam1	BRISC and BRCA1 A complex member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359516	Babam1	BRISC and BRCA1 A complex member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359516	Babam1	BRISC and BRCA1 A complex member 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1602893	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20852633
1359516	Babam1	BRISC and BRCA1 A complex member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359516	Babam1	BRISC and BRCA1 A complex member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359516	Babam1	BRISC and BRCA1 A complex member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359517	Mapda	N6-Methyl-AMP deaminase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359517	Mapda	N6-Methyl-AMP deaminase	gene	DOID:1115	sarcoma		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359517	Mapda	N6-Methyl-AMP deaminase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359517	Mapda	N6-Methyl-AMP deaminase	gene	DOID:4362	cervical cancer		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359517	Mapda	N6-Methyl-AMP deaminase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359517	Mapda	N6-Methyl-AMP deaminase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359517	Mapda	N6-Methyl-AMP deaminase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359517	Mapda	N6-Methyl-AMP deaminase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359517	Mapda	N6-Methyl-AMP deaminase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:0110723	neuronal ceroid lipofuscinosis 8		ISO	RGD:1346223	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:0110723	neuronal ceroid lipofuscinosis 8		ISO	RGD:1346223	D	RGD:7240710	20130221	OMIM			
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:0110723	neuronal ceroid lipofuscinosis 8		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 8 | ClinVar Annotator: match by term: CLN8-related disorder | ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 8 | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 8 | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8	PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15160397|PMID:16570191|PMID:16828266|PMID:19201763|PMID:19431184|PMID:19807737|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29915382|PMID:30293248|PMID:30397314|PMID:30741402|PMID:30919163|PMID:31069529|PMID:31130284|PMID:31440721|PMID:31741823|PMID:32348865|PMID:33358637|PMID:34532411|PMID:36011304|PMID:36912596|PMID:37074398|PMID:38229148|PMID:38277958|PMID:38751748|PMID:38857616|PMID:39675099
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:0110723	neuronal ceroid lipofuscinosis 8		ISS	RGD:1552276	D	RGD:13592920	20230718	MouseDO		OMIM:600143	
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:0110724	neuronal ceroid lipofuscinosis 8 northern epilepsy variant		ISO	RGD:1346223	D	RGD:7240710	20181017	OMIM			
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:0110724	neuronal ceroid lipofuscinosis 8 northern epilepsy variant		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT | ClinVar Annotator: match by term: NORTHERN EPILEPSY | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | ClinVar Annotator: match by term: Northern epilepsy	PMID:10508524|PMID:10861296|PMID:15160397|PMID:16828266|PMID:20301601|PMID:21990111|PMID:22220808|PMID:25741868|PMID:26075876|PMID:26467025|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532|PMID:32348865|PMID:36912596|PMID:38751748
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:1059	intellectual disability		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:28492532
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	PMID:21990111|PMID:25741868|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:1115	sarcoma		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1346223	D	RGD:11554173	20211012	CTD		CTD Direct Evidence: marker/mechanism	PMID:22302580
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1346223	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:18414213|PMID:19431184|PMID:19807737|PMID:2199011|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:30741402|PMID:30919163
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1346223	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:18414213|PMID:19431184|PMID:19807737|PMID:2199011|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:30741402|PMID:30919163|PMID:31741823
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: neuronal ceroid lipofuscinosis	PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15160397|PMID:16828266|PMID:17576681|PMID:19201763|PMID:19807737|PMID:21990111|PMID:22220808|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25806950|PMID:25976102|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27629047|PMID:27844444|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29422019|PMID:30741402|PMID:30919163|PMID:31069529|PMID:32348865|PMID:33358637|PMID:33694307|PMID:34201538|PMID:36912596|PMID:38751748|PMID:9422019|PMID:9536098
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:1826	epilepsy		ISO	RGD:1346223	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:21990111|PMID:25741868|PMID:26467025|PMID:26657971|PMID:28454995|PMID:28492532|PMID:29503925
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:1826	epilepsy		ISO	RGD:1346223	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:21990111|PMID:25741868|PMID:26467025|PMID:26657971|PMID:28454995|PMID:28492532|PMID:29503925|PMID:29961513|PMID:31741823
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:1826	epilepsy		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:10861296|PMID:21990111|PMID:22220808|PMID:25741868|PMID:26075876|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:28492532
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:2468	psychotic disorder		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:2841	asthma		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:540	strabismus		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:21990111|PMID:25741868|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:630	genetic disease		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10508524|PMID:10861296|PMID:21990111|PMID:22220808|PMID:25741868|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532|PMID:32348865|PMID:36912596|PMID:38751748
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:7998	hyperthyroidism		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:9003507	Premature Birth		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:10861296|PMID:22220808|PMID:25741868|PMID:26075876|PMID:28492532
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:21990111|PMID:25741868|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1346223	D	RGD:11554173	20211012	CTD		CTD Direct Evidence: marker/mechanism	PMID:22302580
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
1359518	Cln8	CLN8, transmembrane ER and ERGIC protein	gene	DOID:9008023	Memory Disorders		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1359520	Ddx59	DEAD-box helicase 59	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359520	Ddx59	DEAD-box helicase 59	gene	DOID:0060375	orofaciodigital syndrome V		ISO	RGD:1606490	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359520	Ddx59	DEAD-box helicase 59	gene	DOID:0060375	orofaciodigital syndrome V		ISO	RGD:1606490	D	RGD:7240710	20141015	OMIM			
1359520	Ddx59	DEAD-box helicase 59	gene	DOID:0060375	orofaciodigital syndrome V		ISO	RGD:1606490	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DDX59-related condition | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME V | ClinVar Annotator: match by term: Orofaciodigital syndrome V	PMID:25741868|PMID:28492532|PMID:29127725|PMID:34008892|PMID:39825153
1359520	Ddx59	DEAD-box helicase 59	gene	DOID:10534	stomach cancer		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359520	Ddx59	DEAD-box helicase 59	gene	DOID:3275	thymoma		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359520	Ddx59	DEAD-box helicase 59	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359520	Ddx59	DEAD-box helicase 59	gene	DOID:630	genetic disease		ISO	RGD:1606490	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359520	Ddx59	DEAD-box helicase 59	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359520	Ddx59	DEAD-box helicase 59	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359520	Ddx59	DEAD-box helicase 59	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359521	Prune1	prune exopolyphosphatase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1359521	Prune1	prune exopolyphosphatase 1	gene	DOID:1909	melanoma		ISO	RGD:1350944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359521	Prune1	prune exopolyphosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359521	Prune1	prune exopolyphosphatase 1	gene	DOID:630	genetic disease		ISO	RGD:1350944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1359521	Prune1	prune exopolyphosphatase 1	gene	DOID:9005194	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES		ISO	RGD:1350944	D	RGD:7240710	20190315	OMIM			
1359521	Prune1	prune exopolyphosphatase 1	gene	DOID:9005194	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES		ISO	RGD:1350944	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | ClinVar Annotator: match by term: PRUNE1-related condition	PMID:25741868|PMID:26539891|PMID:28334956|PMID:28492532|PMID:33105479
1359521	Prune1	prune exopolyphosphatase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1359521	Prune1	prune exopolyphosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359521	Prune1	prune exopolyphosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359522	Nudt9	nudix hydrolase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359522	Nudt9	nudix hydrolase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1352650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359522	Nudt9	nudix hydrolase 9	gene	DOID:1115	sarcoma		ISO	RGD:1352650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359522	Nudt9	nudix hydrolase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359522	Nudt9	nudix hydrolase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359523	Ube2j2	ubiquitin-conjugating enzyme E2, J2	gene	DOID:10534	stomach cancer		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359523	Ube2j2	ubiquitin-conjugating enzyme E2, J2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359523	Ube2j2	ubiquitin-conjugating enzyme E2, J2	gene	DOID:1115	sarcoma		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359523	Ube2j2	ubiquitin-conjugating enzyme E2, J2	gene	DOID:1909	melanoma		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359523	Ube2j2	ubiquitin-conjugating enzyme E2, J2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359523	Ube2j2	ubiquitin-conjugating enzyme E2, J2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359523	Ube2j2	ubiquitin-conjugating enzyme E2, J2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359523	Ube2j2	ubiquitin-conjugating enzyme E2, J2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359525	Thyn1	thymocyte nuclear protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359525	Thyn1	thymocyte nuclear protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359525	Thyn1	thymocyte nuclear protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359525	Thyn1	thymocyte nuclear protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359525	Thyn1	thymocyte nuclear protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359525	Thyn1	thymocyte nuclear protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606014	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
1359525	Thyn1	thymocyte nuclear protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:0111866	trichothiodystrophy		ISO	RGD:1347839	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: trichothiodystrophy	PMID:25741868
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:0111870	nonphotosensitive trichothiodystrophy 7		ISO	RGD:1347839	D	RGD:7240710	20190911	OMIM			
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:0111870	nonphotosensitive trichothiodystrophy 7		ISO	RGD:1347839	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TARS1-related condition | ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE | ClinVar Annotator: match by term: Trichothiodystrophy 7, nonphotosensitive	PMID:25741868|PMID:28492532
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:1115	sarcoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:1324	lung cancer		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:633	myositis		ISO	RGD:1347839	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23425968
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359527	Tars1	threonyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359528	Clec4a3	C-type lectin domain family 4, member A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359528	Clec4a3	C-type lectin domain family 4, member A3	gene	DOID:1205	allergic disease		ISO	RGD:1352867	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23624239
1359528	Clec4a3	C-type lectin domain family 4, member A3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359528	Clec4a3	C-type lectin domain family 4, member A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359528	Clec4a3	C-type lectin domain family 4, member A3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352867	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359528	Clec4a3	C-type lectin domain family 4, member A3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1550790	D	RGD:11554173	20220913	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359529	Rsrp1	arginine and serine rich protein 1	gene	DOID:0080959	arrhythmogenic right ventricular dysplasia 14		ISO	RGD:1603978	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 14	PMID:25741868
1359529	Rsrp1	arginine and serine rich protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359529	Rsrp1	arginine and serine rich protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359529	Rsrp1	arginine and serine rich protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603978	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359529	Rsrp1	arginine and serine rich protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603978	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:0060260	ptosis		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:0060321	umbilical hernia		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:0060820	syndromic X-linked intellectual disability Nascimento type		ISO	RGD:1346006	D	RGD:7240710	20140911	OMIM			
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:0060820	syndromic X-linked intellectual disability Nascimento type		ISO	RGD:1346006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, NASCIMENTO TYPE | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Nascimento type | ClinVar Annotator: match by term: UBE2A-related condition	PMID:25741868|PMID:28492532|PMID:28611923|PMID:32415735
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:1059	intellectual disability		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:11111	hydronephrosis		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:1115	sarcoma		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:11383	cryptorchidism		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:11830	myopia		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:12849	autistic disorder		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:20412111|PMID:25741868
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:12849	autistic disorder		ISO	RGD:1346006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:1826	epilepsy		ISO	RGD:1346006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:1909	melanoma		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1346006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:2841	asthma		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:4362	cervical cancer		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:630	genetic disease		ISO	RGD:1346006	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9001581	Constipation		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9002079	Paresis		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1346006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9004507	Hirsutism		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:20412111|PMID:25741868
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9007661	Dwarfism		ISO	RGD:1346006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9007701	Central Nervous System Neoplasms		ISO	RGD:1346006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm of the central nervous system	PMID:25741868
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9410	combined pituitary hormone deficiency		ISO	RGD:1346006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Panhypopituitarism	
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9834	hyperopia		ISO	RGD:1346006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1359534	Ube2a	ubiquitin-conjugating enzyme E2A	gene	DOID:9970	obesity		ISO	RGD:1346006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:0060260	ptosis		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:0060320	inguinal hernia		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4		ISO	RGD:1347377	D	RGD:7240710	20190911	OMIM			
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4		ISO	RGD:1347377	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:27513193|PMID:28492532|PMID:31148362|PMID:32588908|PMID:32746448|PMID:38456468
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:11111	hydronephrosis		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:1143	exotropia		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:13620	patent foramen ovale		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:1826	epilepsy		ISO	RGD:1347377	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder	PMID:16199547|PMID:17576681|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908|PMID:9536098
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:1826	epilepsy		ISO	RGD:1347377	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures	PMID:16199547|PMID:17576681|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908|PMID:32746448|PMID:9536098
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:1826	epilepsy		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure	PMID:16199547|PMID:17576681|PMID:24463883|PMID:25558065|PMID:25741868|PMID:27513193|PMID:28492532|PMID:31148362|PMID:32588908|PMID:32746448|PMID:37105505|PMID:38456468|PMID:9536098
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:535	sleep disorder		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:630	genetic disease		ISO	RGD:1347377	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:27513193|PMID:28492532|PMID:31148362|PMID:32588908|PMID:32746448|PMID:38456468
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:8445	intestinal volvulus		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Volvulus	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:9008675	Dyskinesias		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359535	Pigq	phosphatidylinositol glycan anchor biosynthesis, class Q	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
1359536	Pef1	penta-EF hand domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular heterotopia	PMID:28492532
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0061299	retinitis pigmentosa 101		ISO	RGD:1345435	D	RGD:7240710	20260506	OMIM			
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0061299	retinitis pigmentosa 101		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 101	PMID:17576681|PMID:24154662|PMID:25741868|PMID:26766544|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:31741823|PMID:32581362|PMID:32685355|PMID:33507216|PMID:34906470|PMID:36909829|PMID:36912596|PMID:9536098
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0110731	neuronal ceroid lipofuscinosis 3		ISO	RGD:1345435	D	RGD:7240710	20160907	OMIM			
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0110731	neuronal ceroid lipofuscinosis 3		ISO	RGD:1345435	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Batten Disease | ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 3 | ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED | ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: CLN3-related disorder | ClinVar Annotator: match by term: Juvenile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3	PMID:10749980|PMID:10924275|PMID:11339651|PMID:11589014|PMID:12189165|PMID:14699076|PMID:16087292|PMID:16199547|PMID:16251196|PMID:17475770|PMID:17576681|PMID:17868323|PMID:17947292|PMID:18414213|PMID:19132115|PMID:19489875|PMID:20187884|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:22748208|PMID:23142271|PMID:23374165|PMID:23539563|PMID:23847139|PMID:24154662|PMID:24271013|PMID:24625443|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26308342|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26766544|PMID:27104957|PMID:27290639|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676|PMID:28559085|PMID:28792770|PMID:29053603|PMID:29140481|PMID:29343940|PMID:29392585|PMID:29753273|PMID:30446867|PMID:30769084|PMID:31273342|PMID:31568712|PMID:31690835|PMID:31741823|PMID:31926949|PMID:32154056|PMID:32412666|PMID:32441891|PMID:32581362|PMID:3268535|PMID:32685355|PMID:33073192|PMID:33497524|PMID:33507216|PMID:33921607|PMID:34662339|PMID:35231114|PMID:35716526|PMID:35929194|PMID:36011402|PMID:36034292|PMID:36071899|PMID:36139381|PMID:36576693|PMID:36819107|PMID:36909829|PMID:36912596|PMID:37338096|PMID:38540785|PMID:39400524|PMID:7553855|PMID:9311735|PMID:9536098|PMID:9618513|PMID:9932957
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0110731	neuronal ceroid lipofuscinosis 3		ISS	RGD:1552285	D	RGD:13592920	20230718	MouseDO		OMIM:204200	
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345435	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10332042|PMID:17576681|PMID:17947292|PMID:19132115|PMID:21990111|PMID:22013180|PMID:24154662|PMID:25741868|PMID:26766544|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:31568712|PMID:32581362|PMID:32685355|PMID:33507216|PMID:34906470|PMID:7553855|PMID:9311735|PMID:9536098
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345435	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28542676|PMID:9536098
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:1059	intellectual disability		ISO	RGD:1345435	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:33507216
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:1115	sarcoma		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:12849	autistic disorder		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:1324	lung cancer		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1345435	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1345435	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: neuronal ceroid lipofuscinosis	PMID:10332042|PMID:12374761|PMID:15818814|PMID:16199547|PMID:17576681|PMID:17947292|PMID:19132115|PMID:20187884|PMID:21228398|PMID:21990111|PMID:22013180|PMID:23142271|PMID:23374165|PMID:23539563|PMID:23919525|PMID:24154662|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26766544|PMID:27486012|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29140481|PMID:31273342|PMID:31568712|PMID:32154056|PMID:32412666|PMID:32441891|PMID:32631363|PMID:33507216|PMID:34849271|PMID:36011402|PMID:36819107|PMID:38219857|PMID:38347443|PMID:7553855|PMID:9004140|PMID:9311735|PMID:9392580|PMID:9450775|PMID:9536098
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:1826	epilepsy		ISO	RGD:1345435	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32037395
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:1909	melanoma		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:3275	thymoma		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:28492532
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:5041	esophageal cancer		ISO	RGD:1345435	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:630	genetic disease		ISO	RGD:1345435	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23142271|PMID:25741868|PMID:26467025|PMID:26544041|PMID:27843123|PMID:28492532|PMID:29140481|PMID:31273342|PMID:32412666|PMID:9311735
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:8501	fundus dystrophy		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10332042|PMID:12796825|PMID:17947292|PMID:19132115|PMID:19135632|PMID:20187884|PMID:21228398|PMID:21359416|PMID:21499717|PMID:23539563|PMID:23860047|PMID:23919525|PMID:24979587|PMID:25741868|PMID:26308342|PMID:27486012|PMID:28492532|PMID:28542676|PMID:30480032|PMID:30548430|PMID:31568712|PMID:32154056|PMID:33507216|PMID:33851411|PMID:37039534|PMID:7553855|PMID:9311735|PMID:9392580
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1345435	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	PMID:25741868|PMID:26467025|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1345435	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9000343	Vision Disorders		ISO	RGD:1345435	D	RGD:11554173	20240206	CTD		CTD Direct Evidence: marker/mechanism	PMID:24804307
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9000918	Disease Progression		ISO	RGD:1345435	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:28492532
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359537	Cln3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359538	Tmem109	transmembrane protein 109	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359538	Tmem109	transmembrane protein 109	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359538	Tmem109	transmembrane protein 109	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359539	Ighg1	immunoglobulin heavy constant gamma 1	gene	DOID:0080600	COVID-19		ISO	RGD:1344505	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1359539	Ighg1	immunoglobulin heavy constant gamma 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1344505	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1359539	Ighg1	immunoglobulin heavy constant gamma 1	gene	DOID:633	myositis		ISO	RGD:1344505	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18821675
1359540	Sar1a	secretion associated, Ras related GTPase 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1350460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359540	Sar1a	secretion associated, Ras related GTPase 1A	gene	DOID:1909	melanoma		ISO	RGD:1350460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359540	Sar1a	secretion associated, Ras related GTPase 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1350460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359540	Sar1a	secretion associated, Ras related GTPase 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1350460	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359540	Sar1a	secretion associated, Ras related GTPase 1A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359540	Sar1a	secretion associated, Ras related GTPase 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359540	Sar1a	secretion associated, Ras related GTPase 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359540	Sar1a	secretion associated, Ras related GTPase 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359540	Sar1a	secretion associated, Ras related GTPase 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359542	Ubac1	UBA domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359542	Ubac1	UBA domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1346576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359542	Ubac1	UBA domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1346576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359542	Ubac1	UBA domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1346576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359542	Ubac1	UBA domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359542	Ubac1	UBA domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359542	Ubac1	UBA domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359542	Ubac1	UBA domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359542	Ubac1	UBA domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359544	Ttc36	tetratricopeptide repeat domain 36	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2293598	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1359544	Ttc36	tetratricopeptide repeat domain 36	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2293598	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359545	Prss23	serine protease 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359545	Prss23	serine protease 23	gene	DOID:0080600	COVID-19		ISO	RGD:1346659	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1359545	Prss23	serine protease 23	gene	DOID:0111412	exudative vitreoretinopathy 1		ISO	RGD:11598786|RGD:11608421|RGD:11616987|RGD:11624988|RGD:13523869|RGD:28912059	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant	PMID:28492532
1359545	Prss23	serine protease 23	gene	DOID:1909	melanoma		ISO	RGD:1346659	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1359545	Prss23	serine protease 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359546	Aldh3b1	aldehyde dehydrogenase 3 family, member B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359546	Aldh3b1	aldehyde dehydrogenase 3 family, member B1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1349903	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1359546	Aldh3b1	aldehyde dehydrogenase 3 family, member B1	gene	DOID:1115	sarcoma		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359546	Aldh3b1	aldehyde dehydrogenase 3 family, member B1	gene	DOID:1324	lung cancer		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359546	Aldh3b1	aldehyde dehydrogenase 3 family, member B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359546	Aldh3b1	aldehyde dehydrogenase 3 family, member B1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359546	Aldh3b1	aldehyde dehydrogenase 3 family, member B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359546	Aldh3b1	aldehyde dehydrogenase 3 family, member B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359546	Aldh3b1	aldehyde dehydrogenase 3 family, member B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:0080389	nephrotic syndrome type 8		ISO	RGD:1354371	D	RGD:7240710	20140911	OMIM			
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:0080389	nephrotic syndrome type 8		ISO	RGD:1354371	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARHGDIA-related condition | ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 8 | ClinVar Annotator: match by term: Nephrotic syndrome, type 8	PMID:25741868|PMID:28492532
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:1354371	D	RGD:8554872	20180515	ClinVar		ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome	PMID:25741868
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:10763	hypertension		IEP		D	RGD:9684972|PMID:19689474	20141211	RGD		mRNA:decreased expression:urinary bladder	
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:10763	hypertension		IEP		D	RGD:9684979|PMID:25164814	20141212	RGD		protein:decreased expression:cortical collecting duct	
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:1115	sarcoma		ISO	RGD:1354371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:1184	nephrotic syndrome		ISS	RGD:1552296	D	RGD:13592920	20180518	MouseDO		OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861	
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1354371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1354371	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:630	genetic disease		ISO	RGD:1354371	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:9000058	Keloid		ISO	RGD:1354371	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1354371	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1354371	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
1359547	Arhgdia	Rho GDP dissociation inhibitor alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1348771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1348771	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1348771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348771	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348771	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359548	Lrrfip1	LRR binding FLII interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359549	Ociad1	OCIA domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359549	Ociad1	OCIA domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359549	Ociad1	OCIA domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359549	Ociad1	OCIA domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1351024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359549	Ociad1	OCIA domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359549	Ociad1	OCIA domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359549	Ociad1	OCIA domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359549	Ociad1	OCIA domain containing 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1351024	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1359549	Ociad1	OCIA domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:0060058	lymphoma		ISO	RGD:1348100	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:10534	stomach cancer		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:1115	sarcoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:1324	lung cancer		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:1612	breast cancer		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1359550	Sp100	SP100 nuclear body protein	gene	DOID:1909	melanoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1348100	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359550	Sp100	SP100 nuclear body protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359551	Fblim1	filamin binding LIM protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359551	Fblim1	filamin binding LIM protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1606792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359551	Fblim1	filamin binding LIM protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1606792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359551	Fblim1	filamin binding LIM protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359551	Fblim1	filamin binding LIM protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359551	Fblim1	filamin binding LIM protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606792	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359551	Fblim1	filamin binding LIM protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359551	Fblim1	filamin binding LIM protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359551	Fblim1	filamin binding LIM protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359553	Hsd17b13	hydroxysteroid (17-beta) dehydrogenase 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359553	Hsd17b13	hydroxysteroid (17-beta) dehydrogenase 13	gene	DOID:1115	sarcoma		ISO	RGD:1342842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359553	Hsd17b13	hydroxysteroid (17-beta) dehydrogenase 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359553	Hsd17b13	hydroxysteroid (17-beta) dehydrogenase 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1342842	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359553	Hsd17b13	hydroxysteroid (17-beta) dehydrogenase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359553	Hsd17b13	hydroxysteroid (17-beta) dehydrogenase 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359553	Hsd17b13	hydroxysteroid (17-beta) dehydrogenase 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359553	Hsd17b13	hydroxysteroid (17-beta) dehydrogenase 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1342842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359553	Hsd17b13	hydroxysteroid (17-beta) dehydrogenase 13	gene	DOID:9452	steatotic liver disease		ISO	RGD:1342842	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HSD17B13 POLYMORPHISM	
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:10907	microcephaly		ISO	RGD:1343771	D	RGD:1624242|PMID:12185364	20070507	RGD		Microcephaly, Amish type, OMIM:607196;DNA:point mutation:exon:G177A	
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:1826	epilepsy		ISO	RGD:1343771	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:3650	lactic acidosis		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:4362	cervical cancer		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:630	genetic disease		ISO	RGD:1343771	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:26467025|PMID:28492532
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:9000348	Confusion		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Confusion	PMID:25741868
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:9000590	Dyspnea		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25741868
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:9002554	Tachycardia		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:25741868
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:9004450	Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)		ISO	RGD:1343771	D	RGD:7240710	20150304	OMIM			
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:9004450	Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)		ISO	RGD:1343771	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)	PMID:25741868|PMID:28492532
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:9006375	Amish Lethal Microcephaly		ISO	RGD:1343771	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:9006375	Amish Lethal Microcephaly		ISO	RGD:1343771	D	RGD:7240710	20150304	OMIM			
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:9006375	Amish Lethal Microcephaly		ISO	RGD:1343771	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: MICROCEPHALY, AMISH TYPE | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: SLC25A19-related condition	PMID:25741868|PMID:26467025|PMID:28492532
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359554	Slc25a19	solute carrier family 25 member 19	gene	DOID:9351	diabetes mellitus		ISO	RGD:1343771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868
1359555	Sec13	SEC13, nuclear pore and COPII component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359555	Sec13	SEC13, nuclear pore and COPII component	gene	DOID:10534	stomach cancer		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359555	Sec13	SEC13, nuclear pore and COPII component	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359555	Sec13	SEC13, nuclear pore and COPII component	gene	DOID:4362	cervical cancer		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359555	Sec13	SEC13, nuclear pore and COPII component	gene	DOID:5041	esophageal cancer		ISO	RGD:1344614	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359555	Sec13	SEC13, nuclear pore and COPII component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359555	Sec13	SEC13, nuclear pore and COPII component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359555	Sec13	SEC13, nuclear pore and COPII component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359555	Sec13	SEC13, nuclear pore and COPII component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:1115	sarcoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:1909	melanoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:3275	thymoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:5041	esophageal cancer		ISO	RGD:1343086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:630	genetic disease		ISO	RGD:1343086	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:9003687	Multisystem Autoimmune Disease with Facial Dysmorphism		ISO	RGD:1343086	D	RGD:7240710	20130221	OMIM			
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:9003687	Multisystem Autoimmune Disease with Facial Dysmorphism		ISO	RGD:1343086	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM | ClinVar Annotator: match by term: ITCH-related condition	PMID:20170897|PMID:25741868|PMID:28492532
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1359556	Itch	itchy E3 ubiquitin protein ligase	gene	DOID:9256	colorectal cancer		ISO	RGD:1343086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1359557	Esrrb	estrogen-related receptor beta	gene	DOID:0110493	autosomal recessive nonsyndromic deafness 35		ISO	RGD:1342767	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359557	Esrrb	estrogen-related receptor beta	gene	DOID:0110493	autosomal recessive nonsyndromic deafness 35		ISO	RGD:1342767	D	RGD:7240710	20130221	OMIM			
1359557	Esrrb	estrogen-related receptor beta	gene	DOID:0110493	autosomal recessive nonsyndromic deafness 35		ISO	RGD:1342767	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 35 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 35 | ClinVar Annotator: match by term: ESRRB-related condition	PMID:16199547|PMID:18179891|PMID:23767834|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:31389194
1359557	Esrrb	estrogen-related receptor beta	gene	DOID:10534	stomach cancer		ISO	RGD:1342767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359557	Esrrb	estrogen-related receptor beta	gene	DOID:12930	dilated cardiomyopathy		ISS	RGD:1621573	D	RGD:13592920	20180518	MouseDO			
1359557	Esrrb	estrogen-related receptor beta	gene	DOID:1324	lung cancer		ISO	RGD:1342767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359557	Esrrb	estrogen-related receptor beta	gene	DOID:3070	high grade glioma		ISO	RGD:1342767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359557	Esrrb	estrogen-related receptor beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359557	Esrrb	estrogen-related receptor beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359557	Esrrb	estrogen-related receptor beta	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1342767	D	RGD:8554872	20190507	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1359557	Esrrb	estrogen-related receptor beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359557	Esrrb	estrogen-related receptor beta	gene	DOID:9004538	Hearing Loss		ISO	RGD:1342767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:30311386
1359557	Esrrb	estrogen-related receptor beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359562	Gpbp1l1	GC-rich promoter binding protein 1-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359562	Gpbp1l1	GC-rich promoter binding protein 1-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359562	Gpbp1l1	GC-rich promoter binding protein 1-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359562	Gpbp1l1	GC-rich promoter binding protein 1-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359562	Gpbp1l1	GC-rich promoter binding protein 1-like 1	gene	DOID:1909	melanoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359562	Gpbp1l1	GC-rich promoter binding protein 1-like 1	gene	DOID:3275	thymoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359562	Gpbp1l1	GC-rich promoter binding protein 1-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359562	Gpbp1l1	GC-rich promoter binding protein 1-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605641	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359562	Gpbp1l1	GC-rich promoter binding protein 1-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359562	Gpbp1l1	GC-rich promoter binding protein 1-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605641	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359562	Gpbp1l1	GC-rich promoter binding protein 1-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359562	Gpbp1l1	GC-rich promoter binding protein 1-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:0060264	pontocerebellar hypoplasia		ISO	RGD:1348893	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia	PMID:18414213|PMID:25741868|PMID:28492532
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:0060266	pontocerebellar hypoplasia type 1B		ISO	RGD:1348893	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia	PMID:18414213|PMID:25741868|PMID:28492532
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:0060269	pontocerebellar hypoplasia type 2C		ISO	RGD:1348893	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:0060269	pontocerebellar hypoplasia type 2C		ISO	RGD:1348893	D	RGD:7240710	20141216	OMIM			
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:0060269	pontocerebellar hypoplasia type 2C		ISO	RGD:1348893	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2C | ClinVar Annotator: match by term: TSEN34-related condition	PMID:18414213|PMID:20301773|PMID:25741868|PMID:28492532
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:10534	stomach cancer		ISO	RGD:1348893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:1059	intellectual disability		ISO	RGD:1348893	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711368
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:10907	microcephaly		ISO	RGD:1348893	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711368
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:1115	sarcoma		ISO	RGD:1348893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:3275	thymoma		ISO	RGD:1348893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:480	movement disease		ISO	RGD:1348893	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711368
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1348893	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711368
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:9000343	Vision Disorders		ISO	RGD:1348893	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711368
1359564	Tsen34	tRNA splicing endonuclease subunit 34	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359565	Mettl6	methyltransferase 6, tRNA N3-cytidine	gene	DOID:0060058	lymphoma		ISO	RGD:1605295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359565	Mettl6	methyltransferase 6, tRNA N3-cytidine	gene	DOID:10534	stomach cancer		ISO	RGD:1605295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359565	Mettl6	methyltransferase 6, tRNA N3-cytidine	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359565	Mettl6	methyltransferase 6, tRNA N3-cytidine	gene	DOID:2394	ovarian cancer		ISO	RGD:1605295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359565	Mettl6	methyltransferase 6, tRNA N3-cytidine	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359565	Mettl6	methyltransferase 6, tRNA N3-cytidine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359565	Mettl6	methyltransferase 6, tRNA N3-cytidine	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359565	Mettl6	methyltransferase 6, tRNA N3-cytidine	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359565	Mettl6	methyltransferase 6, tRNA N3-cytidine	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1359565	Mettl6	methyltransferase 6, tRNA N3-cytidine	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605295	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151356
1359565	Mettl6	methyltransferase 6, tRNA N3-cytidine	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359567	Plcz1	phospholipase C, zeta 1	gene	DOID:0070174	spermatogenic failure 17		ISO	RGD:1347399	D	RGD:7240710	20190315	OMIM			
1359567	Plcz1	phospholipase C, zeta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359567	Plcz1	phospholipase C, zeta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359568	Zkscan2	zinc finger with KRAB and SCAN domains 2	gene	DOID:1115	sarcoma		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359568	Zkscan2	zinc finger with KRAB and SCAN domains 2	gene	DOID:1324	lung cancer		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359568	Zkscan2	zinc finger with KRAB and SCAN domains 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359568	Zkscan2	zinc finger with KRAB and SCAN domains 2	gene	DOID:3275	thymoma		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359568	Zkscan2	zinc finger with KRAB and SCAN domains 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359568	Zkscan2	zinc finger with KRAB and SCAN domains 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359568	Zkscan2	zinc finger with KRAB and SCAN domains 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359568	Zkscan2	zinc finger with KRAB and SCAN domains 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605808	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359568	Zkscan2	zinc finger with KRAB and SCAN domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359568	Zkscan2	zinc finger with KRAB and SCAN domains 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359568	Zkscan2	zinc finger with KRAB and SCAN domains 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359569	Sypl1	synaptophysin-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346991	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359569	Sypl1	synaptophysin-like 1	gene	DOID:1059	intellectual disability		ISO	RGD:1346991	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1359569	Sypl1	synaptophysin-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359569	Sypl1	synaptophysin-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359569	Sypl1	synaptophysin-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359572	Ino80e	INO80 complex subunit E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359572	Ino80e	INO80 complex subunit E	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1605827	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
1359572	Ino80e	INO80 complex subunit E	gene	DOID:10534	stomach cancer		ISO	RGD:1605827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359572	Ino80e	INO80 complex subunit E	gene	DOID:5041	esophageal cancer		ISO	RGD:1605827	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359572	Ino80e	INO80 complex subunit E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359572	Ino80e	INO80 complex subunit E	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1359572	Ino80e	INO80 complex subunit E	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:10907	microcephaly		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:1115	sarcoma		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:11830	myopia		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:1227	neutropenia		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	PMID:25741868
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:12849	autistic disorder		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinopathy of prematurity	PMID:25741868
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:28492532
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:3275	thymoma		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:28492532
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:630	genetic disease		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:28492532
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:9002620	SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION		ISO	RGD:1353234	D	RGD:7240710	20170412	OMIM			
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:9002620	SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION		ISO	RGD:1353234	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION | ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction | ClinVar Annotator: match by term: XRCC4-related condition	PMID:16199547|PMID:24033266|PMID:25728776|PMID:25741868|PMID:25839420|PMID:26255102|PMID:26822949|PMID:27169690|PMID:28492532
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353234	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:9004814	Chromosome Aberrations		ISO	RGD:1353234	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20726224
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1353234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1359573	Xrcc4	X-ray repair cross complementing 4	gene	DOID:9538	multiple myeloma	susceptibility	ISO	RGD:1353234	D	RGD:8698655|PMID:17901044	20140812	RGD		DNA:SNPs:multiple (human)	
1359574	Os9	OS9, endoplasmic reticulum lectin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359574	Os9	OS9, endoplasmic reticulum lectin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359574	Os9	OS9, endoplasmic reticulum lectin	gene	DOID:1909	melanoma		ISO	RGD:1605693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359574	Os9	OS9, endoplasmic reticulum lectin	gene	DOID:4362	cervical cancer		ISO	RGD:1605693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359574	Os9	OS9, endoplasmic reticulum lectin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359574	Os9	OS9, endoplasmic reticulum lectin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359574	Os9	OS9, endoplasmic reticulum lectin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605693	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary cancer	PMID:25741868
1359574	Os9	OS9, endoplasmic reticulum lectin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359574	Os9	OS9, endoplasmic reticulum lectin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359576	Krt75	keratin 75	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359576	Krt75	keratin 75	gene	DOID:9006643	Pseudofolliculitis Barbae		ISO	RGD:1603409	D	RGD:11554173	20190514	CTD		CTD Direct Evidence: marker/mechanism	
1359576	Krt75	keratin 75	gene	DOID:9006643	Pseudofolliculitis Barbae		ISO	RGD:1603409	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KRT75-related condition	
1359576	Krt75	keratin 75	gene	DOID:9006643	Pseudofolliculitis Barbae	susceptibility	ISO	RGD:1603409	D	RGD:7240710	20190502	OMIM			
1359576	Krt75	keratin 75	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1347979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:10942431|PMID:10993494|PMID:12040521|PMID:12566530|PMID:16616845|PMID:18285821|PMID:20623375|PMID:21896784|PMID:22240777|PMID:23929688|PMID:24033266|PMID:24552312|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32214227|PMID:32875335|PMID:7481775|PMID:8923014
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C		ISO	RGD:1347979	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C		ISO	RGD:1347979	D	RGD:13605619|PMID:25802879	20180611	RGD		DNA:mutation:cds: c.787G>A(p.Glu263Lys) (human)	
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C		ISO	RGD:1347979	D	RGD:7240710	20130221	OMIM			
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C		ISO	RGD:1347979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy type 2C | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: SGCG-related condition	PMID:10447257|PMID:10714584|PMID:10942431|PMID:10993494|PMID:11801399|PMID:12040521|PMID:12532930|PMID:12566530|PMID:12746421|PMID:14981741|PMID:15322984|PMID:16199547|PMID:16616845|PMID:16832103|PMID:17576681|PMID:17994539|PMID:18285821|PMID:18996010|PMID:19167890|PMID:19763152|PMID:19770540|PMID:19781108|PMID:20307669|PMID:20345928|PMID:20623375|PMID:22095924|PMID:22240777|PMID:22406018|PMID:23929688|PMID:24033266|PMID:24534832|PMID:24552312|PMID:25605665|PMID:25640679|PMID:25741868|PMID:25802879|PMID:26467025|PMID:27600705|PMID:27708273|PMID:27759885|PMID:27884122|PMID:28492532|PMID:28687063|PMID:28889091|PMID:30107846|PMID:3076484|PMID:30764848|PMID:30838351|PMID:30919934|PMID:31517061|PMID:32214227|PMID:32875335|PMID:34624274|PMID:36992678|PMID:39472908|PMID:39755676|PMID:7481775|PMID:8923014|PMID:8968757|PMID:9429136|PMID:9536098|PMID:9658457|PMID:9673983|PMID:9781048
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C		ISS	RGD:1552804	D	RGD:13592920	20230718	MouseDO		OMIM:253700	
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D		ISO	RGD:1347979	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Sarcoglycanopathy	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D		ISO	RGD:1347979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoglycanopathy	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28687063
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:11724	limb-girdle muscular dystrophy		ISS	RGD:1552804	D	RGD:13592920	20240425	MouseDO			
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:630	genetic disease		ISO	RGD:1347979	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:8398	osteoarthritis		ISO	RGD:1347979	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359577	Sgcg	sarcoglycan, gamma	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1347979	D	RGD:13605620|PMID:28123479	20180611	RGD		DNA:SNP: : rs9552911(human)	
1359580	Atg5	autophagy related 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359580	Atg5	autophagy related 5	gene	DOID:0080259	autosomal recessive spinocerebellar ataxia 25		ISO	RGD:1353398	D	RGD:7240710	20190315	OMIM			
1359580	Atg5	autophagy related 5	gene	DOID:0080259	autosomal recessive spinocerebellar ataxia 25		ISO	RGD:1353398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25	
1359580	Atg5	autophagy related 5	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	IEP		D	RGD:407532640|PMID:34052187	20240910	RGD			
1359580	Atg5	autophagy related 5	gene	DOID:10534	stomach cancer		ISO	RGD:1353398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359580	Atg5	autophagy related 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359580	Atg5	autophagy related 5	gene	DOID:2355	anemia		ISO	RGD:1353398	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
1359580	Atg5	autophagy related 5	gene	DOID:326	ischemia		IEP		D	RGD:11561945|PMID:25435100	20161114	RGD			
1359580	Atg5	autophagy related 5	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1556965	D	RGD:11561951|PMID:23851366	20161114	RGD		mRNA:increased expression:spinal cord	
1359580	Atg5	autophagy related 5	gene	DOID:4362	cervical cancer		ISO	RGD:1353398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359580	Atg5	autophagy related 5	gene	DOID:5082	liver cirrhosis		ISO	RGD:1353398	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:33549628
1359580	Atg5	autophagy related 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359580	Atg5	autophagy related 5	gene	DOID:614	lymphopenia		ISO	RGD:1353398	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
1359580	Atg5	autophagy related 5	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:11553820|PMID:25040536	20161013	RGD		protein:increased expression:axon	
1359580	Atg5	autophagy related 5	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1353398	D	RGD:11554173	20190702	CTD		CTD Direct Evidence: marker/mechanism	PMID:29793971
1359580	Atg5	autophagy related 5	gene	DOID:9001981	Weight Loss		ISO	RGD:1353398	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
1359580	Atg5	autophagy related 5	gene	DOID:9002321	Teratozoospermia		ISO	RGD:1353398	D	RGD:11554173	20231031	CTD		CTD Direct Evidence: marker/mechanism	PMID:37506864
1359580	Atg5	autophagy related 5	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1353398	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28408137
1359580	Atg5	autophagy related 5	gene	DOID:9003936	Cardiomegaly	treatment	IEP		D	RGD:11561938|PMID:24998254	20161111	RGD			
1359580	Atg5	autophagy related 5	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1353398	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22491424
1359580	Atg5	autophagy related 5	gene	DOID:9005749	Necrosis		ISO	RGD:1353398	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20578144
1359580	Atg5	autophagy related 5	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1353398	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22491424
1359580	Atg5	autophagy related 5	gene	DOID:9008617	Lethargy		ISO	RGD:1353398	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
1359581	Ier2	immediate early response 2	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	ISO	RGD:1343257	D	RGD:153323322|PMID:22120713	20220815	RGD		protein:increased expression:colon (human)	
1359581	Ier2	immediate early response 2	gene	DOID:0070323	childhood acute myeloid leukemia		ISO	RGD:1343257	D	RGD:153323323|PMID:34702297	20220815	RGD		mRNA:increased expression:bone marrow (human)	
1359581	Ier2	immediate early response 2	gene	DOID:0080600	COVID-19		ISO	RGD:1343257	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
1359581	Ier2	immediate early response 2	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:1343257	D	RGD:153323325|PMID:34611309	20220816	RGD		mRNA:increased expression:skin (human)	
1359581	Ier2	immediate early response 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343257	D	RGD:153323326|PMID:32009420	20220816	RGD		mRNA, protein:decreased expression:liver (human)	
1359581	Ier2	immediate early response 2	gene	DOID:9000081	Lymphatic Metastasis		IMP		D	RGD:153323322|PMID:22120713	20220815	RGD			
1359581	Ier2	immediate early response 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1343257	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
1359581	Ier2	immediate early response 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1343257	D	RGD:153323328|PMID:34311674	20220816	RGD		DNA:hypomethylation:promoter (human)	
1359583	Coxfa4l3	cytochrome c oxidase associated subunit FA4L3	gene	DOID:10534	stomach cancer		ISO	RGD:1601736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359583	Coxfa4l3	cytochrome c oxidase associated subunit FA4L3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359583	Coxfa4l3	cytochrome c oxidase associated subunit FA4L3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359585	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1604775	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359585	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359585	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:1324	lung cancer		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359585	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:1909	melanoma		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359585	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359585	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359585	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604775	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359585	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359585	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359585	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359585	Fhip1b	FHF complex subunit HOOK interacting protein 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:10534	stomach cancer		ISO	RGD:1351918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:1115	sarcoma		ISO	RGD:1351918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:1324	lung cancer		ISO	RGD:1351918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1351918	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:5041	esophageal cancer		ISO	RGD:1351918	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1351918	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:9000918	Disease Progression		ISO	RGD:1351918	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1351918	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1351918	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359587	Mrpl13	mitochondrial ribosomal protein L13	gene	DOID:9256	colorectal cancer		ISO	RGD:1351918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359588	Dnase1l1	deoxyribonuclease 1-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359588	Dnase1l1	deoxyribonuclease 1-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359588	Dnase1l1	deoxyribonuclease 1-like 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1348755	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614
1359588	Dnase1l1	deoxyribonuclease 1-like 1	gene	DOID:1909	melanoma		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359588	Dnase1l1	deoxyribonuclease 1-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359588	Dnase1l1	deoxyribonuclease 1-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359588	Dnase1l1	deoxyribonuclease 1-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359588	Dnase1l1	deoxyribonuclease 1-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359588	Dnase1l1	deoxyribonuclease 1-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359589	Dnajc28	DnaJ heat shock protein family (Hsp40) member C28	gene	DOID:1059	intellectual disability		ISO	RGD:1353353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	
1359589	Dnajc28	DnaJ heat shock protein family (Hsp40) member C28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359592	Fam149b1	family with sequence similarity 149, member B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359592	Fam149b1	family with sequence similarity 149, member B1	gene	DOID:1115	sarcoma		ISO	RGD:1351219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359592	Fam149b1	family with sequence similarity 149, member B1	gene	DOID:3275	thymoma		ISO	RGD:1351219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359592	Fam149b1	family with sequence similarity 149, member B1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359592	Fam149b1	family with sequence similarity 149, member B1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351219	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359592	Fam149b1	family with sequence similarity 149, member B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359592	Fam149b1	family with sequence similarity 149, member B1	gene	DOID:9009141	Joubert Syndrome 36		ISO	RGD:1351219	D	RGD:7240710	20200226	OMIM			
1359592	Fam149b1	family with sequence similarity 149, member B1	gene	DOID:9009141	Joubert Syndrome 36		ISO	RGD:1351219	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FAM149B1-related disorder | ClinVar Annotator: match by term: JOUBERT SYNDROME 36 | ClinVar Annotator: match by term: Joubert syndrome 36	PMID:25741868
1359592	Fam149b1	family with sequence similarity 149, member B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359593	Cep83	centrosomal protein 83	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359593	Cep83	centrosomal protein 83	gene	DOID:0060340	ciliopathy		ISO	RGD:1606008	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ciliopathy	PMID:25741868|PMID:28492532
1359593	Cep83	centrosomal protein 83	gene	DOID:0111125	nephronophthisis 18		ISO	RGD:1606008	D	RGD:7240710	20140911	OMIM			
1359593	Cep83	centrosomal protein 83	gene	DOID:0111125	nephronophthisis 18		ISO	RGD:1606008	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CEP83-related condition | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 18 | ClinVar Annotator: match by term: Nephronophthisis 18	PMID:16199547|PMID:17576681|PMID:23530209|PMID:24882706|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9536098
1359593	Cep83	centrosomal protein 83	gene	DOID:1115	sarcoma		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359593	Cep83	centrosomal protein 83	gene	DOID:11372	megacolon		ISO	RGD:1606008	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
1359593	Cep83	centrosomal protein 83	gene	DOID:3275	thymoma		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1359593	Cep83	centrosomal protein 83	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359593	Cep83	centrosomal protein 83	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359593	Cep83	centrosomal protein 83	gene	DOID:6039	uveal melanoma		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1359593	Cep83	centrosomal protein 83	gene	DOID:630	genetic disease		ISO	RGD:1606008	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359593	Cep83	centrosomal protein 83	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1359593	Cep83	centrosomal protein 83	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1359593	Cep83	centrosomal protein 83	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359596	Dnaaf8	dynein axonemal assembly factor 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359596	Dnaaf8	dynein axonemal assembly factor 8	gene	DOID:10534	stomach cancer		ISO	RGD:1604523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359596	Dnaaf8	dynein axonemal assembly factor 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359596	Dnaaf8	dynein axonemal assembly factor 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359596	Dnaaf8	dynein axonemal assembly factor 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359597	Krt73	keratin 73	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:1605236	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349890
1359597	Krt73	keratin 73	gene	DOID:5041	esophageal cancer		ISO	RGD:1605236	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359599	Wsb2	WD repeat and SOCS box-containing 2	gene	DOID:0070700	Luo-Agrawal neurodevelopmental syndrome		ISO	RGD:1346731	D	RGD:7240710	20260506	OMIM			
1359599	Wsb2	WD repeat and SOCS box-containing 2	gene	DOID:0070700	Luo-Agrawal neurodevelopmental syndrome		ISO	RGD:1346731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LUO-AGRAWAL NEURODEVELOPMENTAL SYNDROME	
1359599	Wsb2	WD repeat and SOCS box-containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1346731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359599	Wsb2	WD repeat and SOCS box-containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359599	Wsb2	WD repeat and SOCS box-containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359599	Wsb2	WD repeat and SOCS box-containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359600	Mims1	mitochondrial inner membrane scaffold 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359600	Mims1	mitochondrial inner membrane scaffold 1	gene	DOID:1115	sarcoma		ISO	RGD:1352066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359600	Mims1	mitochondrial inner membrane scaffold 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359600	Mims1	mitochondrial inner membrane scaffold 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359600	Mims1	mitochondrial inner membrane scaffold 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359600	Mims1	mitochondrial inner membrane scaffold 1	gene	DOID:9002589	Bone Fractures		ISO	RGD:1352066	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22504420
1359601	Whr1	winged helix repair factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359601	Whr1	winged helix repair factor 1	gene	DOID:0060058	lymphoma		ISO	RGD:1347475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359601	Whr1	winged helix repair factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359601	Whr1	winged helix repair factor 1	gene	DOID:1909	melanoma		ISO	RGD:1347475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359601	Whr1	winged helix repair factor 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1347475	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26950094
1359601	Whr1	winged helix repair factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359601	Whr1	winged helix repair factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359601	Whr1	winged helix repair factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359602	Dnai2	dynein, axonemal, intermediate chain 2	gene	DOID:0050144	Kartagener syndrome		ISS	RGD:1615480	D	RGD:13592920	20180518	MouseDO			
1359602	Dnai2	dynein, axonemal, intermediate chain 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347605	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1359602	Dnai2	dynein, axonemal, intermediate chain 2	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1347605	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359602	Dnai2	dynein, axonemal, intermediate chain 2	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1347605	D	RGD:7240710	20130221	OMIM			
1359602	Dnai2	dynein, axonemal, intermediate chain 2	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1347605	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DNAI2-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 9 | ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:18950741|PMID:23261302|PMID:23891469|PMID:24033266|PMID:25741868|PMID:25802884|PMID:28492532|PMID:31681265|PMID:33447612|PMID:35728977
1359602	Dnai2	dynein, axonemal, intermediate chain 2	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1347605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:28492532
1359602	Dnai2	dynein, axonemal, intermediate chain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347605	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1359602	Dnai2	dynein, axonemal, intermediate chain 2	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1347605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:18950741|PMID:20301301|PMID:23261302|PMID:23891469|PMID:24033266|PMID:24498942|PMID:25640679|PMID:25741868|PMID:25802884|PMID:28492532|PMID:31681265|PMID:31879361|PMID:32253119|PMID:33447612|PMID:34693619|PMID:35728977|PMID:35886035|PMID:36303540|PMID:9536098
1359602	Dnai2	dynein, axonemal, intermediate chain 2	gene	DOID:9562	primary ciliary dyskinesia		ISS	RGD:1615480	D	RGD:13592920	20180518	MouseDO			
1359603	N4bp2l2	NEDD4 binding protein 2-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359603	N4bp2l2	NEDD4 binding protein 2-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359603	N4bp2l2	NEDD4 binding protein 2-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359603	N4bp2l2	NEDD4 binding protein 2-like 2	gene	DOID:1909	melanoma		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359603	N4bp2l2	NEDD4 binding protein 2-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359603	N4bp2l2	NEDD4 binding protein 2-like 2	gene	DOID:37	skin disease		ISO	RGD:1603408	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1359603	N4bp2l2	NEDD4 binding protein 2-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359603	N4bp2l2	NEDD4 binding protein 2-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359603	N4bp2l2	NEDD4 binding protein 2-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359603	N4bp2l2	NEDD4 binding protein 2-like 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1603408	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1359603	N4bp2l2	NEDD4 binding protein 2-like 2	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1603408	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1359603	N4bp2l2	NEDD4 binding protein 2-like 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1603408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359604	Ttc1	tetratricopeptide repeat domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359604	Ttc1	tetratricopeptide repeat domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359604	Ttc1	tetratricopeptide repeat domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359604	Ttc1	tetratricopeptide repeat domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359604	Ttc1	tetratricopeptide repeat domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359604	Ttc1	tetratricopeptide repeat domain 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359604	Ttc1	tetratricopeptide repeat domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359604	Ttc1	tetratricopeptide repeat domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359605	Dbx2	developing brain homeobox 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359605	Dbx2	developing brain homeobox 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359606	Zfp385d	zinc finger protein 385D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359606	Zfp385d	zinc finger protein 385D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359606	Zfp385d	zinc finger protein 385D	gene	DOID:10534	stomach cancer		ISO	RGD:1354143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359606	Zfp385d	zinc finger protein 385D	gene	DOID:1115	sarcoma		ISO	RGD:1354143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359606	Zfp385d	zinc finger protein 385D	gene	DOID:1324	lung cancer		ISO	RGD:1354143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359606	Zfp385d	zinc finger protein 385D	gene	DOID:1909	melanoma		ISO	RGD:1354143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359606	Zfp385d	zinc finger protein 385D	gene	DOID:303	substance-related disorder		ISO	RGD:1354143	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1359606	Zfp385d	zinc finger protein 385D	gene	DOID:3275	thymoma		ISO	RGD:1354143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359606	Zfp385d	zinc finger protein 385D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359606	Zfp385d	zinc finger protein 385D	gene	DOID:670	amphetamine abuse		ISO	RGD:1354143	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:0081142	agammaglobulinemia 10		ISO	RGD:1344411	D	RGD:7240710	20220202	OMIM			
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:0081142	agammaglobulinemia 10		ISO	RGD:1344411	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant	PMID:25741868|PMID:33951726
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:1574	alcohol use disorder		IEP		D	RGD:9586723|PMID:16272341	20141002	RGD		protein:decreased expression:alveolar macrophage	
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:1574	alcohol use disorder	treatment	IDA		D	RGD:9586725|PMID:21447000	20141002	RGD			
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:1909	melanoma		ISO	RGD:1344411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1344411	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Agammaglobulinemia	PMID:25741868|PMID:33951726
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:5041	esophageal cancer		ISO	RGD:1344411	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1344411	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:28671687
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:8692	myeloid leukemia		ISO	RGD:1344411	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:17361223
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:9003676	Brain Hypoxia-Ischemia		IEP		D	RGD:9586724|PMID:10713349	20141002	RGD		protein:increased expression:CA1 field of hippocampus	
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:9004283	Transplant Rejection	treatment	IMP		D	RGD:9586451|PMID:24282365	20141001	RGD			
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344411	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26237430
1359607	Spi1	Spi-1 proto-oncogene	gene	DOID:9119	acute myeloid leukemia		ISS	RGD:1553307	D	RGD:13592920	20230718	MouseDO		OMIM:601626	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:10534	stomach cancer		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:1115	sarcoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:1909	melanoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1605124	D	RGD:9590111|PMID:20164540	20141112	RGD		protein:increased expression:ovary (human)	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:3070	high grade glioma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:3275	thymoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1605124	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:9003566	Mesothelioma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:9007456	Female Infertility		ISO	RGD:1552828	D	RGD:9590110|PMID:19219058	20141112	RGD			
1359609	Nasp	nuclear autoantigenic sperm protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359613	Creb3l1	cAMP responsive element binding protein 3-like 1	gene	DOID:0110345	osteogenesis imperfecta type 16		ISO	RGD:1342471	D	RGD:7240710	20190315	OMIM			
1359613	Creb3l1	cAMP responsive element binding protein 3-like 1	gene	DOID:0110345	osteogenesis imperfecta type 16		ISO	RGD:1342471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CREB3L1-related condition | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XVI | ClinVar Annotator: match by term: Osteogenesis imperfecta type 16 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvi	PMID:24033266|PMID:25741868|PMID:28492532
1359613	Creb3l1	cAMP responsive element binding protein 3-like 1	gene	DOID:3275	thymoma		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359613	Creb3l1	cAMP responsive element binding protein 3-like 1	gene	DOID:3307	teratoma		ISO	RGD:1342471	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Teratoma	
1359613	Creb3l1	cAMP responsive element binding protein 3-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359613	Creb3l1	cAMP responsive element binding protein 3-like 1	gene	DOID:630	genetic disease		ISO	RGD:1342471	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359613	Creb3l1	cAMP responsive element binding protein 3-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359613	Creb3l1	cAMP responsive element binding protein 3-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359613	Creb3l1	cAMP responsive element binding protein 3-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359614	Ffar2	free fatty acid receptor 2	gene	DOID:10825	essential hypertension		ISO	RGD:1347517	D	RGD:11554173	20221108	CTD		CTD Direct Evidence: marker/mechanism	PMID:34453990
1359615	Dlst	dihydrolipoamide S-succinyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359615	Dlst	dihydrolipoamide S-succinyltransferase	gene	DOID:0050773	paraganglioma		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:25741868|PMID:28492532
1359615	Dlst	dihydrolipoamide S-succinyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359615	Dlst	dihydrolipoamide S-succinyltransferase	gene	DOID:0061222	pheochromocytoma/paraganglioma syndrome 7		ISO	RGD:1351694	D	RGD:7240710	20190710	OMIM			
1359615	Dlst	dihydrolipoamide S-succinyltransferase	gene	DOID:0061222	pheochromocytoma/paraganglioma syndrome 7		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DLST-related condition | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 7	PMID:25741868|PMID:28492532|PMID:30929736|PMID:33180916
1359615	Dlst	dihydrolipoamide S-succinyltransferase	gene	DOID:0081326	oxoglutarate dehydrogenase deficiency		ISO	RGD:1351694	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Oxoglutaricaciduria	
1359615	Dlst	dihydrolipoamide S-succinyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359615	Dlst	dihydrolipoamide S-succinyltransferase	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1351694	D	RGD:9068941	20200806	RGD		DNA:polymorphisms: :	PMID:10227647|REF_RGD_ID:1358587
1359615	Dlst	dihydrolipoamide S-succinyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359615	Dlst	dihydrolipoamide S-succinyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1351694	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359615	Dlst	dihydrolipoamide S-succinyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359615	Dlst	dihydrolipoamide S-succinyltransferase	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:25741868|PMID:28492532
1359615	Dlst	dihydrolipoamide S-succinyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359615	Dlst	dihydrolipoamide S-succinyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359616	Ints14	integrator complex subunit 14	gene	DOID:10534	stomach cancer		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359616	Ints14	integrator complex subunit 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359616	Ints14	integrator complex subunit 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359616	Ints14	integrator complex subunit 14	gene	DOID:3275	thymoma		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359616	Ints14	integrator complex subunit 14	gene	DOID:4362	cervical cancer		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359616	Ints14	integrator complex subunit 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1604589	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359616	Ints14	integrator complex subunit 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359616	Ints14	integrator complex subunit 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359616	Ints14	integrator complex subunit 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359617	Pxylp1	2-phosphoxylose phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359617	Pxylp1	2-phosphoxylose phosphatase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359617	Pxylp1	2-phosphoxylose phosphatase 1	gene	DOID:1115	sarcoma		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359617	Pxylp1	2-phosphoxylose phosphatase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359617	Pxylp1	2-phosphoxylose phosphatase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342803	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359617	Pxylp1	2-phosphoxylose phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359617	Pxylp1	2-phosphoxylose phosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359618	Dhx40	DEAH-box helicase 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359618	Dhx40	DEAH-box helicase 40	gene	DOID:10534	stomach cancer		ISO	RGD:1350869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359618	Dhx40	DEAH-box helicase 40	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359618	Dhx40	DEAH-box helicase 40	gene	DOID:1324	lung cancer		ISO	RGD:1350869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359618	Dhx40	DEAH-box helicase 40	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359618	Dhx40	DEAH-box helicase 40	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359618	Dhx40	DEAH-box helicase 40	gene	DOID:4362	cervical cancer		ISO	RGD:1350869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359618	Dhx40	DEAH-box helicase 40	gene	DOID:5041	esophageal cancer		ISO	RGD:1350869	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359618	Dhx40	DEAH-box helicase 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359618	Dhx40	DEAH-box helicase 40	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359618	Dhx40	DEAH-box helicase 40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359619	Ssbp4	single stranded DNA binding protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359619	Ssbp4	single stranded DNA binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359619	Ssbp4	single stranded DNA binding protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359619	Ssbp4	single stranded DNA binding protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359619	Ssbp4	single stranded DNA binding protein 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359619	Ssbp4	single stranded DNA binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359619	Ssbp4	single stranded DNA binding protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359619	Ssbp4	single stranded DNA binding protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359620	Tnfsf12	TNF superfamily member 12	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1350160	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
1359620	Tnfsf12	TNF superfamily member 12	gene	DOID:0080600	COVID-19		ISO	RGD:1350160	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1359620	Tnfsf12	TNF superfamily member 12	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:127300174|RGD:127313555|RGD:13479881|RGD:13492438|RGD:13539723|RGD:13611697|RGD:13611708|RGD:14397044|RGD:15149132|RGD:151822336|RGD:151840627|RGD:26909058|RGD:26912806|RGD:38466870|RGD:405154840	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency	PMID:25741868|PMID:28492532
1359620	Tnfsf12	TNF superfamily member 12	gene	DOID:552	pneumonia		ISO	RGD:1350160	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1359620	Tnfsf12	TNF superfamily member 12	gene	DOID:9000998	Brain Injuries		ISO	RGD:1350160	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
1359621	Ribc1	RIB43A domain with coiled-coils 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359621	Ribc1	RIB43A domain with coiled-coils 1	gene	DOID:1909	melanoma		ISO	RGD:1344064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359621	Ribc1	RIB43A domain with coiled-coils 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359621	Ribc1	RIB43A domain with coiled-coils 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359621	Ribc1	RIB43A domain with coiled-coils 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359621	Ribc1	RIB43A domain with coiled-coils 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359622	Ttll9	tubulin tyrosine ligase like 9	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1345675	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1359622	Ttll9	tubulin tyrosine ligase like 9	gene	DOID:10534	stomach cancer		ISO	RGD:1345675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359622	Ttll9	tubulin tyrosine ligase like 9	gene	DOID:1115	sarcoma		ISO	RGD:1345675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359622	Ttll9	tubulin tyrosine ligase like 9	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1345675	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1359622	Ttll9	tubulin tyrosine ligase like 9	gene	DOID:3070	high grade glioma		ISO	RGD:1345675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359622	Ttll9	tubulin tyrosine ligase like 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359622	Ttll9	tubulin tyrosine ligase like 9	gene	DOID:4362	cervical cancer		ISO	RGD:1345675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359622	Ttll9	tubulin tyrosine ligase like 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359622	Ttll9	tubulin tyrosine ligase like 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359622	Ttll9	tubulin tyrosine ligase like 9	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1345675	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:0060201	amyotrophic lateral sclerosis type 10		ISO	RGD:1344170	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10	PMID:25741868
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:0060355	amyotrophic lateral sclerosis type 22		ISO	RGD:1344170	D	RGD:7240710	20160608	OMIM			
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:0060355	amyotrophic lateral sclerosis type 22		ISO	RGD:1344170	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 | ClinVar Annotator: match by term: TUBA4A-related condition	PMID:25741868|PMID:26465396|PMID:26675813|PMID:28492532
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:0061257	congenital myopathy 26		ISO	RGD:1344170	D	RGD:7240710	20250625	OMIM			
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:0061257	congenital myopathy 26		ISO	RGD:1344170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 26 | ClinVar Annotator: match by term: Congenital myopathy 26	PMID:25741868|PMID:38413182|PMID:40666348
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:0080855	Parkinsonism		ISO	RGD:1344170	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:1324	lung cancer		ISO	RGD:1344170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1344170	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:28478440
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1344170	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis	PMID:25741868
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1344170	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:630	genetic disease		ISO	RGD:1344170	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:9009348	Oocyte/Zygote/Embryo Maturation Arrest 23		ISO	RGD:1344170	D	RGD:7240710	20250625	OMIM			
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:9009348	Oocyte/Zygote/Embryo Maturation Arrest 23		ISO	RGD:1344170	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 23	
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:9009349	Spastic ataxia 11, autosomal dominant		ISO	RGD:1344170	D	RGD:7240710	20250625	OMIM			
1359623	Tuba4a	tubulin, alpha 4A	gene	DOID:9009349	Spastic ataxia 11, autosomal dominant		ISO	RGD:1344170	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC ATAXIA 11, AUTOSOMAL DOMINANT	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:0070019	autosomal recessive dyskeratosis congenita 3		ISO	RGD:1605665	D	RGD:7240710	20140911	OMIM			
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:0070019	autosomal recessive dyskeratosis congenita 3		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 3 | ClinVar Annotator: match by term: WRAP53-related condition	PMID:20301779|PMID:21205863|PMID:21602826|PMID:25741868|PMID:26822237|PMID:28125078|PMID:28492532|PMID:30552426|PMID:34573280|PMID:36116037|PMID:39316766
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:10534	stomach cancer		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:1324	lung cancer		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: tumor	PMID:25741868|PMID:37149759
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:1612	breast cancer		ISO	RGD:1605665	D	RGD:11251665|PMID:26460974	20200224	RGD		protein:altered localization:nucleus,cytoplasm:	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:1612	breast cancer		ISO	RGD:1605665	D	RGD:8554872	20200410	ClinVar		ClinVar Annotator: match by term: Breast Cancer	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:1612	breast cancer	no_association	ISO	RGD:1605665	D	RGD:21081531|PMID:25134915	20200224	RGD		DNA:SNP: : rs2287499(human)	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:1909	melanoma		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:1984	rectal benign neoplasm	treatment	ISO	RGD:1605665	D	RGD:21081677|PMID:22805008	20200226	RGD			
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1605665	D	RGD:11522675|PMID:26426684	20200224	RGD			
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:2394	ovarian cancer	susceptibility	ISO	RGD:1605665	D	RGD:21081534|PMID:23192612	20200224	RGD		DNA:SNPs: :	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:25741868|PMID:26822237|PMID:28125078|PMID:28492532|PMID:36116037
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:3012	Li-Fraumeni syndrome		ISO	RGD:1605665	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni	PMID:17576681|PMID:17683073|PMID:18511570|PMID:20522432|PMID:21056402|PMID:23172776|PMID:24033266|PMID:25741868|PMID:25762628|PMID:26681312|PMID:28492532|PMID:9242456|PMID:9536098
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1605665	D	RGD:21081532|PMID:24626331	20200224	RGD			
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1605665	D	RGD:21081513|PMID:31281482	20200221	RGD		RNA:increased expression:lung	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1605665	D	RGD:21081519|PMID:30344734	20200224	RGD		DNA:hypermethylation:promoter	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1605665	D	RGD:21081522|PMID:28347242	20200224	RGD			
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:4362	cervical cancer		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:5520	head and neck squamous cell carcinoma	treatment	ISO	RGD:1605665	D	RGD:21081529|PMID:25456005	20200224	RGD			
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:5520	head and neck squamous cell carcinoma	treatment	ISO	RGD:1605665	D	RGD:21081533|PMID:25070141	20200224	RGD			
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605665	D	RGD:11096781|PMID:26551349	20200224	RGD		RNA:increased expression:liver:	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:7031	glottis squamous cell carcinoma	disease_progression	ISO	RGD:1605665	D	RGD:21081521|PMID:28849066	20200224	RGD			
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605665	D	RGD:21081513|PMID:31281482	20200221	RGD		associated with lung non-small cell carcinoma;	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605665	D	RGD:21081532|PMID:24626331	20200224	RGD		associated with esophagus squamous cell carcinoma;	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:9004373	Autosomal Recessive Dyskeratosis Congenita		ISO	RGD:1605665	D	RGD:21081678|PMID:21205863	20200226	RGD		DNA:mutations:exons:	
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605665	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:21205863|PMID:25741868|PMID:28492532|PMID:9536098
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605665	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:20301779|PMID:21205863|PMID:25741868|PMID:28492532|PMID:32303682|PMID:37149759
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:21205863|PMID:25741868|PMID:28492532
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:9007633	Body Weight		ISO	RGD:1605665	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:31243981
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:9256	colorectal cancer		ISO	RGD:1605665	D	RGD:21081520|PMID:30175821	20200224	RGD			
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:9256	colorectal cancer	onset	ISO	RGD:1605665	D	RGD:21081528|PMID:26013439	20200224	RGD			
1359624	Wrap53	WD repeat containing, antisense to TP53	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1605665	D	RGD:21081524|PMID:28607398	20200224	RGD		associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium	
1359625	Ltap1	lipid transport auxiliary protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359625	Ltap1	lipid transport auxiliary protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1603678	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1359625	Ltap1	lipid transport auxiliary protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359625	Ltap1	lipid transport auxiliary protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359625	Ltap1	lipid transport auxiliary protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359625	Ltap1	lipid transport auxiliary protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359625	Ltap1	lipid transport auxiliary protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359625	Ltap1	lipid transport auxiliary protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359625	Ltap1	lipid transport auxiliary protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359626	Igg-2a	gamma-2a immunoglobulin heavy chain	gene	DOID:0080600	COVID-19		ISO	RGD:1346926	D	RGD:9068941	20220114	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1359626	Igg-2a	gamma-2a immunoglobulin heavy chain	gene	DOID:3021	acute kidney failure		EXP		D	RGD:11554173	20180410	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
1359626	Igg-2a	gamma-2a immunoglobulin heavy chain	gene	DOID:9005369	Hepatomegaly		EXP		D	RGD:11554173	20180130	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1359626	Igg-2a	gamma-2a immunoglobulin heavy chain	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		EXP		D	RGD:11554173	20180410	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
1359627	Zbtb22	zinc finger and BTB domain containing 22	gene	DOID:1115	sarcoma		ISO	RGD:1352119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359629	Emp2	epithelial membrane protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359629	Emp2	epithelial membrane protein 2	gene	DOID:0080386	nephrotic syndrome type 10		ISO	RGD:1344065	D	RGD:7240710	20170329	OMIM			
1359629	Emp2	epithelial membrane protein 2	gene	DOID:0080386	nephrotic syndrome type 10		ISO	RGD:1344065	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: EMP2-related condition | ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 10 | ClinVar Annotator: match by term: Nephrotic syndrome, type 10	PMID:24814193|PMID:25741868|PMID:28106320|PMID:28492532
1359629	Emp2	epithelial membrane protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359629	Emp2	epithelial membrane protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1344065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359629	Emp2	epithelial membrane protein 2	gene	DOID:3891	placental insufficiency		ISS	RGD:1552846	D	RGD:13592920	20180518	MouseDO			
1359629	Emp2	epithelial membrane protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1344065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359629	Emp2	epithelial membrane protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359629	Emp2	epithelial membrane protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359630	RT1-CE15	RT1 class I, locus CE15	gene	DOID:1245	vulva cancer	susceptibility	ISO	RGD:1349444	D	RGD:2314696|PMID:12543794	20210309	RGD		associated with Papillomavirus Infections;DNA:polymorphism: :HLA-A2	
1359630	RT1-CE15	RT1 class I, locus CE15	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:1349444	D	RGD:36049809|PMID:19030725	20210309	RGD		associated with  acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31	
1359630	RT1-CE15	RT1 class I, locus CE15	gene	DOID:635	acquired immunodeficiency syndrome	susceptibility	ISO	RGD:1349444	D	RGD:36049809|PMID:19030725	20210309	RGD		DNA:polymorphism: :HLA-A31	
1359631	Tceal8	transcription elongation factor A like 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359631	Tceal8	transcription elongation factor A like 8	gene	DOID:12849	autistic disorder		ISO	RGD:14351525	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:30208311
1359631	Tceal8	transcription elongation factor A like 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359633	Neurl3	neuralized E3 ubiquitin protein ligase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359633	Neurl3	neuralized E3 ubiquitin protein ligase 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359634	C7h22orf23	similar to human chromosome 22 open reading frame 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359634	C7h22orf23	similar to human chromosome 22 open reading frame 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1351784	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359634	C7h22orf23	similar to human chromosome 22 open reading frame 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359634	C7h22orf23	similar to human chromosome 22 open reading frame 23	gene	DOID:6039	uveal melanoma		ISO	RGD:1351784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1359638	Cdk9	cyclin-dependent kinase 9	gene	DOID:0050902	medulloblastoma		ISO	RGD:1346548	D	RGD:11554173	20210601	CTD		CTD Direct Evidence: marker/mechanism	PMID:31594641
1359638	Cdk9	cyclin-dependent kinase 9	gene	DOID:1324	lung cancer		ISO	RGD:1346548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359638	Cdk9	cyclin-dependent kinase 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359638	Cdk9	cyclin-dependent kinase 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1346548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359638	Cdk9	cyclin-dependent kinase 9	gene	DOID:3275	thymoma		ISO	RGD:1346548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359638	Cdk9	cyclin-dependent kinase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359638	Cdk9	cyclin-dependent kinase 9	gene	DOID:6000	congestive heart failure		ISO	RGD:1346548	D	RGD:1556509|PMID:15297879	20150213	RGD		protein:increased activity:ventricle:	
1359638	Cdk9	cyclin-dependent kinase 9	gene	DOID:6000	congestive heart failure		ISO	RGD:1552365	D	RGD:1556509|PMID:15297879	20150213	RGD		protein:increased activity:heart:	
1359638	Cdk9	cyclin-dependent kinase 9	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:9698426|PMID:20828602	20150213	RGD		mRNA,protein:decreased expression:liver:	
1359638	Cdk9	cyclin-dependent kinase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359642	Igsf5	immunoglobulin superfamily, member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359642	Igsf5	immunoglobulin superfamily, member 5	gene	DOID:1115	sarcoma		ISO	RGD:1352549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359642	Igsf5	immunoglobulin superfamily, member 5	gene	DOID:3275	thymoma		ISO	RGD:1352549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359642	Igsf5	immunoglobulin superfamily, member 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359642	Igsf5	immunoglobulin superfamily, member 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359642	Igsf5	immunoglobulin superfamily, member 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1352549	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1359642	Igsf5	immunoglobulin superfamily, member 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1359642	Igsf5	immunoglobulin superfamily, member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359645	Trim40	tripartite motif-containing 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359645	Trim40	tripartite motif-containing 40	gene	DOID:1909	melanoma		ISO	RGD:1346356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359645	Trim40	tripartite motif-containing 40	gene	DOID:2772	irritant dermatitis		ISO	RGD:1346356	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27258892
1359645	Trim40	tripartite motif-containing 40	gene	DOID:5041	esophageal cancer		ISO	RGD:1346356	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359645	Trim40	tripartite motif-containing 40	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359646	Gtf2f1	general transcription factor IIF subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359646	Gtf2f1	general transcription factor IIF subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359646	Gtf2f1	general transcription factor IIF subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1343690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359646	Gtf2f1	general transcription factor IIF subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359646	Gtf2f1	general transcription factor IIF subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1343690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359646	Gtf2f1	general transcription factor IIF subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359646	Gtf2f1	general transcription factor IIF subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343690	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359646	Gtf2f1	general transcription factor IIF subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359646	Gtf2f1	general transcription factor IIF subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359646	Gtf2f1	general transcription factor IIF subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359646	Gtf2f1	general transcription factor IIF subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359646	Gtf2f1	general transcription factor IIF subunit 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1343690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359648	Skp1	S-phase kinase-associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347276	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359648	Skp1	S-phase kinase-associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359648	Skp1	S-phase kinase-associated protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359648	Skp1	S-phase kinase-associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359648	Skp1	S-phase kinase-associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359648	Skp1	S-phase kinase-associated protein 1	gene	DOID:9003318	Keratoconus 1		ISO	RGD:1347276	D	RGD:8554872	20170711	ClinVar		ClinVar Annotator: match by term: Keratoconus 1	
1359649	Abhd14b	abhydrolase domain containing 14b	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359649	Abhd14b	abhydrolase domain containing 14b	gene	DOID:1115	sarcoma		ISO	RGD:1603002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359649	Abhd14b	abhydrolase domain containing 14b	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359649	Abhd14b	abhydrolase domain containing 14b	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351512	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:0050765	neuroacanthocytosis		ISO	RGD:1351512	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8619554|PMID:11761473
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:0112107	McLeod syndrome		ISO	RGD:1351512	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:0112107	McLeod syndrome		ISO	RGD:1351512	D	RGD:7240710	20141015	OMIM			
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:0112107	McLeod syndrome		ISO	RGD:1351512	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MCLEOD SYNDROME | ClinVar Annotator: match by term: XK-related condition	PMID:11761473|PMID:17133513|PMID:28492532
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:150	disease of mental health		ISO	RGD:1351512	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11261514
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1351512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:440	neuromuscular disease		ISO	RGD:1351512	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8004674|PMID:8619554
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:480	movement disease		ISO	RGD:1351512	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11261514
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1351512	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11761473
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:630	genetic disease		ISO	RGD:1351512	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:74	hematopoietic system disease		ISO	RGD:1351512	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8004674|PMID:8619554
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:74	hematopoietic system disease		ISO	RGD:1351512	D	RGD:1354522|PMID:8004674	20070220	RGD		McLeod syndrome, OMIM:314850	
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:9006065	Arthralgia		ISO	RGD:1351512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:9006386	Scapulohumeral Muscular Dystrophy		ISO	RGD:1351512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scapulohumeral muscular dystrophy	PMID:25741868
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359650	Xk	X-linked Kx blood group antigen, Kell and VPS13A binding protein	gene	DOID:9884	muscular dystrophy		ISO	RGD:1351512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:0110204	Charcot-Marie-Tooth disease recessive intermediate B		ISO	RGD:1345099	D	RGD:7240710	20130221	OMIM			
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:0110204	Charcot-Marie-Tooth disease recessive intermediate B		ISO	RGD:1345099	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B	PMID:24033266|PMID:25741868|PMID:28492532
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:0110534	autosomal recessive nonsyndromic deafness 89		ISO	RGD:1345099	D	RGD:7240710	20130911	OMIM			
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:0110534	autosomal recessive nonsyndromic deafness 89		ISO	RGD:1345099	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 89 | ClinVar Annotator: match by term: Deafness, autosomal recessive 89	PMID:23768514|PMID:24033266|PMID:25741868|PMID:28492532
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:10579	leukodystrophy		ISO	RGD:1345099	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: leukodystrophy	PMID:25741868|PMID:28492532|PMID:28496994|PMID:33260297|PMID:34172899
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1345099	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:20920668|PMID:28492532
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:10907	microcephaly		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:1115	sarcoma		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:11446	sciatic neuropathy		IEP		D	RGD:12910554|PMID:25467976	20170620	RGD		mRNA,protein:decreased expression:dorsal root ganglion:	
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:1324	lung cancer		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Methylmalonic aciduria	
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345099	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease	
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:9000305	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS		ISO	RGD:1345099	D	RGD:7240710	20210414	OMIM			
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:9000305	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS		ISO	RGD:1345099	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness	PMID:23596069|PMID:25330800|PMID:25741868|PMID:26741492|PMID:27243033|PMID:28492532|PMID:30252186|PMID:30715177|PMID:32730690|PMID:33942428|PMID:34172899|PMID:34732400|PMID:36344503|PMID:37853563|PMID:38703036|PMID:38980148|PMID:39062730
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:9004489	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY		ISO	RGD:1345099	D	RGD:7240710	20210407	OMIM			
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:9004489	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY		ISO	RGD:1345099	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY | ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy	PMID:25741868|PMID:30311386
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1345099	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:28887846|PMID:30311386|PMID:31192300|PMID:32730690|PMID:34062854
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized myoclonic seizures	PMID:23596069|PMID:25741868|PMID:28492532|PMID:31192300|PMID:34172899
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1359653	Kars1	lysyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359654	Echdc1	ethylmalonyl-CoA decarboxylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359654	Echdc1	ethylmalonyl-CoA decarboxylase 1	gene	DOID:0080154	short chain acyl-CoA dehydrogenase deficiency		ISO	RGD:1346197	D	RGD:8554872	20210309	ClinVar		ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase	PMID:25741868
1359654	Echdc1	ethylmalonyl-CoA decarboxylase 1	gene	DOID:1909	melanoma		ISO	RGD:1346197	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1359654	Echdc1	ethylmalonyl-CoA decarboxylase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359654	Echdc1	ethylmalonyl-CoA decarboxylase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1359654	Echdc1	ethylmalonyl-CoA decarboxylase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1359654	Echdc1	ethylmalonyl-CoA decarboxylase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1346197	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1359654	Echdc1	ethylmalonyl-CoA decarboxylase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1359654	Echdc1	ethylmalonyl-CoA decarboxylase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1346197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359655	Slc16a4	solute carrier family 16, member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359655	Slc16a4	solute carrier family 16, member 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359655	Slc16a4	solute carrier family 16, member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1348929	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359655	Slc16a4	solute carrier family 16, member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359655	Slc16a4	solute carrier family 16, member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359655	Slc16a4	solute carrier family 16, member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359655	Slc16a4	solute carrier family 16, member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359656	Cptp	ceramide-1-phosphate transfer protein	gene	DOID:10534	stomach cancer		ISO	RGD:2289752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359656	Cptp	ceramide-1-phosphate transfer protein	gene	DOID:1115	sarcoma		ISO	RGD:2289752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359656	Cptp	ceramide-1-phosphate transfer protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2289752	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359656	Cptp	ceramide-1-phosphate transfer protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2289752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359656	Cptp	ceramide-1-phosphate transfer protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2289752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359657	Actrt2	actin-related protein T2	gene	DOID:9000058	Keloid		ISO	RGD:1606455	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0050677	Bjornstad syndrome		ISO	RGD:1347169	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0050677	Bjornstad syndrome		ISO	RGD:1347169	D	RGD:7240710	20130221	OMIM			
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0050677	Bjornstad syndrome		ISO	RGD:1347169	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BJORNSTAD SYNDROME | ClinVar Annotator: match by term: BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY | ClinVar Annotator: match by term: Bjornstad syndrome | ClinVar Annotator: match by term: Pili torti and nerve deafness | ClinVar Annotator: match by term: Pili torti-deafness syndrome	PMID:12910490|PMID:17314340|PMID:17403714|PMID:19508421|PMID:22310368|PMID:24033266|PMID:25741868|PMID:26489029|PMID:28128857|PMID:28322498|PMID:28492532|PMID:28496993|PMID:30311386|PMID:31435670|PMID:33511646|PMID:34662929|PMID:38465286
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1347169	D	RGD:7240710	20130221	OMIM			
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1347169	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BCS1L-related disorder | ClinVar Annotator: match by term: Decreased activity of mitochondrial complex III | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1	PMID:11528392|PMID:12910490|PMID:17314340|PMID:17403714|PMID:19508421|PMID:20518024|PMID:22310368|PMID:22991165|PMID:23892085|PMID:24033266|PMID:24655110|PMID:25741868|PMID:28322498|PMID:28427446|PMID:28492532|PMID:29090881|PMID:30582773|PMID:31435670|PMID:32313153|PMID:34662929|PMID:38465286|PMID:38703036
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISS	RGD:1553825	D	RGD:13592920	20230718	MouseDO		OMIM:124000	
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0111139	mitochondrial complex III deficiency		ISO	RGD:1347169	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex III deficiency	PMID:17314340|PMID:17403714|PMID:22310368|PMID:24033266|PMID:25741868|PMID:28492532|PMID:38465286
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0111455	GRACILE syndrome		ISO	RGD:1347169	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0111455	GRACILE syndrome		ISO	RGD:1347169	D	RGD:7240710	20130221	OMIM			
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0111455	GRACILE syndrome		ISO	RGD:1347169	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FINNISH LETHAL NEONATAL METABOLIC SYNDROME | ClinVar Annotator: match by term: Finnish lethal neonatal metabolic syndrome | ClinVar Annotator: match by term: GRACILE syndrome	PMID:12215968|PMID:12547234|PMID:12910490|PMID:16199547|PMID:17314340|PMID:17403714|PMID:18386115|PMID:19162478|PMID:19285991|PMID:19389488|PMID:19508421|PMID:20727375|PMID:21274865|PMID:22277166|PMID:22277967|PMID:22310368|PMID:22829922|PMID:24033266|PMID:24236502|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:25954003|PMID:26489029|PMID:27618451|PMID:27959697|PMID:28105683|PMID:28128857|PMID:28322498|PMID:28427446|PMID:28490743|PMID:28492532|PMID:28496993|PMID:30582773|PMID:30634555|PMID:31435670|PMID:31683770|PMID:32552793|PMID:32581362|PMID:32637629|PMID:33511646|PMID:33920624|PMID:34645488|PMID:34650211|PMID:34662929|PMID:38039045|PMID:38465286|PMID:38703036|PMID:39992606
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0111455	GRACILE syndrome		ISS	RGD:1553825	D	RGD:13592920	20230718	MouseDO		OMIM:603358	
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:1059	intellectual disability		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:31316545|PMID:32581362|PMID:37541188
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:1826	epilepsy		ISO	RGD:1347169	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:3652	Leigh disease		ISO	RGD:1347169	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease	PMID:17314340|PMID:19389488|PMID:24033266|PMID:24172246|PMID:25741868|PMID:25895478|PMID:25914718|PMID:28492532|PMID:33176815|PMID:34662929
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:4362	cervical cancer		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:440	neuromuscular disease		ISO	RGD:1347169	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease | ClinVar Annotator: match by term: Neuromuscular disorder	PMID:25741868
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:630	genetic disease		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11528392|PMID:17314340|PMID:20518024|PMID:24655110|PMID:25741868|PMID:28492532|PMID:29090881
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:9007653	Multiple Abnormalities	susceptibility	ISO	RGD:1347169	D	RGD:1600515|PMID:11528392	20070312	RGD		DNA:mutations: ; mitochondrial complex III deficiency, OMIM:124000	
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:9256	colorectal cancer		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1359658	Bcs1l	BCS1 ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:936	brain disease		ISO	RGD:1347169	D	RGD:8554872	20230502	ClinVar		ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868
1359660	Icam2	intercellular adhesion molecule 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359660	Icam2	intercellular adhesion molecule 2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1351795	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:23056237
1359660	Icam2	intercellular adhesion molecule 2	gene	DOID:1909	melanoma		ISO	RGD:1351795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359660	Icam2	intercellular adhesion molecule 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359660	Icam2	intercellular adhesion molecule 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1351795	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
1359660	Icam2	intercellular adhesion molecule 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351795	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359660	Icam2	intercellular adhesion molecule 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359660	Icam2	intercellular adhesion molecule 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359661	Shisa5	shisa family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359661	Shisa5	shisa family member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359661	Shisa5	shisa family member 5	gene	DOID:1115	sarcoma		ISO	RGD:1602716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359661	Shisa5	shisa family member 5	gene	DOID:1909	melanoma		ISO	RGD:1602716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359661	Shisa5	shisa family member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1602716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359661	Shisa5	shisa family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359661	Shisa5	shisa family member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359663	C7h8orf82	similar to human chromosome 8 open reading frame 82	gene	DOID:10534	stomach cancer		ISO	RGD:1606363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359663	C7h8orf82	similar to human chromosome 8 open reading frame 82	gene	DOID:3275	thymoma		ISO	RGD:1606363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359663	C7h8orf82	similar to human chromosome 8 open reading frame 82	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359664	Krt1	keratin 1	gene	DOID:0050428	nonepidermolytic palmoplantar keratoderma		ISO	RGD:1346930	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359664	Krt1	keratin 1	gene	DOID:0050428	nonepidermolytic palmoplantar keratoderma		ISO	RGD:1346930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse nonepidermolytic palmoplantar keratoderma | ClinVar Annotator: match by term: Nonepidermolytic palmoplantar keratoderma | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC	PMID:19470048|PMID:25741868|PMID:28492532
1359664	Krt1	keratin 1	gene	DOID:0060877	bullous congenital ichthyosiform erythroderma		ISO	RGD:1346930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA | ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma	PMID:16361731|PMID:17101470|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30288772
1359664	Krt1	keratin 1	gene	DOID:0070550	KRT1-related nonepidermolytic palmoplantar keratoderma		ISO	RGD:1346930	D	RGD:7240710	20240703	OMIM			
1359664	Krt1	keratin 1	gene	DOID:0070551	epidermolytic palmoplantar keratoderma 2		ISO	RGD:1346930	D	RGD:7240710	20230614	OMIM			
1359664	Krt1	keratin 1	gene	DOID:0070551	epidermolytic palmoplantar keratoderma 2		ISO	RGD:1346930	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, 2	PMID:11286630|PMID:16227096|PMID:25741868|PMID:28492532|PMID:33081034|PMID:37122192
1359664	Krt1	keratin 1	gene	DOID:0070552	epidermolytic palmoplantar keratoderma 1		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma, 1	PMID:25741868
1359664	Krt1	keratin 1	gene	DOID:0080223	epidermolytic palmoplantar keratoderma		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic	PMID:25741868
1359664	Krt1	keratin 1	gene	DOID:0081110	keratosis palmoplantaris striata 3		ISO	RGD:1346930	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359664	Krt1	keratin 1	gene	DOID:0081110	keratosis palmoplantaris striata 3		ISO	RGD:1346930	D	RGD:7240710	20130221	OMIM			
1359664	Krt1	keratin 1	gene	DOID:0081110	keratosis palmoplantaris striata 3		ISO	RGD:1346930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STRIATE PALMOPLANTAR KERATODERMA III	PMID:25741868
1359664	Krt1	keratin 1	gene	DOID:0081358	epidermolytic hyperkeratosis 1		ISO	RGD:1346930	D	RGD:7240710	20230517	OMIM			
1359664	Krt1	keratin 1	gene	DOID:0081358	epidermolytic hyperkeratosis 1		ISO	RGD:1346930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYTIC HYPERKERATOSIS 1 | ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 1	PMID:10232403|PMID:12406348|PMID:1284546|PMID:1381288|PMID:16361731|PMID:17101470|PMID:22930352|PMID:25741868|PMID:26467025|PMID:26581228|PMID:28492532|PMID:30288772|PMID:33363884|PMID:7512983
1359664	Krt1	keratin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1346930	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1359664	Krt1	keratin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1346930	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1359664	Krt1	keratin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359664	Krt1	keratin 1	gene	DOID:161	keratosis		ISO	RGD:1346930	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35363433
1359664	Krt1	keratin 1	gene	DOID:1697	ichthyosis		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:25741868|PMID:28492532
1359664	Krt1	keratin 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1346930	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
1359664	Krt1	keratin 1	gene	DOID:3275	thymoma		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359664	Krt1	keratin 1	gene	DOID:4603	epidermolytic hyperkeratosis		ISO	RGD:1346930	D	RGD:11554173	20230523	CTD		CTD Direct Evidence: marker/mechanism	
1359664	Krt1	keratin 1	gene	DOID:4603	epidermolytic hyperkeratosis		ISO	RGD:1346930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA | ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma | ClinVar Annotator: match by term: Epidermolytic ichthyosis	PMID:16361731|PMID:17101470|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30288772
1359664	Krt1	keratin 1	gene	DOID:4603	epidermolytic hyperkeratosis		ISS	RGD:1551889	D	RGD:13592920	20230718	MouseDO			
1359664	Krt1	keratin 1	gene	DOID:4603	epidermolytic hyperkeratosis	susceptibility	ISO	RGD:1346930	D	RGD:1600166|PMID:11286616	20070301	RGD		DNA:mutation: ; 5191/5192GG>A	
1359664	Krt1	keratin 1	gene	DOID:630	genetic disease		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1359664	Krt1	keratin 1	gene	DOID:9002744	Ichthyosis Hystrix, Curth Macklin Type		ISO	RGD:1346930	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359664	Krt1	keratin 1	gene	DOID:9002744	Ichthyosis Hystrix, Curth Macklin Type		ISO	RGD:1346930	D	RGD:7240710	20130221	OMIM			
1359664	Krt1	keratin 1	gene	DOID:9002744	Ichthyosis Hystrix, Curth Macklin Type		ISO	RGD:1346930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE | ClinVar Annotator: match by term: Ichthyosis hystrix of Curth-Macklin	PMID:25741868
1359664	Krt1	keratin 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1346930	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
1359664	Krt1	keratin 1	gene	DOID:9004887	Annular Epidermolytic Ichthyosis 1		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic 1	PMID:14708600|PMID:25741868|PMID:31046801|PMID:8751983
1359664	Krt1	keratin 1	gene	DOID:9005778	Annular Epidermolytic Ichthyosis		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Annular epidermolytic ichthyosis	PMID:25741868
1359664	Krt1	keratin 1	gene	DOID:9006224	Reticular Erythrokeratoderma		ISO	RGD:1346930	D	RGD:8554872	20180807	ClinVar		ClinVar Annotator: match by term: Ichthyosis with confetti	PMID:25774499
1359664	Krt1	keratin 1	gene	DOID:9006935	Annular Epidermolytic Ichthyosis 2		ISO	RGD:1346930	D	RGD:7240710	20221214	OMIM			
1359664	Krt1	keratin 1	gene	DOID:9006935	Annular Epidermolytic Ichthyosis 2		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2	PMID:10053007|PMID:15214894|PMID:22250628|PMID:25741868|PMID:28492532|PMID:30152556
1359664	Krt1	keratin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359665	Mrpl11	mitochondrial ribosomal protein L11	gene	DOID:1324	lung cancer		ISO	RGD:1347202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359665	Mrpl11	mitochondrial ribosomal protein L11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359665	Mrpl11	mitochondrial ribosomal protein L11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359665	Mrpl11	mitochondrial ribosomal protein L11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359666	Ccdc82	coiled-coil domain containing 82	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359666	Ccdc82	coiled-coil domain containing 82	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1602861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868|PMID:28397838|PMID:35118659|PMID:37012327
1359666	Ccdc82	coiled-coil domain containing 82	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359666	Ccdc82	coiled-coil domain containing 82	gene	DOID:0060058	lymphoma		ISO	RGD:1602861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359666	Ccdc82	coiled-coil domain containing 82	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1602861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
1359666	Ccdc82	coiled-coil domain containing 82	gene	DOID:10534	stomach cancer		ISO	RGD:1602861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28397838|PMID:35118659|PMID:37012327
1359666	Ccdc82	coiled-coil domain containing 82	gene	DOID:1059	intellectual disability		ISO	RGD:1602861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
1359666	Ccdc82	coiled-coil domain containing 82	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359666	Ccdc82	coiled-coil domain containing 82	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359666	Ccdc82	coiled-coil domain containing 82	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359666	Ccdc82	coiled-coil domain containing 82	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359666	Ccdc82	coiled-coil domain containing 82	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359666	Ccdc82	coiled-coil domain containing 82	gene	DOID:9256	colorectal cancer		ISO	RGD:1602861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359666	Ccdc82	coiled-coil domain containing 82	gene	DOID:93	language disorder		ISO	RGD:1602861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:0060058	lymphoma		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1350002	D	RGD:1556706|PMID:11349233	20120702	RGD		DNA:point mutations, deletions:cds:multiple (human)	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1350002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:25741868|PMID:28492532
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:0112068	nuclear type mitochondrial complex I deficiency 5		ISO	RGD:1350002	D	RGD:7240710	20190315	OMIM			
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:0112068	nuclear type mitochondrial complex I deficiency 5		ISO	RGD:1350002	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 5 | ClinVar Annotator: match by term: NDUFS1-related condition	PMID:11349233|PMID:16199547|PMID:17576681|PMID:20382551|PMID:20819849|PMID:21203893|PMID:22142868|PMID:22200994|PMID:22310368|PMID:22972949|PMID:25615419|PMID:25741868|PMID:28492532|PMID:31589614|PMID:33547378|PMID:34716721|PMID:36042640|PMID:36918699|PMID:38129218|PMID:38703036|PMID:39118480|PMID:9536098
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1350002	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:11349233|PMID:22200994|PMID:25741868|PMID:28492532|PMID:31178897
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:10534	stomach cancer		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:1115	sarcoma		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1350002	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9527842
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:1324	lung cancer		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:14330	Parkinson's disease	onset	ISO	RGD:1551403	D	RGD:6484690|PMID:21196577	20120629	RGD		protein:increased oxidation:brain, mitochondrion (mouse)	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:1485	cystic fibrosis		ISO	RGD:1551403	D	RGD:6484688|PMID:21518732	20120629	RGD		protein:increased oxidation:colonic epithelium, mitochondrion (mouse)	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:1826	epilepsy		ISO	RGD:1350002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:3275	thymoma		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:3652	Leigh disease		ISO	RGD:1350002	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy	PMID:25741868|PMID:28492532
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:4362	cervical cancer		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350002	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:630	genetic disease		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:37273706
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1350002	D	RGD:1556706|PMID:11349233	20070315	RGD		mitochondrial complex I deficiency, OMIM:252010, deletion:664delCAT, point mutation:D252G	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1350002	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:25741868
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:7319	axonal neuropathy		ISO	RGD:1350002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Motor axonal neuropathy	PMID:25741868|PMID:28492532
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1350002	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9000918	Disease Progression		ISO	RGD:1350002	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9004866	Ataxia		ISO	RGD:1350002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:11349233|PMID:16199547|PMID:22200994|PMID:25741868|PMID:28492532
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9007385	Mitochondrial Encephalopathy		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial encephalopathy	PMID:22499341
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	IDA		D	RGD:13801200|PMID:21700931	20181105	RGD			
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9256	colorectal cancer		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1359670	Ndufs1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1350002	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:22200994|PMID:25741868|PMID:28492532
1359671	Dctd	dCMP deaminase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359671	Dctd	dCMP deaminase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359671	Dctd	dCMP deaminase	gene	DOID:1324	lung cancer		ISO	RGD:1349899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359671	Dctd	dCMP deaminase	gene	DOID:4362	cervical cancer		ISO	RGD:1349899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359671	Dctd	dCMP deaminase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359671	Dctd	dCMP deaminase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348814	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:0060058	lymphoma		ISO	RGD:1348814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:10534	stomach cancer		ISO	RGD:1348814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348814	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:1115	sarcoma		ISO	RGD:1348814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:1324	lung cancer		ISO	RGD:1348814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:1909	melanoma		ISO	RGD:1348814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:4362	cervical cancer		ISO	RGD:1348814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1348814	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359672	Slc12a7	solute carrier family 12 member 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:0070374	leukoencephalopathy with vanishing white matter 1		ISO	RGD:1343816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1	PMID:25741868
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:0112055	non-syndromic X-linked intellectual disability 46		ISO	RGD:1343816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, X-linked 46	PMID:25741868|PMID:28492532
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:1059	intellectual disability		ISO	RGD:1343816	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:1059	intellectual disability	susceptibility	ISO	RGD:1343816	D	RGD:1599214|PMID:11017088	20070119	RGD			
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:12849	autistic disorder		ISO	RGD:1343816	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:12849	autistic disorder		ISO	RGD:1343816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:1909	melanoma		ISO	RGD:1343816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:3275	thymoma		ISO	RGD:1343816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:4362	cervical cancer		ISO	RGD:1343816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343816	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: ARHGEF6-associated Neurodevelopmental disorder | ClinVar Annotator: match by term: ARHGEF6-related condition	PMID:11017088|PMID:18414213|PMID:25741868|PMID:28492532
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343816	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARHGEF6-associated Neurodevelopmental disorder | ClinVar Annotator: match by term: ARHGEF6-related condition	PMID:18414213|PMID:25741868|PMID:28492532
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359674	Arhgef6	Rac/Cdc42 guanine nucleotide exchange factor 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1343816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1359675	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359675	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:10534	stomach cancer		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359675	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:1324	lung cancer		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359675	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:1909	melanoma		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359675	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359675	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:4362	cervical cancer		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359675	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359675	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359675	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359675	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1359675	Mrps15	mitochondrial ribosomal protein S15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359677	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:1115	sarcoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359677	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:1909	melanoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359677	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359677	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:3275	thymoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359677	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:5041	esophageal cancer		ISO	RGD:1348292	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359677	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359677	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359677	Dnajb12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:0050460	Wolf-Hirschhorn syndrome		ISO	RGD:1352340	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14706454
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1352340	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14706454
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:11832	visual epilepsy		ISO	RGD:1352340	D	RGD:11554173	20260106	CTD		CTD Direct Evidence: marker/mechanism	PMID:14706454
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic neuropathy	PMID:25741868|PMID:28492532
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:1909	melanoma		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:3650	lactic acidosis		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:423	myopathy		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:630	genetic disease		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352340	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:23392203
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352340	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14706454
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9005834	Ependymomas		ISO	RGD:1352340	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9007578	LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LETM1-associated clinical spectrum with predominant nervous system involvement	PMID:25741868
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9007987	NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION		ISO	RGD:1352340	D	RGD:7240710	20221214	OMIM			
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9007987	NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LETM1-related condition | ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction	PMID:25741868|PMID:28492532
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1352340	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14706454
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1359678	Letm1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diabetes	
1359679	Lefty2	Left-right determination factor 2	gene	DOID:9001573	Experimental Liver Cirrhosis	ameliorates	ISO	RGD:1552893	D	RGD:401794438|PMID:34887753	20230828	RGD			
1359679	Lefty2	Left-right determination factor 2	gene	DOID:9007456	Female Infertility		ISO	RGD:1348079	D	RGD:1598793|PMID:10902804	20061219	RGD			
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1343459	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:32403198
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:3275	thymoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:423	myopathy		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:32403198
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:440	neuromuscular disease		ISO	RGD:1343459	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868|PMID:35869884
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868|PMID:32403198
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:9002092	Tubular Aggregate Myopathies		ISO	RGD:1343459	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Myopathy with tubular aggregates	PMID:25741868|PMID:32403198
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:9006229	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME		ISO	RGD:1343459	D	RGD:7240710	20211027	OMIM			
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:9006229	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME		ISO	RGD:1343459	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME | ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	PMID:25741868|PMID:32403198
1359680	Ggps1	geranylgeranyl diphosphate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359681	Ifit3	interferon-induced protein with tetratricopeptide repeats 3	gene	DOID:0080600	COVID-19		ISO	RGD:1353716	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1359681	Ifit3	interferon-induced protein with tetratricopeptide repeats 3	gene	DOID:6000	congestive heart failure		ISO	RGD:1353716	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
1359681	Ifit3	interferon-induced protein with tetratricopeptide repeats 3	gene	DOID:9001488	Human Influenza		ISO	RGD:1353716	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1359681	Ifit3	interferon-induced protein with tetratricopeptide repeats 3	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1353716	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
1359682	Abhd17a	abhydrolase domain containing 17A, depalmitoylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359682	Abhd17a	abhydrolase domain containing 17A, depalmitoylase	gene	DOID:1909	melanoma		ISO	RGD:1347246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359682	Abhd17a	abhydrolase domain containing 17A, depalmitoylase	gene	DOID:4362	cervical cancer		ISO	RGD:1347246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359682	Abhd17a	abhydrolase domain containing 17A, depalmitoylase	gene	DOID:5041	esophageal cancer		ISO	RGD:1347246	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359682	Abhd17a	abhydrolase domain containing 17A, depalmitoylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:0040084	Streptococcus pneumonia		ISO	RGD:1551411	D	RGD:124715473|PMID:30873567	20210325	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:0050746	mantle cell lymphoma	treatment	ISO	RGD:1342660	D	RGD:11040699|PMID:23045577	20160314	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:0050866	oral squamous cell carcinoma	treatment	ISO	RGD:1342660	D	RGD:9068941	20220204	RGD		mRNA:increased expression:oral epithelium (human)	PMID:33640903|REF_RGD_ID:151347851
1359683	Btk	Bruton tyrosine kinase	gene	DOID:0060180	colitis	ameliorates	ISO	RGD:1551411	D	RGD:124713568|PMID:25379804	20210325	RGD		Associated with candidiasis	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:0060875	isolated growth hormone deficiency type III		ISO	RGD:1342660	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:0060875	isolated growth hormone deficiency type III		ISO	RGD:1342660	D	RGD:7240710	20130221	OMIM			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:0060875	isolated growth hormone deficiency type III		ISO	RGD:1342660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BTK-related condition | ClinVar Annotator: match by term: Fleisher syndrome | ClinVar Annotator: match by term: Growth hormone deficiency with hypogammaglobulinemia | ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency	PMID:10196129|PMID:10373551|PMID:10612838|PMID:10737994|PMID:10754312|PMID:10844531|PMID:10859027|PMID:10887125|PMID:11027452|PMID:11102316|PMID:11102984|PMID:11206059|PMID:11438999|PMID:11472359|PMID:11555397|PMID:11564824|PMID:11668622|PMID:11742281|PMID:11892085|PMID:12204007|PMID:12217331|PMID:1240516|PMID:12405164|PMID:12655572|PMID:12768435|PMID:14974089|PMID:15024743|PMID:15082835|PMID:15358621|PMID:15661031|PMID:15661032|PMID:15821893|PMID:16159644|PMID:16199547|PMID:16297664|PMID:16712653|PMID:16729790|PMID:16862044|PMID:16913189|PMID:16943681|PMID:17045652|PMID:17576681|PMID:17765309|PMID:18518992|PMID:18677443|PMID:1880652|PMID:19039656|PMID:19302039|PMID:19419768|PMID:19763152|PMID:19904586|PMID:20307669|PMID:20529312|PMID:20721470|PMID:20723125|PMID:21039741|PMID:21397315|PMID:21520333|PMID:22378381|PMID:22406018|PMID:23335184|PMID:23424595|PMID:24001798|PMID:24033266|PMID:24477949|PMID:24586880|PMID:24658450|PMID:24885015|PMID:25270678|PMID:25316352|PMID:25640679|PMID:25741868|PMID:25777788|PMID:26931785|PMID:26960951|PMID:27512878|PMID:27535475|PMID:27593100|PMID:27980540|PMID:28236219|PMID:28359783|PMID:28492532|PMID:29202590|PMID:29424453|PMID:29658452|PMID:29709555|PMID:29921932|PMID:30072168|PMID:30240888|PMID:30290665|PMID:30311057|PMID:30564228|PMID:30619340|PMID:30697212|PMID:30882382|PMID:31967259|PMID:32009323|PMID:32067425|PMID:32117230|PMID:32169379|PMID:32441320|PMID:32477911|PMID:32552675|PMID:32888943|PMID:33013854|PMID:33224144|PMID:33225392|PMID:33377626|PMID:33584693|PMID:33815962|PMID:34182127|PMID:34262886|PMID:3486747|PMID:35382780|PMID:35482138|PMID:36790564|PMID:38046560|PMID:7627183|PMID:7633420|PMID:7633429|PMID:7711734|PMID:7849697|PMID:7849721|PMID:7880320|PMID:7897635|PMID:8013627|PMID:8090769|PMID:8162018|PMID:8162056|PMID:8332900|PMID:8332901|PMID:8562928|PMID:8594569|PMID:8644706|PMID:8695804|PMID:8723128|PMID:8834236|PMID:8851194|PMID:8938104|PMID:8939985|PMID:9106525|PMID:9143921|PMID:9192269|PMID:9260159|PMID:9280283|PMID:9445504|PMID:9536098|PMID:9545398
1359683	Btk	Bruton tyrosine kinase	gene	DOID:0080600	COVID-19		ISO	RGD:1342660	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:32503877
1359683	Btk	Bruton tyrosine kinase	gene	DOID:0080600	COVID-19		ISO	RGD:1342660	D	RGD:124713553|PMID:32503877	20210322	RGD		protein:increased phosphorylation:blood, monocyte (human)	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:0081136	agammaglobulinemia 1		ISO	RGD:1342660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT | ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1	PMID:11668622|PMID:15661032|PMID:16862044|PMID:19039656|PMID:19419768|PMID:19904586|PMID:25741868|PMID:27512878|PMID:28492532|PMID:30072168|PMID:7849721|PMID:7880320|PMID:8695804|PMID:8939985|PMID:9143921
1359683	Btk	Bruton tyrosine kinase	gene	DOID:11573	listeriosis	ameliorates	ISO	RGD:1551411	D	RGD:124713555|PMID:23544144	20210322	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:12053	cryptococcosis	exacerbates	ISO	RGD:1551411	D	RGD:124715476|PMID:23820392	20210325	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:13317	hyperinsulinemic hypoglycemia		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia	PMID:11438999|PMID:15661032|PMID:16199547|PMID:16862044|PMID:17765309|PMID:19419768|PMID:20723125|PMID:25741868|PMID:28492532|PMID:8090769
1359683	Btk	Bruton tyrosine kinase	gene	DOID:14179	X-linked agammaglobulinemia		ISO	RGD:1342660	D	RGD:11040588|PMID:15024743	20160311	RGD		DNA:mutations:exon, intron:multiple	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:14179	X-linked agammaglobulinemia		ISO	RGD:1342660	D	RGD:11040698|PMID:12655572	20160314	RGD		DNA:mutations:exon, intron:multiple	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:14179	X-linked agammaglobulinemia		ISO	RGD:1342660	D	RGD:11554173	20260602	CTD		CTD Direct Evidence: marker/mechanism	PMID:41033468
1359683	Btk	Bruton tyrosine kinase	gene	DOID:14179	X-linked agammaglobulinemia		ISO	RGD:1342660	D	RGD:7240710	20130221	OMIM			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:14179	X-linked agammaglobulinemia		ISO	RGD:1342660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, X-LINKED | ClinVar Annotator: match by term: Agammaglobulinemia, X-Linked | ClinVar Annotator: match by term: Bruton-type agammaglobulinemia | ClinVar Annotator: match by term: X-linked Agammaglobulinemia | ClinVar Annotator: match by term: X-linked agammaglobulinemia	PMID:10092645|PMID:10678660|PMID:10737994|PMID:10754312|PMID:10844531|PMID:10887125|PMID:11102984|PMID:11206059|PMID:11410123|PMID:11438999|PMID:11472359|PMID:11527964|PMID:11555397|PMID:11668622|PMID:11742281|PMID:11809909|PMID:12204007|PMID:12217331|PMID:12405164|PMID:12655572|PMID:14974089|PMID:15661032|PMID:15821893|PMID:16053733|PMID:16160918|PMID:16199547|PMID:16712653|PMID:16751014|PMID:16862044|PMID:16913189|PMID:16943681|PMID:16951917|PMID:17045652|PMID:17164954|PMID:17327079|PMID:17765309|PMID:18518992|PMID:18677443|PMID:19039656|PMID:19419768|PMID:19904586|PMID:20301626|PMID:20529312|PMID:20723125|PMID:21397315|PMID:23335184|PMID:23424595|PMID:24383975|PMID:24820629|PMID:24885015|PMID:25142992|PMID:25525159|PMID:25741868|PMID:25777788|PMID:26931785|PMID:26981933|PMID:27512878|PMID:27577878|PMID:27980540|PMID:28492532|PMID:29424453|PMID:29503650|PMID:30072168|PMID:30240888|PMID:30564228|PMID:30627929|PMID:31803177|PMID:32009323|PMID:32067425|PMID:32552675|PMID:32888943|PMID:33042921|PMID:33471103|PMID:33815962|PMID:34029777|PMID:34182127|PMID:34975878|PMID:35729272|PMID:40225173|PMID:7554467|PMID:7633420|PMID:7633429|PMID:7711734|PMID:7809124|PMID:7849697|PMID:7849721|PMID:7880320|PMID:8090769|PMID:8162056|PMID:8164701|PMID:8380905|PMID:8594569|PMID:8644706|PMID:8695804|PMID:8938104|PMID:8939985|PMID:9143921|PMID:9188445|PMID:9445504|PMID:9524120|PMID:9545398|PMID:9880544
1359683	Btk	Bruton tyrosine kinase	gene	DOID:14179	X-linked agammaglobulinemia		ISS	RGD:1551411	D	RGD:13592920	20230718	MouseDO		OMIM:300755	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:14179	X-linked agammaglobulinemia	ameliorates	ISO	RGD:1342660	D	RGD:124713551|PMID:15142874	20210322	RGD		human gene in a mouse model	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:14179	X-linked agammaglobulinemia	ameliorates	ISO	RGD:1342660	D	RGD:124715475|PMID:20574453	20210325	RGD		Human gene in mouse model	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336|PMID:9486400
1359683	Btk	Bruton tyrosine kinase	gene	DOID:1556	arthus reaction	treatment	IMP		D	RGD:11040701|PMID:22228807	20160314	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342660	D	RGD:9068941	20220204	RGD		mRNA:decreased expression:colon (human)	PMID:31402962|REF_RGD_ID:151347853
1359683	Btk	Bruton tyrosine kinase	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1342660	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:15142874
1359683	Btk	Bruton tyrosine kinase	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Agammaglobulinemia	PMID:11438999|PMID:15661032|PMID:16199547|PMID:16862044|PMID:17765309|PMID:19419768|PMID:20723125|PMID:25741868|PMID:28492532|PMID:8090769
1359683	Btk	Bruton tyrosine kinase	gene	DOID:2583	agammaglobulinemia	susceptibility	ISO	RGD:1342660	D	RGD:1600526|PMID:8162018	20070312	RGD		DNA:insertions, point mutations	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:288	endometriosis of uterus	disease_progression	ISO	RGD:1551411	D	RGD:124715471|PMID:31247078	20210325	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:3234	central nervous system lymphoma	ameliorates	ISO	RGD:1342660	D	RGD:124715478|PMID:28552327	20210325	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1342660	D	RGD:9068941	20220204	RGD		mRNA:increased expression:lung (human)	PMID:32623229|REF_RGD_ID:151347854
1359683	Btk	Bruton tyrosine kinase	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1342660	D	RGD:151347848|PMID:32351880	20220204	RGD		mRNA:decreased expression:lung (human)	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1342660	D	RGD:9068941	20220204	RGD		mRNA:decreased expression:lung (human)	PMID:31803536|REF_RGD_ID:151347849
1359683	Btk	Bruton tyrosine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1342660	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:11809909|PMID:12405164|PMID:15661032|PMID:16862044|PMID:17576681|PMID:19419768|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:7627183|PMID:7849697|PMID:9536098|PMID:9545398
1359683	Btk	Bruton tyrosine kinase	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1551411	D	RGD:11040700|PMID:8332901	20160314	RGD		DNA:missense mutation:CDS:p.R28C (mouse)	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:630	genetic disease		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1359683	Btk	Bruton tyrosine kinase	gene	DOID:707	B-cell lymphoma	treatment	ISO	RGD:1342660	D	RGD:124713554|PMID:28348046	20210322	RGD		human cell in a mouse model	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:707	B-cell lymphoma	treatment	ISO	RGD:1551411	D	RGD:11040764|PMID:25662332	20160315	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:8584	Burkitt lymphoma	ameliorates	ISO	RGD:1342660	D	RGD:124715474|PMID:30546948	20210325	RGD		Human cell line in a mouse model	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:8584	Burkitt lymphoma	treatment	ISO	RGD:1342660	D	RGD:9068941	20210326	RGD		mRNA:increased expression:multiple (human)	PMID:28474336|REF_RGD_ID:124713565
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1342660	D	RGD:151347847|PMID:31200752	20220204	RGD		associated with lung adenocarcinoma;protein:increased expression:lung (human)	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9000371	influenza A	ameliorates	ISO	RGD:1551411	D	RGD:124713566|PMID:29516781	20210323	RGD		Associated with Acute Lung Injury	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9000873	Adenoviridae Infections	susceptibility	ISO	RGD:1551411	D	RGD:124713567|PMID:15140955	20210323	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9002106	Pneumococcal Pneumonia	ameliorates	ISO	RGD:1551411	D	RGD:124715470|PMID:30646846	20210325	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	treatment	ISO	RGD:1342660	D	RGD:11040699|PMID:23045577	20160314	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9002395	Hypothermia	exacerbates	ISO	RGD:1551411	D	RGD:11533169|PMID:26581914	20210322	RGD		Associated with Endotoxemia; with Itk knockout	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9002457	Experimental Arthritis	treatment	IMP		D	RGD:11040701|PMID:22228807	20160314	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9002457	Experimental Arthritis	treatment	IMP		D	RGD:151665122|PMID:32083858	20220311	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9004143	X-Linked Hypogammaglobulinemia		ISO	RGD:1342660	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA, X-LINKED	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:11438999|PMID:15661032|PMID:16199547|PMID:16862044|PMID:17765309|PMID:19419768|PMID:20723125|PMID:25741868|PMID:28492532|PMID:8090769
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9006549	Enterovirus Infections	treatment	ISO	RGD:1551411	D	RGD:124715472|PMID:10508272	20210325	RGD		Associated with X-linked agammaglobulinemia	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:12768435|PMID:15661032|PMID:16199547|PMID:16862044|PMID:19419768|PMID:28492532
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9007278	Anaphylaxis	treatment	IMP		D	RGD:11040701|PMID:22228807	20160314	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9065	leishmaniasis	susceptibility	ISO	RGD:1551411	D	RGD:124715477|PMID:28783468	20210325	RGD			
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1342660	D	RGD:151347850|PMID:31518438	20220204	RGD		protein:increased expression:colorectum (human)	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1342660	D	RGD:151347852|PMID:31238520	20220204	RGD		protein:increased expression:colorectum (human)	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1342660	D	RGD:151347855|PMID:33096113	20260427	RGD		mRNA:decreased expression:nasopharynx	
1359683	Btk	Bruton tyrosine kinase	gene	DOID:9563	bronchiectasis		ISO	RGD:1342660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:11668622|PMID:19904586|PMID:25741868|PMID:28492532|PMID:8939985|PMID:9143921
1359685	Prickle3	prickle planar cell polarity protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359685	Prickle3	prickle planar cell polarity protein 3	gene	DOID:0060058	lymphoma		ISO	RGD:1350042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359685	Prickle3	prickle planar cell polarity protein 3	gene	DOID:0111754	Leber plus disease		ISS	RGD:1553854	D	RGD:13592920	20210415	MouseDO			
1359685	Prickle3	prickle planar cell polarity protein 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1350042	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1359685	Prickle3	prickle planar cell polarity protein 3	gene	DOID:1909	melanoma		ISO	RGD:1350042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359685	Prickle3	prickle planar cell polarity protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1350042	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359685	Prickle3	prickle planar cell polarity protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359685	Prickle3	prickle planar cell polarity protein 3	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:1350042	D	RGD:11554173	20220315	CTD		CTD Direct Evidence: marker/mechanism	
1359685	Prickle3	prickle planar cell polarity protein 3	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:1350042	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leber optic atrophy	
1359685	Prickle3	prickle planar cell polarity protein 3	gene	DOID:9004196	Leber Optic Atrophy, Susceptibility To		ISO	RGD:1350042	D	RGD:7240710	20220309	OMIM			
1359685	Prickle3	prickle planar cell polarity protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359685	Prickle3	prickle planar cell polarity protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359687	Fbxl6	F-box and leucine-rich repeat protein 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359687	Fbxl6	F-box and leucine-rich repeat protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359687	Fbxl6	F-box and leucine-rich repeat protein 6	gene	DOID:1115	sarcoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359687	Fbxl6	F-box and leucine-rich repeat protein 6	gene	DOID:1909	melanoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359687	Fbxl6	F-box and leucine-rich repeat protein 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359687	Fbxl6	F-box and leucine-rich repeat protein 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359687	Fbxl6	F-box and leucine-rich repeat protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359687	Fbxl6	F-box and leucine-rich repeat protein 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359687	Fbxl6	F-box and leucine-rich repeat protein 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359687	Fbxl6	F-box and leucine-rich repeat protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359687	Fbxl6	F-box and leucine-rich repeat protein 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1359687	Fbxl6	F-box and leucine-rich repeat protein 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359687	Fbxl6	F-box and leucine-rich repeat protein 6	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1359687	Fbxl6	F-box and leucine-rich repeat protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359688	Nipsnap3b	nipsnap homolog 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359688	Nipsnap3b	nipsnap homolog 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359688	Nipsnap3b	nipsnap homolog 3B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359688	Nipsnap3b	nipsnap homolog 3B	gene	DOID:1115	sarcoma		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359688	Nipsnap3b	nipsnap homolog 3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359688	Nipsnap3b	nipsnap homolog 3B	gene	DOID:3275	thymoma		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359688	Nipsnap3b	nipsnap homolog 3B	gene	DOID:4362	cervical cancer		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359688	Nipsnap3b	nipsnap homolog 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359688	Nipsnap3b	nipsnap homolog 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359689	Slc30a3	solute carrier family 30 member 3	gene	DOID:3070	high grade glioma		ISO	RGD:1346114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359689	Slc30a3	solute carrier family 30 member 3	gene	DOID:9003921	Zinc Deficiency		IEP		D	RGD:408427354|PMID:24634117	20241122	RGD			
1359689	Slc30a3	solute carrier family 30 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359689	Slc30a3	solute carrier family 30 member 3	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1346114	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Febrile Seizures	
1359690	Rnd3	Rho family GTPase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359690	Rnd3	Rho family GTPase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1351005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359690	Rnd3	Rho family GTPase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359690	Rnd3	Rho family GTPase 3	gene	DOID:1115	sarcoma		ISO	RGD:1351005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359690	Rnd3	Rho family GTPase 3	gene	DOID:1324	lung cancer		ISO	RGD:1351005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359690	Rnd3	Rho family GTPase 3	gene	DOID:1909	melanoma		ISO	RGD:1351005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359690	Rnd3	Rho family GTPase 3	gene	DOID:3070	high grade glioma		ISO	RGD:1351005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359690	Rnd3	Rho family GTPase 3	gene	DOID:3275	thymoma		ISO	RGD:1351005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359690	Rnd3	Rho family GTPase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359690	Rnd3	Rho family GTPase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351005	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1359690	Rnd3	Rho family GTPase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359691	Rflnb	refilin B	gene	DOID:13580	cholestasis		ISO	RGD:1601917	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
1359693	Rnf113a1	ring finger protein 113A1	gene	DOID:0111868	nonphotosensitive trichothiodystrophy 5		ISO	RGD:1344435	D	RGD:7240710	20170419	OMIM			
1359693	Rnf113a1	ring finger protein 113A1	gene	DOID:0111868	nonphotosensitive trichothiodystrophy 5		ISO	RGD:1344435	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RNF113A-related condition | ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE | ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive	PMID:25741868|PMID:28492532|PMID:29144457
1359694	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359694	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359694	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:0060058	lymphoma		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1359694	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:10534	stomach cancer		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359694	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359694	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359694	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359694	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359694	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:5041	esophageal cancer		ISO	RGD:1352228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359694	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359694	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:9004912	Hyperoxaluria		IEP		D	RGD:10040961|PMID:23091645	20150506	RGD		mRNA:increased expression:kidney (rat)	
1359694	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	IDA		D	RGD:10003160|PMID:20501665	20150505	RGD			
1359694	Rap1a	RAP1A, member of RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359696	Cldn18	claudin 18	gene	DOID:11372	megacolon		ISO	RGD:1351425	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
1359696	Cldn18	claudin 18	gene	DOID:2841	asthma		ISO	RGD:1351425	D	RGD:11554173	20210601	CTD		CTD Direct Evidence: marker/mechanism	PMID:27215490
1359696	Cldn18	claudin 18	gene	DOID:3275	thymoma		ISO	RGD:1351425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359696	Cldn18	claudin 18	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359696	Cldn18	claudin 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359696	Cldn18	claudin 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359697	Oas2	2'-5' oligoadenylate synthetase 2	gene	DOID:0081242	autoimmune interstitial lung, joint, and kidney disease		ISO	RGD:1348906	D	RGD:7240710	20260429	OMIM			
1359697	Oas2	2'-5' oligoadenylate synthetase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359697	Oas2	2'-5' oligoadenylate synthetase 2	gene	DOID:1324	lung cancer		ISO	RGD:1348906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359697	Oas2	2'-5' oligoadenylate synthetase 2	gene	DOID:1909	melanoma		ISO	RGD:1348906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359697	Oas2	2'-5' oligoadenylate synthetase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1348906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359697	Oas2	2'-5' oligoadenylate synthetase 2	gene	DOID:3275	thymoma		ISO	RGD:1348906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359697	Oas2	2'-5' oligoadenylate synthetase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359697	Oas2	2'-5' oligoadenylate synthetase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359697	Oas2	2'-5' oligoadenylate synthetase 2	gene	DOID:9001488	Human Influenza		ISO	RGD:1348906	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1359697	Oas2	2'-5' oligoadenylate synthetase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359697	Oas2	2'-5' oligoadenylate synthetase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359698	Rnf181	ring finger protein 181	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359698	Rnf181	ring finger protein 181	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359698	Rnf181	ring finger protein 181	gene	DOID:1115	sarcoma		ISO	RGD:1602715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359698	Rnf181	ring finger protein 181	gene	DOID:5041	esophageal cancer		ISO	RGD:1602715	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359698	Rnf181	ring finger protein 181	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359699	Trim42	tripartite motif-containing 42	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359699	Trim42	tripartite motif-containing 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359701	Krt32	keratin 32	gene	DOID:4362	cervical cancer		ISO	RGD:1313247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359701	Krt32	keratin 32	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1313247	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
1359702	Slc25a30	solute carrier family 25, member 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359702	Slc25a30	solute carrier family 25, member 30	gene	DOID:1115	sarcoma		ISO	RGD:1606937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359702	Slc25a30	solute carrier family 25, member 30	gene	DOID:4362	cervical cancer		ISO	RGD:1606937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359702	Slc25a30	solute carrier family 25, member 30	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359702	Slc25a30	solute carrier family 25, member 30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359702	Slc25a30	solute carrier family 25, member 30	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606937	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1359702	Slc25a30	solute carrier family 25, member 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359704	Ift74	intraflagellar transport 74	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1623977	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1359704	Ift74	intraflagellar transport 74	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:17576681|PMID:28492532|PMID:29068549|PMID:9536098
1359704	Ift74	intraflagellar transport 74	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1342560	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1359704	Ift74	intraflagellar transport 74	gene	DOID:0081011	Bardet-Biedl syndrome 22		ISO	RGD:1342560	D	RGD:7240710	20190315	OMIM			
1359704	Ift74	intraflagellar transport 74	gene	DOID:0081011	Bardet-Biedl syndrome 22		ISO	RGD:1342560	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 22 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 22	PMID:17576681|PMID:25741868|PMID:27486776|PMID:28492532|PMID:32144365|PMID:33531668|PMID:33748949|PMID:9536098
1359704	Ift74	intraflagellar transport 74	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1342560	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly	PMID:17576681|PMID:28492532|PMID:29068549|PMID:9536098
1359704	Ift74	intraflagellar transport 74	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:0112352	spermatogenic failure 58		ISO	RGD:1342560	D	RGD:7240710	20211110	OMIM			
1359704	Ift74	intraflagellar transport 74	gene	DOID:0112352	spermatogenic failure 58		ISO	RGD:1342560	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 58	PMID:25741868|PMID:28492532|PMID:33689014
1359704	Ift74	intraflagellar transport 74	gene	DOID:10534	stomach cancer		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:10907	microcephaly		ISO	RGD:1342560	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:1115	sarcoma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359704	Ift74	intraflagellar transport 74	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:11830	myopia		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:1596	depressive disorder		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:1909	melanoma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1342560	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868|PMID:28492532|PMID:33531668|PMID:34539760
1359704	Ift74	intraflagellar transport 74	gene	DOID:2030	anxiety disorder		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:2394	ovarian cancer		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359704	Ift74	intraflagellar transport 74	gene	DOID:2841	asthma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:3275	thymoma		ISO	RGD:1342560	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359704	Ift74	intraflagellar transport 74	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359704	Ift74	intraflagellar transport 74	gene	DOID:4362	cervical cancer		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:5041	esophageal cancer		ISO	RGD:1342560	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:5679	retinal disease		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
1359704	Ift74	intraflagellar transport 74	gene	DOID:5723	optic atrophy		ISO	RGD:1342560	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:630	genetic disease		ISO	RGD:1342560	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33531668|PMID:34539760
1359704	Ift74	intraflagellar transport 74	gene	DOID:8501	fundus dystrophy		ISO	RGD:1342560	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:9000733	Joubert Syndrome 40		ISO	RGD:1342560	D	RGD:7240710	20211110	OMIM			
1359704	Ift74	intraflagellar transport 74	gene	DOID:9000733	Joubert Syndrome 40		ISO	RGD:1342560	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 40 | ClinVar Annotator: match by term: Joubert syndrome 40	PMID:25741868|PMID:28492532|PMID:31690835|PMID:33531668|PMID:34539760
1359704	Ift74	intraflagellar transport 74	gene	DOID:9001733	Tinnitus		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:9003507	Premature Birth		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:17576681|PMID:28492532|PMID:29068549|PMID:9536098
1359704	Ift74	intraflagellar transport 74	gene	DOID:9005077	Joint Instability		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359704	Ift74	intraflagellar transport 74	gene	DOID:9008023	Memory Disorders		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359704	Ift74	intraflagellar transport 74	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16199547|PMID:28492532|PMID:33531668
1359704	Ift74	intraflagellar transport 74	gene	DOID:9256	colorectal cancer		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:9351	diabetes mellitus		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1359704	Ift74	intraflagellar transport 74	gene	DOID:9970	obesity		ISO	RGD:1342560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
1359705	Mtfp1	mitochondrial fission process 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359705	Mtfp1	mitochondrial fission process 1	gene	DOID:0060369	Parkinson's disease 6		ISO	RGD:1604816	D	RGD:12880394|PMID:19492057	20170505	RGD		mRNA:decreased expression:brain (mouse)	
1359705	Mtfp1	mitochondrial fission process 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604816	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359705	Mtfp1	mitochondrial fission process 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604816	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359705	Mtfp1	mitochondrial fission process 1	gene	DOID:769	neuroblastoma	severity	ISO	RGD:1604816	D	RGD:12880392|PMID:27765905	20170505	RGD		mRNA:increased expression:neural tissue (human)	
1359705	Mtfp1	mitochondrial fission process 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359706	Eomes	eomesodermin	gene	DOID:10534	stomach cancer		ISO	RGD:1353316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359706	Eomes	eomesodermin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353316	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
1359706	Eomes	eomesodermin	gene	DOID:2030	anxiety disorder		ISO	RGD:1353316	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26415720
1359706	Eomes	eomesodermin	gene	DOID:438	autoimmune disease of the nervous system		ISO	RGD:1353316	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27742544
1359706	Eomes	eomesodermin	gene	DOID:5041	esophageal cancer		ISO	RGD:1353316	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359706	Eomes	eomesodermin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359706	Eomes	eomesodermin	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1353316	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27539959
1359706	Eomes	eomesodermin	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor		ISO	RGD:1353316	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915428
1359706	Eomes	eomesodermin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359706	Eomes	eomesodermin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359708	Git2	GIT ArfGAP 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1345420	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:37156999
1359708	Git2	GIT ArfGAP 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359708	Git2	GIT ArfGAP 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359708	Git2	GIT ArfGAP 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359708	Git2	GIT ArfGAP 2	gene	DOID:1324	lung cancer		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359708	Git2	GIT ArfGAP 2	gene	DOID:1909	melanoma		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359708	Git2	GIT ArfGAP 2	gene	DOID:3275	thymoma		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359708	Git2	GIT ArfGAP 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359708	Git2	GIT ArfGAP 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359708	Git2	GIT ArfGAP 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1359708	Git2	GIT ArfGAP 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359708	Git2	GIT ArfGAP 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359708	Git2	GIT ArfGAP 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359708	Git2	GIT ArfGAP 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:1606240	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME	PMID:16199547|PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:27943079|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31664448|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorders	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:0060249	scoliosis		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:10579	leukodystrophy		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:1059	intellectual disability		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:10907	microcephaly		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:10965	spastic diplegia		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:1115	sarcoma		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28492532
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:12835	quadriplegia		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tetraplegia	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:12849	autistic disorder		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:13620	patent foramen ovale		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:1826	epilepsy		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:1969	cerebral palsy		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:3275	thymoma		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:535	sleep disorder		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:607	paraplegia		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:630	genetic disease		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:9001350	Aicardi-Goutieres Syndrome 1		ISO	RGD:1606240	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1	PMID:25741868
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:9003907	Aicardi-Goutieres Syndrome 2		ISO	RGD:1606240	D	RGD:7240710	20180111	OMIM			
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:9003907	Aicardi-Goutieres Syndrome 2		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aicardi Goutieres syndrome 2 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition	PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:24183309|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26846091|PMID:26860721|PMID:26903602|PMID:27009121|PMID:27943079|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:29720203|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31664448|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:32488064|PMID:33084218|PMID:33258288|PMID:33307271|PMID:33482855|PMID:33967934|PMID:34042169|PMID:35551623|PMID:36775013|PMID:37296061|PMID:39630935|PMID:42158309|PMID:9536098
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:9004248	Chilblains		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chilblains	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:9007661	Dwarfism		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359710	Rnaseh2b	ribonuclease H2, subunit B	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1606240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33307271|PMID:33967934|PMID:34042169|PMID:36775013|PMID:37296061|PMID:42158309
1359711	Clk2	CDC-like kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359711	Clk2	CDC-like kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359711	Clk2	CDC-like kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359711	Clk2	CDC-like kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359711	Clk2	CDC-like kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359711	Clk2	CDC-like kinase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1359711	Clk2	CDC-like kinase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1359711	Clk2	CDC-like kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359711	Clk2	CDC-like kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1359711	Clk2	CDC-like kinase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1359711	Clk2	CDC-like kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359711	Clk2	CDC-like kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359711	Clk2	CDC-like kinase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359713	Rbm47	RNA binding motif protein 47	gene	DOID:10534	stomach cancer		ISO	RGD:1642917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359713	Rbm47	RNA binding motif protein 47	gene	DOID:1115	sarcoma		ISO	RGD:1642917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359713	Rbm47	RNA binding motif protein 47	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1642917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1359713	Rbm47	RNA binding motif protein 47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1642917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359713	Rbm47	RNA binding motif protein 47	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1642917	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1359713	Rbm47	RNA binding motif protein 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1642917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359713	Rbm47	RNA binding motif protein 47	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1642917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359713	Rbm47	RNA binding motif protein 47	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1642917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359715	Slc13a4	solute carrier family 13 member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359715	Slc13a4	solute carrier family 13 member 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1345589	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1359715	Slc13a4	solute carrier family 13 member 4	gene	DOID:1324	lung cancer		ISO	RGD:1345589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359715	Slc13a4	solute carrier family 13 member 4	gene	DOID:1909	melanoma		ISO	RGD:1345589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359715	Slc13a4	solute carrier family 13 member 4	gene	DOID:5082	liver cirrhosis		ISO	RGD:1345589	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1359715	Slc13a4	solute carrier family 13 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359715	Slc13a4	solute carrier family 13 member 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359715	Slc13a4	solute carrier family 13 member 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1345589	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1359717	Ccdc8	coiled-coil domain containing 8 subunit of 3M complex	gene	DOID:630	genetic disease		ISO	RGD:1351060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1359717	Ccdc8	coiled-coil domain containing 8 subunit of 3M complex	gene	DOID:9002003	Three M Syndrome 3		ISO	RGD:1351060	D	RGD:7240710	20140903	OMIM			
1359717	Ccdc8	coiled-coil domain containing 8 subunit of 3M complex	gene	DOID:9002003	Three M Syndrome 3		ISO	RGD:1351060	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: 3M syndrome 3 | ClinVar Annotator: match by term: CCDC8-related condition | ClinVar Annotator: match by term: THREE M SYNDROME 3	PMID:21737058|PMID:22325252|PMID:23018678|PMID:25741868|PMID:28492532|PMID:28675896
1359718	Wdr45	WD repeat domain 45	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359718	Wdr45	WD repeat domain 45	gene	DOID:0050562	West syndrome		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:28554332|PMID:31665836|PMID:33037762
1359718	Wdr45	WD repeat domain 45	gene	DOID:0060230	basal ganglia calcification		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal ganglia calcification	PMID:32581362
1359718	Wdr45	WD repeat domain 45	gene	DOID:0070100	oculocutaneous albinism type VII		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism, oculocutaneous, type VII	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25363768|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28191889|PMID:28492532|PMID:28554332|PMID:31487502|PMID:31785789|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1348509	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23435086
1359718	Wdr45	WD repeat domain 45	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation	PMID:16199547|PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:28711740
1359718	Wdr45	WD repeat domain 45	gene	DOID:0110739	neurodegeneration with brain iron accumulation 5		ISO	RGD:1348509	D	RGD:7240710	20140911	OMIM			
1359718	Wdr45	WD repeat domain 45	gene	DOID:0110739	neurodegeneration with brain iron accumulation 5		ISO	RGD:1348509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5	PMID:16199547|PMID:17576681|PMID:23176820|PMID:23435086|PMID:23687123|PMID:24368176|PMID:24621584|PMID:24896178|PMID:25263061|PMID:25356899|PMID:25363768|PMID:25533962|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26609730|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:27681470|PMID:28191889|PMID:28492532|PMID:28554332|PMID:28711740|PMID:28878728|PMID:28932395|PMID:29082105|PMID:29171013|PMID:29389947|PMID:29445477|PMID:29681108|PMID:29682453|PMID:29981852|PMID:30455156|PMID:30542205|PMID:30612247|PMID:30713893|PMID:31293896|PMID:31332960|PMID:31487502|PMID:31665836|PMID:31785789|PMID:32307390|PMID:32382396|PMID:32387008|PMID:32682237|PMID:33504798|PMID:33843443|PMID:34325486|PMID:34368840|PMID:34906502|PMID:36028527|PMID:36076926|PMID:36751498|PMID:36980980|PMID:38703036|PMID:39467646|PMID:9536098
1359718	Wdr45	WD repeat domain 45	gene	DOID:0110739	neurodegeneration with brain iron accumulation 5		ISS	RGD:1550935	D	RGD:13592920	20230718	MouseDO		OMIM:300894	
1359718	Wdr45	WD repeat domain 45	gene	DOID:0111181	familial hemiplegic migraine 1		ISO	RGD:1348509	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1	PMID:25741868
1359718	Wdr45	WD repeat domain 45	gene	DOID:0111443	optic atrophy 2		ISO	RGD:1348509	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Optic atrophy 2	
1359718	Wdr45	WD repeat domain 45	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31665836
1359718	Wdr45	WD repeat domain 45	gene	DOID:10534	stomach cancer		ISO	RGD:1348509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1359718	Wdr45	WD repeat domain 45	gene	DOID:1059	intellectual disability		ISO	RGD:1348509	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25533962|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26609730|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:29389947|PMID:29981852|PMID:31487502|PMID:32382396|PMID:32387008|PMID:36980980
1359718	Wdr45	WD repeat domain 45	gene	DOID:10892	hypospadias		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:28492532|PMID:36980980
1359718	Wdr45	WD repeat domain 45	gene	DOID:11782	astigmatism		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:28492532|PMID:36980980
1359718	Wdr45	WD repeat domain 45	gene	DOID:11830	myopia		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:12215	oligohydramnios		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:12849	autistic disorder		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 | ClinVar Annotator: match by term: Autistic behavior	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:31665836|PMID:32382396|PMID:32581362
1359718	Wdr45	WD repeat domain 45	gene	DOID:13250	diarrhea		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:13934	facial paralysis		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial palsy	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:1826	epilepsy		ISO	RGD:1348509	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
1359718	Wdr45	WD repeat domain 45	gene	DOID:1826	epilepsy		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:28932395|PMID:29171013|PMID:29981852|PMID:31487502|PMID:31665836|PMID:32382396|PMID:36980980
1359718	Wdr45	WD repeat domain 45	gene	DOID:1827	generalized epilepsy		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31665836
1359718	Wdr45	WD repeat domain 45	gene	DOID:2030	anxiety disorder		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	
1359718	Wdr45	WD repeat domain 45	gene	DOID:3070	high grade glioma		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359718	Wdr45	WD repeat domain 45	gene	DOID:4362	cervical cancer		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359718	Wdr45	WD repeat domain 45	gene	DOID:480	movement disease		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:535	sleep disorder		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:540	strabismus		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:5723	optic atrophy		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31665836
1359718	Wdr45	WD repeat domain 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359718	Wdr45	WD repeat domain 45	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1359718	Wdr45	WD repeat domain 45	gene	DOID:630	genetic disease		ISO	RGD:1348509	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25363768|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26609730|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28191889|PMID:28492532|PMID:28554332|PMID:28932395|PMID:29171013|PMID:29389947|PMID:29981852|PMID:31487502|PMID:31785789|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359718	Wdr45	WD repeat domain 45	gene	DOID:8501	fundus dystrophy		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31665836
1359718	Wdr45	WD repeat domain 45	gene	DOID:9000197	Edema		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	
1359718	Wdr45	WD repeat domain 45	gene	DOID:9000495	Tremor		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:9001581	Constipation		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
1359718	Wdr45	WD repeat domain 45	gene	DOID:9003133	Hypertelorism		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1359718	Wdr45	WD repeat domain 45	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348509	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889|PMID:29942082
1359718	Wdr45	WD repeat domain 45	gene	DOID:9004507	Hirsutism		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:9005077	Joint Instability		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	
1359718	Wdr45	WD repeat domain 45	gene	DOID:9005616	Micrognathism		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:9005923	CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED		ISO	RGD:1348509	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26609730|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:29389947|PMID:29981852
1359718	Wdr45	WD repeat domain 45	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:23687123|PMID:25533962|PMID:25741868|PMID:28492532|PMID:32387008
1359718	Wdr45	WD repeat domain 45	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:26467025|PMID:27171548
1359718	Wdr45	WD repeat domain 45	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:9007661	Dwarfism		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:27159028
1359718	Wdr45	WD repeat domain 45	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741886|PMID:25741887|PMID:25744623|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:28932395|PMID:29171013|PMID:29981852|PMID:31487502|PMID:31665836|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:9008421	Epistaxis		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359718	Wdr45	WD repeat domain 45	gene	DOID:9008582	Developmental Disease		ISO	RGD:1348509	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1359718	Wdr45	WD repeat domain 45	gene	DOID:936	brain disease		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
1359718	Wdr45	WD repeat domain 45	gene	DOID:9775	diastolic heart failure		ISO	RGD:1348509	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1359718	Wdr45	WD repeat domain 45	gene	DOID:9970	obesity		ISO	RGD:1348509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:23176820|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:31487502|PMID:32382396
1359720	Cfap20dc	CFAP20 domain containing	gene	DOID:3275	thymoma		ISO	RGD:1605264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359720	Cfap20dc	CFAP20 domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359721	Btrc	beta-transducin repeat containing E3 ubiquitin protein ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359721	Btrc	beta-transducin repeat containing E3 ubiquitin protein ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1347748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359721	Btrc	beta-transducin repeat containing E3 ubiquitin protein ligase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359721	Btrc	beta-transducin repeat containing E3 ubiquitin protein ligase	gene	DOID:1909	melanoma		ISO	RGD:1347748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359721	Btrc	beta-transducin repeat containing E3 ubiquitin protein ligase	gene	DOID:5041	esophageal cancer		ISO	RGD:1347748	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1359721	Btrc	beta-transducin repeat containing E3 ubiquitin protein ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359721	Btrc	beta-transducin repeat containing E3 ubiquitin protein ligase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1359721	Btrc	beta-transducin repeat containing E3 ubiquitin protein ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359721	Btrc	beta-transducin repeat containing E3 ubiquitin protein ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359722	Tob2	transducer of ERBB2, 2	gene	DOID:1115	sarcoma		ISO	RGD:1342508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359722	Tob2	transducer of ERBB2, 2	gene	DOID:12306	vitiligo		ISO	RGD:1342508	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561518
1359722	Tob2	transducer of ERBB2, 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359722	Tob2	transducer of ERBB2, 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359723	Rnase11	ribonuclease A family member 11	gene	DOID:10534	stomach cancer		ISO	RGD:1602837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359725	Golga7	golgin A7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359725	Golga7	golgin A7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1359725	Golga7	golgin A7	gene	DOID:1115	sarcoma		ISO	RGD:1351077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359725	Golga7	golgin A7	gene	DOID:3275	thymoma		ISO	RGD:1351077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359725	Golga7	golgin A7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359725	Golga7	golgin A7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359727	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359727	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359727	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359727	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359727	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359727	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359727	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1359727	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1359727	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359727	Cept1	choline/ethanolamine phosphotransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1359731	Alkbh3	alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359731	Alkbh3	alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase	gene	DOID:10534	stomach cancer		ISO	RGD:1606677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359731	Alkbh3	alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase	gene	DOID:1115	sarcoma		ISO	RGD:1606677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1359731	Alkbh3	alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase	gene	DOID:1909	melanoma		ISO	RGD:1606677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359731	Alkbh3	alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase	gene	DOID:4362	cervical cancer		ISO	RGD:1606677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359731	Alkbh3	alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase	gene	DOID:6039	uveal melanoma		ISO	RGD:1606677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1359731	Alkbh3	alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359731	Alkbh3	alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:14679	VACTERL association		ISO	RGD:1346837	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: VACTERL association	PMID:25741868
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:8398	osteoarthritis		ISO	RGD:1346837	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1346837	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1346837	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359733	Trap1	TNF receptor-associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL	
1359735	Akap3	A-kinase anchoring protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359735	Akap3	A-kinase anchoring protein 3	gene	DOID:0070581	spermatogenic failure 82		ISO	RGD:1348905	D	RGD:7240710	20230505	OMIM			
1359735	Akap3	A-kinase anchoring protein 3	gene	DOID:0070581	spermatogenic failure 82		ISO	RGD:1348905	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 82 | ClinVar Annotator: match by term: Spermatogenic failure 82	PMID:25741868
1359735	Akap3	A-kinase anchoring protein 3	gene	DOID:1909	melanoma		ISO	RGD:1348905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1359735	Akap3	A-kinase anchoring protein 3	gene	DOID:3275	thymoma		ISO	RGD:1348905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1359735	Akap3	A-kinase anchoring protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359735	Akap3	A-kinase anchoring protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359736	Tmem98	transmembrane protein 98	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1359736	Tmem98	transmembrane protein 98	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607062	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1359736	Tmem98	transmembrane protein 98	gene	DOID:10534	stomach cancer		ISO	RGD:1607062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1359736	Tmem98	transmembrane protein 98	gene	DOID:1324	lung cancer		ISO	RGD:1607062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1359736	Tmem98	transmembrane protein 98	gene	DOID:4362	cervical cancer		ISO	RGD:1607062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1359736	Tmem98	transmembrane protein 98	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1359736	Tmem98	transmembrane protein 98	gene	DOID:6039	uveal melanoma		ISO	RGD:1607062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1359736	Tmem98	transmembrane protein 98	gene	DOID:630	genetic disease		ISO	RGD:1607062	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1359736	Tmem98	transmembrane protein 98	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1359736	Tmem98	transmembrane protein 98	gene	DOID:9008422	Nanophthalmos 4		ISO	RGD:1607062	D	RGD:7240710	20170329	OMIM			
1359736	Tmem98	transmembrane protein 98	gene	DOID:9008422	Nanophthalmos 4		ISO	RGD:1607062	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NANOPHTHALMOS 4	
1359736	Tmem98	transmembrane protein 98	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
13627261	Avp<sup>di</sup>	arginine vasopressin; diabetes insipidus mutant	gene	DOID:9005274	Polyuria		IAGP		D	RGD:2314654|PMID:10919858	20201210	RGD			
13627261	Avp<sup>di</sup>	arginine vasopressin; diabetes insipidus mutant	gene	DOID:9409	diabetes insipidus		IAGP		D	RGD:150429658|PMID:6717565	20210916	RGD		DNA:deletion:cds:exon B (rat)	
13627261	Avp<sup>di</sup>	arginine vasopressin; diabetes insipidus mutant	gene	DOID:9409	diabetes insipidus		IAGP		D	RGD:2314654|PMID:10919858	20201210	RGD			
13627261	Avp<sup>di</sup>	arginine vasopressin; diabetes insipidus mutant	gene	DOID:9409	diabetes insipidus		IAGP		D	RGD:2314661|PMID:13995944	20210225	RGD			
13627261	Avp<sup>di</sup>	arginine vasopressin; diabetes insipidus mutant	gene	DOID:9409	diabetes insipidus		IAGP		D	RGD:632128|PMID:5692127	20210225	RGD			
13627261	Avp<sup>di</sup>	arginine vasopressin; diabetes insipidus mutant	gene	DOID:9409	diabetes insipidus	treatment	IMP		D	RGD:150429657|PMID:9396613	20210916	RGD			
13627261	Avp<sup>di</sup>	arginine vasopressin; diabetes insipidus mutant	gene	DOID:9744	type 1 diabetes mellitus		IAGP		D	RGD:2314661|PMID:13995944	20210225	RGD			
13627261	Avp<sup>di</sup>	arginine vasopressin; diabetes insipidus mutant	gene	DOID:9744	type 1 diabetes mellitus		IAGP		D	RGD:632128|PMID:5692127	20210225	RGD			
13628730	SD-<i>Il2rg<sup>em1Ang</sup></i>		strain	DOID:9004654	Immune Deficiency Disease		IMP		D	RGD:13628403|PMID:29688994	20180620	RGD			
13628731	Il2rg<sup>em1Ang</sup>	interleukin 2 receptor subunit gamma;TALEN induced mutant1, Ang	gene	DOID:9004654	Immune Deficiency Disease		IMP		D	RGD:13628403|PMID:29688994	20180620	RGD			
13703119	SD-<i>Lamp2<sup>em1</sup></i>		strain	DOID:0050437	Danon disease	MODEL: induced	IMP		D	RGD:13703117|PMID:29720683	20180803	RGD		in hemizygote mutant male (LAMP2y/-)	
13703119	SD-<i>Lamp2<sup>em1</sup></i>		strain	DOID:11984	hypertrophic cardiomyopathy		IMP		D	RGD:13703117|PMID:29720683	20180803	RGD		in hemizygote mutant male (LAMP2y/-)	
13703119	SD-<i>Lamp2<sup>em1</sup></i>		strain	DOID:13580	cholestasis	MODEL: induced	IMP		D	RGD:13703118|PMID:28124283	20180803	RGD		in hemizygote mutant male (LAMP2y/-)	
13703119	SD-<i>Lamp2<sup>em1</sup></i>		strain	DOID:2475	chronic conjunctivitis		IMP		D	RGD:13703117|PMID:29720683	20180803	RGD		in hemizygote mutant male (LAMP2y/-)	
13703121	Lamp2<sup>em1</sup>	lysosomal-associated membrane protein 2; TALEN induced mutant1	gene	DOID:0050437	Danon disease		IMP		D	RGD:13703117|PMID:29720683	20180803	RGD		in hemizygote mutant male (LAMP2y/-)	
13703121	Lamp2<sup>em1</sup>	lysosomal-associated membrane protein 2; TALEN induced mutant1	gene	DOID:11984	hypertrophic cardiomyopathy		IMP		D	RGD:13703117|PMID:29720683	20180803	RGD		in hemizygote mutant male (LAMP2y/-)	
13703121	Lamp2<sup>em1</sup>	lysosomal-associated membrane protein 2; TALEN induced mutant1	gene	DOID:13580	cholestasis		IMP		D	RGD:13703118|PMID:28124283	20180803	RGD		in hemizygote mutant male (LAMP2y/-)	
13703121	Lamp2<sup>em1</sup>	lysosomal-associated membrane protein 2; TALEN induced mutant1	gene	DOID:1561	cognitive disorder		IMP		D	RGD:13703117|PMID:29720683	20180803	RGD		in hemizygote mutant male (LAMP2y/-)	
13703121	Lamp2<sup>em1</sup>	lysosomal-associated membrane protein 2; TALEN induced mutant1	gene	DOID:2475	chronic conjunctivitis		IMP		D	RGD:13703117|PMID:29720683	20180803	RGD		in hemizygote mutant male (LAMP2y/-)	
13782371	SD-<i>Cacna1f <sup>csnb</sup></i>	congenital stationary night blindness rat	strain	DOID:0050534	congenital stationary night blindness		IAGP		D	RGD:13782370|PMID:18246026	20180910	RGD		DNA:mutation:cds: c.2941C>T (rat)	
13782372	Cacna1f <sup>csnb</sup>	calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant	gene	DOID:0050534	congenital stationary night blindness		IAGP		D	RGD:13782370|PMID:18246026	20180910	RGD		DNA:mutation:cds: c.2941C>T (rat)	
13792571	Oprl1<sup>m1Hubr</sup>	opioid related nociceptin receptor 1; ENU induced mutant1, Hubr	gene	DOID:0050741	alcohol dependence	ameliorates	IAGP		D	RGD:616572759|PMID:27562376	20250619	RGD		compared to Wistar Han NOP+/+ outbred control rats	
13792571	Oprl1<sup>m1Hubr</sup>	opioid related nociceptin receptor 1; ENU induced mutant1, Hubr	gene	DOID:0050742	nicotine dependence		IAGP		D	RGD:616572755|PMID:34854073	20250619	RGD		compared to Wistar Han NOP+/+ control rats	
13792571	Oprl1<sup>m1Hubr</sup>	opioid related nociceptin receptor 1; ENU induced mutant1, Hubr	gene	DOID:9975	cocaine dependence	ameliorates	IAGP		D	RGD:616572759|PMID:27562376	20250619	RGD		compared to Wistar Han NOP+/+ outbred control rats	
13792571	Oprl1<sup>m1Hubr</sup>	opioid related nociceptin receptor 1; ENU induced mutant1, Hubr	gene	DOID:9976	heroin dependence	ameliorates	IAGP		D	RGD:616572759|PMID:27562376	20250619	RGD		compared to Wistar Han NOP+/+ outbred control rats	
13792572	WI-<i>Oprl1<sup>m1Hubr-/-</sup></i>	NOPr knockout rat	strain	DOID:0050741	alcohol dependence	ameliorates	IAGP		D	RGD:616572759|PMID:27562376	20250617	RGD		compared to Wistar Han NOP+/+ outbred control rats	
13792572	WI-<i>Oprl1<sup>m1Hubr-/-</sup></i>	NOPr knockout rat	strain	DOID:0050742	nicotine dependence		IAGP		D	RGD:616572755|PMID:34854073	20250616	RGD		compared to Wistar Han NOP+/+ control rats	
13792572	WI-<i>Oprl1<sup>m1Hubr-/-</sup></i>	NOPr knockout rat	strain	DOID:9975	cocaine dependence	ameliorates	IAGP		D	RGD:616572759|PMID:27562376	20250617	RGD		compared to Wistar Han NOP+/+ outbred control rats	
13792572	WI-<i>Oprl1<sup>m1Hubr-/-</sup></i>	NOPr knockout rat	strain	DOID:9976	heroin dependence	ameliorates	IAGP		D	RGD:616572759|PMID:27562376	20250617	RGD		compared to Wistar Han NOP+/+ outbred control rats	
13792606	SD-<i>Cd59b<sup>em1Ask</sup>-/-</sup></i>		strain	DOID:8869	neuromyelitis optica	severity	IMP		D	RGD:13792592|PMID:28212662	20180924	RGD			
13792701	SD-<i>Trpv1<sup>em1Sage-/-</sup></i>		strain	DOID:5844	myocardial infarction		IMP		D	RGD:13792689|PMID:27671317	20180921	RGD			
13792702	Trpv1<sup>em1Sage</sup>	transient receptor potential cation channel, subfamily V, member 1; ZFN induced mutant 1, Sage	gene	DOID:5844	myocardial infarction		IMP		D	RGD:13792689|PMID:27671317	20180921	RGD			
13792720	Cd59b<sup>em1Ask</sup>	CD59b molecule; CRISPR/Cas9 induced mutant1, Ask	gene	DOID:8869	neuromyelitis optica	severity	IMP		D	RGD:13792592|PMID:28212662	20180924	RGD			
13800556	F344-<i>Hsd11b2<sup>em1Jmul-/-</sup></i>	F344-<i>Hsd11b2<sup>em1Jmul-</sup>/Hsd11b2<sup>em1Jmul-</sup></i>	strain	DOID:10763	hypertension		IMP		D	RGD:13800514|PMID:26077568	20220131	RGD			
13800560	Hsd11b2<sup>em1Jmul</sup>	hydroxysteroid 11-beta dehydrogenase 2; ZFN induced mutant1, Jmul	gene	DOID:10763	hypertension		IMP		D	RGD:13800514|PMID:26077568	20220203	RGD			
13800746	SS-<i>F8<sup>em1Mcwi</sup></i>		strain	DOID:0111823	autosomal hemophilia A		IMP		D	RGD:150520060|PMID:31899798	20260403	RGD			
13800746	SS-<i>F8<sup>em1Mcwi</sup></i>		strain	DOID:12134	factor VIII deficiency	treatment	IMP		D	RGD:150520060|PMID:31899798	20211026	RGD			
13800746	SS-<i>F8<sup>em1Mcwi</sup></i>		strain	DOID:801	hemarthrosis	treatment	IMP		D	RGD:150520060|PMID:31899798	20211026	RGD			
13800747	F8<sup>em1Mcwi</sup>	coagulation factor VIII, procoagulant component; CRISPR/Cas9 induced mutant1, Mcwi	gene	DOID:0111823	autosomal hemophilia A		IMP		D	RGD:150520060|PMID:31899798	20260409	RGD			
13800747	F8<sup>em1Mcwi</sup>	coagulation factor VIII, procoagulant component; CRISPR/Cas9 induced mutant1, Mcwi	gene	DOID:12134	factor VIII deficiency	treatment	IMP		D	RGD:150520060|PMID:31899798	20211028	RGD			
13800747	F8<sup>em1Mcwi</sup>	coagulation factor VIII, procoagulant component; CRISPR/Cas9 induced mutant1, Mcwi	gene	DOID:801	hemarthrosis	treatment	IMP		D	RGD:150520060|PMID:31899798	20211028	RGD			
13825199	WI-<i>Mc4r<sup>m1Hubr</sup></i>		strain	DOID:9007692	Insulin Resistance		IMP		D	RGD:13825242|PMID:24400148	20210609	RGD		DNA:nonsense mutation:cds:p.K314X	
13825199	WI-<i>Mc4r<sup>m1Hubr</sup></i>		strain	DOID:9970	obesity	MODEL: spontaneous	IMP		D	RGD:13825242|PMID:24400148	20210609	RGD			
13825199	WI-<i>Mc4r<sup>m1Hubr</sup></i>		strain	DOID:9970	obesity	MODEL: spontaneous	IMP		D	RGD:6478803|PMID:21527895	20181129	RGD			
13825200	Mc4r<sup>m1Hubr</sup>	melanocortin 4 receptor; ENU induced mutation 1, Hubr	gene	DOID:9007692	Insulin Resistance		IMP		D	RGD:13825242|PMID:24400148	20210609	RGD		DNA:nonsense mutation:cds:p.K314X	
13825200	Mc4r<sup>m1Hubr</sup>	melanocortin 4 receptor; ENU induced mutation 1, Hubr	gene	DOID:9970	obesity		IMP		D	RGD:13825242|PMID:24400148	20210609	RGD		DNA:nonsense mutation:cds:p.K314X	
13825200	Mc4r<sup>m1Hubr</sup>	melanocortin 4 receptor; ENU induced mutation 1, Hubr	gene	DOID:9970	obesity		IMP		D	RGD:6478803|PMID:21527895	20181129	RGD		DNA:nonsense mutation:cds:p.K314X	
13830868	Dock8<sup>m1Ztm</sup>	dedicator of cytokinesis 8;mutant 1, Ztm	gene	DOID:9744	type 1 diabetes mellitus		IAGP		D	RGD:11532657|PMID:26363782	20181206	RGD			
13838727	Bscl2<sup>m1Kyo</sup>	BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo	gene	DOID:14227	azoospermia		IMP		D	RGD:11085488|PMID:25934999	20190109	RGD			
13838727	Bscl2<sup>m1Kyo</sup>	BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo	gene	DOID:9007692	Insulin Resistance		IMP		D	RGD:11085488|PMID:25934999	20190109	RGD			
14390067	WI-<i>Slc6a4<sup>m1Hubr-/-</sup></i>		strain	DOID:1596	depressive disorder		IMP		D	RGD:4889509|PMID:18295409	20210521	RGD			
14390067	WI-<i>Slc6a4<sup>m1Hubr-/-</sup></i>		strain	DOID:2030	anxiety disorder		IMP		D	RGD:4889509|PMID:18295409	20210521	RGD			
14390068	Slc6a4<sup>m1Hubr</sup>	solute carrier family 6 member 4; ZFN induced mutant1, Hubr	gene	DOID:1596	depressive disorder		IMP		D	RGD:4889509|PMID:18295409	20210527	RGD			
14390068	Slc6a4<sup>m1Hubr</sup>	solute carrier family 6 member 4; ZFN induced mutant1, Hubr	gene	DOID:2030	anxiety disorder		IMP		D	RGD:4889509|PMID:18295409	20210527	RGD			
14392814	Cftr<sup>em1Sage</sup>	cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage	gene	DOID:0111862	congenital bilateral absence of vas deferens		IMP		D	RGD:11566051|PMID:24608905	20220120	RGD			
14392814	Cftr<sup>em1Sage</sup>	cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage	gene	DOID:1485	cystic fibrosis		IMP		D	RGD:11566051|PMID:24608905	20220120	RGD			
14392815	SD-<i>Cftr<sup>em1Sage-/-</sup></i>		strain	DOID:0111862	congenital bilateral absence of vas deferens		IMP		D	RGD:11566051|PMID:24608905	20220118	RGD			
14392815	SD-<i>Cftr<sup>em1Sage-/-</sup></i>		strain	DOID:1485	cystic fibrosis		IMP		D	RGD:11566051|PMID:24608905	20220118	RGD			
14394491	LEW-<i>Glp1r<sup>em3Mcwi</sup></i>		strain	DOID:9452	steatotic liver disease	ameliorates	IMP	XCO:0000882	D	RGD:407446382|PMID:35618993	20260219	RGD			
14394492	Glp1r<sup>em3Mcwi</sup>	glucagon-like peptide 1 receptor; CRISPR/Cas9 induced mutant 3, Mcwi	gene	DOID:9452	steatotic liver disease	ameliorates	IMP	XCO:0000882	D	RGD:407446382|PMID:35618993	20260226	RGD			
14394515	LE-<i>Grin2b<sup>em1Mcwi</sup></i>		strain	DOID:0070309	absence epilepsy		IMP		D	RGD:626170607|PMID:40827489	20260610	RGD			
14394517	Grin2b<sup>em1Mcwi</sup>	glutamate ionotropic receptor NMDA type subunit 2B; CRISPR/Cas9 induced mutant 1, Mcwi	gene	DOID:0070309	absence epilepsy		IMP		D	RGD:626170607|PMID:40827489	20260611	RGD			
14398588	Mir340	microRNA 340	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1352110	D	RGD:11554173	20211228	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
14398588	Mir340	microRNA 340	gene	DOID:1909	melanoma		ISO	RGD:1352110	D	RGD:11554173	20211228	CTD		CTD Direct Evidence: marker/mechanism	PMID:25043973
14398588	Mir340	microRNA 340	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352110	D	RGD:9068941	20211224	RGD		miRNA:decreased expression:liver	PMID:27998770|REF_RGD_ID:18936991
14398588	Mir340	microRNA 340	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1352110	D	RGD:11554173	20211228	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
14398588	Mir340	microRNA 340	gene	DOID:9002221	Hyperplasia		ISO	RGD:1352110	D	RGD:11554173	20211228	CTD		CTD Direct Evidence: marker/mechanism	PMID:25926378
14398765	Edaradd<sup><i>swhKyo</i></sup>	EDAR-associated death domain;swh Kyo mutant	gene	DOID:14793	hypohidrotic ectodermal dysplasia		IAGP		D	RGD:14398762|PMID:22013926	20201210	RGD			
14398825	SD-<i>Fah<sup>em15Dlli-/-</sup></i>		strain	DOID:0050726	tyrosinemia type I	MODEL	IMP		D	RGD:14398823|PMID:27510266	20190502	RGD		by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)in the drinking water.	
14398825	SD-<i>Fah<sup>em15Dlli-/-</sup></i>		strain	DOID:5082	liver cirrhosis		IMP		D	RGD:14398823|PMID:27510266	20190502	RGD		after NTBC withdrawal in the drinking water	
14398826	Fah<sup>em15Dlli-/-</sup>	fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 15, Dlli	gene	DOID:0050726	tyrosinemia type I		IMP		D	RGD:14398823|PMID:27510266	20201210	RGD		by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)in the drinking water.	
14398826	Fah<sup>em15Dlli-/-</sup>	fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 15, Dlli	gene	DOID:5082	liver cirrhosis		IMP		D	RGD:14398823|PMID:27510266	20190502	RGD		after NTBC withdrawal in the drinking water	
14398828	SD-<i>Fah<sup>em10Dlli-/-</sup></i>		strain	DOID:0050726	tyrosinemia type I	MODEL	IMP		D	RGD:14398827|PMID:29507093	20190502	RGD		by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) in drinking water	
14398829	Fah<sup>em10Dlli-/-</sup>	fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 10, Dlli	gene	DOID:0050726	tyrosinemia type I		IMP		D	RGD:14398827|PMID:29507093	20190502	RGD		by controlling 2-(2-Nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) in drinking water	
14695003	SD-<i>L1cam<sup>em2Jgn</sup></i>		strain	DOID:0070686	X-linked congenital hydrocephalus	MODEL: spontaneous	IMP		D	RGD:14695001|PMID:30738385	20190725	RGD			
14695085	SD-<i>Trim63<sup>em1(hiLuc)</sup></i>/Rrrc		strain	DOID:9884	muscular dystrophy	MODEL: induced	IMP		D	RGD:14695084|PMID:24710205	20190725	RGD		dexamethaso-induced and hindlimb denervation	
14696719	F344-<i>Trpc4<sup>Tn(sb-T2/Bart3)2.192Mcwi+/+</sup></i>		strain	DOID:9008820	Visceral Pain		IMP		D	RGD:13825245|PMID:24388923	20190719	RGD			
14696720	F344-<i>Trpc4<sup>Tn(sb-T2/Bart3)2.192Mcwi-/-</sup></i>		strain	DOID:9008820	Visceral Pain		IMP		D	RGD:13825245|PMID:24388923	20190719	RGD			
14696721	F344-<i>Trpc4<sup>Tn(sb-T2/Bart3)2.192Mcwi-/+</sup></i>		strain	DOID:9008820	Visceral Pain		IMP		D	RGD:13825245|PMID:24388923	20190719	RGD			
14696788	L1cam<sup>em2Jgn</sup>	L1 cell adhesion molecule;CRISPR/Cas9 induced mutant2,JGN	gene	DOID:0070686	X-linked congenital hydrocephalus		IMP		D	RGD:14695001|PMID:30738385	20201210	RGD			
14696789	Trim63<sup>em1(hiLuc)</sup>	tripartite motif containing 63; ZFN targeted mutation 1	gene	DOID:9884	muscular dystrophy		IMP		D	RGD:14695084|PMID:24710205	20201210	RGD		dexamethaso-induced and hindlimb denervation	
149735330	Kcnn2<sup>Trdk</sup>	potassium calcium-activated channel subfamily N member 2; Trdk mutant	gene	DOID:4990	essential tremor		IMP		D	RGD:38508907|PMID:28917524	20210722	RGD		DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat)	
149735334	SD-<i>Wfs1<sup>em1Ptsn</sup></i>		strain	DOID:10603	glucose intolerance	treatment	IMP	XCO:0000907	D	RGD:150519890|PMID:29976929	20211013	RGD			
149735334	SD-<i>Wfs1<sup>em1Ptsn</sup></i>		strain	DOID:83	cataract	onset	IMP		D	RGD:149735331|PMID:28860598	20210723	RGD			
149735334	SD-<i>Wfs1<sup>em1Ptsn</sup></i>		strain	DOID:9351	diabetes mellitus	onset	IMP		D	RGD:149735331|PMID:28860598	20210723	RGD			
149735335	Wfs1<sup>em1Ptsn</sup>	wolframin ER transmembrane glycoprotein; ZFN induced mutant 1	gene	DOID:10603	glucose intolerance	treatment	IMP	XCO:0000907	D	RGD:150519890|PMID:29976929	20211021	RGD			
149735335	Wfs1<sup>em1Ptsn</sup>	wolframin ER transmembrane glycoprotein; ZFN induced mutant 1	gene	DOID:83	cataract	onset	IMP		D	RGD:149735331|PMID:28860598	20210729	RGD			
149735335	Wfs1<sup>em1Ptsn</sup>	wolframin ER transmembrane glycoprotein; ZFN induced mutant 1	gene	DOID:9351	diabetes mellitus	onset	IMP		D	RGD:149735331|PMID:28860598	20210729	RGD			
149735565	Ngly1<sup>em1Ta</sup>	N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta	gene	DOID:0060728	congenital disorder of deglycosylation 1		IMP		D	RGD:39457703|PMID:32259258	20210729	RGD		compared to Wild type	
14975305	F344-<i>Bmpr2<sup>em1Sage+/-</sup></i>		strain	DOID:6432	pulmonary hypertension	MODEL: induced	IMP		D	RGD:14975304|PMID:31462075	20191010	RGD		induced by human ad-ALOX5	
14981587	Bmpr2<sup>em1Sage</sup>	bone morphogenetic protein receptor type 2; ZFN induced mutant 1, Sage	gene	DOID:6432	pulmonary hypertension		IMP		D	RGD:14975304|PMID:31462075	20201210	RGD		induced by human ad-ALOX5	
14981588	F344-<i>Bmpr2<sup>em2Sage+/-</sup></i>		strain	DOID:6432	pulmonary hypertension	MODEL: induced	IMP		D	RGD:14975304|PMID:31462075	20191010	RGD		induced by human ad-ALOX5	
14981589	Bmpr2<sup>em2Sage</sup>	bone morphogenetic protein receptor type 2; ZFN induced mutant 2, Sage	gene	DOID:6432	pulmonary hypertension		IMP		D	RGD:14975304|PMID:31462075	20201210	RGD		induced by human ad-ALOX5	
14995941	Wpk	Wistar polycystic kidney  rat	strain	DOID:0110861	autosomal recessive polycystic kidney disease		IAGP		D	RGD:1300514|PMID:11095650	20191118	RGD			
14995941	Wpk	Wistar polycystic kidney  rat	strain	DOID:0110861	autosomal recessive polycystic kidney disease		IAGP		D	RGD:14995942|PMID:30705305	20191111	RGD			
14995941	Wpk	Wistar polycystic kidney  rat	strain	DOID:0110861	autosomal recessive polycystic kidney disease		IAGP		D	RGD:15014788|PMID:15052665	20191115	RGD			
14995941	Wpk	Wistar polycystic kidney  rat	strain	DOID:0110861	autosomal recessive polycystic kidney disease	MODEL: control	IAGP		D	RGD:1300514|PMID:11095650	20191118	RGD			
14995941	Wpk	Wistar polycystic kidney  rat	strain	DOID:10908	hydrocephalus		IAGP		D	RGD:14995942|PMID:30705305	20191111	RGD			
14995941	Wpk	Wistar polycystic kidney  rat	strain	DOID:10908	hydrocephalus		IAGP		D	RGD:15014788|PMID:15052665	20191115	RGD			
14995941	Wpk	Wistar polycystic kidney  rat	strain	DOID:576	proteinuria	MODEL: control	IAGP		D	RGD:1300514|PMID:11095650	20191118	RGD			
14995943	Tmem67<sup>wpk</sup>	transmembrane protein 67; wpk mutant	gene	DOID:0070117	Meckel syndrome 3		IAGP		D	RGD:11535082|PMID:16415887	20210225	RGD			
14995943	Tmem67<sup>wpk</sup>	transmembrane protein 67; wpk mutant	gene	DOID:0110861	autosomal recessive polycystic kidney disease		IAGP		D	RGD:1300514|PMID:11095650	20201210	RGD			
14995943	Tmem67<sup>wpk</sup>	transmembrane protein 67; wpk mutant	gene	DOID:0110861	autosomal recessive polycystic kidney disease		IAGP		D	RGD:14995942|PMID:30705305	20191111	RGD			
14995943	Tmem67<sup>wpk</sup>	transmembrane protein 67; wpk mutant	gene	DOID:0110861	autosomal recessive polycystic kidney disease		IAGP		D	RGD:15014788|PMID:15052665	20201210	RGD			
14995943	Tmem67<sup>wpk</sup>	transmembrane protein 67; wpk mutant	gene	DOID:10908	hydrocephalus		IAGP		D	RGD:14995942|PMID:30705305	20191111	RGD			
14995943	Tmem67<sup>wpk</sup>	transmembrane protein 67; wpk mutant	gene	DOID:10908	hydrocephalus		IAGP		D	RGD:15014788|PMID:15052665	20201210	RGD			
14995943	Tmem67<sup>wpk</sup>	transmembrane protein 67; wpk mutant	gene	DOID:1573	communicating hydrocephalus		IAGP		D	RGD:14995942|PMID:30705305	20200130	RGD			
14995943	Tmem67<sup>wpk</sup>	transmembrane protein 67; wpk mutant	gene	DOID:576	proteinuria		IAGP		D	RGD:1300514|PMID:11095650	20201210	RGD		compared to RGD:14995941	
15004087	Ighm	immunoglobulin heavy constant epsilon	gene	DOID:2115	B cell deficiency		IMP		D	RGD:150523760|PMID:21038471	20211118	RGD			
15006684	Mir486	microRNA 486	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1604866	D	RGD:11554173	20191210	CTD		CTD Direct Evidence: marker/mechanism	PMID:20868653
15006684	Mir486	microRNA 486	gene	DOID:11294	arteriovenous malformation		ISO	RGD:1604866	D	RGD:155582214|PMID:23051042	20221013	RGD		miRNA:increased expression:blood plasma (human)	
15006684	Mir486	microRNA 486	gene	DOID:3021	acute kidney failure		ISO	RGD:1608179	D	RGD:11554173	20220705	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:30682439|PMID:35279909
15008789	Hhla1	HHLA1 neighbor of OC90	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
15008789	Hhla1	HHLA1 neighbor of OC90	gene	DOID:1115	sarcoma		ISO	RGD:1353531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
15008789	Hhla1	HHLA1 neighbor of OC90	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
15008789	Hhla1	HHLA1 neighbor of OC90	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
15017093	Wpk <sup>+/-</sup>	Wpk heterozygous rat	strain	DOID:0070117	Meckel syndrome 3		IAGP		D	RGD:11535082|PMID:16415887	20210224	RGD			
15017093	Wpk <sup>+/-</sup>	Wpk heterozygous rat	strain	DOID:10908	hydrocephalus		IAGP		D	RGD:14995942|PMID:30705305	20200130	RGD			
15017094	Wpk <sup>-/-</sup>	Wpk homozygous rat	strain	DOID:0110861	autosomal recessive polycystic kidney disease	MODEL: spontaneous	IAGP		D	RGD:1300514|PMID:11095650	20191118	RGD		compared to RGD:14995941	
15017094	Wpk <sup>-/-</sup>	Wpk homozygous rat	strain	DOID:1573	communicating hydrocephalus		IAGP		D	RGD:14995942|PMID:30705305	20200130	RGD			
15017094	Wpk <sup>-/-</sup>	Wpk homozygous rat	strain	DOID:576	proteinuria	MODEL: spontaneous	IAGP		D	RGD:1300514|PMID:11095650	20191118	RGD		compared to RGD:14995941	
150340622	Dnd1<sup>ter</sup>	DND microRNA-mediated repression inhibitor 1, ter mutant	gene	DOID:3305	teratocarcinoma		IAGP		D	RGD:40924659|PMID:22655094	20210826	RGD		compared to WKY	
150344952	Zfp790	zinc finger protein 420-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
15036806	WKAH/Tj	Wistar-King A, WKA	strain	DOID:686	liver carcinoma	induces	IAGP	XCO:0000206	D	RGD:1302456|PMID:11509115	20191119	RGD			
15039305	Mir347	microRNA mir-347	gene	DOID:0060071	pre-malignant neoplasm		EXP		D	RGD:11554173	20191203	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
15039305	Mir347	microRNA mir-347	gene	DOID:9001586	Experimental Liver Neoplasms		EXP		D	RGD:11554173	20191203	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
15039312	Mir352	microRNA mir-352	gene	DOID:9001586	Experimental Liver Neoplasms		EXP		D	RGD:11554173	20191203	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
150404267	LEW-<i>Myo15a<sup>ci2</sup></i>/Ztm		strain	DOID:1432	blindness	induces	IAGP	XCO:0000181	D	RGD:150429616|PMID:21479269	20210909	RGD		compared to LEW/Ztm	
150404269	Myo15a<sup>ci2</sup>	myosin XVA; ci2 mutant	gene	DOID:1432	blindness		IAGP		D	RGD:150429616|PMID:21479269	20260604	RGD			
150429606	MWF.SHR-(<i>D6Rat1-D6Rat81</i>)/Rkb		strain	DOID:9001542	Albuminuria		IAGP		D	RGD:15023481|PMID:30900988	20210908	RGD		compared to MWF.SHR-(D6Rat1-D6Mgh4)	
150429632	Hcn1<sup>em1Kyo</sup>	hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo	gene	DOID:4990	essential tremor		IGI	RGD:11564348	D	RGD:150429620|PMID:32507787	20220225	RGD			
150429634	F344 -<i>Aspa<sup>em34Kyo</sup>  Hcn1<sup>em1Kyo</sup></i>		strain	DOID:4990	essential tremor	treatment	IAGP		D	RGD:150429620|PMID:32507787	20220225	RGD			
150429814	SD-<i>Gnal<sup>em1Hpng+/-</sup></i>		strain	DOID:543	dystonia		IMP		D	RGD:150429833|PMID:31678405	20211004	RGD		compared to wildtype controls	
150429816	Gnal<sup>em1Hpng</sup></i>	G protein subunit alpha L; CRISPR/Cas9 induced mutant 1, Hpng	gene	DOID:543	dystonia		IMP		D	RGD:150429833|PMID:31678405	20211007	RGD		compared to wildtype controls	
150429817	SD-<i>Gnal<sup>em1Hpng-/-</sup></i>		strain	DOID:543	dystonia		IMP		D	RGD:150429833|PMID:31678405	20211004	RGD		compared to wildtype controls and heterozygotes	
150429828	SD-<i>Tspo<sup>em1Vpl</sup></i>		strain	DOID:14502	cholesterol ester storage disease		IMP		D	RGD:150429771|PMID:29074640	20211005	RGD			
150429830	SD-<i>Tspo<sup>em2Vpl</sup></i>		strain	DOID:14502	cholesterol ester storage disease		IMP		D	RGD:150429771|PMID:29074640	20211005	RGD			
150429831	Tspo<sup>em1Vpl</sup>	translocator protein; ZFN induced mutant1, Vpl	gene	DOID:14502	cholesterol ester storage disease		IMP		D	RGD:150429771|PMID:29074640	20211007	RGD			
150429832	Tspo<sup>em2Vpl</sup>	translocator protein; ZFN induced mutant2, Vpl	gene	DOID:14502	cholesterol ester storage disease		IMP		D	RGD:150429771|PMID:29074640	20211007	RGD			
150429960	WIC-<i>Wwox<sup>lde</sup></i>/Fta		strain	DOID:1826	epilepsy		IAGP		D	RGD:150429974|PMID:18676360	20211008	RGD		compared to wild type and heterozygotes	
150429960	WIC-<i>Wwox<sup>lde</sup></i>/Fta		strain	DOID:1826	epilepsy		IAGP		D	RGD:150429978|PMID:17803050	20211008	RGD		compared to wild type and heterozygotes	
150429960	WIC-<i>Wwox<sup>lde</sup></i>/Fta		strain	DOID:1826	epilepsy		IAGP		D	RGD:150429979|PMID:19500159	20211008	RGD		compared to wild type and heterozygotes	
150429960	WIC-<i>Wwox<sup>lde</sup></i>/Fta		strain	DOID:9002563	Gait Ataxia		IAGP		D	RGD:150429978|PMID:17803050	20211008	RGD		compared to wild type and heterozygotes	
150429960	WIC-<i>Wwox<sup>lde</sup></i>/Fta		strain	DOID:9007661	Dwarfism		IAGP		D	RGD:150429974|PMID:18676360	20211008	RGD		compared to wild type and heterozygotes	
150429960	WIC-<i>Wwox<sup>lde</sup></i>/Fta		strain	DOID:9007661	Dwarfism		IAGP		D	RGD:150429978|PMID:17803050	20211008	RGD		compared to wild type and heterozygotes	
150429960	WIC-<i>Wwox<sup>lde</sup></i>/Fta		strain	DOID:9007661	Dwarfism		IAGP		D	RGD:150429979|PMID:19500159	20211008	RGD		compared to wild type and heterozygotes	
150429961	Wwox<sup>lde</sup>	WW domain-containing oxidoreductase; lde mutant	gene	DOID:1826	epilepsy		IAGP		D	RGD:150429974|PMID:18676360	20211014	RGD		compared to wild type and heterozygotes	
150429961	Wwox<sup>lde</sup>	WW domain-containing oxidoreductase; lde mutant	gene	DOID:1826	epilepsy		IAGP		D	RGD:150429978|PMID:17803050	20211014	RGD		compared to wild type and heterozygotes	
150429961	Wwox<sup>lde</sup>	WW domain-containing oxidoreductase; lde mutant	gene	DOID:1826	epilepsy		IAGP		D	RGD:150429979|PMID:19500159	20211014	RGD		compared to wild type and heterozygotes	
150429961	Wwox<sup>lde</sup>	WW domain-containing oxidoreductase; lde mutant	gene	DOID:9002563	Gait Ataxia		IAGP		D	RGD:150429978|PMID:17803050	20211014	RGD		compared to wild type and heterozygotes	
150429961	Wwox<sup>lde</sup>	WW domain-containing oxidoreductase; lde mutant	gene	DOID:9007661	Dwarfism		IAGP		D	RGD:150429974|PMID:18676360	20211014	RGD		compared to wild type and heterozygotes	
150429961	Wwox<sup>lde</sup>	WW domain-containing oxidoreductase; lde mutant	gene	DOID:9007661	Dwarfism		IAGP		D	RGD:150429978|PMID:17803050	20211014	RGD		compared to wild type and heterozygotes	
150429961	Wwox<sup>lde</sup>	WW domain-containing oxidoreductase; lde mutant	gene	DOID:9007661	Dwarfism		IAGP		D	RGD:150429979|PMID:19500159	20211014	RGD		compared to wild type and heterozygotes	
15045607	SD-Tg(Prnp-Prnp)2919		strain	DOID:5434	scrapie	induces	IMP	XCO:0000655	D	RGD:15045596|PMID:29157304	20191218	RGD			
15045608	SD-Tg(Prnp-Prnp)2922		strain	DOID:5434	scrapie	induces	IMP	XCO:0000655	D	RGD:15045596|PMID:29157304	20191218	RGD			
150519901	F344-<i>Prkar1b<sup>em2Tua</sup></i>		strain	DOID:9000495	Tremor		IMP		D	RGD:150519900|PMID:33479380	20211018	RGD			
150519903	Prkar1b<sup>em2Tua</sup>	protein kinase cAMP-dependent type I regulatory subunit beta; CRISPR/Cas9 induced mutant 2, Tua	gene	DOID:9000495	Tremor		IMP		D	RGD:150519900|PMID:33479380	20211021	RGD			
150520049	WBN-<i>Ht</i>/Kob		strain	DOID:2723	dermatitis		IAGP		D	RGD:150520053|PMID:16858425	20211025	RGD		compared to wild type	
150520049	WBN-<i>Ht</i>/Kob		strain	DOID:2723	dermatitis		IAGP		D	RGD:150520054|PMID:10889953	20211025	RGD		compared to wild type	
150520049	WBN-<i>Ht</i>/Kob		strain	DOID:2723	dermatitis		IAGP		D	RGD:150520055|PMID:16365525	20211025	RGD		compared to wild type	
150520049	WBN-<i>Ht</i>/Kob		strain	DOID:987	alopecia		IAGP		D	RGD:150520053|PMID:16858425	20211025	RGD		compared to wild type	
150520049	WBN-<i>Ht</i>/Kob		strain	DOID:987	alopecia		IAGP		D	RGD:150520054|PMID:10889953	20211025	RGD		compared to wild type	
150520185	SD-<i>Ldlr<sup>em1Dlli</sup></i>		strain	DOID:10230	aortic atherosclerosis		IMP		D	RGD:13703129|PMID:29459263	20211105	RGD			
150520185	SD-<i>Ldlr<sup>em1Dlli</sup></i>		strain	DOID:1168	familial hyperlipidemia		IMP		D	RGD:13703129|PMID:29459263	20211105	RGD			
150520185	SD-<i>Ldlr<sup>em1Dlli</sup></i>		strain	DOID:9452	steatotic liver disease		IMP		D	RGD:13703129|PMID:29459263	20211105	RGD			
150520186	SD-<i>Apoe<sup>em1Dlli</sup></i>		strain	DOID:10230	aortic atherosclerosis		IMP		D	RGD:13703129|PMID:29459263	20211105	RGD			
150520186	SD-<i>Apoe<sup>em1Dlli</sup></i>		strain	DOID:1168	familial hyperlipidemia		IMP		D	RGD:13703129|PMID:29459263	20211105	RGD			
150520186	SD-<i>Apoe<sup>em1Dlli</sup></i>		strain	DOID:9452	steatotic liver disease		IMP		D	RGD:13703129|PMID:29459263	20211105	RGD			
150520187	LE-<i>Apoe<sup>em1Dlli</sup>Ldlr<sup>em1Ldlr</sup></i>		strain	DOID:10230	aortic atherosclerosis		IMP		D	RGD:13703129|PMID:29459263	20211105	RGD			
150520187	LE-<i>Apoe<sup>em1Dlli</sup>Ldlr<sup>em1Ldlr</sup></i>		strain	DOID:1168	familial hyperlipidemia		IMP		D	RGD:13703129|PMID:29459263	20211105	RGD			
150520187	LE-<i>Apoe<sup>em1Dlli</sup>Ldlr<sup>em1Ldlr</sup></i>		strain	DOID:9452	steatotic liver disease		IMP		D	RGD:13703129|PMID:29459263	20211105	RGD			
150520189	SD-<i>Apoe<sup>em1Ejt</sup></i>		strain	DOID:13810	familial hypercholesterolemia		IMP		D	RGD:150520219|PMID:29166645	20211108	RGD			
150520190	Apoe<sup>em1Ejt</sup>	apolipoprotein E; TALEN induced mutant 1, Ejt	gene	DOID:13810	familial hypercholesterolemia		IMP		D	RGD:150520219|PMID:29166645	20211111	RGD			
150520193	Ldlr<sup>em1Dlli</sup>	low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli	gene	DOID:10230	aortic atherosclerosis		IMP		D	RGD:13703129|PMID:29459263	20211111	RGD			
150520193	Ldlr<sup>em1Dlli</sup>	low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli	gene	DOID:1168	familial hyperlipidemia		IMP		D	RGD:13703129|PMID:29459263	20211111	RGD			
150520193	Ldlr<sup>em1Dlli</sup>	low density lipoprotein receptor; CRISPR/Cas9 induced mutant 1, Dlli	gene	DOID:9452	steatotic liver disease		IMP		D	RGD:13703129|PMID:29459263	20211111	RGD			
150520205	SHR-<i>Gja8</i><sup>m1+/-Cub</sup>		strain	DOID:83	cataract		IAGP		D	RGD:2293186|PMID:18470322	20251203	RGD			
150520220	SD-<i>Ccdc39<sup>em1Jgn</sup></i>		strain	DOID:10908	hydrocephalus		IMP		D	RGD:150521527|PMID:31771992	20211109	RGD			
150520220	SD-<i>Ccdc39<sup>em1Jgn</sup></i>		strain	DOID:9009131	Ventriculomegaly		IMP		D	RGD:150521527|PMID:31771992	20211109	RGD			
150520221	SD-<i>Slco1b2<sup>em1Myliu</sup></i>		strain	DOID:9005094	Hereditary Hyperbilirubinemia		IMP		D	RGD:150521535|PMID:32528832	20211109	RGD			
150521524	Slco1b2<sup>em1Myliu</sup>	solute carrier organic anion transporter family member 1B2; CRISPR/Case9 induced mutant 1, Myliu	gene	DOID:9005094	Hereditary Hyperbilirubinemia		IMP		D	RGD:150521535|PMID:32528832	20211111	RGD			
150521525	Ccdc39<sup>em1Jgn</sup>	coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn	gene	DOID:10908	hydrocephalus		IMP		D	RGD:150521527|PMID:31771992	20211111	RGD			
150521525	Ccdc39<sup>em1Jgn</sup>	coiled-coil domain containing 39; CRISPR/Cas9 induced mutant 1, Jgn	gene	DOID:9009131	Ventriculomegaly		IMP		D	RGD:150521527|PMID:31771992	20211111	RGD			
150521538	SD-<i>Uox<sup>em1Cya</sup></i>		strain	DOID:1920	hyperuricemia		IMP		D	RGD:150521544|PMID:32368418	20211109	RGD			
150521540	Uox<sup>em1Cya</sup>	urate oxidase; CRISPR/Cas9 induced mutant1, Cya	gene	DOID:1920	hyperuricemia		IMP		D	RGD:150521544|PMID:32368418	20211111	RGD			
150521554	Cntrob<sup>hd</sup>	centrobin, centriole duplication and spindle assembly protein; hypodacty mutant	gene	DOID:0112311	male infertility due to acephalic spermatozoa		IAGP		D	RGD:150521555|PMID:19710508	20211110	RGD		DNA:insertion:intron 10 (rat)	
150521554	Cntrob<sup>hd</sup>	centrobin, centriole duplication and spindle assembly protein; hypodacty mutant	gene	DOID:12336	male infertility		IGI	RGD:727894	D	RGD:150521555|PMID:19710508	20211110	RGD			
150521599	SD-<i>Tshr<sup>em1Mlit</sup></i>		strain	DOID:0050328	congenital hypothyroidism		IMP		D	RGD:150521601|PMID:29507327	20211111	RGD			
150521599	SD-<i>Tshr<sup>em1Mlit</sup></i>		strain	DOID:9000591	Congenital Nongoitrous Hypothyroidism	treatment	IMP		D	RGD:150521601|PMID:29507327	20211111	RGD			
150521599	SD-<i>Tshr<sup>em1Mlit</sup></i>		strain	DOID:9007661	Dwarfism		IMP		D	RGD:150521601|PMID:29507327	20211111	RGD			
150521600	Tshr<sup>em1Mlit</sup>	thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit	gene	DOID:0050328	congenital hypothyroidism		IMP		D	RGD:150521601|PMID:29507327	20211118	RGD			
150521600	Tshr<sup>em1Mlit</sup>	thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit	gene	DOID:9000591	Congenital Nongoitrous Hypothyroidism	treatment	IMP		D	RGD:150521601|PMID:29507327	20211118	RGD			
150521600	Tshr<sup>em1Mlit</sup>	thyroid stimulating hormone receptor; CRISPR/Cas9 induced mutant 1, Mlit	gene	DOID:9007661	Dwarfism		IMP		D	RGD:150521601|PMID:29507327	20211118	RGD			
150521602	OFA(SD)-<i>Dsg4<sup>hr</sup></i>/Crl		strain	DOID:4535	hypotrichosis		IMP		D	RGD:150521560|PMID:15606503	20211111	RGD			
150521603	Dsg4<sup>hr</sup>	desmoglein 4; hairless mutant	gene	DOID:4535	hypotrichosis		IMP		D	RGD:150521560|PMID:15606503	20211118	RGD			
150523755	SD-<i>Ighm<sup>em1Ang</sup></i>		strain	DOID:2115	B cell deficiency		IMP		D	RGD:150523760|PMID:21038471	20211118	RGD			
150523756	Ighm<sup>em1Ang</sup>	immunoglobulin heavy constant mu; ZFN induced mutant1, Ang	gene	DOID:2115	B cell deficiency		IMP		D	RGD:150523760|PMID:21038471	20211125	RGD			
150523757	SD-<i>Ighm<sup>em2Ang</sup></i>		strain	DOID:2115	B cell deficiency		IMP		D	RGD:150523760|PMID:21038471	20211118	RGD			
150523758	Ighm<sup>em2Ang</sup>	immunoglobulin heavy constant mu; ZFN induced mutant2, Ang	gene	DOID:2115	B cell deficiency		IMP		D	RGD:150523760|PMID:21038471	20211125	RGD			
151232284	Prkdc<sup>em1Sage</sup>	protein kinase, DNA-activated, catalytic subunit; ZFN induced mutant 1, Sage	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	IMP		D	RGD:39938998|PMID:30485360	20220120	RGD			
151347605	SD-<i>Ddah1<sup>em1Ywxu</sup></i>		strain	DOID:9001820	Pulmonary Arterial Hypertension	exacerbates	IMP	XCO:0000642	D	RGD:151347602|PMID:31402164	20220128	RGD		compared to wild type	
151347606	Ddah1<sup>em1Ywxu</sup>	dimethylarginine dimethylaminohydrolase 1; CRISPR/Cas9 induced mutant 1, Ywxu	gene	DOID:9001820	Pulmonary Arterial Hypertension	exacerbates	IMP	XCO:0000642	D	RGD:151347602|PMID:31402164	20220203	RGD		compared to wild type	
151347865	Gper1<sup>em1Bj</sup>	G protein-coupled estrogen receptor 1; CRISPR/Cas 9 induced mutant 1, Bj	gene	DOID:9007204	Dysbiosis	ameliorates	IMP		D	RGD:39939000|PMID:30354811	20220210	RGD			
151356741	SD-Tg(Alb-TAg)Mlcr		strain	DOID:3213	demyelinating disease	sexual_dimorphism	IMP		D	RGD:151356742|PMID:8053496	20220211	RGD			
151356741	SD-Tg(Alb-TAg)Mlcr		strain	DOID:684	hepatocellular carcinoma		IMP		D	RGD:151356742|PMID:8053496	20220211	RGD			
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:10534	stomach cancer		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:1115	sarcoma		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:4362	cervical cancer		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1320176	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1320176	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043753
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320176	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
15203474	Haus6	HAUS augmin like complex subunit 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
152985692	WAG-<i>Cd247<sup>em9Mcwi</sup></i>		strain	DOID:9003139	Cardiac Fibrosis	ameliorates	IMP	XCO:0001792	D	RGD:632518418|PMID:36548630	20260331	RGD		associated with Radiation Nephropathy;	
152985692	WAG-<i>Cd247<sup>em9Mcwi</sup></i>		strain	DOID:9003379	Radiation Nephropathy	ameliorates	IMP		D	RGD:632518418|PMID:36548630	20260331	RGD			
152995992	CVCL_B7TS	C6rho0	cell line	DOID:3070	high grade glioma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C64069	
152998155	CVCL_C0DS	THC-253.1	cell line	DOID:684	hepatocellular carcinoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C60416	
152998157	CVCL_C0DR	THC-252.2	cell line	DOID:684	hepatocellular carcinoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C60416	
152998767	CVCL_C0PY	PC12 6c	cell line	DOID:0050892	adrenal gland pheochromocytoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C121568	
152998768	CVCL_C0PX	PC12-FR	cell line	DOID:0050892	adrenal gland pheochromocytoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C121568	
152998770	CVCL_C0PZ	PC12 cA4	cell line	DOID:0050892	adrenal gland pheochromocytoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C121568	
152998771	CVCL_C0PQ	PC12-1	cell line	DOID:0050892	adrenal gland pheochromocytoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C121568	
152998774	CVCL_C0PP	PC12.4	cell line	DOID:0050892	adrenal gland pheochromocytoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C121568	
152998775	CVCL_C0PS	PC12-16A	cell line	DOID:0050892	adrenal gland pheochromocytoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C121568	
152998777	CVCL_C0PR	PC12-15	cell line	DOID:0050892	adrenal gland pheochromocytoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C121568	
152998780	CVCL_C0PU	PC12-21	cell line	DOID:0050892	adrenal gland pheochromocytoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C121568	
152998782	CVCL_C0PT	PC12-19	cell line	DOID:0050892	adrenal gland pheochromocytoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C121568	
152998783	CVCL_C0PW	PC12-27 c7	cell line	DOID:0050892	adrenal gland pheochromocytoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C121568	
152998786	CVCL_C0PV	PC12-27	cell line	DOID:0050892	adrenal gland pheochromocytoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C121568	
152998793	CVCL_C0Q0	PC-DR-LUC	cell line	DOID:0050892	adrenal gland pheochromocytoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C121568	
152998795	CVCL_C0PA	AK-5 clone BC-8	cell line	DOID:0080915	histiocytic sarcoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C60419	
152998796	CVCL_C0PC	AK-5 clone EC-2	cell line	DOID:0080915	histiocytic sarcoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C60419	
152998797	CVCL_C0PB	AK-5 clone BE-5	cell line	DOID:0080915	histiocytic sarcoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C60419	
152998799	CVCL_C0PD	AK-5 clone FB-11	cell line	DOID:0080915	histiocytic sarcoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C60419	
152998863	CVCL_C0P9	AK-5 clone BC-7	cell line	DOID:0080915	histiocytic sarcoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C60419	
152998864	CVCL_C0P8	AK-5	cell line	DOID:0080915	histiocytic sarcoma		IEA		D	RGD:21410187	20220629	CELLOSAURUS		NCI:C60419	
1549692	Vrk3	VRK serine/threonine kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1549692	Vrk3	VRK serine/threonine kinase 3	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1558006	D	RGD:13592920	20180518	MouseDO			
1549692	Vrk3	VRK serine/threonine kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1350616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1549692	Vrk3	VRK serine/threonine kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1549692	Vrk3	VRK serine/threonine kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1350616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1549692	Vrk3	VRK serine/threonine kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1350616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1549692	Vrk3	VRK serine/threonine kinase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1549692	Vrk3	VRK serine/threonine kinase 3	gene	DOID:3275	thymoma		ISO	RGD:1350616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1549692	Vrk3	VRK serine/threonine kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549692	Vrk3	VRK serine/threonine kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1350616	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1549692	Vrk3	VRK serine/threonine kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549692	Vrk3	VRK serine/threonine kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549692	Vrk3	VRK serine/threonine kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549698	Dmac2	distal membrane arm assembly component 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1549698	Dmac2	distal membrane arm assembly component 2	gene	DOID:1115	sarcoma		ISO	RGD:1605674	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1549698	Dmac2	distal membrane arm assembly component 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1549698	Dmac2	distal membrane arm assembly component 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549698	Dmac2	distal membrane arm assembly component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549698	Dmac2	distal membrane arm assembly component 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1605674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1549698	Dmac2	distal membrane arm assembly component 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549702	Npl	N-acetylneuraminate pyruvate lyase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348386	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549702	Npl	N-acetylneuraminate pyruvate lyase	gene	DOID:10534	stomach cancer		ISO	RGD:1348386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1549702	Npl	N-acetylneuraminate pyruvate lyase	gene	DOID:1115	sarcoma		ISO	RGD:1348386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1549702	Npl	N-acetylneuraminate pyruvate lyase	gene	DOID:13580	cholestasis		ISO	RGD:1348386	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
1549702	Npl	N-acetylneuraminate pyruvate lyase	gene	DOID:2394	ovarian cancer		ISO	RGD:1348386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1549702	Npl	N-acetylneuraminate pyruvate lyase	gene	DOID:4362	cervical cancer		ISO	RGD:1348386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549702	Npl	N-acetylneuraminate pyruvate lyase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1549702	Npl	N-acetylneuraminate pyruvate lyase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549702	Npl	N-acetylneuraminate pyruvate lyase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348386	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1549702	Npl	N-acetylneuraminate pyruvate lyase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1549702	Npl	N-acetylneuraminate pyruvate lyase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:0080000	muscular disease		ISO	RGD:1353383	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:29905857
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:0110660	congenital myasthenic syndrome 12		ISO	RGD:1353383	D	RGD:7240710	20140911	OMIM			
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:0110660	congenital myasthenic syndrome 12		ISO	RGD:1353383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 12 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 12 | ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21310273|PMID:21975507|PMID:23569079|PMID:23794683|PMID:25635128|PMID:25741868|PMID:26467025|PMID:28464723|PMID:28492532|PMID:28712002|PMID:29054425|PMID:30124556|PMID:30653653|PMID:32140910|PMID:32403337|PMID:32528171|PMID:32754643|PMID:33756069|PMID:34978387|PMID:36188410|PMID:37366078|PMID:37721175|PMID:9536098
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:0110660	congenital myasthenic syndrome 12		ISS	RGD:1557517	D	RGD:13592920	20230718	MouseDO		OMIM:610542	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:0110676	congenital myasthenic syndrome 13		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 13	PMID:21310273|PMID:25741868|PMID:28492532
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:0110679	congenital myasthenic syndrome 4C		ISO	RGD:1353383	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:0110679	congenital myasthenic syndrome 4C		ISO	RGD:1353383	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	PMID:23794683|PMID:25741868|PMID:28464723|PMID:28492532|PMID:29054425|PMID:32403337|PMID:32528171
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:1168	familial hyperlipidemia		IEP		D	RGD:1624365|PMID:16555472	20070608	RGD		mRNA:increased expression:gastrocnemius	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:1324	lung cancer		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:1909	melanoma		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:2018	hyperinsulinism		IEP		D	RGD:1624365|PMID:16555472	20070608	RGD		mRNA:increased expression:gastrocnemius	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1353383	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:29905857
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1353383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome	PMID:21310273|PMID:25741868|PMID:28492532
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:423	myopathy		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:23794683|PMID:25741868|PMID:28464723|PMID:28492532|PMID:29054425|PMID:32403337|PMID:32528171
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:630	genetic disease		ISO	RGD:1353383	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1353383	D	RGD:2313353|PMID:9519709	20090918	RGD			
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:2313355|PMID:7589852	20090918	RGD		protein:decreased expression:epididymal fat pad, liver, skeletal muscle	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1353383	D	RGD:1625423|PMID:11118009	20070608	RGD			
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1353383	D	RGD:1625423|PMID:11118009	20070608	RGD			
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1353383	D	RGD:2313352|PMID:17574229	20090918	RGD			
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:9970	obesity		ISO	RGD:1353383	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
1549703	Gfpt1	glutamine fructose-6-phosphate transaminase 1	gene	DOID:9970	obesity		ISO	RGD:1353383	D	RGD:1625423|PMID:11118009	20070608	RGD			
1549705	Cbx3	chromobox 3	gene	DOID:10283	prostate cancer		ISO	RGD:1352044	D	RGD:9586744|PMID:18436254	20141006	RGD		protein:increased expression:prostate:	
1549705	Cbx3	chromobox 3	gene	DOID:10534	stomach cancer		ISO	RGD:1352044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1549705	Cbx3	chromobox 3	gene	DOID:1324	lung cancer		ISO	RGD:1352044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1549705	Cbx3	chromobox 3	gene	DOID:3275	thymoma		ISO	RGD:1352044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1549705	Cbx3	chromobox 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1549705	Cbx3	chromobox 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549705	Cbx3	chromobox 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352044	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1549705	Cbx3	chromobox 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549705	Cbx3	chromobox 3	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1352044	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	
1549705	Cbx3	chromobox 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549705	Cbx3	chromobox 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1352044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1549711	Tmem43	transmembrane protein 43	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1348900	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC	PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:21214875|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23400628|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25343256|PMID:25741868|PMID:26467025|PMID:26513349|PMID:27153395|PMID:28471438|PMID:28491673|PMID:28492532|PMID:29040414|PMID:29980933|PMID:30700137
1549711	Tmem43	transmembrane protein 43	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1348900	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy	PMID:25741868
1549711	Tmem43	transmembrane protein 43	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1348900	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:17576681|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27153395|PMID:27532257|PMID:28166811|PMID:28301460|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29247119|PMID:29980933|PMID:30206291|PMID:30700137|PMID:31333075|PMID:31568572|PMID:9536098
1549711	Tmem43	transmembrane protein 43	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1348900	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:17576681|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26214305|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27532257|PMID:28087566|PMID:28166811|PMID:28301460|PMID:28341588|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29192238|PMID:29311375|PMID:29476165|PMID:29980933|PMID:30206291|PMID:30276209|PMID:30700137|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31376648|PMID:31568572|PMID:31847883|PMID:32840935|PMID:33552729|PMID:33652588|PMID:33968641|PMID:34050020|PMID:9536098
1549711	Tmem43	transmembrane protein 43	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1348900	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:16199547|PMID:17576681|PMID:18230648|PMID:18313022|PMID:21214875|PMID:21391237|PMID:21636032|PMID:23396983|PMID:23555315|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25741868|PMID:26467025|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27532257|PMID:28301460|PMID:28341588|PMID:28492532|PMID:28750076|PMID:29192238|PMID:29247119|PMID:29311375|PMID:29476165|PMID:30206291|PMID:30847666|PMID:30975432|PMID:31376648|PMID:31402444|PMID:31604776|PMID:31760239|PMID:31847883|PMID:32840935|PMID:32880476|PMID:33087929|PMID:33954932|PMID:33968641|PMID:35352813|PMID:35929463|PMID:35947370|PMID:37477868|PMID:38691546|PMID:9536098
1549711	Tmem43	transmembrane protein 43	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1348900	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:16199547|PMID:17576681|PMID:18230648|PMID:18313022|PMID:18414213|PMID:21214875|PMID:21391237|PMID:21636032|PMID:23161701|PMID:23396983|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:24598986|PMID:25214167|PMID:25333069|PMID:25343256|PMID:25351510|PMID:25741868|PMID:26332594|PMID:26467025|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27301361|PMID:27532257|PMID:28301460|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28750076|PMID:29192238|PMID:29247119|PMID:29311375|PMID:29476165|PMID:30206291|PMID:30847666|PMID:30975432|PMID:31376648|PMID:31604776|PMID:31760239|PMID:31847883|PMID:32840935|PMID:32880476|PMID:33087929|PMID:33954932|PMID:33968641|PMID:34486814|PMID:35352813|PMID:35929463|PMID:35947370|PMID:37477868|PMID:37937776|PMID:38489124|PMID:38691546|PMID:9536098
1549711	Tmem43	transmembrane protein 43	gene	DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2		ISO	RGD:1348900	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B	PMID:25741868|PMID:26467025|PMID:28492532
1549711	Tmem43	transmembrane protein 43	gene	DOID:0070252	autosomal dominant Emery-Dreifuss muscular dystrophy 7		ISO	RGD:1348900	D	RGD:7240710	20140911	OMIM			
1549711	Tmem43	transmembrane protein 43	gene	DOID:0070252	autosomal dominant Emery-Dreifuss muscular dystrophy 7		ISO	RGD:1348900	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, AD | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant	PMID:18230648|PMID:18313022|PMID:18414213|PMID:21214875|PMID:21391237|PMID:21636032|PMID:23161701|PMID:23396983|PMID:23812740|PMID:23861362|PMID:24033266|PMID:25333069|PMID:25343256|PMID:25351510|PMID:25741868|PMID:26332594|PMID:26467025|PMID:26743238|PMID:27153395|PMID:27301361|PMID:28301460|PMID:28492532|PMID:29311375|PMID:30311943|PMID:30847666|PMID:32880476|PMID:33954932|PMID:34486814|PMID:35352813|PMID:35929463|PMID:35947370|PMID:37477868|PMID:37937776|PMID:38489124|PMID:38691546
1549711	Tmem43	transmembrane protein 43	gene	DOID:0110074	arrhythmogenic right ventricular dysplasia 5		ISO	RGD:1348900	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1549711	Tmem43	transmembrane protein 43	gene	DOID:0110074	arrhythmogenic right ventricular dysplasia 5		ISO	RGD:1348900	D	RGD:7240710	20130221	OMIM			
1549711	Tmem43	transmembrane protein 43	gene	DOID:0110074	arrhythmogenic right ventricular dysplasia 5		ISO	RGD:1348900	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 5	PMID:16199547|PMID:17576681|PMID:18230648|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22177269|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23299917|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:24598986|PMID:25214167|PMID:25333069|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26214305|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27301361|PMID:27332903|PMID:27532257|PMID:28008423|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29192238|PMID:29247119|PMID:29311375|PMID:29447731|PMID:29476165|PMID:29980933|PMID:30206291|PMID:30276209|PMID:30311943|PMID:30471092|PMID:30615648|PMID:30700137|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31376648|PMID:31568572|PMID:31604776|PMID:31760239|PMID:31847883|PMID:32840935|PMID:32880476|PMID:33087929|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33968641|PMID:34050020|PMID:35063694|PMID:36076925|PMID:36293497|PMID:37477868|PMID:37937776|PMID:9536098
1549711	Tmem43	transmembrane protein 43	gene	DOID:0110074	arrhythmogenic right ventricular dysplasia 5		ISO	RGD:1348900	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, type 5	PMID:16199547|PMID:17576681|PMID:18230648|PMID:18313022|PMID:18414213|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22177269|PMID:23161701|PMID:23396983|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25214167|PMID:25333069|PMID:25343256|PMID:25351510|PMID:25741868|PMID:26332594|PMID:26467025|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27301361|PMID:27332903|PMID:27532257|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28750076|PMID:29192238|PMID:29247119|PMID:29311375|PMID:29447731|PMID:30206291|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31604776|PMID:31760239|PMID:32880476|PMID:33954932|PMID:33968641|PMID:34486814|PMID:35352813|PMID:35929463|PMID:35947370|PMID:36008935|PMID:36076925|PMID:36293497|PMID:37477868|PMID:37937776|PMID:38489124|PMID:38691546|PMID:38813989|PMID:9536098
1549711	Tmem43	transmembrane protein 43	gene	DOID:0112373	autosomal dominant auditory neuropathy 3		ISO	RGD:1348900	D	RGD:7240710	20220427	OMIM			
1549711	Tmem43	transmembrane protein 43	gene	DOID:0112373	autosomal dominant auditory neuropathy 3		ISO	RGD:1348900	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3	PMID:18230648|PMID:21214875|PMID:21636032|PMID:23161701|PMID:23396983|PMID:23812740|PMID:23861362|PMID:24033266|PMID:25333069|PMID:25343256|PMID:25351510|PMID:25741868|PMID:26332594|PMID:26467025|PMID:26743238|PMID:27153395|PMID:27301361|PMID:28301460|PMID:28492532|PMID:29311375|PMID:30847666|PMID:32880476|PMID:33954932|PMID:34050020|PMID:35352813|PMID:35929463|PMID:35947370|PMID:37477868|PMID:37937776|PMID:38691546
1549711	Tmem43	transmembrane protein 43	gene	DOID:1115	sarcoma		ISO	RGD:1348900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1549711	Tmem43	transmembrane protein 43	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1348900	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1549711	Tmem43	transmembrane protein 43	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1348900	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy	PMID:25741868|PMID:26467025|PMID:28492532
1549711	Tmem43	transmembrane protein 43	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1348900	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
1549711	Tmem43	transmembrane protein 43	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1348900	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16783378|PMID:18313022|PMID:19467449|PMID:20010364|PMID:20301718|PMID:21214875|PMID:22458570|PMID:22725725|PMID:23671136|PMID:23810883|PMID:23812740|PMID:24125834|PMID:24598986|PMID:25343256|PMID:25741868|PMID:26513349|PMID:28491673|PMID:28492532|PMID:29040414|PMID:29980933|PMID:30700137
1549711	Tmem43	transmembrane protein 43	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1348900	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:28492532
1549711	Tmem43	transmembrane protein 43	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1549711	Tmem43	transmembrane protein 43	gene	DOID:2843	long QT syndrome		ISO	RGD:1348900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25343256|PMID:25741868|PMID:28492532|PMID:33954932|PMID:35947370
1549711	Tmem43	transmembrane protein 43	gene	DOID:423	myopathy		ISO	RGD:1348900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:26467025|PMID:28492532
1549711	Tmem43	transmembrane protein 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549711	Tmem43	transmembrane protein 43	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1348900	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:37477868
1549711	Tmem43	transmembrane protein 43	gene	DOID:9000590	Dyspnea		ISO	RGD:1348900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25741868|PMID:28492532
1549711	Tmem43	transmembrane protein 43	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348900	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1549711	Tmem43	transmembrane protein 43	gene	DOID:9003674	Chest Pain		ISO	RGD:1348900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chest pain	PMID:25741868|PMID:28492532
1549711	Tmem43	transmembrane protein 43	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:1348900	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20435227
1549711	Tmem43	transmembrane protein 43	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:1115	sarcoma		ISO	RGD:1348568	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:1324	lung cancer		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:4362	cervical cancer		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348568	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1348568	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:6039	uveal melanoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549712	Ddx18	DEAD-box helicase 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1549717	Ces5a	carboxylesterase 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1549717	Ces5a	carboxylesterase 5A	gene	DOID:0060058	lymphoma		ISO	RGD:1606422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1549717	Ces5a	carboxylesterase 5A	gene	DOID:1909	melanoma		ISO	RGD:1606422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1549717	Ces5a	carboxylesterase 5A	gene	DOID:4362	cervical cancer		ISO	RGD:1606422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549717	Ces5a	carboxylesterase 5A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1549718	Mns1	meiosis-specific nuclear structural 1	gene	DOID:0051023	visceral heterotaxy 9		ISO	RGD:1605067	D	RGD:7240710	20200812	OMIM			
1549718	Mns1	meiosis-specific nuclear structural 1	gene	DOID:0051023	visceral heterotaxy 9		ISO	RGD:1605067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility	PMID:25741868
1549718	Mns1	meiosis-specific nuclear structural 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1549718	Mns1	meiosis-specific nuclear structural 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0070111	Niemann-Pick disease type A		ISO	RGD:1349414	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0070111	Niemann-Pick disease type A		ISO	RGD:1349414	D	RGD:7240710	20130221	OMIM			
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0070111	Niemann-Pick disease type A		ISO	RGD:1349414	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, TYPE A | ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis	PMID:10464620|PMID:12369017|PMID:12556236|PMID:12607113|PMID:12694237|PMID:12712061|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15612058|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16264060|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17576681|PMID:17876723|PMID:18052040|PMID:18625664|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:20111001|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21228398|PMID:21454466|PMID:21621718|PMID:22367733|PMID:22613662|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430512|PMID:23430884|PMID:23430949|PMID:23618813|PMID:23724191|PMID:23871123|PMID:24033266|PMID:24448499|PMID:24643943|PMID:24718843|PMID:24767253|PMID:25144372|PMID:25301364|PMID:25741868|PMID:25811928|PMID:25834946|PMID:25920558|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26084044|PMID:26169295|PMID:26169695|PMID:26377108|PMID:2649910|PMID:26499107|PMID:26550340|PMID:26790753|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27243974|PMID:27338287|PMID:27349982|PMID:27435900|PMID:27659707|PMID:27725636|PMID:27865842|PMID:27884455|PMID:28259515|PMID:28475290|PMID:28492532|PMID:28590786|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29485843|PMID:29556840|PMID:29966168|PMID:30153451|PMID:30788890|PMID:30795770|PMID:30912297|PMID:31037088|PMID:31122880|PMID:31139477|PMID:31160058|PMID:31576605|PMID:31941852|PMID:31965297|PMID:31980526|PMID:32005694|PMID:32036093|PMID:32071839|PMID:32280632|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32778503|PMID:32860008|PMID:32870915|PMID:33083013|PMID:33100332|PMID:33333704|PMID:33340101|PMID:33675270|PMID:33763395|PMID:33925997|PMID:33971920|PMID:34273913|PMID:34426522|PMID:34554397|PMID:34660203|PMID:34768550|PMID:34867278|PMID:35262230|PMID:35330074|PMID:35342016|PMID:35534800|PMID:35614200|PMID:35747619|PMID:35883096|PMID:36046391|PMID:36195244|PMID:36333862|PMID:36687457|PMID:36779112|PMID:36873248|PMID:36907956|PMID:36964991|PMID:37347058|PMID:37597066|PMID:38137339|PMID:38153678|PMID:38610036|PMID:38730490|PMID:38739391|PMID:38782304|PMID:38826802|PMID:38866761|PMID:38933898|PMID:38992987|PMID:39177062|PMID:39507854|PMID:40106870|PMID:40218154|PMID:40343567|PMID:7762557|PMID:8053910|PMID:8225311|PMID:8401540|PMID:8407868|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9042807|PMID:9266408|PMID:9536098
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0070112	Niemann-Pick disease type B		ISO	RGD:1349414	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0070112	Niemann-Pick disease type B		ISO	RGD:1349414	D	RGD:7240710	20130221	OMIM			
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0070112	Niemann-Pick disease type B		ISO	RGD:1349414	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, TYPE B | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis	PMID:12369017|PMID:12556236|PMID:12607113|PMID:12712061|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16264060|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17576681|PMID:17876723|PMID:18052040|PMID:18625664|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21228398|PMID:21454466|PMID:21621718|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430512|PMID:23430884|PMID:23430949|PMID:23618813|PMID:23871123|PMID:24033266|PMID:24448499|PMID:24718843|PMID:24767253|PMID:25144372|PMID:25741868|PMID:25834946|PMID:25920558|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26084044|PMID:26169295|PMID:2649910|PMID:26499107|PMID:26790753|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27243974|PMID:27338287|PMID:27349982|PMID:27435900|PMID:27659707|PMID:27725636|PMID:27884455|PMID:28492532|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29485843|PMID:29966168|PMID:30153451|PMID:30788890|PMID:30795770|PMID:31122880|PMID:31139477|PMID:31160058|PMID:31576605|PMID:31941852|PMID:31965297|PMID:31980526|PMID:32005694|PMID:32071839|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32778503|PMID:32860008|PMID:32870915|PMID:33083013|PMID:33100332|PMID:33333704|PMID:33340101|PMID:33675270|PMID:33763395|PMID:33925997|PMID:33971920|PMID:34273913|PMID:34426522|PMID:34554397|PMID:34768550|PMID:34867278|PMID:35262230|PMID:35330074|PMID:35534800|PMID:35747619|PMID:35883096|PMID:36046391|PMID:36333862|PMID:36687457|PMID:36779112|PMID:36873248|PMID:36964991|PMID:37347058|PMID:37597066|PMID:38137339|PMID:38610036|PMID:38730490|PMID:38739391|PMID:38782304|PMID:38826802|PMID:38866761|PMID:38933898|PMID:38992987|PMID:39177062|PMID:39507854|PMID:40106870|PMID:40218154|PMID:7762557|PMID:8053910|PMID:8407868|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9042807|PMID:9266408|PMID:9536098
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0070113	Niemann-Pick disease type C1		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurovisceral storage disease with vertical supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Niemann-Pick disease, type C1	PMID:12369017|PMID:15221801|PMID:22796693|PMID:23188845|PMID:25741868|PMID:26499107|PMID:27243974|PMID:27338287|PMID:28492532|PMID:31139477|PMID:37597066
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:0110729	neuronal ceroid lipofuscinosis 6A		ISO	RGD:1349414	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A	PMID:12369017|PMID:15221801|PMID:15234149|PMID:15241805|PMID:19405096|PMID:23252888|PMID:23430884|PMID:24767253|PMID:25741868|PMID:26499107|PMID:28492532
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1349414	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:15877209|PMID:23356216|PMID:25741868|PMID:28492532
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:10762	portal hypertension		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Portal hypertension	PMID:1618760|PMID:25741868|PMID:25834946|PMID:26049896|PMID:2649910|PMID:27338287|PMID:28492532|PMID:34273913|PMID:8693491
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:14504	Niemann-Pick disease		ISO	RGD:1349414	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12631268
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:14504	Niemann-Pick disease		ISO	RGD:1349414	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease | ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS | ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY | ClinVar Annotator: match by term: Sphingomyelinase deficiency | ClinVar Annotator: match by term: acid sphingomyelinase deficiency	PMID:12369017|PMID:12556236|PMID:12607113|PMID:12712061|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17576681|PMID:17876723|PMID:18052040|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21228398|PMID:21454466|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430884|PMID:23430949|PMID:23618813|PMID:23871123|PMID:24033266|PMID:24767253|PMID:25144372|PMID:25741868|PMID:25834946|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26169295|PMID:2649910|PMID:26499107|PMID:26851525|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27338287|PMID:27349982|PMID:27659707|PMID:27725636|PMID:28492532|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:30788890|PMID:30795770|PMID:31122880|PMID:31139477|PMID:31160058|PMID:31576605|PMID:31941852|PMID:31965297|PMID:31980526|PMID:32071839|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32870915|PMID:33083013|PMID:33100332|PMID:33333704|PMID:33675270|PMID:33763395|PMID:33971920|PMID:34273913|PMID:34554397|PMID:34867278|PMID:35747619|PMID:36046391|PMID:36333862|PMID:36779112|PMID:36873248|PMID:37347058|PMID:37597066|PMID:38730490|PMID:38739391|PMID:38992987|PMID:39507854|PMID:40106870|PMID:7762557|PMID:8053910|PMID:8407868|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9266408|PMID:9536098
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:14504	Niemann-Pick disease		ISS	RGD:1557572	D	RGD:13592920	20230718	MouseDO			
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:14504	Niemann-Pick disease	susceptibility	ISO	RGD:1349414	D	RGD:1601336|PMID:12556236	20070417	RGD		Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple	
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:15221801|PMID:15241805|PMID:16010684|PMID:22818240|PMID:25741868|PMID:27338287|PMID:27725636|PMID:28492532|PMID:31941852|PMID:33083013|PMID:33971920|PMID:34273913
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:1909	melanoma		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:2355	anemia		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:12369017|PMID:12607113|PMID:15221801|PMID:15241805|PMID:16010684|PMID:17011332|PMID:19405096|PMID:22796693|PMID:22818240|PMID:23415435|PMID:25741868|PMID:26499107|PMID:27338287|PMID:27725636|PMID:28492532|PMID:28801223|PMID:31576605|PMID:31941852|PMID:33083013|PMID:33675270|PMID:33971920|PMID:34273913|PMID:8680412
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:3211	lysosomal storage disease		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lysosomal storage disease	PMID:15877209|PMID:17011332|PMID:19405096|PMID:23252888|PMID:25741868|PMID:27725636|PMID:28492532|PMID:32870915|PMID:38992987|PMID:39507854
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:4702	mongolian spot		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:12369017|PMID:16434659|PMID:17876723|PMID:18815062|PMID:25741868|PMID:26981555|PMID:27338287|PMID:28492532|PMID:28600779|PMID:36333862
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:552	pneumonia		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:22796693|PMID:23188845|PMID:25741868|PMID:27338287|PMID:28492532|PMID:31139477|PMID:37597066
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:557	kidney disease		ISO	RGD:1349414	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: therapeutic	PMID:26980705
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:630	genetic disease		ISO	RGD:1349414	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14681755|PMID:15234149|PMID:15241805|PMID:15877209|PMID:17011332|PMID:23252888|PMID:23412609|PMID:23420949|PMID:23430949|PMID:25741868|PMID:25933391|PMID:26499107|PMID:26981555|PMID:28492532|PMID:28703315|PMID:34273913|PMID:36046391|PMID:37347058|PMID:9266408
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:893	Wilson disease	severity	IDA		D	RGD:1601345|PMID:17259995	20070417	RGD			
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9000781	Cyanosis		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cyanosis	PMID:25741868|PMID:27338287|PMID:28492532|PMID:34273913|PMID:39507854
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1349414	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:12369017|PMID:15221801|PMID:15241805|PMID:16010684|PMID:19405096|PMID:22818240|PMID:25741868|PMID:27338287|PMID:27725636|PMID:28492532|PMID:28801223|PMID:31576605|PMID:31941852|PMID:33083013|PMID:33675270|PMID:33971920|PMID:34273913
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9001740	Blue Nevus		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blue nevus	PMID:15221801|PMID:19411774|PMID:25741868|PMID:28492532|PMID:33675270|PMID:8664904
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:12369017|PMID:16434659|PMID:17876723|PMID:18815062|PMID:25741868|PMID:26981555|PMID:27338287|PMID:28492532|PMID:28600779|PMID:34273913|PMID:36333862|PMID:39507854
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1349414	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:12369017|PMID:15545621|PMID:17011332|PMID:19050888|PMID:23871123|PMID:24033266|PMID:25741868|PMID:27238910|PMID:28492532|PMID:31980526|PMID:33333704|PMID:33675270|PMID:34867278|PMID:38739391
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:22796693|PMID:23188845|PMID:25741868|PMID:27338287|PMID:28492532|PMID:31139477|PMID:37597066
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1349414	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24951586
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9004942	Niemann-Pick Disease, Intermediate, Protracted Neurovisceral		ISO	RGD:1349414	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral	PMID:14681755|PMID:15234149|PMID:15241805|PMID:15877209|PMID:17011332|PMID:17360762|PMID:23412609|PMID:23420949|PMID:23430949|PMID:25741868|PMID:26981555|PMID:28492532|PMID:28703315|PMID:31160058|PMID:36046391|PMID:37347058|PMID:7762557|PMID:9266408
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:22796693|PMID:23188845|PMID:25741868|PMID:27338287|PMID:28492532|PMID:31139477|PMID:34273913|PMID:37597066|PMID:39507854
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:12369017|PMID:15221801|PMID:16434659|PMID:17876723|PMID:18815062|PMID:19411774|PMID:25741868|PMID:26981555|PMID:27338287|PMID:28492532|PMID:28600779|PMID:33675270|PMID:36333862|PMID:8664904
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:12369017|PMID:15221801|PMID:16434659|PMID:17876723|PMID:18815062|PMID:19411774|PMID:22796693|PMID:23188845|PMID:25741868|PMID:26981555|PMID:27338287|PMID:28492532|PMID:28600779|PMID:31139477|PMID:33675270|PMID:36333862|PMID:37597066|PMID:8664904
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		IDA		D	RGD:1601347|PMID:14983401	20070417	RGD		protein:decreased expression:gastrocnemius	
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:27338287|PMID:28492532|PMID:34273913
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1349414	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12369017|PMID:15221801|PMID:15241805|PMID:15545621|PMID:16010684|PMID:1618760|PMID:17011332|PMID:19050888|PMID:22818240|PMID:23871123|PMID:24033266|PMID:25741868|PMID:25834946|PMID:26049896|PMID:2649910|PMID:27238910|PMID:27338287|PMID:27725636|PMID:28492532|PMID:31941852|PMID:31980526|PMID:33083013|PMID:33333704|PMID:33675270|PMID:33971920|PMID:34273913|PMID:34867278|PMID:38739391|PMID:8693491
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
1549719	Smpd1	sphingomyelin phosphodiesterase 1	gene	DOID:9008811	Tachypnea		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868|PMID:27338287|PMID:28492532|PMID:34273913|PMID:39507854
1549724	Tceal1	transcription elongation factor A like 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1352968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1549724	Tceal1	transcription elongation factor A like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549724	Tceal1	transcription elongation factor A like 1	gene	DOID:630	genetic disease		ISO	RGD:1352968	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1549724	Tceal1	transcription elongation factor A like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549724	Tceal1	transcription elongation factor A like 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1352968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1549724	Tceal1	transcription elongation factor A like 1	gene	DOID:9008698	NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED		ISO	RGD:1352968	D	RGD:7240710	20230505	OMIM			
1549724	Tceal1	transcription elongation factor A like 1	gene	DOID:9008698	NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED		ISO	RGD:1352968	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: HIJAZI-REIS SYNDROME | ClinVar Annotator: match by term: Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked	PMID:25741868|PMID:36368327
1549725	Apool	apolipoprotein O-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549725	Apool	apolipoprotein O-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1549725	Apool	apolipoprotein O-like	gene	DOID:10534	stomach cancer		ISO	RGD:1351827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1549725	Apool	apolipoprotein O-like	gene	DOID:12849	autistic disorder		ISO	RGD:14351525	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:30208311
1549725	Apool	apolipoprotein O-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549725	Apool	apolipoprotein O-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549726	Zpbp2	zona pellucida binding protein 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1603918	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1549726	Zpbp2	zona pellucida binding protein 2	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1603918	D	RGD:629006618|PMID:23622005	20251107	RGD		DNA:SNP:intron:rs12150079	
1549726	Zpbp2	zona pellucida binding protein 2	gene	DOID:0080815	childhood-onset asthma	no_association	ISO	RGD:1603918	D	RGD:629006618|PMID:23622005	20251107	RGD		DNA:SNPs: :multiple	
1549726	Zpbp2	zona pellucida binding protein 2	gene	DOID:2841	asthma		ISO	RGD:1558392	D	RGD:629006615|PMID:29709669	20251107	RGD		mRNA:increased expression:lung	
1549726	Zpbp2	zona pellucida binding protein 2	gene	DOID:2841	asthma		ISO	RGD:1603918	D	RGD:629006616|PMID:23546690	20251107	RGD		DNA:SNPs: :rs12150079, rs11557467	
1549726	Zpbp2	zona pellucida binding protein 2	gene	DOID:2841	asthma		ISO	RGD:1603918	D	RGD:629006617|PMID:19732864	20251107	RGD		DNA:SNPs, haplotypes: :multiple	
1549726	Zpbp2	zona pellucida binding protein 2	gene	DOID:2841	asthma		ISO	RGD:1603918	D	RGD:629006620|PMID:22626592	20251107	RGD		DNA:SNPs: :rs11557467, rs12936231, rs1054609	
1549726	Zpbp2	zona pellucida binding protein 2	gene	DOID:2841	asthma	no_association	ISO	RGD:1603918	D	RGD:629006620|PMID:22626592	20251107	RGD		DNA:SNP: :rs12150079, rs35591738	
1549726	Zpbp2	zona pellucida binding protein 2	gene	DOID:2841	asthma	sexual_dimorphism	ISO	RGD:1603918	D	RGD:11575036|PMID:26671913	20251107	RGD		DNA:methylation:promoter	
1549726	Zpbp2	zona pellucida binding protein 2	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:1603918	D	RGD:629006623|PMID:33083119	20251107	RGD			
1549726	Zpbp2	zona pellucida binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549726	Zpbp2	zona pellucida binding protein 2	gene	DOID:9009397	adult-onset asthma		ISO	RGD:1603918	D	RGD:629006619|PMID:21985515	20251107	RGD		DNA:SNPs: :rs12936231, rs11557467	
1549726	Zpbp2	zona pellucida binding protein 2	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:1603918	D	RGD:629006622|PMID:33179336	20251107	RGD		mRNA:increased expression:small intestine	
1549728	Ugt1a3	UDP glycosyltransferase 1 family, polypeptide A3	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1346830	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Leber's amaurosis	PMID:10975608|PMID:12105841|PMID:12208142|PMID:15304120|PMID:16610035|PMID:21726413|PMID:25741868|PMID:25993113|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:30669781|PMID:31450232|PMID:31737051|PMID:31858773|PMID:32165824|PMID:33083013|PMID:34953813|PMID:35257483|PMID:35426266|PMID:35436954|PMID:35781232|PMID:35942604|PMID:36274106|PMID:36350824|PMID:36574877|PMID:37671043|PMID:38279097
1549728	Ugt1a3	UDP glycosyltransferase 1 family, polypeptide A3	gene	DOID:2739	Gilbert syndrome		ISO	RGD:1346830	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE	PMID:10412811|PMID:10472535|PMID:10975608|PMID:11013440|PMID:11061796|PMID:11156391|PMID:11182932|PMID:11316168|PMID:11370628|PMID:11906189|PMID:11968090|PMID:11983459|PMID:12105841|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15007088|PMID:15304109|PMID:15304120|PMID:15378351|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:16952560|PMID:17510208|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19397531|PMID:19414484|PMID:19450125|PMID:19830808|PMID:20530282|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:21726413|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:22992668|PMID:23014115|PMID:23089802|PMID:23099197|PMID:23290513|PMID:23386248|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25869015|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:27845419|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:29607327|PMID:30544479|PMID:30669781|PMID:31145902|PMID:31450232|PMID:31467903|PMID:31737051|PMID:31858773|PMID:32860008|PMID:33083013|PMID:34953813|PMID:35257483|PMID:35426266|PMID:35436954|PMID:35781232|PMID:35942604|PMID:36274106|PMID:36350824|PMID:36574877|PMID:37671043|PMID:38279097|PMID:6480579|PMID:7715297|PMID:7906695|PMID:7989045|PMID:7989595|PMID:805737|PMID:8102509|PMID:8276413|PMID:8514037|PMID:8528206|PMID:8706880|PMID:9028453|PMID:9435989|PMID:9497253|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972
1549728	Ugt1a3	UDP glycosyltransferase 1 family, polypeptide A3	gene	DOID:3803	Crigler-Najjar syndrome		ISO	RGD:1346830	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1	PMID:11061796|PMID:11182932|PMID:11968090|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19217809|PMID:19325249|PMID:19830808|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24390994|PMID:24749086|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31737051|PMID:7906695|PMID:7936809|PMID:8102509|PMID:8276413|PMID:8514037|PMID:9039987|PMID:9497253|PMID:9621515|PMID:9630669
1549729	Magix	MAGI family member, X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549729	Magix	MAGI family member, X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1605344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1549729	Magix	MAGI family member, X-linked	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1549729	Magix	MAGI family member, X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549729	Magix	MAGI family member, X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549729	Magix	MAGI family member, X-linked	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549730	Serpinb9	serpin family B member 9	gene	DOID:9001341	Chloracne		ISO	RGD:1318666	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
1549730	Serpinb9	serpin family B member 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318666	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1549737	Ciapin1	cytokine induced apoptosis inhibitor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549737	Ciapin1	cytokine induced apoptosis inhibitor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1549737	Ciapin1	cytokine induced apoptosis inhibitor 1	gene	DOID:1324	lung cancer		ISO	RGD:1346049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1549737	Ciapin1	cytokine induced apoptosis inhibitor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1549737	Ciapin1	cytokine induced apoptosis inhibitor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1549737	Ciapin1	cytokine induced apoptosis inhibitor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549737	Ciapin1	cytokine induced apoptosis inhibitor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549737	Ciapin1	cytokine induced apoptosis inhibitor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1343083	D	RGD:155882460|PMID:31883306	20230119	RGD		DNA:SNPs:nonsense mutations, splice-site mutation:CDS, intron:c.457C>T, c.550C>T, c.1171+1G>A (human)	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:0050902	medulloblastoma		ISO	RGD:1343083	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Medulloblastoma	PMID:25741868|PMID:26822237
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:0060058	lymphoma		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:0060135	apraxia		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:0060249	scoliosis		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:0060320	inguinal hernia		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:0060817	syndromic X-linked intellectual disability 34		ISO	RGD:1343083	D	RGD:7240710	20190315	OMIM			
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:0060817	syndromic X-linked intellectual disability 34		ISO	RGD:1343083	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 34 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic 34 | ClinVar Annotator: match by term: NONO-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34	PMID:25741868|PMID:26571461|PMID:28492532|PMID:31883306|PMID:32238909
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:0080031	fibrous dysplasia		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fibrous dysplasia	PMID:25741868
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:0080685	aortic dissection		ISO	RGD:1343083	D	RGD:155882452|PMID:24720418	20230118	RGD		mRNA, protein:decreased expression:aorta wall (human)	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:1059	intellectual disability		ISO	RGD:1343083	D	RGD:11058183|PMID:26571461	20230120	RGD		DNA:nonsense mutation, silent mutation, frameshift mutation:CDS:p.R365*, p.A377A, p.N466Kfs*13 (human)	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:1059	intellectual disability		ISO	RGD:1343083	D	RGD:155900764|PMID:36653413	20230213	RGD		DNA:missense mutation:CDS:p.P459A (human)	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:1059	intellectual disability		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, borderline	PMID:25741868
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:10603	glucose intolerance		ISO	RGD:1343083	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29358041
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:10892	hypospadias		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:10907	microcephaly		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:11383	cryptorchidism		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:1324	lung cancer		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:13934	facial paralysis		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial palsy	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:14289	Ebstein anomaly		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ebstein anomaly	PMID:25741868
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:1682	congenital heart disease		ISO	RGD:1343083	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: congenital heart defects	PMID:25741868
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:1909	melanoma		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:1936	atherosclerosis		ISO	RGD:1343083	D	RGD:155900763|PMID:33626912	20230213	RGD		mRNA, protein:increased expression:coronary artery (human)	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:1936	atherosclerosis	severity	ISO	RGD:1557128	D	RGD:155882449|PMID:29673854	20230118	RGD			
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:2030	anxiety disorder		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:2154	nephroblastoma		ISO	RGD:1343083	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1557128	D	RGD:155883175|PMID:29426953	20230206	RGD		protein:altered localization:cerebral cortex (mouse)	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:2377	multiple sclerosis		ISO	RGD:1343083	D	RGD:156420155|PMID:29100048	20230217	RGD		mRNA:altered expression:peripheral blood mononuclear cell (human)	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:3086	gingival overgrowth		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:5041	esophageal cancer		ISO	RGD:1343083	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:1557128	D	RGD:155882458|PMID:35247074	20230119	RGD			
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:630	genetic disease		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22416126|PMID:25741868|PMID:26571461|PMID:28492532|PMID:31883306
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: pulmonary stenosis	PMID:31883306
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:7693	abdominal aortic aneurysm	ameliorates	ISO	RGD:1557128	D	RGD:155882451|PMID:31512366	20230118	RGD			
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cognitive impairment	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9003132	Sialorrhea		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:1557128	D	RGD:155882450|PMID:31634484	20230118	RGD			
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9003816	Macrocephaly		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9005077	Joint Instability		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9005616	Micrognathism		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9006182	Carotid Artery Injuries	ameliorates	ISO	RGD:1557128	D	RGD:155900763|PMID:33626912	20230213	RGD			
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9006385	Congenital Heart Defects, X-Linked		ISO	RGD:1343083	D	RGD:155882461|PMID:27550220	20230120	RGD		DNA:nonsense mutation, frameshift mutation, deletion:CDS, exons:p.R365*, p.N466Kfs*13,  (human)	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9007573	Flatfoot		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343083	D	RGD:155900764|PMID:36653413	20230213	RGD		DNA:missense mutation:CDS:p.P459A (human)	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:930	orbital disease		ISO	RGD:1343083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868|PMID:26571461
1549738	Nono	non-POU domain containing, octamer-binding	gene	DOID:9538	multiple myeloma	exacerbates	ISO	RGD:1343083	D	RGD:155900765|PMID:32410217	20230213	RGD		mRNA:increased expression: (human)	
1549739	Armcx3	armadillo repeat containing, X-linked 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549739	Armcx3	armadillo repeat containing, X-linked 3	gene	DOID:1909	melanoma		ISO	RGD:1604814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1549739	Armcx3	armadillo repeat containing, X-linked 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549741	Ugt1a2	UDP glucuronosyltransferase 1 family, polypeptide A2	gene	DOID:2739	Gilbert syndrome		ISO	RGD:1352957	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert syndrome, susceptibility to | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE	PMID:10412811|PMID:10472535|PMID:10975608|PMID:11013440|PMID:11061796|PMID:11156391|PMID:11182932|PMID:11316168|PMID:11370628|PMID:11906189|PMID:11968090|PMID:11983459|PMID:12105841|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15007088|PMID:15304109|PMID:15304120|PMID:15378351|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:16952560|PMID:17510208|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19397531|PMID:19414484|PMID:19450125|PMID:19830808|PMID:20530282|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:21726413|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:22992668|PMID:23014115|PMID:23089802|PMID:23099197|PMID:23290513|PMID:23386248|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25869015|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:27845419|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:29607327|PMID:30544479|PMID:30669781|PMID:31145902|PMID:31450232|PMID:31467903|PMID:31737051|PMID:31858773|PMID:32860008|PMID:33083013|PMID:34953813|PMID:35257483|PMID:35426266|PMID:35436954|PMID:35781232|PMID:35942604|PMID:36274106|PMID:36350824|PMID:36574877|PMID:37671043|PMID:38279097|PMID:6480579|PMID:7715297|PMID:7906695|PMID:7989045|PMID:7989595|PMID:805737|PMID:8102509|PMID:8276413|PMID:8514037|PMID:8528206|PMID:8706880|PMID:9028453|PMID:9435989|PMID:9497253|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972
1549741	Ugt1a2	UDP glucuronosyltransferase 1 family, polypeptide A2	gene	DOID:2739	Gilbert syndrome		ISO	RGD:1352957	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE	PMID:10412811|PMID:10472535|PMID:10975608|PMID:11013440|PMID:11061796|PMID:11156391|PMID:11182932|PMID:11316168|PMID:11370628|PMID:11906189|PMID:11968090|PMID:11983459|PMID:12105841|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15007088|PMID:15304109|PMID:15304120|PMID:15378351|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:16952560|PMID:17098698|PMID:17510208|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19397531|PMID:19414484|PMID:19450125|PMID:19830808|PMID:20530282|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:21726413|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22633750|PMID:22983686|PMID:22992668|PMID:23014115|PMID:23089802|PMID:23099197|PMID:23290513|PMID:23386248|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25869015|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:27845419|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:29179591|PMID:29607327|PMID:30544479|PMID:30669781|PMID:31145902|PMID:31450232|PMID:31467903|PMID:31737051|PMID:31858773|PMID:32860008|PMID:33083013|PMID:34953813|PMID:35257483|PMID:35426266|PMID:35436954|PMID:35781232|PMID:35942604|PMID:36274106|PMID:36350824|PMID:36574877|PMID:37671043|PMID:38279097|PMID:6480579|PMID:7491021|PMID:7565971|PMID:7715297|PMID:7906695|PMID:7989045|PMID:7989595|PMID:805737|PMID:8102509|PMID:8276413|PMID:8514037|PMID:8528206|PMID:8596320|PMID:8706880|PMID:9028453|PMID:9435989|PMID:9497253|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972
1549741	Ugt1a2	UDP glucuronosyltransferase 1 family, polypeptide A2	gene	DOID:3803	Crigler-Najjar syndrome		ISO	RGD:8563020	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Crigler-Najjar syndrome	PMID:11061796|PMID:11983459|PMID:12181437|PMID:12485959|PMID:15304109|PMID:15304120|PMID:18004206|PMID:18414213|PMID:18419642|PMID:21297505|PMID:21319362|PMID:22169899|PMID:24033266|PMID:24749086|PMID:25741868|PMID:26250421|PMID:28492532|PMID:29137095|PMID:9630669
1549741	Ugt1a2	UDP glucuronosyltransferase 1 family, polypeptide A2	gene	DOID:5419	schizophrenia		ISO	RGD:1352957	D	RGD:11554173	20171212	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	ameliorates	ISO	RGD:1557345	D	RGD:401976495|PMID:33710653	20240228	RGD			
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:0111228	Sveinsson chorioretinal atrophy		ISO	RGD:1351522	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:0111228	Sveinsson chorioretinal atrophy		ISO	RGD:1351522	D	RGD:7240710	20130221	OMIM			
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:0111228	Sveinsson chorioretinal atrophy		ISO	RGD:1351522	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SVEINSSON CHORIORETINAL ATROPHY | ClinVar Annotator: match by term: TEAD1-related condition	PMID:15016762|PMID:28492532
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1351522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:3275	thymoma		ISO	RGD:1351522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351522	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:630	genetic disease		ISO	RGD:1351522	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1351522	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549742	Tead1	TEA domain transcription factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1549745	Cdyl	chromodomain Y-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549745	Cdyl	chromodomain Y-like	gene	DOID:10534	stomach cancer		ISO	RGD:1606325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1549745	Cdyl	chromodomain Y-like	gene	DOID:1324	lung cancer		ISO	RGD:1606325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1549745	Cdyl	chromodomain Y-like	gene	DOID:1826	epilepsy		ISS	RGD:1556912	D	RGD:13592920	20180518	MouseDO			
1549745	Cdyl	chromodomain Y-like	gene	DOID:3070	high grade glioma		ISO	RGD:1606325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1549745	Cdyl	chromodomain Y-like	gene	DOID:4362	cervical cancer		ISO	RGD:1606325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549745	Cdyl	chromodomain Y-like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1549745	Cdyl	chromodomain Y-like	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1606325	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1549745	Cdyl	chromodomain Y-like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1549745	Cdyl	chromodomain Y-like	gene	DOID:6039	uveal melanoma		ISO	RGD:1606325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1549745	Cdyl	chromodomain Y-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1549745	Cdyl	chromodomain Y-like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1549745	Cdyl	chromodomain Y-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549745	Cdyl	chromodomain Y-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549745	Cdyl	chromodomain Y-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1549748	Rfk	riboflavin kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549748	Rfk	riboflavin kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1313443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1549748	Rfk	riboflavin kinase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313443	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21308351
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:0081010	Bardet-Biedl syndrome 21		ISO	RGD:1606135	D	RGD:7240710	20190315	OMIM			
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:0081010	Bardet-Biedl syndrome 21		ISO	RGD:1606135	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 21 | ClinVar Annotator: match by term: Bardet-biedl syndrome 21	PMID:25741868|PMID:28492532
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:0111022	cone-rod dystrophy 16		ISO	RGD:1606135	D	RGD:7240710	20140911	OMIM			
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:0111022	cone-rod dystrophy 16		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CFAP418-related condition | ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 16 | ClinVar Annotator: match by term: Cone-rod dystrophy 16 | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 64 | ClinVar Annotator: match by term: Retinitis pigmentosa 64	PMID:16199547|PMID:22177090|PMID:25741868|PMID:25802487|PMID:26865426|PMID:28492532|PMID:29127258|PMID:29843741
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:0111022	cone-rod dystrophy 16		ISS	RGD:1617552	D	RGD:13592920	20230718	MouseDO		OMIM:614500	
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:10534	stomach cancer		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1606135	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1606135	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:22177090|PMID:25741868|PMID:26355662|PMID:26854863|PMID:27008867|PMID:28492532
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1606135	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:22177090|PMID:25515582|PMID:25741868|PMID:25802487|PMID:26355662|PMID:26854863|PMID:26865426|PMID:27008867|PMID:28492532|PMID:30029497|PMID:31456290|PMID:34906470
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1606135	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:22177090|PMID:25515582|PMID:25741868|PMID:25802487|PMID:26355662|PMID:26854863|PMID:26865426|PMID:27008867|PMID:28492532|PMID:30029497|PMID:31456290
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1606135	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:22177090|PMID:25515582|PMID:25741868|PMID:26355662|PMID:27008867|PMID:28492532|PMID:30029497|PMID:31456290
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:10584	retinitis pigmentosa		ISS	RGD:1617552	D	RGD:13592920	20230718	MouseDO			
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:1115	sarcoma		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:1324	lung cancer		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:1909	melanoma		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:3275	thymoma		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:4362	cervical cancer		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:5041	esophageal cancer		ISO	RGD:1606135	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:28492532
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:630	genetic disease		ISO	RGD:1606135	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:8501	fundus dystrophy		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25113443|PMID:25741868|PMID:28492532|PMID:36259723
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:9003566	Mesothelioma		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1549749	Cfap418	cilia and flagella associated protein 418	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:0060179	Renpenning syndrome		ISO	RGD:1604644	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15024694|PMID:15782410|PMID:16740914
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:0060179	Renpenning syndrome		ISO	RGD:1604644	D	RGD:7240710	20130221	OMIM			
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:0060179	Renpenning syndrome		ISO	RGD:1604644	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GOLABI-ITO-HALL SYNDROME | ClinVar Annotator: match by term: Mental retardation, X-linked Renpenning  type | ClinVar Annotator: match by term: PQBP1-related condition | ClinVar Annotator: match by term: RENPENNING SYNDROME | ClinVar Annotator: match by term: Renpenning syndrome | ClinVar Annotator: match by term: Renpenning syndrome 1 | ClinVar Annotator: match by term: Sutherland-Haan syndrome	PMID:14634649|PMID:15024694|PMID:15355434|PMID:16493439|PMID:20950397|PMID:21267006|PMID:21315190|PMID:21836667|PMID:24088041|PMID:24781215|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:30143497|PMID:30244542|PMID:31230720|PMID:31840929|PMID:32041777|PMID:33668121|PMID:34470565|PMID:36478645|PMID:39932334|PMID:9545405
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:0060179	Renpenning syndrome		ISS	RGD:1556922	D	RGD:13592920	20230718	MouseDO		OMIM:309500	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:0060249	scoliosis		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:21267006|PMID:24781215|PMID:30143497|PMID:31230720|PMID:33668121
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1604644	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25167861|PMID:25741868|PMID:28492532
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:21267006|PMID:24781215|PMID:25167861|PMID:25741868|PMID:28492532|PMID:30143497|PMID:31230720|PMID:33668121
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1604644	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14634649|PMID:15024694|PMID:16740914
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly	PMID:21267006|PMID:24781215|PMID:25741868|PMID:30143497|PMID:31230720|PMID:33668121
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1604644	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16740914
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1604644	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14634649
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:327	syringomyelia		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syringomyelia	PMID:25741868
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:21267006|PMID:24781215|PMID:30143497|PMID:31230720|PMID:33668121
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21267006|PMID:24781215|PMID:25741868|PMID:28492532|PMID:30143497|PMID:31230720|PMID:33668121
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:21267006|PMID:24781215|PMID:30143497|PMID:31230720|PMID:33668121
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9002969	Nevus		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:28492532
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9004108	Fused Kidney		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:21267006|PMID:24781215|PMID:30143497|PMID:31230720|PMID:33668121
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:21267006|PMID:24781215|PMID:30143497|PMID:31230720|PMID:33668121
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1604644	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14634649|PMID:15024694
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9006257	Growth Disorders		ISO	RGD:1604644	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14634649|PMID:16740914
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:21267006|PMID:24781215|PMID:25741868|PMID:30143497|PMID:31230720|PMID:33668121
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1549750	Pqbp1	polyglutamine binding protein 1	gene	DOID:9827	radioulnar synostosis		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Radioulnar synostosis	PMID:21267006|PMID:24781215|PMID:30143497|PMID:31230720|PMID:33668121
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:0060231	Bruck syndrome		ISO	RGD:1319279	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Bruck syndrome	PMID:16199547|PMID:22689593|PMID:22949511|PMID:25741868|PMID:28492532|PMID:32770541
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:0110339	osteogenesis imperfecta type 3		ISO	RGD:1319279	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta type III	PMID:25741868
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:0110351	osteogenesis imperfecta type 11		ISO	RGD:1319279	D	RGD:7240710	20140911	OMIM			
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:0110351	osteogenesis imperfecta type 11		ISO	RGD:1319279	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FKBP10-related condition | ClinVar Annotator: match by term: OI, TYPE XI | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XI | ClinVar Annotator: match by term: Osteogenesis imperfecta type 11 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type XI | ClinVar Annotator: match by term: osteogenesis imperfecta type 11	PMID:20362275|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27362741|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492130|PMID:28492532|PMID:29499418|PMID:30715774|PMID:34149817|PMID:34902613
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:1115	sarcoma		ISO	RGD:1319279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1319279	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:17576681|PMID:20839288|PMID:22949511|PMID:25741868|PMID:26538303|PMID:28492532|PMID:30715774|PMID:34149817|PMID:9481655|PMID:9536098|PMID:9927692
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1319279	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:17576681|PMID:20839288|PMID:22949511|PMID:23712425|PMID:25741868|PMID:26538303|PMID:28492532|PMID:30715774|PMID:34149817|PMID:9481655|PMID:9536098|PMID:9927692
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1319279	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:16199547|PMID:17576681|PMID:22689593|PMID:22949511|PMID:23712425|PMID:25741868|PMID:27717089|PMID:28492532|PMID:30715774|PMID:32770541|PMID:38927610|PMID:40282376|PMID:9536098
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:1324	lung cancer		ISO	RGD:1319279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:3275	thymoma		ISO	RGD:1319279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:4362	cervical cancer		ISO	RGD:1319279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:630	genetic disease		ISO	RGD:1319279	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30715774
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:9007227	Bruck Syndrome 1		ISO	RGD:1319279	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:9007227	Bruck Syndrome 1		ISO	RGD:1319279	D	RGD:7240710	20150225	OMIM			
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:9007227	Bruck Syndrome 1		ISO	RGD:1319279	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS-LIKE DISORDER | ClinVar Annotator: match by term: Arthrogryposis-like disorder | ClinVar Annotator: match by term: BRUCK SYNDROME 1 | ClinVar Annotator: match by term: Bruck syndrome 1	PMID:20839288|PMID:22689593|PMID:22949511|PMID:23712425|PMID:25741868|PMID:28492130|PMID:28492532|PMID:29499418|PMID:29620724|PMID:32552793
1549751	Fkbp10	FKBP prolyl isomerase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549754	Lypd1	Ly6/Plaur domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1549754	Lypd1	Ly6/Plaur domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549755	Dynlt3	dynein light chain Tctex-type 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549755	Dynlt3	dynein light chain Tctex-type 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1549755	Dynlt3	dynein light chain Tctex-type 3	gene	DOID:10534	stomach cancer		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1549755	Dynlt3	dynein light chain Tctex-type 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1549755	Dynlt3	dynein light chain Tctex-type 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549755	Dynlt3	dynein light chain Tctex-type 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350586	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1549755	Dynlt3	dynein light chain Tctex-type 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549755	Dynlt3	dynein light chain Tctex-type 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549755	Dynlt3	dynein light chain Tctex-type 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549755	Dynlt3	dynein light chain Tctex-type 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1549757	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549757	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1549757	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:0060058	lymphoma		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1549757	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:0080600	COVID-19		ISO	RGD:1354428	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1549757	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1549757	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1549757	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:1324	lung cancer		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1549757	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1549757	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549757	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1354428	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1549757	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1549757	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1549757	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549757	Fkbp9	FKBP prolyl isomerase 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1549760	Dnaaf4	dynein axonemal assembly factor 4	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1343869	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23872636
1549760	Dnaaf4	dynein axonemal assembly factor 4	gene	DOID:0060254	Robinow syndrome		ISS	RGD:1558065	D	RGD:13592920	20180518	MouseDO			
1549760	Dnaaf4	dynein axonemal assembly factor 4	gene	DOID:0110615	primary ciliary dyskinesia 25		ISS	RGD:1558065	D	RGD:13592920	20230718	MouseDO		OMIM:615482	
1549760	Dnaaf4	dynein axonemal assembly factor 4	gene	DOID:0110615	primary ciliary dyskinesia 25	susceptibility	ISO	RGD:1343869	D	RGD:7240710	20260812	OMIM			
1549760	Dnaaf4	dynein axonemal assembly factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1343869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1549760	Dnaaf4	dynein axonemal assembly factor 4	gene	DOID:12336	male infertility		ISO	RGD:1343869	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23872636
1549760	Dnaaf4	dynein axonemal assembly factor 4	gene	DOID:4428	dyslexia		ISO	RGD:1343869	D	RGD:11554173	20230711	CTD		CTD Direct Evidence: marker/mechanism	
1549760	Dnaaf4	dynein axonemal assembly factor 4	gene	DOID:4428	dyslexia	susceptibility	ISO	RGD:1343869	D	RGD:7240710	20260812	OMIM			
1549763	Msl3	MSL complex subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1549763	Msl3	MSL complex subunit 3	gene	DOID:0050735	X-linked monogenic disease		ISO	RGD:1605696	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:30224647
1549763	Msl3	MSL complex subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1549763	Msl3	MSL complex subunit 3	gene	DOID:0111838	Basilicata-Akhtar syndrome		ISO	RGD:1605696	D	RGD:7240710	20191002	OMIM			
1549763	Msl3	MSL complex subunit 3	gene	DOID:0111838	Basilicata-Akhtar syndrome		ISO	RGD:1605696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BASILICATA-AKHTAR SYNDROME | ClinVar Annotator: match by term: Basilicata-Akhtar syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 36 | ClinVar Annotator: match by term: MSL3-related condition	PMID:25741868|PMID:30224647|PMID:33173220
1549763	Msl3	MSL complex subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1549763	Msl3	MSL complex subunit 3	gene	DOID:1059	intellectual disability		ISO	RGD:1605696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1549763	Msl3	MSL complex subunit 3	gene	DOID:10908	hydrocephalus		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
1549763	Msl3	MSL complex subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1549763	Msl3	MSL complex subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1549763	Msl3	MSL complex subunit 3	gene	DOID:11830	myopia		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1549763	Msl3	MSL complex subunit 3	gene	DOID:12849	autistic disorder		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1549763	Msl3	MSL complex subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1549763	Msl3	MSL complex subunit 3	gene	DOID:1596	depressive disorder		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868
1549763	Msl3	MSL complex subunit 3	gene	DOID:1826	epilepsy		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1549763	Msl3	MSL complex subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1549763	Msl3	MSL complex subunit 3	gene	DOID:1969	cerebral palsy		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
1549763	Msl3	MSL complex subunit 3	gene	DOID:2030	anxiety disorder		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
1549763	Msl3	MSL complex subunit 3	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
1549763	Msl3	MSL complex subunit 3	gene	DOID:3070	high grade glioma		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1549763	Msl3	MSL complex subunit 3	gene	DOID:3312	bipolar disorder		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868
1549763	Msl3	MSL complex subunit 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1549763	Msl3	MSL complex subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549763	Msl3	MSL complex subunit 3	gene	DOID:480	movement disease		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
1549763	Msl3	MSL complex subunit 3	gene	DOID:540	strabismus		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1549763	Msl3	MSL complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549763	Msl3	MSL complex subunit 3	gene	DOID:630	genetic disease		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16227571|PMID:25741868|PMID:30224647
1549763	Msl3	MSL complex subunit 3	gene	DOID:9001487	Facies		ISO	RGD:1605696	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:30224647
1549763	Msl3	MSL complex subunit 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1549763	Msl3	MSL complex subunit 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1549763	Msl3	MSL complex subunit 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605696	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1549763	Msl3	MSL complex subunit 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1549763	Msl3	MSL complex subunit 3	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1605696	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:30224647
1549763	Msl3	MSL complex subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1549763	Msl3	MSL complex subunit 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605696	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:30224647
1549763	Msl3	MSL complex subunit 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1549763	Msl3	MSL complex subunit 3	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1605696	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:30224647
1549763	Msl3	MSL complex subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605696	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549766	Serpinb3	serpin family B member 3	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1346118	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
1549766	Serpinb3	serpin family B member 3	gene	DOID:1115	sarcoma		ISO	RGD:1346118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1549766	Serpinb3	serpin family B member 3	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1346118	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
1549766	Serpinb3	serpin family B member 3	gene	DOID:2773	contact dermatitis		ISO	RGD:1346118	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1549766	Serpinb3	serpin family B member 3	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1346118	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
1549766	Serpinb3	serpin family B member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1346118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549766	Serpinb3	serpin family B member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1346118	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1549766	Serpinb3	serpin family B member 3	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1346118	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
1549766	Serpinb3	serpin family B member 3	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1346118	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1549766	Serpinb3	serpin family B member 3	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1346118	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
1549767	Coasy	Coenzyme A synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1549767	Coasy	Coenzyme A synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1549767	Coasy	Coenzyme A synthase	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:0070297	primary microcephaly		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30089828|PMID:35499143|PMID:9536098
1549767	Coasy	Coenzyme A synthase	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30089828|PMID:35499143|PMID:9536098
1549767	Coasy	Coenzyme A synthase	gene	DOID:0110488	autosomal recessive nonsyndromic deafness 3		ISO	RGD:1354088	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3	PMID:28492532
1549767	Coasy	Coenzyme A synthase	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1354088	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation | ClinVar Annotator: match by term: neurodegeneration with brain iron accumulation	PMID:21264299|PMID:24360804|PMID:25741868|PMID:27021474|PMID:28357284|PMID:28489334|PMID:28492532|PMID:28688840|PMID:33644862
1549767	Coasy	Coenzyme A synthase	gene	DOID:0110736	neurodegeneration with brain iron accumulation 2B		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30089828|PMID:35499143|PMID:9536098
1549767	Coasy	Coenzyme A synthase	gene	DOID:0110740	neurodegeneration with brain iron accumulation 6		ISO	RGD:1354088	D	RGD:7240710	20140911	OMIM			
1549767	Coasy	Coenzyme A synthase	gene	DOID:0110740	neurodegeneration with brain iron accumulation 6		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COASY protein-associated neurodegeneration | ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6	PMID:17576681|PMID:21264299|PMID:24360804|PMID:25741868|PMID:27021474|PMID:28106320|PMID:28357284|PMID:28489334|PMID:28492532|PMID:28688840|PMID:30089828|PMID:31130284|PMID:33644862|PMID:35499143|PMID:38413569|PMID:9536098
1549767	Coasy	Coenzyme A synthase	gene	DOID:0110740	neurodegeneration with brain iron accumulation 6		ISS	RGD:1558125	D	RGD:13592920	20230718	MouseDO		OMIM:615643	
1549767	Coasy	Coenzyme A synthase	gene	DOID:0112327	pontocerebellar hypoplasia type 12		ISO	RGD:1354088	D	RGD:7240710	20190315	OMIM			
1549767	Coasy	Coenzyme A synthase	gene	DOID:0112327	pontocerebellar hypoplasia type 12		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COASY-related condition | ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 12	PMID:17576681|PMID:24360804|PMID:25741868|PMID:28492532|PMID:30089828|PMID:35499143|PMID:36495139|PMID:9536098
1549767	Coasy	Coenzyme A synthase	gene	DOID:10534	stomach cancer		ISO	RGD:1354088	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1549767	Coasy	Coenzyme A synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1549767	Coasy	Coenzyme A synthase	gene	DOID:12801	mucopolysaccharidosis III	susceptibility	ISO	RGD:1354088	D	RGD:1642057|PMID:11153910	20070830	RGD		DNA:nonsense mutation, splice-site mutation, missense mutations:multiple	
1549767	Coasy	Coenzyme A synthase	gene	DOID:12849	autistic disorder		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1549767	Coasy	Coenzyme A synthase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:1459	hypothyroidism		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:28492532
1549767	Coasy	Coenzyme A synthase	gene	DOID:1596	depressive disorder		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:1826	epilepsy		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30089828|PMID:35499143|PMID:9536098
1549767	Coasy	Coenzyme A synthase	gene	DOID:1909	melanoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:2030	anxiety disorder		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:3087	gingivitis		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:3275	thymoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1549767	Coasy	Coenzyme A synthase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1549767	Coasy	Coenzyme A synthase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1549767	Coasy	Coenzyme A synthase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1549767	Coasy	Coenzyme A synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549767	Coasy	Coenzyme A synthase	gene	DOID:6039	uveal melanoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1549767	Coasy	Coenzyme A synthase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1549767	Coasy	Coenzyme A synthase	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:9001733	Tinnitus		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:9002543	Myopathy with Abnormal Lipid Metabolism		ISO	RGD:1354088	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Lipid storage myopathy	PMID:28492532|PMID:38413569
1549767	Coasy	Coenzyme A synthase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1549767	Coasy	Coenzyme A synthase	gene	DOID:9003507	Premature Birth		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:9003539	Hyperacusis		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
1549767	Coasy	Coenzyme A synthase	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1549767	Coasy	Coenzyme A synthase	gene	DOID:9005077	Joint Instability		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354088	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549767	Coasy	Coenzyme A synthase	gene	DOID:9007356	Eczema		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:28492532
1549767	Coasy	Coenzyme A synthase	gene	DOID:9007736	Vertigo		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:9008023	Memory Disorders		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868
1549767	Coasy	Coenzyme A synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549767	Coasy	Coenzyme A synthase	gene	DOID:9256	colorectal cancer		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1549767	Coasy	Coenzyme A synthase	gene	DOID:9834	hyperopia		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347857	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1347857	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347857	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881|PMID:17592021
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549768	Stard3	StAR-related lipid transfer domain containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1347857	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1549770	Capza2	capping actin protein of muscle Z-line subunit alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1549770	Capza2	capping actin protein of muscle Z-line subunit alpha 2	gene	DOID:0080600	COVID-19		ISO	RGD:1350794	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1549770	Capza2	capping actin protein of muscle Z-line subunit alpha 2	gene	DOID:1059	intellectual disability		ISO	RGD:1350794	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1549770	Capza2	capping actin protein of muscle Z-line subunit alpha 2	gene	DOID:1059	intellectual disability		ISS	RGD:1558430	D	RGD:13592920	20251023	MouseDO			
1549770	Capza2	capping actin protein of muscle Z-line subunit alpha 2	gene	DOID:1324	lung cancer		ISO	RGD:1350794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1549770	Capza2	capping actin protein of muscle Z-line subunit alpha 2	gene	DOID:1909	melanoma		ISO	RGD:1350794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1549770	Capza2	capping actin protein of muscle Z-line subunit alpha 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1549770	Capza2	capping actin protein of muscle Z-line subunit alpha 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1350794	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic	PMID:28492532
1549770	Capza2	capping actin protein of muscle Z-line subunit alpha 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1549770	Capza2	capping actin protein of muscle Z-line subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549770	Capza2	capping actin protein of muscle Z-line subunit alpha 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1549770	Capza2	capping actin protein of muscle Z-line subunit alpha 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:32338762|PMID:38374166
1549770	Capza2	capping actin protein of muscle Z-line subunit alpha 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549770	Capza2	capping actin protein of muscle Z-line subunit alpha 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1549771	Ugt1a9	UDP glucuronosyltransferase family 1 member A9	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1348090	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Leber's amaurosis	PMID:10975608|PMID:12105841|PMID:12208142|PMID:15304120|PMID:16610035|PMID:21726413|PMID:25741868|PMID:25993113|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:30669781|PMID:31450232|PMID:31737051|PMID:31858773|PMID:32165824|PMID:33083013|PMID:34953813|PMID:35257483|PMID:35426266|PMID:35436954|PMID:35781232|PMID:35942604|PMID:36274106|PMID:36350824|PMID:36574877|PMID:37671043|PMID:38279097
1549771	Ugt1a9	UDP glucuronosyltransferase family 1 member A9	gene	DOID:2739	Gilbert syndrome		ISO	RGD:11643207	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Gilbert's syndrome	PMID:23290513|PMID:25741868|PMID:28492532
1549771	Ugt1a9	UDP glucuronosyltransferase family 1 member A9	gene	DOID:2739	Gilbert syndrome		ISO	RGD:8563019	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Gilbert syndrome	PMID:10412811|PMID:10472535|PMID:11013440|PMID:11061796|PMID:11316168|PMID:12502904|PMID:15304120|PMID:17850628|PMID:18004206|PMID:19243019|PMID:19397531|PMID:19830808|PMID:20975617|PMID:21272068|PMID:21319362|PMID:21342357|PMID:23014115|PMID:24033692|PMID:25200497|PMID:25741868|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26830078|PMID:26857783|PMID:27220761|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29179591|PMID:7491021|PMID:7565971|PMID:8596320|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972
1549771	Ugt1a9	UDP glucuronosyltransferase family 1 member A9	gene	DOID:3021	acute kidney failure		ISO	RGD:1348090	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20623750
1549771	Ugt1a9	UDP glucuronosyltransferase family 1 member A9	gene	DOID:3803	Crigler-Najjar syndrome		ISO	RGD:1348090	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1	PMID:11061796|PMID:11182932|PMID:11968090|PMID:11983459|PMID:12181437|PMID:12208142|PMID:12485959|PMID:14616765|PMID:15304109|PMID:15304120|PMID:15712364|PMID:16269258|PMID:1634050|PMID:16504606|PMID:16610035|PMID:1692835|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19217809|PMID:19325249|PMID:19830808|PMID:21297505|PMID:21319362|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:23290513|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24390994|PMID:24749086|PMID:25741868|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26697581|PMID:26716871|PMID:26727668|PMID:27264814|PMID:28492532|PMID:29137095|PMID:31737051|PMID:7906695|PMID:7936809|PMID:8102509|PMID:8276413|PMID:8514037|PMID:9039987|PMID:9497253|PMID:9621515|PMID:9630669
1549771	Ugt1a9	UDP glucuronosyltransferase family 1 member A9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348090	D	RGD:2325161|PMID:9230212	20100521	RGD			
1549771	Ugt1a9	UDP glucuronosyltransferase family 1 member A9	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1348090	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20623750
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:0080073	spina bifida occulta		ISO	RGD:1602075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	PMID:25741868|PMID:38965372
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1602075	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:10534	stomach cancer		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:1115	sarcoma		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:12849	autistic disorder		ISO	RGD:1602075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:38965372
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:3275	thymoma		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:4362	cervical cancer		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1602075	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:9001031	Retrognathia		ISO	RGD:1602075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:38965372
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:38965372
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1602075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:38965372
1549772	Leo1	LEO1 component of Paf1/RNA polymerase II complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549773	Lrrc1	leucine rich repeat containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1549773	Lrrc1	leucine rich repeat containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1318108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1549773	Lrrc1	leucine rich repeat containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1318108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1549773	Lrrc1	leucine rich repeat containing 1	gene	DOID:1909	melanoma		ISO	RGD:1318108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1549773	Lrrc1	leucine rich repeat containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1549773	Lrrc1	leucine rich repeat containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549773	Lrrc1	leucine rich repeat containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318108	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1549773	Lrrc1	leucine rich repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549773	Lrrc1	leucine rich repeat containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1318108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1549773	Lrrc1	leucine rich repeat containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1549773	Lrrc1	leucine rich repeat containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318108	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1549773	Lrrc1	leucine rich repeat containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549773	Lrrc1	leucine rich repeat containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549773	Lrrc1	leucine rich repeat containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1549774	Irf3	interferon regulatory factor 3	gene	DOID:0080461	developmental and epileptic encephalopathy 26		ISO	RGD:1344104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26	PMID:25741868
1549774	Irf3	interferon regulatory factor 3	gene	DOID:0080711	multisystem inflammatory syndrome in children		ISO	RGD:1344104	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children	
1549774	Irf3	interferon regulatory factor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1549774	Irf3	interferon regulatory factor 3	gene	DOID:1909	melanoma		ISO	RGD:1344104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1549774	Irf3	interferon regulatory factor 3	gene	DOID:2841	asthma		ISO	RGD:1558245	D	RGD:5128793|PMID:20673978	20110316	RGD			
1549774	Irf3	interferon regulatory factor 3	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1344104	D	RGD:11554173	20200331	CTD		CTD Direct Evidence: marker/mechanism	PMID:26861016
1549774	Irf3	interferon regulatory factor 3	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1344104	D	RGD:5490168|PMID:19635508	20200527	RGD		mRNA:increased expression:lung (human)	
1549774	Irf3	interferon regulatory factor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1549774	Irf3	interferon regulatory factor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344104	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1549774	Irf3	interferon regulatory factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549774	Irf3	interferon regulatory factor 3	gene	DOID:874	bacterial pneumonia		ISO	RGD:1558245	D	RGD:4891951|PMID:20720199	20110316	RGD			
1549774	Irf3	interferon regulatory factor 3	gene	DOID:9000840	Herpes Simplex Encephalitis 7		ISO	RGD:1344104	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | ClinVar Annotator: match by term: IRF3-related condition	PMID:25741868|PMID:28492532
1549774	Irf3	interferon regulatory factor 3	gene	DOID:9000840	Herpes Simplex Encephalitis 7	susceptibility	ISO	RGD:1344104	D	RGD:7240710	20190502	OMIM			
1549774	Irf3	interferon regulatory factor 3	gene	DOID:9003870	Herpes Simplex Encephalitis		ISO	RGD:1344104	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1549774	Irf3	interferon regulatory factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549774	Irf3	interferon regulatory factor 3	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1558245	D	RGD:5128795|PMID:17027894	20110316	RGD			
1549774	Irf3	interferon regulatory factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1549774	Irf3	interferon regulatory factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1549774	Irf3	interferon regulatory factor 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1344104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1549776	Aspn	asporin	gene	DOID:7147	ankylosing spondylitis	susceptibility	ISO	RGD:1345823	D	RGD:9684964|PMID:20144272	20141211	RGD		DNA:repeats:exon:	
1549776	Aspn	asporin	gene	DOID:8398	osteoarthritis		ISO	RGD:1345823	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1549776	Aspn	asporin	gene	DOID:8398	osteoarthritis		ISO	RGD:1345823	D	RGD:7240710	20260729	OMIM			
1549776	Aspn	asporin	gene	DOID:8398	osteoarthritis	no_association	ISO	RGD:1345823	D	RGD:9684966|PMID:16542493	20141211	RGD		DNA:repeats:exon:	
1549776	Aspn	asporin	gene	DOID:90	degenerative disc disease	severity	ISO	RGD:1345823	D	RGD:9684961|PMID:19327154	20141211	RGD		mRNA:increased expression:intervertebral disk:	
1549776	Aspn	asporin	gene	DOID:90	degenerative disc disease	susceptibility	ISO	RGD:1345823	D	RGD:9684970|PMID:18304494	20141211	RGD		DNA:repeats:exon:	
1549776	Aspn	asporin	gene	DOID:9000058	Keloid		ISO	RGD:1345823	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
1549776	Aspn	asporin	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:1345823	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1549776	Aspn	asporin	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:1345823	D	RGD:7240710	20260729	OMIM			
1549776	Aspn	asporin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1345823	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1549776	Aspn	asporin	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:1345823	D	RGD:9684965|PMID:15640800	20141211	RGD		mRNA:increased expression:cartilage:	
1549776	Aspn	asporin	gene	DOID:9002331	Knee Osteoarthritis	severity	ISO	RGD:1345823	D	RGD:9684965|PMID:15640800	20141211	RGD		DNA:repeats:exon:	
1549776	Aspn	asporin	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1345823	D	RGD:9684965|PMID:15640800	20141211	RGD		mRNA:increased expression:cartilage:	
1549776	Aspn	asporin	gene	DOID:9007078	Hip Dislocation	susceptibility	ISO	RGD:1345823	D	RGD:9684968|PMID:21329514	20141211	RGD		DNA:repeats:exon:	
1549778	Sertad1	SERTA domain containing 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1353244	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18097604
1549780	Xkr4	XK related 4	gene	DOID:1115	sarcoma		ISO	RGD:1606184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1549780	Xkr4	XK related 4	gene	DOID:1909	melanoma		ISO	RGD:1606184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1549780	Xkr4	XK related 4	gene	DOID:303	substance-related disorder		ISO	RGD:1606184	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1549780	Xkr4	XK related 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549780	Xkr4	XK related 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1606184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1549782	Pcgf1	polycomb group ring finger 1	gene	DOID:1115	sarcoma		ISO	RGD:1349943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1549782	Pcgf1	polycomb group ring finger 1	gene	DOID:1324	lung cancer		ISO	RGD:1349943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1549782	Pcgf1	polycomb group ring finger 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1549782	Pcgf1	polycomb group ring finger 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1549782	Pcgf1	polycomb group ring finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1549782	Pcgf1	polycomb group ring finger 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1549784	Hnrnph2	heterogeneous nuclear ribonucleoprotein H2	gene	DOID:0050450	Gitelman syndrome		ISO	RGD:1605724	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia	PMID:25741868|PMID:27545675|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778
1549784	Hnrnph2	heterogeneous nuclear ribonucleoprotein H2	gene	DOID:0070538	syndromic X-linked intellectual developmental disorder Bain type		ISO	RGD:1605724	D	RGD:7240710	20190315	OMIM			
1549784	Hnrnph2	heterogeneous nuclear ribonucleoprotein H2	gene	DOID:0070538	syndromic X-linked intellectual developmental disorder Bain type		ISS	RGD:1621555	D	RGD:13592920	20240321	MouseDO		OMIM:300986	
1549784	Hnrnph2	heterogeneous nuclear ribonucleoprotein H2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605724	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive	PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:34008892
1549784	Hnrnph2	heterogeneous nuclear ribonucleoprotein H2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605724	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy	PMID:25741868|PMID:27545675|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778
1549794	SS.LEW-(<i>D2Rat199-D2Mco17</i>)/Ayd		strain	DOID:10763	hypertension	induces	IAGP	XCO:0000022	D	RGD:7421500|PMID:23814039	20131211	RGD			
1549799	BB.SHR-<i>(D6Rat184-D6Rat3)</i>/K		strain	DOID:9744	type 1 diabetes mellitus		IAGP		D	RGD:619685|PMID:11327715	20200206	RGD			
1549801	BN/Seac		strain	DOID:9351	diabetes mellitus	MODEL: control	IAGP		D	RGD:631173|PMID:12705906	20200130	RGD		compared to SDT/Jcl	
1549827	Scl46	Serum cholesterol level QTL 46	qtl	DOID:9000808	Hypercholesterolemia		IAGP		D	RGD:1547851|PMID:16061941	19990101	RGD			
1549828	Bp258	Blood pressure QTL 258	qtl	DOID:10763	hypertension		IAGP		D	RGD:1357413|PMID:15738349	19990101	RGD			
1549829	Scl48	Serum cholesterol level QTL 48	qtl	DOID:9000808	Hypercholesterolemia		IAGP		D	RGD:1547851|PMID:16061941	19990101	RGD			
1549830	Bss1	Bone structure and strength QTL 1	qtl	DOID:0080001	bone disease		IAGP		D	RGD:1549683|PMID:16059631	19990101	RGD			
1549831	Bss6	Bone structure and strength QTL 6	qtl	DOID:0080001	bone disease		IAGP		D	RGD:1549683|PMID:16059631	19990101	RGD			
1549832	Bss3	Bone structure and strength QTL 3	qtl	DOID:0080001	bone disease		IAGP		D	RGD:1549683|PMID:16059631	19990101	RGD			
1549833	Bp257	Blood pressure QTL 257	qtl	DOID:10763	hypertension		IAGP		D	RGD:1357413|PMID:15738349	19990101	RGD			
1549834	Scl45	Serum cholesterol level QTL 45	qtl	DOID:9000808	Hypercholesterolemia		IAGP		D	RGD:1547851|PMID:16061941	19990101	RGD			
1549835	Tcas7	Tongue tumor susceptibility QTL 7	qtl	DOID:9005873	Tongue Neoplasms		IAGP		D	RGD:1358147|PMID:15876484	19990101	RGD			
1549836	Bss2	Bone structure and strength QTL 2	qtl	DOID:0080001	bone disease		IAGP		D	RGD:1549683|PMID:16059631	19990101	RGD			
1549837	Hcar15	Hepatocarcinoma resistance QTL 15	qtl	DOID:9001586	Experimental Liver Neoplasms		IDA		D	RGD:1358145|PMID:15771619	19990101	RGD			
1549838	Bss4	Bone structure and strength QTL 4	qtl	DOID:0080001	bone disease		IAGP		D	RGD:1549683|PMID:16059631	19990101	RGD			
1549839	Bw52	Body weight QTL 52	qtl	DOID:9970	obesity		IAGP		D	RGD:1358143|PMID:15833945	19990101	RGD			
1549840	Bss5	Bone structure and strength QTL 5	qtl	DOID:0080001	bone disease		IAGP		D	RGD:1549683|PMID:16059631	19990101	RGD			
1549841	Bp256	Blood pressure QTL 256	qtl	DOID:10763	hypertension		IAGP		D	RGD:1357413|PMID:15738349	19990101	RGD			
1549842	Bp248	Blood pressure QTL 248	qtl	DOID:10763	hypertension		IAGP		D	RGD:1300037|PMID:15080379	19990101	RGD			
1549843	Bw53	Body weight QTL 53	qtl	DOID:9970	obesity		IAGP		D	RGD:1358143|PMID:15833945	19990101	RGD			
1549844	Bss7	Bone structure and strength QTL 7	qtl	DOID:0080001	bone disease		IAGP		D	RGD:1549683|PMID:16059631	19990101	RGD			
1549845	Scl44	Serum cholesterol level QTL 44	qtl	DOID:9000808	Hypercholesterolemia		IAGP		D	RGD:1547851|PMID:16061941	19990101	RGD			
1549846	Scl47	Serum cholesterol level QTL 47	qtl	DOID:9000808	Hypercholesterolemia		IAGP		D	RGD:1547851|PMID:16061941	19990101	RGD			
1549847	Bss8	Bone structure and strength QTL 8	qtl	DOID:0080001	bone disease		IAGP		D	RGD:1549683|PMID:16059631	19990101	RGD			
1549848	Bvd6	Brain ventricular dilatation QTL 6	qtl	DOID:10908	hydrocephalus		IAGP		D	RGD:68693|PMID:11178739	19990101	RGD			
1549897	Stresp12	Stress response QTL 12	qtl	DOID:2030	anxiety disorder		IAGP		D	RGD:1358767|PMID:15685431	19990101	RGD			
1549898	Neuinf3	Neuroinflammation QTL 3	qtl	DOID:438	autoimmune disease of the nervous system		IAGP		D	RGD:1358788|PMID:14586010	19990101	RGD			
1549899	Stresp8	Stress response QTL 8	qtl	DOID:2030	anxiety disorder		IAGP		D	RGD:1358767|PMID:15685431	19990101	RGD			
1549900	Iddm20	Insulin dependent diabetes mellitus QTL 20	qtl	DOID:9005643	Experimental Diabetes Mellitus		IDA		D	RGD:1358924|PMID:15793267	19990101	RGD			
1549901	Neudeg2	Neurodegradation QTL 2	qtl	DOID:1289	neurodegenerative disease		IAGP		D	RGD:1358788|PMID:14586010	19990101	RGD			
1549901	Neudeg2	Neurodegradation QTL 2	qtl	DOID:331	central nervous system disease		IAGP		D	RGD:1358788|PMID:14586010	19990101	RGD			
1549902	Bp269	Blood pressure QTL 269	qtl	DOID:10763	hypertension		IAGP		D	RGD:1358144|PMID:15809361	19990101	RGD			
1549903	Bp267	Blood pressure QTL 267	qtl	DOID:10763	hypertension		IAGP		D	RGD:1358144|PMID:15809361	19990101	RGD			
1549904	Neuinf1	Neuroinflammation QTL 1	qtl	DOID:331	central nervous system disease		IAGP		D	RGD:1358788|PMID:14586010	19990101	RGD			
1549905	Stresp10	Stress response QTL 10	qtl	DOID:2030	anxiety disorder		IAGP		D	RGD:1358767|PMID:15685431	19990101	RGD			
1549907	Neuinf2	Neuroinflammation QTL 2	qtl	DOID:438	autoimmune disease of the nervous system		IAGP		D	RGD:1358788|PMID:14586010	19990101	RGD			
1549907	Neuinf2	Neuroinflammation QTL 2	qtl	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IAGP		D	RGD:7242893|PMID:18292553	20170825	RGD			
1549908	Neudeg1	Neurodegradation QTL 1	qtl	DOID:1289	neurodegenerative disease		IAGP		D	RGD:1358788|PMID:14586010	19990101	RGD			
1549909	Stresp11	Stress response QTL 11	qtl	DOID:2030	anxiety disorder		IAGP		D	RGD:1358767|PMID:15685431	19990101	RGD			
1549910	Bw54	Body weight QTL 54	qtl	DOID:9970	obesity		IAGP		D	RGD:1358859|PMID:15883013	19990101	RGD			
1549911	Stresp9	Stress response QTL 9	qtl	DOID:2030	anxiety disorder		IAGP		D	RGD:1358767|PMID:15685431	19990101	RGD			
1549912	Bp268	Blood pressure QTL 268	qtl	DOID:10763	hypertension		IAGP		D	RGD:1358144|PMID:15809361	19990101	RGD			
1549913	Stresp13	Stress response QTL 13	qtl	DOID:2030	anxiety disorder		IAGP		D	RGD:1358767|PMID:15685431	19990101	RGD			
155261286	CVCL_C1JV	betaG 11/3E9	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C121566	
155261288	CVCL_C1JU	betaG I/17	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C121566	
155261290	CVCL_C1JX	betaG 40/107	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C121566	
155261292	CVCL_C1JW	betaG 23/21	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C121566	
155261296	CVCL_C1JL	betaG 111/228	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C121566	
155261297	CVCL_C1JK	betaG 18/3E1	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C121566	
155261313	CVCL_C1IX	T9	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C60453	
155261342	CVCL_C1KE	RIN 100/1	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C121566	
155261344	CVCL_C1KG	RIN 100/6	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C121566	
155261345	CVCL_C1KF	RIN 100/2	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C121566	
155261346	CVCL_C1KI	RIN 30/7	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C121566	
155261347	CVCL_C1KH	RIN 30/10	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C121566	
155261348	CVCL_C1JZ	betaG 40/110	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C121566	
155261349	CVCL_C1JY	betaG 49/206	cell line	DOID:3892	insulinoma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C121566	
155261389	CVCL_C1IQ	T2 [Rat mesothelioma]	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C60453	
155261391	CVCL_C1IP	T13	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C60453	
155261393	CVCL_C1IS	T4	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C60453	
155261395	CVCL_C1IR	T3 [Rat mesothelioma]	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C60453	
155261397	CVCL_C1IU	T6 [Rat mesothelioma]	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C60453	
155261399	CVCL_C1IT	T5 [Rat mesothelioma]	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C60453	
155261401	CVCL_C1IW	T8	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C60453	
155261403	CVCL_C1IV	T7 [Rat mesothelioma]	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C60453	
155261406	CVCL_C1IK	T1 [Rat mesothelioma]	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C60453	
155261408	CVCL_C1IM	T11 [Rat mesothelioma]	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C60453	
155261409	CVCL_C1IL	T10 [Rat mesothelioma]	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C60453	
155261411	CVCL_C1IN	T12	cell line	DOID:1790	malignant mesothelioma		IEA		D	RGD:21410187	20221007	CELLOSAURUS		NCI:C60453	
1554317	Bmd4	Bone mineral density QTL 4	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1553896|PMID:16180139	19990101	RGD			
1554318	Bmd5	Bone mineral density QTL 5	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1553896|PMID:16180139	19990101	RGD			
1554319	Bmd2	Bone mineral density QTL 2	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1553896|PMID:16180139	19990101	RGD			
1554320	Bmd1	Bone mineral density QTL 1	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1553896|PMID:16180139	19990101	RGD			
1554321	Bmd3	Bone mineral density QTL 3	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1553896|PMID:16180139	19990101	RGD			
1554322	Apc<sup>Pirc</sup>	APC, WNT signaling pathway regulator; polyposis in the rat colon	gene	DOID:0050424	familial adenomatous polyposis		IMP		D	RGD:1601201|PMID:17360473	20080924	RGD			
1554322	Apc<sup>Pirc</sup>	APC, WNT signaling pathway regulator; polyposis in the rat colon	gene	DOID:234	colon adenocarcinoma		IMP		D	RGD:1601201|PMID:17360473	20080924	RGD		associated with Adenomatous Polyposis Coli	
1554322	Apc<sup>Pirc</sup>	APC, WNT signaling pathway regulator; polyposis in the rat colon	gene	DOID:2355	anemia		IMP		D	RGD:1601201|PMID:17360473	20201210	RGD			
1554322	Apc<sup>Pirc</sup>	APC, WNT signaling pathway regulator; polyposis in the rat colon	gene	DOID:9002245	Intestinal Neoplasms		IMP		D	RGD:1601201|PMID:17360473	20201210	RGD			
1554322	Apc<sup>Pirc</sup>	APC, WNT signaling pathway regulator; polyposis in the rat colon	gene	DOID:9002928	Colonic Neoplasms		IMP		D	RGD:1601201|PMID:17360473	20201210	RGD			
1554322	Apc<sup>Pirc</sup>	APC, WNT signaling pathway regulator; polyposis in the rat colon	gene	DOID:9004271	Colonic Polyps		IMP		D	RGD:1601201|PMID:17360473	20201210	RGD			
1554322	Apc<sup>Pirc</sup>	APC, WNT signaling pathway regulator; polyposis in the rat colon	gene	DOID:9004594	Jaw Neoplasms		IMP		D	RGD:1601201|PMID:17360473	20201210	RGD			
155631259	Taiep		strain	DOID:10027	tabes dorsalis		IAGP		D	RGD:155631258|PMID:2724922	20221028	RGD			
155641233	SD-Tg(Rho*P23H)1Lav		strain	DOID:10584	retinitis pigmentosa		IMP		D	RGD:11065783|PMID:26009893	20170817	RGD			
155641235	WMI/Eer	WKY most immobile	strain	DOID:1596	depressive disorder	susceptibility	IAGP		D	RGD:4891105|PMID:21079605	20110107	RGD		in the forced swim test (FST)	
155641237	WLI/Eer	WKY least immobile	strain	DOID:1596	depressive disorder	resistance	IAGP		D	RGD:4891105|PMID:21079605	20110107	RGD		in the forced swim test (FST)	
1556747	Calcic1	Intracellular calcium level QTL 1	qtl	DOID:10763	hypertension		IDA		D	RGD:1547855|PMID:15882549	19990101	RGD			
1556748	F344/Snk		strain	DOID:10763	hypertension	MODEL: control	IAGP		D	RGD:1599588|PMID:17261463	20200129	RGD		compared to SHR/Snk strain	
155791740	CVCL_C6IH	RH7777 GFP-LYVE-1	cell line	DOID:684	hepatocellular carcinoma		IEA		D	RGD:21410187	20230106	CELLOSAURUS		NCI:C60416	
155792740	CVCL_C4MR	RBL-hEIalpha-2B12	cell line	DOID:1240	leukemia		IEA		D	RGD:21410187	20230106	CELLOSAURUS		NCI:C60428	
155792742	CVCL_C4MQ	RBL-30/25	cell line	DOID:1240	leukemia		IEA		D	RGD:21410187	20230106	CELLOSAURUS		NCI:C60428	
155792762	CVCL_C4MP	RBL SX-38	cell line	DOID:1240	leukemia		IEA		D	RGD:21410187	20230106	CELLOSAURUS		NCI:C60428	
155794008	CVCL_C4UT	PC12-P1F1	cell line	DOID:0050892	adrenal gland pheochromocytoma		IEA		D	RGD:21410187	20230106	CELLOSAURUS		NCI:C121568	
155794010	CVCL_C4US	PC12-P1D10	cell line	DOID:0050892	adrenal gland pheochromocytoma		IEA		D	RGD:21410187	20230106	CELLOSAURUS		NCI:C121568	
155804258	BN/Rij		strain	DOID:9119	acute myeloid leukemia	MODEL: induced	IAGP		D	RGD:155804262|PMID:6941052	20230111	RGD			
155804258	BN/Rij		strain	DOID:9119	acute myeloid leukemia	MODEL: induced	IAGP		D	RGD:155804263|PMID:3860369	20230111	RGD			
155804258	BN/Rij		strain	DOID:9119	acute myeloid leukemia	MODEL: induced	IAGP		D	RGD:155804289|PMID:6778781	20230116	RGD			
155804258	BN/Rij		strain	DOID:9119	acute myeloid leukemia	treatment	IAGP		D	RGD:155804260|PMID:6589456	20230110	RGD			
155804258	BN/Rij		strain	DOID:9119	acute myeloid leukemia	treatment	IAGP		D	RGD:155804261|PMID:8319208	20230111	RGD			
1558640	Prcs2	Prostate cancer susceptibility QTL 2	qtl	DOID:9002304	Prostatic Neoplasms		IAGP		D	RGD:1358944|PMID:15805257	19990101	RGD			
1558641	Cm47	Cardiac mass QTL 47	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:1554311|PMID:16097372	19990101	RGD			
1558642	Prcr2	Prostate cancer resistance QTL 2	qtl	DOID:9002304	Prostatic Neoplasms		IAGP		D	RGD:1358944|PMID:15805257	19990101	RGD			
1558643	Cm44	Cardiac mass QTL 44	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:1554311|PMID:16097372	19990101	RGD			
1558644	Cm45	Cardiac mass QTL 45	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:1554311|PMID:16097372	19990101	RGD			
1558646	Swd5	Spike wave discharge measurement QTL 5	qtl	DOID:1825	childhood absence epilepsy		IAGP		D	RGD:1553898|PMID:15030491	19990101	RGD			
1558647	Cm46	Cardiac mass QTL 46	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:1554311|PMID:16097372	19990101	RGD			
1558648	Smcn1	Smooth muscle cell number QTL 1	qtl	DOID:520	aortic disease		IAGP		D	RGD:1357419|PMID:15741507	19990101	RGD			
1558650	Cm48	Cardiac mass QTL 48	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:1554311|PMID:16097372	19990101	RGD			
1558651	Swd3	Spike wave discharge measurement QTL 3	qtl	DOID:1825	childhood absence epilepsy		IAGP		D	RGD:1553898|PMID:15030491	19990101	RGD			
1558653	Prcr1	Prostate cancer resistance QTL 1	qtl	DOID:9002304	Prostatic Neoplasms		IAGP		D	RGD:1358944|PMID:15805257	19990101	RGD			
1558655	Swd4	Spike wave discharge measurement QTL 4	qtl	DOID:1825	childhood absence epilepsy		IAGP		D	RGD:1553898|PMID:15030491	19990101	RGD			
1558656	Prcs1	Prostate cancer susceptibility QTL 1	qtl	DOID:9002304	Prostatic Neoplasms		IAGP		D	RGD:1358944|PMID:15805257	19990101	RGD			
1558657	Cm43	Cardiac mass QTL 43	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:1554311|PMID:16097372	19990101	RGD			
1558659	Tescar1	Testicular tumor resistance QTL 1	qtl	DOID:9004207	Testicular Neoplasms		IAGP		D	RGD:1358944|PMID:15805257	19990101	RGD			
1558660	SHRSP/Tkyo		strain	DOID:10763	hypertension	MODEL: spontaneous	IAGP		D	RGD:1554311|PMID:16097372	19990101	RGD		compared to WKY/Tkyo	
1558660	SHRSP/Tkyo		strain	DOID:10763	hypertension	MODEL: spontaneous	IAGP		D	RGD:18337260|PMID:19015604	20200117	RGD			
1558660	SHRSP/Tkyo		strain	DOID:9003936	Cardiomegaly	MODEL: spontaneous	IAGP		D	RGD:1554311|PMID:16097372	19990101	RGD		compared to WKY/Tkyo	
1558660	SHRSP/Tkyo		strain	DOID:9003936	Cardiomegaly	MODEL: spontaneous	IAGP		D	RGD:18337260|PMID:19015604	20200117	RGD			
1558661	WKY/Tkyo		strain	DOID:10763	hypertension	MODEL: control	IAGP		D	RGD:1554311|PMID:16097372	20200110	RGD		compared to SHR/Tyko and SHRSP/Tyko	
1558661	WKY/Tkyo		strain	DOID:9003936	Cardiomegaly	MODEL: control	IAGP		D	RGD:1554311|PMID:16097372	20200110	RGD		compared to SHR/Tyko and SHRSP/Tyko	
1558662	SHR/Tkyo		strain	DOID:10763	hypertension	susceptibility	IAGP		D	RGD:1554311|PMID:16097372	19990101	RGD		compared to WKY/Tkyo	
1558662	SHR/Tkyo		strain	DOID:9003936	Cardiomegaly		IAGP		D	RGD:1554311|PMID:16097372	20200117	RGD		compared to WKY/Tkyo	
1559031	NE/Mave		strain	DOID:0070309	absence epilepsy		IAGP		D	RGD:150520046|PMID:19144837	20211116	RGD		compared to GAERS	
1559036	LEW/Jms		strain	DOID:1572	normal pressure hydrocephalus		IAGP		D	RGD:1559416|PMID:12541080	19990101	RGD			
1559039	ODS/Shi	Osteogenic disorder Shionogi	strain	DOID:13724	scurvy	induces	IAGP	XCO:0000691	D	RGD:1556471|PMID:11693268	20210428	RGD			
1559043	MV/Opu	myelin vacuolation rat	strain	DOID:9000495	Tremor		IAGP		D	RGD:1299186|PMID:12379762	20090216	RGD			
1559044	SS.SR-(<i>D3Mco19-D3Mco5</i>)/Jr		strain	DOID:9006024	Hypotension	induces	IAGP	XCO:0000022	D	RGD:69705|PMID:9922389	19990101	RGD		compared to SS/Jr	
1559045	LEW/Crlc		strain	DOID:9003631	Diastolic Dysfunction	MODEL: control	IAGP	XCO:0000022	D	RGD:8657131|PMID:23442991	20210113	RGD		compared to SS/JrHsd and congenic strains	
1559045	LEW/Crlc		strain	DOID:9004616	Left Ventricular Hypertrophy	MODEL: control	IAGP	XCO:0000022	D	RGD:8657131|PMID:23442991	20210113	RGD		compared to SS/JrHsd and congenic strains	
1559047	SHRSP/Ezo		strain	DOID:10914	amnestic disorder		IAGP		D	RGD:1556766|PMID:8610323	20200127	RGD		compared to WKY	
1559047	SHRSP/Ezo		strain	DOID:8725	vascular dementia	MODEL: spontaneous	IAGP		D	RGD:1556766|PMID:8610323	19990101	RGD		compared to WKY	
1559047	SHRSP/Ezo		strain	DOID:8725	vascular dementia	MODEL: spontaneous	IAGP		D	RGD:18936992|PMID:9072380	20200130	RGD		compared to WKY	
1559048	SHR.ODS-<i>Gulo<sup>od</sup></i>/Shi		strain	DOID:10763	hypertension		IAGP		D	RGD:1556471|PMID:11693268	19990101	RGD		compared to ODS/Jcl strain	
1559048	SHR.ODS-<i>Gulo<sup>od</sup></i>/Shi		strain	DOID:13724	scurvy	induces	IAGP	XCO:0000691	D	RGD:1556471|PMID:11693268	20090216	RGD			
1559055	Bp278	Blood pressure QTL 278	qtl	DOID:10763	hypertension		IAGP		D	RGD:1547847|PMID:15632271	19990101	RGD			
1559143	Zscan5b	zinc finger and SCAN domain containing 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2293895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559144	Zfp445	zinc finger protein 445	gene	DOID:10534	stomach cancer		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559144	Zfp445	zinc finger protein 445	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559144	Zfp445	zinc finger protein 445	gene	DOID:1909	melanoma		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559144	Zfp445	zinc finger protein 445	gene	DOID:3275	thymoma		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559144	Zfp445	zinc finger protein 445	gene	DOID:5041	esophageal cancer		ISO	RGD:1349162	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559144	Zfp445	zinc finger protein 445	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559144	Zfp445	zinc finger protein 445	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559144	Zfp445	zinc finger protein 445	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1559144	Zfp445	zinc finger protein 445	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559144	Zfp445	zinc finger protein 445	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559282	Emca5	Estrogen-induced mammary cancer QTL 5	qtl	DOID:9005233	Experimental Mammary Neoplasms		IDA		D	RGD:1642522|PMID:16885383	20120810	RGD			
1559283	Emca4	Estrogen-induced mammary cancer QTL 4	qtl	DOID:9005233	Experimental Mammary Neoplasms		IDA		D	RGD:1642522|PMID:16885383	20120810	RGD			
1559423	Itm2a	integral membrane protein 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559423	Itm2a	integral membrane protein 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559423	Itm2a	integral membrane protein 2A	gene	DOID:0080600	COVID-19		ISO	RGD:1354301	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1559423	Itm2a	integral membrane protein 2A	gene	DOID:3275	thymoma		ISO	RGD:1354301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559423	Itm2a	integral membrane protein 2A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1559423	Itm2a	integral membrane protein 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559423	Itm2a	integral membrane protein 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559423	Itm2a	integral membrane protein 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: RUNX1-related disorder	
1559427	Wwc2	WW and C2 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559427	Wwc2	WW and C2 domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559427	Wwc2	WW and C2 domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559427	Wwc2	WW and C2 domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559427	Wwc2	WW and C2 domain containing 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1605043	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1559427	Wwc2	WW and C2 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559427	Wwc2	WW and C2 domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559427	Wwc2	WW and C2 domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605043	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559427	Wwc2	WW and C2 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559427	Wwc2	WW and C2 domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559427	Wwc2	WW and C2 domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1559427	Wwc2	WW and C2 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559427	Wwc2	WW and C2 domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559427	Wwc2	WW and C2 domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1605043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:1324	lung cancer		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:1909	melanoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:305	carcinoma		ISO	RGD:1320297	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:3275	thymoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320297	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1320297	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1320297	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559436	Mrc2	mannose receptor, C type 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1557036	D	RGD:13592920	20190516	MouseDO			
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:1115	sarcoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:12849	autistic disorder		ISO	RGD:1342691	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17380209
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:1324	lung cancer		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:13580	cholestasis		ISO	RGD:1342691	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:1909	melanoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:303	substance-related disorder		ISO	RGD:1342691	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:3275	thymoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342691	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1342691	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559440	Cadps2	calcium dependent secretion activator 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1342691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:30628072
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1354337	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:0060058	lymphoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: dysmorphic features	PMID:25741868
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:0112045	non-syndromic X-linked intellectual disability 93		ISO	RGD:1354337	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:0112045	non-syndromic X-linked intellectual disability 93		ISO	RGD:1354337	D	RGD:7240710	20130425	OMIM			
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:0112045	non-syndromic X-linked intellectual disability 93		ISO	RGD:1354337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: BRWD3-Related Disorder | ClinVar Annotator: match by term: BRWD3-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 | ClinVar Annotator: match by term: Intellectual disability, X-linked 93 | ClinVar Annotator: match by term: Mental retardation, X-linked 93 | ClinVar Annotator: match by term: X-linked intellectual developmental disorder-93	PMID:17668385|PMID:23425632|PMID:24462886|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30628072|PMID:31714006|PMID:36414205|PMID:36514184|PMID:39283677
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:1059	intellectual disability		ISO	RGD:1354337	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:12849	autistic disorder		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:2468	psychotic disorder		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:2841	asthma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:4428	dyslexia		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1354337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:630	genetic disease		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:36414205|PMID:9536098
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:6364	migraine		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:6543	acne		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9000053	Headache		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9001224	Striae Distensae		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9001581	Constipation		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cognitive impairment	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1354337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354337	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9007573	Flatfoot		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Developmental Delay | ClinVar Annotator: match by term: Global developmental delay	PMID:36937954
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1559445	Brwd3	bromodomain and WD repeat domain containing 3	gene	DOID:9970	obesity		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1559446	Zfp92	ZFP92 zinc finger protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559446	Zfp92	ZFP92 zinc finger protein	gene	DOID:0050800	cerebral creatine deficiency syndrome 1		ISO	RGD:1344727	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: SLC6A8-related condition	PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614
1559448	C3h20orf96	similar to human chromosome 20 open reading frame 96	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559448	C3h20orf96	similar to human chromosome 20 open reading frame 96	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559448	C3h20orf96	similar to human chromosome 20 open reading frame 96	gene	DOID:10534	stomach cancer		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559448	C3h20orf96	similar to human chromosome 20 open reading frame 96	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559448	C3h20orf96	similar to human chromosome 20 open reading frame 96	gene	DOID:4362	cervical cancer		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559448	C3h20orf96	similar to human chromosome 20 open reading frame 96	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559448	C3h20orf96	similar to human chromosome 20 open reading frame 96	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559448	C3h20orf96	similar to human chromosome 20 open reading frame 96	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559448	C3h20orf96	similar to human chromosome 20 open reading frame 96	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559449	Stradb	STE20 related adaptor beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559449	Stradb	STE20 related adaptor beta	gene	DOID:1115	sarcoma		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559449	Stradb	STE20 related adaptor beta	gene	DOID:4362	cervical cancer		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559449	Stradb	STE20 related adaptor beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559449	Stradb	STE20 related adaptor beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559449	Stradb	STE20 related adaptor beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559449	Stradb	STE20 related adaptor beta	gene	DOID:9003566	Mesothelioma		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1559449	Stradb	STE20 related adaptor beta	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1559449	Stradb	STE20 related adaptor beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559450	Tmem102	transmembrane protein 102	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604962	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559450	Tmem102	transmembrane protein 102	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559450	Tmem102	transmembrane protein 102	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559451	Erich6	glutamate-rich 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559451	Erich6	glutamate-rich 6	gene	DOID:10534	stomach cancer		ISO	RGD:1605578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559451	Erich6	glutamate-rich 6	gene	DOID:1324	lung cancer		ISO	RGD:1605578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559451	Erich6	glutamate-rich 6	gene	DOID:3275	thymoma		ISO	RGD:1605578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559451	Erich6	glutamate-rich 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559451	Erich6	glutamate-rich 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559456	Six6os1	Six6 opposite strand transcript 1	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1350418	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	
1559456	Six6os1	Six6 opposite strand transcript 1	gene	DOID:0112269	primary ovarian insufficiency 18		ISO	RGD:1350418	D	RGD:7240710	20210303	OMIM			
1559456	Six6os1	Six6 opposite strand transcript 1	gene	DOID:0112269	primary ovarian insufficiency 18		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: C14orf39-related disorder | ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 18 | ClinVar Annotator: match by term: Premature ovarian failure 18	PMID:25741868
1559456	Six6os1	Six6 opposite strand transcript 1	gene	DOID:0112270	spermatogenic failure 52		ISO	RGD:1350418	D	RGD:7240710	20210303	OMIM			
1559456	Six6os1	Six6 opposite strand transcript 1	gene	DOID:0112270	spermatogenic failure 52		ISO	RGD:1350418	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 52 | ClinVar Annotator: match by term: Spermatogenic failure 52	PMID:25741868
1559456	Six6os1	Six6 opposite strand transcript 1	gene	DOID:1324	lung cancer		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559456	Six6os1	Six6 opposite strand transcript 1	gene	DOID:3275	thymoma		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559456	Six6os1	Six6 opposite strand transcript 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1559456	Six6os1	Six6 opposite strand transcript 1	gene	DOID:4362	cervical cancer		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559456	Six6os1	Six6 opposite strand transcript 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1350418	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inherited primary ovarian failure	PMID:25741868
1559456	Six6os1	Six6 opposite strand transcript 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559456	Six6os1	Six6 opposite strand transcript 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559456	Six6os1	Six6 opposite strand transcript 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559457	Sp9	Sp9 transcription factor	gene	DOID:1059	intellectual disability		ISO	RGD:2303677	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:38288683
1559457	Sp9	Sp9 transcription factor	gene	DOID:12849	autistic disorder		ISO	RGD:2303677	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1559457	Sp9	Sp9 transcription factor	gene	DOID:1824	status epilepticus		ISO	RGD:2303677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized convulsive status epilepticus	
1559457	Sp9	Sp9 transcription factor	gene	DOID:1826	epilepsy		ISO	RGD:2303677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:38288683
1559457	Sp9	Sp9 transcription factor	gene	DOID:1827	generalized epilepsy		ISO	RGD:2303677	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:38288683
1559457	Sp9	Sp9 transcription factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:2303677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1559457	Sp9	Sp9 transcription factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:2303677	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:38288683
1559457	Sp9	Sp9 transcription factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:2303677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:38288683
1559459	Ugt2b34l1	UDP glucuronosyltransferase 2 family, polypeptide B34 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559459	Ugt2b34l1	UDP glucuronosyltransferase 2 family, polypeptide B34 like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559459	Ugt2b34l1	UDP glucuronosyltransferase 2 family, polypeptide B34 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0050902	medulloblastoma		IGI	RGD:1309773	D	RGD:150573693|PMID:27234928	20220107	RGD			
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0050902	medulloblastoma		ISO	RGD:1346700	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0050902	medulloblastoma		ISO	RGD:1346700	D	RGD:1599191|PMID:12068298	20070118	RGD			
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0050902	medulloblastoma		ISO	RGD:1346700	D	RGD:7240710	20260805	OMIM			
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0050902	medulloblastoma		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA | ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma	PMID:12068298|PMID:17452975|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:24728327|PMID:25326637|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27363716|PMID:27793025|PMID:27993330|PMID:28492532|PMID:28726821|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29725392|PMID:29753700|PMID:30256826|PMID:31774708|PMID:32295625|PMID:32330099|PMID:33024317|PMID:34070849|PMID:34308104|PMID:9536098
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0060071	pre-malignant neoplasm		IEP		D	RGD:150520178|PMID:30537251	20220112	RGD		mRNA:decreased expression:stomach mucosa (rat)	
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0070365	nevoid basal cell carcinoma syndrome 1		ISO	RGD:1346700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Basal cell nevus syndrome 1	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29641532|PMID:34070849
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0070366	nevoid basal cell carcinoma syndrome 2		ISO	RGD:1346700	D	RGD:7240710	20260805	OMIM			
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0070366	nevoid basal cell carcinoma syndrome 2		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2	PMID:12068298|PMID:17452975|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:25403219|PMID:25741868|PMID:28492532|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29725392|PMID:29753700|PMID:30192042|PMID:33024317|PMID:9536098
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0080278	Joubert syndrome 32		ISO	RGD:1346700	D	RGD:7240710	20260805	OMIM			
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0080278	Joubert syndrome 32		ISO	RGD:1346700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 32 | ClinVar Annotator: match by term: Joubert syndrome 32	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28965847|PMID:34070849
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1346700	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified	PMID:25741868|PMID:28492532
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:0080849	ocular motor apraxia, Cogan type		ISO	RGD:1346700	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Oculomotor apraxia - Cogan type	PMID:25741868|PMID:33024317
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:10283	prostate cancer		ISO	RGD:1346700	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:28492532
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:10283	prostate cancer		ISO	RGD:1346700	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:28492532
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:2120	focal dermal hypoplasia		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GORLIN-GOLTZ SYNDROME	PMID:28492532
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1346700	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome	PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23265383|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:32278351|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:36825822|PMID:9536098
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1346700	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome	PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23265383|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:32278351|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:34675124|PMID:35768194|PMID:36825822|PMID:9536098
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1346700	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES	PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27153395|PMID:27363716|PMID:27793025|PMID:27930734|PMID:28030567|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:31781912|PMID:32295625|PMID:32830346|PMID:33024317|PMID:33057194|PMID:33193598|PMID:33726816|PMID:34056767|PMID:34070849|PMID:34308104|PMID:34589056|PMID:34675124|PMID:35768194|PMID:35982159|PMID:9536098
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome	PMID:12068298|PMID:16199547|PMID:17452975|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:24651015|PMID:24728327|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27793025|PMID:27930734|PMID:28030567|PMID:28492532|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29725392|PMID:29753700|PMID:30256826|PMID:31639285|PMID:31781912|PMID:32295625|PMID:33024317|PMID:34070849|PMID:34308104|PMID:34589056|PMID:34675124|PMID:9536098
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:2512	nevoid basal cell carcinoma syndrome		ISS	RGD:1556878	D	RGD:13592920	20230511	MouseDO		OMIM:109400	
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1346700	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26950094
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:3073	brain glioblastoma multiforme		IEP		D	RGD:150573813|PMID:30790292	20220112	RGD		human, rat, and/or mouse glioma cells in a mouse model	
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:3081	cystic lymphangioma		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	PMID:22958902|PMID:25741868
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:16294371|PMID:27993330|PMID:29461635
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:3565	meningioma		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:35101336
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:4586	familial meningioma		ISO	RGD:1346700	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:4586	familial meningioma		ISO	RGD:1346700	D	RGD:7240710	20260805	OMIM			
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:4586	familial meningioma		ISO	RGD:1346700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to	PMID:22958902|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28965847|PMID:29641532|PMID:34070849
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:4621	holoprosencephaly		ISO	RGD:1346700	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Microform holoprosencephaly	PMID:24728327|PMID:27363716|PMID:28492532
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:22508808|PMID:25403219|PMID:28492532|PMID:33024317|PMID:34675124
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:8418	congenital fibrosarcoma		ISO	RGD:1346700	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital fibrosarcoma	PMID:22508808|PMID:25403219|PMID:28492532|PMID:33024317|PMID:35768194
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	PMID:22958902|PMID:25741868
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346700	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9006050	undifferentiated sarcoma		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: undifferentiated sarcoma	PMID:16294371|PMID:27993330|PMID:28726821|PMID:29461635
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:26467025|PMID:28492532
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1346700	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12068298|PMID:17102621|PMID:17576681|PMID:21188540|PMID:22508808|PMID:23826113|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26184317|PMID:26467025|PMID:26580448|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28166811|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:9536098
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1346700	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12068298|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:34675124|PMID:35768194|PMID:36825822|PMID:9536098
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1346700	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12068298|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27793025|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:34675124|PMID:35768194|PMID:36825822|PMID:37140698|PMID:9536098
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1346700	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27153395|PMID:27363716|PMID:27793025|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:32830346|PMID:33024317|PMID:33057194|PMID:33193598|PMID:34056767|PMID:34070849|PMID:34589056|PMID:34675124|PMID:35768194|PMID:35982159|PMID:36825822|PMID:37140698|PMID:9536098
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1346700	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27153395|PMID:27363716|PMID:27793025|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:32830346|PMID:33024317|PMID:33057194|PMID:33193598|PMID:34056767|PMID:34070849|PMID:34589056|PMID:34675124|PMID:35768194|PMID:35982159|PMID:36825822|PMID:37140698|PMID:37658656|PMID:9536098
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12068298|PMID:17452975|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27363716|PMID:27793025|PMID:28492532|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29725392|PMID:29753700|PMID:30256826|PMID:32295625|PMID:33024317|PMID:34070849|PMID:34308104|PMID:37140698|PMID:37658656|PMID:9536098
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559462	Sufu	SUFU negative regulator of hedgehog signaling	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1346700	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1559463	Stoml1	stomatin like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559463	Stoml1	stomatin like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559463	Stoml1	stomatin like 1	gene	DOID:3275	thymoma		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559463	Stoml1	stomatin like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559463	Stoml1	stomatin like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559463	Stoml1	stomatin like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559463	Stoml1	stomatin like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559463	Stoml1	stomatin like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559468	Mdc1	mediator of DNA damage checkpoint 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559468	Mdc1	mediator of DNA damage checkpoint 1	gene	DOID:0070311	oligoasthenoteratozoospermia		ISO	RGD:1348817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligoasthenoteratozoospermia	PMID:16377563|PMID:25741868
1559468	Mdc1	mediator of DNA damage checkpoint 1	gene	DOID:1909	melanoma		ISO	RGD:1348817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559468	Mdc1	mediator of DNA damage checkpoint 1	gene	DOID:3459	breast carcinoma		ISO	RGD:1348817	D	RGD:9589053|PMID:17546051	20141105	RGD		protein:decreased expression:breast (human)	
1559468	Mdc1	mediator of DNA damage checkpoint 1	gene	DOID:3905	lung carcinoma		ISO	RGD:1348817	D	RGD:9589053|PMID:17546051	20141105	RGD		protein:decreased expression:bronchus, parenchyma (human)	
1559468	Mdc1	mediator of DNA damage checkpoint 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348817	D	RGD:9589052|PMID:21853275	20141105	RGD		mRNA, protein:increased expression:uterine cervix (human)	
1559468	Mdc1	mediator of DNA damage checkpoint 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348817	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559468	Mdc1	mediator of DNA damage checkpoint 1	gene	DOID:5517	stomach carcinoma	severity	ISO	RGD:1348817	D	RGD:9589059|PMID:23569343	20141105	RGD		protein:decreased expression:stomach (human)	
1559468	Mdc1	mediator of DNA damage checkpoint 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1348817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1559468	Mdc1	mediator of DNA damage checkpoint 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559468	Mdc1	mediator of DNA damage checkpoint 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559468	Mdc1	mediator of DNA damage checkpoint 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559468	Mdc1	mediator of DNA damage checkpoint 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1348817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1559468	Mdc1	mediator of DNA damage checkpoint 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559469	Ror1	receptor tyrosine kinase-like orphan receptor 1	gene	DOID:0080263	autosomal recessive nonsyndromic deafness 108		ISO	RGD:1352147	D	RGD:7240710	20190315	OMIM			
1559469	Ror1	receptor tyrosine kinase-like orphan receptor 1	gene	DOID:0080263	autosomal recessive nonsyndromic deafness 108		ISO	RGD:1352147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 108 | ClinVar Annotator: match by term: ROR1-related condition	PMID:25741868|PMID:26467025|PMID:28492532
1559469	Ror1	receptor tyrosine kinase-like orphan receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559469	Ror1	receptor tyrosine kinase-like orphan receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1352147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559469	Ror1	receptor tyrosine kinase-like orphan receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1352147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559469	Ror1	receptor tyrosine kinase-like orphan receptor 1	gene	DOID:1909	melanoma		ISO	RGD:1352147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559469	Ror1	receptor tyrosine kinase-like orphan receptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1559469	Ror1	receptor tyrosine kinase-like orphan receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559469	Ror1	receptor tyrosine kinase-like orphan receptor 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1352147	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:28114269
1559469	Ror1	receptor tyrosine kinase-like orphan receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559469	Ror1	receptor tyrosine kinase-like orphan receptor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352147	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:28114269
1559473	Ccdc3	coiled-coil domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559473	Ccdc3	coiled-coil domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1351886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559473	Ccdc3	coiled-coil domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1351886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559473	Ccdc3	coiled-coil domain containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351886	D	RGD:8554872	20190409	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:26614431
1559473	Ccdc3	coiled-coil domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559473	Ccdc3	coiled-coil domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559473	Ccdc3	coiled-coil domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559476	Fmc1	formation of mitochondrial complex V assembly factor 1	gene	DOID:13548	secondary Parkinson disease		ISO	RGD:1606950	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29371327
1559476	Fmc1	formation of mitochondrial complex V assembly factor 1	gene	DOID:9002877	Parkinson's Disease, Mitochondrial		ISO	RGD:1606950	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29371327
1559479	Tpm2	tropomyosin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559479	Tpm2	tropomyosin 2	gene	DOID:0060260	ptosis		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
1559479	Tpm2	tropomyosin 2	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1605428	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:25741868
1559479	Tpm2	tropomyosin 2	gene	DOID:0080600	COVID-19		ISO	RGD:1605428	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1559479	Tpm2	tropomyosin 2	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1605428	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arthrogryposis	PMID:17339586|PMID:17430991|PMID:23678273|PMID:23886664|PMID:24692096|PMID:25741868|PMID:28492532|PMID:29068549|PMID:32092148
1559479	Tpm2	tropomyosin 2	gene	DOID:0110932	congenital myopathy 23		ISO	RGD:1605428	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1559479	Tpm2	tropomyosin 2	gene	DOID:0110932	congenital myopathy 23		ISO	RGD:1605428	D	RGD:7240710	20130221	OMIM			
1559479	Tpm2	tropomyosin 2	gene	DOID:0110932	congenital myopathy 23		ISO	RGD:1605428	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 23 | ClinVar Annotator: match by term: Congenital myopathy 23 | ClinVar Annotator: match by term: Nemaline myopathy 4, autosomal dominant | ClinVar Annotator: match by term: TPM2-related cap myopathy	PMID:11738357|PMID:18789687|PMID:20301436|PMID:22084935|PMID:22832343|PMID:23401156|PMID:23689010|PMID:23886664|PMID:24657080|PMID:24692096|PMID:25741868|PMID:27854218|PMID:28492532|PMID:28881016|PMID:31966463|PMID:33060286|PMID:34008892|PMID:35052370|PMID:35579956|PMID:38071834
1559479	Tpm2	tropomyosin 2	gene	DOID:0111596	distal arthrogryposis type 1		ISO	RGD:1605428	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I | ClinVar Annotator: match by term: Digitotalar dysmorphism	PMID:11738357|PMID:17339586|PMID:17430991|PMID:18789687|PMID:19155175|PMID:20301436|PMID:22084935|PMID:23678273|PMID:23689010|PMID:23886664|PMID:24657080|PMID:24692096|PMID:25741868|PMID:27726070|PMID:28492532|PMID:28881016|PMID:29068549|PMID:32092148
1559479	Tpm2	tropomyosin 2	gene	DOID:0111597	distal arthrogryposis type 1A		ISO	RGD:1605428	D	RGD:7240710	20130221	OMIM			
1559479	Tpm2	tropomyosin 2	gene	DOID:0111597	distal arthrogryposis type 1A		ISO	RGD:1605428	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A | ClinVar Annotator: match by term: Distal arthrogryposis type 1A	PMID:16199547|PMID:17339586|PMID:17430991|PMID:17576681|PMID:19047562|PMID:19155175|PMID:22749895|PMID:22832343|PMID:22980765|PMID:23401156|PMID:23678273|PMID:23886664|PMID:24039757|PMID:24214167|PMID:24692096|PMID:25741868|PMID:27726070|PMID:28492532|PMID:29068549|PMID:31966463|PMID:32092148|PMID:33060286|PMID:35052370|PMID:35579956|PMID:38071834|PMID:9536098
1559479	Tpm2	tropomyosin 2	gene	DOID:0111599	distal arthrogryposis type 2B		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B	PMID:25741868
1559479	Tpm2	tropomyosin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559479	Tpm2	tropomyosin 2	gene	DOID:10907	microcephaly		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
1559479	Tpm2	tropomyosin 2	gene	DOID:11836	clubfoot		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
1559479	Tpm2	tropomyosin 2	gene	DOID:3191	nemaline myopathy		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy	PMID:25741868
1559479	Tpm2	tropomyosin 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1605428	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
1559479	Tpm2	tropomyosin 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1559479	Tpm2	tropomyosin 2	gene	DOID:423	myopathy		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
1559479	Tpm2	tropomyosin 2	gene	DOID:540	strabismus		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
1559479	Tpm2	tropomyosin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559479	Tpm2	tropomyosin 2	gene	DOID:630	genetic disease		ISO	RGD:1605428	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11738357|PMID:18789687|PMID:20301436|PMID:22084935|PMID:23689010|PMID:23886664|PMID:24657080|PMID:24692096|PMID:25741868|PMID:28492532|PMID:28881016|PMID:35579956
1559479	Tpm2	tropomyosin 2	gene	DOID:9001483	Distal Arthrogryposis Type 2B4		ISO	RGD:1605428	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B4 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B4	PMID:17339586|PMID:17430991|PMID:23678273|PMID:23886664|PMID:24692096|PMID:25741868|PMID:28492532|PMID:29068549|PMID:32092148
1559479	Tpm2	tropomyosin 2	gene	DOID:9001581	Constipation		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
1559479	Tpm2	tropomyosin 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cognitive impairment	
1559479	Tpm2	tropomyosin 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
1559479	Tpm2	tropomyosin 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
1559479	Tpm2	tropomyosin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559479	Tpm2	tropomyosin 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
1559493	Cimap2	ciliary microtubule associated protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603553	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559493	Cimap2	ciliary microtubule associated protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559493	Cimap2	ciliary microtubule associated protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559496	Sprtn	SprT-like N-terminal domain	gene	DOID:0111264	Ruijs-Aalfs syndrome		ISO	RGD:1605027	D	RGD:7240710	20150218	OMIM			
1559496	Sprtn	SprT-like N-terminal domain	gene	DOID:0111264	Ruijs-Aalfs syndrome		ISO	RGD:1605027	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome	
1559496	Sprtn	SprT-like N-terminal domain	gene	DOID:14228	oligospermia		ISO	RGD:1605027	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868
1559496	Sprtn	SprT-like N-terminal domain	gene	DOID:1909	melanoma		ISO	RGD:1605027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559496	Sprtn	SprT-like N-terminal domain	gene	DOID:3911	progeria		ISO	RGD:1605027	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25261934
1559496	Sprtn	SprT-like N-terminal domain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559496	Sprtn	SprT-like N-terminal domain	gene	DOID:630	genetic disease		ISO	RGD:1605027	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1559496	Sprtn	SprT-like N-terminal domain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605027	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25261934
1559496	Sprtn	SprT-like N-terminal domain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559496	Sprtn	SprT-like N-terminal domain	gene	DOID:9002981	Genomic Instability		ISO	RGD:1605027	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25261934
1559496	Sprtn	SprT-like N-terminal domain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1559496	Sprtn	SprT-like N-terminal domain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559496	Sprtn	SprT-like N-terminal domain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559497	Trim65	tripartite motif-containing 65	gene	DOID:10534	stomach cancer		ISO	RGD:1352380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559497	Trim65	tripartite motif-containing 65	gene	DOID:1115	sarcoma		ISO	RGD:1352380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559497	Trim65	tripartite motif-containing 65	gene	DOID:1909	melanoma		ISO	RGD:1352380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559497	Trim65	tripartite motif-containing 65	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559497	Trim65	tripartite motif-containing 65	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559498	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:1115	sarcoma		ISO	RGD:2293495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559498	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:2293495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559498	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:2293495	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition	PMID:25741868
1559498	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2293495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559498	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2293495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559498	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:7475	diverticulitis		ISO	RGD:2293495	D	RGD:11554173	20181113	CTD		CTD Direct Evidence: marker/mechanism	PMID:28585551
1559498	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2293495	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868
1559498	Nalf1	NALCN channel auxiliary factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2293495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559502	Ssmem1	serine-rich single-pass membrane protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559504	Ankrd39	ankyrin repeat domain 39	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559504	Ankrd39	ankyrin repeat domain 39	gene	DOID:3275	thymoma		ISO	RGD:1602717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559504	Ankrd39	ankyrin repeat domain 39	gene	DOID:5041	esophageal cancer		ISO	RGD:1602717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559505	Tmem170a	transmembrane protein 170A	gene	DOID:1115	sarcoma		ISO	RGD:1604539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559505	Tmem170a	transmembrane protein 170A	gene	DOID:1324	lung cancer		ISO	RGD:1604539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559505	Tmem170a	transmembrane protein 170A	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1604539	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1559509	Znf568l-ps1	zinc finger protein 568 like, pseudogene 1	gene	DOID:1115	sarcoma		ISO	RGD:1342686	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559509	Znf568l-ps1	zinc finger protein 568 like, pseudogene 1	gene	DOID:1324	lung cancer		ISO	RGD:1342686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559509	Znf568l-ps1	zinc finger protein 568 like, pseudogene 1	gene	DOID:3275	thymoma		ISO	RGD:1342686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559509	Znf568l-ps1	zinc finger protein 568 like, pseudogene 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559509	Znf568l-ps1	zinc finger protein 568 like, pseudogene 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342686	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559509	Znf568l-ps1	zinc finger protein 568 like, pseudogene 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559509	Znf568l-ps1	zinc finger protein 568 like, pseudogene 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559509	Znf568l-ps1	zinc finger protein 568 like, pseudogene 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559509	Znf568l-ps1	zinc finger protein 568 like, pseudogene 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559511	Rmnd5b	required for meiotic nuclear division 5 homolog B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559511	Rmnd5b	required for meiotic nuclear division 5 homolog B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559511	Rmnd5b	required for meiotic nuclear division 5 homolog B	gene	DOID:1115	sarcoma		ISO	RGD:1604317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559511	Rmnd5b	required for meiotic nuclear division 5 homolog B	gene	DOID:1324	lung cancer		ISO	RGD:1604317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559511	Rmnd5b	required for meiotic nuclear division 5 homolog B	gene	DOID:1909	melanoma		ISO	RGD:1604317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559511	Rmnd5b	required for meiotic nuclear division 5 homolog B	gene	DOID:3275	thymoma		ISO	RGD:1604317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559511	Rmnd5b	required for meiotic nuclear division 5 homolog B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559511	Rmnd5b	required for meiotic nuclear division 5 homolog B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604317	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1559511	Rmnd5b	required for meiotic nuclear division 5 homolog B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559517	Pabpc4l	poly(A) binding protein, cytoplasmic 4-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2290032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559517	Pabpc4l	poly(A) binding protein, cytoplasmic 4-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2290032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559518	Ttbk1	tau tubulin kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559518	Ttbk1	tau tubulin kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559518	Ttbk1	tau tubulin kinase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1350960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1559518	Ttbk1	tau tubulin kinase 1	gene	DOID:10907	microcephaly		ISO	RGD:1350960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1559518	Ttbk1	tau tubulin kinase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1350960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
1559518	Ttbk1	tau tubulin kinase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1350960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1559518	Ttbk1	tau tubulin kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1350960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559518	Ttbk1	tau tubulin kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559518	Ttbk1	tau tubulin kinase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1559518	Ttbk1	tau tubulin kinase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350960	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1559518	Ttbk1	tau tubulin kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559518	Ttbk1	tau tubulin kinase 1	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1350960	D	RGD:8554872	20151208	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
1559518	Ttbk1	tau tubulin kinase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1350960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1559521	Dbndd2	dysbindin domain containing 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313063	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1559522	Fam186b	family with sequence similarity 186, member B	gene	DOID:12712	nephronophthisis		ISO	RGD:1604773	D	RGD:8554872	20180807	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:26489029
1559522	Fam186b	family with sequence similarity 186, member B	gene	DOID:3275	thymoma		ISO	RGD:1604773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559522	Fam186b	family with sequence similarity 186, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559522	Fam186b	family with sequence similarity 186, member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559527	Boll	boule RNA binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1352689	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559527	Boll	boule RNA binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1352689	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559527	Boll	boule RNA binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1352689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559527	Boll	boule RNA binding protein	gene	DOID:1909	melanoma		ISO	RGD:1352689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559527	Boll	boule RNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1352689	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559527	Boll	boule RNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559527	Boll	boule RNA binding protein	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1352689	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
1559530	Nxf2	nuclear RNA export factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1626558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:0070593	spermatogenic failure 94		ISO	RGD:1605975	D	RGD:7240710	20240710	OMIM			
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:0070593	spermatogenic failure 94		ISO	RGD:1605975	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 94 | ClinVar Annotator: match by term: Spermatogenic failure 94	PMID:25741868|PMID:38441556|PMID:39245651
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:10534	stomach cancer		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:1115	sarcoma		ISO	RGD:1605975	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:12336	male infertility		ISS	RGD:1615819	D	RGD:13592920	20240208	MouseDO			
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:1324	lung cancer		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:1909	melanoma		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:2394	ovarian cancer		ISO	RGD:1605975	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:3070	high grade glioma		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:3275	thymoma		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:4362	cervical cancer		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:5041	esophageal cancer		ISO	RGD:1605975	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559535	Ccdc146	coiled-coil domain containing 146	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1345405	D	RGD:10450601|PMID:9171997	20160119	RGD		DNA:deletion: :	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1345405	D	RGD:10450605|PMID:18476590	20160119	RGD		DNA:translocation: :	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1345405	D	RGD:1581019|PMID:12203785	19990101	RGD			
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISO	RGD:1345405	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1	PMID:25741868
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1345405	D	RGD:10450608|PMID:9044825	20160119	RGD		DNA:translocation: :	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1345405	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15217836|PMID:24413735|PMID:25807284
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1345405	D	RGD:10450724|PMID:9539781	20160120	RGD		DNA:translocation: :	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:1115	sarcoma		ISO	RGD:1345405	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:1240	leukemia		ISO	RGD:1345405	D	RGD:10450609|PMID:9326218	20160119	RGD		DNA:translocation: :	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1345405	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:22162831|PMID:35101336
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1345405	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia	PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27895058|PMID:28492532|PMID:31064749|PMID:9694803
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:1588	thrombocytopenia		ISO	RGD:1345405	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25581430|PMID:25807284
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:1588	thrombocytopenia		ISO	RGD:1345405	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia | ClinVar Annotator: match by term: thrombocytopenia	PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:26102509|PMID:26522332|PMID:27450272|PMID:27895058|PMID:28492532|PMID:28555414|PMID:31064749|PMID:31248877|PMID:32581362|PMID:32693409|PMID:33692849|PMID:34355501|PMID:36350827|PMID:36867579|PMID:37586297|PMID:9694803
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1345405	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:2226	myeloproliferative neoplasm		ISO	RGD:1345405	D	RGD:10450606|PMID:12181402	20160119	RGD		DNA:translocation: :	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:2531	hematologic cancer		ISO	RGD:1345405	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: hematologic malignancy	PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27663637|PMID:27666367|PMID:27895058|PMID:28492532|PMID:31064749|PMID:31248877|PMID:31704777|PMID:32367453|PMID:32841218|PMID:33768492|PMID:35101336|PMID:9694803
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:303	substance-related disorder		ISO	RGD:1345405	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:1345405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:630	genetic disease		ISO	RGD:1345405	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15806161|PMID:17988997|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25741868|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27895058|PMID:28485484|PMID:28492532|PMID:29034503|PMID:29146883|PMID:31911633|PMID:32693409|PMID:33179473|PMID:33533142|PMID:35101336|PMID:36050548|PMID:37450374|PMID:9694803
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1345405	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9001067	Familial Macrocytosis		ISO	RGD:1345405	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25807284
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9003417	Menorrhagia		ISO	RGD:1345405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Menorrhagia	PMID:25741868|PMID:34355501
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9005805	Thrombocytopenia 5		ISO	RGD:1345405	D	RGD:7240710	20170419	OMIM			
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9005805	Thrombocytopenia 5		ISO	RGD:1345405	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: THROMBOCYTOPENIA 5 | ClinVar Annotator: match by term: THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 5 | ClinVar Annotator: match by term: Thrombocytopenia 5	PMID:15806161|PMID:17988997|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27450272|PMID:27663637|PMID:27895058|PMID:28104920|PMID:28492532|PMID:28555414|PMID:29758562|PMID:31248877|PMID:31911633|PMID:32693409|PMID:33179473|PMID:33533142|PMID:33692849|PMID:36350827|PMID:36867579|PMID:37586297|PMID:38735735|PMID:9694803
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9006532	Hematologic Neoplasms		ISO	RGD:1345405	D	RGD:10450600|PMID:11319801	20160119	RGD		DNA:translocation: :	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9006532	Hematologic Neoplasms		ISO	RGD:1345405	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25581430
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345405	D	RGD:10450601|PMID:9171997	20160119	RGD		DNA:deletion: :	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345405	D	RGD:10450603|PMID:12161353	20160119	RGD		DNA:translocation: :	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345405	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345405	D	RGD:1599805|PMID:10502316	20160119	RGD		DNA:translocation: :t(5;12)(q31;p13) (human)	
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345405	D	RGD:7240710	20130221	OMIM			
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345405	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: ETV6-related condition | ClinVar Annotator: match by term: LEUKEMIA, ACUTE MYELOID, SOMATIC	PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27895058|PMID:28492532|PMID:29365323|PMID:31064749|PMID:32693409|PMID:33533142|PMID:35101336|PMID:9694803
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345405	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: CEBPA-related disorder | ClinVar Annotator: match by term: ETV6-related condition | ClinVar Annotator: match by term: LEUKEMIA, ACUTE MYELOID, SOMATIC | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25741868|PMID:26102509|PMID:26522332|PMID:27895058|PMID:28492532|PMID:29365323|PMID:32693409|PMID:33533142|PMID:9694803
1559537	Etv6	ETS variant transcription factor 6	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1345405	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:17255265
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:25741868|PMID:28492532|PMID:39214134
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:0070493	mitochondrial complex IV deficiency nuclear type 4		ISO	RGD:1344696	D	RGD:7240710	20201111	OMIM			
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:0070493	mitochondrial complex IV deficiency nuclear type 4		ISO	RGD:1344696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 4 | ClinVar Annotator: match by term: SCO1-related condition	PMID:11013136|PMID:23878101|PMID:25741868|PMID:28492532
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:114	heart disease		ISO	RGD:1344696	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23345593
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:3275	thymoma		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:3652	Leigh disease		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1344696	D	RGD:11554173	20250708	CTD		CTD Direct Evidence: marker/mechanism	
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISS	RGD:1617578	D	RGD:13592920	20201029	MouseDO		OMIM:220110	
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:409	liver disease		ISO	RGD:1344696	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23345593
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:630	genetic disease		ISO	RGD:1344696	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1344696	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17182746
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1344696	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864674
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:936	brain disease		ISO	RGD:1344696	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23345593
1559538	Sco1	synthesis of cytochrome C oxidase 1	gene	DOID:936	brain disease		ISO	RGD:1344696	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Infantile encephalopathy	PMID:25741868|PMID:28492532
1559541	Defb24	defensin beta 24	gene	DOID:229	female reproductive system disease		ISS	RGD:1615624	D	RGD:13592920	20230202	MouseDO			
1559546	Wdr53	WD repeat domain 53	gene	DOID:1115	sarcoma		ISO	RGD:1344468	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559546	Wdr53	WD repeat domain 53	gene	DOID:4362	cervical cancer		ISO	RGD:1344468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559546	Wdr53	WD repeat domain 53	gene	DOID:5041	esophageal cancer		ISO	RGD:1344468	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559546	Wdr53	WD repeat domain 53	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559547	Cox18	cytochrome c oxidase assembly factor COX18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559547	Cox18	cytochrome c oxidase assembly factor COX18	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1604709	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:25741868
1559547	Cox18	cytochrome c oxidase assembly factor COX18	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1604709	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1559547	Cox18	cytochrome c oxidase assembly factor COX18	gene	DOID:10534	stomach cancer		ISO	RGD:1604709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559547	Cox18	cytochrome c oxidase assembly factor COX18	gene	DOID:1324	lung cancer		ISO	RGD:1604709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559547	Cox18	cytochrome c oxidase assembly factor COX18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559547	Cox18	cytochrome c oxidase assembly factor COX18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559547	Cox18	cytochrome c oxidase assembly factor COX18	gene	DOID:9009422	Charcot-Marie-Tooth disease, axonal, type 2MM		ISO	RGD:1604709	D	RGD:7240710	20260311	OMIM			
1559547	Cox18	cytochrome c oxidase assembly factor COX18	gene	DOID:9009422	Charcot-Marie-Tooth disease, axonal, type 2MM		ISO	RGD:1604709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2MM	
1559547	Cox18	cytochrome c oxidase assembly factor COX18	gene	DOID:9009423	mitochondrial complex IV deficiency nuclear type 25		ISO	RGD:1604709	D	RGD:7240710	20260311	OMIM			
1559547	Cox18	cytochrome c oxidase assembly factor COX18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559548	Tmem232	transmembrane protein 232	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:3029048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559548	Tmem232	transmembrane protein 232	gene	DOID:12849	autistic disorder		ISO	RGD:3029048	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism	
1559548	Tmem232	transmembrane protein 232	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:3029048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559548	Tmem232	transmembrane protein 232	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3029048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559548	Tmem232	transmembrane protein 232	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3029048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559552	Med1	mediator complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559552	Med1	mediator complex subunit 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351174	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1559552	Med1	mediator complex subunit 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351174	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1559552	Med1	mediator complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1351174	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1559552	Med1	mediator complex subunit 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1617613	D	RGD:13513972|PMID:27548259	20180314	RGD			
1559552	Med1	mediator complex subunit 1	gene	DOID:12930	dilated cardiomyopathy		ISS	RGD:1617613	D	RGD:13592920	20180518	MouseDO			
1559552	Med1	mediator complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559552	Med1	mediator complex subunit 1	gene	DOID:289	endometriosis		ISO	RGD:1351174	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
1559552	Med1	mediator complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559552	Med1	mediator complex subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1559552	Med1	mediator complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559552	Med1	mediator complex subunit 1	gene	DOID:6000	congestive heart failure		ISS	RGD:1617613	D	RGD:13592920	20180518	MouseDO			
1559552	Med1	mediator complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351174	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20007298
1559552	Med1	mediator complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559552	Med1	mediator complex subunit 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1351174	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16109766
1559552	Med1	mediator complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559560	Pusl1	pseudouridine synthase like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559560	Pusl1	pseudouridine synthase like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559560	Pusl1	pseudouridine synthase like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559560	Pusl1	pseudouridine synthase like 1	gene	DOID:1115	sarcoma		ISO	RGD:1353807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559560	Pusl1	pseudouridine synthase like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353807	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559560	Pusl1	pseudouridine synthase like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559560	Pusl1	pseudouridine synthase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559560	Pusl1	pseudouridine synthase like 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1353807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1559560	Pusl1	pseudouridine synthase like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559560	Pusl1	pseudouridine synthase like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1559560	Pusl1	pseudouridine synthase like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559560	Pusl1	pseudouridine synthase like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559565	Efhd1	EF-hand domain family, member D1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559565	Efhd1	EF-hand domain family, member D1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1350827	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1559565	Efhd1	EF-hand domain family, member D1	gene	DOID:1115	sarcoma		ISO	RGD:1350827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559565	Efhd1	EF-hand domain family, member D1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559565	Efhd1	EF-hand domain family, member D1	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1350827	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1559565	Efhd1	EF-hand domain family, member D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559576	Slc35f1	solute carrier family 35, member F1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559576	Slc35f1	solute carrier family 35, member F1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559576	Slc35f1	solute carrier family 35, member F1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1353208	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1559576	Slc35f1	solute carrier family 35, member F1	gene	DOID:10534	stomach cancer		ISO	RGD:1353208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559576	Slc35f1	solute carrier family 35, member F1	gene	DOID:1059	intellectual disability		ISO	RGD:1353208	D	RGD:8554872	20150310	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:24824130
1559576	Slc35f1	solute carrier family 35, member F1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1353208	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:29127259
1559576	Slc35f1	solute carrier family 35, member F1	gene	DOID:1324	lung cancer		ISO	RGD:1353208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559576	Slc35f1	solute carrier family 35, member F1	gene	DOID:3070	high grade glioma		ISO	RGD:1353208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1559576	Slc35f1	solute carrier family 35, member F1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1559576	Slc35f1	solute carrier family 35, member F1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353208	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559576	Slc35f1	solute carrier family 35, member F1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559576	Slc35f1	solute carrier family 35, member F1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33821533
1559576	Slc35f1	solute carrier family 35, member F1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559589	Tent5d	terminal nucleotidyltransferase 5D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559589	Tent5d	terminal nucleotidyltransferase 5D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559594	Prdm6	PR/SET domain 6	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1350258	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1559594	Prdm6	PR/SET domain 6	gene	DOID:1682	congenital heart disease		ISO	RGD:1350258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
1559594	Prdm6	PR/SET domain 6	gene	DOID:630	genetic disease		ISO	RGD:1350258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27181681
1559594	Prdm6	PR/SET domain 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1559594	Prdm6	PR/SET domain 6	gene	DOID:9007470	Patent Ductus Arteriosus 3		ISO	RGD:1350258	D	RGD:7240710	20190315	OMIM			
1559594	Prdm6	PR/SET domain 6	gene	DOID:9007470	Patent Ductus Arteriosus 3		ISO	RGD:1350258	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PATENT DUCTUS ARTERIOSUS 3 | ClinVar Annotator: match by term: PRDM6-related condition | ClinVar Annotator: match by term: Patent ductus arteriosus 3	PMID:25741868|PMID:35108221|PMID:36749647
1559603	Mknk1	MAPK interacting serine/threonine kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559603	Mknk1	MAPK interacting serine/threonine kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559603	Mknk1	MAPK interacting serine/threonine kinase 1	gene	DOID:303	substance-related disorder		ISO	RGD:1605115	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1559603	Mknk1	MAPK interacting serine/threonine kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1605115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559603	Mknk1	MAPK interacting serine/threonine kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559603	Mknk1	MAPK interacting serine/threonine kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559603	Mknk1	MAPK interacting serine/threonine kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559603	Mknk1	MAPK interacting serine/threonine kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605115	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559605	Amer2	APC membrane recruitment protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559609	Wwtr1	WW domain containing transcription regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559609	Wwtr1	WW domain containing transcription regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1349820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559609	Wwtr1	WW domain containing transcription regulator 1	gene	DOID:12712	nephronophthisis		ISS	RGD:1617441	D	RGD:13592920	20180518	MouseDO			
1559609	Wwtr1	WW domain containing transcription regulator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559609	Wwtr1	WW domain containing transcription regulator 1	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1349820	D	RGD:11554173	20191210	CTD		CTD Direct Evidence: marker/mechanism	PMID:31494105
1559609	Wwtr1	WW domain containing transcription regulator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559609	Wwtr1	WW domain containing transcription regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559609	Wwtr1	WW domain containing transcription regulator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1559609	Wwtr1	WW domain containing transcription regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559609	Wwtr1	WW domain containing transcription regulator 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559609	Wwtr1	WW domain containing transcription regulator 1	gene	DOID:767	muscular atrophy		ISO	RGD:1349820	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:24550007
1559609	Wwtr1	WW domain containing transcription regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559609	Wwtr1	WW domain containing transcription regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559609	Wwtr1	WW domain containing transcription regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:0060058	lymphoma		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:1324	lung cancer		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1346888	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1346888	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559616	Sidt1	SID1 transmembrane family, member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1346888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1559617	Naa38	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	gene	DOID:630	genetic disease		ISO	RGD:126911632|RGD:155970485|RGD:156098303|RGD:156169756|RGD:156198061|RGD:401747534|RGD:405660809|RGD:405660815|RGD:405660886	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	
1559623	Tyw3	tRNA-yW synthesizing protein 3 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559623	Tyw3	tRNA-yW synthesizing protein 3 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1603913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559623	Tyw3	tRNA-yW synthesizing protein 3 homolog	gene	DOID:2394	ovarian cancer		ISO	RGD:1603913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1559623	Tyw3	tRNA-yW synthesizing protein 3 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559637	Lrit3	leucine-rich repeat, Ig-like and transmembrane domains 3	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1605227	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1559637	Lrit3	leucine-rich repeat, Ig-like and transmembrane domains 3	gene	DOID:0050817	Stargardt disease		ISO	RGD:1605227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stargardt disease	PMID:27428514
1559637	Lrit3	leucine-rich repeat, Ig-like and transmembrane domains 3	gene	DOID:0110864	congenital stationary night blindness 1F		ISO	RGD:1605227	D	RGD:7240710	20140911	OMIM			
1559637	Lrit3	leucine-rich repeat, Ig-like and transmembrane domains 3	gene	DOID:0110864	congenital stationary night blindness 1F		ISO	RGD:1605227	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness 1F | ClinVar Annotator: match by term: Congenital stationary night blindness, type 1F | ClinVar Annotator: match by term: LRIT3-related condition | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F	PMID:23246293|PMID:24598786|PMID:25741868|PMID:28492532|PMID:32483926
1559637	Lrit3	leucine-rich repeat, Ig-like and transmembrane domains 3	gene	DOID:0110864	congenital stationary night blindness 1F		ISS	RGD:1620565	D	RGD:13592920	20230718	MouseDO		OMIM:615058	
1559637	Lrit3	leucine-rich repeat, Ig-like and transmembrane domains 3	gene	DOID:5723	optic atrophy		ISO	RGD:1605227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1559637	Lrit3	leucine-rich repeat, Ig-like and transmembrane domains 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559637	Lrit3	leucine-rich repeat, Ig-like and transmembrane domains 3	gene	DOID:630	genetic disease		ISO	RGD:1605227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1559637	Lrit3	leucine-rich repeat, Ig-like and transmembrane domains 3	gene	DOID:8501	fundus dystrophy		ISO	RGD:1605227	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1559641	Defb30	defensin beta 30	gene	DOID:0060058	lymphoma		ISO	RGD:2307454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1559641	Defb30	defensin beta 30	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:2307454	D	RGD:8554872	20220104	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm	PMID:32748548
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:1059	intellectual disability		ISO	RGD:1351703	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:10907	microcephaly		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:1115	sarcoma		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:12849	autistic disorder		ISO	RGD:14351525	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:30208311
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:1826	epilepsy		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:1909	melanoma		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1351703	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1351703	D	RGD:1599384|PMID:12917640	20070201	RGD			
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1351703	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma	PMID:25741868|PMID:28492532|PMID:30595499|PMID:32409512|PMID:35346031|PMID:35503477
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:540	strabismus		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:630	genetic disease		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:30595499|PMID:31833172
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:9001418	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES		ISO	RGD:1351703	D	RGD:7240710	20220209	OMIM			
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:9001418	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | ClinVar Annotator: match by term: TFE3-related disorder	PMID:25741868|PMID:28492532|PMID:29758562|PMID:30595499|PMID:31833172|PMID:32409512
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:30595499|PMID:31833172|PMID:32409512
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:9006749	Renal Cell Carcinoma, Xp11-Associated		ISO	RGD:1351703	D	RGD:7240710	20140911	OMIM			
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:9006749	Renal Cell Carcinoma, Xp11-Associated		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma, Xp11-associated	
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559642	Tfe3	transcription factor binding to IGHM enhancer 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559643	Mb21d2	Mab-21 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559643	Mb21d2	Mab-21 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1601820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559643	Mb21d2	Mab-21 domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559646	Klhl13	kelch-like family member 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559646	Klhl13	kelch-like family member 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559646	Klhl13	kelch-like family member 13	gene	DOID:1115	sarcoma		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559646	Klhl13	kelch-like family member 13	gene	DOID:1324	lung cancer		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559646	Klhl13	kelch-like family member 13	gene	DOID:1909	melanoma		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559646	Klhl13	kelch-like family member 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559646	Klhl13	kelch-like family member 13	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1559646	Klhl13	kelch-like family member 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559646	Klhl13	kelch-like family member 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559646	Klhl13	kelch-like family member 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559646	Klhl13	kelch-like family member 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1342476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1559652	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559652	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559652	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:1115	sarcoma		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559652	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:1324	lung cancer		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559652	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:1909	melanoma		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559652	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559652	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:3275	thymoma		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559652	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343230	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559652	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559652	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559652	Nsun4	NOP2/Sun RNA methyltransferase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:0060249	scoliosis		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:0060320	inguinal hernia		ISO	RGD:1604273	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1604273	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:10348	blepharophimosis		ISO	RGD:1604273	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:1059	intellectual disability		ISO	RGD:1604273	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:10907	microcephaly		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:10908	hydrocephalus		ISO	RGD:1604273	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:11782	astigmatism		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:11830	myopia		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:32376980
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:1324	lung cancer		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:1788	peritoneal mesothelioma		ISO	RGD:1604273	D	RGD:151356964|PMID:30171198	20220221	RGD		DNA:missense mutations:multiple	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1604273	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:26928227
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:1909	melanoma		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:3275	thymoma		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:3565	meningioma		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:23348505|PMID:26826201|PMID:27624470|PMID:27993330|PMID:30171198|PMID:30294322|PMID:31177425|PMID:31963394|PMID:35101336
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1604273	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:540	strabismus		ISO	RGD:1604273	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:630	genetic disease		ISO	RGD:1604273	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604273	D	RGD:151356961|PMID:31730901	20220221	RGD		mRNA:increased expression:liver	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1604273	D	RGD:151356961|PMID:31730901	20220221	RGD			
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:746	adenomatoid tumor		ISO	RGD:1604273	D	RGD:151356962|PMID:29148537	20220221	RGD		DNA:missense mutations:multiple	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:8927	learning disability		ISO	RGD:1604273	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:151356968|PMID:30100091	20220221	RGD		mRNA, protein:increased expression:spinal cord	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:32376980
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:32376980
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9002555	Cardiac, Facial, and Digital Anomalies with Developmental Delay		ISO	RGD:1604273	D	RGD:7240710	20190315	OMIM			
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9002555	Cardiac, Facial, and Digital Anomalies with Developmental Delay		ISO	RGD:1604273	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Cardiac, facial, and digital anomalies with developmental delay | ClinVar Annotator: match by term: TRAF7-Related Disorder | ClinVar Annotator: match by term: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome	PMID:25741868|PMID:25961944|PMID:29961569|PMID:32376980|PMID:32399599
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9002555	Cardiac, Facial, and Digital Anomalies with Developmental Delay		ISO	RGD:1604273	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Cardiac, facial, and digital anomalies with developmental delay | ClinVar Annotator: match by term: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | ClinVar Annotator: match by term: TRAF7-related condition | ClinVar Annotator: match by term: TRAF7-related disorder | ClinVar Annotator: match by term: TRAF7-related syndrome	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9003133	Hypertelorism		ISO	RGD:1604273	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9003591	Telecanthus		ISO	RGD:1604273	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9004538	Hearing Loss		ISO	RGD:1604273	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:32376980
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9004992	Apnea		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:25741868
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9005077	Joint Instability		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:32376980
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:32376980
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9005616	Micrognathism		ISO	RGD:1604273	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1604273	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604273	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1604273	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067|PMID:34513876|PMID:38466850|PMID:38612512
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559653	Traf7	TNF receptor associated factor 7	gene	DOID:9834	hyperopia		ISO	RGD:1604273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1559655	Il22ra1	interleukin 22 receptor subunit alpha 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559655	Il22ra1	interleukin 22 receptor subunit alpha 1	gene	DOID:0060058	lymphoma		ISO	RGD:1352751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1559655	Il22ra1	interleukin 22 receptor subunit alpha 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559655	Il22ra1	interleukin 22 receptor subunit alpha 1	gene	DOID:1324	lung cancer		ISO	RGD:1352751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559655	Il22ra1	interleukin 22 receptor subunit alpha 1	gene	DOID:9005941	Rhinosinusitis	susceptibility	ISO	RGD:1352751	D	RGD:5147411|PMID:19393422	20110803	RGD		DNA:SNPs:5' utr, intron: (rs4292900, rs16829225, rs4648936) (human)	
1559655	Il22ra1	interleukin 22 receptor subunit alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559657	Ccdc134	coiled-coil domain containing 134	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1605621	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1559657	Ccdc134	coiled-coil domain containing 134	gene	DOID:1324	lung cancer		ISO	RGD:1605621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559657	Ccdc134	coiled-coil domain containing 134	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1559657	Ccdc134	coiled-coil domain containing 134	gene	DOID:4362	cervical cancer		ISO	RGD:1605621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559657	Ccdc134	coiled-coil domain containing 134	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559657	Ccdc134	coiled-coil domain containing 134	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559657	Ccdc134	coiled-coil domain containing 134	gene	DOID:9001928	osteogenesis imperfecta type 22		ISO	RGD:1605621	D	RGD:7240710	20220406	OMIM			
1559657	Ccdc134	coiled-coil domain containing 134	gene	DOID:9001928	osteogenesis imperfecta type 22		ISO	RGD:1605621	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CCDC134-related condition | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XXII	PMID:25741868
1559657	Ccdc134	coiled-coil domain containing 134	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559657	Ccdc134	coiled-coil domain containing 134	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1605621	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1559657	Ccdc134	coiled-coil domain containing 134	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559660	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559660	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559660	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559660	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559660	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603985	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559660	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559660	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559660	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559660	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559660	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559660	Mindy1	MINDY lysine 48 deubiquitinase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1603985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1559663	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559663	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1348221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1559663	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1348221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559663	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1348221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559663	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559663	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348221	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559663	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559663	St6gal2	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1348221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1559673	Gdpd5	glycerophosphodiester phosphodiesterase domain containing 5	gene	DOID:3275	thymoma		ISO	RGD:1604590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559673	Gdpd5	glycerophosphodiester phosphodiesterase domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1604590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559673	Gdpd5	glycerophosphodiester phosphodiesterase domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559673	Gdpd5	glycerophosphodiester phosphodiesterase domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559673	Gdpd5	glycerophosphodiester phosphodiesterase domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559673	Gdpd5	glycerophosphodiester phosphodiesterase domain containing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559678	Nrg3	neuregulin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559678	Nrg3	neuregulin 3	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1317640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
1559678	Nrg3	neuregulin 3	gene	DOID:1115	sarcoma		ISO	RGD:1317640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559678	Nrg3	neuregulin 3	gene	DOID:5419	schizophrenia		ISO	RGD:1317640	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20713722
1559678	Nrg3	neuregulin 3	gene	DOID:5419	schizophrenia		ISS	RGD:1317641	D	RGD:13592920	20230718	MouseDO		OMIM:181500	
1559678	Nrg3	neuregulin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559678	Nrg3	neuregulin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559678	Nrg3	neuregulin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559683	Cimip2c	ciliary microtubule inner protein 2C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2298820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559683	Cimip2c	ciliary microtubule inner protein 2C	gene	DOID:10534	stomach cancer		ISO	RGD:2298820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559683	Cimip2c	ciliary microtubule inner protein 2C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2298820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559683	Cimip2c	ciliary microtubule inner protein 2C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2298820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559683	Cimip2c	ciliary microtubule inner protein 2C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2298820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559684	Zfp458	zinc finger protein 458	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559684	Zfp458	zinc finger protein 458	gene	DOID:10534	stomach cancer		ISO	RGD:1349254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559684	Zfp458	zinc finger protein 458	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559684	Zfp458	zinc finger protein 458	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559684	Zfp458	zinc finger protein 458	gene	DOID:3275	thymoma		ISO	RGD:1349254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559684	Zfp458	zinc finger protein 458	gene	DOID:5041	esophageal cancer		ISO	RGD:1349254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559684	Zfp458	zinc finger protein 458	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559684	Zfp458	zinc finger protein 458	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559684	Zfp458	zinc finger protein 458	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559690	Ddias	DNA damage-induced apoptosis suppressor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602966	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559690	Ddias	DNA damage-induced apoptosis suppressor	gene	DOID:1115	sarcoma		ISO	RGD:1602966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559690	Ddias	DNA damage-induced apoptosis suppressor	gene	DOID:1909	melanoma		ISO	RGD:1602966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559690	Ddias	DNA damage-induced apoptosis suppressor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1559690	Ddias	DNA damage-induced apoptosis suppressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559690	Ddias	DNA damage-induced apoptosis suppressor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559693	Elfn2	extracellular leucine-rich repeat and fibronectin type III domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559693	Elfn2	extracellular leucine-rich repeat and fibronectin type III domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559693	Elfn2	extracellular leucine-rich repeat and fibronectin type III domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559694	Dipk1c	divergent protein kinase domain 1C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559694	Dipk1c	divergent protein kinase domain 1C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559695	Mroh5	maestro heat-like repeat family member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559695	Mroh5	maestro heat-like repeat family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559695	Mroh5	maestro heat-like repeat family member 5	gene	DOID:0060058	lymphoma		ISO	RGD:1602032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1559695	Mroh5	maestro heat-like repeat family member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1602032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559695	Mroh5	maestro heat-like repeat family member 5	gene	DOID:1324	lung cancer		ISO	RGD:1602032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559695	Mroh5	maestro heat-like repeat family member 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1602032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1559695	Mroh5	maestro heat-like repeat family member 5	gene	DOID:3275	thymoma		ISO	RGD:1602032	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559695	Mroh5	maestro heat-like repeat family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559695	Mroh5	maestro heat-like repeat family member 5	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1559695	Mroh5	maestro heat-like repeat family member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559695	Mroh5	maestro heat-like repeat family member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559697	Foxp2	forkhead box P2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559697	Foxp2	forkhead box P2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559697	Foxp2	forkhead box P2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351861	D	RGD:11535982|PMID:24356376	20160927	RGD		DNA:SNPs, haplotypes: :multiple	
1559697	Foxp2	forkhead box P2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351861	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1559697	Foxp2	forkhead box P2	gene	DOID:0060135	apraxia		ISO	RGD:1351861	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17033973|PMID:27120335
1559697	Foxp2	forkhead box P2	gene	DOID:0060135	apraxia		ISO	RGD:1351861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL VERBAL DYSPRAXIA	PMID:11586359|PMID:25741868
1559697	Foxp2	forkhead box P2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1351861	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1559697	Foxp2	forkhead box P2	gene	DOID:0111275	speech-language disorder-1		ISO	RGD:1351861	D	RGD:11070093|PMID:16984964	20160927	RGD		DNa:missense mutation, nonsense mutation: :p.R553H, p.R328X (human)	
1559697	Foxp2	forkhead box P2	gene	DOID:0111275	speech-language disorder-1		ISO	RGD:1351861	D	RGD:11072822|PMID:11586359	20160928	RGD		DNA:missense mutation:exon:p.R553H (human)	
1559697	Foxp2	forkhead box P2	gene	DOID:0111275	speech-language disorder-1		ISO	RGD:1351861	D	RGD:11526702|PMID:17033973	20160927	RGD		DNA:deletions: :multiple	
1559697	Foxp2	forkhead box P2	gene	DOID:0111275	speech-language disorder-1		ISO	RGD:1351861	D	RGD:11526862|PMID:15877281	20160927	RGD		DNA:mutations:5' utr, exon, intron:multiple	
1559697	Foxp2	forkhead box P2	gene	DOID:0111275	speech-language disorder-1		ISO	RGD:1351861	D	RGD:7240710	20130221	OMIM			
1559697	Foxp2	forkhead box P2	gene	DOID:0111275	speech-language disorder-1		ISO	RGD:1351861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related condition | ClinVar Annotator: match by term: SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA | ClinVar Annotator: match by term: Speech-language disorder-1	PMID:15877281|PMID:16470794|PMID:17033973|PMID:17330859|PMID:20858596|PMID:22105961|PMID:22106036|PMID:22144704|PMID:22766611|PMID:23918746|PMID:25741868|PMID:27572252|PMID:28492532|PMID:30377382|PMID:34015165|PMID:38418803
1559697	Foxp2	forkhead box P2	gene	DOID:0111275	speech-language disorder-1	no_association	ISO	RGD:1351861	D	RGD:11536000|PMID:19352412	20160928	RGD		DNA:missense mutation: :p.P215A (human)	
1559697	Foxp2	forkhead box P2	gene	DOID:10534	stomach cancer		ISO	RGD:1351861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559697	Foxp2	forkhead box P2	gene	DOID:1059	intellectual disability		ISO	RGD:1351861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1559697	Foxp2	forkhead box P2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1351861	D	RGD:11535980|PMID:22504457	20160927	RGD		DNA:SNPs, haplotype: :rs1229761, rs12533005 (human)	
1559697	Foxp2	forkhead box P2	gene	DOID:1094	attention deficit hyperactivity disorder	no_association	ISO	RGD:1351861	D	RGD:11535980|PMID:22504457	20160927	RGD		DNA:SNPs: :multiple	
1559697	Foxp2	forkhead box P2	gene	DOID:12849	autistic disorder		ISO	RGD:1351861	D	RGD:11535986|PMID:15108192	20160927	RGD		DNA:SNPs, haplotype	
1559697	Foxp2	forkhead box P2	gene	DOID:12849	autistic disorder		ISO	RGD:1351861	D	RGD:11535991|PMID:15737702	20160928	RGD		DNA:SNP:intron	
1559697	Foxp2	forkhead box P2	gene	DOID:12849	autistic disorder		ISO	RGD:1351861	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108192|PMID:17033973
1559697	Foxp2	forkhead box P2	gene	DOID:12849	autistic disorder	no_association	ISO	RGD:1351861	D	RGD:11535984|PMID:15998549	20160927	RGD			
1559697	Foxp2	forkhead box P2	gene	DOID:12849	autistic disorder	no_association	ISO	RGD:1351861	D	RGD:11535985|PMID:12655497	20160927	RGD		DNA:polymorphisms: :multiple	
1559697	Foxp2	forkhead box P2	gene	DOID:12849	autistic disorder	no_association	ISO	RGD:1351861	D	RGD:11536001|PMID:12116195	20160928	RGD		DNA:repeat, deletion	
1559697	Foxp2	forkhead box P2	gene	DOID:14681	Silver-Russell syndrome		ISO	RGD:1351861	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17033973
1559697	Foxp2	forkhead box P2	gene	DOID:1470	major depressive disorder		ISO	RGD:1351861	D	RGD:11535994|PMID:22404659	20160928	RGD		DNA:SNP: :rs10447760 (human)	
1559697	Foxp2	forkhead box P2	gene	DOID:1470	major depressive disorder	no_association	ISO	RGD:1351861	D	RGD:11535994|PMID:22404659	20160928	RGD		DNA:SNPs: :multiple	
1559697	Foxp2	forkhead box P2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1351861	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
1559697	Foxp2	forkhead box P2	gene	DOID:1909	melanoma		ISO	RGD:1351861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559697	Foxp2	forkhead box P2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1351861	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
1559697	Foxp2	forkhead box P2	gene	DOID:4186	articulation disorder		ISO	RGD:1351861	D	RGD:11535989|PMID:20923434	20160927	RGD		DNA:SNPs, haplotype:5' utr:rs1852469, rs2396722 (human)	
1559697	Foxp2	forkhead box P2	gene	DOID:4186	articulation disorder	no_association	ISO	RGD:1351861	D	RGD:11535989|PMID:20923434	20160927	RGD		DNA:SNPs::rs923875, rs17137124, rs1456031 (human)	
1559697	Foxp2	forkhead box P2	gene	DOID:4362	cervical cancer		ISO	RGD:1351861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559697	Foxp2	forkhead box P2	gene	DOID:4428	dyslexia		ISO	RGD:1351861	D	RGD:11535997|PMID:21897444	20160928	RGD		DNA:SNP: :rs12533005 (human)	
1559697	Foxp2	forkhead box P2	gene	DOID:4428	dyslexia	no_association	ISO	RGD:1351861	D	RGD:11535997|PMID:21897444	20160928	RGD		DNA:SNPs: :multiple	
1559697	Foxp2	forkhead box P2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351861	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559697	Foxp2	forkhead box P2	gene	DOID:5419	schizophrenia		ISO	RGD:1351861	D	RGD:11535988|PMID:16538183	20160927	RGD		DNA:SNPs, haplotype: :multiple	
1559697	Foxp2	forkhead box P2	gene	DOID:5419	schizophrenia		ISO	RGD:1351861	D	RGD:11535994|PMID:22404659	20160928	RGD		DNA:SNP: :rs10447760 (human)	
1559697	Foxp2	forkhead box P2	gene	DOID:5419	schizophrenia	no_association	ISO	RGD:1351861	D	RGD:11535994|PMID:22404659	20160928	RGD		DNA:SNPs: :multiple	
1559697	Foxp2	forkhead box P2	gene	DOID:630	genetic disease		ISO	RGD:1351861	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15877281|PMID:16984964|PMID:22434823|PMID:25232744|PMID:25741868|PMID:27336128|PMID:27572252|PMID:27933109|PMID:28492532
1559697	Foxp2	forkhead box P2	gene	DOID:630	genetic disease		ISO	RGD:1351861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1559697	Foxp2	forkhead box P2	gene	DOID:9001488	Human Influenza		ISO	RGD:1615752	D	RGD:11536002|PMID:18248790	20160928	RGD			
1559697	Foxp2	forkhead box P2	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1351861	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27120335
1559697	Foxp2	forkhead box P2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559697	Foxp2	forkhead box P2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:27572252
1559697	Foxp2	forkhead box P2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1351861	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17033973
1559697	Foxp2	forkhead box P2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559697	Foxp2	forkhead box P2	gene	DOID:93	language disorder		ISO	RGD:1351861	D	RGD:11535993|PMID:20649982	20160928	RGD		associated with Schizophrenia;DNA:SNP: :rs2253478 (human)	
1559698	Sik2	salt-inducible kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559698	Sik2	salt-inducible kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346987	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34491613
1559698	Sik2	salt-inducible kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559698	Sik2	salt-inducible kinase 2	gene	DOID:9000918	Disease Progression		ISO	RGD:1346987	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34491613
1559698	Sik2	salt-inducible kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559709	Fbxo47	F-box protein 47	gene	DOID:1909	melanoma		ISO	RGD:1606618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559709	Fbxo47	F-box protein 47	gene	DOID:3070	high grade glioma		ISO	RGD:1606618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1559709	Fbxo47	F-box protein 47	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559711	Tbc1d25	TBC1 domain family, member 25	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559711	Tbc1d25	TBC1 domain family, member 25	gene	DOID:1115	sarcoma		ISO	RGD:1351229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559711	Tbc1d25	TBC1 domain family, member 25	gene	DOID:14228	oligospermia		ISO	RGD:1351229	D	RGD:8554872	20200407	ClinVar		ClinVar Annotator: match by term: Oligospermia	
1559711	Tbc1d25	TBC1 domain family, member 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559711	Tbc1d25	TBC1 domain family, member 25	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1559711	Tbc1d25	TBC1 domain family, member 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559711	Tbc1d25	TBC1 domain family, member 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559712	Pdcl2	phosducin-like 2	gene	DOID:9001513	Asthenozoospermia		ISO	RGD:1344096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthenoteratozoospermia	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:0060478	Zika fever		ISO	RGD:1558600	D	RGD:32733625|PMID:30241539	20200701	RGD			
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:1115	sarcoma		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:1324	lung cancer		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:1826	epilepsy		ISO	RGD:1605125	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19558813
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:1909	melanoma		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1605125	D	RGD:11554173	20210112	CTD		CTD Direct Evidence: marker/mechanism	PMID:30661753
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605125	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605125	D	RGD:14694974|PMID:20165882	20200701	RGD		DNA:hypomethylation: CpG islands:	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:8557	oropharynx cancer	disease_progression	ISO	RGD:1605125	D	RGD:32716423|PMID:31187548	20200630	RGD			
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9000238	Acute-On-Chronic Liver Failure		ISO	RGD:1605125	D	RGD:32716425|PMID:26234401	20200630	RGD		mRNA, protein:decreased expression:liver	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	IEP		D	RGD:35316073|PMID:30226536	20200708	RGD			
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	IMP		D	RGD:34901873|PMID:29169414	20200707	RGD			
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605125	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30538632
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9002488	Peritoneal Fibrosis	treatment	IMP		D	RGD:32733624|PMID:31836774	20200701	RGD			
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1605125	D	RGD:11554173	20210112	CTD		CTD Direct Evidence: marker/mechanism	PMID:30661753
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9004283	Transplant Rejection	treatment	IEP		D	RGD:35316072|PMID:31828147	20200708	RGD			
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9004610	Acute Lung Injury	treatment	IEP		D	RGD:34901874|PMID:30465396	20200707	RGD		associated with  Crush Injuries	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1605125	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30538632
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9008022	Temporomandibular Joint Osteoarthritis		IEP		D	RGD:34888237|PMID:31007149	20200706	RGD			
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559716	Ern1	endoplasmic reticulum to nucleus signaling 1	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:1558600	D	RGD:401842386|PMID:27813192	20231018	RGD			
1559717	Sbspon	somatomedin B and thrombospondin, type 1 domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559717	Sbspon	somatomedin B and thrombospondin, type 1 domain containing	gene	DOID:1909	melanoma		ISO	RGD:1602645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559717	Sbspon	somatomedin B and thrombospondin, type 1 domain containing	gene	DOID:3275	thymoma		ISO	RGD:1602645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559717	Sbspon	somatomedin B and thrombospondin, type 1 domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1602645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559717	Sbspon	somatomedin B and thrombospondin, type 1 domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559717	Sbspon	somatomedin B and thrombospondin, type 1 domain containing	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1602645	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1559717	Sbspon	somatomedin B and thrombospondin, type 1 domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559720	Cisd3	CDGSH iron sulfur domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1626692	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559720	Cisd3	CDGSH iron sulfur domain 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1626692	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559720	Cisd3	CDGSH iron sulfur domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1626692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559721	Ifi27l2a	interferon, alpha-inducible protein 27 like 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559721	Ifi27l2a	interferon, alpha-inducible protein 27 like 2A	gene	DOID:0080600	COVID-19		ISO	RGD:1344421	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1559721	Ifi27l2a	interferon, alpha-inducible protein 27 like 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1344421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559721	Ifi27l2a	interferon, alpha-inducible protein 27 like 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559721	Ifi27l2a	interferon, alpha-inducible protein 27 like 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1344421	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559721	Ifi27l2a	interferon, alpha-inducible protein 27 like 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559721	Ifi27l2a	interferon, alpha-inducible protein 27 like 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559723	Sspn	sarcospan	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1347504	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1559727	Lhfpl3	LHFPL tetraspan subfamily member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1559727	Lhfpl3	LHFPL tetraspan subfamily member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349891	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1559731	Dipk2b	divergent protein kinase domain 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559731	Dipk2b	divergent protein kinase domain 2B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343794	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21264219|PMID:21283809
1559731	Dipk2b	divergent protein kinase domain 2B	gene	DOID:1115	sarcoma		ISO	RGD:1343794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559731	Dipk2b	divergent protein kinase domain 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559731	Dipk2b	divergent protein kinase domain 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343794	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1559731	Dipk2b	divergent protein kinase domain 2B	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1343794	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21264219
1559731	Dipk2b	divergent protein kinase domain 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559733	Tdrp	testis development related protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559740	Cnih4	cornichon family member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559740	Cnih4	cornichon family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559740	Cnih4	cornichon family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559740	Cnih4	cornichon family member 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606011	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1559740	Cnih4	cornichon family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559740	Cnih4	cornichon family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559740	Cnih4	cornichon family member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559742	Jakmip2	janus kinase and microtubule interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1605109	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22842228
1559742	Jakmip2	janus kinase and microtubule interacting protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1605109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1559742	Jakmip2	janus kinase and microtubule interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559742	Jakmip2	janus kinase and microtubule interacting protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559742	Jakmip2	janus kinase and microtubule interacting protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:14698291	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
1559742	Jakmip2	janus kinase and microtubule interacting protein 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605109	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1559747	RGD1559747	similar to Zinc finger and SCAN domain containing protein 2 (Zinc finger protein 29)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:38615265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559753	Lrrc37a	leucine rich repeat containing 37A	gene	DOID:10283	prostate cancer		ISO	RGD:1605801	D	RGD:8554872	20190122	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1559753	Lrrc37a	leucine rich repeat containing 37A	gene	DOID:10283	prostate cancer		ISO	RGD:1605801	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1559753	Lrrc37a	leucine rich repeat containing 37A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559753	Lrrc37a	leucine rich repeat containing 37A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559753	Lrrc37a	leucine rich repeat containing 37A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559753	Lrrc37a	leucine rich repeat containing 37A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559753	Lrrc37a	leucine rich repeat containing 37A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559755	Rpf1	ribosome production factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559755	Rpf1	ribosome production factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559755	Rpf1	ribosome production factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559755	Rpf1	ribosome production factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559755	Rpf1	ribosome production factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602209	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559755	Rpf1	ribosome production factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1559755	Rpf1	ribosome production factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559755	Rpf1	ribosome production factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559755	Rpf1	ribosome production factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1559755	Rpf1	ribosome production factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559756	Tll2	tolloid-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559756	Tll2	tolloid-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559756	Tll2	tolloid-like 2	gene	DOID:0111428	essential tremor 1		ISO	RGD:1312462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868
1559756	Tll2	tolloid-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1312462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559756	Tll2	tolloid-like 2	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1312462	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy	PMID:25741868
1559756	Tll2	tolloid-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1312462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559756	Tll2	tolloid-like 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1559756	Tll2	tolloid-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559756	Tll2	tolloid-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312462	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559756	Tll2	tolloid-like 2	gene	DOID:767	muscular atrophy		ISO	RGD:1312462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868
1559756	Tll2	tolloid-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559756	Tll2	tolloid-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559756	Tll2	tolloid-like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559759	Rp9	RP9, pre-mRNA splicing factor	gene	DOID:0110387	retinitis pigmentosa 9		ISO	RGD:1342620	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1559759	Rp9	RP9, pre-mRNA splicing factor	gene	DOID:0110387	retinitis pigmentosa 9		ISO	RGD:1342620	D	RGD:7240710	20130425	OMIM			
1559759	Rp9	RP9, pre-mRNA splicing factor	gene	DOID:0110387	retinitis pigmentosa 9		ISO	RGD:1342620	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: RP9-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 9	PMID:12032732|PMID:1479605|PMID:15474994|PMID:15541726|PMID:16671097|PMID:17110909|PMID:23647439|PMID:25741868|PMID:28492532
1559759	Rp9	RP9, pre-mRNA splicing factor	gene	DOID:10534	stomach cancer		ISO	RGD:1342620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559759	Rp9	RP9, pre-mRNA splicing factor	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1342620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:12032732|PMID:1479605|PMID:15474994|PMID:15541726|PMID:16671097|PMID:17110909|PMID:23647439|PMID:25741868|PMID:28492532
1559759	Rp9	RP9, pre-mRNA splicing factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1342620	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559759	Rp9	RP9, pre-mRNA splicing factor	gene	DOID:5723	optic atrophy		ISO	RGD:1342620	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1559759	Rp9	RP9, pre-mRNA splicing factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559759	Rp9	RP9, pre-mRNA splicing factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559759	Rp9	RP9, pre-mRNA splicing factor	gene	DOID:8501	fundus dystrophy		ISO	RGD:1342620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:12032732|PMID:23591405|PMID:25741868|PMID:28492532|PMID:3181667
1559760	Bhlhe23	basic helix-loop-helix family, member e23	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1346145	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1346246	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:26457647
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1346246	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:27992414
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1346246	D	RGD:151232290|PMID:25586593	20220113	RGD		DNA:missense mutation:multiple (human)	
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1346246	D	RGD:151232291|PMID:28942350	20220114	RGD		DNA:missense mutation:multiple (human)	
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1346246	D	RGD:151232292|PMID:22343920	20220114	RGD		DNA:missense mutations:multiple (human)	
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1346246	D	RGD:151347177|PMID:28220884	20220118	RGD			
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:0060058	lymphoma		ISO	RGD:1346246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:9003273	Chromosome 8, Trisomy		ISO	RGD:1346246	D	RGD:151347177|PMID:28220884	20220118	RGD			
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:9003890	X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia		ISO	RGD:1346246	D	RGD:151232291|PMID:28942350	20220114	RGD		DNA:missense mutation:multiple (human)	
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:9009248	Orofaciodigital Syndrome XXI		ISO	RGD:1346246	D	RGD:7240710	20241106	OMIM			
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:9009248	Orofaciodigital Syndrome XXI		ISO	RGD:1346246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XXI	PMID:25679214|PMID:25741868|PMID:31680349|PMID:38158857
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346246	D	RGD:151232299|PMID:25550361	20220117	RGD		DNA:missense mutations:multiple (human)	
1559763	Zrsr2	zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346246	D	RGD:151347178|PMID:32027246	20220118	RGD		associated with aging	
1559774	Zmat5	zinc finger, matrin type 5	gene	DOID:1909	melanoma		ISO	RGD:1607019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559774	Zmat5	zinc finger, matrin type 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559774	Zmat5	zinc finger, matrin type 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559774	Zmat5	zinc finger, matrin type 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559783	Idi2	isopentenyl-diphosphate delta isomerase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559786	Czib	CXXC motif containing zinc binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559786	Czib	CXXC motif containing zinc binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559786	Czib	CXXC motif containing zinc binding protein	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:1603028	D	RGD:8554872	20170111	ClinVar		ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase deficiency type 2	
1559786	Czib	CXXC motif containing zinc binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1603028	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559786	Czib	CXXC motif containing zinc binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559786	Czib	CXXC motif containing zinc binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559786	Czib	CXXC motif containing zinc binding protein	gene	DOID:1909	melanoma		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559786	Czib	CXXC motif containing zinc binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559786	Czib	CXXC motif containing zinc binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559786	Czib	CXXC motif containing zinc binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559786	Czib	CXXC motif containing zinc binding protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1603028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	
1559787	Srf	serum response factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559787	Srf	serum response factor	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1321393	D	RGD:1581473|PMID:12874181	19990101	RGD			
1559787	Srf	serum response factor	gene	DOID:10763	hypertension		IDA		D	RGD:1580749|PMID:16822834	19990101	RGD			
1559787	Srf	serum response factor	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1321394	D	RGD:1580754|PMID:16260633	19990101	RGD			
1559787	Srf	serum response factor	gene	DOID:12930	dilated cardiomyopathy		ISS	RGD:1321394	D	RGD:13592920	20180518	MouseDO			
1559787	Srf	serum response factor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1321393	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:17116645
1559787	Srf	serum response factor	gene	DOID:1909	melanoma		ISO	RGD:1321393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559787	Srf	serum response factor	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:1321394	D	RGD:1580753|PMID:12654640	19990101	RGD			
1559787	Srf	serum response factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1559787	Srf	serum response factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559787	Srf	serum response factor	gene	DOID:4989	pancreatitis		ISO	RGD:1321394	D	RGD:1581427|PMID:16894357	19990101	RGD			
1559787	Srf	serum response factor	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1321393	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1559787	Srf	serum response factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559787	Srf	serum response factor	gene	DOID:6000	congestive heart failure		ISO	RGD:1321393	D	RGD:1581426|PMID:11893590	19990101	RGD		mRNA, protein:splice variant:heart	
1559787	Srf	serum response factor	gene	DOID:684	hepatocellular carcinoma		IDA		D	RGD:1581428|PMID:9570363	19990101	RGD			
1559787	Srf	serum response factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321393	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559787	Srf	serum response factor	gene	DOID:9000469	Viral Myocarditis	severity	ISO	RGD:1321394	D	RGD:401850594|PMID:25998987	20231024	RGD		mRNA:increased expression:heart (mouse)	
1559787	Srf	serum response factor	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:1321394	D	RGD:1581424|PMID:15569937	19990101	RGD			
1559787	Srf	serum response factor	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1321393	D	RGD:1581425|PMID:12909581	19990101	RGD			
1559791	Mtx1	Metaxin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559791	Mtx1	Metaxin 1	gene	DOID:1115	sarcoma		ISO	RGD:1351611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559791	Mtx1	Metaxin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559791	Mtx1	Metaxin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559791	Mtx1	Metaxin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559791	Mtx1	Metaxin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1606393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ductal carcinoma in situ	PMID:26845104
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:10283	prostate cancer		ISO	RGD:1606393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GEN1-related condition | ClinVar Annotator: match by term: GEN1-related prostate cancer	PMID:25741868|PMID:28492532|PMID:38654324
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:1115	sarcoma		ISO	RGD:1606393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:2394	ovarian cancer		ISO	RGD:1606393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: ovarian cancer	PMID:17576681|PMID:26845104|PMID:28492532|PMID:9536098
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:3275	thymoma		ISO	RGD:1606393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:4362	cervical cancer		ISO	RGD:1606393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606393	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:26845104|PMID:28492532|PMID:9536098
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25741868|PMID:28492532
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606393	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms	PMID:25741868|PMID:28492532
1559792	Gen1	GEN1 structure-specific endonuclease	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559797	Eva1a	eva-1 homolog A, regulator of programmed cell death	gene	DOID:3275	thymoma		ISO	RGD:1604577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559797	Eva1a	eva-1 homolog A, regulator of programmed cell death	gene	DOID:4362	cervical cancer		ISO	RGD:1604577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559797	Eva1a	eva-1 homolog A, regulator of programmed cell death	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559797	Eva1a	eva-1 homolog A, regulator of programmed cell death	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559803	Mro	maestro	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559803	Mro	maestro	gene	DOID:10534	stomach cancer		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559803	Mro	maestro	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559803	Mro	maestro	gene	DOID:1115	sarcoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559803	Mro	maestro	gene	DOID:3070	high grade glioma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1559803	Mro	maestro	gene	DOID:3275	thymoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559803	Mro	maestro	gene	DOID:4362	cervical cancer		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559803	Mro	maestro	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559803	Mro	maestro	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559803	Mro	maestro	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342837	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1559803	Mro	maestro	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342837	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1559803	Mro	maestro	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559803	Mro	maestro	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559807	Nherf4	NHERF family PDZ scaffold protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559807	Nherf4	NHERF family PDZ scaffold protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:0060058	lymphoma		ISO	RGD:1345815	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:1909	melanoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345815	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:34845814
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345815	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559814	Pes1	pescadillo ribosomal biogenesis factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1345815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1559817	Ppp4r3c	protein phosphatase 4 regulatory subunit 3C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602982	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1559818	Tp53i13	tumor protein p53 inducible protein 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559818	Tp53i13	tumor protein p53 inducible protein 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559818	Tp53i13	tumor protein p53 inducible protein 13	gene	DOID:10534	stomach cancer		ISO	RGD:1605319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559818	Tp53i13	tumor protein p53 inducible protein 13	gene	DOID:1115	sarcoma		ISO	RGD:1605319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559818	Tp53i13	tumor protein p53 inducible protein 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559818	Tp53i13	tumor protein p53 inducible protein 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559818	Tp53i13	tumor protein p53 inducible protein 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559824	Nacad	NAC alpha domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1625090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559824	Nacad	NAC alpha domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1625090	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559824	Nacad	NAC alpha domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559824	Nacad	NAC alpha domain containing	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1625090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1559826	Nectin4	nectin cell adhesion molecule 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559826	Nectin4	nectin cell adhesion molecule 4	gene	DOID:10534	stomach cancer		ISO	RGD:1347607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559826	Nectin4	nectin cell adhesion molecule 4	gene	DOID:3275	thymoma		ISO	RGD:1347607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559826	Nectin4	nectin cell adhesion molecule 4	gene	DOID:4362	cervical cancer		ISO	RGD:1347607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559826	Nectin4	nectin cell adhesion molecule 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1347607	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559826	Nectin4	nectin cell adhesion molecule 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1559826	Nectin4	nectin cell adhesion molecule 4	gene	DOID:630	genetic disease		ISO	RGD:1347607	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1559826	Nectin4	nectin cell adhesion molecule 4	gene	DOID:9002370	Ectodermal Dysplasia-Syndactyly Syndrome 1		ISO	RGD:1347607	D	RGD:7240710	20130221	OMIM			
1559826	Nectin4	nectin cell adhesion molecule 4	gene	DOID:9002370	Ectodermal Dysplasia-Syndactyly Syndrome 1		ISO	RGD:1347607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 | ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 | ClinVar Annotator: match by term: NECTIN4-related condition	PMID:25741868|PMID:28492532
1559826	Nectin4	nectin cell adhesion molecule 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1347607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1559826	Nectin4	nectin cell adhesion molecule 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559826	Nectin4	nectin cell adhesion molecule 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559828	Gpr55	G protein-coupled receptor 55	gene	DOID:10283	prostate cancer		ISO	RGD:1348516	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1559828	Gpr55	G protein-coupled receptor 55	gene	DOID:10283	prostate cancer		ISO	RGD:1348516	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1559828	Gpr55	G protein-coupled receptor 55	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1348516	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27423937
1559828	Gpr55	G protein-coupled receptor 55	gene	DOID:4195	hyperglycemia		ISO	RGD:1348516	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:30148676
1559828	Gpr55	G protein-coupled receptor 55	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559828	Gpr55	G protein-coupled receptor 55	gene	DOID:9004657	Weight Gain		ISO	RGD:1348516	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:30148676
1559828	Gpr55	G protein-coupled receptor 55	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1348516	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:30148676
1559828	Gpr55	G protein-coupled receptor 55	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559829	Ilrun	inflammation and lipid regulator with UBA-like and NBR1-like domains	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601978	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559829	Ilrun	inflammation and lipid regulator with UBA-like and NBR1-like domains	gene	DOID:10534	stomach cancer		ISO	RGD:1601978	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559829	Ilrun	inflammation and lipid regulator with UBA-like and NBR1-like domains	gene	DOID:1324	lung cancer		ISO	RGD:1601978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559829	Ilrun	inflammation and lipid regulator with UBA-like and NBR1-like domains	gene	DOID:5041	esophageal cancer		ISO	RGD:1601978	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:0050776	non-syndromic X-linked intellectual disability		ISO	RGD:1352466	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability	PMID:25644381|PMID:25735484|PMID:25741868|PMID:29728705|PMID:29742418|PMID:35040952|PMID:35764390|PMID:38038056
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:0080855	Parkinsonism		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:0112042	Tonne-Kalscheuer syndrome		ISO	RGD:1352466	D	RGD:7240710	20220420	OMIM			
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:0112042	Tonne-Kalscheuer syndrome		ISO	RGD:1352466	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RLIM-related syndromic intellectual disability | ClinVar Annotator: match by term: TONNE-KALSCHEUER SYNDROME	PMID:25741868|PMID:29728705|PMID:33953269
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:10283	prostate cancer		ISO	RGD:1352466	D	RGD:8554872	20220419	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:10283	prostate cancer		ISO	RGD:1352466	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:1059	intellectual disability		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:29728705|PMID:33159883|PMID:36307859
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:10863	paralytic squint		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paralytic strabismus	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:10865	abducens nerve palsy		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abducens nerve palsy	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:10892	hypospadias		ISO	RGD:1352466	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:10907	microcephaly		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:11782	astigmatism		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:11830	myopia		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:12849	autistic disorder		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: autism	PMID:25735484|PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:1909	melanoma		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:2234	focal epilepsy		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:29728705|PMID:33159883|PMID:36307859
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:2841	asthma		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:539	ophthalmoplegia		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ophthalmoplegia	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:630	genetic disease		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25644381|PMID:25735484|PMID:25741868|PMID:29728705|PMID:29742418|PMID:33255631|PMID:35040952|PMID:35764390|PMID:38038056
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9000831	Hypokinesia		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9001480	Muscle Rigidity		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cogwheel rigidity	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9001581	Constipation		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1352466	D	RGD:11554173	20220419	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208208
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:29728705|PMID:33159883|PMID:36307859
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9005616	Micrognathism		ISO	RGD:1352466	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Shuffling gait	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:29728705|PMID:33159883|PMID:36307859
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9007661	Dwarfism		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:29728705|PMID:33159883|PMID:36307859
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352466	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diaphragmatic hernia	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9452	steatotic liver disease		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:25741868
1559832	Rlim	ring finger protein, LIM domain interacting	gene	DOID:9970	obesity		ISO	RGD:1352466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1559836	Rmdn2	regulator of microtubule dynamics 2	gene	DOID:1115	sarcoma		ISO	RGD:1605570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559836	Rmdn2	regulator of microtubule dynamics 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605570	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1559841	Tango6	transport and golgi organization 6 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559841	Tango6	transport and golgi organization 6 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559841	Tango6	transport and golgi organization 6 homolog	gene	DOID:1909	melanoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559841	Tango6	transport and golgi organization 6 homolog	gene	DOID:2661	myoepithelioma		ISO	RGD:1606243	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1559841	Tango6	transport and golgi organization 6 homolog	gene	DOID:3275	thymoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559841	Tango6	transport and golgi organization 6 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559841	Tango6	transport and golgi organization 6 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1606243	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559841	Tango6	transport and golgi organization 6 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559841	Tango6	transport and golgi organization 6 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559841	Tango6	transport and golgi organization 6 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559841	Tango6	transport and golgi organization 6 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1559841	Tango6	transport and golgi organization 6 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1559851	Hexim1	HEXIM P-TEFb complex subunit 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606576	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1559851	Hexim1	HEXIM P-TEFb complex subunit 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606576	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1559853	Syce1	synaptonemal complex central element protein 1	gene	DOID:0070172	spermatogenic failure 15		ISO	RGD:1352832	D	RGD:7240710	20190315	OMIM			
1559853	Syce1	synaptonemal complex central element protein 1	gene	DOID:0070172	spermatogenic failure 15		ISO	RGD:1352832	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 15	
1559853	Syce1	synaptonemal complex central element protein 1	gene	DOID:0080869	primary ovarian insufficiency 12		ISO	RGD:1352832	D	RGD:7240710	20190315	OMIM			
1559853	Syce1	synaptonemal complex central element protein 1	gene	DOID:0080869	primary ovarian insufficiency 12		ISO	RGD:1352832	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 12	PMID:25741868
1559853	Syce1	synaptonemal complex central element protein 1	gene	DOID:0080869	primary ovarian insufficiency 12		ISS	RGD:1614295	D	RGD:13592920	20230718	MouseDO		OMIM:616946	
1559853	Syce1	synaptonemal complex central element protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559853	Syce1	synaptonemal complex central element protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1352832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559853	Syce1	synaptonemal complex central element protein 1	gene	DOID:1909	melanoma		ISO	RGD:1352832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559853	Syce1	synaptonemal complex central element protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559853	Syce1	synaptonemal complex central element protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559856	Kctd16	potassium channel tetramerization domain containing 16	gene	DOID:10534	stomach cancer		ISO	RGD:1320838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559856	Kctd16	potassium channel tetramerization domain containing 16	gene	DOID:4362	cervical cancer		ISO	RGD:1320838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559856	Kctd16	potassium channel tetramerization domain containing 16	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1559857	Ahrr	aryl-hydrocarbon receptor repressor	gene	DOID:10763	hypertension	treatment	IEP		D	RGD:401793709|PMID:30127255	20230811	RGD			
1559857	Ahrr	aryl-hydrocarbon receptor repressor	gene	DOID:10763	hypertension	treatment	IEP		D	RGD:401793758|PMID:31489946	20230822	RGD			
1559857	Ahrr	aryl-hydrocarbon receptor repressor	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	IEP		D	RGD:401793709|PMID:30127255	20230811	RGD		associated with hypertension	
1559857	Ahrr	aryl-hydrocarbon receptor repressor	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	IEP		D	RGD:401793718|PMID:32604820	20230815	RGD		associated with maternal adenine induced chronic kidney disease	
1559857	Ahrr	aryl-hydrocarbon receptor repressor	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	IEP		D	RGD:401793758|PMID:31489946	20230822	RGD			
1559861	Vmo1	vitelline membrane outer layer 1 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1605251	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559861	Vmo1	vitelline membrane outer layer 1 homolog	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1605251	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
1559861	Vmo1	vitelline membrane outer layer 1 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559862	Wdr93	WD repeat domain 93	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559862	Wdr93	WD repeat domain 93	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1604328	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic spectrum disorder with isolated skills	
1559862	Wdr93	WD repeat domain 93	gene	DOID:12849	autistic disorder		ISO	RGD:1604328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: autism	
1559862	Wdr93	WD repeat domain 93	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559862	Wdr93	WD repeat domain 93	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559864	Phf24	PHD finger protein 24	gene	DOID:1115	sarcoma		ISO	RGD:1342853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559864	Phf24	PHD finger protein 24	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1342853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1559869	Lyzl1	lysozyme-like 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1350038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1559872	Erich1	glutamate-rich 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559872	Erich1	glutamate-rich 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559872	Erich1	glutamate-rich 1	gene	DOID:0060058	lymphoma		ISO	RGD:1602977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1559872	Erich1	glutamate-rich 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559872	Erich1	glutamate-rich 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559872	Erich1	glutamate-rich 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559872	Erich1	glutamate-rich 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1559872	Erich1	glutamate-rich 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559872	Erich1	glutamate-rich 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:0060233	cardiofaciocutaneous syndrome		ISO	RGD:1343782	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome	PMID:28492532
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:0060260	ptosis		ISO	RGD:1343782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:23791108|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27699752|PMID:28492532|PMID:29734338|PMID:30266093|PMID:31355538|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:1343782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 1	PMID:23791108|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27226556|PMID:27699752|PMID:28492532|PMID:29402968|PMID:29734338|PMID:30266093|PMID:31355538|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:0060586	Noonan syndrome 8		ISO	RGD:1343782	D	RGD:7240710	20140911	OMIM			
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:0060586	Noonan syndrome 8		ISO	RGD:1343782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 8 | ClinVar Annotator: match by term: RIT1-related condition	PMID:17576681|PMID:23765226|PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:26518681|PMID:2657980|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:27699752|PMID:27993330|PMID:28323383|PMID:28347726|PMID:28425981|PMID:28492532|PMID:28554332|PMID:28748642|PMID:29402968|PMID:29734338|PMID:30266093|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30872527|PMID:31040167|PMID:31355538|PMID:31573083|PMID:32304219|PMID:32766847|PMID:33128510|PMID:33144663|PMID:33190430|PMID:33258288|PMID:33452774|PMID:33794220|PMID:34008892|PMID:34237269|PMID:34306696|PMID:34358384|PMID:34906519|PMID:35352813|PMID:35418694|PMID:36274670|PMID:37568403|PMID:38004723|PMID:7109146|PMID:9536098
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:0060586	Noonan syndrome 8		ISS	RGD:1316972	D	RGD:13592920	20230718	MouseDO		OMIM:615355	
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:0070648	cherubism		ISO	RGD:1343782	D	RGD:8554872	20250805	ClinVar		ClinVar Annotator: match by term: Fibrous dysplasia of jaw	PMID:28492532
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:0080690	RASopathy		ISO	RGD:1343782	D	RGD:11086309|PMID:26714497	20221028	RGD		DNA:missense mutation:exon:multiple 9human)	
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:0080690	RASopathy		ISO	RGD:1343782	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:28347726|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:32304219|PMID:32396283|PMID:32860008|PMID:33144663|PMID:33452774|PMID:33794220|PMID:34008892|PMID:34237269|PMID:34306696|PMID:7109146|PMID:8462668
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:0080690	RASopathy		ISO	RGD:1343782	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24939608|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:28347726|PMID:28425981|PMID:28492532|PMID:29734338|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30872527|PMID:31040167|PMID:32304219|PMID:32766847|PMID:33128510|PMID:33144663|PMID:33452774|PMID:33794220|PMID:34008892|PMID:34237269|PMID:34306696|PMID:34906519|PMID:37568403|PMID:7109146
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:1115	sarcoma		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:23765226|PMID:24033266|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25741868|PMID:2657980|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27993330|PMID:28492532|PMID:30872527|PMID:32766847
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1343782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23791108|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27699752|PMID:28492532|PMID:29402968|PMID:29734338|PMID:30266093|PMID:31355538|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:25741868|PMID:26446362|PMID:26714497|PMID:26757980|PMID:28347726|PMID:28492532|PMID:32766847|PMID:33128510|PMID:33794220
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:1826	epilepsy		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24033266|PMID:25741868|PMID:26518681|PMID:27101134|PMID:28492532|PMID:28554332|PMID:29734338
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1343782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:23791108|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27699752|PMID:28492532|PMID:29402968|PMID:29734338|PMID:30266093|PMID:31355538|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prolonged QT interval	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1316972	D	RGD:151667911|PMID:30872527	20221028	RGD			
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1316972	D	RGD:155631269|PMID:30898653	20221028	RGD			
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1343782	D	RGD:11086309|PMID:26714497	20221028	RGD		DNA:missense mutation:exon:multiple 9human)	
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1343782	D	RGD:11096563|PMID:25049390	20221028	RGD		DNA:missense mutations:exon:multiple (human)	
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1343782	D	RGD:11097409|PMID:26757980	20221028	RGD		DNA:missense mutations:exon:multiple (human)	
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1343782	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:23765226|PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:2657980|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:27699752|PMID:27993330|PMID:28347726|PMID:28492532|PMID:29402968|PMID:29493581|PMID:29734338|PMID:30266093|PMID:30293990|PMID:30712878|PMID:30872527|PMID:31040167|PMID:31355538|PMID:32304219|PMID:32766847|PMID:33128510|PMID:33144663|PMID:33190430|PMID:33452774|PMID:33794220|PMID:34008892|PMID:34237269|PMID:34306696|PMID:34358384|PMID:35101336|PMID:35418694|PMID:36274670|PMID:37568403|PMID:7109146|PMID:8462668
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:4977	lymphedema		ISO	RGD:1343782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:23791108|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27699752|PMID:28492532|PMID:29734338|PMID:30266093|PMID:31355538|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:535	sleep disorder		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:630	genetic disease		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:25741868|PMID:26446362|PMID:26714497|PMID:26757980|PMID:28347726|PMID:28492532|PMID:32766847|PMID:33128510|PMID:33794220
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25741868|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28347726|PMID:28492532|PMID:29402968|PMID:32766847|PMID:33128510|PMID:33794220
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1343782	D	RGD:152999016|PMID:31247273	20220718	RGD		human cells in mouse model	
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:23791108|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27226556|PMID:28492532
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9000323	Biventricular Hypertrophy		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Biventricular hypertrophy	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9000727	Syncope		ISO	RGD:1343782	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: fainting	PMID:23791108|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27226556|PMID:28492532|PMID:34008892
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9000965	Neoplasm Metastasis	ameliorates	ISO	RGD:1343782	D	RGD:152999018|PMID:30348939	20220719	RGD		associated with esophagus squamous cell carcinoma; human cells in mouse model	
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:23791108|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27226556|PMID:28492532
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343782	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9002647	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome		ISO	RGD:1343782	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome	PMID:24469055|PMID:25741868|PMID:28492532
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1343782	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:24033266|PMID:25741868|PMID:26518681|PMID:27101134|PMID:28492532|PMID:28554332|PMID:29734338
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:24033266|PMID:25741868|PMID:26518681|PMID:27101134|PMID:28492532|PMID:28554332|PMID:29734338
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1343782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9005745	Stillbirth		ISO	RGD:1343782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stillbirth	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9005883	Pleural Effusion		ISO	RGD:1343782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pleural effusion	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1343782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26518681|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27699752|PMID:28492532|PMID:28554332|PMID:29734338|PMID:30266093|PMID:31355538|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1343782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:23791108|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27699752|PMID:28492532|PMID:29402968|PMID:29734338|PMID:30266093|PMID:31355538|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670
1559874	Rit1	Ras-like without CAAX 1	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868|PMID:26518681|PMID:27101134|PMID:28492532|PMID:29734338
1559875	Heatr9	HEAT repeat containing 9	gene	DOID:10534	stomach cancer		ISO	RGD:1604716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559875	Heatr9	HEAT repeat containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559878	Camp	cathelicidin antimicrobial peptide	gene	DOID:0080600	COVID-19		ISO	RGD:1343513	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1559878	Camp	cathelicidin antimicrobial peptide	gene	DOID:10461	dentin caries		IEP		D	RGD:408427365|PMID:29396644	20241125	RGD			
1559878	Camp	cathelicidin antimicrobial peptide	gene	DOID:4989	pancreatitis		IEP		D	RGD:441221244|PMID:26370175	20241126	RGD		protein:decreased expression:pancreatic islet	
1559878	Camp	cathelicidin antimicrobial peptide	gene	DOID:8881	rosacea		ISO	RGD:1343513	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35926563
1559878	Camp	cathelicidin antimicrobial peptide	gene	DOID:9000113	Pneumococcal Meningitis		IEP		D	RGD:2316237|PMID:19879657	20100202	RGD		protein:increased expression:brain, coronal section (rat)	
1559878	Camp	cathelicidin antimicrobial peptide	gene	DOID:9001934	Neonatal Sepsis	ameliorates	ISO	RGD:1343513	D	RGD:458925287|PMID:15645239	20241202	RGD			
1559878	Camp	cathelicidin antimicrobial peptide	gene	DOID:9002311	Experimental Autoimmune Myocarditis	disease_progression	ISO	RGD:1557770	D	RGD:408427364|PMID:23867818	20241125	RGD			
1559878	Camp	cathelicidin antimicrobial peptide	gene	DOID:9004484	Sepsis		IMP		D	RGD:2316243|PMID:17142779	20100202	RGD			
1559878	Camp	cathelicidin antimicrobial peptide	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559878	Camp	cathelicidin antimicrobial peptide	gene	DOID:9006976	Erythema		ISO	RGD:1343513	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35926563
1559878	Camp	cathelicidin antimicrobial peptide	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559879	Ak9	adenylate kinase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559879	Ak9	adenylate kinase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559879	Ak9	adenylate kinase 9	gene	DOID:0070588	spermatogenic failure 89		ISO	RGD:1354002	D	RGD:7240710	20240214	OMIM			
1559879	Ak9	adenylate kinase 9	gene	DOID:0070588	spermatogenic failure 89		ISO	RGD:1354002	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 89 | ClinVar Annotator: match by term: Spermatogenic failure 89	PMID:25741868
1559879	Ak9	adenylate kinase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559879	Ak9	adenylate kinase 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559879	Ak9	adenylate kinase 9	gene	DOID:1115	sarcoma		ISO	RGD:1354002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559879	Ak9	adenylate kinase 9	gene	DOID:1572	normal pressure hydrocephalus		ISS	RGD:2301662	D	RGD:13592920	20240314	MouseDO		OMIM:236690	
1559879	Ak9	adenylate kinase 9	gene	DOID:1909	melanoma		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559879	Ak9	adenylate kinase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559879	Ak9	adenylate kinase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559879	Ak9	adenylate kinase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1354002	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559879	Ak9	adenylate kinase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559879	Ak9	adenylate kinase 9	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1354002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1559879	Ak9	adenylate kinase 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1559879	Ak9	adenylate kinase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559879	Ak9	adenylate kinase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559882	Arhgap28	Rho GTPase activating protein 28	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559882	Arhgap28	Rho GTPase activating protein 28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559882	Arhgap28	Rho GTPase activating protein 28	gene	DOID:10534	stomach cancer		ISO	RGD:1347841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559882	Arhgap28	Rho GTPase activating protein 28	gene	DOID:1205	allergic disease	susceptibility	ISO	RGD:1347841	D	RGD:407431649|PMID:33768542	20240820	RGD		associated with acute lymphoblastic leukemia;DNA:SNP::rs9958628(human)	
1559882	Arhgap28	Rho GTPase activating protein 28	gene	DOID:1324	lung cancer		ISO	RGD:1347841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559882	Arhgap28	Rho GTPase activating protein 28	gene	DOID:289	endometriosis		ISO	RGD:1347841	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1559882	Arhgap28	Rho GTPase activating protein 28	gene	DOID:3275	thymoma		ISO	RGD:1347841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559882	Arhgap28	Rho GTPase activating protein 28	gene	DOID:3565	meningioma	severity	ISO	RGD:1347841	D	RGD:401827824|PMID:19885562	20240820	RGD			
1559882	Arhgap28	Rho GTPase activating protein 28	gene	DOID:4362	cervical cancer		ISO	RGD:1347841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559882	Arhgap28	Rho GTPase activating protein 28	gene	DOID:5041	esophageal cancer		ISO	RGD:1347841	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559884	Plekhs1	pleckstrin homology domain containing S1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559884	Plekhs1	pleckstrin homology domain containing S1	gene	DOID:10534	stomach cancer		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559884	Plekhs1	pleckstrin homology domain containing S1	gene	DOID:10603	glucose intolerance		IEP		D	RGD:11532750|PMID:27523322	20160906	RGD		associated with obesity;	
1559884	Plekhs1	pleckstrin homology domain containing S1	gene	DOID:1324	lung cancer		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559884	Plekhs1	pleckstrin homology domain containing S1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1344870	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25261935
1559884	Plekhs1	pleckstrin homology domain containing S1	gene	DOID:4362	cervical cancer		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559884	Plekhs1	pleckstrin homology domain containing S1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559884	Plekhs1	pleckstrin homology domain containing S1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559884	Plekhs1	pleckstrin homology domain containing S1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559884	Plekhs1	pleckstrin homology domain containing S1	gene	DOID:9007692	Insulin Resistance		IEP		D	RGD:11532750|PMID:27523322	20160906	RGD		associated with obesity;	
1559884	Plekhs1	pleckstrin homology domain containing S1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559885	Prrt4	proline-rich transmembrane protein 4	gene	DOID:0080600	COVID-19		ISO	RGD:3051273	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1559885	Prrt4	proline-rich transmembrane protein 4	gene	DOID:1115	sarcoma		ISO	RGD:3051273	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559885	Prrt4	proline-rich transmembrane protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:3051273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559885	Prrt4	proline-rich transmembrane protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3051273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559891	Sycp3l1	synaptonemal complex protein 3 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559891	Sycp3l1	synaptonemal complex protein 3 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559891	Sycp3l1	synaptonemal complex protein 3 like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559895	Mettl17	methyltransferase like 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559895	Mettl17	methyltransferase like 17	gene	DOID:10534	stomach cancer		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559895	Mettl17	methyltransferase like 17	gene	DOID:1115	sarcoma		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559895	Mettl17	methyltransferase like 17	gene	DOID:1324	lung cancer		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559895	Mettl17	methyltransferase like 17	gene	DOID:4362	cervical cancer		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559895	Mettl17	methyltransferase like 17	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559895	Mettl17	methyltransferase like 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559895	Mettl17	methyltransferase like 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559895	Mettl17	methyltransferase like 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559895	Mettl17	methyltransferase like 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559895	Mettl17	methyltransferase like 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559895	Mettl17	methyltransferase like 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559896	C19h1orf198	similar to human chromosome 1 open reading frame 198	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602995	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559896	C19h1orf198	similar to human chromosome 1 open reading frame 198	gene	DOID:10534	stomach cancer		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559896	C19h1orf198	similar to human chromosome 1 open reading frame 198	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559896	C19h1orf198	similar to human chromosome 1 open reading frame 198	gene	DOID:1115	sarcoma		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559896	C19h1orf198	similar to human chromosome 1 open reading frame 198	gene	DOID:4362	cervical cancer		ISO	RGD:1602995	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559896	C19h1orf198	similar to human chromosome 1 open reading frame 198	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559896	C19h1orf198	similar to human chromosome 1 open reading frame 198	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559896	C19h1orf198	similar to human chromosome 1 open reading frame 198	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559896	C19h1orf198	similar to human chromosome 1 open reading frame 198	gene	DOID:9256	colorectal cancer		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1559897	Oscar	osteoclast associated Ig-like receptor	gene	DOID:1115	sarcoma		ISO	RGD:1603587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559897	Oscar	osteoclast associated Ig-like receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559897	Oscar	osteoclast associated Ig-like receptor	gene	DOID:9000927	Alveolar Bone Loss	treatment	IEP		D	RGD:329956421|PMID:33364953	20230720	RGD		associated with hypertension, periodontal disease	
1559899	Clec18a	C-type lectin domain family 18, member A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559899	Clec18a	C-type lectin domain family 18, member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559901	Mrps11	mitochondrial ribosomal protein S11	gene	DOID:1324	lung cancer		ISO	RGD:1350817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559901	Mrps11	mitochondrial ribosomal protein S11	gene	DOID:1909	melanoma		ISO	RGD:1350817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559901	Mrps11	mitochondrial ribosomal protein S11	gene	DOID:4362	cervical cancer		ISO	RGD:1350817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559901	Mrps11	mitochondrial ribosomal protein S11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559901	Mrps11	mitochondrial ribosomal protein S11	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1350817	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1559901	Mrps11	mitochondrial ribosomal protein S11	gene	DOID:9000918	Disease Progression		ISO	RGD:1350817	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1559901	Mrps11	mitochondrial ribosomal protein S11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559901	Mrps11	mitochondrial ribosomal protein S11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559904	Virma	vir like m6A methyltransferase associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559904	Virma	vir like m6A methyltransferase associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559904	Virma	vir like m6A methyltransferase associated	gene	DOID:10534	stomach cancer		ISO	RGD:1603673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559904	Virma	vir like m6A methyltransferase associated	gene	DOID:1324	lung cancer		ISO	RGD:1603673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559904	Virma	vir like m6A methyltransferase associated	gene	DOID:1909	melanoma		ISO	RGD:1603673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559904	Virma	vir like m6A methyltransferase associated	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559904	Virma	vir like m6A methyltransferase associated	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1559904	Virma	vir like m6A methyltransferase associated	gene	DOID:4362	cervical cancer		ISO	RGD:1603673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559904	Virma	vir like m6A methyltransferase associated	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1559904	Virma	vir like m6A methyltransferase associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559904	Virma	vir like m6A methyltransferase associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559904	Virma	vir like m6A methyltransferase associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559904	Virma	vir like m6A methyltransferase associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559904	Virma	vir like m6A methyltransferase associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559905	Morc4	MORC family CW-type zinc finger 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559905	Morc4	MORC family CW-type zinc finger 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559905	Morc4	MORC family CW-type zinc finger 4	gene	DOID:10534	stomach cancer		ISO	RGD:1345473	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559905	Morc4	MORC family CW-type zinc finger 4	gene	DOID:1059	intellectual disability		ISO	RGD:1345473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
1559905	Morc4	MORC family CW-type zinc finger 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559905	Morc4	MORC family CW-type zinc finger 4	gene	DOID:9003816	Macrocephaly		ISO	RGD:1345473	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1559905	Morc4	MORC family CW-type zinc finger 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559905	Morc4	MORC family CW-type zinc finger 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559909	C5h1orf122	similar to human chromosome 1 open reading frame 122	gene	DOID:4362	cervical cancer		ISO	RGD:1606463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559909	C5h1orf122	similar to human chromosome 1 open reading frame 122	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559909	C5h1orf122	similar to human chromosome 1 open reading frame 122	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559918	Hoxb7	homeo box B7	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1349103	D	RGD:10402178|PMID:17018609	20151019	RGD		mRNA:increased expression:breast epithelium (human)	
1559918	Hoxb7	homeo box B7	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1349103	D	RGD:10402177|PMID:26076456	20151019	RGD		protein:increased expression:esophageal mucosa (human)	
1559918	Hoxb7	homeo box B7	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1349103	D	RGD:10402176|PMID:22911672	20151019	RGD		protein:increased expression:lung epithelium (human)	
1559918	Hoxb7	homeo box B7	gene	DOID:4362	cervical cancer		ISO	RGD:1349103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559918	Hoxb7	homeo box B7	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1349103	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1559919	Sit1	signaling threshold regulating transmembrane adaptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1601761	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559919	Sit1	signaling threshold regulating transmembrane adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559919	Sit1	signaling threshold regulating transmembrane adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559919	Sit1	signaling threshold regulating transmembrane adaptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:1115	sarcoma		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:11162	respiratory failure		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:11383	cryptorchidism		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:1324	lung cancer		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:13620	patent foramen ovale		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:1824	status epilepticus		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:9000343	Vision Disorders		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory tract infection	
1559923	Naa30	N(alpha)-acetyltransferase 30, NatC catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559926	Gpr142	G protein-coupled receptor 142	gene	DOID:10534	stomach cancer		ISO	RGD:1352818	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559926	Gpr142	G protein-coupled receptor 142	gene	DOID:3275	thymoma		ISO	RGD:1352818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559926	Gpr142	G protein-coupled receptor 142	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559926	Gpr142	G protein-coupled receptor 142	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559928	Slc25a43	solute carrier family 25, member 43	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559928	Slc25a43	solute carrier family 25, member 43	gene	DOID:3275	thymoma		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559928	Slc25a43	solute carrier family 25, member 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559928	Slc25a43	solute carrier family 25, member 43	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559928	Slc25a43	solute carrier family 25, member 43	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559930	Secisbp2l	SECIS binding protein 2-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559930	Secisbp2l	SECIS binding protein 2-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559930	Secisbp2l	SECIS binding protein 2-like	gene	DOID:10534	stomach cancer		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559930	Secisbp2l	SECIS binding protein 2-like	gene	DOID:1909	melanoma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559930	Secisbp2l	SECIS binding protein 2-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559930	Secisbp2l	SECIS binding protein 2-like	gene	DOID:3070	high grade glioma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1559930	Secisbp2l	SECIS binding protein 2-like	gene	DOID:4362	cervical cancer		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559930	Secisbp2l	SECIS binding protein 2-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559930	Secisbp2l	SECIS binding protein 2-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559930	Secisbp2l	SECIS binding protein 2-like	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1605418	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28604730
1559930	Secisbp2l	SECIS binding protein 2-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559930	Secisbp2l	SECIS binding protein 2-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559930	Secisbp2l	SECIS binding protein 2-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559931	Ankrd28	ankyrin repeat domain 28	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559931	Ankrd28	ankyrin repeat domain 28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559931	Ankrd28	ankyrin repeat domain 28	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559931	Ankrd28	ankyrin repeat domain 28	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1559931	Ankrd28	ankyrin repeat domain 28	gene	DOID:4362	cervical cancer		ISO	RGD:1343361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559931	Ankrd28	ankyrin repeat domain 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559931	Ankrd28	ankyrin repeat domain 28	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559936	Kif19	kinesin family member 19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559936	Kif19	kinesin family member 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559936	Kif19	kinesin family member 19	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1603919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:0110608	primary ciliary dyskinesia 19		ISO	RGD:1351490	D	RGD:7240710	20171011	OMIM			
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:0110608	primary ciliary dyskinesia 19		ISO	RGD:1351490	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 19 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 19 | ClinVar Annotator: match by term: DNAAF11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 19 | ClinVar Annotator: match by term: primary ciliary dyskinesia 19	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20301301|PMID:20307669|PMID:22406018|PMID:23122589|PMID:23891469|PMID:25640679|PMID:25741868|PMID:27637300|PMID:28492532|PMID:29429202|PMID:29511670|PMID:30300419|PMID:31650533|PMID:31690835|PMID:36515799|PMID:41062319|PMID:9536098
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:0110608	primary ciliary dyskinesia 19		ISS	RGD:1557730	D	RGD:13592920	20230718	MouseDO		OMIM:614935	
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:25741868|PMID:27637300|PMID:28492532|PMID:36515799
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:1324	lung cancer		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:1909	melanoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:5223	infertility		ISO	RGD:1351490	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Infertility	PMID:28492532|PMID:30300419
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1351490	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:25741868|PMID:28492532
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559937	Dnaaf11	dynein axonemal assembly factor 11	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1351490	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:23122589|PMID:23891469|PMID:24307375|PMID:25741868|PMID:26139845|PMID:26228299|PMID:28492532
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1346322	D	RGD:11554173	20221011	CTD		CTD Direct Evidence: marker/mechanism	
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1346322	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B	PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:22871920|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:30362618|PMID:30561787|PMID:31374812|PMID:31831025|PMID:32056211|PMID:32214227|PMID:9398847|PMID:9398848|PMID:9539740
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1346322	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD)	PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:31319225|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32959227|PMID:33083013|PMID:33708531|PMID:33955040|PMID:33955814|PMID:34513757|PMID:34744965|PMID:36046390|PMID:37385119|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1346322	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease	PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21846392|PMID:2324705|PMID:23247051|PMID:24033266|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27231023|PMID:28468868|PMID:28492532|PMID:28600779|PMID:30561787|PMID:31831025|PMID:3196484|PMID:32203225|PMID:32627857|PMID:33708531|PMID:34744965
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0080377	peroxisomal biogenesis disorder		ISO	RGD:1346322	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9398847|PMID:9398848|PMID:9539740
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0080476	peroxisome biogenesis disorder 1A		ISO	RGD:1346322	D	RGD:7240710	20190306	OMIM			
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0080476	peroxisome biogenesis disorder 1A		ISO	RGD:1346322	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a	PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21846392|PMID:2324705|PMID:23247051|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27231023|PMID:27469511|PMID:27882258|PMID:28432012|PMID:28468868|PMID:28492532|PMID:28600779|PMID:28857144|PMID:29419819|PMID:30561787|PMID:31831025|PMID:31964843|PMID:32203225|PMID:32596134|PMID:32627857|PMID:33708531|PMID:34744965|PMID:37567036|PMID:9398847
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0080623	Heimler syndrome 1		ISO	RGD:1346322	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0080623	Heimler syndrome 1		ISO	RGD:1346322	D	RGD:7240710	20171011	OMIM			
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0080623	Heimler syndrome 1		ISO	RGD:1346322	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C	PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21846392|PMID:2324705|PMID:23247051|PMID:24033266|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27231023|PMID:27302843|PMID:27469511|PMID:28468868|PMID:28492532|PMID:28600779|PMID:30561787|PMID:31831025|PMID:3196484|PMID:32203225|PMID:32627857|PMID:33708531|PMID:34744965|PMID:35379322|PMID:9398847
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0081240	peroxisome biogenesis disorder 1B		ISO	RGD:1346322	D	RGD:7240710	20221005	OMIM			
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:0081240	peroxisome biogenesis disorder 1B		ISO	RGD:1346322	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B	PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21846392|PMID:2324705|PMID:23247051|PMID:24033266|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:28468868|PMID:28492532|PMID:28600779|PMID:31831025|PMID:32203225|PMID:32627857|PMID:33708531|PMID:34744965|PMID:9398847
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1346322	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa, syndromic	PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:19105186|PMID:21031596|PMID:21846392|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:28559085|PMID:29377746|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30577886|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31664448|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32866347|PMID:33749171|PMID:34426522|PMID:34758253|PMID:35586607|PMID:36631813|PMID:9398847|PMID:9398848
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1346322	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15098231|PMID:15542397|PMID:16141001|PMID:17055079|PMID:20952722|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:28468868|PMID:28492532|PMID:31831025|PMID:32627857
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:12849	autistic disorder		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:28559085|PMID:29377746|PMID:29588463|PMID:29907799|PMID:30362618|PMID:30577886|PMID:31150129|PMID:31216405|PMID:31319225|PMID:31374812|PMID:31589614|PMID:31664448|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32866347|PMID:33749171|PMID:34426522|PMID:34758253|PMID:35586607|PMID:36631813|PMID:9398847|PMID:9398848
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1346322	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Large fontanelles	PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15098231|PMID:15542397|PMID:16141001|PMID:17055079|PMID:20952722|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:28468868|PMID:28492532|PMID:31831025|PMID:32627857
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1346322	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15098231|PMID:15542397|PMID:16141001|PMID:17055079|PMID:20952722|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:28468868|PMID:28492532|PMID:31831025|PMID:32627857
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:3275	thymoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346322	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:5723	optic atrophy		ISO	RGD:1346322	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15098231|PMID:15542397|PMID:16141001|PMID:17055079|PMID:20952722|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:28468868|PMID:28492532|PMID:31831025|PMID:32627857
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:630	genetic disease		ISO	RGD:1346322	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15098231|PMID:15542397|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20952722|PMID:21031596|PMID:2324705|PMID:23247051|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:28397838|PMID:28468868|PMID:28492532|PMID:31831025|PMID:32203225|PMID:32627857|PMID:33708531
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1346322	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16141001|PMID:17055079|PMID:20952722|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:28468868|PMID:28492532|PMID:31831025|PMID:3196484|PMID:32627857
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1346322	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15098231|PMID:15542397|PMID:16141001|PMID:17055079|PMID:20952722|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:28468868|PMID:28492532|PMID:31831025|PMID:32627857
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:9006420	Zellweger Leukodystrophy		ISO	RGD:1346322	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Zellweger leukodystrophy	PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21846392|PMID:2324705|PMID:23247051|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:28468868|PMID:28492532|PMID:28600779|PMID:31831025|PMID:32203225|PMID:32627857|PMID:33708531|PMID:34744965|PMID:9398847
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1346322	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15098231|PMID:15542397|PMID:16141001|PMID:17055079|PMID:20952722|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:28468868|PMID:28492532|PMID:31831025|PMID:32627857
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:905	Zellweger syndrome		ISO	RGD:1346322	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9539740|PMID:10447258|PMID:26319495
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:905	Zellweger syndrome		ISO	RGD:1346322	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome	PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28857144|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31319225|PMID:31374812|PMID:31628608|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32596134|PMID:32866347|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33726816|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:905	Zellweger syndrome		ISO	RGD:1346322	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome	PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:25741916|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28600779|PMID:28857144|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31319225|PMID:31374812|PMID:31628608|PMID:31742715|PMID:31831025|PMID:31964843|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32596134|PMID:32866347|PMID:32959227|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33726816|PMID:33955040|PMID:33955814|PMID:34448047|PMID:34513757|PMID:34744965|PMID:34974531|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:905	Zellweger syndrome		ISO	RGD:1346322	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome	PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:20952722|PMID:21031596|PMID:21846392|PMID:2324705|PMID:23247051|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27231023|PMID:27469511|PMID:27882258|PMID:28432012|PMID:28468868|PMID:28492532|PMID:28857144|PMID:30561787|PMID:31319225|PMID:31742715|PMID:31831025|PMID:3196484|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32627857|PMID:32959227|PMID:33240318|PMID:33708531|PMID:33726816|PMID:34448047|PMID:34671977|PMID:34744965|PMID:36307859|PMID:36511274|PMID:37204857|PMID:37871882|PMID:40112482|PMID:9398847|PMID:9536098
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:905	Zellweger syndrome		ISO	RGD:1557211	D	RGD:25671425|PMID:24503136	20200427	RGD		DNA:missense mutation:exon 15: p.G844D (c.2531G>A) (mouse)	
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:905	Zellweger syndrome		ISO	RGD:1557211	D	RGD:25671426|PMID:31207289	20200427	RGD		DNA:SNP:exon 15: c.2531G>A (p. G844D) (mouse)	
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:905	Zellweger syndrome		ISS	RGD:1557211	D	RGD:13592920	20230718	MouseDO			
1559939	Pex1	peroxisomal biogenesis factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1559942	Cfap44	cilia and flagella associated protein 44	gene	DOID:0070166	spermatogenic failure 20		ISO	RGD:1343890	D	RGD:7240710	20190315	OMIM			
1559942	Cfap44	cilia and flagella associated protein 44	gene	DOID:0070166	spermatogenic failure 20		ISS	RGD:1619017	D	RGD:13592920	20230718	MouseDO		OMIM:617593	
1559953	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559953	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1343968	D	RGD:11038800|PMID:24244432	20160225	RGD		mRNA:splice variant:bone marrow, hematopoietic stem cell (human)	
1559953	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559953	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343968	D	RGD:11038799|PMID:24007566	20160225	RGD		mRNA:splicing variant:peripheral blood mononuclear cell (human)	
1559953	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343968	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1559953	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:1324	lung cancer		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559953	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:3070	high grade glioma		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1559953	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:4362	cervical cancer		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559953	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1343968	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559953	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559953	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559953	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559953	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559953	Srsf11	serine and arginine rich splicing factor 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559958	Miga1	mitoguardin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559958	Miga1	mitoguardin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559958	Miga1	mitoguardin 1	gene	DOID:1324	lung cancer		ISO	RGD:1605523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559958	Miga1	mitoguardin 1	gene	DOID:3275	thymoma		ISO	RGD:1605523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559958	Miga1	mitoguardin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559958	Miga1	mitoguardin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559958	Miga1	mitoguardin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605523	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559958	Miga1	mitoguardin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559961	Myo19	myosin XIX	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559961	Myo19	myosin XIX	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559961	Myo19	myosin XIX	gene	DOID:10534	stomach cancer		ISO	RGD:1352895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559961	Myo19	myosin XIX	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559961	Myo19	myosin XIX	gene	DOID:1115	sarcoma		ISO	RGD:1352895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559961	Myo19	myosin XIX	gene	DOID:3275	thymoma		ISO	RGD:1352895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559961	Myo19	myosin XIX	gene	DOID:5041	esophageal cancer		ISO	RGD:1352895	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559961	Myo19	myosin XIX	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559961	Myo19	myosin XIX	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352895	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559961	Myo19	myosin XIX	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559961	Myo19	myosin XIX	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559966	Swi5	SWI5 homologous recombination repair protein	gene	DOID:10534	stomach cancer		ISO	RGD:1350090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559966	Swi5	SWI5 homologous recombination repair protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559966	Swi5	SWI5 homologous recombination repair protein	gene	DOID:1115	sarcoma		ISO	RGD:1350090	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559966	Swi5	SWI5 homologous recombination repair protein	gene	DOID:4362	cervical cancer		ISO	RGD:1350090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559966	Swi5	SWI5 homologous recombination repair protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559966	Swi5	SWI5 homologous recombination repair protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559966	Swi5	SWI5 homologous recombination repair protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:0060058	lymphoma		ISO	RGD:1603689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1603689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:3070	high grade glioma		ISO	RGD:1603689	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16865689
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1603689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1603689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603689	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:670	amphetamine abuse		ISO	RGD:1603689	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559968	Psd3	pleckstrin and Sec7 domain containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1603689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1559974	Calcoco2	calcium binding and coiled-coil domain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559974	Calcoco2	calcium binding and coiled-coil domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559974	Calcoco2	calcium binding and coiled-coil domain 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559974	Calcoco2	calcium binding and coiled-coil domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559974	Calcoco2	calcium binding and coiled-coil domain 2	gene	DOID:4362	cervical cancer		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559974	Calcoco2	calcium binding and coiled-coil domain 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601886	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559974	Calcoco2	calcium binding and coiled-coil domain 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1601886	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1559974	Calcoco2	calcium binding and coiled-coil domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559974	Calcoco2	calcium binding and coiled-coil domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559974	Calcoco2	calcium binding and coiled-coil domain 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1601886	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
1559974	Calcoco2	calcium binding and coiled-coil domain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559981	Lrrc27	leucine rich repeat containing 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559981	Lrrc27	leucine rich repeat containing 27	gene	DOID:10534	stomach cancer		ISO	RGD:1318562	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559981	Lrrc27	leucine rich repeat containing 27	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559981	Lrrc27	leucine rich repeat containing 27	gene	DOID:1115	sarcoma		ISO	RGD:1318562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559981	Lrrc27	leucine rich repeat containing 27	gene	DOID:1324	lung cancer		ISO	RGD:1318562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559981	Lrrc27	leucine rich repeat containing 27	gene	DOID:1909	melanoma		ISO	RGD:1318562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559981	Lrrc27	leucine rich repeat containing 27	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559981	Lrrc27	leucine rich repeat containing 27	gene	DOID:3275	thymoma		ISO	RGD:1318562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559981	Lrrc27	leucine rich repeat containing 27	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1559981	Lrrc27	leucine rich repeat containing 27	gene	DOID:4362	cervical cancer		ISO	RGD:1318562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559981	Lrrc27	leucine rich repeat containing 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1318562	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559981	Lrrc27	leucine rich repeat containing 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559981	Lrrc27	leucine rich repeat containing 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559981	Lrrc27	leucine rich repeat containing 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559983	Fn3k	fructosamine 3 kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559983	Fn3k	fructosamine 3 kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559983	Fn3k	fructosamine 3 kinase	gene	DOID:1324	lung cancer		ISO	RGD:1350348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559983	Fn3k	fructosamine 3 kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1559983	Fn3k	fructosamine 3 kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559983	Fn3k	fructosamine 3 kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559985	Cfap46	cilia and flagella associated protein 46	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559985	Cfap46	cilia and flagella associated protein 46	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	
1559985	Cfap46	cilia and flagella associated protein 46	gene	DOID:1115	sarcoma		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559985	Cfap46	cilia and flagella associated protein 46	gene	DOID:1909	melanoma		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559985	Cfap46	cilia and flagella associated protein 46	gene	DOID:3070	high grade glioma		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1559985	Cfap46	cilia and flagella associated protein 46	gene	DOID:4362	cervical cancer		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559985	Cfap46	cilia and flagella associated protein 46	gene	DOID:5041	esophageal cancer		ISO	RGD:1350822	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559985	Cfap46	cilia and flagella associated protein 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559985	Cfap46	cilia and flagella associated protein 46	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559985	Cfap46	cilia and flagella associated protein 46	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	
1559985	Cfap46	cilia and flagella associated protein 46	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559985	Cfap46	cilia and flagella associated protein 46	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	
1559985	Cfap46	cilia and flagella associated protein 46	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559985	Cfap46	cilia and flagella associated protein 46	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:10534	stomach cancer		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:1115	sarcoma		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:1324	lung cancer		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:1909	melanoma		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:4362	cervical cancer		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:5041	esophageal cancer		ISO	RGD:1348358	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1348358	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:36401616
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:9006574	NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1348358	D	RGD:7240710	20230505	OMIM			
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:9006574	NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1348358	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities | ClinVar Annotator: match by term: UBE3C-related disorder	PMID:25741868|PMID:36401616
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1559986	Ube3c	ubiquitin protein ligase E3C	gene	DOID:9256	colorectal cancer		ISO	RGD:1348358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1559988	Chchd2l2	coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 2	gene	DOID:0080504	Parkinson's disease 22		ISO	RGD:1320361	D	RGD:7240710	20260513	OMIM			
1559988	Chchd2l2	coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 2	gene	DOID:0080504	Parkinson's disease 22		ISO	RGD:1320361	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHCHD2-related condition | ClinVar Annotator: match by term: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant	PMID:25662902|PMID:25741868|PMID:26067110|PMID:26561290|PMID:27269965|PMID:28432706|PMID:28492532|PMID:28589937|PMID:30496485|PMID:30530185|PMID:31600778|PMID:32068847|PMID:35173147|PMID:35402650
1559988	Chchd2l2	coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1559988	Chchd2l2	coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 2	gene	DOID:1909	melanoma		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1559988	Chchd2l2	coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 2	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta	
1559988	Chchd2l2	coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1559988	Chchd2l2	coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320361	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559988	Chchd2l2	coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1559988	Chchd2l2	coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1559988	Chchd2l2	coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0050676	Birt-Hogg-Dube syndrome		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome	PMID:25741868
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1353787	D	RGD:13524568|PMID:16943309	20180423	RGD			
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polycystic Kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:10369752|PMID:10411676|PMID:10417277|PMID:10655555|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:16199547|PMID:16430766|PMID:17100995|PMID:17303584|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18837007|PMID:19936001|PMID:20439752|PMID:21115670|PMID:22008521|PMID:22383692|PMID:22508176|PMID:22863349|PMID:22995991|PMID:23300259|PMID:24374109|PMID:25491204|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27366664|PMID:27401137|PMID:27499327|PMID:27535533|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:29321346|PMID:29378535|PMID:29790872|PMID:30476936|PMID:30858458|PMID:31317121|PMID:31328266|PMID:31514750|PMID:31589614|PMID:31740684|PMID:32457805|PMID:32970388|PMID:33168999|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33964006|PMID:35325889|PMID:36422197|PMID:36938073|PMID:37028763|PMID:39188533|PMID:9326320|PMID:9536098|PMID:9949210
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0110859	polycystic kidney disease 2		ISO	RGD:1353787	D	RGD:7240710	20180418	OMIM			
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0110859	polycystic kidney disease 2		ISO	RGD:1353787	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PKD2-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 2 | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE II | ClinVar Annotator: match by term: Polycystic kidney disease 2	PMID:10023895|PMID:10369752|PMID:10411676|PMID:10417277|PMID:10541293|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11438989|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15108213|PMID:15772804|PMID:1605247|PMID:16199547|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18257781|PMID:18837007|PMID:19936001|PMID:20301424|PMID:20408813|PMID:20439752|PMID:20950398|PMID:21115670|PMID:22008521|PMID:22034641|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25333066|PMID:25491204|PMID:25741868|PMID:25741894|PMID:26150605|PMID:26453610|PMID:26467025|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27535533|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28191890|PMID:28356211|PMID:28492532|PMID:28522688|PMID:28600779|PMID:29038287|PMID:29321346|PMID:29378535|PMID:29520754|PMID:29790872|PMID:29801666|PMID:30476936|PMID:30816285|PMID:30820006|PMID:30858458|PMID:30989420|PMID:31317121|PMID:31589614|PMID:31740684|PMID:31922066|PMID:32332171|PMID:32457805|PMID:32582798|PMID:32970388|PMID:33141305|PMID:33168999|PMID:33226606|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34008892|PMID:34101167|PMID:35627274|PMID:35778421|PMID:36186434|PMID:36307859|PMID:36422197|PMID:36773205|PMID:36833371|PMID:36938073|PMID:37028763|PMID:37372416|PMID:37509056|PMID:37543885|PMID:37909612|PMID:38971859|PMID:39169606|PMID:39188533|PMID:41005473|PMID:41523913|PMID:8650545|PMID:9326320|PMID:9402976|PMID:9949210
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0110859	polycystic kidney disease 2		ISS	RGD:1558338	D	RGD:13592920	20230718	MouseDO		OMIM:613095	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20170912	ClinVar		ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease	PMID:25741868
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0110873	holoprosencephaly 9		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar cyst	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:0111002	Joubert syndrome 7		ISO	RGD:1353787	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 7	PMID:11968093|PMID:19936001|PMID:25741868|PMID:26467025|PMID:27535533|PMID:27884173|PMID:27894351|PMID:28492532
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:10534	stomach cancer		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:1074	kidney failure		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney failure	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:1353787	D	RGD:1580867|PMID:12842373	19990101	RGD		DNA:mutations:multiple (human)	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:1115	sarcoma		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:12215	oligohydramnios		ISO	RGD:1353787	D	RGD:8554872	20220315	ClinVar		ClinVar Annotator: match by term: Anhydramnios	PMID:25741868|PMID:35005812
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:12849	autistic disorder		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1353787	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25013951
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:13001	carotid stenosis		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carotid artery stenosis	PMID:25741868
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:1459	hypothyroidism		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:1682	congenital heart disease		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:178	vascular disease		ISO	RGD:1353787	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25013951
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:2975	cystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cystic renal disease | ClinVar Annotator: match by term: Renal cyst	PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10655555|PMID:10760080|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:16223735|PMID:16430766|PMID:17303584|PMID:17574468|PMID:17582161|PMID:18178578|PMID:18664456|PMID:18837007|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:21551026|PMID:22008521|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22863349|PMID:24113780|PMID:24374109|PMID:25491204|PMID:25741868|PMID:26467025|PMID:26950445|PMID:27165007|PMID:27499327|PMID:27535533|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:29338003|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30586318|PMID:30639418|PMID:30820006|PMID:30989420|PMID:31317121|PMID:31514750|PMID:31589614|PMID:31740684|PMID:32939031|PMID:32970388|PMID:33437033|PMID:33454723|PMID:33532864|PMID:34101167|PMID:35368817|PMID:35778421|PMID:36938073|PMID:37078890|PMID:37628640|PMID:38527221|PMID:9326320|PMID:9573526|PMID:9949210
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:3021	acute kidney failure		IEP		D	RGD:7175293|PMID:12089381	20121129	RGD		protein:altered localization	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:5041	esophageal cancer		ISO	RGD:1353787	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:525	central nervous system vasculitis		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral vasculitis	PMID:25741868
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:5679	retinal disease		ISO	RGD:1353787	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25013951
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:630	genetic disease		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10835625|PMID:11007674|PMID:12707387|PMID:16199547|PMID:17582161|PMID:18837007|PMID:22185115|PMID:22383692|PMID:22863349|PMID:25741868|PMID:26467025|PMID:28356211|PMID:28492532|PMID:29529603|PMID:29790872|PMID:31740684|PMID:32457805|PMID:33639313|PMID:34101167|PMID:37909612
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:8466	retinal degeneration		ISO	RGD:1353787	D	RGD:13524568|PMID:16943309	20180423	RGD			
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:11554173	20190702	CTD		CTD Direct Evidence: marker/mechanism	PMID:12089381|PMID:15001556|PMID:24719335|PMID:25877301|PMID:28887310|PMID:30883612
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:7175279|PMID:21115670	20121129	RGD		DNA:mutations:multiple	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20881056|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22863349|PMID:22995991|PMID:23300259|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30816285|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32384474|PMID:32457805|PMID:32970388|PMID:33095447|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31317121|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18178578|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20439752|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31317121|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33168999|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18178578|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20439752|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24113780|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30586318|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31056860|PMID:31317121|PMID:31589614|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33168999|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:35497784|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:10405208|PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:17699277|PMID:18178578|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20439752|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24113780|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25646624|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27768895|PMID:27782177|PMID:27884173|PMID:27894351|PMID:27991905|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29038287|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30586318|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31056860|PMID:31317121|PMID:31488014|PMID:31589614|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33168999|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:35497784|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:10405208|PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:17699277|PMID:18178578|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20439752|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24113780|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25646624|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27768895|PMID:27782177|PMID:27884173|PMID:27894351|PMID:27991905|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29038287|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30042192|PMID:30333007|PMID:30369598|PMID:30586318|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31056860|PMID:31317121|PMID:31488014|PMID:31589614|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33168999|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:35497784|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	PMID:10405208|PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15108213|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:17699277|PMID:18178578|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20177400|PMID:20439752|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24113780|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25646624|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27768895|PMID:27782177|PMID:27884173|PMID:27894351|PMID:27991905|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29038287|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30042192|PMID:30333007|PMID:30369598|PMID:30476936|PMID:30586318|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30858458|PMID:30989420|PMID:31056860|PMID:31317121|PMID:31488014|PMID:31514750|PMID:31589614|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33168999|PMID:33315352|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:34716216|PMID:34732400|PMID:34733539|PMID:35497784|PMID:35627274|PMID:35778421|PMID:36186434|PMID:36422197|PMID:36938073|PMID:36938085|PMID:36999085|PMID:37028763|PMID:37353797|PMID:37909612|PMID:8650545|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 | ClinVar Annotator: match by term: autosomal dominant polycystic kidney disease	PMID:10369752|PMID:10541293|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11968093|PMID:12707387|PMID:14993477|PMID:15108213|PMID:16199547|PMID:17100995|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18837007|PMID:19158373|PMID:19936001|PMID:20301424|PMID:20439752|PMID:20950398|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22863349|PMID:22995991|PMID:23300259|PMID:24374109|PMID:24611717|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26692149|PMID:26950445|PMID:27071085|PMID:27401137|PMID:27499327|PMID:27535533|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:29038287|PMID:29321346|PMID:29378535|PMID:29633482|PMID:29790872|PMID:30042192|PMID:30369598|PMID:30476936|PMID:30820006|PMID:30858458|PMID:30989420|PMID:31589614|PMID:31738409|PMID:31740684|PMID:32457805|PMID:32970388|PMID:33168999|PMID:33226606|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:35497784|PMID:35778421|PMID:36422197|PMID:36938073|PMID:36999085|PMID:37028763|PMID:37372416|PMID:37509056|PMID:38765603|PMID:39188533|PMID:9536098
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1353787	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: autosomal dominant polycystic kidney disease	PMID:10369752|PMID:10411676|PMID:10417277|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:14993477|PMID:15108213|PMID:16199547|PMID:16430766|PMID:17100995|PMID:17303584|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18837007|PMID:19936001|PMID:20301424|PMID:20439752|PMID:20950398|PMID:21115670|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22863349|PMID:22995991|PMID:23300259|PMID:24374109|PMID:24611717|PMID:25491204|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26692149|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27535533|PMID:27567292|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:29038287|PMID:29321346|PMID:29378535|PMID:29633482|PMID:29790872|PMID:30042192|PMID:30369598|PMID:30476936|PMID:30820006|PMID:30858458|PMID:30989420|PMID:31589614|PMID:31738409|PMID:31740684|PMID:32457805|PMID:32970388|PMID:33168999|PMID:33226606|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:35497784|PMID:35778421|PMID:36422197|PMID:36938073|PMID:36999085|PMID:37028763|PMID:37372416|PMID:37509056|PMID:38765603|PMID:39188533|PMID:9536098|PMID:9949210
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease		ISS	RGD:1558338	D	RGD:13592920	20230718	MouseDO			
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:898	autosomal dominant polycystic kidney disease	onset	ISO	RGD:1353787	D	RGD:7175273|PMID:22863349	20121129	RGD		DNA:mutations:multiple	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353787	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9003242	Paresthesia		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysesthesia	PMID:25741868
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9006223	Kidney Reperfusion Injury		IEP		D	RGD:1580868|PMID:12454224	19990101	RGD		protein:increased expression:kidney (rat)	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:12842373|PMID:25741868|PMID:26467025|PMID:31317121|PMID:33454723
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559992	Pkd2	polycystin 2, transient receptor potential cation channel	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
1559993	Loricrin	loricrin cornified envelope precursor protein	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1347914	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
1559993	Loricrin	loricrin cornified envelope precursor protein	gene	DOID:9001125	Vohwinkel Syndrome, Variant Form		ISO	RGD:1347914	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1559993	Loricrin	loricrin cornified envelope precursor protein	gene	DOID:9001125	Vohwinkel Syndrome, Variant Form		ISO	RGD:1347914	D	RGD:7240710	20151209	OMIM			
1559993	Loricrin	loricrin cornified envelope precursor protein	gene	DOID:9001125	Vohwinkel Syndrome, Variant Form		ISO	RGD:1347914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Loricrin keratoderma | ClinVar Annotator: match by term: VOHWINKEL SYNDROME WITH ICHTHYOSIS | ClinVar Annotator: match by term: Vohwinkel syndrome with ichthyosis | ClinVar Annotator: match by term: loricrin keratoderma	PMID:11038186|PMID:11121146|PMID:22831754|PMID:25741868|PMID:25965869|PMID:28492532|PMID:31595526|PMID:32833329|PMID:8673107
1559993	Loricrin	loricrin cornified envelope precursor protein	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1347914	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
1559997	Rab32	RAB32, member RAS oncogene family	gene	DOID:1024	leprosy		ISO	RGD:1345972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22019778
1559997	Rab32	RAB32, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1559997	Rab32	RAB32, member RAS oncogene family	gene	DOID:14330	Parkinson's disease		ISO	RGD:1345972	D	RGD:11554173	20240903	CTD		CTD Direct Evidence: marker/mechanism	PMID:38858457
1559997	Rab32	RAB32, member RAS oncogene family	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1345972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
1559997	Rab32	RAB32, member RAS oncogene family	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1345972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1559997	Rab32	RAB32, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559997	Rab32	RAB32, member RAS oncogene family	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1345972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1559997	Rab32	RAB32, member RAS oncogene family	gene	DOID:9007415	Parkinson's Disease 26		ISO	RGD:1345972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease 26, autosomal dominant, susceptibility to	
1559997	Rab32	RAB32, member RAS oncogene family	gene	DOID:9007415	Parkinson's Disease 26	susceptibility	ISO	RGD:1345972	D	RGD:7240710	20240828	OMIM			
1559998	Ccdc154	coiled-coil domain containing 154	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2299193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1559998	Ccdc154	coiled-coil domain containing 154	gene	DOID:0060058	lymphoma		ISO	RGD:2299193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1559998	Ccdc154	coiled-coil domain containing 154	gene	DOID:0110942	autosomal recessive osteopetrosis 1		ISS	RGD:1619887	D	RGD:13592920	20190103	MouseDO		OMIM:259700	
1559998	Ccdc154	coiled-coil domain containing 154	gene	DOID:10534	stomach cancer		ISO	RGD:2299193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1559998	Ccdc154	coiled-coil domain containing 154	gene	DOID:1115	sarcoma		ISO	RGD:2299193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1559998	Ccdc154	coiled-coil domain containing 154	gene	DOID:3275	thymoma		ISO	RGD:2299193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1559998	Ccdc154	coiled-coil domain containing 154	gene	DOID:4362	cervical cancer		ISO	RGD:2299193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1559998	Ccdc154	coiled-coil domain containing 154	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2299193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1559998	Ccdc154	coiled-coil domain containing 154	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2299193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1559998	Ccdc154	coiled-coil domain containing 154	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2299193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1559998	Ccdc154	coiled-coil domain containing 154	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2299193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560005	Zdbf2	zinc finger, DBF-type containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1605970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560005	Zdbf2	zinc finger, DBF-type containing 2	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1605970	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1560005	Zdbf2	zinc finger, DBF-type containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560005	Zdbf2	zinc finger, DBF-type containing 2	gene	DOID:9005806	Nasopalpebral Lipoma Coloboma Syndrome		ISO	RGD:1605970	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome	PMID:27139419
1560005	Zdbf2	zinc finger, DBF-type containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560005	Zdbf2	zinc finger, DBF-type containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1605970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560007	Pdzd11	PDZ domain containing 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560007	Pdzd11	PDZ domain containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560007	Pdzd11	PDZ domain containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560007	Pdzd11	PDZ domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560007	Pdzd11	PDZ domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560007	Pdzd11	PDZ domain containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560008	Grem2	gremlin 2, DAN family BMP antagonist	gene	DOID:9008387	Selective Tooth Agenesis 9		ISO	RGD:1350364	D	RGD:7240710	20190315	OMIM			
1560008	Grem2	gremlin 2, DAN family BMP antagonist	gene	DOID:9008387	Selective Tooth Agenesis 9		ISO	RGD:1350364	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 9 | ClinVar Annotator: match by term: Tooth agenesis, selective, 9	PMID:25741868
1560009	Hmgxb3	HMG-box containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560009	Hmgxb3	HMG-box containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560009	Hmgxb3	HMG-box containing 3	gene	DOID:0060058	lymphoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560009	Hmgxb3	HMG-box containing 3	gene	DOID:1115	sarcoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560009	Hmgxb3	HMG-box containing 3	gene	DOID:1324	lung cancer		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560009	Hmgxb3	HMG-box containing 3	gene	DOID:3275	thymoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560009	Hmgxb3	HMG-box containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560009	Hmgxb3	HMG-box containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:2302190	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560009	Hmgxb3	HMG-box containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560009	Hmgxb3	HMG-box containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560009	Hmgxb3	HMG-box containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560009	Hmgxb3	HMG-box containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2302190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560010	C2h4orf46	similar to human chromosome 4 open reading frame 46	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560010	C2h4orf46	similar to human chromosome 4 open reading frame 46	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560010	C2h4orf46	similar to human chromosome 4 open reading frame 46	gene	DOID:10534	stomach cancer		ISO	RGD:1606430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560010	C2h4orf46	similar to human chromosome 4 open reading frame 46	gene	DOID:5041	esophageal cancer		ISO	RGD:1606430	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560010	C2h4orf46	similar to human chromosome 4 open reading frame 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560010	C2h4orf46	similar to human chromosome 4 open reading frame 46	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:0080600	COVID-19		ISO	RGD:1352491	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:10534	stomach cancer		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:1115	sarcoma		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:1324	lung cancer		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:1909	melanoma		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:3275	thymoma		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:4362	cervical cancer		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:5041	esophageal cancer		ISO	RGD:1352491	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:6039	uveal melanoma		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:684	hepatocellular carcinoma		ISS	RGD:1558458	D	RGD:13592920	20180518	MouseDO		OMIM:114550	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560011	Uaca	uveal autoantigen with coiled-coil domains and ankyrin repeats	gene	DOID:9256	colorectal cancer		ISO	RGD:1352491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:10283	prostate cancer		ISO	RGD:1604355	D	RGD:8554872	20211228	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:10534	stomach cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:1115	sarcoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:1324	lung cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:1909	melanoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:2394	ovarian cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:4362	cervical cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:5041	esophageal cancer		ISO	RGD:1604355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:6039	uveal melanoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:9001488	Human Influenza		ISO	RGD:1604355	D	RGD:11554173	20211228	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560014	Ddx60	DEXD/H-box helicase 60	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560016	Vps37a	VPS37A subunit of ESCRT-I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560016	Vps37a	VPS37A subunit of ESCRT-I	gene	DOID:0080743	transverse myelitis		ISO	RGD:1604528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Idiopathic transverse myelitis	PMID:25741868|PMID:28492532|PMID:29473047|PMID:29908077
1560016	Vps37a	VPS37A subunit of ESCRT-I	gene	DOID:0110805	hereditary spastic paraplegia 53		ISO	RGD:1604528	D	RGD:7240710	20140911	OMIM			
1560016	Vps37a	VPS37A subunit of ESCRT-I	gene	DOID:0110805	hereditary spastic paraplegia 53		ISO	RGD:1604528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 53, autosomal recessive	PMID:16199547|PMID:17576681|PMID:22717650|PMID:25741868|PMID:28492532|PMID:29473047|PMID:29908077|PMID:34779508|PMID:9536098
1560016	Vps37a	VPS37A subunit of ESCRT-I	gene	DOID:10534	stomach cancer		ISO	RGD:1604528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560016	Vps37a	VPS37A subunit of ESCRT-I	gene	DOID:1909	melanoma		ISO	RGD:1604528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560016	Vps37a	VPS37A subunit of ESCRT-I	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1604528	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532
1560016	Vps37a	VPS37A subunit of ESCRT-I	gene	DOID:4362	cervical cancer		ISO	RGD:1604528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560016	Vps37a	VPS37A subunit of ESCRT-I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560016	Vps37a	VPS37A subunit of ESCRT-I	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560016	Vps37a	VPS37A subunit of ESCRT-I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:0050523	adult T-cell leukemia/lymphoma	disease_progression	ISO	RGD:1349179	D	RGD:11532670|PMID:27307595	20160902	RGD		mRNA:splice variants:CD4+ T cell:	
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1349179	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749|PMID:26829750
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma	disease_progression	ISO	RGD:1349179	D	RGD:11532669|PMID:21853052	20160902	RGD		mRNA:splice variants:cds:	
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:10534	stomach cancer		ISO	RGD:1349179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:2224	essential thrombocythemia		ISS	RGD:10933	D	RGD:13592920	20180518	MouseDO		OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521	
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:11532683|PMID:24828495	20160902	RGD		mRNA:increased expression:brain:	
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:2841	asthma		ISO	RGD:1349179	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19198610
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:3070	high grade glioma		ISO	RGD:1349179	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583981|PMID:26829751
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:4971	myelofibrosis		ISS	RGD:10933	D	RGD:13592920	20180518	MouseDO		OMIM:254450	
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1349179	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:17435759|PMID:28671688
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1349179	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: MYB-related condition	PMID:28492532
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:769	neuroblastoma		ISO	RGD:1349179	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34626302
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:9000918	Disease Progression		ISO	RGD:1349179	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34626302
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:9002514	Neointima	treatment	IMP		D	RGD:11532744|PMID:10438864	20160906	RGD			
1560020	Myb	MYB proto-oncogene, transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1603007	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:31209396
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:0060249	scoliosis		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:0080600	COVID-19		ISO	RGD:1603007	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:0111668	Kohlschutter-Tonz syndrome		ISO	RGD:1603007	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:0111668	Kohlschutter-Tonz syndrome		ISO	RGD:1603007	D	RGD:7240710	20141015	OMIM			
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:0111668	Kohlschutter-Tonz syndrome		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar Annotator: match by term: KOHLSCHUTTER-TONZ SYNDROME | ClinVar Annotator: match by term: Kohlschutter syndrome	PMID:16199547|PMID:17576681|PMID:22424600|PMID:22482807|PMID:23086778|PMID:24630287|PMID:25565929|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28638151|PMID:29153277|PMID:33528079|PMID:33866847|PMID:37228816|PMID:37974187|PMID:9536098
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:0111668	Kohlschutter-Tonz syndrome		ISS	RGD:1615906	D	RGD:13592920	20240201	MouseDO		OMIM:226750	
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:10534	stomach cancer		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17576681|PMID:22424600|PMID:25741868|PMID:28492532|PMID:28638151|PMID:37974187|PMID:9536098
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:1059	intellectual disability		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:16411202|PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:1059	intellectual disability		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:10907	microcephaly		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:1826	epilepsy		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:1909	melanoma		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:1603007	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation	PMID:12114483|PMID:17855048|PMID:25805166|PMID:27257017|PMID:28492532
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:2234	focal epilepsy		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:4362	cervical cancer		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:5041	esophageal cancer		ISO	RGD:1603007	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:630	genetic disease		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:9000343	Vision Disorders		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:28492532
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:9007661	Dwarfism		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560021	Rogdi	rogdi atypical leucine zipper	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1603007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:22424600|PMID:23086778|PMID:25741868|PMID:28492532
1560022	Kif26b	kinesin family member 26B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1560022	Kif26b	kinesin family member 26B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1560022	Kif26b	kinesin family member 26B	gene	DOID:10534	stomach cancer		ISO	RGD:1605983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1560022	Kif26b	kinesin family member 26B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560022	Kif26b	kinesin family member 26B	gene	DOID:1115	sarcoma		ISO	RGD:1605983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1560022	Kif26b	kinesin family member 26B	gene	DOID:1324	lung cancer		ISO	RGD:1605983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1560022	Kif26b	kinesin family member 26B	gene	DOID:1441	autosomal dominant cerebellar ataxia		ISO	RGD:1605983	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia	
1560022	Kif26b	kinesin family member 26B	gene	DOID:1909	melanoma		ISO	RGD:1605983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560022	Kif26b	kinesin family member 26B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1560022	Kif26b	kinesin family member 26B	gene	DOID:2394	ovarian cancer		ISO	RGD:1605983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1560022	Kif26b	kinesin family member 26B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560022	Kif26b	kinesin family member 26B	gene	DOID:4362	cervical cancer		ISO	RGD:1605983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1560022	Kif26b	kinesin family member 26B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560022	Kif26b	kinesin family member 26B	gene	DOID:5041	esophageal cancer		ISO	RGD:1605983	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560022	Kif26b	kinesin family member 26B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1560022	Kif26b	kinesin family member 26B	gene	DOID:6039	uveal melanoma		ISO	RGD:1605983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1560022	Kif26b	kinesin family member 26B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560022	Kif26b	kinesin family member 26B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560022	Kif26b	kinesin family member 26B	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1605983	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant	
1560022	Kif26b	kinesin family member 26B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1560022	Kif26b	kinesin family member 26B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605983	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1560022	Kif26b	kinesin family member 26B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560022	Kif26b	kinesin family member 26B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605983	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560022	Kif26b	kinesin family member 26B	gene	DOID:9256	colorectal cancer		ISO	RGD:1605983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560027	Elavl4	ELAV like RNA binding protein 4	gene	DOID:11446	sciatic neuropathy		IEP		D	RGD:1579851|PMID:12957493	20150102	RGD			
1560027	Elavl4	ELAV like RNA binding protein 4	gene	DOID:1459	hypothyroidism		IEP		D	RGD:1579855|PMID:12859688	20150102	RGD		mRNA,protein:increased expression:brain:	
1560027	Elavl4	ELAV like RNA binding protein 4	gene	DOID:1824	status epilepticus		IEP		D	RGD:9685310|PMID:17577668	20150102	RGD		mRNA:increased expression:hippocampus:	
1560027	Elavl4	ELAV like RNA binding protein 4	gene	DOID:1909	melanoma		ISO	RGD:1348119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560027	Elavl4	ELAV like RNA binding protein 4	gene	DOID:8927	learning disability		IEP		D	RGD:9685325|PMID:23545166	20150102	RGD			
1560027	Elavl4	ELAV like RNA binding protein 4	gene	DOID:9002189	High Myopia		ISO	RGD:1348119	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1560030	Vgll3	vestigial-like family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1602804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560030	Vgll3	vestigial-like family member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560030	Vgll3	vestigial-like family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560030	Vgll3	vestigial-like family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1601901	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1601901	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30487145|PMID:30609409|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:32581362|PMID:36460718
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:0110865	congenital stationary night blindness 1B		ISO	RGD:1601901	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness 1B	PMID:25741868
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:0110869	congenital stationary night blindness 1E		ISO	RGD:1601901	D	RGD:7240710	20140911	OMIM			
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:0110869	congenital stationary night blindness 1E		ISO	RGD:1601901	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness 1E | ClinVar Annotator: match by term: GPR179-related condition | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E	PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30487145|PMID:30609409|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:32581362|PMID:36460718
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:0110869	congenital stationary night blindness 1E		ISS	RGD:1623813	D	RGD:13592920	20230718	MouseDO		OMIM:614565	
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:11830	myopia		ISO	RGD:1601901	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30487145|PMID:30609409|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:32581362|PMID:36460718
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:1324	lung cancer		ISO	RGD:1601901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:1909	melanoma		ISO	RGD:1601901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:2841	asthma		ISO	RGD:1601901	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30487145|PMID:30609409|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:32581362|PMID:36460718
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:540	strabismus		ISO	RGD:1601901	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30487145|PMID:30609409|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:32581362|PMID:36460718
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:5679	retinal disease		ISO	RGD:1601901	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:28492532
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:5723	optic atrophy		ISO	RGD:1601901	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30487145|PMID:30609409|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:32581362|PMID:36460718
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:630	genetic disease		ISO	RGD:1601901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:8465	retinoschisis		ISO	RGD:1601901	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinoschisis	PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30487145|PMID:30609409|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:32581362|PMID:36460718
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:8466	retinal degeneration		ISO	RGD:1601901	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal degeneration	PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30487145|PMID:30609409|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:32581362|PMID:36460718
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:8499	night blindness		ISO	RGD:1601901	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Night blindness	PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30487145|PMID:30609409|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:32581362|PMID:36460718
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:8501	fundus dystrophy		ISO	RGD:1601901	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30487145|PMID:30609409|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32483926|PMID:32531858|PMID:32581362|PMID:33749171|PMID:36460718
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:9000386	Polyomavirus Infections		ISO	RGD:1601901	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:25463609
1560033	Gpr179	G protein-coupled receptor 179	gene	DOID:9002189	High Myopia		ISO	RGD:1601901	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30487145|PMID:30609409|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:32581362|PMID:36460718
1560034	C7h12orf42	similar to human chromosome 12 open reading frame 42	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560034	C7h12orf42	similar to human chromosome 12 open reading frame 42	gene	DOID:1909	melanoma		ISO	RGD:1606876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560034	C7h12orf42	similar to human chromosome 12 open reading frame 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560038	Tigar	TP53 induced glycolysis regulatory phosphatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560038	Tigar	TP53 induced glycolysis regulatory phosphatase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560038	Tigar	TP53 induced glycolysis regulatory phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560038	Tigar	TP53 induced glycolysis regulatory phosphatase	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1317526	D	RGD:11554173	20210601	CTD		CTD Direct Evidence: therapeutic	PMID:33359019
1560038	Tigar	TP53 induced glycolysis regulatory phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560038	Tigar	TP53 induced glycolysis regulatory phosphatase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:0070311	oligoasthenoteratozoospermia		ISS	RGD:1321482	D	RGD:13592920	20220210	MouseDO			
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321481	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1321481	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560041	Agfg1	ArfGAP with FG repeats 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1321481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1347407	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:10283	prostate cancer		ISO	RGD:1347407	D	RGD:155230826|PMID:32601196	20220922	RGD		mRNA:splice variant:exon 2: (human)	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1347407	D	RGD:155230826|PMID:32601196	20220922	RGD		mRNA:splice variant:exon 2: (human)	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347407	D	RGD:155230826|PMID:32601196	20220922	RGD		mRNA:splice variant:exon 2: (human)	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:1107	esophageal carcinoma	exacerbates	ISO	RGD:1347407	D	RGD:155630592|PMID:32831056	20221020	RGD		mRNA:decreased expression:espohagus (human)	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:1115	sarcoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:1612	breast cancer		ISO	RGD:1347407	D	RGD:155230826|PMID:32601196	20220922	RGD		mRNA:splice variant:exon 2: (human)	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:1612	breast cancer	exacerbates	ISO	RGD:1557151	D	RGD:155249848|PMID:21317887	20220923	RGD			
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:1909	melanoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:219	colon cancer		ISO	RGD:1347407	D	RGD:155230826|PMID:32601196	20220922	RGD		mRNA:splice variant:exon 2: (human)	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347407	D	RGD:155630593|PMID:18436711	20221020	RGD		human cell line and gene in a mouse model	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:2596	larynx cancer	ameliorates	ISO	RGD:1347407	D	RGD:155256869|PMID:32791689	20220923	RGD		mRNA:increased expression:larynx (human)	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:3275	thymoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:3905	lung carcinoma	exacerbates	ISO	RGD:1347407	D	RGD:11529413|PMID:27028764	20220923	RGD		DNA:missense mutation:CDS:p.E116K (human)	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1557151	D	RGD:155253742|PMID:31089135	20220923	RGD		mRNA:decreased expression:lung (human)	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:3908	lung non-small cell carcinoma	exacerbates	ISO	RGD:1557151	D	RGD:155249848|PMID:21317887	20220923	RGD			
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1347407	D	RGD:155230827|PMID:27861856	20220922	RGD		DNA:SNP:3' utr: (rs3679) (human)	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1347407	D	RGD:155230828|PMID:34236045	20220922	RGD		human gene in a mouse model	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:5419	schizophrenia		ISS	RGD:1557151	D	RGD:13592920	20180518	MouseDO		OMIM:181500	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:6000	congestive heart failure		ISO	RGD:1347407	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21284947
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:769	neuroblastoma		ISO	RGD:1347407	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROBLASTOMA	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:8634	prostate carcinoma in situ	disease_progression	ISO	RGD:1347407	D	RGD:2293334|PMID:17577251	20080711	RGD			
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:9000784	Fibrosis		ISO	RGD:1347407	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21284947
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347407	D	RGD:2293334|PMID:17577251	20080527	RGD			
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:1557151	D	RGD:2293337|PMID:16322247	20080528	RGD		expression of the mouse gene inhibits metastatic colonization of secondary sites by cancer cells in the AT6.1 model system	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:9002762	Ovarian Neoplasms	no_association	ISO	RGD:1557151	D	RGD:2293338|PMID:16489030	20080528	RGD		expression of the mouse gene has no effect on metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1347407	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1347407	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:9006618	Liver Metastasis		ISO	RGD:1347407	D	RGD:155259116|PMID:24533778	20220923	RGD		associated with colon cancer;protein:increased expression:colon (human)	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1347407	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
1560043	Map2k7	mitogen activated protein kinase kinase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:0050562	West syndrome		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:28492532
1560047	Ranbp2	RAN binding protein 2	gene	DOID:0050905	inflammatory myofibroblastic tumor		ISO	RGD:1351414	D	RGD:9999211|PMID:12661011	20150414	RGD		DNA:translocations:intron: (human)	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:0060058	lymphoma		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:0080855	Parkinsonism	severity	ISO	RGD:1558482	D	RGD:9835348|PMID:22821000	20150318	RGD			
1560047	Ranbp2	RAN binding protein 2	gene	DOID:0110682	congenital myasthenic syndrome 16		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 16	PMID:25741868
1560047	Ranbp2	RAN binding protein 2	gene	DOID:0110922	familial hemophagocytic lymphohistiocytosis 2		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2	PMID:19118815|PMID:19811512|PMID:21205700|PMID:25741868|PMID:28492532|PMID:37090838|PMID:39710814
1560047	Ranbp2	RAN binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
1560047	Ranbp2	RAN binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:12336	male infertility		ISO	RGD:1558482	D	RGD:9835350|PMID:21310149	20150318	RGD			
1560047	Ranbp2	RAN binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
1560047	Ranbp2	RAN binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1560047	Ranbp2	RAN binding protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1560047	Ranbp2	RAN binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1351414	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant	PMID:16435307|PMID:18065779|PMID:18561327|PMID:18704500|PMID:18816645|PMID:23210707|PMID:24033266|PMID:25741868|PMID:28492532
1560047	Ranbp2	RAN binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1560047	Ranbp2	RAN binding protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:4194	glucose metabolism disease		ISO	RGD:1558482	D	RGD:9835347|PMID:17069463	20150318	RGD			
1560047	Ranbp2	RAN binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1560047	Ranbp2	RAN binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351414	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1560047	Ranbp2	RAN binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1560047	Ranbp2	RAN binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:11580307|RGD:13435955|RGD:156025595|RGD:156083179|RGD:156142901|RGD:156215923|RGD:156253058|RGD:156264331|RGD:156268641|RGD:156289052|RGD:156303909|RGD:156341021|RGD:329382642|RGD:329386251|RGD:401749934|RGD:405767101|RGD:405767108|RGD:405767112|RGD:407478680|RGD:407478689|RGD:40888067|RGD:597666392|RGD:597666398|RGD:597666403|RGD:597666408|RGD:597666414|RGD:597666418|RGD:597666423|RGD:597666429|RGD:597666434|RGD:598165765|RGD:598165770	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:9003471	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3		ISO	RGD:1351414	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: RANBP2-related condition	PMID:19118815|PMID:22030434|PMID:25741868|PMID:28492532|PMID:29593631
1560047	Ranbp2	RAN binding protein 2	gene	DOID:9003471	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3	susceptibility	ISO	RGD:1351414	D	RGD:7240710	20190502	OMIM			
1560047	Ranbp2	RAN binding protein 2	gene	DOID:9003471	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3	susceptibility	ISO	RGD:1351414	D	RGD:9835035|PMID:19118815	20150317	RGD		DNA:missense mutation:cds:p.T585M (human)	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:9004794	Plasma Cell Granuloma		ISO	RGD:1351414	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21030459
1560047	Ranbp2	RAN binding protein 2	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868
1560047	Ranbp2	RAN binding protein 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1560047	Ranbp2	RAN binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1560047	Ranbp2	RAN binding protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1560047	Ranbp2	RAN binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1560047	Ranbp2	RAN binding protein 2	gene	DOID:9538	multiple myeloma		ISO	RGD:1351414	D	RGD:9835349|PMID:19171422	20150318	RGD		mRNA:increased expression:bone marrow, plasma cell (human)	
1560047	Ranbp2	RAN binding protein 2	gene	DOID:9993	hypoglycemia		ISO	RGD:1351414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:28492532
1560048	Lair1	leukocyte-associated immunoglobulin-like receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560048	Lair1	leukocyte-associated immunoglobulin-like receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560048	Lair1	leukocyte-associated immunoglobulin-like receptor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1344054	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560048	Lair1	leukocyte-associated immunoglobulin-like receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560048	Lair1	leukocyte-associated immunoglobulin-like receptor 1	gene	DOID:1909	melanoma		ISO	RGD:1344054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560048	Lair1	leukocyte-associated immunoglobulin-like receptor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560048	Lair1	leukocyte-associated immunoglobulin-like receptor 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1344054	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
1560048	Lair1	leukocyte-associated immunoglobulin-like receptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560048	Lair1	leukocyte-associated immunoglobulin-like receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560048	Lair1	leukocyte-associated immunoglobulin-like receptor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560048	Lair1	leukocyte-associated immunoglobulin-like receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560049	Dusp3	dual specificity phosphatase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560049	Dusp3	dual specificity phosphatase 3	gene	DOID:1324	lung cancer		ISO	RGD:1345861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560049	Dusp3	dual specificity phosphatase 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1345861	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427
1560049	Dusp3	dual specificity phosphatase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560049	Dusp3	dual specificity phosphatase 3	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2	PMID:38922859
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1348910	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse large B cell lymphoma	PMID:16492805|PMID:21156281|PMID:21156282|PMID:25741868|PMID:26769062|PMID:28492532|PMID:32619424|PMID:32932517
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:0060058	lymphoma		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:0060260	ptosis		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:28492532
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:0070071	autosomal dominant intellectual developmental disorder 41		ISO	RGD:1348910	D	RGD:7240710	20190315	OMIM			
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:0070071	autosomal dominant intellectual developmental disorder 41		ISO	RGD:1348910	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 41 | ClinVar Annotator: match by term: TBL1XR1-related condition | ClinVar Annotator: match by term: TBL1XR1-related disorder	PMID:16492805|PMID:21156281|PMID:21156282|PMID:25102098|PMID:25741868|PMID:26467025|PMID:26769062|PMID:27221108|PMID:28492532|PMID:28588275|PMID:30365874|PMID:30544257|PMID:32619424|PMID:32932517|PMID:33527360
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:0081362	Pierpont syndrome		ISO	RGD:1348910	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:0081362	Pierpont syndrome		ISO	RGD:1348910	D	RGD:7240710	20190315	OMIM			
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:0081362	Pierpont syndrome		ISO	RGD:1348910	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: PIERPONT SYNDROME | ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome	PMID:16492805|PMID:17576681|PMID:18414213|PMID:21156281|PMID:21156282|PMID:23160955|PMID:25102098|PMID:25741868|PMID:26467025|PMID:26740553|PMID:26769062|PMID:27129164|PMID:27824329|PMID:28492532|PMID:28574232|PMID:30577886|PMID:31394400|PMID:31618753|PMID:32619424|PMID:32932517|PMID:36703223|PMID:38378692|PMID:9536098
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:0081362	Pierpont syndrome		ISS	RGD:1558421	D	RGD:13592920	20231102	MouseDO		OMIM:602342	
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:1059	intellectual disability		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:1143	exotropia		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:26769062
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:11830	myopia		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:26769062
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:12700	hyperprolactinemia		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperprolactinemia	PMID:26769062
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:12849	autistic disorder		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:13929	lacrimal duct obstruction		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasolacrimal duct obstruction	PMID:26769062
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1348910	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:1826	epilepsy		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:28492532
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:1909	melanoma		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:26769062
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:3275	thymoma		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:630	genetic disease		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16893456|PMID:25102098|PMID:25741868|PMID:26467025|PMID:26740553|PMID:26769062|PMID:28492532|PMID:35101336
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9000660	Choristoma		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectopic tissue	PMID:35101336
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1348910	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:26769062
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348910	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:35101336
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:26769062
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:28492532
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9007617	Conotruncal Cardiac Defects		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Conotruncal heart malformations	
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:26769062
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9008675	Dyskinesias		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: dyskinesia	PMID:33527360
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:26769062
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560053	Tbl1xr1	TBL1X/Y related 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:28492532
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0050735	X-linked monogenic disease		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked inheritance	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0060058	lymphoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:24607389|PMID:24690944|PMID:25763846|PMID:26833328|PMID:28688840
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0060249	scoliosis		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0060260	ptosis		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0060320	inguinal hernia		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:28492532|PMID:36939041
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0080012	X-linked recessive disease		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked recessive inheritance	PMID:25741868|PMID:28492532
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0080832	mild cognitive impairment		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: mild cognitive impairment	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0081337	congenital myopathy		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0112025	female-restricted syndromic X-linked intellectual disability 99		ISO	RGD:1606030	D	RGD:7240710	20190315	OMIM			
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0112025	female-restricted syndromic X-linked intellectual disability 99		ISO	RGD:1606030	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted | ClinVar Annotator: match by term: USP9X-related condition	PMID:16005295|PMID:16757948|PMID:17352659|PMID:24607389|PMID:25741868|PMID:25763846|PMID:26833328|PMID:27501351|PMID:28377321|PMID:28492532|PMID:31443933|PMID:33298948|PMID:34008892|PMID:35227307|PMID:35253988|PMID:35982159|PMID:36939041|PMID:38438125
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0112026	non-syndromic X-linked intellectual disability 99		ISO	RGD:1606030	D	RGD:7240710	20150708	OMIM			
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:0112026	non-syndromic X-linked intellectual disability 99		ISO	RGD:1606030	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 99 | ClinVar Annotator: match by term: USP9X-related disorder | ClinVar Annotator: match by term: USP9X-related neurodevelopmental disorder	PMID:25741868|PMID:26833328|PMID:28377321|PMID:28492532|PMID:31443933|PMID:33298948|PMID:35982159|PMID:36939041
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency	PMID:25741868|PMID:28492532
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1606030	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency	PMID:25741868|PMID:26833328|PMID:28377321|PMID:28492532|PMID:35982159
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1606030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disability	PMID:24607389|PMID:25741868|PMID:26833328|PMID:28377321|PMID:28492532|PMID:35982159
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:10892	hypospadias		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868|PMID:33298948
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:10907	microcephaly		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:10908	hydrocephalus		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:1115	sarcoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:11383	cryptorchidism		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:28492532|PMID:33298948|PMID:36939041
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1606030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:24607389|PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:11782	astigmatism		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:11830	myopia		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:12215	oligohydramnios		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28492532|PMID:36939041
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:1283	enterocele		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:25741868|PMID:33298948
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:12849	autistic disorder		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:1324	lung cancer		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:1657	ventricular septal defect		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:1826	epilepsy		ISO	RGD:1606030	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:1909	melanoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:2975	cystic kidney disease		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:3070	high grade glioma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:3275	thymoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:4362	cervical cancer		ISO	RGD:1606030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:5041	esophageal cancer		ISO	RGD:1606030	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:540	strabismus		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:6132	bronchitis		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchitis	PMID:25741868|PMID:28492532|PMID:36939041
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:630	genetic disease		ISO	RGD:1606030	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24607389|PMID:24690944|PMID:25741868|PMID:25763846|PMID:26833328|PMID:28377321|PMID:28492532|PMID:28688840|PMID:31443933|PMID:33023636|PMID:35982159
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:784	chronic kidney disease		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9000323	Biventricular Hypertrophy		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Biventricular hypertrophy	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9001740	Blue Nevus		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blue nevus	PMID:25741868|PMID:28492532|PMID:36939041
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arnold-Chiari type I malformation	PMID:28492532
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9003133	Hypertelorism		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9003507	Premature Birth		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532|PMID:36939041
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532|PMID:36939041
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606030	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9005077	Joint Instability		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:24607389|PMID:25741868|PMID:28492532|PMID:36939041
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868|PMID:33298948
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9007661	Dwarfism		ISO	RGD:1606030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24607389|PMID:25741868|PMID:28492532
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9008023	Memory Disorders		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24607389|PMID:25741868|PMID:28492532|PMID:33298948|PMID:36939041
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:25741868|PMID:28492532|PMID:36939041
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9008582	Developmental Disease		ISO	RGD:1606030	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
1560056	Usp9x	ubiquitin specific peptidase 9, X-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560062	Lama4	laminin subunit alpha 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560062	Lama4	laminin subunit alpha 4	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy	PMID:25741868|PMID:28492532
1560062	Lama4	laminin subunit alpha 4	gene	DOID:0050650	familial atrial fibrillation		ISO	RGD:1320894	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Familial atrial fibrillation	PMID:25741868|PMID:28492532
1560062	Lama4	laminin subunit alpha 4	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:17576681|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221|PMID:35087879|PMID:38473809|PMID:9536098
1560062	Lama4	laminin subunit alpha 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560062	Lama4	laminin subunit alpha 4	gene	DOID:0070201	Miyoshi muscular dystrophy 3		ISO	RGD:1320894	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Miyoshi myopathy 3	PMID:25326637|PMID:25741868|PMID:28492532
1560062	Lama4	laminin subunit alpha 4	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31333075|PMID:31568572
1560062	Lama4	laminin subunit alpha 4	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1320894	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572
1560062	Lama4	laminin subunit alpha 4	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1320894	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31333075|PMID:31568572
1560062	Lama4	laminin subunit alpha 4	gene	DOID:0110438	dilated cardiomyopathy 1JJ		ISO	RGD:1320894	D	RGD:7240710	20140911	OMIM			
1560062	Lama4	laminin subunit alpha 4	gene	DOID:0110438	dilated cardiomyopathy 1JJ		ISO	RGD:1320894	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1JJ | ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ | ClinVar Annotator: match by term: LAMA4-related condition	PMID:16199547|PMID:16204254|PMID:17576681|PMID:17646580|PMID:23274168|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28750076|PMID:29016939|PMID:29247119|PMID:30086531|PMID:30165862|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31514951|PMID:31527676|PMID:31534214|PMID:31568572|PMID:31983221|PMID:32746448|PMID:32880476|PMID:33874732|PMID:35087879|PMID:35947370|PMID:36252119|PMID:38473809|PMID:9536098
1560062	Lama4	laminin subunit alpha 4	gene	DOID:0110461	dilated cardiomyopathy 3B		ISO	RGD:1320894	D	RGD:8554872	20240903	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 3B	PMID:25741868
1560062	Lama4	laminin subunit alpha 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1560062	Lama4	laminin subunit alpha 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560062	Lama4	laminin subunit alpha 4	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
1560062	Lama4	laminin subunit alpha 4	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
1560062	Lama4	laminin subunit alpha 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572
1560062	Lama4	laminin subunit alpha 4	gene	DOID:1324	lung cancer		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:35087879|PMID:38473809|PMID:9536098
1560062	Lama4	laminin subunit alpha 4	gene	DOID:1909	melanoma		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560062	Lama4	laminin subunit alpha 4	gene	DOID:219	colon cancer		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1560062	Lama4	laminin subunit alpha 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1560062	Lama4	laminin subunit alpha 4	gene	DOID:2843	long QT syndrome		ISO	RGD:1320894	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868|PMID:28492532
1560062	Lama4	laminin subunit alpha 4	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1320894	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:23861362|PMID:28492532|PMID:30847666
1560062	Lama4	laminin subunit alpha 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320894	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560062	Lama4	laminin subunit alpha 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1320894	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560062	Lama4	laminin subunit alpha 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560062	Lama4	laminin subunit alpha 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560062	Lama4	laminin subunit alpha 4	gene	DOID:630	genetic disease		ISO	RGD:1320894	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1560062	Lama4	laminin subunit alpha 4	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1320894	D	RGD:8554872	20180109	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:28492532
1560062	Lama4	laminin subunit alpha 4	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1320894	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1560062	Lama4	laminin subunit alpha 4	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1320894	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:17576681|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098
1560062	Lama4	laminin subunit alpha 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560062	Lama4	laminin subunit alpha 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
1560062	Lama4	laminin subunit alpha 4	gene	DOID:9834	hyperopia		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1560062	Lama4	laminin subunit alpha 4	gene	DOID:9997	peripartum cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripartum cardiomyopathy	PMID:25741868|PMID:28492532
1560065	C2h1orf52	similar to human chromosome 1 open reading frame 52	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346419	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560066	Arfgap3	ARF GTPase activating protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560066	Arfgap3	ARF GTPase activating protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560066	Arfgap3	ARF GTPase activating protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560066	Arfgap3	ARF GTPase activating protein 3	gene	DOID:1909	melanoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560066	Arfgap3	ARF GTPase activating protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344539	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560066	Arfgap3	ARF GTPase activating protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560066	Arfgap3	ARF GTPase activating protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560066	Arfgap3	ARF GTPase activating protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560066	Arfgap3	ARF GTPase activating protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560066	Arfgap3	ARF GTPase activating protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560066	Arfgap3	ARF GTPase activating protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1560066	Arfgap3	ARF GTPase activating protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560066	Arfgap3	ARF GTPase activating protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560066	Arfgap3	ARF GTPase activating protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560070	Rbfox3	RNA binding fox-1 homolog 3	gene	DOID:3454	brain infarction		IEP		D	RGD:155630606|PMID:12161747	20221025	RGD		protein:altered expression:brain (rat)	
1560070	Rbfox3	RNA binding fox-1 homolog 3	gene	DOID:3525	middle cerebral artery infarction	treatment	IEP		D	RGD:329849008|PMID:30531687	20230609	RGD			
1560070	Rbfox3	RNA binding fox-1 homolog 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560070	Rbfox3	RNA binding fox-1 homolog 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603898	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560070	Rbfox3	RNA binding fox-1 homolog 3	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:1603898	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1560077	Lmntd1	lamin tail domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560077	Lmntd1	lamin tail domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560077	Lmntd1	lamin tail domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560077	Lmntd1	lamin tail domain containing 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1602644	D	RGD:11554173	20170214	CTD		CTD Direct Evidence: marker/mechanism	PMID:15064703
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pachygyria	PMID:25741868
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:0050468	yellow nail syndrome		ISO	RGD:1354258	D	RGD:11554173	20251104	CTD		CTD Direct Evidence: marker/mechanism	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:0050468	yellow nail syndrome		ISO	RGD:1354258	D	RGD:7240710	20251029	OMIM			
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:0050468	yellow nail syndrome		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: YELLOW NAIL SYNDROME | ClinVar Annotator: match by term: Yellow nail syndrome	PMID:25741868|PMID:39715557
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1354258	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:25741868
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:0050580	hereditary lymphedema		ISO	RGD:1354258	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary lymphedema	PMID:25741868
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ASD	PMID:25741868
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:11294	arteriovenous malformation		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arteriovenous malformation	PMID:25741868
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:1826	epilepsy		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:1909	melanoma		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1354258	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:3275	thymoma		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:4977	lymphedema		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:25741868
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	PMID:25741868
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:9009156	Lymphatic Malformation 9		ISO	RGD:1354258	D	RGD:7240710	20210526	OMIM			
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:9009156	Lymphatic Malformation 9		ISO	RGD:1354258	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CELSR1-related condition | ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 9 | ClinVar Annotator: match by term: Lymphatic malformation 9	PMID:25741868|PMID:28492532
1560078	Celsr1	cadherin, EGF LAG seven-pass G-type receptor 1	gene	DOID:9009338	early-onset epilepsy		ISO	RGD:1354258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, early-onset	PMID:25741868
1560083	Myo3a	myosin IIIA	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:24033266|PMID:25741868
1560083	Myo3a	myosin IIIA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560083	Myo3a	myosin IIIA	gene	DOID:0070607	autosomal dominant nonsyndromic deafness 90		ISO	RGD:1349635	D	RGD:7240710	20240221	OMIM			
1560083	Myo3a	myosin IIIA	gene	DOID:0070607	autosomal dominant nonsyndromic deafness 90		ISO	RGD:1349635	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 90 | ClinVar Annotator: match by term: Deafness, autosomal dominant 90	PMID:25741868
1560083	Myo3a	myosin IIIA	gene	DOID:0110489	autosomal recessive nonsyndromic deafness 30		ISO	RGD:1349635	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560083	Myo3a	myosin IIIA	gene	DOID:0110489	autosomal recessive nonsyndromic deafness 30		ISO	RGD:1349635	D	RGD:7240710	20130221	OMIM			
1560083	Myo3a	myosin IIIA	gene	DOID:0110489	autosomal recessive nonsyndromic deafness 30		ISO	RGD:1349635	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 30 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 30 | ClinVar Annotator: match by term: Deafness, autosomal recessive 30 | ClinVar Annotator: match by term: MYO3A-related condition	PMID:12032315|PMID:16199547|PMID:17344846|PMID:17576681|PMID:23967202|PMID:23990876|PMID:24033266|PMID:24214986|PMID:25741868|PMID:26046366|PMID:26166082|PMID:26467025|PMID:26841241|PMID:27068579|PMID:28492532|PMID:29880844|PMID:30245029|PMID:30311386|PMID:31589614|PMID:35114279|PMID:38562617|PMID:39858639|PMID:9536098
1560083	Myo3a	myosin IIIA	gene	DOID:0110489	autosomal recessive nonsyndromic deafness 30		ISS	RGD:1557290	D	RGD:13592920	20230718	MouseDO		OMIM:607101	
1560083	Myo3a	myosin IIIA	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1349635	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:12032315|PMID:23990876|PMID:25741868|PMID:28492532|PMID:32006683|PMID:32747562
1560083	Myo3a	myosin IIIA	gene	DOID:10534	stomach cancer		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560083	Myo3a	myosin IIIA	gene	DOID:1115	sarcoma		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560083	Myo3a	myosin IIIA	gene	DOID:1909	melanoma		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560083	Myo3a	myosin IIIA	gene	DOID:2030	anxiety disorder		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1560083	Myo3a	myosin IIIA	gene	DOID:3275	thymoma		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868
1560083	Myo3a	myosin IIIA	gene	DOID:4362	cervical cancer		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560083	Myo3a	myosin IIIA	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868
1560083	Myo3a	myosin IIIA	gene	DOID:5041	esophageal cancer		ISO	RGD:1349635	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868
1560083	Myo3a	myosin IIIA	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1560083	Myo3a	myosin IIIA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560083	Myo3a	myosin IIIA	gene	DOID:630	genetic disease		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386
1560083	Myo3a	myosin IIIA	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1560083	Myo3a	myosin IIIA	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: hearing impairment | ClinVar Annotator: match by term: hearing loss	PMID:28492532|PMID:30311386
1560083	Myo3a	myosin IIIA	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	
1560083	Myo3a	myosin IIIA	gene	DOID:9006380	Bilateral Hearing Loss		ISO	RGD:1349635	D	RGD:1600555|PMID:12032315	20070314	RGD		DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X	
1560083	Myo3a	myosin IIIA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560083	Myo3a	myosin IIIA	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss		ISO	RGD:1349635	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss	PMID:25741868|PMID:29880844|PMID:33953343|PMID:34788109|PMID:35580552
1560083	Myo3a	myosin IIIA	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1560083	Myo3a	myosin IIIA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560083	Myo3a	myosin IIIA	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560090	Rergl	RERG like	gene	DOID:10283	prostate cancer		ISO	RGD:1602860	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1560090	Rergl	RERG like	gene	DOID:10283	prostate cancer		ISO	RGD:1602860	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1560090	Rergl	RERG like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560090	Rergl	RERG like	gene	DOID:3275	thymoma		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560090	Rergl	RERG like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560090	Rergl	RERG like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560090	Rergl	RERG like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560102	Map6d1	MAP6 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560102	Map6d1	MAP6 domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560102	Map6d1	MAP6 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602463	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560103	Helb	DNA helicase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560103	Helb	DNA helicase B	gene	DOID:1115	sarcoma		ISO	RGD:1344471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560103	Helb	DNA helicase B	gene	DOID:1324	lung cancer		ISO	RGD:1344471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560103	Helb	DNA helicase B	gene	DOID:1909	melanoma		ISO	RGD:1344471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560103	Helb	DNA helicase B	gene	DOID:3275	thymoma		ISO	RGD:1344471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560103	Helb	DNA helicase B	gene	DOID:5041	esophageal cancer		ISO	RGD:1344471	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560103	Helb	DNA helicase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560103	Helb	DNA helicase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560108	Zfta	zinc finger translocation associated	gene	DOID:10534	stomach cancer		ISO	RGD:2910589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560108	Zfta	zinc finger translocation associated	gene	DOID:4362	cervical cancer		ISO	RGD:2910589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560113	Hoxb4	homeo box B4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0050567	orofacial cleft		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0060249	scoliosis		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:24470203
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0080196	mandibulofacial dysostosis, Guion-Almeida type		ISO	RGD:1606577	D	RGD:10045557|PMID:22305528	20150610	RGD		DNA:mutations:multiple (human)	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0080196	mandibulofacial dysostosis, Guion-Almeida type		ISO	RGD:1606577	D	RGD:7240710	20141015	OMIM			
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:0080196	mandibulofacial dysostosis, Guion-Almeida type		ISO	RGD:1606577	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: EFTUD2-related condition | ClinVar Annotator: match by term: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | ClinVar Annotator: match by term: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE | ClinVar Annotator: match by term: Mandibulofacial dysostosis, Guion-Almeida type | ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome	PMID:16199547|PMID:16760738|PMID:17576681|PMID:22305528|PMID:23188108|PMID:23239648|PMID:23879989|PMID:24470203|PMID:24999515|PMID:25326637|PMID:25387991|PMID:2573526|PMID:25741868|PMID:26507355|PMID:28492532|PMID:28643921|PMID:32333448|PMID:32408545|PMID:32410215|PMID:32799722|PMID:33247512|PMID:34218205|PMID:34693919|PMID:36135330|PMID:37236975|PMID:38041506|PMID:9536098
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:10485	esophageal atresia		ISO	RGD:1606577	D	RGD:10045556|PMID:23188108	20150827	RGD		DNA:mutations:multiple (human)	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:10485	esophageal atresia		ISO	RGD:1606577	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:10907	microcephaly		ISO	RGD:1606577	D	RGD:155791662|PMID:24470203	20230104	RGD		associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:10907	microcephaly		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:24470203|PMID:25741868|PMID:37236975
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:13620	patent foramen ovale		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic seizures | ClinVar Annotator: match by term: Seizure	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:1606577	D	RGD:155791665|PMID:34436958	20230104	RGD			
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:219	colon cancer	ameliorates	ISO	RGD:1557328	D	RGD:155791667|PMID:31278373	20230104	RGD		associated with colitis;	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606577	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:24470203|PMID:25741868|PMID:25954003|PMID:26507355|PMID:27618451|PMID:28490743|PMID:28492532|PMID:32408545|PMID:33247512|PMID:37236975|PMID:9536098
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:674	cleft palate		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1606577	D	RGD:155791664|PMID:34282556	20230104	RGD			
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1606577	D	RGD:155791664|PMID:34282556	20230104	RGD			
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:8488	polyhydramnios		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:24470203|PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vocal cord paralysis	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9001031	Retrognathia		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24470203
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1606577	D	RGD:155791666|PMID:32447180	20230104	RGD		protein:increased expression:trophoblast, decidua:	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:37236975
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606577	D	RGD:155791662|PMID:24470203	20230104	RGD		associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9005147	Hydatidiform Mole		ISO	RGD:1606577	D	RGD:155791666|PMID:32447180	20230104	RGD		protein:increased expression:trophoblast, decidua:	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:26507355
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9007388	Heterochromia Iridis		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heterochromia iridis	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9007892	Tics		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9008003	Mandibulofacial Dysostosis		ISO	RGD:1606577	D	RGD:10045556|PMID:23188108	20150610	RGD		DNA:mutations:multiple (human)	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9008003	Mandibulofacial Dysostosis		ISO	RGD:1606577	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Mandibulofacial dysostosis	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606577	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24999515|PMID:25741868|PMID:25741880|PMID:26507355|PMID:28492532
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9008189	Pyelectasis		ISO	RGD:1606577	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: pyelectasis	PMID:32641753
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	PMID:25741868
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560116	Eftud2	elongation factor Tu GTP binding domain containing 2	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1606577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1353739	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:1115	sarcoma		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:11782	astigmatism		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:11830	myopia		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1353739	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868|PMID:28492532
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:3275	thymoma		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:4481	allergic rhinitis		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:25741868
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1353739	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:5679	retinal disease		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:23818446|PMID:24874986|PMID:25741868|PMID:28492532
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:630	genetic disease		ISO	RGD:1353739	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32483926
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:630	genetic disease		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:8501	fundus dystrophy		ISO	RGD:1353739	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532|PMID:32483926
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:9000789	Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus		ISO	RGD:1353739	D	RGD:7240710	20140911	OMIM			
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:9000789	Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus		ISO	RGD:1353739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADAMTS18-related condition | ClinVar Annotator: match by term: MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS | ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus	PMID:23818446|PMID:24874986|PMID:25741868|PMID:28492532
1560118	Adamts18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560122	Wdr88	WD repeat domain 88	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560122	Wdr88	WD repeat domain 88	gene	DOID:1115	sarcoma		ISO	RGD:1606735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560122	Wdr88	WD repeat domain 88	gene	DOID:3070	high grade glioma		ISO	RGD:1606735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560122	Wdr88	WD repeat domain 88	gene	DOID:4362	cervical cancer		ISO	RGD:1606735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560122	Wdr88	WD repeat domain 88	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560122	Wdr88	WD repeat domain 88	gene	DOID:6039	uveal melanoma		ISO	RGD:1606735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1560122	Wdr88	WD repeat domain 88	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560122	Wdr88	WD repeat domain 88	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1345791	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:11839626|PMID:15140536|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22584458|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25741879|PMID:25998140|PMID:26743238|PMID:27435932|PMID:27930701|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:29247119|PMID:29714131|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31737537|PMID:31980526|PMID:32695137|PMID:38962240|PMID:39481677
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1345791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:11839626|PMID:16199547|PMID:17576681|PMID:17967976|PMID:17967977|PMID:19666841|PMID:19745168|PMID:20724705|PMID:22995991|PMID:23414114|PMID:23861362|PMID:24033266|PMID:25741868|PMID:25741879|PMID:26743238|PMID:27435932|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:29247119|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31980526|PMID:32695137|PMID:38962240|PMID:9536098
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345791	D	RGD:8554872	20200407	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:23861362|PMID:25741868|PMID:28492532
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:0110219	Brugada syndrome 2		ISO	RGD:1345791	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:0110219	Brugada syndrome 2		ISO	RGD:1345791	D	RGD:7240710	20130425	OMIM			
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:0110219	Brugada syndrome 2		ISO	RGD:1345791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRUGADA SYNDROME 2 | ClinVar Annotator: match by term: Brugada syndrome 2 | ClinVar Annotator: match by term: GPD1L-related condition	PMID:11839626|PMID:15140536|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25741879|PMID:25998140|PMID:26743238|PMID:27435932|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31980526|PMID:32695137|PMID:38962240
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:1115	sarcoma		ISO	RGD:1345791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1345791	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28492532
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:1324	lung cancer		ISO	RGD:1345791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:1909	melanoma		ISO	RGD:1345791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:2843	long QT syndrome		ISO	RGD:1345791	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:11839626|PMID:15140536|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:26743238|PMID:27435932|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:31618753|PMID:32695137
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:2843	long QT syndrome		ISO	RGD:1345791	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:11839626|PMID:15140536|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25741879|PMID:25998140|PMID:26743238|PMID:27435932|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:31618753|PMID:32695137|PMID:38962240|PMID:39481677
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:2843	long QT syndrome		ISO	RGD:1345791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:11839626|PMID:17967977|PMID:19666841|PMID:19745168|PMID:20724705|PMID:22995991|PMID:23414114|PMID:24033266|PMID:25741868|PMID:25741879|PMID:26743238|PMID:27435932|PMID:28008009|PMID:28492532|PMID:28798025|PMID:31618753|PMID:32695137|PMID:38962240
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:3275	thymoma		ISO	RGD:1345791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1345791	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1345791	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:5419	schizophrenia		ISO	RGD:1345791	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:9002919	Sudden Unexpected Nocturnal Death Syndrome		ISO	RGD:1345791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome	PMID:11839626|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19666841|PMID:19745168|PMID:20724705|PMID:22995991|PMID:23414114|PMID:23861362|PMID:24033266|PMID:25741868|PMID:25741879|PMID:26743238|PMID:27435932|PMID:28008009|PMID:28492532|PMID:28798025|PMID:29077258|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31980526|PMID:32695137|PMID:38962240
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:9006030	Infant Death		ISO	RGD:1345791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Death in infancy	PMID:11839626|PMID:17967977|PMID:19666841|PMID:19745168|PMID:20724705|PMID:22995991|PMID:23414114|PMID:24033266|PMID:25741868|PMID:25741879|PMID:26743238|PMID:27435932|PMID:28008009|PMID:28492532|PMID:28798025|PMID:31618753|PMID:32695137|PMID:38962240
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:1345791	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Sudden cardiac death	PMID:23861362|PMID:25741868|PMID:27930701|PMID:28492532
1560123	Gpd1l	glycerol-3-phosphate dehydrogenase 1 like	gene	DOID:9452	steatotic liver disease		ISO	RGD:1345791	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1560129	Pabir2	PABIR family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560129	Pabir2	PABIR family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560129	Pabir2	PABIR family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605855	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560129	Pabir2	PABIR family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560129	Pabir2	PABIR family member 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560129	Pabir2	PABIR family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560129	Pabir2	PABIR family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560129	Pabir2	PABIR family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:15364249|PMID:16969763|PMID:17576681|PMID:22888088|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31054281|PMID:33576794|PMID:35432464|PMID:36445968|PMID:9536098
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1352855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:11992260|PMID:14564670|PMID:15364249|PMID:16055928|PMID:16969763|PMID:17576681|PMID:22264887|PMID:22888088|PMID:23372056|PMID:25741868|PMID:26093275|PMID:28492532|PMID:28559085|PMID:28863407|PMID:30718709|PMID:31054281|PMID:31953110|PMID:32702353|PMID:33090715|PMID:33576794|PMID:34906470|PMID:34985506|PMID:35432464|PMID:36445968|PMID:9536098
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0050795	cone dystrophy		ISO	RGD:1352855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cone dystrophy	PMID:11875055|PMID:22264887|PMID:25741868|PMID:28492532|PMID:29785639
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110413	retinitis pigmentosa 6		ISO	RGD:1352855	D	RGD:8554872	20200609	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 6	PMID:25741868
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:7240710	20130425	OMIM			
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:8553196|PMID:12123547	20140507	RGD		DNA:deletion, nonsense mutation:exons:c.1536delC, p.E332X (human)	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:8553198|PMID:17893654	20140507	RGD		DNA:frameshift mutation:exon:c.2919delA (human)	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:8553206|PMID:10094550	20140507	RGD		DNA:transversion:intron:IVS5+1G>T (human)	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:8553208|PMID:9855162	20140507	RGD		DNA:missense mutation:exon:p.G60V (human)	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:8553210|PMID:9331262	20140507	RGD		DNA:nonsense mutation:exon:p.G52X (human)	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:8553228|PMID:12859409	20140508	RGD		DNA:deletion:exon:g.48061-48064delAAGT (human)	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:8553229|PMID:18361418	20140507	RGD		DNA:mutations:multiple (human)	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:8553233|PMID:20021257	20140508	RGD		DNA:deletions:exon:p.E746RfsX768, p.E802GfsX833, p.T801TfsX813 (human)	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN | ClinVar Annotator: match by term: Choroidoretinal degeneration with retinal reflex in heterozygous women | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 3	PMID:10932196|PMID:10937588|PMID:11754050|PMID:11992260|PMID:12657579|PMID:14564670|PMID:15364249|PMID:16055928|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17576681|PMID:17923551|PMID:19429592|PMID:19815619|PMID:20631154|PMID:21326217|PMID:21857984|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:24033266|PMID:25356976|PMID:25741868|PMID:25741869|PMID:26093275|PMID:26143542|PMID:27620828|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:30543658|PMID:31054281|PMID:31645972|PMID:31953110|PMID:31960602|PMID:32036094|PMID:32679846|PMID:32702353|PMID:33090715|PMID:33355362|PMID:33546218|PMID:33576794|PMID:33620278|PMID:34745198|PMID:34828430|PMID:34906470|PMID:34985506|PMID:35166581|PMID:35432464|PMID:36259723|PMID:36276946|PMID:36284670|PMID:36445968|PMID:3646071|PMID:36460718|PMID:36996441|PMID:37107692|PMID:38117582|PMID:9326322|PMID:9399904|PMID:9536098|PMID:9855162
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1557212	D	RGD:8553202|PMID:22563472	20140507	RGD		DNA:duplication:exon:?-?+32dup (mouse)	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1557212	D	RGD:8553204|PMID:10725384	20140507	RGD			
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISS	RGD:1557212	D	RGD:13592920	20230718	MouseDO		OMIM:300029	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0111008	X-linked cone-rod dystrophy 1		ISO	RGD:1352855	D	RGD:7240710	20170301	OMIM			
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0111008	X-linked cone-rod dystrophy 1		ISO	RGD:1352855	D	RGD:8553225|PMID:11857109	20140508	RGD		DNA:deletions, insertion, snp:cds:multiple (human)	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0111008	X-linked cone-rod dystrophy 1		ISO	RGD:1352855	D	RGD:8553227|PMID:11875055	20140508	RGD		DNA:deletions:exon:g.47192_47206del15, g.47841_47842delGG (human)	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0111008	X-linked cone-rod dystrophy 1		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY, X-LINKED, 1 | ClinVar Annotator: match by term: X-LINKED ROD CONE DYSTROPHY | ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1	PMID:10932196|PMID:11754050|PMID:16055928|PMID:16199547|PMID:16969763|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:24033266|PMID:25741868|PMID:26093275|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:32856788|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36882936|PMID:36996441
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0111008	X-linked cone-rod dystrophy 1		ISO	RGD:1557212	D	RGD:8553232|PMID:20007830	20140508	RGD			
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0111008	X-linked cone-rod dystrophy 1		ISS	RGD:1557212	D	RGD:13592920	20230718	MouseDO		OMIM:304020	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0112124	X-linked retinitis pigmentosa and sinorespiratory infections		ISO	RGD:1352855	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0112124	X-linked retinitis pigmentosa and sinorespiratory infections		ISO	RGD:1352855	D	RGD:7240710	20130221	OMIM			
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0112124	X-linked retinitis pigmentosa and sinorespiratory infections		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	PMID:10932196|PMID:11754050|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:24033266|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441|PMID:8673101
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0112157	X-linked atrophic macular degeneration		ISO	RGD:1352855	D	RGD:7240710	20140911	OMIM			
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:0112157	X-linked atrophic macular degeneration		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MACULAR DEGENERATION, ATROPHIC, X-LINKED | ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic	PMID:10932196|PMID:11754050|PMID:12160730|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:24033266|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10485	esophageal atresia		ISO	RGD:1352855	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10094550|PMID:12920075|PMID:17480003
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:1599600|PMID:16055928	20070208	RGD			
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:1599602|PMID:11968081	20070208	RGD			
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:1599605|PMID:10937588	20070208	RGD			
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8547535|PMID:23701314	20140217	RGD			
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:20861475|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12657579|PMID:16055928|PMID:16969763|PMID:17195164|PMID:17480003|PMID:23150612|PMID:23372056|PMID:25741868|PMID:26143542|PMID:27236918|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:8673101|PMID:8817343|PMID:9536098
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:8673101|PMID:8817343|PMID:9536098
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32036094|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:14691151|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:23681342|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:27995965|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30193314|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:31953110|PMID:32036094|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:14691151|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:23681342|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:27995965|PMID:28041643|PMID:28322733|PMID:28492532|PMID:288634|PMID:28863407|PMID:29276052|PMID:30029497|PMID:30193314|PMID:30289068|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:31953110|PMID:32036094|PMID:3214136|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32795431|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34906470|PMID:34985506|PMID:35432464|PMID:35806195|PMID:36276946|PMID:36460718|PMID:36909829|PMID:36996441|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:16055928|PMID:16199547|PMID:16969763|PMID:17195164|PMID:17576681|PMID:17724181|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:25741868|PMID:26261414|PMID:27620828|PMID:28322733|PMID:28492532|PMID:28863407|PMID:29276052|PMID:30622176|PMID:30718709|PMID:31456290|PMID:31953110|PMID:32036094|PMID:32531858|PMID:32679846|PMID:32702353|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34906470|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36909829|PMID:36996441|PMID:8673101|PMID:8817343|PMID:9536098
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:12336	male infertility		ISO	RGD:1557212	D	RGD:8553213|PMID:18579752	20140507	RGD			
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1352855	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:14791	Leber congenital amaurosis	treatment	ISO	RGD:1557212	D	RGD:8553217|PMID:20384479	20140507	RGD			
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:1909	melanoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24033266|PMID:25741868|PMID:28492532
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:3275	thymoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868|PMID:28492532
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:4448	macular degeneration		ISO	RGD:1352855	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12160730
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:4448	macular degeneration		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy	PMID:10932196|PMID:11754050|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:28492532
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:5679	retinal disease		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10480356|PMID:10932196|PMID:16055928|PMID:16969763|PMID:25741868|PMID:28492532|PMID:31953110|PMID:8673101
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:5723	optic atrophy		ISO	RGD:1352855	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:6039	uveal melanoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:24033266|PMID:25741868|PMID:28492532
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:8466	retinal degeneration		ISO	RGD:1352855	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430481
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:8466	retinal degeneration		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal degeneration	PMID:10932196|PMID:11754050|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:8466	retinal degeneration		ISO	RGD:1557212	D	RGD:8553201|PMID:15671266	20140507	RGD			
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:8501	fundus dystrophy		ISO	RGD:1352855	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11857109
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:8501	fundus dystrophy		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:11180598|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:14564670|PMID:14691151|PMID:15364249|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16969763|PMID:17195164|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19815619|PMID:20631154|PMID:21857984|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23681342|PMID:24033266|PMID:25283059|PMID:25352739|PMID:25356976|PMID:2552515|PMID:25741868|PMID:26197217|PMID:26747767|PMID:26766544|PMID:26872967|PMID:27620828|PMID:27995965|PMID:28322733|PMID:28492532|PMID:28559085|PMID:288634|PMID:28863407|PMID:28912962|PMID:29528978|PMID:29721948|PMID:30193314|PMID:30313097|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31213501|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31816670|PMID:31953110|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32100970|PMID:3214136|PMID:3253185|PMID:32531858|PMID:32702353|PMID:32788070|PMID:32795431|PMID:33090715|PMID:33355362|PMID:33467000|PMID:33576794|PMID:33620278|PMID:34448047|PMID:34745198|PMID:34828430|PMID:34906470|PMID:349855|PMID:34985506|PMID:35432464|PMID:3580619|PMID:35806195|PMID:36276946|PMID:36445968|PMID:3646071|PMID:36460718|PMID:36819107|PMID:36882936|PMID:36996441|PMID:38219857|PMID:38576124|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098|PMID:9855162
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9000343	Vision Disorders		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:10932196|PMID:11754050|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1352855	D	RGD:1599600|PMID:16055928	20070208	RGD		associated with Retinitis Pigmentosa 3;DNA:exon, intron:g.631_IVS6+9del (human)	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1352855	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia | ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME	PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:10946359|PMID:11180598|PMID:11754050|PMID:11793468|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:12859409|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16786505|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:17898302|PMID:18332319|PMID:18487280|PMID:18552978|PMID:19138872|PMID:19218993|PMID:19475717|PMID:19783189|PMID:19815619|PMID:20631154|PMID:20861475|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22382802|PMID:22494545|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23591405|PMID:23681342|PMID:23847139|PMID:23950152|PMID:24033266|PMID:25097241|PMID:25356976|PMID:25640679|PMID:25741868|PMID:26261414|PMID:26747767|PMID:26766544|PMID:27620828|PMID:27768226|PMID:28041643|PMID:28127548|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:28912962|PMID:29276052|PMID:29453956|PMID:29528978|PMID:29555955|PMID:29641573|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30067075|PMID:30105367|PMID:30193314|PMID:30337596|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30902645|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32788070|PMID:32856788|PMID:33090715|PMID:33355362|PMID:33546218|PMID:33576794|PMID:34906470|PMID:34946927|PMID:35892439|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9331262|PMID:9399904|PMID:9536098|PMID:9855162|PMID:9990021
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352855	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12920075
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:24033266|PMID:25741868|PMID:28492532
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1352855	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12920075
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:28492532
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24	PMID:24033266|PMID:25741868|PMID:28492532
1560136	Rpgr	retinitis pigmentosa GTPase regulator	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:10980543|PMID:11180598|PMID:11754050|PMID:11857109|PMID:11968081|PMID:11992260|PMID:12402343|PMID:12657579|PMID:12859409|PMID:14564670|PMID:14691151|PMID:15364249|PMID:16055928|PMID:16199547|PMID:16969763|PMID:17195164|PMID:17576681|PMID:17724181|PMID:17898302|PMID:18552978|PMID:19218993|PMID:19815619|PMID:20591486|PMID:20631154|PMID:20861475|PMID:21857984|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:23591405|PMID:23681342|PMID:23847139|PMID:23950152|PMID:24033266|PMID:25283059|PMID:25356976|PMID:25640679|PMID:25741868|PMID:26093275|PMID:26747767|PMID:26766544|PMID:27162334|PMID:27620828|PMID:27768226|PMID:27995965|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:29555955|PMID:29641573|PMID:30067075|PMID:30105367|PMID:30193314|PMID:30337596|PMID:30543658|PMID:30622176|PMID:30902645|PMID:31054281|PMID:31456290|PMID:31645972|PMID:31652454|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32326409|PMID:32531858|PMID:32679846|PMID:32702353|PMID:33090715|PMID:33247286|PMID:33355362|PMID:33467000|PMID:33546218|PMID:33576794|PMID:33620278|PMID:34745198|PMID:34828430|PMID:34906470|PMID:34946927|PMID:34985506|PMID:35119454|PMID:35432464|PMID:35806195|PMID:35836572|PMID:35892439|PMID:36276946|PMID:36445968|PMID:3646071|PMID:36460718|PMID:36464167|PMID:36819107|PMID:36996441|PMID:37217489|PMID:37854381|PMID:38219857|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098|PMID:9855162
1560137	Fam216b	family with sequence similarity 216, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560137	Fam216b	family with sequence similarity 216, member B	gene	DOID:5041	esophageal cancer		ISO	RGD:1605573	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560139	Rai2	retinoic acid induced 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560139	Rai2	retinoic acid induced 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560139	Rai2	retinoic acid induced 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1353493	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1560139	Rai2	retinoic acid induced 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560139	Rai2	retinoic acid induced 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560139	Rai2	retinoic acid induced 2	gene	DOID:9565	dextrocardia		ISO	RGD:1353493	D	RGD:8554872	20190312	ClinVar		ClinVar Annotator: match by term: Dextrocardia	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606010	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:1909	melanoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606010	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560141	Phf20l1	PHD finger protein 20-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560142	Ypel4	yippee-like 4	gene	DOID:0080600	COVID-19		ISO	RGD:1345149	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560146	C5h1orf87	similar to human chromosome 1 open reading frame 87	gene	DOID:4362	cervical cancer		ISO	RGD:1602983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560146	C5h1orf87	similar to human chromosome 1 open reading frame 87	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560146	C5h1orf87	similar to human chromosome 1 open reading frame 87	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560150	Rab44	RAB44, member RAS oncogene family	gene	DOID:3565	meningioma		ISO	RGD:1602152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:35101336
1560150	Rab44	RAB44, member RAS oncogene family	gene	DOID:4586	familial meningioma		ISO	RGD:1602152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial meningioma	PMID:25741868
1560150	Rab44	RAB44, member RAS oncogene family	gene	DOID:5041	esophageal cancer		ISO	RGD:1602152	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560150	Rab44	RAB44, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:10534	stomach cancer		ISO	RGD:1346607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:1115	sarcoma		ISO	RGD:1346607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:11830	myopia		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:1909	melanoma		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:3070	high grade glioma		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:4362	cervical cancer		ISO	RGD:1346607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:5041	esophageal cancer		ISO	RGD:1346607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1346607	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:630	genetic disease		ISO	RGD:1346607	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346607	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: DIP2C-related developmental disorder with speech delay | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:38421105
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:93	language disorder		ISO	RGD:1346607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868
1560155	Dip2c	Dip2 acetate--CoA ligase C	gene	DOID:9970	obesity		ISO	RGD:1346607	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1560157	Zfp800	zinc finger protein 800	gene	DOID:0060058	lymphoma		ISO	RGD:1603887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560157	Zfp800	zinc finger protein 800	gene	DOID:10534	stomach cancer		ISO	RGD:1603887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560157	Zfp800	zinc finger protein 800	gene	DOID:4362	cervical cancer		ISO	RGD:1603887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560157	Zfp800	zinc finger protein 800	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560157	Zfp800	zinc finger protein 800	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1560157	Zfp800	zinc finger protein 800	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560158	Ndufaf2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1604552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:16200211|PMID:18180188|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284
1560158	Ndufaf2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1604552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:16200211|PMID:18180188|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284
1560158	Ndufaf2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:0112075	nuclear type mitochondrial complex I deficiency 10		ISO	RGD:1604552	D	RGD:7240710	20190315	OMIM			
1560158	Ndufaf2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:0112075	nuclear type mitochondrial complex I deficiency 10		ISO	RGD:1604552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 10	PMID:16200211|PMID:18180188|PMID:20571988|PMID:20818383|PMID:25590979|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284|PMID:34234304
1560158	Ndufaf2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:1909	melanoma		ISO	RGD:1604552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560158	Ndufaf2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:3652	Leigh disease		ISO	RGD:1604552	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy	PMID:16200211|PMID:18180188|PMID:20818383|PMID:22644603|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284
1560158	Ndufaf2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:3652	Leigh disease		ISO	RGD:1604552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:16200211|PMID:18180188|PMID:22644603|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30634555|PMID:31130284
1560158	Ndufaf2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560158	Ndufaf2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:630	genetic disease		ISO	RGD:1604552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16200211|PMID:18180188|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284
1560158	Ndufaf2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:9005683	Metabolic Brain Diseases, Inborn		ISO	RGD:1604552	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16200211
1560160	Tspan6	tetraspanin 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560160	Tspan6	tetraspanin 6	gene	DOID:1909	melanoma		ISO	RGD:1347181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560160	Tspan6	tetraspanin 6	gene	DOID:3070	high grade glioma		ISO	RGD:1347181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560160	Tspan6	tetraspanin 6	gene	DOID:4362	cervical cancer		ISO	RGD:1347181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560160	Tspan6	tetraspanin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560160	Tspan6	tetraspanin 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560160	Tspan6	tetraspanin 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560161	Cdh24	cadherin 24	gene	DOID:1115	sarcoma		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560161	Cdh24	cadherin 24	gene	DOID:1909	melanoma		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560161	Cdh24	cadherin 24	gene	DOID:3275	thymoma		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560161	Cdh24	cadherin 24	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560161	Cdh24	cadherin 24	gene	DOID:4362	cervical cancer		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560161	Cdh24	cadherin 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1353170	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560161	Cdh24	cadherin 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560161	Cdh24	cadherin 24	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1560161	Cdh24	cadherin 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560161	Cdh24	cadherin 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560161	Cdh24	cadherin 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1604754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: dysmorphic features	PMID:22306653|PMID:25741868|PMID:28328139|PMID:28492532
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:0060476	Perlman syndrome		ISO	RGD:1604754	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22306653
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:0060476	Perlman syndrome		ISO	RGD:1604754	D	RGD:7240710	20141015	OMIM			
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:0060476	Perlman syndrome		ISO	RGD:1604754	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DIS3L2-related condition | ClinVar Annotator: match by term: PERLMAN SYNDROME | ClinVar Annotator: match by term: Perlman syndrome | ClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism	PMID:16199547|PMID:16957732|PMID:17576681|PMID:22306653|PMID:23486540|PMID:23594738|PMID:23756462|PMID:24141620|PMID:25640679|PMID:25670083|PMID:25741868|PMID:25741875|PMID:26689913|PMID:27153395|PMID:27431325|PMID:28328139|PMID:28492532|PMID:29625052|PMID:30344923|PMID:30359267|PMID:31350202|PMID:33719213|PMID:35957908|PMID:35980532|PMID:36451132|PMID:39039281|PMID:9536098
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:0060476	Perlman syndrome		ISS	RGD:1557512	D	RGD:13592920	20230718	MouseDO		OMIM:267000	
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:1324	lung cancer		ISO	RGD:1604754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:1909	melanoma		ISO	RGD:1604754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:2154	nephroblastoma		ISO	RGD:1604754	D	RGD:11558020|PMID:22306653	20161107	RGD		DNA:missense mutations, deletions:multiple (human)	
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:630	genetic disease		ISO	RGD:1604754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:687	hepatoblastoma		ISO	RGD:1604754	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:28492532|PMID:35495172
1560168	Dis3l2	DIS3-like 3'-5' exoribonuclease 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1604754	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1560169	Stpg1	sperm-tail PG-rich repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560169	Stpg1	sperm-tail PG-rich repeat containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560169	Stpg1	sperm-tail PG-rich repeat containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560169	Stpg1	sperm-tail PG-rich repeat containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560170	Med14	mediator complex subunit 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560170	Med14	mediator complex subunit 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560170	Med14	mediator complex subunit 14	gene	DOID:10534	stomach cancer		ISO	RGD:1343127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560170	Med14	mediator complex subunit 14	gene	DOID:1059	intellectual disability		ISO	RGD:1343127	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1560170	Med14	mediator complex subunit 14	gene	DOID:1115	sarcoma		ISO	RGD:1343127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560170	Med14	mediator complex subunit 14	gene	DOID:1324	lung cancer		ISO	RGD:1343127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560170	Med14	mediator complex subunit 14	gene	DOID:1909	melanoma		ISO	RGD:1343127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560170	Med14	mediator complex subunit 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560170	Med14	mediator complex subunit 14	gene	DOID:289	endometriosis		ISO	RGD:1343127	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
1560170	Med14	mediator complex subunit 14	gene	DOID:4362	cervical cancer		ISO	RGD:1343127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560170	Med14	mediator complex subunit 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560170	Med14	mediator complex subunit 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560170	Med14	mediator complex subunit 14	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560170	Med14	mediator complex subunit 14	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343127	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1560170	Med14	mediator complex subunit 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560170	Med14	mediator complex subunit 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560170	Med14	mediator complex subunit 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560172	Nphp4	nephrocystin 4	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHARGE syndrome	PMID:25741868
1560172	Nphp4	nephrocystin 4	gene	DOID:0060058	lymphoma		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560172	Nphp4	nephrocystin 4	gene	DOID:0061278	Senior-Loken syndrome 4		ISO	RGD:1351118	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560172	Nphp4	nephrocystin 4	gene	DOID:0061278	Senior-Loken syndrome 4		ISO	RGD:1351118	D	RGD:7240710	20130221	OMIM			
1560172	Nphp4	nephrocystin 4	gene	DOID:0061278	Senior-Loken syndrome 4		ISO	RGD:1351118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NPHP4-related condition | ClinVar Annotator: match by term: SENIOR-LOKEN SYNDROME 4 | ClinVar Annotator: match by term: Senior-Loken syndrome 4	PMID:12205563|PMID:15776426|PMID:16199547|PMID:17576681|PMID:21068128|PMID:21546380|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23559409|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29974258|PMID:30586318|PMID:31308072|PMID:31964843|PMID:32483926|PMID:32865313|PMID:34216551|PMID:34426522|PMID:36090483|PMID:36938085|PMID:36990420|PMID:37230223|PMID:37798099|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1351118	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:25741868|PMID:28492532
1560172	Nphp4	nephrocystin 4	gene	DOID:0110999	Joubert syndrome 4		ISO	RGD:1351118	D	RGD:11068164|PMID:15776426	20160930	RGD		DNA:mutations:exon, intron:multiple	
1560172	Nphp4	nephrocystin 4	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1351118	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:11920287|PMID:12205563|PMID:12244321|PMID:15776426|PMID:17576681|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23574405|PMID:25558065|PMID:25741868|PMID:26346198|PMID:27004616|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1351118	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:11920287|PMID:12205563|PMID:12244321|PMID:15776426|PMID:17576681|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23574405|PMID:24033266|PMID:25558065|PMID:25741868|PMID:26346198|PMID:27004616|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:32865313|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1351118	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:11920287|PMID:12205563|PMID:12244321|PMID:15776426|PMID:17576681|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23574405|PMID:24033266|PMID:25558065|PMID:25741868|PMID:26346198|PMID:27004616|PMID:27124789|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30120289|PMID:30143558|PMID:30586318|PMID:31589614|PMID:31964843|PMID:32865313|PMID:34216551|PMID:34426522|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1351118	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:11920287|PMID:12205563|PMID:12244321|PMID:15776426|PMID:16199547|PMID:17576681|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23574405|PMID:24033266|PMID:25558065|PMID:25741868|PMID:26346198|PMID:27004616|PMID:27124789|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30120289|PMID:30143558|PMID:30586318|PMID:31589614|PMID:31964843|PMID:32865313|PMID:34216551|PMID:34426522|PMID:36090483|PMID:36990420|PMID:37431782|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1351118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:12205563|PMID:15776426|PMID:16199547|PMID:16339905|PMID:21068128|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23820649|PMID:25741868|PMID:26346198|PMID:28492532|PMID:36938085
1560172	Nphp4	nephrocystin 4	gene	DOID:0111113	nephronophthisis 2		ISO	RGD:1351118	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Infantile nephronophthisis	PMID:25741868|PMID:28492532
1560172	Nphp4	nephrocystin 4	gene	DOID:0111115	nephronophthisis 4		ISO	RGD:1351118	D	RGD:11537341|PMID:18076122	20160929	RGD		DNA:nonsense mutations, duplications:exon:multiple	
1560172	Nphp4	nephrocystin 4	gene	DOID:0111115	nephronophthisis 4		ISO	RGD:1351118	D	RGD:11537342|PMID:14750102	20160929	RGD		DNA:nonsense mutation: :3272del (human)	
1560172	Nphp4	nephrocystin 4	gene	DOID:0111115	nephronophthisis 4		ISO	RGD:1351118	D	RGD:11537355|PMID:12205563	20160930	RGD		DNA:missense mutations, nonsense mutations, splice-site mutations:exon, intron:multiple	
1560172	Nphp4	nephrocystin 4	gene	DOID:0111115	nephronophthisis 4		ISO	RGD:1351118	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560172	Nphp4	nephrocystin 4	gene	DOID:0111115	nephronophthisis 4		ISO	RGD:1351118	D	RGD:7240710	20130221	OMIM			
1560172	Nphp4	nephrocystin 4	gene	DOID:0111115	nephronophthisis 4		ISO	RGD:1351118	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 4	PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25326637|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:33532864|PMID:34295353|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:0111115	nephronophthisis 4		ISO	RGD:1351118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEPHRONOPHTHISIS 4 | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 4, JUVENILE | ClinVar Annotator: match by term: Nephronophthisis 4	PMID:12205563|PMID:12244321|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17576681|PMID:21068128|PMID:21866095|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23574405|PMID:23820649|PMID:24154662|PMID:25741868|PMID:26346198|PMID:26489029|PMID:28492532|PMID:31308072|PMID:31810733|PMID:33532864|PMID:36090483|PMID:36938085|PMID:37230223|PMID:37798099|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:0111115	nephronophthisis 4		ISS	RGD:1621253	D	RGD:13592920	20230718	MouseDO		OMIM:606966	
1560172	Nphp4	nephrocystin 4	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1351118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:25741868|PMID:28492532|PMID:31308072
1560172	Nphp4	nephrocystin 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1351118	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:34906470
1560172	Nphp4	nephrocystin 4	gene	DOID:1074	kidney failure		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868|PMID:28492532
1560172	Nphp4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:11065524|PMID:17855640	20160929	RGD		DNA:deletion, missense mutations, splice-site mutation:cds, intron:multiple	
1560172	Nphp4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:30143558|PMID:6837691|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:6837691|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:24154662|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:25741916|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:34850017|PMID:36090483|PMID:6837691|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:24154662|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:27854218|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:34850017|PMID:36090483|PMID:6837691|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:24154662|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:34850017|PMID:36090483|PMID:6837691|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:12205563|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23820649|PMID:25640679|PMID:25741868|PMID:26346198|PMID:26489029|PMID:28492532|PMID:29127258|PMID:31308072|PMID:31810733|PMID:33323469|PMID:33946315|PMID:34850017|PMID:36090483|PMID:36938085|PMID:37230223|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:12205563|PMID:15776426|PMID:16199547|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:22773737|PMID:23167750|PMID:23559409|PMID:25640679|PMID:25741868|PMID:26489029|PMID:28492532|PMID:31810733|PMID:33323469|PMID:33946315|PMID:34850017|PMID:36090483|PMID:36938085|PMID:37230223|PMID:37798099|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:12205563|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23820649|PMID:25640679|PMID:25741868|PMID:26346198|PMID:26489029|PMID:28492532|PMID:31308072|PMID:31810733|PMID:33323469|PMID:33946315|PMID:34850017|PMID:36090483|PMID:36938085|PMID:37230223|PMID:37798099|PMID:9536098
1560172	Nphp4	nephrocystin 4	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1351118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:25741868|PMID:28492532|PMID:31308072
1560172	Nphp4	nephrocystin 4	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	
1560172	Nphp4	nephrocystin 4	gene	DOID:1682	congenital heart disease		ISO	RGD:1351118	D	RGD:11537354|PMID:22550138	20160930	RGD		DNA:missense mutations: :multiple	
1560172	Nphp4	nephrocystin 4	gene	DOID:1909	melanoma		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560172	Nphp4	nephrocystin 4	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868|PMID:28492532
1560172	Nphp4	nephrocystin 4	gene	DOID:2975	cystic kidney disease		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic renal disease	PMID:12205563|PMID:18076122|PMID:23559409|PMID:28492532
1560172	Nphp4	nephrocystin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1351118	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560172	Nphp4	nephrocystin 4	gene	DOID:5223	infertility		ISO	RGD:1351118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Infertility	PMID:12205563|PMID:12244321|PMID:23559409|PMID:25741868|PMID:28492532
1560172	Nphp4	nephrocystin 4	gene	DOID:557	kidney disease		ISO	RGD:1351118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:12205563|PMID:15776426|PMID:16339905|PMID:22773737|PMID:23217326|PMID:23820649|PMID:25741868|PMID:26346198|PMID:28492532
1560172	Nphp4	nephrocystin 4	gene	DOID:5723	optic atrophy		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1560172	Nphp4	nephrocystin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560172	Nphp4	nephrocystin 4	gene	DOID:576	proteinuria		ISO	RGD:1351118	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868|PMID:28492532
1560172	Nphp4	nephrocystin 4	gene	DOID:630	genetic disease		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36090483|PMID:37230223
1560172	Nphp4	nephrocystin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560172	Nphp4	nephrocystin 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:12205563|PMID:16199547|PMID:21068128|PMID:23559409|PMID:25741868|PMID:27124789|PMID:28492532|PMID:30120289|PMID:31589614|PMID:31964843
1560172	Nphp4	nephrocystin 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1560172	Nphp4	nephrocystin 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1560172	Nphp4	nephrocystin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560172	Nphp4	nephrocystin 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:10534	stomach cancer		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:1115	sarcoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:1324	lung cancer		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:13269	hereditary coproporphyria		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary coproporphyria	PMID:25741868
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:1909	melanoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:3070	high grade glioma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:5041	esophageal cancer		ISO	RGD:1601865	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:674	cleft palate		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:9003566	Mesothelioma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:9004657	Weight Gain		ISO	RGD:1601865	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560173	Ndc1	NDC1 transmembrane nucleoporin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560175	Usf3	upstream transcription factor family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560175	Usf3	upstream transcription factor family member 3	gene	DOID:0081250	CIC-rearranged sarcoma		ISO	RGD:1602969	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: CIC-DUX Sarcoma	
1560175	Usf3	upstream transcription factor family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560175	Usf3	upstream transcription factor family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560175	Usf3	upstream transcription factor family member 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1560175	Usf3	upstream transcription factor family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560175	Usf3	upstream transcription factor family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560175	Usf3	upstream transcription factor family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560175	Usf3	upstream transcription factor family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560177	Lhfpl6	LHFPL tetraspan subfamily member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560177	Lhfpl6	LHFPL tetraspan subfamily member 6	gene	DOID:1324	lung cancer		ISO	RGD:1347444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560177	Lhfpl6	LHFPL tetraspan subfamily member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1347444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560177	Lhfpl6	LHFPL tetraspan subfamily member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560177	Lhfpl6	LHFPL tetraspan subfamily member 6	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347444	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1560177	Lhfpl6	LHFPL tetraspan subfamily member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560177	Lhfpl6	LHFPL tetraspan subfamily member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:0070669	autosomal recessive nonsyndromic deafness 122		ISO	RGD:1606198	D	RGD:7240710	20240221	OMIM			
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:0070669	autosomal recessive nonsyndromic deafness 122		ISS	RGD:1556885	D	RGD:13592920	20260507	MouseDO		OMIM:620714	
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:10534	stomach cancer		ISO	RGD:1606198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:1324	lung cancer		ISO	RGD:1606198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:3275	thymoma		ISO	RGD:1606198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606198	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606198	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1606198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:9007853	Worster-Drought Syndrome		ISO	RGD:1606198	D	RGD:8554872	20141006	ClinVar		ClinVar Annotator: match by term: Worster Drought syndrome	PMID:24375697
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560183	Tmtc4	transmembrane O-mannosyltransferase targeting cadherins 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560188	Zfp14	ZFP14 zinc finger protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560188	Zfp14	ZFP14 zinc finger protein	gene	DOID:1324	lung cancer		ISO	RGD:1605971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560188	Zfp14	ZFP14 zinc finger protein	gene	DOID:1909	melanoma		ISO	RGD:1605971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560188	Zfp14	ZFP14 zinc finger protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560188	Zfp14	ZFP14 zinc finger protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560190	Slamf7	SLAM family member 7	gene	DOID:0080600	COVID-19		ISO	RGD:1345987	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1560190	Slamf7	SLAM family member 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560190	Slamf7	SLAM family member 7	gene	DOID:12849	autistic disorder		ISO	RGD:1345987	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1560190	Slamf7	SLAM family member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560190	Slamf7	SLAM family member 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560190	Slamf7	SLAM family member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560191	Zfp62	zinc finger protein 62	gene	DOID:1324	lung cancer		ISO	RGD:1353379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1560195	Rnft2	ring finger protein, transmembrane 2	gene	DOID:1324	lung cancer		ISO	RGD:1605925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560195	Rnft2	ring finger protein, transmembrane 2	gene	DOID:1909	melanoma		ISO	RGD:1605925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560195	Rnft2	ring finger protein, transmembrane 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560195	Rnft2	ring finger protein, transmembrane 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560195	Rnft2	ring finger protein, transmembrane 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560195	Rnft2	ring finger protein, transmembrane 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560195	Rnft2	ring finger protein, transmembrane 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1560195	Rnft2	ring finger protein, transmembrane 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560195	Rnft2	ring finger protein, transmembrane 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560198	Eif1ax	eukaryotic translation initiation factor 1A, X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560198	Eif1ax	eukaryotic translation initiation factor 1A, X-linked	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:27993330|PMID:28594900|PMID:30305285|PMID:32901952|PMID:36371345|PMID:36551583
1560198	Eif1ax	eukaryotic translation initiation factor 1A, X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1351588	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560198	Eif1ax	eukaryotic translation initiation factor 1A, X-linked	gene	DOID:1115	sarcoma		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560198	Eif1ax	eukaryotic translation initiation factor 1A, X-linked	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:30420357|PMID:35101336
1560198	Eif1ax	eukaryotic translation initiation factor 1A, X-linked	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:23793026|PMID:27745836|PMID:27993330|PMID:28594900|PMID:28810145|PMID:29206102|PMID:30305285|PMID:30420357|PMID:32901952|PMID:33230298|PMID:36098958|PMID:36371345|PMID:36551583|PMID:37803816
1560198	Eif1ax	eukaryotic translation initiation factor 1A, X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560198	Eif1ax	eukaryotic translation initiation factor 1A, X-linked	gene	DOID:6039	uveal melanoma		ISO	RGD:1351588	D	RGD:11554173	20260414	CTD		CTD Direct Evidence: marker/mechanism	PMID:23793026
1560198	Eif1ax	eukaryotic translation initiation factor 1A, X-linked	gene	DOID:6438	malignant choroid melanoma		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Choroidal melanoma	PMID:25741868
1560198	Eif1ax	eukaryotic translation initiation factor 1A, X-linked	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560198	Eif1ax	eukaryotic translation initiation factor 1A, X-linked	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1351588	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005
1560198	Eif1ax	eukaryotic translation initiation factor 1A, X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560198	Eif1ax	eukaryotic translation initiation factor 1A, X-linked	gene	DOID:9538	multiple myeloma		ISO	RGD:1351588	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1560200	Gpr160	G protein-coupled receptor 160	gene	DOID:1115	sarcoma		ISO	RGD:1345785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560201	Fam114a1	family with sequence similarity 114, member A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560201	Fam114a1	family with sequence similarity 114, member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560201	Fam114a1	family with sequence similarity 114, member A1	gene	DOID:1909	melanoma		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560201	Fam114a1	family with sequence similarity 114, member A1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560201	Fam114a1	family with sequence similarity 114, member A1	gene	DOID:4362	cervical cancer		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560201	Fam114a1	family with sequence similarity 114, member A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606191	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560201	Fam114a1	family with sequence similarity 114, member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560201	Fam114a1	family with sequence similarity 114, member A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560201	Fam114a1	family with sequence similarity 114, member A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560201	Fam114a1	family with sequence similarity 114, member A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560202	Lrrc14	leucine rich repeat containing 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560202	Lrrc14	leucine rich repeat containing 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560204	Nxt2	nuclear transport factor 2-like export factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560204	Nxt2	nuclear transport factor 2-like export factor 2	gene	DOID:12336	male infertility		ISO	RGD:1350653	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868
1560204	Nxt2	nuclear transport factor 2-like export factor 2	gene	DOID:1909	melanoma		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560204	Nxt2	nuclear transport factor 2-like export factor 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1560204	Nxt2	nuclear transport factor 2-like export factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560204	Nxt2	nuclear transport factor 2-like export factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560205	Rbm46	RNA binding motif protein 46	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560205	Rbm46	RNA binding motif protein 46	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560205	Rbm46	RNA binding motif protein 46	gene	DOID:10534	stomach cancer		ISO	RGD:1602830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560205	Rbm46	RNA binding motif protein 46	gene	DOID:1115	sarcoma		ISO	RGD:1602830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560205	Rbm46	RNA binding motif protein 46	gene	DOID:5041	esophageal cancer		ISO	RGD:1602830	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560213	Srrm4	serine/arginine repetitive matrix 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560213	Srrm4	serine/arginine repetitive matrix 4	gene	DOID:1115	sarcoma		ISO	RGD:1603376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560213	Srrm4	serine/arginine repetitive matrix 4	gene	DOID:3426	vestibular disease		ISO	RGD:1603376	D	RGD:11554173	20170110	CTD		CTD Direct Evidence: marker/mechanism	PMID:17613114
1560213	Srrm4	serine/arginine repetitive matrix 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1603376	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560213	Srrm4	serine/arginine repetitive matrix 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560213	Srrm4	serine/arginine repetitive matrix 4	gene	DOID:9002500	Hearing Disorders		ISO	RGD:1603376	D	RGD:11554173	20170110	CTD		CTD Direct Evidence: marker/mechanism	PMID:17613114
1560215	Calhm3	calcium homeostasis modulator 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560216	Helq	helicase, POLQ-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560216	Helq	helicase, POLQ-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560216	Helq	helicase, POLQ-like	gene	DOID:10534	stomach cancer		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560216	Helq	helicase, POLQ-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560216	Helq	helicase, POLQ-like	gene	DOID:1115	sarcoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560216	Helq	helicase, POLQ-like	gene	DOID:1324	lung cancer		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560216	Helq	helicase, POLQ-like	gene	DOID:1909	melanoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560216	Helq	helicase, POLQ-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560216	Helq	helicase, POLQ-like	gene	DOID:2394	ovarian cancer		ISO	RGD:1605893	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1560216	Helq	helicase, POLQ-like	gene	DOID:3275	thymoma		ISO	RGD:1605893	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560216	Helq	helicase, POLQ-like	gene	DOID:4362	cervical cancer		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560216	Helq	helicase, POLQ-like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560216	Helq	helicase, POLQ-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560216	Helq	helicase, POLQ-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560216	Helq	helicase, POLQ-like	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605893	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1560216	Helq	helicase, POLQ-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560216	Helq	helicase, POLQ-like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560216	Helq	helicase, POLQ-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560216	Helq	helicase, POLQ-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560220	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:0060336	3-methylglutaconic aciduria		ISO	RGD:1603908	D	RGD:8554872	20181206	ClinVar		ClinVar Annotator: match by term: 3-Methylglutaconic aciduria	PMID:25741868
1560220	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:0110000	3-methylglutaconic aciduria type 5		ISO	RGD:1603908	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560220	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:0110000	3-methylglutaconic aciduria type 5		ISO	RGD:1603908	D	RGD:7240710	20130731	OMIM			
1560220	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:0110000	3-methylglutaconic aciduria type 5		ISO	RGD:1603908	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: DNAJC19-related condition | ClinVar Annotator: match by term: MGA, TYPE V	PMID:16055927|PMID:16199547|PMID:17576681|PMID:22797137|PMID:25741868|PMID:27426421|PMID:27928778|PMID:28296734|PMID:28492532|PMID:28771251|PMID:29625556|PMID:34008892|PMID:9536098
1560220	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560220	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:1115	sarcoma		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560220	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:1324	lung cancer		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560220	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560220	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:4362	cervical cancer		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560220	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560220	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560220	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:630	genetic disease		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1560220	Dnajc19	DnaJ heat shock protein family (Hsp40) member C19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560224	Arhgef33	Rho guanine nucleotide exchange factor 33	gene	DOID:0060058	lymphoma		ISO	RGD:3516342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560224	Arhgef33	Rho guanine nucleotide exchange factor 33	gene	DOID:4362	cervical cancer		ISO	RGD:3516342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560224	Arhgef33	Rho guanine nucleotide exchange factor 33	gene	DOID:5041	esophageal cancer		ISO	RGD:3516342	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560224	Arhgef33	Rho guanine nucleotide exchange factor 33	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:3516342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1560224	Arhgef33	Rho guanine nucleotide exchange factor 33	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:3516342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560224	Arhgef33	Rho guanine nucleotide exchange factor 33	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:3516342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560224	Arhgef33	Rho guanine nucleotide exchange factor 33	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3516342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:0070531	foveal hypoplasia 2		ISO	RGD:2290191	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:0070531	foveal hypoplasia 2		ISO	RGD:2290191	D	RGD:7240710	20140416	OMIM			
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:0070531	foveal hypoplasia 2		ISO	RGD:2290191	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: SLC38A8-related condition	PMID:24290379|PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:33498813|PMID:33594928|PMID:35029636|PMID:36748941
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:0070531	foveal hypoplasia 2		ISS	RGD:1618141	D	RGD:13592920	20240321	MouseDO		OMIM:609218	
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:1115	sarcoma		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:2290191	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:17576681|PMID:28492532|PMID:28714225|PMID:33594928|PMID:9536098
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:3488	cellulitis		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cellulitis	PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:33498813|PMID:35029636|PMID:36748941
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:4362	cervical cancer		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:5041	esophageal cancer		ISO	RGD:2290191	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532|PMID:29345414
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:576	proteinuria		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:33498813|PMID:35029636|PMID:36748941
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:630	genetic disease		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24045842|PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:33498813|PMID:35029636|PMID:36748941
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:870	neuropathy		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:33498813|PMID:35029636|PMID:36748941
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:9001386	Albinism		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:25741868
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:2290191	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Foveal hypoplasia | ClinVar Annotator: match by term: Isolated foveal hypoplasia | ClinVar Annotator: match by term: foveal hypoplasia	PMID:24045842|PMID:24290379|PMID:25741868|PMID:28492532|PMID:32032626|PMID:32830442|PMID:33594928|PMID:35029636
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deep venous thrombosis	PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:33498813|PMID:35029636|PMID:36748941
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:9004303	Tubulointerstitial Fibrosis		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tubulointerstitial fibrosis	PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:33498813|PMID:35029636|PMID:36748941
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:9005532	Muscle Weakness		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:33498813|PMID:35029636|PMID:36748941
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:33498813|PMID:35029636|PMID:36748941
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:9006743	Spasm		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:33498813|PMID:35029636|PMID:36748941
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:9649	congenital nystagmus		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:25741868
1560237	Slc38a8	solute carrier family 38, member 8	gene	DOID:9650	pathologic nystagmus		ISO	RGD:2290191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: nystagmus	PMID:24290379|PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:32830442|PMID:33498813|PMID:35029636|PMID:36748941
1560239	Tex11	testis expressed 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560239	Tex11	testis expressed 11	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1347600	D	RGD:8554872	20210907	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25970010|PMID:28132688
1560239	Tex11	testis expressed 11	gene	DOID:0070185	X-linked spermatogenic failure 2		ISO	RGD:1347600	D	RGD:7240710	20170419	OMIM			
1560239	Tex11	testis expressed 11	gene	DOID:0070185	X-linked spermatogenic failure 2		ISO	RGD:1347600	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE, X-LINKED, 2 | ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 | ClinVar Annotator: match by term: TEX11-related condition	PMID:25741868|PMID:28492532
1560239	Tex11	testis expressed 11	gene	DOID:12336	male infertility		ISO	RGD:1347600	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868
1560239	Tex11	testis expressed 11	gene	DOID:1324	lung cancer		ISO	RGD:1347600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560239	Tex11	testis expressed 11	gene	DOID:3275	thymoma		ISO	RGD:1347600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560239	Tex11	testis expressed 11	gene	DOID:4362	cervical cancer		ISO	RGD:1347600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560239	Tex11	testis expressed 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1347600	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560239	Tex11	testis expressed 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560239	Tex11	testis expressed 11	gene	DOID:630	genetic disease		ISO	RGD:1347600	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1560239	Tex11	testis expressed 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560242	Cfap95	cilia and flagella associated protein 95	gene	DOID:1324	lung cancer		ISO	RGD:1605872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560242	Cfap95	cilia and flagella associated protein 95	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560242	Cfap95	cilia and flagella associated protein 95	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:0111224	centronuclear myopathy 4		ISO	RGD:1345830	D	RGD:7240710	20140911	OMIM			
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:0111224	centronuclear myopathy 4		ISO	RGD:1345830	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: CCDC78-related condition | ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR 4 | ClinVar Annotator: match by term: Myopathy, centronuclear, 4	PMID:17576681|PMID:18414213|PMID:22818856|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:1115	sarcoma		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:11830	myopia		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:1324	lung cancer		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:14717	centronuclear myopathy		ISO	RGD:1345830	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: centronuclear myopathy	PMID:25741868|PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:1596	depressive disorder		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:1826	epilepsy		ISO	RGD:126735466|RGD:156439480	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:1924	hypogonadism		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:2030	anxiety disorder		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:3275	thymoma		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:422	congenital structural myopathy		ISO	RGD:1345830	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:423	myopathy		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:16199547|PMID:25741868|PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:4362	cervical cancer		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:630	genetic disease		ISO	RGD:1345830	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:9003760	Myalgia		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:9006743	Spasm		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:9008023	Memory Disorders		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:9008520	Chronic Pain		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic pain	PMID:25741868
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
1560244	Ccdc78	coiled-coil domain containing 78	gene	DOID:9970	obesity		ISO	RGD:1345830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
1560247	Cldn2	claudin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560247	Cldn2	claudin 2	gene	DOID:4989	pancreatitis		ISO	RGD:1352349	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143602
1560247	Cldn2	claudin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560247	Cldn2	claudin 2	gene	DOID:9004144	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS		ISO	RGD:1352349	D	RGD:7240710	20210414	OMIM			
1560247	Cldn2	claudin 2	gene	DOID:9004144	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS		ISO	RGD:1352349	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis	
1560247	Cldn2	claudin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560248	Fmnl2	formin-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560248	Fmnl2	formin-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560248	Fmnl2	formin-like 2	gene	DOID:10941	intracranial aneurysm		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial	PMID:25741868
1560248	Fmnl2	formin-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560248	Fmnl2	formin-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560248	Fmnl2	formin-like 2	gene	DOID:1909	melanoma		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560248	Fmnl2	formin-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560248	Fmnl2	formin-like 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1560248	Fmnl2	formin-like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560248	Fmnl2	formin-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560248	Fmnl2	formin-like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560248	Fmnl2	formin-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315771	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560248	Fmnl2	formin-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560248	Fmnl2	formin-like 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1315771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1560248	Fmnl2	formin-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560248	Fmnl2	formin-like 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1315771	D	RGD:8554872	20210309	ClinVar		ClinVar Annotator: match by term: Crohn disease	
1560248	Fmnl2	formin-like 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315771	D	RGD:11554173	20200211	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1560248	Fmnl2	formin-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560248	Fmnl2	formin-like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560251	Caap1	caspase activity and apoptosis inhibitor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560251	Caap1	caspase activity and apoptosis inhibitor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560251	Caap1	caspase activity and apoptosis inhibitor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560251	Caap1	caspase activity and apoptosis inhibitor 1	gene	DOID:1324	lung cancer		ISO	RGD:1344567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560251	Caap1	caspase activity and apoptosis inhibitor 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1344567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1560251	Caap1	caspase activity and apoptosis inhibitor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560251	Caap1	caspase activity and apoptosis inhibitor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560252	Ccdc107	coiled-coil domain containing 107	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560258	Nupr2	nuclear protein 2, transcriptional regulator	gene	DOID:10534	stomach cancer		ISO	RGD:6770124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560258	Nupr2	nuclear protein 2, transcriptional regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:6770124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560259	Magee1	MAGE family member E1	gene	DOID:0080600	COVID-19		ISO	RGD:1349261	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560259	Magee1	MAGE family member E1	gene	DOID:4138	bile duct disease		ISO	RGD:1349261	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30515189
1560259	Magee1	MAGE family member E1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1349261	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:0050152	aspiration pneumonia		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aspiration pneumonia	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346078	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:0060249	scoliosis		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:0060821	syndromic X-linked intellectual disability 14		ISO	RGD:1346078	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:0060821	syndromic X-linked intellectual disability 14		ISO	RGD:1346078	D	RGD:7240710	20190619	OMIM			
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:0060821	syndromic X-linked intellectual disability 14		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14	PMID:16199547|PMID:17576681|PMID:17704778|PMID:19238151|PMID:22957832|PMID:25741868|PMID:26012578|PMID:28492532|PMID:28708303|PMID:31737052|PMID:9536098
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:1059	intellectual disability		ISO	RGD:1346078	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:12639	pyloric stenosis		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyloric stenosis	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:1826	epilepsy		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:4362	cervical cancer		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:5041	esophageal cancer		ISO	RGD:1346078	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:630	genetic disease		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:26012578|PMID:26350204|PMID:28492532|PMID:28708303
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:850	lung disease		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346078	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1346078	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17704778
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560264	Upf3b	UPF3B, regulator of nonsense mediated mRNA decay	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:0050957	spinocerebellar ataxia 4		ISO	RGD:1319399	D	RGD:7240710	20260805	OMIM			
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:0051061	stroke		ISO	RGD:1319399	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319399	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1319399	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:19597491|PMID:19597492|PMID:22544366|PMID:29892015|PMID:30061737
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:0070783	idiopathic generalized epilepsy 20		ISO	RGD:1319399	D	RGD:7240710	20260805	OMIM			
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:0070783	idiopathic generalized epilepsy 20		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED 20	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:10283	prostate cancer		ISO	RGD:1319399	D	RGD:7240710	20260805	OMIM			
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:1319399	D	RGD:2315694|PMID:16637072	20100108	RGD		DNA:deletion (human)	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:1319399	D	RGD:2315695|PMID:15750593	20100108	RGD		DNA, mRNA:mutations, decreased expression: :multiple, prostate gland (human)	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:1115	sarcoma		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:1324	lung cancer		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:1612	breast cancer	exacerbates	ISO	RGD:1319399	D	RGD:151361167|PMID:33217982	20220227	RGD		mRNA:decreased expression:breast (human)	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:1909	melanoma		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1319399	D	RGD:151361169|PMID:20534899	20220227	RGD		protein:increased expression:blood serum (human)	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:3030	mucinous adenocarcinoma		ISO	RGD:1319399	D	RGD:151361166|PMID:28713972	20220227	RGD		protein:increased expression:colon, nucleus, cytoplasm (human)	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:3275	thymoma		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1319399	D	RGD:2315696|PMID:15671546	20100108	RGD			
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1319399	D	RGD:151361163|PMID:32653938	20220227	RGD		DNA:mutations:multiple (human)	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:3908	lung non-small cell carcinoma	exacerbates	ISO	RGD:1319399	D	RGD:151361164|PMID:23144151	20220227	RGD		mRNA:decreased expression:lung (human)	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1319399	D	RGD:151361163|PMID:32653938	20220227	RGD		DNA:mutations:multiple (human)	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319399	D	RGD:2315697|PMID:11812077	20100108	RGD		mRNA:increased expression:uterine cervix	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:4929	tubular adenocarcinoma	exacerbates	ISO	RGD:1319399	D	RGD:151361166|PMID:28713972	20220227	RGD		protein:increased expression:colon, nucleus, cytoplasm (human)	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319399	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1319399	D	RGD:151361169|PMID:20534899	20220227	RGD		associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human)	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1319399	D	RGD:151361162|PMID:32277050	20220227	RGD		human cell line in a mouse model	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:687	hepatoblastoma		ISO	RGD:1319399	D	RGD:151361168|PMID:33368532	20220227	RGD		protein:increased expression:liver (human)	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9000965	Neoplasm Metastasis	exacerbates	ISO	RGD:1319399	D	RGD:151361170|PMID:33479213	20220227	RGD		brain metastasis associated with lung adenocarcinoma;DNA:mutations:multiple (human)	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1319399	D	RGD:11554173	20240109	CTD		CTD Direct Evidence: marker/mechanism	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319399	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:16637072|PMID:17013881|PMID:29610475
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319399	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:30559488
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9004762	Familial Atrial Fibrillation 8		ISO	RGD:1319399	D	RGD:11554173	20231205	CTD		CTD Direct Evidence: marker/mechanism	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9004762	Familial Atrial Fibrillation 8		ISO	RGD:1319399	D	RGD:7240710	20260805	OMIM			
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9004762	Familial Atrial Fibrillation 8		ISO	RGD:1319399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation, familial, 8	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319399	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:25741868
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1319399	D	RGD:151361169|PMID:20534899	20220227	RGD		protein:increased expression:blood serum (human)	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9008214	Genu Valgum		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9008582	Developmental Disease		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1319399	D	RGD:151361165|PMID:27435776	20220227	RGD		mRNA, protein:increased expression:colorectum (human)	
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9970	obesity		ISO	RGD:1319399	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:29273807
1560268	Zfhx3	zinc finger homeobox 3	gene	DOID:9970	obesity		ISO	RGD:1319399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1560271	Mdfi	MyoD family inhibitor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560271	Mdfi	MyoD family inhibitor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560271	Mdfi	MyoD family inhibitor	gene	DOID:5041	esophageal cancer		ISO	RGD:1353332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560271	Mdfi	MyoD family inhibitor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560271	Mdfi	MyoD family inhibitor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560271	Mdfi	MyoD family inhibitor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560274	Slc33a2	solute carrier family 33 member 2	gene	DOID:0060058	lymphoma		ISO	RGD:1605597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560274	Slc33a2	solute carrier family 33 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560274	Slc33a2	solute carrier family 33 member 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1605597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1560274	Slc33a2	solute carrier family 33 member 2	gene	DOID:3275	thymoma		ISO	RGD:1605597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560274	Slc33a2	solute carrier family 33 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605597	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560274	Slc33a2	solute carrier family 33 member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560274	Slc33a2	solute carrier family 33 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560274	Slc33a2	solute carrier family 33 member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560274	Slc33a2	solute carrier family 33 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560274	Slc33a2	solute carrier family 33 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560280	Agbl1	AGBL carboxypeptidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560280	Agbl1	AGBL carboxypeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560280	Agbl1	AGBL carboxypeptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1345768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560280	Agbl1	AGBL carboxypeptidase 1	gene	DOID:11555	Fuchs' endothelial dystrophy		ISO	RGD:1345768	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fuchs' endothelial dystrophy	PMID:25741868
1560280	Agbl1	AGBL carboxypeptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1345768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560280	Agbl1	AGBL carboxypeptidase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560280	Agbl1	AGBL carboxypeptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560280	Agbl1	AGBL carboxypeptidase 1	gene	DOID:9007217	Corneal Dystrophy, Fuchs Endothelial, 8		ISO	RGD:1345768	D	RGD:7240710	20140911	OMIM			
1560280	Agbl1	AGBL carboxypeptidase 1	gene	DOID:9007217	Corneal Dystrophy, Fuchs Endothelial, 8		ISO	RGD:1345768	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AGBL1-related condition | ClinVar Annotator: match by term: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 | ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8	PMID:25741868
1560280	Agbl1	AGBL carboxypeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560284	Spaca1	sperm acrosome associated 1	gene	DOID:0070584	spermatogenic failure 85		ISO	RGD:1344211	D	RGD:7240710	20230906	OMIM			
1560284	Spaca1	sperm acrosome associated 1	gene	DOID:0070584	spermatogenic failure 85		ISO	RGD:1344211	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 85	
1560284	Spaca1	sperm acrosome associated 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560286	Szrd1	SUZ RNA binding domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1607050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560286	Szrd1	SUZ RNA binding domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1607050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560286	Szrd1	SUZ RNA binding domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560287	Ncald	neurocalcin delta	gene	DOID:0080600	COVID-19		ISO	RGD:1348281	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560287	Ncald	neurocalcin delta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560287	Ncald	neurocalcin delta	gene	DOID:1115	sarcoma		ISO	RGD:1348281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560287	Ncald	neurocalcin delta	gene	DOID:3275	thymoma		ISO	RGD:1348281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560287	Ncald	neurocalcin delta	gene	DOID:4362	cervical cancer		ISO	RGD:1348281	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560287	Ncald	neurocalcin delta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560289	Fam194c	family with sequence similarity 149 member C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560289	Fam194c	family with sequence similarity 149 member C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560290	Sntg1	syntrophin, gamma 1	gene	DOID:1909	melanoma		ISO	RGD:1347731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560290	Sntg1	syntrophin, gamma 1	gene	DOID:3070	high grade glioma		ISO	RGD:1347731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560290	Sntg1	syntrophin, gamma 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560290	Sntg1	syntrophin, gamma 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560290	Sntg1	syntrophin, gamma 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1353862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:0061072	immunodeficiency 102		ISO	RGD:1353862	D	RGD:7240710	20220608	OMIM			
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:0061072	immunodeficiency 102		ISO	RGD:1353862	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 102 | ClinVar Annotator: match by term: Immunodeficiency 102	PMID:25741868|PMID:33876203|PMID:35464398
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:1227	neutropenia		ISO	RGD:1353862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	PMID:25741868
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1353862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:2841	asthma		ISO	RGD:1353862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1353862	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1353862	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:615	leukopenia		ISO	RGD:1353862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukopenia	PMID:25741868
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:7998	hyperthyroidism		ISO	RGD:1353862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353862	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1353862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:9007541	Common Variable Immunodeficiency 15		ISO	RGD:1353862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Decreased circulating antibody concentration	PMID:25741868
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:9008595	Brain Abscess		ISO	RGD:1353862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brain abscess	PMID:25741868
1560293	Sash3	SAM and SH3 domain containing 3	gene	DOID:9471	meningitis		ISO	RGD:1353862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningitis	PMID:25741868
1560300	Slf2	SMC5/6 complex localization factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560300	Slf2	SMC5/6 complex localization factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560300	Slf2	SMC5/6 complex localization factor 2	gene	DOID:1909	melanoma		ISO	RGD:1349080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560300	Slf2	SMC5/6 complex localization factor 2	gene	DOID:3070	high grade glioma		ISO	RGD:1349080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560300	Slf2	SMC5/6 complex localization factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560300	Slf2	SMC5/6 complex localization factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560300	Slf2	SMC5/6 complex localization factor 2	gene	DOID:630	genetic disease		ISO	RGD:1349080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	
1560300	Slf2	SMC5/6 complex localization factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560300	Slf2	SMC5/6 complex localization factor 2	gene	DOID:9006377	Atelis syndrome 1		ISO	RGD:1349080	D	RGD:7240710	20230125	OMIM			
1560300	Slf2	SMC5/6 complex localization factor 2	gene	DOID:9006377	Atelis syndrome 1		ISO	RGD:1349080	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATELIS SYNDROME 1 | ClinVar Annotator: match by term: Atelis syndrome 1 | ClinVar Annotator: match by term: SLF2-related condition	PMID:25741868
1560300	Slf2	SMC5/6 complex localization factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:0080600	COVID-19		ISO	RGD:1353110	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:1324	lung cancer		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:1909	melanoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1353110	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:28114269
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353110	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:28114269
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560307	Llgl2	LLGL scribble cell polarity complex component 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560308	Exph5	exophilin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560308	Exph5	exophilin 5	gene	DOID:10534	stomach cancer		ISO	RGD:1604627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560308	Exph5	exophilin 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560308	Exph5	exophilin 5	gene	DOID:2730	epidermolysis bullosa		ISO	RGD:1604627	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1560308	Exph5	exophilin 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560308	Exph5	exophilin 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1604627	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560308	Exph5	exophilin 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560308	Exph5	exophilin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560308	Exph5	exophilin 5	gene	DOID:630	genetic disease		ISO	RGD:1604627	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1560308	Exph5	exophilin 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560308	Exph5	exophilin 5	gene	DOID:9008927	Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive		ISO	RGD:1604627	D	RGD:7240710	20140911	OMIM			
1560308	Exph5	exophilin 5	gene	DOID:9008927	Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive		ISO	RGD:1604627	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: EXPH5-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	PMID:23176819|PMID:25741868|PMID:27730671|PMID:28492532|PMID:28830826|PMID:30016581|PMID:32176379|PMID:37462267
1560309	Prrg3	proline rich and Gla domain 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560309	Prrg3	proline rich and Gla domain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560309	Prrg3	proline rich and Gla domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560313	Myo3b	myosin IIIB	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560313	Myo3b	myosin IIIB	gene	DOID:0060058	lymphoma		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560313	Myo3b	myosin IIIB	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560313	Myo3b	myosin IIIB	gene	DOID:1324	lung cancer		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560313	Myo3b	myosin IIIB	gene	DOID:1909	melanoma		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560313	Myo3b	myosin IIIB	gene	DOID:2394	ovarian cancer		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1560313	Myo3b	myosin IIIB	gene	DOID:3070	high grade glioma		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560313	Myo3b	myosin IIIB	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560313	Myo3b	myosin IIIB	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560313	Myo3b	myosin IIIB	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:10534	stomach cancer		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:1115	sarcoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:1324	lung cancer		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:1909	melanoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:2394	ovarian cancer		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:5041	esophageal cancer		ISO	RGD:1344276	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344276	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:9007661	Dwarfism		ISO	RGD:1344276	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Short stature	
1560320	Dennd4b	DENN domain containing 4B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:0060249	scoliosis		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:0060313	tracheomalacia		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:25741868
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:0060886	osteopathia striata with cranial sclerosis		ISO	RGD:1606716	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19079258
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:0060886	osteopathia striata with cranial sclerosis		ISO	RGD:1606716	D	RGD:7240710	20130925	OMIM			
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:0060886	osteopathia striata with cranial sclerosis		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMER1-related condition | ClinVar Annotator: match by term: HYPEROSTOSIS GENERALISATA WITH STRIATIONS | ClinVar Annotator: match by term: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS | ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis | ClinVar Annotator: match by term: osteopathia striata with cranial sclerosis	PMID:19079258|PMID:21498506|PMID:22043478|PMID:22716240|PMID:24033266|PMID:25741868|PMID:27369646|PMID:28492532|PMID:32879452|PMID:35101336
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:0060886	osteopathia striata with cranial sclerosis		ISS	RGD:1617499	D	RGD:13592920	20230718	MouseDO		OMIM:300373	
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:0080216	duodenal atresia		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Duodenal atresia	PMID:19079258|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:19079258|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:0111829	X-linked spinocerebellar ataxia 1		ISO	RGD:1606716	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked	PMID:26242992|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:10488	imperforate anus		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532|PMID:36474027
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:1074	kidney failure		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:19079258|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:19079258|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:12639	pyloric stenosis		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pyloric stenosis	PMID:25741868
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:19079258|PMID:21498506|PMID:22716240|PMID:24033266|PMID:25741868|PMID:27369646|PMID:32879452|PMID:35101336
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:1909	melanoma		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:2154	nephroblastoma		ISO	RGD:1606716	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:2154	nephroblastoma		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephroblastoma	PMID:19079258|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:5723	optic atrophy		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:630	genetic disease		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19079258|PMID:21498506|PMID:22716240|PMID:24033266|PMID:25741868|PMID:27369646|PMID:28492532|PMID:32879452|PMID:35101336
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:674	cleft palate		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:19079258|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:19079258|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:19079258|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:19079258|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9008945	Gram-Negative Bacterial Infections		ISO	RGD:1606716	D	RGD:151665182|PMID:30062471	20220315	RGD		associated with colorectal cancer;DNA:mutation:multiple (human)	
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606716	D	RGD:11527838|PMID:26071483	20220315	RGD		DNA:SNPs:multiple (human)	
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606716	D	RGD:150524297|PMID:28675510	20220315	RGD		mRNA:increased expression:colorectal mucosa (human)	
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606716	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606716	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532|PMID:34549727|PMID:34771502
1560322	Amer1	APC membrane recruitment protein 1	gene	DOID:9256	colorectal cancer	onset	ISO	RGD:1606716	D	RGD:151665183|PMID:31243121	20220315	RGD		DNA:mutations: (human)	
1560328	Tmem258	transmembrane protein 258	gene	DOID:5041	esophageal cancer		ISO	RGD:1351820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560328	Tmem258	transmembrane protein 258	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560328	Tmem258	transmembrane protein 258	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560331	Steap4	STEAP4 metalloreductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560331	Steap4	STEAP4 metalloreductase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347045	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1560331	Steap4	STEAP4 metalloreductase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347045	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25320179
1560331	Steap4	STEAP4 metalloreductase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560332	Lyg1	lysozyme G1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560332	Lyg1	lysozyme G1	gene	DOID:9256	colorectal cancer		ISO	RGD:1602188	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560334	Myl6b	myosin light chain 6B	gene	DOID:9000058	Keloid		ISO	RGD:1606964	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:10534	stomach cancer		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17576681|PMID:28492532|PMID:9536098
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:1115	sarcoma		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:12849	autistic disorder		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:26996948|PMID:28492532
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:1324	lung cancer		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:1389	polyneuropathy		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:1826	epilepsy		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:1909	melanoma		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:16199547|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:3275	thymoma		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:4362	cervical cancer		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:17576681|PMID:28492532|PMID:9536098
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:5041	esophageal cancer		ISO	RGD:1603213	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:630	genetic disease		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:9000343	Vision Disorders		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:9005541	autosomal recessive intellectual developmental disorder 53		ISO	RGD:1603213	D	RGD:7240710	20190315	OMIM			
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:9005541	autosomal recessive intellectual developmental disorder 53		ISO	RGD:1603213	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EMM-NULL PHENOTYPE | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY | ClinVar Annotator: match by term: PIGG-related condition	PMID:16199547|PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560335	Pigg	phosphatidylinositol glycan anchor biosynthesis, class G	gene	DOID:9256	colorectal cancer		ISO	RGD:1603213	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1560339	Lgr6	leucine-rich repeat-containing G protein-coupled receptor 6	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1353750	D	RGD:11554173	20220208	CTD		CTD Direct Evidence: marker/mechanism	PMID:32215045
1560339	Lgr6	leucine-rich repeat-containing G protein-coupled receptor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560339	Lgr6	leucine-rich repeat-containing G protein-coupled receptor 6	gene	DOID:0080600	COVID-19		ISO	RGD:1353750	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560339	Lgr6	leucine-rich repeat-containing G protein-coupled receptor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1353750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560339	Lgr6	leucine-rich repeat-containing G protein-coupled receptor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560339	Lgr6	leucine-rich repeat-containing G protein-coupled receptor 6	gene	DOID:1324	lung cancer		ISO	RGD:1353750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560339	Lgr6	leucine-rich repeat-containing G protein-coupled receptor 6	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1353750	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28945253
1560339	Lgr6	leucine-rich repeat-containing G protein-coupled receptor 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560339	Lgr6	leucine-rich repeat-containing G protein-coupled receptor 6	gene	DOID:4362	cervical cancer		ISO	RGD:1353750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560339	Lgr6	leucine-rich repeat-containing G protein-coupled receptor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560339	Lgr6	leucine-rich repeat-containing G protein-coupled receptor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560339	Lgr6	leucine-rich repeat-containing G protein-coupled receptor 6	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1353750	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:21278247
1560339	Lgr6	leucine-rich repeat-containing G protein-coupled receptor 6	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353750	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:23535733
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1312517	D	RGD:1601093|PMID:8797827	20080429	RGD		DNA:deletion, point mutation:2281delTCTC, p.R788W	
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1312517	D	RGD:7246919|PMID:22824526	20130626	RGD			
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:27607234|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:31692161|PMID:37364129|PMID:8797827|PMID:9579555|PMID:9580660
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0050453	lissencephaly		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pachygyria	PMID:17183314|PMID:25741868|PMID:26074087|PMID:28492532
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0050950	autosomal recessive cerebellar ataxia		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia	PMID:20221251|PMID:21612988|PMID:23623389|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:28492532|PMID:29325523|PMID:29892709|PMID:30165384
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0060590	XFE progeroid syndrome		ISO	RGD:1312517	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0060590	XFE progeroid syndrome		ISO	RGD:1312517	D	RGD:7240710	20130221	OMIM			
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0060590	XFE progeroid syndrome		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: XFE PROGEROID SYNDROME | ClinVar Annotator: match by term: XFE progeroid syndrome | ClinVar Annotator: match by term: XPF-ERCC1 PROGEROID SYNDROME	PMID:17183314|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623386|PMID:23623389|PMID:24027083|PMID:24033266|PMID:24412486|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26136524|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:28292785|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28878254|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:30658521|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia	PMID:23623386|PMID:25741868|PMID:28492532|PMID:9580660
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0110848	xeroderma pigmentosum group F		ISO	RGD:1312517	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0110848	xeroderma pigmentosum group F		ISO	RGD:1312517	D	RGD:7240710	20130425	OMIM			
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0110848	xeroderma pigmentosum group F		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, TYPE F | ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME | ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group f | ClinVar Annotator: match by term: Xeroderma pigmentosum, group F | ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/Cockayne syndrome	PMID:17183314|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623386|PMID:23623389|PMID:24027083|PMID:24033266|PMID:24412486|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26136524|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:28292785|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28878254|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29625052|PMID:29753700|PMID:29892709|PMID:30165384|PMID:30658521|PMID:31692161|PMID:32191290|PMID:32487094|PMID:39279228|PMID:39400928|PMID:8797827|PMID:9579555|PMID:9580660
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0110848	xeroderma pigmentosum group F		ISS	RGD:1312518	D	RGD:13592920	20230718	MouseDO		OMIM:278760	
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0111093	Fanconi anemia complementation group Q		ISO	RGD:1312517	D	RGD:7240710	20140911	OMIM			
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0111093	Fanconi anemia complementation group Q		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP Q | ClinVar Annotator: match by term: Fanconi anemia complementation group Q	PMID:17183314|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623386|PMID:23623389|PMID:24027083|PMID:24033266|PMID:24412486|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26136524|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:28292785|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28878254|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29625052|PMID:29892709|PMID:30165384|PMID:30658521|PMID:31692161|PMID:32191290|PMID:32487094|PMID:36816046|PMID:37536918|PMID:39279228|PMID:39400928|PMID:8797827|PMID:9579555|PMID:9580660
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:0111428	essential tremor 1		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1312517	D	RGD:155260342|PMID:30417012	20221004	RGD		mRNA:increased expression:stomach (human)	
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17183314|PMID:25741868|PMID:26074087|PMID:28492532
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:10907	microcephaly		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17183314|PMID:25741868|PMID:26074087|PMID:28492532|PMID:28767289
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20062074
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:11836	clubfoot		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:17183314|PMID:25741868|PMID:26074087|PMID:28492532
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:12859	choreatic disease		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:1307	dementia		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:14184	polyneuropathy due to drug	treatment	ISO	RGD:1312517	D	RGD:155260345|PMID:35135151	20221004	RGD		associated with colorectal cancer;DNA:missense mutations:CDS:p.P379S, p.E875G (rs1799802, rs1800124) (human)	
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23623389|PMID:25741868|PMID:30165384|PMID:35101336
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:1793	pancreatic cancer		ISO	RGD:1312517	D	RGD:2317223|PMID:18544627	20100322	RGD		pancreatic adenocarcinoma;DNA:SNP: :rs1800067(human)	
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:1909	melanoma		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:2355	anemia		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:2394	ovarian cancer		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1312517	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Progeroid nanism	PMID:15159313|PMID:15886521|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:31692161|PMID:32008151|PMID:32659497|PMID:32756499|PMID:8797827|PMID:9485007|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cockayne syndrome	PMID:16199547|PMID:17183314|PMID:17576681|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623386|PMID:23623389|PMID:24027083|PMID:24033266|PMID:24412486|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26136524|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:28292785|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28878254|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29625052|PMID:29892709|PMID:30165384|PMID:30658521|PMID:31692161|PMID:32034146|PMID:32191290|PMID:32487094|PMID:32868804|PMID:33084842|PMID:35171259|PMID:35477182|PMID:36139606|PMID:39279228|PMID:39400928|PMID:8797827|PMID:9536098|PMID:9579555|PMID:9580660
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:2975	cystic kidney disease		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:3459	breast carcinoma		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:4260	gait apraxia		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait apraxia	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1312517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:630	genetic disease		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32487094
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:17183314|PMID:25741868|PMID:26074087|PMID:28492532
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1312517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24036326
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1312517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19956886
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9000495	Tremor		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1312517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20372803
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9001722	Dysarthria		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive	PMID:20221251|PMID:21612988|PMID:23623389|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:28492532|PMID:29325523|PMID:29892709|PMID:30165384
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:17183314|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9002801	Recurrence		ISO	RGD:1312517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20062074
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:1312517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19956886
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9004866	Ataxia		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:17183314|PMID:25741868|PMID:26074087|PMID:28492532
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	IEP		D	RGD:7296926|PMID:22228707	20150615	RGD			
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1312517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21216194|PMID:24036326
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1312517	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:15159313|PMID:15886521|PMID:18767034|PMID:20221251|PMID:23407396|PMID:24004570|PMID:24465539|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:31692161|PMID:32008151|PMID:32659497|PMID:32756499|PMID:34117267|PMID:9485007
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9007722	Myoclonus		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1312517	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12569548
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1312517	D	RGD:155260343|PMID:16951227	20221004	RGD		mRNA:increased expression:colorectum (human)	
1560340	Ercc4	ERCC excision repair 4, endonuclease catalytic subunit	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1312517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555
1560342	Tdp2	tyrosyl-DNA phosphodiesterase 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1348894	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
1560342	Tdp2	tyrosyl-DNA phosphodiesterase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560342	Tdp2	tyrosyl-DNA phosphodiesterase 2	gene	DOID:0111613	autosomal recessive spinocerebellar ataxia 23		ISO	RGD:1348894	D	RGD:7240710	20190315	OMIM			
1560342	Tdp2	tyrosyl-DNA phosphodiesterase 2	gene	DOID:0111613	autosomal recessive spinocerebellar ataxia 23		ISO	RGD:1348894	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 23 | ClinVar Annotator: match by term: TDP2-related condition	PMID:25741868|PMID:28492532
1560342	Tdp2	tyrosyl-DNA phosphodiesterase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560342	Tdp2	tyrosyl-DNA phosphodiesterase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560342	Tdp2	tyrosyl-DNA phosphodiesterase 2	gene	DOID:630	genetic disease		ISO	RGD:1348894	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1560342	Tdp2	tyrosyl-DNA phosphodiesterase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560342	Tdp2	tyrosyl-DNA phosphodiesterase 2	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1348894	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1560342	Tdp2	tyrosyl-DNA phosphodiesterase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560342	Tdp2	tyrosyl-DNA phosphodiesterase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560344	Tfdp1	transcription factor Dp-1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560344	Tfdp1	transcription factor Dp-1	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:1346598	D	RGD:153297765|PMID:28218421	20220721	RGD		DNA:mutations:cds: (human)	
1560344	Tfdp1	transcription factor Dp-1	gene	DOID:10534	stomach cancer		ISO	RGD:1346598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560344	Tfdp1	transcription factor Dp-1	gene	DOID:1115	sarcoma		ISO	RGD:1346598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560344	Tfdp1	transcription factor Dp-1	gene	DOID:1324	lung cancer		ISO	RGD:1346598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560344	Tfdp1	transcription factor Dp-1	gene	DOID:4362	cervical cancer		ISO	RGD:1346598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560344	Tfdp1	transcription factor Dp-1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346598	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560344	Tfdp1	transcription factor Dp-1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560344	Tfdp1	transcription factor Dp-1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1346598	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1560344	Tfdp1	transcription factor Dp-1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1560344	Tfdp1	transcription factor Dp-1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560344	Tfdp1	transcription factor Dp-1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560354	Lipn	lipase, family member N	gene	DOID:0060717	autosomal recessive congenital ichthyosis 8		ISO	RGD:1349924	D	RGD:7240710	20140911	OMIM			
1560354	Lipn	lipase, family member N	gene	DOID:0060717	autosomal recessive congenital ichthyosis 8		ISO	RGD:1349924	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 | ClinVar Annotator: match by term: LIPN-related condition	PMID:25741868|PMID:28492532
1560354	Lipn	lipase, family member N	gene	DOID:1324	lung cancer		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560354	Lipn	lipase, family member N	gene	DOID:3275	thymoma		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560354	Lipn	lipase, family member N	gene	DOID:4362	cervical cancer		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560354	Lipn	lipase, family member N	gene	DOID:5041	esophageal cancer		ISO	RGD:1349924	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560354	Lipn	lipase, family member N	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560354	Lipn	lipase, family member N	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560355	Lypd5	Ly6/Plaur domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1604488	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560355	Lypd5	Ly6/Plaur domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1604488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560355	Lypd5	Ly6/Plaur domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1604488	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560355	Lypd5	Ly6/Plaur domain containing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560355	Lypd5	Ly6/Plaur domain containing 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560355	Lypd5	Ly6/Plaur domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:3275	thymoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345566	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560358	Ccar1	cell division cycle and apoptosis regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1345566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:0060894	early-onset Parkinson's disease		ISO	RGD:1348377	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Young-onset Parkinson disease	PMID:25741868|PMID:26942284
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:0060896	Parkinson's disease 23		ISO	RGD:1348377	D	RGD:7240710	20190315	OMIM			
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:0060896	Parkinson's disease 23		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 23 | ClinVar Annotator: match by term: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET | ClinVar Annotator: match by term: VPS13C-related condition	PMID:25741868|PMID:26942284|PMID:28492532|PMID:32707456|PMID:33579389|PMID:34875562
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:10534	stomach cancer		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:1115	sarcoma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:1324	lung cancer		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:14330	Parkinson's disease		ISO	RGD:1348377	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Parkinson disease	PMID:25741868|PMID:26942284
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:1909	melanoma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:3070	high grade glioma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:3275	thymoma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:4362	cervical cancer		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:5041	esophageal cancer		ISO	RGD:1348377	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:630	genetic disease		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:9003566	Mesothelioma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560364	Vps13c	vacuolar protein sorting 13 homolog C	gene	DOID:9256	colorectal cancer		ISO	RGD:1348377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1560367	Rbm6	RNA binding motif protein 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560367	Rbm6	RNA binding motif protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560367	Rbm6	RNA binding motif protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:1342651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560367	Rbm6	RNA binding motif protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560367	Rbm6	RNA binding motif protein 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560367	Rbm6	RNA binding motif protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1342651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560367	Rbm6	RNA binding motif protein 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560367	Rbm6	RNA binding motif protein 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560367	Rbm6	RNA binding motif protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560367	Rbm6	RNA binding motif protein 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560367	Rbm6	RNA binding motif protein 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1342651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1560367	Rbm6	RNA binding motif protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560368	Map9	microtubule-associated protein 9	gene	DOID:10534	stomach cancer		ISO	RGD:1605620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560368	Map9	microtubule-associated protein 9	gene	DOID:1324	lung cancer		ISO	RGD:1605620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560368	Map9	microtubule-associated protein 9	gene	DOID:3275	thymoma		ISO	RGD:1605620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560368	Map9	microtubule-associated protein 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560368	Map9	microtubule-associated protein 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1605620	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560368	Map9	microtubule-associated protein 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560368	Map9	microtubule-associated protein 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560368	Map9	microtubule-associated protein 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560370	Ccdc183	coiled-coil domain containing 183	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1350546	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1560373	Il10rb	interleukin 10 receptor subunit beta	gene	DOID:0080600	COVID-19		ISO	RGD:1345772	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:35255492
1560373	Il10rb	interleukin 10 receptor subunit beta	gene	DOID:0081267	graft-versus-host disease	disease_progression	ISO	RGD:1345772	D	RGD:11046269|PMID:19409109	20160404	RGD		DNA:SNP: :rs28341676 (human)	
1560373	Il10rb	interleukin 10 receptor subunit beta	gene	DOID:0110909	inflammatory bowel disease 25		ISO	RGD:1345772	D	RGD:11554173	20230711	CTD		CTD Direct Evidence: marker/mechanism	
1560373	Il10rb	interleukin 10 receptor subunit beta	gene	DOID:0110909	inflammatory bowel disease 25		ISO	RGD:1345772	D	RGD:7240710	20260610	OMIM			
1560373	Il10rb	interleukin 10 receptor subunit beta	gene	DOID:0110909	inflammatory bowel disease 25		ISO	RGD:1345772	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease 25	PMID:22549091|PMID:28492532|PMID:30365510
1560373	Il10rb	interleukin 10 receptor subunit beta	gene	DOID:2043	hepatitis B		ISO	RGD:1345772	D	RGD:11554173	20230711	CTD		CTD Direct Evidence: marker/mechanism	
1560373	Il10rb	interleukin 10 receptor subunit beta	gene	DOID:2043	hepatitis B		ISO	RGD:1345772	D	RGD:7240710	20260610	OMIM			
1560373	Il10rb	interleukin 10 receptor subunit beta	gene	DOID:2316	brain ischemia		ISO	RGD:1345772	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914
1560373	Il10rb	interleukin 10 receptor subunit beta	gene	DOID:8677	perinatal necrotizing enterocolitis		IEP		D	RGD:5490305|PMID:21240009	20120321	RGD		protein:increased expression:ileum	
1560377	Snapin	SNAP-associated protein	gene	DOID:0070714	neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities		ISO	RGD:1351269	D	RGD:7240710	20260603	OMIM			
1560377	Snapin	SNAP-associated protein	gene	DOID:0070714	neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities		ISO	RGD:1351269	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ABNORMALITIES AND CRANIOFACIAL ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities	PMID:25741868|PMID:26539891
1560377	Snapin	SNAP-associated protein	gene	DOID:0080600	COVID-19		ISO	RGD:1351269	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560377	Snapin	SNAP-associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1351269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560377	Snapin	SNAP-associated protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1351269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1560383	Krt222	keratin 222	gene	DOID:1909	melanoma		ISO	RGD:1606170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560383	Krt222	keratin 222	gene	DOID:3275	thymoma		ISO	RGD:1606170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560383	Krt222	keratin 222	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560383	Krt222	keratin 222	gene	DOID:4362	cervical cancer		ISO	RGD:1606170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560383	Krt222	keratin 222	gene	DOID:9003566	Mesothelioma		ISO	RGD:1606170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1560384	Prdm10	PR/SET domain 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560384	Prdm10	PR/SET domain 10	gene	DOID:0050676	Birt-Hogg-Dube syndrome		ISO	RGD:1348926	D	RGD:7240710	20230802	OMIM			
1560384	Prdm10	PR/SET domain 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560384	Prdm10	PR/SET domain 10	gene	DOID:10534	stomach cancer		ISO	RGD:1348926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560384	Prdm10	PR/SET domain 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560384	Prdm10	PR/SET domain 10	gene	DOID:1324	lung cancer		ISO	RGD:1348926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560384	Prdm10	PR/SET domain 10	gene	DOID:1909	melanoma		ISO	RGD:1348926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560384	Prdm10	PR/SET domain 10	gene	DOID:3275	thymoma		ISO	RGD:1348926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560384	Prdm10	PR/SET domain 10	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560384	Prdm10	PR/SET domain 10	gene	DOID:4362	cervical cancer		ISO	RGD:1348926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560384	Prdm10	PR/SET domain 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1348926	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560384	Prdm10	PR/SET domain 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560384	Prdm10	PR/SET domain 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560384	Prdm10	PR/SET domain 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560384	Prdm10	PR/SET domain 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:0050591	tooth agenesis		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth agenesis	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:0050840	cervical dystonia		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351632	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1351632	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:28220687
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:0080600	COVID-19		ISO	RGD:1351632	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:1059	intellectual disability		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25017102|PMID:25741868|PMID:28492532|PMID:29737001|PMID:32266967|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:10908	hydrocephalus		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:1115	sarcoma		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:11383	cryptorchidism		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:11830	myopia		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:12215	oligohydramnios		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:12849	autistic disorder		ISO	RGD:1351632	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:1596	depressive disorder		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:2030	anxiety disorder		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:3275	thymoma		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:535	sleep disorder		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:630	genetic disease		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10940247|PMID:25017102|PMID:25741868|PMID:28492532|PMID:32565546
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1351632	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22037551
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9001681	Primrose Syndrome		ISO	RGD:1351632	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25017102
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9001681	Primrose Syndrome		ISO	RGD:1351632	D	RGD:7240710	20171011	OMIM			
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9001681	Primrose Syndrome		ISO	RGD:1351632	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PRIMROSE SYNDROME | ClinVar Annotator: match by term: Primrose syndrome | ClinVar Annotator: match by term: ZBTB20-related condition	PMID:25017102|PMID:25741868|PMID:27061120|PMID:28327206|PMID:28462983|PMID:28492532|PMID:29737001|PMID:31321892|PMID:31821719|PMID:32071410|PMID:32266967|PMID:32473227|PMID:38177409|PMID:6809950
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351632	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28319090
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9003816	Macrocephaly		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351632	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9004538	Hearing Loss		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing loss	PMID:25017102|PMID:25741868|PMID:29737001|PMID:32266967
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1351632	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9007661	Dwarfism		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9007917	Supernumerary Tooth		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teeth, supernumerary	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9008023	Memory Disorders		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9834	hyperopia		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:38177409
1560387	Zbtb20	zinc finger and BTB domain containing 20	gene	DOID:9970	obesity		ISO	RGD:1351632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:38177409
1560391	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560391	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560391	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:1909	melanoma		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560391	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:3275	thymoma		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560391	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560391	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560391	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321019	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560391	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560391	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560391	Gabpb1	GA binding protein transcription factor subunit beta 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560392	Gtf3c2	general transcription factor IIIC subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560392	Gtf3c2	general transcription factor IIIC subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560392	Gtf3c2	general transcription factor IIIC subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560392	Gtf3c2	general transcription factor IIIC subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1343562	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560392	Gtf3c2	general transcription factor IIIC subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1343562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560392	Gtf3c2	general transcription factor IIIC subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560392	Gtf3c2	general transcription factor IIIC subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343562	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560392	Gtf3c2	general transcription factor IIIC subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560392	Gtf3c2	general transcription factor IIIC subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560392	Gtf3c2	general transcription factor IIIC subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560393	Armc1	armadillo repeat containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560393	Armc1	armadillo repeat containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560393	Armc1	armadillo repeat containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1343337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560393	Armc1	armadillo repeat containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1343337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560393	Armc1	armadillo repeat containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560393	Armc1	armadillo repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560393	Armc1	armadillo repeat containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560394	Nicol1	NELL2 interacting cell ontogeny regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:2301122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560394	Nicol1	NELL2 interacting cell ontogeny regulator 1	gene	DOID:2394	ovarian cancer		ISO	RGD:2301122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1560394	Nicol1	NELL2 interacting cell ontogeny regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2301122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560394	Nicol1	NELL2 interacting cell ontogeny regulator 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2301122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560395	Lrrc72	leucine rich repeat containing 72	gene	DOID:234	colon adenocarcinoma		ISO	RGD:5508492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560397	Msi2	musashi RNA-binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560397	Msi2	musashi RNA-binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560397	Msi2	musashi RNA-binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560397	Msi2	musashi RNA-binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560397	Msi2	musashi RNA-binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1352746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560397	Msi2	musashi RNA-binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1352746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560397	Msi2	musashi RNA-binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1352746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560397	Msi2	musashi RNA-binding protein 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560397	Msi2	musashi RNA-binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560397	Msi2	musashi RNA-binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560397	Msi2	musashi RNA-binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560397	Msi2	musashi RNA-binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560397	Msi2	musashi RNA-binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560398	C12h12orf76	similar to human chromosome 12 open reading frame 76	gene	DOID:1115	sarcoma		ISO	RGD:1604429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560398	C12h12orf76	similar to human chromosome 12 open reading frame 76	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560398	C12h12orf76	similar to human chromosome 12 open reading frame 76	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560399	Rnf182	ring finger protein 182	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560399	Rnf182	ring finger protein 182	gene	DOID:10534	stomach cancer		ISO	RGD:1351673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560399	Rnf182	ring finger protein 182	gene	DOID:1909	melanoma		ISO	RGD:1351673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560399	Rnf182	ring finger protein 182	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560399	Rnf182	ring finger protein 182	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1351673	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
1560399	Rnf182	ring finger protein 182	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1351673	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
1560401	Reep3	receptor accessory protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560401	Reep3	receptor accessory protein 3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1603350	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1560401	Reep3	receptor accessory protein 3	gene	DOID:12849	autistic disorder		ISO	RGD:1603350	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17290275
1560401	Reep3	receptor accessory protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1603350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560401	Reep3	receptor accessory protein 3	gene	DOID:1909	melanoma		ISO	RGD:1603350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560401	Reep3	receptor accessory protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603350	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560401	Reep3	receptor accessory protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560401	Reep3	receptor accessory protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:0050694	Brown-Vialetto-Van Laere syndrome		ISO	RGD:1349767	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:0050694	Brown-Vialetto-Van Laere syndrome		ISO	RGD:1349767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PONTOBULBAR PALSY WITH DEAFNESS	PMID:24253200|PMID:25741868|PMID:27148561|PMID:28492532
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:0080785	Brown-Vialetto-Van Laere syndrome 1		ISO	RGD:1349767	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1	PMID:24253200|PMID:25741868|PMID:27148561|PMID:28492532
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:0080786	Brown-Vialetto-Van Laere syndrome 2		ISO	RGD:1349767	D	RGD:7240710	20140903	OMIM			
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:0080786	Brown-Vialetto-Van Laere syndrome 2		ISO	RGD:1349767	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 | ClinVar Annotator: match by term: Riboflavin transporter deficiency type 2 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH BLINDNESS AND DEAFNESS 2 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3	PMID:10797435|PMID:11175288|PMID:16199547|PMID:17576681|PMID:22740598|PMID:22824638|PMID:22864630|PMID:23243084|PMID:23506902|PMID:24033266|PMID:24253200|PMID:24616084|PMID:25133958|PMID:25356970|PMID:25741868|PMID:25798182|PMID:25807286|PMID:26633542|PMID:26669662|PMID:27148561|PMID:27518768|PMID:28116953|PMID:28251916|PMID:28492532|PMID:28781516|PMID:29053833|PMID:29287867|PMID:29858556|PMID:29913018|PMID:29915382|PMID:29961509|PMID:30343981|PMID:30377535|PMID:31064337|PMID:31152317|PMID:32827528|PMID:33036493|PMID:33201363|PMID:33258288|PMID:34428344|PMID:34602496|PMID:39825153|PMID:9536098
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:0080786	Brown-Vialetto-Van Laere syndrome 2		ISO	RGD:1349767	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BROWN-VIALETTO-VAN LAERE SYNDROME 2 | ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 | ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 | ClinVar Annotator: match by term: Riboflavin transporter deficiency type 2 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH BLINDNESS AND DEAFNESS 2	PMID:16199547|PMID:17576681|PMID:22740598|PMID:22824638|PMID:22864630|PMID:23243084|PMID:24033266|PMID:24253200|PMID:24616084|PMID:25133958|PMID:25356970|PMID:25741868|PMID:25798182|PMID:25807286|PMID:26633542|PMID:26669662|PMID:27148561|PMID:27518768|PMID:28116953|PMID:28251916|PMID:28492532|PMID:28781516|PMID:29053833|PMID:29287867|PMID:29858556|PMID:29915382|PMID:29961509|PMID:30343981|PMID:31064337|PMID:31152317|PMID:32827528|PMID:33036493|PMID:33258288|PMID:34428344|PMID:38941880|PMID:9536098
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:0110535	autosomal recessive nonsyndromic deafness 9		ISO	RGD:1349767	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder	
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1349767	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:1115	sarcoma		ISO	RGD:1349767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:1909	melanoma		ISO	RGD:1349767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:1349767	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	PMID:22864630
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:5723	optic atrophy		ISO	RGD:1349767	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:22864630
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:630	genetic disease		ISO	RGD:1349767	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22864630|PMID:24033266|PMID:24253200|PMID:25356970|PMID:25741868|PMID:25798182|PMID:25807286|PMID:27148561|PMID:27518768|PMID:28116953|PMID:28251916|PMID:28492532|PMID:28781516|PMID:29053833|PMID:29915382|PMID:29961509|PMID:33036493|PMID:33258288|PMID:34428344|PMID:38941880
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1349767	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:22864630
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:9004866	Ataxia		ISO	RGD:1349767	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:22864630
1560410	Slc52a2	solute carrier family 52 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560411	Tspan18	tetraspanin 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560411	Tspan18	tetraspanin 18	gene	DOID:1115	sarcoma		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560411	Tspan18	tetraspanin 18	gene	DOID:1324	lung cancer		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560411	Tspan18	tetraspanin 18	gene	DOID:1909	melanoma		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560411	Tspan18	tetraspanin 18	gene	DOID:4362	cervical cancer		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560411	Tspan18	tetraspanin 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1605907	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560411	Tspan18	tetraspanin 18	gene	DOID:5419	schizophrenia		ISO	RGD:1605907	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22037552
1560411	Tspan18	tetraspanin 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560411	Tspan18	tetraspanin 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560411	Tspan18	tetraspanin 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560420	Amer3	APC membrane recruitment protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560420	Amer3	APC membrane recruitment protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1601927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560420	Amer3	APC membrane recruitment protein 3	gene	DOID:9008189	Pyelectasis		ISO	RGD:1601927	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: pyelectasis	PMID:32641753
1560421	Nemp2	nuclear envelope integral membrane protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560421	Nemp2	nuclear envelope integral membrane protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2293905	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560421	Nemp2	nuclear envelope integral membrane protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560421	Nemp2	nuclear envelope integral membrane protein 2	gene	DOID:1115	sarcoma		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560421	Nemp2	nuclear envelope integral membrane protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560421	Nemp2	nuclear envelope integral membrane protein 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1560421	Nemp2	nuclear envelope integral membrane protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560424	Padi6	peptidyl arginine deiminase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560424	Padi6	peptidyl arginine deiminase 6	gene	DOID:1324	lung cancer		ISO	RGD:1354366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560424	Padi6	peptidyl arginine deiminase 6	gene	DOID:1924	hypogonadism		ISO	RGD:1354366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:31042289
1560424	Padi6	peptidyl arginine deiminase 6	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1354366	D	RGD:8554872	20210309	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:31042289
1560424	Padi6	peptidyl arginine deiminase 6	gene	DOID:630	genetic disease		ISO	RGD:1354366	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1560424	Padi6	peptidyl arginine deiminase 6	gene	DOID:9000708	Oocyte/Zygote/Embryo Maturation Arrest 16		ISO	RGD:1354366	D	RGD:7240710	20190315	OMIM			
1560424	Padi6	peptidyl arginine deiminase 6	gene	DOID:9000708	Oocyte/Zygote/Embryo Maturation Arrest 16		ISO	RGD:1354366	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16 | ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 16 | ClinVar Annotator: match by term: PADI6-related condition	PMID:17587491|PMID:18599511|PMID:25741868|PMID:27545678|PMID:34987164|PMID:37778376
1560424	Padi6	peptidyl arginine deiminase 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560432	Glt8d2	glycosyltransferase 8 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560432	Glt8d2	glycosyltransferase 8 domain containing 2	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1353062	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1560432	Glt8d2	glycosyltransferase 8 domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560432	Glt8d2	glycosyltransferase 8 domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1353062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560433	Rint1	RAD50 interactor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560433	Rint1	RAD50 interactor 1	gene	DOID:11830	myopia		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1560433	Rint1	RAD50 interactor 1	gene	DOID:1324	lung cancer		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560433	Rint1	RAD50 interactor 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:27544226|PMID:28492532
1560433	Rint1	RAD50 interactor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1605055	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: familial ovarian cancer	PMID:25050558|PMID:25741868|PMID:28492532|PMID:31204009|PMID:32283892|PMID:33099839
1560433	Rint1	RAD50 interactor 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868|PMID:27544226|PMID:28492532
1560433	Rint1	RAD50 interactor 1	gene	DOID:3459	breast carcinoma		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:27544226|PMID:28492532
1560433	Rint1	RAD50 interactor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560433	Rint1	RAD50 interactor 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605055	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25050558|PMID:25741868|PMID:28492532|PMID:32566746
1560433	Rint1	RAD50 interactor 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605055	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532|PMID:31204009|PMID:32566746
1560433	Rint1	RAD50 interactor 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:25741868|PMID:28492532|PMID:32566746
1560433	Rint1	RAD50 interactor 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605055	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:25741868|PMID:28492532
1560433	Rint1	RAD50 interactor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560433	Rint1	RAD50 interactor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560433	Rint1	RAD50 interactor 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1560433	Rint1	RAD50 interactor 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:27544226|PMID:28492532
1560433	Rint1	RAD50 interactor 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:27544226|PMID:28492532
1560433	Rint1	RAD50 interactor 1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
1560433	Rint1	RAD50 interactor 1	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:25741868|PMID:28492532|PMID:31204009
1560433	Rint1	RAD50 interactor 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1560433	Rint1	RAD50 interactor 1	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
1560433	Rint1	RAD50 interactor 1	gene	DOID:9006741	Acute Hepatitis		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute hepatitis	PMID:25741868
1560433	Rint1	RAD50 interactor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605055	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Nonmedullary thyroid carcinoma 1	PMID:16199547|PMID:25741868|PMID:28492532|PMID:31204009|PMID:33471991
1560433	Rint1	RAD50 interactor 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605055	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:26928227|PMID:27544226|PMID:28166811|PMID:28492532|PMID:31173646|PMID:31204009|PMID:31567591|PMID:32566746|PMID:33471991|PMID:9536098
1560433	Rint1	RAD50 interactor 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605055	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:26928227|PMID:27544226|PMID:28166811|PMID:28492532|PMID:31173646|PMID:31204009|PMID:31567591|PMID:32283892|PMID:32566746|PMID:33099839|PMID:33471991|PMID:9536098
1560433	Rint1	RAD50 interactor 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605055	D	RGD:8554872	20240514	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25050558|PMID:25741868|PMID:28492532|PMID:32566746
1560433	Rint1	RAD50 interactor 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605055	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	
1560433	Rint1	RAD50 interactor 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1560433	Rint1	RAD50 interactor 1	gene	DOID:9007736	Vertigo		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:27544226|PMID:28492532
1560433	Rint1	RAD50 interactor 1	gene	DOID:9008663	Infantile Liver Failure Syndrome 3		ISO	RGD:1605055	D	RGD:7240710	20191030	OMIM			
1560433	Rint1	RAD50 interactor 1	gene	DOID:9008663	Infantile Liver Failure Syndrome 3		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INFANTILE LIVER FAILURE SYNDROME 3 | ClinVar Annotator: match by term: Infantile liver failure syndrome 3 | ClinVar Annotator: match by term: RINT1-related condition	PMID:25741868|PMID:27544226|PMID:28492532|PMID:31204009
1560433	Rint1	RAD50 interactor 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1605055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:31204009
1560436	Airim	AFG2 interacting ribosome maturation factor	gene	DOID:4362	cervical cancer		ISO	RGD:1606277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560436	Airim	AFG2 interacting ribosome maturation factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560436	Airim	AFG2 interacting ribosome maturation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560436	Airim	AFG2 interacting ribosome maturation factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1606277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1560436	Airim	AFG2 interacting ribosome maturation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560436	Airim	AFG2 interacting ribosome maturation factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560453	Ca13	carbonic anhydrase 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560453	Ca13	carbonic anhydrase 13	gene	DOID:1115	sarcoma		ISO	RGD:1322168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560453	Ca13	carbonic anhydrase 13	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560453	Ca13	carbonic anhydrase 13	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560453	Ca13	carbonic anhydrase 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1322168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560453	Ca13	carbonic anhydrase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560453	Ca13	carbonic anhydrase 13	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1560453	Ca13	carbonic anhydrase 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560453	Ca13	carbonic anhydrase 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560453	Ca13	carbonic anhydrase 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560456	Ct55	cancer/testis antigen 55	gene	DOID:0070598	X-linked spermatogenic failure 7		ISO	RGD:1353544	D	RGD:7240710	20230505	OMIM			
1560456	Ct55	cancer/testis antigen 55	gene	DOID:0070598	X-linked spermatogenic failure 7		ISO	RGD:1353544	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 7	
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1607035	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T		ISO	RGD:1607035	D	RGD:7240710	20140911	OMIM			
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2T | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14	PMID:16199547|PMID:17576681|PMID:23768512|PMID:23894383|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:28433477|PMID:28492532|PMID:28554332|PMID:28914264|PMID:29437916|PMID:30126629|PMID:30257713|PMID:31378432|PMID:32115343|PMID:33060286|PMID:33756069|PMID:34008892|PMID:34333724|PMID:35006422|PMID:37853563|PMID:9536098
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0111233	congenital muscular dystrophy-dystroglycanopathy type A14		ISO	RGD:1607035	D	RGD:7240710	20140911	OMIM			
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0111233	congenital muscular dystrophy-dystroglycanopathy type A14		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	PMID:16199547|PMID:17576681|PMID:23768512|PMID:23894383|PMID:25681410|PMID:25741868|PMID:26133662|PMID:26310427|PMID:27766311|PMID:28433477|PMID:28492532|PMID:28554332|PMID:28914264|PMID:29437916|PMID:30126629|PMID:30257713|PMID:31378432|PMID:33060286|PMID:33756069|PMID:34333724|PMID:35006422|PMID:37853563|PMID:9536098
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0112374	muscular dystrophy-dystroglycanopathy		ISO	RGD:1607035	D	RGD:11530903|PMID:26310427	20180627	RGD		DNA:mutations: cds:multiple	
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0112374	muscular dystrophy-dystroglycanopathy		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy	PMID:23768512|PMID:25741868|PMID:26310427|PMID:27766311|PMID:28492532|PMID:29437916|PMID:30257713|PMID:33060286
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0112377	muscular dystrophy-dystroglycanopathy type B14		ISO	RGD:1607035	D	RGD:7240710	20140911	OMIM			
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:0112377	muscular dystrophy-dystroglycanopathy type B14		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	PMID:17576681|PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:26310427|PMID:27766311|PMID:28492532|PMID:29437916|PMID:30257713|PMID:33060286|PMID:34333724|PMID:35006422|PMID:9536098
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:10376	amblyopia		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:23768512|PMID:25681410|PMID:25741868|PMID:28492532|PMID:28554332|PMID:30257713
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:10534	stomach cancer		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:1059	intellectual disability		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:12849	autistic disorder		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:1826	epilepsy		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28433477|PMID:28492532|PMID:29437916|PMID:34333724
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:1909	melanoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:4362	cervical cancer		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:630	genetic disease		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:26310427|PMID:27766311|PMID:28492532|PMID:29437916|PMID:30257713|PMID:33060286|PMID:34333724|PMID:9536098
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Progressive muscle weakness	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9007661	Dwarfism		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23768512|PMID:25681410|PMID:25741868|PMID:28492532|PMID:28554332|PMID:30257713
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9840	esotropia		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:23768512|PMID:25681410|PMID:25741868|PMID:28492532|PMID:28554332|PMID:30257713
1560458	Gmppb	GDP-mannose pyrophosphorylase B	gene	DOID:9884	muscular dystrophy		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
1560459	Gltpd2	glycolipid transfer protein domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560459	Gltpd2	glycolipid transfer protein domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560459	Gltpd2	glycolipid transfer protein domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560459	Gltpd2	glycolipid transfer protein domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560459	Gltpd2	glycolipid transfer protein domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560459	Gltpd2	glycolipid transfer protein domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560459	Gltpd2	glycolipid transfer protein domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560468	Otud3	OTU deubiquitinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560468	Otud3	OTU deubiquitinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1604042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560468	Otud3	OTU deubiquitinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560468	Otud3	OTU deubiquitinase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560468	Otud3	OTU deubiquitinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560468	Otud3	OTU deubiquitinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560468	Otud3	OTU deubiquitinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560470	Ajm1	apical junction component 1 homolog	gene	DOID:0080600	COVID-19		ISO	RGD:3302853	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560471	Arhgef37	Rho guanine nucleotide exchange factor 37	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560471	Arhgef37	Rho guanine nucleotide exchange factor 37	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560471	Arhgef37	Rho guanine nucleotide exchange factor 37	gene	DOID:0060058	lymphoma		ISO	RGD:1602402	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560471	Arhgef37	Rho guanine nucleotide exchange factor 37	gene	DOID:10534	stomach cancer		ISO	RGD:1602402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560471	Arhgef37	Rho guanine nucleotide exchange factor 37	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560471	Arhgef37	Rho guanine nucleotide exchange factor 37	gene	DOID:1115	sarcoma		ISO	RGD:1602402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560471	Arhgef37	Rho guanine nucleotide exchange factor 37	gene	DOID:4362	cervical cancer		ISO	RGD:1602402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560471	Arhgef37	Rho guanine nucleotide exchange factor 37	gene	DOID:5041	esophageal cancer		ISO	RGD:1602402	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560471	Arhgef37	Rho guanine nucleotide exchange factor 37	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560471	Arhgef37	Rho guanine nucleotide exchange factor 37	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560479	Sobp	sine oculis binding protein homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560479	Sobp	sine oculis binding protein homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560479	Sobp	sine oculis binding protein homolog	gene	DOID:1909	melanoma		ISO	RGD:1605982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560479	Sobp	sine oculis binding protein homolog	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1605982	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1560479	Sobp	sine oculis binding protein homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1605982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560479	Sobp	sine oculis binding protein homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560479	Sobp	sine oculis binding protein homolog	gene	DOID:9004901	Impaired intellectual development, anterior maxillary protrusion, and strabismus		ISO	RGD:1605982	D	RGD:7240710	20130221	OMIM			
1560479	Sobp	sine oculis binding protein homolog	gene	DOID:9004901	Impaired intellectual development, anterior maxillary protrusion, and strabismus		ISO	RGD:1605982	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus | ClinVar Annotator: match by term: SOBP-related condition	PMID:25741868
1560480	Fezf1	Fez family zinc finger 1	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1604689	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1560480	Fezf1	Fez family zinc finger 1	gene	DOID:0090081	hypogonadotropic hypogonadism 22 with or without anosmia		ISO	RGD:1604689	D	RGD:7240710	20160615	OMIM			
1560480	Fezf1	Fez family zinc finger 1	gene	DOID:0090081	hypogonadotropic hypogonadism 22 with or without anosmia		ISO	RGD:1604689	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FEZF1-related condition | ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 22 WITH ANOSMIA	PMID:25741868|PMID:28492532
1560480	Fezf1	Fez family zinc finger 1	gene	DOID:13938	amenorrhea		ISO	RGD:1604689	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:32870266
1560480	Fezf1	Fez family zinc finger 1	gene	DOID:630	genetic disease		ISO	RGD:1604689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1560481	Esrp1	epithelial splicing regulatory protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560481	Esrp1	epithelial splicing regulatory protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560481	Esrp1	epithelial splicing regulatory protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1606552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560481	Esrp1	epithelial splicing regulatory protein 1	gene	DOID:0111639	autosomal recessive nonsyndromic deafness 109		ISO	RGD:1606552	D	RGD:7240710	20190315	OMIM			
1560481	Esrp1	epithelial splicing regulatory protein 1	gene	DOID:0111639	autosomal recessive nonsyndromic deafness 109		ISO	RGD:1606552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ESRP1-related condition	PMID:25741868
1560481	Esrp1	epithelial splicing regulatory protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560481	Esrp1	epithelial splicing regulatory protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1606552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560481	Esrp1	epithelial splicing regulatory protein 1	gene	DOID:3275	thymoma		ISO	RGD:1606552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560481	Esrp1	epithelial splicing regulatory protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560481	Esrp1	epithelial splicing regulatory protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606552	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560481	Esrp1	epithelial splicing regulatory protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560481	Esrp1	epithelial splicing regulatory protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560481	Esrp1	epithelial splicing regulatory protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560481	Esrp1	epithelial splicing regulatory protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560482	Pcdhgb1	protocadherin gamma subfamily B, 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349950	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1560487	Clec12b	C-type lectin domain family 12, member B	gene	DOID:0080600	COVID-19		ISO	RGD:1605796	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560491	Ids	iduronate 2-sulfatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:0050847	sleep apnea		ISO	RGD:1351665	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:0060249	scoliosis		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:36907694|PMID:36980980
1560491	Ids	iduronate 2-sulfatase	gene	DOID:0060320	inguinal hernia		ISO	RGD:1351665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:0111390	mucopolysaccharidosis Ih		ISO	RGD:1351665	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysostosis multiplex	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:0111395	mucopolysaccharidosis type IIIA		ISO	RGD:1351665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA | ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A)	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:12048688|PMID:1284597|PMID:1303211|PMID:15614569|PMID:16133661|PMID:16480701|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17391447|PMID:18414213|PMID:18500569|PMID:19573456|PMID:21108396|PMID:21291454|PMID:21829674|PMID:21834048|PMID:22976768|PMID:22976778|PMID:23232253|PMID:24125893|PMID:24515576|PMID:24780617|PMID:24798265|PMID:25741868|PMID:25976201|PMID:26407519|PMID:26897145|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27848944|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:29095814|PMID:29671225|PMID:29801497|PMID:29966168|PMID:30639582|PMID:30809705|PMID:31877959|PMID:33676511|PMID:33960103|PMID:34670126|PMID:34813777|PMID:35144014|PMID:35225932|PMID:35614200|PMID:35887520|PMID:36713083|PMID:36907694|PMID:36945845|PMID:38053932|PMID:39077064|PMID:39803987|PMID:7581397|PMID:7599640|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8554071|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9573369|PMID:9660053|PMID:9875019|PMID:9921913|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:0111395	mucopolysaccharidosis type IIIA		ISO	RGD:1351665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA | ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A)	PMID:10215411|PMID:10447264|PMID:11683780|PMID:12048688|PMID:1284597|PMID:15614569|PMID:16133661|PMID:16480701|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17391447|PMID:18414213|PMID:18500569|PMID:19573456|PMID:21291454|PMID:21829674|PMID:21834048|PMID:22976768|PMID:22976778|PMID:24125893|PMID:24515576|PMID:24780617|PMID:24798265|PMID:25741868|PMID:25976201|PMID:26407519|PMID:26897145|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27848944|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:29095814|PMID:29671225|PMID:29801497|PMID:29966168|PMID:30639582|PMID:30809705|PMID:31877959|PMID:33676511|PMID:33960103|PMID:34670126|PMID:34813777|PMID:35144014|PMID:35225932|PMID:35614200|PMID:35887520|PMID:36713083|PMID:36907694|PMID:36945845|PMID:38053932|PMID:39077064|PMID:39803987|PMID:7599640|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8554071|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9501270|PMID:9573369|PMID:9660053|PMID:9875019|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:1059	intellectual disability		ISO	RGD:1351665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:36907694|PMID:36980980|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:1115	sarcoma		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560491	Ids	iduronate 2-sulfatase	gene	DOID:12799	mucopolysaccharidosis II		ISO	RGD:1351665	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560491	Ids	iduronate 2-sulfatase	gene	DOID:12799	mucopolysaccharidosis II		ISO	RGD:1351665	D	RGD:12910721|PMID:27146977	20170621	RGD		DNA:mutations:exon, intron:multiple	
1560491	Ids	iduronate 2-sulfatase	gene	DOID:12799	mucopolysaccharidosis II		ISO	RGD:1351665	D	RGD:1599819|PMID:1550586	20070216	RGD			
1560491	Ids	iduronate 2-sulfatase	gene	DOID:12799	mucopolysaccharidosis II		ISO	RGD:1351665	D	RGD:7240710	20130221	OMIM			
1560491	Ids	iduronate 2-sulfatase	gene	DOID:12799	mucopolysaccharidosis II		ISO	RGD:1351665	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form	PMID:10215411|PMID:10220152|PMID:10671065|PMID:10738003|PMID:10814710|PMID:10838181|PMID:11452244|PMID:11462244|PMID:11683780|PMID:11731225|PMID:12572848|PMID:12794697|PMID:1284597|PMID:1303211|PMID:1355630|PMID:14728992|PMID:1550586|PMID:15614569|PMID:16133661|PMID:16199547|PMID:1639384|PMID:16480701|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17284421|PMID:17343270|PMID:17391447|PMID:17576681|PMID:17655837|PMID:18414213|PMID:18500569|PMID:1906048|PMID:19573456|PMID:20104590|PMID:20301451|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22153556|PMID:22190500|PMID:22286622|PMID:22492741|PMID:22912587|PMID:22976768|PMID:22976778|PMID:22990955|PMID:23430829|PMID:24125893|PMID:24268528|PMID:24454794|PMID:24515576|PMID:24780617|PMID:24875751|PMID:25038527|PMID:25640679|PMID:25681085|PMID:25741868|PMID:25976201|PMID:26407519|PMID:26693516|PMID:26752647|PMID:26762690|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27848944|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:28593992|PMID:29801497|PMID:30409495|PMID:30639582|PMID:30755392|PMID:30809705|PMID:31732130|PMID:31877959|PMID:31895584|PMID:32005694|PMID:32014045|PMID:33075783|PMID:33096603|PMID:33117908|PMID:33124617|PMID:33622387|PMID:33676511|PMID:33960103|PMID:34670126|PMID:34813777|PMID:35005816|PMID:35144014|PMID:35242576|PMID:35916809|PMID:36945845|PMID:7581397|PMID:7728156|PMID:7814022|PMID:7866405|PMID:7887413|PMID:8111411|PMID:8318991|PMID:8364592|PMID:8664909|PMID:8807335|PMID:8829647|PMID:8829661|PMID:8830188|PMID:8940265|PMID:9222763|PMID:9266380|PMID:9375851|PMID:9452044|PMID:9501270|PMID:9536098|PMID:9573369|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:12799	mucopolysaccharidosis II		ISO	RGD:1351665	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hunter Syndrome | ClinVar Annotator: match by term: IDS-related condition | ClinVar Annotator: match by term: MPS2 | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE II | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE II, MILD FORM | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE II, SEVERE FORM | ClinVar Annotator: match by term: Mucopolysaccharidosis II | ClinVar Annotator: match by term: Mucopolysaccharidosis type II | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II	PMID:10215411|PMID:10220152|PMID:10447264|PMID:10493987|PMID:10671065|PMID:10838181|PMID:11015461|PMID:11452244|PMID:11462244|PMID:11683780|PMID:11731225|PMID:11858372|PMID:12572848|PMID:12655569|PMID:12794697|PMID:1303211|PMID:14728992|PMID:15192834|PMID:15500445|PMID:15614569|PMID:16133661|PMID:16199547|PMID:1639384|PMID:16456790|PMID:16480701|PMID:16495038|PMID:16699754|PMID:16735228|PMID:16738950|PMID:16770800|PMID:17063374|PMID:17091340|PMID:17284421|PMID:17343270|PMID:17391447|PMID:17576681|PMID:17616540|PMID:17655837|PMID:17657858|PMID:18331837|PMID:18396123|PMID:18414213|PMID:18500569|PMID:18546295|PMID:19046346|PMID:19167723|PMID:19573456|PMID:19933090|PMID:20104590|PMID:20301451|PMID:20960627|PMID:20960629|PMID:21062272|PMID:21291454|PMID:21528770|PMID:21605424|PMID:21639919|PMID:21706504|PMID:21829674|PMID:21834048|PMID:21910981|PMID:21963080|PMID:22153556|PMID:22190500|PMID:22246721|PMID:22286622|PMID:22492741|PMID:22622771|PMID:22912587|PMID:22976768|PMID:22990955|PMID:23232253|PMID:23430803|PMID:23430829|PMID:23430907|PMID:23726270|PMID:23800320|PMID:23867855|PMID:24125893|PMID:24268528|PMID:24454794|PMID:24515576|PMID:24767253|PMID:24780617|PMID:24798265|PMID:24875751|PMID:25038527|PMID:25169630|PMID:25640679|PMID:25681085|PMID:25741868|PMID:26407519|PMID:26693516|PMID:26752647|PMID:26762690|PMID:26897145|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27789394|PMID:27789398|PMID:27789399|PMID:27837218|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28186595|PMID:28477385|PMID:28492532|PMID:28543354|PMID:28588666|PMID:28593992|PMID:28720891|PMID:28844463|PMID:29053855|PMID:29671225|PMID:29801497|PMID:30409495|PMID:30639582|PMID:30809705|PMID:30945278|PMID:31046699|PMID:31456290|PMID:31618753|PMID:31732130|PMID:31877959|PMID:31895584|PMID:31991612|PMID:32005694|PMID:32014045|PMID:32036093|PMID:32448126|PMID:32619248|PMID:32775211|PMID:33075783|PMID:33096603|PMID:33117908|PMID:33124617|PMID:33176815|PMID:33622387|PMID:33674846|PMID:33676511|PMID:33960103|PMID:34193122|PMID:34258227|PMID:34630504|PMID:34670126|PMID:34813777|PMID:35005816|PMID:35144014|PMID:35225932|PMID:35242576|PMID:35568060|PMID:35759972|PMID:35782619|PMID:35882106|PMID:35887520|PMID:35916809|PMID:36077388|PMID:36713083|PMID:36907694|PMID:36945845|PMID:36980980|PMID:38425718|PMID:39303318|PMID:39547427|PMID:7492967|PMID:7581397|PMID:7599640|PMID:7728156|PMID:7814022|PMID:7866405|PMID:7887413|PMID:7981716|PMID:8111411|PMID:8281149|PMID:8566953|PMID:8664909|PMID:8807335|PMID:8829647|PMID:8829661|PMID:8830188|PMID:8940265|PMID:9222763|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9536098|PMID:9573369|PMID:9611068|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:12799	mucopolysaccharidosis II		ISS	RGD:1557423	D	RGD:13592920	20230718	MouseDO		OMIM:309900	
1560491	Ids	iduronate 2-sulfatase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1351665	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency	PMID:25741868|PMID:28492532
1560491	Ids	iduronate 2-sulfatase	gene	DOID:1283	enterocele		ISO	RGD:1351665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:10215411|PMID:10447264|PMID:10671065|PMID:11462244|PMID:11683780|PMID:11858372|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:24780617|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31618753|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:1686	glaucoma		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:11858372|PMID:1639384|PMID:21829674|PMID:24780617|PMID:25741868|PMID:27246110|PMID:28077157|PMID:28492532|PMID:30639582|PMID:35144014|PMID:36713083|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8940265|PMID:9501270|PMID:9875019
1560491	Ids	iduronate 2-sulfatase	gene	DOID:3275	thymoma		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560491	Ids	iduronate 2-sulfatase	gene	DOID:381	arthropathy		ISO	RGD:1351665	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthropathy	PMID:10215411|PMID:10447264|PMID:10671065|PMID:11462244|PMID:11683780|PMID:11858372|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:24780617|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31618753|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560491	Ids	iduronate 2-sulfatase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560491	Ids	iduronate 2-sulfatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560491	Ids	iduronate 2-sulfatase	gene	DOID:630	genetic disease		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10671065|PMID:11858372|PMID:1639384|PMID:16495038|PMID:17063374|PMID:17091340|PMID:18414213|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22286622|PMID:22976768|PMID:24125893|PMID:24780617|PMID:25741868|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31618753|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8940265|PMID:9452044|PMID:9501270|PMID:9875019|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560491	Ids	iduronate 2-sulfatase	gene	DOID:9003816	Macrocephaly		ISO	RGD:1351665	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:11858372|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:24780617|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1351665	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1351665	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
1560491	Ids	iduronate 2-sulfatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:15614569|PMID:25741868|PMID:28492532|PMID:31877959|PMID:35144014
1560491	Ids	iduronate 2-sulfatase	gene	DOID:9007661	Dwarfism		ISO	RGD:1351665	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:11858372|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:24780617|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9501270|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
1560491	Ids	iduronate 2-sulfatase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11858372|PMID:1639384|PMID:21829674|PMID:24780617|PMID:25741868|PMID:27246110|PMID:28077157|PMID:28492532|PMID:30639582|PMID:35144014|PMID:36713083|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8940265|PMID:9501270|PMID:9875019
1560491	Ids	iduronate 2-sulfatase	gene	DOID:9008681	Deafness		ISO	RGD:1351665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:25741868|PMID:35144014
1560491	Ids	iduronate 2-sulfatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:10215411|PMID:10447264|PMID:11462244|PMID:11683780|PMID:1303211|PMID:15614569|PMID:16133661|PMID:1639384|PMID:17063374|PMID:18414213|PMID:21291454|PMID:21829674|PMID:22976768|PMID:23800320|PMID:24125893|PMID:25741868|PMID:26407519|PMID:26693516|PMID:27146977|PMID:27246110|PMID:27883178|PMID:27896113|PMID:28492532|PMID:28543354|PMID:30639582|PMID:31877959|PMID:33676511|PMID:33960103|PMID:35144014|PMID:36713083|PMID:7728156|PMID:7887413|PMID:8111411|PMID:8281149|PMID:8664909|PMID:8940265|PMID:9266380|PMID:9442913|PMID:9452044|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361
1560492	Cirop	ciliated left-right organizer metallopeptidase	gene	DOID:0051026	visceral heterotaxy 12		ISO	RGD:13208685	D	RGD:7240710	20220209	OMIM			
1560492	Cirop	ciliated left-right organizer metallopeptidase	gene	DOID:0051026	visceral heterotaxy 12		ISO	RGD:13208685	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CIROP-related condition | ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 12, AUTOSOMAL | ClinVar Annotator: match by term: Heterotaxy, visceral, 12, autosomal	PMID:25741868|PMID:34903892
1560492	Cirop	ciliated left-right organizer metallopeptidase	gene	DOID:0111873	photosensitive trichothiodystrophy 1		ISO	RGD:13208685	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive	PMID:25741868
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:1347526	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24686847
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:1347526	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Aicardi Goutieres syndrome	PMID:25741868
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:0060025	immunoglobulin alpha deficiency		ISO	RGD:1347526	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:20694011|PMID:27723758
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:0060249	scoliosis		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:31898846|PMID:35410415|PMID:35754802|PMID:36426976
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:0061065	immunodeficiency 95		ISO	RGD:1347526	D	RGD:7240710	20220316	OMIM			
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:0061065	immunodeficiency 95		ISO	RGD:1347526	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary predisposition to infections | ClinVar Annotator: match by term: IMMUNODEFICIENCY 95 | ClinVar Annotator: match by term: Immunodeficiency 95	PMID:16199547|PMID:16625202|PMID:24686847|PMID:25741868|PMID:26833990|PMID:28492532|PMID:28716935|PMID:29018476|PMID:31898846|PMID:34185153|PMID:36703223
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:0080600	COVID-19		ISO	RGD:1347526	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:0080711	multisystem inflammatory syndrome in children		ISO	RGD:1347526	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children	PMID:25741868|PMID:28492532
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:0081013	severe COVID-19		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Susceptibility to severe COVID-19	PMID:19264985|PMID:25741868|PMID:28492532|PMID:28716935|PMID:33440462|PMID:34975878|PMID:36703223|PMID:38757311
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:31898846|PMID:35410415|PMID:35754802|PMID:36426976
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:31898846|PMID:35410415|PMID:35754802|PMID:36426976
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:10283	prostate cancer		ISO	RGD:1347526	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:10283	prostate cancer		ISO	RGD:1347526	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:1059	intellectual disability		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:24686847|PMID:25620204|PMID:25741868|PMID:26833990|PMID:28319323|PMID:28475458|PMID:28492532|PMID:31898846|PMID:35410415|PMID:35754802|PMID:36426976
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:1068	juvenile glaucoma		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glaucoma of childhood	PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:31898846|PMID:35410415|PMID:35754802|PMID:36426976
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:10754	otitis media		ISO	RGD:1347526	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868|PMID:28492532
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:10763	hypertension		ISO	RGD:1347526	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertension	PMID:25741868
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:10907	microcephaly		ISO	RGD:1347526	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:24686847|PMID:25741868|PMID:26833990|PMID:28492532|PMID:31898846
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:31898846|PMID:35410415|PMID:35754802|PMID:36426976
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:10965	spastic diplegia		ISO	RGD:1347526	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:25741868
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:10991	basal ganglia cerebrovascular disease		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: lenticulostriate vasculopathy	PMID:30965144
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:11162	respiratory failure		ISO	RGD:1347526	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:24686847|PMID:25741868|PMID:26833990|PMID:28492532|PMID:31898846
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:11836	clubfoot		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:31898846|PMID:35410415|PMID:35754802|PMID:36426976
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:12306	vitiligo		ISO	RGD:1347526	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561518
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:12361	Graves' disease		ISO	RGD:1347526	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17535987
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:12849	autistic disorder		ISO	RGD:13610798	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autism	PMID:18414213
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:31898846|PMID:35410415|PMID:35754802|PMID:36426976
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:1826	epilepsy		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:1909	melanoma		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1347526	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:24686847|PMID:25741868|PMID:26833990|PMID:28492532|PMID:31898846
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:2365	West Nile encephalitis		ISO	RGD:1557966	D	RGD:126781836|PMID:24173226	20210421	RGD		mRNA:increased expression:brain	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:480	movement disease		ISO	RGD:1347526	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:24686847|PMID:25741868|PMID:26833990|PMID:28492532|PMID:31898846
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347526	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:543	dystonia		ISO	RGD:1347526	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:24686847|PMID:25741868|PMID:26833990|PMID:28492532|PMID:31898846
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:630	genetic disease		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:31898846|PMID:35410415|PMID:35754802|PMID:36426976
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:8437	intestinal obstruction		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intestinal obstruction	PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:31898846|PMID:35410415|PMID:35754802|PMID:36426976
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:865	vasculitis		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868|PMID:28492532
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:8893	psoriasis		ISO	RGD:1347526	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953190
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9000371	influenza A		ISO	RGD:1557966	D	RGD:9068941	20210122	RGD		mRNA:increased expression:nasal cavity mucosa (mouse)	PMID:25751630|REF_RGD_ID:40925925
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9001488	Human Influenza		ISO	RGD:1347526	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:31898846|PMID:35410415|PMID:35754802|PMID:36426976
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9002571	Aicardi-Goutieres Syndrome 7		ISO	RGD:1347526	D	RGD:7240710	20140911	OMIM			
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9002571	Aicardi-Goutieres Syndrome 7		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AICARDI-GOUTIERES SYNDROME 7 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24686847|PMID:24995871|PMID:25620204|PMID:25741868|PMID:26284909|PMID:26833990|PMID:28319323|PMID:28475458|PMID:28492532|PMID:28605144|PMID:29018476|PMID:29270977|PMID:29782060|PMID:30219631|PMID:30564185|PMID:30593198|PMID:30707351|PMID:31069529|PMID:31130681|PMID:31178897|PMID:31664448|PMID:31898846|PMID:33057194|PMID:33077954|PMID:34185153|PMID:35410415|PMID:35754802|PMID:35982159|PMID:36203604|PMID:36426976|PMID:36703223|PMID:9536098
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9003885	Singleton-Merten Syndrome 1		ISO	RGD:1347526	D	RGD:7240710	20190327	OMIM			
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9003885	Singleton-Merten Syndrome 1		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Singleton-Merten syndrome 1	PMID:16199547|PMID:17576681|PMID:24686847|PMID:24995871|PMID:25620204|PMID:25741868|PMID:26833990|PMID:28319323|PMID:28475458|PMID:28492532|PMID:30219631|PMID:31898846|PMID:34185153|PMID:35410415|PMID:35754802|PMID:36426976|PMID:37342449|PMID:9536098
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1347526	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:24686847|PMID:25741868|PMID:26833990|PMID:28492532|PMID:31898846
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1347526	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:24686847|PMID:25741868|PMID:26833990|PMID:28492532|PMID:31898846
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347526	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24686847|PMID:25741868|PMID:26833990|PMID:28492532|PMID:31898846
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9007304	Singleton Merten Syndrome		ISO	RGD:1347526	D	RGD:11554173	20190402	CTD		CTD Direct Evidence: marker/mechanism	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1347526	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:24686847|PMID:25741868|PMID:26833990|PMID:28492532|PMID:31898846
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:34185153
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347526	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: global developmental delay	PMID:24686847|PMID:25741868|PMID:26833990|PMID:28492532|PMID:31898846
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9008702	Idiopathic Basal Ganglia Calcification, Childhood Onset		ISO	RGD:1347526	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset | ClinVar Annotator: match by term: Cerebral calcification nonarteriosclerotic idiopathic childhood-onset	PMID:25741868|PMID:28492532
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:31898846|PMID:35410415|PMID:35754802|PMID:36426976
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1347526	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838195|PMID:24686847
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9074	systemic lupus erythematosus		ISS	RGD:1557966	D	RGD:13592920	20230718	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9834	hyperopia		ISO	RGD:1347526	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1560496	Ifih1	interferon induced with helicase C domain 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1347526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:31898846|PMID:35410415|PMID:35754802|PMID:36426976
1560499	Cd27	CD27 molecule	gene	DOID:0060708	lymphoproliferative syndrome 2		ISO	RGD:1353701	D	RGD:7240710	20140911	OMIM			
1560499	Cd27	CD27 molecule	gene	DOID:0060708	lymphoproliferative syndrome 2		ISO	RGD:1353701	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	PMID:16199547|PMID:25640679|PMID:25843314|PMID:28492532
1560499	Cd27	CD27 molecule	gene	DOID:0070658	alcohol-associated liver disease		IEP		D	RGD:1581860|PMID:16698589	20090323	RGD			
1560499	Cd27	CD27 molecule	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1353701	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769
1560499	Cd27	CD27 molecule	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1353701	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:25741868|PMID:28492532
1560499	Cd27	CD27 molecule	gene	DOID:820	myocarditis		ISO	RGD:1353701	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769
1560499	Cd27	CD27 molecule	gene	DOID:9007346	Cachexia		ISO	RGD:1353701	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17878525
1560499	Cd27	CD27 molecule	gene	DOID:934	viral infectious disease		ISO	RGD:1353701	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:0060058	lymphoma		ISO	RGD:1603642	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:10534	stomach cancer		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:1115	sarcoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:1324	lung cancer		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:1909	melanoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:3275	thymoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:5041	esophageal cancer		ISO	RGD:1603642	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560504	Ccdc93	CCC complex scaffolding subunit CCDC93	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:0070410	autosomal recessive spinocerebellar ataxia 29		ISO	RGD:1353898	D	RGD:7240710	20210728	OMIM			
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:0070410	autosomal recessive spinocerebellar ataxia 29		ISO	RGD:1353898	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29	PMID:25741868
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:10534	stomach cancer		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:1115	sarcoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:1324	lung cancer		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:1909	melanoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:3275	thymoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:4362	cervical cancer		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:630	genetic disease		ISO	RGD:1353898	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:33764426
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560511	Vps41	VPS41 subunit of HOPS complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560514	Aoah	acyloxyacyl hydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560514	Aoah	acyloxyacyl hydrolase	gene	DOID:10534	stomach cancer		ISO	RGD:1352932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560514	Aoah	acyloxyacyl hydrolase	gene	DOID:3275	thymoma		ISO	RGD:1352932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560514	Aoah	acyloxyacyl hydrolase	gene	DOID:4362	cervical cancer		ISO	RGD:1352932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560514	Aoah	acyloxyacyl hydrolase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560514	Aoah	acyloxyacyl hydrolase	gene	DOID:5041	esophageal cancer		ISO	RGD:1352932	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560514	Aoah	acyloxyacyl hydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560514	Aoah	acyloxyacyl hydrolase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560514	Aoah	acyloxyacyl hydrolase	gene	DOID:670	amphetamine abuse		ISO	RGD:1352932	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1560514	Aoah	acyloxyacyl hydrolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560514	Aoah	acyloxyacyl hydrolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:10534	stomach cancer		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:1115	sarcoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:1324	lung cancer		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:1909	melanoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:2394	ovarian cancer		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:3070	high grade glioma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:3275	thymoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:4362	cervical cancer		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1323240	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1323240	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18372903
1560519	Thada	THADA, armadillo repeat containing	gene	DOID:9849	Meniere's disease		ISO	RGD:1323240	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	
1560520	Sh3bgrl	SH3 domain binding glutamate rich protein like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560520	Sh3bgrl	SH3 domain binding glutamate rich protein like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560520	Sh3bgrl	SH3 domain binding glutamate rich protein like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560520	Sh3bgrl	SH3 domain binding glutamate rich protein like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560520	Sh3bgrl	SH3 domain binding glutamate rich protein like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560525	Fzd8	frizzled class receptor 8	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350514	D	RGD:11554173	20180410	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1560537	Asb9	ankyrin repeat and SOCS box-containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560537	Asb9	ankyrin repeat and SOCS box-containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560537	Asb9	ankyrin repeat and SOCS box-containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1344669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560537	Asb9	ankyrin repeat and SOCS box-containing 9	gene	DOID:4362	cervical cancer		ISO	RGD:1344669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560537	Asb9	ankyrin repeat and SOCS box-containing 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560537	Asb9	ankyrin repeat and SOCS box-containing 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560537	Asb9	ankyrin repeat and SOCS box-containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560537	Asb9	ankyrin repeat and SOCS box-containing 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560538	Setd6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560538	Setd6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560538	Setd6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560538	Setd6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560538	Setd6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560538	Setd6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560540	Klhl31	kelch-like family member 31	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560540	Klhl31	kelch-like family member 31	gene	DOID:14717	centronuclear myopathy		ISS	RGD:1619800	D	RGD:13592920	20181025	MouseDO		OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959	
1560540	Klhl31	kelch-like family member 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560540	Klhl31	kelch-like family member 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560541	Tmem100	transmembrane protein 100	gene	DOID:4362	cervical cancer		ISO	RGD:1602475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560541	Tmem100	transmembrane protein 100	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560542	Prrg4	proline rich and Gla domain 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346309	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560542	Prrg4	proline rich and Gla domain 4	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1346309	D	RGD:152998978|PMID:31687280	20220714	RGD		mRNA:altered expression:liver (human)	
1560542	Prrg4	proline rich and Gla domain 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560542	Prrg4	proline rich and Gla domain 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1346309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:0070170	spermatogenic failure 19		ISO	RGD:1350133	D	RGD:7240710	20190315	OMIM			
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:0070170	spermatogenic failure 19		ISO	RGD:1350133	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 19 | ClinVar Annotator: match by term: Spermatogenic failure 19	PMID:25741868|PMID:29449551
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:0070170	spermatogenic failure 19		ISS	RGD:1619147	D	RGD:13592920	20230718	MouseDO		OMIM:617592	
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:0070687	normal pressure hydrocephalus 1		ISO	RGD:1350133	D	RGD:7240710	20260506	OMIM			
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:0070687	normal pressure hydrocephalus 1		ISO	RGD:1350133	D	RGD:8554872	20260505	ClinVar		ClinVar Annotator: match by term: CFAP43-related condition	PMID:25741868|PMID:28492532
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:10283	prostate cancer		ISO	RGD:1350133	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:10283	prostate cancer		ISO	RGD:1350133	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:10534	stomach cancer		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:1115	sarcoma		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:1324	lung cancer		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:14228	oligospermia		ISO	RGD:1350133	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868|PMID:28552195|PMID:29449551|PMID:31004071
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:1572	normal pressure hydrocephalus		ISO	RGD:1350133	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:1572	normal pressure hydrocephalus		ISO	RGD:1350133	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Normal pressure hydrocephalus | ClinVar Annotator: match by term: normal pressure hydrocephalus	PMID:25741868|PMID:29449551
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:1572	normal pressure hydrocephalus		ISS	RGD:1619147	D	RGD:13592920	20230718	MouseDO		OMIM:236690	
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:5041	esophageal cancer		ISO	RGD:1350133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560545	Cfap43	cilia and flagella associated protein 43	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560550	Mepce	methylphosphate capping enzyme	gene	DOID:0060058	lymphoma		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560550	Mepce	methylphosphate capping enzyme	gene	DOID:10534	stomach cancer		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560550	Mepce	methylphosphate capping enzyme	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560550	Mepce	methylphosphate capping enzyme	gene	DOID:1324	lung cancer		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560550	Mepce	methylphosphate capping enzyme	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560550	Mepce	methylphosphate capping enzyme	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560552	Eefsec	eukaryotic elongation factor, selenocysteine-tRNA-specific	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560552	Eefsec	eukaryotic elongation factor, selenocysteine-tRNA-specific	gene	DOID:0060308	autosomal recessive intellectual developmental disorder		ISO	RGD:1604801	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability	PMID:25741868
1560552	Eefsec	eukaryotic elongation factor, selenocysteine-tRNA-specific	gene	DOID:10534	stomach cancer		ISO	RGD:1604801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560552	Eefsec	eukaryotic elongation factor, selenocysteine-tRNA-specific	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560552	Eefsec	eukaryotic elongation factor, selenocysteine-tRNA-specific	gene	DOID:1115	sarcoma		ISO	RGD:1604801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560552	Eefsec	eukaryotic elongation factor, selenocysteine-tRNA-specific	gene	DOID:1909	melanoma		ISO	RGD:1604801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560552	Eefsec	eukaryotic elongation factor, selenocysteine-tRNA-specific	gene	DOID:3070	high grade glioma		ISO	RGD:1604801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560552	Eefsec	eukaryotic elongation factor, selenocysteine-tRNA-specific	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1604801	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28166215
1560552	Eefsec	eukaryotic elongation factor, selenocysteine-tRNA-specific	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560552	Eefsec	eukaryotic elongation factor, selenocysteine-tRNA-specific	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560552	Eefsec	eukaryotic elongation factor, selenocysteine-tRNA-specific	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560552	Eefsec	eukaryotic elongation factor, selenocysteine-tRNA-specific	gene	DOID:9009322	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN ABNORMALITIES		ISO	RGD:1604801	D	RGD:7240710	20250409	OMIM			
1560552	Eefsec	eukaryotic elongation factor, selenocysteine-tRNA-specific	gene	DOID:9009322	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN ABNORMALITIES		ISO	RGD:1604801	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain abnormalities	PMID:25741868
1560556	Ttc6	tetratricopeptide repeat domain 6	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1323287	D	RGD:8554872	20200707	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0080496	ovarian dysgenesis 4		ISO	RGD:1313696	D	RGD:7240710	20170621	OMIM			
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0080496	ovarian dysgenesis 4		ISO	RGD:1313696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MCM9-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4	PMID:28492532
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0080857	primary ovarian insufficiency 1		ISO	RGD:1313696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure 1	PMID:25741868
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:1115	sarcoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:11476	osteoporosis		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:31042289
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:1324	lung cancer		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:1909	melanoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:1924	hypogonadism		ISO	RGD:1313696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:25741868|PMID:31042289
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1313696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:630	genetic disease		ISO	RGD:1313696	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:630	genetic disease		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:684	hepatocellular carcinoma		ISS	RGD:1313697	D	RGD:13592920	20180518	MouseDO		OMIM:114550	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560557	Mcm9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560558	Pdzd9	PDZ domain containing 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560562	Sppl2c	signal peptide peptidase like 2C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606947	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1560565	Ano9	anoctamin 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560565	Ano9	anoctamin 9	gene	DOID:10283	prostate cancer		ISO	RGD:1345920	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1560565	Ano9	anoctamin 9	gene	DOID:10283	prostate cancer		ISO	RGD:1345920	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1560565	Ano9	anoctamin 9	gene	DOID:10534	stomach cancer		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560565	Ano9	anoctamin 9	gene	DOID:1115	sarcoma		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560565	Ano9	anoctamin 9	gene	DOID:1909	melanoma		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560565	Ano9	anoctamin 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1345920	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560565	Ano9	anoctamin 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560565	Ano9	anoctamin 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560565	Ano9	anoctamin 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560565	Ano9	anoctamin 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560565	Ano9	anoctamin 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560565	Ano9	anoctamin 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560565	Ano9	anoctamin 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560566	Tmem219	transmembrane protein 219	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560566	Tmem219	transmembrane protein 219	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560566	Tmem219	transmembrane protein 219	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1604542	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
1560566	Tmem219	transmembrane protein 219	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560566	Tmem219	transmembrane protein 219	gene	DOID:1115	sarcoma		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560566	Tmem219	transmembrane protein 219	gene	DOID:4362	cervical cancer		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560566	Tmem219	transmembrane protein 219	gene	DOID:5041	esophageal cancer		ISO	RGD:1604542	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560566	Tmem219	transmembrane protein 219	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560566	Tmem219	transmembrane protein 219	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560566	Tmem219	transmembrane protein 219	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560566	Tmem219	transmembrane protein 219	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:1909	melanoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606556	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560576	Cdhr2	cadherin-related family member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1352369	D	RGD:626467895|PMID:20032010	20250909	RGD		associated with lower respiratory tract disease, disease remission; DNA:SNP: :rs8076131	
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1352369	D	RGD:629006596|PMID:34919286	20251106	RGD		DNA:SNP: :multiple	
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:0080815	childhood-onset asthma	susceptibility	ISO	RGD:1352369	D	RGD:628374613|PMID:25256354	20251010	RGD		DNA:SNPs:CpG site:rs4065275, rs12603332	
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:0080815	childhood-onset asthma	susceptibility	ISO	RGD:1352369	D	RGD:628374615|PMID:19133921	20251013	RGD		DNA:SNP: :rs4378650	
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:10534	stomach cancer		ISO	RGD:1352369	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:2841	asthma		ISO	RGD:1352369	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21150878|PMID:25256354
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:2841	asthma		ISO	RGD:1352369	D	RGD:5144240|PMID:21150878	20260202	RGD		DNA:SNP:5'utr:rs6503525	
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:2841	asthma		ISO	RGD:1352369	D	RGD:626419672|PMID:22732088	20250904	RGD		DNA:SNP:intron:rs4065275	
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:2841	asthma	disease_progression	ISO	RGD:1352369	D	RGD:628374617|PMID:37877592	20251013	RGD		associated with Viral Bronchiolitis;	
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:8577	ulcerative colitis		ISO	RGD:1352369	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:9006928	Viral Bronchiolitis	severity	ISO	RGD:1352369	D	RGD:628374617|PMID:37877592	20251013	RGD		associated with respiratory syncytial virus infectious disease;	
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:9415	allergic asthma		ISO	RGD:1352369	D	RGD:628398238|PMID:35321632	20251020	RGD		mRNA:increased expression:peripheral blood mononuclear cell	
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:9415	allergic asthma	ameliorates	ISO	RGD:1558251	D	RGD:628374618|PMID:32578458	20251014	RGD			
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:9415	allergic asthma	susceptibility	ISO	RGD:1352369	D	RGD:628398239|PMID:25930191	20251020	RGD		associated with childhood-onset asthma;DNA:SNPs,haplotype:promoter	
1560577	Ormdl3	ORMDL sphingolipid biosynthesis regulator 3	gene	DOID:9415	allergic asthma	treatment	ISO	RGD:1352369	D	RGD:628374614|PMID:22986918	20251010	RGD		DNA:SNP: :rs2872507	
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:0060731	congenital central hypoventilation syndrome		ISO	RGD:1347823	D	RGD:11058834|PMID:24799442	20170620	RGD		DNA:duplication:  :c.691_698dup (human)	
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:0060731	congenital central hypoventilation syndrome		ISO	RGD:1347823	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12640453|PMID:14608649
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:0060731	congenital central hypoventilation syndrome		ISO	RGD:1347823	D	RGD:12910557|PMID:19201717	20170620	RGD		DNA:repeats	
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:0060731	congenital central hypoventilation syndrome		ISO	RGD:1347823	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL | ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital | ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: ONDINE CURSE, CONGENITAL | ClinVar Annotator: match by term: Ondine-Hirschsprung disease	PMID:12631670|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15121777|PMID:15334515|PMID:15657873|PMID:16830328|PMID:16888290|PMID:17637745|PMID:18079495|PMID:19011468|PMID:19058226|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21336852|PMID:22821709|PMID:24033266|PMID:25741868|PMID:26063465|PMID:26580448|PMID:27013732|PMID:28433712|PMID:28492532|PMID:29543228|PMID:30672101|PMID:30850150|PMID:33958749|PMID:34012823|PMID:34298581|PMID:35360554|PMID:36031316
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:0060731	congenital central hypoventilation syndrome		ISS	RGD:1557466	D	RGD:13592920	20230718	MouseDO		OMIM:209880	
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1347823	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease	
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:2394	ovarian cancer		ISO	RGD:1347823	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:769	neuroblastoma		ISO	RGD:1347823	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:25174395|PMID:30127528
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:769	neuroblastoma		ISO	RGD:1347823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:15516980|PMID:16249188|PMID:17637745|PMID:23873030|PMID:27993330|PMID:28055978|PMID:28915622|PMID:29098737|PMID:30523111|PMID:31927719|PMID:33056981|PMID:33384420
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:769	neuroblastoma	exacerbates	ISO	RGD:1347823	D	RGD:151667442|PMID:26840262	20220408	RGD		human cell line in a mouse model	
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:8778	Crohn's disease		ISO	RGD:1347823	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17435756
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9000270	Congenital Central Hypoventilation Syndrome 1		ISO	RGD:1347823	D	RGD:7240710	20260701	OMIM			
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9000270	Congenital Central Hypoventilation Syndrome 1		ISO	RGD:1347823	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1 | ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | ClinVar Annotator: match by term: Haddad syndrome	PMID:12631670|PMID:12640453|PMID:14709596|PMID:15121777|PMID:15657873|PMID:15888479|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:18079495|PMID:19011468|PMID:19058226|PMID:20208042|PMID:20301600|PMID:24033266|PMID:25156769|PMID:25741868|PMID:26375764|PMID:26580448|PMID:27013732|PMID:28433712|PMID:28492532|PMID:29098737|PMID:29543228|PMID:29696799|PMID:30092902|PMID:30672101|PMID:31444792|PMID:33958749|PMID:34012823|PMID:9536098
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9001305	Neuroblastoma 2		ISO	RGD:1347823	D	RGD:7240710	20260701	OMIM			
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9001305	Neuroblastoma 2		ISO	RGD:1347823	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2	PMID:12640453|PMID:14566559|PMID:14608649|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16199547|PMID:16249188|PMID:16691592|PMID:16763219|PMID:16830328|PMID:17637745|PMID:17765533|PMID:18079495|PMID:19011468|PMID:19058226|PMID:20208042|PMID:20301600|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24728327|PMID:25156769|PMID:25741868|PMID:26063465|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28492532|PMID:28873162|PMID:29641532|PMID:33958749|PMID:39033378
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9001305	Neuroblastoma 2		ISO	RGD:1347823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2	PMID:12640453|PMID:15024693|PMID:15657873|PMID:15949893|PMID:16249188|PMID:16830328|PMID:17637745|PMID:18079495|PMID:19011468|PMID:19058226|PMID:20208042|PMID:23754957|PMID:23873030|PMID:24033266|PMID:25741868|PMID:26375764|PMID:26580448|PMID:27013732|PMID:28371199|PMID:28492532|PMID:33958749
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9001466	Hirschsprung Disease Ganglioneuroblastoma		ISO	RGD:1347823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE	PMID:15338462|PMID:17637745|PMID:20089899|PMID:23754957|PMID:23873030
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9003671	Hypoventilation		ISO	RGD:1347823	D	RGD:1599147|PMID:14566559	20070117	RGD			
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9003671	Hypoventilation		ISO	RGD:1347823	D	RGD:1599148|PMID:12640453	20070117	RGD			
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9004992	Apnea		ISO	RGD:1347823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apneas	PMID:25741868
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347823	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11953745|PMID:12438263|PMID:12631670|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16249188|PMID:16443855|PMID:16691592|PMID:16763219|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:17765533|PMID:18079495|PMID:18157832|PMID:18292934|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20089899|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21373876|PMID:23460419|PMID:23622117|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24169930|PMID:24728327|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26063465|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28433712|PMID:28492532|PMID:28873162|PMID:29531718|PMID:29543228|PMID:29641532|PMID:29704303|PMID:30518452|PMID:30672101|PMID:30850150|PMID:32573669|PMID:33958749|PMID:34298581|PMID:9536098
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347823	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11953745|PMID:12438263|PMID:12631670|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16199547|PMID:16249188|PMID:16691592|PMID:16763219|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:17765533|PMID:18079495|PMID:18157832|PMID:18292934|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20089899|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21373876|PMID:23460419|PMID:23622117|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24169930|PMID:24728327|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26063465|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28433712|PMID:28492532|PMID:28873162|PMID:29531718|PMID:29543228|PMID:29641532|PMID:29704303|PMID:30518452|PMID:30672101|PMID:30850150|PMID:32573669|PMID:33958749|PMID:34012823|PMID:34298581|PMID:9536098
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347823	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11953745|PMID:12438263|PMID:12631670|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16199547|PMID:16249188|PMID:16691592|PMID:16763219|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:17765533|PMID:18079495|PMID:18157832|PMID:18292934|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20089899|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21373876|PMID:23460419|PMID:23622117|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24169930|PMID:24728327|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26063465|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28433712|PMID:28492532|PMID:28873162|PMID:29543228|PMID:29641532|PMID:29704303|PMID:30518452|PMID:30672101|PMID:30850150|PMID:32573669|PMID:33958749|PMID:34012823|PMID:34298581|PMID:39033378|PMID:9536098
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347823	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11953745|PMID:12438263|PMID:12631670|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16199547|PMID:16249188|PMID:16691592|PMID:16763219|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:17765533|PMID:18079495|PMID:18157832|PMID:18292934|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20089899|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21373876|PMID:23460419|PMID:23622117|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24169930|PMID:24728327|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26063465|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:27854218|PMID:28371199|PMID:28422456|PMID:28433712|PMID:28492532|PMID:28873162|PMID:29543228|PMID:29641532|PMID:29704303|PMID:30518452|PMID:30672101|PMID:30850150|PMID:32573669|PMID:33958749|PMID:33983112|PMID:34012823|PMID:34298581|PMID:39033378|PMID:9536098
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12640453|PMID:14566559|PMID:15121777|PMID:15657873|PMID:16199547|PMID:16830328|PMID:16888290|PMID:17576681|PMID:18079495|PMID:18157832|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20208042|PMID:21373876|PMID:23460419|PMID:23622117|PMID:24033266|PMID:24169930|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26580448|PMID:27013732|PMID:28492532|PMID:29543228|PMID:29641532|PMID:30518452|PMID:30672101|PMID:33958749|PMID:33983112|PMID:34012823|PMID:35486589|PMID:9536098
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12640453|PMID:14566559|PMID:15121777|PMID:15657873|PMID:16199547|PMID:16830328|PMID:16888290|PMID:17576681|PMID:18079495|PMID:18157832|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20208042|PMID:21373876|PMID:23460419|PMID:23622117|PMID:24033266|PMID:24169930|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26580448|PMID:27013732|PMID:28492532|PMID:29543228|PMID:30518452|PMID:30672101|PMID:33958749|PMID:33983112|PMID:34012823|PMID:35486589|PMID:9536098
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347823	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12631670|PMID:12640453|PMID:14566559|PMID:14709596|PMID:15121777|PMID:15657873|PMID:16199547|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:18079495|PMID:18157832|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20208042|PMID:21373876|PMID:23460419|PMID:23622117|PMID:24033266|PMID:24169930|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26580448|PMID:27013732|PMID:28433712|PMID:28492532|PMID:29543228|PMID:30518452|PMID:30672101|PMID:33958749|PMID:33983112|PMID:34012823|PMID:35486589|PMID:9536098
1560582	Phox2b	paired-like homeobox 2b	gene	DOID:9256	colorectal cancer		ISO	RGD:1347823	D	RGD:152025258|PMID:22552777	20220502	RGD		DNA:hypermethylation: : (human)	
1560583	Ccdc34	coiled-coil domain containing 34	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560583	Ccdc34	coiled-coil domain containing 34	gene	DOID:0070575	spermatogenic failure 76		ISO	RGD:1606993	D	RGD:7240710	20221102	OMIM			
1560583	Ccdc34	coiled-coil domain containing 34	gene	DOID:0070575	spermatogenic failure 76		ISO	RGD:1606993	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 76	
1560583	Ccdc34	coiled-coil domain containing 34	gene	DOID:0111910	spermatogenic failure		ISS	RGD:1619187	D	RGD:13592920	20230323	MouseDO			
1560583	Ccdc34	coiled-coil domain containing 34	gene	DOID:10534	stomach cancer		ISO	RGD:1606993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560583	Ccdc34	coiled-coil domain containing 34	gene	DOID:1115	sarcoma		ISO	RGD:1606993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560583	Ccdc34	coiled-coil domain containing 34	gene	DOID:3275	thymoma		ISO	RGD:1606993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560583	Ccdc34	coiled-coil domain containing 34	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560583	Ccdc34	coiled-coil domain containing 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560583	Ccdc34	coiled-coil domain containing 34	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560587	Epha4	Eph receptor A4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560587	Epha4	Eph receptor A4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1345605	D	RGD:6218956|PMID:19542617	20120307	RGD		protein:decreased expression:hippocampus	
1560587	Epha4	Eph receptor A4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1558389	D	RGD:6218956|PMID:19542617	20120307	RGD		protein:decreased expression:hippocampus	
1560587	Epha4	Eph receptor A4	gene	DOID:1324	lung cancer		ISO	RGD:1345605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560587	Epha4	Eph receptor A4	gene	DOID:1827	generalized epilepsy		ISO	RGD:1345605	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
1560587	Epha4	Eph receptor A4	gene	DOID:3602	toxic encephalopathy		IEP		D	RGD:5688752|PMID:10336070	20120305	RGD			
1560587	Epha4	Eph receptor A4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345605	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560587	Epha4	Eph receptor A4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560587	Epha4	Eph receptor A4	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:5688782|PMID:17418490	20120306	RGD			
1560587	Epha4	Eph receptor A4	gene	DOID:9000039	Spinal Cord Injuries		IMP		D	RGD:5688750|PMID:17970742	20120305	RGD			
1560587	Epha4	Eph receptor A4	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1558389	D	RGD:5688764|PMID:21931787	20120306	RGD			
1560587	Epha4	Eph receptor A4	gene	DOID:9000998	Brain Injuries		ISO	RGD:1345605	D	RGD:5688763|PMID:22318127	20120306	RGD		protein:increased expression, increased activity:astrocyte	
1560587	Epha4	Eph receptor A4	gene	DOID:9002211	Hyperalgesia		IMP		D	RGD:5688783|PMID:16959251	20120306	RGD		associated with spinal cord injuries;	
1560587	Epha4	Eph receptor A4	gene	DOID:9003676	Brain Hypoxia-Ischemia		IEP		D	RGD:5688765|PMID:21736568	20120306	RGD		protein:increased expression:brain	
1560587	Epha4	Eph receptor A4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560587	Epha4	Eph receptor A4	gene	DOID:9007402	Gliosis		ISO	RGD:1558389	D	RGD:5688771|PMID:15537875	20120306	RGD		associated with spinal cord injuries;	
1560587	Epha4	Eph receptor A4	gene	DOID:9007402	Gliosis	no_association	ISO	RGD:1558389	D	RGD:5688772|PMID:20170651	20120306	RGD		associated with spinal cord injuries;	
1560587	Epha4	Eph receptor A4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560591	Snx32	sorting nexin 32	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560591	Snx32	sorting nexin 32	gene	DOID:0080600	COVID-19		ISO	RGD:1605258	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560591	Snx32	sorting nexin 32	gene	DOID:3070	high grade glioma		ISO	RGD:1605258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560591	Snx32	sorting nexin 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560591	Snx32	sorting nexin 32	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560591	Snx32	sorting nexin 32	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605258	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1560591	Snx32	sorting nexin 32	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560593	Tmem114	transmembrane protein 114	gene	DOID:3275	thymoma		ISO	RGD:2292465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1350727	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27238081
1560596	Trim24	tripartite motif-containing 24	gene	DOID:10534	stomach cancer		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:1115	sarcoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:1324	lung cancer		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:1909	melanoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:2394	ovarian cancer		ISO	RGD:1350727	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1560596	Trim24	tripartite motif-containing 24	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:4362	cervical cancer		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1350727	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350727	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18026104
1560596	Trim24	tripartite motif-containing 24	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350727	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1560596	Trim24	tripartite motif-containing 24	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1555981	D	RGD:1599658|PMID:10439047	20070209	RGD		papillary thyroid carcinoma, OMIM:188550	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560596	Trim24	tripartite motif-containing 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560598	Styxl2	serine/threonine/tyrosine interacting like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560598	Styxl2	serine/threonine/tyrosine interacting like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560600	C1d	C1D nuclear receptor corepressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560600	C1d	C1D nuclear receptor corepressor	gene	DOID:10534	stomach cancer		ISO	RGD:1607075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560600	C1d	C1D nuclear receptor corepressor	gene	DOID:5041	esophageal cancer		ISO	RGD:1607075	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560600	C1d	C1D nuclear receptor corepressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0060309	syndromic X-linked intellectual disability		ISO	RGD:1349337	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: X-linked syndromic intellectual disability	PMID:28492532
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0060473	Kabuki syndrome		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kabuki syndrome	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1349337	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Smith-Magenis Syndrome-like	PMID:27799067|PMID:28492532
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type		ISO	RGD:1349337	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type		ISO	RGD:1349337	D	RGD:7240710	20131127	OMIM			
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type		ISO	RGD:1349337	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE | ClinVar Annotator: match by term: KDM5C-related condition | ClinVar Annotator: match by term: KDM5C-related disorder | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 16 | ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Claes-Jensen type | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type | ClinVar Annotator: match by term: syndromic X-linked intellectual disability Claes-Jensen type	PMID:15586325|PMID:16541399|PMID:17244608|PMID:18414213|PMID:18697827|PMID:19826449|PMID:23356856|PMID:24583395|PMID:25666439|PMID:25666757|PMID:25741868|PMID:25741873|PMID:26467025|PMID:26580603|PMID:27959697|PMID:28492532|PMID:29304373|PMID:32279304|PMID:34356104|PMID:35795805|PMID:36434256|PMID:36553533|PMID:36672956|PMID:36937954|PMID:37872275|PMID:38114583
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type		ISO	RGD:1349337	D	RGD:9587779|PMID:22326837	20141017	RGD		DNA:snp:cds:c.2T>C (human)	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type		ISS	RGD:1558152	D	RGD:13592920	20230718	MouseDO		OMIM:300534	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16	PMID:16541399|PMID:18414213|PMID:25666439|PMID:25741868|PMID:28492532
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0080216	duodenal atresia		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duodenal atresia	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0080703	medulloblastoma SHH activated		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated	PMID:27993330
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:19826449
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:10534	stomach cancer		ISO	RGD:1349337	D	RGD:151361174|PMID:26858085	20220227	RGD		mRNA:increased expression:stomach (human)	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:10534	stomach cancer		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:1059	intellectual disability		ISO	RGD:1349337	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21076407
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:1059	intellectual disability		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disability	PMID:15586325|PMID:18697827|PMID:25167861|PMID:25741868|PMID:28492532|PMID:32581362
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:10907	microcephaly		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25666439
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:10908	hydrocephalus		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:15586325|PMID:18697827|PMID:25741868|PMID:28492532
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:1143	exotropia		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:19826449
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:11830	myopia		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:12190	descending colon cancer	onset	ISO	RGD:1349337	D	RGD:151361178|PMID:30018131	20220227	RGD		associate with colorectal cancer;DNA:mutations:multiple (human)	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:12849	autistic disorder		ISO	RGD:1349337	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18203167
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:12849	autistic disorder		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: CHD8-Related Disorders	PMID:15586325|PMID:25741868|PMID:28708303
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:12849	autistic disorder		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:12858	Huntington's disease		ISO	RGD:1349337	D	RGD:9587806|PMID:23872847	20141020	RGD		mRNA:increased expression:caudate nucleus (human)	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:1324	lung cancer		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:1596	depressive disorder		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Depression	PMID:19826449|PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:1612	breast cancer	severity	ISO	RGD:1349337	D	RGD:9586031|PMID:22199269	20141003	RGD		mRNA:altered expression:breast (human)	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:1826	epilepsy		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:15586325|PMID:18697827|PMID:25741868|PMID:28492532
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:15586325|PMID:18697827|PMID:25741868|PMID:28492532
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:1891	optic nerve disease		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:19826449
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:1909	melanoma		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:2030	anxiety disorder		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:19826449|PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:219	colon cancer		ISO	RGD:1349337	D	RGD:151361176|PMID:33042830	20220227	RGD		mRNA:increased expression:colon (human)	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:2234	focal epilepsy		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:3070	high grade glioma		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:3087	gingivitis		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:28492532
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:3459	breast carcinoma		ISO	RGD:1349337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:15586325|PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:4362	cervical cancer		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1349337	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:4928	intrahepatic cholangiocarcinoma	exacerbates	ISO	RGD:1349337	D	RGD:9068941	20220303	RGD		protein:decreased expression:bile duct (human)	PMID:32714863|REF_RGD_ID:151361175
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:535	sleep disorder		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disorder	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:540	strabismus		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:5419	schizophrenia		IEP		D	RGD:9586022|PMID:23932495	20141017	RGD		protein:increased expression:prefrontal cortex (rat)	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:607	paraplegia		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:15586325|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18697827|PMID:22326837|PMID:23356856|PMID:24583395|PMID:25644381|PMID:25666439|PMID:25666757|PMID:25741868|PMID:26467025|PMID:26863999|PMID:27959697|PMID:28492532|PMID:29304373|PMID:29670509|PMID:32279304|PMID:33547396|PMID:37872275|PMID:38177409|PMID:40125771|PMID:9536098
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:630	genetic disease		ISO	RGD:1349337	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15586325|PMID:16541399|PMID:17468742|PMID:18203167|PMID:18414213|PMID:18697827|PMID:19826449|PMID:24583395|PMID:25666439|PMID:25741868|PMID:26467025|PMID:27214403|PMID:28492532|PMID:31912665|PMID:32005694|PMID:32279304|PMID:36413997
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1349337	D	RGD:11530160|PMID:26503415	20220227	RGD		protein:increased expression:liver (human)	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:7998	hyperthyroidism		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9000053	Headache		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Headache	PMID:19826449
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25666439|PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9003507	Premature Birth		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9003539	Hyperacusis		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9003591	Telecanthus		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Telecanthus	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9003816	Macrocephaly		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349337	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9004866	Ataxia		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyssynergia	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1349337	D	RGD:9587807|PMID:18697827	20141020	RGD		DNA:missense mutations, frameshift mutations:multiple (human)	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25666439|PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:19826449
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9007661	Dwarfism		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:15586325|PMID:18697827|PMID:25741868|PMID:28492532
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9008023	Memory Disorders		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15586325|PMID:18697827|PMID:25666439|PMID:25741868|PMID:28492532
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9008385	Vomiting		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:19826449
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9008582	Developmental Disease		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9256	colorectal cancer		ISO	RGD:1349337	D	RGD:151361177|PMID:32552762	20220227	RGD		mRNA:increased expression:colorectum (human)	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9538	multiple myeloma		ISO	RGD:1349337	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9834	hyperopia		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9840	esotropia		ISO	RGD:1349337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
1560601	Kdm5c	lysine demethylase 5C	gene	DOID:9970	obesity		ISO	RGD:1349337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1560603	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560603	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560603	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:10534	stomach cancer		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560603	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:1115	sarcoma		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560603	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560603	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560603	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:4362	cervical cancer		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560603	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560603	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1345894	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560603	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560603	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345894	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1560603	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560603	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560603	Map3k15	mitogen-activated protein kinase kinase kinase 15	gene	DOID:9256	colorectal cancer		ISO	RGD:1345894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:0050645	arterial tortuosity syndrome		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial tortuosity	PMID:25741868
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:0060249	scoliosis		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:0060321	umbilical hernia		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:10534	stomach cancer		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:1115	sarcoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:1324	lung cancer		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:1826	epilepsy		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:3070	high grade glioma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:4362	cervical cancer		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:5041	esophageal cancer		ISO	RGD:1607048	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:9000482	Tarlov Cysts		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Perineural cyst	PMID:25741868
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:9000966	Night Terror		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep terror	PMID:25741868
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:9001031	Retrognathia		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:9003126	Hallucinations		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:25741868
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:9004040	Parasomnias		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parasomnia	PMID:25741868
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560606	Utp20	UTP20 small subunit processome component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560609	Vnn3	vanin 3	gene	DOID:8893	psoriasis		ISO	RGD:1351839	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19322213
1560612	Phf21a	PHD finger protein 21A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560612	Phf21a	PHD finger protein 21A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560612	Phf21a	PHD finger protein 21A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1354499	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1560612	Phf21a	PHD finger protein 21A	gene	DOID:1059	intellectual disability		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1560612	Phf21a	PHD finger protein 21A	gene	DOID:10907	microcephaly		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1560612	Phf21a	PHD finger protein 21A	gene	DOID:12849	autistic disorder		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1560612	Phf21a	PHD finger protein 21A	gene	DOID:1324	lung cancer		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560612	Phf21a	PHD finger protein 21A	gene	DOID:1826	epilepsy		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1560612	Phf21a	PHD finger protein 21A	gene	DOID:1909	melanoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560612	Phf21a	PHD finger protein 21A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560612	Phf21a	PHD finger protein 21A	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1354499	D	RGD:11554173	20221213	CTD		CTD Direct Evidence: marker/mechanism	PMID:28811376
1560612	Phf21a	PHD finger protein 21A	gene	DOID:5041	esophageal cancer		ISO	RGD:1354499	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560612	Phf21a	PHD finger protein 21A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560612	Phf21a	PHD finger protein 21A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
1560612	Phf21a	PHD finger protein 21A	gene	DOID:630	genetic disease		ISO	RGD:1354499	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1560612	Phf21a	PHD finger protein 21A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
1560612	Phf21a	PHD finger protein 21A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1560612	Phf21a	PHD finger protein 21A	gene	DOID:9004521	Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures		ISO	RGD:1354499	D	RGD:7240710	20200226	OMIM			
1560612	Phf21a	PHD finger protein 21A	gene	DOID:9004521	Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures		ISO	RGD:1354499	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | ClinVar Annotator: match by term: PHF21A-related condition	PMID:22770980|PMID:25741868|PMID:28492532|PMID:2857172|PMID:30487643|PMID:31649809
1560612	Phf21a	PHD finger protein 21A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560612	Phf21a	PHD finger protein 21A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1560612	Phf21a	PHD finger protein 21A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560612	Phf21a	PHD finger protein 21A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560614	Flna	filamin A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		IMP		D	RGD:11564351|PMID:22076441	20161116	RGD			
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9883725|PMID:11914408
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:11565112|PMID:11532987	20161121	RGD		DNA:mutations:multiple (human)	
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:11565137|PMID:23873601	20161121	RGD		DNA:deletion:cds:c.7941_7942delCT (human)	
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:1598953|PMID:9883725	20070105	RGD		DNA:mutations:multiple (human)	
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:7240710	20160113	OMIM			
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1	PMID:10982489|PMID:10982965|PMID:11532987|PMID:11914408|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19773341|PMID:20014127|PMID:20186808|PMID:20598277|PMID:20730588|PMID:20844545|PMID:21520333|PMID:21836662|PMID:21960593|PMID:22366253|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24098143|PMID:25167861|PMID:25326637|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28425981|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29024177|PMID:29168297|PMID:29706646|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30561107|PMID:30986657|PMID:31064749|PMID:32738303|PMID:33448881|PMID:3658675|PMID:8290091|PMID:9071288|PMID:9536098|PMID:9800904|PMID:9883725
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1	PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11748843|PMID:11914408|PMID:11968085|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28798025|PMID:28898549|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30293987|PMID:30561107|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31625567|PMID:31919883|PMID:32410215|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:3658675|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1	PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11704759|PMID:11748843|PMID:11914408|PMID:11968085|PMID:11992261|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19006219|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:20979190|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22465605|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28660794|PMID:28798025|PMID:28898549|PMID:28983057|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30224736|PMID:30293987|PMID:30561107|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31919883|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:34858435|PMID:35000503|PMID:36110220|PMID:3658675|PMID:6019437|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar Annotator: match by term: X-linked periventricular heterotopia	PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11704759|PMID:11748843|PMID:11914408|PMID:11968085|PMID:11992261|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19006219|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:20979190|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22465605|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28660794|PMID:28798025|PMID:28898549|PMID:28953922|PMID:28983057|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30224736|PMID:30293987|PMID:30561107|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31919883|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:34858435|PMID:35000503|PMID:36110220|PMID:3658675|PMID:6019437|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1	PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11704759|PMID:11748843|PMID:11914408|PMID:11968085|PMID:11992261|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19006219|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:20979190|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22465605|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25326637|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28660794|PMID:28798025|PMID:28898549|PMID:28953922|PMID:28983057|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30224736|PMID:30293987|PMID:30561107|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31919883|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:34858435|PMID:35000503|PMID:36110220|PMID:3658675|PMID:6019437|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1	PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11704759|PMID:11748843|PMID:11914408|PMID:11968085|PMID:11992261|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19006219|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:20979190|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22465605|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25326637|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28660794|PMID:28798025|PMID:28898549|PMID:28953922|PMID:28983057|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30224736|PMID:30293987|PMID:30561107|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31919883|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:34858435|PMID:35000503|PMID:36110220|PMID:3658675|PMID:6019437|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar Annotator: match by term: X-linked periventricular heterotopia	PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11704759|PMID:11748843|PMID:11914408|PMID:11968085|PMID:11992261|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17190868|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19006219|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:20979190|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22465605|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24200678|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25755106|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28660794|PMID:28798025|PMID:28898549|PMID:28953922|PMID:28983057|PMID:29020406|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30029678|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30224736|PMID:30293987|PMID:30476936|PMID:30561107|PMID:30675029|PMID:30712057|PMID:30739908|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31919883|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:34858435|PMID:35660364|PMID:36110220|PMID:36372407|PMID:3658675|PMID:36734119|PMID:36937954|PMID:37175682|PMID:6019437|PMID:8230166|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar Annotator: match by term: X-linked periventricular heterotopia	PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11704759|PMID:11748843|PMID:11914408|PMID:11968085|PMID:11992261|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17190868|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19006219|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:20979190|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22465605|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24200678|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25326637|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25755106|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28660794|PMID:28798025|PMID:28898549|PMID:28953922|PMID:28983057|PMID:29020406|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30029678|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30224736|PMID:30293987|PMID:30476936|PMID:30561107|PMID:30675029|PMID:30712057|PMID:30739908|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31919883|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:34858435|PMID:35660364|PMID:36110220|PMID:36372407|PMID:3658675|PMID:36734119|PMID:36937954|PMID:37175682|PMID:6019437|PMID:8230166|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR NODULAR, 1 | ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar Annotator: match by term: X-linked periventricular heterotopia | ClinVar Annotator: match by term: periventricular nodular heterotopia	PMID:10982489|PMID:11532987|PMID:11914408|PMID:12612583|PMID:15523633|PMID:16199547|PMID:16299064|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19006219|PMID:19377476|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20955932|PMID:21620354|PMID:21836662|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24200678|PMID:25167861|PMID:25614868|PMID:25686753|PMID:25741868|PMID:25755106|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27091362|PMID:27724990|PMID:28051071|PMID:28133863|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:28898549|PMID:29020406|PMID:29168297|PMID:29575627|PMID:29706646|PMID:29720203|PMID:30003023|PMID:30089473|PMID:30224736|PMID:30561107|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31694657|PMID:31919883|PMID:32233023|PMID:32410215|PMID:32738303|PMID:33057194|PMID:33448881|PMID:33924653|PMID:33942430|PMID:34863227|PMID:35058154|PMID:35478072|PMID:35613087|PMID:35660364|PMID:35982159|PMID:36110220|PMID:36830778|PMID:38539105|PMID:9536098|PMID:9883725
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR NODULAR, 1 | ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Periventricular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar Annotator: match by term: X-linked periventricular heterotopia | ClinVar Annotator: match by term: periventricular nodular heterotopia	PMID:10982489|PMID:11532987|PMID:11914408|PMID:12612583|PMID:15523633|PMID:16199547|PMID:16299064|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19006219|PMID:19377476|PMID:19506109|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20955932|PMID:21620354|PMID:21836662|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24200678|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25755106|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27091362|PMID:27193221|PMID:27724990|PMID:28051071|PMID:28133863|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:28898549|PMID:29020406|PMID:29168297|PMID:29575627|PMID:29706646|PMID:29720203|PMID:30003023|PMID:30089473|PMID:30224736|PMID:30561107|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31694657|PMID:31919883|PMID:32085749|PMID:32233023|PMID:32738303|PMID:33057194|PMID:33448881|PMID:33924653|PMID:33942430|PMID:34277511|PMID:34863227|PMID:35058154|PMID:35478072|PMID:35613087|PMID:35660364|PMID:35982159|PMID:36110220|PMID:36830778|PMID:38539105|PMID:9536098|PMID:9883725
1560614	Flna	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISS	RGD:1558370	D	RGD:13592920	20230718	MouseDO		OMIM:300049 | OMIM:608097 | OMIM:608098 | OMIM:612881 | OMIM:615544	
1560614	Flna	filamin A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560614	Flna	filamin A	gene	DOID:0060260	ptosis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
1560614	Flna	filamin A	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868
1560614	Flna	filamin A	gene	DOID:0060889	prune belly syndrome		ISO	RGD:1354471	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Prune belly syndrome	
1560614	Flna	filamin A	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1354471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction	
1560614	Flna	filamin A	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1354471	D	RGD:11554173	20250902	CTD		CTD Direct Evidence: marker/mechanism	PMID:37740811
1560614	Flna	filamin A	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	
1560614	Flna	filamin A	gene	DOID:0080681	X-linked chronic idiopathic intestinal pseudo-obstruction		ISO	RGD:1354471	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560614	Flna	filamin A	gene	DOID:0080681	X-linked chronic idiopathic intestinal pseudo-obstruction		ISO	RGD:1354471	D	RGD:7240710	20130731	OMIM			
1560614	Flna	filamin A	gene	DOID:0080681	X-linked chronic idiopathic intestinal pseudo-obstruction		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital idiopathic intestinal pseudoobstruction | ClinVar Annotator: match by term: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT | ClinVar Annotator: match by term: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:17576681|PMID:18414213|PMID:20301392|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30089473|PMID:33924653|PMID:35660364|PMID:9536098
1560614	Flna	filamin A	gene	DOID:0080918	polymicrogyria		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:16299064|PMID:16875750|PMID:20301567|PMID:25741868|PMID:28492532|PMID:30089473
1560614	Flna	filamin A	gene	DOID:0081341	congenital myopathy 5		ISO	RGD:1354471	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Salih Myopathy	PMID:25326637|PMID:28492532
1560614	Flna	filamin A	gene	DOID:0090020	split hand-foot malformation		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectrodactyly	PMID:26404489|PMID:28492532
1560614	Flna	filamin A	gene	DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J		ISO	RGD:1354471	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10	PMID:25326637|PMID:28492532
1560614	Flna	filamin A	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
1560614	Flna	filamin A	gene	DOID:0111216	autosomal recessive centronuclear myopathy		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE	PMID:25741868|PMID:28492532|PMID:35660364
1560614	Flna	filamin A	gene	DOID:0111220	centronuclear myopathy 2		ISO	RGD:1354471	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Myopathy, centronuclear, 2	PMID:25741868|PMID:28492532|PMID:35660364
1560614	Flna	filamin A	gene	DOID:0111765	X-linked cardiac valvular dysplasia		ISO	RGD:1354471	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560614	Flna	filamin A	gene	DOID:0111765	X-linked cardiac valvular dysplasia		ISO	RGD:1354471	D	RGD:11565121|PMID:17190868	20161121	RGD		DNA:missense mutations, deletion:cds, exons, introns:multiple (human)	
1560614	Flna	filamin A	gene	DOID:0111765	X-linked cardiac valvular dysplasia		ISO	RGD:1354471	D	RGD:7240710	20130221	OMIM			
1560614	Flna	filamin A	gene	DOID:0111765	X-linked cardiac valvular dysplasia		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIAC VALVULAR DYSPLASIA, X-LINKED | ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked | ClinVar Annotator: match by term: VALVULAR HEART DISEASE, CONGENITAL	PMID:10982489|PMID:12612583|PMID:16299064|PMID:16417552|PMID:16822260|PMID:16875750|PMID:17190868|PMID:17576681|PMID:18414213|PMID:19006219|PMID:20301567|PMID:22522697|PMID:24088041|PMID:24200678|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26686323|PMID:26804200|PMID:28492532|PMID:29020406|PMID:29168297|PMID:29237676|PMID:30089473|PMID:33924653|PMID:35660364|PMID:37586840|PMID:37745857|PMID:39704215|PMID:9536098
1560614	Flna	filamin A	gene	DOID:0111782	otopalatodigital syndrome spectrum disorder		ISO	RGD:1354471	D	RGD:11565126|PMID:15654694	20161121	RGD		DNA:deletion:cds:c.4904_4912del (human)	
1560614	Flna	filamin A	gene	DOID:0111782	otopalatodigital syndrome spectrum disorder		ISO	RGD:1354471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OTOPALATODIGITAL SPECTRUM DISORDER	
1560614	Flna	filamin A	gene	DOID:0111783	otopalatodigital syndrome type 1		ISO	RGD:1354471	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12612583|PMID:15940695|PMID:16596676
1560614	Flna	filamin A	gene	DOID:0111783	otopalatodigital syndrome type 1		ISO	RGD:1354471	D	RGD:1598954|PMID:12612583	20161123	RGD		DNA:missense mutation:cds:p.P207L (human)	
1560614	Flna	filamin A	gene	DOID:0111783	otopalatodigital syndrome type 1		ISO	RGD:1354471	D	RGD:7240710	20130221	OMIM			
1560614	Flna	filamin A	gene	DOID:0111783	otopalatodigital syndrome type 1		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: OPD SYNDROME 1 | ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: OTOPALATODIGITAL SYNDROME, TYPE I | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I	PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:17576681|PMID:18414213|PMID:20301567|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30089473|PMID:33924653|PMID:35660364|PMID:9536098
1560614	Flna	filamin A	gene	DOID:0111784	otopalatodigital syndrome type 2		ISO	RGD:1354471	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12612583|PMID:15378534
1560614	Flna	filamin A	gene	DOID:0111784	otopalatodigital syndrome type 2		ISO	RGD:1354471	D	RGD:1598954|PMID:12612583	20161123	RGD		DNA:missense mutation:cds:p.E254K (human)	
1560614	Flna	filamin A	gene	DOID:0111784	otopalatodigital syndrome type 2		ISO	RGD:1354471	D	RGD:7240710	20130221	OMIM			
1560614	Flna	filamin A	gene	DOID:0111784	otopalatodigital syndrome type 2		ISO	RGD:1354471	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II	PMID:10982489|PMID:11532987|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20979190|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22465605|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26467025|PMID:26471271|PMID:27193221|PMID:27724990|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29720203|PMID:30029678|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30476936|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:36110220|PMID:36734119|PMID:37175682|PMID:6019437|PMID:9071288|PMID:9536098
1560614	Flna	filamin A	gene	DOID:0111784	otopalatodigital syndrome type 2		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: OTOPALATODIGITAL SYNDROME, TYPE II | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II	PMID:10982489|PMID:12612583|PMID:15523633|PMID:16299064|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19006219|PMID:19377476|PMID:19506109|PMID:20301567|PMID:20598277|PMID:20730588|PMID:21836662|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24200678|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:28133863|PMID:28428218|PMID:28492532|PMID:28898549|PMID:29020406|PMID:29168297|PMID:29720203|PMID:30089473|PMID:30561107|PMID:30986657|PMID:31625567|PMID:31694657|PMID:31919883|PMID:32085749|PMID:32233023|PMID:33057194|PMID:34277511|PMID:35478072|PMID:35613087|PMID:35982159|PMID:36830778|PMID:38539105|PMID:9536098
1560614	Flna	filamin A	gene	DOID:0111785	frontometaphyseal dysplasia		ISO	RGD:1354471	D	RGD:11554173	20190326	CTD		CTD Direct Evidence: marker/mechanism	PMID:12612583|PMID:16596676
1560614	Flna	filamin A	gene	DOID:0111785	frontometaphyseal dysplasia		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Frontometaphyseal dysplasia	PMID:10982489|PMID:12612583|PMID:15523633|PMID:15668422|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19006219|PMID:19377476|PMID:19506109|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20955932|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22366253|PMID:22522697|PMID:23032111|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24200678|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27091362|PMID:27193221|PMID:27724990|PMID:28051071|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28660794|PMID:28798025|PMID:28898549|PMID:29020406|PMID:29024177|PMID:29168297|PMID:29575627|PMID:29720203|PMID:29738522|PMID:30003023|PMID:30089473|PMID:30115950|PMID:30391507|PMID:30561107|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31694657|PMID:31919883|PMID:32085749|PMID:32233023|PMID:32592953|PMID:3265608|PMID:32738303|PMID:33057194|PMID:33448881|PMID:33924653|PMID:33994118|PMID:34277511|PMID:34863227|PMID:35058154|PMID:35478072|PMID:35613087|PMID:35660364|PMID:35982159|PMID:36110220|PMID:36372407|PMID:36830778|PMID:38539105|PMID:38958128|PMID:38958168|PMID:6019437|PMID:9536098|PMID:9883725
1560614	Flna	filamin A	gene	DOID:0111786	frontometaphyseal dysplasia 1		ISO	RGD:1354471	D	RGD:11063279|PMID:16835913	20161121	RGD		DNA:missense mutations, deletions:cds:multiple (human)	
1560614	Flna	filamin A	gene	DOID:0111786	frontometaphyseal dysplasia 1		ISO	RGD:1354471	D	RGD:7240710	20130221	OMIM			
1560614	Flna	filamin A	gene	DOID:0111786	frontometaphyseal dysplasia 1		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1	PMID:10982489|PMID:12612583|PMID:15523633|PMID:16417552|PMID:16596676|PMID:16822260|PMID:16835913|PMID:17576681|PMID:18414213|PMID:22522697|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28492532|PMID:30089473|PMID:33924653|PMID:34277511|PMID:35660364|PMID:9536098
1560614	Flna	filamin A	gene	DOID:0111788	Melnick-Needles syndrome		ISO	RGD:1354471	D	RGD:7240710	20200408	OMIM			
1560614	Flna	filamin A	gene	DOID:0111788	Melnick-Needles syndrome		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: OSTEODYSPLASTY OF MELNICK AND NEEDLES | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles	PMID:10982489|PMID:12612583|PMID:15523633|PMID:16199547|PMID:16299064|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19006219|PMID:19377476|PMID:19506109|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20955932|PMID:21620354|PMID:21836662|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24200678|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27091362|PMID:27193221|PMID:27724990|PMID:28051071|PMID:28133863|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:28898549|PMID:29020406|PMID:29168297|PMID:29575627|PMID:29720203|PMID:30003023|PMID:30089473|PMID:30561107|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31694657|PMID:31919883|PMID:32085749|PMID:32233023|PMID:32738303|PMID:33057194|PMID:33448881|PMID:33924653|PMID:34277511|PMID:34863227|PMID:35058154|PMID:35478072|PMID:35613087|PMID:35660364|PMID:35982159|PMID:36110220|PMID:36830778|PMID:38539105|PMID:9536098|PMID:9883725
1560614	Flna	filamin A	gene	DOID:0112149	terminal osseous dysplasia		ISO	RGD:1354471	D	RGD:7240710	20130731	OMIM			
1560614	Flna	filamin A	gene	DOID:0112149	terminal osseous dysplasia		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ODPF SYNDROME | ClinVar Annotator: match by term: TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome	PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:17576681|PMID:18414213|PMID:20301567|PMID:20598277|PMID:22522697|PMID:25614868|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26467025|PMID:28492532|PMID:30561107|PMID:31919883|PMID:33924653|PMID:35660364|PMID:9536098
1560614	Flna	filamin A	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1560614	Flna	filamin A	gene	DOID:1059	intellectual disability		ISO	RGD:1354471	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:10629	microphthalmia		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral microphthalmos	PMID:25741868
1560614	Flna	filamin A	gene	DOID:10907	microcephaly		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
1560614	Flna	filamin A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560614	Flna	filamin A	gene	DOID:11111	hydronephrosis		ISO	RGD:1354471	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:28492532
1560614	Flna	filamin A	gene	DOID:1115	sarcoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560614	Flna	filamin A	gene	DOID:11383	cryptorchidism		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1560614	Flna	filamin A	gene	DOID:11830	myopia		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16299064|PMID:16875750|PMID:20301567|PMID:25741868|PMID:28492532|PMID:30089473
1560614	Flna	filamin A	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	PMID:28492532
1560614	Flna	filamin A	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1560614	Flna	filamin A	gene	DOID:12849	autistic disorder		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:1324	lung cancer		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560614	Flna	filamin A	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1354471	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Ehlers Danlos Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:13515	tuberous sclerosis		ISO	RGD:1354471	D	RGD:11565117|PMID:25277454	20161121	RGD		protein:increased expression:prefrontal cortex (human)	
1560614	Flna	filamin A	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:12612583|PMID:15523633|PMID:16596676|PMID:16835913|PMID:18414213|PMID:25741868|PMID:27193221|PMID:28492532|PMID:30089473|PMID:34277511
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:401851087|PMID:29137225	20231030	RGD		protein:decreased expression:aorta (human)	
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16538226|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20979190|PMID:21320118|PMID:22076441|PMID:22465605|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31942422|PMID:32410215|PMID:32738303|PMID:33448881|PMID:6019437|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16538226|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20979190|PMID:21320118|PMID:22076441|PMID:22465605|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31942422|PMID:32410215|PMID:32738303|PMID:33448881|PMID:34858435|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16538226|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20979190|PMID:21320118|PMID:22076441|PMID:22465605|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33448881|PMID:34858435|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29168297|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29168297|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25326637|PMID:25649377|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29168297|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25326637|PMID:25649377|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29168297|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:35000503|PMID:36110220|PMID:36734119|PMID:37175682|PMID:6019437|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16684786|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:1854572|PMID:18805826|PMID:19377476|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26467025|PMID:26471271|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29237676|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:36110220|PMID:36734119|PMID:37175682|PMID:37745857|PMID:6019437|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16684786|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:1854572|PMID:18805826|PMID:19377476|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25326637|PMID:25649377|PMID:25741868|PMID:26467025|PMID:26471271|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29237676|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:36110220|PMID:36734119|PMID:37175682|PMID:37745857|PMID:39825153|PMID:6019437|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16684786|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:1854572|PMID:18805826|PMID:19377476|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25326637|PMID:25649377|PMID:25741868|PMID:26467025|PMID:26471271|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29237676|PMID:29720203|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30476936|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:36110220|PMID:36734119|PMID:37175682|PMID:37745857|PMID:39825153|PMID:6019437|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:1854572|PMID:18805826|PMID:19377476|PMID:20301567|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25326637|PMID:25649377|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29237676|PMID:29720203|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30476936|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:36110220|PMID:36734119|PMID:37745857|PMID:39825153|PMID:6019437|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:12612583|PMID:16299064|PMID:16417552|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20598277|PMID:21836662|PMID:22522697|PMID:25167861|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29720203|PMID:30089473|PMID:30293987|PMID:30986657|PMID:31069529|PMID:31625567|PMID:32410215|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33924653|PMID:35058154|PMID:35613087|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20598277|PMID:21836662|PMID:22522697|PMID:25167861|PMID:25741868|PMID:26467025|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29720203|PMID:30089473|PMID:30986657|PMID:31069529|PMID:31625567|PMID:32410215|PMID:32738303|PMID:33448881|PMID:33924653|PMID:35058154|PMID:35613087|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12612583|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20598277|PMID:21836662|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26467025|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29720203|PMID:30089473|PMID:30986657|PMID:31069529|PMID:31625567|PMID:32410215|PMID:32738303|PMID:33448881|PMID:33924653|PMID:35058154|PMID:35613087|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:19506109|PMID:21836662|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26467025|PMID:26471271|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29720203|PMID:30089473|PMID:30986657|PMID:31069529|PMID:31625567|PMID:32085749|PMID:32738303|PMID:33448881|PMID:33924653|PMID:35058154|PMID:35613087|PMID:9536098
1560614	Flna	filamin A	gene	DOID:14323	Marfan syndrome		ISO	RGD:1354471	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:28492532
1560614	Flna	filamin A	gene	DOID:14711	FG syndrome		ISO	RGD:1354471	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632775
1560614	Flna	filamin A	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1354471	D	RGD:8554872	20180717	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1	
1560614	Flna	filamin A	gene	DOID:1588	thrombocytopenia		ISO	RGD:1354471	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia | ClinVar Annotator: match by term: thrombocytopenia	PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532
1560614	Flna	filamin A	gene	DOID:1612	breast cancer		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:1657	ventricular septal defect		ISO	RGD:1354471	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:28492532
1560614	Flna	filamin A	gene	DOID:1682	congenital heart disease		ISO	RGD:1354471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:28492532
1560614	Flna	filamin A	gene	DOID:1824	status epilepticus		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:16299064|PMID:16875750|PMID:20301567|PMID:25741868|PMID:28492532|PMID:30089473
1560614	Flna	filamin A	gene	DOID:1826	epilepsy		ISO	RGD:1354471	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11914408
1560614	Flna	filamin A	gene	DOID:1826	epilepsy		ISO	RGD:1354471	D	RGD:11565133|PMID:18596546	20161121	RGD		protein:increased expression:cerebral cortex, astrocyte, perinuclear region of cytoplasm (human)	
1560614	Flna	filamin A	gene	DOID:1826	epilepsy		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:16299064|PMID:16684786|PMID:16875750|PMID:18414213|PMID:20301567|PMID:20730588|PMID:25741868|PMID:26471271|PMID:28492532|PMID:30089473|PMID:31625567|PMID:35613087
1560614	Flna	filamin A	gene	DOID:1829	urethral stricture		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urethral stricture	PMID:25741868
1560614	Flna	filamin A	gene	DOID:1909	melanoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560614	Flna	filamin A	gene	DOID:1923	disorder of sexual development		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:25741868
1560614	Flna	filamin A	gene	DOID:2030	anxiety disorder		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1354471	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12612583
1560614	Flna	filamin A	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1354471	D	RGD:11565455|PMID:25755106	20161123	RGD		associated with Periventricular Nodular Heterotopia;DNA:missense mutation:cds:p.G208R (human)	
1560614	Flna	filamin A	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1354471	D	RGD:1598954|PMID:12612583	20070105	RGD		Melnick-Needles syndrome;DNA:missense mutations:cds:p.A1188T, p.S1199L (human)	
1560614	Flna	filamin A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560614	Flna	filamin A	gene	DOID:2340	craniosynostosis		ISO	RGD:1354471	D	RGD:11531800|PMID:25873011	20161121	RGD		DNA:missense mutations:cds:multiple (human)	
1560614	Flna	filamin A	gene	DOID:2340	craniosynostosis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
1560614	Flna	filamin A	gene	DOID:2841	asthma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:3087	gingivitis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:3275	thymoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560614	Flna	filamin A	gene	DOID:348	blepharochalasis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharochalasis	
1560614	Flna	filamin A	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532|PMID:32233023
1560614	Flna	filamin A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560614	Flna	filamin A	gene	DOID:4362	cervical cancer		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:28492532|PMID:9536098
1560614	Flna	filamin A	gene	DOID:5041	esophageal cancer		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:540	strabismus		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1560614	Flna	filamin A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560614	Flna	filamin A	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1354471	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560614	Flna	filamin A	gene	DOID:630	genetic disease		ISO	RGD:1354471	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:26404489|PMID:28492532
1560614	Flna	filamin A	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:28492532
1560614	Flna	filamin A	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:23032111|PMID:25741868
1560614	Flna	filamin A	gene	DOID:65	connective tissue disease		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532
1560614	Flna	filamin A	gene	DOID:674	cleft palate		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:26404489|PMID:28492532
1560614	Flna	filamin A	gene	DOID:687	hepatoblastoma		ISO	RGD:1354471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:28492532
1560614	Flna	filamin A	gene	DOID:7400	Nijmegen breakage syndrome		ISO	RGD:1354471	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency	PMID:18414213|PMID:25677497|PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal aortic aneurysm	
1560614	Flna	filamin A	gene	DOID:7998	hyperthyroidism		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:824	periodontitis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:8488	polyhydramnios		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1560614	Flna	filamin A	gene	DOID:8577	ulcerative colitis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ulcerative colitis	PMID:28492532
1560614	Flna	filamin A	gene	DOID:9000058	Keloid		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keloid | ClinVar Annotator: match by term: Keloid formation	PMID:25741868
1560614	Flna	filamin A	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:9001224	Striae Distensae		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	
1560614	Flna	filamin A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1560614	Flna	filamin A	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial dissection	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1354471	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1560614	Flna	filamin A	gene	DOID:9001581	Constipation		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1560614	Flna	filamin A	gene	DOID:9001733	Tinnitus		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
1560614	Flna	filamin A	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
1560614	Flna	filamin A	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:9002387	FG Syndrome 2		ISO	RGD:1354471	D	RGD:7240710	20200226	OMIM			
1560614	Flna	filamin A	gene	DOID:9002387	FG Syndrome 2		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FG syndrome 2	PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:22522697|PMID:25167861|PMID:25741868|PMID:26467025|PMID:28133863|PMID:28492532|PMID:29720203|PMID:30089473|PMID:30986657|PMID:33924653|PMID:35660364|PMID:9536098
1560614	Flna	filamin A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:9002914	Familial Sudden Death		ISO	RGD:1354471	D	RGD:8554872	20220222	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death in childhood	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1560614	Flna	filamin A	gene	DOID:9003507	Premature Birth		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:26404489|PMID:28492532
1560614	Flna	filamin A	gene	DOID:9003539	Hyperacusis		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:9003646	Arterial Thrombosis		ISO	RGD:1354471	D	RGD:8554872	20220104	ClinVar		ClinVar Annotator: match by term: Arterial thrombosis	PMID:25741868
1560614	Flna	filamin A	gene	DOID:9003669	Low Back Pain		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Low back pain	
1560614	Flna	filamin A	gene	DOID:9003824	Infectious Encephalitis		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Infectious encephalitis	PMID:16299064|PMID:16875750|PMID:20301567|PMID:25741868|PMID:28492532|PMID:30089473
1560614	Flna	filamin A	gene	DOID:9004240	Phyllodes Tumor		ISO	RGD:1354471	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437033
1560614	Flna	filamin A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354471	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1560614	Flna	filamin A	gene	DOID:9004538	Hearing Loss		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1560614	Flna	filamin A	gene	DOID:9004866	Ataxia		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:28492532
1560614	Flna	filamin A	gene	DOID:9005077	Joint Instability		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:17576681|PMID:23032111|PMID:25741868|PMID:28492532|PMID:29024177|PMID:9536098
1560614	Flna	filamin A	gene	DOID:9005082	Periventricular Nodular Heterotopia 4		ISO	RGD:1354471	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15668422
1560614	Flna	filamin A	gene	DOID:9005082	Periventricular Nodular Heterotopia 4		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4	PMID:10982489|PMID:12612583|PMID:15523633|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19006219|PMID:19377476|PMID:19506109|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:21620354|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24200678|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:28133863|PMID:28428218|PMID:28492532|PMID:28898549|PMID:29020406|PMID:29168297|PMID:29720203|PMID:30089473|PMID:30561107|PMID:30986657|PMID:31625567|PMID:31694657|PMID:31919883|PMID:32085749|PMID:32233023|PMID:33057194|PMID:34277511|PMID:35478072|PMID:35613087|PMID:35982159|PMID:36830778|PMID:38539105|PMID:9536098
1560614	Flna	filamin A	gene	DOID:9005190	Juberg-Hayward Syndrome		ISO	RGD:1354471	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cranio-oro-digital syndrome	PMID:10982489|PMID:11532987|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20979190|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22465605|PMID:22522697|PMID:25167861|PMID:25326637|PMID:25649377|PMID:25741868|PMID:26467025|PMID:26471271|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:30029678|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:36110220|PMID:36734119|PMID:37175682|PMID:6019437|PMID:9071288|PMID:9536098
1560614	Flna	filamin A	gene	DOID:9005190	Juberg-Hayward Syndrome		ISO	RGD:1354471	D	RGD:8554872	20250610	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate with abnormal thumbs and microcephaly | ClinVar Annotator: match by term: Cranio-oro-digital syndrome	PMID:10982489|PMID:11532987|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20979190|PMID:21620354|PMID:21960593|PMID:22465605|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26467025|PMID:26471271|PMID:27193221|PMID:27724990|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29720203|PMID:30029678|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30476936|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:36110220|PMID:36734119|PMID:37175682|PMID:6019437|PMID:9071288|PMID:9536098
1560614	Flna	filamin A	gene	DOID:9005315	Laterality Defects, Autosomal Dominant		ISO	RGD:1354471	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Laterality defects, autosomal dominant	
1560614	Flna	filamin A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354471	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1560614	Flna	filamin A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:9005616	Micrognathism		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:26404489|PMID:28492532
1560614	Flna	filamin A	gene	DOID:9006617	Fatigue		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
1560614	Flna	filamin A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:16299064|PMID:16684786|PMID:16875750|PMID:17576681|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:25614868|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26471271|PMID:28492532|PMID:30089473|PMID:30561107|PMID:31919883|PMID:9536098
1560614	Flna	filamin A	gene	DOID:9007573	Flatfoot		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
1560614	Flna	filamin A	gene	DOID:9007661	Dwarfism		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1560614	Flna	filamin A	gene	DOID:9007736	Vertigo		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:9008023	Memory Disorders		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental Delay | ClinVar Annotator: match by term: Global developmental delay	PMID:28492532|PMID:36937954
1560614	Flna	filamin A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1354471	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437033
1560614	Flna	filamin A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560614	Flna	filamin A	gene	DOID:9009005	Familial Thoracic Aortic Aneurysm 2		ISO	RGD:1354471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560614	Flna	filamin A	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868
1560614	Flna	filamin A	gene	DOID:9827	radioulnar synostosis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Radioulnar synostosis	
1560614	Flna	filamin A	gene	DOID:9834	hyperopia		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1560614	Flna	filamin A	gene	DOID:988	mitral valve prolapse		ISO	RGD:1354471	D	RGD:11565119|PMID:24243761	20161121	RGD		DNA:missense mutation:cds:p.G288R (human)	
1560615	Plxnb3	plexin B3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560615	Plxnb3	plexin B3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1560615	Plxnb3	plexin B3	gene	DOID:10534	stomach cancer		ISO	RGD:1350171	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560615	Plxnb3	plexin B3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560615	Plxnb3	plexin B3	gene	DOID:1115	sarcoma		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560615	Plxnb3	plexin B3	gene	DOID:12849	autistic disorder		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1560615	Plxnb3	plexin B3	gene	DOID:1324	lung cancer		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560615	Plxnb3	plexin B3	gene	DOID:1909	melanoma		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560615	Plxnb3	plexin B3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560615	Plxnb3	plexin B3	gene	DOID:3275	thymoma		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560615	Plxnb3	plexin B3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560615	Plxnb3	plexin B3	gene	DOID:4362	cervical cancer		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560615	Plxnb3	plexin B3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560615	Plxnb3	plexin B3	gene	DOID:5041	esophageal cancer		ISO	RGD:1350171	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560615	Plxnb3	plexin B3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560615	Plxnb3	plexin B3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560615	Plxnb3	plexin B3	gene	DOID:6039	uveal melanoma		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1560615	Plxnb3	plexin B3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350171	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1560615	Plxnb3	plexin B3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1560615	Plxnb3	plexin B3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560615	Plxnb3	plexin B3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1560615	Plxnb3	plexin B3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560616	Zkscan1	zinc finger with KRAB and SCAN domains 1	gene	DOID:10283	prostate cancer		ISO	RGD:1347183	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1560616	Zkscan1	zinc finger with KRAB and SCAN domains 1	gene	DOID:10283	prostate cancer		ISO	RGD:1347183	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1560616	Zkscan1	zinc finger with KRAB and SCAN domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560616	Zkscan1	zinc finger with KRAB and SCAN domains 1	gene	DOID:1059	intellectual disability		ISO	RGD:1347183	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1560616	Zkscan1	zinc finger with KRAB and SCAN domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347183	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560616	Zkscan1	zinc finger with KRAB and SCAN domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347183	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560620	Zfp827	zinc finger protein 827	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560620	Zfp827	zinc finger protein 827	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606144	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1560620	Zfp827	zinc finger protein 827	gene	DOID:10534	stomach cancer		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560620	Zfp827	zinc finger protein 827	gene	DOID:1324	lung cancer		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560620	Zfp827	zinc finger protein 827	gene	DOID:1909	melanoma		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560620	Zfp827	zinc finger protein 827	gene	DOID:3275	thymoma		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560620	Zfp827	zinc finger protein 827	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560620	Zfp827	zinc finger protein 827	gene	DOID:5041	esophageal cancer		ISO	RGD:1606144	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560620	Zfp827	zinc finger protein 827	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560620	Zfp827	zinc finger protein 827	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560628	Duoxa2	dual oxidase maturation factor 2	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1603235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:28492532
1560628	Duoxa2	dual oxidase maturation factor 2	gene	DOID:0112183	familial thyroid dyshormonogenesis		ISO	RGD:1603235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis	PMID:18042646|PMID:23292166|PMID:25741868
1560628	Duoxa2	dual oxidase maturation factor 2	gene	DOID:0112184	thyroid dyshormonogenesis 5		ISO	RGD:1603235	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560628	Duoxa2	dual oxidase maturation factor 2	gene	DOID:0112184	thyroid dyshormonogenesis 5		ISO	RGD:1603235	D	RGD:7240710	20130221	OMIM			
1560628	Duoxa2	dual oxidase maturation factor 2	gene	DOID:0112184	thyroid dyshormonogenesis 5		ISO	RGD:1603235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DUOXA2-related condition | ClinVar Annotator: match by term: THYROID DYSHORMONOGENESIS 5 | ClinVar Annotator: match by term: thyroid dyshormonogenesis 5	PMID:18042646|PMID:23292166|PMID:25675383|PMID:25741868|PMID:28492532|PMID:30110704|PMID:31980526|PMID:32252219|PMID:33651715|PMID:33692749
1560628	Duoxa2	dual oxidase maturation factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560628	Duoxa2	dual oxidase maturation factor 2	gene	DOID:630	genetic disease		ISO	RGD:1603235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1560629	Atpsckmt	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560629	Atpsckmt	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560629	Atpsckmt	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560629	Atpsckmt	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560629	Atpsckmt	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:2394	ovarian cancer		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1560629	Atpsckmt	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1603183	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560629	Atpsckmt	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560629	Atpsckmt	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560629	Atpsckmt	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560629	Atpsckmt	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560629	Atpsckmt	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560634	Slamf1	signaling lymphocytic activation molecule family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1344109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560634	Slamf1	signaling lymphocytic activation molecule family member 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560634	Slamf1	signaling lymphocytic activation molecule family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344109	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560634	Slamf1	signaling lymphocytic activation molecule family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560634	Slamf1	signaling lymphocytic activation molecule family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560635	Itgbl1	integrin subunit beta like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560635	Itgbl1	integrin subunit beta like 1	gene	DOID:1115	sarcoma		ISO	RGD:1348863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560635	Itgbl1	integrin subunit beta like 1	gene	DOID:1909	melanoma		ISO	RGD:1348863	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560635	Itgbl1	integrin subunit beta like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560635	Itgbl1	integrin subunit beta like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348863	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560635	Itgbl1	integrin subunit beta like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560635	Itgbl1	integrin subunit beta like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:1909	melanoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:3275	thymoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1347387	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1560636	Sfi1	SFI1 centrin binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560637	Klrc3	killer cell lectin like receptor C3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346640	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560637	Klrc3	killer cell lectin like receptor C3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346640	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560637	Klrc3	killer cell lectin like receptor C3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560637	Klrc3	killer cell lectin like receptor C3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560637	Klrc3	killer cell lectin like receptor C3	gene	DOID:9256	colorectal cancer		ISO	RGD:1346640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560638	Exoc6b	exocyst complex component 6B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560638	Exoc6b	exocyst complex component 6B	gene	DOID:0112200	spondyloepimetaphyseal dysplasia with joint laxity type 3		ISO	RGD:1349809	D	RGD:7240710	20190515	OMIM			
1560638	Exoc6b	exocyst complex component 6B	gene	DOID:0112200	spondyloepimetaphyseal dysplasia with joint laxity type 3		ISO	RGD:1349809	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EXOC6B-related condition | ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3	PMID:25741868|PMID:26669664|PMID:28492532
1560638	Exoc6b	exocyst complex component 6B	gene	DOID:1909	melanoma		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560638	Exoc6b	exocyst complex component 6B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560638	Exoc6b	exocyst complex component 6B	gene	DOID:3275	thymoma		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560638	Exoc6b	exocyst complex component 6B	gene	DOID:4362	cervical cancer		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560638	Exoc6b	exocyst complex component 6B	gene	DOID:5419	schizophrenia		ISO	RGD:1349809	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1560638	Exoc6b	exocyst complex component 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560638	Exoc6b	exocyst complex component 6B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560638	Exoc6b	exocyst complex component 6B	gene	DOID:9007661	Dwarfism		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23422942|PMID:25256811|PMID:25741868
1560638	Exoc6b	exocyst complex component 6B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560638	Exoc6b	exocyst complex component 6B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560642	Mcph1	microcephalin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560642	Mcph1	microcephalin 1	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1349111	D	RGD:9589036|PMID:23472065	20141105	RGD		mRNA:protein:decreased expression:oral cavity, tissue (human)	
1560642	Mcph1	microcephalin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560642	Mcph1	microcephalin 1	gene	DOID:0070285	primary autosomal recessive microcephaly 1		ISO	RGD:1349111	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1560642	Mcph1	microcephalin 1	gene	DOID:0070285	primary autosomal recessive microcephaly 1		ISO	RGD:1349111	D	RGD:7240710	20141015	OMIM			
1560642	Mcph1	microcephalin 1	gene	DOID:0070285	primary autosomal recessive microcephaly 1		ISO	RGD:1349111	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MCPH1-related condition | ClinVar Annotator: match by term: MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive | ClinVar Annotator: match by term: Premature chromosome condensation with microcephaly and mental retardation | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 1	PMID:12046007|PMID:15199523|PMID:16199547|PMID:16211557|PMID:17576681|PMID:18414213|PMID:20101680|PMID:20301772|PMID:20978018|PMID:22855649|PMID:23281133|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:31130284|PMID:31847883|PMID:33094427|PMID:34402213|PMID:9536098
1560642	Mcph1	microcephalin 1	gene	DOID:0070285	primary autosomal recessive microcephaly 1		ISO	RGD:1349111	D	RGD:9589022|PMID:15199523	20141105	RGD		DNA:insertion:exon:c.427insA (human)	
1560642	Mcph1	microcephalin 1	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1349111	D	RGD:13204748|PMID:22775483	20170718	RGD		DNA:deletion: :p.R393Sfs*50 (human)	
1560642	Mcph1	microcephalin 1	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1349111	D	RGD:13204750|PMID:20978018	20170718	RGD		DNA:mutations:exon, intron:multiple	
1560642	Mcph1	microcephalin 1	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1349111	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive primary microcephaly | ClinVar Annotator: match by term: Primary Autosomal Recessive Microcephaly | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly	PMID:16199547|PMID:18414213|PMID:20978018|PMID:22855649|PMID:25741868|PMID:28492532|PMID:31130284|PMID:33094427
1560642	Mcph1	microcephalin 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1349111	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	
1560642	Mcph1	microcephalin 1	gene	DOID:1059	intellectual disability		ISO	RGD:1349111	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:20949544|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34670123
1560642	Mcph1	microcephalin 1	gene	DOID:1059	intellectual disability		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1560642	Mcph1	microcephalin 1	gene	DOID:10907	microcephaly		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:20978018|PMID:22855649|PMID:25741868|PMID:28492532|PMID:31130284|PMID:34402213
1560642	Mcph1	microcephalin 1	gene	DOID:10907	microcephaly		ISO	RGD:1349111	D	RGD:9589021|PMID:12046007	20141105	RGD		DNA:nonsense mutation:cds:p.S25X (human)	
1560642	Mcph1	microcephalin 1	gene	DOID:10907	microcephaly		ISO	RGD:1557042	D	RGD:13204745|PMID:23683352	20170718	RGD			
1560642	Mcph1	microcephalin 1	gene	DOID:10907	microcephaly		ISS	RGD:1557042	D	RGD:13592920	20180518	MouseDO		OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703	
1560642	Mcph1	microcephalin 1	gene	DOID:10907	microcephaly	no_association	ISO	RGD:1349111	D	RGD:13204744|PMID:19267414	20170718	RGD		DNA:SNP: :c.940G>C (g.37995G>C) (human)	
1560642	Mcph1	microcephalin 1	gene	DOID:1324	lung cancer		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560642	Mcph1	microcephalin 1	gene	DOID:1380	endometrial cancer		ISO	RGD:1349111	D	RGD:9589018|PMID:20638839	20141105	RGD		DNA:deletions:exons:multiple (human)	
1560642	Mcph1	microcephalin 1	gene	DOID:1612	breast cancer	severity	ISO	RGD:1349111	D	RGD:9589038|PMID:23296058	20141105	RGD		DNA:silent mutation, missense mutation:cds:p.S742, p.A761V (rs2912010, rs1057090) (human)	
1560642	Mcph1	microcephalin 1	gene	DOID:1826	epilepsy		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1560642	Mcph1	microcephalin 1	gene	DOID:1909	melanoma		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560642	Mcph1	microcephalin 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1560642	Mcph1	microcephalin 1	gene	DOID:2468	psychotic disorder		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:28492532
1560642	Mcph1	microcephalin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1560642	Mcph1	microcephalin 1	gene	DOID:4451	renal carcinoma		ISO	RGD:1349111	D	RGD:9589037|PMID:25197360	20141105	RGD		protein:decreased expression:kidney (human)	
1560642	Mcph1	microcephalin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560642	Mcph1	microcephalin 1	gene	DOID:480	movement disease		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1560642	Mcph1	microcephalin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560642	Mcph1	microcephalin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560642	Mcph1	microcephalin 1	gene	DOID:630	genetic disease		ISO	RGD:1349111	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:25741868|PMID:28492532
1560642	Mcph1	microcephalin 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1560642	Mcph1	microcephalin 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1349111	D	RGD:9589035|PMID:16872911	20141105	RGD		mRNA:decreased expression:ovary (human)	
1560642	Mcph1	microcephalin 1	gene	DOID:9002762	Ovarian Neoplasms	severity	ISO	RGD:1349111	D	RGD:13204746|PMID:24830737	20170718	RGD		protein:decreased expression:ovary, nucleus	
1560642	Mcph1	microcephalin 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1560642	Mcph1	microcephalin 1	gene	DOID:9003126	Hallucinations		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:28492532
1560642	Mcph1	microcephalin 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1560642	Mcph1	microcephalin 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532
1560642	Mcph1	microcephalin 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1349111	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:20978018|PMID:25741868|PMID:28492532
1560642	Mcph1	microcephalin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1560642	Mcph1	microcephalin 1	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	PMID:20978018|PMID:22855649|PMID:25741868|PMID:31130284
1560642	Mcph1	microcephalin 1	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:1349111	D	RGD:9589027|PMID:20632086	20141105	RGD		protein:decreased expression:breast (human)	
1560642	Mcph1	microcephalin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560644	Gmppa	GDP-mannose pyrophosphorylase A	gene	DOID:0112321	alacrima, achalasia, and impaired intellectual development syndrome		ISO	RGD:1607034	D	RGD:7240710	20140911	OMIM			
1560644	Gmppa	GDP-mannose pyrophosphorylase A	gene	DOID:0112321	alacrima, achalasia, and impaired intellectual development syndrome		ISS	RGD:1557489	D	RGD:13592920	20230718	MouseDO		OMIM:615510	
1560644	Gmppa	GDP-mannose pyrophosphorylase A	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1607034	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1560646	Myo6	myosin VI	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560646	Myo6	myosin VI	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1352294	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:12687499|PMID:18348273|PMID:23767834|PMID:24033266|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26969326|PMID:28492532|PMID:30192042|PMID:30311386|PMID:30582396|PMID:33297549|PMID:39336818|PMID:40592345
1560646	Myo6	myosin VI	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:1352294	D	RGD:8554872	20240820	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss	PMID:25741868
1560646	Myo6	myosin VI	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:11589352|RGD:11644648|RGD:11646372|RGD:11647811|RGD:11648978|RGD:11650803|RGD:11653123|RGD:11656120	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	
1560646	Myo6	myosin VI	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560646	Myo6	myosin VI	gene	DOID:0060058	lymphoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560646	Myo6	myosin VI	gene	DOID:0060733	junctional epidermolysis bullosa with pyloric atresia		ISO	RGD:1352294	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA	PMID:12687499|PMID:18348273|PMID:23767834|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26969326|PMID:28492532|PMID:30582396|PMID:33279834|PMID:33297549
1560646	Myo6	myosin VI	gene	DOID:0060733	junctional epidermolysis bullosa with pyloric atresia		ISO	RGD:1352294	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA	PMID:12687499|PMID:18348273|PMID:23767834|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26969326|PMID:28492532|PMID:30192042|PMID:30311386|PMID:30582396|PMID:33297549|PMID:39336818|PMID:40592345
1560646	Myo6	myosin VI	gene	DOID:0080600	COVID-19		ISO	RGD:1352294	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560646	Myo6	myosin VI	gene	DOID:0110495	autosomal recessive nonsyndromic deafness 37		ISO	RGD:1352294	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560646	Myo6	myosin VI	gene	DOID:0110495	autosomal recessive nonsyndromic deafness 37		ISO	RGD:1352294	D	RGD:7240710	20130221	OMIM			
1560646	Myo6	myosin VI	gene	DOID:0110495	autosomal recessive nonsyndromic deafness 37		ISO	RGD:1352294	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 37 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 37 | ClinVar Annotator: match by term: MYO6-related condition	PMID:11167014|PMID:12687499|PMID:16199547|PMID:17576681|PMID:18348273|PMID:21078986|PMID:23767834|PMID:23990876|PMID:24033266|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26445815|PMID:26944241|PMID:26969326|PMID:26971995|PMID:28492532|PMID:29607572|PMID:30192042|PMID:30311386|PMID:30582396|PMID:32143290|PMID:32747562|PMID:33105617|PMID:33297549|PMID:33724713|PMID:36788145|PMID:39336818|PMID:40592345|PMID:9536098
1560646	Myo6	myosin VI	gene	DOID:0110495	autosomal recessive nonsyndromic deafness 37		ISS	RGD:1557473	D	RGD:13592920	20230718	MouseDO		OMIM:607821	
1560646	Myo6	myosin VI	gene	DOID:0110552	autosomal dominant nonsyndromic deafness 22		ISO	RGD:1352294	D	RGD:7240710	20130221	OMIM			
1560646	Myo6	myosin VI	gene	DOID:0110552	autosomal dominant nonsyndromic deafness 22		ISO	RGD:1352294	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 22 | ClinVar Annotator: match by term: DFNA 22	PMID:12687499|PMID:18348273|PMID:21078986|PMID:23767834|PMID:24033266|PMID:24123366|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26445815|PMID:26969326|PMID:28492532|PMID:28501645|PMID:30192042|PMID:30311386|PMID:30582396|PMID:32143290|PMID:33297549|PMID:39336818|PMID:40592345
1560646	Myo6	myosin VI	gene	DOID:0110552	autosomal dominant nonsyndromic deafness 22		ISS	RGD:1557473	D	RGD:13592920	20230718	MouseDO		OMIM:606346	
1560646	Myo6	myosin VI	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352294	D	RGD:1600556|PMID:11468689	20070314	RGD		DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y	
1560646	Myo6	myosin VI	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
1560646	Myo6	myosin VI	gene	DOID:10283	prostate cancer		ISO	RGD:1352294	D	RGD:2314956|PMID:18543251	20091209	RGD		protein:increased expression:prostate gland epithelium, perinuclear region of cytoplasm	
1560646	Myo6	myosin VI	gene	DOID:10534	stomach cancer		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:12687499|PMID:25741868|PMID:28492532
1560646	Myo6	myosin VI	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy	
1560646	Myo6	myosin VI	gene	DOID:10763	hypertension		IDA		D	RGD:2314963|PMID:16107581	20091210	RGD		protein:altered localization:renal proximal tubule, microvillus	
1560646	Myo6	myosin VI	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1560646	Myo6	myosin VI	gene	DOID:1324	lung cancer		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1560646	Myo6	myosin VI	gene	DOID:1826	epilepsy		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1560646	Myo6	myosin VI	gene	DOID:1909	melanoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560646	Myo6	myosin VI	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1352294	D	RGD:2314958|PMID:15146066	20091210	RGD			
1560646	Myo6	myosin VI	gene	DOID:303	substance-related disorder		ISO	RGD:1352294	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1560646	Myo6	myosin VI	gene	DOID:3275	thymoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560646	Myo6	myosin VI	gene	DOID:3459	breast carcinoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	
1560646	Myo6	myosin VI	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560646	Myo6	myosin VI	gene	DOID:4362	cervical cancer		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560646	Myo6	myosin VI	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560646	Myo6	myosin VI	gene	DOID:4990	essential tremor		ISO	RGD:1352294	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Essential tremor	PMID:12687499|PMID:18348273|PMID:23767834|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26969326|PMID:28492532|PMID:30192042|PMID:30311386|PMID:30582396|PMID:33297549|PMID:39336818|PMID:40592345
1560646	Myo6	myosin VI	gene	DOID:5041	esophageal cancer		ISO	RGD:1352294	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560646	Myo6	myosin VI	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1560646	Myo6	myosin VI	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560646	Myo6	myosin VI	gene	DOID:630	genetic disease		ISO	RGD:1352294	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18212818|PMID:23967202|PMID:23990876|PMID:24033266|PMID:25741868|PMID:25999546|PMID:28492532|PMID:29224747|PMID:29607572|PMID:30582396|PMID:33105617
1560646	Myo6	myosin VI	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560646	Myo6	myosin VI	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532
1560646	Myo6	myosin VI	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352294	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:9536098
1560646	Myo6	myosin VI	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352294	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:12687499|PMID:18348273|PMID:21078986|PMID:23208854|PMID:23767834|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26969326|PMID:28000701|PMID:28492532|PMID:30192042|PMID:30311386|PMID:30582396|PMID:32143290|PMID:33297549|PMID:39336818|PMID:40592345
1560646	Myo6	myosin VI	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1560646	Myo6	myosin VI	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560646	Myo6	myosin VI	gene	DOID:9008768	Sensorineural Deafness with Hypertrophic Cardiomyopathy		ISO	RGD:1352294	D	RGD:8554872	20240924	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	PMID:15060111|PMID:18212818|PMID:18348273|PMID:24033266|PMID:28492532
1560646	Myo6	myosin VI	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560646	Myo6	myosin VI	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560646	Myo6	myosin VI	gene	DOID:9258	Waardenburg syndrome		ISO	RGD:1352294	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Waardenburg syndrome	PMID:25741868
1560646	Myo6	myosin VI	gene	DOID:9849	Meniere's disease		ISO	RGD:1352294	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	PMID:24033266|PMID:28492532
1560649	Tas2r138	taste receptor, type 2, member 138	gene	DOID:1574	alcohol use disorder		ISO	RGD:1346793	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17250611
1560649	Tas2r138	taste receptor, type 2, member 138	gene	DOID:9004935	Thiourea Tasting		ISO	RGD:1346793	D	RGD:7240710	20130221	OMIM			
1560649	Tas2r138	taste receptor, type 2, member 138	gene	DOID:9004935	Thiourea Tasting		ISO	RGD:1346793	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PHENYLTHIOCARBAMIDE TASTING	
1560653	Fam131b	family with sequence similarity 131, member B	gene	DOID:0060058	lymphoma		ISO	RGD:1605421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560653	Fam131b	family with sequence similarity 131, member B	gene	DOID:0080600	COVID-19		ISO	RGD:1605421	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560653	Fam131b	family with sequence similarity 131, member B	gene	DOID:10534	stomach cancer		ISO	RGD:1605421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:1115	sarcoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:3275	thymoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1316739	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560656	Noc3l	NOC3-like DNA replication regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560666	Wwc3	WWC family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560666	Wwc3	WWC family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560666	Wwc3	WWC family member 3	gene	DOID:0060249	scoliosis		ISO	RGD:1601752	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1560666	Wwc3	WWC family member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1601752	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1560666	Wwc3	WWC family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560666	Wwc3	WWC family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1601752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560666	Wwc3	WWC family member 3	gene	DOID:12849	autistic disorder		ISO	RGD:1601752	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1560666	Wwc3	WWC family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1601752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560666	Wwc3	WWC family member 3	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1601752	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1560666	Wwc3	WWC family member 3	gene	DOID:1909	melanoma		ISO	RGD:1601752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560666	Wwc3	WWC family member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560666	Wwc3	WWC family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1601752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560666	Wwc3	WWC family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1601752	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560666	Wwc3	WWC family member 3	gene	DOID:540	strabismus		ISO	RGD:1601752	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1560666	Wwc3	WWC family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560666	Wwc3	WWC family member 3	gene	DOID:9001510	Funnel Chest		ISO	RGD:1601752	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1560666	Wwc3	WWC family member 3	gene	DOID:9001581	Constipation		ISO	RGD:1601752	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1560666	Wwc3	WWC family member 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560666	Wwc3	WWC family member 3	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1601752	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:25741868
1560666	Wwc3	WWC family member 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1601752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1560666	Wwc3	WWC family member 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1601752	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1560666	Wwc3	WWC family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560666	Wwc3	WWC family member 3	gene	DOID:9007573	Flatfoot		ISO	RGD:1601752	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1560666	Wwc3	WWC family member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601752	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1560666	Wwc3	WWC family member 3	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1601752	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868
1560667	Trim67	tripartite motif-containing 67	gene	DOID:1909	melanoma		ISO	RGD:1352641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560667	Trim67	tripartite motif-containing 67	gene	DOID:3070	high grade glioma		ISO	RGD:1352641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560667	Trim67	tripartite motif-containing 67	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560667	Trim67	tripartite motif-containing 67	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560671	Zscan18	zinc finger and SCAN domain containing 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560671	Zscan18	zinc finger and SCAN domain containing 18	gene	DOID:1115	sarcoma		ISO	RGD:1343704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560671	Zscan18	zinc finger and SCAN domain containing 18	gene	DOID:1324	lung cancer		ISO	RGD:1343704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560671	Zscan18	zinc finger and SCAN domain containing 18	gene	DOID:3070	high grade glioma		ISO	RGD:1343704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560671	Zscan18	zinc finger and SCAN domain containing 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560671	Zscan18	zinc finger and SCAN domain containing 18	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560671	Zscan18	zinc finger and SCAN domain containing 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560672	Ccdc190	coiled-coil domain containing 190	gene	DOID:5041	esophageal cancer		ISO	RGD:1606402	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560673	Cibar2	CBY1 interacting BAR domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560673	Cibar2	CBY1 interacting BAR domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603858	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560673	Cibar2	CBY1 interacting BAR domain containing 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1603858	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17435756
1560673	Cibar2	CBY1 interacting BAR domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560675	Tmprss11f	transmembrane serine protease 11F	gene	DOID:1324	lung cancer		ISO	RGD:1602625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560675	Tmprss11f	transmembrane serine protease 11F	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560675	Tmprss11f	transmembrane serine protease 11F	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560678	Rufy4	RUN and FYVE domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1602820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560678	Rufy4	RUN and FYVE domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560678	Rufy4	RUN and FYVE domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560678	Rufy4	RUN and FYVE domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560681	Rad51b	RAD51 paralog B	gene	DOID:10534	stomach cancer		ISO	RGD:1344706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560681	Rad51b	RAD51 paralog B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560681	Rad51b	RAD51 paralog B	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1344706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1560681	Rad51b	RAD51 paralog B	gene	DOID:1612	breast cancer		ISO	RGD:1344706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:16778173|PMID:23001122|PMID:24139550|PMID:26845104
1560681	Rad51b	RAD51 paralog B	gene	DOID:1909	melanoma		ISO	RGD:1344706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560681	Rad51b	RAD51 paralog B	gene	DOID:303	substance-related disorder		ISO	RGD:1344706	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1560681	Rad51b	RAD51 paralog B	gene	DOID:4362	cervical cancer		ISO	RGD:1344706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560681	Rad51b	RAD51 paralog B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560681	Rad51b	RAD51 paralog B	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1344706	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:26898890|PMID:28492532|PMID:32566746
1560681	Rad51b	RAD51 paralog B	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1344706	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:26898890|PMID:28492532|PMID:31159747|PMID:32566746
1560681	Rad51b	RAD51 paralog B	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1344706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:32566746
1560681	Rad51b	RAD51 paralog B	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1344706	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
1560681	Rad51b	RAD51 paralog B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560681	Rad51b	RAD51 paralog B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560681	Rad51b	RAD51 paralog B	gene	DOID:9000357	Male Breast Neoplasms		ISO	RGD:1344706	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23001122
1560681	Rad51b	RAD51 paralog B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344706	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:24139550|PMID:25741868|PMID:26845104|PMID:26898890|PMID:28492532
1560681	Rad51b	RAD51 paralog B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344706	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16778173|PMID:23001122|PMID:24139550|PMID:25741868|PMID:26845104|PMID:26898890|PMID:28492532|PMID:31159747
1560681	Rad51b	RAD51 paralog B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868
1560681	Rad51b	RAD51 paralog B	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1344706	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19330030
1560681	Rad51b	RAD51 paralog B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560681	Rad51b	RAD51 paralog B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:10283	prostate cancer		ISO	RGD:1352696	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:10283	prostate cancer		ISO	RGD:1352696	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:1115	sarcoma		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:11372	megacolon		ISO	RGD:1352696	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:1909	melanoma		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:3070	high grade glioma		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:3275	thymoma		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560686	Sdk1	sidekick cell adhesion molecule 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560691	Camk1d	calcium/calmodulin-dependent protein kinase ID	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560691	Camk1d	calcium/calmodulin-dependent protein kinase ID	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560691	Camk1d	calcium/calmodulin-dependent protein kinase ID	gene	DOID:1115	sarcoma		ISO	RGD:1603628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560691	Camk1d	calcium/calmodulin-dependent protein kinase ID	gene	DOID:1909	melanoma		ISO	RGD:1603628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560691	Camk1d	calcium/calmodulin-dependent protein kinase ID	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560691	Camk1d	calcium/calmodulin-dependent protein kinase ID	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560691	Camk1d	calcium/calmodulin-dependent protein kinase ID	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560691	Camk1d	calcium/calmodulin-dependent protein kinase ID	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560694	Pxdn	peroxidasin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560694	Pxdn	peroxidasin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560694	Pxdn	peroxidasin	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:1607083	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1560694	Pxdn	peroxidasin	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:1607083	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES	PMID:25741868|PMID:26694549|PMID:28492532|PMID:32499604
1560694	Pxdn	peroxidasin	gene	DOID:0080612	anterior segment dysgenesis 7		ISO	RGD:1607083	D	RGD:7240710	20170301	OMIM			
1560694	Pxdn	peroxidasin	gene	DOID:0080612	anterior segment dysgenesis 7		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 7 | ClinVar Annotator: match by term: Anterior segment dysgenesis 7 | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES	PMID:17576681|PMID:21474777|PMID:21907015|PMID:24939590|PMID:25741868|PMID:26694549|PMID:28492532|PMID:32499604|PMID:37644014|PMID:9536098
1560694	Pxdn	peroxidasin	gene	DOID:10534	stomach cancer		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1560694	Pxdn	peroxidasin	gene	DOID:1324	lung cancer		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560694	Pxdn	peroxidasin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560694	Pxdn	peroxidasin	gene	DOID:4362	cervical cancer		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560694	Pxdn	peroxidasin	gene	DOID:5041	esophageal cancer		ISO	RGD:1607083	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560694	Pxdn	peroxidasin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560694	Pxdn	peroxidasin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560694	Pxdn	peroxidasin	gene	DOID:630	genetic disease		ISO	RGD:1607083	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1560694	Pxdn	peroxidasin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1607083	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1560694	Pxdn	peroxidasin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560694	Pxdn	peroxidasin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560694	Pxdn	peroxidasin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607083	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
1560696	Mob3b	MOB kinase activator 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560696	Mob3b	MOB kinase activator 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560696	Mob3b	MOB kinase activator 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560696	Mob3b	MOB kinase activator 3B	gene	DOID:1115	sarcoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560696	Mob3b	MOB kinase activator 3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560696	Mob3b	MOB kinase activator 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560696	Mob3b	MOB kinase activator 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560696	Mob3b	MOB kinase activator 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560696	Mob3b	MOB kinase activator 3B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560707	Lrrtm4	leucine rich repeat transmembrane neuronal 4	gene	DOID:1909	melanoma		ISO	RGD:1352645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560707	Lrrtm4	leucine rich repeat transmembrane neuronal 4	gene	DOID:4362	cervical cancer		ISO	RGD:1352645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560707	Lrrtm4	leucine rich repeat transmembrane neuronal 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1352645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560707	Lrrtm4	leucine rich repeat transmembrane neuronal 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560708	Ostc	oligosaccharyltransferase complex non-catalytic subunit	gene	DOID:0080600	COVID-19		ISO	RGD:1607011	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560708	Ostc	oligosaccharyltransferase complex non-catalytic subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560708	Ostc	oligosaccharyltransferase complex non-catalytic subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560708	Ostc	oligosaccharyltransferase complex non-catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560713	Apof	apolipoprotein F	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344329	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1560713	Apof	apolipoprotein F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560717	Tcaim	T cell activation inhibitor, mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560717	Tcaim	T cell activation inhibitor, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1605240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560717	Tcaim	T cell activation inhibitor, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560717	Tcaim	T cell activation inhibitor, mitochondrial	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560717	Tcaim	T cell activation inhibitor, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1605240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560717	Tcaim	T cell activation inhibitor, mitochondrial	gene	DOID:5041	esophageal cancer		ISO	RGD:1605240	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560717	Tcaim	T cell activation inhibitor, mitochondrial	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560717	Tcaim	T cell activation inhibitor, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560717	Tcaim	T cell activation inhibitor, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560717	Tcaim	T cell activation inhibitor, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560724	Rfx8	regulatory factor X8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2793201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560724	Rfx8	regulatory factor X8	gene	DOID:1115	sarcoma		ISO	RGD:2793201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560724	Rfx8	regulatory factor X8	gene	DOID:1324	lung cancer		ISO	RGD:2793201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560724	Rfx8	regulatory factor X8	gene	DOID:4362	cervical cancer		ISO	RGD:2793201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560724	Rfx8	regulatory factor X8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2793201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560724	Rfx8	regulatory factor X8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2793201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560724	Rfx8	regulatory factor X8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2793201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560724	Rfx8	regulatory factor X8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2793201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560728	Mief2	mitochondrial elongation factor 2	gene	DOID:0112110	combined oxidative phosphorylation deficiency 49		ISO	RGD:1347197	D	RGD:7240710	20200930	OMIM			
1560728	Mief2	mitochondrial elongation factor 2	gene	DOID:0112110	combined oxidative phosphorylation deficiency 49		ISO	RGD:1347197	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 49	
1560732	Lims1	LIM zinc finger domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560732	Lims1	LIM zinc finger domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560732	Lims1	LIM zinc finger domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560732	Lims1	LIM zinc finger domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560732	Lims1	LIM zinc finger domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560732	Lims1	LIM zinc finger domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313937	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560732	Lims1	LIM zinc finger domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560732	Lims1	LIM zinc finger domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560732	Lims1	LIM zinc finger domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1314948	D	RGD:13592920	20181025	MouseDO			
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:0060058	lymphoma		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:10534	stomach cancer		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:1115	sarcoma		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:12849	autistic disorder		ISO	RGD:1314947	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:18621663
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:12849	autistic disorder		ISO	RGD:1314947	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism, susceptibility to, 16 | ClinVar Annotator: match by term: SLC9A9-related condition	PMID:18621663|PMID:25741868|PMID:28492532
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:1314947	D	RGD:7240710	20190502	OMIM			
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:1324	lung cancer		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:3275	thymoma		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:4362	cervical cancer		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:5041	esophageal cancer		ISO	RGD:1314947	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560736	Slc9a9	solute carrier family 9 member A9	gene	DOID:9256	colorectal cancer		ISO	RGD:1314947	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560743	Elf4	E74 like ETS transcription factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560743	Elf4	E74 like ETS transcription factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560743	Elf4	E74 like ETS transcription factor 4	gene	DOID:12849	autistic disorder		ISO	RGD:14351525	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:30208311
1560743	Elf4	E74 like ETS transcription factor 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560743	Elf4	E74 like ETS transcription factor 4	gene	DOID:3275	thymoma		ISO	RGD:1351734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560743	Elf4	E74 like ETS transcription factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560743	Elf4	E74 like ETS transcription factor 4	gene	DOID:9005800	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2		ISO	RGD:1351734	D	RGD:7240710	20220615	OMIM			
1560743	Elf4	E74 like ETS transcription factor 4	gene	DOID:9005800	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2		ISO	RGD:1351734	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 | ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2	PMID:25741868|PMID:27932483
1560743	Elf4	E74 like ETS transcription factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560744	Ark2c	arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C	gene	DOID:0080600	COVID-19		ISO	RGD:1343595	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560744	Ark2c	arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C	gene	DOID:1115	sarcoma		ISO	RGD:1343595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560744	Ark2c	arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C	gene	DOID:1324	lung cancer		ISO	RGD:1343595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560744	Ark2c	arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560744	Ark2c	arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560745	Commd6	COMM domain containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560745	Commd6	COMM domain containing 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560745	Commd6	COMM domain containing 6	gene	DOID:1115	sarcoma		ISO	RGD:1606132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560745	Commd6	COMM domain containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1606132	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560745	Commd6	COMM domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560747	St6galnac2	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560747	St6galnac2	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560747	St6galnac2	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	gene	DOID:1574	alcohol use disorder		IEP		D	RGD:598147064|PMID:9113274	20250422	RGD		mRNA:decreased expression:liver	
1560747	St6galnac2	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1343813	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:17480010
1560747	St6galnac2	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560747	St6galnac2	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560747	St6galnac2	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1605944	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 1	PMID:25741868
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:0110132	Bardet-Biedl syndrome 10		ISO	RGD:1605944	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:0110132	Bardet-Biedl syndrome 10		ISO	RGD:1605944	D	RGD:7240710	20171011	OMIM			
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:0110132	Bardet-Biedl syndrome 10		ISO	RGD:1605944	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BBS10-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-biedl syndrome 1/10, digenic	PMID:16582908|PMID:16823392|PMID:17106446|PMID:17576681|PMID:17980398|PMID:19190184|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21517826|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22958920|PMID:22995991|PMID:23591405|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24488770|PMID:24611592|PMID:24746959|PMID:25133751|PMID:25170860|PMID:25326635|PMID:25366773|PMID:25412400|PMID:25439097|PMID:25741868|PMID:25966130|PMID:25982971|PMID:25988237|PMID:26003401|PMID:26082521|PMID:26273430|PMID:26355662|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27245532|PMID:27385962|PMID:27449316|PMID:2748677|PMID:27486776|PMID:27533158|PMID:27659767|PMID:27788217|PMID:27894351|PMID:27959697|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:29261186|PMID:29806606|PMID:30335236|PMID:30408610|PMID:30577886|PMID:30614526|PMID:30718709|PMID:30767287|PMID:31196119|PMID:31589614|PMID:31639430|PMID:31816670|PMID:31964843|PMID:32359821|PMID:32448990|PMID:32531858|PMID:32686083|PMID:32949114|PMID:33138063|PMID:33169370|PMID:33302505|PMID:33964006|PMID:34426522|PMID:34940782|PMID:35112343|PMID:35835773|PMID:35886001|PMID:36312387|PMID:36460718|PMID:36648511|PMID:37031301|PMID:9536098
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:0110132	Bardet-Biedl syndrome 10		ISO	RGD:1605944	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 10 | ClinVar Annotator: match by term: BBS10-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-Biedl syndrome type 10	PMID:16582908|PMID:16823392|PMID:17106446|PMID:17576681|PMID:17980398|PMID:19190184|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21517826|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22958920|PMID:23591405|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25170860|PMID:25366773|PMID:25412400|PMID:25439097|PMID:25741868|PMID:25982971|PMID:25988237|PMID:26003401|PMID:26082521|PMID:26273430|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27245532|PMID:27385962|PMID:27486776|PMID:27533158|PMID:27659767|PMID:27788217|PMID:27894351|PMID:27959697|PMID:2814343|PMID:28143435|PMID:28492532|PMID:28502102|PMID:28761321|PMID:28808579|PMID:29261186|PMID:29806606|PMID:30335236|PMID:30408610|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31589614|PMID:31639430|PMID:31951329|PMID:31964843|PMID:32359821|PMID:32448990|PMID:32531858|PMID:32835378|PMID:33302505|PMID:33964006|PMID:34122504|PMID:34940782|PMID:35055178|PMID:35112343|PMID:35140360|PMID:35764379|PMID:35835773|PMID:35886001|PMID:36312387|PMID:36325687|PMID:36340607|PMID:36460718|PMID:37031301|PMID:37293956|PMID:37333983|PMID:37431782|PMID:37798099|PMID:38034494|PMID:38219857|PMID:39092430|PMID:39434570|PMID:39533427|PMID:39990901|PMID:6582908|PMID:9536098
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:0110132	Bardet-Biedl syndrome 10		ISS	RGD:1622272	D	RGD:13592920	20230718	MouseDO		OMIM:615987	
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1605944	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16582908|PMID:20498079|PMID:25741868|PMID:28492532|PMID:33046855|PMID:35112343|PMID:37333983
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:10908	hydrocephalus		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:30408610
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1605944	D	RGD:11352646|PMID:24746959	20160929	RGD			
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1605944	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl Syndrome | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:16582908|PMID:16823392|PMID:17576681|PMID:20080638|PMID:20472660|PMID:20498079|PMID:20805367|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21642631|PMID:22410627|PMID:22773737|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25741868|PMID:25982971|PMID:26273430|PMID:26355662|PMID:26518167|PMID:2748677|PMID:27486776|PMID:27659767|PMID:28492532|PMID:28502102|PMID:28991257|PMID:29666954|PMID:29806606|PMID:29947050|PMID:30614526|PMID:31816670|PMID:31963381|PMID:31964843|PMID:32361989|PMID:32531858|PMID:32949114|PMID:33964006|PMID:34426522|PMID:34940782|PMID:35886001|PMID:36648511|PMID:5982971|PMID:9536098
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:2975	cystic kidney disease		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868|PMID:30408610
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:4362	cervical cancer		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:5723	optic atrophy		ISO	RGD:1605944	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:630	genetic disease		ISO	RGD:1605944	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12083524|PMID:21052717|PMID:21209035|PMID:21642631|PMID:25741868|PMID:28492532|PMID:8861908
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:8501	fundus dystrophy		ISO	RGD:1605944	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:20472660|PMID:22773737|PMID:25741868|PMID:25982971|PMID:27486776|PMID:28492532|PMID:35886001
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:9000363	Hematuria		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:25741868|PMID:30408610
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560748	Bbs10	Bardet-Biedl syndrome 10	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:30408610
1560751	Gipc2	GIPC PDZ domain containing family, member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560751	Gipc2	GIPC PDZ domain containing family, member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560751	Gipc2	GIPC PDZ domain containing family, member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:28492532|PMID:31228227|PMID:35848209
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:0060046	aphasia		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aphasia	PMID:25741868|PMID:28492532|PMID:31228227|PMID:35848209
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:0060133	anosognosia		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anosognosia	PMID:25741868|PMID:28492532|PMID:31228227|PMID:35848209
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:0060135	apraxia		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:25741868|PMID:28492532|PMID:31228227|PMID:35848209
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:0110389	retinitis pigmentosa 73		ISO	RGD:1606456	D	RGD:7240710	20160525	OMIM			
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:0110389	retinitis pigmentosa 73		ISO	RGD:1606456	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 73 | ClinVar Annotator: match by term: Retinitis pigmentosa 73	PMID:16199547|PMID:16960811|PMID:17033958|PMID:17576681|PMID:18518886|PMID:19479962|PMID:21910976|PMID:22908982|PMID:25741868|PMID:25859010|PMID:28492532|PMID:29140481|PMID:29870682|PMID:31228227|PMID:32770643|PMID:35848209|PMID:37592806|PMID:37596900|PMID:38219857|PMID:38613342|PMID:38988050|PMID:9536098
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:0111393	mucopolysaccharidosis type IIIC		ISO	RGD:1606456	D	RGD:7240710	20191030	OMIM			
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:0111393	mucopolysaccharidosis type IIIC		ISO	RGD:1606456	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIC (Sanfilippo C) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C	PMID:16199547|PMID:16960811|PMID:17033958|PMID:17397050|PMID:17576681|PMID:18024218|PMID:18518886|PMID:19479962|PMID:19763152|PMID:19823584|PMID:20307669|PMID:20583299|PMID:20825431|PMID:21384162|PMID:21910976|PMID:22406018|PMID:23301227|PMID:24767253|PMID:25326635|PMID:25491247|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25859010|PMID:26287674|PMID:26350204|PMID:27243974|PMID:27608171|PMID:27733599|PMID:27827379|PMID:28041643|PMID:28101780|PMID:28397838|PMID:28468868|PMID:28492532|PMID:28981474|PMID:29140481|PMID:29870682|PMID:30809705|PMID:31228227|PMID:31456290|PMID:31536183|PMID:32581362|PMID:32770643|PMID:33576794|PMID:33578874|PMID:33673364|PMID:33851411|PMID:34326763|PMID:34374989|PMID:34580245|PMID:34795310|PMID:34906470|PMID:35848209|PMID:9536098
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:0111393	mucopolysaccharidosis type IIIC		ISO	RGD:1606456	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIC | ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIC | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C | ClinVar Annotator: match by term: Sanfilippo syndrome C | ClinVar Annotator: match by term: mucopolysaccharidosis type 3C	PMID:16199547|PMID:16960811|PMID:17033958|PMID:17397050|PMID:17576681|PMID:18024218|PMID:18518886|PMID:19479962|PMID:19763152|PMID:19823584|PMID:20307669|PMID:20583299|PMID:20825431|PMID:21384162|PMID:21910976|PMID:22406018|PMID:22908982|PMID:23301227|PMID:24767253|PMID:25491247|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25859010|PMID:26350204|PMID:27243974|PMID:27608171|PMID:27733599|PMID:27827379|PMID:28097321|PMID:28101780|PMID:28397838|PMID:28468868|PMID:28492532|PMID:28981474|PMID:29140481|PMID:29870682|PMID:30809705|PMID:31228227|PMID:31319225|PMID:31964843|PMID:32347150|PMID:32770643|PMID:33576794|PMID:33726816|PMID:33879512|PMID:34349725|PMID:34374989|PMID:34580245|PMID:34795310|PMID:34906470|PMID:35848209|PMID:35887114|PMID:37592806|PMID:37596900|PMID:39062705|PMID:9536098
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:0111393	mucopolysaccharidosis type IIIC		ISS	RGD:1623253	D	RGD:13592920	20260521	MouseDO		OMIM:252930	
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:28492532
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:21910976|PMID:22908982|PMID:25741868|PMID:28492532|PMID:29870682|PMID:31228227|PMID:35848209
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532|PMID:31228227|PMID:35848209
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:12798	mucopolysaccharidosis		ISO	RGD:1606456	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis	PMID:18024218|PMID:19823584|PMID:20583299|PMID:28492532
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1606456	D	RGD:11554173	20191105	CTD		CTD Direct Evidence: marker/mechanism	
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1606456	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sanfilippo disease | ClinVar Annotator: match by term: Sanfilippo syndrome	PMID:16199547|PMID:16960811|PMID:17033958|PMID:18024218|PMID:19479962|PMID:20825431|PMID:2552515|PMID:25741868|PMID:25859010|PMID:26287674|PMID:28468868|PMID:28492532|PMID:31228227|PMID:35848209|PMID:37596900
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1606456	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis type 1	PMID:17033958|PMID:18518886|PMID:19479962|PMID:25741868|PMID:25859010|PMID:28492532|PMID:31228227|PMID:37592806
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:1307	dementia		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:25741868
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:1596	depressive disorder		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532|PMID:31228227|PMID:35848209
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:4188	echolalia		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:25741868|PMID:28492532|PMID:31228227|PMID:35848209
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:4449	macular retinal edema		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular edema	PMID:25741868
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1606456	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:5679	retinal disease		ISO	RGD:1606456	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:17033958|PMID:19479962|PMID:19823584|PMID:20583299|PMID:25741868|PMID:25859010|PMID:27608171|PMID:28041643|PMID:28492532|PMID:28518168|PMID:28981474|PMID:31228227|PMID:31456290|PMID:32461654|PMID:32581362|PMID:32770643|PMID:33576794|PMID:33578874|PMID:33851411|PMID:34326763|PMID:34426522|PMID:34580245|PMID:34758253|PMID:34795310|PMID:34906470|PMID:36819107|PMID:37592806|PMID:37798099|PMID:38219857|PMID:39062705
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:16960811|PMID:17033958|PMID:19479962|PMID:21910976|PMID:22908982|PMID:25741868|PMID:25859010|PMID:28492532|PMID:29140481|PMID:29870682|PMID:31228227|PMID:37596900
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:8501	fundus dystrophy		ISO	RGD:1606456	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17033958|PMID:17576681|PMID:19479962|PMID:21910976|PMID:22908982|PMID:25741868|PMID:28492532|PMID:29140481|PMID:29870682|PMID:31228227|PMID:32770643|PMID:35848209|PMID:38219857|PMID:39462066|PMID:9536098
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:25741868|PMID:28492532|PMID:31228227|PMID:35848209
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Shuffling gait	PMID:25741868|PMID:28492532|PMID:31228227|PMID:35848209
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:9008023	Memory Disorders		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532|PMID:31228227|PMID:35848209
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:9008675	Dyskinesias		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial dyskinesia	PMID:25741868|PMID:28492532|PMID:31228227|PMID:35848209
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
1560755	Hgsnat	heparan-alpha-glucosaminide N-acetyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560757	Drc10	dynein regulatory complex subunit 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560757	Drc10	dynein regulatory complex subunit 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560759	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560759	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560759	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:0060058	lymphoma		ISO	RGD:1347613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560759	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1347613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560759	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:1909	melanoma		ISO	RGD:1347613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560759	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560759	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560759	Pim2	Pim-2 proto-oncogene, serine/threonine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347613	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19458359
1560766	Pid1	phosphotyrosine interaction domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560766	Pid1	phosphotyrosine interaction domain containing 1	gene	DOID:2841	asthma		ISO	RGD:1605994	D	RGD:632527166|PMID:34087431	20260224	RGD		DNA:SNPs: :rs1419958, rs10490031, rs2396616	
1560766	Pid1	phosphotyrosine interaction domain containing 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1605994	D	RGD:632527167|PMID:24737086	20260224	RGD		mRNA:increased expression:lung	
1560766	Pid1	phosphotyrosine interaction domain containing 1	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1605994	D	RGD:632527167|PMID:24737086	20260224	RGD		DNA:SNP: :rs16825116	
1560766	Pid1	phosphotyrosine interaction domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560766	Pid1	phosphotyrosine interaction domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560766	Pid1	phosphotyrosine interaction domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560770	Stard8	StAR-related lipid transfer domain containing 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560770	Stard8	StAR-related lipid transfer domain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1351860	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560770	Stard8	StAR-related lipid transfer domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560770	Stard8	StAR-related lipid transfer domain containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560770	Stard8	StAR-related lipid transfer domain containing 8	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1351860	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:21278247
1560770	Stard8	StAR-related lipid transfer domain containing 8	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1351860	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
1560770	Stard8	StAR-related lipid transfer domain containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560774	Mlxip	MLX interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560774	Mlxip	MLX interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560774	Mlxip	MLX interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560774	Mlxip	MLX interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560774	Mlxip	MLX interacting protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560774	Mlxip	MLX interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1602332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560774	Mlxip	MLX interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560774	Mlxip	MLX interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560774	Mlxip	MLX interacting protein	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1602332	D	RGD:401794443|PMID:23840567	20230829	RGD		DNA:SNP:3'utr: (rs4758685) (human)	
1560774	Mlxip	MLX interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560778	Inka1	inka box actin regulator 1	gene	DOID:0080600	COVID-19		ISO	RGD:1602805	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560778	Inka1	inka box actin regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602805	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560780	Gdpd2	glycerophosphodiester phosphodiesterase domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560780	Gdpd2	glycerophosphodiester phosphodiesterase domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560780	Gdpd2	glycerophosphodiester phosphodiesterase domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346004	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560780	Gdpd2	glycerophosphodiester phosphodiesterase domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560783	Siral2	SIR2 antiphage like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560783	Siral2	SIR2 antiphage like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560783	Siral2	SIR2 antiphage like 2	gene	DOID:1115	sarcoma		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560783	Siral2	SIR2 antiphage like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560783	Siral2	SIR2 antiphage like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345510	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560783	Siral2	SIR2 antiphage like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560783	Siral2	SIR2 antiphage like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560787	Aimp2	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560787	Aimp2	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	gene	DOID:0070404	hypomyelinating leukodystrophy 17		ISO	RGD:1603320	D	RGD:7240710	20190315	OMIM			
1560787	Aimp2	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	gene	DOID:0070404	hypomyelinating leukodystrophy 17		ISO	RGD:1603320	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: AIMP2-related condition | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 17 | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17	PMID:25741868|PMID:28492532|PMID:29215095
1560787	Aimp2	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	gene	DOID:0080600	COVID-19		ISO	RGD:1603320	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560787	Aimp2	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1603320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560787	Aimp2	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:1603320	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18602922|PMID:18809606|PMID:20205264|PMID:21376568|PMID:24068316|PMID:24362816|PMID:25186627|PMID:26895986|PMID:28492532|PMID:30426508
1560787	Aimp2	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603320	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560787	Aimp2	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	gene	DOID:630	genetic disease		ISO	RGD:1603320	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319844	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:0070408	Hengel-Maroofian-Schols syndrome		ISO	RGD:1319844	D	RGD:7240710	20220209	OMIM			
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:0070408	Hengel-Maroofian-Schols syndrome		ISO	RGD:1319844	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HENGEL-MAROOFIAN-SCHOLS SYNDROME | ClinVar Annotator: match by term: Hengel-Maroofian-Schols syndrome	PMID:25741868
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:10534	stomach cancer		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:1115	sarcoma		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:1324	lung cancer		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:1612	breast cancer		ISO	RGD:1319844	D	RGD:2317828|PMID:16855396	20100428	RGD			
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:1909	melanoma		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:4362	cervical cancer		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:630	genetic disease		ISO	RGD:1319844	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319844	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: global developmental delay	
1560788	Bcas3	BCAS3, microtubule associated cell migration factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:0060135	apraxia		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia | ClinVar Annotator: match by term: apraxia	PMID:25741868|PMID:34113008
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1348298	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868|PMID:34113008
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:11782	astigmatism		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:34113008
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:12995	conduct disorder		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Behavior disorder	PMID:25741868|PMID:34113008
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1348298	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: epilepsy	PMID:25741868|PMID:34113008
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:1909	melanoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1348298	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:3275	thymoma		ISO	RGD:1348298	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348298	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:540	strabismus		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:34113008
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:630	genetic disease		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:34113008
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9000495	Tremor		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:34113008
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9000526	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities	PMID:25741868
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:34113008
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348298	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:31678406|PMID:34113008|PMID:35782386
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:34113008
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9004866	Ataxia		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:34113008
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:34113008
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348298	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348298	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:34113008
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9008567	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES		ISO	RGD:1348298	D	RGD:7240710	20221207	OMIM			
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9008567	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES		ISO	RGD:1348298	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARFGEF1-related condition | ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | ClinVar Annotator: match by term: developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	PMID:17640864|PMID:25741868|PMID:34113008
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1348298	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560793	Arfgef1	ARF guanine nucleotide exchange factor 1	gene	DOID:9834	hyperopia		ISO	RGD:1348298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:34113008
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:10534	stomach cancer		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:1115	sarcoma		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:1324	lung cancer		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:1909	melanoma		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:3070	high grade glioma		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:3275	thymoma		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:4362	cervical cancer		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323434	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:5041	esophageal cancer		ISO	RGD:1323434	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560796	Zfp280d	zinc finger protein 280D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560798	Pof1b	POF1B, actin binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560798	Pof1b	POF1B, actin binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560798	Pof1b	POF1B, actin binding protein	gene	DOID:0080859	primary ovarian insufficiency 2B		ISO	RGD:1351618	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560798	Pof1b	POF1B, actin binding protein	gene	DOID:0080859	primary ovarian insufficiency 2B		ISO	RGD:1351618	D	RGD:7240710	20130425	OMIM			
1560798	Pof1b	POF1B, actin binding protein	gene	DOID:0080859	primary ovarian insufficiency 2B		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: POF1B-related condition | ClinVar Annotator: match by term: Premature ovarian failure 2B	PMID:15459172|PMID:25741868|PMID:28492532
1560798	Pof1b	POF1B, actin binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560798	Pof1b	POF1B, actin binding protein	gene	DOID:12849	autistic disorder		ISO	RGD:14351525	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:30208311
1560798	Pof1b	POF1B, actin binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560798	Pof1b	POF1B, actin binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560798	Pof1b	POF1B, actin binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560798	Pof1b	POF1B, actin binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560798	Pof1b	POF1B, actin binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560810	Tnfrsf13c	TNF receptor superfamily member 13C	gene	DOID:0080600	COVID-19		ISO	RGD:1354073	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1560810	Tnfrsf13c	TNF receptor superfamily member 13C	gene	DOID:0081147	common variable immunodeficiency 4		ISO	RGD:1354073	D	RGD:7240710	20190710	OMIM			
1560810	Tnfrsf13c	TNF receptor superfamily member 13C	gene	DOID:0081147	common variable immunodeficiency 4		ISO	RGD:1354073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Common variable immunodeficiency 4 | ClinVar Annotator: match by term: Immunodeficiency, common variable, 4	PMID:17576681|PMID:19666484|PMID:25741868|PMID:28492532|PMID:9536098
1560810	Tnfrsf13c	TNF receptor superfamily member 13C	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1354073	D	RGD:11554173	20190716	CTD		CTD Direct Evidence: marker/mechanism	
1560810	Tnfrsf13c	TNF receptor superfamily member 13C	gene	DOID:1324	lung cancer		ISO	RGD:1354073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560810	Tnfrsf13c	TNF receptor superfamily member 13C	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1354073	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
1560810	Tnfrsf13c	TNF receptor superfamily member 13C	gene	DOID:9000998	Brain Injuries		ISO	RGD:1354073	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
1560814	Tssk4	testis-specific serine kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1345321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560814	Tssk4	testis-specific serine kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560814	Tssk4	testis-specific serine kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560817	Rps6ka6	ribosomal protein S6 kinase A6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560817	Rps6ka6	ribosomal protein S6 kinase A6	gene	DOID:0060058	lymphoma		ISO	RGD:1350176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560817	Rps6ka6	ribosomal protein S6 kinase A6	gene	DOID:1115	sarcoma		ISO	RGD:1350176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560817	Rps6ka6	ribosomal protein S6 kinase A6	gene	DOID:1324	lung cancer		ISO	RGD:1350176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560817	Rps6ka6	ribosomal protein S6 kinase A6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560817	Rps6ka6	ribosomal protein S6 kinase A6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560817	Rps6ka6	ribosomal protein S6 kinase A6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560817	Rps6ka6	ribosomal protein S6 kinase A6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560819	Chsy3	chondroitin sulfate synthase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560819	Chsy3	chondroitin sulfate synthase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560819	Chsy3	chondroitin sulfate synthase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560819	Chsy3	chondroitin sulfate synthase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kartagener syndrome	PMID:11788826|PMID:16627867|PMID:25741868|PMID:28492532|PMID:31443223
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:0050144	Kartagener syndrome		ISS	RGD:1558622	D	RGD:13592920	20180518	MouseDO			
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:0050144	Kartagener syndrome	susceptibility	ISO	RGD:1348406	D	RGD:1601080|PMID:11788826	20070405	RGD		DNA:mutations	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Situs ambiguus	PMID:11788826|PMID:16627867|PMID:19357118|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30290127
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1558622	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348406	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	PMID:11788826|PMID:16627867|PMID:19357118|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30290127
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:1348406	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:1348406	D	RGD:7240710	20130221	OMIM			
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 3 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 3 | ClinVar Annotator: match by term: DNAH5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 | ClinVar Annotator: match by term: primary ciliary dyskinesia 3	PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16627867|PMID:17576681|PMID:18492703|PMID:19357118|PMID:22416021|PMID:23477994|PMID:23891469|PMID:24033266|PMID:25118008|PMID:25186273|PMID:25741868|PMID:26228299|PMID:27618201|PMID:27637300|PMID:27956632|PMID:28492532|PMID:29089047|PMID:29363216|PMID:29402277|PMID:30067075|PMID:30293640|PMID:30300419|PMID:31118369|PMID:31638833|PMID:31772028|PMID:31879361|PMID:32367404|PMID:32502479|PMID:32859249|PMID:32996775|PMID:33589394|PMID:34391405|PMID:36864285|PMID:37260176|PMID:37540677|PMID:37957793|PMID:40183288|PMID:40584616|PMID:9536098
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:0110599	primary ciliary dyskinesia 3		ISS	RGD:1558622	D	RGD:13592920	20230718	MouseDO		OMIM:608644	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:11788826|PMID:16627867|PMID:24498942|PMID:25741868|PMID:28492532|PMID:31765523|PMID:34556108|PMID:36079093|PMID:36980814|PMID:40785399
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:10534	stomach cancer		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:10754	otitis media		ISS	RGD:1558622	D	RGD:13592920	20180518	MouseDO		OMIM:166760	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:1115	sarcoma		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:1324	lung cancer		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:28492532
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:1909	melanoma		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:2841	asthma		ISO	RGD:1348406	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21912604
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:4362	cervical cancer		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:24033266|PMID:25741868|PMID:28492532
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:24033266|PMID:25741868|PMID:28492532
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:4481	allergic rhinitis		ISO	RGD:1348406	D	RGD:640476621|PMID:32082391	20260316	RGD		DNA:SNP: :rs6554809	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:552	pneumonia		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:630	genetic disease		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11788826|PMID:16627867|PMID:28492532
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:6419	tetralogy of Fallot		ISS	RGD:1558622	D	RGD:13592920	20180518	MouseDO		OMIM:187500	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve stenosis	PMID:11788826|PMID:16627867|PMID:25741868|PMID:28492532
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Laterality sequence | ClinVar Annotator: match by term: Situs inversus	PMID:11062149|PMID:11788826|PMID:15750039|PMID:16627867|PMID:19357118|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30067075|PMID:30290127|PMID:31772028|PMID:32502479|PMID:33589394|PMID:40183288
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:9000590	Dyspnea		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25741868
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasal polyposis	PMID:25741868
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1348406	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16492982|PMID:16627867|PMID:17534128|PMID:17576681|PMID:18492703|PMID:18950741|PMID:19357118|PMID:19630565|PMID:19763152|PMID:20301301|PMID:20307669|PMID:2127064|PMID:21270641|PMID:22406018|PMID:22416021|PMID:22499950|PMID:23261302|PMID:23477994|PMID:2389146|PMID:23891469|PMID:24033266|PMID:24150548|PMID:24448499|PMID:24498942|PMID:24905662|PMID:2506606|PMID:25066065|PMID:25118008|PMID:25186273|PMID:25326635|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26228299|PMID:26373788|PMID:26918822|PMID:26938784|PMID:27428751|PMID:27618201|PMID:27637300|PMID:27637763|PMID:27779714|PMID:27988889|PMID:28492532|PMID:28939216|PMID:28976722|PMID:29089047|PMID:29363216|PMID:29402277|PMID:29453417|PMID:30067075|PMID:30148830|PMID:30290127|PMID:30293990|PMID:30300419|PMID:31213628|PMID:31443223|PMID:31469207|PMID:31589614|PMID:31624253|PMID:31638833|PMID:31765523|PMID:31772028|PMID:31879361|PMID:32111882|PMID:32357925|PMID:32367404|PMID:32502479|PMID:32502767|PMID:33574797|PMID:33577779|PMID:33589394|PMID:33635012|PMID:33715250|PMID:9536098
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:28492532
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1348406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Wheezing	PMID:11788826|PMID:16627867|PMID:25741868|PMID:28492532|PMID:30067075
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:9004372	Pulmonary Atelectasis		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atelectasis	PMID:25741868
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868|PMID:28492532
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	PMID:11788826|PMID:16627867|PMID:19357118|PMID:25186273|PMID:26228299|PMID:28492532|PMID:30290127
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16492982|PMID:16627867|PMID:17059358|PMID:17534128|PMID:17576681|PMID:19357118|PMID:19763152|PMID:20301301|PMID:20307669|PMID:2127064|PMID:21270641|PMID:22406018|PMID:22416021|PMID:22499950|PMID:23261302|PMID:23477994|PMID:2389146|PMID:23891469|PMID:24033266|PMID:24150548|PMID:24448499|PMID:24498942|PMID:24905662|PMID:25066065|PMID:25118008|PMID:25186273|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26228299|PMID:26373788|PMID:27637300|PMID:27637763|PMID:27779714|PMID:27956632|PMID:27988889|PMID:28478721|PMID:28492532|PMID:28939216|PMID:28976722|PMID:29089047|PMID:29363216|PMID:29402277|PMID:30067075|PMID:30148830|PMID:30290127|PMID:30293640|PMID:30293987|PMID:30293990|PMID:30300419|PMID:30850195|PMID:30919572|PMID:31118369|PMID:31213628|PMID:31443223|PMID:31469207|PMID:31589614|PMID:31624253|PMID:31638833|PMID:31765523|PMID:31772028|PMID:31879361|PMID:31960620|PMID:32111882|PMID:32253119|PMID:32357925|PMID:32367404|PMID:32470793|PMID:32502479|PMID:32502767|PMID:32522973|PMID:32847546|PMID:32859249|PMID:32996775|PMID:33479112|PMID:33561200|PMID:33577779|PMID:33589394|PMID:33715250|PMID:33760720|PMID:33935161|PMID:33974255|PMID:34134972|PMID:34210339|PMID:34391405|PMID:34556108|PMID:34768622|PMID:34930662|PMID:34940998|PMID:35728977|PMID:35753512|PMID:35886035|PMID:36647814|PMID:36864285|PMID:36980814|PMID:37215141|PMID:37260176|PMID:37540677|PMID:37644014|PMID:37860582|PMID:37957793|PMID:37998386|PMID:38041506|PMID:38206729|PMID:38562900|PMID:39009665|PMID:39045318|PMID:39181709|PMID:39695270|PMID:39875822|PMID:40033371|PMID:40183288|PMID:40694277|PMID:40758541|PMID:9536098
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:9562	primary ciliary dyskinesia		ISS	RGD:1558622	D	RGD:13592920	20180518	MouseDO			
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:9563	bronchiectasis		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:22416021|PMID:25741868|PMID:26228299|PMID:28492532
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:9565	dextrocardia		ISO	RGD:1348406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dextrocardia	PMID:11062149|PMID:11788826|PMID:15750039|PMID:16627867|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30067075|PMID:31772028|PMID:32502479|PMID:33589394|PMID:40183288
1560828	Dnah5	dynein, axonemal, heavy chain 5	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:11788826|PMID:16627867|PMID:25741868|PMID:28492532|PMID:40183288
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:0060040	pervasive developmental disorder		ISO	RGD:1345947	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20442744
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:0060135	apraxia		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:37013900
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:10534	stomach cancer		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:1059	intellectual disability		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868|PMID:37013900
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:10754	otitis media		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:1115	sarcoma		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:11514	fissured tongue		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Furrowed tongue	PMID:37013900
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:11782	astigmatism		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:37013900
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:12273	anisometropia		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anisometropia	PMID:37013900
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:12849	autistic disorder		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:13620	patent foramen ovale		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:2030	anxiety disorder		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:37013900
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:2703	synovitis		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Synovitis	PMID:25741868
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:3275	thymoma		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:4362	cervical cancer		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:5041	esophageal cancer		ISO	RGD:1345947	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:540	strabismus		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:9000495	Tremor		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:37013900
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:9004160	Metrorrhagia		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metrorrhagia	PMID:37013900
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:9004595	Diastema		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diastema	PMID:37013900
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:37013900
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:37013900
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:37013900
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:9007105	Hyperemesis Gravidarum		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperemesis gravidarum	PMID:25741868
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:37013900
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:9840	esotropia		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:37013900
1560833	Mrtfb	myocardin related transcription factor B	gene	DOID:9970	obesity		ISO	RGD:1345947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:37013900
1560834	Zbtb41	zinc finger and BTB domain containing 41	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560834	Zbtb41	zinc finger and BTB domain containing 41	gene	DOID:10534	stomach cancer		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560834	Zbtb41	zinc finger and BTB domain containing 41	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560834	Zbtb41	zinc finger and BTB domain containing 41	gene	DOID:1324	lung cancer		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560834	Zbtb41	zinc finger and BTB domain containing 41	gene	DOID:1909	melanoma		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560834	Zbtb41	zinc finger and BTB domain containing 41	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560834	Zbtb41	zinc finger and BTB domain containing 41	gene	DOID:4362	cervical cancer		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560834	Zbtb41	zinc finger and BTB domain containing 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560834	Zbtb41	zinc finger and BTB domain containing 41	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603485	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560834	Zbtb41	zinc finger and BTB domain containing 41	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560834	Zbtb41	zinc finger and BTB domain containing 41	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560834	Zbtb41	zinc finger and BTB domain containing 41	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560834	Zbtb41	zinc finger and BTB domain containing 41	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560838	Pax9	paired box 9	gene	DOID:0050591	tooth agenesis		ISO	RGD:1352334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis, selective | ClinVar Annotator: match by term: oligodontia	PMID:11827258|PMID:12605438|PMID:14571272|PMID:14607846|PMID:15615874|PMID:16199547|PMID:16236760|PMID:16479262|PMID:17576681|PMID:19429910|PMID:22581971|PMID:24436340|PMID:25741868|PMID:26571067|PMID:28166811|PMID:28492532|PMID:28847717|PMID:28910570|PMID:33078491|PMID:35182440|PMID:37056289|PMID:9536098
1560838	Pax9	paired box 9	gene	DOID:0050591	tooth agenesis		ISS	RGD:1557350	D	RGD:13592920	20180518	MouseDO		OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926	
1560838	Pax9	paired box 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560838	Pax9	paired box 9	gene	DOID:1205	allergic disease		ISO	RGD:1352334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	
1560838	Pax9	paired box 9	gene	DOID:13714	anodontia		ISO	RGD:1352334	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anodontia | ClinVar Annotator: match by term: Partial congenital absence of teeth	PMID:12605438|PMID:19429910|PMID:25741868|PMID:28492532
1560838	Pax9	paired box 9	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1352334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	
1560838	Pax9	paired box 9	gene	DOID:630	genetic disease		ISO	RGD:1352334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1560838	Pax9	paired box 9	gene	DOID:674	cleft palate		ISO	RGD:1557350	D	RGD:12801424|PMID:17097601	20170329	RGD			
1560838	Pax9	paired box 9	gene	DOID:9001581	Constipation		ISO	RGD:1352334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1560838	Pax9	paired box 9	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1352334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
1560838	Pax9	paired box 9	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1352334	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1560838	Pax9	paired box 9	gene	DOID:9007839	Selective Tooth Agenesis 3		ISO	RGD:1352334	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560838	Pax9	paired box 9	gene	DOID:9007839	Selective Tooth Agenesis 3		ISO	RGD:1352334	D	RGD:7240710	20130221	OMIM			
1560838	Pax9	paired box 9	gene	DOID:9007839	Selective Tooth Agenesis 3		ISO	RGD:1352334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPODONTIA/OLIGODONTIA 3 | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 3 | ClinVar Annotator: match by term: Tooth agenesis, selective, 3	PMID:12605438|PMID:12786960|PMID:14571272|PMID:16479262|PMID:18414213|PMID:19429910|PMID:25741868|PMID:28492532|PMID:28910570|PMID:29023497|PMID:30417976|PMID:35897718|PMID:36071541
1560838	Pax9	paired box 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560839	Ttll10	tubulin tyrosine ligase like 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560839	Ttll10	tubulin tyrosine ligase like 10	gene	DOID:10534	stomach cancer		ISO	RGD:1602419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560839	Ttll10	tubulin tyrosine ligase like 10	gene	DOID:1324	lung cancer		ISO	RGD:1602419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560839	Ttll10	tubulin tyrosine ligase like 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560839	Ttll10	tubulin tyrosine ligase like 10	gene	DOID:3275	thymoma		ISO	RGD:1602419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560839	Ttll10	tubulin tyrosine ligase like 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560839	Ttll10	tubulin tyrosine ligase like 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560839	Ttll10	tubulin tyrosine ligase like 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560839	Ttll10	tubulin tyrosine ligase like 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560839	Ttll10	tubulin tyrosine ligase like 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602419	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560840	Spata2L	spermatogenesis associated 2-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560840	Spata2L	spermatogenesis associated 2-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560840	Spata2L	spermatogenesis associated 2-like	gene	DOID:13636	Fanconi anemia		ISO	RGD:1605588	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:11091222|PMID:28492532|PMID:29098742
1560840	Spata2L	spermatogenesis associated 2-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560846	Tex26	testis expressed 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560849	Themis	thymocyte selection associated	gene	DOID:0050589	inflammatory bowel disease		IAGP		D	RGD:38599149|PMID:22275874	20200914	RGD		DNA:frameshift mutation:	
1560849	Themis	thymocyte selection associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560849	Themis	thymocyte selection associated	gene	DOID:10608	celiac disease		ISO	RGD:1603481	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20190752
1560849	Themis	thymocyte selection associated	gene	DOID:1324	lung cancer		ISO	RGD:1603481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560849	Themis	thymocyte selection associated	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560849	Themis	thymocyte selection associated	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560849	Themis	thymocyte selection associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560849	Themis	thymocyte selection associated	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560849	Themis	thymocyte selection associated	gene	DOID:9008671	T-Lymphocytopenia		IAGP		D	RGD:38599149|PMID:22275874	20200914	RGD		DNA:frameshift mutation:	
1560849	Themis	thymocyte selection associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560850	Pik3r6	phosphoinositide-3-kinase, regulatory subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560850	Pik3r6	phosphoinositide-3-kinase, regulatory subunit 6	gene	DOID:1115	sarcoma		ISO	RGD:1353016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560850	Pik3r6	phosphoinositide-3-kinase, regulatory subunit 6	gene	DOID:1324	lung cancer		ISO	RGD:1353016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560850	Pik3r6	phosphoinositide-3-kinase, regulatory subunit 6	gene	DOID:3275	thymoma		ISO	RGD:1353016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560850	Pik3r6	phosphoinositide-3-kinase, regulatory subunit 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560850	Pik3r6	phosphoinositide-3-kinase, regulatory subunit 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560850	Pik3r6	phosphoinositide-3-kinase, regulatory subunit 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560850	Pik3r6	phosphoinositide-3-kinase, regulatory subunit 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560850	Pik3r6	phosphoinositide-3-kinase, regulatory subunit 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560851	Rimklb	ribosomal modification protein rimK-like family member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606518	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560851	Rimklb	ribosomal modification protein rimK-like family member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560851	Rimklb	ribosomal modification protein rimK-like family member B	gene	DOID:3275	thymoma		ISO	RGD:1606518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560851	Rimklb	ribosomal modification protein rimK-like family member B	gene	DOID:4362	cervical cancer		ISO	RGD:1606518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560851	Rimklb	ribosomal modification protein rimK-like family member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560851	Rimklb	ribosomal modification protein rimK-like family member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560851	Rimklb	ribosomal modification protein rimK-like family member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606518	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1560852	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560852	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560852	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560852	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560852	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560852	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560852	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560852	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560852	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560852	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560852	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560852	Thumpd3	THUMP domain 3 tRNA guanosine methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560854	Actmap	actin maturation protease	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560854	Actmap	actin maturation protease	gene	DOID:10534	stomach cancer		ISO	RGD:1604490	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560854	Actmap	actin maturation protease	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560856	Ehd2	EH-domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560856	Ehd2	EH-domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1348695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560856	Ehd2	EH-domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1348695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560856	Ehd2	EH-domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1348695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560856	Ehd2	EH-domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560856	Ehd2	EH-domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560859	Asprv1	aspartic peptidase, retroviral-like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1604987	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1560859	Asprv1	aspartic peptidase, retroviral-like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1604987	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1560859	Asprv1	aspartic peptidase, retroviral-like 1	gene	DOID:1697	ichthyosis		ISO	RGD:12276125	D	RGD:9068941	20250717	OMIA		Ichthyosis, ASPRV1-related	PMID:28249031|PMID:34796560|PMID:34861369|PMID:36006348|PMID:38549226
1560859	Asprv1	aspartic peptidase, retroviral-like 1	gene	DOID:630	genetic disease		ISO	RGD:1604987	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1560859	Asprv1	aspartic peptidase, retroviral-like 1	gene	DOID:9003075	Lamellar Ichthyosis, Autosomal Dominant Form		ISO	RGD:1604987	D	RGD:7240710	20200902	OMIM			
1560859	Asprv1	aspartic peptidase, retroviral-like 1	gene	DOID:9003075	Lamellar Ichthyosis, Autosomal Dominant Form		ISO	RGD:1604987	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant lamellar ichthyosis | ClinVar Annotator: match by term: ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: ichthyosis, lamellar, autosomal dominant	PMID:25741868|PMID:32516568
1560860	Ccdc144a	coiled-coil domain containing 144A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1626599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560860	Ccdc144a	coiled-coil domain containing 144A	gene	DOID:10534	stomach cancer		ISO	RGD:1626599	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560860	Ccdc144a	coiled-coil domain containing 144A	gene	DOID:1115	sarcoma		ISO	RGD:1626599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560860	Ccdc144a	coiled-coil domain containing 144A	gene	DOID:3070	high grade glioma		ISO	RGD:1626599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560860	Ccdc144a	coiled-coil domain containing 144A	gene	DOID:5041	esophageal cancer		ISO	RGD:1626599	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560863	Cdca5	cell division cycle associated 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560863	Cdca5	cell division cycle associated 5	gene	DOID:0080600	COVID-19		ISO	RGD:1350338	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1560863	Cdca5	cell division cycle associated 5	gene	DOID:10534	stomach cancer		ISO	RGD:1350338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560863	Cdca5	cell division cycle associated 5	gene	DOID:1909	melanoma		ISO	RGD:1350338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560863	Cdca5	cell division cycle associated 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560863	Cdca5	cell division cycle associated 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560863	Cdca5	cell division cycle associated 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350338	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1560871	Plxna1	plexin A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560871	Plxna1	plexin A1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868|PMID:28492532|PMID:34054129|PMID:37397528|PMID:40786864
1560871	Plxna1	plexin A1	gene	DOID:0080856	vascular Parkinsonism		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular parkinsonism	PMID:25741868|PMID:28492532|PMID:34054129|PMID:37397528|PMID:40786864
1560871	Plxna1	plexin A1	gene	DOID:0111380	solitary median maxillary central incisor		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome	
1560871	Plxna1	plexin A1	gene	DOID:10534	stomach cancer		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560871	Plxna1	plexin A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560871	Plxna1	plexin A1	gene	DOID:1115	sarcoma		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560871	Plxna1	plexin A1	gene	DOID:12849	autistic disorder		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1560871	Plxna1	plexin A1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease	PMID:25741868|PMID:28492532|PMID:34054129|PMID:37397528|PMID:40786864
1560871	Plxna1	plexin A1	gene	DOID:1826	epilepsy		ISO	RGD:1342576	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	
1560871	Plxna1	plexin A1	gene	DOID:1909	melanoma		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560871	Plxna1	plexin A1	gene	DOID:3070	high grade glioma		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560871	Plxna1	plexin A1	gene	DOID:4362	cervical cancer		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560871	Plxna1	plexin A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342576	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560871	Plxna1	plexin A1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560871	Plxna1	plexin A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560871	Plxna1	plexin A1	gene	DOID:9000727	Syncope		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	
1560871	Plxna1	plexin A1	gene	DOID:9000876	DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME		ISO	RGD:1342576	D	RGD:7240710	20221207	OMIM			
1560871	Plxna1	plexin A1	gene	DOID:9000876	DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Dworschak-Punetha neurodevelopmental syndrome | ClinVar Annotator: match by term: PLXNA1-related condition | ClinVar Annotator: match by term: PLXNA1-related neurodevelopmental disorder	PMID:17576681|PMID:25741868|PMID:28334861|PMID:28492532|PMID:30467832|PMID:34054129|PMID:34415653|PMID:37397528|PMID:40786864|PMID:9536098
1560871	Plxna1	plexin A1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:34054129
1560871	Plxna1	plexin A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560871	Plxna1	plexin A1	gene	DOID:9007661	Dwarfism		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1560871	Plxna1	plexin A1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1560871	Plxna1	plexin A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:0060058	lymphoma		ISO	RGD:1605241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:10534	stomach cancer		ISO	RGD:1605241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:10584	retinitis pigmentosa		ISS	RGD:1620471	D	RGD:13592920	20180518	MouseDO		OMIM:268000	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:1324	lung cancer		ISO	RGD:1605241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:2394	ovarian cancer		ISO	RGD:1605241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:3275	thymoma		ISO	RGD:1605241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:4362	cervical cancer		ISO	RGD:1605241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:5041	esophageal cancer		ISO	RGD:1605241	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:8466	retinal degeneration		ISO	RGD:12351932	D	RGD:9068941	20250501	OMIA		Retinal atrophy, progressive, CCDC66-related	PMID:17327822|PMID:19777273|PMID:22065099|PMID:33273526|PMID:38028226|PMID:38334230
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560873	Ccdc66	coiled-coil domain containing 66	gene	DOID:9256	colorectal cancer		ISO	RGD:1605241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560875	Bag4	BAG cochaperone 4	gene	DOID:0060058	lymphoma		ISO	RGD:1350570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560875	Bag4	BAG cochaperone 4	gene	DOID:10534	stomach cancer		ISO	RGD:1350570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560875	Bag4	BAG cochaperone 4	gene	DOID:1793	pancreatic cancer		ISO	RGD:1350570	D	RGD:2325852|PMID:10799310	20100611	RGD		mRNA:increased expression:pancreas	
1560875	Bag4	BAG cochaperone 4	gene	DOID:3070	high grade glioma		ISO	RGD:1350570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560875	Bag4	BAG cochaperone 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560875	Bag4	BAG cochaperone 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560875	Bag4	BAG cochaperone 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560876	C1qtnf9	C1q and TNF related 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560883	Kiaa0825	KIAA0825 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560883	Kiaa0825	KIAA0825 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560883	Kiaa0825	KIAA0825 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1604483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560883	Kiaa0825	KIAA0825 homolog	gene	DOID:3275	thymoma		ISO	RGD:1604483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560883	Kiaa0825	KIAA0825 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560883	Kiaa0825	KIAA0825 homolog	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1604483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly | ClinVar Annotator: match by term: Postaxial polydactyly	PMID:25741868
1560883	Kiaa0825	KIAA0825 homolog	gene	DOID:9003540	Postaxial Polydactyly, Type A10		ISO	RGD:1604483	D	RGD:7240710	20190731	OMIM			
1560883	Kiaa0825	KIAA0825 homolog	gene	DOID:9003540	Postaxial Polydactyly, Type A10		ISO	RGD:1604483	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KIAA0825-related condition | ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A10 | ClinVar Annotator: match by term: Polydactyly, postaxial, type a10	PMID:25741868|PMID:35886013
1560883	Kiaa0825	KIAA0825 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560883	Kiaa0825	KIAA0825 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560884	Ccdc171	coiled-coil domain containing 171	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560884	Ccdc171	coiled-coil domain containing 171	gene	DOID:10283	prostate cancer		ISO	RGD:1348779	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1560884	Ccdc171	coiled-coil domain containing 171	gene	DOID:10283	prostate cancer		ISO	RGD:1348779	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1560884	Ccdc171	coiled-coil domain containing 171	gene	DOID:1115	sarcoma		ISO	RGD:1348779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560884	Ccdc171	coiled-coil domain containing 171	gene	DOID:1909	melanoma		ISO	RGD:1348779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560884	Ccdc171	coiled-coil domain containing 171	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560884	Ccdc171	coiled-coil domain containing 171	gene	DOID:5041	esophageal cancer		ISO	RGD:1348779	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560884	Ccdc171	coiled-coil domain containing 171	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560884	Ccdc171	coiled-coil domain containing 171	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560884	Ccdc171	coiled-coil domain containing 171	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560884	Ccdc171	coiled-coil domain containing 171	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560884	Ccdc171	coiled-coil domain containing 171	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560884	Ccdc171	coiled-coil domain containing 171	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560887	Atg9b	autophagy related 9B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560887	Atg9b	autophagy related 9B	gene	DOID:1115	sarcoma		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560887	Atg9b	autophagy related 9B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560887	Atg9b	autophagy related 9B	gene	DOID:4362	cervical cancer		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560887	Atg9b	autophagy related 9B	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1352218	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1560887	Atg9b	autophagy related 9B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560887	Atg9b	autophagy related 9B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560887	Atg9b	autophagy related 9B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1560887	Atg9b	autophagy related 9B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1560887	Atg9b	autophagy related 9B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560887	Atg9b	autophagy related 9B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:1059	intellectual disability		ISO	RGD:1348539	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:30905399
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:10908	hydrocephalus		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:1115	sarcoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:12930	dilated cardiomyopathy	susceptibility	ISO	RGD:1348539	D	RGD:155260314|PMID:34815954	20220929	RGD		DNA:SNPs, haplotype:intron: (rs17083838, rs7992670) (human)	
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:1324	lung cancer		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:14289	Ebstein anomaly		ISO	RGD:1348539	D	RGD:8554872	20190611	ClinVar		ClinVar Annotator: match by term: Ebstein anomaly	PMID:25741868
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:1909	melanoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:3275	thymoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:630	genetic disease		ISO	RGD:1348539	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:9001861	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1348539	D	RGD:7240710	20200226	OMIM			
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:9001861	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1348539	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CDK8-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia and behavioral abnormalities	PMID:25741868|PMID:28492532|PMID:30905399|PMID:33958710|PMID:38193604
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:9005745	Stillbirth		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stillbirth	PMID:25741868
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560888	Cdk8	cyclin-dependent kinase 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560889	Ces2h	carboxylesterase 2H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560889	Ces2h	carboxylesterase 2H	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736535	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1560889	Ces2h	carboxylesterase 2H	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560889	Ces2h	carboxylesterase 2H	gene	DOID:1115	sarcoma		ISO	RGD:736535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560889	Ces2h	carboxylesterase 2H	gene	DOID:1909	melanoma		ISO	RGD:736535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560889	Ces2h	carboxylesterase 2H	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560889	Ces2h	carboxylesterase 2H	gene	DOID:3275	thymoma		ISO	RGD:736535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560889	Ces2h	carboxylesterase 2H	gene	DOID:4362	cervical cancer		ISO	RGD:736535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560889	Ces2h	carboxylesterase 2H	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560889	Ces2h	carboxylesterase 2H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560889	Ces2h	carboxylesterase 2H	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736535	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
1560889	Ces2h	carboxylesterase 2H	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:736535	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:19710369
1560889	Ces2h	carboxylesterase 2H	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:736535	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19931604
1560889	Ces2h	carboxylesterase 2H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560889	Ces2h	carboxylesterase 2H	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560891	Zc3h12b	zinc finger CCCH-type containing 12B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560891	Zc3h12b	zinc finger CCCH-type containing 12B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560891	Zc3h12b	zinc finger CCCH-type containing 12B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560891	Zc3h12b	zinc finger CCCH-type containing 12B	gene	DOID:1115	sarcoma		ISO	RGD:1601698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560891	Zc3h12b	zinc finger CCCH-type containing 12B	gene	DOID:4362	cervical cancer		ISO	RGD:1601698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560891	Zc3h12b	zinc finger CCCH-type containing 12B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560891	Zc3h12b	zinc finger CCCH-type containing 12B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560891	Zc3h12b	zinc finger CCCH-type containing 12B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560894	Ccdc175	coiled-coil domain containing 175	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560894	Ccdc175	coiled-coil domain containing 175	gene	DOID:1324	lung cancer		ISO	RGD:1347710	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560894	Ccdc175	coiled-coil domain containing 175	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560894	Ccdc175	coiled-coil domain containing 175	gene	DOID:5041	esophageal cancer		ISO	RGD:1347710	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560896	Slc25a5-ps11	solute carrier family 25 member 5, pseudogene 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560896	Slc25a5-ps11	solute carrier family 25 member 5, pseudogene 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560896	Slc25a5-ps11	solute carrier family 25 member 5, pseudogene 11	gene	DOID:4362	cervical cancer		ISO	RGD:1349745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560896	Slc25a5-ps11	solute carrier family 25 member 5, pseudogene 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560896	Slc25a5-ps11	solute carrier family 25 member 5, pseudogene 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560896	Slc25a5-ps11	solute carrier family 25 member 5, pseudogene 11	gene	DOID:6039	uveal melanoma		ISO	RGD:1349745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1560896	Slc25a5-ps11	solute carrier family 25 member 5, pseudogene 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560898	Spin2a	spindlin family member 2A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348781	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
1560898	Spin2a	spindlin family member 2A	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1348781	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:16099942
1560904	Mageb2	MAGE family member B2	gene	DOID:12849	autistic disorder		ISO	RGD:1350701	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism	
1560904	Mageb2	MAGE family member B2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560906	Gli4	GLI family zinc finger 4	gene	DOID:10534	stomach cancer		ISO	RGD:1354466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560906	Gli4	GLI family zinc finger 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560906	Gli4	GLI family zinc finger 4	gene	DOID:3275	thymoma		ISO	RGD:1354466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560906	Gli4	GLI family zinc finger 4	gene	DOID:4362	cervical cancer		ISO	RGD:1354466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560906	Gli4	GLI family zinc finger 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560906	Gli4	GLI family zinc finger 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560906	Gli4	GLI family zinc finger 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560908	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560908	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560908	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560908	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560908	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560908	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560908	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560908	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560908	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560908	Eif4enif1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560909	Cnot11	CCR4-NOT transcription complex, subunit 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560909	Cnot11	CCR4-NOT transcription complex, subunit 11	gene	DOID:10534	stomach cancer		ISO	RGD:1348103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560909	Cnot11	CCR4-NOT transcription complex, subunit 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560909	Cnot11	CCR4-NOT transcription complex, subunit 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560909	Cnot11	CCR4-NOT transcription complex, subunit 11	gene	DOID:4362	cervical cancer		ISO	RGD:1348103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560909	Cnot11	CCR4-NOT transcription complex, subunit 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1348103	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560909	Cnot11	CCR4-NOT transcription complex, subunit 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560910	Ccdc22	CCC complex scaffolding subunit CCDC22	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560910	Ccdc22	CCC complex scaffolding subunit CCDC22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560910	Ccdc22	CCC complex scaffolding subunit CCDC22	gene	DOID:0060565	Ritscher-Schinzel syndrome		ISO	RGD:1352329	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1560910	Ccdc22	CCC complex scaffolding subunit CCDC22	gene	DOID:0060572	Ritscher-Schinzel syndrome 2		ISO	RGD:1352329	D	RGD:7240710	20151209	OMIM			
1560910	Ccdc22	CCC complex scaffolding subunit CCDC22	gene	DOID:0060572	Ritscher-Schinzel syndrome 2		ISO	RGD:1352329	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CCDC22-related condition | ClinVar Annotator: match by term: RITSCHER-SCHINZEL SYNDROME 2 | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 | ClinVar Annotator: match by term: Ritscher-schinzel syndrome 2	PMID:21826058|PMID:23563313|PMID:24916641|PMID:25644381|PMID:25741868|PMID:28492532|PMID:31971710|PMID:40448120
1560910	Ccdc22	CCC complex scaffolding subunit CCDC22	gene	DOID:1059	intellectual disability		ISO	RGD:1352329	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1560910	Ccdc22	CCC complex scaffolding subunit CCDC22	gene	DOID:3070	high grade glioma		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1560910	Ccdc22	CCC complex scaffolding subunit CCDC22	gene	DOID:4362	cervical cancer		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560910	Ccdc22	CCC complex scaffolding subunit CCDC22	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560910	Ccdc22	CCC complex scaffolding subunit CCDC22	gene	DOID:5041	esophageal cancer		ISO	RGD:1352329	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560910	Ccdc22	CCC complex scaffolding subunit CCDC22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560910	Ccdc22	CCC complex scaffolding subunit CCDC22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560910	Ccdc22	CCC complex scaffolding subunit CCDC22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560910	Ccdc22	CCC complex scaffolding subunit CCDC22	gene	DOID:9970	obesity		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1560911	Cracr2b	calcium release activated channel regulator 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1603869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560911	Cracr2b	calcium release activated channel regulator 2B	gene	DOID:1115	sarcoma		ISO	RGD:1603869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560911	Cracr2b	calcium release activated channel regulator 2B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560911	Cracr2b	calcium release activated channel regulator 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560911	Cracr2b	calcium release activated channel regulator 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560911	Cracr2b	calcium release activated channel regulator 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560913	Fam111a	FAM111 trypsin like peptidase A	gene	DOID:0080723	Kenny-Caffey syndrome type 2		ISO	RGD:1606517	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560913	Fam111a	FAM111 trypsin like peptidase A	gene	DOID:0080723	Kenny-Caffey syndrome type 2		ISO	RGD:1606517	D	RGD:7240710	20141015	OMIM			
1560913	Fam111a	FAM111 trypsin like peptidase A	gene	DOID:0080723	Kenny-Caffey syndrome type 2		ISO	RGD:1606517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 2	PMID:23684011|PMID:25741868
1560913	Fam111a	FAM111 trypsin like peptidase A	gene	DOID:11199	hypoparathyroidism		ISO	RGD:1606517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism	
1560913	Fam111a	FAM111 trypsin like peptidase A	gene	DOID:1682	congenital heart disease		ISO	RGD:1606517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
1560913	Fam111a	FAM111 trypsin like peptidase A	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1606517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:23684011|PMID:23996431|PMID:24635597|PMID:24970356|PMID:25741868|PMID:28492532|PMID:29073591|PMID:32996714
1560913	Fam111a	FAM111 trypsin like peptidase A	gene	DOID:4362	cervical cancer		ISO	RGD:1606517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560913	Fam111a	FAM111 trypsin like peptidase A	gene	DOID:630	genetic disease		ISO	RGD:1606517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:31433868|PMID:34382758
1560913	Fam111a	FAM111 trypsin like peptidase A	gene	DOID:9007661	Dwarfism		ISO	RGD:1606517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1560913	Fam111a	FAM111 trypsin like peptidase A	gene	DOID:9008032	Gracile Bone Dysplasia		ISO	RGD:1606517	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560913	Fam111a	FAM111 trypsin like peptidase A	gene	DOID:9008032	Gracile Bone Dysplasia		ISO	RGD:1606517	D	RGD:7240710	20141015	OMIM			
1560913	Fam111a	FAM111 trypsin like peptidase A	gene	DOID:9008032	Gracile Bone Dysplasia		ISO	RGD:1606517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FAM111A-related condition | ClinVar Annotator: match by term: GRACILE BONE DYSPLASIA | ClinVar Annotator: match by term: Osteocraniostenosis	PMID:23684011|PMID:25741868|PMID:28492532|PMID:36916904
1560913	Fam111a	FAM111 trypsin like peptidase A	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1606517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	
1560913	Fam111a	FAM111 trypsin like peptidase A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1347499	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23542698
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1347499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:23274426|PMID:23542698|PMID:24511134|PMID:25135762|PMID:25443527|PMID:25741868|PMID:25854283|PMID:26018111|PMID:28056875|PMID:28117080|PMID:28492532|PMID:28496993|PMID:28526779|PMID:29500241|PMID:29590070|PMID:29610995|PMID:29869118|PMID:32091318|PMID:32386968|PMID:32413569|PMID:32424742|PMID:32838746|PMID:33238263|PMID:34267444|PMID:36113832|PMID:37744338
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome	PMID:25741868|PMID:28492532
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:0080388	nephrotic syndrome type 7		ISO	RGD:1347499	D	RGD:7240710	20260729	OMIM			
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:0080388	nephrotic syndrome type 7		ISO	RGD:1347499	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DGKE-related condition | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 7 | ClinVar Annotator: match by term: Nephrotic syndrome, type 7	PMID:19329342|PMID:23274426|PMID:23542698|PMID:25135762|PMID:25349199|PMID:25443527|PMID:25741868|PMID:25854283|PMID:26283675|PMID:28056875|PMID:28117080|PMID:28492532|PMID:28496993|PMID:28526779|PMID:29127259|PMID:29590070|PMID:29869118|PMID:31331711|PMID:32386968|PMID:32413569|PMID:32424742|PMID:32838746|PMID:34267444|PMID:34269512|PMID:36988693|PMID:37433757|PMID:37456562|PMID:37466676
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:1347499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hemolytic-uremic syndrome	PMID:23274426|PMID:23542698|PMID:25135762|PMID:25741868|PMID:25854283|PMID:28117080|PMID:28492532|PMID:28496993|PMID:28526779|PMID:29590070|PMID:29869118|PMID:32386968|PMID:32413569|PMID:32424742|PMID:34269512|PMID:36988693|PMID:37433757|PMID:37466676
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:1588	thrombocytopenia		ISO	RGD:1347499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:23274426|PMID:23542698|PMID:25135762|PMID:25741868|PMID:25854283|PMID:28117080|PMID:28492532|PMID:28496993|PMID:28526779|PMID:29590070|PMID:29869118|PMID:32386968|PMID:32413569|PMID:32424742
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:3021	acute kidney failure		ISO	RGD:1347499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	PMID:23274426|PMID:23542698|PMID:25135762|PMID:25741868|PMID:25854283|PMID:28117080|PMID:28492532|PMID:28496993|PMID:28526779|PMID:29590070|PMID:29869118|PMID:32386968|PMID:32413569|PMID:32424742
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:540	strabismus		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:23274426|PMID:23542698|PMID:25741868|PMID:28492532|PMID:34269512|PMID:36988693|PMID:37433757|PMID:37466676
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:557	kidney disease		ISO	RGD:1347499	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:25741868|PMID:28492532|PMID:29440240
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1347499	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:38922859
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:576	proteinuria		ISO	RGD:1347499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:23274426|PMID:23542698|PMID:25135762|PMID:25741868|PMID:25854283|PMID:28117080|PMID:28492532|PMID:28496993|PMID:28526779|PMID:29590070|PMID:29869118|PMID:32386968|PMID:32413569|PMID:32424742|PMID:34269512|PMID:36988693|PMID:37433757|PMID:37466676
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:630	genetic disease		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:38374836
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:783	end stage renal disease		ISO	RGD:1347499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:23274426|PMID:23542698|PMID:25135762|PMID:25741868|PMID:25854283|PMID:28117080|PMID:28492532|PMID:28496993|PMID:28526779|PMID:29590070|PMID:29869118|PMID:32386968|PMID:32413569|PMID:32424742
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:784	chronic kidney disease		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease | ClinVar Annotator: match by term: chronic kidney disease	PMID:23274426|PMID:23542698|PMID:25741868|PMID:28492532|PMID:34269512|PMID:36988693|PMID:37433757|PMID:37466676
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:19329342|PMID:25741868|PMID:28492532|PMID:31331711
1560914	Dgke	diacylglycerol kinase epsilon	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:23274426|PMID:23542698|PMID:25741868|PMID:28492532|PMID:34269512|PMID:36988693|PMID:37433757|PMID:37466676
1560915	Tspan33	tetraspanin 33	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560915	Tspan33	tetraspanin 33	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560915	Tspan33	tetraspanin 33	gene	DOID:1115	sarcoma		ISO	RGD:1604171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560915	Tspan33	tetraspanin 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560915	Tspan33	tetraspanin 33	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560915	Tspan33	tetraspanin 33	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560916	Fundc2	FUN14 domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560916	Fundc2	FUN14 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560916	Fundc2	FUN14 domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560916	Fundc2	FUN14 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560916	Fundc2	FUN14 domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560916	Fundc2	FUN14 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560916	Fundc2	FUN14 domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560924	Klhl42	kelch-like family, member 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560924	Klhl42	kelch-like family, member 42	gene	DOID:1115	sarcoma		ISO	RGD:1348247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560924	Klhl42	kelch-like family, member 42	gene	DOID:1324	lung cancer		ISO	RGD:1348247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560924	Klhl42	kelch-like family, member 42	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560924	Klhl42	kelch-like family, member 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560924	Klhl42	kelch-like family, member 42	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560932	Ppp4r4	protein phosphatase 4, regulatory subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560932	Ppp4r4	protein phosphatase 4, regulatory subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560932	Ppp4r4	protein phosphatase 4, regulatory subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1344077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560932	Ppp4r4	protein phosphatase 4, regulatory subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1344077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560932	Ppp4r4	protein phosphatase 4, regulatory subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1344077	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560932	Ppp4r4	protein phosphatase 4, regulatory subunit 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560932	Ppp4r4	protein phosphatase 4, regulatory subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560934	Nup42	nucleoporin 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344412	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560934	Nup42	nucleoporin 42	gene	DOID:10534	stomach cancer		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560934	Nup42	nucleoporin 42	gene	DOID:1324	lung cancer		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560934	Nup42	nucleoporin 42	gene	DOID:4362	cervical cancer		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560934	Nup42	nucleoporin 42	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560934	Nup42	nucleoporin 42	gene	DOID:5041	esophageal cancer		ISO	RGD:1344412	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560934	Nup42	nucleoporin 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560934	Nup42	nucleoporin 42	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560934	Nup42	nucleoporin 42	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1560934	Nup42	nucleoporin 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560934	Nup42	nucleoporin 42	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344412	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560935	Plcxd1	phosphatidylinositol-specific phospholipase C, X domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560935	Plcxd1	phosphatidylinositol-specific phospholipase C, X domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560935	Plcxd1	phosphatidylinositol-specific phospholipase C, X domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560935	Plcxd1	phosphatidylinositol-specific phospholipase C, X domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560935	Plcxd1	phosphatidylinositol-specific phospholipase C, X domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1560935	Plcxd1	phosphatidylinositol-specific phospholipase C, X domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560935	Plcxd1	phosphatidylinositol-specific phospholipase C, X domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560935	Plcxd1	phosphatidylinositol-specific phospholipase C, X domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560935	Plcxd1	phosphatidylinositol-specific phospholipase C, X domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560935	Plcxd1	phosphatidylinositol-specific phospholipase C, X domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560935	Plcxd1	phosphatidylinositol-specific phospholipase C, X domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560935	Plcxd1	phosphatidylinositol-specific phospholipase C, X domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560938	Selenoi	selenoprotein I	gene	DOID:0112349	hereditary spastic paraplegia 81		ISO	RGD:1604559	D	RGD:7240710	20200226	OMIM			
1560938	Selenoi	selenoprotein I	gene	DOID:0112349	hereditary spastic paraplegia 81		ISO	RGD:1604559	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SELENOI-related condition | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 81, autosomal recessive	PMID:25741868
1560938	Selenoi	selenoprotein I	gene	DOID:10534	stomach cancer		ISO	RGD:1604559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560938	Selenoi	selenoprotein I	gene	DOID:1115	sarcoma		ISO	RGD:1604559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560938	Selenoi	selenoprotein I	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560938	Selenoi	selenoprotein I	gene	DOID:4362	cervical cancer		ISO	RGD:1604559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560938	Selenoi	selenoprotein I	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1604559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1560938	Selenoi	selenoprotein I	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1604559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1560938	Selenoi	selenoprotein I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560938	Selenoi	selenoprotein I	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560948	Fam24a	family with sequence similarity 24, member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1342610	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560953	Tmem208	transmembrane protein 208	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:0060328	anal fistula		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anal fistula	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1560953	Tmem208	transmembrane protein 208	gene	DOID:10175	optic papillitis		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic papillitis	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:10488	imperforate anus		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:10611	protein-losing enteropathy		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Protein-losing enteropathy	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:10629	microphthalmia		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:10907	microcephaly		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:1115	sarcoma		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560953	Tmem208	transmembrane protein 208	gene	DOID:1143	exotropia		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:13620	patent foramen ovale		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:13929	lacrimal duct obstruction		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasolacrimal duct obstruction	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:14415	Legg-Calve-Perthes disease		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Legg-Calve-Perthes disease	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:1657	ventricular septal defect		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:2846	bruxism		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:3275	thymoma		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560953	Tmem208	transmembrane protein 208	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560953	Tmem208	transmembrane protein 208	gene	DOID:9000343	Vision Disorders		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:9001031	Retrognathia		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:9001738	Hypercalciuria		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalciuria	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:9007661	Dwarfism		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1560953	Tmem208	transmembrane protein 208	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560953	Tmem208	transmembrane protein 208	gene	DOID:9834	hyperopia		ISO	RGD:1605689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:0060058	lymphoma		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:0060536	mitochondrial complex I deficiency		ISS	RGD:1615142	D	RGD:13592920	20190214	MouseDO		OMIM:252010	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:0112099	nuclear type mitochondrial complex I deficiency 12		ISO	RGD:1350497	D	RGD:7240710	20190315	OMIM			
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:0112099	nuclear type mitochondrial complex I deficiency 12		ISO	RGD:1350497	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 12	PMID:25741868
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:1115	sarcoma		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:2394	ovarian cancer		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:4362	cervical cancer		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350497	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:630	genetic disease		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560955	Ndufa1	NADH:ubiquinone oxidoreductase subunit A1	gene	DOID:9256	colorectal cancer		ISO	RGD:1350497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560956	Anxa10	annexin A10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560956	Anxa10	annexin A10	gene	DOID:10534	stomach cancer		ISO	RGD:1318989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560956	Anxa10	annexin A10	gene	DOID:1115	sarcoma		ISO	RGD:1318989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560956	Anxa10	annexin A10	gene	DOID:1793	pancreatic cancer		ISO	RGD:1318989	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:28369074
1560956	Anxa10	annexin A10	gene	DOID:4362	cervical cancer		ISO	RGD:1318989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560956	Anxa10	annexin A10	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1318989	D	RGD:153344586|PMID:35693827	20220829	RGD		mRNA:decreased expression:liver (human)	
1560956	Anxa10	annexin A10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560957	Etaa1	ETAA1 activator of ATR kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560957	Etaa1	ETAA1 activator of ATR kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560957	Etaa1	ETAA1 activator of ATR kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1604009	D	RGD:11554173	20230815	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098869
1560957	Etaa1	ETAA1 activator of ATR kinase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1560957	Etaa1	ETAA1 activator of ATR kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1560957	Etaa1	ETAA1 activator of ATR kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560957	Etaa1	ETAA1 activator of ATR kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604009	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560957	Etaa1	ETAA1 activator of ATR kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560960	Hook3	hook microtubule-tethering protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560960	Hook3	hook microtubule-tethering protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560960	Hook3	hook microtubule-tethering protein 3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1346925	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1560960	Hook3	hook microtubule-tethering protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1346925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560960	Hook3	hook microtubule-tethering protein 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1346925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1560960	Hook3	hook microtubule-tethering protein 3	gene	DOID:3275	thymoma		ISO	RGD:1346925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560960	Hook3	hook microtubule-tethering protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1346925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560960	Hook3	hook microtubule-tethering protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1560960	Hook3	hook microtubule-tethering protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1346925	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560960	Hook3	hook microtubule-tethering protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560960	Hook3	hook microtubule-tethering protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560960	Hook3	hook microtubule-tethering protein 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1346925	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1560960	Hook3	hook microtubule-tethering protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560964	Fam50a	family with sequence similarity 50, member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560964	Fam50a	family with sequence similarity 50, member A	gene	DOID:0050764	Armfield syndrome		ISO	RGD:1344714	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1560964	Fam50a	family with sequence similarity 50, member A	gene	DOID:0050764	Armfield syndrome		ISO	RGD:1344714	D	RGD:7240710	20200902	OMIM			
1560964	Fam50a	family with sequence similarity 50, member A	gene	DOID:0050764	Armfield syndrome		ISO	RGD:1344714	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Armfield syndrome | ClinVar Annotator: match by term: FAM50A-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE	PMID:25741868
1560964	Fam50a	family with sequence similarity 50, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560964	Fam50a	family with sequence similarity 50, member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560964	Fam50a	family with sequence similarity 50, member A	gene	DOID:4362	cervical cancer		ISO	RGD:1344714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560964	Fam50a	family with sequence similarity 50, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560964	Fam50a	family with sequence similarity 50, member A	gene	DOID:630	genetic disease		ISO	RGD:1344714	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1560964	Fam50a	family with sequence similarity 50, member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560964	Fam50a	family with sequence similarity 50, member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1351498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:22578326|PMID:22987632|PMID:25741868|PMID:28492532
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1351498	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1351498	D	RGD:11552574|PMID:21348867	20161011	RGD		DNA:nonsense mutation:exon:c.1684C>T(p.Q562X(human)	
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1351498	D	RGD:11552577|PMID:20602914	20161011	RGD		DNA:nonsense mutation:cds:p.R127X(human)	
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:11830	myopia		ISO	RGD:1351498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:22578326|PMID:22987632|PMID:25741868|PMID:28492532
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1351498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:22578326|PMID:22987632|PMID:25741868|PMID:28492532
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:1826	epilepsy		ISO	RGD:1351498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22578326|PMID:22987632|PMID:25741868|PMID:28492532
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:1909	melanoma		ISO	RGD:1351498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:3275	thymoma		ISO	RGD:1351498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:630	genetic disease		ISO	RGD:1351498	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:9000177	Chudley-Mccullough syndrome		ISO	RGD:1351498	D	RGD:11062393|PMID:22578326	20161011	RGD		DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human);	
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:9000177	Chudley-Mccullough syndrome		ISO	RGD:1351498	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22578326
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:9000177	Chudley-Mccullough syndrome		ISO	RGD:1351498	D	RGD:7240710	20130221	OMIM			
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:9000177	Chudley-Mccullough syndrome		ISO	RGD:1351498	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CHUDLEY-MCCULLOUGH SYNDROME | ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: GPSM2-Related Disorders | ClinVar Annotator: match by term: GPSM2-related condition	PMID:10449658|PMID:17576681|PMID:22578326|PMID:22987632|PMID:23208854|PMID:23494849|PMID:24033266|PMID:25741868|PMID:26445815|PMID:26467025|PMID:26561413|PMID:27312216|PMID:28492532|PMID:32747562|PMID:36633841|PMID:9536098
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1351498	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:22578326|PMID:22987632|PMID:25741868|PMID:28492532
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:9008681	Deafness		ISO	RGD:1351498	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	
1560967	Gpsm2	G-protein signaling modulator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1560978	Bbof1	basal body orientation factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560978	Bbof1	basal body orientation factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560978	Bbof1	basal body orientation factor 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1346239	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1560978	Bbof1	basal body orientation factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346239	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560978	Bbof1	basal body orientation factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560978	Bbof1	basal body orientation factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560978	Bbof1	basal body orientation factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1346239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1560982	Wdr13	WD repeat domain 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560982	Wdr13	WD repeat domain 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560982	Wdr13	WD repeat domain 13	gene	DOID:10485	esophageal atresia		ISO	RGD:1347566	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
1560982	Wdr13	WD repeat domain 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560982	Wdr13	WD repeat domain 13	gene	DOID:1909	melanoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560982	Wdr13	WD repeat domain 13	gene	DOID:4362	cervical cancer		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560982	Wdr13	WD repeat domain 13	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1560982	Wdr13	WD repeat domain 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560982	Wdr13	WD repeat domain 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560982	Wdr13	WD repeat domain 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560989	Spocd1	SPOC domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1560989	Spocd1	SPOC domain containing 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1345460	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
1560989	Spocd1	SPOC domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560989	Spocd1	SPOC domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1345460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1560989	Spocd1	SPOC domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345460	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1560989	Spocd1	SPOC domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1560989	Spocd1	SPOC domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1560991	Gtf2h5	general transcription factor IIH subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1560991	Gtf2h5	general transcription factor IIH subunit 5	gene	DOID:0111871	photosensitive trichothiodystrophy 3		ISO	RGD:1345695	D	RGD:7240710	20171011	OMIM			
1560991	Gtf2h5	general transcription factor IIH subunit 5	gene	DOID:0111871	photosensitive trichothiodystrophy 3		ISO	RGD:1345695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE | ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive	PMID:15220921|PMID:25620205|PMID:25741868|PMID:28492532|PMID:30359777
1560991	Gtf2h5	general transcription factor IIH subunit 5	gene	DOID:0111873	photosensitive trichothiodystrophy 1		ISO	RGD:1345695	D	RGD:7246919|PMID:22824526	20130626	RGD			
1560991	Gtf2h5	general transcription factor IIH subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560991	Gtf2h5	general transcription factor IIH subunit 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1560991	Gtf2h5	general transcription factor IIH subunit 5	gene	DOID:630	genetic disease		ISO	RGD:1345695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1560991	Gtf2h5	general transcription factor IIH subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1560999	Scrn1	secernin 1	gene	DOID:0060058	lymphoma		ISO	RGD:1348666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1560999	Scrn1	secernin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1348666	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1560999	Scrn1	secernin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1348666	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer	
1560999	Scrn1	secernin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1560999	Scrn1	secernin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1560999	Scrn1	secernin 1	gene	DOID:1115	sarcoma		ISO	RGD:1348666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1560999	Scrn1	secernin 1	gene	DOID:1324	lung cancer		ISO	RGD:1348666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1560999	Scrn1	secernin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1560999	Scrn1	secernin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1560999	Scrn1	secernin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1560999	Scrn1	secernin 1	gene	DOID:8398	osteoarthritis		ISO	RGD:1348666	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1560999	Scrn1	secernin 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1348666	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
1560999	Scrn1	secernin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561004	Ammecr1	AMMECR nuclear protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561004	Ammecr1	AMMECR nuclear protein 1	gene	DOID:0111859	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		ISO	RGD:1347096	D	RGD:7240710	20190315	OMIM			
1561004	Ammecr1	AMMECR nuclear protein 1	gene	DOID:0111859	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		ISO	RGD:1347096	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	PMID:25741868|PMID:27811305|PMID:28089922|PMID:28492532|PMID:29193635|PMID:34006472|PMID:35084080
1561004	Ammecr1	AMMECR nuclear protein 1	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1347096	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:25741868
1561004	Ammecr1	AMMECR nuclear protein 1	gene	DOID:1909	melanoma		ISO	RGD:1347096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561004	Ammecr1	AMMECR nuclear protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561004	Ammecr1	AMMECR nuclear protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561004	Ammecr1	AMMECR nuclear protein 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1347096	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1561009	Exd1	exonuclease 3'-5' domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605271	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561009	Exd1	exonuclease 3'-5' domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1605271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561009	Exd1	exonuclease 3'-5' domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561009	Exd1	exonuclease 3'-5' domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561012	Adamtsl4	ADAMTS-like 4	gene	DOID:0061276	Weill-Marchesani syndrome 4		ISO	RGD:1351069	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lens luxation	PMID:24802351|PMID:25741868|PMID:26653794|PMID:28492532
1561012	Adamtsl4	ADAMTS-like 4	gene	DOID:0111149	autosomal recessive isolated ectopia lentis 2		ISO	RGD:1351069	D	RGD:7240710	20130425	OMIM			
1561012	Adamtsl4	ADAMTS-like 4	gene	DOID:0111149	autosomal recessive isolated ectopia lentis 2		ISO	RGD:1351069	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ADAMTSL4-related condition | ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive	PMID:20564469|PMID:22338190|PMID:22736615|PMID:23426735|PMID:24802351|PMID:25741868|PMID:25975359|PMID:26653794|PMID:28394649|PMID:28492532|PMID:28642162|PMID:31848469|PMID:34818515|PMID:35042684|PMID:35378950|PMID:36089008|PMID:36208099|PMID:37107549|PMID:41243720
1561012	Adamtsl4	ADAMTS-like 4	gene	DOID:0111149	autosomal recessive isolated ectopia lentis 2		ISS	RGD:1557679	D	RGD:13592920	20230718	MouseDO		OMIM:225100	
1561012	Adamtsl4	ADAMTS-like 4	gene	DOID:0111648	ectopia lentis with ectopia of pupil		ISO	RGD:1351069	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561012	Adamtsl4	ADAMTS-like 4	gene	DOID:0111648	ectopia lentis with ectopia of pupil		ISO	RGD:1351069	D	RGD:7240710	20141015	OMIM			
1561012	Adamtsl4	ADAMTS-like 4	gene	DOID:0111648	ectopia lentis with ectopia of pupil		ISO	RGD:1351069	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ECTOPIA LENTIS WITH ECTOPIA OF PUPIL | ClinVar Annotator: match by term: Ectopia lentis et pupillae	PMID:20564469|PMID:22338190|PMID:22736615|PMID:23426735|PMID:24802351|PMID:25741868|PMID:25975359|PMID:26653794|PMID:28394649|PMID:28492532|PMID:28642162|PMID:31848469|PMID:34818515|PMID:35042684|PMID:35378950|PMID:36089008|PMID:36208099|PMID:37107549|PMID:41243720
1561012	Adamtsl4	ADAMTS-like 4	gene	DOID:110	lens disease		ISS	RGD:1557679	D	RGD:13592920	20180518	MouseDO			
1561012	Adamtsl4	ADAMTS-like 4	gene	DOID:11364	lens subluxation		ISO	RGD:1351069	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lens subluxation	PMID:24802351|PMID:25741868|PMID:26653794|PMID:28492532
1561012	Adamtsl4	ADAMTS-like 4	gene	DOID:1324	lung cancer		ISO	RGD:1351069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:32123317|PMID:34663891|PMID:36747048
1561012	Adamtsl4	ADAMTS-like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561012	Adamtsl4	ADAMTS-like 4	gene	DOID:630	genetic disease		ISO	RGD:1351069	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1561012	Adamtsl4	ADAMTS-like 4	gene	DOID:9000218	Craniosynostosis with Ectopia Lentis		ISO	RGD:1351069	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis	PMID:20564469|PMID:25741868|PMID:28492532|PMID:28642162|PMID:34818515|PMID:35378950|PMID:36089008
1561012	Adamtsl4	ADAMTS-like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561016	Themis2	thymocyte selection associated family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1353481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561016	Themis2	thymocyte selection associated family member 2	gene	DOID:1909	melanoma		ISO	RGD:1353481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561016	Themis2	thymocyte selection associated family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561016	Themis2	thymocyte selection associated family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561016	Themis2	thymocyte selection associated family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561016	Themis2	thymocyte selection associated family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561016	Themis2	thymocyte selection associated family member 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353481	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:19942713
1561019	Gprasp2	G protein-coupled receptor associated sorting protein 2	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1614131	D	RGD:13592920	20190502	MouseDO			
1561019	Gprasp2	G protein-coupled receptor associated sorting protein 2	gene	DOID:0111738	X-linked deafness 7		ISO	RGD:1346303	D	RGD:7240710	20200325	OMIM			
1561019	Gprasp2	G protein-coupled receptor associated sorting protein 2	gene	DOID:1059	intellectual disability		ISS	RGD:1614131	D	RGD:13592920	20190502	MouseDO			
1561022	Sumo3	small ubiquitin-like modifier 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346388	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561022	Sumo3	small ubiquitin-like modifier 3	gene	DOID:1909	melanoma		ISO	RGD:1346388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561025	Klhdc9	kelch domain containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561025	Klhdc9	kelch domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561025	Klhdc9	kelch domain containing 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561025	Klhdc9	kelch domain containing 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561025	Klhdc9	kelch domain containing 9	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1561025	Klhdc9	kelch domain containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561027	Pacrg	parkin coregulated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561027	Pacrg	parkin coregulated	gene	DOID:1909	melanoma		ISO	RGD:1352616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561027	Pacrg	parkin coregulated	gene	DOID:5041	esophageal cancer		ISO	RGD:1352616	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561027	Pacrg	parkin coregulated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561028	Pced1b	PC-esterase domain containing 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561028	Pced1b	PC-esterase domain containing 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561028	Pced1b	PC-esterase domain containing 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561030	Deptor	DEP domain containing MTOR-interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561030	Deptor	DEP domain containing MTOR-interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561030	Deptor	DEP domain containing MTOR-interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561030	Deptor	DEP domain containing MTOR-interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561030	Deptor	DEP domain containing MTOR-interacting protein	gene	DOID:3070	high grade glioma		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561030	Deptor	DEP domain containing MTOR-interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561030	Deptor	DEP domain containing MTOR-interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561030	Deptor	DEP domain containing MTOR-interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561030	Deptor	DEP domain containing MTOR-interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561034	C1h11orf42	similar to human chromosome 11 open reading frame 42	gene	DOID:1909	melanoma		ISO	RGD:1602976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561034	C1h11orf42	similar to human chromosome 11 open reading frame 42	gene	DOID:5041	esophageal cancer		ISO	RGD:1602976	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561038	Hecw1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561038	Hecw1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561038	Hecw1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561038	Hecw1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561038	Hecw1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561038	Hecw1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561038	Hecw1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352203	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561038	Hecw1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561038	Hecw1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561038	Hecw1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561038	Hecw1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561039	Spmip10	sperm microtubule inner protein 10	gene	DOID:4362	cervical cancer		ISO	RGD:1605198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561039	Spmip10	sperm microtubule inner protein 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561039	Spmip10	sperm microtubule inner protein 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561041	C1qtnf2	C1q and TNF related 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561041	C1qtnf2	C1q and TNF related 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561041	C1qtnf2	C1q and TNF related 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1331854	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2289739	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2289739	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27854218|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2289739	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29165578|PMID:29620724|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31618753|PMID:31680349|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:34182252|PMID:34906502|PMID:8253763|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22406018|PMID:22425360|PMID:23012439|PMID:23169490|PMID:23351400|PMID:23692786|PMID:23726790|PMID:24360807|PMID:24706459|PMID:25640679|PMID:25741868|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26633542|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31577543|PMID:31964843|PMID:32005694|PMID:32165824|PMID:32483926|PMID:32488064|PMID:33249554|PMID:33486889|PMID:34182252|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34906502|PMID:36307859|PMID:36319078|PMID:36468023|PMID:39394465|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22406018|PMID:22425360|PMID:23012439|PMID:23169490|PMID:23351400|PMID:23692786|PMID:23726790|PMID:24360807|PMID:24706459|PMID:25640679|PMID:25741868|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26633542|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31577543|PMID:31964843|PMID:32005694|PMID:32165824|PMID:32483926|PMID:32488064|PMID:33249554|PMID:33486889|PMID:34182252|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34906502|PMID:36307859|PMID:36319078|PMID:36468023|PMID:39394465|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22406018|PMID:22425360|PMID:23012439|PMID:23169490|PMID:23351400|PMID:23692786|PMID:23726790|PMID:24360807|PMID:24706459|PMID:25640679|PMID:25741868|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26633542|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31577543|PMID:31964843|PMID:32005694|PMID:32165824|PMID:32483926|PMID:32488064|PMID:33249554|PMID:33486889|PMID:33574475|PMID:34182252|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34906502|PMID:36307859|PMID:36319078|PMID:36468023|PMID:39394465|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050778	Meckel syndrome		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Meckel syndrome | ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:23169490|PMID:23351400|PMID:23692786|PMID:23726790|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26633542|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31577543|PMID:31964843|PMID:32165824|PMID:32483926|PMID:32488064|PMID:33486889|PMID:33574475|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34906502|PMID:36307859|PMID:36319078|PMID:36468023|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0050778	Meckel syndrome		ISS	RGD:1331854	D	RGD:13592920	20180518	MouseDO			
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0060260	ptosis		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0060320	inguinal hernia		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0060321	umbilical hernia		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0060340	ciliopathy		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ciliopathies | ClinVar Annotator: match by term: ciliopathy	PMID:19777577|PMID:21068128|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26729329|PMID:28492532|PMID:34758253
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0060668	anencephaly		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anencephaly	PMID:25741868
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0061105	retinitis pigmentosa 93		ISO	RGD:2289739	D	RGD:7240710	20220427	OMIM			
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0061105	retinitis pigmentosa 93		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 93 | ClinVar Annotator: match by term: Retinitis pigmentosa 93	PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21866095|PMID:22241855|PMID:23351400|PMID:23726790|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29146704|PMID:30267408|PMID:31964843|PMID:32165824|PMID:32483926|PMID:32488064|PMID:34645488|PMID:34758253|PMID:36307859|PMID:36319078|PMID:36468023|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16199547|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22246503|PMID:22425360|PMID:23012439|PMID:23351400|PMID:24033266|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:27081510|PMID:27082236|PMID:27959436|PMID:28125082|PMID:28492532|PMID:31618753|PMID:32488064|PMID:34194672|PMID:3631907
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22246503|PMID:22425360|PMID:23012439|PMID:23351400|PMID:24033266|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:27081510|PMID:27082236|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28518168|PMID:31618753|PMID:31964843|PMID:32461654|PMID:32488064|PMID:34194672|PMID:3631907|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22246503|PMID:22425360|PMID:23012439|PMID:23351400|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:27081510|PMID:27082236|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28518168|PMID:29146704|PMID:31618753|PMID:31964843|PMID:32461654|PMID:32488064|PMID:34194672|PMID:3631907|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome type 1	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:23351400|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26003401|PMID:26092869|PMID:26467025|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29146704|PMID:30091983|PMID:30267408|PMID:31577543|PMID:31964843|PMID:32165824|PMID:32488064|PMID:33486889|PMID:33574475|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34906502|PMID:36307859|PMID:36319078|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070120	Meckel syndrome 6		ISO	RGD:2289739	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070120	Meckel syndrome 6		ISO	RGD:2289739	D	RGD:7240710	20130731	OMIM			
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070120	Meckel syndrome 6		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CC2D2A-related disorder | ClinVar Annotator: match by term: Meckel syndrome 6 | ClinVar Annotator: match by term: Meckel syndrome type 6 | ClinVar Annotator: match by term: Meckel syndrome, type 6	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:23351400|PMID:23726790|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29039169|PMID:29146704|PMID:30055837|PMID:31411728|PMID:31577543|PMID:3196484|PMID:31964843|PMID:32165824|PMID:32483926|PMID:32488064|PMID:33574475|PMID:34234304|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:35140360|PMID:36307859|PMID:36319078|PMID:36468023|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070297	primary microcephaly		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:19777577|PMID:25741868|PMID:28492532|PMID:30091983
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:2289739	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:25741868
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 40	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22425360|PMID:22995991|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:28492532|PMID:29165578
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31618753|PMID:31680349|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:34182252|PMID:34194672|PMID:34906502|PMID:8253763|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22406018|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26633542|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:29987673|PMID:30055837|PMID:30091983|PMID:30202406|PMID:30267408|PMID:31130284|PMID:31577543|PMID:31618753|PMID:31680349|PMID:31738409|PMID:31964843|PMID:32165824|PMID:32461654|PMID:32488064|PMID:33486889|PMID:33502066|PMID:34182252|PMID:34194672|PMID:34645488|PMID:34821546|PMID:34906502|PMID:35858853|PMID:3631907|PMID:38259611|PMID:8253763|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22406018|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26633542|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:29987673|PMID:30055837|PMID:30091983|PMID:30202406|PMID:30267408|PMID:31130284|PMID:31577543|PMID:31618753|PMID:31680349|PMID:31738409|PMID:31964843|PMID:32005694|PMID:32165824|PMID:32461654|PMID:32488064|PMID:33486889|PMID:33502066|PMID:34182252|PMID:34194672|PMID:34645488|PMID:34821546|PMID:34906502|PMID:35858853|PMID:3631907|PMID:38259611|PMID:8253763|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18387594|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22406018|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26633542|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:29987673|PMID:30055837|PMID:30091983|PMID:30202406|PMID:30267408|PMID:30609409|PMID:31130284|PMID:31577543|PMID:31589614|PMID:31618753|PMID:31680349|PMID:31738409|PMID:3196484|PMID:31964843|PMID:32005694|PMID:32165824|PMID:32461654|PMID:32488064|PMID:33084218|PMID:33486889|PMID:33502066|PMID:34182252|PMID:34194672|PMID:34426522|PMID:34448047|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34853893|PMID:34906502|PMID:35858853|PMID:3631907|PMID:36788019|PMID:38259611|PMID:38987663|PMID:8253763|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18387594|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22406018|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26003401|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26633542|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:29987673|PMID:30055837|PMID:30091983|PMID:30202406|PMID:30267408|PMID:30609409|PMID:31130284|PMID:31577543|PMID:31589614|PMID:31618753|PMID:31680349|PMID:31738409|PMID:3196484|PMID:31964843|PMID:32005694|PMID:32165824|PMID:32461654|PMID:32488064|PMID:33084218|PMID:33486889|PMID:33502066|PMID:34182252|PMID:34194672|PMID:34426522|PMID:34448047|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34853893|PMID:34906502|PMID:35858853|PMID:3631907|PMID:36319078|PMID:36788019|PMID:38259611|PMID:38987663|PMID:8253763|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:23351400|PMID:23726790|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26003401|PMID:26092869|PMID:26467025|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29146704|PMID:30091983|PMID:30267408|PMID:31577543|PMID:31964843|PMID:32165824|PMID:32488064|PMID:33486889|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34906502|PMID:36307859|PMID:36319078|PMID:36468023|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:23351400|PMID:23726790|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26003401|PMID:26092869|PMID:26467025|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29146704|PMID:30091983|PMID:30267408|PMID:31577543|PMID:31964843|PMID:32165824|PMID:32488064|PMID:33486889|PMID:33574475|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34821546|PMID:34906502|PMID:36307859|PMID:36319078|PMID:36468023|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0110981	Joubert syndrome 10		ISO	RGD:2289739	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 10	PMID:25741868|PMID:26123494|PMID:34645488|PMID:37644014
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0111004	Joubert syndrome 9		ISO	RGD:2289739	D	RGD:11062645|PMID:22241855	20160926	RGD		DNA:mutations: :multiple	
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0111004	Joubert syndrome 9		ISO	RGD:2289739	D	RGD:11535976|PMID:19068953	20160927	RGD		DNA:splice-site mutation:intron:IVS19+1G>C (human)	
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0111004	Joubert syndrome 9		ISO	RGD:2289739	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0111004	Joubert syndrome 9		ISO	RGD:2289739	D	RGD:7240710	20130731	OMIM			
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0111004	Joubert syndrome 9		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 9 | ClinVar Annotator: match by term: Joubert syndrome 9 | ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic	PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:23351400|PMID:23692786|PMID:23726790|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27491411|PMID:27894351|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:29620724|PMID:30055837|PMID:30091983|PMID:31577543|PMID:31964843|PMID:32165824|PMID:32483926|PMID:32488064|PMID:33574475|PMID:34426522|PMID:34435324|PMID:34645488|PMID:34758253|PMID:34906502|PMID:36307859|PMID:36319078|PMID:36468023|PMID:38259611|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0111004	Joubert syndrome 9	no_association	ISO	RGD:2289739	D	RGD:11062645|PMID:22241855	20160926	RGD		DNA:mutations: :multiple	
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0111682	cystic renal dysplasia		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cystic renal dysplasia	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:0112072	nuclear type mitochondrial complex I deficiency 20		ISO	RGD:2289739	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20	PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:28492532|PMID:29146704
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:10126	keratoconus		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Keratoconus	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1059	intellectual disability		ISO	RGD:2289739	D	RGD:11535973|PMID:22023432	20160926	RGD		DNA:SNPs, haplotype: :rs7661102, rs10025837, rs13116304 (human)	
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1059	intellectual disability		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:19777577|PMID:25741868|PMID:28492532|PMID:30091983
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1059	intellectual disability	no_association	ISO	RGD:2289739	D	RGD:11535973|PMID:22023432	20160926	RGD		DNA:SNPs, haplotype: :rs7664843, rs1861044 (human)	
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:10629	microphthalmia		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral microphthalmos	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:10892	hypospadias		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:10907	microcephaly		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16199547|PMID:19777577|PMID:25741868|PMID:27491411|PMID:28492532|PMID:31577543|PMID:34426522|PMID:34435324
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1148	polydactyly		ISO	RGD:2289739	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:19466712|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:11782	astigmatism		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:12215	oligohydramnios		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:22241855|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:32488064
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1324	lung cancer		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1657	ventricular septal defect		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:16199547|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:22241855|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:32488064
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1826	epilepsy		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:16199547|PMID:18950740|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532|PMID:36319078
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:2975	cystic kidney disease		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:16199547|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:22241855|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:32488064
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:3070	high grade glioma		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25741868
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:18950740|PMID:19777577|PMID:22241855|PMID:25741868|PMID:26092869|PMID:27081510|PMID:27082236|PMID:28492532|PMID:29146704|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:4621	holoprosencephaly		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:5723	optic atrophy		ISO	RGD:2289739	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:6039	uveal melanoma		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:630	genetic disease		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:22241855|PMID:25741868|PMID:26092869|PMID:26729329|PMID:28125082|PMID:28492532|PMID:29146704|PMID:32165824|PMID:32483926|PMID:32488064|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:674	cleft palate		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:8488	polyhydramnios		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532|PMID:34906502
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:8501	fundus dystrophy		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:19466712|PMID:19777577|PMID:21493627|PMID:22241855|PMID:25741868|PMID:26092869|PMID:26862157|PMID:27894351|PMID:28492532|PMID:29620724|PMID:30202406|PMID:31130284|PMID:3196484|PMID:31964843|PMID:32165824|PMID:33486889|PMID:34645488|PMID:34853893|PMID:36319078|PMID:37853102|PMID:39071699|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9000495	Tremor		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:18950740|PMID:25741868|PMID:26092869|PMID:28492532|PMID:36319078
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9000639	COACH Syndrome 1		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COACH syndrome 1	PMID:18414213|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26729329|PMID:27081510|PMID:27082236|PMID:28492532|PMID:29146704|PMID:34758253
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9000983	Encephalocele		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Encephalocele | ClinVar Annotator: match by term: Occipital encephalocele	PMID:16199547|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:22241855|PMID:25741868|PMID:26092869|PMID:26862157|PMID:28125082|PMID:28492532|PMID:31680349|PMID:32488064
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9001031	Retrognathia		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9003133	Hypertelorism		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:16199547|PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Miscarriage	PMID:19777577|PMID:21866095|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9003507	Premature Birth		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:2289739	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:19574260|PMID:19777577|PMID:25741868|PMID:28492532|PMID:29146704
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9004866	Ataxia		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:19777577|PMID:25741868|PMID:28492532|PMID:30091983
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532|PMID:34906502
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532|PMID:34906502
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9006277	COACH Syndrome 2		ISO	RGD:2289739	D	RGD:7240710	20201223	OMIM			
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9006277	COACH Syndrome 2		ISO	RGD:2289739	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COACH syndrome 2	PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21866095|PMID:22241855|PMID:23351400|PMID:23726790|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29146704|PMID:31964843|PMID:32165824|PMID:32483926|PMID:32488064|PMID:34645488|PMID:34758253|PMID:36307859|PMID:36319078|PMID:36468023|PMID:9536098
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9007479	Habitual Abortions		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	PMID:19777577|PMID:21866095|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9007661	Dwarfism		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9008972	Hyperammonemia		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:2289739	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:936	brain disease		ISO	RGD:2289739	D	RGD:8554872	20230502	ClinVar		ClinVar Annotator: match by term: Encephalopathy | ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9409	diabetes insipidus		ISO	RGD:2289739	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:16199547|PMID:19777577|PMID:25741868|PMID:28492532
1561042	Cc2d2a	coiled-coil and C2 domain containing 2A	gene	DOID:9650	pathologic nystagmus		ISO	RGD:2289739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:19777577|PMID:28492532
1561043	Tut1	terminal uridylyl transferase 1, U6 snRNA-specific	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561043	Tut1	terminal uridylyl transferase 1, U6 snRNA-specific	gene	DOID:1324	lung cancer		ISO	RGD:1345565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561043	Tut1	terminal uridylyl transferase 1, U6 snRNA-specific	gene	DOID:4362	cervical cancer		ISO	RGD:1345565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561043	Tut1	terminal uridylyl transferase 1, U6 snRNA-specific	gene	DOID:5041	esophageal cancer		ISO	RGD:1345565	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561043	Tut1	terminal uridylyl transferase 1, U6 snRNA-specific	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561043	Tut1	terminal uridylyl transferase 1, U6 snRNA-specific	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561043	Tut1	terminal uridylyl transferase 1, U6 snRNA-specific	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561044	Cby2	chibby family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561045	Fance	FA complementation group E	gene	DOID:0111084	Fanconi anemia complementation group E		ISO	RGD:1354425	D	RGD:7240710	20130425	OMIM			
1561045	Fance	FA complementation group E	gene	DOID:0111084	Fanconi anemia complementation group E		ISO	RGD:1354425	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: FANCE-related condition | ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP E | ClinVar Annotator: match by term: Fanconi anemia complementation group E | ClinVar Annotator: match by term: Fanconi anemia, complementation group E	PMID:10205272|PMID:11001585|PMID:14695169|PMID:16199547|PMID:17308347|PMID:17576681|PMID:17924555|PMID:21279724|PMID:22778927|PMID:25741868|PMID:26689913|PMID:26822949|PMID:27913932|PMID:28492532|PMID:29625052|PMID:31102422|PMID:31586946|PMID:31839986|PMID:31980526|PMID:32487094|PMID:32947577|PMID:33084842|PMID:33224012|PMID:33270637|PMID:35295078|PMID:36398383|PMID:36463940|PMID:36622392|PMID:9536098
1561045	Fance	FA complementation group E	gene	DOID:10907	microcephaly		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1561045	Fance	FA complementation group E	gene	DOID:1115	sarcoma		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561045	Fance	FA complementation group E	gene	DOID:1324	lung cancer		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561045	Fance	FA complementation group E	gene	DOID:13636	Fanconi anemia		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:11001585|PMID:17924555|PMID:21279724|PMID:25741868|PMID:26822949|PMID:28492532|PMID:31586946|PMID:31980526
1561045	Fance	FA complementation group E	gene	DOID:1520	colon carcinoma		ISO	RGD:1354425	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:25058500|PMID:25741868|PMID:27165003|PMID:28492532|PMID:34687117
1561045	Fance	FA complementation group E	gene	DOID:1612	breast cancer		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868|PMID:28492532|PMID:33326660
1561045	Fance	FA complementation group E	gene	DOID:2361	macrocytic anemia		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocytic anemia	PMID:25741868|PMID:28492532
1561045	Fance	FA complementation group E	gene	DOID:2394	ovarian cancer		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1561045	Fance	FA complementation group E	gene	DOID:4362	cervical cancer		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561045	Fance	FA complementation group E	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas	PMID:11001585|PMID:17924555|PMID:21279724|PMID:25741868|PMID:26822949|PMID:28492532|PMID:31586946|PMID:31980526
1561045	Fance	FA complementation group E	gene	DOID:5041	esophageal cancer		ISO	RGD:1354425	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561045	Fance	FA complementation group E	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1614308	D	RGD:11344915|PMID:26939056	20160708	RGD			
1561045	Fance	FA complementation group E	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1354425	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:25741868|PMID:33326660
1561045	Fance	FA complementation group E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561045	Fance	FA complementation group E	gene	DOID:630	genetic disease		ISO	RGD:1354425	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1561045	Fance	FA complementation group E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561045	Fance	FA complementation group E	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1561045	Fance	FA complementation group E	gene	DOID:9001425	Triphalangeal Thumb		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Triphalangeal thumb	PMID:25741868|PMID:28492532
1561045	Fance	FA complementation group E	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
1561045	Fance	FA complementation group E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561045	Fance	FA complementation group E	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561046	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561046	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:0050776	non-syndromic X-linked intellectual disability		ISO	RGD:1350342	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability	PMID:25741868
1561046	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561046	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:1115	sarcoma		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561046	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1561046	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:1909	melanoma		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561046	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350342	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561046	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561046	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1350342	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1561046	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:37841849
1561046	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1561046	Smarca1	SNF2 related chromatin remodeling ATPase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561048	Itln1	intelectin 1	gene	DOID:0051064	left ventricular failure		ISO	RGD:1346201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:23555749
1561048	Itln1	intelectin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561048	Itln1	intelectin 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1346201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15777968
1561048	Itln1	intelectin 1	gene	DOID:9006474	Arterial Occlusive Diseases		ISO	RGD:1346201	D	RGD:401793723|PMID:22721676	20230831	RGD		mRNA:decreased expression:leg blood vessel (human)	
1561048	Itln1	intelectin 1	gene	DOID:9006778	Carotid Atherosclerosis	severity	ISO	RGD:1346201	D	RGD:329845846|PMID:24956535	20230531	RGD		protein:decreased expression:blood serum (human)	
1561048	Itln1	intelectin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561048	Itln1	intelectin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561048	Itln1	intelectin 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1346201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23555749
1561053	Cldn12	claudin 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561053	Cldn12	claudin 12	gene	DOID:3275	thymoma		ISO	RGD:1314174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561053	Cldn12	claudin 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:0080600	COVID-19		ISO	RGD:1603523	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1603523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:1324	lung cancer		ISO	RGD:1603523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:1909	melanoma		ISO	RGD:1603523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:3275	thymoma		ISO	RGD:1603523	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1603523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603523	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561056	B4galnt3	beta-1,4-N-acetyl-galactosaminyl transferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1346381	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:14681825|PMID:15708351|PMID:19578027|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25525159|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29555955|PMID:30004997|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31082679|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32411380|PMID:32581362|PMID:32865075|PMID:33322828|PMID:33576794|PMID:33749171|PMID:34315337|PMID:34426522|PMID:34758253|PMID:34906470|PMID:35119454|PMID:35456422|PMID:36460718|PMID:36819107|PMID:36909829
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1346381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:30718709
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:0110368	retinitis pigmentosa 26		ISO	RGD:1346381	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:0110368	retinitis pigmentosa 26		ISO	RGD:1346381	D	RGD:7240710	20130425	OMIM			
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:0110368	retinitis pigmentosa 26		ISO	RGD:1346381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CERKL-related disorder | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 26 | ClinVar Annotator: match by term: Retinitis Pigmentosa 26 | ClinVar Annotator: match by term: Retinitis pigmentosa 26 | ClinVar Annotator: match by term: Retinitis pigmentosa type 26	PMID:14681825|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19501188|PMID:19667359|PMID:20554613|PMID:23591405|PMID:23661369|PMID:24043777|PMID:24498393|PMID:24547929|PMID:24735978|PMID:25097241|PMID:25342276|PMID:25356976|PMID:25741868|PMID:26103963|PMID:26355662|PMID:26766544|PMID:27208204|PMID:27813578|PMID:27898983|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28838317|PMID:29068140|PMID:30029497|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31456290|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32340307|PMID:32483926|PMID:32531858|PMID:33090715|PMID:33322828|PMID:33576794|PMID:33749171|PMID:33921607|PMID:34315337|PMID:34662339|PMID:34906470|PMID:35119454|PMID:35318874|PMID:35836572|PMID:36196406|PMID:36729443|PMID:36819107|PMID:36832217|PMID:36909829|PMID:37322672|PMID:37331655|PMID:38540785|PMID:9536098
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:0110368	retinitis pigmentosa 26		ISS	RGD:1619852	D	RGD:13592920	20230718	MouseDO		OMIM:608380	
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1346381	D	RGD:1600829|PMID:14681825	20070328	RGD		DNA:mutation:exon	
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1346381	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19501188|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24547929|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25342276|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26355662|PMID:27208204|PMID:28041643|PMID:28157192|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:29074561|PMID:29555955|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31082679|PMID:31456290|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32411380|PMID:32531858|PMID:32581362|PMID:32865075|PMID:33322828|PMID:33576794|PMID:33749171|PMID:33921607|PMID:34315337|PMID:34426522|PMID:34758253|PMID:34906470|PMID:35119454|PMID:35318874|PMID:35456422|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1346381	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19501188|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24547929|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25342276|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26355662|PMID:27208204|PMID:28041643|PMID:28157192|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:29555955|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31054281|PMID:31082679|PMID:31456290|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32411380|PMID:32531858|PMID:32581362|PMID:32865075|PMID:33322828|PMID:33576794|PMID:33749171|PMID:33921607|PMID:34315337|PMID:34426522|PMID:34758253|PMID:34906470|PMID:35119454|PMID:35318874|PMID:35456422|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1346381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:14681825|PMID:17576681|PMID:18978954|PMID:19501188|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24735978|PMID:25342276|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28838317|PMID:29068140|PMID:32340307|PMID:32531858|PMID:33322828|PMID:34315337|PMID:36819107|PMID:37331655|PMID:9536098
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:10584	retinitis pigmentosa	susceptibility	ISO	RGD:1346381	D	RGD:9068941	20200609	RGD		DNA:mutation:exon	PMID:14681825|REF_RGD_ID:1600829
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:1324	lung cancer		ISO	RGD:1346381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:4448	macular degeneration		ISO	RGD:1346381	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:25741868
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1346381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:5679	retinal disease		ISO	RGD:1346381	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:14681825|PMID:23591405|PMID:24043777|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29074561|PMID:31054281|PMID:31964843|PMID:32531858
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:630	genetic disease		ISO	RGD:1346381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1561057	Cerkl	CERK like autophagy regulator	gene	DOID:8501	fundus dystrophy		ISO	RGD:1346381	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:14681825|PMID:16199547|PMID:18978954|PMID:19501188|PMID:23591405|PMID:24043777|PMID:24735978|PMID:25741868|PMID:27208204|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28838317|PMID:29068140|PMID:31106028|PMID:31816670|PMID:31964843|PMID:32340307|PMID:32865075|PMID:33322828|PMID:34315337|PMID:34662339|PMID:37331655
1561059	Mettl8	methyltransferase 8, tRNA N3-cytidine	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561059	Mettl8	methyltransferase 8, tRNA N3-cytidine	gene	DOID:1909	melanoma		ISO	RGD:1605633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561059	Mettl8	methyltransferase 8, tRNA N3-cytidine	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561059	Mettl8	methyltransferase 8, tRNA N3-cytidine	gene	DOID:2394	ovarian cancer		ISO	RGD:1605633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1561059	Mettl8	methyltransferase 8, tRNA N3-cytidine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561059	Mettl8	methyltransferase 8, tRNA N3-cytidine	gene	DOID:6039	uveal melanoma		ISO	RGD:1605633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1561059	Mettl8	methyltransferase 8, tRNA N3-cytidine	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561059	Mettl8	methyltransferase 8, tRNA N3-cytidine	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561059	Mettl8	methyltransferase 8, tRNA N3-cytidine	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561059	Mettl8	methyltransferase 8, tRNA N3-cytidine	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561059	Mettl8	methyltransferase 8, tRNA N3-cytidine	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1345273	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:0112034	non-syndromic X-linked intellectual disability 9		ISO	RGD:1345273	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:0112034	non-syndromic X-linked intellectual disability 9		ISO	RGD:1345273	D	RGD:7240710	20130425	OMIM			
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:0112034	non-syndromic X-linked intellectual disability 9		ISO	RGD:1345273	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FTSJ1-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9 | ClinVar Annotator: match by term: Mental retardation 9, X-linked	PMID:25741868|PMID:28492532
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:0112034	non-syndromic X-linked intellectual disability 9		ISS	RGD:1557881	D	RGD:13592920	20230718	MouseDO		OMIM:309549	
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1345273	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1345273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1345273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1345273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1345273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1345273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1561061	Ftsj1	FtsJ RNA 2'-O-methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561062	Fam117a	family with sequence similarity 117, member A	gene	DOID:1909	melanoma		ISO	RGD:1604587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561062	Fam117a	family with sequence similarity 117, member A	gene	DOID:3275	thymoma		ISO	RGD:1604587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561062	Fam117a	family with sequence similarity 117, member A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561062	Fam117a	family with sequence similarity 117, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561062	Fam117a	family with sequence similarity 117, member A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561062	Fam117a	family with sequence similarity 117, member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561062	Fam117a	family with sequence similarity 117, member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561064	Myoz1	myozenin 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1351397	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
1561064	Myoz1	myozenin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561065	Phf8	PHD finger protein 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561065	Phf8	PHD finger protein 8	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
1561065	Phf8	PHD finger protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561065	Phf8	PHD finger protein 8	gene	DOID:0060260	ptosis		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
1561065	Phf8	PHD finger protein 8	gene	DOID:0060812	syndromic X-linked intellectual disability Siderius type		ISO	RGD:1347460	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561065	Phf8	PHD finger protein 8	gene	DOID:0060812	syndromic X-linked intellectual disability Siderius type		ISO	RGD:1347460	D	RGD:7240710	20130221	OMIM			
1561065	Phf8	PHD finger protein 8	gene	DOID:0060812	syndromic X-linked intellectual disability Siderius type		ISO	RGD:1347460	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SIDERIUS TYPE | ClinVar Annotator: match by term: PHF8-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type	PMID:25741868|PMID:28492532|PMID:33258288
1561065	Phf8	PHD finger protein 8	gene	DOID:0060812	syndromic X-linked intellectual disability Siderius type		ISS	RGD:1617982	D	RGD:13592920	20230718	MouseDO		OMIM:300263	
1561065	Phf8	PHD finger protein 8	gene	DOID:10283	prostate cancer		ISO	RGD:1347460	D	RGD:9586733|PMID:22120715	20141003	RGD		mRNA:increased expression:prostate (human)	
1561065	Phf8	PHD finger protein 8	gene	DOID:10534	stomach cancer		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561065	Phf8	PHD finger protein 8	gene	DOID:1059	intellectual disability		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25167861|PMID:25741868
1561065	Phf8	PHD finger protein 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561065	Phf8	PHD finger protein 8	gene	DOID:1115	sarcoma		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561065	Phf8	PHD finger protein 8	gene	DOID:12849	autistic disorder		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1561065	Phf8	PHD finger protein 8	gene	DOID:4362	cervical cancer		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561065	Phf8	PHD finger protein 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561065	Phf8	PHD finger protein 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1347460	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561065	Phf8	PHD finger protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561065	Phf8	PHD finger protein 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561065	Phf8	PHD finger protein 8	gene	DOID:630	genetic disease		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1561065	Phf8	PHD finger protein 8	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1561065	Phf8	PHD finger protein 8	gene	DOID:9001510	Funnel Chest		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1561065	Phf8	PHD finger protein 8	gene	DOID:9001581	Constipation		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1561065	Phf8	PHD finger protein 8	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1561065	Phf8	PHD finger protein 8	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1561065	Phf8	PHD finger protein 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	
1561065	Phf8	PHD finger protein 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561065	Phf8	PHD finger protein 8	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
1561065	Phf8	PHD finger protein 8	gene	DOID:9007661	Dwarfism		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1561065	Phf8	PHD finger protein 8	gene	DOID:9007845	Encopresis		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encopresis	
1561065	Phf8	PHD finger protein 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1561065	Phf8	PHD finger protein 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561065	Phf8	PHD finger protein 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561065	Phf8	PHD finger protein 8	gene	DOID:9834	hyperopia		ISO	RGD:1347460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1561067	Rbpms	RNA binding protein, mRNA processing factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561067	Rbpms	RNA binding protein, mRNA processing factor	gene	DOID:10534	stomach cancer		ISO	RGD:1342648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561067	Rbpms	RNA binding protein, mRNA processing factor	gene	DOID:1115	sarcoma		ISO	RGD:1342648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561067	Rbpms	RNA binding protein, mRNA processing factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561067	Rbpms	RNA binding protein, mRNA processing factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561067	Rbpms	RNA binding protein, mRNA processing factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1342648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1561067	Rbpms	RNA binding protein, mRNA processing factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561067	Rbpms	RNA binding protein, mRNA processing factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561068	Mcmdc2	minichromosome maintenance domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561068	Mcmdc2	minichromosome maintenance domain containing 2	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1605856	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868|PMID:41820312
1561068	Mcmdc2	minichromosome maintenance domain containing 2	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1605856	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
1561068	Mcmdc2	minichromosome maintenance domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561068	Mcmdc2	minichromosome maintenance domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1605856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561068	Mcmdc2	minichromosome maintenance domain containing 2	gene	DOID:12336	male infertility		ISO	RGD:1605856	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868|PMID:41820312
1561068	Mcmdc2	minichromosome maintenance domain containing 2	gene	DOID:14227	azoospermia		ISO	RGD:1605856	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Azoospermia	PMID:25741868|PMID:41820312
1561068	Mcmdc2	minichromosome maintenance domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561068	Mcmdc2	minichromosome maintenance domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561068	Mcmdc2	minichromosome maintenance domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561068	Mcmdc2	minichromosome maintenance domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561069	Fbxo31	F-box protein 31	gene	DOID:0050669	spastic cerebral palsy		ISO	RGD:1351564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic cerebral palsy	PMID:25741868|PMID:32989326|PMID:33675180
1561069	Fbxo31	F-box protein 31	gene	DOID:0081209	autosomal recessive intellectual developmental disorder 45		ISO	RGD:1351564	D	RGD:7240710	20171011	OMIM			
1561069	Fbxo31	F-box protein 31	gene	DOID:0081209	autosomal recessive intellectual developmental disorder 45		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FBXO31-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 45	PMID:24623382|PMID:25741868|PMID:32989326|PMID:33675180|PMID:35019165
1561069	Fbxo31	F-box protein 31	gene	DOID:1115	sarcoma		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561069	Fbxo31	F-box protein 31	gene	DOID:1324	lung cancer		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561069	Fbxo31	F-box protein 31	gene	DOID:1909	melanoma		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561069	Fbxo31	F-box protein 31	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561069	Fbxo31	F-box protein 31	gene	DOID:3275	thymoma		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561069	Fbxo31	F-box protein 31	gene	DOID:5041	esophageal cancer		ISO	RGD:1351564	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561069	Fbxo31	F-box protein 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561069	Fbxo31	F-box protein 31	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561069	Fbxo31	F-box protein 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561069	Fbxo31	F-box protein 31	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:10534	stomach cancer		ISO	RGD:1603564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:1115	sarcoma		ISO	RGD:1603564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:3275	thymoma		ISO	RGD:1603564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:4362	cervical cancer		ISO	RGD:1603564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1603564	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561071	Ankar	ankyrin and armadillo repeat containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561076	Spdye4	speedy/RINGO cell cycle regulator family member E4	gene	DOID:5041	esophageal cancer		ISO	RGD:2303837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561078	Tas2r135	taste receptor, type 2, member 135	gene	DOID:1909	melanoma		ISO	RGD:1347652	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21499247
1561080	Wipf2	WAS/WASL interacting protein family, member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561080	Wipf2	WAS/WASL interacting protein family, member 2	gene	DOID:1115	sarcoma		ISO	RGD:1603178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561080	Wipf2	WAS/WASL interacting protein family, member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561080	Wipf2	WAS/WASL interacting protein family, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561088	Orc5	origin recognition complex, subunit 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561088	Orc5	origin recognition complex, subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561088	Orc5	origin recognition complex, subunit 5	gene	DOID:1909	melanoma		ISO	RGD:1320971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561088	Orc5	origin recognition complex, subunit 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561088	Orc5	origin recognition complex, subunit 5	gene	DOID:4362	cervical cancer		ISO	RGD:1320971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561088	Orc5	origin recognition complex, subunit 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561088	Orc5	origin recognition complex, subunit 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1320971	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561088	Orc5	origin recognition complex, subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561088	Orc5	origin recognition complex, subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320971	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561088	Orc5	origin recognition complex, subunit 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561088	Orc5	origin recognition complex, subunit 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:0050425	restless legs syndrome		IEP		D	RGD:401976457|PMID:36053904	20240226	RGD		protein:decreased expression:striatum (rat)	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:0050425	restless legs syndrome		ISO	RGD:1348083	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18660810
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:0050425	restless legs syndrome	treatment	IEP		D	RGD:401976430|PMID:37633178	20240222	RGD			
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:10283	prostate cancer		ISO	RGD:1348083	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:10283	prostate cancer		ISO	RGD:1348083	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:10534	stomach cancer		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:10763	hypertension	treatment	ISO	RGD:1348083	D	RGD:11085524|PMID:26425837	20240222	RGD		DNA:SNP:enhancer: (rs10739150) (human)	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1348083	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19546859
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:1115	sarcoma		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:1324	lung cancer		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:19478061|PMID:31041642|PMID:31805999|PMID:35101336
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:1909	melanoma		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:3275	thymoma		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:3393	coronary artery disease		ISO	RGD:1348083	D	RGD:401976461|PMID:22216278	20240226	RGD		DNA:SNP:intron: (rs10115782) (human)	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:4362	cervical cancer		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:5041	esophageal cancer		ISO	RGD:1348083	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348083	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1348083	D	RGD:401976433|PMID:35848503	20240222	RGD		mRNA:decreased expression:blood, pulmonary artery (human)	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:9003858	Environmental Illness	susceptibility	ISO	RGD:1348083	D	RGD:401850598|PMID:27281273	20231024	RGD			
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced		IEP		D	RGD:401976433|PMID:35848503	20240222	RGD		mRNA, protein:decreased expression:pulmonary artery (rat)	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:9006738	Hypertension Resistant to Conventional Therapy	susceptibility	ISO	RGD:1348083	D	RGD:401976431|PMID:30237584	20240222	RGD		associated with coronary artery disease;DNA:SNP:intron: (rs324498) (human)	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1348083	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:21278247
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1348083	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:9351	diabetes mellitus	disease_progression	ISO	RGD:1348083	D	RGD:401976426|PMID:21767287	20240222	RGD		DNA:SNP:intron: (rs17584499) (human)	
1561090	Ptprd	protein tyrosine phosphatase, receptor type, D	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1348083	D	RGD:401850598|PMID:27281273	20231024	RGD		associated with Environmental Illness; DNA:SNP:intron: (rs16927668) (Human)	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:0051101	retinitis pigmentosa 108		ISO	RGD:1352515	D	RGD:7240710	20260805	OMIM			
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:0051101	retinitis pigmentosa 108		ISO	RGD:1352515	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 108	PMID:25741868|PMID:41742423
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:10534	stomach cancer		ISO	RGD:1352515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:1621610	D	RGD:10412062|PMID:18805803	20151113	RGD		DNA, mRNA:nonsense mutation, decreased expression:retina	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:1115	sarcoma		ISO	RGD:1352515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:1909	melanoma		ISO	RGD:1352515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:3275	thymoma		ISO	RGD:1352515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352515	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1352515	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:8466	retinal degeneration		ISS	RGD:1621610	D	RGD:13592920	20240314	MouseDO			
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352515	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1561092	Saxo6	stabilizer of axonemal microtubules 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561099	Zc3hc1	zinc finger, C3HC-type containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561099	Zc3hc1	zinc finger, C3HC-type containing 1	gene	DOID:1909	melanoma		ISO	RGD:1347342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561099	Zc3hc1	zinc finger, C3HC-type containing 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1347342	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990
1561099	Zc3hc1	zinc finger, C3HC-type containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561099	Zc3hc1	zinc finger, C3HC-type containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561099	Zc3hc1	zinc finger, C3HC-type containing 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:1347342	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
1561099	Zc3hc1	zinc finger, C3HC-type containing 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1347342	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
1561100	Popdc1	popeye domain cAMP effector 1	gene	DOID:0110290	autosomal recessive limb-girdle muscular dystrophy type 2X		ISO	RGD:1344210	D	RGD:7240710	20190315	OMIM			
1561100	Popdc1	popeye domain cAMP effector 1	gene	DOID:0110290	autosomal recessive limb-girdle muscular dystrophy type 2X		ISO	RGD:1344210	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2X | ClinVar Annotator: match by term: BVES-related condition | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2X	PMID:25741868|PMID:28492532|PMID:31119192
1561100	Popdc1	popeye domain cAMP effector 1	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1344210	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:25741868|PMID:31119192
1561100	Popdc1	popeye domain cAMP effector 1	gene	DOID:1909	melanoma		ISO	RGD:1344210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561100	Popdc1	popeye domain cAMP effector 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561100	Popdc1	popeye domain cAMP effector 1	gene	DOID:630	genetic disease		ISO	RGD:1344210	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1561104	Cd209d	CD209d molecule	gene	DOID:0050598	extrapulmonary tuberculosis	susceptibility	ISO	RGD:1320216	D	RGD:39938981|PMID:24874302	20201016	RGD		DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human)	
1561104	Cd209d	CD209d molecule	gene	DOID:0050827	rheumatic heart disease		ISO	RGD:1320216	D	RGD:41410815|PMID:30261069	20210216	RGD		protein:increased expression:left cardiac atrium, dendritic cell (human)	
1561104	Cd209d	CD209d molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561104	Cd209d	CD209d molecule	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:1320216	D	RGD:9068941	20220825	RGD			PMID:20864747|REF_RGD_ID:5131184
1561104	Cd209d	CD209d molecule	gene	DOID:0080600	COVID-19		ISO	RGD:1320216	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:35255492
1561104	Cd209d	CD209d molecule	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:1320216	D	RGD:9068941	20200609	RGD			PMID:20050784|REF_RGD_ID:5131185
1561104	Cd209d	CD209d molecule	gene	DOID:12205	dengue disease		ISO	RGD:1320216	D	RGD:11554173	20171226	CTD		CTD Direct Evidence: marker/mechanism	PMID:15838506
1561104	Cd209d	CD209d molecule	gene	DOID:12205	dengue disease		ISO	RGD:1320216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dengue virus, susceptibility to	PMID:25741868
1561104	Cd209d	CD209d molecule	gene	DOID:12205	dengue disease	severity	ISO	RGD:1320216|RGD:1558208	D	RGD:39939064|PMID:16274635	20201026	RGD		DNA:SNP:promoter: -336G>A (human)	
1561104	Cd209d	CD209d molecule	gene	DOID:12205	dengue disease	susceptibility	ISO	RGD:1320216	D	RGD:7240710	20260722	OMIM			
1561104	Cd209d	CD209d molecule	gene	DOID:12206	dengue hemorrhagic fever	severity	ISO	RGD:1320216	D	RGD:39938993|PMID:15838506	20210215	RGD		DNA:SNPs:introns, promoter:multiple (human)	
1561104	Cd209d	CD209d molecule	gene	DOID:12206	dengue hemorrhagic fever	susceptibility	ISO	RGD:1320216	D	RGD:41410809|PMID:21245921	20210215	RGD		DNA:SNP:promoter: -336 A>G (rs4804803)  (human)	
1561104	Cd209d	CD209d molecule	gene	DOID:1324	lung cancer		ISO	RGD:1320216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561104	Cd209d	CD209d molecule	gene	DOID:13564	aspergillosis		ISO	RGD:1320216	D	RGD:5131183|PMID:21381282	20110422	RGD			
1561104	Cd209d	CD209d molecule	gene	DOID:1883	hepatitis C		ISO	RGD:1320216	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:27385120
1561104	Cd209d	CD209d molecule	gene	DOID:1909	melanoma		ISO	RGD:1320216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561104	Cd209d	CD209d molecule	gene	DOID:2841	asthma		ISO	RGD:1320216	D	RGD:9068941	20200609	RGD			PMID:21471959|REF_RGD_ID:5131188
1561104	Cd209d	CD209d molecule	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1320216	D	RGD:11554173	20171226	CTD		CTD Direct Evidence: marker/mechanism	PMID:16379498
1561104	Cd209d	CD209d molecule	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1320216	D	RGD:39938981|PMID:24874302	20201016	RGD		DNA:SNPs:promoter:-139G>A, -336A>G, -871A>G (rs2287886,rs4804803,rs735239) (human)	
1561104	Cd209d	CD209d molecule	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1320216|RGD:1558208	D	RGD:39939062|PMID:19126442	20201026	RGD		associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human)	
1561104	Cd209d	CD209d molecule	gene	DOID:399	tuberculosis		ISO	RGD:1320216	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to	PMID:25741868
1561104	Cd209d	CD209d molecule	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:1320216	D	RGD:7240710	20260722	OMIM			
1561104	Cd209d	CD209d molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561104	Cd209d	CD209d molecule	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1320216	D	RGD:11554173	20171226	CTD		CTD Direct Evidence: marker/mechanism	PMID:15564514
1561104	Cd209d	CD209d molecule	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1320216	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	
1561104	Cd209d	CD209d molecule	gene	DOID:526	human immunodeficiency virus infectious disease	susceptibility	ISO	RGD:1320216	D	RGD:7240710	20260722	OMIM			
1561104	Cd209d	CD209d molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561104	Cd209d	CD209d molecule	gene	DOID:635	acquired immunodeficiency syndrome	disease_progression	ISO	RGD:1320216|RGD:1558208	D	RGD:39939010|PMID:17530998	20201025	RGD		associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human)	
1561104	Cd209d	CD209d molecule	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1320216	D	RGD:9068941	20200609	RGD			PMID:17107989|REF_RGD_ID:5131187
1561104	Cd209d	CD209d molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561104	Cd209d	CD209d molecule	gene	DOID:9001488	Human Influenza	susceptibility	ISO	RGD:1320216	D	RGD:9068941	20200609	RGD			PMID:21191006|REF_RGD_ID:5131189
1561104	Cd209d	CD209d molecule	gene	DOID:9002670	HTLV-I Infections	susceptibility	ISO	RGD:1320216	D	RGD:41410814|PMID:19264667	20210215	RGD		DNA:SNPs,haplotypes:promoter:multiple (human)	
1561104	Cd209d	CD209d molecule	gene	DOID:9003219	Invasive Pulmonary Aspergillosis	susceptibility	ISO	RGD:1320216	D	RGD:39938996|PMID:22384201	20201019	RGD		DNA:SNPs:3'utr,intron:multiple	
1561104	Cd209d	CD209d molecule	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1320216	D	RGD:39939007|PMID:27348632	20201020	RGD		DNA:SNPs,haplotypes:promoter: -939G>A, -871A>G (human)	
1561104	Cd209d	CD209d molecule	gene	DOID:9005106	Animal Toxoplasmosis	treatment	ISO	RGD:1558208	D	RGD:39939012|PMID:32391004	20201020	RGD			
1561105	Gal3st4	galactose-3-O-sulfotransferase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561105	Gal3st4	galactose-3-O-sulfotransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561105	Gal3st4	galactose-3-O-sulfotransferase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561105	Gal3st4	galactose-3-O-sulfotransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561105	Gal3st4	galactose-3-O-sulfotransferase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561109	Slc35f4	solute carrier family 35, member F4	gene	DOID:1115	sarcoma		ISO	RGD:1351439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561109	Slc35f4	solute carrier family 35, member F4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561110	Fam151b	family with sequence similarity 151, member B	gene	DOID:1115	sarcoma		ISO	RGD:1603888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561110	Fam151b	family with sequence similarity 151, member B	gene	DOID:1324	lung cancer		ISO	RGD:1603888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561110	Fam151b	family with sequence similarity 151, member B	gene	DOID:1909	melanoma		ISO	RGD:1603888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561110	Fam151b	family with sequence similarity 151, member B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561110	Fam151b	family with sequence similarity 151, member B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561110	Fam151b	family with sequence similarity 151, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561110	Fam151b	family with sequence similarity 151, member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561113	Bbln	bublin coiled coil protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:10534	stomach cancer		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:1115	sarcoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:1324	lung cancer		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:1909	melanoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:3275	thymoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:4362	cervical cancer		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:5041	esophageal cancer		ISO	RGD:1347266	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561116	Heatr5a	HEAT repeat containing 5A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561119	Kcp	kielin cysteine rich BMP regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561119	Kcp	kielin cysteine rich BMP regulator	gene	DOID:1115	sarcoma		ISO	RGD:1601689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561119	Kcp	kielin cysteine rich BMP regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1601689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561119	Kcp	kielin cysteine rich BMP regulator	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561119	Kcp	kielin cysteine rich BMP regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1601689	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561119	Kcp	kielin cysteine rich BMP regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561119	Kcp	kielin cysteine rich BMP regulator	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561119	Kcp	kielin cysteine rich BMP regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:0050817	Stargardt disease		ISO	RGD:1351534	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Stargardt disease	PMID:30718709
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:0060604	ankyloglossia		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:0110366	retinitis pigmentosa 33		ISO	RGD:1351534	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:0110366	retinitis pigmentosa 33		ISO	RGD:1351534	D	RGD:7240710	20130425	OMIM			
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:0110366	retinitis pigmentosa 33		ISO	RGD:1351534	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 33 | ClinVar Annotator: match by term: Retinitis pigmentosa 33 | ClinVar Annotator: match by term: SNRNP200-related condition	PMID:23847139|PMID:23887765|PMID:25356976|PMID:25741868|PMID:27735924|PMID:28492532|PMID:28559085|PMID:29453956|PMID:31260034|PMID:32037395|PMID:3342916|PMID:33429167|PMID:33546218|PMID:36460718
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1351534	D	RGD:10448279|PMID:19878916	20151207	RGD		DNA:missense mutation:cds:p.S1087V (human)	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1351534	D	RGD:10448280|PMID:19710410	20151207	RGD		DNA:missense mutation:cds:p.R1090L (human)	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1351534	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28166811|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:9536098
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1351534	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:9536098
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1351534	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:31054281|PMID:9536098
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1351534	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:31054281|PMID:34906470|PMID:9536098
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1351534	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:31054281|PMID:34906470|PMID:36909829|PMID:9536098
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1351534	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24664689|PMID:24940031|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28045043|PMID:28076437|PMID:28492532|PMID:28512305|PMID:28559085|PMID:30360737|PMID:30718709|PMID:31054281|PMID:31213501|PMID:31260034|PMID:31486839|PMID:32037395|PMID:32090030|PMID:32531858|PMID:32581362|PMID:33411470|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33946315|PMID:34440443|PMID:34721897|PMID:34758253|PMID:34906470|PMID:35138024|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1351534	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:17576681|PMID:23887765|PMID:25741868|PMID:26355662|PMID:28492532|PMID:28512305|PMID:31054281|PMID:34906470|PMID:36909829|PMID:9536098
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:1059	intellectual disability		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:13209	right bundle branch block		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Right bundle branch block	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:1324	lung cancer		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:1657	ventricular septal defect		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:1909	melanoma		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:2340	craniosynostosis		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:2394	ovarian cancer		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:3070	high grade glioma		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:3275	thymoma		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:5041	esophageal cancer		ISO	RGD:1351534	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:5679	retinal disease		ISO	RGD:1351534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:24938718|PMID:25097241|PMID:25741868|PMID:28492532|PMID:31486839
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:630	genetic disease		ISO	RGD:1351534	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19878916|PMID:24302620|PMID:25741868|PMID:28492532|PMID:31260034
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:83	cataract		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:8488	polyhydramnios		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:8501	fundus dystrophy		ISO	RGD:1351534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:19878916|PMID:21618346|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:27208204|PMID:28041643|PMID:28045043|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:31054281|PMID:31213501|PMID:31260034|PMID:31486839|PMID:32037395|PMID:32090030|PMID:32531858|PMID:32581362|PMID:3342916|PMID:33429167|PMID:33576794|PMID:33598457|PMID:33749171|PMID:34440443|PMID:34758253|PMID:35138024|PMID:36284460|PMID:36284670|PMID:36819107
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Subarachnoid hemorrhage	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9003133	Hypertelorism		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9005120	Pigmented Nevus		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanocytic nevus	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9007573	Flatfoot		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes valgus	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9423	blepharitis		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharitis	
1561120	Snrnp200	small nuclear ribonucleoprotein U5 subunit 200	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1351534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1561121	Phldb3	pleckstrin homology-like domain, family B, member 3	gene	DOID:1324	lung cancer		ISO	RGD:1345533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561121	Phldb3	pleckstrin homology-like domain, family B, member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1345533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561121	Phldb3	pleckstrin homology-like domain, family B, member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561121	Phldb3	pleckstrin homology-like domain, family B, member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561121	Phldb3	pleckstrin homology-like domain, family B, member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1345533	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561121	Phldb3	pleckstrin homology-like domain, family B, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561121	Phldb3	pleckstrin homology-like domain, family B, member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561121	Phldb3	pleckstrin homology-like domain, family B, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561121	Phldb3	pleckstrin homology-like domain, family B, member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345533	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561123	Itgax	integrin subunit alpha X	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561123	Itgax	integrin subunit alpha X	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561123	Itgax	integrin subunit alpha X	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1348968	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16764927
1561123	Itgax	integrin subunit alpha X	gene	DOID:10534	stomach cancer		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561123	Itgax	integrin subunit alpha X	gene	DOID:1115	sarcoma		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561123	Itgax	integrin subunit alpha X	gene	DOID:1324	lung cancer		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561123	Itgax	integrin subunit alpha X	gene	DOID:1909	melanoma		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561123	Itgax	integrin subunit alpha X	gene	DOID:3070	high grade glioma		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561123	Itgax	integrin subunit alpha X	gene	DOID:3275	thymoma		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561123	Itgax	integrin subunit alpha X	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561123	Itgax	integrin subunit alpha X	gene	DOID:4362	cervical cancer		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561123	Itgax	integrin subunit alpha X	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561123	Itgax	integrin subunit alpha X	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561123	Itgax	integrin subunit alpha X	gene	DOID:5041	esophageal cancer		ISO	RGD:1348968	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561123	Itgax	integrin subunit alpha X	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561123	Itgax	integrin subunit alpha X	gene	DOID:6039	uveal melanoma		ISO	RGD:1348968	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1561123	Itgax	integrin subunit alpha X	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561123	Itgax	integrin subunit alpha X	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1561123	Itgax	integrin subunit alpha X	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561123	Itgax	integrin subunit alpha X	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561123	Itgax	integrin subunit alpha X	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561125	Paox	polyamine oxidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561125	Paox	polyamine oxidase	gene	DOID:0051061	stroke		ISO	RGD:1320571	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16269634
1561125	Paox	polyamine oxidase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320571	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1561125	Paox	polyamine oxidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561125	Paox	polyamine oxidase	gene	DOID:1909	melanoma		ISO	RGD:1320571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561125	Paox	polyamine oxidase	gene	DOID:3275	thymoma		ISO	RGD:1320571	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561125	Paox	polyamine oxidase	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1320571	D	RGD:151667418|PMID:31016788	20220407	RGD		DNA:SNPs: :rs7316, rs1046175(human)	
1561125	Paox	polyamine oxidase	gene	DOID:4362	cervical cancer		ISO	RGD:1320571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561125	Paox	polyamine oxidase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561125	Paox	polyamine oxidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1320571	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561125	Paox	polyamine oxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561125	Paox	polyamine oxidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561126	Ccdc33	coiled-coil domain containing 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561126	Ccdc33	coiled-coil domain containing 33	gene	DOID:10534	stomach cancer		ISO	RGD:1602211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561126	Ccdc33	coiled-coil domain containing 33	gene	DOID:4362	cervical cancer		ISO	RGD:1602211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561126	Ccdc33	coiled-coil domain containing 33	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561126	Ccdc33	coiled-coil domain containing 33	gene	DOID:5041	esophageal cancer		ISO	RGD:1602211	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561126	Ccdc33	coiled-coil domain containing 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561126	Ccdc33	coiled-coil domain containing 33	gene	DOID:9256	colorectal cancer		ISO	RGD:1602211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	
1561131	Itprid1	ITPR interacting domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561131	Itprid1	ITPR interacting domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561131	Itprid1	ITPR interacting domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561131	Itprid1	ITPR interacting domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561131	Itprid1	ITPR interacting domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561132	Susd5	sushi domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561140	Zbtb3	zinc finger and BTB domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1353634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561140	Zbtb3	zinc finger and BTB domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1353634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561140	Zbtb3	zinc finger and BTB domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561140	Zbtb3	zinc finger and BTB domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561142	Asb12	ankyrin repeat and SOCS box-containing 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561142	Asb12	ankyrin repeat and SOCS box-containing 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561144	Chst6	carbohydrate sulfotransferase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561144	Chst6	carbohydrate sulfotransferase 6	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1342606	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1561144	Chst6	carbohydrate sulfotransferase 6	gene	DOID:0070438	retinal macular dystrophy		ISS	RGD:1557219	D	RGD:13592920	20260625	MouseDO			
1561144	Chst6	carbohydrate sulfotransferase 6	gene	DOID:2565	macular corneal dystrophy		ISO	RGD:1342606	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561144	Chst6	carbohydrate sulfotransferase 6	gene	DOID:2565	macular corneal dystrophy		ISO	RGD:1342606	D	RGD:7240710	20130619	OMIM			
1561144	Chst6	carbohydrate sulfotransferase 6	gene	DOID:2565	macular corneal dystrophy		ISO	RGD:1342606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MACULAR CORNEAL DYSTROPHY, TYPE I | ClinVar Annotator: match by term: MACULAR CORNEAL DYSTROPHY, TYPE II | ClinVar Annotator: match by term: Macular corneal dystrophy	PMID:11017086|PMID:11139648|PMID:11278593|PMID:11818380|PMID:12824236|PMID:12882769|PMID:12882775|PMID:14609920|PMID:14735064|PMID:14984470|PMID:15013869|PMID:15652851|PMID:16207214|PMID:16568029|PMID:17093400|PMID:17896316|PMID:17962390|PMID:18500531|PMID:18815430|PMID:19204788|PMID:19223992|PMID:19337156|PMID:19365571|PMID:19710953|PMID:19734134|PMID:20539220|PMID:21242781|PMID:22261655|PMID:24033266|PMID:24311932|PMID:24926691|PMID:25081284|PMID:25741868|PMID:26604660|PMID:26748743|PMID:27439461|PMID:27829782|PMID:28492532|PMID:29221207|PMID:30716718|PMID:32472422|PMID:32543930|PMID:33816482|PMID:33987320|PMID:34826417|PMID:35985662
1561144	Chst6	carbohydrate sulfotransferase 6	gene	DOID:2566	corneal dystrophy		ISO	RGD:1342606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy	PMID:25741868
1561144	Chst6	carbohydrate sulfotransferase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561144	Chst6	carbohydrate sulfotransferase 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561144	Chst6	carbohydrate sulfotransferase 6	gene	DOID:630	genetic disease		ISO	RGD:1342606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1561144	Chst6	carbohydrate sulfotransferase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561145	Tmem273	transmembrane protein 273	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344407	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561145	Tmem273	transmembrane protein 273	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561145	Tmem273	transmembrane protein 273	gene	DOID:10534	stomach cancer		ISO	RGD:1344407	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561145	Tmem273	transmembrane protein 273	gene	DOID:4362	cervical cancer		ISO	RGD:1344407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561145	Tmem273	transmembrane protein 273	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561145	Tmem273	transmembrane protein 273	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561145	Tmem273	transmembrane protein 273	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561145	Tmem273	transmembrane protein 273	gene	DOID:9256	colorectal cancer		ISO	RGD:1344407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561149	Nhsl3	NHS like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561149	Nhsl3	NHS like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561149	Nhsl3	NHS like 3	gene	DOID:3275	thymoma		ISO	RGD:1602871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561149	Nhsl3	NHS like 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561149	Nhsl3	NHS like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561149	Nhsl3	NHS like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561149	Nhsl3	NHS like 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602871	D	RGD:11554173	20240206	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1561153	Myo7b	myosin VIIb	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561153	Myo7b	myosin VIIb	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561153	Myo7b	myosin VIIb	gene	DOID:10534	stomach cancer		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561153	Myo7b	myosin VIIb	gene	DOID:1909	melanoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561153	Myo7b	myosin VIIb	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561153	Myo7b	myosin VIIb	gene	DOID:3275	thymoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561153	Myo7b	myosin VIIb	gene	DOID:4362	cervical cancer		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561153	Myo7b	myosin VIIb	gene	DOID:440	neuromuscular disease		ISO	RGD:1352567	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
1561153	Myo7b	myosin VIIb	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561153	Myo7b	myosin VIIb	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561153	Myo7b	myosin VIIb	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561153	Myo7b	myosin VIIb	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
1561153	Myo7b	myosin VIIb	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561153	Myo7b	myosin VIIb	gene	DOID:9007661	Dwarfism		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1561153	Myo7b	myosin VIIb	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561153	Myo7b	myosin VIIb	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561158	Ms4a15	membrane spanning 4-domains A15	gene	DOID:1324	lung cancer		ISO	RGD:1603162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561158	Ms4a15	membrane spanning 4-domains A15	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1561158	Ms4a15	membrane spanning 4-domains A15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561167	Tmem186	transmembrane protein 186	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561167	Tmem186	transmembrane protein 186	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561167	Tmem186	transmembrane protein 186	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561167	Tmem186	transmembrane protein 186	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:0050890	synucleinopathy	ameliorates	IMP		D	RGD:13462057|PMID:24927544	20221201	RGD			
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:0060180	colitis		ISO	RGD:1557751	D	RGD:5508401|PMID:21983832	20111014	RGD			
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:0060260	ptosis		ISO	RGD:1353141	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:0060371	Parkinson's disease 8		ISO	RGD:1353141	D	RGD:5508405|PMID:21796139	20111014	RGD		DNA:missense mutation:cds:p.G2385R (human)	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:0060371	Parkinson's disease 8		ISO	RGD:1353141	D	RGD:7240710	20130221	OMIM			
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:0060371	Parkinson's disease 8		ISO	RGD:1353141	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 8 | ClinVar Annotator: match by term: LRRK2-related condition | ClinVar Annotator: match by term: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Parkinson disease 8, autosomal dominant	PMID:15541308|PMID:15541309|PMID:15852371|PMID:15880653|PMID:15925109|PMID:16157901|PMID:16157908|PMID:16172858|PMID:16199547|PMID:16247070|PMID:16251215|PMID:16269443|PMID:16321986|PMID:16333314|PMID:16533964|PMID:16602113|PMID:16633828|PMID:16750377|PMID:16758483|PMID:16788020|PMID:16939701|PMID:16991141|PMID:17019612|PMID:17050822|PMID:17078063|PMID:17095157|PMID:17149743|PMID:17179858|PMID:17200152|PMID:17216639|PMID:17222106|PMID:17314670|PMID:17419834|PMID:17427941|PMID:17442267|PMID:17447891|PMID:17482357|PMID:17523199|PMID:17576681|PMID:17622782|PMID:17623048|PMID:17659642|PMID:17720280|PMID:17803033|PMID:17804834|PMID:17914064|PMID:18098275|PMID:18197194|PMID:18213618|PMID:18230735|PMID:18265005|PMID:18316234|PMID:18337586|PMID:18358451|PMID:18523869|PMID:18688798|PMID:18704525|PMID:18923807|PMID:18973254|PMID:18973807|PMID:19006185|PMID:19020907|PMID:19152345|PMID:19302196|PMID:19308469|PMID:19343804|PMID:19357115|PMID:19397894|PMID:19405094|PMID:19472409|PMID:19489756|PMID:19527940|PMID:19625296|PMID:19640773|PMID:19667187|PMID:19735093|PMID:19741132|PMID:19781641|PMID:19800393|PMID:19854095|PMID:20177695|PMID:20186690|PMID:20301387|PMID:20386743|PMID:20443975|PMID:20642453|PMID:20669299|PMID:20673920|PMID:20721913|PMID:21060682|PMID:21406209|PMID:21494637|PMID:21538529|PMID:21641848|PMID:21658387|PMID:21700325|PMID:21796139|PMID:21885347|PMID:22004453|PMID:22243833|PMID:22342962|PMID:22415848|PMID:22445250|PMID:22575234|PMID:22612223|PMID:22988866|PMID:22988870|PMID:23124679|PMID:23241358|PMID:23241745|PMID:23268655|PMID:23600457|PMID:23726462|PMID:23764467|PMID:23913756|PMID:23963289|PMID:24033266|PMID:24046064|PMID:24082139|PMID:24095219|PMID:24339985|PMID:24351927|PMID:24357540|PMID:24360742|PMID:24375786|PMID:24470158|PMID:24488318|PMID:24496098|PMID:24559644|PMID:24565865|PMID:24695735|PMID:24973808|PMID:25009464|PMID:25027012|PMID:25127457|PMID:25133958|PMID:25174650|PMID:25174890|PMID:25243190|PMID:25316291|PMID:25330418|PMID:25355420|PMID:25378673|PMID:25466404|PMID:25511328|PMID:25640679|PMID:25741868|PMID:25821816|PMID:25943890|PMID:25962553|PMID:26213354|PMID:26251043|PMID:26311745|PMID:26363496|PMID:26467025|PMID:26687033|PMID:27013965|PMID:27094865|PMID:27111571|PMID:27294386|PMID:27393345|PMID:27798102|PMID:27832104|PMID:28103901|PMID:28130640|PMID:28166811|PMID:28453723|PMID:28492532|PMID:29029963|PMID:29248340|PMID:29321258|PMID:29332010|PMID:29369408|PMID:29800472|PMID:29887346|PMID:30039155|PMID:30049590|PMID:30363439|PMID:30502028|PMID:30598256|PMID:30796162|PMID:30917570|PMID:31182772|PMID:31487119|PMID:32171587|PMID:32244201|PMID:32398759|PMID:32557143|PMID:32580205|PMID:32613234|PMID:32677286|PMID:32677319|PMID:32707456|PMID:32740907|PMID:32794657|PMID:33158606|PMID:33281709|PMID:33640967|PMID:33818904|PMID:33836114|PMID:34542912|PMID:35608967|PMID:35768426|PMID:35861376|PMID:35950872|PMID:36006382|PMID:36879366|PMID:37256495|PMID:37371062|PMID:37750340|PMID:38137339|PMID:38191580|PMID:38753688|PMID:40786864|PMID:41744785|PMID:9536098
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:0060371	Parkinson's disease 8		ISS	RGD:1557751	D	RGD:13592920	20240425	MouseDO		OMIM:607060	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease, late-onset	PMID:15541309|PMID:21538529|PMID:24565865|PMID:27111571|PMID:28492532
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1353141	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:23046578|PMID:25017139|PMID:26558463
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1353141	D	RGD:5508414|PMID:20729864	20111017	RGD			
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:15541309|PMID:16333314|PMID:17622782|PMID:20301387|PMID:20443975|PMID:22415848|PMID:24339985|PMID:25378673|PMID:25741868|PMID:26467025|PMID:27423549|PMID:28492532|PMID:32740907|PMID:33001463|PMID:35861376|PMID:35950872|PMID:40786864
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:0080856	vascular Parkinsonism		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular parkinsonism	PMID:15541309|PMID:16333314|PMID:17622782|PMID:20301387|PMID:20443975|PMID:22415848|PMID:24339985|PMID:25378673|PMID:25741868|PMID:26467025|PMID:27423549|PMID:28492532|PMID:32740907|PMID:33001463|PMID:35861376|PMID:35950872|PMID:40786864
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:1024	leprosy		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leprosy, susceptibility to, 1	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:1289	neurodegenerative disease		IMP		D	RGD:13462057|PMID:24927544	20171208	RGD			
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1353141	D	RGD:10450518|PMID:26223426	20160115	RGD			
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1353141	D	RGD:10450521|PMID:25639775	20160115	RGD			
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1353141	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:17388990|PMID:19915575|PMID:19915576|PMID:20205471|PMID:22043175|PMID:23017109|PMID:23472874|PMID:23628791|PMID:25149416|PMID:25475535|PMID:25631236
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1353141	D	RGD:5508399|PMID:21989859	20111014	RGD		DNA:missense mutations:cds:multiple	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1353141	D	RGD:5508404|PMID:21954089	20111014	RGD		DNA:missense mutation:cds:p.G2019S (human)	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1353141	D	RGD:5508408|PMID:21167764	20111014	RGD		DNA:missense mutations:cds:p.R1628P, p.S1647T, p.G2385R (human)	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1353141	D	RGD:5508415|PMID:20721916	20111017	RGD		DNA:mutation: :p.R1441G (human)	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1353141	D	RGD:5508416|PMID:20669305	20111017	RGD		DNA:missense mutation:cds:p.N1437H (c.4309C>A) (human)	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1353141	D	RGD:5508420|PMID:20720502	20111017	RGD			
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease	PMID:15541309|PMID:16333314|PMID:17622782|PMID:20301387|PMID:20443975|PMID:22415848|PMID:24339985|PMID:25378673|PMID:25741868|PMID:26467025|PMID:27423549|PMID:28492532|PMID:31731261|PMID:32740907|PMID:33001463|PMID:35861376|PMID:35950872|PMID:40786864
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:1353141	D	RGD:5508406|PMID:21483109	20111014	RGD		DNA:missense mutation:cds:p.G2019S (human)	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1353141	D	RGD:5508409|PMID:21159540	20111014	RGD		DNA:missense mutation:cds:p.R1398H (human)	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:162	cancer	susceptibility	ISO	RGD:1353141	D	RGD:5508410|PMID:20818610	20111014	RGD		associated with Parkinson Disease;DNA:missense mutation:cds:p.G2019S (human)	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16172858|PMID:19472409|PMID:20301387|PMID:21885347|PMID:25741868|PMID:28492532
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:289	endometriosis		ISO	RGD:1353141	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1353141	D	RGD:5508417|PMID:21375368	20111017	RGD		mRNA:increased expression:skeletal muscle	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1353141	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1353141	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:543	dystonia		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paroxysmal dystonia	PMID:25741868
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1353141	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15880653|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16157908|PMID:16172858|PMID:16240353|PMID:16251215|PMID:16269443|PMID:16269541|PMID:16311269|PMID:16333314|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16602113|PMID:16622854|PMID:16728648|PMID:16750377|PMID:16758483|PMID:16939701|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17078063|PMID:17215492|PMID:17353388|PMID:17803033|PMID:17938369|PMID:18213618|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:19357115|PMID:19472409|PMID:19489756|PMID:19527940|PMID:20008657|PMID:20197411|PMID:20301387|PMID:20413974|PMID:20669299|PMID:21115957|PMID:21234781|PMID:21280089|PMID:21753163|PMID:21850687|PMID:21885347|PMID:22445250|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:24816003|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29309488|PMID:29386392|PMID:29402177|PMID:30760999|PMID:33158606|PMID:33640967
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1353141	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15880653|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16157908|PMID:16172858|PMID:16240353|PMID:16251215|PMID:16269443|PMID:16269541|PMID:16311269|PMID:16311595|PMID:16333314|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16602113|PMID:16622854|PMID:16728648|PMID:16750377|PMID:16758483|PMID:16939701|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17078063|PMID:17215492|PMID:17353388|PMID:17803033|PMID:17938369|PMID:18213618|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:19357115|PMID:19472409|PMID:19489756|PMID:19527940|PMID:20008657|PMID:20197411|PMID:20301387|PMID:20413974|PMID:20669299|PMID:21115957|PMID:21234781|PMID:21280089|PMID:21753163|PMID:21850687|PMID:21885347|PMID:22445250|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:24816003|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29309488|PMID:29386392|PMID:29402177|PMID:30760999|PMID:32613234|PMID:33158606|PMID:33640967
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1353141	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15541309|PMID:15852371|PMID:15880653|PMID:16157908|PMID:16172858|PMID:16251215|PMID:16269443|PMID:16333314|PMID:16602113|PMID:16758483|PMID:16939701|PMID:17050822|PMID:17078063|PMID:17803033|PMID:19472409|PMID:19527940|PMID:20301387|PMID:20669299|PMID:21885347|PMID:22445250|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33158606|PMID:33640967|PMID:39051491
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1353141	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16172858|PMID:19472409|PMID:20301387|PMID:21885347|PMID:25741868|PMID:28492532|PMID:33640967|PMID:39051491
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1353141	D	RGD:5508419|PMID:17082220	20111017	RGD			
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1353141	D	RGD:5508401|PMID:21983832	20111014	RGD		DNA:point mutation: :p.T2397M (rs3761863) (human)	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:9000071	Signs and Symptoms		ISO	RGD:1353141	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:9001981	Weight Loss		ISO	RGD:1353141	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1353141	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:19741132
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16172858|PMID:19472409|PMID:20301387|PMID:21885347|PMID:25741868|PMID:28492532
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:9008297	Motor Disorders		ISO	RGD:1353141	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:9008514	Psychomotor Disorders		ISO	RGD:1353141	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353141	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1353141	D	RGD:5508418|PMID:17639429	20111017	RGD			
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1353141	D	RGD:8554872	20180410	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	
1561168	Lrrk2	leucine-rich repeat kinase 2	gene	DOID:9743	diabetic neuropathy		IEP		D	RGD:13462056|PMID:24810053	20171208	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:cerebellum, Purkinje cell	
1561169	Ccdc148	coiled-coil domain containing 148	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561169	Ccdc148	coiled-coil domain containing 148	gene	DOID:1324	lung cancer		ISO	RGD:1604533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561169	Ccdc148	coiled-coil domain containing 148	gene	DOID:13938	amenorrhea		ISO	RGD:1604533	D	RGD:8554872	20190416	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
1561169	Ccdc148	coiled-coil domain containing 148	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561171	Ccdc126	coiled-coil domain containing 126	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561171	Ccdc126	coiled-coil domain containing 126	gene	DOID:4362	cervical cancer		ISO	RGD:1602081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561171	Ccdc126	coiled-coil domain containing 126	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561171	Ccdc126	coiled-coil domain containing 126	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602081	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1561171	Ccdc126	coiled-coil domain containing 126	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561174	Bpifb4	BPI fold containing family B, member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561174	Bpifb4	BPI fold containing family B, member 4	gene	DOID:1115	sarcoma		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561174	Bpifb4	BPI fold containing family B, member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561174	Bpifb4	BPI fold containing family B, member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561174	Bpifb4	BPI fold containing family B, member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561183	Cep63	centrosomal protein 63	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:0050569	Seckel syndrome		ISS	RGD:1617588	D	RGD:13592920	20180518	MouseDO			
1561183	Cep63	centrosomal protein 63	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:0060058	lymphoma		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:0070006	Seckel syndrome 6		ISO	RGD:1602096	D	RGD:7240710	20140911	OMIM			
1561183	Cep63	centrosomal protein 63	gene	DOID:0070006	Seckel syndrome 6		ISO	RGD:1602096	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CEP63-related condition | ClinVar Annotator: match by term: Seckel syndrome 6	PMID:16199547|PMID:21983783|PMID:23936128|PMID:25741868|PMID:26158450|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:10907	microcephaly		ISO	RGD:1602096	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983783
1561183	Cep63	centrosomal protein 63	gene	DOID:10907	microcephaly		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1561183	Cep63	centrosomal protein 63	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561183	Cep63	centrosomal protein 63	gene	DOID:1115	sarcoma		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:1324	lung cancer		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:2340	craniosynostosis		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	
1561183	Cep63	centrosomal protein 63	gene	DOID:3275	thymoma		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:4362	cervical cancer		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:5041	esophageal cancer		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561183	Cep63	centrosomal protein 63	gene	DOID:6039	uveal melanoma		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:630	genetic disease		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:21983783|PMID:23936128|PMID:26158450|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:9005616	Micrognathism		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
1561183	Cep63	centrosomal protein 63	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:9008675	Dyskinesias		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	
1561183	Cep63	centrosomal protein 63	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561183	Cep63	centrosomal protein 63	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:18414213|PMID:25741868|PMID:28492532
1561183	Cep63	centrosomal protein 63	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:18414213|PMID:25741868|PMID:28492532
1561189	Retreg3	reticulophagy regulator family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561189	Retreg3	reticulophagy regulator family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1601713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561189	Retreg3	reticulophagy regulator family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561189	Retreg3	reticulophagy regulator family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561189	Retreg3	reticulophagy regulator family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561190	Nr2c2ap	nuclear receptor 2C2-associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1606467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561190	Nr2c2ap	nuclear receptor 2C2-associated protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561190	Nr2c2ap	nuclear receptor 2C2-associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561190	Nr2c2ap	nuclear receptor 2C2-associated protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561190	Nr2c2ap	nuclear receptor 2C2-associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:0080669	posterior polymorphous corneal dystrophy 4		ISO	RGD:1342517	D	RGD:7240710	20190315	OMIM			
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:0080669	posterior polymorphous corneal dystrophy 4		ISO	RGD:1342517	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 | ClinVar Annotator: match by term: Corneal dystrophy, posterior polymorphous, 4	PMID:24033266|PMID:25741868|PMID:28492532|PMID:29499165
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:0110557	autosomal dominant nonsyndromic deafness 28		ISO	RGD:1342517	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:0110557	autosomal dominant nonsyndromic deafness 28		ISO	RGD:1342517	D	RGD:1599382|PMID:12393799	20070201	RGD		DNA:nonsense mutation:exon:	
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:0110557	autosomal dominant nonsyndromic deafness 28		ISO	RGD:1342517	D	RGD:7240710	20130221	OMIM			
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:0110557	autosomal dominant nonsyndromic deafness 28		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 28 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 28	PMID:12393799|PMID:23813623|PMID:24033266|PMID:25342930|PMID:25741868|PMID:28492532|PMID:30311386
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1342517	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:1909	melanoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:2566	corneal dystrophy		ISO	RGD:1342517	D	RGD:8554872	20180710	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy	PMID:29499165
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:3275	thymoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342517	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:630	genetic disease		ISO	RGD:1342517	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1342517	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:9008992	ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME		ISO	RGD:1342517	D	RGD:7240710	20170308	OMIM			
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:9008992	ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME		ISO	RGD:1342517	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME | ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome	PMID:24033266|PMID:25741868|PMID:28492532
1561191	Grhl2	grainyhead-like transcription factor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1561196	Uchl3	ubiquitin C-terminal hydrolase L3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561196	Uchl3	ubiquitin C-terminal hydrolase L3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561196	Uchl3	ubiquitin C-terminal hydrolase L3	gene	DOID:1115	sarcoma		ISO	RGD:731673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561196	Uchl3	ubiquitin C-terminal hydrolase L3	gene	DOID:1324	lung cancer		ISO	RGD:731673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561196	Uchl3	ubiquitin C-terminal hydrolase L3	gene	DOID:2367	neuroaxonal dystrophy		ISO	RGD:731674	D	RGD:1302546|PMID:11555633	20150211	RGD			
1561196	Uchl3	ubiquitin C-terminal hydrolase L3	gene	DOID:4362	cervical cancer		ISO	RGD:731673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561196	Uchl3	ubiquitin C-terminal hydrolase L3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561196	Uchl3	ubiquitin C-terminal hydrolase L3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561196	Uchl3	ubiquitin C-terminal hydrolase L3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:731674	D	RGD:1302546|PMID:11555633	20150211	RGD			
1561196	Uchl3	ubiquitin C-terminal hydrolase L3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731673	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005
1561196	Uchl3	ubiquitin C-terminal hydrolase L3	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:731674	D	RGD:1302546|PMID:11555633	20150211	RGD			
1561200	Ankrd53	ankyrin repeat domain 53	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561200	Ankrd53	ankyrin repeat domain 53	gene	DOID:1324	lung cancer		ISO	RGD:1605329	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561200	Ankrd53	ankyrin repeat domain 53	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561200	Ankrd53	ankyrin repeat domain 53	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561200	Ankrd53	ankyrin repeat domain 53	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561201	Foxo4	forkhead box O4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561201	Foxo4	forkhead box O4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561201	Foxo4	forkhead box O4	gene	DOID:0080147	lymphoblastic lymphoma		ISO	RGD:1556902	D	RGD:155630604|PMID:17254969	20221025	RGD			
1561201	Foxo4	forkhead box O4	gene	DOID:1059	intellectual disability		ISO	RGD:1353756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
1561201	Foxo4	forkhead box O4	gene	DOID:10808	gastric ulcer		IEP		D	RGD:10402364|PMID:22735908	20151021	RGD		mRNA,protein:increased expression:gastric mucosa:	
1561201	Foxo4	forkhead box O4	gene	DOID:1324	lung cancer		ISO	RGD:1353756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561201	Foxo4	forkhead box O4	gene	DOID:251	alcohol-induced mental disorder		IEP		D	RGD:10402360|PMID:23292333	20151021	RGD		protein:increased phosphorylation:small intestine:	
1561201	Foxo4	forkhead box O4	gene	DOID:255	hemangioma		ISO	RGD:1556902	D	RGD:155630604|PMID:17254969	20221025	RGD			
1561201	Foxo4	forkhead box O4	gene	DOID:607	paraplegia		IEP		D	RGD:5509082|PMID:18236467	20151021	RGD		protein:increased expression:skeletal muscle:	
1561201	Foxo4	forkhead box O4	gene	DOID:9002514	Neointima		ISO	RGD:1556902	D	RGD:10402361|PMID:17242183	20151021	RGD			
1561201	Foxo4	forkhead box O4	gene	DOID:9002514	Neointima		ISO	RGD:1556902	D	RGD:10402362|PMID:16054032	20151021	RGD		protein:increased expression:smooth muscle cell:	
1561201	Foxo4	forkhead box O4	gene	DOID:9003816	Macrocephaly		ISO	RGD:1353756	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1561201	Foxo4	forkhead box O4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561201	Foxo4	forkhead box O4	gene	DOID:9008824	Sarcopenia		IEP		D	RGD:10402356|PMID:16870627	20151021	RGD			
1561203	Polr2h	RNA polymerase II, I and III subunit H	gene	DOID:1324	lung cancer		ISO	RGD:1314889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561203	Polr2h	RNA polymerase II, I and III subunit H	gene	DOID:4362	cervical cancer		ISO	RGD:1314889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561203	Polr2h	RNA polymerase II, I and III subunit H	gene	DOID:5041	esophageal cancer		ISO	RGD:1314889	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561203	Polr2h	RNA polymerase II, I and III subunit H	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561203	Polr2h	RNA polymerase II, I and III subunit H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561203	Polr2h	RNA polymerase II, I and III subunit H	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:0080600	COVID-19		ISO	RGD:1343770	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:0111428	essential tremor 1		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:1059	intellectual disability		ISO	RGD:1343770	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:10907	microcephaly		ISO	RGD:1343770	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:12849	autistic disorder		ISO	RGD:1343770	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism	
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:480	movement disease		ISO	RGD:1343770	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1561214	Pdzd4	PDZ domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561222	Rbpms2	RNA binding protein, mRNA processing factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561222	Rbpms2	RNA binding protein, mRNA processing factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561223	Vwde	von Willebrand factor D and EGF domains	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561223	Vwde	von Willebrand factor D and EGF domains	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561223	Vwde	von Willebrand factor D and EGF domains	gene	DOID:0080840	optic atrophy 12		ISO	RGD:2299987	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: optic atrophy 12	PMID:25741868
1561223	Vwde	von Willebrand factor D and EGF domains	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561223	Vwde	von Willebrand factor D and EGF domains	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561223	Vwde	von Willebrand factor D and EGF domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561223	Vwde	von Willebrand factor D and EGF domains	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561223	Vwde	von Willebrand factor D and EGF domains	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561223	Vwde	von Willebrand factor D and EGF domains	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2299987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561227	Map3k13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:0080375	gastroesophageal adenocarcinoma		ISO	RGD:1351586	D	RGD:151356972|PMID:33334899	20220221	RGD			
1561227	Map3k13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:10534	stomach cancer		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561227	Map3k13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:1115	sarcoma		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561227	Map3k13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:1324	lung cancer		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561227	Map3k13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:1909	melanoma		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561227	Map3k13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561227	Map3k13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:4362	cervical cancer		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561227	Map3k13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561227	Map3k13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1351586	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561227	Map3k13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561227	Map3k13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561227	Map3k13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561227	Map3k13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561238	Rnf122	ring finger protein 122	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561238	Rnf122	ring finger protein 122	gene	DOID:1324	lung cancer		ISO	RGD:1352221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561238	Rnf122	ring finger protein 122	gene	DOID:4362	cervical cancer		ISO	RGD:1352221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561238	Rnf122	ring finger protein 122	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561238	Rnf122	ring finger protein 122	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561238	Rnf122	ring finger protein 122	gene	DOID:9256	colorectal cancer		ISO	RGD:1352221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561241	Lcorl	ligand dependent nuclear receptor corepressor-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561241	Lcorl	ligand dependent nuclear receptor corepressor-like	gene	DOID:1115	sarcoma		ISO	RGD:1604965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561241	Lcorl	ligand dependent nuclear receptor corepressor-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561241	Lcorl	ligand dependent nuclear receptor corepressor-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561241	Lcorl	ligand dependent nuclear receptor corepressor-like	gene	DOID:9003996	Birth Weight		ISO	RGD:1604965	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23202124
1561241	Lcorl	ligand dependent nuclear receptor corepressor-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561243	Cep164	centrosomal protein 164	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1605084	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia	PMID:16199547|PMID:22863007|PMID:25741868|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853
1561243	Cep164	centrosomal protein 164	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1561243	Cep164	centrosomal protein 164	gene	DOID:0111123	nephronophthisis 15		ISO	RGD:1605084	D	RGD:7240710	20140911	OMIM			
1561243	Cep164	centrosomal protein 164	gene	DOID:0111123	nephronophthisis 15		ISO	RGD:1605084	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEP164-related condition | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 15 | ClinVar Annotator: match by term: Nephronophthisis 15	PMID:16199547|PMID:17576681|PMID:17954613|PMID:22863007|PMID:24882706|PMID:25340510|PMID:25616960|PMID:25741868|PMID:26546047|PMID:27708425|PMID:28125082|PMID:28492532|PMID:29974258|PMID:31345219|PMID:31785789|PMID:32055034|PMID:32367404|PMID:32483926|PMID:33111339|PMID:33249554|PMID:34013113|PMID:34132027|PMID:3442652|PMID:34499853|PMID:34556108|PMID:35112343|PMID:35728977|PMID:36273371|PMID:37324592|PMID:40769470|PMID:9536098
1561243	Cep164	centrosomal protein 164	gene	DOID:10534	stomach cancer		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561243	Cep164	centrosomal protein 164	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561243	Cep164	centrosomal protein 164	gene	DOID:1115	sarcoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561243	Cep164	centrosomal protein 164	gene	DOID:1324	lung cancer		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561243	Cep164	centrosomal protein 164	gene	DOID:1909	melanoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1561243	Cep164	centrosomal protein 164	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1561243	Cep164	centrosomal protein 164	gene	DOID:3275	thymoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1561243	Cep164	centrosomal protein 164	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561243	Cep164	centrosomal protein 164	gene	DOID:4362	cervical cancer		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561243	Cep164	centrosomal protein 164	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1561243	Cep164	centrosomal protein 164	gene	DOID:5041	esophageal cancer		ISO	RGD:1605084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561243	Cep164	centrosomal protein 164	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561243	Cep164	centrosomal protein 164	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561243	Cep164	centrosomal protein 164	gene	DOID:6039	uveal melanoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1561243	Cep164	centrosomal protein 164	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1561243	Cep164	centrosomal protein 164	gene	DOID:630	genetic disease		ISO	RGD:1605084	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1561243	Cep164	centrosomal protein 164	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1561243	Cep164	centrosomal protein 164	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1605084	D	RGD:151665169|PMID:22004425	20220315	RGD		associated with Chronic Hepatitis C;DNA:SNP: :rs573455 (human)	
1561243	Cep164	centrosomal protein 164	gene	DOID:8501	fundus dystrophy		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:22863007|PMID:25741868|PMID:28125082|PMID:28492532
1561243	Cep164	centrosomal protein 164	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1561243	Cep164	centrosomal protein 164	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561243	Cep164	centrosomal protein 164	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1561243	Cep164	centrosomal protein 164	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1561243	Cep164	centrosomal protein 164	gene	DOID:9256	colorectal cancer		ISO	RGD:1605084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1561250	Rup2	urinary protein 2	gene	DOID:3021	acute kidney failure		EXP		D	RGD:11554173	20180410	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
1561250	Rup2	urinary protein 2	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		EXP		D	RGD:11554173	20180410	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
1561254	Acer3	alkaline ceramidase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561254	Acer3	alkaline ceramidase 3	gene	DOID:0070744	early childhood-onset progressive leukodystrophy		ISO	RGD:1346570	D	RGD:7240710	20190315	OMIM			
1561254	Acer3	alkaline ceramidase 3	gene	DOID:0070744	early childhood-onset progressive leukodystrophy		ISO	RGD:1346570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACER3-related condition | ClinVar Annotator: match by term: Alkaline ceramidase 3 deficiency | ClinVar Annotator: match by term: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	PMID:25741868|PMID:26792856|PMID:28492532|PMID:30575723|PMID:36939041
1561254	Acer3	alkaline ceramidase 3	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1346570	D	RGD:35673324|PMID:31949129	20200714	RGD		mRNA:increased expression:liver	
1561254	Acer3	alkaline ceramidase 3	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	disease_progression	ISO	RGD:1558553	D	RGD:35673324|PMID:31949129	20200714	RGD			
1561254	Acer3	alkaline ceramidase 3	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1558553	D	RGD:35673324|PMID:31949129	20200714	RGD			
1561254	Acer3	alkaline ceramidase 3	gene	DOID:10579	leukodystrophy		ISO	RGD:1346570	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	
1561254	Acer3	alkaline ceramidase 3	gene	DOID:1115	sarcoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561254	Acer3	alkaline ceramidase 3	gene	DOID:1324	lung cancer		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561254	Acer3	alkaline ceramidase 3	gene	DOID:1909	melanoma		ISO	RGD:1346570	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1561254	Acer3	alkaline ceramidase 3	gene	DOID:1909	melanoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561254	Acer3	alkaline ceramidase 3	gene	DOID:219	colon cancer	severity	ISO	RGD:1558553	D	RGD:35673322|PMID:26938296	20200714	RGD		associated with colitis	
1561254	Acer3	alkaline ceramidase 3	gene	DOID:440	neuromuscular disease		ISO	RGD:1346570	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
1561254	Acer3	alkaline ceramidase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561254	Acer3	alkaline ceramidase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1346570	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561254	Acer3	alkaline ceramidase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346570	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561254	Acer3	alkaline ceramidase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561254	Acer3	alkaline ceramidase 3	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1346570	D	RGD:35673325|PMID:30097213	20200714	RGD			
1561254	Acer3	alkaline ceramidase 3	gene	DOID:9000099	Experimental Colitis		ISO	RGD:1558553	D	RGD:35673322|PMID:26938296	20200714	RGD		mRNA,protein:decreased expression, decreased activity:colon:	
1561254	Acer3	alkaline ceramidase 3	gene	DOID:9000099	Experimental Colitis	severity	ISO	RGD:1558553	D	RGD:35673322|PMID:26938296	20200714	RGD			
1561254	Acer3	alkaline ceramidase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561254	Acer3	alkaline ceramidase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561254	Acer3	alkaline ceramidase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561255	Lrig3	leucine-rich repeats and immunoglobulin-like domains 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561255	Lrig3	leucine-rich repeats and immunoglobulin-like domains 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561255	Lrig3	leucine-rich repeats and immunoglobulin-like domains 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561255	Lrig3	leucine-rich repeats and immunoglobulin-like domains 3	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1347856	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1561255	Lrig3	leucine-rich repeats and immunoglobulin-like domains 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561255	Lrig3	leucine-rich repeats and immunoglobulin-like domains 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561255	Lrig3	leucine-rich repeats and immunoglobulin-like domains 3	gene	DOID:4362	cervical cancer		ISO	RGD:1347856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561255	Lrig3	leucine-rich repeats and immunoglobulin-like domains 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347856	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561255	Lrig3	leucine-rich repeats and immunoglobulin-like domains 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561255	Lrig3	leucine-rich repeats and immunoglobulin-like domains 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561255	Lrig3	leucine-rich repeats and immunoglobulin-like domains 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561256	Shisa2	shisa family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561258	Myl10	myosin light chain 10	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1561260	Triqk	triple QxxK/R motif containing	gene	DOID:1115	sarcoma		ISO	RGD:2299991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561260	Triqk	triple QxxK/R motif containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2299991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561260	Triqk	triple QxxK/R motif containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2299991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561260	Triqk	triple QxxK/R motif containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2299991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561261	Zic3	Zic family zinc finger 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561261	Zic3	Zic family zinc finger 3	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1557273	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1561261	Zic3	Zic family zinc finger 3	gene	DOID:0051016	visceral heterotaxy 1		ISO	RGD:1347201	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561261	Zic3	Zic family zinc finger 3	gene	DOID:0051016	visceral heterotaxy 1		ISO	RGD:1347201	D	RGD:7240710	20150304	OMIM			
1561261	Zic3	Zic family zinc finger 3	gene	DOID:0051016	visceral heterotaxy 1		ISO	RGD:1347201	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED | ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 1, X-LINKED | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia	PMID:10980576|PMID:14681828|PMID:17185387|PMID:17764085|PMID:23872418|PMID:24123890|PMID:25741868|PMID:26014430|PMID:27406248|PMID:28492532|PMID:30622330|PMID:32753700|PMID:9354794
1561261	Zic3	Zic family zinc finger 3	gene	DOID:0060985	preaxial polydactyly type IV		ISO	RGD:1557273	D	RGD:12738220|PMID:22234993	20170130	RGD			
1561261	Zic3	Zic family zinc finger 3	gene	DOID:0080006	bone development disease		ISO	RGD:1347201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17127413
1561261	Zic3	Zic family zinc finger 3	gene	DOID:0111766	X-linked VACTERL association		ISO	RGD:1347201	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561261	Zic3	Zic family zinc finger 3	gene	DOID:0111766	X-linked VACTERL association		ISO	RGD:1347201	D	RGD:7240710	20151216	OMIM			
1561261	Zic3	Zic family zinc finger 3	gene	DOID:0111766	X-linked VACTERL association		ISO	RGD:1347201	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus	PMID:14681828|PMID:24123890|PMID:25741868|PMID:27821535|PMID:28492532
1561261	Zic3	Zic family zinc finger 3	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1347201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
1561261	Zic3	Zic family zinc finger 3	gene	DOID:2907	Goldenhar syndrome		ISS	RGD:1557273	D	RGD:13592920	20180518	MouseDO		OMIM:164210	
1561261	Zic3	Zic family zinc finger 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347201	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561261	Zic3	Zic family zinc finger 3	gene	DOID:630	genetic disease		ISO	RGD:1347201	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1561261	Zic3	Zic family zinc finger 3	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1347201	D	RGD:1599909|PMID:9354794	20070221	RGD		X-linked visceral heterotaxy, OMIM:306955	
1561261	Zic3	Zic family zinc finger 3	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:1347201	D	RGD:1599909|PMID:9354794	20070221	RGD		X-linked visceral heterotaxy, OMIM:306955	
1561261	Zic3	Zic family zinc finger 3	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1347201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17127413
1561261	Zic3	Zic family zinc finger 3	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1347201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17127413
1561261	Zic3	Zic family zinc finger 3	gene	DOID:9565	dextrocardia		ISO	RGD:1347201	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17127413
1561264	Fdx2	ferredoxin 2	gene	DOID:0070734	episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy		ISO	RGD:1604250	D	RGD:7240710	20190424	OMIM			
1561264	Fdx2	ferredoxin 2	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1604250	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0051048	congenital disorder of glycosylation type IIr		ISO	RGD:1346001	D	RGD:7240710	20200429	OMIM			
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0051048	congenital disorder of glycosylation type IIr		ISO	RGD:1346001	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: CDG IIr | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIr	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29127204
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0060806	syndromic X-linked intellectual disability Hedera type		ISO	RGD:1346001	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0060806	syndromic X-linked intellectual disability Hedera type		ISO	RGD:1346001	D	RGD:7240710	20130425	OMIM			
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0060806	syndromic X-linked intellectual disability Hedera type		ISO	RGD:1346001	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type	PMID:15746149|PMID:17576681|PMID:25741868|PMID:26467025|PMID:26467484|PMID:28492532|PMID:9536098
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0112105	X-linked parkinsonism-spasticity syndrome		ISO	RGD:1346001	D	RGD:7240710	20140903	OMIM			
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:0112105	X-linked parkinsonism-spasticity syndrome		ISO	RGD:1346001	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Parkinsonism with spasticity, X-linked | ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome	PMID:25741868|PMID:26467025|PMID:28492532
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:10763	hypertension		IEP		D	RGD:5132599|PMID:21321306	20181115	RGD			
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1346001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:1909	melanoma		ISO	RGD:1346001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:630	genetic disease		ISO	RGD:1346001	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:9000784	Fibrosis		ISO	RGD:1346001	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21795644
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	IEP		D	RGD:401793718|PMID:32604820	20230815	RGD		associated with maternal adenine induced chronic kidney disease	
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561269	Atp6ap2	ATPase H+ transporting accessory protein 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1346001	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
1561270	Zfp248	zinc finger protein 248	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349221	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561270	Zfp248	zinc finger protein 248	gene	DOID:1909	melanoma		ISO	RGD:1349221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561270	Zfp248	zinc finger protein 248	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561274	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561274	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561274	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561274	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561274	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561274	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344618	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561274	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561274	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561274	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561274	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561274	Vsig2	V-set and immunoglobulin domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1344618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0050152	aspiration pneumonia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aspiration pneumonia	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0060046	aphasia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aphasia	PMID:25741868
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0060801	MEHMO syndrome		ISO	RGD:1346365	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0060801	MEHMO syndrome		ISO	RGD:1346365	D	RGD:7240710	20190315	OMIM			
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0060801	MEHMO syndrome		ISO	RGD:1346365	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EIF2S3-related condition | ClinVar Annotator: match by term: MEHMO SYNDROME | ClinVar Annotator: match by term: MEHMO syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Borck type	PMID:25741868|PMID:25741869
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:0080833	laryngomalacia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1346365	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:1059	intellectual disability		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:10907	microcephaly		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:1115	sarcoma		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:11162	respiratory failure		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:25741868
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:12698	gynecomastia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gynecomastia	PMID:25741868
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:1324	lung cancer		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:1588	thrombocytopenia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:1826	epilepsy		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:1924	hypogonadism		ISO	RGD:1346365	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:2452	thrombophilia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombophilia	PMID:25741868
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:3070	high grade glioma		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:540	strabismus		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:552	pneumonia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:630	genetic disease		ISO	RGD:1346365	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:784	chronic kidney disease		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9001581	Constipation		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9406	hypopituitarism		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypopituitarism	PMID:25741868
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9452	steatotic liver disease		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9477	pulmonary embolism		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism	PMID:25741868
1561279	Eif2s3	eukaryotic translation initiation factor 2 subunit gamma	gene	DOID:9840	esotropia		ISO	RGD:1346365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
1561287	Fam32a	family with sequence similarity 32, member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561287	Fam32a	family with sequence similarity 32, member A	gene	DOID:1115	sarcoma		ISO	RGD:1316761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561287	Fam32a	family with sequence similarity 32, member A	gene	DOID:1909	melanoma		ISO	RGD:1316761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561287	Fam32a	family with sequence similarity 32, member A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561287	Fam32a	family with sequence similarity 32, member A	gene	DOID:3070	high grade glioma		ISO	RGD:1316761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561287	Fam32a	family with sequence similarity 32, member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1603679	D	RGD:8554872	20190312	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:3275	thymoma		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603679	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:540	strabismus		ISO	RGD:1603679	D	RGD:8554872	20190312	ClinVar		ClinVar Annotator: match by term: Strabismus	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561291	Ahctf1	AT hook containing transcription factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561292	Il22	interleukin 22	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1344987	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21227906
1561292	Il22	interleukin 22	gene	DOID:2841	asthma		ISO	RGD:1344987	D	RGD:5147403|PMID:21297073	20110803	RGD		protein:increased expression:serum	
1561292	Il22	interleukin 22	gene	DOID:2841	asthma		ISO	RGD:1344987	D	RGD:632517866|PMID:27931975	20260130	RGD		protein:increased expression:bronchial mucosa, nasal cavity mucosa	
1561292	Il22	interleukin 22	gene	DOID:2841	asthma		ISO	RGD:1556865	D	RGD:5147401|PMID:21789181	20110803	RGD			
1561292	Il22	interleukin 22	gene	DOID:2841	asthma	severity	ISO	RGD:1344987	D	RGD:5147409|PMID:21535180	20110803	RGD		mRNA:increased expression:blood, mononuclear cell	
1561292	Il22	interleukin 22	gene	DOID:2841	asthma	treatment	IMP		D	RGD:11046261|PMID:21998459	20160404	RGD			
1561292	Il22	interleukin 22	gene	DOID:3382	liposarcoma		ISS	RGD:1556865	D	RGD:13592920	20240425	MouseDO			
1561292	Il22	interleukin 22	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1344987	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25257527
1561292	Il22	interleukin 22	gene	DOID:399	tuberculosis		ISO	RGD:1344987	D	RGD:5147402|PMID:21767990	20110803	RGD			
1561292	Il22	interleukin 22	gene	DOID:4483	rhinitis	severity	ISO	RGD:1344987	D	RGD:5147409|PMID:21535180	20110803	RGD		mRNA:increased expression:blood, mononuclear cell	
1561292	Il22	interleukin 22	gene	DOID:820	myocarditis		IMP		D	RGD:5147414|PMID:16951323	20110803	RGD			
1561292	Il22	interleukin 22	gene	DOID:874	bacterial pneumonia		ISO	RGD:1556865	D	RGD:5147404|PMID:21178015	20110803	RGD			
1561292	Il22	interleukin 22	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:1344987	D	RGD:5147406|PMID:20463292	20110803	RGD			
1561292	Il22	interleukin 22	gene	DOID:9000955	Acute Otitis Media	disease_progression	IEP		D	RGD:40818299|PMID:27497403	20201118	RGD		protein:increased expression:serum (rat)	
1561292	Il22	interleukin 22	gene	DOID:9001415	Mycobacterium Infections		ISO	RGD:1344987	D	RGD:5147407|PMID:19864591	20110803	RGD			
1561292	Il22	interleukin 22	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1344987	D	RGD:632518365|PMID:29311948	20260223	RGD		associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus, blood	
1561292	Il22	interleukin 22	gene	DOID:9001488	Human Influenza		ISO	RGD:1556865	D	RGD:5147404|PMID:21178015	20110803	RGD			
1561292	Il22	interleukin 22	gene	DOID:9001488	Human Influenza		ISO	RGD:1556865	D	RGD:5147405|PMID:20504940	20110803	RGD			
1561292	Il22	interleukin 22	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IEP		D	RGD:2311529|PMID:19269041	20110803	RGD			
1561292	Il22	interleukin 22	gene	DOID:9003369	Strongylida Infections		ISO	RGD:1344987	D	RGD:632518403|PMID:26542223	20260213	RGD		associated with pulmonary tuberculosis, protein:decreased expression:blood plasma	
1561292	Il22	interleukin 22	gene	DOID:9004484	Sepsis		IEP		D	RGD:5147412|PMID:19664145	20110803	RGD		protein:increased expression:plasma	
1561292	Il22	interleukin 22	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1556865	D	RGD:4888524|PMID:20498020	20110803	RGD			
1561292	Il22	interleukin 22	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1344987	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:15122762|PMID:16212920|PMID:23375450
1561292	Il22	interleukin 22	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1344987	D	RGD:632518365|PMID:29311948	20260206	RGD		protein:increased expression:blood	
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:0050871	fibroma		ISO	RGD:1346318	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12973667|PMID:14508707
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:0050871	fibroma	susceptibility	ISO	RGD:1346318	D	RGD:1599125|PMID:14508707	20070117	RGD			
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:0060466	gingival fibromatosis		ISO	RGD:1346318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingival fibromatosis	
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:0111669	hyaline fibromatosis syndrome		ISO	RGD:1346318	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12973667|PMID:14508707
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:0111669	hyaline fibromatosis syndrome		ISO	RGD:1346318	D	RGD:7240710	20130425	OMIM			
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:0111669	hyaline fibromatosis syndrome		ISO	RGD:1346318	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: ANTXR2-related condition | ClinVar Annotator: match by term: HYALINE FIBROMATOSIS SYNDROME | ClinVar Annotator: match by term: Hyaline fibromatosis syndrome | ClinVar Annotator: match by term: Juvenile hyaline fibromatosis | ClinVar Annotator: match by term: hyaline fibromatosis syndrome	PMID:12973667|PMID:14508707|PMID:15725249|PMID:19191226|PMID:21328543|PMID:22383261|PMID:23386947|PMID:24088041|PMID:25741868|PMID:25781883|PMID:26335786|PMID:26633545|PMID:28492532|PMID:28914269|PMID:31455396|PMID:35726349|PMID:38814306|PMID:38989346
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:10611	protein-losing enteropathy		ISO	RGD:1346318	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Protein-losing enteropathy	PMID:12973667|PMID:14508707|PMID:15725249|PMID:22383261|PMID:25741868|PMID:26335786|PMID:28492532|PMID:28914269
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:1115	sarcoma		ISO	RGD:1346318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:11476	osteoporosis		ISO	RGD:1346318	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12973667
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:1909	melanoma		ISO	RGD:1346318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:2228	thrombocytosis		ISO	RGD:1346318	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thrombocytosis	PMID:12973667|PMID:14508707|PMID:15725249|PMID:22383261|PMID:25741868|PMID:26335786|PMID:28492532|PMID:28914269
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:3086	gingival overgrowth		ISO	RGD:1346318	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	PMID:12973667|PMID:14508707|PMID:15725249|PMID:22383261|PMID:25741868|PMID:26335786|PMID:28492532|PMID:28914269
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:3275	thymoma		ISO	RGD:1346318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346318	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:5338	gingival hypertrophy		ISO	RGD:1346318	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12973667|PMID:14508707
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:630	genetic disease		ISO	RGD:1346318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1346318	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20062062|PMID:21743469
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:7427	anthrax disease		IDA		D	RGD:1599126|PMID:17054395	20070117	RGD			
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:9000052	Breech Presentation		ISO	RGD:1346318	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breech presentation	PMID:12973667|PMID:14508707|PMID:15725249|PMID:22383261|PMID:25741868|PMID:26335786|PMID:28492532|PMID:28914269
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346318	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:12973667|PMID:14508707|PMID:15725249|PMID:22383261|PMID:25741868|PMID:26335786|PMID:28492532|PMID:28914269
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1346318	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:12973667|PMID:14508707|PMID:15725249|PMID:22383261|PMID:25741868|PMID:26335786|PMID:28492532|PMID:28914269
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1346318	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:9006081	Osteolysis		ISO	RGD:1346318	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12973667
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:9006836	Contracture		ISO	RGD:1346318	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12973667|PMID:14508707
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1346318	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12973667|PMID:14508707|PMID:15725249|PMID:22383261|PMID:25741868|PMID:26335786|PMID:28492532|PMID:28914269
1561294	Antxr2	ANTXR cell adhesion molecule 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561296	Zxdc	ZXD family zinc finger C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561296	Zxdc	ZXD family zinc finger C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561296	Zxdc	ZXD family zinc finger C	gene	DOID:10534	stomach cancer		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
1561296	Zxdc	ZXD family zinc finger C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561296	Zxdc	ZXD family zinc finger C	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1607003	D	RGD:11554173	20250902	CTD		CTD Direct Evidence: marker/mechanism	PMID:38154557
1561296	Zxdc	ZXD family zinc finger C	gene	DOID:3070	high grade glioma		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561296	Zxdc	ZXD family zinc finger C	gene	DOID:4362	cervical cancer		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561296	Zxdc	ZXD family zinc finger C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561296	Zxdc	ZXD family zinc finger C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561296	Zxdc	ZXD family zinc finger C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561296	Zxdc	ZXD family zinc finger C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561296	Zxdc	ZXD family zinc finger C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561298	Dcp1a	decapping mRNA 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1350050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561298	Dcp1a	decapping mRNA 1A	gene	DOID:3070	high grade glioma		ISO	RGD:1350050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561298	Dcp1a	decapping mRNA 1A	gene	DOID:3275	thymoma		ISO	RGD:1350050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561298	Dcp1a	decapping mRNA 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1350050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561298	Dcp1a	decapping mRNA 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561298	Dcp1a	decapping mRNA 1A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350050	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561298	Dcp1a	decapping mRNA 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561298	Dcp1a	decapping mRNA 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561300	Nyx	nyctalopin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561300	Nyx	nyctalopin	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1350886	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	
1561300	Nyx	nyctalopin	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1350886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:25307992|PMID:28492532|PMID:31456290
1561300	Nyx	nyctalopin	gene	DOID:0110867	congenital stationary night blindness 1C		ISO	RGD:1350886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness 1C	PMID:25741868
1561300	Nyx	nyctalopin	gene	DOID:0110870	congenital stationary night blindness 1A		ISO	RGD:1350886	D	RGD:7240710	20130221	OMIM			
1561300	Nyx	nyctalopin	gene	DOID:0110870	congenital stationary night blindness 1A		ISO	RGD:1350886	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness 1A | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A | ClinVar Annotator: match by term: NYX-related condition	PMID:11062472|PMID:14507859|PMID:17392683|PMID:23406521|PMID:25741868|PMID:28041643|PMID:28492532
1561300	Nyx	nyctalopin	gene	DOID:0110870	congenital stationary night blindness 1A		ISS	RGD:1557199	D	RGD:13592920	20230718	MouseDO		OMIM:310500	
1561300	Nyx	nyctalopin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1350886	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868
1561300	Nyx	nyctalopin	gene	DOID:1909	melanoma		ISO	RGD:1350886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561300	Nyx	nyctalopin	gene	DOID:5679	retinal disease		ISO	RGD:1350886	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
1561300	Nyx	nyctalopin	gene	DOID:630	genetic disease		ISO	RGD:1350886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1561300	Nyx	nyctalopin	gene	DOID:8499	night blindness		ISO	RGD:1350886	D	RGD:7240710	20240214	OMIM			
1561300	Nyx	nyctalopin	gene	DOID:8499	night blindness	susceptibility	ISO	RGD:1350886	D	RGD:1601021|PMID:11062471	20070403	RGD		Congenital stationary night blindness type1A, OMIM:310500;DNA:mutations	
1561300	Nyx	nyctalopin	gene	DOID:8501	fundus dystrophy		ISO	RGD:1350886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11062472|PMID:12552565|PMID:25741868|PMID:28492532|PMID:3098017
1561300	Nyx	nyctalopin	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1350886	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	
1561303	Cfap73	cilia and flagella associated protein 73	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2311614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561303	Cfap73	cilia and flagella associated protein 73	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2311614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561303	Cfap73	cilia and flagella associated protein 73	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2311614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561304	Esyt3	extended synaptotagmin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561304	Esyt3	extended synaptotagmin 3	gene	DOID:1324	lung cancer		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561304	Esyt3	extended synaptotagmin 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561304	Esyt3	extended synaptotagmin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561304	Esyt3	extended synaptotagmin 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561304	Esyt3	extended synaptotagmin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561304	Esyt3	extended synaptotagmin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561304	Esyt3	extended synaptotagmin 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:1343572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9	PMID:25741868
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1343572	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1343572	D	RGD:1601446|PMID:12118251	20090724	RGD		DNA:nonsense mutation	
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1343572	D	RGD:1601468|PMID:7581368	20070423	RGD		DNA:polymorphism:exon:p.D905Y (human)	
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1343572	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INSULIN RESISTANCE, SUSCEPTIBILITY TO	PMID:25741868
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9351	diabetes mellitus		ISO	RGD:1343572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:25741868|PMID:28492532
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343572	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343572	D	RGD:2311531|PMID:9726244	20090722	RGD		DNA:missense mutations, polymorphisms:CDS, 3' UTR:p.R883S, p.D905Y (human)	
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343572	D	RGD:2311532|PMID:10389856	20090722	RGD		DNA:missense mutation::p.D905Y (human)	
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343572	D	RGD:2311560|PMID:11793847	20090724	RGD		DNA:missense mutation:cds:p.D905Y (human)	
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343572	D	RGD:7240710	20190315	OMIM			
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343572	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INSULIN RESISTANCE, SEVERE, DIGENIC | ClinVar Annotator: match by term: PPP1R3A-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:12118251|PMID:25741868
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9352	type 2 diabetes mellitus		ISS	RGD:1558275	D	RGD:13592920	20230718	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1343572	D	RGD:2311515|PMID:9653600	20090722	RGD		DNA:missense mutation: :p.D905Y (human)	
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1343572	D	RGD:2311552|PMID:10868947	20090723	RGD		DNA:missense mutation: :p.D905Y (human)	
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9352	type 2 diabetes mellitus	onset	ISO	RGD:1343572	D	RGD:2311596|PMID:12831406	20150824	RGD		DNA:insertion/deletion	
1561312	Ppp1r3a	protein phosphatase 1, regulatory subunit 3A	gene	DOID:9993	hypoglycemia		ISO	RGD:1343572	D	RGD:1601469|PMID:9814479	20110712	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human)	
1561319	Pcbp1	poly(rC) binding protein 1	gene	DOID:0080600	COVID-19		HEP		D	RGD:32716422|PMID:32377375	20200707	RGD		mRNA:decreased expression:CD8+ T cells (human)	
1561319	Pcbp1	poly(rC) binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:1353218	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:41415500
1561319	Pcbp1	poly(rC) binding protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353218	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:41415500
1561319	Pcbp1	poly(rC) binding protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353218	D	RGD:11554173	20230404	CTD		CTD Direct Evidence: marker/mechanism	PMID:35639300
1561320	Prrg1	proline rich and Gla domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561320	Prrg1	proline rich and Gla domain 1	gene	DOID:1909	melanoma		ISO	RGD:1350141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561320	Prrg1	proline rich and Gla domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1350141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561320	Prrg1	proline rich and Gla domain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561320	Prrg1	proline rich and Gla domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561324	Kpna5	karyopherin subunit alpha 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561324	Kpna5	karyopherin subunit alpha 5	gene	DOID:10534	stomach cancer		ISO	RGD:1343568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561324	Kpna5	karyopherin subunit alpha 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561324	Kpna5	karyopherin subunit alpha 5	gene	DOID:1115	sarcoma		ISO	RGD:1343568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561324	Kpna5	karyopherin subunit alpha 5	gene	DOID:1909	melanoma		ISO	RGD:1343568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561324	Kpna5	karyopherin subunit alpha 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561324	Kpna5	karyopherin subunit alpha 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561324	Kpna5	karyopherin subunit alpha 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561326	Kctd19	potassium channel tetramerization domain containing 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561326	Kctd19	potassium channel tetramerization domain containing 19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561326	Kctd19	potassium channel tetramerization domain containing 19	gene	DOID:1115	sarcoma		ISO	RGD:1349783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561326	Kctd19	potassium channel tetramerization domain containing 19	gene	DOID:1909	melanoma		ISO	RGD:1349783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561326	Kctd19	potassium channel tetramerization domain containing 19	gene	DOID:3275	thymoma		ISO	RGD:1349783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561326	Kctd19	potassium channel tetramerization domain containing 19	gene	DOID:4362	cervical cancer		ISO	RGD:1349783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561326	Kctd19	potassium channel tetramerization domain containing 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1349783	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561326	Kctd19	potassium channel tetramerization domain containing 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561326	Kctd19	potassium channel tetramerization domain containing 19	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:1349783	D	RGD:8554872	20160419	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:26350515
1561326	Kctd19	potassium channel tetramerization domain containing 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561338	Slc6a16	solute carrier family 6, member 16	gene	DOID:10534	stomach cancer		ISO	RGD:1353315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561338	Slc6a16	solute carrier family 6, member 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1353315	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561338	Slc6a16	solute carrier family 6, member 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561338	Slc6a16	solute carrier family 6, member 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561338	Slc6a16	solute carrier family 6, member 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561338	Slc6a16	solute carrier family 6, member 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1353315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561342	Slc35e1	solute carrier family 35, member E1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1319908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1561342	Slc35e1	solute carrier family 35, member E1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561342	Slc35e1	solute carrier family 35, member E1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1319908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1561343	Tldc2	TBC/LysM-associated domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1348581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561343	Tldc2	TBC/LysM-associated domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348581	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561343	Tldc2	TBC/LysM-associated domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561343	Tldc2	TBC/LysM-associated domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561343	Tldc2	TBC/LysM-associated domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561345	Rpl39l1	ribosomal protein L39 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561345	Rpl39l1	ribosomal protein L39 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561347	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561347	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1350526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561347	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1350526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561347	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:1324	lung cancer		ISO	RGD:1350526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561347	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:14250	Down syndrome		ISO	RGD:1350526	D	RGD:11039402|PMID:16847874	20160302	RGD		protein:increased expression:amniotic fluid (human)	
1561347	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350526	D	RGD:11039405|PMID:9865741	20160302	RGD		mRNA:decreased expression:colon mucosa (human)	
1561347	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:3275	thymoma		ISO	RGD:1350526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561347	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561347	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350526	D	RGD:11039407|PMID:21082031	20160303	RGD		mRNA:altered expression:kidney (human)	
1561347	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561347	Srsf4	serine and arginine rich splicing factor 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350526	D	RGD:11039059|PMID:22722453	20160301	RGD		mRNA:decreased expression: (human)	
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:0081326	oxoglutarate dehydrogenase deficiency		ISO	RGD:1353072	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:0081326	oxoglutarate dehydrogenase deficiency		ISO	RGD:1353072	D	RGD:7240710	20130221	OMIM			
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:0081326	oxoglutarate dehydrogenase deficiency		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: OGDH-related disorder | ClinVar Annotator: match by term: OXOGLUTARATE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: Oxoglutaricaciduria	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32383294|PMID:36520152|PMID:40794449|PMID:9536098
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:1115	sarcoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:3275	thymoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:5041	esophageal cancer		ISO	RGD:1353072	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1353072	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1561359	Ogdh	oxoglutarate dehydrogenase	gene	DOID:9256	colorectal cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1561361	Slitrk2	SLIT and NTRK-like family, member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561361	Slitrk2	SLIT and NTRK-like family, member 2	gene	DOID:0060929	non-syndromic X-linked intellectual developmental disorder 111		ISO	RGD:1344547	D	RGD:7240710	20230505	OMIM			
1561361	Slitrk2	SLIT and NTRK-like family, member 2	gene	DOID:0060929	non-syndromic X-linked intellectual developmental disorder 111		ISO	RGD:1344547	D	RGD:8554872	20250423	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 111 | ClinVar Annotator: match by term: SLITRK2-related condition	PMID:25741868|PMID:28492532|PMID:35840571
1561361	Slitrk2	SLIT and NTRK-like family, member 2	gene	DOID:0060929	non-syndromic X-linked intellectual developmental disorder 111		ISS	RGD:1557207	D	RGD:13592920	20240118	MouseDO		OMIM:301107	
1561361	Slitrk2	SLIT and NTRK-like family, member 2	gene	DOID:0070613	familial renal glucosuria		ISO	RGD:1344547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial renal glucosuria	PMID:25741868|PMID:35840571
1561361	Slitrk2	SLIT and NTRK-like family, member 2	gene	DOID:1059	intellectual disability		ISO	RGD:1344547	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1561361	Slitrk2	SLIT and NTRK-like family, member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344547	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561361	Slitrk2	SLIT and NTRK-like family, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561361	Slitrk2	SLIT and NTRK-like family, member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561363	Ift56	intraflagellar transport 56	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561363	Ift56	intraflagellar transport 56	gene	DOID:10908	hydrocephalus		ISO	RGD:1605330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
1561363	Ift56	intraflagellar transport 56	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561363	Ift56	intraflagellar transport 56	gene	DOID:1115	sarcoma		ISO	RGD:1605330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561363	Ift56	intraflagellar transport 56	gene	DOID:1324	lung cancer		ISO	RGD:1605330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561363	Ift56	intraflagellar transport 56	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561363	Ift56	intraflagellar transport 56	gene	DOID:4362	cervical cancer		ISO	RGD:1605330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561363	Ift56	intraflagellar transport 56	gene	DOID:5041	esophageal cancer		ISO	RGD:1605330	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561363	Ift56	intraflagellar transport 56	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561363	Ift56	intraflagellar transport 56	gene	DOID:9003053	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME		ISO	RGD:1605330	D	RGD:7240710	20211208	OMIM			
1561363	Ift56	intraflagellar transport 56	gene	DOID:9003053	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME		ISO	RGD:1605330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME | ClinVar Annotator: match by term: Biliary, renal, neurologic, and skeletal syndrome | ClinVar Annotator: match by term: IFT56-related condition	PMID:25741868|PMID:28492532
1561363	Ift56	intraflagellar transport 56	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561365	Gata5	GATA binding protein 5	gene	DOID:0050650	familial atrial fibrillation		ISO	RGD:1354270	D	RGD:155260349|PMID:23295592	20221004	RGD		DNA:mutations:cds: c.413A>T(p.Y138F), c.628T>G (p.C210G)(human)	
1561365	Gata5	GATA binding protein 5	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
1561365	Gata5	GATA binding protein 5	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1354270	D	RGD:155260351|PMID:23175127	20221004	RGD		DNA:mutation:cds:c.598T>G (p.W200G)(human)	
1561365	Gata5	GATA binding protein 5	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1354270	D	RGD:155260354|PMID:24638895	20221005	RGD		DNA:mutations:cds:c.46T>G (p.Y16D), c.754A>C ((p.T252P)(human)	
1561365	Gata5	GATA binding protein 5	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1558341	D	RGD:329337340|PMID:22536403	20230427	RGD			
1561365	Gata5	GATA binding protein 5	gene	DOID:0080332	bicuspid aortic valve disease	exacerbates	ISO	RGD:1558341	D	RGD:155260352|PMID:21633169	20221004	RGD			
1561365	Gata5	GATA binding protein 5	gene	DOID:1059	intellectual disability		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
1561365	Gata5	GATA binding protein 5	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1354270	D	RGD:11343485|PMID:26617239	20221004	RGD		DNA:SNPs:intron, exon:rs6061245,rs6587239 (human)	
1561365	Gata5	GATA binding protein 5	gene	DOID:10825	essential hypertension		ISO	RGD:1558341	D	RGD:11343485|PMID:26617239	20221004	RGD			
1561365	Gata5	GATA binding protein 5	gene	DOID:10825	essential hypertension		ISS	RGD:1558341	D	RGD:13592920	20180518	MouseDO		OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014	
1561365	Gata5	GATA binding protein 5	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
1561365	Gata5	GATA binding protein 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1354270	D	RGD:155260333|PMID:25543888	20221003	RGD		DNA:mutation:cds;c.719G>A(p.Gly240Asp)(human)	
1561365	Gata5	GATA binding protein 5	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354270	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:22641149|PMID:28492532
1561365	Gata5	GATA binding protein 5	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1354270	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1561365	Gata5	GATA binding protein 5	gene	DOID:1657	ventricular septal defect		ISO	RGD:1354270	D	RGD:155260356|PMID:22961344	20221005	RGD		DNA:mutation:cds:c.595C>G (p.L199V)(human)	
1561365	Gata5	GATA binding protein 5	gene	DOID:1657	ventricular septal defect		ISO	RGD:1558341	D	RGD:329337340|PMID:22536403	20230427	RGD			
1561365	Gata5	GATA binding protein 5	gene	DOID:419	scleroderma		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scleroderma	PMID:25741868|PMID:28492532
1561365	Gata5	GATA binding protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561365	Gata5	GATA binding protein 5	gene	DOID:62	aortic valve disease		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve disorder	PMID:25741868|PMID:28387797|PMID:28492532|PMID:30675029
1561365	Gata5	GATA binding protein 5	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1354270	D	RGD:155260350|PMID:23289003	20221004	RGD		DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human)	
1561365	Gata5	GATA binding protein 5	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:1354270	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Arterial dissection	PMID:28492532
1561365	Gata5	GATA binding protein 5	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868|PMID:28492532
1561365	Gata5	GATA binding protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561365	Gata5	GATA binding protein 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1354270	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19509152
1561365	Gata5	GATA binding protein 5	gene	DOID:9008565	Congenital Heart Defects, Multiple Types		ISO	RGD:1354270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart defects, multiple types	PMID:25741868
1561365	Gata5	GATA binding protein 5	gene	DOID:9009140	Congenital Heart Defects, Multiple Types, 5		ISO	RGD:1354270	D	RGD:7240710	20190612	OMIM			
1561365	Gata5	GATA binding protein 5	gene	DOID:9009140	Congenital Heart Defects, Multiple Types, 5		ISO	RGD:1354270	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 | ClinVar Annotator: match by term: Congenital heart defects, multiple types, 5 | ClinVar Annotator: match by term: GATA5-related condition	PMID:22641149|PMID:22961344|PMID:23031282|PMID:24638895|PMID:25543888|PMID:25741868|PMID:27066509|PMID:28074886|PMID:28180938|PMID:28492532|PMID:33270637
1561365	Gata5	GATA binding protein 5	gene	DOID:9408	acute myocardial infarction	susceptibility	ISO	RGD:1354270	D	RGD:155260335|PMID:33684162	20221003	RGD		DNA:SNPs:promoter:rs80197101, rs77067995 (human)	
1561366	Klhl36	kelch-like family member 36	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561366	Klhl36	kelch-like family member 36	gene	DOID:10534	stomach cancer		ISO	RGD:1350475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561366	Klhl36	kelch-like family member 36	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561366	Klhl36	kelch-like family member 36	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561366	Klhl36	kelch-like family member 36	gene	DOID:5041	esophageal cancer		ISO	RGD:1350475	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561366	Klhl36	kelch-like family member 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561366	Klhl36	kelch-like family member 36	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561367	Anln	anillin, actin binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561367	Anln	anillin, actin binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561367	Anln	anillin, actin binding protein	gene	DOID:0080600	COVID-19		ISO	RGD:1320339	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1561367	Anln	anillin, actin binding protein	gene	DOID:0111133	focal segmental glomerulosclerosis 8		ISO	RGD:1320339	D	RGD:7240710	20170222	OMIM			
1561367	Anln	anillin, actin binding protein	gene	DOID:0111133	focal segmental glomerulosclerosis 8		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANLN-related condition | ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 | ClinVar Annotator: match by term: focal segmental glomerulosclerosis 8	PMID:24676636|PMID:25741868|PMID:26319989|PMID:28106320|PMID:28492532|PMID:29869118|PMID:30406062
1561367	Anln	anillin, actin binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561367	Anln	anillin, actin binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561367	Anln	anillin, actin binding protein	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1320339	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1561367	Anln	anillin, actin binding protein	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1320339	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:28492532
1561367	Anln	anillin, actin binding protein	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1320339	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1561367	Anln	anillin, actin binding protein	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1320339	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: focal segmental glomerulosclerosis	PMID:25741868
1561367	Anln	anillin, actin binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561367	Anln	anillin, actin binding protein	gene	DOID:1909	melanoma		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561367	Anln	anillin, actin binding protein	gene	DOID:3275	thymoma		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561367	Anln	anillin, actin binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561367	Anln	anillin, actin binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561367	Anln	anillin, actin binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1320339	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561367	Anln	anillin, actin binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561367	Anln	anillin, actin binding protein	gene	DOID:630	genetic disease		ISO	RGD:1320339	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28106320
1561367	Anln	anillin, actin binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320339	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1561367	Anln	anillin, actin binding protein	gene	DOID:784	chronic kidney disease		ISO	RGD:1320339	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532
1561367	Anln	anillin, actin binding protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:29869118
1561367	Anln	anillin, actin binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561367	Anln	anillin, actin binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561367	Anln	anillin, actin binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561371	Macroh2a2	macroH2A.2 histone	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561371	Macroh2a2	macroH2A.2 histone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561371	Macroh2a2	macroH2A.2 histone	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561371	Macroh2a2	macroH2A.2 histone	gene	DOID:1909	melanoma		ISO	RGD:1347144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561371	Macroh2a2	macroH2A.2 histone	gene	DOID:3275	thymoma		ISO	RGD:1347144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561371	Macroh2a2	macroH2A.2 histone	gene	DOID:4362	cervical cancer		ISO	RGD:1347144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561371	Macroh2a2	macroH2A.2 histone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561371	Macroh2a2	macroH2A.2 histone	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561371	Macroh2a2	macroH2A.2 histone	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561371	Macroh2a2	macroH2A.2 histone	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561371	Macroh2a2	macroH2A.2 histone	gene	DOID:9256	colorectal cancer		ISO	RGD:1347144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561384	Ccnjl	cyclin J-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561384	Ccnjl	cyclin J-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561384	Ccnjl	cyclin J-like	gene	DOID:1115	sarcoma		ISO	RGD:1606241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561384	Ccnjl	cyclin J-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561384	Ccnjl	cyclin J-like	gene	DOID:630	genetic disease		ISO	RGD:1606241	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1561384	Ccnjl	cyclin J-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561385	Slc9a7	solute carrier family 9 member A7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561385	Slc9a7	solute carrier family 9 member A7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561385	Slc9a7	solute carrier family 9 member A7	gene	DOID:0111844	X-linked intellectual developmental disorder 108		ISO	RGD:1350922	D	RGD:7240710	20190424	OMIM			
1561385	Slc9a7	solute carrier family 9 member A7	gene	DOID:0111844	X-linked intellectual developmental disorder 108		ISO	RGD:1350922	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 | ClinVar Annotator: match by term: SLC9A7-related condition	PMID:25741868|PMID:28492532|PMID:30335141
1561385	Slc9a7	solute carrier family 9 member A7	gene	DOID:10534	stomach cancer		ISO	RGD:1350922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561385	Slc9a7	solute carrier family 9 member A7	gene	DOID:1115	sarcoma		ISO	RGD:1350922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561385	Slc9a7	solute carrier family 9 member A7	gene	DOID:3275	thymoma		ISO	RGD:1350922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561385	Slc9a7	solute carrier family 9 member A7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561385	Slc9a7	solute carrier family 9 member A7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561385	Slc9a7	solute carrier family 9 member A7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561385	Slc9a7	solute carrier family 9 member A7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1561385	Slc9a7	solute carrier family 9 member A7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1561385	Slc9a7	solute carrier family 9 member A7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561385	Slc9a7	solute carrier family 9 member A7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350922	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1345184	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17446348|PMID:19387008|PMID:19620960|PMID:19901108|PMID:20619386|PMID:20619389|PMID:20694012|PMID:20951944|PMID:21828135|PMID:22190897|PMID:22246246|PMID:22733026|PMID:23010802|PMID:23690417|PMID:25178484|PMID:25224413|PMID:25741868|PMID:25952305|PMID:27069254|PMID:28492532|PMID:29296819|PMID:33318624|PMID:33627783|PMID:35583390
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1345184	D	RGD:11038806|PMID:19571318	20160226	RGD		DNA:mutations:cds:	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1345184	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20694012|PMID:22315502|PMID:26457647
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1345184	D	RGD:7240710	20190315	OMIM			
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1345184	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CBL-related disorder | ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia	PMID:17446348|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20126411|PMID:20357823|PMID:20543203|PMID:20555362|PMID:20619386|PMID:20619389|PMID:20622007|PMID:20644105|PMID:20694012|PMID:20880116|PMID:20951944|PMID:21681191|PMID:21828135|PMID:22131879|PMID:22190897|PMID:22246246|PMID:22733026|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24493670|PMID:24728327|PMID:24896186|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25533962|PMID:25741868|PMID:25952305|PMID:26676746|PMID:26956871|PMID:27069254|PMID:27244893|PMID:27391150|PMID:27609087|PMID:27993330|PMID:28414188|PMID:28492532|PMID:29296819|PMID:31057598|PMID:31420671|PMID:31935506|PMID:32533790|PMID:33057194|PMID:33318624|PMID:33627783|PMID:33897294|PMID:35101336|PMID:35159106|PMID:35236052|PMID:35583390|PMID:35982159|PMID:37236975|PMID:38430549|PMID:38958063
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1345184	D	RGD:11038804|PMID:22315494	20160226	RGD		DNA:mutations:cds:	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1345184	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myeloproliferative disorder	PMID:17446348|PMID:19387008|PMID:19620960|PMID:19901108|PMID:20619386|PMID:20619389|PMID:20694012|PMID:20951944|PMID:21828135|PMID:22190897|PMID:22246246|PMID:22733026|PMID:23010802|PMID:23690417|PMID:25178484|PMID:25224413|PMID:25741868|PMID:25952305|PMID:27069254|PMID:28492532|PMID:29296819|PMID:33318624|PMID:33627783|PMID:35583390
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0070004	myeloid neoplasm	disease_progression	ISO	RGD:1345184	D	RGD:11038808|PMID:19387008	20160226	RGD		DNA:mutations:exons:	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0070004	myeloid neoplasm	disease_progression	ISO	RGD:1558608	D	RGD:11038798|PMID:20951944	20160225	RGD			
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0080690	RASopathy		ISO	RGD:1345184	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26847329|PMID:27069254|PMID:27784745|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31970404|PMID:32933826|PMID:9536098
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0080690	RASopathy		ISO	RGD:1345184	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:14640702|PMID:15581361|PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22266821|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26676746|PMID:26847329|PMID:27069254|PMID:27609087|PMID:27784745|PMID:27854218|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33550024|PMID:33627783|PMID:9536098
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0080690	RASopathy		ISO	RGD:1345184	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:14640702|PMID:15581361|PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22190897|PMID:22246246|PMID:22266821|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26676746|PMID:26847329|PMID:27069254|PMID:27609087|PMID:27784745|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33550024|PMID:33627783|PMID:9536098
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0080690	RASopathy		ISO	RGD:1345184	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:14640702|PMID:15581361|PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19276253|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20555362|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20880116|PMID:20951944|PMID:20955399|PMID:21681191|PMID:21828135|PMID:21901340|PMID:22131879|PMID:22190897|PMID:22246246|PMID:22266821|PMID:22315494|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26676746|PMID:26847329|PMID:27069254|PMID:27609087|PMID:27784745|PMID:27941868|PMID:28343148|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33084842|PMID:33318624|PMID:33550024|PMID:33627783|PMID:33897294|PMID:34918830|PMID:35236052|PMID:9536098
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0080690	RASopathy		ISO	RGD:1345184	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:14640702|PMID:15581361|PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19276253|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20555362|PMID:20595524|PMID:20619386|PMID:20619389|PMID:20644105|PMID:20694012|PMID:20880116|PMID:20951944|PMID:20955399|PMID:21681191|PMID:21828135|PMID:21901340|PMID:22131879|PMID:22190897|PMID:22246246|PMID:22266821|PMID:22315494|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26457648|PMID:26580448|PMID:26676746|PMID:26847329|PMID:27069254|PMID:27609087|PMID:27784745|PMID:27941868|PMID:28343148|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33084842|PMID:33318624|PMID:33550024|PMID:33627783|PMID:33897294|PMID:34918830|PMID:35236052|PMID:38613168|PMID:9536098
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0080690	RASopathy		ISO	RGD:1345184	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies	PMID:10684856|PMID:11149930|PMID:14640702|PMID:15581361|PMID:16199547|PMID:17446348|PMID:17576681|PMID:19276253|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20357823|PMID:20543203|PMID:20555362|PMID:20595524|PMID:20619386|PMID:20619389|PMID:20622007|PMID:20644105|PMID:20694012|PMID:20880116|PMID:20951944|PMID:20955399|PMID:21681191|PMID:21828135|PMID:22131879|PMID:22190897|PMID:22246246|PMID:22266821|PMID:22315494|PMID:22733026|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24896186|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25741868|PMID:25939664|PMID:25952305|PMID:26676746|PMID:26956871|PMID:27069254|PMID:27391150|PMID:27609087|PMID:27993330|PMID:28414188|PMID:28492532|PMID:28589114|PMID:29296819|PMID:31057598|PMID:31420671|PMID:32533790|PMID:32721511|PMID:33057194|PMID:33084842|PMID:33318624|PMID:33337535|PMID:33375775|PMID:33627783|PMID:33850299|PMID:33897294|PMID:34918830|PMID:35236052|PMID:35352813|PMID:35583390|PMID:35982159|PMID:36123612|PMID:37236975|PMID:38430549|PMID:38613168|PMID:38958063|PMID:9174060|PMID:9234717|PMID:9536098
1561386	Cbl	Cbl proto-oncogene	gene	DOID:0081341	congenital myopathy 5		ISO	RGD:1345184	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY	PMID:19571318|PMID:20543203|PMID:20619386|PMID:20694012|PMID:23696637|PMID:24803665|PMID:25283271|PMID:25358541|PMID:25741868|PMID:25952305|PMID:28414188|PMID:28492532|PMID:32933826
1561386	Cbl	Cbl proto-oncogene	gene	DOID:10534	stomach cancer		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:1059	intellectual disability		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:20694012|PMID:24463883|PMID:25358541|PMID:25741868|PMID:25952305|PMID:28492532|PMID:28589114
1561386	Cbl	Cbl proto-oncogene	gene	DOID:1059	intellectual disability		ISO	RGD:1345184	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:28492532
1561386	Cbl	Cbl proto-oncogene	gene	DOID:10907	microcephaly		ISO	RGD:1345184	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1561386	Cbl	Cbl proto-oncogene	gene	DOID:1115	sarcoma		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:11383	cryptorchidism		ISO	RGD:1345184	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20694012
1561386	Cbl	Cbl proto-oncogene	gene	DOID:12336	male infertility		ISO	RGD:1345184	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:16301331
1561386	Cbl	Cbl proto-oncogene	gene	DOID:12849	autistic disorder		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:20619386|PMID:25178484|PMID:25741868|PMID:26676746|PMID:28492532
1561386	Cbl	Cbl proto-oncogene	gene	DOID:1324	lung cancer		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:1588	thrombocytopenia		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:19387008|PMID:19620960|PMID:19901108|PMID:20619386|PMID:20694012|PMID:20951944|PMID:21828135|PMID:22733026|PMID:23010802|PMID:23690417|PMID:24896186|PMID:25224413|PMID:25741868|PMID:26676746|PMID:26956871|PMID:27069254|PMID:27391150|PMID:27993330|PMID:28492532|PMID:29296819|PMID:31420671|PMID:38430549
1561386	Cbl	Cbl proto-oncogene	gene	DOID:1682	congenital heart disease		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:1826	epilepsy		ISO	RGD:1345184	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1561386	Cbl	Cbl proto-oncogene	gene	DOID:1909	melanoma		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:2155	malignant ovarian germ cell neoplasm		ISO	RGD:1345184	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant germ cell tumor of ovary	PMID:16199547|PMID:19571318|PMID:20694012|PMID:20955399|PMID:21901340|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32637631|PMID:33057194|PMID:34026204|PMID:34301788|PMID:35982159|PMID:37554039|PMID:38008000
1561386	Cbl	Cbl proto-oncogene	gene	DOID:224	transient cerebral ischemia	treatment	IDA		D	RGD:4108486|PMID:18773943	20170106	RGD			
1561386	Cbl	Cbl proto-oncogene	gene	DOID:2615	papilloma		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Papilloma	PMID:20694012|PMID:25741868|PMID:28492532
1561386	Cbl	Cbl proto-oncogene	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1345184	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:17446348|PMID:19387008|PMID:19620960|PMID:19901108|PMID:20619386|PMID:20619389|PMID:20694012|PMID:20951944|PMID:21828135|PMID:22190897|PMID:22246246|PMID:22733026|PMID:23010802|PMID:23690417|PMID:25178484|PMID:25224413|PMID:25741868|PMID:25952305|PMID:27069254|PMID:28492532|PMID:29296819|PMID:33318624|PMID:33372952|PMID:33627783|PMID:35583390
1561386	Cbl	Cbl proto-oncogene	gene	DOID:3275	thymoma		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:3304	germinoma		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germinoma	PMID:24896186|PMID:25741868|PMID:26956871|PMID:27993330|PMID:28492532|PMID:32721511
1561386	Cbl	Cbl proto-oncogene	gene	DOID:3347	osteosarcoma		ISO	RGD:1345184	D	RGD:126925238|PMID:22623369	20210518	RGD		protein:decreased expression:bone	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:3490	Noonan syndrome		ISO	RGD:1345184	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Noonan's syndrome	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:3827	congenital diaphragmatic hernia		IEP		D	RGD:11038813|PMID:23143077	20160226	RGD		mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium:	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1345184	D	RGD:11576301|PMID:20126411	20170106	RGD		DNA:missense mutations, loss of heterozygosity:multiple (human)	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:4195	hyperglycemia		IEP		D	RGD:11576321|PMID:16644676	20170109	RGD		mRNA:increased expression:islet of Langerhans (rat)	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:4362	cervical cancer		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:4439	central nervous system germ cell tumor		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central nervous system germ cell tumor	PMID:19387008|PMID:19620960|PMID:19901108|PMID:20619386|PMID:20694012|PMID:20951944|PMID:21828135|PMID:22733026|PMID:23010802|PMID:23690417|PMID:24896186|PMID:25224413|PMID:25741868|PMID:26676746|PMID:26956871|PMID:27069254|PMID:27391150|PMID:27993330|PMID:28492532|PMID:29296819|PMID:31420671|PMID:38430549
1561386	Cbl	Cbl proto-oncogene	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:1345184	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:19571318|PMID:19620960|PMID:20357823|PMID:20543203|PMID:20622007|PMID:20694012|PMID:25283271|PMID:25741868|PMID:25952305|PMID:27609087|PMID:27993330|PMID:28414188|PMID:28492532
1561386	Cbl	Cbl proto-oncogene	gene	DOID:5041	esophageal cancer		ISO	RGD:1345184	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:540	strabismus		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:20619386|PMID:25178484|PMID:25741868|PMID:26676746|PMID:28492532
1561386	Cbl	Cbl proto-oncogene	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:6000	congestive heart failure		ISO	RGD:1345184	D	RGD:11251947|PMID:24583314	20170106	RGD		protein:increased expression:left ventricle myocardium, muscle cell (human)	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:6000	congestive heart failure	disease_progression	ISO	RGD:1345184	D	RGD:155630627|PMID:33779075	20221026	RGD		DNA:mutations: :	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:614	lymphopenia	onset	ISO	RGD:1558608	D	RGD:11038797|PMID:20404156	20160225	RGD			
1561386	Cbl	Cbl proto-oncogene	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:630	genetic disease		ISO	RGD:1345184	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1345184	D	RGD:11536137|PMID:26474280	20210518	RGD			
1561386	Cbl	Cbl proto-oncogene	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:24033266|PMID:25952305
1561386	Cbl	Cbl proto-oncogene	gene	DOID:865	vasculitis		ISO	RGD:1345184	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20694012
1561386	Cbl	Cbl proto-oncogene	gene	DOID:8927	learning disability		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Learning disability	PMID:25741868
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9000053	Headache		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1345184	D	RGD:126925223|PMID:31611438	20210517	RGD		associated with stomach carcinoma;protein:increased expression:stomach	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1345184	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9001240	Peripheral Nerve Injuries		IEP		D	RGD:126925240|PMID:30021515	20210518	RGD		mRNA:increased expression:spinal cord	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9001510	Funnel Chest		ISO	RGD:1345184	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:19387008|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20619386|PMID:20694012|PMID:20951944|PMID:21828135|PMID:22733026|PMID:23010802|PMID:23690417|PMID:23696637|PMID:25224413|PMID:25283271|PMID:25741868|PMID:25952305|PMID:27069254|PMID:28343148|PMID:28414188|PMID:28492532|PMID:29296819|PMID:33057194|PMID:34358384
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1345184	D	RGD:11038803|PMID:17804547	20160226	RGD		mRNA,protein:increased expression:CD5+ B cell:	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	severity	ISO	RGD:1345184	D	RGD:11038803|PMID:17804547	20160226	RGD		DNA:hypophosphorylation:CD5+ B cell:	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9002457	Experimental Arthritis	treatment	IDA		D	RGD:2306289|PMID:16984225	20170109	RGD			
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9002720	Splenomegaly		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:19387008|PMID:19620960|PMID:19901108|PMID:20619386|PMID:20694012|PMID:20951944|PMID:21828135|PMID:22733026|PMID:23010802|PMID:23690417|PMID:24896186|PMID:25224413|PMID:25741868|PMID:26676746|PMID:26956871|PMID:27069254|PMID:27391150|PMID:27993330|PMID:28492532|PMID:29296819|PMID:31420671|PMID:38430549
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9002854	Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia		ISO	RGD:1345184	D	RGD:7240710	20130221	OMIM			
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9002854	Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia		ISO	RGD:1345184	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: CBL-related condition | ClinVar Annotator: match by term: NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	PMID:16199547|PMID:17446348|PMID:17576681|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20357823|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20619389|PMID:20622007|PMID:20694012|PMID:20951944|PMID:21828135|PMID:22190897|PMID:22246246|PMID:22733026|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:24896186|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25741868|PMID:25939664|PMID:25952305|PMID:26457648|PMID:26580448|PMID:26676746|PMID:26847329|PMID:26956871|PMID:27069254|PMID:27391150|PMID:27609087|PMID:27784745|PMID:27941868|PMID:27993330|PMID:28414188|PMID:28492532|PMID:28589114|PMID:29296819|PMID:31057598|PMID:31101757|PMID:31420671|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33057194|PMID:33318624|PMID:33337535|PMID:33627783|PMID:35583390|PMID:35982159|PMID:37216690|PMID:37236975|PMID:38430549|PMID:38958063|PMID:9536098
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9003091	Noonan Like Syndrome		ISO	RGD:1345184	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Noonan-like syndrome disorder	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:1345184	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	PMID:20555362|PMID:20644105|PMID:20880116|PMID:21681191|PMID:22131879|PMID:22733026|PMID:23823657|PMID:25741868|PMID:28492532|PMID:33897294|PMID:35236052
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9003507	Premature Birth		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9004441	Experimental Leukemia	treatment	ISO	RGD:1558608	D	RGD:11038805|PMID:20890046	20160226	RGD			
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1345184	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:17446348|PMID:19387008|PMID:19620960|PMID:19901108|PMID:20619386|PMID:20619389|PMID:20694012|PMID:20951944|PMID:21828135|PMID:22190897|PMID:22246246|PMID:22733026|PMID:23010802|PMID:23690417|PMID:25178484|PMID:25224413|PMID:25741868|PMID:25952305|PMID:27069254|PMID:28492532|PMID:29296819|PMID:33318624|PMID:33627783|PMID:35583390
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:19620960|PMID:20619386|PMID:20644105|PMID:24033266|PMID:24458550|PMID:25358541|PMID:28492532
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:20619386|PMID:24463883|PMID:25178484|PMID:25741868|PMID:26676746|PMID:28492532
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345184	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:20619386|PMID:25178484|PMID:25741868|PMID:26676746|PMID:28492532
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345184	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:19571318|PMID:20357823|PMID:20543203|PMID:20619386|PMID:20622007|PMID:20694012|PMID:23696637|PMID:24803665|PMID:25178484|PMID:25283271|PMID:25358541|PMID:25741868|PMID:25952305|PMID:26676746|PMID:27993330|PMID:28414188|PMID:28492532|PMID:32933826
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9005616	Micrognathism		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9006182	Carotid Artery Injuries		IEP		D	RGD:11038825|PMID:18663086	20160229	RGD		protein:hyperphosphorylation:tyrosine:	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9006257	Growth Disorders		ISO	RGD:1345184	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20694012
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9006532	Hematologic Neoplasms		ISO	RGD:1345184	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hematological neoplasm	PMID:19571318|PMID:20543203|PMID:20619386|PMID:20694012|PMID:23696637|PMID:24803665|PMID:25283271|PMID:25358541|PMID:25741868|PMID:25952305|PMID:28414188|PMID:28492532|PMID:32933826
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345184	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:19387008|PMID:19620960|PMID:19901108|PMID:20951944|PMID:21828135|PMID:22733026|PMID:23690417|PMID:24033266|PMID:24728327|PMID:25224413|PMID:25741868|PMID:27069254|PMID:28492532|PMID:28957739|PMID:29296819
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer	PMID:25741868
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9007661	Dwarfism		ISO	RGD:1345184	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9007838	Myocardial Reperfusion Injury	severity	ISO	RGD:1558608	D	RGD:11251947|PMID:24583314	20170106	RGD			
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345184	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20694012
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345184	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20619386|PMID:25178484|PMID:25741868|PMID:26676746|PMID:28492532
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9009338	early-onset epilepsy		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Early-onset epilepsy	PMID:19387008|PMID:28492532
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345184	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1345184	D	RGD:11038796|PMID:22131879	20160225	RGD		associated with Myelodysplastic Syndromes;DNA:mutations:exons:	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1345184	D	RGD:126925222|PMID:30029779	20210517	RGD			
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9538	multiple myeloma		ISO	RGD:1345184	D	RGD:11038794|PMID:23948411	20160225	RGD		mRNA:decreased expression:mononuclear cell:	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:962	neurofibroma		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: neurofibromas	PMID:20694012|PMID:25741868|PMID:28492532
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9744	type 1 diabetes mellitus		IEP		D	RGD:1598972|PMID:17082646	20170109	RGD		mRNA:decreased expression:pancreatic lymph node, mast cell (rat)	
1561386	Cbl	Cbl proto-oncogene	gene	DOID:9970	obesity		ISO	RGD:1345184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:0060824	syndromic X-linked intellectual disability Raymond type		ISO	RGD:1348132	D	RGD:7240710	20130221	OMIM			
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:0060824	syndromic X-linked intellectual disability Raymond type		ISO	RGD:1348132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type	PMID:16199547|PMID:17436253|PMID:17576681|PMID:20848651|PMID:22796527|PMID:24357419|PMID:24811172|PMID:25649377|PMID:25741868|PMID:26633542|PMID:28492532|PMID:28687527|PMID:29681091|PMID:36416207|PMID:9536098
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:0060824	syndromic X-linked intellectual disability Raymond type		ISS	RGD:1556934	D	RGD:13592920	20230718	MouseDO		OMIM:300799	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:1059	intellectual disability		ISO	RGD:1348132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:17436253|PMID:24811172|PMID:25741868|PMID:28492532|PMID:29681091
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:3070	high grade glioma		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:540	strabismus		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:630	genetic disease		ISO	RGD:1348132	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24357419|PMID:25741868|PMID:28492532
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:9003132	Sialorrhea		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:9003703	Coxa Valga		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348132	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:9007573	Flatfoot		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:9008214	Genu Valgum		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561389	Zdhhc9	zDHHC palmitoyltransferase 9	gene	DOID:9840	esotropia		ISO	RGD:1348132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
1561390	Lrrc73	leucine rich repeat containing 73	gene	DOID:4362	cervical cancer		ISO	RGD:1346466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561390	Lrrc73	leucine rich repeat containing 73	gene	DOID:6039	uveal melanoma		ISO	RGD:1346466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1561390	Lrrc73	leucine rich repeat containing 73	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561394	Map3k20	mitogen-activated protein kinase kinase kinase 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561394	Map3k20	mitogen-activated protein kinase kinase kinase 20	gene	DOID:0090020	split hand-foot malformation		ISS	RGD:1616796	D	RGD:13592920	20180518	MouseDO			
1561394	Map3k20	mitogen-activated protein kinase kinase kinase 20	gene	DOID:0111221	centronuclear myopathy 6 with fiber-type disproportion		ISO	RGD:1601997	D	RGD:7240710	20190315	OMIM			
1561394	Map3k20	mitogen-activated protein kinase kinase kinase 20	gene	DOID:0111221	centronuclear myopathy 6 with fiber-type disproportion		ISO	RGD:1601997	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MAP3K20-related condition | ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION | ClinVar Annotator: match by term: Myopathy, centronuclear, 6, with fiber-type disproportion	PMID:25741868|PMID:27816943|PMID:28492532
1561394	Map3k20	mitogen-activated protein kinase kinase kinase 20	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561394	Map3k20	mitogen-activated protein kinase kinase kinase 20	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561394	Map3k20	mitogen-activated protein kinase kinase kinase 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561394	Map3k20	mitogen-activated protein kinase kinase kinase 20	gene	DOID:630	genetic disease		ISO	RGD:1601997	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1561394	Map3k20	mitogen-activated protein kinase kinase kinase 20	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561394	Map3k20	mitogen-activated protein kinase kinase kinase 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561394	Map3k20	mitogen-activated protein kinase kinase kinase 20	gene	DOID:9008338	Split-Foot Malformation with Mesoaxial Polydactyly		ISO	RGD:1601997	D	RGD:7240710	20190315	OMIM			
1561394	Map3k20	mitogen-activated protein kinase kinase kinase 20	gene	DOID:9008338	Split-Foot Malformation with Mesoaxial Polydactyly		ISO	RGD:1601997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly	PMID:25741868
1561398	Defal1	defensin alpha-like 1	gene	DOID:9002928	Colonic Neoplasms		EXP		D	RGD:11554173	20180130	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
1561402	Samd12	sterile alpha motif domain containing 12	gene	DOID:0111690	familial adult myoclonic epilepsy 1		ISO	RGD:1344782	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561402	Samd12	sterile alpha motif domain containing 12	gene	DOID:0111690	familial adult myoclonic epilepsy 1		ISO	RGD:1344782	D	RGD:7240710	20190315	OMIM			
1561402	Samd12	sterile alpha motif domain containing 12	gene	DOID:0111690	familial adult myoclonic epilepsy 1		ISO	RGD:1344782	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1	PMID:25741868
1561402	Samd12	sterile alpha motif domain containing 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561402	Samd12	sterile alpha motif domain containing 12	gene	DOID:1324	lung cancer		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1561402	Samd12	sterile alpha motif domain containing 12	gene	DOID:1909	melanoma		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561402	Samd12	sterile alpha motif domain containing 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561402	Samd12	sterile alpha motif domain containing 12	gene	DOID:4362	cervical cancer		ISO	RGD:1344782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561402	Samd12	sterile alpha motif domain containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561402	Samd12	sterile alpha motif domain containing 12	gene	DOID:630	genetic disease		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1561402	Samd12	sterile alpha motif domain containing 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561402	Samd12	sterile alpha motif domain containing 12	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1344782	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29507423
1561402	Samd12	sterile alpha motif domain containing 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561403	Klk1c10	kallikrein 1-related peptidase C10	gene	DOID:10289	prostate malignant phyllodes tumor		ISO	RGD:1343198	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: marker/mechanism	PMID:22360509
1561403	Klk1c10	kallikrein 1-related peptidase C10	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:1343198	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: marker/mechanism	PMID:21128595
1561403	Klk1c10	kallikrein 1-related peptidase C10	gene	DOID:1324	lung cancer		ISO	RGD:1343198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561403	Klk1c10	kallikrein 1-related peptidase C10	gene	DOID:1612	breast cancer		ISO	RGD:1343198	D	RGD:9068941	20230727	RGD		protein:increased expression:serum:in patients with breast cancer versus benign breast disease (p=0.025)	PMID:10069662|REF_RGD_ID:2301715
1561403	Klk1c10	kallikrein 1-related peptidase C10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561403	Klk1c10	kallikrein 1-related peptidase C10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561403	Klk1c10	kallikrein 1-related peptidase C10	gene	DOID:9000918	Disease Progression		ISO	RGD:1343198	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: marker/mechanism	PMID:12644816
1561403	Klk1c10	kallikrein 1-related peptidase C10	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1343198	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: marker/mechanism	PMID:12644816|PMID:15790600|PMID:16424004|PMID:16442593|PMID:16984552|PMID:17003774|PMID:17148459|PMID:18264097|PMID:18500220|PMID:18676866|PMID:27318894
1561403	Klk1c10	kallikrein 1-related peptidase C10	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1343198	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: marker/mechanism	PMID:16984552
1561403	Klk1c10	kallikrein 1-related peptidase C10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561415	C19h16orf86	similar to human chromosome 16 open reading frame 86	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561415	C19h16orf86	similar to human chromosome 16 open reading frame 86	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561419	Arhgap30	Rho GTPase activating protein 30	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561419	Arhgap30	Rho GTPase activating protein 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561419	Arhgap30	Rho GTPase activating protein 30	gene	DOID:1115	sarcoma		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561419	Arhgap30	Rho GTPase activating protein 30	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1604190	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1561419	Arhgap30	Rho GTPase activating protein 30	gene	DOID:1909	melanoma		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561419	Arhgap30	Rho GTPase activating protein 30	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561419	Arhgap30	Rho GTPase activating protein 30	gene	DOID:3275	thymoma		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561419	Arhgap30	Rho GTPase activating protein 30	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561419	Arhgap30	Rho GTPase activating protein 30	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604190	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1561419	Arhgap30	Rho GTPase activating protein 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561420	Il27	interleukin 27	gene	DOID:0060496	respiratory allergy		ISO	RGD:1615620	D	RGD:4145651|PMID:20817868	20110304	RGD			
1561420	Il27	interleukin 27	gene	DOID:10303	sialadenitis	exacerbates	ISO	RGD:1615620	D	RGD:126790516|PMID:32307922	20210423	RGD		mRNA:increased expression:saliva-secreting gland (mouse)	
1561420	Il27	interleukin 27	gene	DOID:106	pleural tuberculosis		ISO	RGD:1343577	D	RGD:126790505|PMID:25753767	20210423	RGD		associated with Pleural Effusion;protein:increased expression:pleural fluid (human)	
1561420	Il27	interleukin 27	gene	DOID:106	pleural tuberculosis		ISO	RGD:1343577	D	RGD:126790517|PMID:28844060	20210426	RGD		associated with Pleural Effusion;protein:increased expression:pleural fluid (human)	
1561420	Il27	interleukin 27	gene	DOID:106	pleural tuberculosis		ISO	RGD:1343577	D	RGD:126790523|PMID:23962500	20210426	RGD		associated with Pleural Effusion;protein:increased expression:pleural fluid (human)	
1561420	Il27	interleukin 27	gene	DOID:106	pleural tuberculosis	exacerbates	ISO	RGD:1343577	D	RGD:126790549|PMID:31819557	20210426	RGD		protein:increased expression:alveolar system (human)	
1561420	Il27	interleukin 27	gene	DOID:10887	lepromatous leprosy	ameliorates	ISO	RGD:1343577	D	RGD:126790539|PMID:26030183	20210426	RGD		mRNA:decreased expression:skin of body (human)	
1561420	Il27	interleukin 27	gene	DOID:11123	IgA vasculitis		ISO	RGD:1343577	D	RGD:126790550|PMID:33280050	20210426	RGD		mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)"	
1561420	Il27	interleukin 27	gene	DOID:1123	spondyloarthropathy		ISO	RGD:1615620	D	RGD:14995936|PMID:29494633	20191101	RGD			
1561420	Il27	interleukin 27	gene	DOID:12365	malaria		ISO	RGD:1615620	D	RGD:126790512|PMID:24522137	20210423	RGD			
1561420	Il27	interleukin 27	gene	DOID:12365	malaria	ameliorates	ISO	RGD:1615620	D	RGD:11530371|PMID:26968425	20210426	RGD			
1561420	Il27	interleukin 27	gene	DOID:1273	respiratory syncytial virus infectious disease	ameliorates	ISO	RGD:1615620	D	RGD:126790525|PMID:22301139	20210426	RGD			
1561420	Il27	interleukin 27	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1615620	D	RGD:126790535|PMID:20435892	20210426	RGD		protein, mRNA:increased expression:blood serum, spleen (mouse)	
1561420	Il27	interleukin 27	gene	DOID:1724	duodenal ulcer		ISO	RGD:1343577	D	RGD:126790551|PMID:31702083	20210426	RGD		associated with Helicobacter Infections;protein:increased expression:blood serum (human)	
1561420	Il27	interleukin 27	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:1615620	D	RGD:39456136|PMID:23729211	20210423	RGD			
1561420	Il27	interleukin 27	gene	DOID:2043	hepatitis B		ISO	RGD:1343577	D	RGD:126790497|PMID:26925776	20210423	RGD		mRNA:increased expression:blood plasma (human)	
1561420	Il27	interleukin 27	gene	DOID:2043	hepatitis B		ISO	RGD:1343577	D	RGD:126790543|PMID:22766719	20210426	RGD		protein:increased expression:blood serum (human)	
1561420	Il27	interleukin 27	gene	DOID:2043	hepatitis B	exacerbates	ISO	RGD:1343577	D	RGD:39128258|PMID:19081304	20210423	RGD		protein:increased expression:blood serum (human)	
1561420	Il27	interleukin 27	gene	DOID:2841	asthma		ISO	RGD:1343577	D	RGD:4145651|PMID:20817868	20110304	RGD		protein:increased expression:sputum	
1561420	Il27	interleukin 27	gene	DOID:2841	asthma		ISO	RGD:1615620	D	RGD:5128479|PMID:19542437	20110304	RGD			
1561420	Il27	interleukin 27	gene	DOID:2841	asthma		ISO	RGD:1615620	D	RGD:5128491|PMID:17878337	20110304	RGD			
1561420	Il27	interleukin 27	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1343577	D	RGD:5128485|PMID:17318299	20110304	RGD		DNA:SNP: :g.-964A>G (human)	
1561420	Il27	interleukin 27	gene	DOID:2841	asthma	treatment	ISO	RGD:1615620	D	RGD:11076728|PMID:26595888	20210423	RGD			
1561420	Il27	interleukin 27	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1343577	D	RGD:39456132|PMID:30948177	20210426	RGD		DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human)	
1561420	Il27	interleukin 27	gene	DOID:2957	pulmonary tuberculosis	exacerbates	ISO	RGD:1343577	D	RGD:126790508|PMID:31949807	20210423	RGD		DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human)	
1561420	Il27	interleukin 27	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1343577	D	RGD:5128484|PMID:18554158	20110304	RGD		DNA:polymorphisms: :-964A>G, 2905T>G (human)	
1561420	Il27	interleukin 27	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis		ISO	RGD:1343577	D	RGD:126790519|PMID:24041428	20210426	RGD		associated with HTLV-I Infections;mRNA:decreased expression:blood (human)	
1561420	Il27	interleukin 27	gene	DOID:3944	Arenaviridae infectious disease		ISO	RGD:1615620	D	RGD:126790521|PMID:29593047	20210426	RGD		mRNA, protein:increased expression:spleen (mouse)	
1561420	Il27	interleukin 27	gene	DOID:399	tuberculosis		ISO	RGD:1343577	D	RGD:126790514|PMID:25511588	20210423	RGD		associated with Pleural Effusion;protein:increased expression:pleural effusion (human)	
1561420	Il27	interleukin 27	gene	DOID:399	tuberculosis	exacerbates	ISO	RGD:1343577	D	RGD:9068941	20210430	RGD		mRNA:increased expression:blood (human)	PMID:26282876|REF_RGD_ID:11086047
1561420	Il27	interleukin 27	gene	DOID:418	systemic scleroderma		ISO	RGD:1343577	D	RGD:5128477|PMID:20705635	20110304	RGD		protein:increased expression:serum	
1561420	Il27	interleukin 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1343577	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561420	Il27	interleukin 27	gene	DOID:5082	liver cirrhosis		ISO	RGD:1343577	D	RGD:126790507|PMID:22230324	20210423	RGD		associated with hepatitis B;protein:increased expression:blood serum (human)	
1561420	Il27	interleukin 27	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1343577	D	RGD:126790553|PMID:24816922	20210426	RGD		associated with hepatitis C;protein:increased expression:blood plasma (human)	
1561420	Il27	interleukin 27	gene	DOID:526	human immunodeficiency virus infectious disease	ameliorates	ISO	RGD:1343577	D	RGD:126790518|PMID:28338007	20210426	RGD		protein:increased expression:blood plasma (human)	
1561420	Il27	interleukin 27	gene	DOID:552	pneumonia		ISO	RGD:1615620	D	RGD:5128483|PMID:19124731	20110304	RGD			
1561420	Il27	interleukin 27	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561420	Il27	interleukin 27	gene	DOID:750	peptic ulcer disease		ISO	RGD:1343577	D	RGD:126790506|PMID:21791025	20210423	RGD		associated with Helicobacter infections;protein:increased expression:blood serum (human)	
1561420	Il27	interleukin 27	gene	DOID:8515	Cor pulmonale	disease_progression	ISO	RGD:1343577	D	RGD:126790503|PMID:27403033	20210423	RGD		associated with hand, foot and mouth disease;protein:altered expression:blood��serum (human)	
1561420	Il27	interleukin 27	gene	DOID:8568	infectious mononucleosis		ISO	RGD:1343577	D	RGD:126790542|PMID:33571934	20210426	RGD		protein:increased expression:blood serum (human)	
1561420	Il27	interleukin 27	gene	DOID:9000238	Acute-On-Chronic Liver Failure		ISO	RGD:1343577	D	RGD:126790526|PMID:23890319	20210426	RGD		associated with hepatitis B;protein:increased expression:blood serum (human)	
1561420	Il27	interleukin 27	gene	DOID:9000238	Acute-On-Chronic Liver Failure		ISO	RGD:1343577	D	RGD:126790529|PMID:31198792	20210426	RGD		associated with hepatitis B;protein:increased expression:blood serum (human)	
1561420	Il27	interleukin 27	gene	DOID:9000371	influenza A		ISO	RGD:1343577	D	RGD:126790513|PMID:22343630	20210423	RGD		protein:increased expression:blood serum (human)	
1561420	Il27	interleukin 27	gene	DOID:9000989	Pneumococcal Infections		ISO	RGD:1615620	D	RGD:11556418|PMID:24408967	20210426	RGD		associated with influenza A;protein:increased expression:lung (mouse)	
1561420	Il27	interleukin 27	gene	DOID:9001934	Neonatal Sepsis		ISO	RGD:1343577	D	RGD:126790543|PMID:22766719	20210505	RGD		protien:increased expression:blood serum (human)	
1561420	Il27	interleukin 27	gene	DOID:9001934	Neonatal Sepsis		ISO	RGD:1615620	D	RGD:126790524|PMID:31818960	20210426	RGD		protein:increased expression:blood serum (mouse)	
1561420	Il27	interleukin 27	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1343577	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:21801027|PMID:24028178
1561420	Il27	interleukin 27	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1615620	D	RGD:126790527|PMID:33403844	20210426	RGD		protein:decreased expression:blood serum (mouse)	
1561420	Il27	interleukin 27	gene	DOID:9004017	Chronic Hepatitis C	ameliorates	ISO	RGD:1343577	D	RGD:126790538|PMID:27221901	20210426	RGD		DNA:SNP:promoter:-964A>G (rs153109) (human)	
1561420	Il27	interleukin 27	gene	DOID:9004484	Sepsis		ISO	RGD:1343577	D	RGD:126790544|PMID:18227999	20210426	RGD		mRNA:increased expression:blood, leukocyte (human)	
1561420	Il27	interleukin 27	gene	DOID:9004484	Sepsis		ISO	RGD:1615620	D	RGD:126790537|PMID:20493722	20210426	RGD		associated with Herpesviridae Infections;protein:increased expression:blood serum, spleen (mouse)	
1561420	Il27	interleukin 27	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1343577	D	RGD:126790509|PMID:30268141	20210423	RGD		DNA:SNP:promoter:-964A>G (rs153109) (human)	
1561420	Il27	interleukin 27	gene	DOID:9004484	Sepsis	exacerbates	ISO	RGD:1343577	D	RGD:126790502|PMID:22965735	20210423	RGD		protein:increased expression:blood (human)	
1561420	Il27	interleukin 27	gene	DOID:9004484	Sepsis	severity	ISO	RGD:1615620	D	RGD:126790536|PMID:26767500	20210426	RGD			
1561420	Il27	interleukin 27	gene	DOID:9004945	Ocular Toxoplasmosis	disease_progression	ISO	RGD:1615620	D	RGD:126790500|PMID:29779048	20210423	RGD		mRNA:increased expression:eye, cervical lymph node (mouse)	
1561420	Il27	interleukin 27	gene	DOID:9005036	Bacteremia		ISO	RGD:1343577	D	RGD:9068941	20210423	RGD		protein:increased expression:blood serum (human)	PMID:26514771|REF_RGD_ID:126790515
1561420	Il27	interleukin 27	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:1615620	D	RGD:126790498|PMID:27926930	20210423	RGD		protein:increased expression:spleen, saliva-secreting gland (mouse)	
1561420	Il27	interleukin 27	gene	DOID:9006732	Clostridium Infections		ISO	RGD:1343577	D	RGD:126790495|PMID:29140433	20210423	RGD		associated with diarrhea;protein:increased expression:blood��serum, feces (human)	
1561420	Il27	interleukin 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561420	Il27	interleukin 27	gene	DOID:9007367	Septic Peritonitis	exacerbates	ISO	RGD:1615620	D	RGD:126790504|PMID:16880260	20210423	RGD			
1561420	Il27	interleukin 27	gene	DOID:9007417	Pseudomonas Infections	ameliorates	ISO	RGD:1615620	D	RGD:126790541|PMID:25074706	20210426	RGD		associated with Sepsis	
1561420	Il27	interleukin 27	gene	DOID:9065	leishmaniasis	exacerbates	ISO	RGD:1615620	D	RGD:126790552|PMID:25466588	20210426	RGD			
1561420	Il27	interleukin 27	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1615620	D	RGD:126790520|PMID:27245409	20210426	RGD		mRNA, protein:increased expression:spleen, liver (mouse)	
1561420	Il27	interleukin 27	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1343577	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430480
1561420	Il27	interleukin 27	gene	DOID:9965	toxoplasmosis		ISO	RGD:1615620	D	RGD:126790522|PMID:22981537	20210426	RGD			
1561420	Il27	interleukin 27	gene	DOID:9965	toxoplasmosis	susceptibility	ISO	RGD:1615620	D	RGD:126790501|PMID:31548322	20210423	RGD			
1561421	Cplane2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1618278	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1561421	Cplane2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561421	Cplane2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561421	Cplane2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:14679	VACTERL association		ISS	RGD:1618278	D	RGD:13592920	20180518	MouseDO		OMIM:192350 | OMIM:276950	
1561421	Cplane2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561421	Cplane2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561421	Cplane2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561422	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561422	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561422	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561422	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1347917	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561422	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561422	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561422	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561422	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561422	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561422	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561422	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561422	Ascc2	activating signal cointegrator 1 complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561424	Ccdc68	coiled-coil domain containing 68	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561424	Ccdc68	coiled-coil domain containing 68	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561424	Ccdc68	coiled-coil domain containing 68	gene	DOID:10534	stomach cancer		ISO	RGD:1601959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561424	Ccdc68	coiled-coil domain containing 68	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561424	Ccdc68	coiled-coil domain containing 68	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561424	Ccdc68	coiled-coil domain containing 68	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561424	Ccdc68	coiled-coil domain containing 68	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1601959	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	
1561425	Mettl21c	methyltransferase 21C, AARS1 lysine	gene	DOID:10534	stomach cancer		ISO	RGD:1606433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561425	Mettl21c	methyltransferase 21C, AARS1 lysine	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561431	Hoxa3	homeobox A3	gene	DOID:11198	DiGeorge syndrome		ISS	RGD:1557652	D	RGD:13592920	20180518	MouseDO		OMIM:188400	
1561431	Hoxa3	homeobox A3	gene	DOID:1682	congenital heart disease		ISO	RGD:1344896	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:1673020
1561431	Hoxa3	homeobox A3	gene	DOID:1909	melanoma		ISO	RGD:1344896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561431	Hoxa3	homeobox A3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561431	Hoxa3	homeobox A3	gene	DOID:3275	thymoma		ISO	RGD:1344896	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561431	Hoxa3	homeobox A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561431	Hoxa3	homeobox A3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1344896	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1561431	Hoxa3	homeobox A3	gene	DOID:9002213	Lymphatic Abnormalities		ISO	RGD:1344896	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:1673020
1561431	Hoxa3	homeobox A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561431	Hoxa3	homeobox A3	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1344896	D	RGD:11554173	20170808	CTD		CTD Direct Evidence: marker/mechanism	PMID:1673020
1561431	Hoxa3	homeobox A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561436	Daw1	dynein assembly factor with WD repeats 1	gene	DOID:0050144	Kartagener syndrome		ISS	RGD:1615857	D	RGD:13592920	20180518	MouseDO			
1561436	Daw1	dynein assembly factor with WD repeats 1	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1615857	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1561436	Daw1	dynein assembly factor with WD repeats 1	gene	DOID:0070765	primary ciliary dyskinesia 52		ISO	RGD:1602062	D	RGD:7240710	20231115	OMIM			
1561436	Daw1	dynein assembly factor with WD repeats 1	gene	DOID:0070765	primary ciliary dyskinesia 52		ISO	RGD:1602062	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 52 | ClinVar Annotator: match by term: DAW1-related disorder	PMID:25741868
1561436	Daw1	dynein assembly factor with WD repeats 1	gene	DOID:1324	lung cancer		ISO	RGD:1602062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561436	Daw1	dynein assembly factor with WD repeats 1	gene	DOID:3070	high grade glioma		ISO	RGD:1602062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561436	Daw1	dynein assembly factor with WD repeats 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561436	Daw1	dynein assembly factor with WD repeats 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561436	Daw1	dynein assembly factor with WD repeats 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602062	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561436	Daw1	dynein assembly factor with WD repeats 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561436	Daw1	dynein assembly factor with WD repeats 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1602062	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:25741868
1561436	Daw1	dynein assembly factor with WD repeats 1	gene	DOID:9562	primary ciliary dyskinesia		ISS	RGD:1615857	D	RGD:13592920	20180518	MouseDO			
1561444	Matcap2	microtubule associated tyrosine carboxypeptidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561444	Matcap2	microtubule associated tyrosine carboxypeptidase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561444	Matcap2	microtubule associated tyrosine carboxypeptidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561444	Matcap2	microtubule associated tyrosine carboxypeptidase 2	gene	DOID:1909	melanoma		ISO	RGD:1603687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561444	Matcap2	microtubule associated tyrosine carboxypeptidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603687	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561444	Matcap2	microtubule associated tyrosine carboxypeptidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561445	Kiaa1210	KIAA1210 homolog	gene	DOID:0050117	disease by infectious agent		ISO	RGD:2301934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1561445	Kiaa1210	KIAA1210 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2301934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561445	Kiaa1210	KIAA1210 homolog	gene	DOID:1115	sarcoma		ISO	RGD:2301934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561445	Kiaa1210	KIAA1210 homolog	gene	DOID:11162	respiratory failure		ISO	RGD:2301934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	
1561445	Kiaa1210	KIAA1210 homolog	gene	DOID:1969	cerebral palsy		ISO	RGD:2301934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1561445	Kiaa1210	KIAA1210 homolog	gene	DOID:2841	asthma		ISO	RGD:2301934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1561445	Kiaa1210	KIAA1210 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2301934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561445	Kiaa1210	KIAA1210 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2301934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561445	Kiaa1210	KIAA1210 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2301934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561445	Kiaa1210	KIAA1210 homolog	gene	DOID:9003507	Premature Birth		ISO	RGD:2301934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1561445	Kiaa1210	KIAA1210 homolog	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:2301934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1561445	Kiaa1210	KIAA1210 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2301934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561447	Manbal	mannosidase beta like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561447	Manbal	mannosidase beta like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561447	Manbal	mannosidase beta like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561451	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561451	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561451	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561451	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561451	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561451	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342997	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561451	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561451	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561451	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561451	Nudt16l1	nudix hydrolase 16 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561456	Fancf	FA complementation group F	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1345063	D	RGD:11049143|PMID:17409780	20160405	RGD		mRNA:decreased expression:tongue:	
1561456	Fancf	FA complementation group F	gene	DOID:0111088	Fanconi anemia complementation group F		ISO	RGD:1345063	D	RGD:7240710	20130425	OMIM			
1561456	Fancf	FA complementation group F	gene	DOID:0111088	Fanconi anemia complementation group F		ISO	RGD:1345063	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP F | ClinVar Annotator: match by term: Fanconi anemia complementation group F | ClinVar Annotator: match by term: Fanconi anemia, complementation group F	PMID:10615118|PMID:11063725|PMID:12649160|PMID:15262960|PMID:16084127|PMID:16774934|PMID:17082180|PMID:18271933|PMID:22778927|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26033879|PMID:27714961|PMID:28102861|PMID:28492532|PMID:28678401|PMID:28687356|PMID:29368431|PMID:30256826|PMID:30262796|PMID:30680046|PMID:31721781|PMID:31882575
1561456	Fancf	FA complementation group F	gene	DOID:13636	Fanconi anemia		ISO	RGD:1345063	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:10615118|PMID:16084127|PMID:16774934|PMID:17924555|PMID:18271933|PMID:24728327|PMID:25741868|PMID:27714961|PMID:28259476|PMID:28492532|PMID:30256826|PMID:30262796|PMID:30995915|PMID:31882575|PMID:34117267|PMID:9382107
1561456	Fancf	FA complementation group F	gene	DOID:13636	Fanconi anemia		ISO	RGD:1345063	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:10615118|PMID:11063725|PMID:12649160|PMID:15262960|PMID:16084127|PMID:16774934|PMID:17082180|PMID:17924555|PMID:18271933|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26033879|PMID:27714961|PMID:28102861|PMID:28259476|PMID:28492532|PMID:28678401|PMID:29368431|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30680046|PMID:30995915|PMID:31882575|PMID:34117267|PMID:9382107
1561456	Fancf	FA complementation group F	gene	DOID:13636	Fanconi anemia		ISO	RGD:1345063	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:10615118|PMID:11063725|PMID:12649160|PMID:15262960|PMID:16084127|PMID:16774934|PMID:17082180|PMID:17924555|PMID:18271933|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26033879|PMID:27714961|PMID:28102861|PMID:28259476|PMID:28492532|PMID:28678401|PMID:28687356|PMID:29368431|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30680046|PMID:30995915|PMID:31882575|PMID:33850299|PMID:34117267|PMID:9382107
1561456	Fancf	FA complementation group F	gene	DOID:13636	Fanconi anemia		ISO	RGD:1345063	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:10615118|PMID:11063725|PMID:12649160|PMID:15262960|PMID:16084127|PMID:17082180|PMID:24728327|PMID:25741868|PMID:26033879|PMID:27714961|PMID:28102861|PMID:28492532|PMID:28678401|PMID:28687356|PMID:29368431|PMID:30256826|PMID:30262796|PMID:30680046|PMID:31721781|PMID:31882575
1561456	Fancf	FA complementation group F	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1345063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:17082180|PMID:35101336
1561456	Fancf	FA complementation group F	gene	DOID:14566	disease of cellular proliferation	susceptibility	ISO	RGD:2290337	D	RGD:11049141|PMID:21915857	20160405	RGD			
1561456	Fancf	FA complementation group F	gene	DOID:2394	ovarian cancer		ISO	RGD:1345063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532|PMID:31721781
1561456	Fancf	FA complementation group F	gene	DOID:2999	granulosa cell tumor	disease_progression	ISO	RGD:1345063	D	RGD:2298508|PMID:15574200	20080703	RGD		DNA:hypermethylation:promoter	
1561456	Fancf	FA complementation group F	gene	DOID:2999	granulosa cell tumor	susceptibility	ISO	RGD:2290337	D	RGD:11049141|PMID:21915857	20160405	RGD			
1561456	Fancf	FA complementation group F	gene	DOID:4943	adenocarcinoma in situ	disease_progression	ISO	RGD:1345063	D	RGD:11049137|PMID:14647419	20160404	RGD		DNA:hypermethylation:promoter:	
1561456	Fancf	FA complementation group F	gene	DOID:5426	primary ovarian insufficiency		ISS	RGD:2290337	D	RGD:13592920	20180518	MouseDO		OMIM:300510 | OMIM:300511 | OMIM:300604 | OMIM:311360 | OMIM:608996 | OMIM:611548 | OMIM:612310 | OMIM:612964 | OMIM:615723 | OMIM:615724	
1561456	Fancf	FA complementation group F	gene	DOID:630	genetic disease		ISO	RGD:1345063	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1561456	Fancf	FA complementation group F	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1345063	D	RGD:2290044|PMID:16418574	20080225	RGD		DNA, mRNA, protein:hypermethylation, decreased expression:ovary	
1561456	Fancf	FA complementation group F	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1345063	D	RGD:2298507|PMID:18414472	20080703	RGD		DNA:hypermethylation:promoter	
1561456	Fancf	FA complementation group F	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1345063	D	RGD:2290045|PMID:15126331	20080225	RGD		DNA:hypermethylation:promoter	
1561456	Fancf	FA complementation group F	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345063	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary cancer	PMID:25741868|PMID:28259476|PMID:28492532|PMID:30995915|PMID:34117267
1561456	Fancf	FA complementation group F	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345063	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:24728327|PMID:25741868|PMID:28259476|PMID:28492532|PMID:30995915|PMID:34117267
1561457	Actrt3	actin-related protein T3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561457	Actrt3	actin-related protein T3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561461	Lrrc43	leucine rich repeat containing 43	gene	DOID:0080600	COVID-19		ISO	RGD:1602639	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1561461	Lrrc43	leucine rich repeat containing 43	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561461	Lrrc43	leucine rich repeat containing 43	gene	DOID:1909	melanoma		ISO	RGD:1602639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561461	Lrrc43	leucine rich repeat containing 43	gene	DOID:4362	cervical cancer		ISO	RGD:1602639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561461	Lrrc43	leucine rich repeat containing 43	gene	DOID:5041	esophageal cancer		ISO	RGD:1602639	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561461	Lrrc43	leucine rich repeat containing 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561461	Lrrc43	leucine rich repeat containing 43	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561461	Lrrc43	leucine rich repeat containing 43	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561461	Lrrc43	leucine rich repeat containing 43	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561462	Glb1l3	galactosidase, beta 1-like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561462	Glb1l3	galactosidase, beta 1-like 3	gene	DOID:1115	sarcoma		ISO	RGD:1603928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561462	Glb1l3	galactosidase, beta 1-like 3	gene	DOID:1909	melanoma		ISO	RGD:1603928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561462	Glb1l3	galactosidase, beta 1-like 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561462	Glb1l3	galactosidase, beta 1-like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1605345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1605345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:1115	sarcoma	susceptibility	ISO	RGD:1557158	D	RGD:11552595|PMID:21901109	20161012	RGD			
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1605345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:3192	neurilemmoma		ISO	RGD:1605345	D	RGD:11552594|PMID:20844836	20161012	RGD		mRNA:increased expression:neural tissue (human)	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:3275	thymoma		ISO	RGD:1605345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1605345	D	RGD:11554173	20221213	CTD		CTD Direct Evidence: marker/mechanism	PMID:25581431
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1605345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1605345	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605345	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:9008582	Developmental Disease	susceptibility	ISO	RGD:1557158	D	RGD:11552595|PMID:21901109	20161012	RGD			
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1561464	Atad5	ATPase family, AAA domain containing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:0040084	Streptococcus pneumonia	severity	ISO	RGD:1557900	D	RGD:39938986|PMID:16134084	20201017	RGD			
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:0050598	extrapulmonary tuberculosis	susceptibility	ISO	RGD:1603701	D	RGD:39938981|PMID:24874302	20201019	RGD		DNA:repeats:exon 4: allele 6, allele 9 (human)	
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:1412	bacteriuria		ISO	RGD:1557900	D	RGD:41410804|PMID:31998663	20210215	RGD		associated with Escherichia Coli Infections	
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:2945	severe acute respiratory syndrome	no_association	ISO	RGD:1603701	D	RGD:36049806|PMID:17534354	20200721	RGD		DNA:repeats:exon 4:	
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:2945	severe acute respiratory syndrome	no_association	ISO	RGD:1603701	D	RGD:36049807|PMID:17534355	20200721	RGD		DNA:repeats:exon 4:	
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:2945	severe acute respiratory syndrome	susceptibility	ISO	RGD:1603701	D	RGD:35673327|PMID:16369534	20200721	RGD		DNA:repeats:exon 4:	
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:2945	severe acute respiratory syndrome	susceptibility	ISO	RGD:1603701	D	RGD:36049808|PMID:18708672	20200721	RGD		DNA:repeats:exon 4:	
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1557900	D	RGD:39938983|PMID:19770268	20201016	RGD			
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1557900	D	RGD:39938987|PMID:17224292	20201017	RGD			
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1603701	D	RGD:39938981|PMID:24874302	20201019	RGD		DNA:repeats:exon 4: allele 4, allele 5, allele 9 (human)	
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603701	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:9003284	HIV Seropositivity		ISO	RGD:1603701	D	RGD:11520989|PMID:25656622	20201016	RGD		DNA:repeats:exon 4	
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:9003284	HIV Seropositivity	susceptibility	ISO	RGD:1603701	D	RGD:39938979|PMID:16453266	20201018	RGD		DNA:repeats:	
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:9003284	HIV Seropositivity	susceptibility	ISO	RGD:1603701	D	RGD:39938989|PMID:20217198	20210216	RGD		DNA:repeat:	
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:1603701	D	RGD:41410818|PMID:24283933	20210216	RGD		DNA:polymorphism,repeats:exon4: allele 4 (human)	
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:9004702	Pregnancy Complications	susceptibility	IAGP		D	RGD:39938980|PMID:22338216	20210215	RGD		associated with hepatitis B; DNA::	
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:9006550	hepatosplenic schistosomiasis		ISO	RGD:1557900	D	RGD:39938988|PMID:18981244	20201017	RGD			
1561466	Clec4m	C-type lectin domain family 4 member M	gene	DOID:9007367	Septic Peritonitis	susceptibility	ISO	RGD:1557900	D	RGD:39939009|PMID:15583012	20201104	RGD			
1561471	Arl2bp	ARF like GTPase 2 binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561471	Arl2bp	ARF like GTPase 2 binding protein	gene	DOID:0110419	retinitis pigmentosa with or without situs inversus		ISO	RGD:1344137	D	RGD:7240710	20140911	OMIM			
1561471	Arl2bp	ARF like GTPase 2 binding protein	gene	DOID:0110419	retinitis pigmentosa with or without situs inversus		ISO	RGD:1344137	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARL2BP-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 82 | ClinVar Annotator: match by term: Retinitis pigmentosa with or without situs inversus	PMID:17576681|PMID:23849777|PMID:25741868|PMID:27790702|PMID:28041643|PMID:28492532|PMID:30210231|PMID:32581362|PMID:34906502|PMID:9536098
1561471	Arl2bp	ARF like GTPase 2 binding protein	gene	DOID:0110419	retinitis pigmentosa with or without situs inversus		ISS	RGD:1616652	D	RGD:13592920	20230718	MouseDO		OMIM:615434	
1561471	Arl2bp	ARF like GTPase 2 binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1344137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561471	Arl2bp	ARF like GTPase 2 binding protein	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1344137	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:23849777|PMID:25741868|PMID:36909829
1561471	Arl2bp	ARF like GTPase 2 binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1344137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561471	Arl2bp	ARF like GTPase 2 binding protein	gene	DOID:12336	male infertility		ISS	RGD:1616652	D	RGD:13592920	20191128	MouseDO			
1561471	Arl2bp	ARF like GTPase 2 binding protein	gene	DOID:3275	thymoma		ISO	RGD:1344137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561471	Arl2bp	ARF like GTPase 2 binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561471	Arl2bp	ARF like GTPase 2 binding protein	gene	DOID:630	genetic disease		ISO	RGD:1344137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1561471	Arl2bp	ARF like GTPase 2 binding protein	gene	DOID:8501	fundus dystrophy		ISO	RGD:1344137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1561474	Osbpl8	oxysterol binding protein-like 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561474	Osbpl8	oxysterol binding protein-like 8	gene	DOID:10534	stomach cancer		ISO	RGD:1348483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561474	Osbpl8	oxysterol binding protein-like 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561474	Osbpl8	oxysterol binding protein-like 8	gene	DOID:1115	sarcoma		ISO	RGD:1348483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561474	Osbpl8	oxysterol binding protein-like 8	gene	DOID:1909	melanoma		ISO	RGD:1348483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561474	Osbpl8	oxysterol binding protein-like 8	gene	DOID:4362	cervical cancer		ISO	RGD:1348483	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561474	Osbpl8	oxysterol binding protein-like 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1348483	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561474	Osbpl8	oxysterol binding protein-like 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561474	Osbpl8	oxysterol binding protein-like 8	gene	DOID:9004657	Weight Gain		ISO	RGD:1348483	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1561474	Osbpl8	oxysterol binding protein-like 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561474	Osbpl8	oxysterol binding protein-like 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561474	Osbpl8	oxysterol binding protein-like 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561474	Osbpl8	oxysterol binding protein-like 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1348483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561482	Fam107b	family with sequence similarity 107, member B	gene	DOID:1115	sarcoma		ISO	RGD:1346416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561482	Fam107b	family with sequence similarity 107, member B	gene	DOID:3275	thymoma		ISO	RGD:1346416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561482	Fam107b	family with sequence similarity 107, member B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561482	Fam107b	family with sequence similarity 107, member B	gene	DOID:4362	cervical cancer		ISO	RGD:1346416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561482	Fam107b	family with sequence similarity 107, member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561486	Cep70	centrosomal protein 70	gene	DOID:0050567	orofacial cleft		ISO	RGD:1601960	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Median cleft lip and palate	PMID:19254375|PMID:25741868
1561486	Cep70	centrosomal protein 70	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561486	Cep70	centrosomal protein 70	gene	DOID:10534	stomach cancer		ISO	RGD:1601960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561486	Cep70	centrosomal protein 70	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561486	Cep70	centrosomal protein 70	gene	DOID:1324	lung cancer		ISO	RGD:1601960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561486	Cep70	centrosomal protein 70	gene	DOID:1909	melanoma		ISO	RGD:1601960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561486	Cep70	centrosomal protein 70	gene	DOID:3275	thymoma		ISO	RGD:1601960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561486	Cep70	centrosomal protein 70	gene	DOID:4362	cervical cancer		ISO	RGD:1601960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561486	Cep70	centrosomal protein 70	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561486	Cep70	centrosomal protein 70	gene	DOID:5041	esophageal cancer		ISO	RGD:1601960	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561486	Cep70	centrosomal protein 70	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561486	Cep70	centrosomal protein 70	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561486	Cep70	centrosomal protein 70	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561486	Cep70	centrosomal protein 70	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561490	Ap1m2	adaptor related protein complex 1 subunit mu 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561490	Ap1m2	adaptor related protein complex 1 subunit mu 2	gene	DOID:10534	stomach cancer		ISO	RGD:1354372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561490	Ap1m2	adaptor related protein complex 1 subunit mu 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561490	Ap1m2	adaptor related protein complex 1 subunit mu 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561490	Ap1m2	adaptor related protein complex 1 subunit mu 2	gene	DOID:3275	thymoma		ISO	RGD:1354372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561490	Ap1m2	adaptor related protein complex 1 subunit mu 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561490	Ap1m2	adaptor related protein complex 1 subunit mu 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561490	Ap1m2	adaptor related protein complex 1 subunit mu 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561490	Ap1m2	adaptor related protein complex 1 subunit mu 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1354372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561492	Tmem141	transmembrane protein 141	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561492	Tmem141	transmembrane protein 141	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1602669	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1561492	Tmem141	transmembrane protein 141	gene	DOID:1909	melanoma		ISO	RGD:1602669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561492	Tmem141	transmembrane protein 141	gene	DOID:4362	cervical cancer		ISO	RGD:1602669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561492	Tmem141	transmembrane protein 141	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561492	Tmem141	transmembrane protein 141	gene	DOID:6039	uveal melanoma		ISO	RGD:1602669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1561492	Tmem141	transmembrane protein 141	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561492	Tmem141	transmembrane protein 141	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561492	Tmem141	transmembrane protein 141	gene	DOID:9256	colorectal cancer		ISO	RGD:1602669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561494	Wdr54	WD repeat domain 54	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561494	Wdr54	WD repeat domain 54	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561494	Wdr54	WD repeat domain 54	gene	DOID:10534	stomach cancer		ISO	RGD:1347717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561494	Wdr54	WD repeat domain 54	gene	DOID:1909	melanoma		ISO	RGD:1347717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561494	Wdr54	WD repeat domain 54	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561494	Wdr54	WD repeat domain 54	gene	DOID:3275	thymoma		ISO	RGD:1347717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561494	Wdr54	WD repeat domain 54	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561494	Wdr54	WD repeat domain 54	gene	DOID:4362	cervical cancer		ISO	RGD:1347717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561494	Wdr54	WD repeat domain 54	gene	DOID:5041	esophageal cancer		ISO	RGD:1347717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561494	Wdr54	WD repeat domain 54	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561494	Wdr54	WD repeat domain 54	gene	DOID:6039	uveal melanoma		ISO	RGD:1347717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1561494	Wdr54	WD repeat domain 54	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561494	Wdr54	WD repeat domain 54	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1561494	Wdr54	WD repeat domain 54	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561494	Wdr54	WD repeat domain 54	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:0051050	congenital disorder of glycosylation type IIv		ISO	RGD:1353394	D	RGD:7240710	20210908	OMIM			
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:0051050	congenital disorder of glycosylation type IIv		ISO	RGD:1353394	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 2v | ClinVar Annotator: match by term: EDEM3-related disorder	PMID:25741868
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:1909	melanoma		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1353394	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation	PMID:25741868
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:630	genetic disease		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1353394	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561496	Edem3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353394	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561499	Lrrc31	leucine rich repeat containing 31	gene	DOID:1115	sarcoma		ISO	RGD:1346329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561499	Lrrc31	leucine rich repeat containing 31	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561499	Lrrc31	leucine rich repeat containing 31	gene	DOID:4362	cervical cancer		ISO	RGD:1346329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561499	Lrrc31	leucine rich repeat containing 31	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561500	Spryd3	SPRY domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1602855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561500	Spryd3	SPRY domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1602855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561500	Spryd3	SPRY domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561500	Spryd3	SPRY domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561500	Spryd3	SPRY domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561500	Spryd3	SPRY domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561500	Spryd3	SPRY domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561500	Spryd3	SPRY domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561501	Afg1l	AFG1 like ATPase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561501	Afg1l	AFG1 like ATPase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561501	Afg1l	AFG1 like ATPase	gene	DOID:3275	thymoma		ISO	RGD:1349497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561501	Afg1l	AFG1 like ATPase	gene	DOID:4362	cervical cancer		ISO	RGD:1349497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561501	Afg1l	AFG1 like ATPase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561501	Afg1l	AFG1 like ATPase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561501	Afg1l	AFG1 like ATPase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561501	Afg1l	AFG1 like ATPase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1561501	Afg1l	AFG1 like ATPase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561503	Ccdc152	coiled-coil domain containing 152	gene	DOID:1115	sarcoma		ISO	RGD:2298815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561503	Ccdc152	coiled-coil domain containing 152	gene	DOID:2513	basal cell carcinoma		ISO	RGD:2298815	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1561503	Ccdc152	coiled-coil domain containing 152	gene	DOID:3275	thymoma		ISO	RGD:2298815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561503	Ccdc152	coiled-coil domain containing 152	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2298815	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561503	Ccdc152	coiled-coil domain containing 152	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2298815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561503	Ccdc152	coiled-coil domain containing 152	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2298815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561506	Tmem170b	transmembrane protein 170B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2293893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561506	Tmem170b	transmembrane protein 170B	gene	DOID:1115	sarcoma		ISO	RGD:2293893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561506	Tmem170b	transmembrane protein 170B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2293893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561506	Tmem170b	transmembrane protein 170B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2293893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561507	Spata33	spermatogenesis associated 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561507	Spata33	spermatogenesis associated 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561510	Dgkk	diacylglycerol kinase kappa	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561510	Dgkk	diacylglycerol kinase kappa	gene	DOID:10892	hypospadias		ISO	RGD:1603361	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21113153|PMID:27098078
1561510	Dgkk	diacylglycerol kinase kappa	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561510	Dgkk	diacylglycerol kinase kappa	gene	DOID:4362	cervical cancer		ISO	RGD:1603361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561510	Dgkk	diacylglycerol kinase kappa	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561510	Dgkk	diacylglycerol kinase kappa	gene	DOID:5041	esophageal cancer		ISO	RGD:1603361	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561510	Dgkk	diacylglycerol kinase kappa	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561512	Atoh8	atonal bHLH transcription factor 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561512	Atoh8	atonal bHLH transcription factor 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561512	Atoh8	atonal bHLH transcription factor 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561512	Atoh8	atonal bHLH transcription factor 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561512	Atoh8	atonal bHLH transcription factor 8	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1350083	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1561517	C3h20orf144	similar to human chromosome 20 open reading frame 144	gene	DOID:1324	lung cancer		ISO	RGD:1348206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561518	Ttc22	tetratricopeptide repeat domain 22	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561518	Ttc22	tetratricopeptide repeat domain 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561518	Ttc22	tetratricopeptide repeat domain 22	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561518	Ttc22	tetratricopeptide repeat domain 22	gene	DOID:4362	cervical cancer		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561518	Ttc22	tetratricopeptide repeat domain 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561518	Ttc22	tetratricopeptide repeat domain 22	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561519	Tnfsf13b	TNF superfamily member 13b	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561519	Tnfsf13b	TNF superfamily member 13b	gene	DOID:0080600	COVID-19		ISO	RGD:1345205	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1561519	Tnfsf13b	TNF superfamily member 13b	gene	DOID:12894	Sjogren's syndrome		ISS	RGD:1557043	D	RGD:13592920	20240425	MouseDO		OMIM:270150	
1561519	Tnfsf13b	TNF superfamily member 13b	gene	DOID:1909	melanoma		ISO	RGD:1345205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561519	Tnfsf13b	TNF superfamily member 13b	gene	DOID:2986	IgA glomerulonephritis		ISS	RGD:1557043	D	RGD:13592920	20240425	MouseDO		OMIM:161950	
1561519	Tnfsf13b	TNF superfamily member 13b	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561519	Tnfsf13b	TNF superfamily member 13b	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1345205	D	RGD:27095888|PMID:30660173	20200515	RGD			
1561519	Tnfsf13b	TNF superfamily member 13b	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561521	Dmkn	dermokine	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561521	Dmkn	dermokine	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561521	Dmkn	dermokine	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561521	Dmkn	dermokine	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561521	Dmkn	dermokine	gene	DOID:4362	cervical cancer		ISO	RGD:1605012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561521	Dmkn	dermokine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561521	Dmkn	dermokine	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561521	Dmkn	dermokine	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561521	Dmkn	dermokine	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561523	Gbp6	guanylate binding protein family member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561523	Gbp6	guanylate binding protein family member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561523	Gbp6	guanylate binding protein family member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1354251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561523	Gbp6	guanylate binding protein family member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1354251	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561523	Gbp6	guanylate binding protein family member 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561523	Gbp6	guanylate binding protein family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561526	Zfp512	zinc finger protein 512	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561526	Zfp512	zinc finger protein 512	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561526	Zfp512	zinc finger protein 512	gene	DOID:0060058	lymphoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1561526	Zfp512	zinc finger protein 512	gene	DOID:10534	stomach cancer		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561526	Zfp512	zinc finger protein 512	gene	DOID:1115	sarcoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561526	Zfp512	zinc finger protein 512	gene	DOID:1324	lung cancer		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561526	Zfp512	zinc finger protein 512	gene	DOID:4362	cervical cancer		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561526	Zfp512	zinc finger protein 512	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561526	Zfp512	zinc finger protein 512	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561526	Zfp512	zinc finger protein 512	gene	DOID:5041	esophageal cancer		ISO	RGD:1349628	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561526	Zfp512	zinc finger protein 512	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561526	Zfp512	zinc finger protein 512	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561526	Zfp512	zinc finger protein 512	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561526	Zfp512	zinc finger protein 512	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561526	Zfp512	zinc finger protein 512	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561530	Tle6	TLE family member 6, subcortical maternal complex member	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561530	Tle6	TLE family member 6, subcortical maternal complex member	gene	DOID:10534	stomach cancer		ISO	RGD:1343822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561530	Tle6	TLE family member 6, subcortical maternal complex member	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561530	Tle6	TLE family member 6, subcortical maternal complex member	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561530	Tle6	TLE family member 6, subcortical maternal complex member	gene	DOID:4362	cervical cancer		ISO	RGD:1343822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561530	Tle6	TLE family member 6, subcortical maternal complex member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561530	Tle6	TLE family member 6, subcortical maternal complex member	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561530	Tle6	TLE family member 6, subcortical maternal complex member	gene	DOID:9006818	Oocyte/Zygote/Embryo Maturation Arrest 15		ISO	RGD:1343822	D	RGD:7240710	20190315	OMIM			
1561530	Tle6	TLE family member 6, subcortical maternal complex member	gene	DOID:9006818	Oocyte/Zygote/Embryo Maturation Arrest 15		ISO	RGD:1343822	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15 | ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 | ClinVar Annotator: match by term: TLE6-related condition	PMID:25741868|PMID:36271123
1561530	Tle6	TLE family member 6, subcortical maternal complex member	gene	DOID:9007456	Female Infertility		ISO	RGD:1343822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Female infertility	PMID:25741868
1561530	Tle6	TLE family member 6, subcortical maternal complex member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:0080836	growth hormone insensitivity syndrome with immune dysregulation 1		ISO	RGD:1606875	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	PMID:25741868
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1606875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:24507776|PMID:25741868|PMID:27185855|PMID:28492532|PMID:29146883|PMID:29987015|PMID:36952636|PMID:37091189
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:1909	melanoma		ISO	RGD:1606875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:3275	thymoma		ISO	RGD:1606875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1606875	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:30879219
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:4961	bone marrow disease		ISO	RGD:1606875	D	RGD:8554872	20210810	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:25741868|PMID:29987015
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1606875	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:24507776|PMID:25741868|PMID:27185855|PMID:28492532|PMID:29146883|PMID:29987015
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:630	genetic disease		ISO	RGD:1606875	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:9004906	Congenital Bone Marrow Failure Syndromes		ISO	RGD:1606875	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:9007049	Bone Marrow Failure Syndrome 2		ISO	RGD:1606875	D	RGD:7240710	20140911	OMIM			
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:9007049	Bone Marrow Failure Syndrome 2		ISO	RGD:1606875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 2 | ClinVar Annotator: match by term: Bone marrow failure syndrome 2 | ClinVar Annotator: match by term: ERCC6L2-related condition	PMID:24507776|PMID:25741868|PMID:27185855|PMID:28492532|PMID:29146883|PMID:29987015
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561537	Ercc6l2	ERCC excision repair 6 like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561538	Slfn14	schlafen family member 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561538	Slfn14	schlafen family member 14	gene	DOID:0111055	platelet-type bleeding disorder 20		ISO	RGD:1602272	D	RGD:7240710	20201125	OMIM			
1561538	Slfn14	schlafen family member 14	gene	DOID:0111055	platelet-type bleeding disorder 20		ISO	RGD:1602272	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 20 | ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 | ClinVar Annotator: match by term: SLFN14-related condition | ClinVar Annotator: match by term: platelet-type bleeding disorder 20	PMID:25741868|PMID:26280575|PMID:28492532|PMID:32581362
1561538	Slfn14	schlafen family member 14	gene	DOID:1247	blood coagulation disease		ISO	RGD:1602272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bleeding and platelet disorders	PMID:32581362
1561538	Slfn14	schlafen family member 14	gene	DOID:1588	thrombocytopenia		ISO	RGD:1602272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532
1561538	Slfn14	schlafen family member 14	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1602272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
1561538	Slfn14	schlafen family member 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561538	Slfn14	schlafen family member 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1602272	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561538	Slfn14	schlafen family member 14	gene	DOID:630	genetic disease		ISO	RGD:1602272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1561538	Slfn14	schlafen family member 14	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1602272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: intrauterine growth restriction	PMID:25741868
1561538	Slfn14	schlafen family member 14	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:1602272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vitamin D deficiency	PMID:25741868|PMID:26280575|PMID:29678925
1561539	Dlx6	distal-less homeobox 6	gene	DOID:0090021	split hand-foot malformation 1		ISS	RGD:1557991	D	RGD:13592920	20180518	MouseDO		OMIM:183600	
1561539	Dlx6	distal-less homeobox 6	gene	DOID:4258	Weissenbacher-Zweymuller syndrome		ISO	RGD:12322400	D	RGD:9068941	20230511	OMIA		Cleft palate 1, DLX6-related	PMID:24699068|PMID:28738009|PMID:28887848|PMID:34838248
1561539	Dlx6	distal-less homeobox 6	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1347834	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14666512
1561541	Prr11	proline rich 11	gene	DOID:0080600	COVID-19		ISO	RGD:1601861	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1561541	Prr11	proline rich 11	gene	DOID:10534	stomach cancer		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561541	Prr11	proline rich 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561541	Prr11	proline rich 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561541	Prr11	proline rich 11	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561541	Prr11	proline rich 11	gene	DOID:4362	cervical cancer		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561541	Prr11	proline rich 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561541	Prr11	proline rich 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561541	Prr11	proline rich 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561541	Prr11	proline rich 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561554	Frmd5	FERM domain containing 5	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1557005	D	RGD:13592920	20240328	MouseDO			
1561554	Frmd5	FERM domain containing 5	gene	DOID:0081275	neurodevelopmental disorder with eye movement abnormalities and ataxia		ISO	RGD:1605911	D	RGD:7240710	20221102	OMIM			
1561554	Frmd5	FERM domain containing 5	gene	DOID:0081275	neurodevelopmental disorder with eye movement abnormalities and ataxia		ISO	RGD:1605911	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: FRMD5-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA | ClinVar Annotator: match by term: Neurodevelopmental disorder with eye movement abnormalities and ataxia	PMID:25741868|PMID:36206744
1561554	Frmd5	FERM domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561554	Frmd5	FERM domain containing 5	gene	DOID:1059	intellectual disability		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:36206744
1561554	Frmd5	FERM domain containing 5	gene	DOID:1059	intellectual disability		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, borderline | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:10907	microcephaly		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:1279	ocular motility disease		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Opsoclonus	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561554	Frmd5	FERM domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561554	Frmd5	FERM domain containing 5	gene	DOID:4428	dyslexia		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1605911	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561554	Frmd5	FERM domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561554	Frmd5	FERM domain containing 5	gene	DOID:630	genetic disease		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1561554	Frmd5	FERM domain containing 5	gene	DOID:6364	migraine		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:9000053	Headache		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:9000495	Tremor		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Limb tremor	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:9004369	Hypesthesia		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoesthesia	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1561554	Frmd5	FERM domain containing 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561554	Frmd5	FERM domain containing 5	gene	DOID:9007722	Myoclonus		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:9007892	Tics		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1561554	Frmd5	FERM domain containing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561554	Frmd5	FERM domain containing 5	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: Rotary nystagmus	PMID:25741868
1561555	Fancb	FA complementation group B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1561555	Fancb	FA complementation group B	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1351449	D	RGD:11049143|PMID:17409780	20160707	RGD			
1561555	Fancb	FA complementation group B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561555	Fancb	FA complementation group B	gene	DOID:0111098	Fanconi anemia complementation group B		ISO	RGD:1351449	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561555	Fancb	FA complementation group B	gene	DOID:0111098	Fanconi anemia complementation group B		ISO	RGD:1351449	D	RGD:7240710	20130425	OMIM			
1561555	Fancb	FA complementation group B	gene	DOID:0111098	Fanconi anemia complementation group B		ISO	RGD:1351449	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP B | ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B	PMID:15502827|PMID:16679491|PMID:17924555|PMID:21910217|PMID:23613520|PMID:24033266|PMID:25168418|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32546565
1561555	Fancb	FA complementation group B	gene	DOID:0111140	IGSF1 deficiency syndrome		ISO	RGD:1351449	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Hypothyroidism, central, and testicular enlargement | ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement	PMID:24033266|PMID:25741868|PMID:28492532
1561555	Fancb	FA complementation group B	gene	DOID:0111766	X-linked VACTERL association		ISO	RGD:1351449	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H, X-LINKED	PMID:24033266|PMID:25741868|PMID:28492532|PMID:32546565
1561555	Fancb	FA complementation group B	gene	DOID:10534	stomach cancer		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561555	Fancb	FA complementation group B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561555	Fancb	FA complementation group B	gene	DOID:13636	Fanconi anemia		ISO	RGD:1351449	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:15502827|PMID:16199547|PMID:17576681|PMID:23613520|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32410215|PMID:32546565|PMID:9536098
1561555	Fancb	FA complementation group B	gene	DOID:13636	Fanconi anemia		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:15502827|PMID:16199547|PMID:17576681|PMID:23613520|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32410215|PMID:32546565|PMID:36622392|PMID:9536098
1561555	Fancb	FA complementation group B	gene	DOID:1612	breast cancer		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast Cancer	PMID:28492532|PMID:33558524
1561555	Fancb	FA complementation group B	gene	DOID:1909	melanoma		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561555	Fancb	FA complementation group B	gene	DOID:4362	cervical cancer		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561555	Fancb	FA complementation group B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1561555	Fancb	FA complementation group B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351449	D	RGD:11344903|PMID:20332657	20160707	RGD		DNA:hypermethylation:promoter	
1561555	Fancb	FA complementation group B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561555	Fancb	FA complementation group B	gene	DOID:630	genetic disease		ISO	RGD:1351449	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1561555	Fancb	FA complementation group B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1561555	Fancb	FA complementation group B	gene	DOID:9002532	Neonatal Hyperbilirubinemia		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hyperbilirubinemia	PMID:28492532
1561555	Fancb	FA complementation group B	gene	DOID:9003703	Coxa Valga		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868|PMID:28492532
1561555	Fancb	FA complementation group B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:28492532
1561555	Fancb	FA complementation group B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561555	Fancb	FA complementation group B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:28492532
1561555	Fancb	FA complementation group B	gene	DOID:9007661	Dwarfism		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1561555	Fancb	FA complementation group B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1561555	Fancb	FA complementation group B	gene	DOID:9256	colorectal cancer		ISO	RGD:1351449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1561559	Cfap45	cilia and flagella associated protein 45	gene	DOID:0051025	visceral heterotaxy 11		ISO	RGD:1604370	D	RGD:7240710	20211201	OMIM			
1561559	Cfap45	cilia and flagella associated protein 45	gene	DOID:0051025	visceral heterotaxy 11		ISO	RGD:1604370	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY | ClinVar Annotator: match by term: Heterotaxy, visceral, 11, autosomal, with male infertility	PMID:25741868
1561559	Cfap45	cilia and flagella associated protein 45	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561559	Cfap45	cilia and flagella associated protein 45	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1604370	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:26928227
1561559	Cfap45	cilia and flagella associated protein 45	gene	DOID:3275	thymoma		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561559	Cfap45	cilia and flagella associated protein 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561559	Cfap45	cilia and flagella associated protein 45	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561559	Cfap45	cilia and flagella associated protein 45	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561559	Cfap45	cilia and flagella associated protein 45	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561559	Cfap45	cilia and flagella associated protein 45	gene	DOID:9256	colorectal cancer		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561565	Ier3ip1-ps1	immediate early response 3 interacting protein 1, pseudogene 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561565	Ier3ip1-ps1	immediate early response 3 interacting protein 1, pseudogene 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561565	Ier3ip1-ps1	immediate early response 3 interacting protein 1, pseudogene 1	gene	DOID:1826	epilepsy		ISO	RGD:1352833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868|PMID:29358611
1561565	Ier3ip1-ps1	immediate early response 3 interacting protein 1, pseudogene 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561565	Ier3ip1-ps1	immediate early response 3 interacting protein 1, pseudogene 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561565	Ier3ip1-ps1	immediate early response 3 interacting protein 1, pseudogene 1	gene	DOID:630	genetic disease		ISO	RGD:1352833	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1561565	Ier3ip1-ps1	immediate early response 3 interacting protein 1, pseudogene 1	gene	DOID:9002791	Microcephaly, Epilepsy, and Diabetes Syndrome		ISO	RGD:1352833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome	PMID:17576681|PMID:21835305|PMID:24138066|PMID:25741868|PMID:28492532|PMID:31264968|PMID:9536098
1561565	Ier3ip1-ps1	immediate early response 3 interacting protein 1, pseudogene 1	gene	DOID:9004175	Microcephaly, Epilepsy, and Diabetes Syndrome 1		ISO	RGD:1352833	D	RGD:7240710	20230505	OMIM			
1561565	Ier3ip1-ps1	immediate early response 3 interacting protein 1, pseudogene 1	gene	DOID:9004175	Microcephaly, Epilepsy, and Diabetes Syndrome 1		ISO	RGD:1352833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IER3IP1-related condition | ClinVar Annotator: match by term: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 1 | ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 1	PMID:21835305|PMID:22991235|PMID:23771172|PMID:24138066|PMID:25741868|PMID:28492532|PMID:28711742
1561569	Tmem69	transmembrane protein 69	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561569	Tmem69	transmembrane protein 69	gene	DOID:2394	ovarian cancer		ISO	RGD:1605680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1561569	Tmem69	transmembrane protein 69	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561571	Nckap5l	NCK-associated protein 5-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561571	Nckap5l	NCK-associated protein 5-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561571	Nckap5l	NCK-associated protein 5-like	gene	DOID:1324	lung cancer		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561571	Nckap5l	NCK-associated protein 5-like	gene	DOID:1909	melanoma		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561571	Nckap5l	NCK-associated protein 5-like	gene	DOID:3070	high grade glioma		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561571	Nckap5l	NCK-associated protein 5-like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561571	Nckap5l	NCK-associated protein 5-like	gene	DOID:4362	cervical cancer		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561571	Nckap5l	NCK-associated protein 5-like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561571	Nckap5l	NCK-associated protein 5-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605652	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561571	Nckap5l	NCK-associated protein 5-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561571	Nckap5l	NCK-associated protein 5-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561571	Nckap5l	NCK-associated protein 5-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561576	Zfyve19	zinc finger FYVE-type containing 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561576	Zfyve19	zinc finger FYVE-type containing 19	gene	DOID:10534	stomach cancer		ISO	RGD:1345411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561576	Zfyve19	zinc finger FYVE-type containing 19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561576	Zfyve19	zinc finger FYVE-type containing 19	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561576	Zfyve19	zinc finger FYVE-type containing 19	gene	DOID:3275	thymoma		ISO	RGD:1345411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561576	Zfyve19	zinc finger FYVE-type containing 19	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345411	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561576	Zfyve19	zinc finger FYVE-type containing 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561576	Zfyve19	zinc finger FYVE-type containing 19	gene	DOID:9002381	Progressive Familial Intrahepatic Cholestasis 9		ISO	RGD:1345411	D	RGD:7240710	20220518	OMIM			
1561576	Zfyve19	zinc finger FYVE-type containing 19	gene	DOID:9002381	Progressive Familial Intrahepatic Cholestasis 9		ISO	RGD:1345411	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 | ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9	PMID:25741868|PMID:32737136
1561576	Zfyve19	zinc finger FYVE-type containing 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561579	Zfp646	zinc finger protein 646	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561579	Zfp646	zinc finger protein 646	gene	DOID:1324	lung cancer		ISO	RGD:1351485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561579	Zfp646	zinc finger protein 646	gene	DOID:4362	cervical cancer		ISO	RGD:1351485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561579	Zfp646	zinc finger protein 646	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561579	Zfp646	zinc finger protein 646	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561579	Zfp646	zinc finger protein 646	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561579	Zfp646	zinc finger protein 646	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603953	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:0060058	lymphoma		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:0070032	autosomal dominant intellectual developmental disorder 2		ISO	RGD:1603953	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 2	PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:0080545	hyper IgE syndrome		ISO	RGD:1603953	D	RGD:11554173	20190305	CTD		CTD Direct Evidence: marker/mechanism	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:0080545	hyper IgE syndrome		ISO	RGD:1603953	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-Immunoglobulin E Syndrome, Autosomal Recessive	PMID:14722525|PMID:19776401|PMID:24033266|PMID:25167861|PMID:25741868|PMID:27379089|PMID:28492532|PMID:32888943|PMID:35753512
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:0080594	hyper IgE recurrent infection syndrome 2		ISO	RGD:1603953	D	RGD:40907054|PMID:21763205	20210112	RGD		DNA:mutation:cds:	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:0080594	hyper IgE recurrent infection syndrome 2		ISO	RGD:1603953	D	RGD:7240710	20190227	OMIM			
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:0080594	hyper IgE recurrent infection syndrome 2		ISO	RGD:1603953	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS	PMID:14722525|PMID:16199547|PMID:16391785|PMID:17576681|PMID:18060736|PMID:19776401|PMID:20004785|PMID:20226292|PMID:20622910|PMID:21324546|PMID:22006977|PMID:22476911|PMID:22534316|PMID:23380217|PMID:23859592|PMID:24033266|PMID:24418481|PMID:24673638|PMID:24797421|PMID:25167861|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26573532|PMID:26659092|PMID:26680607|PMID:26744459|PMID:27379089|PMID:27398204|PMID:27457812|PMID:27872624|PMID:27890707|PMID:27980540|PMID:28070732|PMID:28191889|PMID:28492532|PMID:28750028|PMID:29058101|PMID:29483666|PMID:29867916|PMID:30425284|PMID:30564305|PMID:30697212|PMID:31242861|PMID:31596517|PMID:31980526|PMID:32108967|PMID:32135276|PMID:32531373|PMID:32888943|PMID:33251169|PMID:33290277|PMID:33587123|PMID:33809641|PMID:34093558|PMID:34662886|PMID:35753512|PMID:9536098
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:0080594	hyper IgE recurrent infection syndrome 2		ISO	RGD:1603953	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS	PMID:14722525|PMID:17576681|PMID:19776401|PMID:20004785|PMID:23380217|PMID:24033266|PMID:25167861|PMID:25741868|PMID:27379089|PMID:27890707|PMID:28070732|PMID:28492532|PMID:32888943|PMID:35753512|PMID:39415980|PMID:9536098
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:0080595	autosomal recessive hyper-IgE syndrome 3 with recurrent infections		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HYPER-IgE SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive	PMID:14722525|PMID:16199547|PMID:17576681|PMID:19776401|PMID:20004785|PMID:22006977|PMID:24673638|PMID:24797421|PMID:25167861|PMID:25640679|PMID:25741868|PMID:26659092|PMID:27379089|PMID:28492532|PMID:31596517|PMID:32108967|PMID:33251169|PMID:9536098
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		ISO	RGD:1603953	D	RGD:40886273|PMID:29058101	20201203	RGD		DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human)	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1603953	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:104	bacterial infectious disease	susceptibility	ISO	RGD:1603953	D	RGD:40886274|PMID:25724123	20201203	RGD		DNA:mutations: :	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:10534	stomach cancer		ISO	RGD:1603953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:1059	intellectual disability		ISO	RGD:1603953	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18060736
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:1059	intellectual disability		ISO	RGD:1603953	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:14722525|PMID:16199547|PMID:18060736|PMID:19776401|PMID:24033266|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26744459|PMID:28492532|PMID:29867916|PMID:31596517|PMID:31980526|PMID:37592284
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:1059	intellectual disability		ISO	RGD:1603953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532|PMID:29867916|PMID:31596517
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:1059	intellectual disability		ISO	RGD:1603953	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:27872624|PMID:28492532|PMID:32662942|PMID:33365035
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:1115	sarcoma		ISO	RGD:1603953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:11162	respiratory failure		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:12849	autistic disorder		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:1324	lung cancer		ISO	RGD:1603953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:13250	diarrhea		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:14262	oral candidiasis		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oral candidiasis	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:14268	sclerosing cholangitis		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sclerosing cholangitis	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:1909	melanoma		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:1969	cerebral palsy		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:1603953	D	RGD:40903057|PMID:32297155	20210107	RGD		DNA:SNP::rs506121(human)	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:2355	anemia		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:2394	ovarian cancer		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:2841	asthma		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:14722525|PMID:19776401|PMID:24033266|PMID:24797421|PMID:25741868|PMID:26680607|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:3044	food allergy		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: food allergy	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:3275	thymoma		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:3310	atopic dermatitis		ISO	RGD:1603953	D	RGD:40903056|PMID:22476911	20210107	RGD		DNA:mutations:cds:	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:3310	atopic dermatitis		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:4362	cervical cancer		ISO	RGD:1603953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:24033266|PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1603953	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:552	pneumonia		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:14722525|PMID:16199547|PMID:19776401|PMID:25741868|PMID:28492532|PMID:33854233|PMID:39098944
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1603953	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:614	lymphopenia		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphopenia	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1603953	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:14722525|PMID:19776401|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:630	genetic disease		ISO	RGD:1603953	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29682684|PMID:35753512
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:6543	acne		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:687	hepatoblastoma		ISO	RGD:1603953	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:718	autoimmune hemolytic anemia		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune hemolytic anemia	PMID:25741868
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:720	normocytic anemia		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Normocytic anemia	PMID:25167861|PMID:27379089|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:769	neuroblastoma		ISO	RGD:1603953	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:848	arthritis		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:25167861|PMID:27379089|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:8566	herpes simplex	severity	ISO	RGD:1317066	D	RGD:11055046|PMID:25776845	20210107	RGD			
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:8741	seborrheic dermatitis		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seborrheic dermatitis	PMID:25741868
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:8778	Crohn's disease		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Crohn disease	PMID:25167861|PMID:27379089|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune thrombocytopenia	PMID:25741868
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9000197	Edema		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	PMID:25741868
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9000727	Syncope		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute otitis media	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9001733	Tinnitus		ISO	RGD:1603953	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9002801	Recurrence		ISO	RGD:1603953	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Crackles	PMID:25741868
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9003507	Premature Birth		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9003539	Hyperacusis		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9003824	Infectious Encephalitis		ISO	RGD:1603953	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Infectious encephalitis	PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603953	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9005077	Joint Instability		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9005736	Pallor		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pallor	PMID:25741868
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9006065	Arthralgia		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25167861|PMID:27379089|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:14722525|PMID:16199547|PMID:19776401|PMID:26235511|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9007073	Cough		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cough	PMID:25741868
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9007356	Eczema		ISO	RGD:1603953	D	RGD:40902960|PMID:22534316	20201217	RGD		DNA:mutations: :	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9007736	Vertigo		ISO	RGD:1603953	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603953	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18060736
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9008811	Tachypnea		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:934	viral infectious disease	susceptibility	ISO	RGD:1603953	D	RGD:40886274|PMID:25724123	20201203	RGD		DNA:mutations: :	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9471	meningitis		ISO	RGD:1603953	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Meningitis	PMID:25741868|PMID:28492532
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9563	bronchiectasis		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9744	type 1 diabetes mellitus		IAGP		D	RGD:11532657|PMID:26363782	20181206	RGD			
1561588	Dock8	dedicator of cytokinesis 8	gene	DOID:9834	hyperopia		ISO	RGD:1603953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1561596	Ccdc120	coiled-coil domain containing 120	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561596	Ccdc120	coiled-coil domain containing 120	gene	DOID:10534	stomach cancer		ISO	RGD:1606197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561596	Ccdc120	coiled-coil domain containing 120	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561596	Ccdc120	coiled-coil domain containing 120	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561596	Ccdc120	coiled-coil domain containing 120	gene	DOID:9007661	Dwarfism		ISO	RGD:1606197	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1561596	Ccdc120	coiled-coil domain containing 120	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561596	Ccdc120	coiled-coil domain containing 120	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1351170	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1561597	Mga	MAX dimerization protein MGA	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1351170	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413735
1561597	Mga	MAX dimerization protein MGA	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1351170	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192917
1561597	Mga	MAX dimerization protein MGA	gene	DOID:10534	stomach cancer		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:1115	sarcoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23039309|PMID:34236315|PMID:35101336
1561597	Mga	MAX dimerization protein MGA	gene	DOID:1909	melanoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:3275	thymoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:4362	cervical cancer		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:5041	esophageal cancer		ISO	RGD:1351170	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351170	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1561597	Mga	MAX dimerization protein MGA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:9009279	Premature Ovarian Failure 26		ISO	RGD:1351170	D	RGD:7240710	20250122	OMIM			
1561597	Mga	MAX dimerization protein MGA	gene	DOID:9009279	Premature Ovarian Failure 26		ISO	RGD:1351170	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 26	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:9256	colorectal cancer		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	
1561597	Mga	MAX dimerization protein MGA	gene	DOID:9538	multiple myeloma		ISO	RGD:1351170	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1561599	Cers6	ceramide synthase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561599	Cers6	ceramide synthase 6	gene	DOID:0080600	COVID-19		ISO	RGD:1343383	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1561599	Cers6	ceramide synthase 6	gene	DOID:1115	sarcoma		ISO	RGD:1343383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561599	Cers6	ceramide synthase 6	gene	DOID:1909	melanoma		ISO	RGD:1343383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561599	Cers6	ceramide synthase 6	gene	DOID:303	substance-related disorder		ISO	RGD:1343383	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1561599	Cers6	ceramide synthase 6	gene	DOID:3275	thymoma		ISO	RGD:1343383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561599	Cers6	ceramide synthase 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561599	Cers6	ceramide synthase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561599	Cers6	ceramide synthase 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561600	E2f3	E2F transcription factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561600	E2f3	E2F transcription factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561600	E2f3	E2F transcription factor 3	gene	DOID:10283	prostate cancer		ISO	RGD:1320122	D	RGD:13504717|PMID:25017995	20180118	RGD			
1561600	E2f3	E2F transcription factor 3	gene	DOID:10283	prostate cancer		ISO	RGD:1320122	D	RGD:13504729|PMID:17701752	20180119	RGD			
1561600	E2f3	E2F transcription factor 3	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1320122	D	RGD:13504730|PMID:15184867	20180119	RGD			
1561600	E2f3	E2F transcription factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1320122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561600	E2f3	E2F transcription factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1320122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561600	E2f3	E2F transcription factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1320122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561600	E2f3	E2F transcription factor 3	gene	DOID:1909	melanoma		ISO	RGD:1320122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561600	E2f3	E2F transcription factor 3	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:1320122	D	RGD:13702470|PMID:28337965	20180718	RGD			
1561600	E2f3	E2F transcription factor 3	gene	DOID:3275	thymoma		ISO	RGD:1320122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561600	E2f3	E2F transcription factor 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320122	D	RGD:13464341|PMID:16938365	20180104	RGD			
1561600	E2f3	E2F transcription factor 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1320122	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29754146
1561600	E2f3	E2F transcription factor 3	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1320122	D	RGD:13464345|PMID:27557513	20180104	RGD		DNA:SNP: :rs3806116 (human)	
1561600	E2f3	E2F transcription factor 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1320122	D	RGD:13464341|PMID:16938365	20180104	RGD			
1561600	E2f3	E2F transcription factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1320122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561600	E2f3	E2F transcription factor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320122	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561600	E2f3	E2F transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561600	E2f3	E2F transcription factor 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320122	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1561601	Gp9	glycoprotein IX (platelet)	gene	DOID:1247	blood coagulation disease		ISO	RGD:1351167	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bleeding and platelet disorders	PMID:11167791|PMID:21173099|PMID:21699652|PMID:23402648|PMID:25741868|PMID:28492532|PMID:32581362
1561601	Gp9	glycoprotein IX (platelet)	gene	DOID:1588	thrombocytopenia		ISO	RGD:1351167	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15225244
1561601	Gp9	glycoprotein IX (platelet)	gene	DOID:1588	thrombocytopenia		ISO	RGD:1351167	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: thrombocytopenia	
1561601	Gp9	glycoprotein IX (platelet)	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1351167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:34355501
1561601	Gp9	glycoprotein IX (platelet)	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1351167	D	RGD:11040531|PMID:8972003	20160309	RGD		DNA:mutation:cds:p.C73Y(human)	
1561601	Gp9	glycoprotein IX (platelet)	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1351167	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561601	Gp9	glycoprotein IX (platelet)	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1351167	D	RGD:7240710	20130221	OMIM			
1561601	Gp9	glycoprotein IX (platelet)	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1351167	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Bernard-Soulier syndrome | ClinVar Annotator: match by term: GP9-related condition | ClinVar Annotator: match by term: Platelet Glycoprotein 1b, Deficiency of	PMID:15351858|PMID:21173099|PMID:21699652|PMID:25539746|PMID:25741868|PMID:28395735|PMID:28492532|PMID:29636940|PMID:31064749|PMID:34355501|PMID:35349645|PMID:8772211|PMID:9163595|PMID:9432024
1561601	Gp9	glycoprotein IX (platelet)	gene	DOID:2217	Bernard-Soulier syndrome	severity	ISO	RGD:1351167	D	RGD:13464128|PMID:28131619	20171222	RGD		DNA:missense mutation:cds:c.182A>G(p.N61S)(human)	
1561601	Gp9	glycoprotein IX (platelet)	gene	DOID:630	genetic disease		ISO	RGD:1351167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1561601	Gp9	glycoprotein IX (platelet)	gene	DOID:9001316	Bernard-Soulier Syndrome, Type C		ISO	RGD:1351167	D	RGD:1599275|PMID:8481514	20070126	RGD		DNA:missense mutations:cds:p.D21G, p.N45S (human)	
1561601	Gp9	glycoprotein IX (platelet)	gene	DOID:9001316	Bernard-Soulier Syndrome, Type C		ISO	RGD:1351167	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BERNARD-SOULIER SYNDROME, TYPE C | ClinVar Annotator: match by term: Bernard-Soulier syndrome type C	PMID:12100158|PMID:21173099|PMID:21699652|PMID:25539746|PMID:25741868|PMID:28395735|PMID:28492532|PMID:29636940|PMID:31064749|PMID:34355501|PMID:9163595|PMID:9432024
1561601	Gp9	glycoprotein IX (platelet)	gene	DOID:9005876	Thrombocytopenic Purpura		ISO	RGD:1351167	D	RGD:11040532|PMID:23103637	20160309	RGD			
1561601	Gp9	glycoprotein IX (platelet)	gene	DOID:9008217	Hemorrhage		ISO	RGD:1351167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: bleeding	PMID:25539746
1561602	Nlk	nemo like kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561602	Nlk	nemo like kinase	gene	DOID:1115	sarcoma		ISO	RGD:1321854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561602	Nlk	nemo like kinase	gene	DOID:1909	melanoma		ISO	RGD:1321854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561602	Nlk	nemo like kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561602	Nlk	nemo like kinase	gene	DOID:5844	myocardial infarction		IEP		D	RGD:242905213|PMID:26861724	20230328	RGD		mRNA, protein:decreased expression:heart	
1561602	Nlk	nemo like kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561602	Nlk	nemo like kinase	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:12791278|PMID:24395089	20170303	RGD		protein:increased expression:grey matter:	
1561602	Nlk	nemo like kinase	gene	DOID:9000438	Subarachnoid Hemorrhage	disease_progression	IEP		D	RGD:12791279|PMID:23325309	20170303	RGD			
1561602	Nlk	nemo like kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561602	Nlk	nemo like kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561603	Zfp467	zinc finger protein 467	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561603	Zfp467	zinc finger protein 467	gene	DOID:0060058	lymphoma		ISO	RGD:1350118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1561603	Zfp467	zinc finger protein 467	gene	DOID:4362	cervical cancer		ISO	RGD:1350118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561603	Zfp467	zinc finger protein 467	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561605	Tada2b	transcriptional adaptor 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2979550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561605	Tada2b	transcriptional adaptor 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2979550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1603548	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 1	PMID:20498079|PMID:22025579|PMID:25741868|PMID:28492532|PMID:31196119
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:0110134	Bardet-Biedl syndrome 12		ISO	RGD:1603548	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:0110134	Bardet-Biedl syndrome 12		ISO	RGD:1603548	D	RGD:7240710	20171011	OMIM			
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:0110134	Bardet-Biedl syndrome 12		ISO	RGD:1603548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 12 | ClinVar Annotator: match by term: BBS12-related ciliopathy | ClinVar Annotator: match by term: BBS12-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 12 | ClinVar Annotator: match by term: Bardet-Biedl syndrome type 12	PMID:17160889|PMID:20080638|PMID:20120035|PMID:20142850|PMID:20472660|PMID:20498079|PMID:20648243|PMID:20827784|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21258341|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22410627|PMID:22773737|PMID:23591405|PMID:24416769|PMID:24611592|PMID:25133751|PMID:25170860|PMID:25741868|PMID:25780760|PMID:25982971|PMID:26082521|PMID:26489029|PMID:27659767|PMID:27708425|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28492532|PMID:30614526|PMID:30718709|PMID:31047384|PMID:31196119|PMID:31589614|PMID:31888296|PMID:31964843|PMID:32448990|PMID:32531858|PMID:33046855|PMID:33419754|PMID:33532864|PMID:33964006|PMID:34426522|PMID:34906515|PMID:35835773|PMID:35886001|PMID:35912300|PMID:36281451|PMID:36384733|PMID:36574078|PMID:36907537|PMID:37031301|PMID:37469681|PMID:37798099|PMID:38674450|PMID:38972501|PMID:39092430
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1603548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:30718709
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:1826	epilepsy		ISO	RGD:1603548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20827784|PMID:21642631|PMID:25741868|PMID:28492532|PMID:30614526|PMID:34906515|PMID:36281451|PMID:39092430
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1603548	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:17160889|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20142850|PMID:20472660|PMID:20498079|PMID:20648243|PMID:20827784|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22410627|PMID:22773737|PMID:23591405|PMID:24416769|PMID:24611592|PMID:25133751|PMID:25170860|PMID:25741868|PMID:25780760|PMID:25982971|PMID:26082521|PMID:26489029|PMID:27004616|PMID:27659767|PMID:27708425|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28912962|PMID:30614526|PMID:30718709|PMID:31047384|PMID:31196119|PMID:31589614|PMID:31888296|PMID:31964843|PMID:32448990|PMID:32531858|PMID:33046855|PMID:33532864|PMID:33964006|PMID:34426522|PMID:34448047|PMID:35835773|PMID:35836572|PMID:35886001|PMID:35912300|PMID:37431782|PMID:38674450
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1603548	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:17160889|PMID:19797195|PMID:20120035|PMID:20472660|PMID:20498079|PMID:20648243|PMID:20827784|PMID:21642631|PMID:22025579|PMID:23591405|PMID:25741868|PMID:27659767|PMID:27708425|PMID:28492532|PMID:30614526|PMID:31196119|PMID:31888296|PMID:34448047|PMID:34906515|PMID:35836572|PMID:36281451|PMID:37431782|PMID:38674450|PMID:39092430
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:3275	thymoma		ISO	RGD:1603548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1603548	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:630	genetic disease		ISO	RGD:1603548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:8501	fundus dystrophy		ISO	RGD:1603548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17160889|PMID:20080638|PMID:20498079|PMID:25741868|PMID:28492532
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:9002189	High Myopia		ISO	RGD:1603548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Severe Myopia	PMID:17160889|PMID:23591405|PMID:25741868|PMID:28492532|PMID:30614526|PMID:32531858
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1603548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:20827784|PMID:21642631|PMID:25741868|PMID:28492532|PMID:30614526|PMID:34906515|PMID:36281451|PMID:39092430
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20827784|PMID:21642631|PMID:25741868|PMID:28492532|PMID:30614526|PMID:34906515|PMID:36281451|PMID:39092430
1561608	Bbs12	Bardet-Biedl syndrome 12	gene	DOID:9970	obesity		ISO	RGD:1603548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:20827784|PMID:21642631|PMID:25741868|PMID:28492532|PMID:30614526|PMID:34906515|PMID:36281451|PMID:39092430
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1345136	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome 1	
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:1115	sarcoma		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:1324	lung cancer		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:1909	melanoma		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1345136	D	RGD:7248544|PMID:19470471	20130807	RGD			
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345136	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:9005905	Type 2 Diabetes Mellitus 5		ISO	RGD:1345136	D	RGD:7240710	20170308	OMIM			
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:9005905	Type 2 Diabetes Mellitus 5		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, 5 | ClinVar Annotator: match by term: TBC1D4-related condition	PMID:25741868
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:9006828	Congenital Hyperinsulinism		ISO	RGD:1345136	D	RGD:7248544|PMID:19470471	20130807	RGD			
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1345136	D	RGD:8554872	20190312	ClinVar		ClinVar Annotator: match by term: Insulin resistance	
1561609	Tbc1d4	TBC1 domain family, member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561612	Pgcka1	PDCD10 and GCKIII kinases associated 1	gene	DOID:13580	cholestasis		ISO	RGD:1602474	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
1561623	Thoc2	THO complex subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561623	Thoc2	THO complex subunit 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1561623	Thoc2	THO complex subunit 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: dysmorphic features	PMID:25741868
1561623	Thoc2	THO complex subunit 2	gene	DOID:0061092	immunodeficiency 127		ISO	RGD:1353819	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 127	
1561623	Thoc2	THO complex subunit 2	gene	DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome		ISO	RGD:1353819	D	RGD:7240710	20170510	OMIM			
1561623	Thoc2	THO complex subunit 2	gene	DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome		ISO	RGD:1353819	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12 | ClinVar Annotator: match by term: THOC2-related condition | ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome	PMID:25741868|PMID:26166480|PMID:28492532|PMID:29851191|PMID:32116545|PMID:32960281
1561623	Thoc2	THO complex subunit 2	gene	DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome		ISS	RGD:1614044	D	RGD:13592920	20240905	MouseDO		OMIM:300957	
1561623	Thoc2	THO complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561623	Thoc2	THO complex subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:1353819	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1561623	Thoc2	THO complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561623	Thoc2	THO complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561623	Thoc2	THO complex subunit 2	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	
1561623	Thoc2	THO complex subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868
1561623	Thoc2	THO complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561623	Thoc2	THO complex subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561623	Thoc2	THO complex subunit 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561623	Thoc2	THO complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561623	Thoc2	THO complex subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561623	Thoc2	THO complex subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1353819	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561623	Thoc2	THO complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561623	Thoc2	THO complex subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1353819	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:29851191|PMID:32116545|PMID:32960281
1561623	Thoc2	THO complex subunit 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353819	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1561623	Thoc2	THO complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561623	Thoc2	THO complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561623	Thoc2	THO complex subunit 2	gene	DOID:9009090	arthrogryposis multiplex congenita-7, X-linked		ISO	RGD:1353819	D	RGD:7240710	20241023	OMIM			
1561623	Thoc2	THO complex subunit 2	gene	DOID:9009090	arthrogryposis multiplex congenita-7, X-linked		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 7, X-linked	PMID:25741868|PMID:34976470
1561623	Thoc2	THO complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561623	Thoc2	THO complex subunit 2	gene	DOID:9970	obesity		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:1115	sarcoma		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:1324	lung cancer		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:1909	melanoma		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:3275	thymoma		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1321047	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561626	Tbc1d5	TBC1 domain family, member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561629	Armcx1	armadillo repeat containing, X-linked 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561629	Armcx1	armadillo repeat containing, X-linked 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561629	Armcx1	armadillo repeat containing, X-linked 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1345943	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1561629	Armcx1	armadillo repeat containing, X-linked 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561629	Armcx1	armadillo repeat containing, X-linked 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561632	Il25	interleukin 25	gene	DOID:10808	gastric ulcer	treatment	IEP		D	RGD:40902976|PMID:26054198	20201218	RGD			
1561632	Il25	interleukin 25	gene	DOID:1580	diffuse scleroderma	severity	ISO	RGD:1344819	D	RGD:631734365|PMID:32686186	20260127	RGD		protein:increased espression:blood, serum	
1561632	Il25	interleukin 25	gene	DOID:2841	asthma		ISO	RGD:1557614	D	RGD:39128256|PMID:25273095	20201218	RGD		mRNA, protein:increased expression:lung	
1561632	Il25	interleukin 25	gene	DOID:3310	atopic dermatitis		ISO	RGD:1344819	D	RGD:39128244|PMID:23657503	20201217	RGD		protein:increased expression:arm skin	
1561632	Il25	interleukin 25	gene	DOID:4481	allergic rhinitis		ISO	RGD:1344819	D	RGD:632518407|PMID:19968632	20260213	RGD		protein:increased expression:respiratory system fluid/secretion	
1561632	Il25	interleukin 25	gene	DOID:8893	psoriasis		ISO	RGD:1344819	D	RGD:39128244|PMID:23657503	20201217	RGD		protein:increased expression:arm skin	
1561632	Il25	interleukin 25	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:1557614	D	RGD:39456129|PMID:19118508	20201218	RGD			
1561632	Il25	interleukin 25	gene	DOID:9000917	Amoebic Dysentery due to Entamoeba Histolytica		ISO	RGD:1557614|RGD:1344819	D	RGD:39128243|PMID:28246365	20201217	RGD		protein:decreased expression:intestine	
1561632	Il25	interleukin 25	gene	DOID:9003470	Picornaviridae Infections		ISO	RGD:1344819	D	RGD:39128256|PMID:25273095	20201218	RGD		protein:increased expression:nasal mucus	
1561632	Il25	interleukin 25	gene	DOID:9003470	Picornaviridae Infections		ISO	RGD:1557614	D	RGD:39128256|PMID:25273095	20201218	RGD		mRNA, protein:increased expression:lung	
1561632	Il25	interleukin 25	gene	DOID:9009419	digital ulcer		ISO	RGD:1344819	D	RGD:631734365|PMID:32686186	20260210	RGD		associated with systemic scleroderma;protein:increased expression:blood serum	
1561632	Il25	interleukin 25	gene	DOID:9415	allergic asthma	treatment	ISO	RGD:1557614	D	RGD:40902975|PMID:17889290	20201218	RGD			
1561642	Reps2	RALBP1 associated Eps domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561642	Reps2	RALBP1 associated Eps domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561642	Reps2	RALBP1 associated Eps domain containing 2	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1347143	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:25741868
1561642	Reps2	RALBP1 associated Eps domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561642	Reps2	RALBP1 associated Eps domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1347143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561642	Reps2	RALBP1 associated Eps domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1347143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561642	Reps2	RALBP1 associated Eps domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561642	Reps2	RALBP1 associated Eps domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561642	Reps2	RALBP1 associated Eps domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561642	Reps2	RALBP1 associated Eps domain containing 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1347143	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19776672
1561642	Reps2	RALBP1 associated Eps domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561646	Garin4	golgi associated RAB2 interactor family member 4	gene	DOID:13501	Moebius syndrome		ISO	RGD:1606700	D	RGD:8554872	20161011	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	
1561648	C7h12orf56	similar to human chromosome 12 open reading frame 56	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561648	C7h12orf56	similar to human chromosome 12 open reading frame 56	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561648	C7h12orf56	similar to human chromosome 12 open reading frame 56	gene	DOID:1909	melanoma		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561648	C7h12orf56	similar to human chromosome 12 open reading frame 56	gene	DOID:3070	high grade glioma		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561648	C7h12orf56	similar to human chromosome 12 open reading frame 56	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561648	C7h12orf56	similar to human chromosome 12 open reading frame 56	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561648	C7h12orf56	similar to human chromosome 12 open reading frame 56	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561648	C7h12orf56	similar to human chromosome 12 open reading frame 56	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561648	C7h12orf56	similar to human chromosome 12 open reading frame 56	gene	DOID:9256	colorectal cancer		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561649	Dlec1	DLEC1 cilia and flagella associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1604836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561649	Dlec1	DLEC1 cilia and flagella associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1604836	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1561649	Dlec1	DLEC1 cilia and flagella associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561649	Dlec1	DLEC1 cilia and flagella associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561649	Dlec1	DLEC1 cilia and flagella associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1561649	Dlec1	DLEC1 cilia and flagella associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561649	Dlec1	DLEC1 cilia and flagella associated protein	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1604836	D	RGD:11252164|PMID:27168825	20160627	RGD		DNA:hypermethylation:promoter:	
1561651	Zfp609	zinc finger protein 609	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349333	D	RGD:11554173	20230404	CTD		CTD Direct Evidence: marker/mechanism	PMID:35567596
1561651	Zfp609	zinc finger protein 609	gene	DOID:1324	lung cancer		ISO	RGD:1349333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561651	Zfp609	zinc finger protein 609	gene	DOID:1909	melanoma		ISO	RGD:1349333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561651	Zfp609	zinc finger protein 609	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561651	Zfp609	zinc finger protein 609	gene	DOID:4362	cervical cancer		ISO	RGD:1349333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561651	Zfp609	zinc finger protein 609	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561651	Zfp609	zinc finger protein 609	gene	DOID:5041	esophageal cancer		ISO	RGD:1349333	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561651	Zfp609	zinc finger protein 609	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561651	Zfp609	zinc finger protein 609	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561652	Osbpl10	oxysterol binding protein-like 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561652	Osbpl10	oxysterol binding protein-like 10	gene	DOID:1115	sarcoma		ISO	RGD:1350183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561652	Osbpl10	oxysterol binding protein-like 10	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1350183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1561652	Osbpl10	oxysterol binding protein-like 10	gene	DOID:4362	cervical cancer		ISO	RGD:1350183	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561652	Osbpl10	oxysterol binding protein-like 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561652	Osbpl10	oxysterol binding protein-like 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561652	Osbpl10	oxysterol binding protein-like 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561652	Osbpl10	oxysterol binding protein-like 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:39879987
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1350415	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: intellectual disability	PMID:25741868
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:1909	melanoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:39879987
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:3275	thymoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350415	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:39879987
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350415	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561653	Hectd1	HECT domain E3 ubiquitin protein ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult	
1561662	C9h6orf132	similar to human chromosome 6 open reading frame 132	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561662	C9h6orf132	similar to human chromosome 6 open reading frame 132	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561664	Tusc2	tumor suppressor 2, mitochondrial calcium regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1343391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561664	Tusc2	tumor suppressor 2, mitochondrial calcium regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561664	Tusc2	tumor suppressor 2, mitochondrial calcium regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561664	Tusc2	tumor suppressor 2, mitochondrial calcium regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561665	Tbata	thymus, brain and testes associated	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1322498	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
1561665	Tbata	thymus, brain and testes associated	gene	DOID:1115	sarcoma		ISO	RGD:1322498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561665	Tbata	thymus, brain and testes associated	gene	DOID:3275	thymoma		ISO	RGD:1322498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1343059	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:1115	sarcoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:1324	lung cancer		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:1909	melanoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:3275	thymoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:4362	cervical cancer		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1343059	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:670	amphetamine abuse		ISO	RGD:1343059	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561668	Rapgef5	Rap guanine nucleotide exchange factor 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561672	Eml6	EMAP like 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561672	Eml6	EMAP like 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561672	Eml6	EMAP like 6	gene	DOID:0060058	lymphoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1561672	Eml6	EMAP like 6	gene	DOID:10126	keratoconus		ISO	RGD:2302327	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Keratoconus	
1561672	Eml6	EMAP like 6	gene	DOID:1115	sarcoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561672	Eml6	EMAP like 6	gene	DOID:3275	thymoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561672	Eml6	EMAP like 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561672	Eml6	EMAP like 6	gene	DOID:5041	esophageal cancer		ISO	RGD:2302327	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561672	Eml6	EMAP like 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561672	Eml6	EMAP like 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561672	Eml6	EMAP like 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1561672	Eml6	EMAP like 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561672	Eml6	EMAP like 6	gene	DOID:9002189	High Myopia		ISO	RGD:2302327	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:33729517|PMID:35081682|PMID:36543923
1561672	Eml6	EMAP like 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561672	Eml6	EMAP like 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2302327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561673	Ccdc125	coiled-coil domain containing 125	gene	DOID:0060058	lymphoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1561673	Ccdc125	coiled-coil domain containing 125	gene	DOID:1115	sarcoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561673	Ccdc125	coiled-coil domain containing 125	gene	DOID:1909	melanoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561673	Ccdc125	coiled-coil domain containing 125	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561673	Ccdc125	coiled-coil domain containing 125	gene	DOID:3275	thymoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561673	Ccdc125	coiled-coil domain containing 125	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561673	Ccdc125	coiled-coil domain containing 125	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561673	Ccdc125	coiled-coil domain containing 125	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561673	Ccdc125	coiled-coil domain containing 125	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561673	Ccdc125	coiled-coil domain containing 125	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561676	Klhdc4	kelch domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561676	Klhdc4	kelch domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561676	Klhdc4	kelch domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1322601	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561676	Klhdc4	kelch domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561676	Klhdc4	kelch domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561676	Klhdc4	kelch domain containing 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561676	Klhdc4	kelch domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561676	Klhdc4	kelch domain containing 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561676	Klhdc4	kelch domain containing 4	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1561676	Klhdc4	kelch domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561676	Klhdc4	kelch domain containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561676	Klhdc4	kelch domain containing 4	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1561676	Klhdc4	kelch domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561676	Klhdc4	kelch domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:23911319|PMID:25621899|PMID:25666757|PMID:25741868|PMID:27040985
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:1909	melanoma		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:3275	thymoma		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561678	Tenm1	teneurin transmembrane protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561685	Maco1	macoilin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561685	Maco1	macoilin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561685	Maco1	macoilin 1	gene	DOID:1324	lung cancer		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561685	Maco1	macoilin 1	gene	DOID:1909	melanoma		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561685	Maco1	macoilin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561685	Maco1	macoilin 1	gene	DOID:3275	thymoma		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561685	Maco1	macoilin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561685	Maco1	macoilin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605378	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561685	Maco1	macoilin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561685	Maco1	macoilin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561685	Maco1	macoilin 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:1605378	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19060911
1561685	Maco1	macoilin 1	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1605378	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19060911
1561685	Maco1	macoilin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561685	Maco1	macoilin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561687	Dach2	dachshund family transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561687	Dach2	dachshund family transcription factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561687	Dach2	dachshund family transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561687	Dach2	dachshund family transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561687	Dach2	dachshund family transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561687	Dach2	dachshund family transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343747	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:1115	sarcoma		ISO	RGD:1343747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:1324	lung cancer		ISO	RGD:1343747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:1909	melanoma		ISO	RGD:1343747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1615884	D	RGD:7488919|PMID:16297198	20131205	RGD			
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:3275	thymoma		ISO	RGD:1343747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:630	genetic disease		ISO	RGD:1343747	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:9007160	Idiopathic Basal Ganglia Calcification 8		ISO	RGD:1343747	D	RGD:7240710	20200408	OMIM			
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:9007160	Idiopathic Basal Ganglia Calcification 8		ISO	RGD:1343747	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE	PMID:25741868
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:9007546	Idiopathic Basal Ganglia Calcification 1		ISO	RGD:1343747	D	RGD:11554173	20251007	CTD		CTD Direct Evidence: marker/mechanism	
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561692	Jam2	junctional adhesion molecule 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561698	Tmprss11e	transmembrane serine protease 11E	gene	DOID:1324	lung cancer		ISO	RGD:1606302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561698	Tmprss11e	transmembrane serine protease 11E	gene	DOID:5041	esophageal cancer		ISO	RGD:1606302	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561698	Tmprss11e	transmembrane serine protease 11E	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868
1561698	Tmprss11e	transmembrane serine protease 11E	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1561698	Tmprss11e	transmembrane serine protease 11E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561698	Tmprss11e	transmembrane serine protease 11E	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561700	Cdc42se1	CDC42 small effector 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561700	Cdc42se1	CDC42 small effector 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561700	Cdc42se1	CDC42 small effector 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346360	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1561702	Ctag2	cancer/testis antigen 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561702	Ctag2	cancer/testis antigen 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561702	Ctag2	cancer/testis antigen 2	gene	DOID:1324	lung cancer		ISO	RGD:1344888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561702	Ctag2	cancer/testis antigen 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0060815	Wieacker-Wolff syndrome		ISO	RGD:1349237	D	RGD:11554173	20220208	CTD		CTD Direct Evidence: marker/mechanism	PMID:26056227
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0060815	Wieacker-Wolff syndrome		ISO	RGD:1349237	D	RGD:7240710	20180321	OMIM			
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0060815	Wieacker-Wolff syndrome		ISO	RGD:1349237	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Miles-Carpenter syndrome | ClinVar Annotator: match by term: WIEACKER-WOLFF SYNDROME | ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability | ClinVar Annotator: match by term: ZC4H2-related condition	PMID:17576681|PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972|PMID:32860008|PMID:33739554|PMID:36250278|PMID:38703036|PMID:39032379|PMID:9536098
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0061015	female-restricted Wieacker-Wolff syndrome		ISO	RGD:1349237	D	RGD:7240710	20200826	OMIM			
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0061015	female-restricted Wieacker-Wolff syndrome		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted	PMID:23623388|PMID:25741868|PMID:28492532|PMID:31206972
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0070297	primary microcephaly		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:0111827	X-linked spinal muscular atrophy 2		ISO	RGD:1349237	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:23623388
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:10376	amblyopia		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:1059	intellectual disability		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:10907	microcephaly		ISO	RGD:1349237	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:26056227
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:1115	sarcoma		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:11383	cryptorchidism		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:11782	astigmatism		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:11836	clubfoot		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:1657	ventricular septal defect		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:1826	epilepsy		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:1827	generalized epilepsy		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:28492532
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:2074	intestinal perforation		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal perforation	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:420	hypertrichosis		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:585	nephrolithiasis		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:630	genetic disease		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972|PMID:33739554
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:674	cleft palate		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:8488	polyhydramnios		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972|PMID:33739554
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9005077	Joint Instability		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:31206972
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9005616	Micrognathism		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9007661	Dwarfism		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:936	brain disease		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile encephalopathy	PMID:28492532
1561708	Zc4h2	zinc finger C4H2-type containing	gene	DOID:9840	esotropia		ISO	RGD:1349237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
1561711	Bri3bp	Bri3 binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561711	Bri3bp	Bri3 binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561711	Bri3bp	Bri3 binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561711	Bri3bp	Bri3 binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561714	Edar	ectodysplasin-A receptor	gene	DOID:0111663	ectodermal dysplasia 10A		ISO	RGD:1344202	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561714	Edar	ectodysplasin-A receptor	gene	DOID:0111663	ectodermal dysplasia 10A		ISO	RGD:1344202	D	RGD:1598883|PMID:10431241	20061220	RGD			
1561714	Edar	ectodysplasin-A receptor	gene	DOID:0111663	ectodermal dysplasia 10A		ISO	RGD:1344202	D	RGD:7240710	20130221	OMIM			
1561714	Edar	ectodysplasin-A receptor	gene	DOID:0111665	ectodermal dysplasia 10B		ISO	RGD:1344202	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561714	Edar	ectodysplasin-A receptor	gene	DOID:0111665	ectodermal dysplasia 10B		ISO	RGD:1344202	D	RGD:7240710	20130221	OMIM			
1561714	Edar	ectodysplasin-A receptor	gene	DOID:0111665	ectodermal dysplasia 10B		ISO	RGD:1344202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	PMID:28492532|PMID:32325225
1561714	Edar	ectodysplasin-A receptor	gene	DOID:10754	otitis media	treatment	ISO	RGD:1557662	D	RGD:14398763|PMID:31028034	20190430	RGD			
1561714	Edar	ectodysplasin-A receptor	gene	DOID:13714	anodontia		ISO	RGD:1344202	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Non-syndromic oligodontia	PMID:10431241|PMID:17125505|PMID:18065779|PMID:18561327|PMID:18704500|PMID:24884697|PMID:25741868|PMID:26336973|PMID:27305980|PMID:28492532
1561714	Edar	ectodysplasin-A receptor	gene	DOID:14793	hypohidrotic ectodermal dysplasia		ISS	RGD:1557662	D	RGD:13592920	20180518	MouseDO		OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100	
1561714	Edar	ectodysplasin-A receptor	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1344202	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant	PMID:16435307|PMID:18065779|PMID:18561327|PMID:18704500|PMID:18816645|PMID:23210707|PMID:24033266|PMID:25741868|PMID:28492532
1561716	Mfsd2b	MFSD2 lysolipid transporter B, sphingolipid	gene	DOID:10534	stomach cancer		ISO	RGD:3476989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561716	Mfsd2b	MFSD2 lysolipid transporter B, sphingolipid	gene	DOID:5041	esophageal cancer		ISO	RGD:3476989	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:10534	stomach cancer		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:1115	sarcoma		ISO	RGD:1348822	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:1324	lung cancer		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:3070	high grade glioma		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:3275	thymoma		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:4362	cervical cancer		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:5041	esophageal cancer		ISO	RGD:1348822	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561719	Atp11b	ATPase phospholipid transporting 11B (putative)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1350295	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:20346443|PMID:25741868|PMID:31388105|PMID:32009906
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:10534	stomach cancer		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:1115	sarcoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:12849	autistic disorder		ISO	RGD:1350295	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19401682
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:1324	lung cancer		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:3070	high grade glioma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:3275	thymoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:4362	cervical cancer		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1350295	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:38526744
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561724	Dock4	dedicator of cytokinesis 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561726	Lrrc55	leucine rich repeat containing 55	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561726	Lrrc55	leucine rich repeat containing 55	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603880	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561727	Proca1	protein interacting with cyclin A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561727	Proca1	protein interacting with cyclin A1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561727	Proca1	protein interacting with cyclin A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561727	Proca1	protein interacting with cyclin A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561727	Proca1	protein interacting with cyclin A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561737	Rnf144a	ring finger protein 144A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561737	Rnf144a	ring finger protein 144A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561737	Rnf144a	ring finger protein 144A	gene	DOID:10534	stomach cancer		ISO	RGD:1343789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561737	Rnf144a	ring finger protein 144A	gene	DOID:1115	sarcoma		ISO	RGD:1343789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561737	Rnf144a	ring finger protein 144A	gene	DOID:1909	melanoma		ISO	RGD:1343789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561737	Rnf144a	ring finger protein 144A	gene	DOID:4362	cervical cancer		ISO	RGD:1343789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561737	Rnf144a	ring finger protein 144A	gene	DOID:5041	esophageal cancer		ISO	RGD:1343789	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561737	Rnf144a	ring finger protein 144A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561737	Rnf144a	ring finger protein 144A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561737	Rnf144a	ring finger protein 144A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561737	Rnf144a	ring finger protein 144A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561739	Herc6	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561739	Herc6	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	gene	DOID:1115	sarcoma		ISO	RGD:1348683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561739	Herc6	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	gene	DOID:1324	lung cancer		ISO	RGD:1348683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561739	Herc6	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561739	Herc6	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561739	Herc6	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	gene	DOID:9001488	Human Influenza		ISO	RGD:1348683	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1561739	Herc6	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561739	Herc6	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561740	Kif18a	kinesin family member 18A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561740	Kif18a	kinesin family member 18A	gene	DOID:10534	stomach cancer		ISO	RGD:1352766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561740	Kif18a	kinesin family member 18A	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1352766	D	RGD:11554202|PMID:27215532	20161025	RGD			
1561740	Kif18a	kinesin family member 18A	gene	DOID:1115	sarcoma		ISO	RGD:1352766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561740	Kif18a	kinesin family member 18A	gene	DOID:1324	lung cancer		ISO	RGD:1352766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561740	Kif18a	kinesin family member 18A	gene	DOID:1909	melanoma		ISO	RGD:1352766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561740	Kif18a	kinesin family member 18A	gene	DOID:3275	thymoma		ISO	RGD:1352766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561740	Kif18a	kinesin family member 18A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561740	Kif18a	kinesin family member 18A	gene	DOID:4362	cervical cancer		ISO	RGD:1352766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561740	Kif18a	kinesin family member 18A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561740	Kif18a	kinesin family member 18A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352766	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1561740	Kif18a	kinesin family member 18A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561740	Kif18a	kinesin family member 18A	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1352766	D	RGD:11554203|PMID:21213216	20161025	RGD			
1561742	Stk24	serine/threonine kinase 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561742	Stk24	serine/threonine kinase 24	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561742	Stk24	serine/threonine kinase 24	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561742	Stk24	serine/threonine kinase 24	gene	DOID:4362	cervical cancer		ISO	RGD:1345827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561742	Stk24	serine/threonine kinase 24	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561742	Stk24	serine/threonine kinase 24	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561742	Stk24	serine/threonine kinase 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1345827	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561742	Stk24	serine/threonine kinase 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561742	Stk24	serine/threonine kinase 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561742	Stk24	serine/threonine kinase 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561744	Timm17b	translocase of inner mitochondrial membrane 17b	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561744	Timm17b	translocase of inner mitochondrial membrane 17b	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561744	Timm17b	translocase of inner mitochondrial membrane 17b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561744	Timm17b	translocase of inner mitochondrial membrane 17b	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561747	Rgs9bp	regulator of G protein signaling 9 binding protein	gene	DOID:0050335	bradyopsia		ISO	RGD:1601793	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRADYOPSIA | ClinVar Annotator: match by term: Bradyopsia	PMID:25741868|PMID:28492532|PMID:31589614
1561747	Rgs9bp	regulator of G protein signaling 9 binding protein	gene	DOID:0070364	bradyopsia 2		ISO	RGD:1601793	D	RGD:7240710	20230505	OMIM			
1561747	Rgs9bp	regulator of G protein signaling 9 binding protein	gene	DOID:0070364	bradyopsia 2		ISO	RGD:1601793	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 2 | ClinVar Annotator: match by term: Prolonged electroretinal response suppression 2 | ClinVar Annotator: match by term: RGS9BP-related condition	PMID:25741868|PMID:28492532
1561761	Il1rapl2	interleukin 1 receptor accessory protein-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561761	Il1rapl2	interleukin 1 receptor accessory protein-like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561761	Il1rapl2	interleukin 1 receptor accessory protein-like 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561761	Il1rapl2	interleukin 1 receptor accessory protein-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561761	Il1rapl2	interleukin 1 receptor accessory protein-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561762	Ccdc117	coiled-coil domain containing 117	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561762	Ccdc117	coiled-coil domain containing 117	gene	DOID:1115	sarcoma		ISO	RGD:1602294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561762	Ccdc117	coiled-coil domain containing 117	gene	DOID:1324	lung cancer		ISO	RGD:1602294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561762	Ccdc117	coiled-coil domain containing 117	gene	DOID:3275	thymoma		ISO	RGD:1602294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561762	Ccdc117	coiled-coil domain containing 117	gene	DOID:4362	cervical cancer		ISO	RGD:1602294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561762	Ccdc117	coiled-coil domain containing 117	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561762	Ccdc117	coiled-coil domain containing 117	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0050591	tooth agenesis		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligodontia	PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:36939041|PMID:37086723
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868|PMID:28492532|PMID:29180823|PMID:31130284|PMID:33710394|PMID:35982159|PMID:39039281
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0050889	non-syndromic intellectual disability		ISO	RGD:1343412	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Non-syndromic intellectual disability	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:36939041|PMID:37086723
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0060260	ptosis		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0060811	syndromic X-linked intellectual disability Turner type		ISO	RGD:1343412	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0060811	syndromic X-linked intellectual disability Turner type		ISO	RGD:1343412	D	RGD:7240710	20190515	OMIM			
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0060811	syndromic X-linked intellectual disability Turner type		ISO	RGD:1343412	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: HUWE1-related condition | ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type | ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Turner type | ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, turner type	PMID:17576681|PMID:18252223|PMID:19377476|PMID:23721686|PMID:25326637|PMID:25356899|PMID:25590979|PMID:25644381|PMID:25679214|PMID:25741868|PMID:25741869|PMID:25985138|PMID:27130160|PMID:27884935|PMID:28492532|PMID:29118367|PMID:29180823|PMID:29307790|PMID:29758562|PMID:30797980|PMID:30919572|PMID:31130284|PMID:33710394|PMID:34314700|PMID:35887114|PMID:35937685|PMID:35982159|PMID:36939041|PMID:37086723|PMID:39039281|PMID:7943042|PMID:9536098
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0070367	leukoencephalopathy with vanishing white matter 5		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0080012	X-linked recessive disease		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked recessive inheritance	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0080982	X-linked intellectual disability-hypotonic facies syndrome-1		ISO	RGD:1343412	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked, 1	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0112037	chromosome Xp11.22 duplication syndrome		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HUWE1-related disorder	PMID:25741868|PMID:28492532
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1343412	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:10348	blepharophimosis		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1343412	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868|PMID:28492532
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1343412	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868|PMID:28492532|PMID:29180823
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability | ClinVar Annotator: match by term: Severe Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:16700052|PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:30109123|PMID:30797980|PMID:31130284|PMID:33710394|PMID:35982159|PMID:36939041|PMID:37086723|PMID:39039281
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability | ClinVar Annotator: match by term: Severe Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:30109123|PMID:31130284|PMID:33710394|PMID:35982159|PMID:36939041|PMID:37086723|PMID:39039281
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:10892	hypospadias		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:10907	microcephaly		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:31130284|PMID:33710394|PMID:35982159|PMID:36939041|PMID:37086723|PMID:39039281
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868|PMID:28492532
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:11830	myopia		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Mental retardation, X-linked	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:36939041|PMID:37086723
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:1826	epilepsy		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:36939041|PMID:37086723
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:1909	melanoma		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:28492532|PMID:29180823|PMID:31130284|PMID:33710394|PMID:35982159|PMID:39039281
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Metopic synostosis	PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:31130284|PMID:33710394|PMID:35982159|PMID:36939041|PMID:37086723|PMID:39039281
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:327	syringomyelia		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syringomyelia	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:3275	thymoma		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:420	hypertrichosis		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:28492532|PMID:29180823
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343412	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:540	strabismus		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:29180823|PMID:31130284|PMID:33710394|PMID:35982159|PMID:39039281
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:630	genetic disease		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:31130284|PMID:33710394|PMID:35982159|PMID:36939041|PMID:37086723|PMID:39039281
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:674	cleft palate		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:28492532
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9002189	High Myopia		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9003132	Sialorrhea		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:7708685|PMID:9153201
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343412	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:36939041|PMID:37086723
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:29180823|PMID:31130284|PMID:33710394|PMID:35982159|PMID:39039281
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1343412	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:36939041|PMID:37086723
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343412	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:18252223|PMID:19377476|PMID:25644381|PMID:25679214|PMID:25741868|PMID:25741869|PMID:25741905|PMID:25985138|PMID:27130160|PMID:28492532|PMID:29118367|PMID:29180823|PMID:31130284|PMID:33710394|PMID:34314700|PMID:35982159|PMID:36939041|PMID:37086723|PMID:39039281
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:36939041|PMID:37086723
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868|PMID:28492532|PMID:29180823|PMID:31130284|PMID:33710394|PMID:35982159|PMID:39039281
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diaphragmatic hernia	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:930	orbital disease		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:36939041|PMID:37086723
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:936	brain disease		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile encephalopathy	
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1343412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1561763	Huwe1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	gene	DOID:9834	hyperopia		ISO	RGD:1343412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532|PMID:29180823|PMID:31130284|PMID:33710394|PMID:35982159|PMID:39039281
1561765	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561765	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:10534	stomach cancer		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561765	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:1324	lung cancer		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561765	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:5041	esophageal cancer		ISO	RGD:1322883	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561765	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561765	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561765	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561765	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561765	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561765	Eif2d	eukaryotic translation initiation factor 2D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561779	Ccdc142	coiled-coil domain containing 142	gene	DOID:1909	melanoma		ISO	RGD:1606203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561779	Ccdc142	coiled-coil domain containing 142	gene	DOID:543	dystonia		ISO	RGD:156438172	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498
1561779	Ccdc142	coiled-coil domain containing 142	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561779	Ccdc142	coiled-coil domain containing 142	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561781	Tmem88	transmembrane protein 88	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561783	Stard5	StAR-related lipid transfer domain containing 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561783	Stard5	StAR-related lipid transfer domain containing 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561783	Stard5	StAR-related lipid transfer domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1317618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561783	Stard5	StAR-related lipid transfer domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561783	Stard5	StAR-related lipid transfer domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561790	Dtx2	deltex E3 ubiquitin ligase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561790	Dtx2	deltex E3 ubiquitin ligase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561790	Dtx2	deltex E3 ubiquitin ligase 2	gene	DOID:1324	lung cancer		ISO	RGD:1322389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561790	Dtx2	deltex E3 ubiquitin ligase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561790	Dtx2	deltex E3 ubiquitin ligase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561790	Dtx2	deltex E3 ubiquitin ligase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322389	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561790	Dtx2	deltex E3 ubiquitin ligase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561790	Dtx2	deltex E3 ubiquitin ligase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561790	Dtx2	deltex E3 ubiquitin ligase 2	gene	DOID:630	genetic disease		ISO	RGD:1322389	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1561790	Dtx2	deltex E3 ubiquitin ligase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561790	Dtx2	deltex E3 ubiquitin ligase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561790	Dtx2	deltex E3 ubiquitin ligase 2	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1322389	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
1561791	Parp11	poly (ADP-ribose) polymerase family, member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561791	Parp11	poly (ADP-ribose) polymerase family, member 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561791	Parp11	poly (ADP-ribose) polymerase family, member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561791	Parp11	poly (ADP-ribose) polymerase family, member 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561792	Ptrhd1	peptidyl-tRNA hydrolase domain containing 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1606864	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:27134041|PMID:27753167
1561792	Ptrhd1	peptidyl-tRNA hydrolase domain containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1606864	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1561792	Ptrhd1	peptidyl-tRNA hydrolase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561792	Ptrhd1	peptidyl-tRNA hydrolase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561792	Ptrhd1	peptidyl-tRNA hydrolase domain containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606864	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1561792	Ptrhd1	peptidyl-tRNA hydrolase domain containing 1	gene	DOID:9006851	NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1606864	D	RGD:7240710	20240529	OMIM			
1561792	Ptrhd1	peptidyl-tRNA hydrolase domain containing 1	gene	DOID:9006851	NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1606864	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities | ClinVar Annotator: match by term: PTRHD1-related disorder	PMID:25741868
1561793	Entpd8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:10907	microcephaly		ISO	RGD:1602162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1561793	Entpd8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:4362	cervical cancer		ISO	RGD:1602162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561793	Entpd8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561793	Entpd8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561793	Entpd8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561793	Entpd8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561793	Entpd8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602162	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561796	C10h16orf90	similar to human chromosome 16 open reading frame 90	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2303333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561797	Cks1b	CDC28 protein kinase regulatory subunit 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561797	Cks1b	CDC28 protein kinase regulatory subunit 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1344929	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561797	Cks1b	CDC28 protein kinase regulatory subunit 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561800	Lrrc61	leucine rich repeat containing 61	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561806	C19h4orf51	similar to human chromosome 4 open reading frame 51	gene	DOID:10534	stomach cancer		ISO	RGD:2974931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561807	Dpm3	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1349412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
1561807	Dpm3	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	gene	DOID:0112376	muscular dystrophy-dystroglycanopathy type B15		ISO	RGD:1349412	D	RGD:7240710	20200902	OMIM			
1561807	Dpm3	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	gene	DOID:0112376	muscular dystrophy-dystroglycanopathy type B15		ISO	RGD:1349412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, DPM3-RELATED	
1561807	Dpm3	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	gene	DOID:9006227	Congenital Disorder of Glycosylation Type 1O		ISO	RGD:1349412	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561807	Dpm3	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	gene	DOID:9006227	Congenital Disorder of Glycosylation Type 1O		ISO	RGD:1349412	D	RGD:7240710	20150304	OMIM			
1561807	Dpm3	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	gene	DOID:9006227	Congenital Disorder of Glycosylation Type 1O		ISO	RGD:1349412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15	PMID:28492532|PMID:28803818|PMID:31266720
1561807	Dpm3	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:10608	celiac disease		ISO	RGD:1347984	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:11476	osteoporosis		ISO	RGD:1347984	D	RGD:629136813|PMID:28756021	20251218	RGD		associated with cystic fibrosis;DNA:SNP: :rs3788766	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:12336	male infertility		ISO	RGD:1347984	D	RGD:629136815|PMID:25937799	20251218	RGD		DNA:SNP, haplotype: :rs2011162, g.27547C>G	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:1324	lung cancer		ISO	RGD:1347984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:1347984	D	RGD:629136813|PMID:28756021	20251218	RGD		associated with cystic fibrosis;DNA:SNP: :rs3788766	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:1485	cystic fibrosis		ISO	RGD:1347984	D	RGD:629136812|PMID:29635781	20260122	RGD		DNA: SNP: : rs3788766	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:1485	cystic fibrosis		ISO	RGD:1347984	D	RGD:629136814|PMID:36751320	20251218	RGD		protein:decreased expression:sweat	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:1485	cystic fibrosis	onset	ISO	RGD:1347984	D	RGD:629136813|PMID:28756021	20260122	RGD		DNA:SNP: :rs3788766	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:1347984	D	RGD:629136810|PMID:35372502	20251218	RGD		DNA:SNP:promoter:rs3788766	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:4362	cervical cancer		ISO	RGD:1347984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:77	gastrointestinal system disease	onset	ISO	RGD:1347984	D	RGD:629136812|PMID:29635781	20260122	RGD		associated with cystic fibrosis;DNA:SNP:promoter:rs3788766	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:8437	intestinal obstruction		ISO	RGD:1347984	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22466613
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:9000099	Experimental Colitis		IEP		D	RGD:1625272|PMID:17065219	20070531	RGD		mRNA:decreased expression:colon, colonocyte	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:9002802	Acidoses		IEP		D	RGD:1625278|PMID:15300171	20070531	RGD		mRNA:increased expression:jejunum	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:9005474	Experimental Sarcoma		IEP		D	RGD:1625275|PMID:17006743	20070531	RGD		mRNA, protein:increased expression:brush border epithelial cell	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:9006465	Meconium Ileus		ISO	RGD:1347984	D	RGD:629136811|PMID:22466613	20251218	RGD		associated with cystic fibrosis; DNA: SNPs:promoter, intron:multiple	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:1347984	D	RGD:629136812|PMID:29635781	20251218	RGD		associated with cystic fibrosis;DNA:SNP:promoter:rs3788766	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:1347984	D	RGD:629136813|PMID:28756021	20260122	RGD		associated with cystic fibrosis;DNA:SNP:promoter:rs3788766	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:9008885	Staphylococcal Infections		ISO	RGD:1347984	D	RGD:629136813|PMID:28756021	20260122	RGD		associated with cystic fibrosis;DNA:SNP:promoter:rs3788766	
1561810	Slc6a14	solute carrier family 6 member 14	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1347984	D	RGD:1625271|PMID:15331564	20070531	RGD		DNA:SNPs	
1561814	Garin1a	golgi associated RAB2 interactor 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561814	Garin1a	golgi associated RAB2 interactor 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561814	Garin1a	golgi associated RAB2 interactor 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561814	Garin1a	golgi associated RAB2 interactor 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561816	Foxi3	forkhead box I3	gene	DOID:14693	Clouston syndrome		ISO	RGD:12293264	D	RGD:9068941	20250717	OMIA		Ectodermal dysplasia	PMID:15771734|PMID:15958791|PMID:18787161|PMID:23413772|PMID:23441037|PMID:27994129|PMID:28710361|PMID:34861369|PMID:37191329|PMID:3998444|PMID:8437436
1561816	Foxi3	forkhead box I3	gene	DOID:2907	Goldenhar syndrome		ISO	RGD:2302532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniofacial Microsomia | ClinVar Annotator: match by term: Craniofacial microsomia 1	PMID:28492532|PMID:37041148
1561816	Foxi3	forkhead box I3	gene	DOID:2907	Goldenhar syndrome		ISS	RGD:9586081	D	RGD:13592920	20230713	MouseDO		OMIM:164210	
1561816	Foxi3	forkhead box I3	gene	DOID:630	genetic disease		ISO	RGD:2302532	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1561816	Foxi3	forkhead box I3	gene	DOID:9007962	Craniofacial Microsomia 2		ISO	RGD:2302532	D	RGD:7240710	20230726	OMIM			
1561816	Foxi3	forkhead box I3	gene	DOID:9007962	Craniofacial Microsomia 2		ISO	RGD:2302532	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: CRANIOFACIAL MICROSOMIA 2 | ClinVar Annotator: match by term: Craniofacial microsomia 2 | ClinVar Annotator: match by term: FOXI3-related condition	PMID:25741868|PMID:28492532|PMID:36260083|PMID:37041148
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:0080521	lung non-squamous non-small cell carcinoma		ISO	RGD:1346178	D	RGD:151347838|PMID:25250715	20220204	RGD		mRNA,protein:increased expression:lung	PMID:25250715|REF_RGD_ID:151347838
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:0081216	autosomal recessive intellectual developmental disorder 54		ISO	RGD:1346178	D	RGD:7240710	20190315	OMIM			
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:0081216	autosomal recessive intellectual developmental disorder 54		ISO	RGD:1346178	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 54 | ClinVar Annotator: match by term: TNIK-related condition	PMID:25741868|PMID:28492532
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:1115	sarcoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:1909	melanoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:3275	thymoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:37	skin disease		ISO	RGD:1346178	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1346178	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1346178	D	RGD:151347837|PMID:25160513	20220204	RGD		protein:increased phosphorylation:liver, nucleus	PMID:25160513|REF_RGD_ID:151347837
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9003566	Mesothelioma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1346178	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1558507	D	RGD:151347682|PMID:27562646	20220131	RGD			
1561817	Tnik	TRAF2 and NCK interacting kinase	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1346178	D	RGD:11530847|PMID:26499327	20220204	RGD		protein:increased expression:colorectum	PMID:26499327|REF_RGD_ID:11530847
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:0060249	scoliosis		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:14564667|PMID:19414485|PMID:28492532
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:0060599	Nance-Horan syndrome		ISO	RGD:1352036	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:0060599	Nance-Horan syndrome		ISO	RGD:1352036	D	RGD:1598795|PMID:16736028	20061219	RGD		DNA:snp, insertion, nonsense mutations:multiple (human)	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:0060599	Nance-Horan syndrome		ISO	RGD:1352036	D	RGD:7240710	20130221	OMIM			
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:0060599	Nance-Horan syndrome		ISO	RGD:1352036	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NANCE-HORAN SYNDROME | ClinVar Annotator: match by term: NHS-related condition | ClinVar Annotator: match by term: Nance-Horan syndrome	PMID:14564667|PMID:15466011|PMID:15623749|PMID:16199547|PMID:16736028|PMID:17256798|PMID:17576681|PMID:18018428|PMID:18949062|PMID:19414485|PMID:20882036|PMID:25640679|PMID:25741868|PMID:26633542|PMID:27148795|PMID:27159028|PMID:28492532|PMID:28557584|PMID:29611406|PMID:30642278|PMID:9536098
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:0060599	Nance-Horan syndrome		ISS	RGD:1618200	D	RGD:13592920	20230718	MouseDO		OMIM:302350	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:0110272	cataract 40		ISO	RGD:1352036	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:0110272	cataract 40		ISO	RGD:1352036	D	RGD:7240710	20140212	OMIM			
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:0110272	cataract 40		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract 40	PMID:25741868
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:14564667|PMID:19414485|PMID:28492532
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome	PMID:31690835
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:10283	prostate cancer		ISO	RGD:1352036	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:28492532
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:1059	intellectual disability		ISO	RGD:1352036	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:10629	microphthalmia		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:14564667|PMID:19414485|PMID:28492532
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:14564667|PMID:19414485|PMID:28492532
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:1115	sarcoma		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:14564667|PMID:19414485|PMID:28492532
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:1686	glaucoma		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:14564667|PMID:19414485|PMID:28492532
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:3326	purpura		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Petechiae	PMID:14564667|PMID:19414485|PMID:28492532
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:630	genetic disease		ISO	RGD:1352036	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14564667|PMID:19414485|PMID:25741868|PMID:28492532
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:9003137	Photophobia		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:14564667|PMID:19414485|PMID:28492532
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:9003591	Telecanthus		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:9003816	Macrocephaly		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:14564667|PMID:19414485|PMID:28492532
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:14564667|PMID:19414485|PMID:28492532
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561818	Nhs	NHS actin remodeling regulator	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1352036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:14564667|PMID:19414485|PMID:28492532
1561825	Efcab7	EF-hand calcium binding domain 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561825	Efcab7	EF-hand calcium binding domain 7	gene	DOID:10534	stomach cancer		ISO	RGD:1603602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561825	Efcab7	EF-hand calcium binding domain 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1603602	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561825	Efcab7	EF-hand calcium binding domain 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561825	Efcab7	EF-hand calcium binding domain 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561825	Efcab7	EF-hand calcium binding domain 7	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1603602	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:25741868
1561825	Efcab7	EF-hand calcium binding domain 7	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1561825	Efcab7	EF-hand calcium binding domain 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561825	Efcab7	EF-hand calcium binding domain 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561830	Fam81b	family with sequence similarity 81, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561830	Fam81b	family with sequence similarity 81, member B	gene	DOID:10534	stomach cancer		ISO	RGD:1603176	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561830	Fam81b	family with sequence similarity 81, member B	gene	DOID:1324	lung cancer		ISO	RGD:1603176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561830	Fam81b	family with sequence similarity 81, member B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561830	Fam81b	family with sequence similarity 81, member B	gene	DOID:4362	cervical cancer		ISO	RGD:1603176	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561830	Fam81b	family with sequence similarity 81, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561830	Fam81b	family with sequence similarity 81, member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561830	Fam81b	family with sequence similarity 81, member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561831	Tgm3	transglutaminase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561831	Tgm3	transglutaminase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561831	Tgm3	transglutaminase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343492	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1561831	Tgm3	transglutaminase 3	gene	DOID:9001368	Uncombable Hair Syndrome 2		ISO	RGD:1343492	D	RGD:7240710	20190315	OMIM			
1561831	Tgm3	transglutaminase 3	gene	DOID:9001368	Uncombable Hair Syndrome 2		ISO	RGD:1343492	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TGM3-related condition | ClinVar Annotator: match by term: Uncombable hair syndrome 2	PMID:28492532
1561831	Tgm3	transglutaminase 3	gene	DOID:9005997	Uncombable Hair Syndrome		ISO	RGD:1343492	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1561831	Tgm3	transglutaminase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561831	Tgm3	transglutaminase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1561831	Tgm3	transglutaminase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561833	Zmym6	zinc finger MYM-type containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561833	Zmym6	zinc finger MYM-type containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1345857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1561833	Zmym6	zinc finger MYM-type containing 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561833	Zmym6	zinc finger MYM-type containing 6	gene	DOID:1115	sarcoma		ISO	RGD:1345857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561833	Zmym6	zinc finger MYM-type containing 6	gene	DOID:1909	melanoma		ISO	RGD:1345857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561833	Zmym6	zinc finger MYM-type containing 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561833	Zmym6	zinc finger MYM-type containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1345857	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561833	Zmym6	zinc finger MYM-type containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561833	Zmym6	zinc finger MYM-type containing 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561842	En2	engrailed homeobox 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343015	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25290267
1561842	En2	engrailed homeobox 2	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1557783	D	RGD:13592920	20230718	MouseDO			
1561842	En2	engrailed homeobox 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1557783	D	RGD:5687199|PMID:17015829	20120206	RGD			
1561842	En2	engrailed homeobox 2	gene	DOID:12849	autistic disorder		ISO	RGD:1343015	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15024396|PMID:16935268|PMID:19186208|PMID:20523082
1561842	En2	engrailed homeobox 2	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:1343015	D	RGD:9068941	20200806	RGD		DNA:SNPs:intron:rs1861972, rs1861973(human)	PMID:15024396|REF_RGD_ID:1358620
1561842	En2	engrailed homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343015	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561842	En2	engrailed homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561842	En2	engrailed homeobox 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561842	En2	engrailed homeobox 2	gene	DOID:9001661	Taste Disorders		ISO	RGD:1343015	D	RGD:11554173	20200317	CTD		CTD Direct Evidence: marker/mechanism	PMID:29953887
1561846	Cytl1	cytokine like 1	gene	DOID:1909	melanoma		ISO	RGD:1351161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561848	Slamf6	SLAM family member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561848	Slamf6	SLAM family member 6	gene	DOID:1115	sarcoma		ISO	RGD:1345807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561848	Slamf6	SLAM family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561848	Slamf6	SLAM family member 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1345807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1561848	Slamf6	SLAM family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561848	Slamf6	SLAM family member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561849	Vxn	vexin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561849	Vxn	vexin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561852	Ap5s1	adaptor related protein complex 5 subunit sigma 1	gene	DOID:3070	high grade glioma		ISO	RGD:1345016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561852	Ap5s1	adaptor related protein complex 5 subunit sigma 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345016	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561852	Ap5s1	adaptor related protein complex 5 subunit sigma 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561854	Ascl5	achaete-scute family bHLH transcription factor 5	gene	DOID:0070690	lobodontia		ISO	RGD:1603722	D	RGD:7240710	20260401	OMIM			
1561854	Ascl5	achaete-scute family bHLH transcription factor 5	gene	DOID:0070690	lobodontia		ISO	RGD:1603722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LOBODONTIA	PMID:25741868|PMID:41673016
1561859	Pgpep1l	pyroglutamyl-peptidase I-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:3052652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:0060309	syndromic X-linked intellectual disability		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked syndromic intellectual disability	
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:0060800	syndromic X-linked intellectual disability 5		ISO	RGD:1348501	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17186471|PMID:17617514|PMID:23756445
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:0060800	syndromic X-linked intellectual disability 5		ISO	RGD:1348501	D	RGD:7240710	20140723	OMIM			
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:0060800	syndromic X-linked intellectual disability 5		ISO	RGD:1348501	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: PETTIGREW SYNDROME | ClinVar Annotator: match by term: Pettigrew syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	PMID:17186471|PMID:18414213|PMID:18428203|PMID:25741868|PMID:28492532|PMID:33847015
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:0060800	syndromic X-linked intellectual disability 5		ISS	RGD:1558591	D	RGD:13592920	20230718	MouseDO		OMIM:304340	
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:1059	intellectual disability		ISO	RGD:1348501	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17186471|PMID:18428203|PMID:25741868
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:12849	autistic disorder		ISO	RGD:1348501	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:17186471|PMID:18428203|PMID:25741868
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:630	genetic disease		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348501	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348501	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17186471|PMID:18428203|PMID:25741868
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561862	Ap1s2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561867	Lefty1	left right determination factor 1	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:1558349	D	RGD:401794430|PMID:33409963	20230919	RGD			
1561867	Lefty1	left right determination factor 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1350904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1561867	Lefty1	left right determination factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561867	Lefty1	left right determination factor 1	gene	DOID:9004303	Tubulointerstitial Fibrosis	ameliorates	ISO	RGD:1558349	D	RGD:401824679|PMID:32065356	20230919	RGD			
1561872	Siva1	SIVA1, apoptosis-inducing factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1603317	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561872	Siva1	SIVA1, apoptosis-inducing factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561872	Siva1	SIVA1, apoptosis-inducing factor	gene	DOID:9000220	Coxsackievirus Infections		ISO	RGD:1603317	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16683188
1561873	Myo15a	myosin XVA	gene	DOID:0050486	exanthem		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:15654330|PMID:17851452|PMID:24033266|PMID:27375115|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1343693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:16199547|PMID:17546645|PMID:20642360|PMID:23208854|PMID:24033266|PMID:24123792|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27375115|PMID:27870113|PMID:28000701|PMID:28492532|PMID:30311386|PMID:30953472|PMID:31579092|PMID:31980526|PMID:33398081|PMID:35346193
1561873	Myo15a	myosin XVA	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:25373420|PMID:25741868|PMID:28492532|PMID:30311386|PMID:30953472|PMID:35346193|PMID:35802133|PMID:36633841|PMID:39498320
1561873	Myo15a	myosin XVA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561873	Myo15a	myosin XVA	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	
1561873	Myo15a	myosin XVA	gene	DOID:0060249	scoliosis		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24033266|PMID:26467025|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:0060326	myelomeningocele		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelomeningocele	
1561873	Myo15a	myosin XVA	gene	DOID:0110488	autosomal recessive nonsyndromic deafness 3		ISO	RGD:1343693	D	RGD:11554173	20210413	CTD		CTD Direct Evidence: marker/mechanism	PMID:33372036
1561873	Myo15a	myosin XVA	gene	DOID:0110488	autosomal recessive nonsyndromic deafness 3		ISO	RGD:1343693	D	RGD:7240710	20130425	OMIM			
1561873	Myo15a	myosin XVA	gene	DOID:0110488	autosomal recessive nonsyndromic deafness 3		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3	PMID:11735029|PMID:12408074|PMID:16199547|PMID:17546645|PMID:17576681|PMID:17851452|PMID:19274735|PMID:19888295|PMID:20505086|PMID:20642360|PMID:21917145|PMID:22245518|PMID:22736430|PMID:22903915|PMID:23208854|PMID:23767834|PMID:23865914|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24123792|PMID:24206587|PMID:24498627|PMID:24654934|PMID:24875298|PMID:24949729|PMID:25262649|PMID:25373420|PMID:2574186|PMID:25741868|PMID:25788563|PMID:25792667|PMID:26011067|PMID:26226137|PMID:26242193|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26810297|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27344577|PMID:27375115|PMID:27436265|PMID:27573290|PMID:27635202|PMID:27734841|PMID:27870113|PMID:28000701|PMID:28383030|PMID:28390610|PMID:28492532|PMID:28984810|PMID:29196752|PMID:29482514|PMID:29692870|PMID:29907799|PMID:29986705|PMID:30139988|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30579064|PMID:30622556|PMID:30665423|PMID:30682115|PMID:30733538|PMID:30755392|PMID:30828794|PMID:30896630|PMID:30953472|PMID:31379920|PMID:31389194|PMID:31579092|PMID:31581539|PMID:31589614|PMID:31827275|PMID:31850270|PMID:31898538|PMID:31980526|PMID:31992338|PMID:32238869|PMID:32279305|PMID:32387678|PMID:32617096|PMID:32623615|PMID:32658404|PMID:32737134|PMID:32747562|PMID:32802042|PMID:32860223|PMID:33095980|PMID:33111345|PMID:33187236|PMID:33208113|PMID:33297549|PMID:33398081|PMID:33524517|PMID:33597575|PMID:33879512|PMID:34062854|PMID:34265623|PMID:34325055|PMID:34374074|PMID:34416374|PMID:34599368|PMID:34733312|PMID:34744965|PMID:34837038|PMID:34974475|PMID:35062939|PMID:35346193|PMID:35440622|PMID:35580552|PMID:35640668|PMID:35802133|PMID:35853923|PMID:35939872|PMID:35982127|PMID:36217262|PMID:36401330|PMID:36472766|PMID:36515421|PMID:36568381|PMID:36597107|PMID:36633841|PMID:37438890|PMID:37811145|PMID:37996878|PMID:38374194|PMID:38610765|PMID:38868966|PMID:39333430|PMID:39336818|PMID:39498320|PMID:40275102|PMID:40377830|PMID:7616538|PMID:7704031|PMID:9536098|PMID:9603736
1561873	Myo15a	myosin XVA	gene	DOID:0110488	autosomal recessive nonsyndromic deafness 3		ISS	RGD:1615958	D	RGD:13592920	20230718	MouseDO		OMIM:600316	
1561873	Myo15a	myosin XVA	gene	DOID:0110535	autosomal recessive nonsyndromic deafness 9		ISO	RGD:1343693	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 9	PMID:25741868|PMID:28492532|PMID:28964305
1561873	Myo15a	myosin XVA	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1343693	D	RGD:1600554|PMID:9603736	20070314	RGD		DFNB3, OMIM:600316, DNA:point mutation:exon:I892F	
1561873	Myo15a	myosin XVA	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:12408074|PMID:15654330|PMID:17546645|PMID:17576681|PMID:17851452|PMID:24033266|PMID:25741868|PMID:25792667|PMID:26467025|PMID:26969326|PMID:27068579|PMID:27375115|PMID:28492532|PMID:33111345|PMID:33398081|PMID:34733312|PMID:36515421|PMID:37811145|PMID:9536098
1561873	Myo15a	myosin XVA	gene	DOID:10376	amblyopia		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:15654330|PMID:17851452|PMID:24033266|PMID:27375115|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:10534	stomach cancer		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561873	Myo15a	myosin XVA	gene	DOID:1059	intellectual disability		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17546645|PMID:25741868|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:10907	microcephaly		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1561873	Myo15a	myosin XVA	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31827275
1561873	Myo15a	myosin XVA	gene	DOID:10983	Alport syndrome		ISO	RGD:1343693	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Alport syndrome	PMID:28492532|PMID:30311386
1561873	Myo15a	myosin XVA	gene	DOID:1115	sarcoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561873	Myo15a	myosin XVA	gene	DOID:11252	microcytic anemia		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31827275
1561873	Myo15a	myosin XVA	gene	DOID:1240	leukemia		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukemia	
1561873	Myo15a	myosin XVA	gene	DOID:12849	autistic disorder		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:17546645|PMID:25741868|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:1324	lung cancer		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:13620	patent foramen ovale		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:31827275
1561873	Myo15a	myosin XVA	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
1561873	Myo15a	myosin XVA	gene	DOID:1432	blindness		IAGP		D	RGD:150429616|PMID:21479269	20260604	RGD			
1561873	Myo15a	myosin XVA	gene	DOID:1432	blindness	induces	IAGP		D	RGD:150429616|PMID:21479269	20210909	RGD		DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat)	
1561873	Myo15a	myosin XVA	gene	DOID:1657	ventricular septal defect		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31827275
1561873	Myo15a	myosin XVA	gene	DOID:1826	epilepsy		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17546645|PMID:23767834|PMID:24033266|PMID:24949729|PMID:25741868|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:27375115|PMID:27870113|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:32747562|PMID:33398081|PMID:35982127|PMID:38868966|PMID:7616538|PMID:7704031
1561873	Myo15a	myosin XVA	gene	DOID:1909	melanoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561873	Myo15a	myosin XVA	gene	DOID:1969	cerebral palsy		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:17546645|PMID:23767834|PMID:24033266|PMID:24949729|PMID:25741868|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:2975	cystic kidney disease		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:27375115|PMID:27870113|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:32747562|PMID:33398081|PMID:35982127|PMID:38868966|PMID:7616538|PMID:7704031
1561873	Myo15a	myosin XVA	gene	DOID:3275	thymoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561873	Myo15a	myosin XVA	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561873	Myo15a	myosin XVA	gene	DOID:4362	cervical cancer		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561873	Myo15a	myosin XVA	gene	DOID:552	pneumonia		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:24033266|PMID:26467025|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561873	Myo15a	myosin XVA	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:630	genetic disease		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15654330|PMID:17546645|PMID:17851452|PMID:21917145|PMID:23767834|PMID:24033266|PMID:25373420|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26467025|PMID:26969326|PMID:27375115|PMID:27870113|PMID:28492532|PMID:29178603|PMID:30311386|PMID:30622556|PMID:30953472|PMID:31827275|PMID:32747562|PMID:33398081|PMID:33784549|PMID:34519870|PMID:35346193|PMID:35982127|PMID:38868966|PMID:7616538|PMID:7704031
1561873	Myo15a	myosin XVA	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:27375115|PMID:27870113|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:32747562|PMID:33398081|PMID:35982127|PMID:38868966|PMID:7616538|PMID:7704031
1561873	Myo15a	myosin XVA	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1561873	Myo15a	myosin XVA	gene	DOID:8488	polyhydramnios		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:24033266|PMID:26467025|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1561873	Myo15a	myosin XVA	gene	DOID:9000006	Supraventricular Tachycardia		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Supraventricular tachycardia	PMID:15654330|PMID:17851452|PMID:24033266|PMID:27375115|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:9000323	Biventricular Hypertrophy		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Biventricular hypertrophy	PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:27375115|PMID:27870113|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:32747562|PMID:33398081|PMID:35982127|PMID:38868966|PMID:7616538|PMID:7704031
1561873	Myo15a	myosin XVA	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17546645|PMID:22245518|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:31827275
1561873	Myo15a	myosin XVA	gene	DOID:9003133	Hypertelorism		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26467025|PMID:27375115|PMID:27870113|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:32747562|PMID:33398081|PMID:35982127|PMID:38868966|PMID:7616538|PMID:7704031
1561873	Myo15a	myosin XVA	gene	DOID:9003566	Mesothelioma		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1561873	Myo15a	myosin XVA	gene	DOID:9004507	Hirsutism		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:24033266|PMID:26467025|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:9004538	Hearing Loss		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:17546645|PMID:17853461|PMID:21917145|PMID:22245518|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24123792|PMID:24654934|PMID:24875298|PMID:25373420|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26467025|PMID:26969326|PMID:27375115|PMID:27870113|PMID:28000701|PMID:28492532|PMID:28984810|PMID:30311386|PMID:30622556|PMID:30953472|PMID:31827275|PMID:31980526|PMID:32737134|PMID:32747562|PMID:33398081|PMID:35346193|PMID:35802133|PMID:35982127|PMID:36633841|PMID:37438890|PMID:38868966|PMID:39336818|PMID:39498320|PMID:7616538|PMID:7704031
1561873	Myo15a	myosin XVA	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:24033266|PMID:26467025|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24033266|PMID:26467025|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561873	Myo15a	myosin XVA	gene	DOID:9007661	Dwarfism		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24033266|PMID:26467025|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24033266|PMID:26467025|PMID:28492532
1561873	Myo15a	myosin XVA	gene	DOID:9008681	Deafness		ISO	RGD:1343693	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	
1561873	Myo15a	myosin XVA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561873	Myo15a	myosin XVA	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1344611	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26457647
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia	PMID:25741868|PMID:28492532
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1344611	D	RGD:10450876|PMID:23099237	20160224	RGD		DNA:mutations:cds:	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1344611	D	RGD:11038712|PMID:24216483	20160222	RGD			
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1344611	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27992414
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1344611	D	RGD:7240710	20141015	OMIM			
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1344611	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: ASXL1-related condition | ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome	PMID:16199547|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22237106|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:24728327|PMID:25596267|PMID:25652455|PMID:25741868|PMID:26467025|PMID:27276561|PMID:27895058|PMID:28492532|PMID:29681105|PMID:30147881
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1344611	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ASXL1-related condition | ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes	PMID:16199547|PMID:16412590|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22237106|PMID:22419483|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24216483|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25596267|PMID:25652455|PMID:25741868|PMID:26095772|PMID:26364555|PMID:26467025|PMID:27034984|PMID:27069254|PMID:27276561|PMID:27895058|PMID:27993330|PMID:28453743|PMID:28492532|PMID:28966033|PMID:29681105|PMID:30147881|PMID:31969346|PMID:32680567|PMID:34257334|PMID:34570300|PMID:35101336|PMID:35361921
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0050908	myelodysplastic syndrome		ISS	RGD:1557697	D	RGD:13592920	20230718	MouseDO		OMIM:614286	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0050908	myelodysplastic syndrome	disease_progression	ISO	RGD:1344611	D	RGD:11038707|PMID:21576631	20160222	RGD		DNA:mutations:cds:	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0050908	myelodysplastic syndrome	treatment	ISO	RGD:1344611	D	RGD:11038769|PMID:24045501	20160224	RGD			
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0060249	scoliosis		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:16412590|PMID:21706002|PMID:25741868|PMID:26364555|PMID:28492532|PMID:31969346
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0060260	ptosis		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1344611	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0060597	atypical chronic myeloid leukemia, BCR-ABL1 negative		ISO	RGD:1344611	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0080188	chronic myelomonocytic leukemia	disease_progression	ISO	RGD:1344611	D	RGD:11038767|PMID:20880116	20160224	RGD		DNA:mutations:exon:	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1344611	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22419483|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24216483|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25596267|PMID:25652455|PMID:25741868|PMID:26095772|PMID:26467025|PMID:27034984|PMID:27276561|PMID:27895058|PMID:27993330|PMID:28453743|PMID:28492532|PMID:28966033|PMID:29681105|PMID:30147881|PMID:32680567|PMID:34257334|PMID:34570300|PMID:35101336|PMID:35361921
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0081254	posterior fossa group A ependymoma		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Posterior fossa group A ependymoma	PMID:27993330|PMID:34570300|PMID:35587280
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:16412590|PMID:25131622|PMID:26364555
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:1059	intellectual disability		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual disability	PMID:16412590|PMID:21706002|PMID:25741868|PMID:26364555|PMID:28492532|PMID:31969346
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:10907	microcephaly		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16412590|PMID:25131622|PMID:25741868|PMID:26364555|PMID:28492532
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:11111	hydronephrosis		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:12849	autistic disorder		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism	PMID:16412590
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1344611	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22419483|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24216483|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25596267|PMID:25652455|PMID:25741868|PMID:26095772|PMID:26467025|PMID:27034984|PMID:27214377|PMID:27276561|PMID:27895058|PMID:27993330|PMID:28453743|PMID:28492532|PMID:28966033|PMID:29681105|PMID:30013160|PMID:30147881|PMID:32680567|PMID:34257334|PMID:34570300|PMID:35101336|PMID:35361921
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:1826	epilepsy		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16412590|PMID:25741868|PMID:28492532
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:2154	nephroblastoma		ISO	RGD:1344611	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:2226	myeloproliferative neoplasm		ISS	RGD:1557697	D	RGD:13592920	20240425	MouseDO			
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:255	hemangioma		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:3275	thymoma		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:420	hypertrichosis		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:4797	SM-AHNMD	disease_progression	ISO	RGD:1344611	D	RGD:11038711|PMID:24465546	20160222	RGD		DNA:mutations: :	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:4971	myelofibrosis		ISO	RGD:1344611	D	RGD:11038705|PMID:21712540	20160222	RGD		DNA:mutation,deletion:exon:2475dupA, 2846_2847del (human)	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:4971	myelofibrosis	disease_progression	ISO	RGD:1344611	D	RGD:11038768|PMID:23619563	20160224	RGD		DNA:mutations: :	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:630	genetic disease		ISO	RGD:1344611	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16412590|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:24728327|PMID:25131622|PMID:25596267|PMID:25652455|PMID:25741868|PMID:25921057|PMID:26364555|PMID:27069254|PMID:27276561|PMID:27895058|PMID:28229513|PMID:28492532|PMID:30806792|PMID:31969346
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:630	genetic disease		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16412590|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25131622|PMID:25596267|PMID:25652455|PMID:25741868|PMID:25921057|PMID:26364555|PMID:27069254|PMID:27276561|PMID:27895058|PMID:28229513|PMID:28492532|PMID:31969346
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic Myeloid Leukemia	PMID:36068610
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1344611	D	RGD:126779580|PMID:32317519	20210409	RGD		associated with colorectal cancer	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:16412590|PMID:25131622|PMID:26364555
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9001582	Bohring Syndrome		ISO	RGD:1344611	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21706002
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9001582	Bohring Syndrome		ISO	RGD:1344611	D	RGD:7240710	20130221	OMIM			
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9001582	Bohring Syndrome		ISO	RGD:1344611	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BOHRING-OPITZ SYNDROME | ClinVar Annotator: match by term: Bohring syndrome | ClinVar Annotator: match by term: Bohring-Opitz syndrome | ClinVar Annotator: match by term: C-like syndrome | ClinVar Annotator: match by term: OPITZ TRIGONOCEPHALY-LIKE SYNDROME | ClinVar Annotator: match by term: Opitz trigonocephaly-like syndrome	PMID:16412590|PMID:18414213|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22419483|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24033266|PMID:24216483|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:24710217|PMID:25106414|PMID:25131622|PMID:25596267|PMID:25652455|PMID:25741868|PMID:25921057|PMID:26095772|PMID:26364555|PMID:26467025|PMID:26633542|PMID:27034984|PMID:27069254|PMID:27276561|PMID:27895058|PMID:27993330|PMID:28453743|PMID:28492532|PMID:28966033|PMID:29681105|PMID:30147881|PMID:31785789|PMID:31969346|PMID:32680567|PMID:34257334|PMID:34570300|PMID:35101336|PMID:35361921|PMID:39141113
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:20880116|PMID:21576631|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25596267|PMID:25652455|PMID:25741868|PMID:27276561|PMID:27895058|PMID:28492532|PMID:30013160|PMID:31969346|PMID:32581362
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344611	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9004507	Hirsutism		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:16412590|PMID:25131622|PMID:25741868|PMID:26364555
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1344611	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:16412590|PMID:21706002|PMID:25741868|PMID:26364555|PMID:28492532|PMID:31969346
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:16412590|PMID:21706002|PMID:25741868|PMID:26364555|PMID:28492532|PMID:31969346
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9005834	Ependymomas		ISO	RGD:1344611	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ependymoma	PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22419483|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24216483|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25596267|PMID:25652455|PMID:25741868|PMID:26095772|PMID:26467025|PMID:27034984|PMID:27276561|PMID:27895058|PMID:27993330|PMID:28453743|PMID:28492532|PMID:28966033|PMID:29681105|PMID:30147881|PMID:32680567|PMID:34257334|PMID:34570300|PMID:35101336|PMID:35361921
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9005985	Rubinstein Taybi like Syndrome		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rubinstein Taybi like syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome-like	PMID:16412590
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:16412590|PMID:21706002|PMID:25741868|PMID:26364555|PMID:28492532|PMID:31969346
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:16412590|PMID:25131622|PMID:26364555
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9119	acute myeloid leukemia		ISS	RGD:1557697	D	RGD:13592920	20240425	MouseDO		OMIM:601626	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1344611	D	RGD:11038706|PMID:20693432	20160222	RGD		DNA:mutations:exon:	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:930	orbital disease		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:16412590|PMID:21706002|PMID:25741868|PMID:26364555|PMID:28492532|PMID:31969346
1561878	Asxl1	ASXL transcriptional regulator 1	gene	DOID:936	brain disease		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:16412590
1561880	Anapc11	anaphase promoting complex subunit 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561880	Anapc11	anaphase promoting complex subunit 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561884	Spns3	SPNS lysolipid transporter 3, sphingosine-1-phosphate	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561884	Spns3	SPNS lysolipid transporter 3, sphingosine-1-phosphate	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561884	Spns3	SPNS lysolipid transporter 3, sphingosine-1-phosphate	gene	DOID:1909	melanoma		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561884	Spns3	SPNS lysolipid transporter 3, sphingosine-1-phosphate	gene	DOID:3275	thymoma		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561884	Spns3	SPNS lysolipid transporter 3, sphingosine-1-phosphate	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561884	Spns3	SPNS lysolipid transporter 3, sphingosine-1-phosphate	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561884	Spns3	SPNS lysolipid transporter 3, sphingosine-1-phosphate	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561889	Rad54l2	RAD54 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561889	Rad54l2	RAD54 like 2	gene	DOID:1824	status epilepticus		ISO	RGD:1604389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	
1561889	Rad54l2	RAD54 like 2	gene	DOID:1909	melanoma		ISO	RGD:1604389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561889	Rad54l2	RAD54 like 2	gene	DOID:2234	focal epilepsy		ISO	RGD:1604389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	
1561889	Rad54l2	RAD54 like 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1604389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1561889	Rad54l2	RAD54 like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561889	Rad54l2	RAD54 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604389	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561889	Rad54l2	RAD54 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561889	Rad54l2	RAD54 like 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1561889	Rad54l2	RAD54 like 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1604389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1561889	Rad54l2	RAD54 like 2	gene	DOID:9004992	Apnea		ISO	RGD:1604389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	
1561889	Rad54l2	RAD54 like 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1561889	Rad54l2	RAD54 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561889	Rad54l2	RAD54 like 2	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1604389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	
1561889	Rad54l2	RAD54 like 2	gene	DOID:936	brain disease		ISO	RGD:1604389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
1561893	Ankrd44	ankyrin repeat domain 44	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561893	Ankrd44	ankyrin repeat domain 44	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561893	Ankrd44	ankyrin repeat domain 44	gene	DOID:1115	sarcoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561893	Ankrd44	ankyrin repeat domain 44	gene	DOID:1324	lung cancer		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561893	Ankrd44	ankyrin repeat domain 44	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561893	Ankrd44	ankyrin repeat domain 44	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561893	Ankrd44	ankyrin repeat domain 44	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561893	Ankrd44	ankyrin repeat domain 44	gene	DOID:5041	esophageal cancer		ISO	RGD:1605602	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561893	Ankrd44	ankyrin repeat domain 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561893	Ankrd44	ankyrin repeat domain 44	gene	DOID:9000211	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE		ISO	RGD:1605602	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language	PMID:25741868
1561893	Ankrd44	ankyrin repeat domain 44	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561893	Ankrd44	ankyrin repeat domain 44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561893	Ankrd44	ankyrin repeat domain 44	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561893	Ankrd44	ankyrin repeat domain 44	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561898	Prr7	proline rich 7 (synaptic)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561903	Tmem270	transmembrane protein 270	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561912	P2ry10	P2Y receptor family member 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561912	P2ry10	P2Y receptor family member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606321	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1606321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:1612	breast cancer		ISO	RGD:1606321	D	RGD:5688064|PMID:20847343	20120217	RGD		protein:increased expression:breast tumor cell, cytoplasm (human)	
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:1936	atherosclerosis		ISO	RGD:1606321	D	RGD:5688075|PMID:14736553	20120217	RGD		protein:decreased expression:mammary arteries (human)	
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:3181	oligodendroglioma		ISO	RGD:1606321	D	RGD:5688067|PMID:19347995	20120217	RGD		protein:increased expression:brain cortex, white matter (human)	
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:3602	toxic encephalopathy		ISO	RGD:1606321	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29471019
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606321	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606321	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:9002211	Hyperalgesia		IMP		D	RGD:5688057|PMID:16192391	20120217	RGD			
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:9002457	Experimental Arthritis		IEP		D	RGD:2300108|PMID:12707354	20120217	RGD		mRNA:increased expression:paw (rat)	
1561913	Ptges3	prostaglandin E synthase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561916	Spmip6	sperm microtubule inner protein 6	gene	DOID:0060058	lymphoma		ISO	RGD:1322222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1561916	Spmip6	sperm microtubule inner protein 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561916	Spmip6	sperm microtubule inner protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1322222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561916	Spmip6	sperm microtubule inner protein 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561926	Snw1	SNW domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561926	Snw1	SNW domain containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:40608414
1561926	Snw1	SNW domain containing 1	gene	DOID:10907	microcephaly		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:40608414
1561926	Snw1	SNW domain containing 1	gene	DOID:11446	sciatic neuropathy		IDA		D	RGD:11035242|PMID:23389663	20160212	RGD		protein:increased expression:sciatic nerve (rat)	
1561926	Snw1	SNW domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561926	Snw1	SNW domain containing 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1321977	D	RGD:2683526|PMID:19377877	20160212	RGD		DNA:snp:intron: T>A (human) (rs1477261)	
1561926	Snw1	SNW domain containing 1	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:1321977	D	RGD:11035249|PMID:20056645	20160212	RGD		DNA:snp:intron: T>A (human) (rs1477261)	
1561926	Snw1	SNW domain containing 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:40608414
1561926	Snw1	SNW domain containing 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:40608414
1561926	Snw1	SNW domain containing 1	gene	DOID:2355	anemia		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:40608414
1561926	Snw1	SNW domain containing 1	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:1321977	D	RGD:11035252|PMID:24150787	20160212	RGD		protein:increased expression:breast (human)	
1561926	Snw1	SNW domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561926	Snw1	SNW domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561926	Snw1	SNW domain containing 1	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1321977	D	RGD:11035253|PMID:23696020	20160212	RGD		protein:increased expression:liver (human)	
1561926	Snw1	SNW domain containing 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:40608414
1561926	Snw1	SNW domain containing 1	gene	DOID:9000998	Brain Injuries		IEP		D	RGD:11035237|PMID:22965216	20160212	RGD		mRNA, protein:increased expression:cerebral cortex (rat)	
1561926	Snw1	SNW domain containing 1	gene	DOID:9005501	Abnormal Cortical Gyration		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal cortical gyration	PMID:25741868|PMID:40608414
1561926	Snw1	SNW domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561926	Snw1	SNW domain containing 1	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:25741868|PMID:40608414
1561926	Snw1	SNW domain containing 1	gene	DOID:9008091	Optic Nerve Injuries		IEP		D	RGD:11035254|PMID:25074585	20160212	RGD		protein:increased expression:retina (rat)	
1561930	Ccnb1ip1	cyclin B1 interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1342952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561930	Ccnb1ip1	cyclin B1 interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1342952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561930	Ccnb1ip1	cyclin B1 interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1342952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561930	Ccnb1ip1	cyclin B1 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561930	Ccnb1ip1	cyclin B1 interacting protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561930	Ccnb1ip1	cyclin B1 interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561930	Ccnb1ip1	cyclin B1 interacting protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1342952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0050840	cervical dystonia		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1614872	D	RGD:13592920	20201105	MouseDO			
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0070297	primary microcephaly		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0070309	absence epilepsy		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:23615299|PMID:25741868|PMID:27568816|PMID:28492532|PMID:34580403
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:23615299|PMID:25741868|PMID:27568816|PMID:28492532|PMID:34580403
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0080918	polymicrogyria		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0112044	non-syndromic X-linked intellectual disability 98		ISO	RGD:1603497	D	RGD:7240710	20140903	OMIM			
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0112044	non-syndromic X-linked intellectual disability 98		ISO	RGD:1603497	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 98 | ClinVar Annotator: match by term: Mental retardation, X-linked 98 | ClinVar Annotator: match by term: NEXMIF-related condition	PMID:23615299|PMID:25741868|PMID:26467025|PMID:27358180|PMID:27568816|PMID:28492532|PMID:33144681|PMID:34580403
1561931	Nexmif	neurite extension and migration factor	gene	DOID:0112044	non-syndromic X-linked intellectual disability 98		ISS	RGD:1614872	D	RGD:13592920	20230718	MouseDO		OMIM:300912	
1561931	Nexmif	neurite extension and migration factor	gene	DOID:1059	intellectual disability		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:23615299|PMID:25741868|PMID:28492532|PMID:32860008|PMID:33144681
1561931	Nexmif	neurite extension and migration factor	gene	DOID:1059	intellectual disability		ISO	RGD:1603497	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:23615299|PMID:25741868|PMID:28492532|PMID:33144681
1561931	Nexmif	neurite extension and migration factor	gene	DOID:10907	microcephaly		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1561931	Nexmif	neurite extension and migration factor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:11836	clubfoot		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:12128	pica disease		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pica	PMID:25741868
1561931	Nexmif	neurite extension and migration factor	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	
1561931	Nexmif	neurite extension and migration factor	gene	DOID:12849	autistic disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:12859	choreatic disease		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	
1561931	Nexmif	neurite extension and migration factor	gene	DOID:1324	lung cancer		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561931	Nexmif	neurite extension and migration factor	gene	DOID:1596	depressive disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:1826	epilepsy		ISO	RGD:1603497	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
1561931	Nexmif	neurite extension and migration factor	gene	DOID:1826	epilepsy		ISO	RGD:1603497	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:15466006|PMID:23615299|PMID:24307393|PMID:25741868|PMID:27358180|PMID:27568816|PMID:28492532|PMID:31164858|PMID:33144681|PMID:33144682|PMID:34580403
1561931	Nexmif	neurite extension and migration factor	gene	DOID:1827	generalized epilepsy		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:23615299|PMID:25741868|PMID:28492532|PMID:33144681
1561931	Nexmif	neurite extension and migration factor	gene	DOID:2030	anxiety disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:2468	psychotic disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:2841	asthma		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:25741868
1561931	Nexmif	neurite extension and migration factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561931	Nexmif	neurite extension and migration factor	gene	DOID:4362	cervical cancer		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561931	Nexmif	neurite extension and migration factor	gene	DOID:4428	dyslexia		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:535	sleep disorder		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561931	Nexmif	neurite extension and migration factor	gene	DOID:630	genetic disease		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:6364	migraine		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:6543	acne		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:8619	recurrent hypersomnia		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypersomnia	PMID:25741868
1561931	Nexmif	neurite extension and migration factor	gene	DOID:8741	seborrheic dermatitis		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seborrheic dermatitis	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9000053	Headache		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9000419	Benign Familial Neonatal Seizures, 1		ISO	RGD:1603497	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome	PMID:23615299|PMID:25741868|PMID:27358180|PMID:28492532|PMID:29693785|PMID:33144681
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9001031	Retrognathia		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9001224	Striae Distensae		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9001510	Funnel Chest		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9001581	Constipation		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9002510	Focal Epilepsy with Speech Disorder and with or without Mental Retardation		ISO	RGD:1603497	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome	PMID:23615299|PMID:25741868|PMID:27358180|PMID:28492532|PMID:29693785|PMID:33144681
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9003133	Hypertelorism		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9003507	Premature Birth		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9003703	Coxa Valga		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9003816	Macrocephaly		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9004099	Bulimia		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bulimia	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603497	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603497	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9005077	Joint Instability		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:28492532|PMID:34008892
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9007573	Flatfoot		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Calcaneovalgus deformity	PMID:25741868
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9007722	Myoclonus		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:23615299|PMID:25741868|PMID:27568816|PMID:28492532|PMID:33144681|PMID:34580403
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9008023	Memory Disorders		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23615299|PMID:25741868|PMID:27358180|PMID:27568816|PMID:28492532|PMID:34008892|PMID:34580403
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868|PMID:28492532
1561931	Nexmif	neurite extension and migration factor	gene	DOID:9970	obesity		ISO	RGD:1603497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
1561932	Cfap144	cilia and flagella associated protein 144	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2299984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561932	Cfap144	cilia and flagella associated protein 144	gene	DOID:10534	stomach cancer		ISO	RGD:2299984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561932	Cfap144	cilia and flagella associated protein 144	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2299984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561932	Cfap144	cilia and flagella associated protein 144	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2299984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561932	Cfap144	cilia and flagella associated protein 144	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2299984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561933	Blnk	B-cell linker	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561933	Blnk	B-cell linker	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561933	Blnk	B-cell linker	gene	DOID:0060027	agammaglobulinemia 4		ISO	RGD:1347273	D	RGD:7240710	20130221	OMIM			
1561933	Blnk	B-cell linker	gene	DOID:0060027	agammaglobulinemia 4		ISO	RGD:1347273	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive | ClinVar Annotator: match by term: B cell linker protein deficiency | ClinVar Annotator: match by term: agammaglobulinemia 4, autosomal recessive	PMID:10583958|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24582315|PMID:25741868|PMID:28492532|PMID:30619340|PMID:9536098
1561933	Blnk	B-cell linker	gene	DOID:1115	sarcoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561933	Blnk	B-cell linker	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1347273	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1561933	Blnk	B-cell linker	gene	DOID:2583	agammaglobulinemia	susceptibility	ISO	RGD:1347273	D	RGD:1600518|PMID:10583958	20070312	RGD		DNA:splice-site mutation	
1561933	Blnk	B-cell linker	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561933	Blnk	B-cell linker	gene	DOID:4362	cervical cancer		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561933	Blnk	B-cell linker	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561933	Blnk	B-cell linker	gene	DOID:630	genetic disease		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1561937	Lsm6	LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561937	Lsm6	LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561937	Lsm6	LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561937	Lsm6	LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561937	Lsm6	LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561940	Ranbp9	RAN binding protein 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561940	Ranbp9	RAN binding protein 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561940	Ranbp9	RAN binding protein 9	gene	DOID:10534	stomach cancer		ISO	RGD:1344686	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561940	Ranbp9	RAN binding protein 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561940	Ranbp9	RAN binding protein 9	gene	DOID:1115	sarcoma		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561940	Ranbp9	RAN binding protein 9	gene	DOID:12849	autistic disorder		ISO	RGD:1344686	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1561940	Ranbp9	RAN binding protein 9	gene	DOID:3275	thymoma		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561940	Ranbp9	RAN binding protein 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561940	Ranbp9	RAN binding protein 9	gene	DOID:4362	cervical cancer		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561940	Ranbp9	RAN binding protein 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561940	Ranbp9	RAN binding protein 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561940	Ranbp9	RAN binding protein 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561942	Ccdc112	coiled-coil domain containing 112	gene	DOID:1324	lung cancer		ISO	RGD:1606143	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561942	Ccdc112	coiled-coil domain containing 112	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561942	Ccdc112	coiled-coil domain containing 112	gene	DOID:5041	esophageal cancer		ISO	RGD:1606143	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561942	Ccdc112	coiled-coil domain containing 112	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561942	Ccdc112	coiled-coil domain containing 112	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606143	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561942	Ccdc112	coiled-coil domain containing 112	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561953	Coro2b	coronin 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561953	Coro2b	coronin 2B	gene	DOID:0080600	COVID-19		ISO	RGD:1352370	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1561953	Coro2b	coronin 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561953	Coro2b	coronin 2B	gene	DOID:6039	uveal melanoma		ISO	RGD:1352370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1561953	Coro2b	coronin 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561953	Coro2b	coronin 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561954	Wasf1	WASP family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561954	Wasf1	WASP family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561954	Wasf1	WASP family member 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
1561954	Wasf1	WASP family member 1	gene	DOID:0080600	COVID-19		ISO	RGD:1343996	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1561954	Wasf1	WASP family member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1561954	Wasf1	WASP family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561954	Wasf1	WASP family member 1	gene	DOID:12849	autistic disorder		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1561954	Wasf1	WASP family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561954	Wasf1	WASP family member 1	gene	DOID:1826	epilepsy		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1561954	Wasf1	WASP family member 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1561954	Wasf1	WASP family member 1	gene	DOID:2468	psychotic disorder		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	
1561954	Wasf1	WASP family member 1	gene	DOID:3275	thymoma		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561954	Wasf1	WASP family member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561954	Wasf1	WASP family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561954	Wasf1	WASP family member 1	gene	DOID:630	genetic disease		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1561954	Wasf1	WASP family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561954	Wasf1	WASP family member 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1561954	Wasf1	WASP family member 1	gene	DOID:9001367	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES		ISO	RGD:1343996	D	RGD:7240710	20220323	OMIM			
1561954	Wasf1	WASP family member 1	gene	DOID:9001367	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with absent language and variable seizures | ClinVar Annotator: match by term: WASF1-related condition | ClinVar Annotator: match by term: WASF1-related neurodevelopmental disorder	PMID:25741868|PMID:29961568|PMID:32581362
1561954	Wasf1	WASP family member 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
1561954	Wasf1	WASP family member 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1561954	Wasf1	WASP family member 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1561954	Wasf1	WASP family member 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
1561954	Wasf1	WASP family member 1	gene	DOID:936	brain disease		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:10534	stomach cancer		ISO	RGD:1352279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:1324	lung cancer		ISO	RGD:1352279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1352279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:3275	thymoma		ISO	RGD:1352279	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:4362	cervical cancer		ISO	RGD:1352279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:5041	esophageal cancer		ISO	RGD:1352279	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1352279	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20665664
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561955	Dgkh	diacylglycerol kinase, eta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561961	Dcaf6	DDB1 and CUL4 associated factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561961	Dcaf6	DDB1 and CUL4 associated factor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1350946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561961	Dcaf6	DDB1 and CUL4 associated factor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561961	Dcaf6	DDB1 and CUL4 associated factor 6	gene	DOID:1909	melanoma		ISO	RGD:1350946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561961	Dcaf6	DDB1 and CUL4 associated factor 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1350946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1561961	Dcaf6	DDB1 and CUL4 associated factor 6	gene	DOID:3275	thymoma		ISO	RGD:1350946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561961	Dcaf6	DDB1 and CUL4 associated factor 6	gene	DOID:4362	cervical cancer		ISO	RGD:1350946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561961	Dcaf6	DDB1 and CUL4 associated factor 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561961	Dcaf6	DDB1 and CUL4 associated factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561961	Dcaf6	DDB1 and CUL4 associated factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561961	Dcaf6	DDB1 and CUL4 associated factor 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1350946	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
1561961	Dcaf6	DDB1 and CUL4 associated factor 6	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:1350946	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:25741868|PMID:26350515
1561961	Dcaf6	DDB1 and CUL4 associated factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561962	Evi5l	ecotropic viral integration site 5-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561962	Evi5l	ecotropic viral integration site 5-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561962	Evi5l	ecotropic viral integration site 5-like	gene	DOID:10534	stomach cancer		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561962	Evi5l	ecotropic viral integration site 5-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561962	Evi5l	ecotropic viral integration site 5-like	gene	DOID:1115	sarcoma		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561962	Evi5l	ecotropic viral integration site 5-like	gene	DOID:1324	lung cancer		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561962	Evi5l	ecotropic viral integration site 5-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561962	Evi5l	ecotropic viral integration site 5-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561962	Evi5l	ecotropic viral integration site 5-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:10534	stomach cancer		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:1115	sarcoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:1324	lung cancer		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:1909	melanoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:3275	thymoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:4362	cervical cancer		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1348168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348168	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561963	Dock10	dedicator of cytokinesis 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561965	Usp10	ubiquitin specific peptidase 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561965	Usp10	ubiquitin specific peptidase 10	gene	DOID:10534	stomach cancer		ISO	RGD:1352341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561965	Usp10	ubiquitin specific peptidase 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352341	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561965	Usp10	ubiquitin specific peptidase 10	gene	DOID:1115	sarcoma		ISO	RGD:1352341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561965	Usp10	ubiquitin specific peptidase 10	gene	DOID:1324	lung cancer		ISO	RGD:1352341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561965	Usp10	ubiquitin specific peptidase 10	gene	DOID:1909	melanoma		ISO	RGD:1352341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561965	Usp10	ubiquitin specific peptidase 10	gene	DOID:3070	high grade glioma		ISO	RGD:1352341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1561965	Usp10	ubiquitin specific peptidase 10	gene	DOID:4362	cervical cancer		ISO	RGD:1352341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561965	Usp10	ubiquitin specific peptidase 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1352341	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561965	Usp10	ubiquitin specific peptidase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561965	Usp10	ubiquitin specific peptidase 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561965	Usp10	ubiquitin specific peptidase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561965	Usp10	ubiquitin specific peptidase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561965	Usp10	ubiquitin specific peptidase 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561967	Uap1	UDP-N-acetylglucosamine pyrophosphorylase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561967	Uap1	UDP-N-acetylglucosamine pyrophosphorylase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561967	Uap1	UDP-N-acetylglucosamine pyrophosphorylase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561967	Uap1	UDP-N-acetylglucosamine pyrophosphorylase 1	gene	DOID:1115	sarcoma		ISO	RGD:1319461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561967	Uap1	UDP-N-acetylglucosamine pyrophosphorylase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561967	Uap1	UDP-N-acetylglucosamine pyrophosphorylase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561967	Uap1	UDP-N-acetylglucosamine pyrophosphorylase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561967	Uap1	UDP-N-acetylglucosamine pyrophosphorylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561967	Uap1	UDP-N-acetylglucosamine pyrophosphorylase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561972	Kash5	KASH domain containing 5	gene	DOID:0070587	spermatogenic failure 88		ISO	RGD:1602065	D	RGD:7240710	20231101	OMIM			
1561972	Kash5	KASH domain containing 5	gene	DOID:0070587	spermatogenic failure 88		ISO	RGD:1602065	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 88 | ClinVar Annotator: match by term: Spermatogenic failure 88	PMID:25741868
1561972	Kash5	KASH domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1602065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561972	Kash5	KASH domain containing 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561972	Kash5	KASH domain containing 5	gene	DOID:14227	azoospermia		ISO	RGD:1602065	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Azoospermia	PMID:25741868
1561972	Kash5	KASH domain containing 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1561972	Kash5	KASH domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1602065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561972	Kash5	KASH domain containing 5	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1602065	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
1561972	Kash5	KASH domain containing 5	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1602065	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868|PMID:35708642
1561972	Kash5	KASH domain containing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561972	Kash5	KASH domain containing 5	gene	DOID:9008187	Primary Ovarian Insufficiency 22		ISO	RGD:1602065	D	RGD:7240710	20231025	OMIM			
1561972	Kash5	KASH domain containing 5	gene	DOID:9008187	Primary Ovarian Insufficiency 22		ISO	RGD:1602065	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 22	PMID:25741868
1561978	Stpg3	sperm-tail PG-rich repeat containing 3	gene	DOID:1826	epilepsy		ISO	RGD:1604889	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Seizure	
1561980	Surf4	surfeit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561980	Surf4	surfeit 4	gene	DOID:1909	melanoma		ISO	RGD:1322534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561980	Surf4	surfeit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561980	Surf4	surfeit 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1322534	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1561980	Surf4	surfeit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:0050127	sinusitis		ISO	RGD:1347084	D	RGD:5131192|PMID:17063754	20110422	RGD		protein:increased secretion:sinus mucus	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1347084	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583980
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1347084	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis	PMID:21506741|PMID:21506748|PMID:23321605|PMID:23692170|PMID:23695349|PMID:23940607|PMID:24033266|PMID:25926289
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:1347084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2 | ClinVar Annotator: match by term: MUC5B-related disorder	PMID:25741868|PMID:28492532
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:0060971	interstitial lung disease 2	susceptibility	ISO	RGD:1347084	D	RGD:7240710	20240703	OMIM			
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:0080744	antisynthetase syndrome		ISO	RGD:1347084	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Antisynthetase syndrome	PMID:21506741|PMID:21506748|PMID:23321605|PMID:23692170|PMID:23695349|PMID:23940607|PMID:24033266|PMID:25926289
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:10140	dry eye syndrome		ISO	RGD:1623927	D	RGD:7364762|PMID:23272068	20130926	RGD			
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:10534	stomach cancer		ISO	RGD:1347084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:10754	otitis media		ISO	RGD:1347084	D	RGD:7349395|PMID:14690056	20130924	RGD		mRNA:increased expression:middle ear	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:10754	otitis media		ISO	RGD:1623927	D	RGD:7349405|PMID:22539951	20130924	RGD		associated with CHARGE Syndrome	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347084	D	RGD:7349339|PMID:19191526	20130919	RGD		DNA:repeats	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:1115	sarcoma		ISO	RGD:1347084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:1324	lung cancer		ISO	RGD:1347084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:1485	cystic fibrosis		ISO	RGD:1347084	D	RGD:5131191|PMID:17255563	20110422	RGD			
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:1485	cystic fibrosis		ISO	RGD:1347084	D	RGD:5131194|PMID:11845304	20110422	RGD		protein:altered glycosylation:saliva	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:2841	asthma		ISO	RGD:1347084	D	RGD:5131252|PMID:11802783	20110426	RGD		protein:altered expression:sputum	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:2841	asthma		ISO	RGD:1623927	D	RGD:7364763|PMID:11587997	20130926	RGD			
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:2942	bronchiolitis		ISO	RGD:1347084	D	RGD:7349353|PMID:15709052	20110422	RGD		DNA:polymorphisms:promoter:rs885454,rs17235353, rs7115457 (human)	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1347084	D	RGD:5131169|PMID:18776153	20110421	RGD		protein:increased expression:sputum	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:3275	thymoma		ISO	RGD:1347084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1347084	D	RGD:2324986|PMID:7657125	20100526	RGD		mRNA:increased expression:pancreas	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1347084	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:25741868
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:4362	cervical cancer		ISO	RGD:1347084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347084	D	RGD:2324948|PMID:11680592	20100526	RGD		mRNA:decreased expression:bile duct	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:5041	esophageal cancer		ISO	RGD:1347084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:9000575	Respiratory Signs and Symptoms		ISO	RGD:1347084	D	RGD:11554173	20251202	CTD		CTD Direct Evidence: marker/mechanism	PMID:39009092
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:9007425	Diffuse Panbronchiolitis		ISO	RGD:1347084	D	RGD:7349353|PMID:15709052	20130920	RGD		DNA:insertion/deletion	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:1347084	D	RGD:7364744|PMID:16540890	20130925	RGD		mRNA:increased expression:middle ear	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:1623927	D	RGD:7364764|PMID:22336013	20130926	RGD		mRNA:decreased expression:ear	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561983	Muc5b	mucin 5B, oligomeric mucus/gel-forming	gene	DOID:9261	nasopharynx carcinoma		IEP		D	RGD:2325214|PMID:19068094	20130926	RGD			
1561985	Dtna	dystrobrevin, alpha	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1343196	D	RGD:1580893|PMID:11238270	19990101	RGD			
1561985	Dtna	dystrobrevin, alpha	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:24033266|PMID:28492532
1561985	Dtna	dystrobrevin, alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561985	Dtna	dystrobrevin, alpha	gene	DOID:0061184	myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2		ISO	RGD:1343196	D	RGD:7240710	20241030	OMIM			
1561985	Dtna	dystrobrevin, alpha	gene	DOID:0061184	myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2		ISO	RGD:1343196	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DTNA-related disorder | ClinVar Annotator: match by term: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS 2	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34935411
1561985	Dtna	dystrobrevin, alpha	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1343196	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:28492532
1561985	Dtna	dystrobrevin, alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1561985	Dtna	dystrobrevin, alpha	gene	DOID:1115	sarcoma		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561985	Dtna	dystrobrevin, alpha	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
1561985	Dtna	dystrobrevin, alpha	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1343196	D	RGD:8554872	20191112	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
1561985	Dtna	dystrobrevin, alpha	gene	DOID:1324	lung cancer		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561985	Dtna	dystrobrevin, alpha	gene	DOID:1682	congenital heart disease		ISO	RGD:1343196	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:25741868|PMID:28492532
1561985	Dtna	dystrobrevin, alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561985	Dtna	dystrobrevin, alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561985	Dtna	dystrobrevin, alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561985	Dtna	dystrobrevin, alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1343196	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1561985	Dtna	dystrobrevin, alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561985	Dtna	dystrobrevin, alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561985	Dtna	dystrobrevin, alpha	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1343196	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:21520333|PMID:25741868|PMID:28492532
1561985	Dtna	dystrobrevin, alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561985	Dtna	dystrobrevin, alpha	gene	DOID:9007288	Left Ventricular Noncompaction 1		ISO	RGD:1343196	D	RGD:7240710	20180425	OMIM			
1561985	Dtna	dystrobrevin, alpha	gene	DOID:9007288	Left Ventricular Noncompaction 1		ISO	RGD:1343196	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 | ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Left ventricular noncompaction 1	PMID:11238270|PMID:16199547|PMID:17576681|PMID:23861362|PMID:24014171|PMID:24033266|PMID:25305078|PMID:25741868|PMID:28492532|PMID:29247119|PMID:32746448|PMID:33500567|PMID:33789662|PMID:34935411|PMID:35087879|PMID:35148685|PMID:36178741|PMID:9536098
1561985	Dtna	dystrobrevin, alpha	gene	DOID:9009406	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis		ISO	RGD:1343196	D	RGD:8554872	20251209	ClinVar		ClinVar Annotator: match by term: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	PMID:25741868|PMID:36799992
1561985	Dtna	dystrobrevin, alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561985	Dtna	dystrobrevin, alpha	gene	DOID:9849	Meniere's disease		ISO	RGD:1343196	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:25305078|PMID:25741868|PMID:28492532
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1351997	D	RGD:11554173	20170418	CTD		CTD Direct Evidence: marker/mechanism	PMID:8071957
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:10283	prostate cancer		ISO	RGD:1351997	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:1059	intellectual disability		ISO	RGD:1351997	D	RGD:11554173	20170418	CTD		CTD Direct Evidence: marker/mechanism	PMID:8071957
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:1115	sarcoma		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:12849	autistic disorder		ISO	RGD:1351997	D	RGD:11554173	20170418	CTD		CTD Direct Evidence: marker/mechanism	PMID:8071957
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:1351997	D	RGD:11554173	20170418	CTD		CTD Direct Evidence: marker/mechanism	PMID:8071957
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:4362	cervical cancer		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:5041	esophageal cancer		ISO	RGD:1351997	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1351997	D	RGD:11554173	20200805	CTD		CTD Direct Evidence: marker/mechanism	
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:1351997	D	RGD:7240710	20200226	OMIM			
1561988	Mcc	MCC regulator of WNT signaling pathway	gene	DOID:9256	colorectal cancer		ISO	RGD:1351997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1561991	Plch1	phospholipase C, eta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561991	Plch1	phospholipase C, eta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561991	Plch1	phospholipase C, eta 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561991	Plch1	phospholipase C, eta 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561991	Plch1	phospholipase C, eta 1	gene	DOID:1115	sarcoma		ISO	RGD:1349228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561991	Plch1	phospholipase C, eta 1	gene	DOID:1324	lung cancer		ISO	RGD:1349228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561991	Plch1	phospholipase C, eta 1	gene	DOID:1909	melanoma		ISO	RGD:1349228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1561991	Plch1	phospholipase C, eta 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561991	Plch1	phospholipase C, eta 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1561991	Plch1	phospholipase C, eta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561991	Plch1	phospholipase C, eta 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1561991	Plch1	phospholipase C, eta 1	gene	DOID:9001056	Holoprosencephaly 14		ISO	RGD:1349228	D	RGD:7240710	20220608	OMIM			
1561991	Plch1	phospholipase C, eta 1	gene	DOID:9001056	Holoprosencephaly 14		ISO	RGD:1349228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HOLOPROSENCEPHALY 14 | ClinVar Annotator: match by term: Holoprosencephaly 14	PMID:25741868
1561991	Plch1	phospholipase C, eta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561991	Plch1	phospholipase C, eta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:1115	sarcoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:1324	lung cancer		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1561992	Sytl3	synaptotagmin-like 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1561995	Agbl3	AGBL carboxypeptidase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1561995	Agbl3	AGBL carboxypeptidase 3	gene	DOID:0060058	lymphoma		ISO	RGD:1604170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1561995	Agbl3	AGBL carboxypeptidase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1561995	Agbl3	AGBL carboxypeptidase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1561995	Agbl3	AGBL carboxypeptidase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1561995	Agbl3	AGBL carboxypeptidase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1561995	Agbl3	AGBL carboxypeptidase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562000	Vwa2	von Willebrand factor A domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562000	Vwa2	von Willebrand factor A domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562000	Vwa2	von Willebrand factor A domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:10534	stomach cancer		ISO	RGD:1323692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:12712	nephronophthisis		ISO	RGD:1323692	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:12872123|PMID:28492532
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1323692	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323692	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28166811|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29546405|PMID:29596542|PMID:29749045|PMID:31548401|PMID:33193653|PMID:9536098
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323692	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28166811|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29546405|PMID:29596542|PMID:29749045|PMID:30886832|PMID:31263571|PMID:31548401|PMID:32963463|PMID:33193653|PMID:9536098
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323692	D	RGD:8554872	20240514	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29596542|PMID:29749045|PMID:31548401|PMID:33193653
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1323692	D	RGD:11554173	20190514	CTD		CTD Direct Evidence: marker/mechanism	
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323692	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:25741868|PMID:28492532|PMID:29546405
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9256	colorectal cancer		ISO	RGD:1323692	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:19617566|PMID:24038392|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:27153395|PMID:28492532|PMID:29095867|PMID:29749045
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9256	colorectal cancer		ISO	RGD:1323692	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:19617566|PMID:24038392|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:27153395|PMID:28492532|PMID:29095867|PMID:29749045|PMID:34426522|PMID:36315513
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9256	colorectal cancer		ISO	RGD:1323692	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16199547|PMID:17576681|PMID:19617566|PMID:22461326|PMID:24038392|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:27153395|PMID:28492532|PMID:29095867|PMID:29749045|PMID:34426522|PMID:36315513|PMID:9536098
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9256	colorectal cancer		ISO	RGD:1323692	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: AURKA-related condition | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: GALNT12-related condition	PMID:16199547|PMID:17576681|PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29546405|PMID:29596542|PMID:29749045|PMID:31548401|PMID:33193653|PMID:34426522|PMID:36315513|PMID:9536098
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9256	colorectal cancer		ISO	RGD:1323692	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: GALNT12-related condition | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16199547|PMID:17576681|PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29546405|PMID:29596542|PMID:29749045|PMID:31548401|PMID:32191290|PMID:32755332|PMID:33193653|PMID:34426522|PMID:35863823|PMID:36315513|PMID:9536098
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9256	colorectal cancer		ISO	RGD:1323692	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 9 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: GALNT12-related condition | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:16199547|PMID:17576681|PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29546405|PMID:29596542|PMID:29749045|PMID:31263571|PMID:31548401|PMID:32191290|PMID:32755332|PMID:33193653|PMID:34426522|PMID:35863823|PMID:36315513|PMID:38201513|PMID:9536098
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9256	colorectal cancer		ISO	RGD:1323692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 9 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: GALNT12-related condition | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm | ClinVar Annotator: match by term: colorectal cancer, susceptibility to, 1	PMID:17576681|PMID:19617566|PMID:24038392|PMID:24115450|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532|PMID:29095867|PMID:36315513|PMID:9536098
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9256	colorectal cancer		ISO	RGD:1323692	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 9 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: GALNT12-related condition | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm | ClinVar Annotator: match by term: colorectal cancer, susceptibility to, 1	PMID:17576681|PMID:19617566|PMID:24038392|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532|PMID:36315513|PMID:9536098
1562001	Galnt12	polypeptide N-acetylgalactosaminyltransferase 12	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1323692	D	RGD:7240710	20200226	OMIM			
1562003	Bean1	brain expressed, associated with NEDD4, 1	gene	DOID:0050980	spinocerebellar ataxia 31		ISO	RGD:4144982	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562003	Bean1	brain expressed, associated with NEDD4, 1	gene	DOID:0050980	spinocerebellar ataxia 31		ISO	RGD:4144982	D	RGD:7240710	20190315	OMIM			
1562003	Bean1	brain expressed, associated with NEDD4, 1	gene	DOID:0050980	spinocerebellar ataxia 31		ISO	RGD:4144982	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BEAN1-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 31 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 31	
1562003	Bean1	brain expressed, associated with NEDD4, 1	gene	DOID:0060058	lymphoma		ISO	RGD:4144982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562003	Bean1	brain expressed, associated with NEDD4, 1	gene	DOID:5041	esophageal cancer		ISO	RGD:4144982	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562004	Gatad1	GATA zinc finger domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562004	Gatad1	GATA zinc finger domain containing 1	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:13442648	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL	PMID:19105186|PMID:25741868|PMID:28492532
1562004	Gatad1	GATA zinc finger domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562004	Gatad1	GATA zinc finger domain containing 1	gene	DOID:0080476	peroxisome biogenesis disorder 1A		ISO	RGD:10041526	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a	PMID:11389485|PMID:16086329|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:33083013|PMID:9398847
1562004	Gatad1	GATA zinc finger domain containing 1	gene	DOID:0080476	peroxisome biogenesis disorder 1A		ISO	RGD:10056100|RGD:11644378|RGD:11649636|RGD:11654827|RGD:11660835|RGD:12739526|RGD:12739780|RGD:13508754|RGD:13784711|RGD:13787555|RGD:13787905|RGD:13789852|RGD:13790448|RGD:13792124|RGD:13792251|RGD:151727846|RGD:155722680|RGD:155724559|RGD:155724787|RGD:155726038|RGD:155726767|RGD:155728568|RGD:155728606|RGD:155728971|RGD:155729459|RGD:155736196|RGD:155736877|RGD:28867773|RGD:28867776|RGD:28871545|RGD:28871765|RGD:28906658|RGD:28906661|RGD:28906664|RGD:28909156	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger)	
1562004	Gatad1	GATA zinc finger domain containing 1	gene	DOID:0080476	peroxisome biogenesis disorder 1A		ISO	RGD:12739172|RGD:12739473|RGD:13832297|RGD:151885932	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a	PMID:16086329|PMID:16141001|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847
1562004	Gatad1	GATA zinc finger domain containing 1	gene	DOID:0080623	Heimler syndrome 1		ISO	RGD:13827592|RGD:150413530|RGD:150413595|RGD:401950336|RGD:401950337|RGD:401950347|RGD:401950424|RGD:401950426|RGD:401950455|RGD:401950456|RGD:405870846|RGD:405870847|RGD:405870973	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Heimler syndrome 1	PMID:25741868
1562004	Gatad1	GATA zinc finger domain containing 1	gene	DOID:0110441	dilated cardiomyopathy 2B		ISO	RGD:1605644	D	RGD:7240710	20140903	OMIM			
1562004	Gatad1	GATA zinc finger domain containing 1	gene	DOID:0110441	dilated cardiomyopathy 2B		ISO	RGD:1605644	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2b | ClinVar Annotator: match by term: Dilated cardiomyopathy 2B | ClinVar Annotator: match by term: GATAD1-related condition	PMID:17576681|PMID:24033266|PMID:25741868|PMID:27114410|PMID:28492532|PMID:30391667|PMID:9536098
1562004	Gatad1	GATA zinc finger domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562004	Gatad1	GATA zinc finger domain containing 1	gene	DOID:905	Zellweger syndrome		ISO	RGD:1605644	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome	PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28492532|PMID:29261186|PMID:30561787|PMID:30755224|PMID:31628608|PMID:31831025|PMID:9398847|PMID:9398848|PMID:9536098
1562004	Gatad1	GATA zinc finger domain containing 1	gene	DOID:905	Zellweger syndrome		ISO	RGD:1605644	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome	PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31628608|PMID:31831025|PMID:31964843|PMID:32203225|PMID:32483926|PMID:33083013|PMID:33708531|PMID:33955040|PMID:33955814|PMID:34513757|PMID:36046390|PMID:37385119|PMID:9398847|PMID:9398848|PMID:9536098
1562004	Gatad1	GATA zinc finger domain containing 1	gene	DOID:905	Zellweger syndrome		ISO	RGD:1605644	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome	PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31628608|PMID:31831025|PMID:31964843|PMID:32203225|PMID:32483926|PMID:33083013|PMID:33708531|PMID:33955040|PMID:33955814|PMID:34513757|PMID:35322241|PMID:36046390|PMID:37385119|PMID:9398847|PMID:9398848|PMID:9536098
1562006	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:10534	stomach cancer		ISO	RGD:1604579	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562006	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604579	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562006	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:1324	lung cancer		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562006	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:1909	melanoma		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562006	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562006	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562006	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1604579	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562006	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562006	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562006	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562006	Tomm40l	translocase of outer mitochondrial membrane 40 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562008	Cul9	cullin 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562008	Cul9	cullin 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562008	Cul9	cullin 9	gene	DOID:0060058	lymphoma		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562008	Cul9	cullin 9	gene	DOID:10488	imperforate anus		ISO	RGD:1604392	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868
1562008	Cul9	cullin 9	gene	DOID:10534	stomach cancer		ISO	RGD:1604392	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562008	Cul9	cullin 9	gene	DOID:1059	intellectual disability		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
1562008	Cul9	cullin 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562008	Cul9	cullin 9	gene	DOID:1115	sarcoma		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562008	Cul9	cullin 9	gene	DOID:1324	lung cancer		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562008	Cul9	cullin 9	gene	DOID:1657	ventricular septal defect		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1562008	Cul9	cullin 9	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1562008	Cul9	cullin 9	gene	DOID:1909	melanoma		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562008	Cul9	cullin 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562008	Cul9	cullin 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1562008	Cul9	cullin 9	gene	DOID:3275	thymoma		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562008	Cul9	cullin 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562008	Cul9	cullin 9	gene	DOID:4362	cervical cancer		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562008	Cul9	cullin 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562008	Cul9	cullin 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562008	Cul9	cullin 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1604392	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562008	Cul9	cullin 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562008	Cul9	cullin 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562008	Cul9	cullin 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562008	Cul9	cullin 9	gene	DOID:848	arthritis		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:25741868
1562008	Cul9	cullin 9	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:25741868
1562008	Cul9	cullin 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562008	Cul9	cullin 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562008	Cul9	cullin 9	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:25741868
1562008	Cul9	cullin 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562008	Cul9	cullin 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562009	Edc4	enhancer of mRNA decapping 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562009	Edc4	enhancer of mRNA decapping 4	gene	DOID:10534	stomach cancer		ISO	RGD:1606564	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562009	Edc4	enhancer of mRNA decapping 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562009	Edc4	enhancer of mRNA decapping 4	gene	DOID:1324	lung cancer		ISO	RGD:1606564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562009	Edc4	enhancer of mRNA decapping 4	gene	DOID:1909	melanoma		ISO	RGD:1606564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562009	Edc4	enhancer of mRNA decapping 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562009	Edc4	enhancer of mRNA decapping 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606564	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562009	Edc4	enhancer of mRNA decapping 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562009	Edc4	enhancer of mRNA decapping 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562009	Edc4	enhancer of mRNA decapping 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562009	Edc4	enhancer of mRNA decapping 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562010	Ssuh2	ssu-2 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562010	Ssuh2	ssu-2 homolog	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1603044	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:17897828|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26467025|PMID:27066573|PMID:27312022|PMID:27854218|PMID:28492532
1562010	Ssuh2	ssu-2 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562010	Ssuh2	ssu-2 homolog	gene	DOID:0070706	dentin dysplasia type IC		ISO	RGD:1603044	D	RGD:7240710	20260603	OMIM			
1562010	Ssuh2	ssu-2 homolog	gene	DOID:0070706	dentin dysplasia type IC		ISO	RGD:1603044	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE IC	
1562010	Ssuh2	ssu-2 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1603044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562010	Ssuh2	ssu-2 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562010	Ssuh2	ssu-2 homolog	gene	DOID:2843	long QT syndrome		ISO	RGD:1603044	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12082049|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14672715|PMID:15314133|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17897828|PMID:18487559|PMID:18583131|PMID:18606002|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26185955|PMID:26467025|PMID:27061274|PMID:27066573|PMID:27312022|PMID:27854218|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536098
1562010	Ssuh2	ssu-2 homolog	gene	DOID:701	dentin dysplasia		ISS	RGD:1557646	D	RGD:13592920	20180518	MouseDO		OMIM:125400 | OMIM:125420	
1562012	Lyrm9	LYR motif containing 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:3210028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562012	Lyrm9	LYR motif containing 9	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:3210028	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1562012	Lyrm9	LYR motif containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:3210028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562017	Lrrc40	leucine rich repeat containing 40	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562017	Lrrc40	leucine rich repeat containing 40	gene	DOID:0060058	lymphoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562017	Lrrc40	leucine rich repeat containing 40	gene	DOID:10534	stomach cancer		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562017	Lrrc40	leucine rich repeat containing 40	gene	DOID:1115	sarcoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562017	Lrrc40	leucine rich repeat containing 40	gene	DOID:12849	autistic disorder		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:33749153
1562017	Lrrc40	leucine rich repeat containing 40	gene	DOID:1324	lung cancer		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562017	Lrrc40	leucine rich repeat containing 40	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562017	Lrrc40	leucine rich repeat containing 40	gene	DOID:4362	cervical cancer		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562017	Lrrc40	leucine rich repeat containing 40	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562017	Lrrc40	leucine rich repeat containing 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562017	Lrrc40	leucine rich repeat containing 40	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562017	Lrrc40	leucine rich repeat containing 40	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562017	Lrrc40	leucine rich repeat containing 40	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562017	Lrrc40	leucine rich repeat containing 40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562018	Tmem260	transmembrane protein 260	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562018	Tmem260	transmembrane protein 260	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562018	Tmem260	transmembrane protein 260	gene	DOID:0060060	non-Hodgkin lymphoma	disease_progression	ISO	RGD:1354503	D	RGD:155882447|PMID:24831772	20230118	RGD		DNA:SNP: 3'UTR:rs4901706 (human)	
1562018	Tmem260	transmembrane protein 260	gene	DOID:0081312	T-cell non-Hodgkin lymphoma	disease_progression	ISO	RGD:1354503	D	RGD:155882447|PMID:24831772	20230118	RGD		DNA:SNP: 3'UTR:rs4901706 (human)	
1562018	Tmem260	transmembrane protein 260	gene	DOID:10534	stomach cancer		ISO	RGD:1354503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562018	Tmem260	transmembrane protein 260	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:1354503	D	RGD:155882453|PMID:27602096	20230119	RGD		DNA:SNP: 3'UTR:rs4901706 (human)	
1562018	Tmem260	transmembrane protein 260	gene	DOID:1115	sarcoma		ISO	RGD:1354503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562018	Tmem260	transmembrane protein 260	gene	DOID:1324	lung cancer		ISO	RGD:1354503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562018	Tmem260	transmembrane protein 260	gene	DOID:1909	melanoma		ISO	RGD:1354503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562018	Tmem260	transmembrane protein 260	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562018	Tmem260	transmembrane protein 260	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562018	Tmem260	transmembrane protein 260	gene	DOID:5041	esophageal cancer		ISO	RGD:1354503	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562018	Tmem260	transmembrane protein 260	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562018	Tmem260	transmembrane protein 260	gene	DOID:630	genetic disease		ISO	RGD:1354503	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1562018	Tmem260	transmembrane protein 260	gene	DOID:8488	polyhydramnios		ISO	RGD:1354503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1562018	Tmem260	transmembrane protein 260	gene	DOID:9003752	Persistent Truncus Arteriosus		ISO	RGD:1354503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Persistent truncus arteriosus	PMID:25741868
1562018	Tmem260	transmembrane protein 260	gene	DOID:9005528	Structural Heart Defects and Renal Anomalies Syndrome		ISO	RGD:1354503	D	RGD:7240710	20190315	OMIM			
1562018	Tmem260	transmembrane protein 260	gene	DOID:9005528	Structural Heart Defects and Renal Anomalies Syndrome		ISO	RGD:1354503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME | ClinVar Annotator: match by term: Structural heart defects and renal anomalies syndrome | ClinVar Annotator: match by term: TMEM260-related condition	PMID:25741868|PMID:28318500|PMID:28492532|PMID:37228400
1562018	Tmem260	transmembrane protein 260	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1354503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1562018	Tmem260	transmembrane protein 260	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562022	Cybc1	cytochrome b-245 chaperone 1	gene	DOID:0070368	autosomal recessive chronic granulomatous disease 5		ISO	RGD:1606782	D	RGD:7240710	20200722	OMIM			
1562022	Cybc1	cytochrome b-245 chaperone 1	gene	DOID:0070368	autosomal recessive chronic granulomatous disease 5		ISO	RGD:1606782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, 5	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28600779|PMID:30312704|PMID:9536098
1562022	Cybc1	cytochrome b-245 chaperone 1	gene	DOID:1324	lung cancer		ISO	RGD:1606782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562022	Cybc1	cytochrome b-245 chaperone 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562022	Cybc1	cytochrome b-245 chaperone 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562025	Lingo4	leucine rich repeat and Ig domain containing 4	gene	DOID:0080918	polymicrogyria		ISO	RGD:1606911	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:29706646
1562025	Lingo4	leucine rich repeat and Ig domain containing 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1606911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1562025	Lingo4	leucine rich repeat and Ig domain containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562027	Poglut3	protein O-glucosyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562027	Poglut3	protein O-glucosyltransferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562027	Poglut3	protein O-glucosyltransferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562027	Poglut3	protein O-glucosyltransferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347684	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562027	Poglut3	protein O-glucosyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562027	Poglut3	protein O-glucosyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:0060058	lymphoma		ISO	RGD:1346481	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1346481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:1115	sarcoma		ISO	RGD:1346481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:1909	melanoma		ISO	RGD:1346481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1346481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1346481	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562028	Map4k5	mitogen-activated protein kinase kinase kinase kinase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562029	Kiaa2012	KIAA2012 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:9586122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562029	Kiaa2012	KIAA2012 homolog	gene	DOID:1115	sarcoma		ISO	RGD:9586122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562029	Kiaa2012	KIAA2012 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:9586122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562029	Kiaa2012	KIAA2012 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:9586122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562029	Kiaa2012	KIAA2012 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:9586122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562034	Cep41	centrosomal protein 41	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1346248	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:25741868|PMID:28492532
1562034	Cep41	centrosomal protein 41	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1346248	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21438139
1562034	Cep41	centrosomal protein 41	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial Autism Spectrum Disorder	PMID:25741868|PMID:28492532|PMID:30664616
1562034	Cep41	centrosomal protein 41	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:22246503|PMID:28492532
1562034	Cep41	centrosomal protein 41	gene	DOID:0110984	Joubert syndrome 15		ISO	RGD:1346248	D	RGD:7240710	20140911	OMIM			
1562034	Cep41	centrosomal protein 41	gene	DOID:0110984	Joubert syndrome 15		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEP41-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 15 | ClinVar Annotator: match by term: Joubert syndrome 15	PMID:16199547|PMID:17576681|PMID:21438139|PMID:22246503|PMID:25741868|PMID:28492532|PMID:30664616|PMID:9536098
1562034	Cep41	centrosomal protein 41	gene	DOID:0111004	Joubert syndrome 9		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 9/15, DIGENIC	PMID:22246503|PMID:28492532
1562034	Cep41	centrosomal protein 41	gene	DOID:1059	intellectual disability		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1562034	Cep41	centrosomal protein 41	gene	DOID:1324	lung cancer		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562034	Cep41	centrosomal protein 41	gene	DOID:1909	melanoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562034	Cep41	centrosomal protein 41	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562034	Cep41	centrosomal protein 41	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562034	Cep41	centrosomal protein 41	gene	DOID:4362	cervical cancer		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562034	Cep41	centrosomal protein 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562034	Cep41	centrosomal protein 41	gene	DOID:630	genetic disease		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22246503|PMID:28492532
1562034	Cep41	centrosomal protein 41	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562034	Cep41	centrosomal protein 41	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:22246503|PMID:28492532
1562034	Cep41	centrosomal protein 41	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562034	Cep41	centrosomal protein 41	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:28492532
1562034	Cep41	centrosomal protein 41	gene	DOID:9005077	Joint Instability		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:22246503|PMID:28492532
1562034	Cep41	centrosomal protein 41	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:22246503|PMID:28492532
1562034	Cep41	centrosomal protein 41	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562034	Cep41	centrosomal protein 41	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562034	Cep41	centrosomal protein 41	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562034	Cep41	centrosomal protein 41	gene	DOID:9250	acrocallosal syndrome		ISO	RGD:1346248	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 12/15, DIGENIC	PMID:22246503|PMID:28492532
1562034	Cep41	centrosomal protein 41	gene	DOID:9256	colorectal cancer		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:17576681|PMID:28492532|PMID:9536098
1562037	Jcad	junctional cadherin 5 associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562037	Jcad	junctional cadherin 5 associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562037	Jcad	junctional cadherin 5 associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562037	Jcad	junctional cadherin 5 associated	gene	DOID:1909	melanoma		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562037	Jcad	junctional cadherin 5 associated	gene	DOID:3393	coronary artery disease		ISO	RGD:1346091	D	RGD:11554173	20250708	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378988|PMID:34961328
1562037	Jcad	junctional cadherin 5 associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562037	Jcad	junctional cadherin 5 associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562037	Jcad	junctional cadherin 5 associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562037	Jcad	junctional cadherin 5 associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1346782	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration	
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:0050795	cone dystrophy		ISO	RGD:1346782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cone dystrophy	
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:0080314	cone-rod dystrophy 14		ISO	RGD:1346782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone dystrophy 3	PMID:28492532|PMID:30718709
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:0081023	retinal cone dystrophy 4		ISO	RGD:1346782	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:0081023	retinal cone dystrophy 4		ISO	RGD:1346782	D	RGD:7240710	20130221	OMIM			
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:0081023	retinal cone dystrophy 4		ISO	RGD:1346782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CACNA2D4-related condition | ClinVar Annotator: match by term: CACNA2D4-related retinopathy | ClinVar Annotator: match by term: Retinal cone dystrophy 4	PMID:16877424|PMID:17033974|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26002053|PMID:26560832|PMID:28492532|PMID:30718709|PMID:37510321|PMID:9536098
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1346782	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:28492532|PMID:32531858
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:11830	myopia		ISO	RGD:1346782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:1324	lung cancer		ISO	RGD:1346782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:1909	melanoma		ISO	RGD:1346782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:3275	thymoma		ISO	RGD:1346782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:4362	cervical cancer		ISO	RGD:1346782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:5679	retinal disease		ISO	RGD:1346782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:17033974|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30902645|PMID:36460718
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:5723	optic atrophy		ISO	RGD:1346782	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:630	genetic disease		ISO	RGD:1346782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1346782	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:17576681|PMID:25132214|PMID:25741868|PMID:26560832|PMID:28492532|PMID:31964843|PMID:9536098
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562038	Cacna2d4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562041	Rnf130	ring finger protein 130	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562041	Rnf130	ring finger protein 130	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562041	Rnf130	ring finger protein 130	gene	DOID:10534	stomach cancer		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562041	Rnf130	ring finger protein 130	gene	DOID:1909	melanoma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562041	Rnf130	ring finger protein 130	gene	DOID:3070	high grade glioma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562041	Rnf130	ring finger protein 130	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562041	Rnf130	ring finger protein 130	gene	DOID:4362	cervical cancer		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562041	Rnf130	ring finger protein 130	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562041	Rnf130	ring finger protein 130	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562041	Rnf130	ring finger protein 130	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1343865	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1562041	Rnf130	ring finger protein 130	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562041	Rnf130	ring finger protein 130	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562041	Rnf130	ring finger protein 130	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1343297	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27992414
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:0060954	Holoprosencephaly 13, X-linked		ISO	RGD:1343297	D	RGD:7240710	20200429	OMIM			
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:0060954	Holoprosencephaly 13, X-linked		ISO	RGD:1343297	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: HOLOPROSENCEPHALY 13, X-LINKED | ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked	PMID:25741868|PMID:28296084|PMID:28492532|PMID:31334757
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:0080798	myeloid leukemia associated with Down Syndrome		ISO	RGD:1343297	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056718
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:0080833	laryngomalacia		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:28492532
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:0111845	Mullegama-Klein-Martinez syndrome		ISO	RGD:1343297	D	RGD:7240710	20190424	OMIM			
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:0111845	Mullegama-Klein-Martinez syndrome		ISO	RGD:1343297	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MULLEGAMA-KLEIN-MARTINEZ SYNDROME | ClinVar Annotator: match by term: Mullegama-Klein-Martinez syndrome | ClinVar Annotator: match by term: STAG2-related condition | ClinVar Annotator: match by term: STAG2-related disorder	PMID:25741868|PMID:28492532|PMID:30158690|PMID:30447054|PMID:31334757|PMID:33619735
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:1059	intellectual disability		ISO	RGD:1343297	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:10907	microcephaly		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1343297	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343297	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121789|PMID:24121791|PMID:24121792
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:1115	sarcoma		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:11383	cryptorchidism		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:28492532
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:1205	allergic disease		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:12849	autistic disorder		ISO	RGD:1343297	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:1324	lung cancer		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:21852505|PMID:22668012|PMID:26871722|PMID:35101336
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:1596	depressive disorder		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:1826	epilepsy		ISO	RGD:1343297	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:1909	melanoma		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1343297	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121792
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:2841	asthma		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:3070	high grade glioma		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:3275	thymoma		ISO	RGD:1343297	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ewing sarcoma	PMID:27993330
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:4621	holoprosencephaly		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:5723	optic atrophy		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:630	genetic disease		ISO	RGD:1343297	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:674	cleft palate		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:8692	myeloid leukemia		ISO	RGD:1343297	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23955599
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9000053	Headache		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9000641	Pain		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:28492532
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9001581	Constipation		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9003133	Hypertelorism		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:28492532
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9003279	Joint Dislocations		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9003591	Telecanthus		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1343297	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Venous thrombosis, susceptibility to	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343297	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9004538	Hearing Loss		ISO	RGD:1343297	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9005501	Abnormal Cortical Gyration		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal cortical gyration	PMID:25741868
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:28492532
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:26871722|PMID:28492532|PMID:35101336
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9007573	Flatfoot		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9007661	Dwarfism		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343297	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9008214	Genu Valgum		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343297	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562042	Stag2	STAG2 cohesin complex component	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1343297	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:25741868
1562044	Zfp583	zinc finger protein 583	gene	DOID:1324	lung cancer		ISO	RGD:1350167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562044	Zfp583	zinc finger protein 583	gene	DOID:5041	esophageal cancer		ISO	RGD:1350167	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562044	Zfp583	zinc finger protein 583	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562044	Zfp583	zinc finger protein 583	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562045	Apcdd1l	APC down-regulated 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562045	Apcdd1l	APC down-regulated 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562046	Agk	acylglycerol kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562046	Agk	acylglycerol kinase	gene	DOID:0080132	Sengers syndrome		ISO	RGD:1352363	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23266196
1562046	Agk	acylglycerol kinase	gene	DOID:0080132	Sengers syndrome		ISO	RGD:1352363	D	RGD:7240710	20141015	OMIM			
1562046	Agk	acylglycerol kinase	gene	DOID:0080132	Sengers syndrome		ISO	RGD:1352363	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AGK-related disorder | ClinVar Annotator: match by term: Cardiomyopathy and cataract | ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE) | ClinVar Annotator: match by term: SENGERS SYNDROME | ClinVar Annotator: match by term: Sengers syndrome	PMID:16199547|PMID:17576681|PMID:22277967|PMID:22284826|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28868593|PMID:30634555|PMID:34164355|PMID:34440436|PMID:34948281|PMID:38703036|PMID:9536098
1562046	Agk	acylglycerol kinase	gene	DOID:0110245	cataract 38		ISO	RGD:1352363	D	RGD:7240710	20140911	OMIM			
1562046	Agk	acylglycerol kinase	gene	DOID:0110245	cataract 38		ISO	RGD:1352363	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AGK-Related Disorders | ClinVar Annotator: match by term: AGK-related disorder | ClinVar Annotator: match by term: CATARACT 38 | ClinVar Annotator: match by term: Cataract 38 | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 5	PMID:16199547|PMID:17576681|PMID:22277967|PMID:22284826|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25640679|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28868593|PMID:29625556|PMID:30634555|PMID:31303091|PMID:34440436|PMID:34948281|PMID:9536098
1562046	Agk	acylglycerol kinase	gene	DOID:0111414	trichohepatoenteric syndrome		ISO	RGD:1352363	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA	PMID:22284826|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28868593
1562046	Agk	acylglycerol kinase	gene	DOID:0111415	trichohepatoenteric syndrome 1		ISO	RGD:1352363	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1	PMID:22284826|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28868593
1562046	Agk	acylglycerol kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562046	Agk	acylglycerol kinase	gene	DOID:1115	sarcoma		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562046	Agk	acylglycerol kinase	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
1562046	Agk	acylglycerol kinase	gene	DOID:1324	lung cancer		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562046	Agk	acylglycerol kinase	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1562046	Agk	acylglycerol kinase	gene	DOID:2030	anxiety disorder		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1562046	Agk	acylglycerol kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562046	Agk	acylglycerol kinase	gene	DOID:2394	ovarian cancer		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1562046	Agk	acylglycerol kinase	gene	DOID:3650	lactic acidosis		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868|PMID:30634555|PMID:34440436|PMID:34948281
1562046	Agk	acylglycerol kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562046	Agk	acylglycerol kinase	gene	DOID:480	movement disease		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1562046	Agk	acylglycerol kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1352363	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562046	Agk	acylglycerol kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1562046	Agk	acylglycerol kinase	gene	DOID:630	genetic disease		ISO	RGD:1352363	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1562046	Agk	acylglycerol kinase	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1352363	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532
1562046	Agk	acylglycerol kinase	gene	DOID:9003132	Sialorrhea		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	
1562046	Agk	acylglycerol kinase	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
1562046	Agk	acylglycerol kinase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1562046	Agk	acylglycerol kinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:22415731|PMID:24088041|PMID:25741868|PMID:26582918|PMID:26633545
1562046	Agk	acylglycerol kinase	gene	DOID:9008189	Pyelectasis		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868|PMID:30634555|PMID:34440436|PMID:34948281
1562046	Agk	acylglycerol kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562047	Cks2	CDC28 protein kinase regulatory subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562047	Cks2	CDC28 protein kinase regulatory subunit 2	gene	DOID:0080600	COVID-19		ISO	RGD:1348782	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1562047	Cks2	CDC28 protein kinase regulatory subunit 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1348782	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1562047	Cks2	CDC28 protein kinase regulatory subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562047	Cks2	CDC28 protein kinase regulatory subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562047	Cks2	CDC28 protein kinase regulatory subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562048	St6galnac1	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	gene	DOID:0050589	inflammatory bowel disease		ISS	RGD:1558378	D	RGD:13592920	20230622	MouseDO			
1562048	St6galnac1	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562048	St6galnac1	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562048	St6galnac1	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1349171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562048	St6galnac1	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1349171	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	PMID:25741868
1562048	St6galnac1	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562048	St6galnac1	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349171	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562048	St6galnac1	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562048	St6galnac1	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562048	St6galnac1	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1349671	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25741868
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:0060313	tracheomalacia		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:25741868
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:0090057	X-linked dystonia-parkinsonism		ISO	RGD:1349671	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:0090057	X-linked dystonia-parkinsonism		ISO	RGD:1349671	D	RGD:7240710	20130221	OMIM			
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:0090057	X-linked dystonia-parkinsonism		ISO	RGD:1349671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, X-LINKED | ClinVar Annotator: match by term: TAF1-related condition | ClinVar Annotator: match by term: X-Linked Dystonia-Parkinsonism Syndrome | ClinVar Annotator: match by term: X-linked dystonia-parkinsonism	PMID:25741868|PMID:28492532|PMID:32396742
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:10488	imperforate anus		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1349671	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:31341187
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:11836	clubfoot		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:1205	allergic disease		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:12128	pica disease		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pica	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:12849	autistic disorder		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1349671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:1432	blindness		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:1824	status epilepticus		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:1909	melanoma		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1349671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:3275	thymoma		ISO	RGD:1349671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:540	strabismus		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:543	dystonia		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:6132	bronchitis		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent bronchitis	PMID:25741868
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:630	genetic disease		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31646703
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:674	cleft palate		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:8927	learning disability		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Learning disability | ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:31341187
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:31341187
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9001581	Constipation		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9001981	Weight Loss		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:31341187
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:25741868
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Childhood obesity	PMID:25741868|PMID:31341187
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9004751	Nausea		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nausea	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9004866	Ataxia		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1349671	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:26637982
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9007042	syndromic X-linked intellectual disability 33		ISO	RGD:1349671	D	RGD:7240710	20190315	OMIM			
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9007042	syndromic X-linked intellectual disability 33		ISO	RGD:1349671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33 | ClinVar Annotator: match by term: Intellectual disability, X-linked, syndromic 33 | ClinVar Annotator: match by term: TAF1-related syndromic intellectual disability	PMID:17576681|PMID:20301662|PMID:25741868|PMID:26637982|PMID:28492532|PMID:29302074|PMID:31341187|PMID:31646703|PMID:32396742|PMID:33004838|PMID:36879111|PMID:9536098
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9008385	Vomiting		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1349671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:936	brain disease		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
1562050	Taf1	TATA-box binding protein associated factor 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1349671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	
1562052	Nsl1	NSL1 component of MIS12 kinetochore complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562052	Nsl1	NSL1 component of MIS12 kinetochore complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562052	Nsl1	NSL1 component of MIS12 kinetochore complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562052	Nsl1	NSL1 component of MIS12 kinetochore complex	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562052	Nsl1	NSL1 component of MIS12 kinetochore complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562056	Marveld3	MARVEL domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562056	Marveld3	MARVEL domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562056	Marveld3	MARVEL domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1347121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562056	Marveld3	MARVEL domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562056	Marveld3	MARVEL domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562057	Frmd7	FERM domain containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562057	Frmd7	FERM domain containing 7	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ocular albinism	PMID:25741868
1562057	Frmd7	FERM domain containing 7	gene	DOID:0111790	congenital nystagmus 1		ISO	RGD:1352948	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:19892780
1562057	Frmd7	FERM domain containing 7	gene	DOID:0111790	congenital nystagmus 1		ISO	RGD:1352948	D	RGD:7240710	20130221	OMIM			
1562057	Frmd7	FERM domain containing 7	gene	DOID:0111790	congenital nystagmus 1		ISO	RGD:1352948	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FRMD7-related condition | ClinVar Annotator: match by term: Infantile nystagmus, X-linked | ClinVar Annotator: match by term: NYSTAGMUS 1, CONGENITAL, X-LINKED | ClinVar Annotator: match by term: Nystagmus 1, congenital,  X- linked | ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked | ClinVar Annotator: match by term: Nystagmus, congenital motor, 1 | ClinVar Annotator: match by term: nystagmus 1, congenital, X-linked	PMID:17013395|PMID:17893669|PMID:18087240|PMID:18431453|PMID:19072571|PMID:19484379|PMID:21303855|PMID:22262942|PMID:22490987|PMID:23406872|PMID:24513357|PMID:25678693|PMID:25741868|PMID:27081518|PMID:28492532|PMID:28623544|PMID:28656292|PMID:30025128|PMID:32446246|PMID:33732697|PMID:35052368|PMID:35705619
1562057	Frmd7	FERM domain containing 7	gene	DOID:0111790	congenital nystagmus 1		ISS	RGD:1619663	D	RGD:13592920	20230718	MouseDO		OMIM:310700	
1562057	Frmd7	FERM domain containing 7	gene	DOID:630	genetic disease		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25916882|PMID:28492532
1562057	Frmd7	FERM domain containing 7	gene	DOID:8501	fundus dystrophy		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1562057	Frmd7	FERM domain containing 7	gene	DOID:9001386	Albinism		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:25741868
1562057	Frmd7	FERM domain containing 7	gene	DOID:9005077	Joint Instability		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:26268155
1562057	Frmd7	FERM domain containing 7	gene	DOID:9005901	Nystagmus 5, Infantile Periodic Alternating		ISO	RGD:1352948	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED	PMID:25741868|PMID:28492532|PMID:28656292|PMID:32446246|PMID:35705619
1562057	Frmd7	FERM domain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
1562057	Frmd7	FERM domain containing 7	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1352948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1562059	Them5	thioesterase superfamily member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562062	Irag2	inositol 1,4,5-triphosphate receptor associated 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562062	Irag2	inositol 1,4,5-triphosphate receptor associated 2	gene	DOID:1324	lung cancer		ISO	RGD:1343006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562062	Irag2	inositol 1,4,5-triphosphate receptor associated 2	gene	DOID:1909	melanoma		ISO	RGD:1343006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562062	Irag2	inositol 1,4,5-triphosphate receptor associated 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562062	Irag2	inositol 1,4,5-triphosphate receptor associated 2	gene	DOID:3275	thymoma		ISO	RGD:1343006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562062	Irag2	inositol 1,4,5-triphosphate receptor associated 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562062	Irag2	inositol 1,4,5-triphosphate receptor associated 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562062	Irag2	inositol 1,4,5-triphosphate receptor associated 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562062	Irag2	inositol 1,4,5-triphosphate receptor associated 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562062	Irag2	inositol 1,4,5-triphosphate receptor associated 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562062	Irag2	inositol 1,4,5-triphosphate receptor associated 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562063	Wdr97	WD repeat domain 97	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562063	Wdr97	WD repeat domain 97	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562063	Wdr97	WD repeat domain 97	gene	DOID:1115	sarcoma		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562063	Wdr97	WD repeat domain 97	gene	DOID:3275	thymoma		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562063	Wdr97	WD repeat domain 97	gene	DOID:4362	cervical cancer		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562063	Wdr97	WD repeat domain 97	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562063	Wdr97	WD repeat domain 97	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562063	Wdr97	WD repeat domain 97	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562071	Sla2	Src-like-adaptor 2	gene	DOID:1909	melanoma		ISO	RGD:1320351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562071	Sla2	Src-like-adaptor 2	gene	DOID:3275	thymoma		ISO	RGD:1320351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562071	Sla2	Src-like-adaptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562071	Sla2	Src-like-adaptor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562074	Tmem151b	transmembrane protein 151B	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1350981	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1562074	Tmem151b	transmembrane protein 151B	gene	DOID:5041	esophageal cancer		ISO	RGD:1350981	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562075	Zdhhc15	zDHHC palmitoyltransferase 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562075	Zdhhc15	zDHHC palmitoyltransferase 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562075	Zdhhc15	zDHHC palmitoyltransferase 15	gene	DOID:0070095	oculocutaneous albinism type IB		ISO	RGD:1345155	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Oculocutaneous albinism type 1B	PMID:25741868
1562075	Zdhhc15	zDHHC palmitoyltransferase 15	gene	DOID:0112043	non-syndromic X-linked intellectual disability 91		ISO	RGD:1345155	D	RGD:8554872	20220503	ClinVar		ClinVar Annotator: match by term: Intellectual disability, X-linked 91	PMID:15915161|PMID:25741868
1562075	Zdhhc15	zDHHC palmitoyltransferase 15	gene	DOID:10534	stomach cancer		ISO	RGD:1345155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562075	Zdhhc15	zDHHC palmitoyltransferase 15	gene	DOID:10965	spastic diplegia		ISO	RGD:1345155	D	RGD:8554872	20210209	ClinVar		ClinVar Annotator: match by term: Spastic Diplegia	
1562075	Zdhhc15	zDHHC palmitoyltransferase 15	gene	DOID:1115	sarcoma		ISO	RGD:1345155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562075	Zdhhc15	zDHHC palmitoyltransferase 15	gene	DOID:1324	lung cancer		ISO	RGD:1345155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562075	Zdhhc15	zDHHC palmitoyltransferase 15	gene	DOID:4362	cervical cancer		ISO	RGD:1345155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562075	Zdhhc15	zDHHC palmitoyltransferase 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562075	Zdhhc15	zDHHC palmitoyltransferase 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562075	Zdhhc15	zDHHC palmitoyltransferase 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562075	Zdhhc15	zDHHC palmitoyltransferase 15	gene	DOID:9007661	Dwarfism		ISO	RGD:1345155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1562075	Zdhhc15	zDHHC palmitoyltransferase 15	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1562076	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562076	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349782	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562076	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562076	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562076	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562076	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562076	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562076	Fam3a	FAM3 metabolism regulating signaling molecule A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562079	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:0060537	mitochondrial complex II deficiency		ISO	RGD:2307455	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Succinate CoQ reductase deficiency	PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:33162331
1562079	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:10579	leukodystrophy		ISO	RGD:2307455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
1562079	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:630	genetic disease		ISO	RGD:2307455	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1562079	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:8725	vascular dementia		ISO	RGD:2307455	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19465911
1562079	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:9000972	Fever		ISO	RGD:2307455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868
1562079	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:9003055	Mitochondrial Complex II Deficiency Nuclear Type 1		ISO	RGD:2307455	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1	PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:33162331
1562079	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:2307455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1562079	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:9008405	Mitochondrial Complex II Deficiency Nuclear Type 2		ISO	RGD:2307455	D	RGD:7240710	20210203	OMIM			
1562079	Sdhaf1	succinate dehydrogenase complex assembly factor 1	gene	DOID:9008405	Mitochondrial Complex II Deficiency Nuclear Type 2		ISO	RGD:2307455	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 | ClinVar Annotator: match by term: SDHAF1-related condition	PMID:19465911|PMID:22995659|PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:33162331
1562084	Tmem266	transmembrane protein 266	gene	DOID:10534	stomach cancer		ISO	RGD:1351477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562084	Tmem266	transmembrane protein 266	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562084	Tmem266	transmembrane protein 266	gene	DOID:3275	thymoma		ISO	RGD:1351477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562084	Tmem266	transmembrane protein 266	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562084	Tmem266	transmembrane protein 266	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562084	Tmem266	transmembrane protein 266	gene	DOID:6039	uveal melanoma		ISO	RGD:1351477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1562084	Tmem266	transmembrane protein 266	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562084	Tmem266	transmembrane protein 266	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562089	Sack1f	scaffolding CK1 anchoring protein F	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562089	Sack1f	scaffolding CK1 anchoring protein F	gene	DOID:14228	oligospermia		ISO	RGD:1602306	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868
1562091	Ppm1n	protein phosphatase, Mg2+/Mn2+ dependent 1N	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562091	Ppm1n	protein phosphatase, Mg2+/Mn2+ dependent 1N	gene	DOID:1115	sarcoma		ISO	RGD:1604993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562091	Ppm1n	protein phosphatase, Mg2+/Mn2+ dependent 1N	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562091	Ppm1n	protein phosphatase, Mg2+/Mn2+ dependent 1N	gene	DOID:4362	cervical cancer		ISO	RGD:1604993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562091	Ppm1n	protein phosphatase, Mg2+/Mn2+ dependent 1N	gene	DOID:5041	esophageal cancer		ISO	RGD:1604993	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562091	Ppm1n	protein phosphatase, Mg2+/Mn2+ dependent 1N	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562091	Ppm1n	protein phosphatase, Mg2+/Mn2+ dependent 1N	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562095	Ppp1r1c	protein phosphatase 1, regulatory (inhibitor) subunit 1C	gene	DOID:1909	melanoma		ISO	RGD:1351328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562095	Ppp1r1c	protein phosphatase 1, regulatory (inhibitor) subunit 1C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562095	Ppp1r1c	protein phosphatase 1, regulatory (inhibitor) subunit 1C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562095	Ppp1r1c	protein phosphatase 1, regulatory (inhibitor) subunit 1C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562095	Ppp1r1c	protein phosphatase 1, regulatory (inhibitor) subunit 1C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562095	Ppp1r1c	protein phosphatase 1, regulatory (inhibitor) subunit 1C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562095	Ppp1r1c	protein phosphatase 1, regulatory (inhibitor) subunit 1C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562099	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562099	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:1115	sarcoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562099	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:1324	lung cancer		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562099	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562099	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562099	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562099	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:5041	esophageal cancer		ISO	RGD:1626574	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562099	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562099	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562099	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562099	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562099	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562099	Nuggc	nuclear GTPase, germinal center associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1626574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0050439	Usher syndrome		ISO	RGD:1318161	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30976395|PMID:31736247|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0050439	Usher syndrome		ISO	RGD:1318161	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:31736247|PMID:32037395|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0050439	Usher syndrome		ISO	RGD:1318161	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31047384|PMID:31736247|PMID:32037395|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0050439	Usher syndrome		ISO	RGD:1318161	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31736247|PMID:31980526|PMID:32037395|PMID:32420686|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0050439	Usher syndrome		ISO	RGD:1318161	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Usher syndrome	PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:24498627|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:28951997|PMID:29099798|PMID:29266188|PMID:30029497|PMID:30303587|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31736247|PMID:31980526|PMID:32037395|PMID:32420686|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073|PMID:36909829|PMID:37798099
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0050439	Usher syndrome		ISO	RGD:1318161	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Usher syndrome	PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:24498627|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:28951997|PMID:29099798|PMID:29266188|PMID:30029497|PMID:30303587|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31736247|PMID:31980526|PMID:32037395|PMID:32420686|PMID:32467589|PMID:3258136|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073|PMID:36909829|PMID:37798099
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0050439	Usher syndrome		ISO	RGD:1318161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: USHER Syndrome | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome	PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:21569298|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24498627|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:28951997|PMID:29266188|PMID:30029497|PMID:30245029|PMID:30303587|PMID:30459346|PMID:30718709|PMID:31047384|PMID:32037395|PMID:32467589|PMID:33089500|PMID:33737949|PMID:33749171|PMID:35651951|PMID:35813073|PMID:36909829|PMID:38219857
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1318161	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:25741868|PMID:28492532|PMID:28951997|PMID:30303587
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:25741868
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0060058	lymphoma		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0110826	Usher syndrome type 1		ISO	RGD:1318161	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 1	PMID:21569298|PMID:24033266|PMID:26467025|PMID:28492532|PMID:30245029
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0110827	Usher syndrome type 2		ISO	RGD:1318161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Usher Syndrome, Type II | ClinVar Annotator: match by term: Usher syndrome type 2	PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:24498627|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28041643|PMID:28157192|PMID:28492532|PMID:29924869|PMID:30311386|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31980526|PMID:32037395|PMID:32355288|PMID:32467589|PMID:32483926|PMID:33090715|PMID:34906470|PMID:35813073|PMID:36553628|PMID:37422204|PMID:37734845|PMID:37798099
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0110839	Usher syndrome type 2C		ISO	RGD:1318161	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0110839	Usher syndrome type 2C		ISO	RGD:1318161	D	RGD:7240710	20130221	OMIM			
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0110839	Usher syndrome type 2C		ISO	RGD:1318161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADGRV1-related condition | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIC | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC | ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type 2C	PMID:14740321|PMID:15671307|PMID:16199547|PMID:17576681|PMID:19357116|PMID:19357117|PMID:21569298|PMID:21946352|PMID:22135276|PMID:22147658|PMID:22334370|PMID:23441107|PMID:23767834|PMID:23967202|PMID:24033266|PMID:24498627|PMID:24853665|PMID:25133751|PMID:25324289|PMID:25333064|PMID:25468891|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26346818|PMID:26432996|PMID:26467025|PMID:26667666|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27575413|PMID:27898983|PMID:28492532|PMID:28944237|PMID:28951997|PMID:29179779|PMID:29625443|PMID:29907799|PMID:30029497|PMID:30180840|PMID:30190612|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31046701|PMID:31047384|PMID:32037395|PMID:32146541|PMID:32467589|PMID:32747562|PMID:32962041|PMID:33247286|PMID:33724713|PMID:34148116|PMID:34906470|PMID:34997062|PMID:35802133|PMID:35813073|PMID:36633841|PMID:37734845|PMID:39963372|PMID:9536098
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0110839	Usher syndrome type 2C		ISS	RGD:1318162	D	RGD:13592920	20230718	MouseDO		OMIM:605472	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0111305	familial febrile seizures 4		ISO	RGD:1318161	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0111305	familial febrile seizures 4		ISO	RGD:1318161	D	RGD:7240710	20131030	OMIM			
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0111305	familial febrile seizures 4		ISO	RGD:1318161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADGRV1-related disorder | ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 4 | ClinVar Annotator: match by term: Febrile seizures, familial, 4	PMID:12402266|PMID:14740321|PMID:15671307|PMID:16199547|PMID:16273391|PMID:18414213|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24498627|PMID:24853665|PMID:25333064|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28492532|PMID:28944237|PMID:28951997|PMID:29625443|PMID:30029497|PMID:30190612|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31046701|PMID:31047384|PMID:31964843|PMID:32146541|PMID:32467589|PMID:32962041|PMID:33724713|PMID:35813073|PMID:36011376
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:0111307	familial febrile seizures 1		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Febrile seizures, familial, 1	PMID:25741868|PMID:28492532
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:10534	stomach cancer		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:25741868|PMID:26667666|PMID:28492532|PMID:30029497|PMID:30718709
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:1059	intellectual disability		ISO	RGD:1318161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:1115	sarcoma		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:11294	arteriovenous malformation		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arteriovenous malformation	PMID:25741868
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:11830	myopia		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:1324	lung cancer		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related condition | ClinVar Annotator: match by term: Lung cancer	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:1826	epilepsy		ISO	RGD:1318161	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24033266|PMID:25741868|PMID:28492532
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:1924	hypogonadism		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:2841	asthma		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:3070	high grade glioma		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:3275	thymoma		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:3633	beta-mannosidosis		ISO	RGD:1318161	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Beta-D-mannosidosis	PMID:28492532|PMID:30311386
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:4362	cervical cancer		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:24033266|PMID:25741868|PMID:28492532
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318161	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:543	dystonia		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:5679	retinal disease		ISO	RGD:1318161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:19357117|PMID:22135276|PMID:22147658|PMID:23767834|PMID:24033266|PMID:25741868|PMID:26226137|PMID:27460420|PMID:28492532|PMID:30718709|PMID:31047384|PMID:32467589|PMID:34148116
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:5723	optic atrophy		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532|PMID:30190612
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:630	genetic disease		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32483926|PMID:36399868|PMID:37217689
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1318161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:23462753|PMID:23804846|PMID:23934111|PMID:23967202|PMID:24033266|PMID:24154662|PMID:25412400|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28492532|PMID:29625443|PMID:29924869|PMID:30311386|PMID:30718709|PMID:31047384|PMID:3196484|PMID:31964843|PMID:32037395|PMID:32467589|PMID:32581362|PMID:33105617|PMID:3442652|PMID:3505517|PMID:35813073|PMID:36056583|PMID:37217689
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9001128	Usher Syndrome Type 2B		ISO	RGD:1318161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Usher syndrome, type 2B	PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:21569298|PMID:22135276|PMID:22147658|PMID:23767834|PMID:24033266|PMID:24498627|PMID:24853665|PMID:25333064|PMID:25468891|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28492532|PMID:28944237|PMID:28951997|PMID:29625443|PMID:30029497|PMID:30180840|PMID:30190612|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31046701|PMID:31047384|PMID:32146541|PMID:32467589|PMID:33724713
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9001722	Dysarthria		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9001981	Weight Loss		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:25741868
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318161	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318161	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26667666|PMID:27460420|PMID:28157192|PMID:28492532|PMID:30029497|PMID:30311386|PMID:30718709|PMID:32467589
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing impairment | ClinVar Annotator: match by term: hearing loss	PMID:19357117|PMID:22135276|PMID:22147658|PMID:25741868|PMID:26226137|PMID:27460420|PMID:28157192|PMID:28492532|PMID:28951997|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31047384|PMID:31964843|PMID:32467589|PMID:34519870|PMID:36056583
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318161	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25741868|PMID:26226137|PMID:27460420|PMID:28157192|PMID:28492532|PMID:28951997|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31047384|PMID:31964843|PMID:32467589|PMID:34519870|PMID:36056583
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9004866	Ataxia		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb ataxia	PMID:25741868
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9005501	Abnormal Cortical Gyration		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal cortical gyration	PMID:25741868
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318161	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9007097	Microcephaly with Simplified Gyral Pattern		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Simplified gyral pattern	PMID:25741868
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9007722	Myoclonus		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9008681	Deafness		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:25741868|PMID:28492532|PMID:28951997|PMID:30303587
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Idiopathic generalized epilepsy	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562101	Adgrv1	adhesion G protein-coupled receptor V1	gene	DOID:9849	Meniere's disease		ISO	RGD:1318161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:24033266|PMID:25741868|PMID:28492532
1562103	Rgs13	regulator of G-protein signaling 13	gene	DOID:1115	sarcoma		ISO	RGD:1604849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562103	Rgs13	regulator of G-protein signaling 13	gene	DOID:1324	lung cancer		ISO	RGD:1604849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562103	Rgs13	regulator of G-protein signaling 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1604849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562105	Arhgap25	Rho GTPase activating protein 25	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562105	Arhgap25	Rho GTPase activating protein 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562105	Arhgap25	Rho GTPase activating protein 25	gene	DOID:1115	sarcoma		ISO	RGD:1351716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562105	Arhgap25	Rho GTPase activating protein 25	gene	DOID:1324	lung cancer		ISO	RGD:1351716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562105	Arhgap25	Rho GTPase activating protein 25	gene	DOID:3275	thymoma		ISO	RGD:1351716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562105	Arhgap25	Rho GTPase activating protein 25	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562105	Arhgap25	Rho GTPase activating protein 25	gene	DOID:4362	cervical cancer		ISO	RGD:1351716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562105	Arhgap25	Rho GTPase activating protein 25	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562105	Arhgap25	Rho GTPase activating protein 25	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562105	Arhgap25	Rho GTPase activating protein 25	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562105	Arhgap25	Rho GTPase activating protein 25	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562105	Arhgap25	Rho GTPase activating protein 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562105	Arhgap25	Rho GTPase activating protein 25	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562112	Foxp3	forkhead box P3	gene	DOID:0050200	Korean hemorrhagic fever		IEP		D	RGD:2325989|PMID:17878294	20200908	RGD		mRNA:increased expression:lung	
1562112	Foxp3	forkhead box P3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562112	Foxp3	forkhead box P3	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1348507	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23962110
1562112	Foxp3	forkhead box P3	gene	DOID:0050523	adult T-cell leukemia/lymphoma	disease_progression	ISO	RGD:1348507	D	RGD:38456007|PMID:23797717	20200810	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:24258212|PMID:25741868|PMID:28492532|PMID:29340042|PMID:31855573
1562112	Foxp3	forkhead box P3	gene	DOID:0081267	graft-versus-host disease	treatment	IEP		D	RGD:38599140|PMID:22344929	20200909	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:0081463	recurrent respiratory papillomatosis	susceptibility	ISO	RGD:1348507	D	RGD:38549360|PMID:28298239	20200831	RGD		DNA:SNPs:promoter:rs5902434,rs2232365 (human)	
1562112	Foxp3	forkhead box P3	gene	DOID:0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		ISO	RGD:1348507	D	RGD:11554173	20190702	CTD		CTD Direct Evidence: marker/mechanism	PMID:27783946
1562112	Foxp3	forkhead box P3	gene	DOID:0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		ISO	RGD:1348507	D	RGD:1598959|PMID:11137992	20070108	RGD		DNA:mutations:multiple (human)	
1562112	Foxp3	forkhead box P3	gene	DOID:0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		ISO	RGD:1348507	D	RGD:7240710	20151209	OMIM			
1562112	Foxp3	forkhead box P3	gene	DOID:0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		ISO	RGD:1348507	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED | ClinVar Annotator: match by term: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | ClinVar Annotator: match by term: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome	PMID:11120765|PMID:11137992|PMID:11137993|PMID:11295725|PMID:11768393|PMID:15096376|PMID:16199547|PMID:16630773|PMID:16741580|PMID:16920951|PMID:16990602|PMID:17576681|PMID:17586580|PMID:17635943|PMID:18316354|PMID:18795917|PMID:18820676|PMID:18931102|PMID:18951619|PMID:20537998|PMID:20643476|PMID:20650610|PMID:20842625|PMID:21036387|PMID:21802372|PMID:22581967|PMID:22590469|PMID:23313429|PMID:24250806|PMID:24258212|PMID:24792626|PMID:24916357|PMID:24982679|PMID:25363768|PMID:25546394|PMID:25741868|PMID:25911531|PMID:26467025|PMID:26748374|PMID:26748735|PMID:27167055|PMID:28289675|PMID:28492532|PMID:28778586|PMID:28783662|PMID:28833278|PMID:28993341|PMID:29193502|PMID:29241729|PMID:29340042|PMID:29896738|PMID:30293990|PMID:30385752|PMID:30443250|PMID:30510991|PMID:30894704|PMID:31019026|PMID:31130284|PMID:31855573|PMID:32279225|PMID:32289814|PMID:32531870|PMID:33046911|PMID:33194927|PMID:33523441|PMID:33546062|PMID:33637067|PMID:3375136|PMID:33751536|PMID:33833438|PMID:34216291|PMID:35434975|PMID:35624357|PMID:36007526|PMID:36091011|PMID:36600150|PMID:37898571|PMID:39870583|PMID:9536098
1562112	Foxp3	forkhead box P3	gene	DOID:0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		ISS	RGD:1557838	D	RGD:13592920	20230718	MouseDO		OMIM:304790	
1562112	Foxp3	forkhead box P3	gene	DOID:106	pleural tuberculosis	disease_progression	ISO	RGD:1348507	D	RGD:36947878|PMID:21303360	20200805	RGD		associated with human immunodeficiency virus infectious disease;	
1562112	Foxp3	forkhead box P3	gene	DOID:10763	hypertension	treatment	IEP		D	RGD:38549366|PMID:24420551	20200831	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:1115	sarcoma		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562112	Foxp3	forkhead box P3	gene	DOID:11166	Human papillomavirus infectious disease	susceptibility	ISO	RGD:1348507	D	RGD:38501104|PMID:31177386	20200818	RGD		DNA:SNP::rs3761548(human)	
1562112	Foxp3	forkhead box P3	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1348507	D	RGD:40400714|PMID:23754510	20201103	RGD		mRNA,protein:increased expression:multiple (human)	
1562112	Foxp3	forkhead box P3	gene	DOID:11263	chlamydia	treatment	ISO	RGD:1348507	D	RGD:38455984|PMID:30832593	20200807	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1348507	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1562112	Foxp3	forkhead box P3	gene	DOID:1205	allergic disease		ISO	RGD:1348507	D	RGD:11554173	20200317	CTD		CTD Direct Evidence: marker/mechanism	PMID:27965764
1562112	Foxp3	forkhead box P3	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1348507	D	RGD:38501106|PMID:17158635	20200818	RGD		mRNA:increased expression:liver	
1562112	Foxp3	forkhead box P3	gene	DOID:12365	malaria		ISO	RGD:1348507	D	RGD:38455985|PMID:19338000	20200807	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:12365	malaria	disease_progression	ISO	RGD:1348507	D	RGD:38455992|PMID:16169501	20200807	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:1459	hypothyroidism	treatment	IEP		D	RGD:38549578|PMID:29896255	20200902	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:1883	hepatitis C		ISO	RGD:1348507	D	RGD:38456005|PMID:17414718	20200810	RGD		mRNA:increased expression:liver	
1562112	Foxp3	forkhead box P3	gene	DOID:1909	melanoma		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562112	Foxp3	forkhead box P3	gene	DOID:2043	hepatitis B		ISO	RGD:1348507	D	RGD:38548919|PMID:21086571	20200824	RGD		associated with hepatocellular carcinoma; protein:increased expression:liver	
1562112	Foxp3	forkhead box P3	gene	DOID:2394	ovarian cancer		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1562112	Foxp3	forkhead box P3	gene	DOID:2723	dermatitis		ISO	RGD:1557838	D	RGD:38549359|PMID:22466646	20200831	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:2799	bronchiolitis obliterans		IEP		D	RGD:4889978|PMID:19840961	20200908	RGD		mRNA:increased expression:lung	
1562112	Foxp3	forkhead box P3	gene	DOID:2841	asthma		ISO	RGD:1348507	D	RGD:11554173	20200317	CTD		CTD Direct Evidence: marker/mechanism	PMID:27965764|PMID:29317916
1562112	Foxp3	forkhead box P3	gene	DOID:2841	asthma	treatment	ISO	RGD:1557838	D	RGD:38548920|PMID:27633092	20200824	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:289	endometriosis	severity	ISO	RGD:1348507	D	RGD:38501099|PMID:22541024	20200818	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:2938	Epstein-Barr virus infectious disease	susceptibility	ISO	RGD:1348507	D	RGD:38548918|PMID:18246047	20200824	RGD		associated with adult T-cell leukemia;	
1562112	Foxp3	forkhead box P3	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1348507	D	RGD:38501101|PMID:29020928	20200818	RGD		DNA:polymorphism:promoter:-924A>G(human)	
1562112	Foxp3	forkhead box P3	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis		ISO	RGD:1348507	D	RGD:38549361|PMID:20945034	20200831	RGD		mRNA:decreased expression: T cell	
1562112	Foxp3	forkhead box P3	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis	disease_progression	ISO	RGD:1348507	D	RGD:38456004|PMID:28101786	20200810	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:3298	vaccinia		ISO	RGD:1557838	D	RGD:36947870|PMID:20548030	20200805	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:3744	cervical squamous cell carcinoma	severity	ISO	RGD:1348507	D	RGD:38455996|PMID:28086903	20200807	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:401	multidrug-resistant tuberculosis		ISO	RGD:1348507	D	RGD:38456003|PMID:25483347	20200810	RGD		mRNA:increased expression:peripheral blood:	
1562112	Foxp3	forkhead box P3	gene	DOID:4166	syphilis	treatment	ISO	RGD:1348507	D	RGD:38456006|PMID:27284313	20200810	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:4404	occupational dermatitis		ISO	RGD:1348507	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29477354
1562112	Foxp3	forkhead box P3	gene	DOID:4928	intrahepatic cholangiocarcinoma		IDA		D	RGD:38599002|PMID:24291052	20200908	RGD		DNA:hypomethylation:liver	
1562112	Foxp3	forkhead box P3	gene	DOID:630	genetic disease		ISO	RGD:1348507	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1562112	Foxp3	forkhead box P3	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:28492532
1562112	Foxp3	forkhead box P3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348507	D	RGD:38548919|PMID:21086571	20200824	RGD		protein:increased expression:liver	
1562112	Foxp3	forkhead box P3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1348507	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20476861
1562112	Foxp3	forkhead box P3	gene	DOID:8568	infectious mononucleosis	disease_progression	ISO	RGD:1348507	D	RGD:38501103|PMID:23628056	20200818	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:1557838	D	RGD:38501102|PMID:25398094	20200818	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9000039	Spinal Cord Injuries	treatment	IEP		D	RGD:38549580|PMID:30287503	20200902	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9000099	Experimental Colitis		ISO	RGD:1557838	D	RGD:14975101|PMID:27498708	20200831	RGD		mRNA:increased expression:mucosa:	
1562112	Foxp3	forkhead box P3	gene	DOID:9000099	Experimental Colitis		ISO	RGD:1557838	D	RGD:38455995|PMID:17229795	20200807	RGD		protein:increased expression:colon:	
1562112	Foxp3	forkhead box P3	gene	DOID:9000099	Experimental Colitis	treatment	IDA		D	RGD:38549362|PMID:28733028	20200831	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:1557838	D	RGD:38455994|PMID:26925602	20200807	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9000197	Edema		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	PMID:28492532
1562112	Foxp3	forkhead box P3	gene	DOID:9000238	Acute-On-Chronic Liver Failure		ISO	RGD:1348507	D	RGD:38549358|PMID:21489307	20200831	RGD		mRNA,protein:increased expression:peripheral blood mononuclear cell, liver:	
1562112	Foxp3	forkhead box P3	gene	DOID:9000310	Lung Injury		ISO	RGD:1348507	D	RGD:11554173	20200317	CTD		CTD Direct Evidence: marker/mechanism	PMID:28630656
1562112	Foxp3	forkhead box P3	gene	DOID:9002311	Experimental Autoimmune Myocarditis	severity	IEP		D	RGD:38549573|PMID:28892130	20200902	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	IEP		D	RGD:13702882|PMID:19907173	20200909	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9002457	Experimental Arthritis		IEP		D	RGD:38599003|PMID:23643080	20200908	RGD		mRNA,protein:decreased expression:lung	
1562112	Foxp3	forkhead box P3	gene	DOID:9002457	Experimental Arthritis	treatment	IEP		D	RGD:38549364|PMID:29264841	20200831	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9003040	Squamous Intraepithelial Lesions of the Cervix	severity	ISO	RGD:1348507	D	RGD:38501104|PMID:31177386	20200818	RGD		DNA:SNP::rs3761548(human)	
1562112	Foxp3	forkhead box P3	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1348507	D	RGD:38548921|PMID:18673437	20200824	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1348507	D	RGD:38456005|PMID:17414718	20200810	RGD		mRNA:increased expression:liver	
1562112	Foxp3	forkhead box P3	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1557838	D	RGD:38599144|PMID:21199671	20200909	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:1557838	D	RGD:38549577|PMID:28457422	20200902	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348507	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:11137993|PMID:18931102|PMID:23313429|PMID:24982679|PMID:25741868|PMID:25911531|PMID:26467025|PMID:27167055|PMID:28289675|PMID:28492532|PMID:29193502|PMID:30443250|PMID:32531870|PMID:33194927|PMID:33523441
1562112	Foxp3	forkhead box P3	gene	DOID:9004484	Sepsis	severity	ISO	RGD:1348507	D	RGD:38455982|PMID:25403265	20200806	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9004656	Airway Remodeling	treatment	ISO	RGD:1557838	D	RGD:38548920|PMID:27633092	20200824	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9005106	Animal Toxoplasmosis		ISO	RGD:1557838	D	RGD:38501105|PMID:21923716	20200818	RGD		mRNA:decreased expression:placenta:	
1562112	Foxp3	forkhead box P3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1348507	D	RGD:11554173	20211207	CTD		CTD Direct Evidence: marker/mechanism	PMID:34166680
1562112	Foxp3	forkhead box P3	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:38599142|PMID:18328191	20200909	RGD		mRNA,protein:increased expression: peripheral blood, spleen, lymphoid node	
1562112	Foxp3	forkhead box P3	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	IEP		D	RGD:38599143|PMID:32341701	20200909	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9005930	Endotoxemia		IEP		D	RGD:38455980|PMID:19998507	20200806	RGD		protein:increased expression:intestinal mucosa	
1562112	Foxp3	forkhead box P3	gene	DOID:9005968	Neuralgia		IEP		D	RGD:38599004|PMID:30858084	20200908	RGD		mRNA:increased expression: L4-L5 of the spinal cord	
1562112	Foxp3	forkhead box P3	gene	DOID:9005968	Neuralgia	treatment	ISO	RGD:1557838	D	RGD:38599004|PMID:30858084	20200908	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9006095	Ascites		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:28492532
1562112	Foxp3	forkhead box P3	gene	DOID:9006647	Experimental Autoimmune Neuritis		IEP		D	RGD:38549576|PMID:30464413	20200902	RGD		protein:decreased expression:sciatic nerve	
1562112	Foxp3	forkhead box P3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562112	Foxp3	forkhead box P3	gene	DOID:9007204	Dysbiosis	treatment	IEP		D	RGD:38549571|PMID:32227764	20200902	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1348507	D	RGD:38548921|PMID:18673437	20200824	RGD			
1562112	Foxp3	forkhead box P3	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1348507	D	RGD:38549358|PMID:21489307	20200831	RGD		mRNA,protein:increased expression:peripheral blood mononuclear cell, liver:	
1562112	Foxp3	forkhead box P3	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:28492532
1562112	Foxp3	forkhead box P3	gene	DOID:9008861	Wound Infection	severity	IEP		D	RGD:38599139|PMID:22141756	20200909	RGD		associated with Pseudomonas aeruginosa infection;mRNA:increased expression:wound fluid:	
1562112	Foxp3	forkhead box P3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1348507	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17570480
1562112	Foxp3	forkhead box P3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562112	Foxp3	forkhead box P3	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1348507	D	RGD:38455981|PMID:29205403	20200806	RGD		mRNA:increased expression:Peripheral blood mononuclear cell:	
1562112	Foxp3	forkhead box P3	gene	DOID:9169	Wiskott-Aldrich syndrome		ISS	RGD:1557838	D	RGD:13592920	20180518	MouseDO		OMIM:301000 | OMIM:614493	
1562112	Foxp3	forkhead box P3	gene	DOID:9256	colorectal cancer		ISO	RGD:1348507	D	RGD:38599002|PMID:24291052	20200908	RGD		DNA:hypomethylation:colorectum	
1562112	Foxp3	forkhead box P3	gene	DOID:9351	diabetes mellitus		ISO	RGD:1348507	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:11137993|PMID:23313429|PMID:25741868|PMID:28492532|PMID:29193502|PMID:33194927|PMID:33523441
1562112	Foxp3	forkhead box P3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1348507	D	RGD:8554872	20161206	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:25741868
1562112	Foxp3	forkhead box P3	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1348507	D	RGD:1598959|PMID:11137992	20090427	RGD		associated with Autoimmune Diseases;DNA:mutations: :multiple (human)	
1562113	Cidec	cell death-inducing DFFA-like effector c	gene	DOID:0050440	familial partial lipodystrophy		ISO	RGD:1354006	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1562113	Cidec	cell death-inducing DFFA-like effector c	gene	DOID:0070203	familial partial lipodystrophy type 5		ISO	RGD:1354006	D	RGD:7240710	20140911	OMIM			
1562113	Cidec	cell death-inducing DFFA-like effector c	gene	DOID:0070203	familial partial lipodystrophy type 5		ISO	RGD:1354006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CIDEC-related condition	PMID:25741868|PMID:28492532
1562113	Cidec	cell death-inducing DFFA-like effector c	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562113	Cidec	cell death-inducing DFFA-like effector c	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1354006	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
1562113	Cidec	cell death-inducing DFFA-like effector c	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562114	Fam174c	family with sequence similarity 174 member C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562114	Fam174c	family with sequence similarity 174 member C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346714	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562114	Fam174c	family with sequence similarity 174 member C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562115	Tafa5	TAFA chemokine like family member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1342880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562115	Tafa5	TAFA chemokine like family member 5	gene	DOID:1909	melanoma		ISO	RGD:1342880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562115	Tafa5	TAFA chemokine like family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562119	Primpol	primase and DNA directed polymerase	gene	DOID:9003490	Myopia 22, Autosomal Dominant		ISO	RGD:1605846	D	RGD:7240710	20190315	OMIM			
1562119	Primpol	primase and DNA directed polymerase	gene	DOID:9003490	Myopia 22, Autosomal Dominant		ISO	RGD:1605846	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia 22, autosomal dominant | ClinVar Annotator: match by term: PRIMPOL-related condition	PMID:25741868
1562123	Zfp462	zinc finger protein 462	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562123	Zfp462	zinc finger protein 462	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1562123	Zfp462	zinc finger protein 462	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1352850	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1562123	Zfp462	zinc finger protein 462	gene	DOID:1059	intellectual disability		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1562123	Zfp462	zinc finger protein 462	gene	DOID:1324	lung cancer		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562123	Zfp462	zinc finger protein 462	gene	DOID:14320	generalized anxiety disorder		ISS	RGD:1318312	D	RGD:13592920	20181004	MouseDO			
1562123	Zfp462	zinc finger protein 462	gene	DOID:1909	melanoma		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562123	Zfp462	zinc finger protein 462	gene	DOID:3275	thymoma		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562123	Zfp462	zinc finger protein 462	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562123	Zfp462	zinc finger protein 462	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1352850	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29059373
1562123	Zfp462	zinc finger protein 462	gene	DOID:5041	esophageal cancer		ISO	RGD:1352850	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562123	Zfp462	zinc finger protein 462	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1352850	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1562123	Zfp462	zinc finger protein 462	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562123	Zfp462	zinc finger protein 462	gene	DOID:630	genetic disease		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31616000|PMID:32543299
1562123	Zfp462	zinc finger protein 462	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Speech delay	
1562123	Zfp462	zinc finger protein 462	gene	DOID:9005848	WEISS-KRUSZKA SYNDROME		ISO	RGD:1352850	D	RGD:7240710	20191127	OMIM			
1562123	Zfp462	zinc finger protein 462	gene	DOID:9005848	WEISS-KRUSZKA SYNDROME		ISO	RGD:1352850	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Metopic ridging-ptosis-facial dysmorphism syndrome | ClinVar Annotator: match by term: WEISS-KRUSZKA SYNDROME | ClinVar Annotator: match by term: Weiss-Kruszka syndrome | ClinVar Annotator: match by term: ZNF462-related condition	PMID:25741868|PMID:28492532|PMID:31361404|PMID:32543299|PMID:39069253|PMID:39287049|PMID:39501256
1562123	Zfp462	zinc finger protein 462	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1352850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
1562123	Zfp462	zinc finger protein 462	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352850	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1352747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:0080600	COVID-19		ISO	RGD:1352747	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:10579	leukodystrophy		ISO	RGD:1352747	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:11102997|PMID:11336405|PMID:11748843|PMID:15800013|PMID:16415970|PMID:17542813|PMID:25741868|PMID:28492532|PMID:7717396|PMID:7825602
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:1352747	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16319717|PMID:17602313|PMID:22057157
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:1352747	D	RGD:7240710	20130221	OMIM			
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:1352747	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy	PMID:10190819|PMID:10227685|PMID:10480364|PMID:10551832|PMID:10737980|PMID:10815658|PMID:10980539|PMID:11102997|PMID:11220738|PMID:11248239|PMID:11310629|PMID:11330045|PMID:11336405|PMID:11438993|PMID:11739809|PMID:11748843|PMID:11798073|PMID:11810273|PMID:12175782|PMID:12530690|PMID:12624723|PMID:12913200|PMID:14586615|PMID:14713218|PMID:14767898|PMID:1481812|PMID:15032602|PMID:15284851|PMID:15388659|PMID:15564782|PMID:15643618|PMID:15800013|PMID:15811009|PMID:15812458|PMID:15878823|PMID:16018167|PMID:16023551|PMID:16087056|PMID:16199547|PMID:16401743|PMID:16415970|PMID:16672758|PMID:16949688|PMID:16996397|PMID:17029209|PMID:17202797|PMID:17285533|PMID:17504626|PMID:17542813|PMID:17576681|PMID:17990484|PMID:18306728|PMID:18973459|PMID:19129531|PMID:19892975|PMID:20008255|PMID:20195870|PMID:20301491|PMID:20455653|PMID:20626745|PMID:20661612|PMID:20800589|PMID:20849526|PMID:20859061|PMID:21068741|PMID:21300044|PMID:21476988|PMID:21478203|PMID:21488864|PMID:21586746|PMID:21700483|PMID:21889498|PMID:21907609|PMID:21966424|PMID:22198747|PMID:22280810|PMID:22366764|PMID:22479560|PMID:22483867|PMID:22914231|PMID:23154058|PMID:23300730|PMID:23419472|PMID:23430809|PMID:23566833|PMID:23566848|PMID:23664929|PMID:23671276|PMID:23712774|PMID:23768953|PMID:23835273|PMID:24154795|PMID:24480483|PMID:24685009|PMID:24719134|PMID:24722136|PMID:24788897|PMID:25118695|PMID:25275259|PMID:25741868|PMID:26227820|PMID:26260157|PMID:26388597|PMID:26454440|PMID:26467025|PMID:26523528|PMID:26607867|PMID:26609365|PMID:27067449|PMID:27489563|PMID:27766264|PMID:27934597|PMID:28089346|PMID:28456143|PMID:28492532|PMID:28503596|PMID:28708278|PMID:28953922|PMID:28991658|PMID:29284317|PMID:29443243|PMID:29557549|PMID:30069915|PMID:31074578|PMID:31104286|PMID:31227335|PMID:31316545|PMID:31777199|PMID:32003821|PMID:32207279|PMID:32954314|PMID:33920672|PMID:34008892|PMID:34946879|PMID:35196747|PMID:6728562|PMID:6795626|PMID:7202134|PMID:7561948|PMID:7581394|PMID:7668254|PMID:7677014|PMID:7717396|PMID:7811247|PMID:7825602|PMID:7849718|PMID:7849723|PMID:7860075|PMID:7894167|PMID:7904210|PMID:7998779|PMID:8040304|PMID:8048932|PMID:8353949|PMID:8441467|PMID:8535452|PMID:8566952|PMID:8621506|PMID:8651290|PMID:8773611|PMID:8888042|PMID:8892025|PMID:9051655|PMID:9088111|PMID:9195223|PMID:9212180|PMID:9242200|PMID:9425230|PMID:9452087|PMID:9536098|PMID:9553942|PMID:9556301|PMID:9894883
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:1352747	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ABCD1-related condition | ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY | ClinVar Annotator: match by term: ADRENOMYELONEUROPATHY | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked adrenoleukodystrophy | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy	PMID:1|PMID:10190819|PMID:10369742|PMID:10480364|PMID:10737980|PMID:10815658|PMID:10980309|PMID:11063720|PMID:11102997|PMID:11220738|PMID:11248239|PMID:11310629|PMID:11336405|PMID:11438993|PMID:11739809|PMID:11748843|PMID:11798073|PMID:11810273|PMID:11968085|PMID:12175782|PMID:12402273|PMID:12530690|PMID:12624723|PMID:12913200|PMID:14533738|PMID:14586615|PMID:14713218|PMID:14767898|PMID:1481812|PMID:15192815|PMID:15284851|PMID:15333254|PMID:15388659|PMID:15564782|PMID:15643618|PMID:15800013|PMID:15811009|PMID:15812458|PMID:16018167|PMID:16023551|PMID:16087056|PMID:16199547|PMID:16415970|PMID:16949688|PMID:16996397|PMID:17285533|PMID:17498713|PMID:17542813|PMID:17576681|PMID:18206987|PMID:18306728|PMID:19129531|PMID:19325113|PMID:19660195|PMID:19963315|PMID:20008255|PMID:20301491|PMID:20376793|PMID:20455653|PMID:20626745|PMID:20661612|PMID:20800589|PMID:21068741|PMID:21300044|PMID:21476988|PMID:21478203|PMID:21488864|PMID:21586746|PMID:21700483|PMID:21889498|PMID:21907609|PMID:21966424|PMID:21987553|PMID:22120190|PMID:22176151|PMID:22198747|PMID:22280810|PMID:22366764|PMID:22479560|PMID:23300730|PMID:23419472|PMID:23430809|PMID:23469258|PMID:23566848|PMID:23651979|PMID:23671276|PMID:23712774|PMID:23768953|PMID:23835273|PMID:23926373|PMID:24480483|PMID:24685009|PMID:24719134|PMID:24722136|PMID:24788897|PMID:25275259|PMID:25324868|PMID:25423669|PMID:25741868|PMID:25835712|PMID:25999754|PMID:26227820|PMID:26260157|PMID:26266984|PMID:26388597|PMID:26454440|PMID:26467025|PMID:27248780|PMID:27423567|PMID:27489563|PMID:27779215|PMID:28086082|PMID:28216041|PMID:28456143|PMID:28481932|PMID:28492532|PMID:28503596|PMID:28708278|PMID:29056270|PMID:29390592|PMID:29443243|PMID:30069915|PMID:30487145|PMID:30544401|PMID:30546814|PMID:30902905|PMID:31069529|PMID:31074578|PMID:31104286|PMID:31227335|PMID:31526374|PMID:31557422|PMID:31777199|PMID:32003821|PMID:32101828|PMID:32954314|PMID:33151932|PMID:33359056|PMID:33920672|PMID:34012265|PMID:34013890|PMID:34426522|PMID:34649108|PMID:34826210|PMID:34946879|PMID:34997422|PMID:35053399|PMID:35076462|PMID:35466195|PMID:36046390|PMID:37567036|PMID:37977233|PMID:39803877|PMID:39825153|PMID:40759493|PMID:40786219|PMID:41166774|PMID:6728562|PMID:6795626|PMID:7202134|PMID:7581394|PMID:7668254|PMID:7677014|PMID:7717396|PMID:7811247|PMID:7825602|PMID:7849723|PMID:7860075|PMID:7894167|PMID:7904210|PMID:7998779|PMID:8040304|PMID:8353949|PMID:8441467|PMID:8535450|PMID:8566952|PMID:8621506|PMID:8651290|PMID:8773611|PMID:8888042|PMID:8892025|PMID:9088111|PMID:9425230|PMID:9536098|PMID:9553942|PMID:9556301|PMID:9584268|PMID:9894883
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:10588	adrenoleukodystrophy		ISS	RGD:1557916	D	RGD:13592920	20230718	MouseDO		OMIM:300100	
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:10588	adrenoleukodystrophy	susceptibility	ISO	RGD:1352747	D	RGD:1598655|PMID:8048932	20061209	RGD			
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:630	genetic disease		ISO	RGD:1352747	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11438993|PMID:11748843|PMID:15811009|PMID:16949688|PMID:22479560|PMID:23430809|PMID:24920594|PMID:25741868|PMID:26454440|PMID:26467025|PMID:28492532|PMID:30487145|PMID:33151932|PMID:33920672|PMID:34426522
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental deterioration	
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1352747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	PMID:10369742|PMID:15800013|PMID:20661612|PMID:25741868|PMID:28481932|PMID:28492532
1562128	Abcd1	ATP binding cassette subfamily D member 1	gene	DOID:93	language disorder		ISO	RGD:1352747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868|PMID:28953922
1562129	Zfp398	zinc finger protein 398	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562129	Zfp398	zinc finger protein 398	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562135	Fam185a	family with sequence similarity 185, member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562135	Fam185a	family with sequence similarity 185, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562135	Fam185a	family with sequence similarity 185, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562135	Fam185a	family with sequence similarity 185, member A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562136	Macir	macrophage immunometabolism regulator	gene	DOID:0080600	COVID-19		ISO	RGD:1602449	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1562136	Macir	macrophage immunometabolism regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562136	Macir	macrophage immunometabolism regulator	gene	DOID:3068	glioblastoma		ISO	RGD:1602449	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1562136	Macir	macrophage immunometabolism regulator	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1602449	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1562136	Macir	macrophage immunometabolism regulator	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1602449	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1562136	Macir	macrophage immunometabolism regulator	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1602449	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1562136	Macir	macrophage immunometabolism regulator	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1602449	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1562136	Macir	macrophage immunometabolism regulator	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1602449	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1562136	Macir	macrophage immunometabolism regulator	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1602449	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1562136	Macir	macrophage immunometabolism regulator	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1602449	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1562136	Macir	macrophage immunometabolism regulator	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1602449	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1562136	Macir	macrophage immunometabolism regulator	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1602449	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
1562137	Lonrf2	LON peptidase N-terminal domain and ring finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562137	Lonrf2	LON peptidase N-terminal domain and ring finger 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562137	Lonrf2	LON peptidase N-terminal domain and ring finger 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562137	Lonrf2	LON peptidase N-terminal domain and ring finger 2	gene	DOID:1115	sarcoma		ISO	RGD:1604220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562137	Lonrf2	LON peptidase N-terminal domain and ring finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562137	Lonrf2	LON peptidase N-terminal domain and ring finger 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562149	Map3k9	mitogen-activated protein kinase kinase kinase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352186	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562149	Map3k9	mitogen-activated protein kinase kinase kinase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1352186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562149	Map3k9	mitogen-activated protein kinase kinase kinase 9	gene	DOID:1324	lung cancer		ISO	RGD:1352186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1562149	Map3k9	mitogen-activated protein kinase kinase kinase 9	gene	DOID:1909	melanoma		ISO	RGD:1352186	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22197930
1562149	Map3k9	mitogen-activated protein kinase kinase kinase 9	gene	DOID:1909	melanoma		ISO	RGD:1352186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562149	Map3k9	mitogen-activated protein kinase kinase kinase 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562149	Map3k9	mitogen-activated protein kinase kinase kinase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1352186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562149	Map3k9	mitogen-activated protein kinase kinase kinase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562149	Map3k9	mitogen-activated protein kinase kinase kinase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1352186	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562149	Map3k9	mitogen-activated protein kinase kinase kinase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562149	Map3k9	mitogen-activated protein kinase kinase kinase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562161	Bclaf3	BCLAF1 and THRAP3 family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562161	Bclaf3	BCLAF1 and THRAP3 family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1348660	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562161	Bclaf3	BCLAF1 and THRAP3 family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1348660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562161	Bclaf3	BCLAF1 and THRAP3 family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562161	Bclaf3	BCLAF1 and THRAP3 family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562161	Bclaf3	BCLAF1 and THRAP3 family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562161	Bclaf3	BCLAF1 and THRAP3 family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562168	Rbp7	retinol binding protein 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562168	Rbp7	retinol binding protein 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562168	Rbp7	retinol binding protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562172	Spry3	sprouty RTK signaling antagonist 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562172	Spry3	sprouty RTK signaling antagonist 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562172	Spry3	sprouty RTK signaling antagonist 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562172	Spry3	sprouty RTK signaling antagonist 3	gene	DOID:9005834	Ependymomas		ISO	RGD:1349769	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1562172	Spry3	sprouty RTK signaling antagonist 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562173	Zpr1	ZPR1 zinc finger	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562173	Zpr1	ZPR1 zinc finger	gene	DOID:10534	stomach cancer		ISO	RGD:1323503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562173	Zpr1	ZPR1 zinc finger	gene	DOID:1324	lung cancer		ISO	RGD:1323503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562173	Zpr1	ZPR1 zinc finger	gene	DOID:3275	thymoma		ISO	RGD:1323503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562173	Zpr1	ZPR1 zinc finger	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562173	Zpr1	ZPR1 zinc finger	gene	DOID:9005701	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES		ISO	RGD:1323503	D	RGD:7240710	20210623	OMIM			
1562173	Zpr1	ZPR1 zinc finger	gene	DOID:9005701	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES		ISO	RGD:1323503	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies	PMID:25741868
1562173	Zpr1	ZPR1 zinc finger	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562173	Zpr1	ZPR1 zinc finger	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562174	Fnip2	folliculin interacting protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562174	Fnip2	folliculin interacting protein 2	gene	DOID:1115	sarcoma		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562174	Fnip2	folliculin interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562174	Fnip2	folliculin interacting protein 2	gene	DOID:3275	thymoma		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562174	Fnip2	folliculin interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:2292121	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562174	Fnip2	folliculin interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562174	Fnip2	folliculin interacting protein 2	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:12121120	D	RGD:9068941	20250116	OMIA		Hypomyelination of the central nervous system	PMID:20973788|PMID:24272703|PMID:3577694|PMID:38003185|PMID:676669|PMID:731520|PMID:7315204
1562174	Fnip2	folliculin interacting protein 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1562174	Fnip2	folliculin interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562174	Fnip2	folliculin interacting protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:0051033	primary autosomal recessive microcephaly 22		ISO	RGD:1603696	D	RGD:7240710	20190315	OMIM			
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:0051033	primary autosomal recessive microcephaly 22		ISO	RGD:1603696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive | ClinVar Annotator: match by term: NCAPD3-related condition	PMID:25741868|PMID:28492532
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:10534	stomach cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:1059	intellectual disability		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:1115	sarcoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:1324	lung cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:1909	melanoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:3275	thymoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:4362	cervical cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562176	Ncapd3	non-SMC condensin II complex, subunit D3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562179	Defb42	defensin beta 42	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:150333719	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm	PMID:32748548
1562188	Cfc1	cryptic, EGF-CFC family member 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1557732	D	RGD:155226882|PMID:10574770	20220920	RGD			
1562188	Cfc1	cryptic, EGF-CFC family member 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:2289769	D	RGD:155226879|PMID:11062482	20220920	RGD		DNA:missense mutation:exon:334C>T (p.R112C)(human)	
1562188	Cfc1	cryptic, EGF-CFC family member 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:2289769	D	RGD:155226881|PMID:25423076	20221116	RGD		DNA:CNVs::2q21.1 (human)	
1562188	Cfc1	cryptic, EGF-CFC family member 1	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1557732	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1562188	Cfc1	cryptic, EGF-CFC family member 1	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISS	RGD:1557732	D	RGD:13592920	20210930	MouseDO			
1562188	Cfc1	cryptic, EGF-CFC family member 1	gene	DOID:0060856	right atrial isomerism		ISS	RGD:1557732	D	RGD:13592920	20180518	MouseDO		OMIM:208530	
1562188	Cfc1	cryptic, EGF-CFC family member 1	gene	DOID:6406	double outlet right ventricle		ISS	RGD:1557732	D	RGD:13592920	20180518	MouseDO		OMIM:217095	
1562188	Cfc1	cryptic, EGF-CFC family member 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:2289769	D	RGD:155226880|PMID:24479926	20220920	RGD		DNA:hypermethylation:promoter:	
1562189	Ccdc14	coiled-coil domain containing 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562189	Ccdc14	coiled-coil domain containing 14	gene	DOID:10534	stomach cancer		ISO	RGD:1348740	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562189	Ccdc14	coiled-coil domain containing 14	gene	DOID:1115	sarcoma		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562189	Ccdc14	coiled-coil domain containing 14	gene	DOID:2394	ovarian cancer		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1562189	Ccdc14	coiled-coil domain containing 14	gene	DOID:4362	cervical cancer		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562189	Ccdc14	coiled-coil domain containing 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562189	Ccdc14	coiled-coil domain containing 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1348740	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562189	Ccdc14	coiled-coil domain containing 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562189	Ccdc14	coiled-coil domain containing 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348740	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562189	Ccdc14	coiled-coil domain containing 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562189	Ccdc14	coiled-coil domain containing 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562189	Ccdc14	coiled-coil domain containing 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562189	Ccdc14	coiled-coil domain containing 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:0060243	stuttering		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: STAMMERING	PMID:25741868|PMID:28492532
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:0080559	congenital disorder of glycosylation Ig		ISO	RGD:1343936	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation	PMID:25741868|PMID:32979048
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:0110802	hereditary spastic paraplegia 50		ISO	RGD:1343936	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: AP-4 deficiency syndrome	PMID:25741868|PMID:28492532
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:0110803	hereditary spastic paraplegia 51		ISO	RGD:1343936	D	RGD:7240710	20140911	OMIM			
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:0110803	hereditary spastic paraplegia 51		ISO	RGD:1343936	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 4 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 51	PMID:25741868|PMID:28492532|PMID:32979048
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:1059	intellectual disability		ISO	RGD:1343936	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:1826	epilepsy		ISO	RGD:1343936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:1826	epilepsy		ISO	RGD:1343936	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1343936	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:18414213|PMID:25741868|PMID:26544806|PMID:28492532
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1343936	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:607	paraplegia		ISO	RGD:1343936	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:17576681|PMID:21620353|PMID:21937992|PMID:23472171|PMID:25741868|PMID:28492532|PMID:32979048|PMID:35499206|PMID:9536098
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:630	genetic disease		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:870	neuropathy		ISO	RGD:1343936	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9005717	Familial Persistent Stuttering 1		ISO	RGD:1343936	D	RGD:7240710	20190315	OMIM			
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9005717	Familial Persistent Stuttering 1		ISO	RGD:1343936	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AP4E1-related condition | ClinVar Annotator: match by term: Stuttering, familial persistent, 1	PMID:25741868|PMID:28492532
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:21620353|PMID:21937992|PMID:23472171|PMID:25741868|PMID:28492532|PMID:38374194
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1343936	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1562199	Ap4e1	adaptor related protein complex 4 subunit epsilon 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562200	Pnpla4	patatin like domain 4, phospholipase and triacylglycerol lipase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562200	Pnpla4	patatin like domain 4, phospholipase and triacylglycerol lipase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562200	Pnpla4	patatin like domain 4, phospholipase and triacylglycerol lipase	gene	DOID:10534	stomach cancer		ISO	RGD:1346226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562200	Pnpla4	patatin like domain 4, phospholipase and triacylglycerol lipase	gene	DOID:1115	sarcoma		ISO	RGD:1346226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562200	Pnpla4	patatin like domain 4, phospholipase and triacylglycerol lipase	gene	DOID:1324	lung cancer		ISO	RGD:1346226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562200	Pnpla4	patatin like domain 4, phospholipase and triacylglycerol lipase	gene	DOID:1909	melanoma		ISO	RGD:1346226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562200	Pnpla4	patatin like domain 4, phospholipase and triacylglycerol lipase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562200	Pnpla4	patatin like domain 4, phospholipase and triacylglycerol lipase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562206	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562206	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562206	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:1115	sarcoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562206	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:1909	melanoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562206	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:3070	high grade glioma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562206	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562206	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1602227	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562206	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562206	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:9009324	FISCHER-ZIRNSAK PROGEROID SYNDROME		ISO	RGD:1602227	D	RGD:7240710	20250423	OMIM			
1562206	Supt7l	SPT7 like, STAGA complex subunit gamma	gene	DOID:9009324	FISCHER-ZIRNSAK PROGEROID SYNDROME		ISO	RGD:1602227	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fischer-Zirnsak progeroid syndrome	
1562211	Usp51	ubiquitin specific peptidase 51	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562211	Usp51	ubiquitin specific peptidase 51	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562211	Usp51	ubiquitin specific peptidase 51	gene	DOID:9007661	Dwarfism		ISO	RGD:1603172	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1562212	Slc67a2	solute carrier family 67 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562212	Slc67a2	solute carrier family 67 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562212	Slc67a2	solute carrier family 67 member 2	gene	DOID:1909	melanoma		ISO	RGD:1606209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562212	Slc67a2	solute carrier family 67 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562212	Slc67a2	solute carrier family 67 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606209	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562212	Slc67a2	solute carrier family 67 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562212	Slc67a2	solute carrier family 67 member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562213	Ucn3	urocortin 3	gene	DOID:850	lung disease		ISO	RGD:1352070	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16855006
1562213	Ucn3	urocortin 3	gene	DOID:9005372	Inflammation		ISO	RGD:1352070	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16855006
1562214	Dcp1b	decapping mRNA 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562214	Dcp1b	decapping mRNA 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1348381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562214	Dcp1b	decapping mRNA 1B	gene	DOID:1909	melanoma		ISO	RGD:1348381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562214	Dcp1b	decapping mRNA 1B	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1348381	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1562214	Dcp1b	decapping mRNA 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562214	Dcp1b	decapping mRNA 1B	gene	DOID:6039	uveal melanoma		ISO	RGD:1348381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1562214	Dcp1b	decapping mRNA 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562214	Dcp1b	decapping mRNA 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562218	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562218	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562218	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562218	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562218	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605298	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562218	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562218	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1562218	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562218	Fsaf1	40S small subunit processome assembly factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562220	Rasgef1b	RasGEF domain family, member 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562220	Rasgef1b	RasGEF domain family, member 1B	gene	DOID:0080600	COVID-19		ISO	RGD:1348873	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1562220	Rasgef1b	RasGEF domain family, member 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1348873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562220	Rasgef1b	RasGEF domain family, member 1B	gene	DOID:1115	sarcoma		ISO	RGD:1348873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562220	Rasgef1b	RasGEF domain family, member 1B	gene	DOID:1909	melanoma		ISO	RGD:1348873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562220	Rasgef1b	RasGEF domain family, member 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1348873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562220	Rasgef1b	RasGEF domain family, member 1B	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1348873	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1562220	Rasgef1b	RasGEF domain family, member 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1562220	Rasgef1b	RasGEF domain family, member 1B	gene	DOID:9256	colorectal cancer		ISO	RGD:1348873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562221	Dcdc1-ps1	doublecortin domain containing 1, pseudogene 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562221	Dcdc1-ps1	doublecortin domain containing 1, pseudogene 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562221	Dcdc1-ps1	doublecortin domain containing 1, pseudogene 1	gene	DOID:1115	sarcoma		ISO	RGD:1351849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562221	Dcdc1-ps1	doublecortin domain containing 1, pseudogene 1	gene	DOID:1324	lung cancer		ISO	RGD:1351849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562221	Dcdc1-ps1	doublecortin domain containing 1, pseudogene 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562221	Dcdc1-ps1	doublecortin domain containing 1, pseudogene 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868|PMID:28492532|PMID:32266149
1562221	Dcdc1-ps1	doublecortin domain containing 1, pseudogene 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562221	Dcdc1-ps1	doublecortin domain containing 1, pseudogene 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562221	Dcdc1-ps1	doublecortin domain containing 1, pseudogene 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562221	Dcdc1-ps1	doublecortin domain containing 1, pseudogene 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562221	Dcdc1-ps1	doublecortin domain containing 1, pseudogene 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562221	Dcdc1-ps1	doublecortin domain containing 1, pseudogene 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562228	Coa4	cytochrome c oxidase assembly factor 4 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562229	Cimip6	ciliary microtubule inner protein 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562229	Cimip6	ciliary microtubule inner protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562230	Ctnna3	catenin alpha 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1562230	Ctnna3	catenin alpha 3	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1320341	D	RGD:629136806|PMID:35199045	20251217	RGD		DNA:SNP:intron:rs187017665	
1562230	Ctnna3	catenin alpha 3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1320341	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
1562230	Ctnna3	catenin alpha 3	gene	DOID:0080815	childhood-onset asthma	exacerbates	ISO	RGD:1320341	D	RGD:11074595|PMID:26073756	20251205	RGD		DNA:SNPs:intron:rs7915695, rs7923078, rs7923279,rs6480203	
1562230	Ctnna3	catenin alpha 3	gene	DOID:0080820	occupational asthma		ISO	RGD:1320341	D	RGD:629107244|PMID:19187332	20251204	RGD		DNA:SNPs:multiple:	
1562230	Ctnna3	catenin alpha 3	gene	DOID:0080820	occupational asthma	susceptibility	ISO	RGD:1320341	D	RGD:629107245|PMID:22977168	20251205	RGD		DNA:SNPs: :rs10762058, rs7088181	
1562230	Ctnna3	catenin alpha 3	gene	DOID:0110084	arrhythmogenic right ventricular dysplasia 13		ISO	RGD:1320341	D	RGD:7240710	20140911	OMIM			
1562230	Ctnna3	catenin alpha 3	gene	DOID:0110084	arrhythmogenic right ventricular dysplasia 13		ISO	RGD:1320341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13	PMID:16199547|PMID:17576681|PMID:22421363|PMID:23136403|PMID:23375656|PMID:25050139|PMID:25640679|PMID:25741868|PMID:27231342|PMID:27535533|PMID:28202948|PMID:28416588|PMID:28492532|PMID:29544605|PMID:30847666|PMID:30975432|PMID:32880476|PMID:33497884|PMID:33789662|PMID:37529955|PMID:9536098
1562230	Ctnna3	catenin alpha 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320341	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562230	Ctnna3	catenin alpha 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320341	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28492532
1562230	Ctnna3	catenin alpha 3	gene	DOID:1682	congenital heart disease		ISO	RGD:1320341	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:25741868|PMID:28492532|PMID:32880476
1562230	Ctnna3	catenin alpha 3	gene	DOID:2841	asthma		ISO	RGD:1320341	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:19187332
1562230	Ctnna3	catenin alpha 3	gene	DOID:2841	asthma	treatment	ISO	RGD:1320341	D	RGD:629107246|PMID:24407380	20251205	RGD		DNA:SNP: :rs1786929	
1562230	Ctnna3	catenin alpha 3	gene	DOID:2843	long QT syndrome		ISO	RGD:1320341	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:28416588|PMID:28492532
1562230	Ctnna3	catenin alpha 3	gene	DOID:303	substance-related disorder		ISO	RGD:1320341	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1562230	Ctnna3	catenin alpha 3	gene	DOID:3070	high grade glioma		ISO	RGD:1320341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562230	Ctnna3	catenin alpha 3	gene	DOID:4362	cervical cancer		ISO	RGD:1320341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562230	Ctnna3	catenin alpha 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562230	Ctnna3	catenin alpha 3	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1320341	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:28492532
1562230	Ctnna3	catenin alpha 3	gene	DOID:9007614	Paroxysmal Atrial Fibrillation		ISO	RGD:1320341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: paroxysmal atrial fibrillation	PMID:25741868
1562230	Ctnna3	catenin alpha 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0050581	brachydactyly		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1348587	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28492532|PMID:9536098
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1348587	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:16783569|PMID:18546297|PMID:23033313|PMID:25741868|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28492532|PMID:29193896|PMID:31373179
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1348587	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:11179005|PMID:11349230|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25674159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28125082|PMID:28289185|PMID:28371265|PMID:28492532|PMID:28831199|PMID:29193896|PMID:29843741|PMID:30401917|PMID:31373179|PMID:33532864|PMID:33825116|PMID:34440443|PMID:34768622|PMID:35112477|PMID:35140360|PMID:35728977|PMID:36704348|PMID:9536098
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:10892847|PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:20301367|PMID:22619378|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28371265|PMID:28492532|PMID:28831199|PMID:29193896|PMID:29843741|PMID:30581852|PMID:31366608|PMID:31373179|PMID:31879361|PMID:33825116|PMID:34440443|PMID:35112477|PMID:37734845|PMID:9536098
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1348587	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:20301367|PMID:22619378|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28371265|PMID:28492532|PMID:28831199|PMID:29193896|PMID:29843741|PMID:30581852|PMID:31366608|PMID:31373179|PMID:31879361|PMID:33825116|PMID:34440443|PMID:35112477|PMID:37734845|PMID:9536098
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0060058	lymphoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0060248	Simpson-Golabi-Behmel syndrome type 1		ISO	RGD:1348587	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome	PMID:12595504|PMID:18546297|PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0060316	orofaciodigital syndrome I		ISO	RGD:1348587	D	RGD:11535957|PMID:23033313	20160923	RGD		DNA:mutations:exon, intron:multiple	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0060316	orofaciodigital syndrome I		ISO	RGD:1348587	D	RGD:11535958|PMID:11950863	20160923	RGD		DNA:frameshift mutations, missense mutation, splice-site mutation:multiple	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0060316	orofaciodigital syndrome I		ISO	RGD:1348587	D	RGD:11535960|PMID:21729220	20160923	RGD		DNA:deletion:exon:c.2183delG (human)	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0060316	orofaciodigital syndrome I		ISO	RGD:1348587	D	RGD:11535966|PMID:16397067	20160926	RGD		DNA:frameshift mutations, missense mutation, nonsense mutation:multiple	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0060316	orofaciodigital syndrome I		ISO	RGD:1348587	D	RGD:11535968|PMID:18177199	20160926	RGD		DNA:missense mutation:exon:243C>G (H81Q) (human)	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0060316	orofaciodigital syndrome I		ISO	RGD:1348587	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0060316	orofaciodigital syndrome I		ISO	RGD:1348587	D	RGD:7240710	20130425	OMIM			
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0060316	orofaciodigital syndrome I		ISO	RGD:1348587	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: OFDS I | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME I | ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Orofaciodigital syndrome I	PMID:11179005|PMID:12595504|PMID:16199547|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:20301367|PMID:21063442|PMID:22619378|PMID:23033313|PMID:25741868|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28289185|PMID:28492532|PMID:29193896|PMID:30286810|PMID:31366608|PMID:31373179|PMID:31879361|PMID:35112477|PMID:9536098
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0060316	orofaciodigital syndrome I		ISS	RGD:1558019	D	RGD:13592920	20230718	MouseDO		OMIM:311200	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0060340	ciliopathy		ISO	RGD:1348587	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ciliopathy	PMID:25741868|PMID:28492532
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0080342	Simpson-Golabi-Behmel syndrome type 2		ISO	RGD:1348587	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0080342	Simpson-Golabi-Behmel syndrome type 2		ISO	RGD:1348587	D	RGD:7240710	20130221	OMIM			
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0080342	Simpson-Golabi-Behmel syndrome type 2		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 2	PMID:11179005|PMID:11385707|PMID:12595504|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33847015|PMID:35192041|PMID:9536098
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0080918	polymicrogyria		ISO	RGD:1348587	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:1348587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 40	PMID:11179005|PMID:11950863|PMID:18546297
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0110412	retinitis pigmentosa 23		ISO	RGD:1348587	D	RGD:7240710	20170726	OMIM			
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0110412	retinitis pigmentosa 23		ISO	RGD:1348587	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa 23 | ClinVar Annotator: match by term: Retinitis pigmentosa 23	PMID:17576681|PMID:22619378|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1348587	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:16783569|PMID:18546297|PMID:25741868|PMID:27081566|PMID:28492532
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348587	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26092869|PMID:26467025|PMID:27081566|PMID:28289185|PMID:28492532|PMID:9536098
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348587	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:11179005|PMID:11349230|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25674159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28289185|PMID:28371265|PMID:28492532|PMID:30401917|PMID:35112477|PMID:9536098
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348587	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:11179005|PMID:11349230|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25674159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28125082|PMID:28289185|PMID:28371265|PMID:28492532|PMID:28831199|PMID:29193896|PMID:29843741|PMID:30401917|PMID:31373179|PMID:33532864|PMID:33825116|PMID:34440443|PMID:34768622|PMID:35112477|PMID:35140360|PMID:35728977|PMID:36704348|PMID:9536098
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348587	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:25741868|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28492532|PMID:9536098
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0110981	Joubert syndrome 10		ISO	RGD:1348587	D	RGD:11535963|PMID:19800048	20160923	RGD		DNA:deletions:exon:c.2841_2847del, c.2767del (human)	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0110981	Joubert syndrome 10		ISO	RGD:1348587	D	RGD:11535965|PMID:16783569	20160923	RGD		DNA:duplication:exon:2122-2125dup (human)	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0110981	Joubert syndrome 10		ISO	RGD:1348587	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0110981	Joubert syndrome 10		ISO	RGD:1348587	D	RGD:7240710	20130221	OMIM			
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0110981	Joubert syndrome 10		ISO	RGD:1348587	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 10 | ClinVar Annotator: match by term: Joubert syndrome 10	PMID:16783569|PMID:17576681|PMID:18546297|PMID:25741868|PMID:26092869|PMID:26275793|PMID:26467025|PMID:27081566|PMID:28492532|PMID:28973083|PMID:35728977|PMID:9536098
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0111589	COACH syndrome		ISO	RGD:1348587	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: COACH syndrome	PMID:16783569|PMID:18546297|PMID:23033313|PMID:25741868|PMID:27081566|PMID:28492532|PMID:29193896|PMID:31373179
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:0111783	otopalatodigital syndrome type 1		ISO	RGD:1348587	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16783569
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:10534	stomach cancer		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1348587	D	RGD:11535961|PMID:22619378	20160923	RGD		DNA, mRNA:frameshift mutation, splice variant:IVS9+706A>G (human)	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:1059	intellectual disability		ISO	RGD:1348587	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:1074	kidney failure		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney failure | ClinVar Annotator: match by term: Renal insufficiency	PMID:16783569|PMID:18546297|PMID:20301367|PMID:25741868|PMID:27081566|PMID:28492532
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:10908	hydrocephalus		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:1115	sarcoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:11193	syndactyly		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:11476	osteoporosis		ISO	RGD:1348587	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:28289185
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:1324	lung cancer		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:4362	cervical cancer		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:4501	orofaciodigital syndrome		ISO	RGD:1348587	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Orofaciodigital syndrome	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1348587	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:5119	ovarian cyst		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cyst	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:576	proteinuria		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:16783569|PMID:18546297|PMID:20301367|PMID:25741868|PMID:27081566|PMID:28492532
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:630	genetic disease		ISO	RGD:1348587	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:674	cleft palate		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:784	chronic kidney disease		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:16783569|PMID:18546297|PMID:20301367|PMID:25741868|PMID:27081566|PMID:28492532
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:8466	retinal degeneration		IEP		D	RGD:11535964|PMID:27196396	20160923	RGD		mRNA, protein:decreased expression:retina	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:8501	fundus dystrophy		ISO	RGD:1348587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1348587	D	RGD:8554872	20210518	ClinVar		ClinVar Annotator: match by term: Peripheral precocious puberty	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:9007917	Supernumerary Tooth		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teeth, supernumerary	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:9296	cleft lip		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868
1562231	Ofd1	Ofd1 centriole and centriolar satellite protein	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1348587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:11179005|PMID:12595504|PMID:16783569|PMID:18414213|PMID:18546297|PMID:25741868|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28492532|PMID:31366608|PMID:31373179|PMID:31879361|PMID:35112477|PMID:35140360
1562232	Mfap1a	microfibrillar-associated protein 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562232	Mfap1a	microfibrillar-associated protein 1A	gene	DOID:1115	sarcoma		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562232	Mfap1a	microfibrillar-associated protein 1A	gene	DOID:3070	high grade glioma		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562232	Mfap1a	microfibrillar-associated protein 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562232	Mfap1a	microfibrillar-associated protein 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562232	Mfap1a	microfibrillar-associated protein 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562236	Lratd2	LRAT domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1606136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562243	Fbxl2	F-box and leucine-rich repeat protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562243	Fbxl2	F-box and leucine-rich repeat protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562243	Fbxl2	F-box and leucine-rich repeat protein 2	gene	DOID:1115	sarcoma		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562243	Fbxl2	F-box and leucine-rich repeat protein 2	gene	DOID:1909	melanoma		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562243	Fbxl2	F-box and leucine-rich repeat protein 2	gene	DOID:3275	thymoma		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562243	Fbxl2	F-box and leucine-rich repeat protein 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562243	Fbxl2	F-box and leucine-rich repeat protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562243	Fbxl2	F-box and leucine-rich repeat protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562243	Fbxl2	F-box and leucine-rich repeat protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562243	Fbxl2	F-box and leucine-rich repeat protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1349123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1349123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1349123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349123	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1349123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:9004657	Weight Gain		ISO	RGD:1349123	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562244	Sestd1	SEC14 and spectrin domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562245	Trex2	three prime repair exonuclease 2	gene	DOID:1059	intellectual disability		ISO	RGD:1354135	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1562245	Trex2	three prime repair exonuclease 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562245	Trex2	three prime repair exonuclease 2	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:5490977|PMID:20973890	20110921	RGD			
1562245	Trex2	three prime repair exonuclease 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562246	Gins1	GINS complex subunit 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1562246	Gins1	GINS complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562246	Gins1	GINS complex subunit 1	gene	DOID:0111993	immunodeficiency 55		ISO	RGD:1605108	D	RGD:7240710	20190315	OMIM			
1562246	Gins1	GINS complex subunit 1	gene	DOID:0111993	immunodeficiency 55		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency due to GINS1 deficiency | ClinVar Annotator: match by term: GINS1-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 55	PMID:25741868|PMID:28414293|PMID:28492532
1562246	Gins1	GINS complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562246	Gins1	GINS complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562246	Gins1	GINS complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562246	Gins1	GINS complex subunit 1	gene	DOID:12176	goiter		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:28492532
1562246	Gins1	GINS complex subunit 1	gene	DOID:1596	depressive disorder		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1562246	Gins1	GINS complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562246	Gins1	GINS complex subunit 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1562246	Gins1	GINS complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562246	Gins1	GINS complex subunit 1	gene	DOID:2841	asthma		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1562246	Gins1	GINS complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562246	Gins1	GINS complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562246	Gins1	GINS complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605108	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1562246	Gins1	GINS complex subunit 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1562246	Gins1	GINS complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562246	Gins1	GINS complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562249	Zbtb8os	zinc finger and BTB domain containing 8 opposite strand	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603245	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562249	Zbtb8os	zinc finger and BTB domain containing 8 opposite strand	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1558119	D	RGD:11554173	20260804	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1562249	Zbtb8os	zinc finger and BTB domain containing 8 opposite strand	gene	DOID:4362	cervical cancer		ISO	RGD:1603245	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562249	Zbtb8os	zinc finger and BTB domain containing 8 opposite strand	gene	DOID:5041	esophageal cancer		ISO	RGD:1603245	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562249	Zbtb8os	zinc finger and BTB domain containing 8 opposite strand	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562249	Zbtb8os	zinc finger and BTB domain containing 8 opposite strand	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562249	Zbtb8os	zinc finger and BTB domain containing 8 opposite strand	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562249	Zbtb8os	zinc finger and BTB domain containing 8 opposite strand	gene	DOID:9256	colorectal cancer		ISO	RGD:1603245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562251	Ccdc69	coiled-coil domain containing 69	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562251	Ccdc69	coiled-coil domain containing 69	gene	DOID:1909	melanoma		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562251	Ccdc69	coiled-coil domain containing 69	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562251	Ccdc69	coiled-coil domain containing 69	gene	DOID:4362	cervical cancer		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562251	Ccdc69	coiled-coil domain containing 69	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562251	Ccdc69	coiled-coil domain containing 69	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562251	Ccdc69	coiled-coil domain containing 69	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562251	Ccdc69	coiled-coil domain containing 69	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562252	Fdxacb1	ferredoxin-fold anticodon binding domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2301592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562252	Fdxacb1	ferredoxin-fold anticodon binding domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2301592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562252	Fdxacb1	ferredoxin-fold anticodon binding domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:2301592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562252	Fdxacb1	ferredoxin-fold anticodon binding domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:2301592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562252	Fdxacb1	ferredoxin-fold anticodon binding domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2301592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562253	Wnt16	Wnt family member 16	gene	DOID:4362	cervical cancer		ISO	RGD:1345805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562253	Wnt16	Wnt family member 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562253	Wnt16	Wnt family member 16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:0110617	primary ciliary dyskinesia 5		ISO	RGD:1347981	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:0110617	primary ciliary dyskinesia 5		ISO	RGD:1347981	D	RGD:7240710	20130731	OMIM			
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:0110617	primary ciliary dyskinesia 5		ISO	RGD:1347981	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 5, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: HYDIN-related disorder | ClinVar Annotator: match by term: Primary ciliary dyskinesia 5	PMID:25741868|PMID:29363216|PMID:31469207|PMID:31879361|PMID:36112114|PMID:36742411|PMID:39805680
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:10534	stomach cancer		ISO	RGD:1347981	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:10908	hydrocephalus		ISO	RGD:1347981	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12719380|PMID:19029900
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:10908	hydrocephalus		ISO	RGD:1558533	D	RGD:634487|PMID:12719380	19990101	RGD		DNA:nonsense mutation:exon (mouse)	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:10908	hydrocephalus		ISS	RGD:1558533	D	RGD:13592920	20230718	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:1115	sarcoma		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:11162	respiratory failure		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:1909	melanoma		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:2841	asthma		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:3310	atopic dermatitis		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:4362	cervical cancer		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:630	genetic disease		ISO	RGD:1347981	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:9002720	Splenomegaly		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562254	Hydin	Hydin, axonemal central pair apparatus protein	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1347981	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:25741868
1562262	Cep250	centrosomal protein 250	gene	DOID:0050439	Usher syndrome		ISO	RGD:1347521	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Usher syndrome	PMID:24780881|PMID:25741868|PMID:28492532|PMID:29718797|PMID:31456290
1562262	Cep250	centrosomal protein 250	gene	DOID:10584	retinitis pigmentosa		ISS	RGD:1618420	D	RGD:13592920	20190912	MouseDO			
1562262	Cep250	centrosomal protein 250	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562262	Cep250	centrosomal protein 250	gene	DOID:1115	sarcoma		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562262	Cep250	centrosomal protein 250	gene	DOID:1324	lung cancer		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562262	Cep250	centrosomal protein 250	gene	DOID:1909	melanoma		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562262	Cep250	centrosomal protein 250	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562262	Cep250	centrosomal protein 250	gene	DOID:3070	high grade glioma		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562262	Cep250	centrosomal protein 250	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562262	Cep250	centrosomal protein 250	gene	DOID:4362	cervical cancer		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562262	Cep250	centrosomal protein 250	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562262	Cep250	centrosomal protein 250	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562262	Cep250	centrosomal protein 250	gene	DOID:5041	esophageal cancer		ISO	RGD:1347521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562262	Cep250	centrosomal protein 250	gene	DOID:5723	optic atrophy		ISO	RGD:1347521	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1562262	Cep250	centrosomal protein 250	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562262	Cep250	centrosomal protein 250	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562262	Cep250	centrosomal protein 250	gene	DOID:8501	fundus dystrophy		ISO	RGD:1347521	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:24780881|PMID:25741868|PMID:28492532|PMID:29718797
1562262	Cep250	centrosomal protein 250	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1562262	Cep250	centrosomal protein 250	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562262	Cep250	centrosomal protein 250	gene	DOID:9008509	Cone-Rod Dystrophy and Hearing Loss 2		ISO	RGD:1347521	D	RGD:7240710	20190424	OMIM			
1562262	Cep250	centrosomal protein 250	gene	DOID:9008509	Cone-Rod Dystrophy and Hearing Loss 2		ISO	RGD:1347521	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CEP250-related condition | ClinVar Annotator: match by term: CONE-ROD DYSTROPHY AND HEARING LOSS 2 | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 | ClinVar Annotator: match by term: cone-rod dystrophy and hearing loss 2	PMID:16199547|PMID:24780881|PMID:25741868|PMID:28492532|PMID:29718797|PMID:30459346|PMID:30998843|PMID:31456290
1562262	Cep250	centrosomal protein 250	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:0060180	colitis		ISO	RGD:1557544	D	RGD:5508755|PMID:20921147	20111020	RGD			
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:10457	Legionnaires' disease		ISO	RGD:1557544	D	RGD:5131443|PMID:20685341	20110427	RGD			
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:2841	asthma		ISO	RGD:1344653	D	RGD:5131518|PMID:15718249	20110502	RGD		DNA:insertion:cds:	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:2841	asthma		ISO	RGD:1344653	D	RGD:632518350|PMID:29857009	20260205	RGD		associated with obesity;mRNA:increased expression:sputum	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:2841	asthma		ISO	RGD:1344653	D	RGD:632518351|PMID:15990792	20260205	RGD		DNA:SNPs: :multiple	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:2841	asthma		ISO	RGD:1344653	D	RGD:632518354|PMID:19968634	20260205	RGD		DNA:SNP: :rs2907749	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1344653	D	RGD:5131519|PMID:16918516	20110502	RGD		DNA:SNP: :rs2075817 (human)	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1344653	D	RGD:632518349|PMID:30874883	20260205	RGD		DNA:SNP:exon: p.E266K (rs2075820)	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1344653	D	RGD:632518353|PMID:28536249	20260205	RGD		protein:increased expression:epithelium of bronchus, lamina propria of bronchus	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:3310	atopic dermatitis	susceptibility	ISO	RGD:1344653	D	RGD:632518351|PMID:15990792	20260205	RGD		DNA:SNPs, haplotypes: :multiple	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:1344653	D	RGD:8547523|PMID:23858718	20260205	RGD		mRNA, protein:increased expression:nasal cavity mucosa	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:4483	rhinitis		ISO	RGD:1344653	D	RGD:5131446|PMID:20384614	20110427	RGD		mRNA:decreased expression:nose	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344653	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:863	nervous system disease		ISO	RGD:1344653	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11158245
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:874	bacterial pneumonia		ISO	RGD:1557544	D	RGD:5131449|PMID:19360122	20110427	RGD			
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:1557544	D	RGD:9831166|PMID:23028889	20150227	RGD			
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:9008103	Seasonal Allergic Rhinitis	susceptibility	ISO	RGD:1344653	D	RGD:5131519|PMID:16918516	20110502	RGD		DNA:SNP: :rs2075817 (human)	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562269	Nod1	nucleotide-binding oligomerization domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1344653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562278	Gsg1l	GSG1-like	gene	DOID:1909	melanoma		ISO	RGD:1604995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562279	Astl	astacin like metalloendopeptidase	gene	DOID:1909	melanoma		ISO	RGD:1349169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562279	Astl	astacin like metalloendopeptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562279	Astl	astacin like metalloendopeptidase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562279	Astl	astacin like metalloendopeptidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562279	Astl	astacin like metalloendopeptidase	gene	DOID:9004838	Oocyte/Zygote/Embryo Maturation Arrest 11		ISO	RGD:1349169	D	RGD:7240710	20211222	OMIM			
1562279	Astl	astacin like metalloendopeptidase	gene	DOID:9004838	Oocyte/Zygote/Embryo Maturation Arrest 11		ISO	RGD:1349169	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oocyte maturation defect 11	
1562279	Astl	astacin like metalloendopeptidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562283	C1h10orf120	similar to human chromosome 10 open reading frame 120	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:1324	lung cancer		ISO	RGD:735639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:1909	melanoma		ISO	RGD:735639	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17145863
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:1909	melanoma		ISO	RGD:735639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:735639	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:3275	thymoma		ISO	RGD:735639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:6039	uveal melanoma		ISO	RGD:735639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:813	septic arthritis		ISO	RGD:735640	D	RGD:41410433|PMID:23204180	20210210	RGD			
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:735639	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770605
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562284	Qpct	glutaminyl-peptide cyclotransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562291	Foxn2	forkhead box N2	gene	DOID:0080600	COVID-19		ISO	RGD:1343664	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1562291	Foxn2	forkhead box N2	gene	DOID:1324	lung cancer		ISO	RGD:1343664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562291	Foxn2	forkhead box N2	gene	DOID:3070	high grade glioma		ISO	RGD:1343664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562291	Foxn2	forkhead box N2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343664	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562291	Foxn2	forkhead box N2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562291	Foxn2	forkhead box N2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1562291	Foxn2	forkhead box N2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562291	Foxn2	forkhead box N2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562292	Hoxb5	homeo box B5	gene	DOID:9970	obesity		ISO	RGD:1342680	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22484627
1562294	Zfp202	zinc finger protein 202	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562294	Zfp202	zinc finger protein 202	gene	DOID:1115	sarcoma		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562294	Zfp202	zinc finger protein 202	gene	DOID:1324	lung cancer		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562294	Zfp202	zinc finger protein 202	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562294	Zfp202	zinc finger protein 202	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562305	Sbsn	suprabasin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562305	Sbsn	suprabasin	gene	DOID:1115	sarcoma		ISO	RGD:1602809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562305	Sbsn	suprabasin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562305	Sbsn	suprabasin	gene	DOID:5041	esophageal cancer		ISO	RGD:1602809	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562305	Sbsn	suprabasin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562307	Spsb4	splA/ryanodine receptor domain and SOCS box containing 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562307	Spsb4	splA/ryanodine receptor domain and SOCS box containing 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603370	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1562307	Spsb4	splA/ryanodine receptor domain and SOCS box containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562310	Spring1	SREBF pathway regulator in golgi 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562310	Spring1	SREBF pathway regulator in golgi 1	gene	DOID:1115	sarcoma		ISO	RGD:1602859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562310	Spring1	SREBF pathway regulator in golgi 1	gene	DOID:1324	lung cancer		ISO	RGD:1602859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1562310	Spring1	SREBF pathway regulator in golgi 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562310	Spring1	SREBF pathway regulator in golgi 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562310	Spring1	SREBF pathway regulator in golgi 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562313	Tcp11l1	t-complex 11 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562313	Tcp11l1	t-complex 11 like 1	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1602322	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Exstrophy-epispadias complex	PMID:25741868
1562313	Tcp11l1	t-complex 11 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562313	Tcp11l1	t-complex 11 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1602322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562313	Tcp11l1	t-complex 11 like 1	gene	DOID:3275	thymoma		ISO	RGD:1602322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562313	Tcp11l1	t-complex 11 like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562313	Tcp11l1	t-complex 11 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562317	Mfsd6	major facilitator superfamily domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562321	Gzf1	GDNF-inducible zinc finger protein 1	gene	DOID:0070748	joint laxity, short stature, and myopia		ISO	RGD:1318777	D	RGD:7240710	20190315	OMIM			
1562321	Gzf1	GDNF-inducible zinc finger protein 1	gene	DOID:0070748	joint laxity, short stature, and myopia		ISO	RGD:1318777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GZF1-related condition | ClinVar Annotator: match by term: JOINT LAXITY, SHORT STATURE, AND MYOPIA | ClinVar Annotator: match by term: Joint laxity, short stature, and myopia	PMID:25741868|PMID:28475863|PMID:28492532
1562321	Gzf1	GDNF-inducible zinc finger protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562321	Gzf1	GDNF-inducible zinc finger protein 1	gene	DOID:14764	Larsen syndrome		ISO	RGD:1318777	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Larsen syndrome	PMID:25741868
1562321	Gzf1	GDNF-inducible zinc finger protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318777	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562321	Gzf1	GDNF-inducible zinc finger protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562321	Gzf1	GDNF-inducible zinc finger protein 1	gene	DOID:630	genetic disease		ISO	RGD:1318777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:10488	imperforate anus		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:24599544|PMID:26989884
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:10907	microcephaly		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:1115	sarcoma		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1347280	D	RGD:155882462|PMID:19006206	20230123	RGD		DNA:splice-site mutation:cds:IVS26+5G>A (human)	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:1324	lung cancer		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:14694	Johanson-Blizzard syndrome		ISO	RGD:1347280	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:14694	Johanson-Blizzard syndrome		ISO	RGD:1347280	D	RGD:155882462|PMID:19006206	20230123	RGD		DNA:splice-site mutation:cds:IVS26+5G>A (human)	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:14694	Johanson-Blizzard syndrome		ISO	RGD:1347280	D	RGD:155882463|PMID:21711208	20230123	RGD		DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:14694	Johanson-Blizzard syndrome		ISO	RGD:1347280	D	RGD:7240710	20130221	OMIM			
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:14694	Johanson-Blizzard syndrome		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: JOHANSON-BLIZZARD SYNDROME | ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness | ClinVar Annotator: match by term: UBR1-related condition	PMID:16311597|PMID:18553553|PMID:19006206|PMID:19058315|PMID:20556423|PMID:20835242|PMID:21931868|PMID:23778732|PMID:24033266|PMID:24599544|PMID:25741868|PMID:28492532|PMID:29178640
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:14694	Johanson-Blizzard syndrome		ISS	RGD:1623272	D	RGD:13592920	20230718	MouseDO		OMIM:243800	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:1909	melanoma		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:1936	atherosclerosis		ISO	RGD:1347280	D	RGD:155882464|PMID:33381146	20230123	RGD		associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human)	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:3275	thymoma		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347280	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:630	genetic disease		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26989884|PMID:28492532
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:9001423	Combined Exocrine Pancreatic Insufficiency		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: JOHANSON-BLIZZARD SYNDROME | ClinVar Annotator: match by term: Johanson-Blizzard syndrome	PMID:16311597|PMID:18553553|PMID:19006206|PMID:19058315|PMID:20556423|PMID:20835242|PMID:21931868|PMID:23778732|PMID:24033266|PMID:24599544|PMID:25741868|PMID:28492532|PMID:29178640
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562326	Ubr1	ubiquitin protein ligase E3 component n-recognin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562327	Zbtb8b	zinc finger and BTB domain containing 8B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2307066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562331	Rspo2	R-spondin 2	gene	DOID:0112191	tetraamelia syndrome		ISO	RGD:1603855	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Tetraamelia-multiple malformations syndrome	PMID:25741868
1562331	Rspo2	R-spondin 2	gene	DOID:0112193	tetraamelia syndrome 2		ISO	RGD:1603855	D	RGD:7240710	20190605	OMIM			
1562331	Rspo2	R-spondin 2	gene	DOID:0112193	tetraamelia syndrome 2		ISO	RGD:1603855	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: TETRAAMELIA SYNDROME 2 | ClinVar Annotator: match by term: Tetraamelia syndrome 2	PMID:25741868|PMID:28492532|PMID:29769720
1562331	Rspo2	R-spondin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562331	Rspo2	R-spondin 2	gene	DOID:1324	lung cancer		ISO	RGD:1603855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562331	Rspo2	R-spondin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562331	Rspo2	R-spondin 2	gene	DOID:9002753	Humerofemoral Hypoplasia with Radiotibial Ray Deficiency		ISO	RGD:1603855	D	RGD:7240710	20190717	OMIM			
1562331	Rspo2	R-spondin 2	gene	DOID:9002753	Humerofemoral Hypoplasia with Radiotibial Ray Deficiency		ISO	RGD:1603855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Humerofemoral hypoplasia with radiotibial ray deficiency | ClinVar Annotator: match by term: RSPO2-related condition	PMID:25741868|PMID:28492532
1562332	Apol9a	apolipoprotein L9a	gene	DOID:0060058	lymphoma		ISO	RGD:1343358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562332	Apol9a	apolipoprotein L9a	gene	DOID:0080600	COVID-19		ISO	RGD:1343358	D	RGD:9068941	20220107	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1562332	Apol9a	apolipoprotein L9a	gene	DOID:10534	stomach cancer		ISO	RGD:1343358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562332	Apol9a	apolipoprotein L9a	gene	DOID:1115	sarcoma		ISO	RGD:1343358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562332	Apol9a	apolipoprotein L9a	gene	DOID:3275	thymoma		ISO	RGD:1343358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562332	Apol9a	apolipoprotein L9a	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562332	Apol9a	apolipoprotein L9a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562332	Apol9a	apolipoprotein L9a	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562332	Apol9a	apolipoprotein L9a	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1623802	D	RGD:11554173	20180717	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1562332	Apol9a	apolipoprotein L9a	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562332	Apol9a	apolipoprotein L9a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562333	Mreg	melanoregulin	gene	DOID:1115	sarcoma		ISO	RGD:1604338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562333	Mreg	melanoregulin	gene	DOID:4362	cervical cancer		ISO	RGD:1604338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562333	Mreg	melanoregulin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562333	Mreg	melanoregulin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562333	Mreg	melanoregulin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562333	Mreg	melanoregulin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562333	Mreg	melanoregulin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1562334	Ccdc63	coiled-coil domain containing 63	gene	DOID:10534	stomach cancer		ISO	RGD:1604733	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562334	Ccdc63	coiled-coil domain containing 63	gene	DOID:1115	sarcoma		ISO	RGD:1604733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562334	Ccdc63	coiled-coil domain containing 63	gene	DOID:1324	lung cancer		ISO	RGD:1604733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562334	Ccdc63	coiled-coil domain containing 63	gene	DOID:1909	melanoma		ISO	RGD:1604733	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21499247
1562334	Ccdc63	coiled-coil domain containing 63	gene	DOID:1909	melanoma		ISO	RGD:1604733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562334	Ccdc63	coiled-coil domain containing 63	gene	DOID:3275	thymoma		ISO	RGD:1604733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562334	Ccdc63	coiled-coil domain containing 63	gene	DOID:4362	cervical cancer		ISO	RGD:1604733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562334	Ccdc63	coiled-coil domain containing 63	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562334	Ccdc63	coiled-coil domain containing 63	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562335	Fam193b	family with sequence similarity 193, member B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562335	Fam193b	family with sequence similarity 193, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562335	Fam193b	family with sequence similarity 193, member B	gene	DOID:10534	stomach cancer		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562335	Fam193b	family with sequence similarity 193, member B	gene	DOID:3070	high grade glioma		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562335	Fam193b	family with sequence similarity 193, member B	gene	DOID:3275	thymoma		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562335	Fam193b	family with sequence similarity 193, member B	gene	DOID:4362	cervical cancer		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562335	Fam193b	family with sequence similarity 193, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562335	Fam193b	family with sequence similarity 193, member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562335	Fam193b	family with sequence similarity 193, member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562335	Fam193b	family with sequence similarity 193, member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562335	Fam193b	family with sequence similarity 193, member B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562337	Mier1	MIER1 transcriptional regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562337	Mier1	MIER1 transcriptional regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1605649	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562337	Mier1	MIER1 transcriptional regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562337	Mier1	MIER1 transcriptional regulator	gene	DOID:1324	lung cancer		ISO	RGD:1605649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562337	Mier1	MIER1 transcriptional regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1605649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562337	Mier1	MIER1 transcriptional regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562337	Mier1	MIER1 transcriptional regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562337	Mier1	MIER1 transcriptional regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562339	C11h3orf70	similar to human chromosome 3 open reading frame 70	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562339	C11h3orf70	similar to human chromosome 3 open reading frame 70	gene	DOID:4362	cervical cancer		ISO	RGD:1605238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562339	C11h3orf70	similar to human chromosome 3 open reading frame 70	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562339	C11h3orf70	similar to human chromosome 3 open reading frame 70	gene	DOID:9001573	Experimental Liver Cirrhosis		EXP		D	RGD:11554173	20180130	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1562339	C11h3orf70	similar to human chromosome 3 open reading frame 70	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562343	Mageb3	MAGE family member B3	gene	DOID:0060058	lymphoma		ISO	RGD:1353042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562343	Mageb3	MAGE family member B3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:10534	stomach cancer		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:10907	microcephaly		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:1115	sarcoma		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:12849	autistic disorder		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:1682	congenital heart disease		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:1909	melanoma		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:3070	high grade glioma		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:4362	cervical cancer		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1607057	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:540	strabismus		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1607057	D	RGD:8554872	20170808	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:28580594
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:630	genetic disease		ISO	RGD:1607057	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:9002720	Splenomegaly		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:9002816	CHOPRA-AMIEL-GORDON SYNDROME		ISO	RGD:1607057	D	RGD:7240710	20211020	OMIM			
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:9002816	CHOPRA-AMIEL-GORDON SYNDROME		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANKRD17-related condition | ClinVar Annotator: match by term: CHOPRA-AMIEL-GORDON SYNDROME | ClinVar Annotator: match by term: Chopra-Amiel-Gordon syndrome	PMID:25741868|PMID:29758562|PMID:33909992
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:9007573	Flatfoot		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:9007661	Dwarfism		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1562348	Ankrd17	ankyrin repeat domain 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562350	Uqcrq	ubiquinol-cytochrome c reductase, complex III subunit VII	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1604364	D	RGD:11554173	20190319	CTD		CTD Direct Evidence: marker/mechanism	
1562350	Uqcrq	ubiquinol-cytochrome c reductase, complex III subunit VII	gene	DOID:0080113	mitochondrial complex III deficiency nuclear type 4		ISO	RGD:1604364	D	RGD:7240710	20140903	OMIM			
1562350	Uqcrq	ubiquinol-cytochrome c reductase, complex III subunit VII	gene	DOID:0080113	mitochondrial complex III deficiency nuclear type 4		ISO	RGD:1604364	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 4 | ClinVar Annotator: match by term: UQCRQ-related condition	PMID:18439546|PMID:25741868|PMID:28492532
1562350	Uqcrq	ubiquinol-cytochrome c reductase, complex III subunit VII	gene	DOID:10534	stomach cancer		ISO	RGD:1604364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562350	Uqcrq	ubiquinol-cytochrome c reductase, complex III subunit VII	gene	DOID:1324	lung cancer		ISO	RGD:1604364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562350	Uqcrq	ubiquinol-cytochrome c reductase, complex III subunit VII	gene	DOID:4362	cervical cancer		ISO	RGD:1604364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562350	Uqcrq	ubiquinol-cytochrome c reductase, complex III subunit VII	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562350	Uqcrq	ubiquinol-cytochrome c reductase, complex III subunit VII	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562351	Tmem243	transmembrane protein 243	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562351	Tmem243	transmembrane protein 243	gene	DOID:0060058	lymphoma		ISO	RGD:1349104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562351	Tmem243	transmembrane protein 243	gene	DOID:10534	stomach cancer		ISO	RGD:1349104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562351	Tmem243	transmembrane protein 243	gene	DOID:1115	sarcoma		ISO	RGD:1349104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562351	Tmem243	transmembrane protein 243	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562356	Sntn	sentan, cilia apical structure protein	gene	DOID:1324	lung cancer		ISO	RGD:2306150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562356	Sntn	sentan, cilia apical structure protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2306150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562356	Sntn	sentan, cilia apical structure protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2306150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562356	Sntn	sentan, cilia apical structure protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2306150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562358	Tmem225	transmembrane protein 225	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562358	Tmem225	transmembrane protein 225	gene	DOID:10534	stomach cancer		ISO	RGD:1605235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562365	Mageb16	MAGE family member B16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562365	Mageb16	MAGE family member B16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562369	Satb2	SATB homeobox 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1343440	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562369	Satb2	SATB homeobox 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343440	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1562369	Satb2	SATB homeobox 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:0060249	scoliosis		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25533962|PMID:25741868|PMID:28151491|PMID:28787087|PMID:31021519
1562369	Satb2	SATB homeobox 2	gene	DOID:0060428	SATB2-associated syndrome		ISO	RGD:1343440	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562369	Satb2	SATB homeobox 2	gene	DOID:0060428	SATB2-associated syndrome		ISO	RGD:1343440	D	RGD:7240710	20141015	OMIM			
1562369	Satb2	SATB homeobox 2	gene	DOID:0060428	SATB2-associated syndrome		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome | ClinVar Annotator: match by term: GLASS SYNDROME | ClinVar Annotator: match by term: Glass syndrome | ClinVar Annotator: match by term: SATB2 associated disorder | ClinVar Annotator: match by term: SATB2-associated syndrome | ClinVar Annotator: match by term: SATB2-related condition | ClinVar Annotator: match by term: SATB2-related disorder | ClinVar Annotator: match by term: chromosome 2q32-q33 deletion syndrome	PMID:16199547|PMID:17377962|PMID:17576681|PMID:21343628|PMID:23788249|PMID:23925499|PMID:24301056|PMID:24884844|PMID:25118029|PMID:25326637|PMID:25356970|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25885067|PMID:26596517|PMID:26944241|PMID:27774744|PMID:28135719|PMID:28139846|PMID:28151491|PMID:28211976|PMID:28492532|PMID:28787087|PMID:29023086|PMID:29436146|PMID:30575289|PMID:30848049|PMID:30945278|PMID:31021519|PMID:31279624|PMID:31302918|PMID:31440721|PMID:31785789|PMID:31849593|PMID:32581362|PMID:33004838|PMID:33057194|PMID:33274544|PMID:33624935|PMID:33726816|PMID:34234817|PMID:35241104|PMID:37786328|PMID:9536098
1562369	Satb2	SATB homeobox 2	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angelman syndrome-like	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:0110213	isolated cleft palate		ISO	RGD:1343440	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Isolated cleft palate	PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28151491|PMID:28211976|PMID:28492532|PMID:32581362
1562369	Satb2	SATB homeobox 2	gene	DOID:0110213	isolated cleft palate		ISS	RGD:1558379	D	RGD:13592920	20180518	MouseDO		OMIM:119540	
1562369	Satb2	SATB homeobox 2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
1562369	Satb2	SATB homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562369	Satb2	SATB homeobox 2	gene	DOID:1059	intellectual disability		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual deficiency | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:23788249|PMID:25326635|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28151491|PMID:28211976|PMID:28492532|PMID:28787087|PMID:29023086|PMID:31021519|PMID:32581362
1562369	Satb2	SATB homeobox 2	gene	DOID:1059	intellectual disability		ISO	RGD:1343440	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual deficiency | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17377962|PMID:23788249|PMID:23925499|PMID:24301056|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28151491|PMID:28211976|PMID:28492532|PMID:28787087|PMID:29023086|PMID:31021519|PMID:32581362
1562369	Satb2	SATB homeobox 2	gene	DOID:1059	intellectual disability		ISO	RGD:1343440	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17377962|PMID:23788249|PMID:23925499|PMID:24301056|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28139846|PMID:28151491|PMID:28211976|PMID:28492532|PMID:28787087|PMID:29023086|PMID:30848049|PMID:31021519|PMID:32581362
1562369	Satb2	SATB homeobox 2	gene	DOID:1059	intellectual disability		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual deficiency | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17377962|PMID:23788249|PMID:23925499|PMID:24301056|PMID:25356970|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:26944241|PMID:28139846|PMID:28151491|PMID:28211976|PMID:28492532|PMID:28787087|PMID:29023086|PMID:30575289|PMID:30848049|PMID:31021519|PMID:32581362|PMID:37786328
1562369	Satb2	SATB homeobox 2	gene	DOID:10907	microcephaly		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17377962|PMID:23925499|PMID:24301056|PMID:25741868|PMID:25885067|PMID:28139846|PMID:28151491|PMID:28492532|PMID:29023086|PMID:30848049
1562369	Satb2	SATB homeobox 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:1115	sarcoma		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562369	Satb2	SATB homeobox 2	gene	DOID:11476	osteoporosis		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:25356970|PMID:25741868|PMID:25885067|PMID:26944241|PMID:28139846|PMID:28492532|PMID:30575289|PMID:37786328
1562369	Satb2	SATB homeobox 2	gene	DOID:11782	astigmatism		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:11836	clubfoot		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:25885067|PMID:28151491|PMID:28492532
1562369	Satb2	SATB homeobox 2	gene	DOID:12273	anisometropia		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anisometropia	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:12849	autistic disorder		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:17377962|PMID:23925499|PMID:24301056|PMID:25741868|PMID:25885067|PMID:28139846|PMID:28151491|PMID:28492532|PMID:29023086|PMID:30848049
1562369	Satb2	SATB homeobox 2	gene	DOID:1324	lung cancer		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562369	Satb2	SATB homeobox 2	gene	DOID:13620	patent foramen ovale		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:23788249
1562369	Satb2	SATB homeobox 2	gene	DOID:1826	epilepsy		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17377962|PMID:23925499|PMID:24301056|PMID:25741868|PMID:25885067|PMID:28139846|PMID:28151491|PMID:28492532|PMID:29023086|PMID:30848049
1562369	Satb2	SATB homeobox 2	gene	DOID:1909	melanoma		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562369	Satb2	SATB homeobox 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25356970|PMID:25741868|PMID:25885067|PMID:26944241|PMID:28139846|PMID:28492532|PMID:30575289|PMID:37786328
1562369	Satb2	SATB homeobox 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562369	Satb2	SATB homeobox 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:3275	thymoma		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562369	Satb2	SATB homeobox 2	gene	DOID:3315	lipoma		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lipoma	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562369	Satb2	SATB homeobox 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562369	Satb2	SATB homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343440	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562369	Satb2	SATB homeobox 2	gene	DOID:540	strabismus		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25356970|PMID:25741868|PMID:25885067|PMID:26944241|PMID:28139846|PMID:28151491|PMID:28492532|PMID:30575289|PMID:37786328
1562369	Satb2	SATB homeobox 2	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1343440	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1562369	Satb2	SATB homeobox 2	gene	DOID:543	dystonia		ISO	RGD:1343440	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28151491|PMID:28211976|PMID:28492532|PMID:32581362
1562369	Satb2	SATB homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12915443|PMID:18187506|PMID:21089028|PMID:24884844|PMID:25356970|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:26944241|PMID:27409069|PMID:27462121|PMID:28139846|PMID:28151491|PMID:28211976|PMID:28492532|PMID:29436146|PMID:30575289|PMID:31021519|PMID:31302918|PMID:32581362|PMID:37786328
1562369	Satb2	SATB homeobox 2	gene	DOID:674	cleft palate		ISO	RGD:1343440	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16960803|PMID:19170718
1562369	Satb2	SATB homeobox 2	gene	DOID:674	cleft palate		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:17377962|PMID:23925499|PMID:24301056|PMID:25356970|PMID:25741868|PMID:25885067|PMID:26944241|PMID:28139846|PMID:28151491|PMID:28492532|PMID:29023086|PMID:30575289|PMID:30848049|PMID:37786328
1562369	Satb2	SATB homeobox 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562369	Satb2	SATB homeobox 2	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25356970|PMID:25741868|PMID:25885067|PMID:26944241|PMID:28139846|PMID:28492532|PMID:30575289|PMID:37786328
1562369	Satb2	SATB homeobox 2	gene	DOID:9003132	Sialorrhea		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25662172|PMID:28139846
1562369	Satb2	SATB homeobox 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25533962|PMID:25741868|PMID:28151491|PMID:28787087|PMID:31021519
1562369	Satb2	SATB homeobox 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25533962|PMID:25741868|PMID:28151491|PMID:28787087|PMID:31021519
1562369	Satb2	SATB homeobox 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562369	Satb2	SATB homeobox 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343440	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:24884844|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28151491|PMID:28211976|PMID:28492532|PMID:31021519|PMID:31302918|PMID:32581362
1562369	Satb2	SATB homeobox 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1562369	Satb2	SATB homeobox 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1562369	Satb2	SATB homeobox 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	
1562369	Satb2	SATB homeobox 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:25356970|PMID:25741868|PMID:25885067|PMID:26944241|PMID:28139846|PMID:28492532|PMID:30575289|PMID:37786328
1562369	Satb2	SATB homeobox 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:23788249|PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:25741868|PMID:25885067|PMID:28151491|PMID:28492532
1562369	Satb2	SATB homeobox 2	gene	DOID:9006065	Arthralgia		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25356970|PMID:25741868|PMID:25885067|PMID:26944241|PMID:28139846|PMID:28492532|PMID:30575289|PMID:37786328
1562369	Satb2	SATB homeobox 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:24884844|PMID:25533962|PMID:25741868|PMID:28151491|PMID:28492532|PMID:31302918
1562369	Satb2	SATB homeobox 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1343440	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26780400
1562369	Satb2	SATB homeobox 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25356970|PMID:25741868|PMID:25885067|PMID:26944241|PMID:28139846|PMID:28492532|PMID:30575289|PMID:37786328
1562369	Satb2	SATB homeobox 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343440	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17377962|PMID:23925499|PMID:24301056|PMID:24884844|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28139846|PMID:28151491|PMID:28211976|PMID:28492532|PMID:28787087|PMID:29023086|PMID:30848049|PMID:31021519|PMID:31302918|PMID:31849593|PMID:32581362
1562369	Satb2	SATB homeobox 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1343440	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
1562369	Satb2	SATB homeobox 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1343440	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1343440	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16960803
1562369	Satb2	SATB homeobox 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562369	Satb2	SATB homeobox 2	gene	DOID:936	brain disease		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: Vertical nystagmus	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:9834	hyperopia		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1562369	Satb2	SATB homeobox 2	gene	DOID:9840	esotropia		ISO	RGD:1343440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: crossed eyes	PMID:25741868
1562370	Dnaaf19	dynein axonemal assembly factor 19	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1602038	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581229
1562370	Dnaaf19	dynein axonemal assembly factor 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562370	Dnaaf19	dynein axonemal assembly factor 19	gene	DOID:0110621	primary ciliary dyskinesia 17		ISO	RGD:1602038	D	RGD:7240710	20140911	OMIM			
1562370	Dnaaf19	dynein axonemal assembly factor 19	gene	DOID:0110621	primary ciliary dyskinesia 17		ISO	RGD:1602038	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 17 | ClinVar Annotator: match by term: Primary ciliary dyskinesia 17	PMID:24033266|PMID:25741868|PMID:28492532
1562370	Dnaaf19	dynein axonemal assembly factor 19	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1602038	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:22581229|PMID:23891469|PMID:24033266|PMID:24357714|PMID:25741868|PMID:26123568|PMID:27637300|PMID:28492532|PMID:28790179|PMID:30067075
1562370	Dnaaf19	dynein axonemal assembly factor 19	gene	DOID:1115	sarcoma		ISO	RGD:1602038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562370	Dnaaf19	dynein axonemal assembly factor 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562370	Dnaaf19	dynein axonemal assembly factor 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562370	Dnaaf19	dynein axonemal assembly factor 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602038	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562370	Dnaaf19	dynein axonemal assembly factor 19	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1602038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:22581229|PMID:24033266|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30067075|PMID:35626283|PMID:9536098
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0060232	branchiootic syndrome		ISO	RGD:1351643	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inner ear Malformation	
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0060250	idiopathic scoliosis		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1	PMID:25741868|PMID:28492532
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0070602	autosomal dominant nonsyndromic deafness 80		ISO	RGD:1351643	D	RGD:7240710	20210505	OMIM			
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0070602	autosomal dominant nonsyndromic deafness 80		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 80	PMID:25741868|PMID:28492532
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0112177	Mayer-Rokitansky-Kuster-Hauser syndrome		ISO	RGD:1351643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Aplasia of the uterus	PMID:25741868
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:0112178	Mayer-Rokitansky-Kuster-Hauser syndrome type 1		ISO	RGD:1351643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mayer Rokitansky Kuster Hauser syndrome type 1	PMID:25741868
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:1059	intellectual disability		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:1148	polydactyly		ISO	RGD:1351643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:28492532|PMID:32378186
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:12215	oligohydramnios		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anhydramnios	PMID:25741868|PMID:35005812
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:14766	renal agenesis		ISO	RGD:1351643	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bilateral renal agenesis	PMID:25741868
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:5041	esophageal cancer		ISO	RGD:1351643	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:9003763	Renal Hypodysplasia/Aplasia 1		ISO	RGD:1351643	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Renal agenesis and hypodysplasia	PMID:28492532|PMID:29100090
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:9004538	Hearing Loss		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:9009100	Renal Hypodysplasia/Aplasia 3		ISO	RGD:1351643	D	RGD:7240710	20190315	OMIM			
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:9009100	Renal Hypodysplasia/Aplasia 3		ISO	RGD:1351643	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: GREB1L-related condition | ClinVar Annotator: match by term: RENAL HYPODYSPLASIA/APLASIA 3 | ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 3	PMID:25741868|PMID:28492532|PMID:28739660|PMID:29100090|PMID:29100091|PMID:30143558|PMID:32378186|PMID:32585897|PMID:32598191|PMID:33532864|PMID:34906515|PMID:35005812|PMID:36371238|PMID:38309594
1562371	Greb1l	GREB1 like retinoic acid receptor coactivator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562373	Acaa1b	acetyl-Coenzyme A acyltransferase 1B	gene	DOID:6000	congestive heart failure		ISO	RGD:1621308	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670611
1562380	Drg2	developmentally regulated GTP binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562380	Drg2	developmentally regulated GTP binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1343223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562380	Drg2	developmentally regulated GTP binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1343223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562380	Drg2	developmentally regulated GTP binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562382	Slc47a2	solute carrier family 47 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562382	Slc47a2	solute carrier family 47 member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562382	Slc47a2	solute carrier family 47 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603576	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562382	Slc47a2	solute carrier family 47 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562382	Slc47a2	solute carrier family 47 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562382	Slc47a2	solute carrier family 47 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:24033266|PMID:25741868|PMID:27647349|PMID:28112205|PMID:28492532|PMID:33046446
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:0060180	colitis		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colitis	PMID:25741868
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis	
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:0111984	immunodeficiency 58		ISO	RGD:1605284	D	RGD:7240710	20190315	OMIM			
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:0111984	immunodeficiency 58		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CARMIL2-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 58 | ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency	PMID:16199547|PMID:24033266|PMID:25741868|PMID:27647349|PMID:27896283|PMID:28112205|PMID:28492532|PMID:29479355|PMID:35753512
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:1324	lung cancer		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:1909	melanoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:630	genetic disease		ISO	RGD:1605284	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:24033266|PMID:25741868|PMID:28492532
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562390	Carmil2	capping protein regulator and myosin 1 linker 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562393	Defb21	defensin beta 21	gene	DOID:10534	stomach cancer		ISO	RGD:1344518	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562395	Spz1	spermatogenic leucine zipper 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606768	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1619087	D	RGD:13592920	20190516	MouseDO			
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1605275	D	RGD:8554872	20170718	ClinVar		ClinVar Annotator: match by term: Smith-Magenis Syndrome-like	PMID:27799067
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1605275	D	RGD:8554872	20170912	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1605275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1605275	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17519220
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1605275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1605275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1605275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605275	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562401	Jakmip1	janus kinase and microtubule interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562406	Sap25	Sin3A-associated protein 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:5132311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605391	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:21522184|PMID:23033978|PMID:25356899|PMID:26264232|PMID:26325558|PMID:26757981
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0060479	Shwachman-Diamond syndrome		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Shwachman syndrome	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0080855	Parkinsonism		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0081126	DeSanto-Shinawi syndrome		ISO	RGD:1605391	D	RGD:7240710	20190315	OMIM			
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:0081126	DeSanto-Shinawi syndrome		ISO	RGD:1605391	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DESANTO-SHINAWI SYNDROME | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Desanto-Shinawi syndrome | ClinVar Annotator: match by term: Desanto-shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | ClinVar Annotator: match by term: WAC-related condition	PMID:23033978|PMID:25741868|PMID:26757981|PMID:28191890|PMID:28492532|PMID:33004838
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:10534	stomach cancer		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:1059	intellectual disability		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:10907	microcephaly		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:33004838
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:1115	sarcoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:11830	myopia		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:12849	autistic disorder		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:16199547|PMID:25741868|PMID:26264232|PMID:26757981|PMID:28492532
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:1324	lung cancer		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:1682	congenital heart disease		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:1826	epilepsy		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:23033978|PMID:25741868|PMID:28191890
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:2030	anxiety disorder		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:3087	gingivitis		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:3275	thymoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:4362	cervical cancer		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:480	movement disease		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:5041	esophageal cancer		ISO	RGD:1605391	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:535	sleep disorder		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:33004838
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:540	strabismus		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:543	dystonia		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16199547|PMID:26264232|PMID:26757981|PMID:28492532
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:630	genetic disease		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23033978|PMID:25741868|PMID:28492532
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9001581	Constipation		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605391	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28319090
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9003132	Sialorrhea		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9003507	Premature Birth		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9003591	Telecanthus		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:33004838
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605391	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605391	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9007573	Flatfoot		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9007661	Dwarfism		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26264232
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9008023	Memory Disorders		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23033978|PMID:25741868|PMID:28191890
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1562407	Wac	WW domain containing adaptor with coiled-coil	gene	DOID:9840	esotropia		ISO	RGD:1605391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esodeviation	PMID:25741868
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:11049992|PMID:15632210|PMID:15711562|PMID:16199547|PMID:28492532|PMID:9771704
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:0060704	lymphoproliferative syndrome		ISO	RGD:1346207	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10229804
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:0060704	lymphoproliferative syndrome		ISO	RGD:1346207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Duncan's syndrome | ClinVar Annotator: match by term: Lymphoproliferative syndrome | ClinVar Annotator: match by term: X-Linked Lymphoproliferative Syndrome | ClinVar Annotator: match by term: X-linked lymphoproliferative syndrome	PMID:10898506|PMID:11049992|PMID:11133747|PMID:11213803|PMID:11477068|PMID:11678908|PMID:14583885|PMID:15632210|PMID:15661030|PMID:15711562|PMID:15992610|PMID:20660790|PMID:21119115|PMID:22433061|PMID:23143765|PMID:24723092|PMID:25741868|PMID:26305518|PMID:28492532|PMID:29709555|PMID:32150605|PMID:33329693|PMID:9771704
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:0060705	X-linked lymphoproliferative syndrome 1		ISO	RGD:1346207	D	RGD:7240710	20200619	OMIM			
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:0060705	X-linked lymphoproliferative syndrome 1		ISO	RGD:1346207	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 | ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked | ClinVar Annotator: match by term: SH2D1A-related condition	PMID:10598819|PMID:11414741|PMID:11477068|PMID:15682426|PMID:16328363|PMID:23829589|PMID:25741868|PMID:28492532|PMID:9771704
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:0060705	X-linked lymphoproliferative syndrome 1		ISS	RGD:1557879	D	RGD:13592920	20230718	MouseDO		OMIM:308240	
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:11162	respiratory failure		ISO	RGD:1346207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:1588	thrombocytopenia		ISO	RGD:1346207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:1826	epilepsy		ISO	RGD:1346207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1346207	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:11049992|PMID:15711562|PMID:22970278|PMID:25741868|PMID:28492532|PMID:31415280|PMID:9771704
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:3526	cerebral infarction		ISO	RGD:1346207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cerebral infarction	PMID:10598819|PMID:10694488|PMID:10934222|PMID:11049992|PMID:11159547|PMID:11414741|PMID:11493483|PMID:11520777|PMID:12224001|PMID:14583885|PMID:15359110|PMID:15661030|PMID:15711562|PMID:15908972|PMID:19621458|PMID:21707584|PMID:22493517|PMID:24923536|PMID:24985396|PMID:25741868|PMID:27209435|PMID:28492532|PMID:9771704|PMID:9811875
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1346207	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:630	genetic disease		ISO	RGD:1346207	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:1346207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Burkitt lymphoma	PMID:10549287|PMID:25741868
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:9003824	Infectious Encephalitis		ISO	RGD:1346207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infectious encephalitis	
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:10556288|PMID:11049992|PMID:12894850|PMID:15632210|PMID:15711562|PMID:16199547|PMID:24616127|PMID:25741868|PMID:27577878|PMID:28492532|PMID:32615565|PMID:36790564|PMID:9771704
1562408	Sh2d1a	SH2 domain containing 1A	gene	DOID:9471	meningitis		ISO	RGD:1346207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningitis	
1562411	Rnft1	ring finger protein, transmembrane 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562411	Rnft1	ring finger protein, transmembrane 1	gene	DOID:1115	sarcoma		ISO	RGD:1606007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562411	Rnft1	ring finger protein, transmembrane 1	gene	DOID:1909	melanoma		ISO	RGD:1606007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562411	Rnft1	ring finger protein, transmembrane 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562411	Rnft1	ring finger protein, transmembrane 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562411	Rnft1	ring finger protein, transmembrane 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562411	Rnft1	ring finger protein, transmembrane 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606007	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562411	Rnft1	ring finger protein, transmembrane 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562411	Rnft1	ring finger protein, transmembrane 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562411	Rnft1	ring finger protein, transmembrane 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562411	Rnft1	ring finger protein, transmembrane 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562413	Armc2	armadillo repeat containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562413	Armc2	armadillo repeat containing 2	gene	DOID:0111919	spermatogenic failure 38		ISO	RGD:1350350	D	RGD:7240710	20190619	OMIM			
1562413	Armc2	armadillo repeat containing 2	gene	DOID:0111919	spermatogenic failure 38		ISO	RGD:1350350	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ARMC2-related disorder | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 38 | ClinVar Annotator: match by term: Spermatogenic failure 38	PMID:25741868|PMID:30686508
1562413	Armc2	armadillo repeat containing 2	gene	DOID:0111919	spermatogenic failure 38		ISS	RGD:1622123	D	RGD:13592920	20260312	MouseDO		OMIM:618433	
1562413	Armc2	armadillo repeat containing 2	gene	DOID:1909	melanoma		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562413	Armc2	armadillo repeat containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1562413	Armc2	armadillo repeat containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562413	Armc2	armadillo repeat containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562413	Armc2	armadillo repeat containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562413	Armc2	armadillo repeat containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562413	Armc2	armadillo repeat containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562413	Armc2	armadillo repeat containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562414	Endov	endonuclease V	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562414	Endov	endonuclease V	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562414	Endov	endonuclease V	gene	DOID:0060058	lymphoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562414	Endov	endonuclease V	gene	DOID:1115	sarcoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562414	Endov	endonuclease V	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562414	Endov	endonuclease V	gene	DOID:3070	high grade glioma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562414	Endov	endonuclease V	gene	DOID:3275	thymoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562414	Endov	endonuclease V	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562414	Endov	endonuclease V	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562414	Endov	endonuclease V	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562414	Endov	endonuclease V	gene	DOID:6039	uveal melanoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1562414	Endov	endonuclease V	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1562414	Endov	endonuclease V	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562414	Endov	endonuclease V	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562414	Endov	endonuclease V	gene	DOID:9256	colorectal cancer		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562416	Tsr2	TSR2, ribosome maturation factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562416	Tsr2	TSR2, ribosome maturation factor	gene	DOID:0111897	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis		ISO	RGD:1602842	D	RGD:7240710	20151111	OMIM			
1562416	Tsr2	TSR2, ribosome maturation factor	gene	DOID:0111897	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis		ISO	RGD:1602842	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | ClinVar Annotator: match by term: TSR2-related condition	PMID:24942156|PMID:25741868|PMID:28492532
1562416	Tsr2	TSR2, ribosome maturation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562416	Tsr2	TSR2, ribosome maturation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562417	Clnk	cytokine-dependent hematopoietic cell linker	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562417	Clnk	cytokine-dependent hematopoietic cell linker	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562417	Clnk	cytokine-dependent hematopoietic cell linker	gene	DOID:10534	stomach cancer		ISO	RGD:1605010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562417	Clnk	cytokine-dependent hematopoietic cell linker	gene	DOID:12306	vitiligo		ISO	RGD:1605010	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561518
1562417	Clnk	cytokine-dependent hematopoietic cell linker	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562417	Clnk	cytokine-dependent hematopoietic cell linker	gene	DOID:3275	thymoma		ISO	RGD:1605010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562417	Clnk	cytokine-dependent hematopoietic cell linker	gene	DOID:4362	cervical cancer		ISO	RGD:1605010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562417	Clnk	cytokine-dependent hematopoietic cell linker	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562417	Clnk	cytokine-dependent hematopoietic cell linker	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562417	Clnk	cytokine-dependent hematopoietic cell linker	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562417	Clnk	cytokine-dependent hematopoietic cell linker	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562417	Clnk	cytokine-dependent hematopoietic cell linker	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562424	Tmem156	transmembrane protein 156	gene	DOID:10534	stomach cancer		ISO	RGD:1605045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562424	Tmem156	transmembrane protein 156	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562424	Tmem156	transmembrane protein 156	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562424	Tmem156	transmembrane protein 156	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1562428	Arhgap40	Rho GTPase activating protein 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562428	Arhgap40	Rho GTPase activating protein 40	gene	DOID:4362	cervical cancer		ISO	RGD:1343259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562428	Arhgap40	Rho GTPase activating protein 40	gene	DOID:5041	esophageal cancer		ISO	RGD:1343259	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562428	Arhgap40	Rho GTPase activating protein 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562428	Arhgap40	Rho GTPase activating protein 40	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562428	Arhgap40	Rho GTPase activating protein 40	gene	DOID:9003566	Mesothelioma		ISO	RGD:1343259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1562428	Arhgap40	Rho GTPase activating protein 40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562432	Espnl	espin-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562432	Espnl	espin-like	gene	DOID:10534	stomach cancer		ISO	RGD:1602816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562432	Espnl	espin-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562432	Espnl	espin-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562432	Espnl	espin-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562432	Espnl	espin-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:37743782
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:0050562	West syndrome		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868|PMID:37743782
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:0060249	scoliosis		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:37743782
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:37743782
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:10534	stomach cancer		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomach cancer	
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:12859	choreatic disease		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868|PMID:37743782
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:1826	epilepsy		ISO	RGD:1343623	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:37743782
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:1827	generalized epilepsy		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:37743782
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:2846	bruxism		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:25741868|PMID:37743782
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:3275	thymoma		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:5041	esophageal cancer		ISO	RGD:1343623	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343623	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:37743782
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562434	Zbtb47	zinc finger and BTB domain containing 47	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562436	Nanos2	nanos C2HC-type zinc finger 2	gene	DOID:12336	male infertility		ISO	RGD:1354099	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22190708
1562437	Tcerg1l	transcription elongation regulator 1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346689	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562437	Tcerg1l	transcription elongation regulator 1-like	gene	DOID:10534	stomach cancer		ISO	RGD:1346689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562437	Tcerg1l	transcription elongation regulator 1-like	gene	DOID:4362	cervical cancer		ISO	RGD:1346689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562437	Tcerg1l	transcription elongation regulator 1-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562437	Tcerg1l	transcription elongation regulator 1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562437	Tcerg1l	transcription elongation regulator 1-like	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1346689	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:1342475	D	RGD:9684954|PMID:15714520	20141210	RGD		DNA:SNPs: :rs13133980,rs17443013(human)	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:1561	cognitive disorder	severity	ISO	RGD:1342475	D	RGD:9684953|PMID:23384821	20141210	RGD		DNA:SNP,haplotype: : rs13133980,rs17443013 (human)	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:1909	melanoma		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:3275	thymoma		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:9004657	Weight Gain		ISO	RGD:1342475	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562438	Apbb2	amyloid beta precursor protein binding family B member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1342475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562440	Mterf4	mitochondrial transcription termination factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562440	Mterf4	mitochondrial transcription termination factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1602073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562440	Mterf4	mitochondrial transcription termination factor 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562442	Irs4	insulin receptor substrate 4	gene	DOID:0111835	congenital nongoitrous hypothyroidism 9		ISO	RGD:1352224	D	RGD:7240710	20191002	OMIM			
1562442	Irs4	insulin receptor substrate 4	gene	DOID:0111835	congenital nongoitrous hypothyroidism 9		ISO	RGD:1352224	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 | ClinVar Annotator: match by term: IRS4-related condition	PMID:25741868
1562442	Irs4	insulin receptor substrate 4	gene	DOID:1324	lung cancer	treatment	ISO	RGD:1352224	D	RGD:151347872|PMID:33894221	20220208	RGD		human cells in mouse model	
1562442	Irs4	insulin receptor substrate 4	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1352224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1562442	Irs4	insulin receptor substrate 4	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1352224	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1562442	Irs4	insulin receptor substrate 4	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1352224	D	RGD:151347872|PMID:33894221	20220208	RGD		protein:increased expression:lung (human)	
1562442	Irs4	insulin receptor substrate 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1352224	D	RGD:151347867|PMID:29353348	20220207	RGD		protein:increased expression:colorectum (human)	
1562442	Irs4	insulin receptor substrate 4	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1352224	D	RGD:151347868|PMID:29185229	20220207	RGD		protein:increased expression:colorectal mucosa (human)	
1562442	Irs4	insulin receptor substrate 4	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1352224	D	RGD:151347869|PMID:30410539	20220207	RGD		protein:increased expression:colorectum (human)	
1562444	Srpx2	sushi-repeat-containing protein, X-linked 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562444	Srpx2	sushi-repeat-containing protein, X-linked 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562444	Srpx2	sushi-repeat-containing protein, X-linked 2	gene	DOID:1115	sarcoma		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562444	Srpx2	sushi-repeat-containing protein, X-linked 2	gene	DOID:1826	epilepsy		ISO	RGD:1350450	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: epilepsy	PMID:25741868
1562444	Srpx2	sushi-repeat-containing protein, X-linked 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562444	Srpx2	sushi-repeat-containing protein, X-linked 2	gene	DOID:3275	thymoma		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562444	Srpx2	sushi-repeat-containing protein, X-linked 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562444	Srpx2	sushi-repeat-containing protein, X-linked 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562444	Srpx2	sushi-repeat-containing protein, X-linked 2	gene	DOID:9008407	ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED		ISO	RGD:1350450	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562444	Srpx2	sushi-repeat-containing protein, X-linked 2	gene	DOID:9008407	ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED		ISO	RGD:1350450	D	RGD:7240710	20130221	OMIM			
1562444	Srpx2	sushi-repeat-containing protein, X-linked 2	gene	DOID:9008407	ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | ClinVar Annotator: match by term: SRPX2-related condition	PMID:16497722|PMID:18718938|PMID:23352160|PMID:23831613|PMID:24995671|PMID:25741868|PMID:26467025|PMID:28492532
1562444	Srpx2	sushi-repeat-containing protein, X-linked 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1562447	Coq10a	coenzyme Q10A	gene	DOID:4362	cervical cancer		ISO	RGD:1602309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562447	Coq10a	coenzyme Q10A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602309	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1562447	Coq10a	coenzyme Q10A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562447	Coq10a	coenzyme Q10A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1562449	Faxc	failed axon connections homolog, metaxin like GST domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562449	Faxc	failed axon connections homolog, metaxin like GST domain containing	gene	DOID:10283	prostate cancer		ISO	RGD:1347110	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1562449	Faxc	failed axon connections homolog, metaxin like GST domain containing	gene	DOID:10283	prostate cancer		ISO	RGD:1347110	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1562449	Faxc	failed axon connections homolog, metaxin like GST domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1347110	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562449	Faxc	failed axon connections homolog, metaxin like GST domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562449	Faxc	failed axon connections homolog, metaxin like GST domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562449	Faxc	failed axon connections homolog, metaxin like GST domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562450	Atp6v1h	ATPase H+ transporting V1 subunit H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562450	Atp6v1h	ATPase H+ transporting V1 subunit H	gene	DOID:10534	stomach cancer		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562450	Atp6v1h	ATPase H+ transporting V1 subunit H	gene	DOID:1115	sarcoma		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562450	Atp6v1h	ATPase H+ transporting V1 subunit H	gene	DOID:1909	melanoma		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562450	Atp6v1h	ATPase H+ transporting V1 subunit H	gene	DOID:4362	cervical cancer		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562450	Atp6v1h	ATPase H+ transporting V1 subunit H	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562450	Atp6v1h	ATPase H+ transporting V1 subunit H	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320995	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562450	Atp6v1h	ATPase H+ transporting V1 subunit H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562450	Atp6v1h	ATPase H+ transporting V1 subunit H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562450	Atp6v1h	ATPase H+ transporting V1 subunit H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562450	Atp6v1h	ATPase H+ transporting V1 subunit H	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562452	Blzf1	basic leucine zipper nuclear factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562452	Blzf1	basic leucine zipper nuclear factor 1	gene	DOID:1909	melanoma		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562452	Blzf1	basic leucine zipper nuclear factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562452	Blzf1	basic leucine zipper nuclear factor 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1349052	D	RGD:14398326|PMID:26342799	20190416	RGD			
1562452	Blzf1	basic leucine zipper nuclear factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1562452	Blzf1	basic leucine zipper nuclear factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1607086	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18850583
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1607086	D	RGD:151665336|PMID:24743017	20220322	RGD		protein:increased expression:mucosa of oral region (human)	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:1607086	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:1607086	D	RGD:2315043|PMID:16080017	20091215	RGD		associated with Endometrial Neoplasms;protein:increased expression:endometrium	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1607086	D	RGD:2315029|PMID:19450994	20091214	RGD			
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:10286	prostate carcinoma		ISO	RGD:1607086	D	RGD:2315046|PMID:12670908	20091215	RGD			
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1607086	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18451165
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:1612	breast cancer		ISO	RGD:1607086	D	RGD:2315035|PMID:19350629	20091215	RGD		protein:increased expression:breast	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:1909	melanoma		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1607086	D	RGD:2315044|PMID:15351619	20091215	RGD		protein:increased expression:kidney	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1607086	D	RGD:2315038|PMID:18922157	20091215	RGD			
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1607086	D	RGD:13825152|PMID:12107105	20181120	RGD		mRNA:increased expression:lung:	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:684	hepatocellular carcinoma		IEP		D	RGD:2315050|PMID:19533683	20091215	RGD		protein:increased expression:liver	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607086	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12717389
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:8991	cervix uteri carcinoma in situ	severity	ISO	RGD:1607086	D	RGD:2315036|PMID:19094580	20091215	RGD		associated with Papillomavirus Infections	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1607086	D	RGD:2315043|PMID:16080017	20091215	RGD		associated with Endometrial Neoplasms;protein:increased expression:endometrium	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:9000998	Brain Injuries		IEP		D	RGD:2315049|PMID:19852587	20091215	RGD		protein:increased expression:brain	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1607086	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19636294
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1607086	D	RGD:2315042|PMID:16525656	20091215	RGD			
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1607086	D	RGD:2302384|PMID:18559093	20091215	RGD		DNA, mRNA:amplification, increased expression:uterine cervix	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:9003373	Uterine Cervical Neoplasms	disease_progression	ISO	RGD:1607086	D	RGD:2315036|PMID:19094580	20091215	RGD		associated with Papillomavirus Infections	
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:9005882	Spine Osteoarthritis		ISO	RGD:1607086	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34697729
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1607086	D	RGD:2315045|PMID:15220466	20091215	RGD			
1562456	Skp2	S-phase kinase associated protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562463	Fbxo44	F-box protein 44	gene	DOID:10534	stomach cancer		ISO	RGD:1606989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562463	Fbxo44	F-box protein 44	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1606989	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1562463	Fbxo44	F-box protein 44	gene	DOID:3275	thymoma		ISO	RGD:1606989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562463	Fbxo44	F-box protein 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562463	Fbxo44	F-box protein 44	gene	DOID:6039	uveal melanoma		ISO	RGD:1606989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1562463	Fbxo44	F-box protein 44	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1562463	Fbxo44	F-box protein 44	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606989	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
1562463	Fbxo44	F-box protein 44	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562464	Vsig8	V-set and immunoglobulin domain containing 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562464	Vsig8	V-set and immunoglobulin domain containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1603819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562464	Vsig8	V-set and immunoglobulin domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562464	Vsig8	V-set and immunoglobulin domain containing 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562468	Aph1b	aph-1B gamma-secretase subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562468	Aph1b	aph-1B gamma-secretase subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562468	Aph1b	aph-1B gamma-secretase subunit	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1344589	D	RGD:11554173	20210413	CTD		CTD Direct Evidence: marker/mechanism	PMID:33589840
1562468	Aph1b	aph-1B gamma-secretase subunit	gene	DOID:1115	sarcoma		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562468	Aph1b	aph-1B gamma-secretase subunit	gene	DOID:1909	melanoma		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562468	Aph1b	aph-1B gamma-secretase subunit	gene	DOID:3393	coronary artery disease		ISO	RGD:1344589	D	RGD:13703124|PMID:18987747	20180803	RGD		DNA:SNP:CDS:p.F217L (rs1047552) (human)	
1562468	Aph1b	aph-1B gamma-secretase subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562468	Aph1b	aph-1B gamma-secretase subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562468	Aph1b	aph-1B gamma-secretase subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562468	Aph1b	aph-1B gamma-secretase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562468	Aph1b	aph-1B gamma-secretase subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562468	Aph1b	aph-1B gamma-secretase subunit	gene	DOID:9003284	HIV Seropositivity	susceptibility	ISO	RGD:1344589	D	RGD:13703126|PMID:19774691	20180803	RGD		DNA:SNP:CDS:p.F217L (rs1047552) (human)	
1562468	Aph1b	aph-1B gamma-secretase subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562468	Aph1b	aph-1B gamma-secretase subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:156411972|RGD:156412295|RGD:156413506|RGD:156415136|RGD:156418572|RGD:156419011|RGD:156420039|RGD:156435351|RGD:156440412|RGD:156441831|RGD:156442494|RGD:156443807|RGD:156444113|RGD:156446253|RGD:156446975|RGD:156447035|RGD:156447529|RGD:156449185|RGD:156449424|RGD:156449762|RGD:156449908|RGD:21067172|RGD:21070773|RGD:26884909|RGD:26886094|RGD:26886155|RGD:26887100|RGD:26889503|RGD:26889981|RGD:26890217|RGD:26890229|RGD:26898563|RGD:26899909|RGD:26900026|RGD:26903904|RGD:26905344|RGD:26907264|RGD:26912777|RGD:26913916|RGD:26914320|RGD:26914584|RGD:26916619|RGD:26919038|RGD:26919211|RGD:26919378|RGD:26922048|RGD:26922686|RGD:26922871|RGD:28867360|RGD:28867490|RGD:28873238|RGD:28873560|RGD:28881308|RGD:28881614|RGD:329401587|RGD:38457467|RGD:38464178|RGD:38464235|RGD:38464818|RGD:38468950|RGD:38470160|RGD:38472276|RGD:38472739|RGD:38475510|RGD:38475874|RGD:38476100|RGD:38479316|RGD:38479783|RGD:38481728|RGD:38484437|RGD:38489688|RGD:38489838|RGD:38490744|RGD:38491033|RGD:38492215|RGD:38492452|RGD:38492758|RGD:38494710|RGD:38495969|RGD:38496466|RGD:38498052|RGD:38498899|RGD:38499191|RGD:402464224|RGD:402468440|RGD:402474845|RGD:402485787|RGD:402501840|RGD:402504015|RGD:402504145|RGD:402504155|RGD:402504176|RGD:402504261|RGD:402504461|RGD:402504470|RGD:402504509|RGD:402504930|RGD:402505107|RGD:402505262|RGD:402505348|RGD:402505370|RGD:402505539|RGD:402505602|RGD:402505946|RGD:402505995|RGD:402506134|RGD:402506150|RGD:402506215|RGD:402506298|RGD:402506646|RGD:402506669|RGD:402506907|RGD:402506946|RGD:402506980|RGD:402507261|RGD:402507373|RGD:402507423|RGD:402507492|RGD:402507835|RGD:402507850|RGD:402507887|RGD:402508206|RGD:402508414|RGD:402509063|RGD:402509107	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the nebulin gene	PMID:28492532
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:0110928	nemaline myopathy 2		ISO	RGD:405043274|RGD:405043326|RGD:405043416|RGD:405043542|RGD:405043605|RGD:405043692|RGD:405044164|RGD:405044218|RGD:405044394|RGD:405044438|RGD:405044628|RGD:405044694|RGD:405045192|RGD:405045385|RGD:405045399|RGD:405045501|RGD:405045542|RGD:405045584|RGD:405045790|RGD:405045804|RGD:405045922|RGD:405046065|RGD:405046407|RGD:405046456|RGD:405046592|RGD:405046603|RGD:405046718|RGD:405046757|RGD:405046794|RGD:405047178|RGD:405047367|RGD:405047406|RGD:405047482|RGD:405047832|RGD:405048086|RGD:405048343|RGD:405049082|RGD:405049138|RGD:405049453|RGD:405049769|RGD:405049883|RGD:405049898|RGD:405049924|RGD:405051475|RGD:405058954|RGD:405063540|RGD:405078726|RGD:405081736|RGD:405082935|RGD:405082974|RGD:405083857|RGD:405090865|RGD:405092027|RGD:405106182|RGD:405131762|RGD:405133397|RGD:405136652|RGD:405136989|RGD:405139631|RGD:405145886|RGD:405146890|RGD:405149855|RGD:405150138|RGD:405157383|RGD:405158750|RGD:405159339|RGD:405168163|RGD:405168642|RGD:405169858|RGD:405172547|RGD:405179917|RGD:405184963|RGD:405185355|RGD:405185896|RGD:405189675|RGD:405191500|RGD:405192123|RGD:405192142|RGD:405193343|RGD:405193992|RGD:405194911|RGD:405199043|RGD:405204089|RGD:405204705|RGD:405207272|RGD:405209521|RGD:405209649|RGD:405214770|RGD:405219708|RGD:405222485|RGD:405223700|RGD:405224235|RGD:405230977|RGD:405231432|RGD:405232058|RGD:405232598|RGD:405232714|RGD:405234037|RGD:405234791|RGD:405235698|RGD:405235915|RGD:405237470|RGD:405246650|RGD:405247834|RGD:405250307|RGD:405250890|RGD:405251571|RGD:405251574|RGD:405253522|RGD:405254196|RGD:405254377|RGD:405255232|RGD:405255279|RGD:8629879|RGD:8629880|RGD:8642037|RGD:8660169	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the nebulin gene	PMID:28492532
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:1909	melanoma		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:3275	thymoma		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352449	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562474	Rif1	replication timing regulatory factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562476	Lage3	L antigen family, member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562476	Lage3	L antigen family, member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562476	Lage3	L antigen family, member 3	gene	DOID:0080244	Galloway-Mowat syndrome 2		ISO	RGD:1602901	D	RGD:7240710	20190315	OMIM			
1562476	Lage3	L antigen family, member 3	gene	DOID:0080244	Galloway-Mowat syndrome 2		ISO	RGD:1602901	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 2, X-LINKED | ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked | ClinVar Annotator: match by term: LAGE3-related condition	PMID:25741868|PMID:28492532
1562476	Lage3	L antigen family, member 3	gene	DOID:0080694	Galloway-Mowat syndrome		ISO	RGD:1602901	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28805828
1562476	Lage3	L antigen family, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562476	Lage3	L antigen family, member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562476	Lage3	L antigen family, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562478	Rab17	RAB17, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562478	Rab17	RAB17, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1346493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562478	Rab17	RAB17, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1346493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562478	Rab17	RAB17, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562478	Rab17	RAB17, member RAS oncogene family	gene	DOID:6039	uveal melanoma		ISO	RGD:1346493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1562478	Rab17	RAB17, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562478	Rab17	RAB17, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562483	Hoxa13	homeo box A13	gene	DOID:0060739	hand-foot-genital syndrome		ISO	RGD:1346914	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9020844|PMID:24239177
1562483	Hoxa13	homeo box A13	gene	DOID:0060739	hand-foot-genital syndrome		ISO	RGD:1346914	D	RGD:1599526|PMID:9020844	20070206	RGD		hand-foot-genital syndrome, OMIM:140000	
1562483	Hoxa13	homeo box A13	gene	DOID:0060739	hand-foot-genital syndrome		ISO	RGD:1346914	D	RGD:7240710	20150722	OMIM			
1562483	Hoxa13	homeo box A13	gene	DOID:0060739	hand-foot-genital syndrome		ISO	RGD:1346914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HAND-FOOT-GENITAL SYNDROME | ClinVar Annotator: match by term: HFG syndrome | ClinVar Annotator: match by term: Hand-foot-genital syndrome	PMID:10839976|PMID:25741868|PMID:28492532|PMID:9020844
1562483	Hoxa13	homeo box A13	gene	DOID:0060739	hand-foot-genital syndrome		ISS	RGD:1557892	D	RGD:13592920	20230718	MouseDO		OMIM:140000	
1562483	Hoxa13	homeo box A13	gene	DOID:0111544	Guttmacher syndrome		ISO	RGD:1346914	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24239177
1562483	Hoxa13	homeo box A13	gene	DOID:0111544	Guttmacher syndrome		ISO	RGD:1346914	D	RGD:7240710	20150722	OMIM			
1562483	Hoxa13	homeo box A13	gene	DOID:0111544	Guttmacher syndrome		ISO	RGD:1346914	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Guttmacher syndrome | ClinVar Annotator: match by term: HOXA13-related condition	PMID:25741868|PMID:28492532
1562483	Hoxa13	homeo box A13	gene	DOID:10892	hypospadias		IEP		D	RGD:12743602|PMID:27079746	20170209	RGD		mRNA:decreased expression:male genital tubercle	
1562483	Hoxa13	homeo box A13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562483	Hoxa13	homeo box A13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562483	Hoxa13	homeo box A13	gene	DOID:630	genetic disease		ISO	RGD:1346914	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1562483	Hoxa13	homeo box A13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346914	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1562483	Hoxa13	homeo box A13	gene	DOID:9001471	Anorectal Malformations		IEP		D	RGD:12743602|PMID:27079746	20170209	RGD		mRNA:decreased expression:rectum	
1562483	Hoxa13	homeo box A13	gene	DOID:9001471	Anorectal Malformations		IEP		D	RGD:1599527|PMID:17161201	20170208	RGD		mRNA:decreased expression:hindgut	
1562483	Hoxa13	homeo box A13	gene	DOID:9001611	Urogenital Abnormalities		ISO	RGD:1346914	D	RGD:1599526|PMID:9020844	20070206	RGD		hand-foot-genital syndrome, OMIM:140000	
1562483	Hoxa13	homeo box A13	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:1346914	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
1562483	Hoxa13	homeo box A13	gene	DOID:9004795	Congenital Hand Deformities		ISO	RGD:1346914	D	RGD:9068941	20200609	RGD		hand-foot-genital syndrome, OMIM:140000    DNA,protein:point_mutation:CDS:Trp369Ter	PMID:9020844|REF_RGD_ID:1599526
1562486	Dnajc5b	DnaJ heat shock protein family (Hsp40) member C5 beta	gene	DOID:1909	melanoma		ISO	RGD:1348913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562501	Lamtor2	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562501	Lamtor2	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	gene	DOID:9003777	Immunodeficiency due to Defect in MAPBP-Interacting Protein		ISO	RGD:1606308	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562501	Lamtor2	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	gene	DOID:9003777	Immunodeficiency due to Defect in MAPBP-Interacting Protein		ISO	RGD:1606308	D	RGD:7240710	20130724	OMIM			
1562501	Lamtor2	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	gene	DOID:9003777	Immunodeficiency due to Defect in MAPBP-Interacting Protein		ISO	RGD:1606308	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN | ClinVar Annotator: match by term: LAMTOR2-related condition | ClinVar Annotator: match by term: Primary immunodeficiency syndrome due to p14 deficiency	PMID:17195838|PMID:25741868|PMID:28492532
1562501	Lamtor2	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562502	Pbdc1	polysaccharide biosynthesis domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562502	Pbdc1	polysaccharide biosynthesis domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562502	Pbdc1	polysaccharide biosynthesis domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1344013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562502	Pbdc1	polysaccharide biosynthesis domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344013	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562502	Pbdc1	polysaccharide biosynthesis domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562502	Pbdc1	polysaccharide biosynthesis domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562502	Pbdc1	polysaccharide biosynthesis domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562504	Tceal3	transcription elongation factor A like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562504	Tceal3	transcription elongation factor A like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562504	Tceal3	transcription elongation factor A like 3	gene	DOID:1115	sarcoma		ISO	RGD:1346044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562504	Tceal3	transcription elongation factor A like 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1346044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1562504	Tceal3	transcription elongation factor A like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1346044	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562504	Tceal3	transcription elongation factor A like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562504	Tceal3	transcription elongation factor A like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562505	Wdr25	WD repeat domain 25	gene	DOID:10534	stomach cancer		ISO	RGD:1606781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562505	Wdr25	WD repeat domain 25	gene	DOID:1115	sarcoma		ISO	RGD:1606781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562505	Wdr25	WD repeat domain 25	gene	DOID:1324	lung cancer		ISO	RGD:1606781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562505	Wdr25	WD repeat domain 25	gene	DOID:1909	melanoma		ISO	RGD:1606781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562505	Wdr25	WD repeat domain 25	gene	DOID:2843	long QT syndrome		ISO	RGD:1606781	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1562505	Wdr25	WD repeat domain 25	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562505	Wdr25	WD repeat domain 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562505	Wdr25	WD repeat domain 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562505	Wdr25	WD repeat domain 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562511	Kif17	kinesin family member 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562511	Kif17	kinesin family member 17	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344438	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1562511	Kif17	kinesin family member 17	gene	DOID:10534	stomach cancer		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562511	Kif17	kinesin family member 17	gene	DOID:1115	sarcoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562511	Kif17	kinesin family member 17	gene	DOID:1324	lung cancer		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562511	Kif17	kinesin family member 17	gene	DOID:3275	thymoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562511	Kif17	kinesin family member 17	gene	DOID:4362	cervical cancer		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562511	Kif17	kinesin family member 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1344438	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562511	Kif17	kinesin family member 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562511	Kif17	kinesin family member 17	gene	DOID:6039	uveal melanoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1562511	Kif17	kinesin family member 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562511	Kif17	kinesin family member 17	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562511	Kif17	kinesin family member 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562511	Kif17	kinesin family member 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562511	Kif17	kinesin family member 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562513	Clec9a	C-type lectin domain containing 9A	gene	DOID:1324	lung cancer		ISO	RGD:1343177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562513	Clec9a	C-type lectin domain containing 9A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562513	Clec9a	C-type lectin domain containing 9A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562513	Clec9a	C-type lectin domain containing 9A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562523	Tmie	transmembrane inner ear	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1343102	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness	PMID:30311386|PMID:40377830
1562523	Tmie	transmembrane inner ear	gene	DOID:0110512	autosomal recessive nonsyndromic deafness 6		ISO	RGD:1343102	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562523	Tmie	transmembrane inner ear	gene	DOID:0110512	autosomal recessive nonsyndromic deafness 6		ISO	RGD:1343102	D	RGD:7240710	20130221	OMIM			
1562523	Tmie	transmembrane inner ear	gene	DOID:0110512	autosomal recessive nonsyndromic deafness 6		ISO	RGD:1343102	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6 | ClinVar Annotator: match by term: TMIE-related condition	PMID:12145746|PMID:16389551|PMID:19438934|PMID:24033266|PMID:24416283|PMID:24875298|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:35710363|PMID:8593615
1562523	Tmie	transmembrane inner ear	gene	DOID:0110512	autosomal recessive nonsyndromic deafness 6		ISO	RGD:1343102	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6 | ClinVar Annotator: match by term: TMIE-related condition	PMID:16389551|PMID:19438934|PMID:24033266|PMID:24416283|PMID:24875298|PMID:25741868|PMID:28492532|PMID:30311386
1562523	Tmie	transmembrane inner ear	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1343102	D	RGD:1599441|PMID:12145746	20070205	RGD		DFNB6, OMIM:600971	
1562523	Tmie	transmembrane inner ear	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1343102	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:16389551|PMID:24416283|PMID:25741868|PMID:28492532|PMID:30311386|PMID:40377830
1562523	Tmie	transmembrane inner ear	gene	DOID:12849	autistic disorder		ISO	RGD:1343102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:16389551|PMID:24416283|PMID:25741868|PMID:28492532
1562523	Tmie	transmembrane inner ear	gene	DOID:4362	cervical cancer		ISO	RGD:1343102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562523	Tmie	transmembrane inner ear	gene	DOID:630	genetic disease		ISO	RGD:1343102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:28492532
1562523	Tmie	transmembrane inner ear	gene	DOID:9004538	Hearing Loss		ISO	RGD:1343102	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:12145746|PMID:19438934|PMID:25741868|PMID:30303587|PMID:30311386|PMID:8593615
1562523	Tmie	transmembrane inner ear	gene	DOID:9004538	Hearing Loss		ISO	RGD:1343102	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:30311386|PMID:35710363|PMID:40377830
1562526	Fam171b	family with sequence similarity 171, member B	gene	DOID:1115	sarcoma		ISO	RGD:1354368	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562526	Fam171b	family with sequence similarity 171, member B	gene	DOID:1324	lung cancer		ISO	RGD:1354368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562526	Fam171b	family with sequence similarity 171, member B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562526	Fam171b	family with sequence similarity 171, member B	gene	DOID:3070	high grade glioma		ISO	RGD:1354368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562526	Fam171b	family with sequence similarity 171, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354368	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562526	Fam171b	family with sequence similarity 171, member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562526	Fam171b	family with sequence similarity 171, member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562527	Tmem196	transmembrane protein 196	gene	DOID:5041	esophageal cancer		ISO	RGD:1606932	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0014667	disease of metabolism		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic disease	
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:19466474|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27904835|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0060197	amyotrophic lateral sclerosis type 5		ISO	RGD:1347040	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0060197	amyotrophic lateral sclerosis type 5		ISO	RGD:1347040	D	RGD:7240710	20151014	OMIM			
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0060197	amyotrophic lateral sclerosis type 5		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5	PMID:16199547|PMID:17322883|PMID:18067136|PMID:18079167|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18717728|PMID:18835492|PMID:19105190|PMID:19194956|PMID:19196735|PMID:20110243|PMID:20301389|PMID:20571989|PMID:21035867|PMID:21625935|PMID:22154821|PMID:22237444|PMID:22696581|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24315199|PMID:24451228|PMID:24794856|PMID:24833714|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27084228|PMID:27217339|PMID:27790088|PMID:28492532|PMID:28554332|PMID:28991695|PMID:29246610|PMID:29691679|PMID:29908077|PMID:29934652|PMID:30363882|PMID:30476097|PMID:30564185|PMID:30574063|PMID:31407473|PMID:31589614|PMID:31900114|PMID:32019516|PMID:32397312|PMID:32483926|PMID:32579787|PMID:32671691|PMID:32709422|PMID:32987860|PMID:33059505|PMID:33098801|PMID:33589474|PMID:33600046|PMID:33624863|PMID:34153142|PMID:34906502|PMID:34944995|PMID:35254204|PMID:35617747|PMID:35906604|PMID:36139378|PMID:37223130|PMID:37712079
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0060898	Parkinson's disease 20		ISO	RGD:1347040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Early-onset Parkinson disease 20	PMID:19105190|PMID:20110243|PMID:22154821|PMID:23733235|PMID:25741868|PMID:26556829|PMID:28492532|PMID:31589614|PMID:33059505
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0080855	Parkinsonism		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110176	Charcot-Marie-Tooth disease axonal type 2X		ISO	RGD:1347040	D	RGD:7240710	20160113	OMIM			
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110176	Charcot-Marie-Tooth disease axonal type 2X		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X | ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2x	PMID:16199547|PMID:17322883|PMID:18067136|PMID:18079167|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18717728|PMID:18835492|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19513778|PMID:20110243|PMID:20301389|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21625935|PMID:22154821|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23121729|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24794856|PMID:24833714|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27016404|PMID:27071356|PMID:27084228|PMID:27217339|PMID:27544499|PMID:27790088|PMID:28119845|PMID:28492532|PMID:28554332|PMID:28991695|PMID:29246610|PMID:29691679|PMID:29908077|PMID:29934652|PMID:30476097|PMID:30564185|PMID:30574063|PMID:31281085|PMID:31407473|PMID:31589614|PMID:31900114|PMID:32019516|PMID:32383541|PMID:32397312|PMID:32709422|PMID:32987860|PMID:33059505|PMID:33098801|PMID:33581793|PMID:33589474|PMID:33600046|PMID:33624863|PMID:34906502|PMID:34944995|PMID:35254204|PMID:35906604|PMID:36139378|PMID:37223130|PMID:37712079
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:7240710	20130221	OMIM			
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23443022|PMID:23733235|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31589614|PMID:31692161|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32860008|PMID:32989326|PMID:34906502|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26742954|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31227335|PMID:31289639|PMID:31407473|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32638105|PMID:32860008|PMID:32989326|PMID:33084218|PMID:33144682|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:34906502|PMID:35047667|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia,  mental retardation and thin corpus callosum	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia,  mental retardation and thin corpus callosum	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:36139378|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia,  mental retardation and thin corpus callosum	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32397312|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:35254204|PMID:36028943|PMID:36139378|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32397312|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:35254204|PMID:35326432|PMID:36028943|PMID:36139378|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia,  mental retardation and thin corpus callosum	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:20971220|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:22700954|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28132690|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28933964|PMID:28991695|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29482223|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29970488|PMID:29980238|PMID:30081747|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007496|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32293029|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:3283541|PMID:32860008|PMID:32961396|PMID:32987860|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33397523|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:33638609|PMID:33669240|PMID:33866115|PMID:34153142|PMID:34284285|PMID:34782662|PMID:34906502|PMID:35047667|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:35572931|PMID:35752680|PMID:35896380|PMID:35906604|PMID:36028943|PMID:36139378|PMID:37223130|PMID:37712079|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM | ClinVar Annotator: match by term: Spastic paraplegia,  mental retardation and thin corpus callosum	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:20971220|PMID:21035867|PMID:21270786|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:22700954|PMID:22749184|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:27981572|PMID:28119845|PMID:28130640|PMID:28132690|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28933964|PMID:28991695|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29970488|PMID:29980238|PMID:30081747|PMID:30212743|PMID:30363882|PMID:30367527|PMID:30373780|PMID:30564185|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007496|PMID:32007754|PMID:32019516|PMID:32166880|PMID:32293029|PMID:32371905|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:3283541|PMID:32860008|PMID:32961396|PMID:32987860|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33397523|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:33638609|PMID:33669240|PMID:34153142|PMID:34284285|PMID:34445196|PMID:34782662|PMID:34906502|PMID:35012964|PMID:35047667|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:35499206|PMID:35628876|PMID:35752680|PMID:35896380|PMID:35906604|PMID:36028943|PMID:36139378|PMID:36432490|PMID:37223130|PMID:37712079|PMID:38539105|PMID:39044379|PMID:39825153|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM | ClinVar Annotator: match by term: Spastic paraplegia,  mental retardation and thin corpus callosum	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:20971220|PMID:21035867|PMID:21270786|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:22700954|PMID:22749184|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:27981572|PMID:28119845|PMID:28130640|PMID:28132690|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28933964|PMID:28991695|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29482223|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29970488|PMID:29980238|PMID:30081747|PMID:30212743|PMID:30363882|PMID:30367527|PMID:30373780|PMID:30564185|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007496|PMID:32007754|PMID:32019516|PMID:32166880|PMID:32214227|PMID:32293029|PMID:32371905|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:3283541|PMID:32860008|PMID:32961396|PMID:32987860|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33397523|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:33638609|PMID:33669240|PMID:33866115|PMID:34153142|PMID:34284285|PMID:34445196|PMID:34782662|PMID:34906502|PMID:35012964|PMID:35047667|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:35499206|PMID:35572931|PMID:35628876|PMID:35752680|PMID:35896380|PMID:35906604|PMID:36028943|PMID:36139378|PMID:36432490|PMID:37223130|PMID:37712079|PMID:38539105|PMID:39044379|PMID:39825153|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia,  mental retardation and thin corpus callosum	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:20971220|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:22700954|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23881933|PMID:24033266|PMID:24451228|PMID:24731568|PMID:24794856|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26742954|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27544499|PMID:27790088|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28933964|PMID:28991695|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29482223|PMID:29691679|PMID:29732542|PMID:29895855|PMID:29908077|PMID:29934652|PMID:29946510|PMID:29970488|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30367527|PMID:30373780|PMID:30476097|PMID:30564185|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32007496|PMID:32007754|PMID:32019516|PMID:32166880|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32638105|PMID:32709422|PMID:32729724|PMID:32961396|PMID:32987860|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33397523|PMID:33408077|PMID:33414559|PMID:33430805|PMID:33528536|PMID:33581793|PMID:33589474|PMID:33600046|PMID:33624863|PMID:33638609|PMID:34153142|PMID:34284285|PMID:34740920|PMID:34782662|PMID:34906502|PMID:34944995|PMID:35012964|PMID:35254204|PMID:35326432|PMID:35464835|PMID:35499206|PMID:35628876|PMID:35896380|PMID:35906604|PMID:36139378|PMID:36432490|PMID:36923789|PMID:37223130|PMID:37712079|PMID:37952009|PMID:38539105|PMID:38544359|PMID:38850078|PMID:42120987|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISS	RGD:1557291	D	RGD:13592920	20230718	MouseDO		OMIM:604360	
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:0111428	essential tremor 1		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:19194956|PMID:20301389|PMID:25741868
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:10534	stomach cancer		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:19466474|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27904835|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:10579	leukodystrophy		ISO	RGD:1347040	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22696581|PMID:25299611|PMID:25741868|PMID:26556829|PMID:27217339|PMID:28492532|PMID:28554332|PMID:29246610|PMID:33581793|PMID:35254204
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:1059	intellectual disability		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:18067136|PMID:18717728|PMID:19105190|PMID:19194956|PMID:20110243|PMID:20301389|PMID:22154821|PMID:24794856|PMID:25741868|PMID:26556829|PMID:27217339|PMID:28492532|PMID:30476097|PMID:30574063|PMID:35906604
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1347040	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:1115	sarcoma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:11162	respiratory failure		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:26467025|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:11830	myopia		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:11836	clubfoot		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:19105190|PMID:20110243|PMID:22154821|PMID:26556829|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:12176	goiter		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:12849	autistic disorder		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:1389	polyneuropathy		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor polyneuropathy | ClinVar Annotator: match by term: Polyneuropathy	PMID:17322883|PMID:18408091|PMID:19105190|PMID:19196735|PMID:20110243|PMID:20301389|PMID:22154821|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24451228|PMID:24833714|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26556829|PMID:28492532|PMID:29691679|PMID:30564185|PMID:31900114|PMID:33624863
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:1596	depressive disorder		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:19105190|PMID:20110243|PMID:20301389|PMID:20390432|PMID:22154821|PMID:25741868|PMID:26556829|PMID:27217339|PMID:27544499|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:1826	epilepsy		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:1909	melanoma		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:19466474|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27904835|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347040	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24833714|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:31289639|PMID:31407473|PMID:32166880|PMID:32409511|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24833714|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30609409|PMID:31289639|PMID:31407473|PMID:32166880|PMID:32409511|PMID:32579787|PMID:32671691|PMID:33589474|PMID:33624863|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347040	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Complex hereditary spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:20301389|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23121729|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:26755014|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30081747|PMID:30212743|PMID:30778698|PMID:31289639|PMID:31407473|PMID:32005694|PMID:32166880|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32579787|PMID:32671691|PMID:33059505|PMID:33098801|PMID:33589474|PMID:33624863|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:36028943|PMID:36139378|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347040	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20390432|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23121729|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:26755014|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30081747|PMID:30212743|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31589614|PMID:32005694|PMID:32166880|PMID:32293029|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32579787|PMID:32671691|PMID:32987860|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33589474|PMID:33624863|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:36028943|PMID:36139378|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20390432|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23121729|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:26755014|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30081747|PMID:30212743|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31589614|PMID:32005694|PMID:32166880|PMID:32293029|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32579787|PMID:32671691|PMID:32987860|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33589474|PMID:33624863|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:35906604|PMID:36028943|PMID:36139378|PMID:36432490|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:16199547|PMID:17322883|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:20110243|PMID:20301389|PMID:21035867|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23121729|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27071356|PMID:27217339|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:28933964|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29980238|PMID:30081747|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31589614|PMID:32005694|PMID:32019516|PMID:32166880|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:33059505|PMID:33098801|PMID:33589474|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:36139378|PMID:39825153
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:16199547|PMID:18067136|PMID:18079167|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19466474|PMID:20110243|PMID:20301389|PMID:21035867|PMID:21625935|PMID:22154821|PMID:22237444|PMID:22246010|PMID:23121729|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27790088|PMID:27900367|PMID:27904835|PMID:28492532|PMID:28832565|PMID:28933964|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29934652|PMID:29946510|PMID:30081747|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31589614|PMID:32005694|PMID:32019516|PMID:32166880|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32709422|PMID:33059505|PMID:33098801|PMID:33589474|PMID:33600046|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:36139378|PMID:38850078
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:2841	asthma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:26467025|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:3275	thymoma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:3312	bipolar disorder		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:19194956|PMID:20301389|PMID:25741868
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease	PMID:18337587|PMID:19466474|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:27904835|PMID:28492532|PMID:29946510|PMID:31407473|PMID:32483926|PMID:33098801|PMID:35254204|PMID:36139378
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:4362	cervical cancer		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:19466474|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27904835|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:480	movement disease		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20390432|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27016404|PMID:27217339|PMID:27544499|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:5041	esophageal cancer		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:19466474|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27904835|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:5419	schizophrenia		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:19194956|PMID:20301389|PMID:25741868
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:543	dystonia		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:19466474|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27904835|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:607	paraplegia		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:19105190|PMID:20110243|PMID:20301389|PMID:21381113|PMID:22154821|PMID:23043354|PMID:23733235|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:630	genetic disease		ISO	RGD:1347040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19917823|PMID:20110243|PMID:20301389|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24090761|PMID:24482476|PMID:24833714|PMID:25174650|PMID:25588603|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27318863|PMID:27457812|PMID:28160950|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30564185|PMID:31227335|PMID:31289639|PMID:31900114|PMID:32166880|PMID:32214227|PMID:32409511|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:35047667|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:630	genetic disease		ISO	RGD:1347040	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20571989|PMID:21270786|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:22749184|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24090761|PMID:24482476|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25588603|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27318863|PMID:27790088|PMID:27900367|PMID:27981572|PMID:28132690|PMID:28160950|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30564185|PMID:30574063|PMID:30778698|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31900114|PMID:32005694|PMID:32166880|PMID:32214227|PMID:32293029|PMID:32371905|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32729724|PMID:32987860|PMID:33098801|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:33866115|PMID:34445196|PMID:35047667|PMID:35254204|PMID:35572931|PMID:35896380|PMID:35906604|PMID:36028943|PMID:36139378|PMID:37223130|PMID:38539105|PMID:39044379|PMID:39825153|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:630	genetic disease		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18414213|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20571989|PMID:21270786|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:24833714|PMID:25174650|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27071356|PMID:27217339|PMID:27790088|PMID:27981572|PMID:28492532|PMID:28832565|PMID:29908077|PMID:29946510|PMID:29980238|PMID:30564185|PMID:30574063|PMID:31281085|PMID:31289639|PMID:31407473|PMID:31900114|PMID:32166880|PMID:32383541|PMID:32409511|PMID:32483926|PMID:32729724|PMID:32987860|PMID:33098801|PMID:33589474|PMID:33624863|PMID:34944995|PMID:35254204|PMID:36139378|PMID:37223130|PMID:38539105|PMID:39044379|PMID:39825153|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:630	genetic disease		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17322883|PMID:17576681|PMID:18079167|PMID:18337587|PMID:18414213|PMID:18717728|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:20110243|PMID:20301389|PMID:20571989|PMID:21381113|PMID:22154821|PMID:22246010|PMID:23043354|PMID:23443022|PMID:23733235|PMID:24833714|PMID:25174650|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27066562|PMID:27217339|PMID:27790088|PMID:28492532|PMID:29908077|PMID:30564185|PMID:30574063|PMID:31281085|PMID:31407473|PMID:31900114|PMID:32166880|PMID:32383541|PMID:32409511|PMID:32483926|PMID:32729724|PMID:32987860|PMID:33098801|PMID:33408077|PMID:33589474|PMID:33624863|PMID:34944995|PMID:35254204|PMID:36139378|PMID:37223130|PMID:38539105|PMID:9536098
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:19466474|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27904835|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:7319	axonal neuropathy		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:17322883|PMID:19105190|PMID:19196735|PMID:20110243|PMID:20301389|PMID:22154821|PMID:23443022|PMID:24833714|PMID:25741868|PMID:26556829|PMID:28492532|PMID:30564185|PMID:31900114|PMID:33624863
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:7998	hyperthyroidism		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26467025|PMID:26556829|PMID:27016404|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:870	neuropathy		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:18067136|PMID:18717728|PMID:19105190|PMID:20110243|PMID:20301389|PMID:22154821|PMID:24794856|PMID:25741868|PMID:26556829|PMID:27217339|PMID:28492532|PMID:30476097|PMID:30574063|PMID:35906604
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:8927	learning disability		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9000276	Juvenile Amyotrophic Lateral Sclerosis		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis	PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9000348	Confusion		ISO	RGD:1347040	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Confusion	PMID:19105190|PMID:20110243|PMID:22154821|PMID:25299611|PMID:25741868|PMID:26556829|PMID:28492532|PMID:28554332|PMID:29246610
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9000495	Tremor		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Action tremor	
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9001722	Dysarthria		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20390432|PMID:21625935|PMID:22154821|PMID:25741868|PMID:26556829|PMID:27217339|PMID:27544499|PMID:28492532|PMID:29691679|PMID:29934652|PMID:32709422|PMID:33600046
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9001733	Tinnitus		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27016404|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22696581|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Progressive spastic paraparesis | ClinVar Annotator: match by term: Spastic paraparesis	PMID:18079167|PMID:19105190|PMID:19194956|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22696581|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:19105190|PMID:19194956|PMID:20110243|PMID:20301389|PMID:22154821|PMID:25299611|PMID:25741868|PMID:26556829|PMID:27217339|PMID:28492532|PMID:28554332|PMID:29246610|PMID:33581793|PMID:35254204
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9003507	Premature Birth		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9003539	Hyperacusis		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9004866	Ataxia		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:21625935|PMID:22154821|PMID:25741868|PMID:26556829|PMID:28492532|PMID:29691679|PMID:29934652|PMID:32709422|PMID:33600046
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9005968	Neuralgia		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuropathic pain	PMID:17322883|PMID:19105190|PMID:19196735|PMID:20110243|PMID:20301389|PMID:22154821|PMID:23443022|PMID:24833714|PMID:25741868|PMID:26556829|PMID:28492532|PMID:30564185|PMID:31900114|PMID:33624863
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22696581|PMID:25741868|PMID:26556829|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26467025|PMID:26556829|PMID:27016404|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9006743	Spasm		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:19194956|PMID:20301389|PMID:25741868
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:19466474|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27904835|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:19105190|PMID:20110243|PMID:20301389|PMID:20390432|PMID:22154821|PMID:25741868|PMID:26556829|PMID:27217339|PMID:27544499|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:23443022|PMID:25741868|PMID:26556829|PMID:27016404|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:19105190|PMID:19194956|PMID:20110243|PMID:20301389|PMID:20390432|PMID:22154821|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:27217339|PMID:27544499|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9007573	Flatfoot		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:19105190|PMID:20110243|PMID:20301389|PMID:20390432|PMID:22154821|PMID:25741868|PMID:26556829|PMID:27217339|PMID:27544499|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9007736	Vertigo		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9008023	Memory Disorders		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19105190|PMID:20110243|PMID:22154821|PMID:25741868|PMID:26556829|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:19466474|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27904835|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:93	language disorder		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22696581|PMID:25741868|PMID:26556829|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1347040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:18079167|PMID:19105190|PMID:20110243|PMID:20301389|PMID:21625935|PMID:22154821|PMID:25741868|PMID:26556829|PMID:28492532|PMID:29691679|PMID:29934652|PMID:32709422|PMID:33600046
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9834	hyperopia		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:26467025|PMID:28492532
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9970	obesity		ISO	RGD:1347040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition	PMID:19194956|PMID:20301389|PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378|PMID:39825153
1562529	Spg11	SPG11 vesicle trafficking associated, spatacsin	gene	DOID:9970	obesity		ISO	RGD:1347040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:19194956|PMID:20301389|PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:28492532|PMID:31407473|PMID:33098801|PMID:35254204|PMID:36139378
1562530	Cdk5r2	cyclin-dependent kinase 5 regulatory subunit 2	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1349470	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1353410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532|PMID:30322869
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1353410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:0050908	myelodysplastic syndrome		ISS	RGD:1557974	D	RGD:13592920	20220915	MouseDO		OMIM:614286	
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:0110601	primary ciliary dyskinesia 12		ISO	RGD:1353410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia 12	PMID:25741868|PMID:38649131
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:10534	stomach cancer		ISO	RGD:1353410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:1059	intellectual disability		ISO	RGD:1353410	D	RGD:8554872	20211228	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:10907	microcephaly		ISO	RGD:1353410	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:1143	exotropia		ISO	RGD:1353410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:1596	depressive disorder		ISO	RGD:1353410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532|PMID:30322869
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:1909	melanoma		ISO	RGD:1353410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:2030	anxiety disorder		ISO	RGD:1353410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532|PMID:30322869
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:2841	asthma		ISO	RGD:1353410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532|PMID:30322869
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:535	sleep disorder		ISO	RGD:1353410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:607	paraplegia		ISO	RGD:1353410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:630	genetic disease		ISO	RGD:1353410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28570036|PMID:29146900|PMID:32810897|PMID:34621053|PMID:35310830
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9000053	Headache		ISO	RGD:1353410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9000617	Myelocerebellar Disorder		ISO	RGD:1353410	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9000617	Myelocerebellar Disorder		ISO	RGD:1353410	D	RGD:7240710	20211222	OMIM			
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9000617	Myelocerebellar Disorder		ISO	RGD:1353410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ATAXIA-PANCYTOPENIA SYNDROME | ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome	PMID:25741868|PMID:27259050|PMID:28202457|PMID:28492532|PMID:28570036|PMID:29146883|PMID:29146900|PMID:30046003|PMID:30211214|PMID:30322869|PMID:31053103|PMID:31692161|PMID:32810897|PMID:33365035|PMID:34621053|PMID:35310830
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9000646	Spinocerebellar Ataxia 49		ISO	RGD:1353410	D	RGD:7240710	20220427	OMIM			
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9000646	Spinocerebellar Ataxia 49		ISO	RGD:1353410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia 49	PMID:25741868|PMID:28492532|PMID:30211214|PMID:31053103|PMID:32810897|PMID:33365035|PMID:34621053
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9004866	Ataxia		ISO	RGD:1353410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9005077	Joint Instability		ISO	RGD:1353410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1353410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532|PMID:30211214|PMID:34621053
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9007085	Monosomy 7 Myelodysplasia and Leukemia Syndrome 1		ISO	RGD:1353410	D	RGD:7240710	20211222	OMIM			
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9007085	Monosomy 7 Myelodysplasia and Leukemia Syndrome 1		ISO	RGD:1353410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 1 | ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 | ClinVar Annotator: match by term: Monosomy 7 of bone marrow	PMID:25741868|PMID:27259050|PMID:28492532|PMID:29146900|PMID:30046003|PMID:30211214|PMID:31053103|PMID:32810897|PMID:33365035|PMID:34621053|PMID:35310830
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1353410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9008385	Vomiting		ISO	RGD:1353410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830
1562531	Samd9l	sterile alpha motif domain containing 9 like	gene	DOID:9970	obesity		ISO	RGD:1353410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532|PMID:30322869
1562532	C5h1orf141	similar to human chromosome 1 open reading frame 141	gene	DOID:4362	cervical cancer		ISO	RGD:1606070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562532	C5h1orf141	similar to human chromosome 1 open reading frame 141	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562532	C5h1orf141	similar to human chromosome 1 open reading frame 141	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606070	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562533	Mtus2	microtubule associated scaffold protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1346037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562533	Mtus2	microtubule associated scaffold protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1346037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562533	Mtus2	microtubule associated scaffold protein 2	gene	DOID:1909	melanoma		ISO	RGD:1346037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562533	Mtus2	microtubule associated scaffold protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346037	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562533	Mtus2	microtubule associated scaffold protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562533	Mtus2	microtubule associated scaffold protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562533	Mtus2	microtubule associated scaffold protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1354287	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:10534	stomach cancer		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:1059	intellectual disability		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:1115	sarcoma		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1354287	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:1324	lung cancer		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:5041	esophageal cancer		ISO	RGD:1354287	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:6039	uveal melanoma		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354287	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:9003566	Mesothelioma		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354287	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorders	PMID:31256877
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354287	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorders	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1354287	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562539	Ddx54	DEAD-box helicase 54	gene	DOID:9256	colorectal cancer		ISO	RGD:1354287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562550	Tmem267	transmembrane protein 267	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:0111457	STING-associated vasculopathy with onset in infancy		ISO	RGD:1602274	D	RGD:7240710	20170419	OMIM			
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:0111457	STING-associated vasculopathy with onset in infancy		ISO	RGD:1602274	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET | ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy | ClinVar Annotator: match by term: STING-associated vasculopathy, infantile-onset | ClinVar Annotator: match by term: Sting-associated vasculopathy, infantile-onset	PMID:16199547|PMID:17576681|PMID:21248775|PMID:24033266|PMID:24204993|PMID:25029335|PMID:25401470|PMID:25741868|PMID:25790474|PMID:27927967|PMID:27943079|PMID:28041677|PMID:28087229|PMID:28492532|PMID:28968819|PMID:29367762|PMID:29694889|PMID:30038614|PMID:30463976|PMID:30783801|PMID:30794020|PMID:30919572|PMID:31144250|PMID:31866997|PMID:32673614|PMID:33014937|PMID:33154747|PMID:33162473|PMID:33217613|PMID:33230617|PMID:33488593|PMID:33569478|PMID:33833757|PMID:35086391|PMID:35482138|PMID:35928815|PMID:36275728|PMID:38046254|PMID:38178067|PMID:9536098
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:0111457	STING-associated vasculopathy with onset in infancy		ISS	RGD:1615847	D	RGD:13592920	20230718	MouseDO		OMIM:615934	
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:11077	brucellosis		ISO	RGD:1615847	D	RGD:39128199|PMID:29203515	20200925	RGD			
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:11077	brucellosis		ISO	RGD:1615847	D	RGD:39128234|PMID:30894428	20200927	RGD			
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:11573	listeriosis		ISO	RGD:1615847	D	RGD:39128219|PMID:23378430	20200926	RGD			
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:11573	listeriosis		ISO	RGD:1615847	D	RGD:39128233|PMID:21098106	20200927	RGD			
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:1395	schistosomiasis		ISO	RGD:1615847	D	RGD:39128195|PMID:32404867	20200924	RGD			
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:1602	lymphadenitis	disease_progression	ISO	RGD:1615847	D	RGD:39128217|PMID:27511736	20200925	RGD		associated with herpes simplex	
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:2043	hepatitis B		ISO	RGD:1615847	D	RGD:39128205|PMID:27312012	20200925	RGD			
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:2365	West Nile encephalitis	severity	ISO	RGD:1615847	D	RGD:39128224|PMID:31415679	20200927	RGD			
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1602274	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:25741868|PMID:28166811|PMID:28492532
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1602274	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:17576681|PMID:21248775|PMID:24204993|PMID:25741868|PMID:27927967|PMID:28087229|PMID:28492532|PMID:30919572|PMID:32673614|PMID:33488593|PMID:35086391|PMID:35482138|PMID:36275728|PMID:38046254|PMID:9536098
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1615847	D	RGD:39128228|PMID:29421524	20200927	RGD		associated with Haemophilus Infections;mRNA, protein:increased expression:lung (mouse)	
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1602274	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:25129146
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:399	tuberculosis		ISO	RGD:1615847	D	RGD:39128196|PMID:29791904	20200925	RGD			
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1602274	D	RGD:39128218|PMID:24367701	20200926	RGD		mRNA:increased expression:multiple tissues (human)	
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:630	genetic disease		ISO	RGD:1602274	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:35086391|PMID:35482138
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:850	lung disease		ISO	RGD:1602274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868|PMID:28087229|PMID:28492532|PMID:30919572|PMID:32673614|PMID:33488593|PMID:36275728
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:9000109	Haemophilus Infections		ISO	RGD:1615847	D	RGD:39128228|PMID:29421524	20200927	RGD		mRNA,protein:increased expression:lung (mouse)	
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1602274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28087229|PMID:28492532|PMID:30919572|PMID:32673614|PMID:33488593|PMID:36275728
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:9002087	Silicotuberculosis	severity	ISO	RGD:1615847	D	RGD:39128194|PMID:31141689	20200924	RGD			
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:1615847	D	RGD:39128230|PMID:29263110	20200927	RGD			
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:9005106	Animal Toxoplasmosis	severity	ISO	RGD:1615847	D	RGD:39128220|PMID:31416833	20200926	RGD			
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1602274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28087229|PMID:28492532|PMID:30919572|PMID:32673614|PMID:33488593|PMID:36275728
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:9005881	Chilblain Lupus 1		ISO	RGD:1602274	D	RGD:11554173	20161213	CTD		CTD Direct Evidence: marker/mechanism	PMID:27566796
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:1615847	D	RGD:39128225|PMID:31249303	20200927	RGD			
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1602274	D	RGD:11554173	20230516	CTD		CTD Direct Evidence: therapeutic	PMID:36520315
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28087229|PMID:28492532|PMID:30919572|PMID:32673614|PMID:33488593|PMID:36275728
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:9008163	Chronic Hepatitis B	susceptibility	ISO	RGD:1602274	D	RGD:39128221|PMID:30593207	20200927	RGD		DNA:hypermethylation:promoter	
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:9008811	Tachypnea		ISO	RGD:1602274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868|PMID:28087229|PMID:28492532|PMID:30919572|PMID:32673614|PMID:33488593|PMID:36275728
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1562552	Sting1	stimulator of interferon response cGAMP interactor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1562557	Zfp839	zinc finger protein 839	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562557	Zfp839	zinc finger protein 839	gene	DOID:1115	sarcoma		ISO	RGD:1343787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562557	Zfp839	zinc finger protein 839	gene	DOID:4362	cervical cancer		ISO	RGD:1343787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562557	Zfp839	zinc finger protein 839	gene	DOID:5041	esophageal cancer		ISO	RGD:1343787	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562557	Zfp839	zinc finger protein 839	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562557	Zfp839	zinc finger protein 839	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562557	Zfp839	zinc finger protein 839	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562559	Arhgef26	Rho guanine nucleotide exchange factor 26	gene	DOID:10534	stomach cancer		ISO	RGD:1603402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562559	Arhgef26	Rho guanine nucleotide exchange factor 26	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562559	Arhgef26	Rho guanine nucleotide exchange factor 26	gene	DOID:1909	melanoma		ISO	RGD:1603402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562559	Arhgef26	Rho guanine nucleotide exchange factor 26	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562559	Arhgef26	Rho guanine nucleotide exchange factor 26	gene	DOID:3070	high grade glioma		ISO	RGD:1603402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562559	Arhgef26	Rho guanine nucleotide exchange factor 26	gene	DOID:3275	thymoma		ISO	RGD:1603402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562559	Arhgef26	Rho guanine nucleotide exchange factor 26	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562559	Arhgef26	Rho guanine nucleotide exchange factor 26	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562559	Arhgef26	Rho guanine nucleotide exchange factor 26	gene	DOID:5041	esophageal cancer		ISO	RGD:1603402	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562559	Arhgef26	Rho guanine nucleotide exchange factor 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562559	Arhgef26	Rho guanine nucleotide exchange factor 26	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562559	Arhgef26	Rho guanine nucleotide exchange factor 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562559	Arhgef26	Rho guanine nucleotide exchange factor 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562560	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562560	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:0111614	autosomal recessive spinocerebellar ataxia 22		ISO	RGD:1603168	D	RGD:7240710	20190315	OMIM			
1562560	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:0111614	autosomal recessive spinocerebellar ataxia 22		ISO	RGD:1603168	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 | ClinVar Annotator: match by term: VWA3B-related condition	PMID:25741868|PMID:28492532
1562560	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:1909	melanoma		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562560	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:3070	high grade glioma		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562560	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:3275	thymoma		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562560	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:4362	cervical cancer		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562560	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562560	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603168	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562560	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1603168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562560	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562560	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1603168	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1562560	Vwa3b	von Willebrand factor A domain containing 3B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562562	Tmem117	transmembrane protein 117	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562562	Tmem117	transmembrane protein 117	gene	DOID:13580	cholestasis		ISO	RGD:1604277	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1562562	Tmem117	transmembrane protein 117	gene	DOID:1909	melanoma		ISO	RGD:1604277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562562	Tmem117	transmembrane protein 117	gene	DOID:5041	esophageal cancer		ISO	RGD:1604277	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562562	Tmem117	transmembrane protein 117	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562562	Tmem117	transmembrane protein 117	gene	DOID:6039	uveal melanoma		ISO	RGD:1604277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1562562	Tmem117	transmembrane protein 117	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1604277	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1562563	Tra2a	transformer 2 alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562563	Tra2a	transformer 2 alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562563	Tra2a	transformer 2 alpha	gene	DOID:1115	sarcoma		ISO	RGD:1603645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562563	Tra2a	transformer 2 alpha	gene	DOID:1324	lung cancer		ISO	RGD:1603645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562563	Tra2a	transformer 2 alpha	gene	DOID:1909	melanoma		ISO	RGD:1603645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562563	Tra2a	transformer 2 alpha	gene	DOID:2394	ovarian cancer		ISO	RGD:1603645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1562563	Tra2a	transformer 2 alpha	gene	DOID:37	skin disease		ISO	RGD:1603645	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1562563	Tra2a	transformer 2 alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1603645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562563	Tra2a	transformer 2 alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562563	Tra2a	transformer 2 alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562563	Tra2a	transformer 2 alpha	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1562563	Tra2a	transformer 2 alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562563	Tra2a	transformer 2 alpha	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1603645	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1562563	Tra2a	transformer 2 alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562563	Tra2a	transformer 2 alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562566	Cenpu	centromere protein U	gene	DOID:0080600	COVID-19		ISO	RGD:1351502	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1562566	Cenpu	centromere protein U	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351502	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:0050795	cone dystrophy		ISO	RGD:1314604	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cone dystrophy	
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:0080181	PHARC syndrome		ISO	RGD:1314604	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:0080181	PHARC syndrome		ISO	RGD:1314604	D	RGD:7240710	20130221	OMIM			
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:0080181	PHARC syndrome		ISO	RGD:1314604	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABHD12-related condition | ClinVar Annotator: match by term: PHARC syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT	PMID:17576681|PMID:20797687|PMID:24697911|PMID:25741868|PMID:26257172|PMID:26467025|PMID:28492532|PMID:29571850|PMID:29625443|PMID:30311386|PMID:31690835|PMID:34085946|PMID:34573385|PMID:37803361|PMID:9536098
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:0080181	PHARC syndrome		ISS	RGD:1314605	D	RGD:13592920	20230718	MouseDO		OMIM:612674	
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:10534	stomach cancer		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:1115	sarcoma		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:1324	lung cancer		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:3275	thymoma		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314604	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:28492532|PMID:9536098
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:5723	optic atrophy		ISO	RGD:1314604	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:630	genetic disease		ISO	RGD:1314604	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:8501	fundus dystrophy		ISO	RGD:1314604	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:22938382|PMID:24027063|PMID:25741868|PMID:28492532
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:24027063|PMID:25741868|PMID:28492532|PMID:30311386
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562570	Abhd12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562571	Spmap2l	sperm microtubule associated protein 2 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:5688605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562572	Jaml	junction adhesion molecule like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562572	Jaml	junction adhesion molecule like	gene	DOID:10534	stomach cancer		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562572	Jaml	junction adhesion molecule like	gene	DOID:1115	sarcoma		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562572	Jaml	junction adhesion molecule like	gene	DOID:1324	lung cancer		ISO	RGD:1344740	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562572	Jaml	junction adhesion molecule like	gene	DOID:4362	cervical cancer		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562572	Jaml	junction adhesion molecule like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562572	Jaml	junction adhesion molecule like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344740	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562572	Jaml	junction adhesion molecule like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562572	Jaml	junction adhesion molecule like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562573	Zfp830	zinc finger protein 830	gene	DOID:0080600	COVID-19		ISO	RGD:1605313	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1562576	Ranbp17	RAN binding protein 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1562576	Ranbp17	RAN binding protein 17	gene	DOID:0070681	congenital hydrocephalus		ISO	RGD:1345238	D	RGD:8554872	20260505	ClinVar		ClinVar Annotator: match by term: Congenital hydrocephalus	PMID:29983323
1562576	Ranbp17	RAN binding protein 17	gene	DOID:10534	stomach cancer		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:1115	sarcoma		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:1324	lung cancer		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:1909	melanoma		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:2394	ovarian cancer		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:3275	thymoma		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:4362	cervical cancer		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1345238	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562576	Ranbp17	RAN binding protein 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562578	Spatc1l	spermatogenesis and centriole associated 1-like	gene	DOID:12365	malaria		ISO	RGD:1344058	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malaria, susceptibility to	
1562578	Spatc1l	spermatogenesis and centriole associated 1-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562578	Spatc1l	spermatogenesis and centriole associated 1-like	gene	DOID:3275	thymoma		ISO	RGD:1344058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562578	Spatc1l	spermatogenesis and centriole associated 1-like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562578	Spatc1l	spermatogenesis and centriole associated 1-like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562578	Spatc1l	spermatogenesis and centriole associated 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562578	Spatc1l	spermatogenesis and centriole associated 1-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562578	Spatc1l	spermatogenesis and centriole associated 1-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562578	Spatc1l	spermatogenesis and centriole associated 1-like	gene	DOID:9256	colorectal cancer		ISO	RGD:1344058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562579	Srrd	SRR1 domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562579	Srrd	SRR1 domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562579	Srrd	SRR1 domain containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562579	Srrd	SRR1 domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562579	Srrd	SRR1 domain containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562579	Srrd	SRR1 domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562579	Srrd	SRR1 domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562579	Srrd	SRR1 domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562580	Lpar5	lysophosphatidic acid receptor 5	gene	DOID:10534	stomach cancer		ISO	RGD:1348840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1605708	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:36724785
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1605708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1605708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1605708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:630	genetic disease		ISO	RGD:1605708	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:9007570	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES		ISO	RGD:1605708	D	RGD:7240710	20230830	OMIM			
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:9007570	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES		ISO	RGD:1605708	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and movement abnormalities	PMID:25741868|PMID:26539891|PMID:36724785
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562582	Tti1	TELO2 interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562583	Lonrf1	LON peptidase N-terminal domain and ring finger 1	gene	DOID:0060058	lymphoma		ISO	RGD:1605309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562583	Lonrf1	LON peptidase N-terminal domain and ring finger 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562583	Lonrf1	LON peptidase N-terminal domain and ring finger 1	gene	DOID:1115	sarcoma		ISO	RGD:1605309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562583	Lonrf1	LON peptidase N-terminal domain and ring finger 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605309	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562583	Lonrf1	LON peptidase N-terminal domain and ring finger 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562583	Lonrf1	LON peptidase N-terminal domain and ring finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562583	Lonrf1	LON peptidase N-terminal domain and ring finger 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562587	Wdr38	WD repeat domain 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1625454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562587	Wdr38	WD repeat domain 38	gene	DOID:10534	stomach cancer		ISO	RGD:1625454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562587	Wdr38	WD repeat domain 38	gene	DOID:1324	lung cancer		ISO	RGD:1625454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562587	Wdr38	WD repeat domain 38	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1625454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:0050453	lissencephaly		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:25741868
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:0080918	polymicrogyria		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604165	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1604165	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:9001031	Retrognathia		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1604165	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1604165	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1604165	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:9009244	Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome		ISO	RGD:1604165	D	RGD:7240710	20190315	OMIM			
1562594	Ctu2	cytosolic thiouridylase subunit 2	gene	DOID:9009244	Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome		ISO	RGD:1604165	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CTU2-related condition | ClinVar Annotator: match by term: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME | ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | ClinVar Annotator: match by term: microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	PMID:17576681|PMID:25081361|PMID:25741868|PMID:26633546|PMID:28492532|PMID:31301155|PMID:34356170|PMID:37644014|PMID:9536098
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:0051032	primary autosomal recessive microcephaly 21		ISO	RGD:1604840	D	RGD:7240710	20190315	OMIM			
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:0051032	primary autosomal recessive microcephaly 21		ISO	RGD:1604840	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive | ClinVar Annotator: match by term: NCAPD2-related condition | ClinVar Annotator: match by term: microcephaly 21, primary, autosomal recessive	PMID:25741868|PMID:28492532
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:10534	stomach cancer		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:1324	lung cancer		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:1909	melanoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:3275	thymoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:4362	cervical cancer		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:630	genetic disease		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562596	Ncapd2	non-SMC condensin I complex, subunit D2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1604634	D	RGD:11554173	20161206	CTD		CTD Direct Evidence: marker/mechanism	PMID:25401301
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604634	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562597	Pdxdc1	pyridoxal-dependent decarboxylase domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1604634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562602	Pml	PML nuclear body scaffold	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1345145	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
1562602	Pml	PML nuclear body scaffold	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1345145	D	RGD:11554173	20220308	CTD		CTD Direct Evidence: marker/mechanism	PMID:8616088|PMID:10742073|PMID:14706140|PMID:16788101|PMID:16835227|PMID:16891316|PMID:16935935|PMID:17294898|PMID:17649720|PMID:19029980|PMID:19035177|PMID:19884644|PMID:19887701|PMID:21345080|PMID:21613260|PMID:22213200|PMID:23208507|PMID:23734343|PMID:26285909|PMID:26728337|PMID:32882258|PMID:32929351
1562602	Pml	PML nuclear body scaffold	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1345145	D	RGD:41404695|PMID:9122233	20210203	RGD		human PML/RARA gene fusion in a mouse model	
1562602	Pml	PML nuclear body scaffold	gene	DOID:10591	pre-eclampsia		ISO	RGD:1345145	D	RGD:41404689|PMID:20228380	20210203	RGD		mRNA:decreased expression:placenta (human)	
1562602	Pml	PML nuclear body scaffold	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562602	Pml	PML nuclear body scaffold	gene	DOID:1115	sarcoma		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562602	Pml	PML nuclear body scaffold	gene	DOID:1324	lung cancer		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562602	Pml	PML nuclear body scaffold	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1557220	D	RGD:41404692|PMID:25486572	20210203	RGD			
1562602	Pml	PML nuclear body scaffold	gene	DOID:1909	melanoma		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562602	Pml	PML nuclear body scaffold	gene	DOID:3068	glioblastoma		ISO	RGD:1345145	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23440206
1562602	Pml	PML nuclear body scaffold	gene	DOID:3275	thymoma		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562602	Pml	PML nuclear body scaffold	gene	DOID:4159	skin cancer	severity	ISO	RGD:1345145	D	RGD:41404688|PMID:19058256	20210203	RGD		human gene in a mouse model	
1562602	Pml	PML nuclear body scaffold	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345145	D	RGD:41404694|PMID:25293974	20210203	RGD		protein:decreased expression:kidney (human)	
1562602	Pml	PML nuclear body scaffold	gene	DOID:5408	Paget disease of bone		ISO	RGD:1345145	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21623375
1562602	Pml	PML nuclear body scaffold	gene	DOID:5419	schizophrenia		ISO	RGD:1345145	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1562602	Pml	PML nuclear body scaffold	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562602	Pml	PML nuclear body scaffold	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1557220	D	RGD:41404690|PMID:26118777	20210203	RGD		mRNA:increased expression:liver (mouse)	
1562602	Pml	PML nuclear body scaffold	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1345145	D	RGD:41404685|PMID:11511788	20210203	RGD		protein:increased expression:liver (human)	
1562602	Pml	PML nuclear body scaffold	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1557220	D	RGD:41404687|PMID:31144474	20210203	RGD		associated with hepatitis C	
1562602	Pml	PML nuclear body scaffold	gene	DOID:9000645	Rotavirus Infections		ISO	RGD:1345145	D	RGD:41404693|PMID:31677607	20210203	RGD		associated with gastroenteritis;mRNA:decreased expression:blood (human)	
1562602	Pml	PML nuclear body scaffold	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1345145	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:29335545
1562602	Pml	PML nuclear body scaffold	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1345145	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:20377131
1562602	Pml	PML nuclear body scaffold	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1345145	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:29335545
1562602	Pml	PML nuclear body scaffold	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1345145	D	RGD:11554173	20220308	CTD		CTD Direct Evidence: marker/mechanism	PMID:32929351
1562602	Pml	PML nuclear body scaffold	gene	DOID:9005715	Neoplasms, Second Primary		ISO	RGD:1345145	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19884644
1562602	Pml	PML nuclear body scaffold	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562602	Pml	PML nuclear body scaffold	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562602	Pml	PML nuclear body scaffold	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562602	Pml	PML nuclear body scaffold	gene	DOID:9538	multiple myeloma	severity	ISO	RGD:1345145	D	RGD:41404686|PMID:22906876	20210203	RGD		protein:increased expression:bone marrow (human)	
1562608	Kiaa1328	KIAA1328 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562608	Kiaa1328	KIAA1328 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562608	Kiaa1328	KIAA1328 homolog	gene	DOID:1059	intellectual disability		ISO	RGD:1343837	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1562608	Kiaa1328	KIAA1328 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562608	Kiaa1328	KIAA1328 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562608	Kiaa1328	KIAA1328 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1343837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562608	Kiaa1328	KIAA1328 homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562608	Kiaa1328	KIAA1328 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562608	Kiaa1328	KIAA1328 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562608	Kiaa1328	KIAA1328 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562608	Kiaa1328	KIAA1328 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562609	Pld5	phospholipase D family, member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562609	Pld5	phospholipase D family, member 5	gene	DOID:12849	autistic disorder		ISO	RGD:1603543	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20663923
1562609	Pld5	phospholipase D family, member 5	gene	DOID:1324	lung cancer		ISO	RGD:1603543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562609	Pld5	phospholipase D family, member 5	gene	DOID:3275	thymoma		ISO	RGD:1603543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562609	Pld5	phospholipase D family, member 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562609	Pld5	phospholipase D family, member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562609	Pld5	phospholipase D family, member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562610	Zfp2	zinc finger protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562610	Zfp2	zinc finger protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562610	Zfp2	zinc finger protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562617	Rab7b	Rab7b, member RAS oncogene family	gene	DOID:11476	osteoporosis		ISO	RGD:1346465	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
1562617	Rab7b	Rab7b, member RAS oncogene family	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1346465	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
1562618	Insyn1	inhibitory synaptic factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2298735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562620	Etv3l	ETS variant transcription factor 3 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562620	Etv3l	ETS variant transcription factor 3 like	gene	DOID:1324	lung cancer		ISO	RGD:1603450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562620	Etv3l	ETS variant transcription factor 3 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562620	Etv3l	ETS variant transcription factor 3 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562626	Tom1l1	target of myb1 like 1 membrane trafficking protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562626	Tom1l1	target of myb1 like 1 membrane trafficking protein	gene	DOID:10534	stomach cancer		ISO	RGD:1351961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562626	Tom1l1	target of myb1 like 1 membrane trafficking protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562626	Tom1l1	target of myb1 like 1 membrane trafficking protein	gene	DOID:1115	sarcoma		ISO	RGD:1351961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562626	Tom1l1	target of myb1 like 1 membrane trafficking protein	gene	DOID:1909	melanoma		ISO	RGD:1351961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562626	Tom1l1	target of myb1 like 1 membrane trafficking protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562626	Tom1l1	target of myb1 like 1 membrane trafficking protein	gene	DOID:4362	cervical cancer		ISO	RGD:1351961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562626	Tom1l1	target of myb1 like 1 membrane trafficking protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1351961	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1562626	Tom1l1	target of myb1 like 1 membrane trafficking protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562626	Tom1l1	target of myb1 like 1 membrane trafficking protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562626	Tom1l1	target of myb1 like 1 membrane trafficking protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351961	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1562626	Tom1l1	target of myb1 like 1 membrane trafficking protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351961	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562626	Tom1l1	target of myb1 like 1 membrane trafficking protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1351961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562627	Mafa	MAF bZIP transcription factor A	gene	DOID:0050524	maturity-onset diabetes of the young		ISS	RGD:1557163	D	RGD:13592920	20180518	MouseDO		OMIM:606391	
1562627	Mafa	MAF bZIP transcription factor A	gene	DOID:9004540	Islet Cell Adenomatosis		ISO	RGD:1604438	D	RGD:7240710	20200304	OMIM			
1562627	Mafa	MAF bZIP transcription factor A	gene	DOID:9004540	Islet Cell Adenomatosis		ISO	RGD:1604438	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Islet cell adenomatosis	PMID:25741868|PMID:29339498|PMID:35406570
1562627	Mafa	MAF bZIP transcription factor A	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:1557163	D	RGD:13506743|PMID:28487936	20180209	RGD			
1562627	Mafa	MAF bZIP transcription factor A	gene	DOID:9351	diabetes mellitus	treatment	IEP		D	RGD:13506744|PMID:23801580	20180209	RGD			
1562627	Mafa	MAF bZIP transcription factor A	gene	DOID:9352	type 2 diabetes mellitus		IEP		D	RGD:1599258|PMID:16772326	20250819	RGD		associated with ZDF-Leprfa/Crl strain; mRNA:altered expression:pancreatic islet	
1562627	Mafa	MAF bZIP transcription factor A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1557163	D	RGD:13506745|PMID:20424231	20180209	RGD		protein:decreased expression:beta cells of pancrea	
1562627	Mafa	MAF bZIP transcription factor A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1604438	D	RGD:13506742|PMID:24013263	20180209	RGD		protein:decreased expression:islet:	
1562627	Mafa	MAF bZIP transcription factor A	gene	DOID:9352	type 2 diabetes mellitus		ISS	RGD:1557163	D	RGD:13592920	20180518	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
1562629	Nbea	neurobeachin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323716	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1562629	Nbea	neurobeachin	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1323716	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1323717	D	RGD:13592920	20190516	MouseDO			
1562629	Nbea	neurobeachin	gene	DOID:10534	stomach cancer		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1323716	D	RGD:152995287|PMID:28035468	20220614	RGD		mRNA:altered expression:stomach tumor (human)	
1562629	Nbea	neurobeachin	gene	DOID:1059	intellectual disability		ISO	RGD:1323716	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562629	Nbea	neurobeachin	gene	DOID:1115	sarcoma		ISO	RGD:1323716	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1562629	Nbea	neurobeachin	gene	DOID:12849	autistic disorder		ISO	RGD:1323716	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12746398|PMID:20071347
1562629	Nbea	neurobeachin	gene	DOID:12849	autistic disorder		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:25741868|PMID:30208311
1562629	Nbea	neurobeachin	gene	DOID:1324	lung cancer		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:1826	epilepsy		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure	PMID:25741868|PMID:30269351
1562629	Nbea	neurobeachin	gene	DOID:1909	melanoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1323716	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
1562629	Nbea	neurobeachin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:3275	thymoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562629	Nbea	neurobeachin	gene	DOID:420	hypertrichosis		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:4362	cervical cancer		ISO	RGD:1323716	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1562629	Nbea	neurobeachin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562629	Nbea	neurobeachin	gene	DOID:5041	esophageal cancer		ISO	RGD:1323716	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:6039	uveal melanoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562629	Nbea	neurobeachin	gene	DOID:630	genetic disease		ISO	RGD:1323716	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:35852783
1562629	Nbea	neurobeachin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323716	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1562629	Nbea	neurobeachin	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323716	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:9004635	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY		ISO	RGD:1323716	D	RGD:7240710	20210217	OMIM			
1562629	Nbea	neurobeachin	gene	DOID:9004635	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY		ISO	RGD:1323716	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NBEA-related complex neurodevelopmental disorder | ClinVar Annotator: match by term: NBEA-related condition | ClinVar Annotator: match by term: NBEA-related developmental delay and generalized epilepsy | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without early-onset generalized epilepsy	PMID:12746398|PMID:25741868|PMID:28492532|PMID:30269351|PMID:34412939|PMID:34609286|PMID:35852783|PMID:38958063
1562629	Nbea	neurobeachin	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562629	Nbea	neurobeachin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:9008582	Developmental Disease		ISO	RGD:1323716	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1562629	Nbea	neurobeachin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562629	Nbea	neurobeachin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1562631	Tlcd2	TLC domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2292702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562631	Tlcd2	TLC domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2292702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:0050998	nonprogressive cerebellar ataxia with mental retardation		ISO	RGD:1348508	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities	PMID:25741868
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1348508	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:670	amphetamine abuse		ISO	RGD:1348508	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562635	Smyd3	SET and MYND domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348508	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:1115	sarcoma		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:1909	melanoma		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:3070	high grade glioma		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:4362	cervical cancer		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:5041	esophageal cancer		ISO	RGD:1349929	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562639	Dennd4a	DENN domain containing 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:0080600	COVID-19		ISO	RGD:1605960	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:10534	stomach cancer		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:1324	lung cancer		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:1909	melanoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:3275	thymoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1605960	D	RGD:11554173	20210907	CTD		CTD Direct Evidence: marker/mechanism	PMID:34419073
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:4362	cervical cancer		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:5041	esophageal cancer		ISO	RGD:1605960	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605960	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:9000918	Disease Progression		ISO	RGD:1605960	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34480403
1562646	Ncapg	non-SMC condensin I complex, subunit G	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1605960	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:34480403
1562653	Saxo2	stabilizer of axonemal microtubules 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562653	Saxo2	stabilizer of axonemal microtubules 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562653	Saxo2	stabilizer of axonemal microtubules 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562653	Saxo2	stabilizer of axonemal microtubules 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562653	Saxo2	stabilizer of axonemal microtubules 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:0050562	West syndrome		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:0080566	congenital disorder of glycosylation In		ISO	RGD:1342907	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:0080566	congenital disorder of glycosylation In		ISO	RGD:1342907	D	RGD:7240710	20130221	OMIM			
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:0080566	congenital disorder of glycosylation In		ISO	RGD:1342907	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N | ClinVar Annotator: match by term: Congenital disorder of glycosylation type In | ClinVar Annotator: match by term: RFT1-related condition	PMID:18313027|PMID:19267216|PMID:19856127|PMID:23111317|PMID:25741868|PMID:26892341|PMID:28492532|PMID:30071302|PMID:30653653|PMID:31231135
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:10907	microcephaly		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	PMID:25741868
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:1115	sarcoma		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:11383	cryptorchidism		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:28492532|PMID:30071302
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:1324	lung cancer		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:1826	epilepsy		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:1909	melanoma		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:2846	bruxism		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:25741868
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:3275	thymoma		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1342907	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:630	genetic disease		ISO	RGD:1342907	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26892341|PMID:28492532
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:9004125	Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hemangioma	PMID:28940310
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:9004538	Hearing Loss		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562654	Rft1	RFT1 glycolipid translocator homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562656	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562656	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1604594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562656	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1604594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562656	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562656	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1562656	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562656	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562656	Acsf2	acyl-CoA synthetase family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562657	Ap5b1	adaptor related protein complex 5 subunit beta 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1606994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:28832565
1562657	Ap5b1	adaptor related protein complex 5 subunit beta 1	gene	DOID:4448	macular degeneration		ISO	RGD:1606994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:25741868|PMID:40081374
1562657	Ap5b1	adaptor related protein complex 5 subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562657	Ap5b1	adaptor related protein complex 5 subunit beta 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562658	Cfap126	cilia and flagella associated protein 126	gene	DOID:1115	sarcoma		ISO	RGD:1604188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562658	Cfap126	cilia and flagella associated protein 126	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562658	Cfap126	cilia and flagella associated protein 126	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562658	Cfap126	cilia and flagella associated protein 126	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562664	Zfx	zinc finger protein X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562664	Zfx	zinc finger protein X-linked	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562664	Zfx	zinc finger protein X-linked	gene	DOID:0060313	tracheomalacia		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562664	Zfx	zinc finger protein X-linked	gene	DOID:10892	hypospadias		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:1115	sarcoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562664	Zfx	zinc finger protein X-linked	gene	DOID:11202	primary hyperparathyroidism		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary hyperparathyroidism	
1562664	Zfx	zinc finger protein X-linked	gene	DOID:11836	clubfoot		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:1324	lung cancer		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562664	Zfx	zinc finger protein X-linked	gene	DOID:1657	ventricular septal defect		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:1826	epilepsy		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:1909	melanoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562664	Zfx	zinc finger protein X-linked	gene	DOID:4362	cervical cancer		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562664	Zfx	zinc finger protein X-linked	gene	DOID:5041	esophageal cancer		ISO	RGD:1344344	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562664	Zfx	zinc finger protein X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562664	Zfx	zinc finger protein X-linked	gene	DOID:769	neuroblastoma		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:850	lung disease		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:9001510	Funnel Chest		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:9001809	Urinary Retention		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Urinary retention	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:9003700	Tracheobronchomalacia		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tracheobronchomalacia	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:9005616	Micrognathism		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562664	Zfx	zinc finger protein X-linked	gene	DOID:9007817	Macroglossia		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868
1562664	Zfx	zinc finger protein X-linked	gene	DOID:9008780	syndromic X-linked intellectual developmental disorder 37		ISO	RGD:1344344	D	RGD:7240710	20240515	OMIM			
1562664	Zfx	zinc finger protein X-linked	gene	DOID:9008780	syndromic X-linked intellectual developmental disorder 37		ISO	RGD:1344344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 37	PMID:25741868|PMID:32406922|PMID:38325380|PMID:41074764
1562664	Zfx	zinc finger protein X-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562664	Zfx	zinc finger protein X-linked	gene	DOID:9256	colorectal cancer		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:0060737	junctional epidermolysis bullosa Herlitz type		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa, junctional, Herlitz-Pearson type | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz	PMID:10577906|PMID:10660342|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16199547|PMID:16403119|PMID:16473856|PMID:17476356|PMID:17576681|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:22931927|PMID:23278291|PMID:24617447|PMID:25525159|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28392661|PMID:28492532|PMID:28830826|PMID:29334134|PMID:29900604|PMID:32124492|PMID:32484238|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8618020|PMID:8824879|PMID:8983017|PMID:9160387|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9536098|PMID:9690563|PMID:9767254
1562668	Lamb3	laminin subunit beta 3	gene	DOID:0060737	junctional epidermolysis bullosa Herlitz type		ISS	RGD:1558574	D	RGD:13592920	20220609	MouseDO		OMIM:226700	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:0060738	junctional epidermolysis bullosa non-Herlitz type		ISO	RGD:1344175	D	RGD:11554173	20220614	CTD		CTD Direct Evidence: marker/mechanism	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:0060738	junctional epidermolysis bullosa non-Herlitz type		ISO	RGD:1344175	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type	PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:12813757|PMID:15311214|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16439963|PMID:16473856|PMID:17115047|PMID:17476356|PMID:21801158|PMID:22931927|PMID:23278291|PMID:24617447|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:28087116|PMID:28492532|PMID:28830826|PMID:29334134|PMID:30544381|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9501007|PMID:9690563|PMID:9767254|PMID:9856855
1562668	Lamb3	laminin subunit beta 3	gene	DOID:0060738	junctional epidermolysis bullosa non-Herlitz type		ISO	RGD:1344175	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL | ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type	PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16199547|PMID:16439963|PMID:16473856|PMID:17115047|PMID:17476356|PMID:17576681|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:22371912|PMID:22931927|PMID:23278291|PMID:24617447|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27120332|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28492532|PMID:28561256|PMID:28830826|PMID:29334134|PMID:29900604|PMID:30046887|PMID:30544381|PMID:31737911|PMID:33274474|PMID:33822359|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9501007|PMID:9536098|PMID:9690563|PMID:9767254|PMID:9856855
1562668	Lamb3	laminin subunit beta 3	gene	DOID:0060738	junctional epidermolysis bullosa non-Herlitz type		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL | ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type	PMID:10577906|PMID:10660342|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16473856|PMID:17476356|PMID:17576681|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:23278291|PMID:24617447|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28830826|PMID:36287101|PMID:39420565|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8618020|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9536098|PMID:9690563|PMID:9767254
1562668	Lamb3	laminin subunit beta 3	gene	DOID:0060738	junctional epidermolysis bullosa non-Herlitz type		ISS	RGD:1558574	D	RGD:13592920	20230718	MouseDO		OMIM:226650	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:0080988	pretibial dystrophic epidermolysis bullosa		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa	PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:15311214|PMID:15538630|PMID:15663509|PMID:16473856|PMID:17476356|PMID:20301304|PMID:21801158|PMID:25708563|PMID:25741868|PMID:27062385|PMID:28492532|PMID:28830826|PMID:7698759|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513
1562668	Lamb3	laminin subunit beta 3	gene	DOID:0110054	amelogenesis imperfecta type 1A		ISO	RGD:1344175	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:0110054	amelogenesis imperfecta type 1A		ISO	RGD:1344175	D	RGD:7240710	20150225	OMIM			
1562668	Lamb3	laminin subunit beta 3	gene	DOID:0110054	amelogenesis imperfecta type 1A		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IA | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IA	PMID:10577906|PMID:10660342|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16473856|PMID:17476356|PMID:17576681|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:23278291|PMID:24617447|PMID:25525159|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28830826|PMID:32124492|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8618020|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9536098|PMID:9690563|PMID:9767254
1562668	Lamb3	laminin subunit beta 3	gene	DOID:10534	stomach cancer		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:1115	sarcoma		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:12849	autistic disorder		ISO	RGD:1344175	D	RGD:8554872	20150811	ClinVar		ClinVar Annotator: match by term: Autism	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:1324	lung cancer		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1344175	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: amelogenesis imperfecta	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:2730	epidermolysis bullosa		ISO	RGD:1344175	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa	PMID:25741868
1562668	Lamb3	laminin subunit beta 3	gene	DOID:3209	junctional epidermolysis bullosa		ISO	RGD:1344175	D	RGD:11554173	20180130	CTD		CTD Direct Evidence: marker/mechanism	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:3209	junctional epidermolysis bullosa		ISO	RGD:1344175	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional | ClinVar Annotator: match by term: Junctional Epidermolysis Bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa | ClinVar Annotator: match by term: junctional epidermolysis bullosa	PMID:10577906|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16473856|PMID:16971478|PMID:17476356|PMID:17576681|PMID:17916201|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:24033266|PMID:24617447|PMID:25525159|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28492532|PMID:28561256|PMID:28830826|PMID:29900604|PMID:32124492|PMID:34539738|PMID:36246619|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8618020|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9536098|PMID:9690563|PMID:9767254|PMID:9856852
1562668	Lamb3	laminin subunit beta 3	gene	DOID:3209	junctional epidermolysis bullosa	susceptibility	ISO	RGD:1344175	D	RGD:1600209|PMID:7698759	20070302	RGD		DNA:nonsense mutation	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:3275	thymoma		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1344175	D	RGD:13793368|PMID:10964684	20181003	RGD		mRNA:increased expression:lung:	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:4603	epidermolytic hyperkeratosis		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epidermolytic ichthyosis	PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:15311214|PMID:15538630|PMID:15663509|PMID:16473856|PMID:17476356|PMID:20301304|PMID:21801158|PMID:25708563|PMID:25741868|PMID:27062385|PMID:28492532|PMID:28830826|PMID:7698759|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513
1562668	Lamb3	laminin subunit beta 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344175	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1344175	D	RGD:13793369|PMID:12855645	20181003	RGD		DNA:hyper-methylation:promoter:	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:630	genetic disease		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1562668	Lamb3	laminin subunit beta 3	gene	DOID:9000850	Junctional Epidermolysis Bullosa 1A, Intermediate		ISO	RGD:1344175	D	RGD:7240710	20220608	OMIM			
1562668	Lamb3	laminin subunit beta 3	gene	DOID:9000850	Junctional Epidermolysis Bullosa 1A, Intermediate		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE	PMID:10577906|PMID:10660342|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16473856|PMID:17476356|PMID:20301304|PMID:21801158|PMID:23278291|PMID:24617447|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28830826|PMID:29900604|PMID:30046887|PMID:7550237|PMID:7698759|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9856855
1562668	Lamb3	laminin subunit beta 3	gene	DOID:9001145	Junctional Epidermolysis Bullosa 1B, Severe		ISO	RGD:1344175	D	RGD:7240710	20220608	OMIM			
1562668	Lamb3	laminin subunit beta 3	gene	DOID:9001145	Junctional Epidermolysis Bullosa 1B, Severe		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE	PMID:10577906|PMID:10660342|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16473856|PMID:17476356|PMID:17576681|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:23278291|PMID:24617447|PMID:24947307|PMID:25525159|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28830826|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8618020|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513|PMID:9457915|PMID:9536098|PMID:9579554|PMID:9690563|PMID:9767254|PMID:9856852
1562668	Lamb3	laminin subunit beta 3	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:1344175	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:15541073
1562668	Lamb3	laminin subunit beta 3	gene	DOID:9006215	Exfoliative Dermatitis		ISO	RGD:1344175	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Erythroderma	PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:15311214|PMID:15538630|PMID:15663509|PMID:16473856|PMID:17476356|PMID:20301304|PMID:21801158|PMID:25708563|PMID:25741868|PMID:27062385|PMID:28492532|PMID:28830826|PMID:7698759|PMID:8824879|PMID:8983017|PMID:9205497|PMID:9242513
1562668	Lamb3	laminin subunit beta 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562668	Lamb3	laminin subunit beta 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562672	Arx	aristaless related homeobox	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:0050453	lissencephaly		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pachygyria	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:0050453	lissencephaly		ISS	RGD:1557424	D	RGD:13592920	20180518	MouseDO		OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191	
1562672	Arx	aristaless related homeobox	gene	DOID:0050562	West syndrome		ISO	RGD:1557424	D	RGD:11565833|PMID:19439424	20161129	RGD			
1562672	Arx	aristaless related homeobox	gene	DOID:0050709	early infantile epileptic encephalopathy		ISS	RGD:1557424	D	RGD:13592920	20180518	MouseDO		OMIM:300088 | OMIM:300607 | OMIM:300672 | OMIM:308350 | OMIM:609304 | OMIM:612164 | OMIM:613402 | OMIM:613477 | OMIM:613720 | OMIM:613721 | OMIM:613722 | OMIM:614558 | OMIM:614959 | OMIM:615006 | OMIM:615338 | OMIM:615473 | OMIM:615476	
1562672	Arx	aristaless related homeobox	gene	DOID:0060309	syndromic X-linked intellectual disability		ISS	RGD:1557424	D	RGD:13592920	20180913	MouseDO			
1562672	Arx	aristaless related homeobox	gene	DOID:0060806	syndromic X-linked intellectual disability Hedera type		ISO	RGD:1344380	D	RGD:11565831|PMID:12177367	20161129	RGD		DNA:missense mutation:cds:p.P353L (human)	
1562672	Arx	aristaless related homeobox	gene	DOID:0060806	syndromic X-linked intellectual disability Hedera type		ISO	RGD:1557424	D	RGD:11565840|PMID:19605412	20161129	RGD			
1562672	Arx	aristaless related homeobox	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1344380	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562672	Arx	aristaless related homeobox	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1344380	D	RGD:11565846|PMID:17664401	20161129	RGD		associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human)	
1562672	Arx	aristaless related homeobox	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1344380	D	RGD:7240710	20130221	OMIM			
1562672	Arx	aristaless related homeobox	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1344380	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome	PMID:11889467|PMID:12379852|PMID:14722918|PMID:15726411|PMID:16199547|PMID:16235064|PMID:16523516|PMID:16995578|PMID:17331656|PMID:17490853|PMID:17576681|PMID:17664401|PMID:17668384|PMID:18414213|PMID:19439424|PMID:19507262|PMID:19605412|PMID:19738637|PMID:20148114|PMID:20300201|PMID:20506206|PMID:21108397|PMID:21204215|PMID:21416597|PMID:23039062|PMID:23246292|PMID:23583054|PMID:24643514|PMID:25644381|PMID:25741868|PMID:26029707|PMID:26337422|PMID:26467025|PMID:27864847|PMID:28174645|PMID:28387369|PMID:28492532|PMID:29152528|PMID:29778428|PMID:30108342|PMID:30255221|PMID:30552426|PMID:31145546|PMID:31324350|PMID:31623504|PMID:31691806|PMID:31791873|PMID:32371413|PMID:32383243|PMID:32613771|PMID:32712949|PMID:33951346|PMID:34992632|PMID:35052376|PMID:35121198|PMID:35231114|PMID:37879892|PMID:39272213|PMID:9536098
1562672	Arx	aristaless related homeobox	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1557424	D	RGD:11565838|PMID:19587282	20161129	RGD			
1562672	Arx	aristaless related homeobox	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:0112021	non-syndromic X-linked intellectual disability ARX-related		ISO	RGD:1344380	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562672	Arx	aristaless related homeobox	gene	DOID:0112021	non-syndromic X-linked intellectual disability ARX-related		ISO	RGD:1344380	D	RGD:7240710	20130425	OMIM			
1562672	Arx	aristaless related homeobox	gene	DOID:0112021	non-syndromic X-linked intellectual disability ARX-related		ISO	RGD:1344380	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 29 | ClinVar Annotator: match by term: Mental retardation, X-linked 52 | ClinVar Annotator: match by term: Mental retardation, with or without seizures, ARX-related, X-linked	PMID:11971879|PMID:12379852|PMID:14722918|PMID:16235064|PMID:16523516|PMID:17331656|PMID:18414213|PMID:19439424|PMID:19738637|PMID:20300201|PMID:20506206|PMID:21204215|PMID:24643514|PMID:25741868|PMID:26029707|PMID:26337422|PMID:26467025|PMID:28492532|PMID:30255221|PMID:37879892
1562672	Arx	aristaless related homeobox	gene	DOID:0112151	corpus callosum agenesis-abnormal genitalia syndrome		ISO	RGD:1344380	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562672	Arx	aristaless related homeobox	gene	DOID:0112151	corpus callosum agenesis-abnormal genitalia syndrome		ISO	RGD:1344380	D	RGD:7240710	20130425	OMIM			
1562672	Arx	aristaless related homeobox	gene	DOID:0112151	corpus callosum agenesis-abnormal genitalia syndrome		ISO	RGD:1344380	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome | ClinVar Annotator: match by term: Proud syndrome	PMID:14722918|PMID:25741868|PMID:28492532|PMID:34298581
1562672	Arx	aristaless related homeobox	gene	DOID:0112238	X-linked lissencephaly 2		ISO	RGD:1344380	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562672	Arx	aristaless related homeobox	gene	DOID:0112238	X-linked lissencephaly 2		ISO	RGD:1344380	D	RGD:11565832|PMID:12379852	20161129	RGD		DNA:mutations:multiple (human)	
1562672	Arx	aristaless related homeobox	gene	DOID:0112238	X-linked lissencephaly 2		ISO	RGD:1344380	D	RGD:7240710	20130221	OMIM			
1562672	Arx	aristaless related homeobox	gene	DOID:0112238	X-linked lissencephaly 2		ISO	RGD:1344380	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: HYDRANENCEPHALY WITH ABNORMAL GENITALIA | ClinVar Annotator: match by term: LISSENCEPHALY, X-LINKED, 2 | ClinVar Annotator: match by term: Lissencephaly, X-linked 2 | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia | ClinVar Annotator: match by term: lissencephaly, X-linked, 2	PMID:12379852|PMID:18414213|PMID:19439424|PMID:19738637|PMID:25741868|PMID:28492532
1562672	Arx	aristaless related homeobox	gene	DOID:1059	intellectual disability		ISO	RGD:1344380	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:14722918|PMID:18414213|PMID:25741868|PMID:28492532
1562672	Arx	aristaless related homeobox	gene	DOID:1059	intellectual disability		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:10609	rickets		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rickets	PMID:28492532
1562672	Arx	aristaless related homeobox	gene	DOID:10907	microcephaly		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:10908	hydrocephalus		ISO	RGD:1344380	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:11383	cryptorchidism		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:12849	autistic disorder		ISO	RGD:1344380	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	
1562672	Arx	aristaless related homeobox	gene	DOID:13250	diarrhea		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:14744	Partington syndrome		ISO	RGD:1344380	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562672	Arx	aristaless related homeobox	gene	DOID:14744	Partington syndrome		ISO	RGD:1344380	D	RGD:11565843|PMID:24528893	20161129	RGD		DNA:duplication:exon:c.428-451dup (human)	
1562672	Arx	aristaless related homeobox	gene	DOID:14744	Partington syndrome		ISO	RGD:1344380	D	RGD:7240710	20130221	OMIM			
1562672	Arx	aristaless related homeobox	gene	DOID:14744	Partington syndrome		ISO	RGD:1344380	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mental retardation, X-linked, with dystonic movements, ataxia, and seizures | ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome	PMID:16235064|PMID:16523516|PMID:17331656|PMID:20506206|PMID:21204215|PMID:25741868|PMID:26029707|PMID:28492532
1562672	Arx	aristaless related homeobox	gene	DOID:1826	epilepsy		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:14722918|PMID:18414213|PMID:25741868|PMID:28492532
1562672	Arx	aristaless related homeobox	gene	DOID:1923	disorder of sexual development		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: ambiguous genitalia	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:3650	lactic acidosis		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562672	Arx	aristaless related homeobox	gene	DOID:630	genetic disease		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15248097|PMID:18414213|PMID:18462864|PMID:19439424|PMID:19738637|PMID:20384723|PMID:21426321|PMID:23039062|PMID:25741868|PMID:26467025|PMID:28492532
1562672	Arx	aristaless related homeobox	gene	DOID:8461	Aicardi syndrome		ISO	RGD:1344380	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Aicardi Syndrome	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:8577	ulcerative colitis		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ulcerative colitis	
1562672	Arx	aristaless related homeobox	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1344380	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Agenesis of corpus callosum | ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1562672	Arx	aristaless related homeobox	gene	DOID:9003133	Hypertelorism		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1562672	Arx	aristaless related homeobox	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:9003816	Macrocephaly		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1562672	Arx	aristaless related homeobox	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1562672	Arx	aristaless related homeobox	gene	DOID:9004992	Apnea		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:9005077	Joint Instability		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	
1562672	Arx	aristaless related homeobox	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1562672	Arx	aristaless related homeobox	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:9005616	Micrognathism		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1344380	D	RGD:11565836|PMID:15850492	20161129	RGD		DNA:duplication:exon:c.428-451dup (human)	
1562672	Arx	aristaless related homeobox	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1344380	D	RGD:1599257|PMID:11971879	20070122	RGD		DNA:missense mutation:cds:p.L33P (human)	
1562672	Arx	aristaless related homeobox	gene	DOID:9006030	Infant Death		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Death in infancy	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
1562672	Arx	aristaless related homeobox	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1344380	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:12874405|PMID:14722918|PMID:19738637|PMID:21496008|PMID:25741868|PMID:28150386|PMID:30108342|PMID:32519823
1562672	Arx	aristaless related homeobox	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1344380	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1562672	Arx	aristaless related homeobox	gene	DOID:9352	type 2 diabetes mellitus		IEP		D	RGD:1599258|PMID:16772326	20070122	RGD			
1562672	Arx	aristaless related homeobox	gene	DOID:936	brain disease		ISO	RGD:1344380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
1562673	Zg16b	zymogen granule protein 16B	gene	DOID:1324	lung cancer		ISO	RGD:1605005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562673	Zg16b	zymogen granule protein 16B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1351357	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:24209692|PMID:25741868
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1351357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:24209692|PMID:25741868
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:11981	morbid obesity		ISO	RGD:1351357	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:29273807
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:1324	lung cancer		ISO	RGD:1351357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:1909	melanoma		ISO	RGD:1351357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:3070	high grade glioma		ISO	RGD:1351357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351357	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:1351357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:24209692|PMID:25741868
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1351357	D	RGD:11554173	20190409	CTD		CTD Direct Evidence: marker/mechanism	PMID:30718926
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1351357	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:24209692|PMID:25741868
1562674	Ksr2	kinase suppressor of ras 2	gene	DOID:9970	obesity		ISO	RGD:1351357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:24209692|PMID:25741868
1562679	Epha10	EPH receptor A10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562679	Epha10	EPH receptor A10	gene	DOID:0070611	autosomal dominant nonsyndromic deafness 88		ISO	RGD:1347579	D	RGD:7240710	20230505	OMIM			
1562679	Epha10	EPH receptor A10	gene	DOID:10534	stomach cancer		ISO	RGD:1347579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562679	Epha10	EPH receptor A10	gene	DOID:1324	lung cancer		ISO	RGD:1347579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562679	Epha10	EPH receptor A10	gene	DOID:1909	melanoma		ISO	RGD:1347579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562679	Epha10	EPH receptor A10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562679	Epha10	EPH receptor A10	gene	DOID:4362	cervical cancer		ISO	RGD:1347579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562679	Epha10	EPH receptor A10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562679	Epha10	EPH receptor A10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562679	Epha10	EPH receptor A10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562679	Epha10	EPH receptor A10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562679	Epha10	EPH receptor A10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562679	Epha10	EPH receptor A10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1562682	Capn13	calpain 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562682	Capn13	calpain 13	gene	DOID:4362	cervical cancer		ISO	RGD:1349624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562682	Capn13	calpain 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562682	Capn13	calpain 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562682	Capn13	calpain 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562682	Capn13	calpain 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:10534	stomach cancer		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1604378	D	RGD:151361142|PMID:29367342	20220224	RGD			
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1604378	D	RGD:151361142|PMID:29367342	20220224	RGD			
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1604378	D	RGD:151361142|PMID:29367342	20220224	RGD			
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:1115	sarcoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:1324	lung cancer		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:1909	melanoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562686	Gse1	Gse1 coiled-coil protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562689	Ifnlr1	interferon, lambda receptor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1603554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1562689	Ifnlr1	interferon, lambda receptor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562689	Ifnlr1	interferon, lambda receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603554	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562689	Ifnlr1	interferon, lambda receptor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562689	Ifnlr1	interferon, lambda receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562689	Ifnlr1	interferon, lambda receptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562689	Ifnlr1	interferon, lambda receptor 1	gene	DOID:8893	psoriasis		ISO	RGD:1603554	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953190
1562689	Ifnlr1	interferon, lambda receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562689	Ifnlr1	interferon, lambda receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:0080178	mucositis		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: mucositis	PMID:25741868
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:10534	stomach cancer		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:1059	intellectual disability		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:1826	epilepsy		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:3070	high grade glioma		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:3275	thymoma		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:4362	cervical cancer		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:5041	esophageal cancer		ISO	RGD:1601864	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:540	strabismus		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:630	genetic disease		ISO	RGD:1601864	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1601864	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:9000918	Disease Progression		ISO	RGD:1601864	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:9001541	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2		ISO	RGD:1601864	D	RGD:7240710	20190315	OMIM			
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:9001541	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2		ISO	RGD:1601864	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 | ClinVar Annotator: match by term: NAXD-related condition	PMID:25741868|PMID:28492532|PMID:30576410|PMID:31755961|PMID:32462209
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:9004866	Ataxia		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532|PMID:30576410|PMID:31755961|PMID:32462209
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:30576410|PMID:31755961|PMID:32462209
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532|PMID:30576410|PMID:31755961|PMID:32462209
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562691	Naxd	NAD(P)HX dehydratase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562692	Atxn7	ataxin 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562692	Atxn7	ataxin 7	gene	DOID:0050581	brachydactyly		ISO	RGD:1350255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:37091313
1562692	Atxn7	ataxin 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562692	Atxn7	ataxin 7	gene	DOID:0050958	spinocerebellar ataxia 7		ISO	RGD:1350255	D	RGD:7240710	20180425	OMIM			
1562692	Atxn7	ataxin 7	gene	DOID:0050958	spinocerebellar ataxia 7		ISO	RGD:1350255	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: ATXN7-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 7	PMID:25741868
1562692	Atxn7	ataxin 7	gene	DOID:0050958	spinocerebellar ataxia 7		ISS	RGD:1558157	D	RGD:13592920	20230718	MouseDO		OMIM:164500	
1562692	Atxn7	ataxin 7	gene	DOID:10534	stomach cancer		ISO	RGD:1350255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562692	Atxn7	ataxin 7	gene	DOID:1094	attention deficit hyperactivity disorder		ISS	RGD:1558157	D	RGD:13592920	20250710	MouseDO		OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312	
1562692	Atxn7	ataxin 7	gene	DOID:1115	sarcoma		ISO	RGD:1350255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562692	Atxn7	ataxin 7	gene	DOID:1324	lung cancer		ISO	RGD:1350255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562692	Atxn7	ataxin 7	gene	DOID:1909	melanoma		ISO	RGD:1350255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562692	Atxn7	ataxin 7	gene	DOID:37	skin disease		ISO	RGD:1350255	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1562692	Atxn7	ataxin 7	gene	DOID:4362	cervical cancer		ISO	RGD:1350255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562692	Atxn7	ataxin 7	gene	DOID:480	movement disease		ISO	RGD:1350255	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25664129
1562692	Atxn7	ataxin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562692	Atxn7	ataxin 7	gene	DOID:630	genetic disease		ISO	RGD:1350255	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1562692	Atxn7	ataxin 7	gene	DOID:8501	fundus dystrophy		ISO	RGD:1350255	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1562692	Atxn7	ataxin 7	gene	DOID:9000343	Vision Disorders		ISO	RGD:1350255	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25664129
1562692	Atxn7	ataxin 7	gene	DOID:9001510	Funnel Chest		ISO	RGD:1350255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:37091313
1562692	Atxn7	ataxin 7	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1350255	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25664129
1562692	Atxn7	ataxin 7	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1350255	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25664129
1562692	Atxn7	ataxin 7	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1350255	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25664129
1562692	Atxn7	ataxin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562692	Atxn7	ataxin 7	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1350255	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1562692	Atxn7	ataxin 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562693	Rbmx2	RNA binding motif protein, X-linked 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562693	Rbmx2	RNA binding motif protein, X-linked 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562693	Rbmx2	RNA binding motif protein, X-linked 2	gene	DOID:1324	lung cancer		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562693	Rbmx2	RNA binding motif protein, X-linked 2	gene	DOID:1909	melanoma		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562693	Rbmx2	RNA binding motif protein, X-linked 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562693	Rbmx2	RNA binding motif protein, X-linked 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562693	Rbmx2	RNA binding motif protein, X-linked 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562693	Rbmx2	RNA binding motif protein, X-linked 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562693	Rbmx2	RNA binding motif protein, X-linked 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345969	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:0060469	Miller-Dieker lissencephaly syndrome		ISS	RGD:1557600	D	RGD:13592920	20180518	MouseDO		OMIM:247200	
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:0070476	diphthamide deficiency syndrome		ISO	RGD:1352320	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair | ClinVar Annotator: match by term: developmental delay with short stature, dysmorphic facial features, and sparse hair	PMID:25741868|PMID:29565416|PMID:30877278|PMID:32595695|PMID:32732226|PMID:35577939|PMID:36647814|PMID:37326029|PMID:39843441|PMID:40662098
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:0070477	diphthamide deficiency syndrome 1		ISO	RGD:1352320	D	RGD:7240710	20190315	OMIM			
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:0070477	diphthamide deficiency syndrome 1		ISO	RGD:1352320	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 1 | ClinVar Annotator: match by term: DPH1-related condition | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | ClinVar Annotator: match by term: LOUCKS-INNES SYNDROME	PMID:14744934|PMID:24895408|PMID:25741868|PMID:28245596|PMID:28492532|PMID:29362492|PMID:29410513
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:0070477	diphthamide deficiency syndrome 1		ISS	RGD:1557600	D	RGD:13592920	20240620	MouseDO			
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:0080552	congenital disorder of glycosylation Ia		ISO	RGD:1352320	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A	PMID:25741868|PMID:29565416|PMID:30877278|PMID:32732226
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:1115	sarcoma		ISO	RGD:1352320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:3275	thymoma		ISO	RGD:1352320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352320	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:630	genetic disease		ISO	RGD:1352320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352320	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: global developmental delay	
1562694	Dph1	diphthamide biosynthesis 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1352320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562696	Pot1	protection of telomeres 1	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISS	RGD:1557758	D	RGD:13592920	20260625	MouseDO			
1562696	Pot1	protection of telomeres 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:16199547|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32155570
1562696	Pot1	protection of telomeres 1	gene	DOID:0080014	chromosomal disease		ISO	RGD:1344340	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23502782
1562696	Pot1	protection of telomeres 1	gene	DOID:0080212	polycystic kidney disease 4		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease 4	PMID:25741868|PMID:28492532|PMID:32155570|PMID:34193977|PMID:37466057|PMID:38254993|PMID:41564438
1562696	Pot1	protection of telomeres 1	gene	DOID:0081304	high-grade astrocytoma with piloid features		ISO	RGD:1344340	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: High-grade astrocytoma with piloid features	PMID:25741868|PMID:28492532|PMID:32155570
1562696	Pot1	protection of telomeres 1	gene	DOID:10041	dysplastic nevus syndrome		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: B-K MOLE SYNDROME	PMID:28492532
1562696	Pot1	protection of telomeres 1	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1344340	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23502782|PMID:24292274
1562696	Pot1	protection of telomeres 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562696	Pot1	protection of telomeres 1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1344340	D	RGD:151356939|PMID:18425352	20220218	RGD			
1562696	Pot1	protection of telomeres 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562696	Pot1	protection of telomeres 1	gene	DOID:1115	sarcoma		ISO	RGD:1344340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:27528712|PMID:28492532|PMID:29625052|PMID:32155570
1562696	Pot1	protection of telomeres 1	gene	DOID:1324	lung cancer		ISO	RGD:1344340	D	RGD:151356947|PMID:19285750	20220218	RGD		DNA:SNP: : rs10244817 (human)	
1562696	Pot1	protection of telomeres 1	gene	DOID:1324	lung cancer		ISO	RGD:1344340	D	RGD:151356948|PMID:32514122	20220218	RGD		DNA:SNP: :p.V326A (rs75932146) (human)	
1562696	Pot1	protection of telomeres 1	gene	DOID:1324	lung cancer		ISO	RGD:1344340	D	RGD:151356949|PMID:27459707	20220218	RGD		DNA:SNP: :rs116895242 (human)	
1562696	Pot1	protection of telomeres 1	gene	DOID:1324	lung cancer		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562696	Pot1	protection of telomeres 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:24686849|PMID:35101336
1562696	Pot1	protection of telomeres 1	gene	DOID:1826	epilepsy		ISO	RGD:1344340	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: epilepsy	PMID:24686849|PMID:25482530|PMID:25741868|PMID:27329137|PMID:28492532|PMID:29036293|PMID:29522175|PMID:29550946|PMID:29625052|PMID:32155570|PMID:33054084|PMID:41564438
1562696	Pot1	protection of telomeres 1	gene	DOID:1909	melanoma		ISO	RGD:1344340	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24686849
1562696	Pot1	protection of telomeres 1	gene	DOID:1909	melanoma		ISO	RGD:1344340	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:24686846|PMID:25741868|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977|PMID:37140166
1562696	Pot1	protection of telomeres 1	gene	DOID:1909	melanoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1562696	Pot1	protection of telomeres 1	gene	DOID:1949	cholecystitis		ISO	RGD:1344340	D	RGD:151356941|PMID:28643740	20220218	RGD		mRNA:decreased expression:gall bladder	
1562696	Pot1	protection of telomeres 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1344340	D	RGD:151356949|PMID:27459707	20220218	RGD		DNA:SNP: :rs116895242 (human)	
1562696	Pot1	protection of telomeres 1	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1344340	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:25741868|PMID:28492532|PMID:30523342
1562696	Pot1	protection of telomeres 1	gene	DOID:3068	glioblastoma		ISO	RGD:1344340	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Glioblastoma, somatic	PMID:28492532
1562696	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36113475|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: IDH1-related condition	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Pediatric high-grade glioma	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:39315505|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:39315505|PMID:40015989|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:17576681|PMID:24686846|PMID:24686849|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26467025|PMID:27528712|PMID:28492532|PMID:29523635|PMID:29693246|PMID:30414346|PMID:30523342|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33216348|PMID:34193977|PMID:34769003|PMID:35456397|PMID:36539277|PMID:37466057|PMID:38254993|PMID:41564438|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344340	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:24686846|PMID:24686849|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26467025|PMID:27528712|PMID:28492532|PMID:29523635|PMID:29693246|PMID:30414346|PMID:30523342|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33216348|PMID:34193977|PMID:34769003|PMID:35456397|PMID:36539277|PMID:37466057|PMID:38254993|PMID:41564438
1562696	Pot1	protection of telomeres 1	gene	DOID:3275	thymoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
1562696	Pot1	protection of telomeres 1	gene	DOID:3459	breast carcinoma		ISO	RGD:1344340	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:27528712|PMID:28492532|PMID:29625052|PMID:32155570
1562696	Pot1	protection of telomeres 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:25741868
1562696	Pot1	protection of telomeres 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562696	Pot1	protection of telomeres 1	gene	DOID:3963	thyroid gland carcinoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid gland carcinoma	PMID:25741868|PMID:28492532|PMID:28853721|PMID:32720348|PMID:33050356
1562696	Pot1	protection of telomeres 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:28492532
1562696	Pot1	protection of telomeres 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
1562696	Pot1	protection of telomeres 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562696	Pot1	protection of telomeres 1	gene	DOID:4961	bone marrow disease		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:25741868|PMID:28492532|PMID:30523342
1562696	Pot1	protection of telomeres 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cirrhosis	PMID:25741868
1562696	Pot1	protection of telomeres 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1562696	Pot1	protection of telomeres 1	gene	DOID:5940	malignant peripheral nerve sheath tumor		ISO	RGD:1344340	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant peripheral nerve sheath tumor	PMID:25741868|PMID:28492532|PMID:28853721|PMID:32720348|PMID:33050356
1562696	Pot1	protection of telomeres 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532
1562696	Pot1	protection of telomeres 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1562696	Pot1	protection of telomeres 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1562696	Pot1	protection of telomeres 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1344340	D	RGD:152975963|PMID:23907815	20220601	RGD		associated with hepatitis B;DNA:SNP: :rs7784168(human)	
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:7240710	20231004	OMIM			
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30975761|PMID:31919090|PMID:32155570|PMID:33119245|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33119245|PMID:33216348|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:35727838|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:37140166|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36113475|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38688277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:39315505|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:16199547|PMID:17576681|PMID:19461895|PMID:19763152|PMID:20307669|PMID:22406018|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:39315505|PMID:40015989|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:17576681|PMID:24686846|PMID:24686849|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26467025|PMID:27528712|PMID:28492532|PMID:29523635|PMID:29693246|PMID:30414346|PMID:30523342|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33216348|PMID:34193977|PMID:34769003|PMID:35456397|PMID:36539277|PMID:37466057|PMID:38254993|PMID:41564438|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:6846	familial melanoma		ISO	RGD:1344340	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:24686846|PMID:24686849|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26467025|PMID:27528712|PMID:28492532|PMID:29523635|PMID:29693246|PMID:30414346|PMID:30523342|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33216348|PMID:34193977|PMID:34769003|PMID:35456397|PMID:36539277|PMID:37466057|PMID:38254993|PMID:41564438
1562696	Pot1	protection of telomeres 1	gene	DOID:8923	skin melanoma		ISO	RGD:1344340	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:24686846|PMID:25741868|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977|PMID:37140166
1562696	Pot1	protection of telomeres 1	gene	DOID:8923	skin melanoma		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY	PMID:28492532
1562696	Pot1	protection of telomeres 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:24686849|PMID:25252913|PMID:25741868|PMID:28492532|PMID:29625052|PMID:32155570|PMID:36113475|PMID:41564438
1562696	Pot1	protection of telomeres 1	gene	DOID:9000987	Cerebroretinal Microangiopathy with Calcifications and Cysts 3		ISO	RGD:1344340	D	RGD:7240710	20231004	OMIM			
1562696	Pot1	protection of telomeres 1	gene	DOID:9000987	Cerebroretinal Microangiopathy with Calcifications and Cysts 3		ISO	RGD:1344340	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3	PMID:17576681|PMID:24686849|PMID:25482530|PMID:25741868|PMID:26467025|PMID:27329137|PMID:28492532|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29550946|PMID:29625052|PMID:32155570|PMID:33054084|PMID:34193977|PMID:41564438|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9001272	Hoyeraal-Hreidarsson Syndrome		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia with pancytopenia	PMID:24686849|PMID:25252913|PMID:25741868|PMID:28492532|PMID:29625052|PMID:32155570|PMID:36113475|PMID:41564438
1562696	Pot1	protection of telomeres 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1344340	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24686849
1562696	Pot1	protection of telomeres 1	gene	DOID:9004814	Chromosome Aberrations		ISO	RGD:1344340	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23502782
1562696	Pot1	protection of telomeres 1	gene	DOID:9005799	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8		ISO	RGD:1344340	D	RGD:7240710	20231004	OMIM			
1562696	Pot1	protection of telomeres 1	gene	DOID:9005799	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8		ISO	RGD:1344340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29523635|PMID:34193977|PMID:41564438|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:19461895|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26467025|PMID:27329137|PMID:27528712|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:32155570|PMID:32907878|PMID:33216348|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:19461895|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:32155570|PMID:32907878|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:35727838|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19461895|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36387164|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19461895|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36387164|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19461895|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36387164|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:39315505|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19461895|PMID:22722201|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32976206|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:34482403|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36387164|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38540414|PMID:38688277|PMID:39315505|PMID:40015989|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25252913|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29550946|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30523342|PMID:30556179|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:34193977|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36387164|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38688277|PMID:38724174|PMID:38839987|PMID:39315505|PMID:40015989|PMID:41136327|PMID:41564438|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1344340	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25252913|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29550946|PMID:29625052|PMID:29693246|PMID:30414346|PMID:30523342|PMID:30556179|PMID:31685617|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33122293|PMID:33216348|PMID:33525650|PMID:33782098|PMID:34193977|PMID:34769003|PMID:35456397|PMID:35727838|PMID:36113475|PMID:36387164|PMID:36467798|PMID:36539277|PMID:36876055|PMID:37140166|PMID:37466057|PMID:38254993|PMID:38688277|PMID:38724174|PMID:38839987|PMID:39315505|PMID:40015989|PMID:41136327|PMID:41564438|PMID:41686515|PMID:9536098
1562696	Pot1	protection of telomeres 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1562696	Pot1	protection of telomeres 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
1562696	Pot1	protection of telomeres 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1344340	D	RGD:151356943|PMID:32586834	20220218	RGD		DNA:SNP: :rs2975843 (human)	
1562696	Pot1	protection of telomeres 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1344340	D	RGD:151356949|PMID:27459707	20220218	RGD		DNA:SNP: :rs116895242 (human)	
1562696	Pot1	protection of telomeres 1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1344340	D	RGD:151356940|PMID:25194444	20220218	RGD		mRNA:increased expression:colorectum	
1562696	Pot1	protection of telomeres 1	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:1344340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oral mucosa leukoplakia	PMID:25741868|PMID:28492532|PMID:30523342
1562698	Myo18a	myosin XVIIIa	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562698	Myo18a	myosin XVIIIa	gene	DOID:10283	prostate cancer		ISO	RGD:1605490	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1562698	Myo18a	myosin XVIIIa	gene	DOID:10534	stomach cancer		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562698	Myo18a	myosin XVIIIa	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562698	Myo18a	myosin XVIIIa	gene	DOID:1115	sarcoma		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562698	Myo18a	myosin XVIIIa	gene	DOID:1324	lung cancer		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562698	Myo18a	myosin XVIIIa	gene	DOID:1909	melanoma		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562698	Myo18a	myosin XVIIIa	gene	DOID:2352	hemochromatosis		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary hemochromatosis	
1562698	Myo18a	myosin XVIIIa	gene	DOID:3275	thymoma		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562698	Myo18a	myosin XVIIIa	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562698	Myo18a	myosin XVIIIa	gene	DOID:4362	cervical cancer		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562698	Myo18a	myosin XVIIIa	gene	DOID:5041	esophageal cancer		ISO	RGD:1605490	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562698	Myo18a	myosin XVIIIa	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562698	Myo18a	myosin XVIIIa	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562698	Myo18a	myosin XVIIIa	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562698	Myo18a	myosin XVIIIa	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1605490	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:25741868
1562698	Myo18a	myosin XVIIIa	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562698	Myo18a	myosin XVIIIa	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562701	Frem3	FRAS1 related extracellular matrix 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562701	Frem3	FRAS1 related extracellular matrix 3	gene	DOID:1470	major depressive disorder		ISO	RGD:1343703	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26441752
1562701	Frem3	FRAS1 related extracellular matrix 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562702	Eid1	EP300 interacting inhibitor of differentiation 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1348426	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15920167
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:0050998	nonprogressive cerebellar ataxia with mental retardation		ISO	RGD:1318785	D	RGD:7240710	20140911	OMIM			
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:0050998	nonprogressive cerebellar ataxia with mental retardation		ISO	RGD:1318785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAMTA1-related condition | ClinVar Annotator: match by term: CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities | ClinVar Annotator: match by term: cerebellar dysfunction with variable cognitive and behavioral abnormalities	PMID:22693284|PMID:24738973|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29389947|PMID:31957018|PMID:32157189|PMID:33131045|PMID:33677721
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:0060249	scoliosis		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:0060326	myelomeningocele		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelomeningocele	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:0060811	syndromic X-linked intellectual disability Turner type		ISO	RGD:1318785	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:0081443	Stolerman neurodevelopmental syndrome		ISO	RGD:1318785	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318785	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:25741868|PMID:28492532
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:10892	hypospadias		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:1115	sarcoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:11782	astigmatism		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:11830	myopia		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:1324	lung cancer		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:2468	psychotic disorder		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:3275	thymoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:4448	macular degeneration		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular degeneration	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318785	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:5723	optic atrophy		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:630	genetic disease		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22693284|PMID:25741868|PMID:28492532|PMID:33131045|PMID:33677721|PMID:34906502
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:8619	recurrent hypersomnia		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypersomnia	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type II malformation	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318785	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1562703	Camta1	calmodulin binding transcription activator 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1318785	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1562705	Shf	Src homology 2 domain containing F	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562705	Shf	Src homology 2 domain containing F	gene	DOID:10534	stomach cancer		ISO	RGD:1602197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562705	Shf	Src homology 2 domain containing F	gene	DOID:1115	sarcoma		ISO	RGD:1602197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562705	Shf	Src homology 2 domain containing F	gene	DOID:1324	lung cancer		ISO	RGD:1602197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562705	Shf	Src homology 2 domain containing F	gene	DOID:5041	esophageal cancer		ISO	RGD:1602197	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562705	Shf	Src homology 2 domain containing F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562708	Scfd2	sec1 family domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562708	Scfd2	sec1 family domain containing 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348082	D	RGD:8554872	20230815	ClinVar		ClinVar Annotator: match by term: Autism, susceptiblity to	PMID:25741868
1562708	Scfd2	sec1 family domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562708	Scfd2	sec1 family domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1348082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562708	Scfd2	sec1 family domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1348082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562708	Scfd2	sec1 family domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562708	Scfd2	sec1 family domain containing 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1348082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1562708	Scfd2	sec1 family domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562708	Scfd2	sec1 family domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562708	Scfd2	sec1 family domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562708	Scfd2	sec1 family domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562710	Nmb	neuromedin B	gene	DOID:1324	lung cancer		ISO	RGD:1315040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562710	Nmb	neuromedin B	gene	DOID:9006202	Pruritus		ISO	RGD:1315040	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:29669290
1562710	Nmb	neuromedin B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562710	Nmb	neuromedin B	gene	DOID:9970	obesity		IEP		D	RGD:1642063|PMID:1709601	20070830	RGD		protein:increased expression:central hypothalamus:concentrations higher in obese (fa/fa) than in lean (Fa/?) male Zucker rats, not affected by weight loss	
1562710	Nmb	neuromedin B	gene	DOID:9970	obesity		ISO	RGD:1315040	D	RGD:1642062|PMID:11194934	20070830	RGD			
1562710	Nmb	neuromedin B	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1315040	D	RGD:1642059|PMID:15585758	20070830	RGD			
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0050952	spastic ataxia		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:22833003|PMID:25059390|PMID:25741868|PMID:26354221|PMID:28492532|PMID:33190326|PMID:34445196
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0060787	hypomyelinating leukodystrophy 2		ISO	RGD:1346209	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:18571143
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0060787	hypomyelinating leukodystrophy 2		ISO	RGD:1346209	D	RGD:13208525|PMID:15192806	20170809	RGD		DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human)	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0060787	hypomyelinating leukodystrophy 2		ISO	RGD:1346209	D	RGD:13208526|PMID:21959080	20170809	RGD		DNA:snp:5' utr:c.-167A>G (human)	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0060787	hypomyelinating leukodystrophy 2		ISO	RGD:1346209	D	RGD:13208580|PMID:16707726	20170814	RGD		DNA:missense mutation, frameshift mutations:cds:p.G236S, p.P131fs144X, p.L281fs285X (human)	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0060787	hypomyelinating leukodystrophy 2		ISO	RGD:1346209	D	RGD:13208581|PMID:18094336	20170814	RGD		DNA:mutations:multiple (human)	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0060787	hypomyelinating leukodystrophy 2		ISO	RGD:1346209	D	RGD:7240710	20130221	OMIM			
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0060787	hypomyelinating leukodystrophy 2		ISO	RGD:1346209	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 2 | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 | ClinVar Annotator: match by term: PELIZAEUS-MERZBACHER-LIKE DISEASE, 1	PMID:15192806|PMID:16707726|PMID:17344063|PMID:18094336|PMID:20442743|PMID:20695017|PMID:21246605|PMID:21959080|PMID:22283455|PMID:22833003|PMID:23142375|PMID:23544880|PMID:2368670|PMID:24374284|PMID:25059390|PMID:25741868|PMID:26354221|PMID:27057822|PMID:27780564|PMID:28492532|PMID:29389947|PMID:31270756|PMID:31912665|PMID:32488064|PMID:33190326|PMID:34055681|PMID:34445196|PMID:38374194
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0060787	hypomyelinating leukodystrophy 2		ISO	RGD:1623025	D	RGD:13208533|PMID:21750683	20170810	RGD		DNA:missense mutation:cds:p.M282T (mouse)	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0060787	hypomyelinating leukodystrophy 2		ISS	RGD:1623025	D	RGD:13592920	20230718	MouseDO		OMIM:608804	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0070208	hereditary lymphedema IC		ISO	RGD:1346209	D	RGD:7240710	20130221	OMIM			
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0070208	hereditary lymphedema IC		ISO	RGD:1346209	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 3 | ClinVar Annotator: match by term: Lymphatic malformation 3	PMID:25741868|PMID:27057822|PMID:28492532|PMID:34055681
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0110796	hereditary spastic paraplegia 44		ISO	RGD:1346209	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0110796	hereditary spastic paraplegia 44		ISO	RGD:1346209	D	RGD:13208577|PMID:19056803	20170814	RGD		DNA:missense mutation:cds:p.I33M (human)	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0110796	hereditary spastic paraplegia 44		ISO	RGD:1346209	D	RGD:7240710	20130425	OMIM			
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:0110796	hereditary spastic paraplegia 44		ISO	RGD:1346209	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 44 | ClinVar Annotator: match by term: Spastic paraplegia 44, autosomal recessive	PMID:18094336|PMID:20695017|PMID:21246605|PMID:21959080|PMID:23142375|PMID:24374284|PMID:25741868|PMID:27057822|PMID:27780564|PMID:28492532|PMID:34055681
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:1059	intellectual disability		ISO	RGD:1346209	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:32581362
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:12849	autistic disorder		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:14330	Parkinson's disease	treatment	IEP		D	RGD:13208520|PMID:21561882	20170809	RGD			
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:1909	melanoma		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1346209	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:26467025|PMID:28492532
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:3210	Pelizaeus-Merzbacher disease		ISO	RGD:1346209	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease	PMID:15192806|PMID:25741868|PMID:28492532|PMID:31319225
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1623025	D	RGD:13208591|PMID:24597481	20170814	RGD		protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse)	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:4977	lymphedema		ISO	RGD:1346209	D	RGD:13208589|PMID:21266381	20170814	RGD		DNA:missense mutations:cds:p.S48L, p.M210R (human)	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:4977	lymphedema		ISO	RGD:1346209	D	RGD:13208590|PMID:20537300	20170814	RGD		DNA:missense mutations:cds:multiple (human)	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:607	paraplegia		ISO	RGD:1346209	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:15192806|PMID:17576681|PMID:18094336|PMID:20442743|PMID:20513814|PMID:20537300|PMID:20695017|PMID:21246605|PMID:21959080|PMID:22351697|PMID:22833003|PMID:23142375|PMID:23143715|PMID:23544880|PMID:24374284|PMID:25059390|PMID:25741868|PMID:26467025|PMID:27057822|PMID:27780564|PMID:28492532|PMID:29141312|PMID:29451896|PMID:29906362|PMID:31270756|PMID:31912665|PMID:33190326|PMID:33547378|PMID:34055681|PMID:34445196|PMID:38374194|PMID:7057822|PMID:9536098
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:630	genetic disease		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22351697|PMID:25741868|PMID:28492532|PMID:29906362
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	IEP		D	RGD:13208513|PMID:26415641	20170809	RGD			
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:9000495	Tremor		ISO	RGD:1346209	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:25741868
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:26354221
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1623025	D	RGD:13208593|PMID:22461072	20170814	RGD		protein:decreased expression:white matter of spinal cord, gap junction (mouse)	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:9003208	Progressive Psychomotor Deterioration		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive psychomotor deterioration	PMID:15192806|PMID:18094336|PMID:25741868|PMID:28492532|PMID:31270756|PMID:38374194
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:9004866	Ataxia		ISO	RGD:1346209	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:27057822|PMID:28492532|PMID:34055681
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346209	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:15192806|PMID:18094336|PMID:25741868|PMID:28492532|PMID:31270756|PMID:38374194
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27057822|PMID:28492532|PMID:34055681
1562712	Gjc2	gap junction protein, gamma 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1346209	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: Pendular nystagmus	PMID:25741868|PMID:26354221|PMID:27057822|PMID:28492532|PMID:34055681
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:1909	melanoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1349467	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:289	endometriosis		ISO	RGD:1349467	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:3275	thymoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1349467	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562717	Abi3bp	ABI family member 3 binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562720	Spmip9	sperm microtubule inner protein 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562720	Spmip9	sperm microtubule inner protein 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562726	Epcip	exosomal polycystin 1 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1343736	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562726	Epcip	exosomal polycystin 1 interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1343736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562726	Epcip	exosomal polycystin 1 interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1343736	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562726	Epcip	exosomal polycystin 1 interacting protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562735	Bcor	BCL6 co-repressor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1562735	Bcor	BCL6 co-repressor	gene	DOID:0050581	brachydactyly		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
1562735	Bcor	BCL6 co-repressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562735	Bcor	BCL6 co-repressor	gene	DOID:0060673	Peters anomaly		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	
1562735	Bcor	BCL6 co-repressor	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1606540	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1562735	Bcor	BCL6 co-repressor	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adenoid cystic carcinoma	
1562735	Bcor	BCL6 co-repressor	gene	DOID:0080613	anterior segment dysgenesis 8		ISO	RGD:1606540	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Anterior segment dysgenesis 8	PMID:25741868
1562735	Bcor	BCL6 co-repressor	gene	DOID:0080878	IDH-wildtype glioblastoma		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IDH-wildtype glioblastoma	PMID:24705251|PMID:27425854|PMID:27993330|PMID:28912153|PMID:28966033|PMID:29763623|PMID:35332262
1562735	Bcor	BCL6 co-repressor	gene	DOID:0080880	diffuse glioma, H3 G34 mutant		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse glioma, H3 G34 mutant	PMID:24705251|PMID:27993330|PMID:28912153|PMID:28966033|PMID:29763623|PMID:33945606|PMID:35015684
1562735	Bcor	BCL6 co-repressor	gene	DOID:0081254	posterior fossa group A ependymoma		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Posterior fossa group A ependymoma	PMID:23592488|PMID:27993330|PMID:28007021|PMID:31693904|PMID:34301788|PMID:35100716
1562735	Bcor	BCL6 co-repressor	gene	DOID:0111799	syndromic microphthalmia 1		ISO	RGD:1606540	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1562735	Bcor	BCL6 co-repressor	gene	DOID:0111799	syndromic microphthalmia 1		ISO	RGD:1606540	D	RGD:1600504|PMID:15004558	20150728	RGD		DNA:missense mutation:exon:254C>T (p.P85L) (human)	
1562735	Bcor	BCL6 co-repressor	gene	DOID:0111807	syndromic microphthalmia 9		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome	
1562735	Bcor	BCL6 co-repressor	gene	DOID:0111809	syndromic microphthalmia 2		ISO	RGD:1606540	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17517692
1562735	Bcor	BCL6 co-repressor	gene	DOID:0111809	syndromic microphthalmia 2		ISO	RGD:1606540	D	RGD:1600504|PMID:15004558	20221028	RGD		DNA:mutations:cds:	
1562735	Bcor	BCL6 co-repressor	gene	DOID:0111809	syndromic microphthalmia 2		ISO	RGD:1606540	D	RGD:7240710	20130221	OMIM			
1562735	Bcor	BCL6 co-repressor	gene	DOID:0111809	syndromic microphthalmia 2		ISO	RGD:1606540	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BCOR-related condition | ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 2 | ClinVar Annotator: match by term: Microphthalmia, syndromic 2 | ClinVar Annotator: match by term: Oculofaciocardiodental syndrome | ClinVar Annotator: match by term: microphthalmia, syndromic 2	PMID:14608648|PMID:15004558|PMID:15770227|PMID:16199547|PMID:18414213|PMID:19367324|PMID:21740180|PMID:22012066|PMID:22983184|PMID:23557072|PMID:24047651|PMID:24436047|PMID:24705251|PMID:25326637|PMID:25620158|PMID:25741868|PMID:25768946|PMID:26138366|PMID:26633542|PMID:26694549|PMID:27993330|PMID:28317252|PMID:28492532|PMID:28827447|PMID:28912153|PMID:28966033|PMID:29058245|PMID:29663558|PMID:29763623|PMID:29974297|PMID:30333627|PMID:31048080|PMID:34166060|PMID:36314054|PMID:36980880|PMID:38177409
1562735	Bcor	BCL6 co-repressor	gene	DOID:0111809	syndromic microphthalmia 2		ISS	RGD:1557301	D	RGD:13592920	20230718	MouseDO		OMIM:300166	
1562735	Bcor	BCL6 co-repressor	gene	DOID:10534	stomach cancer		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562735	Bcor	BCL6 co-repressor	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1606540	D	RGD:150340707|PMID:33145269	20210830	RGD			
1562735	Bcor	BCL6 co-repressor	gene	DOID:1059	intellectual disability		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1562735	Bcor	BCL6 co-repressor	gene	DOID:10629	microphthalmia		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	
1562735	Bcor	BCL6 co-repressor	gene	DOID:12271	aniridia		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital aniridia	
1562735	Bcor	BCL6 co-repressor	gene	DOID:13207	proliferative diabetic retinopathy	susceptibility	ISO	RGD:1606540	D	RGD:155631276|PMID:26248552	20221031	RGD		associated with type 1 diabetes mellitus;DNA:hypomethylation:5'UTR	
1562735	Bcor	BCL6 co-repressor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1562735	Bcor	BCL6 co-repressor	gene	DOID:1686	glaucoma		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	
1562735	Bcor	BCL6 co-repressor	gene	DOID:2154	nephroblastoma		ISO	RGD:1606540	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
1562735	Bcor	BCL6 co-repressor	gene	DOID:216	dental caries	susceptibility	ISO	RGD:1606540	D	RGD:155631274|PMID:23470693	20221028	RGD		DNA:SNP: : rs17145638(human)	
1562735	Bcor	BCL6 co-repressor	gene	DOID:2340	craniosynostosis		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
1562735	Bcor	BCL6 co-repressor	gene	DOID:2725	capillary hemangioma		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	
1562735	Bcor	BCL6 co-repressor	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1606540	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29376028
1562735	Bcor	BCL6 co-repressor	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:24436047|PMID:25768946|PMID:26138366|PMID:27993330|PMID:34166060
1562735	Bcor	BCL6 co-repressor	gene	DOID:3347	osteosarcoma		ISO	RGD:1606540	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22387997
1562735	Bcor	BCL6 co-repressor	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ewing sarcoma	PMID:24805859|PMID:25360585|PMID:27993330|PMID:31150281|PMID:34103053|PMID:34333045|PMID:35100716
1562735	Bcor	BCL6 co-repressor	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma	PMID:26138366|PMID:27993330|PMID:34166060
1562735	Bcor	BCL6 co-repressor	gene	DOID:4233	clear cell sarcoma		ISO	RGD:1606540	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098867
1562735	Bcor	BCL6 co-repressor	gene	DOID:4362	cervical cancer		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562735	Bcor	BCL6 co-repressor	gene	DOID:5517	stomach carcinoma	disease_progression	ISO	RGD:1606540	D	RGD:150340706|PMID:27313181	20210830	RGD			
1562735	Bcor	BCL6 co-repressor	gene	DOID:552	pneumonia		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	
1562735	Bcor	BCL6 co-repressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562735	Bcor	BCL6 co-repressor	gene	DOID:630	genetic disease		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1562735	Bcor	BCL6 co-repressor	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1562735	Bcor	BCL6 co-repressor	gene	DOID:83	cataract		ISO	RGD:1606540	D	RGD:1600504|PMID:15004558	20221028	RGD		DNA:mutations:cds:	
1562735	Bcor	BCL6 co-repressor	gene	DOID:83	cataract		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital Cataract	
1562735	Bcor	BCL6 co-repressor	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iris coloboma	
1562735	Bcor	BCL6 co-repressor	gene	DOID:9002049	Anophthalmia		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anophthalmia	
1562735	Bcor	BCL6 co-repressor	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1606540	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098867
1562735	Bcor	BCL6 co-repressor	gene	DOID:9004992	Apnea		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	
1562735	Bcor	BCL6 co-repressor	gene	DOID:9005077	Joint Instability		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1562735	Bcor	BCL6 co-repressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1562735	Bcor	BCL6 co-repressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606540	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562735	Bcor	BCL6 co-repressor	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1606540	D	RGD:150340704|PMID:27880939	20210830	RGD			
1562735	Bcor	BCL6 co-repressor	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1606540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:25741868
1562741	Otoa	otoancorin	gene	DOID:0050439	Usher syndrome		ISO	RGD:1348640	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Usher's syndrome	PMID:23173898|PMID:24033266|PMID:25741868|PMID:28492532
1562741	Otoa	otoancorin	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1348640	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness	PMID:24033266|PMID:25741868|PMID:28492532
1562741	Otoa	otoancorin	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1348640	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:24033266|PMID:28492532
1562741	Otoa	otoancorin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562741	Otoa	otoancorin	gene	DOID:0080833	laryngomalacia		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:28492532
1562741	Otoa	otoancorin	gene	DOID:0110480	autosomal recessive nonsyndromic deafness 22		ISO	RGD:1348640	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562741	Otoa	otoancorin	gene	DOID:0110480	autosomal recessive nonsyndromic deafness 22		ISO	RGD:1348640	D	RGD:7240710	20130221	OMIM			
1562741	Otoa	otoancorin	gene	DOID:0110480	autosomal recessive nonsyndromic deafness 22		ISO	RGD:1348640	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 22 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 22 | ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition	PMID:11972037|PMID:16199547|PMID:17576681|PMID:23173898|PMID:24033266|PMID:24963352|PMID:25373420|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532|PMID:29044474|PMID:29196752|PMID:30311386|PMID:30740825|PMID:30828794|PMID:31152317|PMID:31527525|PMID:31827275|PMID:33597575|PMID:33879512|PMID:34416374|PMID:34519870|PMID:35802133|PMID:36633841|PMID:37114731|PMID:9536098
1562741	Otoa	otoancorin	gene	DOID:0110480	autosomal recessive nonsyndromic deafness 22		ISS	RGD:1620548	D	RGD:13592920	20230718	MouseDO		OMIM:607039	
1562741	Otoa	otoancorin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
1562741	Otoa	otoancorin	gene	DOID:10534	stomach cancer		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562741	Otoa	otoancorin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348640	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:24033266|PMID:28492532
1562741	Otoa	otoancorin	gene	DOID:11111	hydronephrosis		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:28492532
1562741	Otoa	otoancorin	gene	DOID:11383	cryptorchidism		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:28492532
1562741	Otoa	otoancorin	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	PMID:28492532
1562741	Otoa	otoancorin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562741	Otoa	otoancorin	gene	DOID:3070	high grade glioma		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562741	Otoa	otoancorin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562741	Otoa	otoancorin	gene	DOID:630	genetic disease		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26969326|PMID:28492532|PMID:38844983
1562741	Otoa	otoancorin	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:28492532
1562741	Otoa	otoancorin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348640	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:24033266|PMID:25741868|PMID:28492532
1562741	Otoa	otoancorin	gene	DOID:9007817	Macroglossia		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:28492532
1562741	Otoa	otoancorin	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss		ISO	RGD:1348640	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nonsyndromic sensorineural hearing loss	PMID:25741868
1562741	Otoa	otoancorin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562741	Otoa	otoancorin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562743	Igkc	immunoglobulin kappa constant	gene	DOID:0080600	COVID-19		ISO	RGD:1345887	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1562743	Igkc	immunoglobulin kappa constant	gene	DOID:11702	dysgammaglobulinemia		ISO	RGD:1345887	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:3931219
1562743	Igkc	immunoglobulin kappa constant	gene	DOID:633	myositis		ISO	RGD:1345887	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18821675
1562743	Igkc	immunoglobulin kappa constant	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1345887	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1562743	Igkc	immunoglobulin kappa constant	gene	DOID:9007079	IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY		ISO	RGD:1345887	D	RGD:7240710	20171011	OMIM			
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:0080706	medulloblastoma non-WNT/non-SHH		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH	PMID:27993330
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:22820256|PMID:25030029|PMID:27993330
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:0080708	medulloblastoma non-WNT/non-SHH group 4		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 4	PMID:22820256|PMID:25030029|PMID:27993330
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:1115	sarcoma		ISO	RGD:1317604	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:1909	melanoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:3275	thymoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317604	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562746	Gps2	G protein pathway suppressor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562747	Eola1	endothelium and lymphocyte associated ASCH domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562747	Eola1	endothelium and lymphocyte associated ASCH domain 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1344025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer)	
1562747	Eola1	endothelium and lymphocyte associated ASCH domain 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562747	Eola1	endothelium and lymphocyte associated ASCH domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562747	Eola1	endothelium and lymphocyte associated ASCH domain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344025	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562747	Eola1	endothelium and lymphocyte associated ASCH domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562747	Eola1	endothelium and lymphocyte associated ASCH domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562749	Ctnnbip1	catenin, beta-interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1350422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562749	Ctnnbip1	catenin, beta-interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1350422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562749	Ctnnbip1	catenin, beta-interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562762	Cimip2a	ciliary microtubule inner protein 2A	gene	DOID:2394	ovarian cancer		ISO	RGD:1603805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1562762	Cimip2a	ciliary microtubule inner protein 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562767	Lypd6b	Ly6/Plaur domain containing 6B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562767	Lypd6b	Ly6/Plaur domain containing 6B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562767	Lypd6b	Ly6/Plaur domain containing 6B	gene	DOID:4362	cervical cancer		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562767	Lypd6b	Ly6/Plaur domain containing 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562767	Lypd6b	Ly6/Plaur domain containing 6B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562767	Lypd6b	Ly6/Plaur domain containing 6B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562767	Lypd6b	Ly6/Plaur domain containing 6B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562767	Lypd6b	Ly6/Plaur domain containing 6B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562768	Zfp711	zinc finger protein 711	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1562768	Zfp711	zinc finger protein 711	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562768	Zfp711	zinc finger protein 711	gene	DOID:0060870	isolated growth hormone deficiency		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Growth hormone deficiency	PMID:19377476|PMID:25741868|PMID:27993705
1562768	Zfp711	zinc finger protein 711	gene	DOID:0112046	non-syndromic X-linked intellectual disability 97		ISO	RGD:1347410	D	RGD:7240710	20141015	OMIM			
1562768	Zfp711	zinc finger protein 711	gene	DOID:0112046	non-syndromic X-linked intellectual disability 97		ISO	RGD:1347410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 | ClinVar Annotator: match by term: ZNF711-related disorder	PMID:25741868|PMID:28454995|PMID:28492532
1562768	Zfp711	zinc finger protein 711	gene	DOID:10534	stomach cancer		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562768	Zfp711	zinc finger protein 711	gene	DOID:1059	intellectual disability		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1562768	Zfp711	zinc finger protein 711	gene	DOID:1115	sarcoma		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562768	Zfp711	zinc finger protein 711	gene	DOID:12849	autistic disorder		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1562768	Zfp711	zinc finger protein 711	gene	DOID:1324	lung cancer		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562768	Zfp711	zinc finger protein 711	gene	DOID:1826	epilepsy		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1562768	Zfp711	zinc finger protein 711	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562768	Zfp711	zinc finger protein 711	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562768	Zfp711	zinc finger protein 711	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562768	Zfp711	zinc finger protein 711	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562768	Zfp711	zinc finger protein 711	gene	DOID:630	genetic disease		ISO	RGD:1347410	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1562768	Zfp711	zinc finger protein 711	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1562768	Zfp711	zinc finger protein 711	gene	DOID:9005077	Joint Instability		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1562768	Zfp711	zinc finger protein 711	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1347410	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19377476
1562768	Zfp711	zinc finger protein 711	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562768	Zfp711	zinc finger protein 711	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1562768	Zfp711	zinc finger protein 711	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1562768	Zfp711	zinc finger protein 711	gene	DOID:936	brain disease		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
1562768	Zfp711	zinc finger protein 711	gene	DOID:9970	obesity		ISO	RGD:1347410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1562772	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562772	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562772	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562772	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562772	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562772	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562772	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562772	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562772	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562772	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562772	Ppef1	protein phosphatase with EF-hand domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562777	Bcl2l14	Bcl2-like 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562777	Bcl2l14	Bcl2-like 14	gene	DOID:10286	prostate carcinoma		ISO	RGD:1603380	D	RGD:2315712|PMID:14999772	20100108	RGD		mRNA:decreased expression:prostate gland	
1562777	Bcl2l14	Bcl2-like 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562777	Bcl2l14	Bcl2-like 14	gene	DOID:1909	melanoma		ISO	RGD:1603380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562777	Bcl2l14	Bcl2-like 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562777	Bcl2l14	Bcl2-like 14	gene	DOID:4362	cervical cancer		ISO	RGD:1603380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562777	Bcl2l14	Bcl2-like 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562778	Trim72	tripartite motif containing 72	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562778	Trim72	tripartite motif containing 72	gene	DOID:1115	sarcoma		ISO	RGD:1603795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562779	Lvrn	laeverin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562779	Lvrn	laeverin	gene	DOID:10534	stomach cancer		ISO	RGD:1604505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562779	Lvrn	laeverin	gene	DOID:1115	sarcoma		ISO	RGD:1604505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562779	Lvrn	laeverin	gene	DOID:1324	lung cancer		ISO	RGD:1604505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562779	Lvrn	laeverin	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1562779	Lvrn	laeverin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562779	Lvrn	laeverin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562784	Hnrnpul2	heterogeneous nuclear ribonucleoprotein U-like 2	gene	DOID:12849	autistic disorder		ISO	RGD:1606938	D	RGD:11554173	20221101	CTD		CTD Direct Evidence: marker/mechanism	PMID:35982159
1562788	Srbd1	S1 RNA binding domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562788	Srbd1	S1 RNA binding domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562788	Srbd1	S1 RNA binding domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562788	Srbd1	S1 RNA binding domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562788	Srbd1	S1 RNA binding domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562788	Srbd1	S1 RNA binding domain 1	gene	DOID:3070	high grade glioma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562788	Srbd1	S1 RNA binding domain 1	gene	DOID:3275	thymoma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562788	Srbd1	S1 RNA binding domain 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562788	Srbd1	S1 RNA binding domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562788	Srbd1	S1 RNA binding domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602705	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562788	Srbd1	S1 RNA binding domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562788	Srbd1	S1 RNA binding domain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562788	Srbd1	S1 RNA binding domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562788	Srbd1	S1 RNA binding domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562791	Icoslg	inducible T-cell co-stimulator ligand	gene	DOID:0061085	immunodeficiency 119		ISO	RGD:1354040	D	RGD:7240710	20250305	OMIM			
1562791	Icoslg	inducible T-cell co-stimulator ligand	gene	DOID:0061085	immunodeficiency 119		ISO	RGD:1354040	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 119	PMID:28492532|PMID:30498080|PMID:34694545
1562791	Icoslg	inducible T-cell co-stimulator ligand	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1354040	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868|PMID:30498080
1562791	Icoslg	inducible T-cell co-stimulator ligand	gene	DOID:10608	celiac disease		ISO	RGD:1354040	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20190752
1562791	Icoslg	inducible T-cell co-stimulator ligand	gene	DOID:1324	lung cancer		ISO	RGD:1354040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562791	Icoslg	inducible T-cell co-stimulator ligand	gene	DOID:5041	esophageal cancer		ISO	RGD:1354040	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562791	Icoslg	inducible T-cell co-stimulator ligand	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1354040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1562791	Icoslg	inducible T-cell co-stimulator ligand	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562791	Icoslg	inducible T-cell co-stimulator ligand	gene	DOID:630	genetic disease		ISO	RGD:1354040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1562791	Icoslg	inducible T-cell co-stimulator ligand	gene	DOID:8577	ulcerative colitis		ISO	RGD:1354040	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799
1562791	Icoslg	inducible T-cell co-stimulator ligand	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1354040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1562791	Icoslg	inducible T-cell co-stimulator ligand	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562792	Tdrd12	tudor domain containing 12	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:2292096	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868|PMID:39122675
1562792	Tdrd12	tudor domain containing 12	gene	DOID:12336	male infertility		ISO	RGD:2292096	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868|PMID:39122675
1562792	Tdrd12	tudor domain containing 12	gene	DOID:1324	lung cancer		ISO	RGD:2292096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562792	Tdrd12	tudor domain containing 12	gene	DOID:4362	cervical cancer		ISO	RGD:2292096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562792	Tdrd12	tudor domain containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2292096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562795	Lime1	Lck interacting transmembrane adaptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562795	Lime1	Lck interacting transmembrane adaptor 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1603039	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
1562795	Lime1	Lck interacting transmembrane adaptor 1	gene	DOID:1909	melanoma		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562795	Lime1	Lck interacting transmembrane adaptor 1	gene	DOID:3275	thymoma		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562795	Lime1	Lck interacting transmembrane adaptor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562795	Lime1	Lck interacting transmembrane adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562795	Lime1	Lck interacting transmembrane adaptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562795	Lime1	Lck interacting transmembrane adaptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562795	Lime1	Lck interacting transmembrane adaptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562795	Lime1	Lck interacting transmembrane adaptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562797	Cep192	centrosomal protein 192	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562797	Cep192	centrosomal protein 192	gene	DOID:0060058	lymphoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562797	Cep192	centrosomal protein 192	gene	DOID:10534	stomach cancer		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562797	Cep192	centrosomal protein 192	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562797	Cep192	centrosomal protein 192	gene	DOID:1115	sarcoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562797	Cep192	centrosomal protein 192	gene	DOID:1324	lung cancer		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562797	Cep192	centrosomal protein 192	gene	DOID:1909	melanoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562797	Cep192	centrosomal protein 192	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562797	Cep192	centrosomal protein 192	gene	DOID:3275	thymoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562797	Cep192	centrosomal protein 192	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562797	Cep192	centrosomal protein 192	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562797	Cep192	centrosomal protein 192	gene	DOID:4362	cervical cancer		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562797	Cep192	centrosomal protein 192	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562797	Cep192	centrosomal protein 192	gene	DOID:5041	esophageal cancer		ISO	RGD:1605669	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562797	Cep192	centrosomal protein 192	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562797	Cep192	centrosomal protein 192	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562797	Cep192	centrosomal protein 192	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562797	Cep192	centrosomal protein 192	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562797	Cep192	centrosomal protein 192	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562797	Cep192	centrosomal protein 192	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562797	Cep192	centrosomal protein 192	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562799	Cylc2	cylicin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562799	Cylc2	cylicin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344761	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562813	Cbln1	cerebellin 1 precursor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562823	Rps19bp1	ribosomal protein S19 binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1602664	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562823	Rps19bp1	ribosomal protein S19 binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1602664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562823	Rps19bp1	ribosomal protein S19 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562825	Chst13	carbohydrate sulfotransferase 13	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347829	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1562825	Chst13	carbohydrate sulfotransferase 13	gene	DOID:0080600	COVID-19		ISO	RGD:1347829	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:1115	sarcoma		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:1324	lung cancer		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:1909	melanoma		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:3275	thymoma		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1605007	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562826	Sppl3	signal peptide peptidase like 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1605007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562829	Rerg	RAS-like, estrogen-regulated, growth-inhibitor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562829	Rerg	RAS-like, estrogen-regulated, growth-inhibitor	gene	DOID:1612	breast cancer	severity	ISO	RGD:1349252	D	RGD:1304529|PMID:11533059	19990101	RGD		mRNA:increased expression:breast (human)	
1562829	Rerg	RAS-like, estrogen-regulated, growth-inhibitor	gene	DOID:1909	melanoma		ISO	RGD:1349252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562829	Rerg	RAS-like, estrogen-regulated, growth-inhibitor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562829	Rerg	RAS-like, estrogen-regulated, growth-inhibitor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349252	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562830	Arl8b	ARF like GTPase 8B	gene	DOID:10534	stomach cancer		ISO	RGD:1351870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562830	Arl8b	ARF like GTPase 8B	gene	DOID:1115	sarcoma		ISO	RGD:1351870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562830	Arl8b	ARF like GTPase 8B	gene	DOID:1324	lung cancer		ISO	RGD:1351870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562830	Arl8b	ARF like GTPase 8B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562830	Arl8b	ARF like GTPase 8B	gene	DOID:3275	thymoma		ISO	RGD:1351870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562830	Arl8b	ARF like GTPase 8B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351870	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562830	Arl8b	ARF like GTPase 8B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562830	Arl8b	ARF like GTPase 8B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562836	Mgat4b	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562836	Mgat4b	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:10534	stomach cancer		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562836	Mgat4b	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:1115	sarcoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562836	Mgat4b	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562836	Mgat4b	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:4362	cervical cancer		ISO	RGD:1602226	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562836	Mgat4b	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562836	Mgat4b	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562836	Mgat4b	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562836	Mgat4b	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:6039	uveal melanoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1562836	Mgat4b	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1562836	Mgat4b	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562836	Mgat4b	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:9003566	Mesothelioma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1562836	Mgat4b	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562836	Mgat4b	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562837	Sema4c	semaphorin 4C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562837	Sema4c	semaphorin 4C	gene	DOID:0080600	COVID-19		ISO	RGD:1354487	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1562837	Sema4c	semaphorin 4C	gene	DOID:1115	sarcoma		ISO	RGD:1354487	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562837	Sema4c	semaphorin 4C	gene	DOID:1324	lung cancer		ISO	RGD:1354487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562837	Sema4c	semaphorin 4C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562837	Sema4c	semaphorin 4C	gene	DOID:5041	esophageal cancer		ISO	RGD:1354487	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562837	Sema4c	semaphorin 4C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562837	Sema4c	semaphorin 4C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562837	Sema4c	semaphorin 4C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562840	Msantd2	Myb/SANT DNA binding domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562840	Msantd2	Myb/SANT DNA binding domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562840	Msantd2	Myb/SANT DNA binding domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562840	Msantd2	Myb/SANT DNA binding domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562846	Dok5	docking protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562846	Dok5	docking protein 5	gene	DOID:3275	thymoma		ISO	RGD:1343098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562846	Dok5	docking protein 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562846	Dok5	docking protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562846	Dok5	docking protein 5	gene	DOID:9003566	Mesothelioma		ISO	RGD:1343098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1562846	Dok5	docking protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562852	Stra8	stimulated by retinoic acid 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562852	Stra8	stimulated by retinoic acid 8	gene	DOID:1324	lung cancer		ISO	RGD:1604701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562852	Stra8	stimulated by retinoic acid 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562852	Stra8	stimulated by retinoic acid 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562852	Stra8	stimulated by retinoic acid 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562857	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604636	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562857	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562857	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562857	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:3275	thymoma		ISO	RGD:1604636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562857	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562857	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604636	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562857	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562857	Phlpp2	PH domain and leucine rich repeat protein phosphatase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:1909	melanoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:3070	high grade glioma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604048	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562860	Sel1l3	SEL1L family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562861	Taok3	TAO kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562861	Taok3	TAO kinase 3	gene	DOID:10283	prostate cancer		ISO	RGD:1605388	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1562861	Taok3	TAO kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562861	Taok3	TAO kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562861	Taok3	TAO kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1605388	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562861	Taok3	TAO kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562861	Taok3	TAO kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562861	Taok3	TAO kinase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562861	Taok3	TAO kinase 3	gene	DOID:3275	thymoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562861	Taok3	TAO kinase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562861	Taok3	TAO kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562861	Taok3	TAO kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1605388	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562861	Taok3	TAO kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562861	Taok3	TAO kinase 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1562861	Taok3	TAO kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562861	Taok3	TAO kinase 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605388	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1562861	Taok3	TAO kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562861	Taok3	TAO kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562864	Pcdh11x	protocadherin 11 X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562864	Pcdh11x	protocadherin 11 X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562864	Pcdh11x	protocadherin 11 X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1353305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562864	Pcdh11x	protocadherin 11 X-linked	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1353305	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19136949
1562864	Pcdh11x	protocadherin 11 X-linked	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1353305	D	RGD:8554872	20180410	ClinVar		ClinVar Annotator: match by term: Alzheimer disease	PMID:29476165
1562864	Pcdh11x	protocadherin 11 X-linked	gene	DOID:1115	sarcoma		ISO	RGD:1353305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562864	Pcdh11x	protocadherin 11 X-linked	gene	DOID:1324	lung cancer		ISO	RGD:1353305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562864	Pcdh11x	protocadherin 11 X-linked	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562864	Pcdh11x	protocadherin 11 X-linked	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562864	Pcdh11x	protocadherin 11 X-linked	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562864	Pcdh11x	protocadherin 11 X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:0111954	immunodeficiency 60		ISO	RGD:1319503	D	RGD:7240710	20190515	OMIM			
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:0111954	immunodeficiency 60		ISO	RGD:1319503	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BACH2-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 60 AND AUTOIMMUNITY | ClinVar Annotator: match by term: Immunodeficiency 60 | ClinVar Annotator: match by term: immunodeficiency 60	PMID:25741868|PMID:28492532|PMID:28530713
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:10608	celiac disease		ISO	RGD:1319503	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20190752
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:1115	sarcoma		ISO	RGD:1319503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:12306	vitiligo		ISO	RGD:1319503	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561518
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:1909	melanoma		ISO	RGD:1319503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1319503	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21102463
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319503	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21441929
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562865	Bach2	BACH transcriptional regulator 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1319503	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18978792
1562866	Kxd1	KxDL motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562866	Kxd1	KxDL motif containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1601969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562866	Kxd1	KxDL motif containing 1	gene	DOID:3753	Hermansky-Pudlak syndrome		ISS	RGD:1622240	D	RGD:13592920	20180518	MouseDO			
1562866	Kxd1	KxDL motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562866	Kxd1	KxDL motif containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562868	Serpinb3a	serpin family B member 3A	gene	DOID:10283	prostate cancer		ISO	RGD:1351173	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1562868	Serpinb3a	serpin family B member 3A	gene	DOID:10283	prostate cancer		ISO	RGD:1351173	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1562868	Serpinb3a	serpin family B member 3A	gene	DOID:2773	contact dermatitis		ISO	RGD:1351173	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1562868	Serpinb3a	serpin family B member 3A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562868	Serpinb3a	serpin family B member 3A	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1351173	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1562875	Rbak	RB-associated KRAB zinc finger	gene	DOID:10283	prostate cancer		ISO	RGD:1602691	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1562880	Slc48a1	solute carrier family 48 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562880	Slc48a1	solute carrier family 48 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562880	Slc48a1	solute carrier family 48 member 1	gene	DOID:3275	thymoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562880	Slc48a1	solute carrier family 48 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562880	Slc48a1	solute carrier family 48 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562880	Slc48a1	solute carrier family 48 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:0050860	colorectal adenoma		ISO	RGD:1345581	D	RGD:13217408|PMID:21122381	20170912	RGD			
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:1345581	D	RGD:13217408|PMID:21122381	20170912	RGD			
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:1107	esophageal carcinoma	disease_progression	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:esophagus (human)	PMID:31964418|REF_RGD_ID:153344516
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1345581	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:2526	prostate adenocarcinoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNALincreased expression:prostate gland (human)	PMID:31964418|REF_RGD_ID:153344516
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:breast (human)	PMID:31964418|REF_RGD_ID:153344516
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:3717	gastric adenocarcinoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:stomach (human)	PMID:31964418|REF_RGD_ID:153344516
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:3948	adrenocortical carcinoma	ameliorates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:adrenal gland (human)	PMID:31964418|REF_RGD_ID:153344516
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:3963	thyroid gland carcinoma	disease_progression	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:thyroid gland (human)	PMID:31964418|REF_RGD_ID:153344516
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:4006	bladder urothelial carcinoma	disease_progression	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:urinary bladder (human)	PMID:31964418|REF_RGD_ID:153344516
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:4074	pancreatic adenocarcinoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:pancreas (human)	PMID:31964418|REF_RGD_ID:153344516
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1345581	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17437058|PMID:25401301
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:6039	uveal melanoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:uvea (human)	PMID:31964418|REF_RGD_ID:153344516
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:liver (human)	PMID:31964418|REF_RGD_ID:153344516
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:7474	malignant pleural mesothelioma	ameliorates	ISO	RGD:1345581	D	RGD:153344528|PMID:17253596	20220822	RGD		mRNA:increased expression:pleura, lung (human)	
1562883	Birc7	baculoviral IAP repeat-containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562885	C20h6orf15	similar to human chromosome 6 open reading frame 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562895	Hdac8	histone deacetylase 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562895	Hdac8	histone deacetylase 8	gene	DOID:0050581	brachydactyly		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:21320778|PMID:22885700|PMID:25075551|PMID:25741868|PMID:28492532|PMID:30158690
1562895	Hdac8	histone deacetylase 8	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular canal defect	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:37229200
1562895	Hdac8	histone deacetylase 8	gene	DOID:0060814	Wilson-Turner syndrome		ISO	RGD:1344478	D	RGD:13208817|PMID:22889856	20170817	RGD		DNA:snp:intron:c.164+5G>A (human)	
1562895	Hdac8	histone deacetylase 8	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:25741868
1562895	Hdac8	histone deacetylase 8	gene	DOID:0080509	Cornelia de Lange syndrome 5		ISO	RGD:1344478	D	RGD:11068490|PMID:24403048	20170817	RGD		DNA:missense mutations, deletions, duplication:multiple (human)	
1562895	Hdac8	histone deacetylase 8	gene	DOID:0080509	Cornelia de Lange syndrome 5		ISO	RGD:1344478	D	RGD:13208817|PMID:22889856	20170919	RGD		DNA:snp:intron:c.164+5G>A (human)	
1562895	Hdac8	histone deacetylase 8	gene	DOID:0080509	Cornelia de Lange syndrome 5		ISO	RGD:1344478	D	RGD:7240710	20150701	OMIM			
1562895	Hdac8	histone deacetylase 8	gene	DOID:0080509	Cornelia de Lange syndrome 5		ISO	RGD:1344478	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNELIA DE LANGE SYNDROME 5 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 | ClinVar Annotator: match by term: HDAC8-related condition	PMID:16199547|PMID:17576681|PMID:18414213|PMID:19605684|PMID:20301283|PMID:21320778|PMID:22885700|PMID:22889856|PMID:24088041|PMID:24375697|PMID:24403048|PMID:25075551|PMID:25102094|PMID:25326637|PMID:25533962|PMID:25574841|PMID:25640679|PMID:25741868|PMID:25805374|PMID:26463496|PMID:26633545|PMID:26671848|PMID:28492532|PMID:29293505|PMID:30158690|PMID:33587123|PMID:37229200|PMID:37377026|PMID:9536098
1562895	Hdac8	histone deacetylase 8	gene	DOID:0080509	Cornelia de Lange syndrome 5		ISS	RGD:1558090	D	RGD:13592920	20230718	MouseDO		OMIM:300882	
1562895	Hdac8	histone deacetylase 8	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1344478	D	RGD:13208819|PMID:16771768	20170817	RGD		protein:decreased expression:colon (human)	
1562895	Hdac8	histone deacetylase 8	gene	DOID:10488	imperforate anus		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:37229200
1562895	Hdac8	histone deacetylase 8	gene	DOID:1059	intellectual disability		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:21320778|PMID:22885700|PMID:25075551|PMID:25741868|PMID:28492532|PMID:30158690
1562895	Hdac8	histone deacetylase 8	gene	DOID:10763	hypertension		IEP		D	RGD:13208602|PMID:28567090	20170814	RGD		protein:decreased expression:heart (mouse, rat)	
1562895	Hdac8	histone deacetylase 8	gene	DOID:10907	microcephaly		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:37229200
1562895	Hdac8	histone deacetylase 8	gene	DOID:10908	hydrocephalus		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:37229200
1562895	Hdac8	histone deacetylase 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562895	Hdac8	histone deacetylase 8	gene	DOID:11155	hypohidrosis		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:21320778|PMID:22885700|PMID:25075551|PMID:25741868|PMID:28492532|PMID:30158690
1562895	Hdac8	histone deacetylase 8	gene	DOID:12215	oligohydramnios		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	
1562895	Hdac8	histone deacetylase 8	gene	DOID:1591	renovascular hypertension	treatment	IEP		D	RGD:13208809|PMID:27673327	20170816	RGD			
1562895	Hdac8	histone deacetylase 8	gene	DOID:1657	ventricular septal defect		ISO	RGD:1344478	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1562895	Hdac8	histone deacetylase 8	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1344478	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1562895	Hdac8	histone deacetylase 8	gene	DOID:1909	melanoma		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562895	Hdac8	histone deacetylase 8	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1344478	D	RGD:13208820|PMID:15888697	20170817	RGD		mRNA:decreased expression:lung (human)	
1562895	Hdac8	histone deacetylase 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562895	Hdac8	histone deacetylase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562895	Hdac8	histone deacetylase 8	gene	DOID:630	genetic disease		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15146185|PMID:15146186|PMID:17640042|PMID:18414213|PMID:19886810|PMID:20301283|PMID:21320778|PMID:22885700|PMID:22889856|PMID:24038889|PMID:24088041|PMID:24403048|PMID:24718998|PMID:25075551|PMID:25209348|PMID:25741868|PMID:26463496|PMID:26633545|PMID:26671848|PMID:28492532|PMID:28518168|PMID:29758565|PMID:30158690|PMID:32461654|PMID:37229200
1562895	Hdac8	histone deacetylase 8	gene	DOID:670	amphetamine abuse		IEP		D	RGD:9681719|PMID:25452209	20170816	RGD		mRNA:decreased expression:striatum (rat)	
1562895	Hdac8	histone deacetylase 8	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:37229200
1562895	Hdac8	histone deacetylase 8	gene	DOID:9000924	Gastrointestinal Motility Disorders		ISO	RGD:1344478	D	RGD:13208819|PMID:16771768	20170919	RGD		protein:decreased expression:colon (human)	
1562895	Hdac8	histone deacetylase 8	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1562895	Hdac8	histone deacetylase 8	gene	DOID:9003936	Cardiomegaly	treatment	IEP		D	RGD:9681716|PMID:23868068	20170817	RGD		associated with Hypertension	
1562895	Hdac8	histone deacetylase 8	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1558090	D	RGD:13208811|PMID:25504627	20170816	RGD			
1562895	Hdac8	histone deacetylase 8	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344478	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1562895	Hdac8	histone deacetylase 8	gene	DOID:9004992	Apnea		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	
1562895	Hdac8	histone deacetylase 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:21320778|PMID:22885700|PMID:25075551|PMID:25741868|PMID:28492532|PMID:30158690
1562895	Hdac8	histone deacetylase 8	gene	DOID:9005616	Micrognathism		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
1562895	Hdac8	histone deacetylase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344478	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:19605684|PMID:22885700|PMID:24403048|PMID:25075551|PMID:25741868|PMID:26671848|PMID:28492532
1562895	Hdac8	histone deacetylase 8	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:37229200
1562895	Hdac8	histone deacetylase 8	gene	DOID:9007661	Dwarfism		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:21320778|PMID:22885700|PMID:25075551|PMID:25741868|PMID:28492532|PMID:30158690
1562895	Hdac8	histone deacetylase 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:26671848|PMID:37229200
1562895	Hdac8	histone deacetylase 8	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:21320778|PMID:22885700|PMID:25075551|PMID:25741868|PMID:28492532|PMID:30158690
1562895	Hdac8	histone deacetylase 8	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:37229200
1562902	S100z	S100 calcium binding protein Z	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562902	S100z	S100 calcium binding protein Z	gene	DOID:5041	esophageal cancer		ISO	RGD:1348648	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562902	S100z	S100 calcium binding protein Z	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562902	S100z	S100 calcium binding protein Z	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:0060058	lymphoma		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:0060793	hypomyelinating leukodystrophy 5		ISO	RGD:1606763	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:0060793	hypomyelinating leukodystrophy 5		ISO	RGD:1606763	D	RGD:7240710	20130221	OMIM			
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:0060793	hypomyelinating leukodystrophy 5		ISO	RGD:1606763	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYCC1-related condition | ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 5 | ClinVar Annotator: match by term: hypomyelinating leukodystrophy 5	PMID:16199547|PMID:16951682|PMID:17576681|PMID:17683097|PMID:17928815|PMID:21911699|PMID:22749724|PMID:23998934|PMID:25741868|PMID:26571211|PMID:28492532|PMID:32148946|PMID:34192786|PMID:9536098
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1606763	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:303	substance-related disorder		ISO	RGD:1606763	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:607	paraplegia		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:9000986	Selective Tooth Agenesis, X-Linked, 1		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1	PMID:16951682|PMID:20301737|PMID:21911699|PMID:25741868
1562906	Hycc1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
1562909	Dcp2	decapping mRNA 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562909	Dcp2	decapping mRNA 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562909	Dcp2	decapping mRNA 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562909	Dcp2	decapping mRNA 2	gene	DOID:1115	sarcoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562909	Dcp2	decapping mRNA 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562909	Dcp2	decapping mRNA 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562909	Dcp2	decapping mRNA 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562909	Dcp2	decapping mRNA 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349747	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562909	Dcp2	decapping mRNA 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562909	Dcp2	decapping mRNA 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562909	Dcp2	decapping mRNA 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562909	Dcp2	decapping mRNA 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349747	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1562909	Dcp2	decapping mRNA 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562909	Dcp2	decapping mRNA 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562910	Noto	notochord homeobox	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562911	Ccdc24	coiled-coil domain containing 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562911	Ccdc24	coiled-coil domain containing 24	gene	DOID:1115	sarcoma		ISO	RGD:1603566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562911	Ccdc24	coiled-coil domain containing 24	gene	DOID:1324	lung cancer		ISO	RGD:1603566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562911	Ccdc24	coiled-coil domain containing 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562920	Aig1	androgen-induced 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562920	Aig1	androgen-induced 1	gene	DOID:1909	melanoma		ISO	RGD:1346084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562920	Aig1	androgen-induced 1	gene	DOID:3275	thymoma		ISO	RGD:1346084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562920	Aig1	androgen-induced 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562920	Aig1	androgen-induced 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562922	Asb10	ankyrin repeat and SOCS box-containing 10	gene	DOID:2843	long QT syndrome		ISO	RGD:13614362	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532
1562922	Asb10	ankyrin repeat and SOCS box-containing 10	gene	DOID:9001412	Glaucoma 1, Open Angle, F		ISO	RGD:1353086	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562922	Asb10	ankyrin repeat and SOCS box-containing 10	gene	DOID:9001412	Glaucoma 1, Open Angle, F		ISO	RGD:1353086	D	RGD:7240710	20130814	OMIM			
1562922	Asb10	ankyrin repeat and SOCS box-containing 10	gene	DOID:9001412	Glaucoma 1, Open Angle, F		ISO	RGD:1353086	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASB10-related condition | ClinVar Annotator: match by term: Glaucoma 1, open angle, F	PMID:22156576|PMID:25741868|PMID:28492532
1562928	Cxcl16	C-X-C motif chemokine ligand 16	gene	DOID:0080600	COVID-19		ISO	RGD:1354459	D	RGD:30296676|PMID:32416070	20200616	RGD		protein:increased expression:serum:	
1562928	Cxcl16	C-X-C motif chemokine ligand 16	gene	DOID:10533	viral pneumonia		ISO	RGD:1354459	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1562928	Cxcl16	C-X-C motif chemokine ligand 16	gene	DOID:10534	stomach cancer		ISO	RGD:1354459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562928	Cxcl16	C-X-C motif chemokine ligand 16	gene	DOID:1324	lung cancer		ISO	RGD:1354459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562928	Cxcl16	C-X-C motif chemokine ligand 16	gene	DOID:1909	melanoma		ISO	RGD:1354459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562928	Cxcl16	C-X-C motif chemokine ligand 16	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562928	Cxcl16	C-X-C motif chemokine ligand 16	gene	DOID:418	systemic scleroderma		ISO	RGD:1354459	D	RGD:5135279|PMID:21303517	20110719	RGD		protein:increased expression:serum, skin, endothelial cell	
1562928	Cxcl16	C-X-C motif chemokine ligand 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562928	Cxcl16	C-X-C motif chemokine ligand 16	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1354459	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1562928	Cxcl16	C-X-C motif chemokine ligand 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562933	Oaz2	ornithine decarboxylase antizyme 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562933	Oaz2	ornithine decarboxylase antizyme 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562933	Oaz2	ornithine decarboxylase antizyme 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562933	Oaz2	ornithine decarboxylase antizyme 2	gene	DOID:1115	sarcoma		ISO	RGD:1344023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562933	Oaz2	ornithine decarboxylase antizyme 2	gene	DOID:1324	lung cancer		ISO	RGD:1344023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562933	Oaz2	ornithine decarboxylase antizyme 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562933	Oaz2	ornithine decarboxylase antizyme 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562935	Tprn	taperin	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1352518	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	
1562935	Tprn	taperin	gene	DOID:0110526	autosomal recessive nonsyndromic deafness 79		ISO	RGD:1352518	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562935	Tprn	taperin	gene	DOID:0110526	autosomal recessive nonsyndromic deafness 79		ISO	RGD:1352518	D	RGD:7240710	20130221	OMIM			
1562935	Tprn	taperin	gene	DOID:0110526	autosomal recessive nonsyndromic deafness 79		ISO	RGD:1352518	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 79 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 79 | ClinVar Annotator: match by term: TPRN-related condition	PMID:20170898|PMID:20170899|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30311386
1562935	Tprn	taperin	gene	DOID:0110526	autosomal recessive nonsyndromic deafness 79		ISS	RGD:1557673	D	RGD:13592920	20230718	MouseDO		OMIM:613307	
1562935	Tprn	taperin	gene	DOID:1909	melanoma		ISO	RGD:1352518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562935	Tprn	taperin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562935	Tprn	taperin	gene	DOID:630	genetic disease		ISO	RGD:1352518	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
1562935	Tprn	taperin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352518	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:28492532|PMID:30311386
1562939	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562939	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562939	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562939	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:3275	thymoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562939	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562939	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562939	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347120	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562939	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562939	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562939	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562939	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562939	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562939	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562939	Acap2	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562940	Prpf38b	pre-mRNA processing factor 38B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562940	Prpf38b	pre-mRNA processing factor 38B	gene	DOID:0060058	lymphoma		ISO	RGD:1605670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562940	Prpf38b	pre-mRNA processing factor 38B	gene	DOID:1324	lung cancer		ISO	RGD:1605670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562940	Prpf38b	pre-mRNA processing factor 38B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562940	Prpf38b	pre-mRNA processing factor 38B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562940	Prpf38b	pre-mRNA processing factor 38B	gene	DOID:9002189	High Myopia		ISO	RGD:1605670	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1562940	Prpf38b	pre-mRNA processing factor 38B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562941	Cd177	CD177 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562941	Cd177	CD177 molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562941	Cd177	CD177 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562943	Selenov	selenoprotein V	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562943	Selenov	selenoprotein V	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321299	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1321299	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1321299	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18006695
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1562949	Topbp1	DNA topoisomerase II binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562951	Rab9b	RAB9B, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562951	Rab9b	RAB9B, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1353231	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562951	Rab9b	RAB9B, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562952	Erbin	erbb2 interacting protein	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1562952	Erbin	erbb2 interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562952	Erbin	erbb2 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562952	Erbin	erbb2 interacting protein	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1321667	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1562952	Erbin	erbb2 interacting protein	gene	DOID:10283	prostate cancer		ISO	RGD:1321667	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1562952	Erbin	erbb2 interacting protein	gene	DOID:10283	prostate cancer		ISO	RGD:1321667	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1562952	Erbin	erbb2 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562952	Erbin	erbb2 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1562952	Erbin	erbb2 interacting protein	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
1562952	Erbin	erbb2 interacting protein	gene	DOID:1596	depressive disorder		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1562952	Erbin	erbb2 interacting protein	gene	DOID:2030	anxiety disorder		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1562952	Erbin	erbb2 interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562952	Erbin	erbb2 interacting protein	gene	DOID:2841	asthma		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1562952	Erbin	erbb2 interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562952	Erbin	erbb2 interacting protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1562952	Erbin	erbb2 interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1562952	Erbin	erbb2 interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1321667	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562952	Erbin	erbb2 interacting protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562952	Erbin	erbb2 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562952	Erbin	erbb2 interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562952	Erbin	erbb2 interacting protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1562952	Erbin	erbb2 interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562952	Erbin	erbb2 interacting protein	gene	DOID:9008023	Memory Disorders		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1562952	Erbin	erbb2 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562958	Rad23b	RAD23 nucleotide excision repair protein B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562958	Rad23b	RAD23 nucleotide excision repair protein B	gene	DOID:0060058	lymphoma		ISO	RGD:1351559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1562958	Rad23b	RAD23 nucleotide excision repair protein B	gene	DOID:1115	sarcoma		ISO	RGD:1351559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562958	Rad23b	RAD23 nucleotide excision repair protein B	gene	DOID:12336	male infertility		ISO	RGD:1351559	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11809813
1562958	Rad23b	RAD23 nucleotide excision repair protein B	gene	DOID:3275	thymoma		ISO	RGD:1351559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562958	Rad23b	RAD23 nucleotide excision repair protein B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562958	Rad23b	RAD23 nucleotide excision repair protein B	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351559	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208208
1562958	Rad23b	RAD23 nucleotide excision repair protein B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1562958	Rad23b	RAD23 nucleotide excision repair protein B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1562958	Rad23b	RAD23 nucleotide excision repair protein B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562958	Rad23b	RAD23 nucleotide excision repair protein B	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1351559	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11809813
1562958	Rad23b	RAD23 nucleotide excision repair protein B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0050562	West syndrome		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasmus nutans	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0050581	brachydactyly		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0050840	cervical dystonia		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344111	D	RGD:11554207|PMID:23632792	20161025	RGD		DNA:duplication,deletion: :	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344111	D	RGD:9590163|PMID:23055267	20161025	RGD		DNA:missense mutations:cds:	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1344111	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0060260	ptosis		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISS	RGD:1623858	D	RGD:13592920	20180518	MouseDO			
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:1344111	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:1344111	D	RGD:7240710	20130731	OMIM			
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:1344111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 1 | ClinVar Annotator: match by term: MBD5-related condition	PMID:16199547|PMID:17576681|PMID:17847001|PMID:19809484|PMID:19904302|PMID:23055267|PMID:23422940|PMID:23587880|PMID:23632792|PMID:24885232|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28008202|PMID:28074849|PMID:28454995|PMID:28492532|PMID:29655203|PMID:31440721|PMID:31820818|PMID:32193494|PMID:32238909|PMID:33057194|PMID:33912662|PMID:35385942|PMID:35982159|PMID:9536098
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:1623858	D	RGD:11554204|PMID:26942102	20161025	RGD			
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:0080437	developmental and epileptic encephalopathy 31A		ISO	RGD:1344111	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A	PMID:25741868
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:1059	intellectual disability		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:17847001|PMID:23422940|PMID:23587880|PMID:25741868|PMID:28492532|PMID:30763456|PMID:32193494|PMID:34459404|PMID:35982159
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:1059	intellectual disability		ISO	RGD:1344111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:23422940|PMID:23587880|PMID:25741868|PMID:28492532|PMID:30763456|PMID:34459404|PMID:35982159
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:10591	pre-eclampsia		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preeclampsia	PMID:25741868|PMID:28492532
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:10608	celiac disease		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:25741868|PMID:28492532
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:10907	microcephaly		ISO	RGD:1344111	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1344111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:12128	pica disease		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pica	PMID:25741868|PMID:28492532
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:12849	autistic disorder		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:25741868|PMID:28492532|PMID:30208311
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:1826	epilepsy		ISO	RGD:1344111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:1891	optic nerve disease		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:1909	melanoma		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:2030	anxiety disorder		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:2340	craniosynostosis		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:4188	echolalia		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:25741868|PMID:28492532
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:535	sleep disorder		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disorder	PMID:25741868
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:5419	schizophrenia		ISO	RGD:1344111	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:630	genetic disease		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17847001|PMID:23422940|PMID:23587880|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33912662
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:8445	intestinal volvulus		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Volvulus	PMID:25741868|PMID:28492532
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:9000343	Vision Disorders		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:28492532
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344111	D	RGD:11554206|PMID:23422940	20161025	RGD		DNA:deletion,duplication,mutation::	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344111	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:9004538	Hearing Loss		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia | ClinVar Annotator: match by term: hypotonia	PMID:16199547|PMID:23422940|PMID:23587880|PMID:25741868|PMID:28492532|PMID:31820818
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: hypotonia	PMID:25741868
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:9007402	Gliosis		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1562961	Mbd5	methyl-CpG binding domain protein 5	gene	DOID:9649	congenital nystagmus		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	
1562963	C17h6orf52	similar to human chromosome 6 open reading frame 52	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562963	C17h6orf52	similar to human chromosome 6 open reading frame 52	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562965	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562965	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562965	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347457	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562965	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562965	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1347457	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562965	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562965	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562965	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562965	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562965	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562965	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562965	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562965	Rab11fip1	RAB11 family interacting protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1347457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603987	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1603987	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562967	Mctp2	multiple C2 and transmembrane domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1344325	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1344325	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1344325	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344325	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344325	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18559593
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562968	Ssbp2	single-stranded DNA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562969	Ttyh2	tweety family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562969	Ttyh2	tweety family member 2	gene	DOID:3275	thymoma		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562969	Ttyh2	tweety family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562969	Ttyh2	tweety family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562969	Ttyh2	tweety family member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562969	Ttyh2	tweety family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354269	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562969	Ttyh2	tweety family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562969	Ttyh2	tweety family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562969	Ttyh2	tweety family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562974	Qrich2	glutamine rich 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562974	Qrich2	glutamine rich 2	gene	DOID:0111914	spermatogenic failure 35		ISO	RGD:1604772	D	RGD:7240710	20190315	OMIM			
1562974	Qrich2	glutamine rich 2	gene	DOID:0111914	spermatogenic failure 35		ISO	RGD:1604772	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: QRICH2-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 35 | ClinVar Annotator: match by term: Spermatogenic failure 35 | ClinVar Annotator: match by term: spermatogenic failure 35	PMID:25741868
1562974	Qrich2	glutamine rich 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562974	Qrich2	glutamine rich 2	gene	DOID:1115	sarcoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562974	Qrich2	glutamine rich 2	gene	DOID:1324	lung cancer		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562974	Qrich2	glutamine rich 2	gene	DOID:1909	melanoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562974	Qrich2	glutamine rich 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1562974	Qrich2	glutamine rich 2	gene	DOID:3275	thymoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562974	Qrich2	glutamine rich 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562974	Qrich2	glutamine rich 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562974	Qrich2	glutamine rich 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562974	Qrich2	glutamine rich 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562974	Qrich2	glutamine rich 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562974	Qrich2	glutamine rich 2	gene	DOID:9001513	Asthenozoospermia		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: asthenoteratozoospermia	PMID:30683861|PMID:31110204|PMID:31292949
1562974	Qrich2	glutamine rich 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1562974	Qrich2	glutamine rich 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562974	Qrich2	glutamine rich 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1562974	Qrich2	glutamine rich 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:0060260	ptosis		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1346422	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581250
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1346422	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29438700
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:1074	kidney failure		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868|PMID:28492532
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:1115	sarcoma		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:11830	myopia		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:12849	autistic disorder		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:1324	lung cancer		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:1612	breast cancer		IEP		D	RGD:9588313|PMID:23516587	20141028	RGD		protein:increased expression:breast (rat)	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:1612	breast cancer	severity	ISO	RGD:1346422	D	RGD:9586031|PMID:22199269	20141003	RGD		mRNA:increased expression:breast (human)	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:1657	ventricular septal defect		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:1909	melanoma		ISO	RGD:1346422	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29438700
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:9588301|PMID:20542065	20141024	RGD		protein:increased expression:cerebral cortex, hippocampus, dentate gyrus (rat)	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:3275	thymoma		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:25741868
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1346422	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22493729
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:423	myopathy		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:24838796|PMID:25741868
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:5419	schizophrenia		IEP		D	RGD:9586022|PMID:23932495	20141027	RGD		protein:altered expression:prefrontal cortex (rat)	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:630	genetic disease		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27094131|PMID:28492532
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:674	cleft palate		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:24838796|PMID:25741868
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1346422	D	RGD:9681002|PMID:23236241	20141126	RGD		mRNA, protein:increased expression:liver (human)	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:7998	hyperthyroidism		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:8947	diabetic retinopathy		IEP		D	RGD:8547881|PMID:23423566	20141028	RGD		mRNA, protein:increased expression:retina (rat)	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1346422	D	RGD:8547881|PMID:23423566	20141028	RGD		mRNA:increased expression:retina (human)	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1558503	D	RGD:8547881|PMID:23423566	20141028	RGD			
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9000918	Disease Progression		ISO	RGD:1346422	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22493729
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9001445	Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features		ISO	RGD:1346422	D	RGD:7240710	20160210	OMIM			
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9001445	Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features		ISO	RGD:1346422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies	PMID:26656649
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9001581	Constipation		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9001827	Critical Illness		ISO	RGD:1346422	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22493729
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9002221	Hyperplasia		ISO	RGD:1346422	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22493729
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1346422	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25043185
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9004118	Experimental Melanoma		ISO	RGD:1346422	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29438700
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1346422	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22493729
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9005077	Joint Instability		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9007661	Dwarfism		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9009212	ACTH-independent Macronodular Adrenal Hyperplasia 3		ISO	RGD:1346422	D	RGD:7240710	20241106	OMIM			
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9009212	ACTH-independent Macronodular Adrenal Hyperplasia 3		ISO	RGD:1346422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 3 | ClinVar Annotator: match by term: KDM1A-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29559475|PMID:9536098
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1346422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1562975	Kdm1a	lysine demethylase 1A	gene	DOID:986	alopecia areata		ISO	RGD:1346422	D	RGD:9587460|PMID:21936853	20141015	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelodysplasia	PMID:28492532
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:0060058	lymphoma		ISO	RGD:1345718	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11980663
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1345718	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24141364
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma	disease_progression	ISO	RGD:1345718	D	RGD:11075072|PMID:22699455	20160505	RGD		DNA:mutations: :	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:0081155	common variable immunodeficiency 13		ISO	RGD:1345718	D	RGD:7240710	20190315	OMIM			
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:0081155	common variable immunodeficiency 13		ISO	RGD:1345718	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IKZF1-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 13 | ClinVar Annotator: match by term: Immunodeficiency, common variable, 13	PMID:10463586|PMID:19129520|PMID:22699455|PMID:22868967|PMID:25741868|PMID:26202931|PMID:26981933|PMID:27067989|PMID:27815723|PMID:27939403|PMID:28096536|PMID:28492532|PMID:29889099|PMID:31057532|PMID:34329649|PMID:35566429|PMID:7585946|PMID:8986714
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:1059	intellectual disability		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1345718	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:12450	pancytopenia		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:28492532
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:1340	pure red-cell aplasia		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pure red-cell aplasia	PMID:28492532|PMID:29681510|PMID:34162668
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:13774	Addison's disease		ISO	RGD:1345718	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Primary adrenal insufficiency	PMID:25741868|PMID:28492532|PMID:31057532|PMID:32531373|PMID:33122583
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:31057532|PMID:35101336
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:1826	epilepsy		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:1909	melanoma		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:3275	thymoma		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:3307	teratoma		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teratoma	PMID:28492532
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1345718	D	RGD:9068941	20220204	RGD		mRNA:increased expression:lung (human)	PMID:33738286|REF_RGD_ID:151347632
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1345718	D	RGD:150540324|PMID:32787735	20211231	RGD		protein:increased expression:lung (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:4409	folliculitis		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Folliculitis	PMID:28492532
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345718	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:5119	ovarian cyst		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cyst	PMID:28492532
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1345718	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868|PMID:26981933|PMID:27939403|PMID:28096536|PMID:28492532|PMID:29889099|PMID:31069201|PMID:31089937|PMID:32319000|PMID:32499645|PMID:32531373|PMID:32888943|PMID:36964972
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1345718	D	RGD:150540326|PMID:25301737	20211231	RGD		protein:increased expression:liver (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:7177	anal canal squamous cell carcinoma		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anal canal squamous cell carcinoma	PMID:25741868|PMID:28492532|PMID:32499645|PMID:32531373
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1345718	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:21548011|PMID:25741868
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1345718	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Chronic myeloid leukemia	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:1345718	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1345718	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autoimmune thrombocytopenia	PMID:25741868|PMID:26981933|PMID:27939403|PMID:28492532|PMID:28927821|PMID:30940614|PMID:31057532|PMID:31089937|PMID:32531373|PMID:33122583|PMID:35333544|PMID:38129715|PMID:38320737
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1345718	D	RGD:150540328|PMID:31320627	20211231	RGD		associated with colorectal cancer;DNA:polymorphisms:	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1345718	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868|PMID:28492532|PMID:31057532|PMID:32531373|PMID:33122583
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9004484	Sepsis		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sepsis	PMID:25741868|PMID:26981933|PMID:27939403|PMID:28492532|PMID:28927821|PMID:30940614|PMID:31057532|PMID:31089937|PMID:35333544|PMID:38129715|PMID:38320737
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor		ISO	RGD:1345718	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915428
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9008421	Epistaxis		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis	PMID:25741868
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9009142	Diamond-Blackfan Anemia-Like		ISO	RGD:1345718	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia-like	PMID:28492532|PMID:29681510|PMID:34162668
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1345718	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838193
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1345718	D	RGD:150540322|PMID:29780264	20211231	RGD		DNA:hypermethylation:promoter (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1345718	D	RGD:150540329|PMID:31010820	20211231	RGD		DNA:hypermethylation:promoter (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1345718	D	RGD:150540320|PMID:25928810	20211231	RGD		DNA:hypermethylation: (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1345718	D	RGD:150540323|PMID:29796114	20211231	RGD		DNA:hypermethylation: (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1345718	D	RGD:150540325|PMID:21737484	20211231	RGD		DNA:hypermethylation:promoter (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1345718	D	RGD:150540327|PMID:33478584	20211231	RGD		DNA:hypermethylation: (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1345718	D	RGD:150540317|PMID:31909823	20211231	RGD		DNA:hypermethylation: (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1345718	D	RGD:150540319|PMID:27726312	20211231	RGD		DNA:hypermethylation: (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1345718	D	RGD:150540321|PMID:29992492	20211231	RGD		DNA:hypermethylation: (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1345718	D	RGD:151347633|PMID:32958500	20220131	RGD		DNA:hypermethylation: (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1345718	D	RGD:150540328|PMID:31320627	20211231	RGD		DNA:polymorphisms: (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1345718	D	RGD:150540318|PMID:33723131	20211231	RGD		DNA:SNP:3' utr: (rs6964823) (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9471	meningitis		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningitis	PMID:25741868|PMID:26981933|PMID:27939403|PMID:28492532|PMID:28927821|PMID:30940614|PMID:31057532|PMID:31089937|PMID:35333544|PMID:38129715|PMID:38320737
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9563	bronchiectasis		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:25741868
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1345718	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:19684604
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1345718	D	RGD:151347631|PMID:24786325	20220131	RGD		DNA:SNPs: (human)	
1562979	Ikzf1	IKAROS family zinc finger 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1345718	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2	PMID:25741868|PMID:27993330|PMID:28492532
1562983	Mob2	MOB kinase activator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562983	Mob2	MOB kinase activator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1602095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562983	Mob2	MOB kinase activator 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562983	Mob2	MOB kinase activator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562983	Mob2	MOB kinase activator 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562983	Mob2	MOB kinase activator 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602095	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1562983	Mob2	MOB kinase activator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562986	Bmp10	bone morphogenetic protein 10	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1353352	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex	PMID:25741868
1562986	Bmp10	bone morphogenetic protein 10	gene	DOID:6419	tetralogy of Fallot		ISS	RGD:1558624	D	RGD:13592920	20180518	MouseDO		OMIM:187500	
1562986	Bmp10	bone morphogenetic protein 10	gene	DOID:9000784	Fibrosis		ISO	RGD:1353352	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: therapeutic	PMID:31712309
1562986	Bmp10	bone morphogenetic protein 10	gene	DOID:9004616	Left Ventricular Hypertrophy		IEP		D	RGD:2302083|PMID:17921333	20081118	RGD		associated with Hypertension;mRNA:increased expression:heart left ventricle	
1562986	Bmp10	bone morphogenetic protein 10	gene	DOID:9651	systolic heart failure		ISO	RGD:1353352	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: therapeutic	PMID:31712309
1562987	C18h18orf32	similar to human chromosome 18 open reading frame 32	gene	DOID:9003554	Glycosylphosphatidylinositol Biosynthesis Defect 25		ISO	RGD:1626573	D	RGD:7240710	20220810	OMIM			
1562988	Epb41l4b	erythrocyte membrane protein band 4.1 like 4B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562988	Epb41l4b	erythrocyte membrane protein band 4.1 like 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562988	Epb41l4b	erythrocyte membrane protein band 4.1 like 4B	gene	DOID:10534	stomach cancer		ISO	RGD:1320612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562988	Epb41l4b	erythrocyte membrane protein band 4.1 like 4B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562988	Epb41l4b	erythrocyte membrane protein band 4.1 like 4B	gene	DOID:1324	lung cancer		ISO	RGD:1320612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562988	Epb41l4b	erythrocyte membrane protein band 4.1 like 4B	gene	DOID:3275	thymoma		ISO	RGD:1320612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562988	Epb41l4b	erythrocyte membrane protein band 4.1 like 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1320612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562988	Epb41l4b	erythrocyte membrane protein band 4.1 like 4B	gene	DOID:5041	esophageal cancer		ISO	RGD:1320612	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562988	Epb41l4b	erythrocyte membrane protein band 4.1 like 4B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1562988	Epb41l4b	erythrocyte membrane protein band 4.1 like 4B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562988	Epb41l4b	erythrocyte membrane protein band 4.1 like 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562988	Epb41l4b	erythrocyte membrane protein band 4.1 like 4B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562991	Haus7	HAUS augmin-like complex, subunit 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1562991	Haus7	HAUS augmin-like complex, subunit 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562991	Haus7	HAUS augmin-like complex, subunit 7	gene	DOID:0060207	amyotrophic lateral sclerosis type 16		ISO	RGD:1604614	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16	
1562991	Haus7	HAUS augmin-like complex, subunit 7	gene	DOID:1324	lung cancer		ISO	RGD:1604614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562991	Haus7	HAUS augmin-like complex, subunit 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1562991	Haus7	HAUS augmin-like complex, subunit 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1562991	Haus7	HAUS augmin-like complex, subunit 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1604614	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562991	Haus7	HAUS augmin-like complex, subunit 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562991	Haus7	HAUS augmin-like complex, subunit 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562991	Haus7	HAUS augmin-like complex, subunit 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562991	Haus7	HAUS augmin-like complex, subunit 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562991	Haus7	HAUS augmin-like complex, subunit 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1562996	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:10534	stomach cancer		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562996	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1562996	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:1115	sarcoma		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562996	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1353276	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562996	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562996	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562996	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562996	Zscan20	zinc finger and SCAN domain containing 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:0070182	spermatogenic failure 13		ISO	RGD:1319196	D	RGD:7240710	20140911	OMIM			
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:0070182	spermatogenic failure 13		ISO	RGD:1319196	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 13 | ClinVar Annotator: match by term: TAF4B-related condition	PMID:25741868|PMID:28492532
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:10534	stomach cancer		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:1115	sarcoma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:1324	lung cancer		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:1909	melanoma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:3070	high grade glioma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:3275	thymoma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:4362	cervical cancer		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:5041	esophageal cancer		ISO	RGD:1319196	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1562997	Taf4b	TATA-box binding protein associated factor 4b	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563001	Sppl2a	signal peptide peptidase-like 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563001	Sppl2a	signal peptide peptidase-like 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563001	Sppl2a	signal peptide peptidase-like 2A	gene	DOID:0061056	immunodeficiency 86		ISO	RGD:1602994	D	RGD:7240710	20211020	OMIM			
1563001	Sppl2a	signal peptide peptidase-like 2A	gene	DOID:0061056	immunodeficiency 86		ISO	RGD:1602994	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 86	
1563001	Sppl2a	signal peptide peptidase-like 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1602994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563001	Sppl2a	signal peptide peptidase-like 2A	gene	DOID:1324	lung cancer		ISO	RGD:1602994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563001	Sppl2a	signal peptide peptidase-like 2A	gene	DOID:1909	melanoma		ISO	RGD:1602994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563001	Sppl2a	signal peptide peptidase-like 2A	gene	DOID:3275	thymoma		ISO	RGD:1602994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563001	Sppl2a	signal peptide peptidase-like 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1602994	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563001	Sppl2a	signal peptide peptidase-like 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1602994	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563001	Sppl2a	signal peptide peptidase-like 2A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563001	Sppl2a	signal peptide peptidase-like 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563001	Sppl2a	signal peptide peptidase-like 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:0111918	spermatogenic failure 40		ISO	RGD:1606123	D	RGD:7240710	20191211	OMIM			
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:0111918	spermatogenic failure 40		ISO	RGD:1606123	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CFAP65-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 40 | ClinVar Annotator: match by term: Spermatogenic failure 40	PMID:25741868
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:0111918	spermatogenic failure 40		ISS	RGD:1618945	D	RGD:13592920	20230718	MouseDO		OMIM:618664	
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:10283	prostate cancer		ISO	RGD:1606123	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:10283	prostate cancer		ISO	RGD:1606123	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:10534	stomach cancer		ISO	RGD:1606123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:12336	male infertility		ISO	RGD:1606123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868|PMID:30192042|PMID:31571197
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:1324	lung cancer		ISO	RGD:1606123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1606123	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:5419	schizophrenia		ISO	RGD:1606123	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563002	Cfap65	cilia and flagella associated protein 65	gene	DOID:9256	colorectal cancer		ISO	RGD:1606123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:0060058	lymphoma		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:10534	stomach cancer		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:1115	sarcoma		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:1324	lung cancer		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:1909	melanoma		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:3070	high grade glioma		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:3275	thymoma		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:4362	cervical cancer		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:5041	esophageal cancer		ISO	RGD:1353015	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1353015	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1563006	Atp9b	ATPase phospholipid transporting 9B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563011	Trat1	T cell receptor associated transmembrane adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:10283	prostate cancer		ISO	RGD:1348400	D	RGD:2293535|PMID:12368219	20080603	RGD		mRNA:decreased expression:prostate gland	
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1348400	D	RGD:2293534|PMID:15166229	20080603	RGD		protein:increased expression:prostate gland	
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:1115	sarcoma		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1348400	D	RGD:2293533|PMID:16580389	20080603	RGD		protein:increased expression:endometrium	
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:1324	lung cancer		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1348400	D	RGD:2293536|PMID:11561770	20080603	RGD		protein:decreased expression:breast	
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1348400	D	RGD:2293537|PMID:11161850	20080603	RGD		mRNA:increased expression:ovary	
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:4362	cervical cancer		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1348400	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1348400	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23811263
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563014	Ncoa4	nuclear receptor coactivator 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563015	Tmem269	transmembrane protein 269	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:11563379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563015	Tmem269	transmembrane protein 269	gene	DOID:4362	cervical cancer		ISO	RGD:11563379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563015	Tmem269	transmembrane protein 269	gene	DOID:5041	esophageal cancer		ISO	RGD:11563379	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563015	Tmem269	transmembrane protein 269	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:11563379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563015	Tmem269	transmembrane protein 269	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:11563379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1563018	Fcrlb	Fc receptor-like B	gene	DOID:1909	melanoma		ISO	RGD:1605583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563019	Il36g	interleukin 36, gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563019	Il36g	interleukin 36, gamma	gene	DOID:1115	sarcoma		ISO	RGD:1351778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563019	Il36g	interleukin 36, gamma	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563019	Il36g	interleukin 36, gamma	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563020	Ptchd4	patched domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563020	Ptchd4	patched domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1606357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563020	Ptchd4	patched domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1606357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563020	Ptchd4	patched domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606357	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563020	Ptchd4	patched domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:0061149	hereditary congenital ptosis 1		ISO	RGD:1346362	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Ptosis, hereditary congenital, 1 | ClinVar Annotator: match by term: ZFHX4-related condition	PMID:25741868|PMID:28492532
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:0110832	Usher syndrome type 1F		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 1F	PMID:25741868
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:10534	stomach cancer		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:1115	sarcoma		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:1324	lung cancer		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:3275	thymoma		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346362	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:16946494|PMID:21802062|PMID:24033266|PMID:24440720|PMID:25741868|PMID:33057194
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:9004934	BILATERAL CLEFT LIP		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cleft lip	PMID:25741868|PMID:34461323|PMID:36595458|PMID:37434517
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:9007700	Congenital Corneal Opacities, Cornea Guttata, and Corectopia		ISO	RGD:1346362	D	RGD:8554872	20241231	ClinVar		ClinVar Annotator: match by term: Congenital corneal opacity	PMID:25741868|PMID:39450701
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563022	Zfhx4	zinc finger homeobox 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:0060058	lymphoma		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1604609	D	RGD:8554872	20210615	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:1059	intellectual disability		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:1909	melanoma		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604609	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:630	genetic disease		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:9005834	Ependymomas		ISO	RGD:1604609	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:9009180	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED		ISO	RGD:1604609	D	RGD:7240710	20210317	OMIM			
1563027	Otud5	OTU deubiquitinase 5	gene	DOID:9009180	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED		ISO	RGD:1604609	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED | ClinVar Annotator: match by term: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | ClinVar Annotator: match by term: OTUD5-related condition	PMID:25741868|PMID:33523931|PMID:33748114|PMID:38037881
1563028	Appl2	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563028	Appl2	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563028	Appl2	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2	gene	DOID:303	substance-related disorder		ISO	RGD:1605653	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1563028	Appl2	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605653	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563028	Appl2	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563028	Appl2	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1605653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1563028	Appl2	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605653	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1563028	Appl2	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563028	Appl2	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563028	Appl2	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563037	Tmem185a	transmembrane protein 185A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563037	Tmem185a	transmembrane protein 185A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563037	Tmem185a	transmembrane protein 185A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563041	Tlcd4	TLC domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563046	Cer1	cerberus 1, DAN family BMP antagonist	gene	DOID:2394	ovarian cancer		ISO	RGD:1347243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1563046	Cer1	cerberus 1, DAN family BMP antagonist	gene	DOID:9002407	Spinal Fractures	susceptibility	ISO	RGD:1347243	D	RGD:35673321|PMID:19113921	20200713	RGD		DNA:SNPs: :rs3747532, rs1494360(human)	
1563047	Bpifb1	BPI fold containing family B, member 1	gene	DOID:3275	thymoma		ISO	RGD:1343435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563047	Bpifb1	BPI fold containing family B, member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563047	Bpifb1	BPI fold containing family B, member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563047	Bpifb1	BPI fold containing family B, member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563056	C5h6orf163	similar to human chromosome 6 open reading frame 163	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563056	C5h6orf163	similar to human chromosome 6 open reading frame 163	gene	DOID:0060058	lymphoma		ISO	RGD:1604202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1563060	C18h5orf46	similar to human chromosome 5 open reading frame 46	gene	DOID:1115	sarcoma		ISO	RGD:1605197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563060	C18h5orf46	similar to human chromosome 5 open reading frame 46	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563060	C18h5orf46	similar to human chromosome 5 open reading frame 46	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605197	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1563062	Gxylt1	glucoside xylosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606923	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563062	Gxylt1	glucoside xylosyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563062	Gxylt1	glucoside xylosyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563062	Gxylt1	glucoside xylosyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563062	Gxylt1	glucoside xylosyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563062	Gxylt1	glucoside xylosyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563062	Gxylt1	glucoside xylosyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563062	Gxylt1	glucoside xylosyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563062	Gxylt1	glucoside xylosyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563065	Nwd2	NACHT and WD repeat domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563070	Gpr137c	G protein-coupled receptor 137C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563070	Gpr137c	G protein-coupled receptor 137C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563070	Gpr137c	G protein-coupled receptor 137C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563072	C5h1orf216	similar to human chromosome 1 open reading frame 216	gene	DOID:1115	sarcoma		ISO	RGD:1602984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563073	Siglece	sialic acid binding Ig-like lectin E	gene	DOID:10534	stomach cancer		ISO	RGD:1351533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563073	Siglece	sialic acid binding Ig-like lectin E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563073	Siglece	sialic acid binding Ig-like lectin E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563077	Zfp90	zinc finger protein 90	gene	DOID:1115	sarcoma		ISO	RGD:1350266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563077	Zfp90	zinc finger protein 90	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563077	Zfp90	zinc finger protein 90	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606538	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:0070357	nephrotic syndrome type 20		ISO	RGD:1606538	D	RGD:7240710	20190731	OMIM			
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:0070357	nephrotic syndrome type 20		ISO	RGD:1606538	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 20 | ClinVar Annotator: match by term: Nephrotic syndrome, type 20 | ClinVar Annotator: match by term: TBC1D8B-related condition	PMID:25741868|PMID:28492532|PMID:30661770|PMID:31732614|PMID:34858901|PMID:35970429|PMID:36137753
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:10534	stomach cancer		ISO	RGD:1606538	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:1115	sarcoma		ISO	RGD:1606538	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1606538	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:31732614
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:1324	lung cancer		ISO	RGD:1606538	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:1909	melanoma		ISO	RGD:1606538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:3275	thymoma		ISO	RGD:1606538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:4362	cervical cancer		ISO	RGD:1606538	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606538	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606538	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1563084	Tbc1d8b	TBC1 domain family member 8B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606538	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1563085	Rmdn1	regulator of microtubule dynamics 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563085	Rmdn1	regulator of microtubule dynamics 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563085	Rmdn1	regulator of microtubule dynamics 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563085	Rmdn1	regulator of microtubule dynamics 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606009	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563085	Rmdn1	regulator of microtubule dynamics 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563085	Rmdn1	regulator of microtubule dynamics 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563085	Rmdn1	regulator of microtubule dynamics 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563086	Sowahd	sosondowah ankyrin repeat domain family member D	gene	DOID:0080600	COVID-19		ISO	RGD:1606099	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:0060645	chronic recurrent multifocal osteomyelitis		ISS	RGD:1558463	D	RGD:13592920	20230202	MouseDO		OMIM:259680	
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1352589	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:13677	SAPHO syndrome		ISO	RGD:1352589	D	RGD:11554173	20190312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:3275	thymoma		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1352589	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563090	Pstpip2	proline-serine-threonine phosphatase-interacting protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1352885	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:27182967
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1352885	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:27182967
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome	PMID:25741868|PMID:27182967|PMID:28492532|PMID:29266745|PMID:30046003|PMID:31620126|PMID:37160314
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:0060058	lymphoma		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:0080170	normophosphatemic familial tumoral calcinosis		ISO	RGD:1352885	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:0080170	normophosphatemic familial tumoral calcinosis		ISO	RGD:1352885	D	RGD:7240710	20150527	OMIM			
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:0080170	normophosphatemic familial tumoral calcinosis		ISO	RGD:1352885	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA | ClinVar Annotator: match by term: Normophosphatemic familial tumoral calcinosis | ClinVar Annotator: match by term: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL | ClinVar Annotator: match by term: normophosphatemic familial tumoral calcinosis	PMID:16960814|PMID:18094730|PMID:25741868|PMID:28346228|PMID:28492532|PMID:29266745|PMID:29506479|PMID:30322869|PMID:31231135|PMID:32106287
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1352885	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:25741868
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:1019	osteomyelitis		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteomyelitis	PMID:25741868|PMID:28492532|PMID:37586839
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:10534	stomach cancer		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:1059	intellectual disability		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:10907	microcephaly		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:10952	nephritis		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephritis	PMID:25741868|PMID:28492532|PMID:37586839
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:11383	cryptorchidism		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:11714	gestational diabetes		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:28492532
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:11836	clubfoot		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:12215	oligohydramnios		ISO	RGD:1352885	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28346228|PMID:28492532|PMID:29506479|PMID:31231135
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:12849	autistic disorder		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:13774	Addison's disease		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal hypoplasia	PMID:25741868|PMID:27182967|PMID:28492532|PMID:29266745|PMID:31620126
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:1588	thrombocytopenia		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28346228|PMID:28492532|PMID:31231135|PMID:34930662|PMID:37044079
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:1826	epilepsy		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:2841	asthma		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:4961	bone marrow disease		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:5295	intestinal disease		ISO	RGD:1352885	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:27182967
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:535	sleep disorder		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:552	pneumonia		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868|PMID:28492532|PMID:37586839
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:576	proteinuria		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868|PMID:27182967|PMID:28492532|PMID:29266745|PMID:31620126
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:630	genetic disease		ISO	RGD:1352885	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16960814|PMID:18094730|PMID:24029230|PMID:25741868|PMID:27182967|PMID:28346228|PMID:28487541|PMID:28492532|PMID:29365320|PMID:29506479|PMID:30046003|PMID:31208161|PMID:31231135|PMID:31309983|PMID:31638924|PMID:32106287|PMID:33237688|PMID:33427306|PMID:34308104|PMID:34621053|PMID:37160314
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:630	genetic disease		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16960814|PMID:18094730|PMID:24029230|PMID:25741868|PMID:27182967|PMID:28346228|PMID:28492532|PMID:29365320|PMID:29506479|PMID:30046003|PMID:31208161|PMID:31231135|PMID:31309983|PMID:31638924|PMID:33237688|PMID:33423168|PMID:34308104|PMID:34621053|PMID:37160314|PMID:37195360|PMID:37357006|PMID:38539345|PMID:39475954
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:7998	hyperthyroidism		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:850	lung disease		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868|PMID:27182967|PMID:28492532|PMID:29266745|PMID:31620126|PMID:34621053
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532|PMID:37586839
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868|PMID:27182967|PMID:28492532|PMID:29266745|PMID:31620126
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9000617	Myelocerebellar Disorder		ISO	RGD:1352885	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:28492532
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9001488	Human Influenza		ISO	RGD:1352885	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9001611	Urogenital Abnormalities		ISO	RGD:1352885	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:27182967
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1352885	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:27182967
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1352885	D	RGD:11554173	20250805	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9003133	Hypertelorism		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9003302	Monosomy 7 Myelodysplasia and Leukemia Syndrome 2		ISO	RGD:1352885	D	RGD:7240710	20201223	OMIM			
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9003302	Monosomy 7 Myelodysplasia and Leukemia Syndrome 2		ISO	RGD:1352885	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 | ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 2	PMID:16960814|PMID:18094730|PMID:25741868|PMID:28346228|PMID:28492532|PMID:29266745|PMID:29506479|PMID:29535429|PMID:30322869|PMID:31231135|PMID:32106287|PMID:33237688|PMID:34308104|PMID:34621053
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9003507	Premature Birth		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9004034	Alacrima		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alacrima	PMID:25741868|PMID:27182967|PMID:28492532|PMID:29266745|PMID:31620126
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9005077	Joint Instability		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:28492532
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:37586839
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9005616	Micrognathism		ISO	RGD:1352885	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28346228|PMID:28492532|PMID:29506479|PMID:31231135
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1352885	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27182967|PMID:28492532|PMID:29266745|PMID:31620126|PMID:37586839
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9008385	Vomiting		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868|PMID:28492532|PMID:37586839
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	PMID:25741868|PMID:28346228|PMID:28492532|PMID:31231135|PMID:34930662|PMID:37044079
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9009218	MIRAGE Syndrome		ISO	RGD:1352885	D	RGD:7240710	20190315	OMIM			
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9009218	MIRAGE Syndrome		ISO	RGD:1352885	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MIRAGE SYNDROME | ClinVar Annotator: match by term: MIRAGE syndrome | ClinVar Annotator: match by term: MYELODYSPLASIA, INFECTION, RESTRICTION OF GROWTH, ADRENAL HYPOPLASIA, GENITAL PHENOTYPES, AND ENTEROPATHY | ClinVar Annotator: match by term: Mirage syndrome	PMID:16960814|PMID:18094730|PMID:25741868|PMID:27182967|PMID:28346228|PMID:28492532|PMID:29266745|PMID:29506479|PMID:30046003|PMID:30322869|PMID:31231135|PMID:31309983|PMID:31620126|PMID:31666768|PMID:32106287|PMID:33237688|PMID:33423168|PMID:33427306|PMID:34621053|PMID:34732400|PMID:34906475|PMID:34930662|PMID:37044079|PMID:37586839|PMID:38539345
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9884	muscular dystrophy		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868|PMID:28492532|PMID:37586839
1563091	Samd9	sterile alpha motif domain containing 9	gene	DOID:9970	obesity		ISO	RGD:1352885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1563095	Zfp853	zinc finger protein 853	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563095	Zfp853	zinc finger protein 853	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2302454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563095	Zfp853	zinc finger protein 853	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2302454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563101	Klhl15	kelch-like family member 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563101	Klhl15	kelch-like family member 15	gene	DOID:0050567	orofacial cleft		ISO	RGD:1351915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868
1563101	Klhl15	kelch-like family member 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563101	Klhl15	kelch-like family member 15	gene	DOID:0112020	non-syndromic X-linked intellectual disability 103		ISO	RGD:1351915	D	RGD:7240710	20190315	OMIM			
1563101	Klhl15	kelch-like family member 15	gene	DOID:0112020	non-syndromic X-linked intellectual disability 103		ISO	RGD:1351915	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 | ClinVar Annotator: match by term: KLHL15-related condition | ClinVar Annotator: match by term: Mental retardation, X-linked 103	PMID:25741868|PMID:28492532
1563101	Klhl15	kelch-like family member 15	gene	DOID:1059	intellectual disability		ISO	RGD:1351915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1563101	Klhl15	kelch-like family member 15	gene	DOID:10907	microcephaly		ISO	RGD:1351915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1563101	Klhl15	kelch-like family member 15	gene	DOID:1115	sarcoma		ISO	RGD:1351915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563101	Klhl15	kelch-like family member 15	gene	DOID:12849	autistic disorder		ISO	RGD:14351525	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:30208311
1563101	Klhl15	kelch-like family member 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1351915	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563101	Klhl15	kelch-like family member 15	gene	DOID:83	cataract		ISO	RGD:1351915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
1563101	Klhl15	kelch-like family member 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563101	Klhl15	kelch-like family member 15	gene	DOID:9007661	Dwarfism		ISO	RGD:1351915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1563105	Dnai3	dynein axonemal intermediate chain 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563105	Dnai3	dynein axonemal intermediate chain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1605003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563105	Dnai3	dynein axonemal intermediate chain 3	gene	DOID:9000983	Encephalocele		ISO	RGD:1605003	D	RGD:8554872	20180306	ClinVar		ClinVar Annotator: match by term: occipital encephalocele	PMID:29285825
1563105	Dnai3	dynein axonemal intermediate chain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:0060282	persistent hyperplastic primary vitreous		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous	PMID:22899577|PMID:25741868|PMID:25843205|PMID:28492532|PMID:29146883
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:1604790	D	RGD:8554872	20240702	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2	
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:22267198|PMID:22387016|PMID:25741868|PMID:28492532
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:1115	sarcoma		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:182	calcinosis		ISO	RGD:1604790	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22267198
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:1826	epilepsy		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22267198|PMID:22387016|PMID:25741868|PMID:28492532
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:2493	gastric antral vascular ectasia		ISO	RGD:1604790	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22267198
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1604790	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dyskeratosis Congenita | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar Annotator: match by term: dyskeratosis congenita	PMID:16199547|PMID:17576681|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:24033266|PMID:2411576|PMID:24115768|PMID:25182133|PMID:25197929|PMID:25741868|PMID:25843205|PMID:26344056|PMID:28135719|PMID:28492532|PMID:28864049|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:30393977|PMID:30523342|PMID:3057194|PMID:30891747|PMID:31785789|PMID:33510405|PMID:33528536|PMID:34706368|PMID:35982159|PMID:37216690|PMID:9536098
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:3275	thymoma		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604790	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:5679	retinal disease		ISO	RGD:1604790	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:22267198|PMID:22387016|PMID:23869908|PMID:25741868|PMID:28492532
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:630	genetic disease		ISO	RGD:1604790	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:25741868|PMID:28492532|PMID:30891747|PMID:34706368|PMID:37216690
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:6364	migraine		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:22267198|PMID:22387016|PMID:25741868|PMID:28492532
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:674	cleft palate		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:22899577|PMID:25741868|PMID:25843205|PMID:28492532|PMID:29146883
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:7736	retinal telangiectasia		ISO	RGD:1604790	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22267198
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:22899577|PMID:25741868|PMID:25843205|PMID:28492532|PMID:29146883
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1604790	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22267198
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:9003025	Cerebroretinal Microangiopathy with Calcifications and Cysts		ISO	RGD:1604790	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:9003025	Cerebroretinal Microangiopathy with Calcifications and Cysts		ISO	RGD:1604790	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts | ClinVar Annotator: match by term: Coats plus syndrome	PMID:22267198|PMID:22387016|PMID:23220793|PMID:23869908|PMID:24033266|PMID:25182133|PMID:25741868|PMID:28492532|PMID:30891747
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:9003371	Cerebroretinal Microangiopathy with Calcifications and Cysts 1		ISO	RGD:1604790	D	RGD:7240710	20190501	OMIM			
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:9003371	Cerebroretinal Microangiopathy with Calcifications and Cysts 1		ISO	RGD:1604790	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 | ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1	PMID:16199547|PMID:17576681|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:24033266|PMID:2411576|PMID:24115768|PMID:25182133|PMID:25741868|PMID:25843205|PMID:26344056|PMID:28492532|PMID:28864049|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:3057194|PMID:30891747|PMID:31069529|PMID:32141364|PMID:33510405|PMID:33528536|PMID:34573280|PMID:34706368|PMID:35982159|PMID:36177296|PMID:37216690|PMID:9536098
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563106	Ctc1	CST telomere replication complex component 1	gene	DOID:936	brain disease		ISO	RGD:1604790	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22267198
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:0050581	brachydactyly		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:24033266|PMID:25741868|PMID:28492532
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:0050591	tooth agenesis		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254|PMID:37009414|PMID:39333051
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:24033266|PMID:25741868|PMID:28492532
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:0060249	scoliosis		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:0110540	autosomal recessive nonsyndromic deafness 98		ISO	RGD:1344496	D	RGD:7240710	20140911	OMIM			
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:0110540	autosomal recessive nonsyndromic deafness 98		ISO	RGD:1344496	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 98	PMID:24033266|PMID:25741868|PMID:28492532|PMID:30046887
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:0111428	essential tremor 1		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:24033266|PMID:25741868|PMID:28492532
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:0111662	ectodermal dysplasia 14		ISO	RGD:1344496	D	RGD:7240710	20190315	OMIM			
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:0111662	ectodermal dysplasia 14		ISO	RGD:1344496	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE, WITH HYPOHIDROSIS | ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30046887|PMID:30544257|PMID:32112661|PMID:34042254|PMID:34556655|PMID:37009414|PMID:39333051|PMID:41163957
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532|PMID:34042254
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:11155	hypohidrosis		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:11156	anhidrosis		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anhidrosis	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:12450	pancytopenia		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:1283	enterocele		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:13620	patent foramen ovale		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:1588	thrombocytopenia		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:1826	epilepsy		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:1909	melanoma		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28409725|PMID:28492532|PMID:29144512|PMID:30046887|PMID:33144682|PMID:34042254|PMID:35741818|PMID:37009414|PMID:37853563|PMID:39333051
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:2841	asthma		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:4535	hypotrichosis		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotrichosis	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:543	dystonia		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:630	genetic disease		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22678063|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:630	genetic disease		ISO	RGD:1344496	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22678063|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254|PMID:37009414|PMID:39333051
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:8927	learning disability		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:24033266|PMID:25741868|PMID:28492532
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9001031	Retrognathia		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9003044	Selective Tooth Agenesis 10		ISO	RGD:1344496	D	RGD:7240710	20230104	OMIM			
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9003044	Selective Tooth Agenesis 10		ISO	RGD:1344496	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 10 | ClinVar Annotator: match by term: Tooth agenesis, selective, 10	PMID:22678063|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27736875|PMID:28492532|PMID:30046887|PMID:30544257|PMID:32112661|PMID:34042254|PMID:37009414|PMID:41163957
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9003098	Taurodontism		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Taurodontism	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9004538	Hearing Loss		ISO	RGD:1344496	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9006617	Fatigue		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9007661	Dwarfism		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24033266|PMID:25741868|PMID:28492532
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24033266|PMID:25741868|PMID:28492532
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9008421	Epistaxis		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9008675	Dyskinesias		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:93	language disorder		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:24033266|PMID:25741868|PMID:28492532
1563108	Tspear	thrombospondin-type laminin G domain and EAR repeats	gene	DOID:9840	esotropia		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:24033266|PMID:25741868|PMID:28492532
1563114	Asb4	ankyrin repeat and SOCS box-containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563114	Asb4	ankyrin repeat and SOCS box-containing 4	gene	DOID:10591	pre-eclampsia		ISS	RGD:1557659	D	RGD:13592920	20180518	MouseDO		OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592	
1563114	Asb4	ankyrin repeat and SOCS box-containing 4	gene	DOID:3070	high grade glioma		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563114	Asb4	ankyrin repeat and SOCS box-containing 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1563114	Asb4	ankyrin repeat and SOCS box-containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563114	Asb4	ankyrin repeat and SOCS box-containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:0050581	brachydactyly		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1349172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20412115
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:26633542|PMID:28492532|PMID:29468350|PMID:30504930|PMID:30763456|PMID:33057194|PMID:33994118|PMID:34055696|PMID:35468861
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:0060046	aphasia		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aphasia	
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language		ISO	RGD:1349172	D	RGD:7240710	20130221	OMIM			
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language		ISO	RGD:1349172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEF2C-related condition | ClinVar Annotator: match by term: MEF2C-related disorder | ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	PMID:15735306|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20333642|PMID:20513142|PMID:22031302|PMID:22498567|PMID:23389741|PMID:24088041|PMID:25131622|PMID:25741868|PMID:25741869|PMID:26633542|PMID:26633545|PMID:27255693|PMID:27748065|PMID:28492532|PMID:28554332|PMID:29159939|PMID:29468350|PMID:29655203|PMID:29706646|PMID:29758562|PMID:29863696|PMID:30376817|PMID:30504930|PMID:30679432|PMID:31512412|PMID:32123317|PMID:33004838|PMID:33057194|PMID:33994118|PMID:34022131|PMID:34055696|PMID:35468861|PMID:36881370|PMID:37730226|PMID:9536098
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:34022131
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:1059	intellectual disability		ISO	RGD:1349172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20412115
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:1059	intellectual disability		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual deficiency | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:19592390|PMID:19876902|PMID:20513142|PMID:23001426|PMID:25741868|PMID:28492532|PMID:29720203|PMID:30376817|PMID:30763456
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:11830	myopia		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:34022131
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:12849	autistic disorder		ISO	RGD:1349172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19131610
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1621607	D	RGD:1580546|PMID:16469744	20081002	RGD			
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:1824	status epilepticus		IEP		D	RGD:5131610|PMID:18949272	20110505	RGD		mRNA:increased expression:dentate gyrus	
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:1824	status epilepticus		ISO	RGD:1349172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18949272
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:1826	epilepsy		ISO	RGD:1349172	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:20412115|PMID:29942082
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:1826	epilepsy		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:10715212|PMID:25741868|PMID:26633542|PMID:28492532|PMID:29468350|PMID:30504930|PMID:32681840|PMID:33057194|PMID:33994118|PMID:34055696
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:1827	generalized epilepsy		ISO	RGD:1349172	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:32581362
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:1909	melanoma		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:2234	focal epilepsy		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:34022131
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1349172	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20412115
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:255	hemangioma		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868|PMID:34022131
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:4189	mutism		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:540	strabismus		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:34022131
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:543	dystonia		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:5844	myocardial infarction	treatment	IMP		D	RGD:7327215|PMID:23948075	20130917	RGD			
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:630	genetic disease		ISO	RGD:1349172	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:20513142|PMID:20674574|PMID:22498567|PMID:25741868|PMID:28492532|PMID:30376817|PMID:31512412|PMID:9384584
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:630	genetic disease		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22498567|PMID:25741868|PMID:28492532
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Agenesis of corpus callosum	PMID:25741868
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349172	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349172	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:20513142|PMID:25741868|PMID:28492532|PMID:33831796|PMID:34022131
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1621607	D	RGD:5131608|PMID:20041152	20110505	RGD			
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language delay | ClinVar Annotator: match by term: Speech delay	PMID:25741868|PMID:28492532|PMID:28554332
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:34022131
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:2312263|PMID:18413674	20110505	RGD		mRNA:increased expression:heart	
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:9006680	Hyperventilation		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperventilation	PMID:25741868
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:25741868
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563119	Mef2c	myocyte enhancer factor 2C	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1349172	D	RGD:8554872	20170606	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	
1563120	Slx4ip	SLX4 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563120	Slx4ip	SLX4 interacting protein	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1352856	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:28492532|PMID:32733715
1563120	Slx4ip	SLX4 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1352856	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563120	Slx4ip	SLX4 interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1352856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563120	Slx4ip	SLX4 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:1352856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563120	Slx4ip	SLX4 interacting protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563120	Slx4ip	SLX4 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1350466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:1115	sarcoma		ISO	RGD:1350466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:1324	lung cancer		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:1826	epilepsy		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:1909	melanoma		ISO	RGD:1350466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:2843	long QT syndrome		ISO	RGD:1350466	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:3275	thymoma		ISO	RGD:1350466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1350466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1350466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1350466	D	RGD:8554872	20190507	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350466	D	RGD:8554872	20211221	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1350466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9008582	Developmental Disease		ISO	RGD:1350466	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563121	Ubr4	ubiquitin protein ligase E3 component n-recognin 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:1115	sarcoma		ISO	RGD:1320418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:1324	lung cancer		ISO	RGD:1320418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:3070	high grade glioma		ISO	RGD:1320418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:3275	thymoma		ISO	RGD:1320418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:9006737	Monoclonal B-Cell Lymphocytosis		ISO	RGD:1320418	D	RGD:8554872	20160322	ClinVar		ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis	
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563123	Sec14l1	SEC14-like lipid binding 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1320418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1563125	Zc3h11d	zinc finger CCCH-type containing 11D	gene	DOID:1909	melanoma		ISO	RGD:1605567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563125	Zc3h11d	zinc finger CCCH-type containing 11D	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563125	Zc3h11d	zinc finger CCCH-type containing 11D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563127	Bahd1	bromo adjacent homology domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563128	Arl5c	ARF like GTPase 5C	gene	DOID:10534	stomach cancer		ISO	RGD:1316723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563128	Arl5c	ARF like GTPase 5C	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1316723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1563128	Arl5c	ARF like GTPase 5C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563128	Arl5c	ARF like GTPase 5C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563128	Arl5c	ARF like GTPase 5C	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1316723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:2937319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:1115	sarcoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:2937319	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:1324	lung cancer		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:1909	melanoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:3312	bipolar disorder		ISO	RGD:2937319	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563130	Trank1	tetratricopeptide repeat and ankyrin repeat containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:2937319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:0050847	sleep apnea		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:0060805	Prieto syndrome		ISO	RGD:1346670	D	RGD:11554173	20240109	CTD		CTD Direct Evidence: marker/mechanism	
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:0060805	Prieto syndrome		ISO	RGD:1346670	D	RGD:7240710	20231206	OMIM			
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:0060805	Prieto syndrome		ISO	RGD:1346670	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PRIETO SYNDROME | ClinVar Annotator: match by term: Prieto syndrome | ClinVar Annotator: match by term: WNK3-related condition	PMID:25741868
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:0070309	absence epilepsy		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:0080833	laryngomalacia		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:12849	autistic disorder		ISO	RGD:1346670	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:1826	epilepsy		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:3275	thymoma		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:9001031	Retrognathia		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	
1563131	Wnk3	WNK lysine deficient protein kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563141	Sun2	Sad1 and UNC84 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1563141	Sun2	Sad1 and UNC84 domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1563141	Sun2	Sad1 and UNC84 domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1322098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563141	Sun2	Sad1 and UNC84 domain containing 2	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1322098	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:16199547|PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25210889|PMID:25741868|PMID:28492532|PMID:9536098
1563141	Sun2	Sad1 and UNC84 domain containing 2	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1322098	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:16199547|PMID:17576681|PMID:25210889|PMID:25741868|PMID:28492532|PMID:9536098
1563141	Sun2	Sad1 and UNC84 domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1322098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1563141	Sun2	Sad1 and UNC84 domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1322098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563141	Sun2	Sad1 and UNC84 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1563141	Sun2	Sad1 and UNC84 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563142	Pabpc1l	poly(A) binding protein, cytoplasmic 1-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563142	Pabpc1l	poly(A) binding protein, cytoplasmic 1-like	gene	DOID:1115	sarcoma		ISO	RGD:1346773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563142	Pabpc1l	poly(A) binding protein, cytoplasmic 1-like	gene	DOID:1909	melanoma		ISO	RGD:1346773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563142	Pabpc1l	poly(A) binding protein, cytoplasmic 1-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1346773	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563142	Pabpc1l	poly(A) binding protein, cytoplasmic 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563142	Pabpc1l	poly(A) binding protein, cytoplasmic 1-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563142	Pabpc1l	poly(A) binding protein, cytoplasmic 1-like	gene	DOID:9006513	Oocyte Maturation Defect 1		ISO	RGD:1346773	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Female infertility due to zona pellucida defect	
1563142	Pabpc1l	poly(A) binding protein, cytoplasmic 1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563142	Pabpc1l	poly(A) binding protein, cytoplasmic 1-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563142	Pabpc1l	poly(A) binding protein, cytoplasmic 1-like	gene	DOID:9009286	Oocyte/Zygote/Embryo Maturation Arrest 22		ISO	RGD:1346773	D	RGD:7240710	20250212	OMIM			
1563142	Pabpc1l	poly(A) binding protein, cytoplasmic 1-like	gene	DOID:9009286	Oocyte/Zygote/Embryo Maturation Arrest 22		ISO	RGD:1346773	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 22	
1563142	Pabpc1l	poly(A) binding protein, cytoplasmic 1-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563144	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563144	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1351197	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1563144	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563144	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563144	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:9001924	RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE		ISO	RGD:1351197	D	RGD:7240710	20241106	OMIM			
1563144	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:9001924	RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE		ISO	RGD:1351197	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rhizomelic dysplasia, Ain-Naz type	PMID:25741868
1563144	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1351197	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1563144	Gnpnat1	glucosamine-phosphate N-acetyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:1059	intellectual disability		ISO	RGD:1345309	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21082655
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:1059	intellectual disability		ISO	RGD:1345309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:1909	melanoma		ISO	RGD:1345309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:3275	thymoma		ISO	RGD:1345309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1345309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1345309	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:535	sleep disorder		ISO	RGD:1345309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:5419	schizophrenia		ISS	RGD:1557097	D	RGD:13592920	20180518	MouseDO		OMIM:181500	
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:9003129	Chromosome 3, Monosomy 3p25		ISO	RGD:1345309	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21082655
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345309	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563152	Srgap3	SLIT-ROBO Rho GTPase activating protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563163	Rmi2	RecQ mediated genome instability 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563164	Gtse1	G-2 and S-phase expressed 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563164	Gtse1	G-2 and S-phase expressed 1	gene	DOID:0080600	COVID-19		ISO	RGD:1350308	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1563164	Gtse1	G-2 and S-phase expressed 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563164	Gtse1	G-2 and S-phase expressed 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563164	Gtse1	G-2 and S-phase expressed 1	gene	DOID:1324	lung cancer		ISO	RGD:1350308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563164	Gtse1	G-2 and S-phase expressed 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563164	Gtse1	G-2 and S-phase expressed 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563164	Gtse1	G-2 and S-phase expressed 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563164	Gtse1	G-2 and S-phase expressed 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350308	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1563166	Kbtbd8	kelch repeat and BTB domain containing 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563167	Gas2	growth arrest-specific 2	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: nonsyndromic hearing loss	
1563167	Gas2	growth arrest-specific 2	gene	DOID:0061124	autosomal recessive nonsyndromic deafness 125		ISO	RGD:1348959	D	RGD:7240710	20240717	OMIM			
1563167	Gas2	growth arrest-specific 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1348959	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1563167	Gas2	growth arrest-specific 2	gene	DOID:10003	sensorineural hearing loss		ISS	RGD:1558248	D	RGD:13592920	20220616	MouseDO			
1563167	Gas2	growth arrest-specific 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563167	Gas2	growth arrest-specific 2	gene	DOID:3275	thymoma		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563167	Gas2	growth arrest-specific 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563167	Gas2	growth arrest-specific 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563167	Gas2	growth arrest-specific 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563167	Gas2	growth arrest-specific 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348959	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563167	Gas2	growth arrest-specific 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563167	Gas2	growth arrest-specific 2	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1348959	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
1563167	Gas2	growth arrest-specific 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563168	Celf3	CUGBP, Elav-like family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563168	Celf3	CUGBP, Elav-like family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319873	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563168	Celf3	CUGBP, Elav-like family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563168	Celf3	CUGBP, Elav-like family member 3	gene	DOID:1909	melanoma		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563168	Celf3	CUGBP, Elav-like family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319873	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563168	Celf3	CUGBP, Elav-like family member 3	gene	DOID:440	neuromuscular disease		ISO	RGD:1319873	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
1563168	Celf3	CUGBP, Elav-like family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563168	Celf3	CUGBP, Elav-like family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563168	Celf3	CUGBP, Elav-like family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563175	Fam221a	family with sequence similarity 221, member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563175	Fam221a	family with sequence similarity 221, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563175	Fam221a	family with sequence similarity 221, member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563175	Fam221a	family with sequence similarity 221, member A	gene	DOID:1115	sarcoma		ISO	RGD:1604475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563175	Fam221a	family with sequence similarity 221, member A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563175	Fam221a	family with sequence similarity 221, member A	gene	DOID:2394	ovarian cancer		ISO	RGD:1604475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer	
1563175	Fam221a	family with sequence similarity 221, member A	gene	DOID:3070	high grade glioma		ISO	RGD:1604475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563175	Fam221a	family with sequence similarity 221, member A	gene	DOID:3275	thymoma		ISO	RGD:1604475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563175	Fam221a	family with sequence similarity 221, member A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563175	Fam221a	family with sequence similarity 221, member A	gene	DOID:4362	cervical cancer		ISO	RGD:1604475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563175	Fam221a	family with sequence similarity 221, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563175	Fam221a	family with sequence similarity 221, member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563178	Eda	ectodysplasin-A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563178	Eda	ectodysplasin-A	gene	DOID:0050591	tooth agenesis		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: oligodontia	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25333067|PMID:25741868|PMID:28492532
1563178	Eda	ectodysplasin-A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563178	Eda	ectodysplasin-A	gene	DOID:0111664	ectodermal dysplasia 1		ISO	RGD:1348155	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563178	Eda	ectodysplasin-A	gene	DOID:0111664	ectodermal dysplasia 1		ISO	RGD:1348155	D	RGD:1598881|PMID:8696334	20061220	RGD			
1563178	Eda	ectodysplasin-A	gene	DOID:0111664	ectodermal dysplasia 1		ISO	RGD:1348155	D	RGD:7240710	20130221	OMIM			
1563178	Eda	ectodysplasin-A	gene	DOID:0111664	ectodermal dysplasia 1		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Christ-Siemens-Touraine syndrome | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED | ClinVar Annotator: match by term: Ectodermal dysplasia 1 | ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic | ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia | ClinVar Annotator: match by term: X-linked hypohidrotic ectodermal dysplasia	PMID:10469321|PMID:10534613|PMID:10951256|PMID:11279189|PMID:11295832|PMID:11378824|PMID:11416205|PMID:12930312|PMID:12932274|PMID:12947561|PMID:12949972|PMID:14656435|PMID:15461765|PMID:16199547|PMID:16583127|PMID:17256800|PMID:17576681|PMID:17970812|PMID:18076698|PMID:18231121|PMID:18384562|PMID:18386312|PMID:18386315|PMID:18427821|PMID:18451855|PMID:18510547|PMID:18545687|PMID:18657636|PMID:18666859|PMID:18688569|PMID:18821982|PMID:19278982|PMID:19438931|PMID:19504606|PMID:19592680|PMID:19623212|PMID:19921643|PMID:19960895|PMID:20077893|PMID:20236127|PMID:202361270|PMID:20301291|PMID:20374512|PMID:20486090|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:22382802|PMID:22428923|PMID:22633615|PMID:22875504|PMID:23293949|PMID:23553579|PMID:23687000|PMID:23744313|PMID:23926003|PMID:23989902|PMID:23991204|PMID:24033266|PMID:24312213|PMID:24330993|PMID:24631698|PMID:24648697|PMID:24689965|PMID:24715423|PMID:24724966|PMID:25203534|PMID:25333067|PMID:25339629|PMID:25626993|PMID:25640679|PMID:25741868|PMID:25846883|PMID:26273176|PMID:26345974|PMID:26411740|PMID:26502894|PMID:26634545|PMID:26753551|PMID:27054699|PMID:27144394|PMID:27264909|PMID:27305980|PMID:27538153|PMID:27657131|PMID:28045201|PMID:28052341|PMID:28492532|PMID:29676859|PMID:29694819|PMID:30088137|PMID:30117778|PMID:30417976|PMID:30974434|PMID:31129666|PMID:31306530|PMID:31376704|PMID:31489414|PMID:31652981|PMID:31796081|PMID:31852928|PMID:31924237|PMID:32713954|PMID:33502802|PMID:33550332|PMID:33622384|PMID:33943035|PMID:34545288|PMID:34573371|PMID:34582123|PMID:34817077|PMID:34863015|PMID:34906502|PMID:35023123|PMID:35923710|PMID:36071541|PMID:37525042|PMID:38129747|PMID:38287639|PMID:40781288|PMID:8696334|PMID:9507389|PMID:9536098|PMID:9630076|PMID:9683615|PMID:9736768|PMID:9856856
1563178	Eda	ectodysplasin-A	gene	DOID:0111664	ectodermal dysplasia 1		ISS	RGD:1557590	D	RGD:13592920	20250612	MouseDO		OMIM:305100	
1563178	Eda	ectodysplasin-A	gene	DOID:10754	otitis media		ISO	RGD:1557590	D	RGD:14398763|PMID:31028034	20190430	RGD			
1563178	Eda	ectodysplasin-A	gene	DOID:11155	hypohidrosis		ISO	RGD:1348155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868
1563178	Eda	ectodysplasin-A	gene	DOID:11830	myopia		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532
1563178	Eda	ectodysplasin-A	gene	DOID:13714	anodontia		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anodontia	PMID:28492532
1563178	Eda	ectodysplasin-A	gene	DOID:14693	Clouston syndrome		ISO	RGD:12147212	D	RGD:9068941	20250717	OMIA		Hypohidrotic ectodermal dysplasia, X-linked, EDA-related	PMID:15500478|PMID:15946744|PMID:16151697|PMID:17924345|PMID:19533784|PMID:20078794|PMID:21730053|PMID:23441037|PMID:27449516|PMID:30276836|PMID:30397018|PMID:31122682|PMID:32482291|PMID:34076266|PMID:34861369|PMID:3710892|PMID:37191329|PMID:4055508|PMID:5462764|PMID:579352|PMID:6746381|PMID:9419891
1563178	Eda	ectodysplasin-A	gene	DOID:14737	craniofrontonasal syndrome		ISO	RGD:1348155	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:17941886
1563178	Eda	ectodysplasin-A	gene	DOID:14793	hypohidrotic ectodermal dysplasia		ISO	RGD:1348155	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia	PMID:10951256|PMID:11279189|PMID:11295832|PMID:11309369|PMID:11378824|PMID:11416205|PMID:12930312|PMID:12949972|PMID:14656435|PMID:15461765|PMID:15663448|PMID:16199547|PMID:17066260|PMID:17576681|PMID:17970812|PMID:18076698|PMID:18231121|PMID:18384562|PMID:18386312|PMID:18386315|PMID:18427821|PMID:18451855|PMID:18510547|PMID:18545687|PMID:18657636|PMID:18666859|PMID:18821982|PMID:19278982|PMID:19533796|PMID:19592680|PMID:19623212|PMID:19921643|PMID:20236127|PMID:20374512|PMID:20486090|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:22382802|PMID:22428923|PMID:22633615|PMID:22875504|PMID:23293949|PMID:23553579|PMID:23744313|PMID:23926003|PMID:23989902|PMID:23991204|PMID:24033266|PMID:24279917|PMID:24312213|PMID:24330993|PMID:24487376|PMID:24648697|PMID:24689965|PMID:24724966|PMID:25333067|PMID:25626993|PMID:25741868|PMID:26273176|PMID:26345974|PMID:26634545|PMID:26753551|PMID:27054699|PMID:27144394|PMID:27305980|PMID:27538153|PMID:27657131|PMID:28045201|PMID:28492532|PMID:29444360|PMID:30117778|PMID:31306530|PMID:31796081|PMID:31924237|PMID:8696334|PMID:9507389|PMID:9536098|PMID:9630076|PMID:9683615|PMID:9736768|PMID:9856856
1563178	Eda	ectodysplasin-A	gene	DOID:14793	hypohidrotic ectodermal dysplasia		ISO	RGD:1557590	D	RGD:14398763|PMID:31028034	20190430	RGD			
1563178	Eda	ectodysplasin-A	gene	DOID:14793	hypohidrotic ectodermal dysplasia		ISS	RGD:1557590	D	RGD:13592920	20180518	MouseDO		OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100	
1563178	Eda	ectodysplasin-A	gene	DOID:1909	melanoma		ISO	RGD:1348155	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1563178	Eda	ectodysplasin-A	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anhidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:10951256|PMID:11279189|PMID:11295832|PMID:11309369|PMID:11378824|PMID:11416205|PMID:15663448|PMID:16583127|PMID:18076698|PMID:18231121|PMID:18510547|PMID:19278982|PMID:20236127|PMID:20374512|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:23553579|PMID:24033266|PMID:24487376|PMID:25333067|PMID:25741868|PMID:26411740|PMID:26753551|PMID:27144394|PMID:28492532|PMID:31129666|PMID:33179236|PMID:33205897|PMID:33943035|PMID:36071541|PMID:36294409|PMID:36939501|PMID:38129747|PMID:41277651|PMID:9683615|PMID:9736768
1563178	Eda	ectodysplasin-A	gene	DOID:4535	hypotrichosis		ISO	RGD:1348155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotrichosis	PMID:25741868
1563178	Eda	ectodysplasin-A	gene	DOID:630	genetic disease		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532
1563178	Eda	ectodysplasin-A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563178	Eda	ectodysplasin-A	gene	DOID:9000641	Pain		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pain	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532
1563178	Eda	ectodysplasin-A	gene	DOID:9000986	Selective Tooth Agenesis, X-Linked, 1		ISO	RGD:1348155	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563178	Eda	ectodysplasin-A	gene	DOID:9000986	Selective Tooth Agenesis, X-Linked, 1		ISO	RGD:1348155	D	RGD:7240710	20130221	OMIM			
1563178	Eda	ectodysplasin-A	gene	DOID:9000986	Selective Tooth Agenesis, X-Linked, 1		ISO	RGD:1348155	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: HYPODONTIA/OLIGODONTIA, X-LINKED, 1 | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 | ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1	PMID:11279189|PMID:11378824|PMID:11416205|PMID:12930312|PMID:14656435|PMID:16583127|PMID:17256800|PMID:18076698|PMID:18231121|PMID:18510547|PMID:18821982|PMID:19278982|PMID:19623212|PMID:20236127|PMID:20486090|PMID:20979233|PMID:21357618|PMID:22428923|PMID:23926003|PMID:23991204|PMID:24033266|PMID:24312213|PMID:24330993|PMID:25333067|PMID:25741868|PMID:26273176|PMID:26345974|PMID:26753551|PMID:27054699|PMID:27144394|PMID:27305980|PMID:27657131|PMID:28492532|PMID:30117778|PMID:31796081|PMID:34573371|PMID:35599849|PMID:38129747|PMID:8696334|PMID:9683615|PMID:9736768
1563178	Eda	ectodysplasin-A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1348155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1563178	Eda	ectodysplasin-A	gene	DOID:9002747	Selective Tooth Agenesis 2		ISO	RGD:1348155	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Tooth agenesis, selective, 2	PMID:25741868|PMID:30526585
1563178	Eda	ectodysplasin-A	gene	DOID:9003242	Paresthesia		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Paresthesia	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532
1563178	Eda	ectodysplasin-A	gene	DOID:9003507	Premature Birth		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532
1563178	Eda	ectodysplasin-A	gene	DOID:9006065	Arthralgia		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532
1563178	Eda	ectodysplasin-A	gene	DOID:9006743	Spasm		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532
1563178	Eda	ectodysplasin-A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348155	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:11279189|PMID:12932274|PMID:16583127|PMID:18510547|PMID:25741868|PMID:27264909|PMID:28045201|PMID:33222196|PMID:33622384
1563178	Eda	ectodysplasin-A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563179	Bcl6b	BCL6B, transcription repressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563179	Bcl6b	BCL6B, transcription repressor	gene	DOID:1115	sarcoma		ISO	RGD:1349060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563179	Bcl6b	BCL6B, transcription repressor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563190	Antxrl1	ANTXR like 1	gene	DOID:3275	thymoma		ISO	RGD:1602061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563190	Antxrl1	ANTXR like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563190	Antxrl1	ANTXR like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563190	Antxrl1	ANTXR like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563191	Tigit	T cell immunoreceptor with Ig and ITIM domains	gene	DOID:3275	thymoma		ISO	RGD:1606681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563191	Tigit	T cell immunoreceptor with Ig and ITIM domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563191	Tigit	T cell immunoreceptor with Ig and ITIM domains	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563191	Tigit	T cell immunoreceptor with Ig and ITIM domains	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:0060058	lymphoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:10283	prostate cancer		ISO	RGD:1348696	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:10283	prostate cancer		ISO	RGD:1348696	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:10534	stomach cancer		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:1115	sarcoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:1324	lung cancer		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:14228	oligospermia		ISO	RGD:1348696	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: therapeutic	PMID:34822792
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:1909	melanoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:2394	ovarian cancer		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:3070	high grade glioma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:3275	thymoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:4362	cervical cancer		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:6039	uveal melanoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:9002321	Teratozoospermia		ISO	RGD:1348696	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: therapeutic	PMID:34822792
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563192	Ythdc2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:9256	colorectal cancer		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1563195	Rangrf	RAN guanine nucleotide release factor	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1602892	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1563195	Rangrf	RAN guanine nucleotide release factor	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1602892	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:30847666|PMID:9536098
1563195	Rangrf	RAN guanine nucleotide release factor	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1602892	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: RYR2-related condition	PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:30821013|PMID:30847666|PMID:9536098
1563195	Rangrf	RAN guanine nucleotide release factor	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1602892	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:30821013|PMID:30847666|PMID:30975432|PMID:9536098
1563195	Rangrf	RAN guanine nucleotide release factor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IDA		D	RGD:6771380|PMID:8557821	20120731	RGD			
1563195	Rangrf	RAN guanine nucleotide release factor	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1602892	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1563202	Med11	mediator complex subunit 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563202	Med11	mediator complex subunit 11	gene	DOID:9009077	NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES		ISO	RGD:1606637	D	RGD:7240710	20230621	OMIM			
1563202	Med11	mediator complex subunit 11	gene	DOID:9009077	NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES		ISO	RGD:1606637	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities	PMID:25741868
1563202	Med11	mediator complex subunit 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563203	Samd10	sterile alpha motif domain containing 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563203	Samd10	sterile alpha motif domain containing 10	gene	DOID:1115	sarcoma		ISO	RGD:1351691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563203	Samd10	sterile alpha motif domain containing 10	gene	DOID:1909	melanoma		ISO	RGD:1351691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563203	Samd10	sterile alpha motif domain containing 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563205	Otulinl	OTU deubiquitinase with linear linkage specificity like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563205	Otulinl	OTU deubiquitinase with linear linkage specificity like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563205	Otulinl	OTU deubiquitinase with linear linkage specificity like	gene	DOID:3275	thymoma		ISO	RGD:1604002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563205	Otulinl	OTU deubiquitinase with linear linkage specificity like	gene	DOID:4362	cervical cancer		ISO	RGD:1604002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563205	Otulinl	OTU deubiquitinase with linear linkage specificity like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563205	Otulinl	OTU deubiquitinase with linear linkage specificity like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604002	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1563205	Otulinl	OTU deubiquitinase with linear linkage specificity like	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1563207	Epsti1	epithelial stromal interaction 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563207	Epsti1	epithelial stromal interaction 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563207	Epsti1	epithelial stromal interaction 1	gene	DOID:0080600	COVID-19		ISO	RGD:1353297	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1563207	Epsti1	epithelial stromal interaction 1	gene	DOID:0080600	COVID-19		ISO	RGD:1353297	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1563207	Epsti1	epithelial stromal interaction 1	gene	DOID:10283	prostate cancer		ISO	RGD:1353297	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1563207	Epsti1	epithelial stromal interaction 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563207	Epsti1	epithelial stromal interaction 1	gene	DOID:1324	lung cancer		ISO	RGD:1353297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563207	Epsti1	epithelial stromal interaction 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563207	Epsti1	epithelial stromal interaction 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563207	Epsti1	epithelial stromal interaction 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563207	Epsti1	epithelial stromal interaction 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563207	Epsti1	epithelial stromal interaction 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563207	Epsti1	epithelial stromal interaction 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563208	Gmeb1	glucocorticoid modulatory element binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563208	Gmeb1	glucocorticoid modulatory element binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1603227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563208	Gmeb1	glucocorticoid modulatory element binding protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1603227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563208	Gmeb1	glucocorticoid modulatory element binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563208	Gmeb1	glucocorticoid modulatory element binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563208	Gmeb1	glucocorticoid modulatory element binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563213	Gspt2	G1 to S phase transition 2	gene	DOID:12849	autistic disorder		ISO	RGD:1354196	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism	
1563216	Isca2	iron-sulfur cluster assembly 2	gene	DOID:0070330	multiple mitochondrial dysfunctions syndrome		ISO	RGD:1319881	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1563216	Isca2	iron-sulfur cluster assembly 2	gene	DOID:0070330	multiple mitochondrial dysfunctions syndrome		ISO	RGD:1319881	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome	PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947
1563216	Isca2	iron-sulfur cluster assembly 2	gene	DOID:0080136	multiple mitochondrial dysfunctions syndrome 4		ISO	RGD:1319881	D	RGD:7240710	20170315	OMIM			
1563216	Isca2	iron-sulfur cluster assembly 2	gene	DOID:0080136	multiple mitochondrial dysfunctions syndrome 4		ISO	RGD:1319881	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ISCA2-related condition | ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 | ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 4	PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28803783|PMID:29122497|PMID:29297947|PMID:29359243
1563216	Isca2	iron-sulfur cluster assembly 2	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1319881	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947
1563216	Isca2	iron-sulfur cluster assembly 2	gene	DOID:1324	lung cancer		ISO	RGD:1319881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563216	Isca2	iron-sulfur cluster assembly 2	gene	DOID:5723	optic atrophy		ISO	RGD:1319881	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947
1563216	Isca2	iron-sulfur cluster assembly 2	gene	DOID:630	genetic disease		ISO	RGD:1319881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1563216	Isca2	iron-sulfur cluster assembly 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1319881	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947
1563216	Isca2	iron-sulfur cluster assembly 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319881	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947
1563223	Zfp74	zinc finger protein 74	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563223	Zfp74	zinc finger protein 74	gene	DOID:4362	cervical cancer		ISO	RGD:1354291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563223	Zfp74	zinc finger protein 74	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563223	Zfp74	zinc finger protein 74	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563223	Zfp74	zinc finger protein 74	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1354291	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
1563224	Tmem65	transmembrane protein 65	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563224	Tmem65	transmembrane protein 65	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603356	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563224	Tmem65	transmembrane protein 65	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563224	Tmem65	transmembrane protein 65	gene	DOID:1909	melanoma		ISO	RGD:1603356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563224	Tmem65	transmembrane protein 65	gene	DOID:4362	cervical cancer		ISO	RGD:1603356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563224	Tmem65	transmembrane protein 65	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563224	Tmem65	transmembrane protein 65	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563224	Tmem65	transmembrane protein 65	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603356	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1563224	Tmem65	transmembrane protein 65	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563228	Dus3l	dihydrouridine synthase 3-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563228	Dus3l	dihydrouridine synthase 3-like	gene	DOID:0060058	lymphoma		ISO	RGD:1604330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1563228	Dus3l	dihydrouridine synthase 3-like	gene	DOID:1115	sarcoma		ISO	RGD:1604330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563228	Dus3l	dihydrouridine synthase 3-like	gene	DOID:1324	lung cancer		ISO	RGD:1604330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563228	Dus3l	dihydrouridine synthase 3-like	gene	DOID:3070	high grade glioma		ISO	RGD:1604330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563228	Dus3l	dihydrouridine synthase 3-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563228	Dus3l	dihydrouridine synthase 3-like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563228	Dus3l	dihydrouridine synthase 3-like	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1604330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1563228	Dus3l	dihydrouridine synthase 3-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563228	Dus3l	dihydrouridine synthase 3-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563228	Dus3l	dihydrouridine synthase 3-like	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1604330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1563228	Dus3l	dihydrouridine synthase 3-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563228	Dus3l	dihydrouridine synthase 3-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563235	Ccsap	centriole, cilia and spindle-associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1602440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563235	Ccsap	centriole, cilia and spindle-associated protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563235	Ccsap	centriole, cilia and spindle-associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563236	Yjefn3	YjeF N-terminal domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605797	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
1563236	Yjefn3	YjeF N-terminal domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1605797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563236	Yjefn3	YjeF N-terminal domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563237	C1h9orf40	similar to human chromosome 9 open reading frame 40	gene	DOID:1909	melanoma		ISO	RGD:1350600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563237	C1h9orf40	similar to human chromosome 9 open reading frame 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563238	Cyren	cell cycle regulator of NHEJ	gene	DOID:10534	stomach cancer		ISO	RGD:1602100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563238	Cyren	cell cycle regulator of NHEJ	gene	DOID:1115	sarcoma		ISO	RGD:1602100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563238	Cyren	cell cycle regulator of NHEJ	gene	DOID:1324	lung cancer		ISO	RGD:1602100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563238	Cyren	cell cycle regulator of NHEJ	gene	DOID:1909	melanoma		ISO	RGD:1602100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563238	Cyren	cell cycle regulator of NHEJ	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563238	Cyren	cell cycle regulator of NHEJ	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563238	Cyren	cell cycle regulator of NHEJ	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563238	Cyren	cell cycle regulator of NHEJ	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563239	Zfp566	zinc finger protein 566	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563239	Zfp566	zinc finger protein 566	gene	DOID:1115	sarcoma		ISO	RGD:1349368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563239	Zfp566	zinc finger protein 566	gene	DOID:5041	esophageal cancer		ISO	RGD:1349368	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563239	Zfp566	zinc finger protein 566	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563239	Zfp566	zinc finger protein 566	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:0050902	medulloblastoma		ISO	RGD:1607069	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:0050902	medulloblastoma		ISO	RGD:1607069	D	RGD:7240710	20221102	OMIM			
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:0050902	medulloblastoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GPR161-related disorder | ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma	PMID:25741868|PMID:28492532|PMID:29386106|PMID:31609649|PMID:33194646
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:1324	lung cancer		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:1909	melanoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:3070	high grade glioma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:4362	cervical cancer		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:9007661	Dwarfism		ISO	RGD:1607069	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25322266|PMID:25741868|PMID:28492532
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563245	Gpr161	G protein-coupled receptor 161	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:126734315	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:28492532
1563246	Rspo3	R-spondin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563246	Rspo3	R-spondin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1345376	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563246	Rspo3	R-spondin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563246	Rspo3	R-spondin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345376	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1563246	Rspo3	R-spondin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563246	Rspo3	R-spondin 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1345376	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468756
1563246	Rspo3	R-spondin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563248	Tmem130	transmembrane protein 130	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563248	Tmem130	transmembrane protein 130	gene	DOID:10534	stomach cancer		ISO	RGD:1605559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563248	Tmem130	transmembrane protein 130	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563248	Tmem130	transmembrane protein 130	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563248	Tmem130	transmembrane protein 130	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563250	Tmem205	transmembrane protein 205	gene	DOID:1909	melanoma		ISO	RGD:1605798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563250	Tmem205	transmembrane protein 205	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563250	Tmem205	transmembrane protein 205	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563250	Tmem205	transmembrane protein 205	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:0050441	mucosulfatidosis		ISO	RGD:1349479	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MULTIPLE SULFATASE DEFICIENCY	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349479	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1349479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:1909	melanoma		ISO	RGD:1349479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:3070	high grade glioma		ISO	RGD:1349479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:3275	thymoma		ISO	RGD:1349479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349479	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563253	Sumf2	sulfatase modifying factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563255	Gipc3	GIPC PDZ domain containing family, member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563255	Gipc3	GIPC PDZ domain containing family, member 3	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1606469	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonsyndromic hearing loss	PMID:25741868
1563255	Gipc3	GIPC PDZ domain containing family, member 3	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1606469	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	
1563255	Gipc3	GIPC PDZ domain containing family, member 3	gene	DOID:0110470	autosomal recessive nonsyndromic deafness 15		ISO	RGD:1606469	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:21326233
1563255	Gipc3	GIPC PDZ domain containing family, member 3	gene	DOID:0110470	autosomal recessive nonsyndromic deafness 15		ISO	RGD:1606469	D	RGD:7240710	20130221	OMIM			
1563255	Gipc3	GIPC PDZ domain containing family, member 3	gene	DOID:0110470	autosomal recessive nonsyndromic deafness 15		ISO	RGD:1606469	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 15 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 | ClinVar Annotator: match by term: GIPC3-related condition	PMID:23510777|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32747562|PMID:32864763
1563255	Gipc3	GIPC PDZ domain containing family, member 3	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:1606469	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia 3	PMID:25741868
1563255	Gipc3	GIPC PDZ domain containing family, member 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1606469	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:23510777|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32747562|PMID:32864763
1563255	Gipc3	GIPC PDZ domain containing family, member 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1606469	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss	
1563255	Gipc3	GIPC PDZ domain containing family, member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563255	Gipc3	GIPC PDZ domain containing family, member 3	gene	DOID:630	genetic disease		ISO	RGD:1606469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:28492532|PMID:30311386
1563255	Gipc3	GIPC PDZ domain containing family, member 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606469	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:25741868|PMID:30311386|PMID:32682410
1563255	Gipc3	GIPC PDZ domain containing family, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563260	Nap1l2	nucleosome assembly protein 1-like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1345486	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1563261	Pik3r5	phosphoinositide-3-kinase, regulatory subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563261	Pik3r5	phosphoinositide-3-kinase, regulatory subunit 5	gene	DOID:0050952	spastic ataxia		ISO	RGD:1346928	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
1563261	Pik3r5	phosphoinositide-3-kinase, regulatory subunit 5	gene	DOID:0060557	ataxia-oculomotor apraxia 3		ISO	RGD:1346928	D	RGD:7240710	20140903	OMIM			
1563261	Pik3r5	phosphoinositide-3-kinase, regulatory subunit 5	gene	DOID:0060557	ataxia-oculomotor apraxia 3		ISO	RGD:1346928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 | ClinVar Annotator: match by term: PIK3R5-related condition	PMID:25741868|PMID:28492532
1563261	Pik3r5	phosphoinositide-3-kinase, regulatory subunit 5	gene	DOID:1115	sarcoma		ISO	RGD:1346928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563261	Pik3r5	phosphoinositide-3-kinase, regulatory subunit 5	gene	DOID:1909	melanoma		ISO	RGD:1346928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563261	Pik3r5	phosphoinositide-3-kinase, regulatory subunit 5	gene	DOID:219	colon cancer		ISO	RGD:1346928	D	RGD:13432047|PMID:15123805	20170914	RGD		DNA:hypermethylation	
1563261	Pik3r5	phosphoinositide-3-kinase, regulatory subunit 5	gene	DOID:3275	thymoma		ISO	RGD:1346928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563261	Pik3r5	phosphoinositide-3-kinase, regulatory subunit 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563261	Pik3r5	phosphoinositide-3-kinase, regulatory subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563261	Pik3r5	phosphoinositide-3-kinase, regulatory subunit 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563261	Pik3r5	phosphoinositide-3-kinase, regulatory subunit 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563261	Pik3r5	phosphoinositide-3-kinase, regulatory subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563262	Tmem154	transmembrane protein 154	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563262	Tmem154	transmembrane protein 154	gene	DOID:1324	lung cancer		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563262	Tmem154	transmembrane protein 154	gene	DOID:3070	high grade glioma		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563262	Tmem154	transmembrane protein 154	gene	DOID:3275	thymoma		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563262	Tmem154	transmembrane protein 154	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563262	Tmem154	transmembrane protein 154	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563262	Tmem154	transmembrane protein 154	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1563262	Tmem154	transmembrane protein 154	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563262	Tmem154	transmembrane protein 154	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1563263	Frey1	Frey regulator of sperm-oocyte fusion 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3543119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563263	Frey1	Frey regulator of sperm-oocyte fusion 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3543119	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563268	Brsk1	BR serine/threonine kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353238	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563268	Brsk1	BR serine/threonine kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563268	Brsk1	BR serine/threonine kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563268	Brsk1	BR serine/threonine kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563268	Brsk1	BR serine/threonine kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563268	Brsk1	BR serine/threonine kinase 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:41035394
1563268	Brsk1	BR serine/threonine kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563268	Brsk1	BR serine/threonine kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563268	Brsk1	BR serine/threonine kinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563268	Brsk1	BR serine/threonine kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563268	Brsk1	BR serine/threonine kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563268	Brsk1	BR serine/threonine kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563269	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563269	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:0090063	familial cold autoinflammatory syndrome 2		ISO	RGD:1347798	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2	
1563269	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1347798	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1563269	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563269	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563269	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563269	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1347798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1563269	Rapgefl1	Rap guanine nucleotide exchange factor like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:0060058	lymphoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:10534	stomach cancer		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:1324	lung cancer		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:1909	melanoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1604809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563271	Gsap	gamma-secretase activating protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563272	Magec2	MAGE family member C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563272	Magec2	MAGE family member C2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563272	Magec2	MAGE family member C2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351080	D	RGD:11554173	20190416	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1563273	Zfp879	zinc finger protein 879	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3029695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563273	Zfp879	zinc finger protein 879	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3029695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1602727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1602727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:1909	melanoma		ISO	RGD:1602727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:3275	thymoma		ISO	RGD:1602727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1602727	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563278	Dzip3	DAZ interacting zinc finger protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563279	Sbk2	SH3 domain binding kinase family, member 2	gene	DOID:10534	stomach cancer		ISO	RGD:2302831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563279	Sbk2	SH3 domain binding kinase family, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563280	Rab33a	RAB33A, member RAS oncogene family	gene	DOID:0111741	X-linked deafness 5		ISO	RGD:11631269	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY	PMID:25741868|PMID:28492532
1563280	Rab33a	RAB33A, member RAS oncogene family	gene	DOID:10283	prostate cancer		ISO	RGD:1344985	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:28492532
1563280	Rab33a	RAB33A, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563280	Rab33a	RAB33A, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563281	Lrrc3c	leucine rich repeat containing 3C	gene	DOID:9415	allergic asthma		ISO	RGD:5131999	D	RGD:626419672|PMID:22732088	20250904	RGD		DNA:SNP:intron:rs4794820	
1563283	Tspyl2	TSPY-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563283	Tspyl2	TSPY-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563283	Tspyl2	TSPY-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563283	Tspyl2	TSPY-like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563283	Tspyl2	TSPY-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563283	Tspyl2	TSPY-like 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1346364	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104009
1563283	Tspyl2	TSPY-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563283	Tspyl2	TSPY-like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563286	Tmem164	transmembrane protein 164	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563286	Tmem164	transmembrane protein 164	gene	DOID:1324	lung cancer		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563286	Tmem164	transmembrane protein 164	gene	DOID:3275	thymoma		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563286	Tmem164	transmembrane protein 164	gene	DOID:4362	cervical cancer		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563286	Tmem164	transmembrane protein 164	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563286	Tmem164	transmembrane protein 164	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563286	Tmem164	transmembrane protein 164	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1604569	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1563286	Tmem164	transmembrane protein 164	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563286	Tmem164	transmembrane protein 164	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563290	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563290	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563290	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:0060058	lymphoma		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1563290	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1604601	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563290	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:1115	sarcoma		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563290	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:1909	melanoma		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563290	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:3275	thymoma		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563290	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563290	Pcyox1l	prenylcysteine oxidase 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1319696	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:0070261	congenital disorder of glycosylation type IIi		ISO	RGD:1319696	D	RGD:7240710	20130221	OMIM			
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:0070261	congenital disorder of glycosylation type IIi		ISO	RGD:1319696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COG5-CDG | ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIi	PMID:16199547|PMID:17576681|PMID:23228021|PMID:23430875|PMID:24033266|PMID:25331899|PMID:25640679|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28708303|PMID:29878199|PMID:31175295|PMID:31180159|PMID:32174980|PMID:33187827|PMID:33277529|PMID:9536098
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:1115	sarcoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:1909	melanoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:3070	high grade glioma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28492532
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:630	genetic disease		ISO	RGD:1319696	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:9006549	Enterovirus Infections		ISO	RGD:1319696	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28446605
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563296	Cog5	component of oligomeric golgi complex 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1563297	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563297	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:1115	sarcoma		ISO	RGD:1352189	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563297	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:305	carcinoma		ISO	RGD:1352189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carcinoma	PMID:25741868|PMID:37291585
1563297	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563297	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563297	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563297	Tfap2e	transcription factor AP-2 epsilon	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:0050561	Lennox-Gastaut syndrome		ISS	RGD:1323100	D	RGD:13592920	20180518	MouseDO		OMIM:606369	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:10534	stomach cancer		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:1115	sarcoma		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1323099	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:1324	lung cancer		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:1909	melanoma		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:3275	thymoma		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:4362	cervical cancer		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:5041	esophageal cancer		ISO	RGD:1323099	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563309	Dgkd	diacylglycerol kinase, delta	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1323099	D	RGD:11554173	20190409	CTD		CTD Direct Evidence: marker/mechanism	PMID:30718926
1563315	Fam53a	family with sequence similarity 53, member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563315	Fam53a	family with sequence similarity 53, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563315	Fam53a	family with sequence similarity 53, member A	gene	DOID:6039	uveal melanoma		ISO	RGD:1604984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1563315	Fam53a	family with sequence similarity 53, member A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563315	Fam53a	family with sequence similarity 53, member A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563315	Fam53a	family with sequence similarity 53, member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563315	Fam53a	family with sequence similarity 53, member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563321	Egfl6	EGF-like-domain, multiple 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563321	Egfl6	EGF-like-domain, multiple 6	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1354247	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Exstrophy-epispadias complex	PMID:25741868
1563321	Egfl6	EGF-like-domain, multiple 6	gene	DOID:10534	stomach cancer		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563321	Egfl6	EGF-like-domain, multiple 6	gene	DOID:3275	thymoma		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563321	Egfl6	EGF-like-domain, multiple 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563321	Egfl6	EGF-like-domain, multiple 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563323	Top6bl	TOP6B like initiator of meiotic double strand breaks	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563323	Top6bl	TOP6B like initiator of meiotic double strand breaks	gene	DOID:0070587	spermatogenic failure 88		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 88	
1563323	Top6bl	TOP6B like initiator of meiotic double strand breaks	gene	DOID:1324	lung cancer		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563323	Top6bl	TOP6B like initiator of meiotic double strand breaks	gene	DOID:1909	melanoma		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563323	Top6bl	TOP6B like initiator of meiotic double strand breaks	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563323	Top6bl	TOP6B like initiator of meiotic double strand breaks	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563323	Top6bl	TOP6B like initiator of meiotic double strand breaks	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563323	Top6bl	TOP6B like initiator of meiotic double strand breaks	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563323	Top6bl	TOP6B like initiator of meiotic double strand breaks	gene	DOID:9007235	Hydatidiform Mole, Recurrent, 4		ISO	RGD:1605958	D	RGD:7240710	20190619	OMIM			
1563323	Top6bl	TOP6B like initiator of meiotic double strand breaks	gene	DOID:9007235	Hydatidiform Mole, Recurrent, 4		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HYDATIDIFORM MOLE, RECURRENT, 4 | ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4	PMID:25741868|PMID:30388401
1563325	Tmem263	transmembrane protein 263	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563325	Tmem263	transmembrane protein 263	gene	DOID:1324	lung cancer		ISO	RGD:1602311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563325	Tmem263	transmembrane protein 263	gene	DOID:4362	cervical cancer		ISO	RGD:1602311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563325	Tmem263	transmembrane protein 263	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563328	Vstm5	V-set and transmembrane domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:2301112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:10283	prostate cancer		ISO	RGD:1603301	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:10283	prostate cancer		ISO	RGD:1603301	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:1115	sarcoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:1324	lung cancer		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:3275	thymoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603301	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563329	Dchs2	dachsous cadherin-related 2	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1603301	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:25741868
1563331	Btbd17	BTB domain containing 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2301265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563331	Btbd17	BTB domain containing 17	gene	DOID:4362	cervical cancer		ISO	RGD:2301265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563331	Btbd17	BTB domain containing 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2301265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563332	Eqtn	equatorin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563332	Eqtn	equatorin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563332	Eqtn	equatorin	gene	DOID:1115	sarcoma		ISO	RGD:1342522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563332	Eqtn	equatorin	gene	DOID:4362	cervical cancer		ISO	RGD:1342522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2303695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2303695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:0060058	lymphoma		ISO	RGD:2303695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:2303695	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:2303695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:1115	sarcoma		ISO	RGD:2303695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2303695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:3275	thymoma		ISO	RGD:2303695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:2303695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2303695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:2303695	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2303695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2303695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:2303695	D	RGD:8554872	20240917	ClinVar		ClinVar Annotator: match by term: FBRSL1-associated neurodevelopmental syndrome	PMID:25741868
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:2303695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:2303695	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2303695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563342	Fbrsl1	fibrosin-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2303695	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563347	Rftn1	raftlin lipid raft linker 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563347	Rftn1	raftlin lipid raft linker 1	gene	DOID:1686	glaucoma		IEP		D	RGD:155630605|PMID:28990066	20221025	RGD		mRNA:increased expression:optic nerve head (rat)	
1563347	Rftn1	raftlin lipid raft linker 1	gene	DOID:1686	glaucoma		ISO	RGD:1604380	D	RGD:155630605|PMID:28990066	20221025	RGD		mRNA:increased expression:optic nerve head (human)	
1563347	Rftn1	raftlin lipid raft linker 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563347	Rftn1	raftlin lipid raft linker 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563347	Rftn1	raftlin lipid raft linker 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563348	Selenoh	selenoprotein H	gene	DOID:0050860	colorectal adenoma		ISO	RGD:1354417	D	RGD:151665806|PMID:30469315	20220405	RGD		mRNA:increased expression:colorectum (human)	
1563348	Selenoh	selenoprotein H	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1354417	D	RGD:151665806|PMID:30469315	20220405	RGD		mRNA:increased expression:colorectum (human)	
1563349	Elapor2	endosome-lysosome associated apoptosis and autophagy regulator family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563349	Elapor2	endosome-lysosome associated apoptosis and autophagy regulator family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563349	Elapor2	endosome-lysosome associated apoptosis and autophagy regulator family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1603535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563349	Elapor2	endosome-lysosome associated apoptosis and autophagy regulator family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1603535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563349	Elapor2	endosome-lysosome associated apoptosis and autophagy regulator family member 2	gene	DOID:1909	melanoma		ISO	RGD:1603535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563349	Elapor2	endosome-lysosome associated apoptosis and autophagy regulator family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563349	Elapor2	endosome-lysosome associated apoptosis and autophagy regulator family member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563349	Elapor2	endosome-lysosome associated apoptosis and autophagy regulator family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563349	Elapor2	endosome-lysosome associated apoptosis and autophagy regulator family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563349	Elapor2	endosome-lysosome associated apoptosis and autophagy regulator family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563349	Elapor2	endosome-lysosome associated apoptosis and autophagy regulator family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563354	Kiaa1755	KIAA1755 ortholog	gene	DOID:10283	prostate cancer		ISO	RGD:2289756	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1563354	Kiaa1755	KIAA1755 ortholog	gene	DOID:10283	prostate cancer		ISO	RGD:2289756	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1563354	Kiaa1755	KIAA1755 ortholog	gene	DOID:10534	stomach cancer		ISO	RGD:2289756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563354	Kiaa1755	KIAA1755 ortholog	gene	DOID:1115	sarcoma		ISO	RGD:2289756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563354	Kiaa1755	KIAA1755 ortholog	gene	DOID:4362	cervical cancer		ISO	RGD:2289756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563354	Kiaa1755	KIAA1755 ortholog	gene	DOID:6039	uveal melanoma		ISO	RGD:2289756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1563354	Kiaa1755	KIAA1755 ortholog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2289756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563354	Kiaa1755	KIAA1755 ortholog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2289756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563354	Kiaa1755	KIAA1755 ortholog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2289756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563355	Zxda	zinc finger, X-linked, duplicated A	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1347860	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
1563357	Tlr7	toll-like receptor 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563357	Tlr7	toll-like receptor 7	gene	DOID:0080162	lupus nephritis		ISO	RGD:1558497	D	RGD:7246905|PMID:19944565	20130621	RGD			
1563357	Tlr7	toll-like receptor 7	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1353456	D	RGD:127284891|PMID:33650967	20210615	RGD		DNA:SNPs:Cds:	
1563357	Tlr7	toll-like receptor 7	gene	DOID:0081013	severe COVID-19		ISO	RGD:1353456	D	RGD:629146879|PMID:39861824	20260106	RGD		DNA:SNP:exon:p.Q11L (rs179008)	
1563357	Tlr7	toll-like receptor 7	gene	DOID:0081013	severe COVID-19		ISO	RGD:1353456	D	RGD:630350570|PMID:33780352	20260116	RGD		mRNA:decreased expression:blood	
1563357	Tlr7	toll-like receptor 7	gene	DOID:0081013	severe COVID-19	susceptibility	ISO	RGD:1353456	D	RGD:630350401|PMID:38868379	20260113	RGD		mRNA:increased expression:peripheral blood mononuclear cells	
1563357	Tlr7	toll-like receptor 7	gene	DOID:0112063	X-Linked immunodeficiency 74		ISO	RGD:1353456	D	RGD:7240710	20200902	OMIM			
1563357	Tlr7	toll-like receptor 7	gene	DOID:0112063	X-Linked immunodeficiency 74		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 74, COVID-19-related, X-linked | ClinVar Annotator: match by term: TLR7-related condition	PMID:25741868|PMID:28492532|PMID:32706371|PMID:34952932|PMID:35708626
1563357	Tlr7	toll-like receptor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1563357	Tlr7	toll-like receptor 7	gene	DOID:1115	sarcoma		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1563357	Tlr7	toll-like receptor 7	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1353456	D	RGD:40400714|PMID:23754510	20201103	RGD		mRNA,protein:increased expression:multiple (human)	
1563357	Tlr7	toll-like receptor 7	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1353456	D	RGD:5129471|PMID:19386802	20110330	RGD		associated with Bronchiolitis; mRNA:increased expression:nasopharynx (human)	
1563357	Tlr7	toll-like receptor 7	gene	DOID:1324	lung cancer		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1563357	Tlr7	toll-like receptor 7	gene	DOID:1470	major depressive disorder		ISO	RGD:1353456	D	RGD:634888054|PMID:25226551	20260303	RGD		mRNA:decreased expression:blood	
1563357	Tlr7	toll-like receptor 7	gene	DOID:1574	alcohol use disorder		ISO	RGD:1353456	D	RGD:597538499|PMID:34415075	20250124	RGD		mRNA:increased expression:orbitofrontal cortex	
1563357	Tlr7	toll-like receptor 7	gene	DOID:1883	hepatitis C		ISO	RGD:1353456	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:27385120
1563357	Tlr7	toll-like receptor 7	gene	DOID:1909	melanoma		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1563357	Tlr7	toll-like receptor 7	gene	DOID:2841	asthma	sexual_dimorphism	ISO	RGD:1353456	D	RGD:629146883|PMID:18682521	20260106	RGD		DNA:SNPs, haplotypes: :multiple	
1563357	Tlr7	toll-like receptor 7	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:1558497	D	RGD:7246909|PMID:18256364	20130621	RGD		mRNA:increased expression:renal glomerulus (mouse)	
1563357	Tlr7	toll-like receptor 7	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1353456	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
1563357	Tlr7	toll-like receptor 7	gene	DOID:3310	atopic dermatitis	sexual_dimorphism	ISO	RGD:1353456	D	RGD:629146883|PMID:18682521	20260106	RGD		DNA:SNPs, haplotypes: :multiple	
1563357	Tlr7	toll-like receptor 7	gene	DOID:4362	cervical cancer		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1563357	Tlr7	toll-like receptor 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1563357	Tlr7	toll-like receptor 7	gene	DOID:4481	allergic rhinitis	sexual_dimorphism	ISO	RGD:1353456	D	RGD:629146882|PMID:22857391	20260106	RGD		DNA:SNPs, haplotypes: :multiple	
1563357	Tlr7	toll-like receptor 7	gene	DOID:4483	rhinitis	sexual_dimorphism	ISO	RGD:1353456	D	RGD:629146883|PMID:18682521	20260106	RGD		DNA:SNPs, haplotypes: :multiple	
1563357	Tlr7	toll-like receptor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1563357	Tlr7	toll-like receptor 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353456	D	RGD:11554173	20200331	CTD		CTD Direct Evidence: marker/mechanism	PMID:24990399
1563357	Tlr7	toll-like receptor 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563357	Tlr7	toll-like receptor 7	gene	DOID:8677	perinatal necrotizing enterocolitis		IEP		D	RGD:5128779|PMID:19608731	20150819	RGD		mRNA:increased expression:ileum	
1563357	Tlr7	toll-like receptor 7	gene	DOID:9000889	Escherichia Coli Meningitis		ISO	RGD:1558497	D	RGD:7794740|PMID:12781911	20140109	RGD		mRNA:increased expression: :	
1563357	Tlr7	toll-like receptor 7	gene	DOID:9000955	Acute Otitis Media	sexual_dimorphism	ISO	RGD:1353456	D	RGD:629146884|PMID:28403045	20260106	RGD		associated with rhinovirus infections;DNA: SNP: : p.Q11L (rs179008)	
1563357	Tlr7	toll-like receptor 7	gene	DOID:9001314	Systemic Lupus Erythematosus 17		ISO	RGD:1353456	D	RGD:7240710	20220518	OMIM			
1563357	Tlr7	toll-like receptor 7	gene	DOID:9001314	Systemic Lupus Erythematosus 17		ISO	RGD:1353456	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SYSTEMIC LUPUS ERYTHEMATOSUS 17 | ClinVar Annotator: match by term: Systemic lupus erythematosus 17	PMID:25741868|PMID:28492532|PMID:35477763
1563357	Tlr7	toll-like receptor 7	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1353456	D	RGD:7800741|PMID:23157229	20140121	RGD		associated with Rhinosinusitis;mRNA,protein:increased expression:	
1563357	Tlr7	toll-like receptor 7	gene	DOID:9001499	Orthomyxoviridae Infections		ISO	RGD:1353456	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:22916010
1563357	Tlr7	toll-like receptor 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1563357	Tlr7	toll-like receptor 7	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1353456	D	RGD:630350565|PMID:26518209	20260115	RGD		mRNA:increased expression:nasal cavity mucosa	
1563357	Tlr7	toll-like receptor 7	gene	DOID:9009407	rhinovirus infections	susceptibility	ISO	RGD:1353456	D	RGD:629146884|PMID:28403045	20260106	RGD		DNA:SNP: :p.Q11L (rs179008)	
1563357	Tlr7	toll-like receptor 7	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:38324161
1563357	Tlr7	toll-like receptor 7	gene	DOID:9074	systemic lupus erythematosus		ISS	RGD:1558497	D	RGD:13592920	20180518	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
1563357	Tlr7	toll-like receptor 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1563359	Invs	inversin	gene	DOID:0080322	polycystic kidney disease	severity	ISO	RGD:1557314	D	RGD:155794378|PMID:16999740	20230106	RGD			
1563359	Invs	inversin	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1604022	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:12872123|PMID:16522655|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24677454|PMID:25525159|PMID:25741868|PMID:26489027|PMID:28492532|PMID:31131822|PMID:31308072|PMID:31328266|PMID:33323469|PMID:33532864|PMID:34426522
1563359	Invs	inversin	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:12872123|PMID:25741868|PMID:28492532|PMID:31308072|PMID:31706999
1563359	Invs	inversin	gene	DOID:0111113	nephronophthisis 2		ISO	RGD:1604022	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563359	Invs	inversin	gene	DOID:0111113	nephronophthisis 2		ISO	RGD:1604022	D	RGD:155791687|PMID:12872123	20230106	RGD		DNA:missense mutations, non-sense mutations, frameshift mutations:	
1563359	Invs	inversin	gene	DOID:0111113	nephronophthisis 2		ISO	RGD:1604022	D	RGD:7240710	20130221	OMIM			
1563359	Invs	inversin	gene	DOID:0111113	nephronophthisis 2		ISO	RGD:1604022	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INVS-related condition | ClinVar Annotator: match by term: Infantile nephronophthisis | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 2 | ClinVar Annotator: match by term: Nephronophthisis 2 | ClinVar Annotator: match by term: Nephronophthisis 2, infantile | ClinVar Annotator: match by term: nephronophthisis 2	PMID:12872123|PMID:15852005|PMID:16522655|PMID:17576681|PMID:19050042|PMID:19177160|PMID:21866095|PMID:24677454|PMID:25741868|PMID:28492532|PMID:31131822|PMID:31308072|PMID:31328266|PMID:31706999|PMID:33323469|PMID:33532864|PMID:34426522|PMID:37230223|PMID:9536098
1563359	Invs	inversin	gene	DOID:0111113	nephronophthisis 2		ISS	RGD:1557314	D	RGD:13592920	20230718	MouseDO		OMIM:602088	
1563359	Invs	inversin	gene	DOID:10534	stomach cancer		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1563359	Invs	inversin	gene	DOID:1074	kidney failure		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney failure	PMID:25741868|PMID:28492532
1563359	Invs	inversin	gene	DOID:10763	hypertension		ISO	RGD:1604022	D	RGD:155791686|PMID:19177160	20230106	RGD		associated with nephronophthisis 2;	
1563359	Invs	inversin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604022	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532|PMID:31308072|PMID:37230223
1563359	Invs	inversin	gene	DOID:12712	nephronophthisis		ISO	RGD:1604022	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:12872123|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:28492532|PMID:33532864|PMID:34298581|PMID:9536098
1563359	Invs	inversin	gene	DOID:12712	nephronophthisis		ISO	RGD:1604022	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:11935322|PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:32173348|PMID:32335886|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098
1563359	Invs	inversin	gene	DOID:12712	nephronophthisis		ISO	RGD:1604022	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:11935322|PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:22773737|PMID:23559409|PMID:23713026|PMID:24033266|PMID:24677454|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:31706999|PMID:32173348|PMID:32335886|PMID:33323469|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098
1563359	Invs	inversin	gene	DOID:12712	nephronophthisis		ISO	RGD:1604022	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:11935322|PMID:12872123|PMID:16199547|PMID:17576681|PMID:19177160|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26862157|PMID:28492532|PMID:30029678|PMID:31308072|PMID:31706999|PMID:32173348|PMID:32335886|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098
1563359	Invs	inversin	gene	DOID:12712	nephronophthisis		ISO	RGD:1604022	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:11935322|PMID:12872123|PMID:16199547|PMID:17576681|PMID:19177160|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26862157|PMID:28492532|PMID:30029678|PMID:31308072|PMID:31706999|PMID:32173348|PMID:32335886|PMID:34031707|PMID:34295353|PMID:34298581|PMID:37230223|PMID:9536098
1563359	Invs	inversin	gene	DOID:1324	lung cancer		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1563359	Invs	inversin	gene	DOID:13580	cholestasis		ISO	RGD:1557314	D	RGD:155791685|PMID:10421642	20230106	RGD			
1563359	Invs	inversin	gene	DOID:13929	lacrimal duct obstruction		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasolacrimal duct obstruction	PMID:12872123|PMID:25741868|PMID:28492532|PMID:31706999
1563359	Invs	inversin	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:12872123|PMID:25741868|PMID:28492532|PMID:31706999
1563359	Invs	inversin	gene	DOID:1909	melanoma		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563359	Invs	inversin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1563359	Invs	inversin	gene	DOID:2975	cystic kidney disease		ISO	RGD:1557314	D	RGD:155794377|PMID:24586938	20230106	RGD			
1563359	Invs	inversin	gene	DOID:3275	thymoma		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563359	Invs	inversin	gene	DOID:5041	esophageal cancer		ISO	RGD:1604022	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1563359	Invs	inversin	gene	DOID:5723	optic atrophy		ISO	RGD:1604022	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1563359	Invs	inversin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1563359	Invs	inversin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563359	Invs	inversin	gene	DOID:630	genetic disease		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1563359	Invs	inversin	gene	DOID:6419	tetralogy of Fallot		ISS	RGD:1557314	D	RGD:13592920	20180518	MouseDO		OMIM:187500	
1563359	Invs	inversin	gene	DOID:783	end stage renal disease		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:25741868|PMID:28492532
1563359	Invs	inversin	gene	DOID:8501	fundus dystrophy		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:24610927|PMID:25741868
1563359	Invs	inversin	gene	DOID:9004898	Jaundice		ISO	RGD:1557314	D	RGD:155791685|PMID:10421642	20230106	RGD			
1563359	Invs	inversin	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:12872123|PMID:25741868|PMID:28492532|PMID:31706999
1563359	Invs	inversin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563359	Invs	inversin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1563359	Invs	inversin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:0050866	oral squamous cell carcinoma	treatment	ISO	RGD:1349944	D	RGD:152600900|PMID:21176871	20220525	RGD			
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:10534	stomach cancer		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:1115	sarcoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:1324	lung cancer		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1349944	D	RGD:152599188|PMID:24338422	20220524	RGD		DNA:SNP: :rs989902(human)	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:1909	melanoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:219	colon cancer	treatment	ISO	RGD:1349944	D	RGD:152975627|PMID:29899829	20220527	RGD			
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:4142863|PMID:18096138	20220527	RGD		mRNA,protein:increased expression:cerebral cortex:	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:2843	long QT syndrome		ISO	RGD:1349944	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:3070	high grade glioma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:3275	thymoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1349944	D	RGD:152599189|PMID:10660140	20220524	RGD		protein:increased expression:stomach	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:3717	gastric adenocarcinoma	disease_progression	ISO	RGD:1349944	D	RGD:152975628|PMID:32536826	20220527	RGD			
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349944	D	RGD:152176663|PMID:22245727	20220510	RGD		mRNA,protein:decreased expression:lung	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:3907	lung squamous cell carcinoma	severity	ISO	RGD:1349944	D	RGD:152176664|PMID:23906871	20220510	RGD			
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1349944	D	RGD:152176665|PMID:19672627	20220510	RGD		DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1349944	D	RGD:152176663|PMID:22245727	20220510	RGD		mRNA,protein:decreased expression:lung	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1349944	D	RGD:152975626|PMID:33536603	20220527	RGD			
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1349944	D	RGD:152176665|PMID:19672627	20220510	RGD		DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:4362	cervical cancer		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:4556	lung large cell carcinoma		ISO	RGD:1349944	D	RGD:152176663|PMID:22245727	20220510	RGD		mRNA,protein:decreased expression:lung	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1349944	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:5520	head and neck squamous cell carcinoma	susceptibility	ISO	RGD:1349944	D	RGD:152176661|PMID:19892796	20220510	RGD		DNA:SNPs:cds:c.4566 A>G(I1522M)(rs2230600), c.6241 T>G (Y2081D)(rs989902)(human)	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:5520	head and neck squamous cell carcinoma	susceptibility	ISO	RGD:1349944	D	RGD:152176665|PMID:19672627	20220510	RGD		DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1349944	D	RGD:9068941	20220526	RGD			PMID:26801674|REF_RGD_ID:152176666
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1349944	D	RGD:152599190|PMID:16489062	20220524	RGD		DNA:SNP: :p.Y2081D(human)	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1349944	D	RGD:152176664|PMID:23906871	20220510	RGD		associated with  lung squamous cell carcinoma; protein:decreased expression:lymph node	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1349944	D	RGD:152176665|PMID:19672627	20220510	RGD		DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)	
1563360	Ptpn13	protein tyrosine phosphatase, non-receptor type 13	gene	DOID:9849	Meniere's disease		ISO	RGD:1349944	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Meniere disease	
1563363	Zfp536	zinc finger protein 536	gene	DOID:10534	stomach cancer		ISO	RGD:1351769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563363	Zfp536	zinc finger protein 536	gene	DOID:1324	lung cancer		ISO	RGD:1351769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563363	Zfp536	zinc finger protein 536	gene	DOID:1909	melanoma		ISO	RGD:1351769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563363	Zfp536	zinc finger protein 536	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1351769	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
1563363	Zfp536	zinc finger protein 536	gene	DOID:5041	esophageal cancer		ISO	RGD:1351769	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563363	Zfp536	zinc finger protein 536	gene	DOID:9002189	High Myopia		ISO	RGD:1351769	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1563363	Zfp536	zinc finger protein 536	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351769	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1563363	Zfp536	zinc finger protein 536	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1563365	Nopchap1	NOP protein chaperone 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563365	Nopchap1	NOP protein chaperone 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606744	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563365	Nopchap1	NOP protein chaperone 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563369	Ctps2	CTP synthase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563369	Ctps2	CTP synthase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563369	Ctps2	CTP synthase 2	gene	DOID:1324	lung cancer		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563369	Ctps2	CTP synthase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563369	Ctps2	CTP synthase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563369	Ctps2	CTP synthase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563369	Ctps2	CTP synthase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1563369	Ctps2	CTP synthase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563369	Ctps2	CTP synthase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563369	Ctps2	CTP synthase 2	gene	DOID:9256	colorectal cancer	resistance	ISO	RGD:1602693	D	RGD:5132879|PMID:21378502	20110606	RGD		mRNA:increased expression:tumor (human)	
1563372	Fundc1	FUN14 domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563372	Fundc1	FUN14 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563372	Fundc1	FUN14 domain containing 1	gene	DOID:9002669	Hypoxia		ISO	RGD:1557033	D	RGD:12738373|PMID:22267086	20170202	RGD		protein:decreased expression:brain (mouse)	
1563372	Fundc1	FUN14 domain containing 1	gene	DOID:9002669	Hypoxia	severity	ISO	RGD:1557033	D	RGD:12738374|PMID:27995894	20170202	RGD			
1563372	Fundc1	FUN14 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563372	Fundc1	FUN14 domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351437	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:0060249	scoliosis		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:1115	sarcoma		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:1324	lung cancer		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:2559	opiate dependence		ISO	RGD:1604514	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:1604514	D	RGD:401851917|PMID:18438686	20231031	RGD		DNA:SNP:: (rs731844) (human)	
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:420	hypertrichosis		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1604514	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:630	genetic disease		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604514	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:9000836	Diaphanospondylodysostosis		ISO	RGD:1604514	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:9000836	Diaphanospondylodysostosis		ISO	RGD:1604514	D	RGD:7240710	20141015	OMIM			
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:9000836	Diaphanospondylodysostosis		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BMPER-related condition | ClinVar Annotator: match by term: DIAPHANOSPONDYLODYSOSTOSIS | ClinVar Annotator: match by term: Diaphanospondylodysostosis | ClinVar Annotator: match by term: VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS	PMID:20869035|PMID:21990102|PMID:25741868|PMID:28492532|PMID:30006055
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:9007661	Dwarfism		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1563373	Bmper	BMP-binding endothelial regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1563377	Htatsf1	HIV-1 Tat specific factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563377	Htatsf1	HIV-1 Tat specific factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563377	Htatsf1	HIV-1 Tat specific factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563377	Htatsf1	HIV-1 Tat specific factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:0050847	sleep apnea		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:0111434	optic atrophy 10		ISO	RGD:1348834	D	RGD:7240710	20160210	OMIM			
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:0111434	optic atrophy 10		ISO	RGD:1348834	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES | ClinVar Annotator: match by term: RTN4IP1-related condition	PMID:25741868|PMID:28492532|PMID:31077085
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:12859	choreatic disease		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868|PMID:28492532|PMID:33037779
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:1432	blindness		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:25741868
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:3650	lactic acidosis		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348834	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:480	movement disease		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:535	sleep disorder		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:539	ophthalmoplegia		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ophthalmoplegia	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:5723	optic atrophy		ISO	RGD:1348834	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:26593267|PMID:28492532|PMID:28638143|PMID:29181510|PMID:32392611|PMID:32855858|PMID:33315831|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:630	genetic disease		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26593267|PMID:28492532|PMID:28638143|PMID:29181510|PMID:32392611|PMID:32855858|PMID:33315831|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9000631	Hyper-Beta-Alaninemia		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyper-beta-alaninemia	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9000831	Hypokinesia		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9002554	Tachycardia		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9007722	Myoclonus		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:28492532|PMID:29181510|PMID:33841295
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9649	congenital nystagmus		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:25741868
1563384	Rtn4ip1	reticulon 4 interacting protein 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:29181510|PMID:33841295
1563386	Serhl2	serine hydrolase-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563386	Serhl2	serine hydrolase-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563386	Serhl2	serine hydrolase-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1602055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563386	Serhl2	serine hydrolase-like 2	gene	DOID:1909	melanoma		ISO	RGD:1602055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563386	Serhl2	serine hydrolase-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602055	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563386	Serhl2	serine hydrolase-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563386	Serhl2	serine hydrolase-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563386	Serhl2	serine hydrolase-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563386	Serhl2	serine hydrolase-like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563388	Efhc2	EF-hand domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563388	Efhc2	EF-hand domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563388	Efhc2	EF-hand domain containing 2	gene	DOID:12849	autistic disorder		ISO	RGD:1348000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:17221867|PMID:25741868
1563388	Efhc2	EF-hand domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1348000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563388	Efhc2	EF-hand domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348000	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563388	Efhc2	EF-hand domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563388	Efhc2	EF-hand domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563388	Efhc2	EF-hand domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563388	Efhc2	EF-hand domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563393	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563393	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563393	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:2661	myoepithelioma		ISO	RGD:1354274	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1563393	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1354274	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563393	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563393	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563393	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1563393	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563393	Qtman	queuosine-tRNA mannosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563395	Cinp	cyclin-dependent kinase 2-interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563395	Cinp	cyclin-dependent kinase 2-interacting protein	gene	DOID:1059	intellectual disability		ISO	RGD:1602222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:26539891
1563395	Cinp	cyclin-dependent kinase 2-interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1602222	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563395	Cinp	cyclin-dependent kinase 2-interacting protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1563395	Cinp	cyclin-dependent kinase 2-interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563395	Cinp	cyclin-dependent kinase 2-interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563397	Pcf11	PCF11 cleavage and polyadenylation factor subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563397	Pcf11	PCF11 cleavage and polyadenylation factor subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1604812	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563397	Pcf11	PCF11 cleavage and polyadenylation factor subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563397	Pcf11	PCF11 cleavage and polyadenylation factor subunit	gene	DOID:3275	thymoma		ISO	RGD:1604812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563397	Pcf11	PCF11 cleavage and polyadenylation factor subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1604812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563397	Pcf11	PCF11 cleavage and polyadenylation factor subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604812	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563397	Pcf11	PCF11 cleavage and polyadenylation factor subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563397	Pcf11	PCF11 cleavage and polyadenylation factor subunit	gene	DOID:8761	acute megakaryocytic leukemia		ISO	RGD:1604812	D	RGD:8554872	20160112	ClinVar		ClinVar Annotator: match by term: Acute megakaryoblastic leukemia	
1563397	Pcf11	PCF11 cleavage and polyadenylation factor subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563397	Pcf11	PCF11 cleavage and polyadenylation factor subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563398	Topaz1	testis and ovary specific TOPAZ 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2311615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563398	Topaz1	testis and ovary specific TOPAZ 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2311615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563403	Fam110b	family with sequence similarity 110, member B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563403	Fam110b	family with sequence similarity 110, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563403	Fam110b	family with sequence similarity 110, member B	gene	DOID:1324	lung cancer		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563403	Fam110b	family with sequence similarity 110, member B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563403	Fam110b	family with sequence similarity 110, member B	gene	DOID:3275	thymoma		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563403	Fam110b	family with sequence similarity 110, member B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563403	Fam110b	family with sequence similarity 110, member B	gene	DOID:5041	esophageal cancer		ISO	RGD:1605314	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563403	Fam110b	family with sequence similarity 110, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563403	Fam110b	family with sequence similarity 110, member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563403	Fam110b	family with sequence similarity 110, member B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563409	Vcf1	VCP nuclear cofactor family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1602856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563409	Vcf1	VCP nuclear cofactor family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563409	Vcf1	VCP nuclear cofactor family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563409	Vcf1	VCP nuclear cofactor family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563411	Micu3	mitochondrial calcium uptake 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563411	Micu3	mitochondrial calcium uptake 3	gene	DOID:1115	sarcoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563411	Micu3	mitochondrial calcium uptake 3	gene	DOID:1324	lung cancer		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563411	Micu3	mitochondrial calcium uptake 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563411	Micu3	mitochondrial calcium uptake 3	gene	DOID:3275	thymoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563411	Micu3	mitochondrial calcium uptake 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563411	Micu3	mitochondrial calcium uptake 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1563411	Micu3	mitochondrial calcium uptake 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563411	Micu3	mitochondrial calcium uptake 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563411	Micu3	mitochondrial calcium uptake 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563415	Rspo4	R-spondin 4	gene	DOID:0080082	nonsyndromic congenital nail disorder 4		ISO	RGD:1344766	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563415	Rspo4	R-spondin 4	gene	DOID:0080082	nonsyndromic congenital nail disorder 4		ISO	RGD:1344766	D	RGD:7240710	20190123	OMIM			
1563415	Rspo4	R-spondin 4	gene	DOID:0080082	nonsyndromic congenital nail disorder 4		ISO	RGD:1344766	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 | ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 4 | ClinVar Annotator: match by term: RSPO4-related condition	PMID:25741868
1563415	Rspo4	R-spondin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563415	Rspo4	R-spondin 4	gene	DOID:12361	Graves' disease		ISO	RGD:1344766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Graves disease	PMID:25741868
1563415	Rspo4	R-spondin 4	gene	DOID:3275	thymoma		ISO	RGD:1344766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563415	Rspo4	R-spondin 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563415	Rspo4	R-spondin 4	gene	DOID:630	genetic disease		ISO	RGD:1344766	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1563415	Rspo4	R-spondin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563415	Rspo4	R-spondin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563415	Rspo4	R-spondin 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:1606809	D	RGD:7240710	20130221	OMIM			
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:1606809	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4	PMID:11326085|PMID:11897284|PMID:12016260|PMID:12464675|PMID:12535754|PMID:12788851|PMID:12958143|PMID:14717060|PMID:15485476|PMID:15599766|PMID:16199547|PMID:17576681|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:24448499|PMID:25647241|PMID:25670367|PMID:25741868|PMID:25911074|PMID:26723464|PMID:27247956|PMID:28353356|PMID:28492532|PMID:28958330|PMID:28964736|PMID:28965616|PMID:29153781|PMID:29245109|PMID:29396260|PMID:30318064|PMID:31589614|PMID:32041611|PMID:32636080|PMID:32770674|PMID:32878475|PMID:33111339|PMID:33116287|PMID:34037665|PMID:34389451|PMID:34756585|PMID:35047021|PMID:4351242|PMID:7628519|PMID:9536098
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:1606809	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4	PMID:11326085|PMID:11897284|PMID:12016260|PMID:12464675|PMID:12535754|PMID:12788851|PMID:12958143|PMID:14717060|PMID:15485476|PMID:15599766|PMID:16199547|PMID:17576681|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:24448499|PMID:25647241|PMID:25670367|PMID:25741868|PMID:25911074|PMID:26723464|PMID:27247956|PMID:28353356|PMID:28492532|PMID:28958330|PMID:28964736|PMID:28965616|PMID:29153781|PMID:29245109|PMID:29396260|PMID:30318064|PMID:31589614|PMID:32041611|PMID:32636080|PMID:32770674|PMID:32878475|PMID:33111339|PMID:33116287|PMID:33994332|PMID:34037665|PMID:34389451|PMID:34756585|PMID:35047021|PMID:4351242|PMID:7628519|PMID:9536098
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:1606809	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4	PMID:11326085|PMID:11897284|PMID:12016260|PMID:12464675|PMID:12535754|PMID:12788851|PMID:12958143|PMID:14717060|PMID:15485476|PMID:15599766|PMID:16199547|PMID:17576681|PMID:17686643|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:24448499|PMID:25647241|PMID:25670367|PMID:25741868|PMID:25911074|PMID:26723464|PMID:27247956|PMID:27784735|PMID:28353356|PMID:28492532|PMID:28958330|PMID:28964736|PMID:28965616|PMID:29153781|PMID:29245109|PMID:29396260|PMID:30795984|PMID:31589614|PMID:32041611|PMID:32636080|PMID:32770674|PMID:32878475|PMID:33111339|PMID:33116287|PMID:33994332|PMID:34037665|PMID:34389451|PMID:34629743|PMID:34756585|PMID:35047021|PMID:4351242|PMID:7628519|PMID:9536098
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:1606809	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4	PMID:11326085|PMID:12016260|PMID:12464675|PMID:15485476|PMID:16199547|PMID:17576681|PMID:17686643|PMID:24033266|PMID:25647241|PMID:25741868|PMID:27247956|PMID:27784735|PMID:28492532|PMID:28958330|PMID:28965616|PMID:29245109|PMID:30318064|PMID:32041611|PMID:32878475|PMID:34037665|PMID:34756585|PMID:9536098
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:1606809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Familial hypercholesterolemia 4 | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4	PMID:11326085|PMID:12016260|PMID:12464675|PMID:15485476|PMID:16199547|PMID:17576681|PMID:17686643|PMID:23510778|PMID:24033266|PMID:25647241|PMID:25741868|PMID:25911074|PMID:27247956|PMID:27784735|PMID:28353356|PMID:28492532|PMID:28958330|PMID:28965616|PMID:29245109|PMID:30318064|PMID:30795984|PMID:32041611|PMID:32770674|PMID:32878475|PMID:34037665|PMID:34756585|PMID:35047021|PMID:9536098
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISS	RGD:1614243	D	RGD:13592920	20230718	MouseDO		OMIM:603813	
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1606809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial Hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:11326085|PMID:11897284|PMID:12016260|PMID:12464675|PMID:12535754|PMID:12788851|PMID:12958143|PMID:14717060|PMID:15485476|PMID:16199547|PMID:16343504|PMID:17576681|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:25647241|PMID:25670367|PMID:25741868|PMID:26723464|PMID:27079874|PMID:27247956|PMID:27784735|PMID:28492532|PMID:28964736|PMID:28965616|PMID:29153781|PMID:29245109|PMID:29396260|PMID:30318064|PMID:30777337|PMID:31734096|PMID:32041611|PMID:32636080|PMID:32770674|PMID:32936664|PMID:33111339|PMID:33938231|PMID:33994332|PMID:34037665|PMID:34389451|PMID:34629743|PMID:35339733|PMID:39769230|PMID:40422968|PMID:4351242|PMID:9536098
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1606809	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemias	PMID:11326085|PMID:11897284|PMID:12016260|PMID:12464675|PMID:12535754|PMID:12788851|PMID:14717060|PMID:15485476|PMID:16199547|PMID:16343504|PMID:17576681|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:25647241|PMID:25670367|PMID:25741868|PMID:26723464|PMID:27079874|PMID:27247956|PMID:27784735|PMID:28492532|PMID:28964736|PMID:28965616|PMID:29153781|PMID:29245109|PMID:29396260|PMID:30318064|PMID:30777337|PMID:30971288|PMID:31734096|PMID:32041611|PMID:32636080|PMID:32770674|PMID:32936664|PMID:33111339|PMID:33938231|PMID:33994332|PMID:34037665|PMID:34389451|PMID:34629743|PMID:35339733|PMID:39769230|PMID:40422968|PMID:9536098
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1606809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia	PMID:11326085|PMID:11897284|PMID:12016260|PMID:12464675|PMID:12535754|PMID:12788851|PMID:14717060|PMID:15485476|PMID:16199547|PMID:16343504|PMID:17576681|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:25647241|PMID:25670367|PMID:25741868|PMID:26723464|PMID:27079874|PMID:27247956|PMID:27784735|PMID:28492532|PMID:28964736|PMID:28965616|PMID:29153781|PMID:29245109|PMID:29396260|PMID:30318064|PMID:30777337|PMID:30971288|PMID:31734096|PMID:32041611|PMID:32636080|PMID:32770674|PMID:32936664|PMID:33111339|PMID:33938231|PMID:33994332|PMID:34037665|PMID:34389451|PMID:34629743|PMID:35047021|PMID:35339733|PMID:39769230|PMID:40422968|PMID:9536098
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:1909	melanoma		ISO	RGD:1606809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:3145	hyperlipoproteinemia type III		ISO	RGD:1606809	D	RGD:11554173	20240305	CTD		CTD Direct Evidence: marker/mechanism	
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:3275	thymoma		ISO	RGD:1606809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606809	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1606809	D	RGD:1626107|PMID:15599766	20070711	RGD			
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1606809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:11326085|PMID:12464675|PMID:16199547|PMID:25741868|PMID:28492532
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:1606809	D	RGD:1626106|PMID:17380167	20070711	RGD			
1563417	Ldlrap1	low density lipoprotein receptor adaptor protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563421	Fyb1	FYN binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
1563421	Fyb1	FYN binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
1563421	Fyb1	FYN binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1563421	Fyb1	FYN binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
1563421	Fyb1	FYN binding protein 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1603714	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
1563421	Fyb1	FYN binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1563421	Fyb1	FYN binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
1563421	Fyb1	FYN binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603714	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563421	Fyb1	FYN binding protein 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
1563421	Fyb1	FYN binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1563421	Fyb1	FYN binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1563421	Fyb1	FYN binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1563421	Fyb1	FYN binding protein 1	gene	DOID:9002574	Thrombocytopenia 3		ISO	RGD:1603714	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563421	Fyb1	FYN binding protein 1	gene	DOID:9002574	Thrombocytopenia 3		ISO	RGD:1603714	D	RGD:7240710	20190315	OMIM			
1563421	Fyb1	FYN binding protein 1	gene	DOID:9002574	Thrombocytopenia 3		ISO	RGD:1603714	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FYB1-related condition | ClinVar Annotator: match by term: THROMBOCYTOPENIA 3 | ClinVar Annotator: match by term: Thrombocytopenia 3	PMID:25741868|PMID:28748566
1563421	Fyb1	FYN binding protein 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
1563421	Fyb1	FYN binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563421	Fyb1	FYN binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563421	Fyb1	FYN binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
1563425	Saxo5	stabilizer of axonemal microtubules 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563425	Saxo5	stabilizer of axonemal microtubules 5	gene	DOID:10534	stomach cancer		ISO	RGD:1602810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563425	Saxo5	stabilizer of axonemal microtubules 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563425	Saxo5	stabilizer of axonemal microtubules 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563425	Saxo5	stabilizer of axonemal microtubules 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563425	Saxo5	stabilizer of axonemal microtubules 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563429	Lrrc8b	leucine rich repeat containing 8 VRAC subunit B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606820	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563429	Lrrc8b	leucine rich repeat containing 8 VRAC subunit B	gene	DOID:3070	high grade glioma		ISO	RGD:1606820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563429	Lrrc8b	leucine rich repeat containing 8 VRAC subunit B	gene	DOID:4362	cervical cancer		ISO	RGD:1606820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563429	Lrrc8b	leucine rich repeat containing 8 VRAC subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563429	Lrrc8b	leucine rich repeat containing 8 VRAC subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563434	Shroom4	shroom family member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563434	Shroom4	shroom family member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563434	Shroom4	shroom family member 4	gene	DOID:0060058	lymphoma		ISO	RGD:1606521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1563434	Shroom4	shroom family member 4	gene	DOID:0112126	Stocco Dos Santos type X-linked intellectual disability		ISO	RGD:1606521	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type | ClinVar Annotator: match by term: Stocco dos Santos syndrome | ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type	PMID:16249884|PMID:25741868
1563434	Shroom4	shroom family member 4	gene	DOID:1059	intellectual disability		ISO	RGD:1606521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1563434	Shroom4	shroom family member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606521	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563434	Shroom4	shroom family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563434	Shroom4	shroom family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563435	Ophn1	oligophrenin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563435	Ophn1	oligophrenin 1	gene	DOID:0050888	syndromic intellectual disability		ISS	RGD:1557080	D	RGD:13592920	20180518	MouseDO		OMIM:300486 | OMIM:300860 | OMIM:309583	
1563435	Ophn1	oligophrenin 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1345567	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:0060260	ptosis		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
1563435	Ophn1	oligophrenin 1	gene	DOID:0060313	tracheomalacia		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	
1563435	Ophn1	oligophrenin 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	PMID:25741868|PMID:28492532|PMID:31474318|PMID:33638601
1563435	Ophn1	oligophrenin 1	gene	DOID:0080311	Billuart-type X-linked syndromic intellectual developmental disorder		ISO	RGD:1345567	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563435	Ophn1	oligophrenin 1	gene	DOID:0080311	Billuart-type X-linked syndromic intellectual developmental disorder		ISO	RGD:1345567	D	RGD:13207443|PMID:24105372	20170801	RGD		DNA:deletion:exon 7:r.487_597del (c.781_891del) (human)	
1563435	Ophn1	oligophrenin 1	gene	DOID:0080311	Billuart-type X-linked syndromic intellectual developmental disorder		ISO	RGD:1345567	D	RGD:13207444|PMID:20528889	20170801	RGD		DNA:deletion:exon, intron	
1563435	Ophn1	oligophrenin 1	gene	DOID:0080311	Billuart-type X-linked syndromic intellectual developmental disorder		ISO	RGD:1345567	D	RGD:13207445|PMID:12807966	20170801	RGD		DNA:duplication:exon: c.1385insAAGAATTC (human)	
1563435	Ophn1	oligophrenin 1	gene	DOID:0080311	Billuart-type X-linked syndromic intellectual developmental disorder		ISO	RGD:1345567	D	RGD:13207446|PMID:18261018	20170801	RGD		DNA:deletion:exon, intron	
1563435	Ophn1	oligophrenin 1	gene	DOID:0080311	Billuart-type X-linked syndromic intellectual developmental disorder		ISO	RGD:1345567	D	RGD:13207450|PMID:16158428	20170801	RGD		DNA:deletion:exon:p.T214fs34* (human)	
1563435	Ophn1	oligophrenin 1	gene	DOID:0080311	Billuart-type X-linked syndromic intellectual developmental disorder		ISO	RGD:1345567	D	RGD:7240710	20130221	OMIM			
1563435	Ophn1	oligophrenin 1	gene	DOID:0080311	Billuart-type X-linked syndromic intellectual developmental disorder		ISO	RGD:1345567	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART-TYPE | ClinVar Annotator: match by term: Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance | ClinVar Annotator: match by term: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | ClinVar Annotator: match by term: OPHN1-related condition | ClinVar Annotator: match by term: OPHN1-related disorder	PMID:10818214|PMID:12807966|PMID:16199547|PMID:16221952|PMID:18414213|PMID:25649377|PMID:25741868|PMID:26350204|PMID:26467025|PMID:28492532|PMID:30293248
1563435	Ophn1	oligophrenin 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1563435	Ophn1	oligophrenin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563435	Ophn1	oligophrenin 1	gene	DOID:1059	intellectual disability		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532|PMID:33638601
1563435	Ophn1	oligophrenin 1	gene	DOID:10907	microcephaly		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1563435	Ophn1	oligophrenin 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:33638601
1563435	Ophn1	oligophrenin 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563435	Ophn1	oligophrenin 1	gene	DOID:1143	exotropia		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:11830	myopia		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1563435	Ophn1	oligophrenin 1	gene	DOID:12849	autistic disorder		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:12807966|PMID:16199547|PMID:25741868|PMID:28492532
1563435	Ophn1	oligophrenin 1	gene	DOID:13929	lacrimal duct obstruction		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasolacrimal duct obstruction	
1563435	Ophn1	oligophrenin 1	gene	DOID:14737	craniofrontonasal syndrome		ISO	RGD:1345567	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:17941886
1563435	Ophn1	oligophrenin 1	gene	DOID:1596	depressive disorder		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1563435	Ophn1	oligophrenin 1	gene	DOID:1826	epilepsy		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:1909	melanoma		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563435	Ophn1	oligophrenin 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1563435	Ophn1	oligophrenin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563435	Ophn1	oligophrenin 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
1563435	Ophn1	oligophrenin 1	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:2841	asthma		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1563435	Ophn1	oligophrenin 1	gene	DOID:4188	echolalia		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345567	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563435	Ophn1	oligophrenin 1	gene	DOID:540	strabismus		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:33638601
1563435	Ophn1	oligophrenin 1	gene	DOID:543	dystonia		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563435	Ophn1	oligophrenin 1	gene	DOID:630	genetic disease		ISO	RGD:1345567	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10818214|PMID:16221952|PMID:18414213|PMID:23552953|PMID:24105372|PMID:25741868|PMID:26467025|PMID:26542245|PMID:28492532|PMID:31131953|PMID:33638601
1563435	Ophn1	oligophrenin 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1563435	Ophn1	oligophrenin 1	gene	DOID:9001581	Constipation		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1563435	Ophn1	oligophrenin 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1345567	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17941886
1563435	Ophn1	oligophrenin 1	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1345567	D	RGD:13207441|PMID:21796728	20170801	RGD		DNA:frameshift mutation:exon:p.P199_V200insEFSLLMNGLKIFIKCL (human)	
1563435	Ophn1	oligophrenin 1	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1345567	D	RGD:13207442|PMID:12805098	20170801	RGD		DNA:deletion:exon	
1563435	Ophn1	oligophrenin 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:12807966|PMID:16199547|PMID:25741868|PMID:28492532
1563435	Ophn1	oligophrenin 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Calcaneovalgus deformity	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1563435	Ophn1	oligophrenin 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:33638601
1563435	Ophn1	oligophrenin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563435	Ophn1	oligophrenin 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
1563435	Ophn1	oligophrenin 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:33638601
1563437	Etl4	enhancer trap locus 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563437	Etl4	enhancer trap locus 4	gene	DOID:10534	stomach cancer		ISO	RGD:1352431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563437	Etl4	enhancer trap locus 4	gene	DOID:1115	sarcoma		ISO	RGD:1352431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563437	Etl4	enhancer trap locus 4	gene	DOID:1324	lung cancer		ISO	RGD:1352431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563437	Etl4	enhancer trap locus 4	gene	DOID:1909	melanoma		ISO	RGD:1352431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563437	Etl4	enhancer trap locus 4	gene	DOID:3275	thymoma		ISO	RGD:1352431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563437	Etl4	enhancer trap locus 4	gene	DOID:4362	cervical cancer		ISO	RGD:1352431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563437	Etl4	enhancer trap locus 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563437	Etl4	enhancer trap locus 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1352431	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563437	Etl4	enhancer trap locus 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563437	Etl4	enhancer trap locus 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563437	Etl4	enhancer trap locus 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563439	Nipal3	NIPA-like domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563439	Nipal3	NIPA-like domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563439	Nipal3	NIPA-like domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563439	Nipal3	NIPA-like domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1603619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563439	Nipal3	NIPA-like domain containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563439	Nipal3	NIPA-like domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563439	Nipal3	NIPA-like domain containing 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1603619	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17173048
1563439	Nipal3	NIPA-like domain containing 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603619	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1563439	Nipal3	NIPA-like domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563439	Nipal3	NIPA-like domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563441	Rnf227	ring finger protein 227	gene	DOID:10534	stomach cancer		ISO	RGD:13434539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563442	Zfp385c	zinc finger protein 385C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563442	Zfp385c	zinc finger protein 385C	gene	DOID:3275	thymoma		ISO	RGD:1604507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563442	Zfp385c	zinc finger protein 385C	gene	DOID:5041	esophageal cancer		ISO	RGD:1604507	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563442	Zfp385c	zinc finger protein 385C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563442	Zfp385c	zinc finger protein 385C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563442	Zfp385c	zinc finger protein 385C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563443	Usp26	ubiquitin specific peptidase 26	gene	DOID:0070597	X-linked spermatogenic failure 6		ISO	RGD:1354275	D	RGD:7240710	20230505	OMIM			
1563443	Usp26	ubiquitin specific peptidase 26	gene	DOID:0070597	X-linked spermatogenic failure 6		ISO	RGD:1354275	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE, X-LINKED, 6 | ClinVar Annotator: match by term: USP26-related condition	PMID:25741868|PMID:28492532
1563443	Usp26	ubiquitin specific peptidase 26	gene	DOID:14228	oligospermia		ISO	RGD:1354275	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868|PMID:30561524|PMID:31551464
1563443	Usp26	ubiquitin specific peptidase 26	gene	DOID:9001513	Asthenozoospermia		ISO	RGD:1354275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthenoteratozoospermia	
1563444	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563444	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563444	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:0060058	lymphoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1563444	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563444	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563444	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:3275	thymoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563444	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563444	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563444	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605889	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563444	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563444	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563444	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563444	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563444	Fhad1	forkhead associated phosphopeptide binding domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563448	Ccdc73	coiled-coil domain containing 73	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563448	Ccdc73	coiled-coil domain containing 73	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563448	Ccdc73	coiled-coil domain containing 73	gene	DOID:1115	sarcoma		ISO	RGD:1601781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563448	Ccdc73	coiled-coil domain containing 73	gene	DOID:3275	thymoma		ISO	RGD:1601781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563448	Ccdc73	coiled-coil domain containing 73	gene	DOID:5041	esophageal cancer		ISO	RGD:1601781	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563448	Ccdc73	coiled-coil domain containing 73	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563448	Ccdc73	coiled-coil domain containing 73	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563448	Ccdc73	coiled-coil domain containing 73	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563452	Galnt17	polypeptide N-acetylgalactosaminyltransferase 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563452	Galnt17	polypeptide N-acetylgalactosaminyltransferase 17	gene	DOID:1909	melanoma		ISO	RGD:1342451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563452	Galnt17	polypeptide N-acetylgalactosaminyltransferase 17	gene	DOID:3275	thymoma		ISO	RGD:1342451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563452	Galnt17	polypeptide N-acetylgalactosaminyltransferase 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1342451	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563452	Galnt17	polypeptide N-acetylgalactosaminyltransferase 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563452	Galnt17	polypeptide N-acetylgalactosaminyltransferase 17	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1342451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563452	Galnt17	polypeptide N-acetylgalactosaminyltransferase 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563454	Acod1	aconitate decarboxylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2292071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563454	Acod1	aconitate decarboxylase 1	gene	DOID:1107	esophageal carcinoma		ISO	RGD:2292071	D	RGD:596992333|PMID:37793345	20250113	RGD		mRNA:increased expression:esophagus (human)	
1563454	Acod1	aconitate decarboxylase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:2292071	D	RGD:596992333|PMID:37793345	20250113	RGD		mRNA:increased expression:cranioceervical (human)	
1563454	Acod1	aconitate decarboxylase 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:2292071	D	RGD:596992333|PMID:37793345	20250113	RGD		mRNA:increased expression:macrophage (human)	
1563454	Acod1	aconitate decarboxylase 1	gene	DOID:9008344	Invasive Breast Carcinoma		ISO	RGD:2292071	D	RGD:596992333|PMID:37793345	20250113	RGD		mRNA, protein:increased expression:breast cancer tumor (human)	
1563460	C5h9orf43	similar to human chromosome 9 open reading frame 43	gene	DOID:10534	stomach cancer		ISO	RGD:1345519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563460	C5h9orf43	similar to human chromosome 9 open reading frame 43	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563460	C5h9orf43	similar to human chromosome 9 open reading frame 43	gene	DOID:3070	high grade glioma		ISO	RGD:1345519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563460	C5h9orf43	similar to human chromosome 9 open reading frame 43	gene	DOID:4362	cervical cancer		ISO	RGD:1345519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563460	C5h9orf43	similar to human chromosome 9 open reading frame 43	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563460	C5h9orf43	similar to human chromosome 9 open reading frame 43	gene	DOID:5041	esophageal cancer		ISO	RGD:1345519	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563460	C5h9orf43	similar to human chromosome 9 open reading frame 43	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563460	C5h9orf43	similar to human chromosome 9 open reading frame 43	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563460	C5h9orf43	similar to human chromosome 9 open reading frame 43	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563460	C5h9orf43	similar to human chromosome 9 open reading frame 43	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1563460	C5h9orf43	similar to human chromosome 9 open reading frame 43	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563465	Ntng1	netrin G1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563465	Ntng1	netrin G1	gene	DOID:1115	sarcoma		ISO	RGD:1350531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563465	Ntng1	netrin G1	gene	DOID:1324	lung cancer		ISO	RGD:1350531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563465	Ntng1	netrin G1	gene	DOID:1909	melanoma		ISO	RGD:1350531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563465	Ntng1	netrin G1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563465	Ntng1	netrin G1	gene	DOID:3070	high grade glioma		ISO	RGD:1350531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563465	Ntng1	netrin G1	gene	DOID:3312	bipolar disorder		ISO	RGD:1350531	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17507910
1563465	Ntng1	netrin G1	gene	DOID:5419	schizophrenia		ISO	RGD:1350531	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17507910
1563465	Ntng1	netrin G1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1350531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1563465	Ntng1	netrin G1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1350531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1563465	Ntng1	netrin G1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1350531	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
1563465	Ntng1	netrin G1	gene	DOID:936	brain disease		ISO	RGD:1350531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
1563467	Cdcp2	CUB domain containing protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563467	Cdcp2	CUB domain containing protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563467	Cdcp2	CUB domain containing protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563470	Firrm	FIGNL1 interacting regulator of recombination and mitosis	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563470	Firrm	FIGNL1 interacting regulator of recombination and mitosis	gene	DOID:10534	stomach cancer		ISO	RGD:1603990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563470	Firrm	FIGNL1 interacting regulator of recombination and mitosis	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563470	Firrm	FIGNL1 interacting regulator of recombination and mitosis	gene	DOID:1115	sarcoma		ISO	RGD:1603990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563470	Firrm	FIGNL1 interacting regulator of recombination and mitosis	gene	DOID:1909	melanoma		ISO	RGD:1603990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563470	Firrm	FIGNL1 interacting regulator of recombination and mitosis	gene	DOID:3275	thymoma		ISO	RGD:1603990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563470	Firrm	FIGNL1 interacting regulator of recombination and mitosis	gene	DOID:5041	esophageal cancer		ISO	RGD:1603990	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563470	Firrm	FIGNL1 interacting regulator of recombination and mitosis	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563470	Firrm	FIGNL1 interacting regulator of recombination and mitosis	gene	DOID:6039	uveal melanoma		ISO	RGD:1603990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1563470	Firrm	FIGNL1 interacting regulator of recombination and mitosis	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563470	Firrm	FIGNL1 interacting regulator of recombination and mitosis	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563470	Firrm	FIGNL1 interacting regulator of recombination and mitosis	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563470	Firrm	FIGNL1 interacting regulator of recombination and mitosis	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603990	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563470	Firrm	FIGNL1 interacting regulator of recombination and mitosis	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563482	Mtrfr	mitochondrial translation release factor in rescue	gene	DOID:0110807	hereditary spastic paraplegia 55		ISO	RGD:1605601	D	RGD:7240710	20161130	OMIM			
1563482	Mtrfr	mitochondrial translation release factor in rescue	gene	DOID:0110807	hereditary spastic paraplegia 55		ISO	RGD:1605601	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 55 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 55, autosomal recessive	PMID:20598281|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25741868|PMID:26380172|PMID:28251916|PMID:28492532
1563482	Mtrfr	mitochondrial translation release factor in rescue	gene	DOID:0111487	combined oxidative phosphorylation deficiency 7		ISO	RGD:1605601	D	RGD:7240710	20161130	OMIM			
1563482	Mtrfr	mitochondrial translation release factor in rescue	gene	DOID:0111487	combined oxidative phosphorylation deficiency 7		ISO	RGD:1605601	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 | ClinVar Annotator: match by term: Combined oxidative phosphorylation defect type 7	PMID:20598281|PMID:23188110|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25741868|PMID:26380172|PMID:26539891|PMID:28091420|PMID:28251916|PMID:28492532|PMID:30369941|PMID:31694722|PMID:31753091|PMID:32478789|PMID:32581362|PMID:34440436|PMID:37541188
1563482	Mtrfr	mitochondrial translation release factor in rescue	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1605601	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532
1563482	Mtrfr	mitochondrial translation release factor in rescue	gene	DOID:5723	optic atrophy		ISO	RGD:1605601	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1563482	Mtrfr	mitochondrial translation release factor in rescue	gene	DOID:607	paraplegia		ISO	RGD:1605601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:20598281|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25741868|PMID:26380172|PMID:28251916|PMID:28492532
1563482	Mtrfr	mitochondrial translation release factor in rescue	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:1605601	D	RGD:11554173	20161206	CTD		CTD Direct Evidence: marker/mechanism	PMID:20598281
1563482	Mtrfr	mitochondrial translation release factor in rescue	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605601	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1563485	Atrnl1	attractin like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563485	Atrnl1	attractin like 1	gene	DOID:1324	lung cancer		ISO	RGD:1607060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563485	Atrnl1	attractin like 1	gene	DOID:1909	melanoma		ISO	RGD:1607060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563485	Atrnl1	attractin like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563485	Atrnl1	attractin like 1	gene	DOID:3070	high grade glioma		ISO	RGD:1607060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563485	Atrnl1	attractin like 1	gene	DOID:3275	thymoma		ISO	RGD:1607060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563485	Atrnl1	attractin like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1607060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563485	Atrnl1	attractin like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563485	Atrnl1	attractin like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1607060	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1563485	Atrnl1	attractin like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:1605333	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349890
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605333	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563491	Cped1	cadherin-like and PC-esterase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563497	Sergef	secretion regulating guanine nucleotide exchange factor	gene	DOID:10534	stomach cancer		ISO	RGD:1603222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563497	Sergef	secretion regulating guanine nucleotide exchange factor	gene	DOID:1936	atherosclerosis		ISO	RGD:1603222	D	RGD:155882464|PMID:33381146	20230123	RGD		associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human)	
1563497	Sergef	secretion regulating guanine nucleotide exchange factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563497	Sergef	secretion regulating guanine nucleotide exchange factor	gene	DOID:3275	thymoma		ISO	RGD:1603222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563497	Sergef	secretion regulating guanine nucleotide exchange factor	gene	DOID:4362	cervical cancer		ISO	RGD:1603222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563497	Sergef	secretion regulating guanine nucleotide exchange factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563497	Sergef	secretion regulating guanine nucleotide exchange factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563497	Sergef	secretion regulating guanine nucleotide exchange factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563498	Lyrm1	LYR motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563498	Lyrm1	LYR motif containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563498	Lyrm1	LYR motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563498	Lyrm1	LYR motif containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563498	Lyrm1	LYR motif containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563498	Lyrm1	LYR motif containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563504	Plcxd2	phosphatidylinositol-specific phospholipase C, X domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563504	Plcxd2	phosphatidylinositol-specific phospholipase C, X domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563504	Plcxd2	phosphatidylinositol-specific phospholipase C, X domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563506	Whamm	WASP homolog associated with actin, golgi membranes and microtubules	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563506	Whamm	WASP homolog associated with actin, golgi membranes and microtubules	gene	DOID:1062	Fanconi syndrome		ISS	RGD:1623566	D	RGD:13592920	20240704	MouseDO			
1563506	Whamm	WASP homolog associated with actin, golgi membranes and microtubules	gene	DOID:1115	sarcoma		ISO	RGD:1606472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563506	Whamm	WASP homolog associated with actin, golgi membranes and microtubules	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1606472	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1563506	Whamm	WASP homolog associated with actin, golgi membranes and microtubules	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563506	Whamm	WASP homolog associated with actin, golgi membranes and microtubules	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1602127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:1115	sarcoma		ISO	RGD:1602127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:1324	lung cancer		ISO	RGD:1602127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:1909	melanoma		ISO	RGD:1602127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1602127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1602127	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563508	Smg1	SMG1, nonsense mediated mRNA decay associated PI3K related kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563510	Nol4l	nucleolar protein 4-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563510	Nol4l	nucleolar protein 4-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563510	Nol4l	nucleolar protein 4-like	gene	DOID:3275	thymoma		ISO	RGD:1348785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563510	Nol4l	nucleolar protein 4-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563510	Nol4l	nucleolar protein 4-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:0050749	peripheral T-cell lymphoma		ISS	RGD:1557447	D	RGD:13592920	20180518	MouseDO			
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604740	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:1909	melanoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:9004766	Familial Hemophagocytic Lymphohistiocytosis 6		ISO	RGD:1604740	D	RGD:7240710	20200930	OMIM			
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:9004766	Familial Hemophagocytic Lymphohistiocytosis 6		ISO	RGD:1604740	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6	PMID:25741868
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:9074	systemic lupus erythematosus		ISS	RGD:1557447	D	RGD:13592920	20180518	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
1563512	Rc3h1	ring finger and CCCH-type domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563513	Slc10a3	solute carrier family 10, member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563513	Slc10a3	solute carrier family 10, member 3	gene	DOID:1324	lung cancer		ISO	RGD:1354490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563513	Slc10a3	solute carrier family 10, member 3	gene	DOID:1909	melanoma		ISO	RGD:1354490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563513	Slc10a3	solute carrier family 10, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563513	Slc10a3	solute carrier family 10, member 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1354490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1563513	Slc10a3	solute carrier family 10, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563513	Slc10a3	solute carrier family 10, member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563514	Spout1	SPOUT domain containing methyltransferase 1	gene	DOID:9009337	NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, SEIZURES, AND BRAIN ABNORMALITIES		ISO	RGD:1343592	D	RGD:7240710	20250521	OMIM			
1563517	Clec1b	C-type lectin domain family 1, member B	gene	DOID:0080600	COVID-19		ISO	RGD:1346944	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1563517	Clec1b	C-type lectin domain family 1, member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346944	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351683	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563520	Uggt2	UDP-glucose glycoprotein glucosyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563522	Lax1	lymphocyte transmembrane adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563522	Lax1	lymphocyte transmembrane adaptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563522	Lax1	lymphocyte transmembrane adaptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563522	Lax1	lymphocyte transmembrane adaptor 1	gene	DOID:1909	melanoma		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563522	Lax1	lymphocyte transmembrane adaptor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1563522	Lax1	lymphocyte transmembrane adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563522	Lax1	lymphocyte transmembrane adaptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563522	Lax1	lymphocyte transmembrane adaptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563523	Dkkl1	dickkopf like acrosomal protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1350645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563523	Dkkl1	dickkopf like acrosomal protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563523	Dkkl1	dickkopf like acrosomal protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563523	Dkkl1	dickkopf like acrosomal protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563529	Nlrp4	NLR family, pyrin domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1323147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563529	Nlrp4	NLR family, pyrin domain containing 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563529	Nlrp4	NLR family, pyrin domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563529	Nlrp4	NLR family, pyrin domain containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323147	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563529	Nlrp4	NLR family, pyrin domain containing 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1323147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:1909	melanoma		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:3275	thymoma		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:9003605	Glaucoma 1, Open Angle, B		ISO	RGD:1606223	D	RGD:8554872	20180807	ClinVar		ClinVar Annotator: match by term: Glaucoma 1, open angle, B	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563531	Fastkd1	FAST kinase domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563533	Casz1	castor zinc finger 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1563533	Casz1	castor zinc finger 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
1563533	Casz1	castor zinc finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563533	Casz1	castor zinc finger 1	gene	DOID:0051061	stroke		ISO	RGD:1606535	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
1563533	Casz1	castor zinc finger 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606535	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1563533	Casz1	castor zinc finger 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1606535	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1563533	Casz1	castor zinc finger 1	gene	DOID:0060410	chromosome 1p36 deletion syndrome		ISS	RGD:1557539	D	RGD:13592920	20180518	MouseDO		OMIM:607872	
1563533	Casz1	castor zinc finger 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563533	Casz1	castor zinc finger 1	gene	DOID:1115	sarcoma		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563533	Casz1	castor zinc finger 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606535	D	RGD:8554872	20210810	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
1563533	Casz1	castor zinc finger 1	gene	DOID:1324	lung cancer		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563533	Casz1	castor zinc finger 1	gene	DOID:1909	melanoma		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563533	Casz1	castor zinc finger 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1563533	Casz1	castor zinc finger 1	gene	DOID:3275	thymoma		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1563533	Casz1	castor zinc finger 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563533	Casz1	castor zinc finger 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1563533	Casz1	castor zinc finger 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606535	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563533	Casz1	castor zinc finger 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563533	Casz1	castor zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563533	Casz1	castor zinc finger 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1563533	Casz1	castor zinc finger 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1563533	Casz1	castor zinc finger 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563533	Casz1	castor zinc finger 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606535	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
1563533	Casz1	castor zinc finger 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563533	Casz1	castor zinc finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563533	Casz1	castor zinc finger 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347770	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:0060058	lymphoma		ISO	RGD:1347770	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:10534	stomach cancer		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:1115	sarcoma		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:1324	lung cancer		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:1909	melanoma		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:3275	thymoma		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:4362	cervical cancer		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563538	Clasrp	CLK4-associating serine/arginine rich protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563539	Ceacam18	CEA cell adhesion molecule 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1642767	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563547	Smim22	small integral membrane protein 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:7247217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:10534	stomach cancer		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:33867527
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:1115	sarcoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:1324	lung cancer		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:3275	thymoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:4362	cervical cancer		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563548	Ero1b	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563550	Wdr72	WD repeat domain 72	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563550	Wdr72	WD repeat domain 72	gene	DOID:0110061	amelogenesis imperfecta hypomaturation type 2A3		ISO	RGD:1602418	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563550	Wdr72	WD repeat domain 72	gene	DOID:0110061	amelogenesis imperfecta hypomaturation type 2A3		ISO	RGD:1602418	D	RGD:7240710	20130221	OMIM			
1563550	Wdr72	WD repeat domain 72	gene	DOID:0110061	amelogenesis imperfecta hypomaturation type 2A3		ISO	RGD:1602418	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3 | ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IIA3 | ClinVar Annotator: match by term: WDR72-related disorder	PMID:19853237|PMID:24033266|PMID:25741868|PMID:33033857|PMID:40741335
1563550	Wdr72	WD repeat domain 72	gene	DOID:0110061	amelogenesis imperfecta hypomaturation type 2A3		ISS	RGD:1622619	D	RGD:13592920	20230718	MouseDO		OMIM:613211	
1563550	Wdr72	WD repeat domain 72	gene	DOID:10534	stomach cancer		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563550	Wdr72	WD repeat domain 72	gene	DOID:1115	sarcoma		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563550	Wdr72	WD repeat domain 72	gene	DOID:1324	lung cancer		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563550	Wdr72	WD repeat domain 72	gene	DOID:1909	melanoma		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563550	Wdr72	WD repeat domain 72	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1602418	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: amelogenesis imperfecta	PMID:24033266|PMID:25741868|PMID:36836560
1563550	Wdr72	WD repeat domain 72	gene	DOID:3275	thymoma		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1563550	Wdr72	WD repeat domain 72	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563550	Wdr72	WD repeat domain 72	gene	DOID:4362	cervical cancer		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563550	Wdr72	WD repeat domain 72	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563550	Wdr72	WD repeat domain 72	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1563550	Wdr72	WD repeat domain 72	gene	DOID:5041	esophageal cancer		ISO	RGD:1602418	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563550	Wdr72	WD repeat domain 72	gene	DOID:540	strabismus		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1563550	Wdr72	WD repeat domain 72	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563550	Wdr72	WD repeat domain 72	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563550	Wdr72	WD repeat domain 72	gene	DOID:630	genetic disease		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:40741335
1563550	Wdr72	WD repeat domain 72	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:19853237|PMID:25741868|PMID:31959358
1563550	Wdr72	WD repeat domain 72	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563550	Wdr72	WD repeat domain 72	gene	DOID:9007406	Distal Renal Tubular Acidosis		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal renal tubular acidosis	PMID:25741868|PMID:30028003|PMID:31959358|PMID:39150521
1563550	Wdr72	WD repeat domain 72	gene	DOID:9007740	Familial Hypophosphatemia		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperphosphaturia	PMID:19853237|PMID:25741868
1563550	Wdr72	WD repeat domain 72	gene	DOID:9007818	Distal Renal Tubular Acidosis 4 with Hemolytic Anemia		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia	PMID:30028003
1563550	Wdr72	WD repeat domain 72	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563550	Wdr72	WD repeat domain 72	gene	DOID:9256	colorectal cancer		ISO	RGD:126736038	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:28492532
1563555	Garin3	golgi associated RAB2 interactor family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563556	Cep126	centrosomal protein 126	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563556	Cep126	centrosomal protein 126	gene	DOID:0080600	COVID-19		ISO	RGD:1606251	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1563556	Cep126	centrosomal protein 126	gene	DOID:10534	stomach cancer		ISO	RGD:1606251	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563556	Cep126	centrosomal protein 126	gene	DOID:4362	cervical cancer		ISO	RGD:1606251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563556	Cep126	centrosomal protein 126	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:0061069	immunodeficiency 99		ISO	RGD:1346196	D	RGD:7240710	20220518	OMIM			
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:0061069	immunodeficiency 99		ISO	RGD:1346196	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:1115	sarcoma		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:11981	morbid obesity	no_association	ISO	RGD:1346196	D	RGD:9850253|PMID:19228371	20150401	RGD		DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human)	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:11981	morbid obesity	susceptibility	ISO	RGD:1346196	D	RGD:9850251|PMID:19245693	20150401	RGD		DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human)	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:1324	lung cancer		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:1909	melanoma		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563558	Ctnnbl1	catenin, beta like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1346196	D	RGD:9850254|PMID:21537400	20150401	RGD		DNA:snps:introns: c.326+4380A>G, c.1213+1838T>C, c.1393-7258G>A (rs2344481, rs2281148, rs2235460) (human)	
1563566	Ubqln2	ubiquilin 2	gene	DOID:0060206	amyotrophic lateral sclerosis type 15		ISO	RGD:1350173	D	RGD:7240710	20140903	OMIM			
1563566	Ubqln2	ubiquilin 2	gene	DOID:0060206	amyotrophic lateral sclerosis type 15		ISO	RGD:1350173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15 | ClinVar Annotator: match by term: UBQLN2-related disorder	PMID:19377476|PMID:21857683|PMID:22560112|PMID:22892309|PMID:23138764|PMID:23312802|PMID:23944734|PMID:24215460|PMID:24771548|PMID:25333069|PMID:25398946|PMID:25616961|PMID:25741868|PMID:26075709|PMID:26152284|PMID:26467025|PMID:26601740|PMID:27477512|PMID:27834214|PMID:28492532|PMID:28716533|PMID:30333186|PMID:30348461|PMID:34273246|PMID:34544842|PMID:35896380
1563566	Ubqln2	ubiquilin 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1350173	D	RGD:5147832|PMID:21857683	20110823	RGD			
1563566	Ubqln2	ubiquilin 2	gene	DOID:8725	vascular dementia		ISO	RGD:1350173	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1349471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:0112128	X-linked severe congenital neutropenia		ISO	RGD:1349471	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17724125
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:0112128	X-linked severe congenital neutropenia		ISO	RGD:1349471	D	RGD:7240710	20130425	OMIM			
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:0112128	X-linked severe congenital neutropenia		ISO	RGD:1349471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, X-LINKED | ClinVar Annotator: match by term: X-linked severe congenital neutropenia	PMID:10202051|PMID:10737997|PMID:11167787|PMID:11298372|PMID:11442475|PMID:11745360|PMID:11793485|PMID:12969986|PMID:15284122|PMID:15497008|PMID:16199547|PMID:16804117|PMID:17213309|PMID:17250667|PMID:17400488|PMID:17576681|PMID:19308710|PMID:19817875|PMID:20173115|PMID:20513746|PMID:20546529|PMID:20959042|PMID:21185603|PMID:21710275|PMID:21711396|PMID:22426750|PMID:22523910|PMID:22679904|PMID:23033889|PMID:23160469|PMID:23527602|PMID:24402308|PMID:25091438|PMID:25332606|PMID:25476427|PMID:25741868|PMID:25792466|PMID:25862925|PMID:25931402|PMID:26368308|PMID:26409660|PMID:27566838|PMID:28492532|PMID:28623282|PMID:28641574|PMID:29078804|PMID:31064749|PMID:35482138|PMID:35729272|PMID:35874699|PMID:36519321|PMID:39052144|PMID:7579347|PMID:7753869|PMID:7795648|PMID:8528198|PMID:8682510|PMID:8743175|PMID:8757563|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9536098|PMID:9713366
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:12155	lymphocytic choriomeningitis		ISO	RGD:1558289	D	RGD:38676258|PMID:23141740	20200916	RGD			
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:1247	blood coagulation disease		ISO	RGD:1349471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bleeding and platelet disorders	PMID:11793485|PMID:12969986|PMID:15284122|PMID:19817875|PMID:20173115|PMID:21185603|PMID:25741868|PMID:26261240|PMID:27264129|PMID:28492532|PMID:28931895|PMID:33936041|PMID:7579347|PMID:8528198|PMID:8528199|PMID:8595430|PMID:9326235
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:1588	thrombocytopenia		ISO	RGD:1349471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:11167787|PMID:12969986|PMID:15284122|PMID:19817875|PMID:20546529|PMID:21185603|PMID:23160469|PMID:25741868|PMID:27885891|PMID:28492532|PMID:28641574|PMID:31064749|PMID:7753869|PMID:8757563|PMID:9326235
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:1909	melanoma		ISO	RGD:1349471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1349471	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:28492532|PMID:30349881|PMID:32935436
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:2986	IgA glomerulonephritis		ISS	RGD:1558289	D	RGD:13592920	20180518	MouseDO		OMIM:161950 | OMIM:616818	
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:3298	vaccinia	severity	ISO	RGD:1558289	D	RGD:38599240|PMID:15681416	20200916	RGD			
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:3326	purpura		ISO	RGD:1349471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Purpura	PMID:11167787|PMID:12969986|PMID:15284122|PMID:19817875|PMID:20546529|PMID:21185603|PMID:23160469|PMID:25741868|PMID:28492532|PMID:28641574|PMID:31064749|PMID:7753869|PMID:8757563|PMID:9326235
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:630	genetic disease		ISO	RGD:1349471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:9000557	Thrombocytopenia 1		ISO	RGD:1349471	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:9000557	Thrombocytopenia 1		ISO	RGD:1349471	D	RGD:7240710	20131030	OMIM			
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:9000557	Thrombocytopenia 1		ISO	RGD:1349471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: THROMBOCYTOPENIA 1 | ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 | ClinVar Annotator: match by term: Thrombocytopenia 1 | ClinVar Annotator: match by term: Thrombocytopenia, X-linked	PMID:10202051|PMID:10447259|PMID:10449748|PMID:10575547|PMID:10691337|PMID:10737997|PMID:10790228|PMID:11167787|PMID:11242115|PMID:11298372|PMID:11442475|PMID:11745360|PMID:11793485|PMID:11877312|PMID:12591280|PMID:12727931|PMID:12969986|PMID:14612666|PMID:14612970|PMID:15284122|PMID:15389128|PMID:15469902|PMID:15497008|PMID:16199547|PMID:16562789|PMID:16787874|PMID:17213309|PMID:17250667|PMID:17400488|PMID:17576681|PMID:19308710|PMID:19817875|PMID:20173115|PMID:20301357|PMID:20513746|PMID:20546529|PMID:20959042|PMID:21185603|PMID:21710275|PMID:21711396|PMID:22426750|PMID:22523910|PMID:22679904|PMID:23033889|PMID:23160469|PMID:23264413|PMID:23689198|PMID:23807894|PMID:24210885|PMID:25091438|PMID:25332606|PMID:25476427|PMID:25741868|PMID:25792466|PMID:25862925|PMID:25931402|PMID:26277674|PMID:26368308|PMID:26409660|PMID:26502776|PMID:27566838|PMID:28492532|PMID:28600779|PMID:28623282|PMID:28641574|PMID:28931895|PMID:29896746|PMID:30549999|PMID:30697212|PMID:30894704|PMID:30981783|PMID:31064749|PMID:31104664|PMID:31354712|PMID:32097281|PMID:32812413|PMID:34098853|PMID:34384840|PMID:35482138|PMID:35729272|PMID:35874699|PMID:36519321|PMID:39052144|PMID:7579347|PMID:7753869|PMID:7795648|PMID:8528198|PMID:8528199|PMID:8595430|PMID:8682510|PMID:8743175|PMID:8757562|PMID:8757563|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9536098|PMID:9683546|PMID:9713366
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:9005525	X-Linked Thrombocytopenia, Intermittent		ISO	RGD:1349471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, INTERMITTENT	
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:9006262	Cytomegalovirus Infections	severity	ISO	RGD:1558289	D	RGD:38676256|PMID:30981413	20200916	RGD			
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:9009028	Ecchymosis		ISO	RGD:1349471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ecchymosis	PMID:11167787|PMID:12969986|PMID:15284122|PMID:19817875|PMID:20546529|PMID:21185603|PMID:23160469|PMID:25741868|PMID:28492532|PMID:28641574|PMID:31064749|PMID:7753869|PMID:8757563|PMID:9326235
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:9169	Wiskott-Aldrich syndrome		ISO	RGD:1349471	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:11598004
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:9169	Wiskott-Aldrich syndrome		ISO	RGD:1349471	D	RGD:1599803|PMID:8069912	20070215	RGD			
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:9169	Wiskott-Aldrich syndrome		ISO	RGD:1349471	D	RGD:7240710	20130425	OMIM			
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:9169	Wiskott-Aldrich syndrome		ISO	RGD:1349471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aldrich syndrome | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME, ATTENUATED | ClinVar Annotator: match by term: Wiskott Aldrich Syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich Syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome	PMID:10073904|PMID:10202051|PMID:10447259|PMID:10575547|PMID:10653325|PMID:10691337|PMID:10737997|PMID:11167787|PMID:11298372|PMID:11442475|PMID:11745360|PMID:11793485|PMID:12437929|PMID:12727931|PMID:12969986|PMID:14504083|PMID:14612666|PMID:15284122|PMID:15497008|PMID:16002738|PMID:16091449|PMID:16199547|PMID:17051251|PMID:17213309|PMID:17250667|PMID:17390083|PMID:17400488|PMID:17576681|PMID:17703096|PMID:18162713|PMID:19308710|PMID:19817875|PMID:20173115|PMID:20232122|PMID:20546529|PMID:20959042|PMID:21185603|PMID:21710275|PMID:21711396|PMID:21771083|PMID:22426750|PMID:22523910|PMID:22679904|PMID:23033889|PMID:23160469|PMID:23527602|PMID:23689198|PMID:24210885|PMID:25091438|PMID:25332606|PMID:25476427|PMID:25741868|PMID:25792466|PMID:25862925|PMID:25931402|PMID:26368308|PMID:26409660|PMID:27566838|PMID:27885891|PMID:27993330|PMID:28492532|PMID:28623282|PMID:28641574|PMID:29348920|PMID:30981783|PMID:31064749|PMID:31354712|PMID:32812413|PMID:33936041|PMID:35482138|PMID:35729272|PMID:35874699|PMID:36519321|PMID:39052144|PMID:7579347|PMID:7753869|PMID:7795648|PMID:8528198|PMID:8682510|PMID:8743175|PMID:8757563|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9536098|PMID:9713366
1563567	Was	WASP actin nucleation promoting factor	gene	DOID:9169	Wiskott-Aldrich syndrome		ISS	RGD:1558289	D	RGD:13592920	20230718	MouseDO		OMIM:301000	
1563568	Stk26	serine/threonine kinase 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563568	Stk26	serine/threonine kinase 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563568	Stk26	serine/threonine kinase 26	gene	DOID:1324	lung cancer		ISO	RGD:1604356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563568	Stk26	serine/threonine kinase 26	gene	DOID:1909	melanoma		ISO	RGD:1604356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563568	Stk26	serine/threonine kinase 26	gene	DOID:3275	thymoma		ISO	RGD:1604356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563568	Stk26	serine/threonine kinase 26	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563568	Stk26	serine/threonine kinase 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563572	Tstd3	thiosulfate sulfurtransferase like domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:6769372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563572	Tstd3	thiosulfate sulfurtransferase like domain containing 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1557685	D	RGD:11554173	20260707	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1563572	Tstd3	thiosulfate sulfurtransferase like domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:6769372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563574	Igflr1	IGF-like family receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563574	Igflr1	IGF-like family receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1605956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563574	Igflr1	IGF-like family receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1605956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563574	Igflr1	IGF-like family receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563574	Igflr1	IGF-like family receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563576	Kbtbd11	kelch repeat and BTB domain containing 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563576	Kbtbd11	kelch repeat and BTB domain containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563576	Kbtbd11	kelch repeat and BTB domain containing 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604839	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563576	Kbtbd11	kelch repeat and BTB domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563576	Kbtbd11	kelch repeat and BTB domain containing 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604839	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1563577	Cnfn	cornifelin	gene	DOID:1324	lung cancer		ISO	RGD:1350274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1563577	Cnfn	cornifelin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563577	Cnfn	cornifelin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:0060249	scoliosis		ISO	RGD:1352693	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:32581362
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1352693	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1352693	D	RGD:7240710	20130221	OMIM			
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1352693	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type	PMID:15319456|PMID:15358621|PMID:16019685|PMID:16199547|PMID:17576681|PMID:18342287|PMID:18414213|PMID:19471312|PMID:19619532|PMID:20395263|PMID:21465648|PMID:24123876|PMID:24123890|PMID:25044251|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27256868|PMID:28492532|PMID:29588952|PMID:32581362|PMID:32776513|PMID:32860008|PMID:9536098
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1352693	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE	PMID:15319456|PMID:15358621|PMID:16019685|PMID:16199547|PMID:17576681|PMID:18342287|PMID:18414213|PMID:19471312|PMID:19619532|PMID:20395263|PMID:21465648|PMID:24123876|PMID:24123890|PMID:25044251|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27256868|PMID:27854218|PMID:28492532|PMID:29588952|PMID:32581362|PMID:32776513|PMID:32860008|PMID:9536098
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1352693	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type	PMID:15319456|PMID:15358621|PMID:16019685|PMID:16199547|PMID:17576681|PMID:18342287|PMID:18414213|PMID:19471312|PMID:19619532|PMID:20395263|PMID:21465648|PMID:24123876|PMID:24123890|PMID:25044251|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27256868|PMID:28492532|PMID:29275387|PMID:29588952|PMID:32581362|PMID:32776513|PMID:32860008|PMID:34797406|PMID:35032046|PMID:35334527|PMID:9536098
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1352693	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Angelman syndrome-like | ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: SLC9A6-related condition	PMID:10528855|PMID:15319456|PMID:15358621|PMID:16019685|PMID:16199547|PMID:17576681|PMID:18342287|PMID:18414213|PMID:19377476|PMID:19471312|PMID:19619532|PMID:20395263|PMID:20479760|PMID:21465648|PMID:22931061|PMID:24123876|PMID:24123890|PMID:24389049|PMID:25044251|PMID:25167861|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27256868|PMID:28492532|PMID:29275387|PMID:29588952|PMID:30296617|PMID:32581362|PMID:32776513|PMID:32860008|PMID:34797406|PMID:35032046|PMID:35334527|PMID:39810750|PMID:9536098
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1352693	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Angelman syndrome-like | ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: SLC9A6-related condition	PMID:10528855|PMID:16199547|PMID:17576681|PMID:18342287|PMID:18414213|PMID:19377476|PMID:19619532|PMID:20395263|PMID:20479760|PMID:22931061|PMID:24123876|PMID:24389049|PMID:25044251|PMID:25167861|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27256868|PMID:28492532|PMID:29275387|PMID:29588952|PMID:30296617|PMID:32581362|PMID:32776513|PMID:32860008|PMID:34797406|PMID:35032046|PMID:35334527|PMID:39810750|PMID:9536098
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1352693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Angelman syndrome-like | ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: Mental retardation, X-linked syndromic, Christianson type | ClinVar Annotator: match by term: SLC9A6-related condition | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type	PMID:10528855|PMID:16199547|PMID:17576681|PMID:18342287|PMID:18414213|PMID:25044251|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27142213|PMID:28492532|PMID:29275387|PMID:29588952|PMID:30296617|PMID:31130284|PMID:32581362|PMID:32776513|PMID:35032046|PMID:35334527|PMID:39810750|PMID:9536098
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:0060825	Christianson syndrome		ISS	RGD:1558403	D	RGD:13592920	20230718	MouseDO		OMIM:300243	
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A		ISO	RGD:1352693	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A	PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:1059	intellectual disability		ISO	RGD:1352693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:1205	allergic disease		ISO	RGD:1352693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:25741868
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:1826	epilepsy		ISO	RGD:1352693	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:32581362
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:4362	cervical cancer		ISO	RGD:1352693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:5041	esophageal cancer		ISO	RGD:1352693	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:535	sleep disorder		ISO	RGD:1352693	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:32581362
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:540	strabismus		ISO	RGD:1352693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1352693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:630	genetic disease		ISO	RGD:1352693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1352693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352693	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:18342287|PMID:25741868|PMID:28492532|PMID:35032046|PMID:35334527
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:32581362
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:9009334	neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment		ISO	RGD:1352693	D	RGD:7240710	20250430	OMIM			
1563582	Slc9a6	solute carrier family 9 member A6	gene	DOID:9009334	neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment		ISO	RGD:1352693	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEGENERATIVE DISORDER, X-LINKED, FEMALE-RESTRICTED, WITH PARKINSONISM AND COGNITIVE IMPAIRMENT	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:0060058	lymphoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:0111025	cone-rod dystrophy 19		ISO	RGD:1350630	D	RGD:7240710	20170301	OMIM			
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:0111025	cone-rod dystrophy 19		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 19 | ClinVar Annotator: match by term: Cone-rod dystrophy 19 | ClinVar Annotator: match by term: TTLL5-related condition	PMID:24791901|PMID:25741868|PMID:27162334|PMID:28173158|PMID:28492532
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:10534	stomach cancer		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1350630	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:24791901|PMID:25741868|PMID:27162334|PMID:28492532|PMID:32531858
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:1115	sarcoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:1909	melanoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:3070	high grade glioma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:3275	thymoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:4362	cervical cancer		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:5723	optic atrophy		ISO	RGD:1350630	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:630	genetic disease		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1350630	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16199547|PMID:24791901|PMID:27162334|PMID:28492532
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:8501	fundus dystrophy		ISO	RGD:1350630	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:24791901|PMID:25741868|PMID:27162334|PMID:28173158|PMID:28492532|PMID:31345219|PMID:31964843|PMID:32531858|PMID:34203883|PMID:35119454|PMID:35365235
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563583	Ttll5	tubulin tyrosine ligase like 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563593	Cdca4	cell division cycle associated 4	gene	DOID:1324	lung cancer		ISO	RGD:1348557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563593	Cdca4	cell division cycle associated 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:0060249	scoliosis		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24566669|PMID:25741868|PMID:28492532|PMID:36786328
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1347467	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:0081097	Rafiq syndrome		ISO	RGD:1347467	D	RGD:7240710	20140911	OMIM			
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:0081097	Rafiq syndrome		ISO	RGD:1347467	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MAN1B1-CDG | ClinVar Annotator: match by term: MAN1B1-related condition | ClinVar Annotator: match by term: RAFIQ SYNDROME | ClinVar Annotator: match by term: Rafiq syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21763484|PMID:24348268|PMID:24566669|PMID:25741868|PMID:27148587|PMID:28492532|PMID:28940310|PMID:29908352|PMID:31785789|PMID:33057194|PMID:35982159|PMID:36786328|PMID:37010288|PMID:38037438|PMID:9536098
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1347467	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:24348268|PMID:24566669|PMID:25741868|PMID:28492532|PMID:36786328
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:1115	sarcoma		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:11193	syndactyly		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:28940310
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:1596	depressive disorder		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:24566669|PMID:28492532
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:1909	melanoma		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24566669|PMID:28492532
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:2841	asthma		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:24566669|PMID:28492532
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:3087	gingivitis		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:24566669|PMID:28492532
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:3275	thymoma		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:24566669|PMID:28492532
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:630	genetic disease		ISO	RGD:1347467	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21763484|PMID:25741868|PMID:28492532
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28940310
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:9001487	Facies		ISO	RGD:1347467	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: facial dysmorphism	PMID:21763484|PMID:21937992|PMID:24348268|PMID:24566669|PMID:25741868|PMID:26279649|PMID:27148587|PMID:28492532|PMID:29908352
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:24566669|PMID:25741868|PMID:28492532|PMID:36786328
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:24566669|PMID:28492532
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347467	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:24566669|PMID:25741868|PMID:28492532|PMID:28940310|PMID:36786328
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347467	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:24566669|PMID:25741868|PMID:28492532|PMID:36786328
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563595	Man1b1	mannosidase, alpha, class 1B, member 1	gene	DOID:9970	obesity		ISO	RGD:1347467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:24566669|PMID:25741868|PMID:28492532|PMID:36786328
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:10283	prostate cancer		ISO	RGD:1605408	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:10283	prostate cancer		ISO	RGD:1605408	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1605408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1605408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:3070	high grade glioma		ISO	RGD:1605408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1605408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1605408	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:9003882	Chromosomal Instability		ISO	RGD:1605408	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24976383
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12569123|PMID:17634360|PMID:25348401|PMID:25741868
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:9008692	Aneuploidy		ISO	RGD:1605408	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24976383
1563596	Ckap5	cytoskeleton associated protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563597	Dynlt2b	dynein light chain Tctex-type 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563597	Dynlt2b	dynein light chain Tctex-type 2B	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1604497	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1563597	Dynlt2b	dynein light chain Tctex-type 2B	gene	DOID:0111910	spermatogenic failure		ISS	RGD:1557776	D	RGD:13592920	20250220	MouseDO			
1563597	Dynlt2b	dynein light chain Tctex-type 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563597	Dynlt2b	dynein light chain Tctex-type 2B	gene	DOID:9001805	Short-Rib Thoracic Dysplasia 17 with or without Polydactyly		ISO	RGD:1604497	D	RGD:7240710	20190315	OMIM			
1563597	Dynlt2b	dynein light chain Tctex-type 2B	gene	DOID:9001805	Short-Rib Thoracic Dysplasia 17 with or without Polydactyly		ISO	RGD:1604497	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DYNLT2B-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly	PMID:17576681|PMID:25741868|PMID:26044572|PMID:28492532|PMID:9536098
1563597	Dynlt2b	dynein light chain Tctex-type 2B	gene	DOID:9003735	Splenic Hypoplasia		ISO	RGD:1604497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: asplenia	PMID:25741868
1563598	Cd160	CD160 molecule	gene	DOID:1324	lung cancer		ISO	RGD:1342532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563598	Cd160	CD160 molecule	gene	DOID:1909	melanoma		ISO	RGD:1342532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563598	Cd160	CD160 molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563598	Cd160	CD160 molecule	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563598	Cd160	CD160 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563598	Cd160	CD160 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563603	Rad51	RAD51 recombinase	gene	DOID:0050700	cardiomyopathy	treatment	IDA		D	RGD:7240549|PMID:22384017	20150302	RGD			
1563603	Rad51	RAD51 recombinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563603	Rad51	RAD51 recombinase	gene	DOID:0060260	ptosis		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:0070637	mirror movements 2		ISO	RGD:1316727	D	RGD:7240710	20260812	OMIM			
1563603	Rad51	RAD51 recombinase	gene	DOID:0070637	mirror movements 2		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MIRROR MOVEMENTS 2 | ClinVar Annotator: match by term: Mirror movements 2	PMID:21242494|PMID:24808016|PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:0111090	Fanconi anemia complementation group R		ISO	RGD:1316727	D	RGD:7240710	20260812	OMIM			
1563603	Rad51	RAD51 recombinase	gene	DOID:0111090	Fanconi anemia complementation group R		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group R	PMID:25741868|PMID:26253028|PMID:26681308
1563603	Rad51	RAD51 recombinase	gene	DOID:10488	imperforate anus		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:10534	stomach cancer		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563603	Rad51	RAD51 recombinase	gene	DOID:10763	hypertension	treatment	IDA		D	RGD:8693672|PMID:24239235	20150227	RGD			
1563603	Rad51	RAD51 recombinase	gene	DOID:10907	microcephaly		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:11830	myopia		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:12215	oligohydramnios		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:1612	breast cancer		ISO	RGD:1316727	D	RGD:2292635|PMID:17942895	20080428	RGD		mRNA:increased expression:breast	
1563603	Rad51	RAD51 recombinase	gene	DOID:1612	breast cancer		ISO	RGD:1316727	D	RGD:7240710	20260812	OMIM			
1563603	Rad51	RAD51 recombinase	gene	DOID:1612	breast cancer	resistance	ISO	RGD:1316727	D	RGD:2298722|PMID:17301259	20080718	RGD		DNA:polymorphism: :135G>C	
1563603	Rad51	RAD51 recombinase	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1316727	D	RGD:2292632|PMID:18429825	20080428	RGD		DNA:repeat	
1563603	Rad51	RAD51 recombinase	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1316727	D	RGD:2292634|PMID:17999359	20080428	RGD		DNA:polymorphism: :135G>C	
1563603	Rad51	RAD51 recombinase	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1316727	D	RGD:2292636|PMID:17180310	20080428	RGD		DNA:deletion, loss of heterozygosity	
1563603	Rad51	RAD51 recombinase	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1316727	D	RGD:2292637|PMID:16624550	20080428	RGD		DNA:SNPs	
1563603	Rad51	RAD51 recombinase	gene	DOID:1793	pancreatic cancer		IEP		D	RGD:9831172|PMID:20197614	20150227	RGD		protein:increased expression:pancreas (rat)	
1563603	Rad51	RAD51 recombinase	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:1909	melanoma		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563603	Rad51	RAD51 recombinase	gene	DOID:2152	ovary epithelial cancer	no_association	ISO	RGD:1316727	D	RGD:2298723|PMID:15924337	20080718	RGD		DNA:polymorphisms: :135G>C, 172G>T	
1563603	Rad51	RAD51 recombinase	gene	DOID:2394	ovarian cancer		ISO	RGD:1316727	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:2394	ovarian cancer	resistance	ISO	RGD:1316727	D	RGD:2298722|PMID:17301259	20080718	RGD		DNA:polymorphism: :135G>C	
1563603	Rad51	RAD51 recombinase	gene	DOID:3275	thymoma		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563603	Rad51	RAD51 recombinase	gene	DOID:4362	cervical cancer		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563603	Rad51	RAD51 recombinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532|PMID:33116287
1563603	Rad51	RAD51 recombinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563603	Rad51	RAD51 recombinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563603	Rad51	RAD51 recombinase	gene	DOID:630	genetic disease		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22305526|PMID:25741868|PMID:26681308|PMID:28492532
1563603	Rad51	RAD51 recombinase	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1316727	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22613844
1563603	Rad51	RAD51 recombinase	gene	DOID:9001581	Constipation		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:9001586	Experimental Liver Neoplasms		IEP		D	RGD:2292638|PMID:17219426	20080428	RGD		protein:decreased expression:liver	
1563603	Rad51	RAD51 recombinase	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:9002669	Hypoxia		IEP		D	RGD:9831171|PMID:21266355	20150227	RGD		associated with Gliosarcoma;mRNA:decreased expression:tumor (rat)	
1563603	Rad51	RAD51 recombinase	gene	DOID:9003133	Hypertelorism		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:15908697|PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:9005329	Preaxial Polydactyly		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Preaxial polydactyly	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:1316727	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22613844
1563603	Rad51	RAD51 recombinase	gene	DOID:9006432	Brachydactyly, Type E		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachydactyly type E	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1316727	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9885240
1563603	Rad51	RAD51 recombinase	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1316727	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34998818
1563603	Rad51	RAD51 recombinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1316727	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10807537|PMID:25741868|PMID:28492532|PMID:30613976|PMID:33116287
1563603	Rad51	RAD51 recombinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1316727	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10807537|PMID:25741868|PMID:28492532|PMID:33116287
1563603	Rad51	RAD51 recombinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532|PMID:33116287
1563603	Rad51	RAD51 recombinase	gene	DOID:9007661	Dwarfism		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1563603	Rad51	RAD51 recombinase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316727	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	
1563603	Rad51	RAD51 recombinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316727	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10807537|PMID:21242494|PMID:22305526|PMID:25741868|PMID:27830107|PMID:28492532|PMID:33116287
1563603	Rad51	RAD51 recombinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532|PMID:29100040|PMID:33116287
1563603	Rad51	RAD51 recombinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563607	Cenpa	centromere protein A	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1349480	D	RGD:9068941	20200730	RGD		mRNA:increased expression:lung (human)	PMID:30008938|REF_RGD_ID:36947379
1563607	Cenpa	centromere protein A	gene	DOID:417	autoimmune disease		ISO	RGD:1349480	D	RGD:36947376|PMID:10759786	20200730	RGD			
1563607	Cenpa	centromere protein A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349480	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1563607	Cenpa	centromere protein A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349480	D	RGD:36947377|PMID:21956590	20200730	RGD		protein:increased expression:liver (human)	
1563607	Cenpa	centromere protein A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563607	Cenpa	centromere protein A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563609	Cpvl	carboxypeptidase, vitellogenic-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563609	Cpvl	carboxypeptidase, vitellogenic-like	gene	DOID:10534	stomach cancer		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563609	Cpvl	carboxypeptidase, vitellogenic-like	gene	DOID:1115	sarcoma		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563609	Cpvl	carboxypeptidase, vitellogenic-like	gene	DOID:1324	lung cancer		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563609	Cpvl	carboxypeptidase, vitellogenic-like	gene	DOID:1909	melanoma		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563609	Cpvl	carboxypeptidase, vitellogenic-like	gene	DOID:4362	cervical cancer		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563609	Cpvl	carboxypeptidase, vitellogenic-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1345667	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563609	Cpvl	carboxypeptidase, vitellogenic-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563609	Cpvl	carboxypeptidase, vitellogenic-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563609	Cpvl	carboxypeptidase, vitellogenic-like	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1345667	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1563609	Cpvl	carboxypeptidase, vitellogenic-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563609	Cpvl	carboxypeptidase, vitellogenic-like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563609	Cpvl	carboxypeptidase, vitellogenic-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563609	Cpvl	carboxypeptidase, vitellogenic-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:0080815	childhood-onset asthma	treatment	ISO	RGD:1347258	D	RGD:628360900|PMID:33208131	20251002	RGD		DNA:SNPs::rs37969,rs37972,rs37973	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:10763	hypertension		ISO	RGD:1347258	D	RGD:628359294|PMID:29224020	20250930	RGD		associated with end stage renal disease; DNA:SNP:promoter: rs37972	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:1115	sarcoma		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:1324	lung cancer		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:1909	melanoma		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:2841	asthma	no_association	ISO	RGD:1347258	D	RGD:628359916|PMID:24131825	20251001	RGD		DNA:SNP: :rs37973	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:2841	asthma	severity	ISO	RGD:1347258	D	RGD:628359292|PMID:27133712	20250926	RGD			
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:2841	asthma	severity	ISO	RGD:1347258	D	RGD:628360899|PMID:34529984	20251002	RGD		DNA:methylation:CpG	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:2841	asthma	treatment	ISO	RGD:1347258	D	RGD:628359291|PMID:29384926	20250926	RGD		DNA:SNP: :rs37973	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:2841	asthma	treatment	ISO	RGD:1347258	D	RGD:628359292|PMID:27133712	20250926	RGD		DNA:SNPs: :rs37972, rs37973, rs11976862	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:1347258	D	RGD:628359915|PMID:28186150	20251001	RGD		DNA:SNP: :rs37973	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:9006771	Chronic Rhinosinusitis	treatment	ISO	RGD:1347258	D	RGD:628359914|PMID:30256538	20251001	RGD		DNA:SNP: :rs37973	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:9007461	Chronic Lung Allograft Dysfunction	disease_progression	ISO	RGD:1347258	D	RGD:628359295|PMID:30229311	20250930	RGD		DNA:SNP:promoter: rs37972	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps	treatment	ISO	RGD:1347258	D	RGD:628359914|PMID:30256538	20251001	RGD		DNA:SNP: :rs37973	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:9008103	Seasonal Allergic Rhinitis	treatment	ISO	RGD:1347258	D	RGD:628359913|PMID:29981236	20251001	RGD		DNA:SNP: :rs37973	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:9009382	eosinophilic chronic rhinosinusitis	treatment	ISO	RGD:1347258	D	RGD:628359914|PMID:30256538	20251001	RGD		DNA:SNP: :rs37973	
1563612	Glcci1	glucocorticoid induced 1	gene	DOID:9351	diabetes mellitus	treatment	IEP		D	RGD:11555245|PMID:27174202	20251002	RGD			
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321639	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:0080006	bone development disease		ISO	RGD:1321639	D	RGD:1599463|PMID:10615125	20070205	RGD		familial expansile osteolysis, OMIM:174810	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:0081365	Paget disease of bone 2		ISO	RGD:1321639	D	RGD:7240710	20190327	OMIM			
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:0081365	Paget disease of bone 2		ISO	RGD:1321639	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PAGET DISEASE OF BONE 2, EARLY-ONSET | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset	PMID:10615125|PMID:21472776|PMID:25741868|PMID:28492532|PMID:31923705
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:0110946	autosomal recessive osteopetrosis 7		ISO	RGD:1321639	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:0110946	autosomal recessive osteopetrosis 7		ISO	RGD:1321639	D	RGD:7240710	20130221	OMIM			
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:0110946	autosomal recessive osteopetrosis 7		ISO	RGD:1321639	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7	PMID:17576681|PMID:25741868|PMID:28492532|PMID:36597107|PMID:37076969|PMID:9536098
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:0111542	familial expansile osteolysis		ISO	RGD:1321639	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:0111542	familial expansile osteolysis		ISO	RGD:1321639	D	RGD:7240710	20130221	OMIM			
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:0111542	familial expansile osteolysis		ISO	RGD:1321639	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FAMILIAL EXPANSILE OSTEOLYSIS | ClinVar Annotator: match by term: Familial expansile osteolysis	PMID:10615125|PMID:12568416|PMID:17447113|PMID:21472776|PMID:25741868|PMID:28492532
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:10534	stomach cancer		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1321639	D	RGD:152995287|PMID:28035468	20220614	RGD		mRNA:altered expression:stomach tumor (human)	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:1059	intellectual disability		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:1115	sarcoma		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:11476	osteoporosis		ISO	RGD:1321639	D	RGD:9068941	20220825	RGD			PMID:17002564|REF_RGD_ID:1625350
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:1324	lung cancer		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:5408	Paget disease of bone		ISO	RGD:1321639	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20436471
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:5408	Paget disease of bone		ISO	RGD:1321639	D	RGD:1599463|PMID:10615125	20070205	RGD		Paget disease of bone, OMIM:602080	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:5408	Paget disease of bone		ISS	RGD:1321640	D	RGD:13592920	20230718	MouseDO			
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:630	genetic disease		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:820	myocarditis		IEP		D	RGD:2302361|PMID:18417124	20081215	RGD		associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:9000927	Alveolar Bone Loss	treatment	IEP		D	RGD:329956421|PMID:33364953	20230720	RGD		associated with periodontal disease	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1321639	D	RGD:2302322|PMID:16752412	20081212	RGD		associated with Prostatic Neoplasms;protein:increased expression:bone, lymph node	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:9001547	Tibial Fractures		IEP		D	RGD:2302324|PMID:18592139	20081215	RGD		associated with Diabetes Mellitus, Experimental	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1321639	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16270354
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321640	D	RGD:2291908|PMID:18317887	20081212	RGD		protein:increased expression:prostate gland	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:9005372	Inflammation		ISO	RGD:1321639	D	RGD:2302321|PMID:18248671	20081212	RGD		associated with Breast Neoplasms;mRNA:increased expression:breast	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563614	Tnfrsf11a	TNF receptor superfamily member 11A	gene	DOID:9256	colorectal cancer		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1563615	Cntnap3	contactin associated protein family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563615	Cntnap3	contactin associated protein family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563615	Cntnap3	contactin associated protein family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563615	Cntnap3	contactin associated protein family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1348176	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563615	Cntnap3	contactin associated protein family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563615	Cntnap3	contactin associated protein family member 3	gene	DOID:1909	melanoma		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563615	Cntnap3	contactin associated protein family member 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1563615	Cntnap3	contactin associated protein family member 3	gene	DOID:3275	thymoma		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563615	Cntnap3	contactin associated protein family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563615	Cntnap3	contactin associated protein family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563615	Cntnap3	contactin associated protein family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563619	Cpa4	carboxypeptidase A4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563619	Cpa4	carboxypeptidase A4	gene	DOID:3275	thymoma		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563619	Cpa4	carboxypeptidase A4	gene	DOID:4362	cervical cancer		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563619	Cpa4	carboxypeptidase A4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345742	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563619	Cpa4	carboxypeptidase A4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563619	Cpa4	carboxypeptidase A4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563619	Cpa4	carboxypeptidase A4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563619	Cpa4	carboxypeptidase A4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563621	Paqr7	progestin and adipoQ receptor family member 7	gene	DOID:1324	lung cancer		ISO	RGD:1606437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563621	Paqr7	progestin and adipoQ receptor family member 7	gene	DOID:3275	thymoma		ISO	RGD:1606437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563621	Paqr7	progestin and adipoQ receptor family member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563621	Paqr7	progestin and adipoQ receptor family member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563625	Zscan4f	zinc finger and SCAN domain containing 4F	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:3275	thymoma		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563627	Mtcl2	microtubule crosslinking factor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1352015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1563628	Sez6l	seizure related 6 homolog like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563628	Sez6l	seizure related 6 homolog like	gene	DOID:10283	prostate cancer		ISO	RGD:1344560	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1563628	Sez6l	seizure related 6 homolog like	gene	DOID:10283	prostate cancer		ISO	RGD:1344560	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1563628	Sez6l	seizure related 6 homolog like	gene	DOID:10534	stomach cancer		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563628	Sez6l	seizure related 6 homolog like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563628	Sez6l	seizure related 6 homolog like	gene	DOID:1115	sarcoma		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563628	Sez6l	seizure related 6 homolog like	gene	DOID:12849	autistic disorder		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1563628	Sez6l	seizure related 6 homolog like	gene	DOID:1324	lung cancer		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563628	Sez6l	seizure related 6 homolog like	gene	DOID:1909	melanoma		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563628	Sez6l	seizure related 6 homolog like	gene	DOID:4362	cervical cancer		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563628	Sez6l	seizure related 6 homolog like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563628	Sez6l	seizure related 6 homolog like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563628	Sez6l	seizure related 6 homolog like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563630	Defb5	defensin beta 5	gene	DOID:10459	common cold		ISO	RGD:1348794	D	RGD:9068941	20220114	RGD		mRNA, protein:increased expression:nasal cavity epithelium, nasal mucus	PMID:15034083|REF_RGD_ID:4892264
1563630	Defb5	defensin beta 5	gene	DOID:12120	pulmonary alveolar proteinosis		ISO	RGD:1348794	D	RGD:9068941	20220114	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:17000097|REF_RGD_ID:4892262
1563630	Defb5	defensin beta 5	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1348794	D	RGD:9068941	20220114	RGD		protein:increased expression:serum	PMID:17000097|REF_RGD_ID:4892262
1563630	Defb5	defensin beta 5	gene	DOID:1485	cystic fibrosis		ISO	RGD:1348794	D	RGD:9068941	20220114	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:9843998|REF_RGD_ID:4892267
1563630	Defb5	defensin beta 5	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1348794	D	RGD:9068941	20220114	RGD		protein:increased expression:serum	PMID:17000097|REF_RGD_ID:4892262
1563630	Defb5	defensin beta 5	gene	DOID:850	lung disease		ISO	RGD:1348794	D	RGD:9068941	20220114	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:9843998|REF_RGD_ID:4892267
1563630	Defb5	defensin beta 5	gene	DOID:874	bacterial pneumonia		ISO	RGD:1348794	D	RGD:9068941	20220114	RGD		protein:increased expression:plasma	PMID:10213993|REF_RGD_ID:4892266
1563630	Defb5	defensin beta 5	gene	DOID:9001415	Mycobacterium Infections		ISO	RGD:1348794	D	RGD:9068941	20220114	RGD		protein:increased expression:plasma, respiratory system fluid/secretion	PMID:11296379|REF_RGD_ID:4892261
1563630	Defb5	defensin beta 5	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:1348794	D	RGD:11554173	20220118	CTD		CTD Direct Evidence: marker/mechanism	PMID:24894820
1563630	Defb5	defensin beta 5	gene	DOID:9005446	Mandibular Neoplasms		ISO	RGD:1348794	D	RGD:9068941	20220114	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:11934727|REF_RGD_ID:4892265
1563633	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563633	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563633	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:0060478	Zika fever		ISO	RGD:1557813	D	RGD:32733625|PMID:30241539	20200701	RGD		mRNA:increased expression:brain	
1563633	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563633	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:1909	melanoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563633	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349759	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563633	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563633	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563633	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563633	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1349759	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1563633	Edem1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563634	Cactin	cactin, spliceosome C complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563634	Cactin	cactin, spliceosome C complex subunit	gene	DOID:1909	melanoma		ISO	RGD:1344995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563634	Cactin	cactin, spliceosome C complex subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563634	Cactin	cactin, spliceosome C complex subunit	gene	DOID:3275	thymoma		ISO	RGD:1344995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563634	Cactin	cactin, spliceosome C complex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1344995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563634	Cactin	cactin, spliceosome C complex subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1344995	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563634	Cactin	cactin, spliceosome C complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563634	Cactin	cactin, spliceosome C complex subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563634	Cactin	cactin, spliceosome C complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563634	Cactin	cactin, spliceosome C complex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563634	Cactin	cactin, spliceosome C complex subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1344995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1563642	Lancl3	LanC like family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563642	Lancl3	LanC like family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563642	Lancl3	LanC like family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563643	Enox2	ecto-NOX disulfide-thiol exchanger 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563643	Enox2	ecto-NOX disulfide-thiol exchanger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563643	Enox2	ecto-NOX disulfide-thiol exchanger 2	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1345108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1563643	Enox2	ecto-NOX disulfide-thiol exchanger 2	gene	DOID:1115	sarcoma		ISO	RGD:1345108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563643	Enox2	ecto-NOX disulfide-thiol exchanger 2	gene	DOID:1324	lung cancer		ISO	RGD:1345108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563643	Enox2	ecto-NOX disulfide-thiol exchanger 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1345108	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20518072
1563643	Enox2	ecto-NOX disulfide-thiol exchanger 2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1345108	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:26807072
1563643	Enox2	ecto-NOX disulfide-thiol exchanger 2	gene	DOID:3275	thymoma		ISO	RGD:1345108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563643	Enox2	ecto-NOX disulfide-thiol exchanger 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563643	Enox2	ecto-NOX disulfide-thiol exchanger 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563643	Enox2	ecto-NOX disulfide-thiol exchanger 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563643	Enox2	ecto-NOX disulfide-thiol exchanger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563643	Enox2	ecto-NOX disulfide-thiol exchanger 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563643	Enox2	ecto-NOX disulfide-thiol exchanger 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563655	Tlx1	T-cell leukemia, homeobox 1	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1351719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:1717256
1563655	Tlx1	T-cell leukemia, homeobox 1	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1351719	D	RGD:1599439|PMID:1683261	20070205	RGD			
1563655	Tlx1	T-cell leukemia, homeobox 1	gene	DOID:2529	splenic disease		ISO	RGD:1351719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:7908720
1563655	Tlx1	T-cell leukemia, homeobox 1	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1351719	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:20972433
1563655	Tlx1	T-cell leukemia, homeobox 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1351719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20972433
1563655	Tlx1	T-cell leukemia, homeobox 1	gene	DOID:9008692	Aneuploidy		ISO	RGD:1351719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20972433
1563660	Csgalnact2	chondroitin sulfate N-acetylgalactosaminyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563660	Csgalnact2	chondroitin sulfate N-acetylgalactosaminyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563660	Csgalnact2	chondroitin sulfate N-acetylgalactosaminyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1604805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563660	Csgalnact2	chondroitin sulfate N-acetylgalactosaminyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1604805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563660	Csgalnact2	chondroitin sulfate N-acetylgalactosaminyltransferase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563660	Csgalnact2	chondroitin sulfate N-acetylgalactosaminyltransferase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563660	Csgalnact2	chondroitin sulfate N-acetylgalactosaminyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563660	Csgalnact2	chondroitin sulfate N-acetylgalactosaminyltransferase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1604805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1563660	Csgalnact2	chondroitin sulfate N-acetylgalactosaminyltransferase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563660	Csgalnact2	chondroitin sulfate N-acetylgalactosaminyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563660	Csgalnact2	chondroitin sulfate N-acetylgalactosaminyltransferase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1563660	Csgalnact2	chondroitin sulfate N-acetylgalactosaminyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563660	Csgalnact2	chondroitin sulfate N-acetylgalactosaminyltransferase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1604805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1563666	Hdx	highly divergent homeobox	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563666	Hdx	highly divergent homeobox	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563666	Hdx	highly divergent homeobox	gene	DOID:4362	cervical cancer		ISO	RGD:1348226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563666	Hdx	highly divergent homeobox	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563666	Hdx	highly divergent homeobox	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563666	Hdx	highly divergent homeobox	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563666	Hdx	highly divergent homeobox	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563669	Med9	mediator complex subunit 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563670	Cabp2	calcium binding protein 2	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1348224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness	PMID:24033266|PMID:25741868|PMID:26445815|PMID:28492532|PMID:38192829
1563670	Cabp2	calcium binding protein 2	gene	DOID:0110537	autosomal recessive nonsyndromic deafness 93		ISO	RGD:1348224	D	RGD:7240710	20140911	OMIM			
1563670	Cabp2	calcium binding protein 2	gene	DOID:0110537	autosomal recessive nonsyndromic deafness 93		ISO	RGD:1348224	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CABP2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 93	PMID:24033266|PMID:25741868|PMID:26445815|PMID:28492532|PMID:38192829
1563670	Cabp2	calcium binding protein 2	gene	DOID:0110537	autosomal recessive nonsyndromic deafness 93		ISS	RGD:1558197	D	RGD:13592920	20230718	MouseDO		OMIM:614899	
1563670	Cabp2	calcium binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1348224	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1563670	Cabp2	calcium binding protein 2	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1348224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868|PMID:28492532
1563670	Cabp2	calcium binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1348224	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1563670	Cabp2	calcium binding protein 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:30311386
1563674	Fahd2a	fumarylacetoacetate hydrolase domain containing 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1345912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563674	Fahd2a	fumarylacetoacetate hydrolase domain containing 2A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1345912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563674	Fahd2a	fumarylacetoacetate hydrolase domain containing 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563680	Cdin1	CDAN1 interacting nuclease 1	gene	DOID:0111397	congenital dyserythropoietic anemia type Ib		ISO	RGD:1607000	D	RGD:7240710	20191009	OMIM			
1563680	Cdin1	CDAN1 interacting nuclease 1	gene	DOID:0111397	congenital dyserythropoietic anemia type Ib		ISO	RGD:1607000	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | ClinVar Annotator: match by term: CDIN1-related condition	PMID:23716552|PMID:25741868|PMID:28492532
1563680	Cdin1	CDAN1 interacting nuclease 1	gene	DOID:10534	stomach cancer		ISO	RGD:1607000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1563680	Cdin1	CDAN1 interacting nuclease 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563680	Cdin1	CDAN1 interacting nuclease 1	gene	DOID:1115	sarcoma		ISO	RGD:1607000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1563680	Cdin1	CDAN1 interacting nuclease 1	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1607000	D	RGD:11554173	20191015	CTD		CTD Direct Evidence: marker/mechanism	
1563680	Cdin1	CDAN1 interacting nuclease 1	gene	DOID:4362	cervical cancer		ISO	RGD:1607000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1563680	Cdin1	CDAN1 interacting nuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563680	Cdin1	CDAN1 interacting nuclease 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1563680	Cdin1	CDAN1 interacting nuclease 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563680	Cdin1	CDAN1 interacting nuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1563681	Gpr34	G protein-coupled receptor 34	gene	DOID:5119	ovarian cyst		ISO	RGD:1349710	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
1563684	Hnrnpa0	heterogeneous nuclear ribonucleoprotein A0	gene	DOID:3717	gastric adenocarcinoma	severity	ISO	RGD:1318867	D	RGD:9854641|PMID:23007704	20150407	RGD		mRNA:decreased expression:gastric adenocarcinoma (human)	
1563686	Lpar4	lysophosphatidic acid receptor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563686	Lpar4	lysophosphatidic acid receptor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563686	Lpar4	lysophosphatidic acid receptor 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:30612693
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:0080436	developmental and epileptic encephalopathy 4		ISO	RGD:1347522	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4	PMID:25741868
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:1059	intellectual disability		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:30612693|PMID:30945334
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1347522	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:1227	neutropenia		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:12849	autistic disorder		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:1826	epilepsy		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:30612693
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:1909	melanoma		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:3275	thymoma		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347522	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:540	strabismus		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:630	genetic disease		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30612693|PMID:30945334|PMID:39039281|PMID:39825153
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:8927	learning disability		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9001722	Dysarthria		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:30612693
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868|PMID:30612693
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9002569	Overweight		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868|PMID:30612693|PMID:30945334
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9004009	Reperfusion Injury		IDA		D	RGD:2293339|PMID:16805806	20081209	RGD		protein:increased activity:hippocampus	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:30612693|PMID:30945334|PMID:39039281|PMID:39825153
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9004866	Ataxia		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:30612693
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:25741868|PMID:30612693
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:30612693|PMID:30945334
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9005897	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES		ISO	RGD:1347522	D	RGD:7240710	20190918	OMIM			
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9005897	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MAPK8IP3-related disorder	PMID:25741868|PMID:28492532|PMID:30612693
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of brain	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:30612693
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9008582	Developmental Disease		ISO	RGD:1347522	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
1563691	Mapk8ip3	mitogen-activated protein kinase 8 interacting protein 3	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1347522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:30612693
1563692	Mab21l4	mab-21 like 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563692	Mab21l4	mab-21 like 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1605342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1563692	Mab21l4	mab-21 like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563692	Mab21l4	mab-21 like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563696	Tmem182	transmembrane protein 182	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563696	Tmem182	transmembrane protein 182	gene	DOID:0080600	COVID-19		ISO	RGD:1604752	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1563696	Tmem182	transmembrane protein 182	gene	DOID:10534	stomach cancer		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563696	Tmem182	transmembrane protein 182	gene	DOID:1324	lung cancer		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563696	Tmem182	transmembrane protein 182	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563696	Tmem182	transmembrane protein 182	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604752	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1563696	Tmem182	transmembrane protein 182	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563696	Tmem182	transmembrane protein 182	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563696	Tmem182	transmembrane protein 182	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:25741868|PMID:25772934
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0080198	infantile histiocytoid cardiomyopathy		ISO	RGD:1347474	D	RGD:8554872	20190409	ClinVar		ClinVar Annotator: match by term: Histiocytoid cardiomyopathy	PMID:25741868|PMID:25772934
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0111808	linear skin defects with multiple congenital anomalies 1		ISO	RGD:1347474	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0111808	linear skin defects with multiple congenital anomalies 1		ISO	RGD:1347474	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 | ClinVar Annotator: match by term: MIDAS SYNDROME	PMID:25741868|PMID:25772934|PMID:28492532|PMID:34490615
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0111875	MLS syndrome		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MLS syndrome	PMID:25741868|PMID:25772934
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0111876	linear skin defects with multiple congenital anomalies 3		ISO	RGD:1347474	D	RGD:7240710	20161019	OMIM			
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0111876	linear skin defects with multiple congenital anomalies 3		ISO	RGD:1347474	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3	PMID:25741868|PMID:25772934|PMID:26741492|PMID:27488349|PMID:28050600|PMID:28492532|PMID:30423443|PMID:31243186|PMID:36252119
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:25772934
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0112098	nuclear type mitochondrial complex I deficiency 30		ISO	RGD:1347474	D	RGD:7240710	20190315	OMIM			
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:0112098	nuclear type mitochondrial complex I deficiency 30		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 30 | ClinVar Annotator: match by term: NDUFB11-related disorders	PMID:25741868|PMID:25772934|PMID:26741492|PMID:27488349|PMID:28050600|PMID:28492532|PMID:30423443|PMID:31243186|PMID:36252119
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:10579	leukodystrophy		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:1059	intellectual disability		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:5041	esophageal cancer		ISO	RGD:1347474	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:543	dystonia		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:630	genetic disease		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:9000495	Tremor		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1347474	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1563698	Ndufb11	NADH:ubiquinone oxidoreductase subunit B11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563701	Wdcp	WD repeat and coiled coil containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563703	Slc25a48	solute carrier family 25, member 48	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563703	Slc25a48	solute carrier family 25, member 48	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563703	Slc25a48	solute carrier family 25, member 48	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563709	Tuba1c-ps1	tubulin, alpha 1C, pseudogene 1	gene	DOID:576	proteinuria		IAGP		D	RGD:12798539|PMID:21257920	20170324	RGD			
1563711	Fibin	fin bud initiation factor homolog	gene	DOID:9775	diastolic heart failure		ISO	RGD:1606090	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1563714	Armh1	armadillo-like helical domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563714	Armh1	armadillo-like helical domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563714	Armh1	armadillo-like helical domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1606401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563714	Armh1	armadillo-like helical domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563714	Armh1	armadillo-like helical domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563714	Armh1	armadillo-like helical domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563714	Armh1	armadillo-like helical domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563715	Gemin4	gem (nuclear organelle) associated protein 4	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1344278	D	RGD:401900681|PMID:25495208	20231115	RGD		DNA:SNP:Promoter:C>T(rs910924)(human)	
1563715	Gemin4	gem (nuclear organelle) associated protein 4	gene	DOID:0081263	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		ISO	RGD:1344278	D	RGD:7240710	20220119	OMIM			
1563715	Gemin4	gem (nuclear organelle) associated protein 4	gene	DOID:0081263	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		ISO	RGD:1344278	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GEMIN4-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	PMID:25741868|PMID:28492532|PMID:29371219|PMID:36553572
1563715	Gemin4	gem (nuclear organelle) associated protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563715	Gemin4	gem (nuclear organelle) associated protein 4	gene	DOID:83	cataract		ISO	RGD:1344278	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital cataract	PMID:25741868
1563719	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563719	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:1115	sarcoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563719	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603191	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563719	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563719	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:6039	uveal melanoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1563719	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563719	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563719	Cracr2a	calcium release activated channel regulator 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563721	Otud7a	OTU deubiquitinase 7A	gene	DOID:0050889	non-syndromic intellectual disability		ISO	RGD:1351552	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Non-syndromic intellectual disability	PMID:25741868
1563721	Otud7a	OTU deubiquitinase 7A	gene	DOID:0060394	chromosome 15q13.3 microdeletion syndrome		ISS	RGD:1620659	D	RGD:13592920	20180518	MouseDO		OMIM:612001	
1563721	Otud7a	OTU deubiquitinase 7A	gene	DOID:10534	stomach cancer		ISO	RGD:1351552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563721	Otud7a	OTU deubiquitinase 7A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563721	Otud7a	OTU deubiquitinase 7A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351552	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
1563721	Otud7a	OTU deubiquitinase 7A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1563721	Otud7a	OTU deubiquitinase 7A	gene	DOID:9008303	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES		ISO	RGD:1351552	D	RGD:7240710	20240529	OMIM			
1563721	Otud7a	OTU deubiquitinase 7A	gene	DOID:9008303	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES		ISO	RGD:1351552	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES | ClinVar Annotator: match by term: OTUD7A-related condition	PMID:25741868|PMID:31997314
1563721	Otud7a	OTU deubiquitinase 7A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563726	Spata16	spermatogenesis associated 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563726	Spata16	spermatogenesis associated 16	gene	DOID:0070167	spermatogenic failure 6		ISO	RGD:1351808	D	RGD:7240710	20130221	OMIM			
1563726	Spata16	spermatogenesis associated 16	gene	DOID:0070167	spermatogenic failure 6		ISO	RGD:1351808	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPATA16-related condition | ClinVar Annotator: match by term: Spermatogenic failure 6	PMID:25741868|PMID:28492532
1563726	Spata16	spermatogenesis associated 16	gene	DOID:12336	male infertility		ISS	RGD:1557391	D	RGD:13592920	20180705	MouseDO			
1563726	Spata16	spermatogenesis associated 16	gene	DOID:3275	thymoma		ISO	RGD:1351808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563726	Spata16	spermatogenesis associated 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1351808	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563726	Spata16	spermatogenesis associated 16	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
1563726	Spata16	spermatogenesis associated 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563726	Spata16	spermatogenesis associated 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1351808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
1563737	Tmem44	transmembrane protein 44	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563737	Tmem44	transmembrane protein 44	gene	DOID:10534	stomach cancer		ISO	RGD:1344878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563737	Tmem44	transmembrane protein 44	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563737	Tmem44	transmembrane protein 44	gene	DOID:1909	melanoma		ISO	RGD:1344878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563737	Tmem44	transmembrane protein 44	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563737	Tmem44	transmembrane protein 44	gene	DOID:2394	ovarian cancer		ISO	RGD:1344878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1563737	Tmem44	transmembrane protein 44	gene	DOID:5041	esophageal cancer		ISO	RGD:1344878	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563737	Tmem44	transmembrane protein 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563737	Tmem44	transmembrane protein 44	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1563737	Tmem44	transmembrane protein 44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563746	Meioc	meiosis specific with coiled-coil domain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605246	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563746	Meioc	meiosis specific with coiled-coil domain	gene	DOID:10534	stomach cancer		ISO	RGD:1605246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563746	Meioc	meiosis specific with coiled-coil domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563746	Meioc	meiosis specific with coiled-coil domain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563746	Meioc	meiosis specific with coiled-coil domain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563748	Potem	POTE ankyrin domain family member M	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:3378638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563752	Pnma3	PNMA family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563752	Pnma3	PNMA family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1349093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563752	Pnma3	PNMA family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563761	Washc3	WASH complex subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563761	Washc3	WASH complex subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563761	Washc3	WASH complex subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563761	Washc3	WASH complex subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1606297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563761	Washc3	WASH complex subunit 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563761	Washc3	WASH complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563761	Washc3	WASH complex subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563764	Phf14	PHD finger protein 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563764	Phf14	PHD finger protein 14	gene	DOID:10534	stomach cancer		ISO	RGD:1349780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563764	Phf14	PHD finger protein 14	gene	DOID:1115	sarcoma		ISO	RGD:1349780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563764	Phf14	PHD finger protein 14	gene	DOID:1324	lung cancer		ISO	RGD:1349780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563764	Phf14	PHD finger protein 14	gene	DOID:1909	melanoma		ISO	RGD:1349780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563764	Phf14	PHD finger protein 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563764	Phf14	PHD finger protein 14	gene	DOID:3070	high grade glioma		ISO	RGD:1349780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563764	Phf14	PHD finger protein 14	gene	DOID:3275	thymoma		ISO	RGD:1349780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563764	Phf14	PHD finger protein 14	gene	DOID:4362	cervical cancer		ISO	RGD:1349780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563764	Phf14	PHD finger protein 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1349780	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563764	Phf14	PHD finger protein 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349780	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563764	Phf14	PHD finger protein 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563764	Phf14	PHD finger protein 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563764	Phf14	PHD finger protein 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563764	Phf14	PHD finger protein 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563765	Rad51c	RAD51 paralog C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563765	Rad51c	RAD51 paralog C	gene	DOID:0111096	Fanconi anemia complementation group O		ISO	RGD:1350974	D	RGD:7240710	20260729	OMIM			
1563765	Rad51c	RAD51 paralog C	gene	DOID:0111096	Fanconi anemia complementation group O		ISO	RGD:1350974	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: Fanconi anemia, complementation group O | ClinVar Annotator: match by term: RAD51C-related condition	PMID:12442171|PMID:12966089|PMID:14704354|PMID:15126333|PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22406018|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25338684|PMID:25470109|PMID:25640679|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26824983|PMID:26845104|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27328445|PMID:27616075|PMID:27622768|PMID:27908594|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:28975465|PMID:29020732|PMID:29054568|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29922827|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30322717|PMID:30551670|PMID:30875412|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31078974|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32398771|PMID:32427313|PMID:32658311|PMID:32809180|PMID:32832836|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33047316|PMID:33134171|PMID:33194656|PMID:33219106|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33646313|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37762649|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:38874686|PMID:39299233|PMID:39440754|PMID:40649708|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:10283	prostate cancer		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:20400964|PMID:22167183|PMID:22451500|PMID:22538716|PMID:24141787|PMID:24141797|PMID:24993905|PMID:25292178|PMID:25741868|PMID:26354865|PMID:27328445|PMID:28492532|PMID:35565380|PMID:36099300|PMID:37253112|PMID:37762649
1563765	Rad51c	RAD51 paralog C	gene	DOID:10534	stomach cancer		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:22725699|PMID:25741868|PMID:26720728|PMID:26824983|PMID:28492532|PMID:29566657|PMID:30093976|PMID:30875412|PMID:31815095|PMID:33333735|PMID:33471991|PMID:33563768|PMID:35014770|PMID:36988593|PMID:38355628
1563765	Rad51c	RAD51 paralog C	gene	DOID:10907	microcephaly		ISO	RGD:1350974	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:33309985|PMID:37253112
1563765	Rad51c	RAD51 paralog C	gene	DOID:13636	Fanconi anemia		ISO	RGD:1350974	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20400963
1563765	Rad51c	RAD51 paralog C	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336|PMID:37253112
1563765	Rad51c	RAD51 paralog C	gene	DOID:1612	breast cancer		ISO	RGD:1350974	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23149936|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:31874108|PMID:32659497|PMID:32885271|PMID:33471991|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:1612	breast cancer		ISO	RGD:1350974	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:31874108|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:1612	breast cancer		ISO	RGD:1350974	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30949688|PMID:31874108|PMID:32068069|PMID:32606146|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:33858678|PMID:35565380|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:1612	breast cancer		ISO	RGD:1350974	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29278735|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30949688|PMID:31874108|PMID:32068069|PMID:32606146|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34326862|PMID:35039523|PMID:35565380|PMID:36099300|PMID:36562461|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:1612	breast cancer		ISO	RGD:1350974	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29278735|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30949688|PMID:31874108|PMID:32068069|PMID:32107557|PMID:32606146|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34326862|PMID:35039523|PMID:35565380|PMID:35980532|PMID:36099300|PMID:36562461|PMID:37253112|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:1612	breast cancer		ISO	RGD:1350974	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24141787|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29278735|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30949688|PMID:31874108|PMID:32068069|PMID:32107557|PMID:32606146|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34326862|PMID:35039523|PMID:35565380|PMID:35980532|PMID:36099300|PMID:36368728|PMID:36562461|PMID:37253112|PMID:37450374|PMID:37488098|PMID:39299233|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:1612	breast cancer		ISO	RGD:1350974	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17576681|PMID:20400963|PMID:20400964|PMID:21537932|PMID:21990120|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24800917|PMID:24993905|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26720728|PMID:26740214|PMID:26845104|PMID:26976419|PMID:27433846|PMID:27622768|PMID:27913932|PMID:28024868|PMID:28492532|PMID:28829762|PMID:29255180|PMID:29278735|PMID:29409816|PMID:29659569|PMID:30322717|PMID:31078974|PMID:31125277|PMID:31300551|PMID:31642931|PMID:31782267|PMID:31784482|PMID:32885271|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33606809|PMID:34326862|PMID:35039523|PMID:35155181|PMID:35264596|PMID:35534704|PMID:35740625|PMID:36099300|PMID:36329109|PMID:36451132|PMID:36977404|PMID:36988593|PMID:37253112|PMID:37444530|PMID:37843130|PMID:38915363|PMID:39256447|PMID:39299233|PMID:39440754|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:1964	fallopian tube cancer		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: fallopian tube cancer	PMID:25741868
1563765	Rad51c	RAD51 paralog C	gene	DOID:2394	ovarian cancer		ISO	RGD:1350974	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:12966089|PMID:16199547|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:23117857|PMID:23176254|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24315737|PMID:24549055|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25154786|PMID:25292178|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26354865|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26845104|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27328445|PMID:27433846|PMID:27616075|PMID:27621404|PMID:27622768|PMID:28123851|PMID:28152038|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29566657|PMID:29641532|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30551670|PMID:30949688|PMID:30982232|PMID:31078974|PMID:31159747|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31843900|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32427313|PMID:32658311|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33309985|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33606809|PMID:33858678|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34923718|PMID:35039523|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35740625|PMID:36099300|PMID:36562461|PMID:36977404|PMID:37253112|PMID:37444530|PMID:37563628|PMID:37762649|PMID:38355628|PMID:39299233|PMID:39440754|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:3459	breast carcinoma		ISO	RGD:1350974	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:20400964|PMID:21990120|PMID:24800917|PMID:25741868|PMID:28492532|PMID:29470806|PMID:32658311|PMID:37253112|PMID:38439815
1563765	Rad51c	RAD51 paralog C	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:22476429|PMID:23117857|PMID:25741868|PMID:26261251|PMID:28492532|PMID:33471991|PMID:37253112
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:7240710	20260729	OMIM			
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33134171|PMID:33471991|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33333735|PMID:33471991|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:34426522|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:34426522|PMID:35806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32986223|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36988593|PMID:37253112|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32986223|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36977404|PMID:36988593|PMID:37253112|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37450374|PMID:37488098|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37450374|PMID:37488098|PMID:37762649|PMID:39299233|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31784482|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37444530|PMID:37450374|PMID:37488098|PMID:37762649|PMID:38355628|PMID:39299233|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31784482|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570411|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37444530|PMID:37450374|PMID:37488098|PMID:37762649|PMID:38355628|PMID:38874686|PMID:39299233|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12442171|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31784482|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570411|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36974006|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37444530|PMID:37450374|PMID:37488098|PMID:37563628|PMID:37762649|PMID:37843130|PMID:38136308|PMID:38355628|PMID:38874686|PMID:39299233|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:12442171|PMID:12966089|PMID:14704354|PMID:15170666|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31784482|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34570411|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36974006|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37444530|PMID:37450374|PMID:37488098|PMID:37563628|PMID:37762649|PMID:37843130|PMID:38136308|PMID:38355628|PMID:38874686|PMID:39299233|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:12442171|PMID:12966089|PMID:14704354|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23704328|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27908594|PMID:27993330|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28649662|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28966033|PMID:29053726|PMID:29054568|PMID:29255180|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29758562|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30257646|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30875412|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31078974|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31472684|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32809180|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32986223|PMID:33011440|PMID:33134171|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33858678|PMID:34284872|PMID:34326862|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37762649|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:39440754|PMID:40649708|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:12442171|PMID:12966089|PMID:14704354|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23704328|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27908594|PMID:27993330|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28649662|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28966033|PMID:29053726|PMID:29054568|PMID:29255180|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29758562|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30257646|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30875412|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31078974|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31472684|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32809180|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32986223|PMID:33011440|PMID:33134171|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33858678|PMID:34284872|PMID:34326862|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37762649|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:39440754|PMID:40649708|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:12442171|PMID:12966089|PMID:14704354|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23704328|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25452441|PMID:25470109|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27443514|PMID:27616075|PMID:27622768|PMID:27908594|PMID:27993330|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28588062|PMID:28649662|PMID:28709830|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28966033|PMID:29053726|PMID:29054568|PMID:29255180|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29758562|PMID:29922827|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30257646|PMID:30306255|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31472684|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32986223|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33858678|PMID:34284872|PMID:34326862|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35884425|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36169650|PMID:36243179|PMID:36562461|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37762649|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:40649708|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:12442171|PMID:12966089|PMID:14704354|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23704328|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27908594|PMID:27993330|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28966033|PMID:29053726|PMID:29054568|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29758562|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30257646|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31472684|PMID:31742824|PMID:31815095|PMID:31843900|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33471991|PMID:33563768|PMID:33939675|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36562461|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37762649|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:40649708|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350974	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:12442171|PMID:12966089|PMID:14704354|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23704328|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25338684|PMID:25470109|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27443514|PMID:27616075|PMID:27622768|PMID:27908594|PMID:27993330|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28649662|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28966033|PMID:29053726|PMID:29054568|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29758562|PMID:29922827|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30306255|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30875412|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31078974|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31472684|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33134171|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33563768|PMID:33606809|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37762649|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:39440754|PMID:40649708|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563765	Rad51c	RAD51 paralog C	gene	DOID:6741	bilateral breast cancer		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma, bilateral	PMID:25741868|PMID:28492532
1563765	Rad51c	RAD51 paralog C	gene	DOID:6901	hereditary ovarian carcinoma		ISO	RGD:1350974	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial ovarian carcinoma	PMID:25741868|PMID:33832919|PMID:36099300|PMID:39299233
1563765	Rad51c	RAD51 paralog C	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1350974	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20400964
1563765	Rad51c	RAD51 paralog C	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1350974	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:20400964|PMID:21990120|PMID:24800917|PMID:25741868|PMID:28492532|PMID:29278735
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23149936|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30924587|PMID:30927251|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31742824|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33471991|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30924587|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31742824|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34426522|PMID:35806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30924587|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31742824|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34426522|PMID:35806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:33011440|PMID:33077847|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36562461|PMID:36988593|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36562461|PMID:36988593|PMID:37253112|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37344589|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33042626|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37450374|PMID:37488098|PMID:38003901|PMID:38153744|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31078974|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31784482|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33042626|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570411|PMID:34570441|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35734982|PMID:35740625|PMID:35806449|PMID:35957908|PMID:35980532|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36368728|PMID:36562461|PMID:36909564|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:37298034|PMID:37344589|PMID:37444530|PMID:37450374|PMID:37488098|PMID:37762649|PMID:38003901|PMID:38153744|PMID:38355628|PMID:38874686|PMID:39299233|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23500037|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25452441|PMID:25470109|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26354865|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27908594|PMID:28125075|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29255180|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29758562|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30875412|PMID:30949688|PMID:30995915|PMID:31078974|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32658311|PMID:32809180|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33858678|PMID:34284872|PMID:34326862|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36200007|PMID:36243179|PMID:36977404|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37725924|PMID:37762649|PMID:38003901|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:39440754|PMID:40429818|PMID:40649708|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23500037|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25452441|PMID:25470109|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26354865|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27498913|PMID:27616075|PMID:27622768|PMID:27908594|PMID:28125075|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28588062|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29255180|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29758562|PMID:29858219|PMID:29922827|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30257646|PMID:30322717|PMID:30426508|PMID:30551670|PMID:30847381|PMID:30875412|PMID:30949688|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32658311|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33077847|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33858678|PMID:34284872|PMID:34326862|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35806449|PMID:35884425|PMID:35980532|PMID:36099300|PMID:36169650|PMID:36200007|PMID:36243179|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37725924|PMID:37762649|PMID:38003901|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:40429818|PMID:40649708|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23500037|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26354865|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27230542|PMID:27328445|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27908594|PMID:28007021|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28492532|PMID:28588062|PMID:28678401|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29758562|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30847381|PMID:30875412|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31742824|PMID:31815095|PMID:31843900|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32658311|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:33077847|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33471991|PMID:33563768|PMID:33939675|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35658948|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36200007|PMID:36243179|PMID:36562461|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37725924|PMID:37762649|PMID:38003901|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:40429818|PMID:40649708|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1350974	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22451500|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23500037|PMID:24139550|PMID:24141787|PMID:24141797|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26354865|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149842|PMID:27328445|PMID:27498913|PMID:27616075|PMID:27622768|PMID:27908594|PMID:28007021|PMID:28125075|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29054568|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29858219|PMID:29922827|PMID:30093976|PMID:30128536|PMID:30322717|PMID:30426508|PMID:30551670|PMID:30875412|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31078974|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32338768|PMID:32398771|PMID:32427313|PMID:32658311|PMID:32809180|PMID:32832836|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33277227|PMID:33309985|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33563768|PMID:33606809|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34606182|PMID:34761457|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35127508|PMID:35186721|PMID:35264596|PMID:35451682|PMID:35534704|PMID:35565380|PMID:35740625|PMID:35806449|PMID:35980532|PMID:36099300|PMID:36200007|PMID:36243179|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37253112|PMID:37344587|PMID:37344589|PMID:37444530|PMID:37725924|PMID:37762649|PMID:38003901|PMID:38134886|PMID:38330859|PMID:38355628|PMID:38360632|PMID:38439815|PMID:39299233|PMID:39440754|PMID:40429818|PMID:40649708|PMID:5806449|PMID:9536098
1563765	Rad51c	RAD51 paralog C	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350974	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:20400964|PMID:28825726
1563765	Rad51c	RAD51 paralog C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563775	Pcnp	PEST proteolytic signal containing nuclear protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563775	Pcnp	PEST proteolytic signal containing nuclear protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563775	Pcnp	PEST proteolytic signal containing nuclear protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563775	Pcnp	PEST proteolytic signal containing nuclear protein	gene	DOID:1909	melanoma		ISO	RGD:1603975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563775	Pcnp	PEST proteolytic signal containing nuclear protein	gene	DOID:4362	cervical cancer		ISO	RGD:1603975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563775	Pcnp	PEST proteolytic signal containing nuclear protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563777	Plac1	placenta associated 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563777	Plac1	placenta associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563782	Ccdc188	coiled-coil domain containing 188	gene	DOID:0112311	male infertility due to acephalic spermatozoa		ISS	RGD:1621006	D	RGD:13592920	20250320	MouseDO			
1563782	Ccdc188	coiled-coil domain containing 188	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:10400964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563788	Spmip4	sperm microtubule inner protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563788	Spmip4	sperm microtubule inner protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563788	Spmip4	sperm microtubule inner protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1349806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563788	Spmip4	sperm microtubule inner protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1349806	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563788	Spmip4	sperm microtubule inner protein 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1349806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1563788	Spmip4	sperm microtubule inner protein 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1563788	Spmip4	sperm microtubule inner protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563788	Spmip4	sperm microtubule inner protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563798	Lsm14b	LSM family member 14B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563798	Lsm14b	LSM family member 14B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563798	Lsm14b	LSM family member 14B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563798	Lsm14b	LSM family member 14B	gene	DOID:5041	esophageal cancer		ISO	RGD:1351489	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563798	Lsm14b	LSM family member 14B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563798	Lsm14b	LSM family member 14B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563798	Lsm14b	LSM family member 14B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563803	Lmnb2	lamin B2	gene	DOID:0051038	autosomal dominant primary microcephaly 27		ISO	RGD:1345535	D	RGD:7240710	20260812	OMIM			
1563803	Lmnb2	lamin B2	gene	DOID:0051038	autosomal dominant primary microcephaly 27		ISO	RGD:1345535	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant	PMID:25741868|PMID:28492532
1563803	Lmnb2	lamin B2	gene	DOID:0080299	partial lipodystrophy		ISO	RGD:1345535	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1563803	Lmnb2	lamin B2	gene	DOID:0080299	partial lipodystrophy		ISO	RGD:1345535	D	RGD:7240710	20260812	OMIM			
1563803	Lmnb2	lamin B2	gene	DOID:0080299	partial lipodystrophy		ISO	RGD:1345535	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: APLD, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lipodystrophy, partial, acquired, susceptibility to	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32041611|PMID:33783721|PMID:34466237|PMID:35011612|PMID:9536098
1563803	Lmnb2	lamin B2	gene	DOID:0111450	progressive myoclonus epilepsy 9		ISO	RGD:1345535	D	RGD:7240710	20260812	OMIM			
1563803	Lmnb2	lamin B2	gene	DOID:0111450	progressive myoclonus epilepsy 9		ISO	RGD:1345535	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 9 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9	PMID:25741868|PMID:28492532
1563803	Lmnb2	lamin B2	gene	DOID:10907	microcephaly		ISO	RGD:1345535	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1563803	Lmnb2	lamin B2	gene	DOID:1115	sarcoma		ISO	RGD:1345535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563803	Lmnb2	lamin B2	gene	DOID:4362	cervical cancer		ISO	RGD:1345535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563803	Lmnb2	lamin B2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345535	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563803	Lmnb2	lamin B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563803	Lmnb2	lamin B2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1345535	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1563803	Lmnb2	lamin B2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345535	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1563804	Hcfc1	host cell factor C1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17576681|PMID:28492532|PMID:9536098
1563804	Hcfc1	host cell factor C1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:0050562	West syndrome		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563804	Hcfc1	host cell factor C1	gene	DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type		ISO	RGD:1345622	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563804	Hcfc1	host cell factor C1	gene	DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type		ISO	RGD:1345622	D	RGD:7240710	20130425	OMIM			
1563804	Hcfc1	host cell factor C1	gene	DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type		ISO	RGD:1345622	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HCFC1-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 | ClinVar Annotator: match by term: Mental retardation 3, X-linked | ClinVar Annotator: match by term: Mental retardation, X-linked 3	PMID:25741868|PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type		ISS	RGD:1557256	D	RGD:13592920	20230718	MouseDO		OMIM:309541	
1563804	Hcfc1	host cell factor C1	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1345622	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A Deficiency	PMID:25741868
1563804	Hcfc1	host cell factor C1	gene	DOID:1059	intellectual disability		ISO	RGD:1345622	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:24011988|PMID:25167861|PMID:25281006|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28492532|PMID:38703036
1563804	Hcfc1	host cell factor C1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563804	Hcfc1	host cell factor C1	gene	DOID:11353	bladder diverticulum		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diverticulum of bladder	PMID:24011988|PMID:25741868|PMID:28363510|PMID:28449119|PMID:28492532|PMID:35013307
1563804	Hcfc1	host cell factor C1	gene	DOID:11383	cryptorchidism		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
1563804	Hcfc1	host cell factor C1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:14703850|RGD:14713347|RGD:26906776	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron deficiency anemia	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:11830	myopia		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1563804	Hcfc1	host cell factor C1	gene	DOID:11836	clubfoot		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
1563804	Hcfc1	host cell factor C1	gene	DOID:11963	esophagitis		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophagitis	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:1205	allergic disease		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:12849	autistic disorder		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25740848|PMID:25741868|PMID:28492532|PMID:28554332
1563804	Hcfc1	host cell factor C1	gene	DOID:12859	choreatic disease		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Methylmalonic acidemia | ClinVar Annotator: match by term: Methylmalonic aciduria	PMID:1870093|PMID:24011988|PMID:25741868|PMID:28363510|PMID:28449119|PMID:28492532|PMID:35013307
1563804	Hcfc1	host cell factor C1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1345622	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868|PMID:32165824
1563804	Hcfc1	host cell factor C1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1563804	Hcfc1	host cell factor C1	gene	DOID:1826	epilepsy		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24011988|PMID:25741868|PMID:28363510|PMID:28449119|PMID:28492532|PMID:35013307
1563804	Hcfc1	host cell factor C1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:24011988|PMID:25741868|PMID:28363510|PMID:28449119|PMID:28492532|PMID:35013307
1563804	Hcfc1	host cell factor C1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:1909	melanoma		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563804	Hcfc1	host cell factor C1	gene	DOID:1969	cerebral palsy		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1563804	Hcfc1	host cell factor C1	gene	DOID:2034	encephalomalacia		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalomalacia	PMID:24011988|PMID:25741868|PMID:28363510|PMID:28449119|PMID:28492532|PMID:35013307
1563804	Hcfc1	host cell factor C1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345622	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563804	Hcfc1	host cell factor C1	gene	DOID:540	strabismus		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563804	Hcfc1	host cell factor C1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563804	Hcfc1	host cell factor C1	gene	DOID:630	genetic disease		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25740848|PMID:25741868|PMID:28492532|PMID:28554332
1563804	Hcfc1	host cell factor C1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism	PMID:24011988|PMID:25741868|PMID:28363510|PMID:28449119|PMID:28492532|PMID:35013307
1563804	Hcfc1	host cell factor C1	gene	DOID:674	cleft palate		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1563804	Hcfc1	host cell factor C1	gene	DOID:8488	polyhydramnios		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1563804	Hcfc1	host cell factor C1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:8927	learning disability		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:17576681|PMID:28492532|PMID:9536098
1563804	Hcfc1	host cell factor C1	gene	DOID:9001255	Kabuki Syndrome 1		ISO	RGD:1345622	D	RGD:8554872	20191224	ClinVar		ClinVar Annotator: match by term: Kabuki syndrome 1	PMID:25741868|PMID:29255178
1563804	Hcfc1	host cell factor C1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	
1563804	Hcfc1	host cell factor C1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
1563804	Hcfc1	host cell factor C1	gene	DOID:9001581	Constipation		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
1563804	Hcfc1	host cell factor C1	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345622	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1563804	Hcfc1	host cell factor C1	gene	DOID:9004898	Jaundice		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:24011988|PMID:25741868|PMID:28363510|PMID:28449119|PMID:28492532|PMID:35013307
1563804	Hcfc1	host cell factor C1	gene	DOID:9005077	Joint Instability		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:17576681|PMID:28492532|PMID:9536098
1563804	Hcfc1	host cell factor C1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:24011988|PMID:25741868|PMID:28363510|PMID:28449119|PMID:28492532|PMID:35013307
1563804	Hcfc1	host cell factor C1	gene	DOID:9005616	Micrognathism		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1345622	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19255062
1563804	Hcfc1	host cell factor C1	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	PMID:28492532
1563804	Hcfc1	host cell factor C1	gene	DOID:9007661	Dwarfism		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1563804	Hcfc1	host cell factor C1	gene	DOID:9007817	Macroglossia		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868
1563804	Hcfc1	host cell factor C1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17576681|PMID:28492532|PMID:9536098
1563804	Hcfc1	host cell factor C1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563804	Hcfc1	host cell factor C1	gene	DOID:9296	cleft lip		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868
1563804	Hcfc1	host cell factor C1	gene	DOID:988	mitral valve prolapse		ISO	RGD:1345622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:0111926	spermatogenic failure 39		ISO	RGD:1345551	D	RGD:7240710	20191030	OMIM			
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:0111926	spermatogenic failure 39		ISO	RGD:1345551	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DNAH17-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 39 | ClinVar Annotator: match by term: Spermatogenic failure 39 | ClinVar Annotator: match by term: spermatogenic failure 39	PMID:24033266|PMID:25741868|PMID:28492532
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:0111926	spermatogenic failure 39		ISS	RGD:1557330	D	RGD:13592920	20230718	MouseDO		OMIM:618643	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:10534	stomach cancer		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:1115	sarcoma		ISO	RGD:1345551	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:1324	lung cancer		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:1909	melanoma		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:3275	thymoma		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:4362	cervical cancer		ISO	RGD:1345551	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1345551	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:630	genetic disease		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:9007661	Dwarfism		ISO	RGD:1345551	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563805	Dnah17	dynein, axonemal, heavy chain 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:10907	microcephaly		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:1115	sarcoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:1324	lung cancer		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:1909	melanoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:3275	thymoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1346289	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:8488	polyhydramnios		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563807	Supt5h	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563823	Ehbp1l1	EH domain binding protein 1-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563823	Ehbp1l1	EH domain binding protein 1-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563823	Ehbp1l1	EH domain binding protein 1-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563823	Ehbp1l1	EH domain binding protein 1-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563823	Ehbp1l1	EH domain binding protein 1-like 1	gene	DOID:3275	thymoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563823	Ehbp1l1	EH domain binding protein 1-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563823	Ehbp1l1	EH domain binding protein 1-like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563823	Ehbp1l1	EH domain binding protein 1-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563823	Ehbp1l1	EH domain binding protein 1-like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1563823	Ehbp1l1	EH domain binding protein 1-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563823	Ehbp1l1	EH domain binding protein 1-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563823	Ehbp1l1	EH domain binding protein 1-like 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1342687	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:25741868|PMID:34645488
1563823	Ehbp1l1	EH domain binding protein 1-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563837	C18h18orf54	similar to human chromosome 18 open reading frame 54	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348374	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563837	C18h18orf54	similar to human chromosome 18 open reading frame 54	gene	DOID:1115	sarcoma		ISO	RGD:1348374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563837	C18h18orf54	similar to human chromosome 18 open reading frame 54	gene	DOID:1324	lung cancer		ISO	RGD:1348374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563837	C18h18orf54	similar to human chromosome 18 open reading frame 54	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563837	C18h18orf54	similar to human chromosome 18 open reading frame 54	gene	DOID:4362	cervical cancer		ISO	RGD:1348374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563837	C18h18orf54	similar to human chromosome 18 open reading frame 54	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563837	C18h18orf54	similar to human chromosome 18 open reading frame 54	gene	DOID:5041	esophageal cancer		ISO	RGD:1348374	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563837	C18h18orf54	similar to human chromosome 18 open reading frame 54	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563837	C18h18orf54	similar to human chromosome 18 open reading frame 54	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563839	Fastkd5	FAST kinase domains 5	gene	DOID:5419	schizophrenia		ISO	RGD:1602469	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1557574	D	RGD:7495791|PMID:23619365	20131213	RGD		mRNA:decreased expression:heart left ventricle	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1348457	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:1561	cognitive disorder	treatment	IEP		D	RGD:7495794|PMID:22277195	20131213	RGD			
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:1580	diffuse scleroderma	susceptibility	ISO	RGD:1348457	D	RGD:7495782|PMID:21898345	20131212	RGD		DNA:missense mutation:cds:p.F196S (rs1059702) (human)	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:1749	squamous cell carcinoma	disease_progression	ISO	RGD:1348457	D	RGD:7495785|PMID:24302991	20131212	RGD			
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:2316	brain ischemia		IEP		D	RGD:7495802|PMID:21925238	20131213	RGD		mRNA, protein:increased expression:cerebral cortex	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:2841	asthma		ISO	RGD:1348457	D	RGD:632518354|PMID:19968634	20260205	RGD		DNA:SNP: :rs1059701	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1348457	D	RGD:11099044|PMID:26043172	20260106	RGD		DNA: SNP: :rs3027898	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:2957	pulmonary tuberculosis	sexual_dimorphism	ISO	RGD:1348457	D	RGD:11099044|PMID:26043172	20260106	RGD		DNA: SNP: :rs3027898	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:2957	pulmonary tuberculosis	sexual_dimorphism	ISO	RGD:1605396, RGD:1352959	D	RGD:9068941	20260108	RGD		DNA: SNP: :rs3027898	PMID:26043172|REF_RGD_ID:11099044
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1348457	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20524934
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:674	cleft palate		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:7147	ankylosing spondylitis	susceptibility	ISO	RGD:1348457	D	RGD:7495783|PMID:20500689	20131212	RGD		DNA:SNP:enhancer: (rs3027898) (human)	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1348457	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:820	myocarditis		ISO	RGD:1557574	D	RGD:1582271|PMID:12860565	20061103	RGD			
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:8893	psoriasis		ISO	RGD:1348457	D	RGD:7495784|PMID:23018031	20131212	RGD			
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:9000892	Fetal Distress		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal distress	PMID:25741868
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:1348457	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21925238
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:9003909	Immunodeficiency 67		ISO	RGD:1348457	D	RGD:11251272|PMID:26075815	20260130	RGD		associated with Systemic Inflammatory Response Syndrome;DNA:SNP: :rs1059701	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:9005091	Lentivirus Infections		ISO	RGD:1348457	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:26937033
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1348457	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:9007838	Myocardial Reperfusion Injury		IEP		D	RGD:1579809|PMID:15793310	20110310	RGD		protein:increased activity:ventricle myocardium (rat)	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:9008	psoriatic arthritis	susceptibility	ISO	RGD:1348457	D	RGD:7495783|PMID:20500689	20131212	RGD		DNA:SNP:enhancer: (rs3027898) (human)	
1563841	Irak1	interleukin-1 receptor-associated kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563842	M1ap	meiosis 1 associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563842	M1ap	meiosis 1 associated protein	gene	DOID:0060058	lymphoma		ISO	RGD:1604532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1563842	M1ap	meiosis 1 associated protein	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1604532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
1563842	M1ap	meiosis 1 associated protein	gene	DOID:0112176	spermatogenic failure 48		ISO	RGD:1604532	D	RGD:7240710	20201209	OMIM			
1563842	M1ap	meiosis 1 associated protein	gene	DOID:0112176	spermatogenic failure 48		ISO	RGD:1604532	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: M1AP-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 48 | ClinVar Annotator: match by term: Spermatogenic failure 48 | ClinVar Annotator: match by term: spermatogenic failure 48	PMID:25741868|PMID:32017041|PMID:32673564
1563842	M1ap	meiosis 1 associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1604532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563842	M1ap	meiosis 1 associated protein	gene	DOID:12336	male infertility		ISO	RGD:1604532	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868
1563842	M1ap	meiosis 1 associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563842	M1ap	meiosis 1 associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563842	M1ap	meiosis 1 associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563853	Cul4a	cullin 4A	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1351332	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
1563853	Cul4a	cullin 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563853	Cul4a	cullin 4A	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1351332	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1563853	Cul4a	cullin 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563853	Cul4a	cullin 4A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563853	Cul4a	cullin 4A	gene	DOID:1115	sarcoma		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563853	Cul4a	cullin 4A	gene	DOID:1324	lung cancer		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563853	Cul4a	cullin 4A	gene	DOID:1909	melanoma		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563853	Cul4a	cullin 4A	gene	DOID:4362	cervical cancer		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563853	Cul4a	cullin 4A	gene	DOID:5041	esophageal cancer		ISO	RGD:1351332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563853	Cul4a	cullin 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563853	Cul4a	cullin 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563855	Hccs	holocytochrome c synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563855	Hccs	holocytochrome c synthase	gene	DOID:0080600	COVID-19		ISO	RGD:1352684	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1563855	Hccs	holocytochrome c synthase	gene	DOID:0080636	syndromic microphthalmia		ISO	RGD:1352684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic microphthalmia	PMID:31690835
1563855	Hccs	holocytochrome c synthase	gene	DOID:0111808	linear skin defects with multiple congenital anomalies 1		ISO	RGD:1352684	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563855	Hccs	holocytochrome c synthase	gene	DOID:0111808	linear skin defects with multiple congenital anomalies 1		ISO	RGD:1352684	D	RGD:7240710	20130221	OMIM			
1563855	Hccs	holocytochrome c synthase	gene	DOID:0111808	linear skin defects with multiple congenital anomalies 1		ISO	RGD:1352684	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HCCS-related condition | ClinVar Annotator: match by term: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1	PMID:17033964|PMID:17893649|PMID:23596069|PMID:25054239|PMID:25741868|PMID:28492532
1563855	Hccs	holocytochrome c synthase	gene	DOID:10629	microphthalmia		ISO	RGD:1352684	D	RGD:1600417|PMID:17033964	20070308	RGD		microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C	
1563855	Hccs	holocytochrome c synthase	gene	DOID:10629	microphthalmia		ISS	RGD:1558032	D	RGD:13592920	20180518	MouseDO		OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972	
1563855	Hccs	holocytochrome c synthase	gene	DOID:4362	cervical cancer		ISO	RGD:1352684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563855	Hccs	holocytochrome c synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:1352684	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563855	Hccs	holocytochrome c synthase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563855	Hccs	holocytochrome c synthase	gene	DOID:630	genetic disease		ISO	RGD:1352684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1563855	Hccs	holocytochrome c synthase	gene	DOID:9001946	Skin Abnormalities		ISO	RGD:1352684	D	RGD:1600417|PMID:17033964	20070308	RGD		microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C	
1563855	Hccs	holocytochrome c synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563855	Hccs	holocytochrome c synthase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563856	Nphp3	nephrocystin 3	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1342817	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:18371931|PMID:19303681|PMID:23559409|PMID:25741868|PMID:26184788|PMID:28492532|PMID:28921755|PMID:32040628|PMID:32173348|PMID:33323469|PMID:34031707
1563856	Nphp3	nephrocystin 3	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1342817	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	
1563856	Nphp3	nephrocystin 3	gene	DOID:0070121	Meckel syndrome 7		ISO	RGD:1342817	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563856	Nphp3	nephrocystin 3	gene	DOID:0070121	Meckel syndrome 7		ISO	RGD:1342817	D	RGD:7240710	20130221	OMIM			
1563856	Nphp3	nephrocystin 3	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1342817	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12089381
1563856	Nphp3	nephrocystin 3	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1342817	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28973083|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098
1563856	Nphp3	nephrocystin 3	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1342817	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098
1563856	Nphp3	nephrocystin 3	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1342817	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098
1563856	Nphp3	nephrocystin 3	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1342817	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:30586318|PMID:31131822|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:34212438|PMID:9536098
1563856	Nphp3	nephrocystin 3	gene	DOID:0111114	nephronophthisis 3		ISO	RGD:1342817	D	RGD:11071511|PMID:12872122	20160929	RGD		DNA:mutations:exon, intron:multiple	
1563856	Nphp3	nephrocystin 3	gene	DOID:0111114	nephronophthisis 3		ISO	RGD:1342817	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563856	Nphp3	nephrocystin 3	gene	DOID:0111114	nephronophthisis 3		ISO	RGD:1342817	D	RGD:7240710	20130221	OMIM			
1563856	Nphp3	nephrocystin 3	gene	DOID:0111114	nephronophthisis 3		ISS	RGD:1556941	D	RGD:13592920	20230718	MouseDO		OMIM:604387	
1563856	Nphp3	nephrocystin 3	gene	DOID:10763	hypertension		ISO	RGD:1342817	D	RGD:155791686|PMID:19177160	20230106	RGD		associated with nephronophthisis;	
1563856	Nphp3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:11065524|PMID:17855640	20160929	RGD		DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple	
1563856	Nphp3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23686967|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28973083|PMID:28991257|PMID:29801666|PMID:30002499|PMID:33532864|PMID:9536098
1563856	Nphp3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098
1563856	Nphp3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098
1563856	Nphp3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:9536098
1563856	Nphp3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:9536098
1563856	Nphp3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23686967|PMID:24033266|PMID:24776604|PMID:25356970|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27491411|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:29801666|PMID:30002499|PMID:30586318|PMID:31131822|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32502767|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34013113|PMID:34031707|PMID:34212438|PMID:9536098
1563856	Nphp3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23686967|PMID:24033266|PMID:24776604|PMID:25356970|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27491411|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:29801666|PMID:30002499|PMID:30586318|PMID:31131822|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32502767|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34013113|PMID:34031707|PMID:34212438|PMID:34426522|PMID:9536098
1563856	Nphp3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:12872122|PMID:18371931|PMID:21866095|PMID:23559409|PMID:26184788|PMID:28492532|PMID:31131822|PMID:34031707
1563856	Nphp3	nephrocystin 3	gene	DOID:2975	cystic kidney disease		ISO	RGD:1556941	D	RGD:11352488|PMID:18371931	20160928	RGD		DNA:missense mutation: :p.I614S (mouse)	
1563856	Nphp3	nephrocystin 3	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1556941	D	RGD:11352488|PMID:18371931	20160928	RGD			
1563856	Nphp3	nephrocystin 3	gene	DOID:898	autosomal dominant polycystic kidney disease		ISS	RGD:1556941	D	RGD:13592920	20180518	MouseDO			
1563856	Nphp3	nephrocystin 3	gene	DOID:9001991	Renal-Hepatic-Pancreatic Dysplasia 1		ISO	RGD:1342817	D	RGD:7240710	20130221	OMIM			
1563856	Nphp3	nephrocystin 3	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1342817	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12089381
1563856	Nphp3	nephrocystin 3	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1342817	D	RGD:11352488|PMID:18371931	20160928	RGD		DNA:missense mutation, nonsense mutations, splice-site mutations:multiple	
1563858	Hesx1	HESX homeobox 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:1353119	D	RGD:1601424|PMID:9620767	20070419	RGD		DNA:transition:CDS:p.R160C (478C>T) human	
1563858	Hesx1	HESX homeobox 1	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:1353119	D	RGD:7240710	20200115	OMIM			
1563858	Hesx1	HESX homeobox 1	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:1353119	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: De morsier syndrome | ClinVar Annotator: match by term: HESX1-related condition | ClinVar Annotator: match by term: SEPTOOPTIC DYSPLASIA | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | ClinVar Annotator: match by term: Septooptic dysplasia	PMID:11136712|PMID:18852528|PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:25741868|PMID:26873401|PMID:27000987|PMID:2700987|PMID:27828722|PMID:28396770|PMID:28492532|PMID:30266296|PMID:30487145|PMID:31022718|PMID:31395954|PMID:32483926|PMID:33098107|PMID:33451138|PMID:36531499|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:0060857	septooptic dysplasia		ISS	RGD:1558586	D	RGD:13592920	20230718	MouseDO		OMIM:182230	
1563858	Hesx1	HESX homeobox 1	gene	DOID:0061019	combined or isolated pituitary hormone deficiency 1		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1	PMID:28492532
1563858	Hesx1	HESX homeobox 1	gene	DOID:10907	microcephaly		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:11162	respiratory failure		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:12849	autistic disorder		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1563858	Hesx1	HESX homeobox 1	gene	DOID:1826	epilepsy		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1563858	Hesx1	HESX homeobox 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:1923	disorder of sexual development		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563858	Hesx1	HESX homeobox 1	gene	DOID:255	hemangioma		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563858	Hesx1	HESX homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1353119	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11136712|PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:32483926|PMID:33098107|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:9002446	Combined Pituitary Hormone Deficiency 5		ISO	RGD:1353119	D	RGD:11554173	20200121	CTD		CTD Direct Evidence: marker/mechanism	
1563858	Hesx1	HESX homeobox 1	gene	DOID:9002446	Combined Pituitary Hormone Deficiency 5		ISO	RGD:1353119	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES | ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies | ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED, 5	PMID:11136712|PMID:11748154|PMID:16199547|PMID:16940453|PMID:17148560|PMID:17315526|PMID:17576681|PMID:18852528|PMID:19093031|PMID:21270112|PMID:22145475|PMID:23465708|PMID:25500790|PMID:25741868|PMID:25910213|PMID:26873401|PMID:27000987|PMID:2700987|PMID:27013732|PMID:27343026|PMID:27828722|PMID:28396770|PMID:28492532|PMID:30266296|PMID:30487145|PMID:30888394|PMID:31022718|PMID:31395954|PMID:32483926|PMID:33098107|PMID:33451138|PMID:36531499|PMID:39039281|PMID:9536098|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:9002802	Acidoses		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acidosis	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:9004507	Hirsutism		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:9006024	Hypotension		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotension	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563858	Hesx1	HESX homeobox 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10599689|PMID:11136712|PMID:11748154|PMID:17148560|PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:25741868|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:34906519|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1563858	Hesx1	HESX homeobox 1	gene	DOID:9406	hypopituitarism		ISO	RGD:1353119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypopituitarism | ClinVar Annotator: match by term: Pituitary hormone deficiency	PMID:11748154|PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:25741868|PMID:25910213|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:33098107|PMID:9620767
1563858	Hesx1	HESX homeobox 1	gene	DOID:9406	hypopituitarism		ISS	RGD:1558586	D	RGD:13592920	20180518	MouseDO		OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986	
1563858	Hesx1	HESX homeobox 1	gene	DOID:9410	combined pituitary hormone deficiency		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Panhypopituitarism	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:10094187|PMID:11180593|PMID:16879200|PMID:25741868|PMID:28492532
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:10094187|PMID:11180593|PMID:16879200|PMID:25741868|PMID:28492532
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:0060249	scoliosis		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:0060260	ptosis		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:0080006	bone development disease		ISO	RGD:1354498	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8955270
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:0112019	non-syndromic X-linked intellectual disability 19		ISO	RGD:1354498	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:0112019	non-syndromic X-linked intellectual disability 19		ISO	RGD:1354498	D	RGD:7240710	20141015	OMIM			
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:0112019	non-syndromic X-linked intellectual disability 19		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19	PMID:11180593|PMID:15668050|PMID:16199547|PMID:16879200|PMID:19888300|PMID:25741868|PMID:26043507|PMID:28492532|PMID:29304373|PMID:31130284|PMID:31474762|PMID:32371413|PMID:36875494|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:10534	stomach cancer		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:10579	leukodystrophy		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:16879200|PMID:19888300|PMID:25741868|PMID:28492532|PMID:29304373|PMID:31130284|PMID:32371413|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:1059	intellectual disability		ISO	RGD:1354498	D	RGD:1601643|PMID:8955270	20070426	RGD		Coffin-Lowry syndrome,OMIM:303600;DNA:deletion, DNA:point mutations	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:1059	intellectual disability		ISO	RGD:1354498	D	RGD:1601644|PMID:10319851	20070426	RGD		X-linked mental retardation,non-specific;DNA:point mutation:exon:R383W	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:1059	intellectual disability		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:10094187|PMID:11180593|PMID:16879200|PMID:25741868|PMID:28492532
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:1059	intellectual disability		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:10094187|PMID:11180593|PMID:16199547|PMID:16879200|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:10907	microcephaly		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16199547|PMID:16879200|PMID:19888300|PMID:25741868|PMID:28492532|PMID:29304373|PMID:31130284|PMID:31474762|PMID:32371413|PMID:36875494|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:10094187|PMID:11180593|PMID:16879200|PMID:25741868|PMID:28492532
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:1115	sarcoma		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:11383	cryptorchidism		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:10094187|PMID:11180593|PMID:16879200|PMID:25741868|PMID:28492532
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:12849	autistic disorder		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:1307	dementia		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:1324	lung cancer		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:1459	hypothyroidism		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:1588	thrombocytopenia		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:1657	ventricular septal defect		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:1826	epilepsy		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:1909	melanoma		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:2340	craniosynostosis		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:16199547|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:2468	psychotic disorder		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:3783	Coffin-Lowry syndrome		ISO	RGD:1354498	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8955270|PMID:21488662
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:3783	Coffin-Lowry syndrome		ISO	RGD:1354498	D	RGD:7240710	20130221	OMIM			
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:3783	Coffin-Lowry syndrome		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COFFIN-LOWRY SYNDROME | ClinVar Annotator: match by term: Coffin Lowry Syndrome | ClinVar Annotator: match by term: Coffin-Lowry syndrome | ClinVar Annotator: match by term: Mental retardation with osteocartilaginous abnormalities | ClinVar Annotator: match by term: RPS6KA3-related condition	PMID:10094187|PMID:10528858|PMID:11180593|PMID:11992250|PMID:15668050|PMID:16199547|PMID:16306095|PMID:16879200|PMID:17100996|PMID:17576681|PMID:1956325|PMID:19888300|PMID:25741868|PMID:26043507|PMID:26232052|PMID:28492532|PMID:29304373|PMID:30740391|PMID:31130284|PMID:31319225|PMID:31474762|PMID:32371413|PMID:32858545|PMID:35038833|PMID:36875494|PMID:37804371|PMID:38177409|PMID:9536098|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:3783	Coffin-Lowry syndrome		ISS	RGD:1558377	D	RGD:13592920	20230718	MouseDO		OMIM:303600	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:4362	cervical cancer		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:4667	kyphosis		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:535	sleep disorder		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:5419	schizophrenia		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:630	genetic disease		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10094187|PMID:11180593|PMID:11992250|PMID:16879200|PMID:25741868|PMID:28492532|PMID:8955270|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354498	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561517
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:7166	thyroiditis		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroiditis	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:8927	learning disability		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:8986	narcolepsy		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Narcolepsy	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:11992250|PMID:16879200|PMID:26633542|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9000641	Pain		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9000734	Oligomenorrhea		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligomenorrhea	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1354498	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21488662
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9001510	Funnel Chest		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:10094187|PMID:11180593|PMID:16879200|PMID:25741868|PMID:28492532
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9002695	Cataplexy		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataplexy	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:10094187|PMID:11180593|PMID:16199547|PMID:16879200|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9003507	Premature Birth		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:11180593|PMID:19888300|PMID:28492532|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9003760	Myalgia		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9004507	Hirsutism		ISO	RGD:1354498	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28492532
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1354498	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21488662
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9004595	Diastema		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diastema	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:16199547|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9005077	Joint Instability		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:16879200|PMID:19888300|PMID:25741868|PMID:28492532|PMID:29304373|PMID:31130284|PMID:32371413|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10094187|PMID:11180593|PMID:16879200|PMID:25741868|PMID:28492532
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10094187|PMID:11180593|PMID:16199547|PMID:16879200|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9005616	Micrognathism		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:16199547|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:10094187|PMID:11180593|PMID:15668050|PMID:16879200|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31164752|PMID:32858545|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9007573	Flatfoot		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9007661	Dwarfism		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Febrile seizures	PMID:25741868
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11180593|PMID:16879200|PMID:19888300|PMID:22187936|PMID:25644381|PMID:25741868|PMID:28492532|PMID:29304373|PMID:31130284|PMID:32371413|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:11180593|PMID:16199547|PMID:16879200|PMID:19888300|PMID:22187936|PMID:25644381|PMID:25741868|PMID:28492532|PMID:29304373|PMID:31130284|PMID:31474762|PMID:32371413|PMID:36875494|PMID:9837815
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9008514	Psychomotor Disorders		ISO	RGD:1354498	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8955270
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563860	Rps6ka3	ribosomal protein S6 kinase A3	gene	DOID:988	mitral valve prolapse		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:25741868
1563863	Dnaaf10	dynein axonemal assembly factor 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563863	Dnaaf10	dynein axonemal assembly factor 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563863	Dnaaf10	dynein axonemal assembly factor 10	gene	DOID:10534	stomach cancer		ISO	RGD:1605887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563863	Dnaaf10	dynein axonemal assembly factor 10	gene	DOID:1324	lung cancer		ISO	RGD:1605887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563863	Dnaaf10	dynein axonemal assembly factor 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563863	Dnaaf10	dynein axonemal assembly factor 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1605887	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563863	Dnaaf10	dynein axonemal assembly factor 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563863	Dnaaf10	dynein axonemal assembly factor 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563863	Dnaaf10	dynein axonemal assembly factor 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563863	Dnaaf10	dynein axonemal assembly factor 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563863	Dnaaf10	dynein axonemal assembly factor 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563863	Dnaaf10	dynein axonemal assembly factor 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1346534	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22050706
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:0111145	ureteropelvic junction obstruction		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ureteropelvic junction obstruction	PMID:22050706|PMID:25741868
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:0111837	congenital nongoitrous hypothyroidism 8		ISO	RGD:1346534	D	RGD:7240710	20191009	OMIM			
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:0111837	congenital nongoitrous hypothyroidism 8		ISO	RGD:1346534	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 8 | ClinVar Annotator: match by term: TBL1X-related condition	PMID:25741868|PMID:27603907|PMID:28492532|PMID:30591955
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:1115	sarcoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:12849	autistic disorder		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:22050706|PMID:25741868
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:3275	thymoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:4362	cervical cancer		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:5041	esophageal cancer		ISO	RGD:1346534	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:6039	uveal melanoma		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:630	genetic disease		ISO	RGD:1346534	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:9003816	Macrocephaly		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:22050706|PMID:25741868
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22050706|PMID:25741868
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563868	Tbl1x	transducin (beta)-like 1 X-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563869	Zfp704	zinc finger protein 704	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563869	Zfp704	zinc finger protein 704	gene	DOID:4362	cervical cancer		ISO	RGD:1605749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563869	Zfp704	zinc finger protein 704	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563870	Iqank1	IQ motif and ankyrin repeat containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:12789538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563870	Iqank1	IQ motif and ankyrin repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:12789538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563870	Iqank1	IQ motif and ankyrin repeat containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:12789538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563873	Dcaf12l1	DDB1 and CUL4 associated factor 12-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563873	Dcaf12l1	DDB1 and CUL4 associated factor 12-like 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1347831	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
1563873	Dcaf12l1	DDB1 and CUL4 associated factor 12-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563873	Dcaf12l1	DDB1 and CUL4 associated factor 12-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563876	Tc2n	tandem C2 domains, nuclear	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563876	Tc2n	tandem C2 domains, nuclear	gene	DOID:10534	stomach cancer		ISO	RGD:1349748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
1563876	Tc2n	tandem C2 domains, nuclear	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563876	Tc2n	tandem C2 domains, nuclear	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563876	Tc2n	tandem C2 domains, nuclear	gene	DOID:3275	thymoma		ISO	RGD:1349748	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563876	Tc2n	tandem C2 domains, nuclear	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563876	Tc2n	tandem C2 domains, nuclear	gene	DOID:5041	esophageal cancer		ISO	RGD:1349748	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563876	Tc2n	tandem C2 domains, nuclear	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563876	Tc2n	tandem C2 domains, nuclear	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563876	Tc2n	tandem C2 domains, nuclear	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563876	Tc2n	tandem C2 domains, nuclear	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563885	Borcs6	BLOC-1 related complex subunit 6	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1603302	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
1563886	Majin	membrane anchored junction protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563886	Majin	membrane anchored junction protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563886	Majin	membrane anchored junction protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604186	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563888	C11h21orf91	similar to human chromosome 21 open reading frame 91	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563888	C11h21orf91	similar to human chromosome 21 open reading frame 91	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563888	C11h21orf91	similar to human chromosome 21 open reading frame 91	gene	DOID:1115	sarcoma		ISO	RGD:1352771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563888	C11h21orf91	similar to human chromosome 21 open reading frame 91	gene	DOID:1909	melanoma		ISO	RGD:1352771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563888	C11h21orf91	similar to human chromosome 21 open reading frame 91	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563888	C11h21orf91	similar to human chromosome 21 open reading frame 91	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563889	Fbxw10	F-box and WD repeat domain containing 10	gene	DOID:3275	thymoma		ISO	RGD:1344414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563889	Fbxw10	F-box and WD repeat domain containing 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563889	Fbxw10	F-box and WD repeat domain containing 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563889	Fbxw10	F-box and WD repeat domain containing 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563889	Fbxw10	F-box and WD repeat domain containing 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563892	Dact3	dishevelled-binding antagonist of beta-catenin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563892	Dact3	dishevelled-binding antagonist of beta-catenin 3	gene	DOID:1059	intellectual disability		ISO	RGD:1601931	D	RGD:8554872	20190312	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1563892	Dact3	dishevelled-binding antagonist of beta-catenin 3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1601931	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1563901	Col20a1	collagen type XX alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563901	Col20a1	collagen type XX alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1602872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563901	Col20a1	collagen type XX alpha 1 chain	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1602872	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
1563901	Col20a1	collagen type XX alpha 1 chain	gene	DOID:3070	high grade glioma		ISO	RGD:1602872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563901	Col20a1	collagen type XX alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1602872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563901	Col20a1	collagen type XX alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563901	Col20a1	collagen type XX alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0050603	acheiropody		ISO	RGD:1352056	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0050603	acheiropody		ISO	RGD:1352056	D	RGD:7240710	20130221	OMIM			
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0050603	acheiropody		ISO	RGD:1352056	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACHEIROPODY | ClinVar Annotator: match by term: Acheiropodia | ClinVar Annotator: match by term: Acheiropody | ClinVar Annotator: match by term: Acheiropody, Brazilian type	PMID:25741868
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0050603	acheiropody		ISS	RGD:1616805	D	RGD:13592920	20230718	MouseDO		OMIM:200500	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0060986	preaxial polydactyly II		ISO	RGD:1352056	D	RGD:7240710	20250730	OMIM			
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0060986	preaxial polydactyly II		ISO	RGD:1352056	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POLYDACTYLY, PREAXIAL II | ClinVar Annotator: match by term: Polydactyly of a triphalangeal thumb | ClinVar Annotator: match by term: TPT-PS SYNDROME	PMID:10937618|PMID:17152067|PMID:25741868|PMID:28492532
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0111350	Laurin-Sandrow syndrome		ISO	RGD:1352056	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0111350	Laurin-Sandrow syndrome		ISO	RGD:1352056	D	RGD:7240710	20141112	OMIM			
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0111350	Laurin-Sandrow syndrome		ISO	RGD:1352056	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LAURIN-SANDROW SYNDROME | ClinVar Annotator: match by term: TETRAMELIC MIRROR-IMAGE POLYDACTYLY | ClinVar Annotator: match by term: Tetramelic mirror-image polydactyly	PMID:25741868
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0111564	hypoplastic or aplastic tibia with polydactyly		ISO	RGD:1352056	D	RGD:7240710	20250730	OMIM			
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0111564	hypoplastic or aplastic tibia with polydactyly		ISO	RGD:1352056	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY | ClinVar Annotator: match by term: Tibia, hypoplasia or aplasia of, with polydactyly	PMID:25741868
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0111818	syndactyly type 4		ISO	RGD:1352056	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0111818	syndactyly type 4		ISO	RGD:1352056	D	RGD:7240710	20130221	OMIM			
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:0111818	syndactyly type 4		ISO	RGD:1352056	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polysyndactyly type Haas | ClinVar Annotator: match by term: SYNDACTYLY, TYPE IV	PMID:25741868
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1352056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352056	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1352056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:630	genetic disease		ISO	RGD:1352056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:9001425	Triphalangeal Thumb		ISO	RGD:1352056	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TRIPHALANGEAL THUMB	PMID:11090342|PMID:11606546|PMID:18463159|PMID:24777739|PMID:25741868|PMID:28492532|PMID:29651423|PMID:31395945
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:9003769	Patterson Stevenson Syndrome		ISO	RGD:1352056	D	RGD:7240710	20221102	OMIM			
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:9003769	Patterson Stevenson Syndrome		ISO	RGD:1352056	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome	PMID:25741868
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:9005004	Musculoskeletal Abnormalities		ISO	RGD:1555907	D	RGD:1600688|PMID:11090342	20070322	RGD		DNA:deletion:exon; Acheiropody, OMIM:200500	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563910	Lmbr1	limb development membrane protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563912	Snhg11	small nucleolar RNA host gene 11	gene	DOID:1115	sarcoma		ISO	RGD:1601936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563912	Snhg11	small nucleolar RNA host gene 11	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1601936	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:17114358
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1603597	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868|PMID:32820033
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:0112276	neurodevelopmental disorder with involuntary movements		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with involuntary movements	PMID:25741868
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:32820033
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:10907	microcephaly		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:32820033
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:32820033
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:535	sleep disorder		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:32820033
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:32820033
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603597	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:32820033
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:9005399	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES		ISO	RGD:1603597	D	RGD:7240710	20220316	OMIM			
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:9005399	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES		ISO	RGD:1603597	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Developmental delay with variable neurologic and brain abnormalities | ClinVar Annotator: match by term: LMBRD2-related condition | ClinVar Annotator: match by term: LMBRD2-related disorder	PMID:25741868|PMID:32820033
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:32820033
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:9005841	Epidermal Cyst		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermoid cysts	PMID:25741868|PMID:32820033
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:32820033
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:32820033
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603597	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:32820033
1563920	Lmbrd2	LMBR1 domain containing 2	gene	DOID:9884	muscular dystrophy		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868|PMID:32820033
1563924	Cdc42se2	CDC42 small effector 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563924	Cdc42se2	CDC42 small effector 2	gene	DOID:1909	melanoma		ISO	RGD:1343863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563924	Cdc42se2	CDC42 small effector 2	gene	DOID:3070	high grade glioma		ISO	RGD:1343863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563924	Cdc42se2	CDC42 small effector 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563924	Cdc42se2	CDC42 small effector 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1563929	Nobox	NOBOX oogenesis homeobox	gene	DOID:0080862	primary ovarian insufficiency 5		ISO	RGD:1604996	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563929	Nobox	NOBOX oogenesis homeobox	gene	DOID:0080862	primary ovarian insufficiency 5		ISO	RGD:1604996	D	RGD:7240710	20130425	OMIM			
1563929	Nobox	NOBOX oogenesis homeobox	gene	DOID:0080862	primary ovarian insufficiency 5		ISO	RGD:1604996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NOBOX-related condition | ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 5 | ClinVar Annotator: match by term: Premature ovarian failure 5 | ClinVar Annotator: match by term: premature ovarian failure 5	PMID:17701902|PMID:18930203|PMID:21837770|PMID:25514101|PMID:25741868|PMID:27798098|PMID:27836978|PMID:28492532|PMID:29067606|PMID:31042289|PMID:33116287|PMID:39871066
1563929	Nobox	NOBOX oogenesis homeobox	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1604996	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:17701902
1563929	Nobox	NOBOX oogenesis homeobox	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1604996	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1563929	Nobox	NOBOX oogenesis homeobox	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1604996	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:17701902
1563929	Nobox	NOBOX oogenesis homeobox	gene	DOID:630	genetic disease		ISO	RGD:1604996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1563929	Nobox	NOBOX oogenesis homeobox	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604996	D	RGD:8554872	20171212	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1563935	Sh2d1b	SH2 domain containing 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563935	Sh2d1b	SH2 domain containing 1B	gene	DOID:1115	sarcoma		ISO	RGD:1606747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563935	Sh2d1b	SH2 domain containing 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563939	Fcrl6	Fc receptor-like 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563939	Fcrl6	Fc receptor-like 6	gene	DOID:0080600	COVID-19		ISO	RGD:1606397	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1563939	Fcrl6	Fc receptor-like 6	gene	DOID:1324	lung cancer		ISO	RGD:1606397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563939	Fcrl6	Fc receptor-like 6	gene	DOID:1909	melanoma		ISO	RGD:1606397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563939	Fcrl6	Fc receptor-like 6	gene	DOID:4362	cervical cancer		ISO	RGD:1606397	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563939	Fcrl6	Fc receptor-like 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563939	Fcrl6	Fc receptor-like 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1606397	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563939	Fcrl6	Fc receptor-like 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563939	Fcrl6	Fc receptor-like 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563939	Fcrl6	Fc receptor-like 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563940	Plekha8	pleckstrin homology domain containing A8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563940	Plekha8	pleckstrin homology domain containing A8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563940	Plekha8	pleckstrin homology domain containing A8	gene	DOID:10534	stomach cancer		ISO	RGD:1348276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563940	Plekha8	pleckstrin homology domain containing A8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563940	Plekha8	pleckstrin homology domain containing A8	gene	DOID:1115	sarcoma		ISO	RGD:1348276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563940	Plekha8	pleckstrin homology domain containing A8	gene	DOID:1324	lung cancer		ISO	RGD:1348276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563940	Plekha8	pleckstrin homology domain containing A8	gene	DOID:3275	thymoma		ISO	RGD:1348276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563940	Plekha8	pleckstrin homology domain containing A8	gene	DOID:4362	cervical cancer		ISO	RGD:1348276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563940	Plekha8	pleckstrin homology domain containing A8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563940	Plekha8	pleckstrin homology domain containing A8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
1563940	Plekha8	pleckstrin homology domain containing A8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563940	Plekha8	pleckstrin homology domain containing A8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563944	Nsg2	neuronal vesicle trafficking associated 2	gene	DOID:1324	lung cancer		ISO	RGD:1602121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563944	Nsg2	neuronal vesicle trafficking associated 2	gene	DOID:1909	melanoma		ISO	RGD:1602121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563944	Nsg2	neuronal vesicle trafficking associated 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563944	Nsg2	neuronal vesicle trafficking associated 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563946	Ano8	anoctamin 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563946	Ano8	anoctamin 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563946	Ano8	anoctamin 8	gene	DOID:10534	stomach cancer		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563946	Ano8	anoctamin 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563946	Ano8	anoctamin 8	gene	DOID:1115	sarcoma		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563946	Ano8	anoctamin 8	gene	DOID:3070	high grade glioma		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563946	Ano8	anoctamin 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563946	Ano8	anoctamin 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1349559	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563946	Ano8	anoctamin 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563946	Ano8	anoctamin 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563946	Ano8	anoctamin 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563952	Mospd2	motile sperm domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563952	Mospd2	motile sperm domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563952	Mospd2	motile sperm domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563952	Mospd2	motile sperm domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563952	Mospd2	motile sperm domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350806	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563952	Mospd2	motile sperm domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563952	Mospd2	motile sperm domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563952	Mospd2	motile sperm domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563954	Msh3	mutS homolog 3	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1353031	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1563954	Msh3	mutS homolog 3	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1353031	D	RGD:1625103|PMID:9401011	20070521	RGD			
1563954	Msh3	mutS homolog 3	gene	DOID:0080412	familial adenomatous polyposis 4		ISO	RGD:1353031	D	RGD:7240710	20190315	OMIM			
1563954	Msh3	mutS homolog 3	gene	DOID:0080412	familial adenomatous polyposis 4		ISO	RGD:1353031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FAMILIAL ADENOMATOUS POLYPOSIS 4 | ClinVar Annotator: match by term: Familial adenomatous polyposis 4 | ClinVar Annotator: match by term: MSH3-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: familial adenomatous polyposis 4	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20981092|PMID:23960188|PMID:25741868|PMID:26467025|PMID:27476653|PMID:28211887|PMID:28492532|PMID:28944238|PMID:29641532|PMID:30358836|PMID:31127692|PMID:31589614|PMID:32634176|PMID:33606809|PMID:34843512|PMID:35101336|PMID:37402566|PMID:38127826|PMID:38136308|PMID:38243056|PMID:38254797|PMID:40223084|PMID:9536098
1563954	Msh3	mutS homolog 3	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1353031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:25741868|PMID:28492532
1563954	Msh3	mutS homolog 3	gene	DOID:10534	stomach cancer		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563954	Msh3	mutS homolog 3	gene	DOID:1115	sarcoma		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563954	Msh3	mutS homolog 3	gene	DOID:11830	myopia		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:26467025|PMID:28492532
1563954	Msh3	mutS homolog 3	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532|PMID:28944238
1563954	Msh3	mutS homolog 3	gene	DOID:1324	lung cancer		ISO	RGD:1353031	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Lung cancer, somatic	PMID:28492532
1563954	Msh3	mutS homolog 3	gene	DOID:1380	endometrial cancer		ISO	RGD:1353031	D	RGD:7240710	20190213	OMIM			
1563954	Msh3	mutS homolog 3	gene	DOID:1380	endometrial cancer		ISO	RGD:1353031	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MSH3-related condition	PMID:11470537|PMID:20981092|PMID:25741868|PMID:26467025|PMID:27476653|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:31127692|PMID:32634176|PMID:33606809|PMID:34250384|PMID:34308104|PMID:34994648|PMID:35101336|PMID:37402566
1563954	Msh3	mutS homolog 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1353031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25741868|PMID:27476653|PMID:28492532|PMID:35101336|PMID:37402566
1563954	Msh3	mutS homolog 3	gene	DOID:1596	depressive disorder		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28944238
1563954	Msh3	mutS homolog 3	gene	DOID:2030	anxiety disorder		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28944238
1563954	Msh3	mutS homolog 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1563954	Msh3	mutS homolog 3	gene	DOID:2841	asthma		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532|PMID:28944238
1563954	Msh3	mutS homolog 3	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1353031	D	RGD:1600456|PMID:8782829	20070309	RGD			
1563954	Msh3	mutS homolog 3	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1353031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:11470537|PMID:16199547|PMID:20981092|PMID:25741868|PMID:26467025|PMID:27476653|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:30358836|PMID:31127692|PMID:31589614|PMID:32634176|PMID:33606809|PMID:34843512|PMID:35101336|PMID:37402566|PMID:38127826|PMID:38136308|PMID:38243056|PMID:38254797|PMID:40223084
1563954	Msh3	mutS homolog 3	gene	DOID:3275	thymoma		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563954	Msh3	mutS homolog 3	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1353031	D	RGD:126848786|PMID:28093084	20210430	RGD		DNA:SNPs: :rs6151627, rs6151670, rs7709909 (human)	
1563954	Msh3	mutS homolog 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1353031	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:21327329
1563954	Msh3	mutS homolog 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1563954	Msh3	mutS homolog 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1353031	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563954	Msh3	mutS homolog 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1563954	Msh3	mutS homolog 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563954	Msh3	mutS homolog 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563954	Msh3	mutS homolog 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353031	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer	PMID:28492532
1563954	Msh3	mutS homolog 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:25741868|PMID:28492532
1563954	Msh3	mutS homolog 3	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1353031	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25701956
1563954	Msh3	mutS homolog 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1353031	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18355840
1563954	Msh3	mutS homolog 3	gene	DOID:9003507	Premature Birth		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532|PMID:28944238
1563954	Msh3	mutS homolog 3	gene	DOID:9004351	Digestive System Neoplasms		ISO	RGD:1353031	D	RGD:1625103|PMID:9401011	20070521	RGD			
1563954	Msh3	mutS homolog 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1563954	Msh3	mutS homolog 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563954	Msh3	mutS homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353031	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30573798|PMID:30740464|PMID:31054147|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:32619037|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:8782829|PMID:8838312|PMID:9536098
1563954	Msh3	mutS homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353031	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:21153778|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28157215|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30358836|PMID:30573798|PMID:30719162|PMID:30740464|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:31911633|PMID:32008151|PMID:32091409|PMID:32365829|PMID:32619037|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:34994648|PMID:36419139|PMID:36652909|PMID:37402566|PMID:8782829|PMID:8838312|PMID:9536098
1563954	Msh3	mutS homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353031	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:21153778|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:25741909|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28157215|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30358836|PMID:30573798|PMID:30719162|PMID:30740464|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:31911633|PMID:32008151|PMID:32091409|PMID:32365829|PMID:32619037|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:34994648|PMID:36419139|PMID:36652909|PMID:37402566|PMID:8782829|PMID:8838312|PMID:9536098
1563954	Msh3	mutS homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353031	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:21153778|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28157215|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30358836|PMID:30573798|PMID:30719162|PMID:30740464|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:31911633|PMID:32008151|PMID:32091409|PMID:32365829|PMID:32619037|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:34994648|PMID:36419139|PMID:36652909|PMID:37402566|PMID:38136308|PMID:8782829|PMID:8838312|PMID:9536098
1563954	Msh3	mutS homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353031	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:21153778|PMID:21270786|PMID:22179786|PMID:23960188|PMID:24448499|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:27476653|PMID:27696107|PMID:27981572|PMID:28157215|PMID:28211887|PMID:28404951|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30358836|PMID:30573798|PMID:30719162|PMID:30740464|PMID:30833958|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31589614|PMID:31874108|PMID:31911633|PMID:32008151|PMID:32091409|PMID:32365829|PMID:32461694|PMID:32619037|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32636238|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33436027|PMID:33466343|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34608827|PMID:34767783|PMID:34843512|PMID:34994648|PMID:36419139|PMID:36563937|PMID:37095444|PMID:37402566|PMID:37453563|PMID:37762649|PMID:37895483|PMID:38127826|PMID:38136308|PMID:38254797|PMID:38751533|PMID:38770632|PMID:8782829|PMID:9536098
1563954	Msh3	mutS homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353031	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:21153778|PMID:21270786|PMID:22179786|PMID:23960188|PMID:24448499|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:27300758|PMID:27476653|PMID:27696107|PMID:27981572|PMID:28157215|PMID:28211887|PMID:28404951|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30358836|PMID:30573798|PMID:30719162|PMID:30740464|PMID:30833958|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31589614|PMID:31874108|PMID:31911633|PMID:32008151|PMID:32091409|PMID:32365829|PMID:32461694|PMID:32619037|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32636238|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33436027|PMID:33466343|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34608827|PMID:34767783|PMID:34843512|PMID:34994648|PMID:36419139|PMID:36563937|PMID:37095444|PMID:37402566|PMID:37453563|PMID:37762649|PMID:37895483|PMID:38127826|PMID:38136308|PMID:38254797|PMID:38751533|PMID:38770632|PMID:8782829|PMID:8838312|PMID:9536098
1563954	Msh3	mutS homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11470537|PMID:16199547|PMID:17576681|PMID:20981092|PMID:22179786|PMID:23960188|PMID:25741868|PMID:26467025|PMID:27476653|PMID:28211887|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:30358836|PMID:30573798|PMID:31127692|PMID:31589614|PMID:32634176|PMID:33606809|PMID:34767783|PMID:34843512|PMID:35101336|PMID:37402566|PMID:38127826|PMID:38136308|PMID:38243056|PMID:38254797|PMID:40223084|PMID:9536098
1563954	Msh3	mutS homolog 3	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1353031	D	RGD:11554173	20190219	CTD		CTD Direct Evidence: marker/mechanism	
1563954	Msh3	mutS homolog 3	gene	DOID:9008023	Memory Disorders		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532|PMID:28944238
1563954	Msh3	mutS homolog 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1563955	Prss56	serine protease 56	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563955	Prss56	serine protease 56	gene	DOID:0060835	isolated microphthalmia 6		ISO	RGD:5128927	D	RGD:7240710	20130221	OMIM			
1563955	Prss56	serine protease 56	gene	DOID:0060835	isolated microphthalmia 6		ISO	RGD:5128927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Isolated microphthalmia 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, ISOLATED 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC | ClinVar Annotator: match by term: Microphthalmia, isolated 6 | ClinVar Annotator: match by term: PRSS56-related condition	PMID:16199547|PMID:17576681|PMID:19526372|PMID:21397065|PMID:21532570|PMID:21670352|PMID:21850159|PMID:22908982|PMID:23127749|PMID:24033266|PMID:24227917|PMID:25587058|PMID:25741868|PMID:28492532|PMID:29450879|PMID:31266062|PMID:31992737|PMID:32052405|PMID:32830442|PMID:32996714|PMID:33203948|PMID:35610621|PMID:38749530|PMID:9536098
1563955	Prss56	serine protease 56	gene	DOID:0060835	isolated microphthalmia 6		ISS	RGD:1620006	D	RGD:13592920	20230718	MouseDO		OMIM:613517	
1563955	Prss56	serine protease 56	gene	DOID:0080634	nanophthalmos		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nanophthalmia	PMID:25741868
1563955	Prss56	serine protease 56	gene	DOID:0080634	nanophthalmos		ISS	RGD:1620006	D	RGD:13592920	20250605	MouseDO		OMIM:600165 | OMIM:609549 | OMIM:611897 | OMIM:615972	
1563955	Prss56	serine protease 56	gene	DOID:10629	microphthalmia		ISO	RGD:5128927	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532570
1563955	Prss56	serine protease 56	gene	DOID:11830	myopia		ISO	RGD:5128927	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23396134
1563955	Prss56	serine protease 56	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:5128927	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532570
1563955	Prss56	serine protease 56	gene	DOID:13550	angle-closure glaucoma		ISS	RGD:1620006	D	RGD:13592920	20250626	MouseDO			
1563955	Prss56	serine protease 56	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:5128927	D	RGD:152998978|PMID:31687280	20220714	RGD		mRNA:altered expression:liver (human)	
1563955	Prss56	serine protease 56	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563955	Prss56	serine protease 56	gene	DOID:630	genetic disease		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1563955	Prss56	serine protease 56	gene	DOID:9834	hyperopia		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1563959	Zfp706	zinc finger protein 706	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563959	Zfp706	zinc finger protein 706	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563959	Zfp706	zinc finger protein 706	gene	DOID:3275	thymoma		ISO	RGD:1602889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563959	Zfp706	zinc finger protein 706	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563959	Zfp706	zinc finger protein 706	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563959	Zfp706	zinc finger protein 706	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563968	Ndp	norrin cystine knot growth factor NDP	gene	DOID:0050535	exudative vitreoretinopathy		ISS	RGD:1558298	D	RGD:13592920	20180518	MouseDO		OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310	
1563968	Ndp	norrin cystine knot growth factor NDP	gene	DOID:0060844	Norrie disease		ISO	RGD:1343189	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1563968	Ndp	norrin cystine knot growth factor NDP	gene	DOID:0060844	Norrie disease		ISO	RGD:1343189	D	RGD:7240710	20130221	OMIM			
1563968	Ndp	norrin cystine knot growth factor NDP	gene	DOID:0060844	Norrie disease		ISO	RGD:1343189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrophia bulborum hereditaria	PMID:11748312|PMID:25741868
1563968	Ndp	norrin cystine knot growth factor NDP	gene	DOID:0060844	Norrie disease		ISS	RGD:1558298	D	RGD:13592920	20230718	MouseDO		OMIM:310600	
1563968	Ndp	norrin cystine knot growth factor NDP	gene	DOID:0111413	X-linked exudative vitreoretinopathy 2		ISO	RGD:1343189	D	RGD:7240710	20180214	OMIM			
1563968	Ndp	norrin cystine knot growth factor NDP	gene	DOID:0111413	X-linked exudative vitreoretinopathy 2		ISO	RGD:1343189	D	RGD:8694209|PMID:8252044	20140729	RGD		DNA:missense mutation: :p.L124F (human)	
1563968	Ndp	norrin cystine knot growth factor NDP	gene	DOID:13025	retinopathy of prematurity	severity	ISO	RGD:1343189	D	RGD:8694210|PMID:9152134	20140729	RGD		DNA:missense mutations:exon:p.R121W, p.L108P (human)	
1563968	Ndp	norrin cystine knot growth factor NDP	gene	DOID:3612	retinitis		ISO	RGD:1343189	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29654250
1563968	Ndp	norrin cystine knot growth factor NDP	gene	DOID:4449	macular retinal edema		ISO	RGD:1343189	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29654250
1563968	Ndp	norrin cystine knot growth factor NDP	gene	DOID:9002525	Hereditary Eye Diseases		ISO	RGD:1343189	D	RGD:1600222|PMID:1303235	20070305	RGD		Norrie Disease, OMIM:310600, DNA:point mutations:exon	
1563968	Ndp	norrin cystine knot growth factor NDP	gene	DOID:9002909	Oxygen-Induced Retinopathy	treatment	ISO	RGD:1558298	D	RGD:8694208|PMID:20053900	20140729	RGD			
1563968	Ndp	norrin cystine knot growth factor NDP	gene	DOID:9007748	Retinal Neovascularization		ISO	RGD:1343189	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29654250
1563968	Ndp	norrin cystine knot growth factor NDP	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21681106
1563973	Maneal	mannosidase, endo-alpha-like	gene	DOID:13533	osteopetrosis		ISO	RGD:1604520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopetrosis	
1563973	Maneal	mannosidase, endo-alpha-like	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1604520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	
1563973	Maneal	mannosidase, endo-alpha-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348118	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348118	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563977	Epb41l2	erythrocyte membrane protein band 4.1-like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563979	Prickle4	prickle planar cell polarity protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563979	Prickle4	prickle planar cell polarity protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563979	Prickle4	prickle planar cell polarity protein 4	gene	DOID:3275	thymoma		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563979	Prickle4	prickle planar cell polarity protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563979	Prickle4	prickle planar cell polarity protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563982	Fbxo27	F-box protein 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343305	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563982	Fbxo27	F-box protein 27	gene	DOID:10534	stomach cancer		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563982	Fbxo27	F-box protein 27	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563982	Fbxo27	F-box protein 27	gene	DOID:1115	sarcoma		ISO	RGD:1343305	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563982	Fbxo27	F-box protein 27	gene	DOID:3275	thymoma		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563982	Fbxo27	F-box protein 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563982	Fbxo27	F-box protein 27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1563982	Fbxo27	F-box protein 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563983	Ubl4a	ubiquitin-like 4A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563984	Hoxc13	homeobox C13	gene	DOID:0111656	ectodermal dysplasia 9		ISO	RGD:1349214	D	RGD:7240710	20140911	OMIM			
1563984	Hoxc13	homeobox C13	gene	DOID:0111656	ectodermal dysplasia 9		ISO	RGD:1349214	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia 9, hair/nail type	PMID:25741868
1563984	Hoxc13	homeobox C13	gene	DOID:9004934	BILATERAL CLEFT LIP		ISO	RGD:14101462	D	RGD:9068941	20231214	OMIA		Ectodermal dysplasia-9	PMID:28011715
1563985	Zpbp	zona pellucida binding protein	gene	DOID:0070565	spermatogenic failure 66		ISO	RGD:1351452	D	RGD:7240710	20220406	OMIM			
1563985	Zpbp	zona pellucida binding protein	gene	DOID:0070565	spermatogenic failure 66		ISO	RGD:1351452	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 66 | ClinVar Annotator: match by term: ZPBP-related condition | ClinVar Annotator: match by term: spermatogenic failure 66	PMID:25741868
1563985	Zpbp	zona pellucida binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1351452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563985	Zpbp	zona pellucida binding protein	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1351452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1563985	Zpbp	zona pellucida binding protein	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1351452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1563985	Zpbp	zona pellucida binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563986	Dennd11	DENN domain containing 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563986	Dennd11	DENN domain containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563986	Dennd11	DENN domain containing 11	gene	DOID:1909	melanoma		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563986	Dennd11	DENN domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563986	Dennd11	DENN domain containing 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563986	Dennd11	DENN domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563986	Dennd11	DENN domain containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563986	Dennd11	DENN domain containing 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563987	Abhd18	abhydrolase domain containing 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563987	Abhd18	abhydrolase domain containing 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563987	Abhd18	abhydrolase domain containing 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563987	Abhd18	abhydrolase domain containing 18	gene	DOID:1115	sarcoma		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563987	Abhd18	abhydrolase domain containing 18	gene	DOID:1909	melanoma		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563987	Abhd18	abhydrolase domain containing 18	gene	DOID:4362	cervical cancer		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563987	Abhd18	abhydrolase domain containing 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563987	Abhd18	abhydrolase domain containing 18	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1563987	Abhd18	abhydrolase domain containing 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563987	Abhd18	abhydrolase domain containing 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563987	Abhd18	abhydrolase domain containing 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563988	Morn2	MORN repeat containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2303892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563988	Morn2	MORN repeat containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:2303892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1563988	Morn2	MORN repeat containing 2	gene	DOID:3275	thymoma		ISO	RGD:2303892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1563988	Morn2	MORN repeat containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:2303892	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563988	Morn2	MORN repeat containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2303892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563988	Morn2	MORN repeat containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2303892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:0110194	Charcot-Marie-Tooth disease type 4B3		ISO	RGD:1347490	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3	PMID:23749797
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:10283	prostate cancer		ISO	RGD:1347490	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:10283	prostate cancer		ISO	RGD:1347490	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347490	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347490	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1563990	Ppp6r2	protein phosphatase 6, regulatory subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1563995	Gar1	GAR1 ribonucleoprotein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1563995	Gar1	GAR1 ribonucleoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1346713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1563995	Gar1	GAR1 ribonucleoprotein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1563995	Gar1	GAR1 ribonucleoprotein	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1346713	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22299032
1563995	Gar1	GAR1 ribonucleoprotein	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1346713	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1563995	Gar1	GAR1 ribonucleoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563995	Gar1	GAR1 ribonucleoprotein	gene	DOID:74	hematopoietic system disease		ISO	RGD:1346713	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22299032
1563995	Gar1	GAR1 ribonucleoprotein	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1346713	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1563996	Shisa8	shisa family member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1563998	Scube2	signal peptide, CUB domain and EGF like domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352842	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564004	Spin4	spindlin family, member 4	gene	DOID:9009359	Lui-Jee-Baron syndrome		ISO	RGD:1602297	D	RGD:7240710	20250730	OMIM			
1564005	Ankrd13b	ankyrin repeat domain 13B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564005	Ankrd13b	ankyrin repeat domain 13B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564005	Ankrd13b	ankyrin repeat domain 13B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564005	Ankrd13b	ankyrin repeat domain 13B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564005	Ankrd13b	ankyrin repeat domain 13B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564005	Ankrd13b	ankyrin repeat domain 13B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564007	Gramd2a	GRAM domain containing 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564007	Gramd2a	GRAM domain containing 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1605266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564007	Gramd2a	GRAM domain containing 2A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564007	Gramd2a	GRAM domain containing 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564008	Dact1	dishevelled-binding antagonist of beta-catenin 1	gene	DOID:0050887	Townes-Brocks syndrome		ISO	RGD:1348421	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1564008	Dact1	dishevelled-binding antagonist of beta-catenin 1	gene	DOID:0050887	Townes-Brocks syndrome		ISO	RGD:1348421	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Townes-Brocks syndrome	PMID:25741868
1564008	Dact1	dishevelled-binding antagonist of beta-catenin 1	gene	DOID:1115	sarcoma		ISO	RGD:1348421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564008	Dact1	dishevelled-binding antagonist of beta-catenin 1	gene	DOID:1324	lung cancer		ISO	RGD:1348421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564008	Dact1	dishevelled-binding antagonist of beta-catenin 1	gene	DOID:14686	Axenfeld-Rieger syndrome		ISO	RGD:1348421	D	RGD:8554872	20170404	ClinVar		ClinVar Annotator: match by term: Rieger anomaly	PMID:26893459
1564008	Dact1	dishevelled-binding antagonist of beta-catenin 1	gene	DOID:9004070	Townes-Brocks Syndrome 2		ISO	RGD:1348421	D	RGD:7240710	20190315	OMIM			
1564008	Dact1	dishevelled-binding antagonist of beta-catenin 1	gene	DOID:9004070	Townes-Brocks Syndrome 2		ISO	RGD:1348421	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: TOWNES-BROCKS SYNDROME 2 | ClinVar Annotator: match by term: Townes-Brocks syndrome 2	PMID:25741868|PMID:28492532
1564008	Dact1	dishevelled-binding antagonist of beta-catenin 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1348421	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
1564009	Tada3	transcriptional adaptor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564009	Tada3	transcriptional adaptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564010	Edaradd	EDAR associated via death domain	gene	DOID:0050591	tooth agenesis		ISO	RGD:1351297	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Tooth agenesis	PMID:25741868
1564010	Edaradd	EDAR associated via death domain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564010	Edaradd	EDAR associated via death domain	gene	DOID:0111653	ectodermal dysplasia 11A		ISO	RGD:1351297	D	RGD:7240710	20140911	OMIM			
1564010	Edaradd	EDAR associated via death domain	gene	DOID:0111653	ectodermal dysplasia 11A		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	PMID:11780064|PMID:17354266|PMID:20222921|PMID:20979233|PMID:21626677|PMID:25640679|PMID:25741868|PMID:26440664|PMID:28492532|PMID:33502802|PMID:34219261|PMID:34573371
1564010	Edaradd	EDAR associated via death domain	gene	DOID:0111654	ectodermal dysplasia 11B		ISO	RGD:1351297	D	RGD:7240710	20140911	OMIM			
1564010	Edaradd	EDAR associated via death domain	gene	DOID:0111654	ectodermal dysplasia 11B		ISO	RGD:1351297	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive	PMID:11780064|PMID:20222921|PMID:20979233|PMID:21626677|PMID:25741868|PMID:26440664|PMID:26991760|PMID:28492532|PMID:33502802|PMID:34219261
1564010	Edaradd	EDAR associated via death domain	gene	DOID:0111663	ectodermal dysplasia 10A		ISO	RGD:1351297	D	RGD:11554173	20190319	CTD		CTD Direct Evidence: marker/mechanism	
1564010	Edaradd	EDAR associated via death domain	gene	DOID:0111663	ectodermal dysplasia 10A		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	PMID:20222921
1564010	Edaradd	EDAR associated via death domain	gene	DOID:0111665	ectodermal dysplasia 10B		ISO	RGD:1351297	D	RGD:11554173	20190319	CTD		CTD Direct Evidence: marker/mechanism	
1564010	Edaradd	EDAR associated via death domain	gene	DOID:0111665	ectodermal dysplasia 10B		ISO	RGD:1351297	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	PMID:25741868
1564010	Edaradd	EDAR associated via death domain	gene	DOID:10534	stomach cancer		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564010	Edaradd	EDAR associated via death domain	gene	DOID:10754	otitis media		IAGP		D	RGD:14398763|PMID:31028034	20190430	RGD			
1564010	Edaradd	EDAR associated via death domain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564010	Edaradd	EDAR associated via death domain	gene	DOID:1115	sarcoma		ISO	RGD:1351297	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564010	Edaradd	EDAR associated via death domain	gene	DOID:1324	lung cancer		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564010	Edaradd	EDAR associated via death domain	gene	DOID:14793	hypohidrotic ectodermal dysplasia		IAGP		D	RGD:14398762|PMID:22013926	20190430	RGD		DNA:missense mutation:exon:p.Pro153Ser(rat)	
1564010	Edaradd	EDAR associated via death domain	gene	DOID:14793	hypohidrotic ectodermal dysplasia		ISO	RGD:1351297	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia	PMID:20222921|PMID:20979233|PMID:21626677|PMID:25741868|PMID:28492532
1564010	Edaradd	EDAR associated via death domain	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1351297	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive	PMID:25741868|PMID:28492532
1564010	Edaradd	EDAR associated via death domain	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anhidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:11212737|PMID:20222921|PMID:20979233|PMID:21626677|PMID:25741868|PMID:28492532
1564010	Edaradd	EDAR associated via death domain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564010	Edaradd	EDAR associated via death domain	gene	DOID:630	genetic disease		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1564010	Edaradd	EDAR associated via death domain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564010	Edaradd	EDAR associated via death domain	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
1564010	Edaradd	EDAR associated via death domain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351297	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564013	Stmnd1	stathmin domain containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:7205150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1564013	Stmnd1	stathmin domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:7205150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564019	Garnl3	GTPase activating Rap/RanGAP domain-like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564019	Garnl3	GTPase activating Rap/RanGAP domain-like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564019	Garnl3	GTPase activating Rap/RanGAP domain-like 3	gene	DOID:1059	intellectual disability		ISO	RGD:1346418	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	
1564019	Garnl3	GTPase activating Rap/RanGAP domain-like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564019	Garnl3	GTPase activating Rap/RanGAP domain-like 3	gene	DOID:1115	sarcoma		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564019	Garnl3	GTPase activating Rap/RanGAP domain-like 3	gene	DOID:1324	lung cancer		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564019	Garnl3	GTPase activating Rap/RanGAP domain-like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564019	Garnl3	GTPase activating Rap/RanGAP domain-like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1346418	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564019	Garnl3	GTPase activating Rap/RanGAP domain-like 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564019	Garnl3	GTPase activating Rap/RanGAP domain-like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564019	Garnl3	GTPase activating Rap/RanGAP domain-like 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564019	Garnl3	GTPase activating Rap/RanGAP domain-like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564019	Garnl3	GTPase activating Rap/RanGAP domain-like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564019	Garnl3	GTPase activating Rap/RanGAP domain-like 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564024	Tmem200a	transmembrane protein 200A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564024	Tmem200a	transmembrane protein 200A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564024	Tmem200a	transmembrane protein 200A	gene	DOID:1115	sarcoma		ISO	RGD:1345256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564024	Tmem200a	transmembrane protein 200A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564025	Eda2r	ectodysplasin A2 receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564025	Eda2r	ectodysplasin A2 receptor	gene	DOID:0050591	tooth agenesis		ISO	RGD:1344270	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:25741868
1564025	Eda2r	ectodysplasin A2 receptor	gene	DOID:1324	lung cancer		ISO	RGD:1344270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564025	Eda2r	ectodysplasin A2 receptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564025	Eda2r	ectodysplasin A2 receptor	gene	DOID:4362	cervical cancer		ISO	RGD:1344270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564025	Eda2r	ectodysplasin A2 receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564025	Eda2r	ectodysplasin A2 receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564027	Amot	angiomotin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564027	Amot	angiomotin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564027	Amot	angiomotin	gene	DOID:10908	hydrocephalus		ISO	RGD:1344662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
1564027	Amot	angiomotin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564027	Amot	angiomotin	gene	DOID:1324	lung cancer		ISO	RGD:1344662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564027	Amot	angiomotin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564027	Amot	angiomotin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564027	Amot	angiomotin	gene	DOID:4362	cervical cancer		ISO	RGD:1344662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564027	Amot	angiomotin	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:1344662	D	RGD:8554872	20160419	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:26350515
1564027	Amot	angiomotin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564027	Amot	angiomotin	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1344662	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935819
1564036	Mrnip	MRN complex interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1606005	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564036	Mrnip	MRN complex interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564036	Mrnip	MRN complex interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1606005	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564036	Mrnip	MRN complex interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564036	Mrnip	MRN complex interacting protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1564036	Mrnip	MRN complex interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564036	Mrnip	MRN complex interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564038	Vgll1	vestigial-like family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564038	Vgll1	vestigial-like family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352400	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564038	Vgll1	vestigial-like family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564038	Vgll1	vestigial-like family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564038	Vgll1	vestigial-like family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564043	Susd4	sushi domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564043	Susd4	sushi domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564043	Susd4	sushi domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1605987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564043	Susd4	sushi domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1605987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564043	Susd4	sushi domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564043	Susd4	sushi domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1605987	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564043	Susd4	sushi domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564043	Susd4	sushi domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605987	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564043	Susd4	sushi domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564046	Ccdc38	coiled-coil domain containing 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564046	Ccdc38	coiled-coil domain containing 38	gene	DOID:10534	stomach cancer		ISO	RGD:1603366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564046	Ccdc38	coiled-coil domain containing 38	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564046	Ccdc38	coiled-coil domain containing 38	gene	DOID:4362	cervical cancer		ISO	RGD:1603366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564046	Ccdc38	coiled-coil domain containing 38	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564046	Ccdc38	coiled-coil domain containing 38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564046	Ccdc38	coiled-coil domain containing 38	gene	DOID:9256	colorectal cancer		ISO	RGD:1603366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564049	Sertad2	SERTA domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1350169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564049	Sertad2	SERTA domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1350169	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564049	Sertad2	SERTA domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564050	Lima1	LIM domain and actin binding 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564050	Lima1	LIM domain and actin binding 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564050	Lima1	LIM domain and actin binding 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564050	Lima1	LIM domain and actin binding 1	gene	DOID:1115	sarcoma		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564050	Lima1	LIM domain and actin binding 1	gene	DOID:1324	lung cancer		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564050	Lima1	LIM domain and actin binding 1	gene	DOID:3275	thymoma		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564050	Lima1	LIM domain and actin binding 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564050	Lima1	LIM domain and actin binding 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602328	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564050	Lima1	LIM domain and actin binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564053	C5h8orf34	similar to human chromosome 8 open reading frame 34	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564053	C5h8orf34	similar to human chromosome 8 open reading frame 34	gene	DOID:4362	cervical cancer		ISO	RGD:1605303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564053	C5h8orf34	similar to human chromosome 8 open reading frame 34	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564053	C5h8orf34	similar to human chromosome 8 open reading frame 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564056	Creg2	cellular repressor of E1A-stimulated genes 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564056	Creg2	cellular repressor of E1A-stimulated genes 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564057	Adgrg4	adhesion G protein-coupled receptor G4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564057	Adgrg4	adhesion G protein-coupled receptor G4	gene	DOID:10534	stomach cancer		ISO	RGD:1346347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564057	Adgrg4	adhesion G protein-coupled receptor G4	gene	DOID:1115	sarcoma		ISO	RGD:1346347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564057	Adgrg4	adhesion G protein-coupled receptor G4	gene	DOID:1909	melanoma		ISO	RGD:1346347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564057	Adgrg4	adhesion G protein-coupled receptor G4	gene	DOID:5041	esophageal cancer		ISO	RGD:1346347	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564057	Adgrg4	adhesion G protein-coupled receptor G4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564058	Wdr83os	WD repeat domain 83 opposite strand	gene	DOID:9009269	NEURODEVELOPMENTAL DISORDER WITH VARIABLE FAMILIAL HYPERCHOLANEMIA		ISO	RGD:1605383	D	RGD:7240710	20250108	OMIM			
1564059	Fmr1nb	FMR1 neighbor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564059	Fmr1nb	FMR1 neighbor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564059	Fmr1nb	FMR1 neighbor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564063	Pm20d1	peptidase M20 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564063	Pm20d1	peptidase M20 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564073	Helt	helt bHLH transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:2292703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564073	Helt	helt bHLH transcription factor	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:2292703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1564074	Fyb2	FYN binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564074	Fyb2	FYN binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564074	Fyb2	FYN binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1604211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564074	Fyb2	FYN binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1604211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564074	Fyb2	FYN binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564074	Fyb2	FYN binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1604211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564074	Fyb2	FYN binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604211	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564074	Fyb2	FYN binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564074	Fyb2	FYN binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564074	Fyb2	FYN binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564074	Fyb2	FYN binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564076	Prkx	protein kinase cAMP-dependent X-linked catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564076	Prkx	protein kinase cAMP-dependent X-linked catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564076	Prkx	protein kinase cAMP-dependent X-linked catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1353983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564076	Prkx	protein kinase cAMP-dependent X-linked catalytic subunit	gene	DOID:1324	lung cancer		ISO	RGD:1353983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564076	Prkx	protein kinase cAMP-dependent X-linked catalytic subunit	gene	DOID:3275	thymoma		ISO	RGD:1353983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564076	Prkx	protein kinase cAMP-dependent X-linked catalytic subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1353983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564076	Prkx	protein kinase cAMP-dependent X-linked catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564076	Prkx	protein kinase cAMP-dependent X-linked catalytic subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564076	Prkx	protein kinase cAMP-dependent X-linked catalytic subunit	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564076	Prkx	protein kinase cAMP-dependent X-linked catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564076	Prkx	protein kinase cAMP-dependent X-linked catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564080	Cdca7l	cell division cycle associated 7 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564080	Cdca7l	cell division cycle associated 7 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564080	Cdca7l	cell division cycle associated 7 like	gene	DOID:1115	sarcoma		ISO	RGD:1602109	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564080	Cdca7l	cell division cycle associated 7 like	gene	DOID:1324	lung cancer		ISO	RGD:1602109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564080	Cdca7l	cell division cycle associated 7 like	gene	DOID:1909	melanoma		ISO	RGD:1602109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564080	Cdca7l	cell division cycle associated 7 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1602109	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564080	Cdca7l	cell division cycle associated 7 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564080	Cdca7l	cell division cycle associated 7 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564081	Arhgap42	Rho GTPase activating protein 42	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564081	Arhgap42	Rho GTPase activating protein 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564081	Arhgap42	Rho GTPase activating protein 42	gene	DOID:1115	sarcoma		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564081	Arhgap42	Rho GTPase activating protein 42	gene	DOID:234	colon adenocarcinoma		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564081	Arhgap42	Rho GTPase activating protein 42	gene	DOID:4362	cervical cancer		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564081	Arhgap42	Rho GTPase activating protein 42	gene	DOID:5041	esophageal cancer		ISO	RGD:3500508	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564081	Arhgap42	Rho GTPase activating protein 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564081	Arhgap42	Rho GTPase activating protein 42	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564081	Arhgap42	Rho GTPase activating protein 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3500508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564082	Vash1	vasohibin 1	gene	DOID:10762	portal hypertension	disease_progression	IEP		D	RGD:15003198|PMID:24390792	20191107	RGD			
1564082	Vash1	vasohibin 1	gene	DOID:10762	portal hypertension	treatment	ISO	RGD:1352548	D	RGD:15003198|PMID:24390792	20191107	RGD			
1564082	Vash1	vasohibin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564082	Vash1	vasohibin 1	gene	DOID:1324	lung cancer		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564082	Vash1	vasohibin 1	gene	DOID:3275	thymoma		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564082	Vash1	vasohibin 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1352548	D	RGD:15003198|PMID:24390792	20191107	RGD		associated with Hepatitis C, Chronic; protein:increased expression:liver	
1564082	Vash1	vasohibin 1	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:1352548	D	RGD:15003198|PMID:24390792	20191107	RGD			
1564082	Vash1	vasohibin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564082	Vash1	vasohibin 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1564082	Vash1	vasohibin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564084	Tipin	timeless interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564084	Tipin	timeless interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1606275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564084	Tipin	timeless interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1606275	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564084	Tipin	timeless interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564084	Tipin	timeless interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564084	Tipin	timeless interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564084	Tipin	timeless interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:1788	peritoneal mesothelioma		ISO	RGD:1349703	D	RGD:8554872	20211026	ClinVar		ClinVar Annotator: match by term: Peritoneal mesothelioma	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1349703	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26950094
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1349703	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1349703	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17049657
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:3307	teratoma		ISO	RGD:1349703	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:9005834	Ependymomas		ISO	RGD:1349703	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:9006493	Glandular and Epithelial Neoplasms		ISO	RGD:1349703	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21447609
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564085	Lats1	large tumor suppressor kinase 1	gene	DOID:9538	multiple myeloma		ISO	RGD:1349703	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:1115	sarcoma		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:1324	lung cancer		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:1909	melanoma		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:289	endometriosis		ISO	RGD:1605705	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104006
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605705	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605705	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16496412
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564091	Greb1	growth regulating estrogen receptor binding 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564093	Trir	telomerase RNA component interacting RNase	gene	DOID:1324	lung cancer		ISO	RGD:1604305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564093	Trir	telomerase RNA component interacting RNase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564099	Dram2	DNA damage regulated autophagy modulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564099	Dram2	DNA damage regulated autophagy modulator 2	gene	DOID:0081447	cone-rod dystrophy 21		ISO	RGD:1604537	D	RGD:7240710	20171011	OMIM			
1564099	Dram2	DNA damage regulated autophagy modulator 2	gene	DOID:0081447	cone-rod dystrophy 21		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 21 | ClinVar Annotator: match by term: Cone-rod dystrophy 21 | ClinVar Annotator: match by term: DRAM2-related disorder	PMID:25741868|PMID:25983245|PMID:28492532
1564099	Dram2	DNA damage regulated autophagy modulator 2	gene	DOID:0081447	cone-rod dystrophy 21		ISS	RGD:1617548	D	RGD:13592920	20250828	MouseDO		OMIM:616502	
1564099	Dram2	DNA damage regulated autophagy modulator 2	gene	DOID:0111022	cone-rod dystrophy 16		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy with early macular involvement	PMID:25741868|PMID:28492532
1564099	Dram2	DNA damage regulated autophagy modulator 2	gene	DOID:1909	melanoma		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564099	Dram2	DNA damage regulated autophagy modulator 2	gene	DOID:3275	thymoma		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564099	Dram2	DNA damage regulated autophagy modulator 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564099	Dram2	DNA damage regulated autophagy modulator 2	gene	DOID:5679	retinal disease		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
1564099	Dram2	DNA damage regulated autophagy modulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564099	Dram2	DNA damage regulated autophagy modulator 2	gene	DOID:630	genetic disease		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1564099	Dram2	DNA damage regulated autophagy modulator 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1604537	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal Dystrophy | ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:25741868|PMID:25983245|PMID:28492532|PMID:32483926|PMID:35806404
1564099	Dram2	DNA damage regulated autophagy modulator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564105	Vash2	vasohibin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564105	Vash2	vasohibin 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1602689	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1564105	Vash2	vasohibin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602689	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564105	Vash2	vasohibin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564105	Vash2	vasohibin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564105	Vash2	vasohibin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564106	Ntmt2	N-terminal Xaa-Pro-Lys N-methyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564106	Ntmt2	N-terminal Xaa-Pro-Lys N-methyltransferase 2	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1601929	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1354359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:10892	hypospadias		ISO	RGD:1354359	D	RGD:11554173	20191210	CTD		CTD Direct Evidence: marker/mechanism	PMID:31568847
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1354359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:12236	primary biliary cholangitis		IEP		D	RGD:11552599|PMID:18375471	20161012	RGD		mRNA:decreased expression:	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1354359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1557623	D	RGD:11552592|PMID:15024045	20161012	RGD		mRNA:increased expression:skin:	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:2513	basal cell carcinoma	treatment	ISO	RGD:1557623	D	RGD:11552592|PMID:15024045	20161012	RGD			
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1354359	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease, biomass related	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1354359	D	RGD:11552597|PMID:25928290	20161012	RGD		DNA:SNPs: :rs11100865, rs7654947(human)	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1354359	D	RGD:11552598|PMID:19996190	20161012	RGD		DNA:SNP: :rs13118928(human)	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1354359	D	RGD:632518348|PMID:23299987	20260206	RGD		DNA:SNP:5' utr:rs13118928	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1354359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:5082	liver cirrhosis		ISO	RGD:1557623	D	RGD:11552602|PMID:19815628	20161012	RGD		mRNA:decreased expression:liver:	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354359	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18559595
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:9001240	Peripheral Nerve Injuries		IEP		D	RGD:11552601|PMID:19515211	20161012	RGD			
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1354359	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1354359	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1557623	D	RGD:11552596|PMID:25763110	20161012	RGD		DNA:haploinsufficiency	
1564108	Hhip	Hedgehog-interacting protein	gene	DOID:9743	diabetic neuropathy		IEP		D	RGD:11552601|PMID:19515211	20161012	RGD			
1564113	Mapkapk5	MAPK activated protein kinase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1354160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564113	Mapkapk5	MAPK activated protein kinase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564113	Mapkapk5	MAPK activated protein kinase 5	gene	DOID:1115	sarcoma		ISO	RGD:1354160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564113	Mapkapk5	MAPK activated protein kinase 5	gene	DOID:1909	melanoma		ISO	RGD:1354160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564113	Mapkapk5	MAPK activated protein kinase 5	gene	DOID:3275	thymoma		ISO	RGD:1354160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564113	Mapkapk5	MAPK activated protein kinase 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564113	Mapkapk5	MAPK activated protein kinase 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868|PMID:33442026
1564113	Mapkapk5	MAPK activated protein kinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564113	Mapkapk5	MAPK activated protein kinase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564113	Mapkapk5	MAPK activated protein kinase 5	gene	DOID:9004830	NEUROCARDIOFACIODIGITAL SYNDROME		ISO	RGD:1354160	D	RGD:7240710	20220629	OMIM			
1564113	Mapkapk5	MAPK activated protein kinase 5	gene	DOID:9004830	NEUROCARDIOFACIODIGITAL SYNDROME		ISO	RGD:1354160	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROCARDIOFACIODIGITAL SYNDROME | ClinVar Annotator: match by term: Neurocardiofaciodigital syndrome	PMID:25741868
1564113	Mapkapk5	MAPK activated protein kinase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564113	Mapkapk5	MAPK activated protein kinase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564113	Mapkapk5	MAPK activated protein kinase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564114	Cfap77	cilia and flagella associated protein 77	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564114	Cfap77	cilia and flagella associated protein 77	gene	DOID:10534	stomach cancer		ISO	RGD:1604151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564114	Cfap77	cilia and flagella associated protein 77	gene	DOID:1909	melanoma		ISO	RGD:1604151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564114	Cfap77	cilia and flagella associated protein 77	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564114	Cfap77	cilia and flagella associated protein 77	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564116	Wdr35	WD repeat domain 35	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564116	Wdr35	WD repeat domain 35	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1315220	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868|PMID:27158779|PMID:28400947
1564116	Wdr35	WD repeat domain 35	gene	DOID:0050577	cranioectodermal dysplasia		ISO	RGD:1315220	D	RGD:11554173	20170822	CTD		CTD Direct Evidence: marker/mechanism	
1564116	Wdr35	WD repeat domain 35	gene	DOID:0050581	brachydactyly		ISO	RGD:1315220	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:27158779|PMID:28400947
1564116	Wdr35	WD repeat domain 35	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1315220	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1564116	Wdr35	WD repeat domain 35	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type | ClinVar Annotator: match by term: Short ribs | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:22486404|PMID:25741868|PMID:27158779|PMID:28400947|PMID:28492532|PMID:29068549
1564116	Wdr35	WD repeat domain 35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564116	Wdr35	WD repeat domain 35	gene	DOID:0080804	cranioectodermal dysplasia 2		ISO	RGD:1315220	D	RGD:11553909|PMID:22987818	20161017	RGD		DNA:missense mutation:cds:p.L520P (human)	
1564116	Wdr35	WD repeat domain 35	gene	DOID:0080804	cranioectodermal dysplasia 2		ISO	RGD:1315220	D	RGD:7240710	20130221	OMIM			
1564116	Wdr35	WD repeat domain 35	gene	DOID:0080804	cranioectodermal dysplasia 2		ISO	RGD:1315220	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CRANIOECTODERMAL DYSPLASIA 2 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar Annotator: match by term: WDR35-related disorder	PMID:16199547|PMID:17576681|PMID:21473986|PMID:22486404|PMID:24027799|PMID:24123776|PMID:25741868|PMID:25908617|PMID:27158779|PMID:28332779|PMID:28400947|PMID:28492532|PMID:28870638|PMID:29068549|PMID:31785789|PMID:32804427|PMID:33369054|PMID:33606107|PMID:34421506|PMID:37596520|PMID:9536098
1564116	Wdr35	WD repeat domain 35	gene	DOID:0110090	short-rib thoracic dysplasia 7 with or without polydactyly		ISO	RGD:1315220	D	RGD:7240710	20140911	OMIM			
1564116	Wdr35	WD repeat domain 35	gene	DOID:0110090	short-rib thoracic dysplasia 7 with or without polydactyly		ISO	RGD:1315220	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short rib polydactyly syndrome 5 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly	PMID:16199547|PMID:17576681|PMID:22486404|PMID:25741868|PMID:27158779|PMID:28400947|PMID:28492532|PMID:29068549|PMID:31785789|PMID:33606107|PMID:9536098
1564116	Wdr35	WD repeat domain 35	gene	DOID:0110090	short-rib thoracic dysplasia 7 with or without polydactyly		ISS	RGD:1315221	D	RGD:13592920	20230718	MouseDO		OMIM:614091	
1564116	Wdr35	WD repeat domain 35	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly	PMID:25741868|PMID:28492532|PMID:29068549
1564116	Wdr35	WD repeat domain 35	gene	DOID:10534	stomach cancer		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1564116	Wdr35	WD repeat domain 35	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564116	Wdr35	WD repeat domain 35	gene	DOID:1115	sarcoma		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1564116	Wdr35	WD repeat domain 35	gene	DOID:1148	polydactyly		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:28492532
1564116	Wdr35	WD repeat domain 35	gene	DOID:12714	Ellis-Van Creveld syndrome		ISO	RGD:1315220	D	RGD:11073852|PMID:25908617	20161017	RGD		DNA:snps:introns, cds:multiple (human)	
1564116	Wdr35	WD repeat domain 35	gene	DOID:12714	Ellis-Van Creveld syndrome		ISO	RGD:1315220	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ellis-van Creveld syndrome	PMID:25741868|PMID:28492532
1564116	Wdr35	WD repeat domain 35	gene	DOID:1324	lung cancer		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564116	Wdr35	WD repeat domain 35	gene	DOID:1682	congenital heart disease		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868|PMID:28492532
1564116	Wdr35	WD repeat domain 35	gene	DOID:1909	melanoma		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564116	Wdr35	WD repeat domain 35	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
1564116	Wdr35	WD repeat domain 35	gene	DOID:2340	craniosynostosis		ISO	RGD:1315220	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20817137
1564116	Wdr35	WD repeat domain 35	gene	DOID:2975	cystic kidney disease		ISO	RGD:1315220	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868|PMID:27158779|PMID:28400947
1564116	Wdr35	WD repeat domain 35	gene	DOID:3070	high grade glioma		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564116	Wdr35	WD repeat domain 35	gene	DOID:3275	thymoma		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564116	Wdr35	WD repeat domain 35	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564116	Wdr35	WD repeat domain 35	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564116	Wdr35	WD repeat domain 35	gene	DOID:5041	esophageal cancer		ISO	RGD:1315220	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1564116	Wdr35	WD repeat domain 35	gene	DOID:5082	liver cirrhosis		IEP		D	RGD:11553927|PMID:18472094	20161018	RGD		mRNA:increased expression:liver (rat)	
1564116	Wdr35	WD repeat domain 35	gene	DOID:5082	liver cirrhosis		ISO	RGD:1315220	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cirrhosis of liver	PMID:25741868|PMID:27158779|PMID:28400947
1564116	Wdr35	WD repeat domain 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564116	Wdr35	WD repeat domain 35	gene	DOID:6039	uveal melanoma		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1564116	Wdr35	WD repeat domain 35	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1564116	Wdr35	WD repeat domain 35	gene	DOID:630	genetic disease		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1564116	Wdr35	WD repeat domain 35	gene	DOID:65	connective tissue disease		ISO	RGD:1315220	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532|PMID:29068549
1564116	Wdr35	WD repeat domain 35	gene	DOID:9000197	Edema		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	
1564116	Wdr35	WD repeat domain 35	gene	DOID:9001031	Retrognathia		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:28492532
1564116	Wdr35	WD repeat domain 35	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868|PMID:28492532
1564116	Wdr35	WD repeat domain 35	gene	DOID:9003056	Short-Rib Thoracic Dysplasia 20 with Polydactyly		ISO	RGD:1315220	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic	PMID:25741868|PMID:27158779|PMID:28400947
1564116	Wdr35	WD repeat domain 35	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:11553923|PMID:20224876	20161017	RGD		mRNA:increased expression:kidney (rat)	
1564116	Wdr35	WD repeat domain 35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564116	Wdr35	WD repeat domain 35	gene	DOID:9007661	Dwarfism		ISO	RGD:1315220	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:27158779|PMID:28400947
1564116	Wdr35	WD repeat domain 35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564116	Wdr35	WD repeat domain 35	gene	DOID:9256	colorectal cancer		ISO	RGD:1315220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1564117	Nhsl2	NHS-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564117	Nhsl2	NHS-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564117	Nhsl2	NHS-like 2	gene	DOID:0111829	X-linked spinocerebellar ataxia 1		ISO	RGD:1603499	D	RGD:8554872	20151013	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked	PMID:26242992
1564117	Nhsl2	NHS-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564117	Nhsl2	NHS-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564120	Ccn6	cellular communication network factor 6	gene	DOID:0090004	progressive pseudorheumatoid arthropathy of childhood		ISO	RGD:1345324	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564120	Ccn6	cellular communication network factor 6	gene	DOID:0090004	progressive pseudorheumatoid arthropathy of childhood		ISO	RGD:1345324	D	RGD:7240710	20130221	OMIM			
1564120	Ccn6	cellular communication network factor 6	gene	DOID:0090004	progressive pseudorheumatoid arthropathy of childhood		ISO	RGD:1345324	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CCN6-related condition | ClinVar Annotator: match by term: Progressive Pseudorheumatoid Arthropathy of Childhood | ClinVar Annotator: match by term: Progressive pseudorheumatoid dysplasia	PMID:10471507|PMID:15631777|PMID:16152649|PMID:16199547|PMID:17576681|PMID:21993478|PMID:22685593|PMID:22791401|PMID:22987568|PMID:23270760|PMID:25738435|PMID:25741868|PMID:25794430|PMID:25988854|PMID:27291587|PMID:28018607|PMID:28210640|PMID:28492532|PMID:29258992|PMID:29620724|PMID:32382396|PMID:34008892|PMID:34919662|PMID:36622578|PMID:37334733|PMID:37377052|PMID:9536098
1564120	Ccn6	cellular communication network factor 6	gene	DOID:0090004	progressive pseudorheumatoid arthropathy of childhood		ISS	RGD:1622848	D	RGD:13592920	20230718	MouseDO		OMIM:208230	
1564120	Ccn6	cellular communication network factor 6	gene	DOID:13068	renal osteodystrophy		ISO	RGD:1345324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal rickets	
1564120	Ccn6	cellular communication network factor 6	gene	DOID:381	arthropathy		ISO	RGD:1345324	D	RGD:1599850|PMID:10471507	20070219	RGD		PPAC, OMIM:208230	
1564120	Ccn6	cellular communication network factor 6	gene	DOID:4680	breast metaplastic carcinoma		ISS	RGD:1622848	D	RGD:13592920	20180518	MouseDO			
1564120	Ccn6	cellular communication network factor 6	gene	DOID:630	genetic disease		ISO	RGD:1345324	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22791401|PMID:22987568|PMID:23270760|PMID:23424195|PMID:25741868|PMID:25988854|PMID:27436824|PMID:28492532|PMID:32351055
1564120	Ccn6	cellular communication network factor 6	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1345324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:10471507|PMID:22791401|PMID:25741868|PMID:28492532|PMID:29620724
1564120	Ccn6	cellular communication network factor 6	gene	DOID:9008214	Genu Valgum		ISO	RGD:1345324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Knock knees	
1564128	Vit	vitrin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564128	Vit	vitrin	gene	DOID:10534	stomach cancer		ISO	RGD:1353199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564128	Vit	vitrin	gene	DOID:1115	sarcoma		ISO	RGD:1353199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564128	Vit	vitrin	gene	DOID:1324	lung cancer		ISO	RGD:1353199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564128	Vit	vitrin	gene	DOID:1909	melanoma		ISO	RGD:1353199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564128	Vit	vitrin	gene	DOID:4362	cervical cancer		ISO	RGD:1353199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564128	Vit	vitrin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564128	Vit	vitrin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1352187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:1909	melanoma		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:3275	thymoma		ISO	RGD:1352187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352187	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564130	Btaf1	B-TFIID TATA-box binding protein associated factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1352187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564132	Rwdd4	RWD domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564132	Rwdd4	RWD domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564132	Rwdd4	RWD domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564132	Rwdd4	RWD domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564132	Rwdd4	RWD domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564132	Rwdd4	RWD domain containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564132	Rwdd4	RWD domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564132	Rwdd4	RWD domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564142	Wdfy4	WDFY family member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564142	Wdfy4	WDFY family member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564142	Wdfy4	WDFY family member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564142	Wdfy4	WDFY family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564142	Wdfy4	WDFY family member 4	gene	DOID:12849	autistic disorder		ISO	RGD:1350991	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30559488
1564142	Wdfy4	WDFY family member 4	gene	DOID:1324	lung cancer		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564142	Wdfy4	WDFY family member 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564142	Wdfy4	WDFY family member 4	gene	DOID:3275	thymoma		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564142	Wdfy4	WDFY family member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564142	Wdfy4	WDFY family member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564142	Wdfy4	WDFY family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564142	Wdfy4	WDFY family member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564142	Wdfy4	WDFY family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564142	Wdfy4	WDFY family member 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1564142	Wdfy4	WDFY family member 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350991	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:30559488
1564142	Wdfy4	WDFY family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564142	Wdfy4	WDFY family member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564145	Lrrn1	leucine rich repeat neuronal 1	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1345511	D	RGD:152995287|PMID:28035468	20220614	RGD		mRNA:altered expression:stomach tumor (human)	
1564145	Lrrn1	leucine rich repeat neuronal 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564145	Lrrn1	leucine rich repeat neuronal 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345511	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564146	Slc5a8	solute carrier family 5 member 8	gene	DOID:1324	lung cancer		ISO	RGD:1352176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564146	Slc5a8	solute carrier family 5 member 8	gene	DOID:1920	hyperuricemia		ISO	RGD:1352176	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20589576
1564146	Slc5a8	solute carrier family 5 member 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564146	Slc5a8	solute carrier family 5 member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564146	Slc5a8	solute carrier family 5 member 8	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1352176	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15090606|PMID:16670197
1564146	Slc5a8	solute carrier family 5 member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564147	Garin1b	golgi associated RAB2 interactor 1B	gene	DOID:2394	ovarian cancer		ISO	RGD:1606759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564147	Garin1b	golgi associated RAB2 interactor 1B	gene	DOID:3275	thymoma		ISO	RGD:1606759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564147	Garin1b	golgi associated RAB2 interactor 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1606759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564147	Garin1b	golgi associated RAB2 interactor 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1606759	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564147	Garin1b	golgi associated RAB2 interactor 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564147	Garin1b	golgi associated RAB2 interactor 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564149	C20h21orf58	similar to human chromosome 21 open reading frame 58	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564149	C20h21orf58	similar to human chromosome 21 open reading frame 58	gene	DOID:10534	stomach cancer		ISO	RGD:1351432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564149	C20h21orf58	similar to human chromosome 21 open reading frame 58	gene	DOID:1324	lung cancer		ISO	RGD:1351432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564149	C20h21orf58	similar to human chromosome 21 open reading frame 58	gene	DOID:4362	cervical cancer		ISO	RGD:1351432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564149	C20h21orf58	similar to human chromosome 21 open reading frame 58	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564149	C20h21orf58	similar to human chromosome 21 open reading frame 58	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564150	Zfp518b	zinc finger protein 518B	gene	DOID:1115	sarcoma		ISO	RGD:1604562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564150	Zfp518b	zinc finger protein 518B	gene	DOID:4362	cervical cancer		ISO	RGD:1604562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564150	Zfp518b	zinc finger protein 518B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604562	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564150	Zfp518b	zinc finger protein 518B	gene	DOID:6039	uveal melanoma		ISO	RGD:1604562	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1564150	Zfp518b	zinc finger protein 518B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564150	Zfp518b	zinc finger protein 518B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:0080600	COVID-19		ISO	RGD:1345011	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:1115	sarcoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:1909	melanoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:4362	cervical cancer		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345011	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564153	Plekha1	pleckstrin homology domain containing A1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345011	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1347629	D	RGD:4891931|PMID:17854592	20110121	RGD			
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1318175	D	RGD:628374357|PMID:23565190	20251007	RGD			
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:0080826	nocturnal asthma	susceptibility	ISO	RGD:1347629	D	RGD:628374610|PMID:30927345	20251009	RGD		DNA:SNPs: :multiple	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:1205	allergic disease		ISO	RGD:1347629	D	RGD:634726643|PMID:19996348	20260303	RGD		DNA:SNPs: : multiple	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1347629	D	RGD:4891932|PMID:16938805	20110121	RGD			
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1347629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2560	morphine dependence		IEP		D	RGD:9831198|PMID:23684726	20150303	RGD			
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15710598|PMID:15764725|PMID:16926187
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:4889589|PMID:18305139	20260302	RGD		protein:increased expression:epithelium of bronchus	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:4891921|PMID:15073379	20110121	RGD			
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:4891922|PMID:18285428	20110121	RGD			
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:4891923|PMID:17702965	20110121	RGD		DNA:SNPs: :rs714588, rs2609234, rs1379928	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:632645232|PMID:28463995	20260302	RGD		DNA: SNPs: :rs887020, rs11770777, rs2531840	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:634435999|PMID:27145233	20260303	RGD		protein:increased expression:blood plasma	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:635174445|PMID:19624525	20260303	RGD		DNA:SNP, haplotype: :rs740347	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:635259248|PMID:17210045	20260303	RGD		DNA:SNPs, haplotypes: :multiple	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma		ISO	RGD:1347629	D	RGD:640127713|PMID:15710598	20260305	RGD		DNA:SNPs, haplotype: :multiple	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma	no_association	ISO	RGD:1347629	D	RGD:635220549|PMID:18340359	20260303	RGD		DNA:SNPs, haplotypes: :multiple	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma	no_association	ISO	RGD:1347629	D	RGD:635332549|PMID:15990798	20260303	RGD		DNA:SNP: :rs323922	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma	severity	ISO	RGD:1347629	D	RGD:632645235|PMID:23372674	20260302	RGD		DNA:hypomethylation:promoter	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma	severity	ISO	RGD:1347629	D	RGD:635383003|PMID:24239856	20260303	RGD		protein:increased expression:blood, eosinophil	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1347629	D	RGD:640209581|PMID:15764725	20260305	RGD		DNA:SNPs, haplotype: :multiple	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:3042	allergic contact dermatitis	treatment	ISO	RGD:1347629	D	RGD:634560752|PMID:24439655	20260303	RGD		DNA:SNP	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:3310	atopic dermatitis	no_association	ISO	RGD:1347629	D	RGD:635332549|PMID:15990798	20260303	RGD		DNA:SNP: :rs323922	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:1347629	D	RGD:635060375|PMID:23663310	20260303	RGD		DNA:SNPs: :multiple	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:594	panic disorder		ISO	RGD:1347629	D	RGD:632645233|PMID:20705147	20260302	RGD		DNA:SNPs: :multiple	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1347629	D	RGD:4891930|PMID:20179762	20110121	RGD			
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:77	gastrointestinal system disease		ISO	RGD:1347629	D	RGD:634684261|PMID:25091462	20260303	RGD		DNA:SNPs: promoter, exon, intron: multiple	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:8577	ulcerative colitis	susceptibility	ISO	RGD:1347629	D	RGD:634489093|PMID:22216302	20260303	RGD		DNA:SNPs, haplotype:promoter, cds: -103T>C (rs2530547), p.I107N (rs324981), p.R241S (rs727162)	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:9000252	Allergic Rhinoconjunctivitis	susceptibility	ISO	RGD:1347629	D	RGD:4889589|PMID:18305139	20260302	RGD		DNA:SNP: :rs324396	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:9000499	Alcoholic Intoxication		IEP		D	RGD:9831199|PMID:19860802	20150303	RGD		mRNA:increased expression:brain	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:9001109	Anorexia		IMP		D	RGD:9835045|PMID:19821837	20150317	RGD			
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:9002457	Experimental Arthritis	treatment	IMP		D	RGD:9831205|PMID:24884567	20150303	RGD			
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:9005632	Cocaine-Related Disorders	treatment	IMP		D	RGD:9831202|PMID:22982682	20150303	RGD			
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:9008727	Ige Responsiveness, Atopic		ISO	RGD:1347629	D	RGD:640127713|PMID:15710598	20260305	RGD		DNA:SNPs, haplotypes: :multiple	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:9009388	Familial Natural Short Sleep 3		ISO	RGD:1347629	D	RGD:7240710	20251001	OMIM			
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:9415	allergic asthma		ISO	RGD:1347629	D	RGD:632645235|PMID:23372674	20260302	RGD		DNA:hypomethylation:promoter	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:9415	allergic asthma		ISO	RGD:1347629	D	RGD:635107921|PMID:17285544	20260303	RGD		DNA:SNPs, haplotypes: :rs323922, rs324396	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:9415	allergic asthma		ISO	RGD:1347629	D	RGD:640075717|PMID:19247692	20260305	RGD		DNA:SNP: :rs1006392	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:9415	allergic asthma	onset	ISO	RGD:1347629	D	RGD:634726643|PMID:19996348	20260303	RGD		DNA:SNPs: : multiple	
1564154	Npsr1	neuropeptide S receptor 1	gene	DOID:9415	allergic asthma	susceptibility	ISO	RGD:1347629	D	RGD:4889589|PMID:18305139	20260323	RGD		DNA:SNPs:intron:rs323922, rs324384	
1564158	Itpripl1	ITPRIP like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564158	Itpripl1	ITPRIP like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1603562	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1564158	Itpripl1	ITPRIP like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1603562	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1564158	Itpripl1	ITPRIP like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564158	Itpripl1	ITPRIP like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564158	Itpripl1	ITPRIP like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:1115	sarcoma		ISO	RGD:1313712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:1909	melanoma		ISO	RGD:1313712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313712	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564160	Slc37a2	solute carrier family 37 member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564162	C20h22orf15	similar to human chromosome 22 open reading frame 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564162	C20h22orf15	similar to human chromosome 22 open reading frame 15	gene	DOID:1324	lung cancer		ISO	RGD:1349066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564162	C20h22orf15	similar to human chromosome 22 open reading frame 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564163	Fam229a	family with sequence similarity 229, member A	gene	DOID:2394	ovarian cancer		ISO	RGD:7204883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:10534	stomach cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:1115	sarcoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:1324	lung cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:2394	ovarian cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:3070	high grade glioma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:3275	thymoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:4362	cervical cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1601798	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:6039	uveal melanoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564165	Ccdc18	coiled-coil domain containing 18	gene	DOID:9256	colorectal cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564168	Cep112	centrosomal protein 112	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564168	Cep112	centrosomal protein 112	gene	DOID:0112109	spermatogenic failure 44		ISO	RGD:1604510	D	RGD:7240710	20201021	OMIM			
1564168	Cep112	centrosomal protein 112	gene	DOID:0112109	spermatogenic failure 44		ISO	RGD:1604510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 44 | ClinVar Annotator: match by term: Spermatogenic failure 44 | ClinVar Annotator: match by term: spermatogenic failure 44	PMID:25741868
1564168	Cep112	centrosomal protein 112	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564168	Cep112	centrosomal protein 112	gene	DOID:1115	sarcoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564168	Cep112	centrosomal protein 112	gene	DOID:1909	melanoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564168	Cep112	centrosomal protein 112	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564168	Cep112	centrosomal protein 112	gene	DOID:3275	thymoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564168	Cep112	centrosomal protein 112	gene	DOID:4362	cervical cancer		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564168	Cep112	centrosomal protein 112	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564168	Cep112	centrosomal protein 112	gene	DOID:5041	esophageal cancer		ISO	RGD:1604510	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564168	Cep112	centrosomal protein 112	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564168	Cep112	centrosomal protein 112	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564168	Cep112	centrosomal protein 112	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564168	Cep112	centrosomal protein 112	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564168	Cep112	centrosomal protein 112	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564169	Klhl38	kelch-like family member 38	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2300033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564169	Klhl38	kelch-like family member 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2300033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564169	Klhl38	kelch-like family member 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2300033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564170	Gpr153	G protein-coupled receptor 153	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564170	Gpr153	G protein-coupled receptor 153	gene	DOID:10534	stomach cancer		ISO	RGD:1319513	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564170	Gpr153	G protein-coupled receptor 153	gene	DOID:1909	melanoma		ISO	RGD:1319513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564170	Gpr153	G protein-coupled receptor 153	gene	DOID:4362	cervical cancer		ISO	RGD:1319513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564170	Gpr153	G protein-coupled receptor 153	gene	DOID:5419	schizophrenia		ISO	RGD:1319513	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1564170	Gpr153	G protein-coupled receptor 153	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564170	Gpr153	G protein-coupled receptor 153	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564170	Gpr153	G protein-coupled receptor 153	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1319513	D	RGD:8554872	20151208	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
1564171	Cfap141	cilia and flagella associated protein 141	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564174	Tns3	tensin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564174	Tns3	tensin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564174	Tns3	tensin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564174	Tns3	tensin 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer	
1564174	Tns3	tensin 3	gene	DOID:1115	sarcoma		ISO	RGD:1323398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564174	Tns3	tensin 3	gene	DOID:3275	thymoma		ISO	RGD:1323398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564174	Tns3	tensin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1323398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564174	Tns3	tensin 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564174	Tns3	tensin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564174	Tns3	tensin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564174	Tns3	tensin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564174	Tns3	tensin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564174	Tns3	tensin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564174	Tns3	tensin 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1323398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564175	Ms4a13	membrane spanning 4-domains A13	gene	DOID:10534	stomach cancer		ISO	RGD:1606059	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564175	Ms4a13	membrane spanning 4-domains A13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564175	Ms4a13	membrane spanning 4-domains A13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564175	Ms4a13	membrane spanning 4-domains A13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564178	Gdf3	growth differentiation factor 3	gene	DOID:0060249	scoliosis		ISO	RGD:1345464	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
1564178	Gdf3	growth differentiation factor 3	gene	DOID:0060838	isolated microphthalmia 7		ISO	RGD:1345464	D	RGD:7240710	20130221	OMIM			
1564178	Gdf3	growth differentiation factor 3	gene	DOID:0060838	isolated microphthalmia 7		ISO	RGD:1345464	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Isolated microphthalmia 7 | ClinVar Annotator: match by term: MICROPHTHALMIA, ISOLATED 7	PMID:25741868|PMID:28492532
1564178	Gdf3	growth differentiation factor 3	gene	DOID:0080591	Klippel-Feil syndrome 3		ISO	RGD:1345464	D	RGD:7240710	20130221	OMIM			
1564178	Gdf3	growth differentiation factor 3	gene	DOID:0080591	Klippel-Feil syndrome 3		ISO	RGD:1345464	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant	PMID:25741868|PMID:28492532|PMID:29735971
1564178	Gdf3	growth differentiation factor 3	gene	DOID:10629	microphthalmia		ISO	RGD:1345464	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: microphthalmia	
1564178	Gdf3	growth differentiation factor 3	gene	DOID:1682	congenital heart disease		ISO	RGD:1345464	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: marker/mechanism	PMID:22613031
1564178	Gdf3	growth differentiation factor 3	gene	DOID:9000197	Edema		ISO	RGD:1345464	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: marker/mechanism	PMID:22613031
1564178	Gdf3	growth differentiation factor 3	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1345464	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16168501
1564178	Gdf3	growth differentiation factor 3	gene	DOID:9001685	Isolated Microphthalmia with Coloboma 6		ISO	RGD:1345464	D	RGD:7240710	20130221	OMIM			
1564178	Gdf3	growth differentiation factor 3	gene	DOID:9001685	Isolated Microphthalmia with Coloboma 6		ISO	RGD:1345464	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6	PMID:25741868|PMID:28492532
1564178	Gdf3	growth differentiation factor 3	gene	DOID:9004493	Camptocormia		ISO	RGD:1345464	D	RGD:11554173	20230801	CTD		CTD Direct Evidence: marker/mechanism	PMID:22613031
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:0060668	anencephaly		ISS	RGD:1557284	D	RGD:13592920	20180518	MouseDO		OMIM:206500	
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:0080074	neural tube defect		ISO	RGD:1350048	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15640247
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:1115	sarcoma		ISO	RGD:1350048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:12849	autistic disorder		ISO	RGD:1350048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:1909	melanoma		ISO	RGD:1350048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:4362	cervical cancer		ISO	RGD:1350048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:5041	esophageal cancer		ISO	RGD:1350048	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1350048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:25741868
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350048	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564182	Cecr2	CECR2, histone acetyl-lysine reader	gene	DOID:9296	cleft lip		ISO	RGD:1350048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868
1564186	Elmod1	ELMO domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564186	Elmod1	ELMO domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564186	Elmod1	ELMO domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564186	Elmod1	ELMO domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1349956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564186	Elmod1	ELMO domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1349956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564186	Elmod1	ELMO domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349956	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564186	Elmod1	ELMO domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564186	Elmod1	ELMO domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:0111951	immunodeficiency 40		ISO	RGD:1323174	D	RGD:7240710	20170503	OMIM			
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:0111951	immunodeficiency 40		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DOCK2 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 40 | ClinVar Annotator: match by term: Immunodeficiency 40	PMID:16199547|PMID:17576681|PMID:24825865|PMID:25741868|PMID:26083206|PMID:28492532|PMID:29204803|PMID:36155879|PMID:36836791|PMID:9536098
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:10283	prostate cancer		ISO	RGD:1323174	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:1115	sarcoma		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:1324	lung cancer		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:1909	melanoma		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:3275	thymoma		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:1323174	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23525077
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323174	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:630	genetic disease		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24825865|PMID:25741868|PMID:28492532|PMID:36155879
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323174	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323174	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564189	Dock2	dedicator of cytokinesis 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1323174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1564190	Tlx3	T-cell leukemia, homeobox 3	gene	DOID:0060731	congenital central hypoventilation syndrome		ISS	RGD:1615148	D	RGD:13592920	20180518	MouseDO		OMIM:209880	
1564190	Tlx3	T-cell leukemia, homeobox 3	gene	DOID:1612	breast cancer		ISO	RGD:1353737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1564195	Prrt2	proline-rich transmembrane protein 2	gene	DOID:0081115	benign familial infantile seizures 2		ISO	RGD:1602444	D	RGD:7240710	20130731	OMIM			
1564195	Prrt2	proline-rich transmembrane protein 2	gene	DOID:0081115	benign familial infantile seizures 2		ISO	RGD:1602444	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: Seizures, benign familial infantile, 2	PMID:25741868
1564195	Prrt2	proline-rich transmembrane protein 2	gene	DOID:0090053	episodic kinesigenic dyskinesia 1		ISO	RGD:1602444	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22101681
1564195	Prrt2	proline-rich transmembrane protein 2	gene	DOID:0090053	episodic kinesigenic dyskinesia 1		ISO	RGD:1602444	D	RGD:7240710	20151216	OMIM			
1564195	Prrt2	proline-rich transmembrane protein 2	gene	DOID:0090053	episodic kinesigenic dyskinesia 1		ISO	RGD:1602444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia	PMID:19914906|PMID:24372385|PMID:25421402|PMID:26629640|PMID:26742926|PMID:28492532|PMID:40401013
1564195	Prrt2	proline-rich transmembrane protein 2	gene	DOID:0090053	episodic kinesigenic dyskinesia 1		ISS	RGD:1613176	D	RGD:13592920	20230718	MouseDO		OMIM:128200	
1564195	Prrt2	proline-rich transmembrane protein 2	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1602444	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
1564195	Prrt2	proline-rich transmembrane protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1602444	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1564195	Prrt2	proline-rich transmembrane protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1602444	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:34782754
1564195	Prrt2	proline-rich transmembrane protein 2	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1602444	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Cholestanol storage disease	PMID:25741868|PMID:28492532|PMID:28590052
1564195	Prrt2	proline-rich transmembrane protein 2	gene	DOID:9007283	Familial Infantile Convulsions and Paroxysmal Choreoathetosis		ISO	RGD:1602444	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564195	Prrt2	proline-rich transmembrane protein 2	gene	DOID:9007283	Familial Infantile Convulsions and Paroxysmal Choreoathetosis		ISO	RGD:1602444	D	RGD:7240710	20130731	OMIM			
1564195	Prrt2	proline-rich transmembrane protein 2	gene	DOID:9007283	Familial Infantile Convulsions and Paroxysmal Choreoathetosis		ISO	RGD:1602444	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS	PMID:11179027|PMID:11346027|PMID:16199547|PMID:18414213|PMID:20301633|PMID:21900383|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22623405|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22902309|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23457309|PMID:23551744|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24101679|PMID:24370076|PMID:24465263|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24928127|PMID:25060993|PMID:25167861|PMID:25248169|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:25915028|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:26709262|PMID:27172900|PMID:27173777|PMID:28074849|PMID:28492532|PMID:28906077|PMID:29132464|PMID:29215089|PMID:29334453|PMID:31124310|PMID:31722684|PMID:32651081|PMID:33126486|PMID:33661484|PMID:34041212|PMID:34782754|PMID:34992632|PMID:35428900|PMID:36247910|PMID:36467477|PMID:37476319|PMID:37793168|PMID:37880614|PMID:37884687|PMID:38778723|PMID:39825153
1564195	Prrt2	proline-rich transmembrane protein 2	gene	DOID:9009225	Episodic Kinesigenic Dyskinesia		ISO	RGD:1602444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia	PMID:2131349|PMID:23077026|PMID:23496026|PMID:24609974|PMID:24886244|PMID:28492532|PMID:30980674
1564196	Gpr101	G protein-coupled receptor 101	gene	DOID:0112007	growth hormone secreting pituitary adenoma 2		ISO	RGD:1344763	D	RGD:7240710	20170315	OMIM			
1564196	Gpr101	G protein-coupled receptor 101	gene	DOID:0112007	growth hormone secreting pituitary adenoma 2		ISO	RGD:1344763	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GPR101-related condition | ClinVar Annotator: match by term: PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING | ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2	PMID:25741868|PMID:25806920|PMID:26792934|PMID:27245663|PMID:28492532
1564196	Gpr101	G protein-coupled receptor 101	gene	DOID:6255	growth hormone secreting pituitary adenoma		ISO	RGD:1344763	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	
1564197	Lbx1	ladybird homeobox 1	gene	DOID:9002001	Congenital Central Hypoventilation Syndrome 3		ISO	RGD:1606568	D	RGD:7240710	20211006	OMIM			
1564197	Lbx1	ladybird homeobox 1	gene	DOID:9002001	Congenital Central Hypoventilation Syndrome 3		ISO	RGD:1606568	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3	PMID:25741868
1564197	Lbx1	ladybird homeobox 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606568	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19651985
1564200	Clvs1	clavesin 1	gene	DOID:1115	sarcoma		ISO	RGD:1602646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564200	Clvs1	clavesin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564200	Clvs1	clavesin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564200	Clvs1	clavesin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564200	Clvs1	clavesin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564206	Syde2	synapse defective Rho GTPase homolog 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564206	Syde2	synapse defective Rho GTPase homolog 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564206	Syde2	synapse defective Rho GTPase homolog 2	gene	DOID:1115	sarcoma		ISO	RGD:1602090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564206	Syde2	synapse defective Rho GTPase homolog 2	gene	DOID:1324	lung cancer		ISO	RGD:1602090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564206	Syde2	synapse defective Rho GTPase homolog 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564206	Syde2	synapse defective Rho GTPase homolog 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564206	Syde2	synapse defective Rho GTPase homolog 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:1059	intellectual disability		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28492532|PMID:32778825
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:11830	myopia		ISO	RGD:1344764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17304052|PMID:25333069|PMID:25689098|PMID:25741868|PMID:28492532
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:12849	autistic disorder		ISO	RGD:1344764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:16857760|PMID:17304052|PMID:24635911|PMID:25741868|PMID:28492532|PMID:32778825|PMID:33432785
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:1826	epilepsy		ISO	RGD:1344764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16857760|PMID:17304052|PMID:24635911|PMID:25741868|PMID:28492532|PMID:32778825|PMID:33432785
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:1909	melanoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:630	genetic disease		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16857760|PMID:25741868|PMID:28492532|PMID:30612563|PMID:32778825|PMID:34544473|PMID:34869113|PMID:35154245
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:630	genetic disease		ISO	RGD:1344764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16857760|PMID:17304052|PMID:24635911|PMID:25741868|PMID:28492532|PMID:30612563|PMID:32778825|PMID:33432785|PMID:34544473|PMID:34869113|PMID:35154245
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1344764	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn errors of metabolism	
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1344764	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:9000918	Disease Progression		ISO	RGD:1344764	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:9004345	Isobutyryl-CoA Dehydrogenase Deficiency		ISO	RGD:1344764	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:9004345	Isobutyryl-CoA Dehydrogenase Deficiency		ISO	RGD:1344764	D	RGD:7240710	20130221	OMIM			
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:9004345	Isobutyryl-CoA Dehydrogenase Deficiency		ISO	RGD:1344764	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ACAD8 DEFICIENCY | ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase | ClinVar Annotator: match by term: ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	PMID:12359132|PMID:15505379|PMID:16199547|PMID:16857760|PMID:17304052|PMID:17576681|PMID:17924841|PMID:24635911|PMID:25741868|PMID:28053874|PMID:28492532|PMID:30253142|PMID:30626930|PMID:31813752|PMID:32778825|PMID:33432785|PMID:34544473|PMID:35154245|PMID:36662638|PMID:38784038|PMID:9536098
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:32778825
1564209	Acad8	acyl-CoA dehydrogenase family, member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564211	Styk1	serine/threonine/tyrosine kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1348462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564211	Styk1	serine/threonine/tyrosine kinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564211	Styk1	serine/threonine/tyrosine kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348462	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564211	Styk1	serine/threonine/tyrosine kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564211	Styk1	serine/threonine/tyrosine kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564211	Styk1	serine/threonine/tyrosine kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564211	Styk1	serine/threonine/tyrosine kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564216	Myof	myoferlin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564216	Myof	myoferlin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564216	Myof	myoferlin	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1343142	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome 1	
1564216	Myof	myoferlin	gene	DOID:0080600	COVID-19		ISO	RGD:1343142	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1564216	Myof	myoferlin	gene	DOID:10534	stomach cancer		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564216	Myof	myoferlin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564216	Myof	myoferlin	gene	DOID:1115	sarcoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564216	Myof	myoferlin	gene	DOID:1324	lung cancer		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564216	Myof	myoferlin	gene	DOID:1909	melanoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564216	Myof	myoferlin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564216	Myof	myoferlin	gene	DOID:3070	high grade glioma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564216	Myof	myoferlin	gene	DOID:3275	thymoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564216	Myof	myoferlin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564216	Myof	myoferlin	gene	DOID:4362	cervical cancer		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564216	Myof	myoferlin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564216	Myof	myoferlin	gene	DOID:5041	esophageal cancer		ISO	RGD:1343142	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564216	Myof	myoferlin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564216	Myof	myoferlin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564216	Myof	myoferlin	gene	DOID:9003195	Hereditary Angioedema 7		ISO	RGD:1343142	D	RGD:7240710	20210616	OMIM			
1564216	Myof	myoferlin	gene	DOID:9003195	Hereditary Angioedema 7		ISO	RGD:1343142	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Angioedema, hereditary, 7 | ClinVar Annotator: match by term: MYOF-related condition	PMID:25741868|PMID:28492532
1564216	Myof	myoferlin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564216	Myof	myoferlin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564216	Myof	myoferlin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564216	Myof	myoferlin	gene	DOID:9256	colorectal cancer		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564227	Ankrd33b	ankyrin repeat domain 33B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2307384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564227	Ankrd33b	ankyrin repeat domain 33B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2307384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564227	Ankrd33b	ankyrin repeat domain 33B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2307384	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:0050581	brachydactyly		ISO	RGD:1351904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:37091313
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:0050952	spastic ataxia		ISO	RGD:1351904	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:0110178	Charcot-Marie-Tooth disease axonal type 2V		ISO	RGD:1351904	D	RGD:7240710	20170301	OMIM			
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:0110178	Charcot-Marie-Tooth disease axonal type 2V		ISO	RGD:1351904	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2V | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal type 2V	PMID:10094189|PMID:11153910|PMID:11286389|PMID:11668611|PMID:11793481|PMID:11836372|PMID:12202988|PMID:14984474|PMID:16151907|PMID:16199547|PMID:17576681|PMID:18218046|PMID:20138557|PMID:20852935|PMID:21204211|PMID:21685203|PMID:217121855|PMID:21712855|PMID:21910976|PMID:22908982|PMID:22976768|PMID:23380547|PMID:23661660|PMID:23840811|PMID:25256447|PMID:25466957|PMID:25640679|PMID:25741868|PMID:25818867|PMID:26907177|PMID:27243974|PMID:27590925|PMID:28101780|PMID:28492532|PMID:28751108|PMID:28844463|PMID:29269699|PMID:29606097|PMID:29661560|PMID:29979746|PMID:30070758|PMID:30408744|PMID:30809705|PMID:31069529|PMID:31236806|PMID:31342580|PMID:31718697|PMID:31969655|PMID:32447333|PMID:32578945|PMID:32883051|PMID:33083013|PMID:33246910|PMID:33578874|PMID:33747789|PMID:34347683|PMID:34349725|PMID:34396902|PMID:34440436|PMID:34813777|PMID:35005816|PMID:35525889|PMID:35614200|PMID:36964972|PMID:37091313|PMID:37596900|PMID:8650226|PMID:9443875|PMID:9443878|PMID:9536098|PMID:9832037|PMID:9950362
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:0111394	mucopolysaccharidosis type IIIB		ISO	RGD:1351904	D	RGD:7240710	20191106	OMIM			
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:0111394	mucopolysaccharidosis type IIIB		ISO	RGD:1351904	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIB | ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIB | ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIB (Sanfilippo B) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B	PMID:10094189|PMID:11068184|PMID:11153910|PMID:11286389|PMID:11668611|PMID:11793481|PMID:11836372|PMID:12202988|PMID:14984474|PMID:15300983|PMID:15933803|PMID:16151907|PMID:16199547|PMID:16447797|PMID:17576681|PMID:18218046|PMID:19046346|PMID:20040070|PMID:20852935|PMID:21204211|PMID:21685203|PMID:21712855|PMID:21910976|PMID:21937992|PMID:22002444|PMID:22976768|PMID:23084433|PMID:23100014|PMID:23380547|PMID:23430803|PMID:23661660|PMID:23667853|PMID:23840811|PMID:24314109|PMID:25256447|PMID:25466957|PMID:25520920|PMID:25525159|PMID:25741868|PMID:25818867|PMID:26075876|PMID:26907177|PMID:27243974|PMID:27590925|PMID:28018442|PMID:28101780|PMID:28492532|PMID:28751108|PMID:28836185|PMID:28844463|PMID:29095814|PMID:29269699|PMID:29661560|PMID:29979746|PMID:30070758|PMID:30408610|PMID:30802506|PMID:30809705|PMID:30903511|PMID:31236806|PMID:31319225|PMID:31413257|PMID:31718697|PMID:31969655|PMID:31980526|PMID:32014045|PMID:32447333|PMID:32883051|PMID:32901917|PMID:33083013|PMID:33550137|PMID:33578874|PMID:33747789|PMID:33763395|PMID:34047372|PMID:34255403|PMID:34349725|PMID:34396902|PMID:34440436|PMID:34743503|PMID:34806811|PMID:34813777|PMID:35005816|PMID:35848209|PMID:36468061|PMID:36648562|PMID:37091313|PMID:37596900|PMID:37772257|PMID:38274568|PMID:38277958|PMID:38360210|PMID:38425718|PMID:38488524|PMID:38730490|PMID:38841321|PMID:41071200|PMID:8650226|PMID:9443875|PMID:9443878|PMID:9536098|PMID:9832037|PMID:9950362
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:1059	intellectual disability		ISO	RGD:1351904	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:1059	intellectual disability		ISO	RGD:1351904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:10094189|PMID:14984474|PMID:16151907|PMID:25741868|PMID:28492532|PMID:29606097|PMID:29661560|PMID:8650226|PMID:9443875|PMID:9832037
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:10754	otitis media		ISS	RGD:1623263	D	RGD:13592920	20180518	MouseDO		OMIM:166760	
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:12798	mucopolysaccharidosis		ISO	RGD:1351904	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis | ClinVar Annotator: match by term: mucopolysaccharidosis	PMID:10094189|PMID:18218046|PMID:20040070|PMID:20852935|PMID:25741868|PMID:26907177|PMID:28492532|PMID:28751108|PMID:29979746|PMID:31718697
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1351904	D	RGD:11554173	20191112	CTD		CTD Direct Evidence: marker/mechanism	
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1351904	D	RGD:7241012|PMID:4261742	20130221	RGD		protein:decreased activity:skin fibroblast, liver (human)	
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1351904	D	RGD:7241016|PMID:11136549	20130222	RGD		human protein in mouse model	
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1351904	D	RGD:7241018|PMID:11668611	20130220	RGD		DNA:mutations:multiple (human)	
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1351904	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome	PMID:10094189|PMID:11286389|PMID:11668611|PMID:12202988|PMID:14984474|PMID:15300983|PMID:15933803|PMID:18218046|PMID:20852935|PMID:21204211|PMID:21937992|PMID:22976768|PMID:23380547|PMID:23430803|PMID:23667853|PMID:25520920|PMID:25525159|PMID:25741868|PMID:26907177|PMID:27243974|PMID:27590925|PMID:28492532|PMID:28751108|PMID:28844463|PMID:29269699|PMID:29661560|PMID:29979746|PMID:30070758|PMID:31413257|PMID:31536183|PMID:31969655|PMID:32883051|PMID:33083013|PMID:33747789|PMID:34396902|PMID:8650226|PMID:9443875|PMID:9443878|PMID:9832037|PMID:9950362
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1351904	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency	PMID:10094189|PMID:11286389|PMID:14984474|PMID:16151907|PMID:16199547|PMID:18218046|PMID:20852935|PMID:21204211|PMID:22976768|PMID:25741868|PMID:25818867|PMID:28101780|PMID:28492532|PMID:29661560|PMID:29979746|PMID:30070758|PMID:33083013|PMID:33578874|PMID:33747789|PMID:37091313|PMID:37596900|PMID:8650226|PMID:9443875|PMID:9832037
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1623263	D	RGD:7241013|PMID:10588735	20130222	RGD			
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:12801	mucopolysaccharidosis III		ISS	RGD:1623263	D	RGD:13592920	20230718	MouseDO		OMIM:252940	
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:12802	mucopolysaccharidosis I		ISO	RGD:1351904	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis type 1	PMID:28492532
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:12849	autistic disorder		ISO	RGD:1351904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:20040070|PMID:20852935|PMID:21712855|PMID:25256447|PMID:25741868|PMID:26907177|PMID:28492532|PMID:28751108|PMID:29979746|PMID:31536183|PMID:34743503|PMID:9443875
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:1324	lung cancer		ISO	RGD:1351904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:3275	thymoma		ISO	RGD:1351904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:420	hypertrichosis		ISO	RGD:1351904	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:10094189|PMID:14984474|PMID:16151907|PMID:25741868|PMID:28492532|PMID:29661560|PMID:8650226|PMID:9443875|PMID:9832037
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:4362	cervical cancer		ISO	RGD:1351904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:535	sleep disorder		ISO	RGD:1351904	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:16151907|PMID:25741868|PMID:28492532|PMID:29661560|PMID:35848209|PMID:9443875
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:540	strabismus		ISO	RGD:1351904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:37091313
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:630	genetic disease		ISO	RGD:1351904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34806811
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:9001510	Funnel Chest		ISO	RGD:1351904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:10094189|PMID:25741868|PMID:28492532|PMID:29979746|PMID:33747789|PMID:37091313
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351904	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1351904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:20040070|PMID:20852935|PMID:21712855|PMID:25256447|PMID:25741868|PMID:26907177|PMID:28492532|PMID:28751108|PMID:29979746|PMID:31536183|PMID:34743503|PMID:9443875
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1351904	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:20040070|PMID:20852935|PMID:21712855|PMID:25256447|PMID:25741868|PMID:26907177|PMID:28492532|PMID:28751108|PMID:29979746|PMID:34743503|PMID:9443875
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:9003676	Brain Hypoxia-Ischemia		IEP		D	RGD:152995398|PMID:25720338	20220616	RGD		protein:increased activity:brain:	
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1351904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:37091313
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1351904	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:10094189|PMID:14984474|PMID:16151907|PMID:21204211|PMID:22976768|PMID:25741868|PMID:28492532|PMID:29979746
1564228	Naglu	N-acetyl-alpha-glucosaminidase	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1351904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:10094189|PMID:25741868|PMID:28492532|PMID:29979746|PMID:33747789|PMID:37091313
1564232	Ephb2	Eph receptor B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564232	Ephb2	Eph receptor B2	gene	DOID:0060058	lymphoma		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1564232	Ephb2	Eph receptor B2	gene	DOID:0060673	Peters anomaly		ISO	RGD:1605126	D	RGD:8554872	20170221	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:26893459
1564232	Ephb2	Eph receptor B2	gene	DOID:0080600	COVID-19		ISO	RGD:1605126	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1564232	Ephb2	Eph receptor B2	gene	DOID:10127	cerebral artery occlusion	ameliorates	ISO	RGD:1617631	D	RGD:127285624|PMID:18639535	20210623	RGD			
1564232	Ephb2	Eph receptor B2	gene	DOID:10534	stomach cancer		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564232	Ephb2	Eph receptor B2	gene	DOID:10652	Alzheimer's disease	ameliorates	ISO	RGD:1617631	D	RGD:12859080|PMID:21113149	20210623	RGD			
1564232	Ephb2	Eph receptor B2	gene	DOID:1115	sarcoma		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564232	Ephb2	Eph receptor B2	gene	DOID:12365	malaria		ISO	RGD:1617631	D	RGD:127285023|PMID:25784101	20210616	RGD		mRNA:increased expression:liver	
1564232	Ephb2	Eph receptor B2	gene	DOID:1324	lung cancer		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564232	Ephb2	Eph receptor B2	gene	DOID:1561	cognitive disorder		ISO	RGD:1605126	D	RGD:127285026|PMID:23314923	20210616	RGD		associated with human immunodeficiency virus infectious disease; mRNA:increased expression:Anterior cingulate	
1564232	Ephb2	Eph receptor B2	gene	DOID:1909	melanoma		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564232	Ephb2	Eph receptor B2	gene	DOID:3525	middle cerebral artery infarction		IEP		D	RGD:1642069|PMID:16321245	20210624	RGD		mRNA,protein:increased expression: cortex, cerebral cortex subventricular zone	
1564232	Ephb2	Eph receptor B2	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:1617631	D	RGD:1642069|PMID:16321245	20210624	RGD			
1564232	Ephb2	Eph receptor B2	gene	DOID:4362	cervical cancer		ISO	RGD:1605126	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564232	Ephb2	Eph receptor B2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605126	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564232	Ephb2	Eph receptor B2	gene	DOID:5082	liver cirrhosis	ameliorates	ISO	RGD:1617631	D	RGD:127285023|PMID:25784101	20210616	RGD		associated with malaria;	
1564232	Ephb2	Eph receptor B2	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1605126	D	RGD:127285026|PMID:23314923	20210616	RGD		mRNA:decreased expression:Anterior cingulate	
1564232	Ephb2	Eph receptor B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564232	Ephb2	Eph receptor B2	gene	DOID:8577	ulcerative colitis	ameliorates	IDA		D	RGD:127285641|PMID:33722292	20210624	RGD			
1564232	Ephb2	Eph receptor B2	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:127285804|PMID:12944508	20210630	RGD			
1564232	Ephb2	Eph receptor B2	gene	DOID:9000039	Spinal Cord Injuries	ameliorates	IMP		D	RGD:127285659|PMID:33794069	20210625	RGD			
1564232	Ephb2	Eph receptor B2	gene	DOID:9001240	Peripheral Nerve Injuries		IEP		D	RGD:127285658|PMID:32149862	20210625	RGD		mRNA,protein:increased expression:dorsal root ganglion	
1564232	Ephb2	Eph receptor B2	gene	DOID:9001471	Anorectal Malformations		IEP		D	RGD:127285623|PMID:19302865	20210623	RGD		mRNA,protein:decreased expression:embryonic cloaca, urorectal septum	
1564232	Ephb2	Eph receptor B2	gene	DOID:9004298	Prostate Cancer/Brain Cancer Susceptibility		ISO	RGD:1605126	D	RGD:7240710	20260805	OMIM			
1564232	Ephb2	Eph receptor B2	gene	DOID:9004298	Prostate Cancer/Brain Cancer Susceptibility		ISO	RGD:1605126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Prostate cancer/brain cancer susceptibility	PMID:25741868|PMID:28492532
1564232	Ephb2	Eph receptor B2	gene	DOID:9005834	Ependymomas		ISO	RGD:1605126	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075792
1564232	Ephb2	Eph receptor B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564232	Ephb2	Eph receptor B2	gene	DOID:9007718	Platelet-Type Bleeding Disorder 22		ISO	RGD:1605126	D	RGD:7240710	20260805	OMIM			
1564232	Ephb2	Eph receptor B2	gene	DOID:9007718	Platelet-Type Bleeding Disorder 22		ISO	RGD:1605126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 22 | ClinVar Annotator: match by term: EPHB2-related condition	PMID:25741868|PMID:28492532
1564232	Ephb2	Eph receptor B2	gene	DOID:9008452	Candidemia	exacerbates	ISO	RGD:1617631	D	RGD:127229905|PMID:33685996	20210602	RGD			
1564232	Ephb2	Eph receptor B2	gene	DOID:9008820	Visceral Pain	ameliorates	ISO	RGD:1617631	D	RGD:127285657|PMID:33880135	20210625	RGD			
1564232	Ephb2	Eph receptor B2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564232	Ephb2	Eph receptor B2	gene	DOID:9778	irritable bowel syndrome		IEP		D	RGD:127229906|PMID:31601124	20210602	RGD		associated with trichuriasis;protein:increased expression:colonic muscularis:	
1564232	Ephb2	Eph receptor B2	gene	DOID:9778	irritable bowel syndrome	ameliorates	IMP		D	RGD:127229906|PMID:31601124	20210602	RGD			
1564237	Gpihbp1	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	gene	DOID:0060180	colitis		ISO	RGD:1606107	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colitis	PMID:19304573|PMID:20124439|PMID:21816778|PMID:24614124
1564237	Gpihbp1	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1606107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:21816778|PMID:25741868|PMID:27185325|PMID:28492532|PMID:30352774|PMID:31589614|PMID:31785789|PMID:33223529|PMID:33303402|PMID:35770288|PMID:36978188
1564237	Gpihbp1	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	gene	DOID:0111420	familial GPIHBP1 deficiency		ISO	RGD:1606107	D	RGD:7240710	20170503	OMIM			
1564237	Gpihbp1	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	gene	DOID:0111420	familial GPIHBP1 deficiency		ISO	RGD:1606107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GPIHBP1-related condition | ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE ID | ClinVar Annotator: match by term: Hyperlipoproteinemia, type 1D | ClinVar Annotator: match by term: Hyperlipoproteinemia, type ID	PMID:16199547|PMID:20026666|PMID:21478160|PMID:21816778|PMID:22008945|PMID:22239554|PMID:25387803|PMID:25741868|PMID:27185325|PMID:28492532|PMID:30352774|PMID:31153847|PMID:31589614|PMID:31785789|PMID:33223529|PMID:33303402|PMID:33706081|PMID:35770288|PMID:36978188
1564237	Gpihbp1	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1606107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:21816778|PMID:25741868|PMID:27185325|PMID:28492532|PMID:30352774|PMID:31589614|PMID:31785789|PMID:33223529|PMID:33303402|PMID:35770288|PMID:36978188
1564237	Gpihbp1	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1606107	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:19304573|PMID:20124439|PMID:21816778|PMID:24614124
1564237	Gpihbp1	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564237	Gpihbp1	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1606107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:21816778|PMID:25741868|PMID:27185325|PMID:28492532|PMID:30352774|PMID:31589614|PMID:31785789|PMID:33223529|PMID:33303402|PMID:35770288|PMID:36978188
1564237	Gpihbp1	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1606107	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:21816778|PMID:25741868|PMID:27185325|PMID:28492532|PMID:30352774|PMID:31589614|PMID:31785789|PMID:33223529|PMID:33303402|PMID:35770288|PMID:36978188
1564237	Gpihbp1	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1606107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	
1564241	Zfp846	zinc finger protein 846	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:36947464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564241	Zfp846	zinc finger protein 846	gene	DOID:10534	stomach cancer		ISO	RGD:36947464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564241	Zfp846	zinc finger protein 846	gene	DOID:11054	urinary bladder cancer		ISO	RGD:36947464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564241	Zfp846	zinc finger protein 846	gene	DOID:1909	melanoma		ISO	RGD:36947464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564241	Zfp846	zinc finger protein 846	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:36947464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564241	Zfp846	zinc finger protein 846	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:36947464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564241	Zfp846	zinc finger protein 846	gene	DOID:9003566	Mesothelioma		ISO	RGD:36947464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1564241	Zfp846	zinc finger protein 846	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:36947464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564245	Myl2	myosin light chain 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20191112	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia	PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029
1564245	Myl2	myosin light chain 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy	PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029|PMID:35629155
1564245	Myl2	myosin light chain 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28771489|PMID:28798025|PMID:29099038|PMID:29398688|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30297972|PMID:30403391|PMID:30430732|PMID:31019283|PMID:31127036|PMID:32453731|PMID:33731536|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616
1564245	Myl2	myosin light chain 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26664906|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28771489|PMID:28798025|PMID:29099038|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30430732|PMID:30847666|PMID:31019283|PMID:31127036|PMID:31513939|PMID:31737537|PMID:31980526|PMID:32453731|PMID:32665702|PMID:32880476|PMID:33087929|PMID:33548158|PMID:33673806|PMID:33731536|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616
1564245	Myl2	myosin light chain 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33337957|PMID:33495597|PMID:33548158|PMID:33558530|PMID:33662488|PMID:33673806|PMID:33731536|PMID:34935411|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616
1564245	Myl2	myosin light chain 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy	PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16199547|PMID:16837010|PMID:17576681|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:22260945|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:24992035|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25770245|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26385864|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28855170|PMID:28939701|PMID:28971120|PMID:28991257|PMID:29099038|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29549657|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31315475|PMID:31323898|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:33029862|PMID:33190526|PMID:33297573|PMID:33337957|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33662488|PMID:33731536|PMID:33732734|PMID:33891674|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35993536|PMID:36178741|PMID:36264615|PMID:37093871|PMID:37477868|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:38540378|PMID:38757491|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982
1564245	Myl2	myosin light chain 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:24992035|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25770245|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26385864|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28855170|PMID:28939701|PMID:28971120|PMID:28991257|PMID:29099038|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29549657|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30453078|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31199839|PMID:31315475|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33337957|PMID:33495596|PMID:33495597|PMID:33548158|PMID:33558530|PMID:33662488|PMID:33673806|PMID:33731536|PMID:33732734|PMID:33891674|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35050212|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35993536|PMID:36178741|PMID:36264615|PMID:37093871|PMID:37477868|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:38540378|PMID:38757491|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616
1564245	Myl2	myosin light chain 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11102452|PMID:12668451|PMID:12707239|PMID:14594949|PMID:15706574|PMID:16199547|PMID:17576681|PMID:22958901|PMID:23365102|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25324513|PMID:25351510|PMID:25524337|PMID:25741868|PMID:26656175|PMID:27532257|PMID:27600940|PMID:28492532|PMID:28798025|PMID:28971120|PMID:29687901|PMID:29988065|PMID:30453078|PMID:30588760|PMID:31127036|PMID:32453731|PMID:33495596|PMID:33495597|PMID:33563892|PMID:35629155|PMID:35653365|PMID:36143288|PMID:37093871|PMID:37477868|PMID:37652022|PMID:38757491|PMID:39486665|PMID:40568962|PMID:41357762|PMID:9535554|PMID:9536098
1564245	Myl2	myosin light chain 2	gene	DOID:0051044	infantile-onset myofibrillar myopathy 12 with cardiomyopathy		ISO	RGD:737270	D	RGD:7240710	20210818	OMIM			
1564245	Myl2	myosin light chain 2	gene	DOID:0051044	infantile-onset myofibrillar myopathy 12 with cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	PMID:11102452|PMID:12668451|PMID:12707239|PMID:14594949|PMID:23365102|PMID:24111713|PMID:25324513|PMID:25351510|PMID:25741868|PMID:28492532|PMID:28855170|PMID:29988065|PMID:30847666|PMID:31127036|PMID:32453731|PMID:32600061|PMID:33495597|PMID:33731536|PMID:35629155|PMID:37652022|PMID:38757491|PMID:39486665|PMID:40568962|PMID:9535554
1564245	Myl2	myosin light chain 2	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:737270	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:25741868
1564245	Myl2	myosin light chain 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9241277
1564245	Myl2	myosin light chain 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:1580240|PMID:9535554	20150323	RGD		DNA:missense mutations:exon:p.F18L, p.R58Q (human)	
1564245	Myl2	myosin light chain 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:1580241|PMID:11748309	20150323	RGD		DNA:missense mutations, splice-site mutation:exon, intron:multiple	
1564245	Myl2	myosin light chain 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105|PMID:9535554
1564245	Myl2	myosin light chain 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31315475|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33732734|PMID:34935411|PMID:35026164|PMID:35653365|PMID:35993536|PMID:37652022|PMID:37937776|PMID:8673105|PMID:9535554
1564245	Myl2	myosin light chain 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31315475|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33732734|PMID:34935411|PMID:35026164|PMID:35653365|PMID:35993536|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:8673105|PMID:9535554
1564245	Myl2	myosin light chain 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27532257|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31104103|PMID:31315475|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:35653365|PMID:35993536|PMID:36264615|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:38540378|PMID:8673105|PMID:9535554
1564245	Myl2	myosin light chain 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:21310275|PMID:24033266|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:35993536
1564245	Myl2	myosin light chain 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737270	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30403391|PMID:30430732|PMID:31019283|PMID:8673105|PMID:9535554
1564245	Myl2	myosin light chain 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737270	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16717210|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24842367|PMID:24929957|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:25980907|PMID:25982499|PMID:26002683|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27532257|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31104103|PMID:31315475|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:35653365|PMID:35993536|PMID:36264615|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124|PMID:38540378|PMID:8673105|PMID:9535554
1564245	Myl2	myosin light chain 2	gene	DOID:0110316	hypertrophic cardiomyopathy 10		ISO	RGD:737270	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564245	Myl2	myosin light chain 2	gene	DOID:0110316	hypertrophic cardiomyopathy 10		ISO	RGD:737270	D	RGD:7240710	20130425	OMIM			
1564245	Myl2	myosin light chain 2	gene	DOID:0110316	hypertrophic cardiomyopathy 10		ISO	RGD:737270	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10	PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:18987303|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21520333|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23549607|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24374283|PMID:24793961|PMID:24842367|PMID:24992035|PMID:25031304|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25770245|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26385864|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29247119|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:31983221|PMID:32453731|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33495597|PMID:33500567|PMID:33548158|PMID:33558530|PMID:33673806|PMID:33731536|PMID:33891674|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616
1564245	Myl2	myosin light chain 2	gene	DOID:0110316	hypertrophic cardiomyopathy 10		ISO	RGD:737270	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Familial isolated restrictive cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10	PMID:10494800|PMID:11102452|PMID:11133219|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16837010|PMID:17576681|PMID:18506004|PMID:18987303|PMID:19150977|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21520333|PMID:21723297|PMID:22091967|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23365102|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24793961|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25412762|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25825243|PMID:26074085|PMID:26116789|PMID:26497160|PMID:26664906|PMID:26914223|PMID:27153395|PMID:27378946|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28223422|PMID:28323875|PMID:28492532|PMID:28822653|PMID:28855170|PMID:28971120|PMID:29247119|PMID:29447731|PMID:29463717|PMID:29687901|PMID:29988065|PMID:30297972|PMID:30588760|PMID:30706179|PMID:31127036|PMID:31983221|PMID:32183154|PMID:32453731|PMID:32600061|PMID:33012304|PMID:33139982|PMID:33495597|PMID:33500567|PMID:33563892|PMID:33954932|PMID:35177471|PMID:35629155|PMID:35653365|PMID:36143288|PMID:37093871|PMID:37107598|PMID:37432431|PMID:37652022|PMID:38489124|PMID:38757491|PMID:38837338|PMID:39486665|PMID:40568962|PMID:4942892|PMID:678511|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9742053
1564245	Myl2	myosin light chain 2	gene	DOID:10534	stomach cancer		ISO	RGD:737270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564245	Myl2	myosin light chain 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9527842
1564245	Myl2	myosin light chain 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:11102452|PMID:12668451|PMID:12707239|PMID:14594949|PMID:15706574|PMID:17576681|PMID:18533079|PMID:21823217|PMID:22260945|PMID:22958901|PMID:23283745|PMID:23365102|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25324513|PMID:25351510|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28138913|PMID:28356264|PMID:28492532|PMID:28855170|PMID:28971120|PMID:28991257|PMID:29447731|PMID:29549657|PMID:29687901|PMID:31006259|PMID:31847883|PMID:32453731|PMID:33495597|PMID:33500567|PMID:33563892|PMID:35265679|PMID:35653365|PMID:36143288|PMID:36264615|PMID:37093871|PMID:37107598|PMID:37432431|PMID:37477868|PMID:37652022|PMID:38540378|PMID:38689299|PMID:38757491|PMID:9535554|PMID:9536098
1564245	Myl2	myosin light chain 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18533079|PMID:20173211|PMID:21310275|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23396983|PMID:24033266|PMID:24055113|PMID:24111713|PMID:25524337|PMID:25637381|PMID:25741868|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28855170|PMID:29253866|PMID:30403391|PMID:31019283|PMID:31323898|PMID:31771554
1564245	Myl2	myosin light chain 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532|PMID:29447731|PMID:33954932|PMID:38489124
1564245	Myl2	myosin light chain 2	gene	DOID:1682	congenital heart disease		ISO	RGD:737270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
1564245	Myl2	myosin light chain 2	gene	DOID:9000543	Death		ISO	RGD:737270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Death in early adulthood	PMID:10948063|PMID:11102452|PMID:12404107|PMID:12668451|PMID:14594949|PMID:16076902|PMID:16751284|PMID:17606808|PMID:21310275|PMID:21896538|PMID:24033266|PMID:25324513|PMID:25351510|PMID:25741868|PMID:26497160|PMID:27435932|PMID:27532257|PMID:28138913|PMID:28166811|PMID:28492532|PMID:28771489|PMID:30706179|PMID:30847666|PMID:31513939|PMID:32665702|PMID:32880476|PMID:33087929|PMID:33495596|PMID:33495597|PMID:33548158|PMID:33662488|PMID:33673806|PMID:35050212|PMID:35653365|PMID:8673105|PMID:9724616
1564245	Myl2	myosin light chain 2	gene	DOID:9006030	Infant Death		ISO	RGD:737270	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Death in infancy	PMID:11748309|PMID:12668451|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16837010|PMID:18056765|PMID:18929571|PMID:19035361|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22958901|PMID:23299917|PMID:23343568|PMID:24111713|PMID:24842367|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27435932|PMID:28467684|PMID:28492532|PMID:28518168|PMID:31315475|PMID:33337957|PMID:33558530|PMID:34935411|PMID:35629155|PMID:35653365|PMID:37652022|PMID:37904629|PMID:37937776|PMID:38489124
1564245	Myl2	myosin light chain 2	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:737270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden cardiac arrest	PMID:25741868|PMID:28492532|PMID:28640247|PMID:30297972|PMID:32815737|PMID:37652022
1564249	Strip1	striatin interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564249	Strip1	striatin interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564249	Strip1	striatin interacting protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1352338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1564249	Strip1	striatin interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564249	Strip1	striatin interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564249	Strip1	striatin interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1352338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564249	Strip1	striatin interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1352338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564249	Strip1	striatin interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352338	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564249	Strip1	striatin interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564249	Strip1	striatin interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564249	Strip1	striatin interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564249	Strip1	striatin interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564249	Strip1	striatin interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564249	Strip1	striatin interacting protein 1	gene	DOID:9574	choanal atresia		ISO	RGD:1352338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Choanal atresia	PMID:25741868
1564252	St6galnac5	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564252	St6galnac5	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1352256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1564252	St6galnac5	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564252	St6galnac5	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1352256	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17379860|PMID:17568789
1564253	Fam120c	family with sequence similarity 120 member C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564253	Fam120c	family with sequence similarity 120 member C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564253	Fam120c	family with sequence similarity 120 member C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564253	Fam120c	family with sequence similarity 120 member C	gene	DOID:1324	lung cancer		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564253	Fam120c	family with sequence similarity 120 member C	gene	DOID:1909	melanoma		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564253	Fam120c	family with sequence similarity 120 member C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564253	Fam120c	family with sequence similarity 120 member C	gene	DOID:2394	ovarian cancer		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564253	Fam120c	family with sequence similarity 120 member C	gene	DOID:4362	cervical cancer		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564253	Fam120c	family with sequence similarity 120 member C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564253	Fam120c	family with sequence similarity 120 member C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564253	Fam120c	family with sequence similarity 120 member C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564255	Itpripl2	ITPRIP like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564255	Itpripl2	ITPRIP like 2	gene	DOID:1115	sarcoma		ISO	RGD:1604732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564255	Itpripl2	ITPRIP like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564255	Itpripl2	ITPRIP like 2	gene	DOID:3275	thymoma		ISO	RGD:1604732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564255	Itpripl2	ITPRIP like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564256	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564256	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1342514	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:23056237
1564256	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:289	endometriosis		ISO	RGD:1342514	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:30579999
1564256	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564256	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564256	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342514	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1564256	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:9002801	Recurrence		ISO	RGD:1342514	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:22607768
1564256	Cxcl13	C-X-C motif chemokine ligand 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564257	Smim1	small integral membrane protein 1 (Vel blood group)	gene	DOID:5041	esophageal cancer		ISO	RGD:6767479	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564257	Smim1	small integral membrane protein 1 (Vel blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:6767479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564259	Adgb	androglobin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564259	Adgb	androglobin	gene	DOID:10534	stomach cancer		ISO	RGD:1343309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564259	Adgb	androglobin	gene	DOID:1115	sarcoma		ISO	RGD:1343309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564259	Adgb	androglobin	gene	DOID:5041	esophageal cancer		ISO	RGD:1343309	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564259	Adgb	androglobin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564259	Adgb	androglobin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564259	Adgb	androglobin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564259	Adgb	androglobin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564263	Oip5	Opa interacting protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564263	Oip5	Opa interacting protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1345771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564263	Oip5	Opa interacting protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564263	Oip5	Opa interacting protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1345771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564263	Oip5	Opa interacting protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564265	Ano5	anoctamin 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564265	Ano5	anoctamin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564265	Ano5	anoctamin 5	gene	DOID:0070198	Miyoshi muscular dystrophy		ISO	RGD:1342534	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Miyoshi myopathy	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32367299
1564265	Ano5	anoctamin 5	gene	DOID:0070198	Miyoshi muscular dystrophy		ISO	RGD:1342534	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy	PMID:17576681|PMID:18414213|PMID:24033266|PMID:25741868|PMID:25891276|PMID:26467025|PMID:28492532|PMID:32367299|PMID:37688281|PMID:9536098
1564265	Ano5	anoctamin 5	gene	DOID:0070201	Miyoshi muscular dystrophy 3		ISO	RGD:1342534	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564265	Ano5	anoctamin 5	gene	DOID:0070201	Miyoshi muscular dystrophy 3		ISO	RGD:1342534	D	RGD:11570558|PMID:20096397	20161220	RGD		DNA:duplication, missense mutation:exon:c.191dupA, p.R758C (c.2272C>T) (human)	
1564265	Ano5	anoctamin 5	gene	DOID:0070201	Miyoshi muscular dystrophy 3		ISO	RGD:1342534	D	RGD:7240710	20131030	OMIM			
1564265	Ano5	anoctamin 5	gene	DOID:0070201	Miyoshi muscular dystrophy 3		ISO	RGD:1342534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive ANO5-related disorders | ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 | ClinVar Annotator: match by term: Miyoshi myopathy 3	PMID:17576681|PMID:18414213|PMID:20096397|PMID:21186264|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22980763|PMID:23041008|PMID:23055322|PMID:23193613|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:24033266|PMID:25214167|PMID:25741868|PMID:25802880|PMID:25864073|PMID:25891276|PMID:26467025|PMID:27671536|PMID:27703146|PMID:27854218|PMID:27862037|PMID:28050010|PMID:28440294|PMID:28492532|PMID:29431110|PMID:29970176|PMID:30564623|PMID:30919934|PMID:31350120|PMID:31353849|PMID:31561939|PMID:31862442|PMID:32343762|PMID:32528171|PMID:32925086|PMID:33400223|PMID:33462484|PMID:33496727|PMID:34008892|PMID:35239206|PMID:35563815|PMID:36137979|PMID:36157496|PMID:36913258|PMID:38127101|PMID:39232665|PMID:9536098
1564265	Ano5	anoctamin 5	gene	DOID:0080000	muscular disease		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: muscle disorder	
1564265	Ano5	anoctamin 5	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1342534	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30919934|PMID:31353849|PMID:32112655|PMID:9673985
1564265	Ano5	anoctamin 5	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1342534	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polycystic Kidney disease	PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23606453|PMID:23607914|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30919934|PMID:31353849|PMID:32112655|PMID:9673985
1564265	Ano5	anoctamin 5	gene	DOID:0080600	COVID-19		ISO	RGD:1342534	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1564265	Ano5	anoctamin 5	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1342534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: autosomal recessive limb-girdle muscular dystrophy	PMID:21186264|PMID:22336395|PMID:22499103|PMID:23041008|PMID:23055322|PMID:23606453|PMID:23670307|PMID:24889862|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31353849|PMID:32528171|PMID:32925086|PMID:33496727|PMID:36913258|PMID:39232665
1564265	Ano5	anoctamin 5	gene	DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L		ISO	RGD:1342534	D	RGD:11066746|PMID:23606453	20161220	RGD		DNA:mutations:exon, intron:multiple	
1564265	Ano5	anoctamin 5	gene	DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L		ISO	RGD:1342534	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564265	Ano5	anoctamin 5	gene	DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L		ISO	RGD:1342534	D	RGD:11570558|PMID:20096397	20161220	RGD		DNA:duplication, missense mutation, splice-site mutation:exon:c.191dupA, c.1295C>G, p.G231V (c.692G>T) (human)	
1564265	Ano5	anoctamin 5	gene	DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L		ISO	RGD:1342534	D	RGD:11570561|PMID:22742934	20161220	RGD		DNA:duplications, nonsense mutation, missense mutation:exon:multiple	
1564265	Ano5	anoctamin 5	gene	DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L		ISO	RGD:1342534	D	RGD:7240710	20130731	OMIM			
1564265	Ano5	anoctamin 5	gene	DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L		ISO	RGD:1342534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21186264|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22527239|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23047743|PMID:23055322|PMID:23169617|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:24022920|PMID:24033266|PMID:25214167|PMID:25640679|PMID:25741868|PMID:25802880|PMID:25864073|PMID:25891276|PMID:25898921|PMID:26404900|PMID:26467025|PMID:26667038|PMID:27066573|PMID:27541832|PMID:27671536|PMID:27703146|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27884173|PMID:27911336|PMID:28050010|PMID:28176803|PMID:28440294|PMID:28492532|PMID:28781516|PMID:29382405|PMID:29792937|PMID:29970176|PMID:30554457|PMID:30564623|PMID:30715372|PMID:30919934|PMID:31353849|PMID:31395899|PMID:31517061|PMID:31791368|PMID:31862442|PMID:32112655|PMID:32337335|PMID:32343762|PMID:32367299|PMID:32403337|PMID:32528171|PMID:32819793|PMID:32925086|PMID:33023636|PMID:33400223|PMID:33462484|PMID:33496727|PMID:34145687|PMID:34426522|PMID:34440373|PMID:34550615|PMID:34687219|PMID:35239206|PMID:35463132|PMID:35563815|PMID:35628876|PMID:35741838|PMID:36137979|PMID:36157496|PMID:36352632|PMID:36913258|PMID:37510298|PMID:37526466|PMID:39232665|PMID:39678382|PMID:9536098
1564265	Ano5	anoctamin 5	gene	DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L		ISS	RGD:1557613	D	RGD:13592920	20230718	MouseDO		OMIM:611307	
1564265	Ano5	anoctamin 5	gene	DOID:0111338	isolated elevated serum creatine phosphokinase levels		ISO	RGD:1342534	D	RGD:11570564|PMID:23055322	20161220	RGD		DNA:missense mutations:exon:p.Y673C (c.2018A>G), p.R58W (c.172C>T) (human)	
1564265	Ano5	anoctamin 5	gene	DOID:0111533	gnathodiaphyseal dysplasia		ISO	RGD:1342534	D	RGD:11570556|PMID:23047743	20161220	RGD		DNA:missense mutation:exon:p.T513I (c.1538C>T) (human)	
1564265	Ano5	anoctamin 5	gene	DOID:0111533	gnathodiaphyseal dysplasia		ISO	RGD:1342534	D	RGD:11570566|PMID:15124103	20161220	RGD		DNA:missense mutations:exon:p.C356R, p.C356G (human)	
1564265	Ano5	anoctamin 5	gene	DOID:0111533	gnathodiaphyseal dysplasia		ISO	RGD:1342534	D	RGD:7240710	20130731	OMIM			
1564265	Ano5	anoctamin 5	gene	DOID:0111533	gnathodiaphyseal dysplasia		ISO	RGD:1342534	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia	PMID:15124103|PMID:16199547|PMID:17008331|PMID:17132147|PMID:17576681|PMID:18414213|PMID:20096397|PMID:20692837|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23047743|PMID:23169617|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24239059|PMID:24803842|PMID:24843231|PMID:25046369|PMID:25135358|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26404900|PMID:26436962|PMID:26467025|PMID:26809617|PMID:26810512|PMID:26838040|PMID:26886200|PMID:26911675|PMID:27066573|PMID:27447704|PMID:27541832|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27884173|PMID:27911336|PMID:28176803|PMID:28187523|PMID:28489263|PMID:28492532|PMID:28888072|PMID:29124309|PMID:29382405|PMID:29431110|PMID:29792937|PMID:30564623|PMID:30919934|PMID:31127727|PMID:31341644|PMID:31350120|PMID:31353849|PMID:31395899|PMID:31475473|PMID:31517061|PMID:31561939|PMID:31589614|PMID:31791368|PMID:31862442|PMID:31931849|PMID:32112655|PMID:32367299|PMID:32399949|PMID:32403337|PMID:32419263|PMID:32528171|PMID:32819793|PMID:32925086|PMID:33023636|PMID:33400223|PMID:33496727|PMID:33963534|PMID:34008892|PMID:34106991|PMID:34426522|PMID:34440373|PMID:35239206|PMID:3530687|PMID:35563815|PMID:35628876|PMID:35741838|PMID:36157496|PMID:36292621|PMID:36352632|PMID:36913258|PMID:37526466|PMID:37688281|PMID:5816667|PMID:9536098|PMID:9673985
1564265	Ano5	anoctamin 5	gene	DOID:0111533	gnathodiaphyseal dysplasia		ISO	RGD:1342534	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions	PMID:15124103|PMID:16199547|PMID:17008331|PMID:17132147|PMID:17576681|PMID:18414213|PMID:20096397|PMID:20692837|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22527239|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23047743|PMID:23169617|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24239059|PMID:24803842|PMID:24843231|PMID:25046369|PMID:25135358|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25864073|PMID:25866257|PMID:25891276|PMID:26404900|PMID:26436962|PMID:26467025|PMID:26809617|PMID:26810512|PMID:26838040|PMID:26886200|PMID:26911675|PMID:27066573|PMID:27068316|PMID:27216912|PMID:27447704|PMID:27541832|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27884173|PMID:27911336|PMID:28176803|PMID:28187523|PMID:28489263|PMID:28492532|PMID:28888072|PMID:29124309|PMID:29382405|PMID:29431110|PMID:29792937|PMID:30564623|PMID:30919934|PMID:31127727|PMID:31341644|PMID:31350120|PMID:31353849|PMID:31395899|PMID:31475473|PMID:31517061|PMID:31561939|PMID:31589614|PMID:31791368|PMID:31862442|PMID:31931849|PMID:32112655|PMID:32367299|PMID:32399949|PMID:32403337|PMID:32419263|PMID:32528171|PMID:32646536|PMID:32819793|PMID:32925086|PMID:33023636|PMID:33400223|PMID:33496727|PMID:33963534|PMID:34008892|PMID:34106991|PMID:34145687|PMID:34426522|PMID:34440373|PMID:34550615|PMID:34687219|PMID:34902613|PMID:35032046|PMID:35239206|PMID:3530687|PMID:35463132|PMID:35563815|PMID:35628876|PMID:35741838|PMID:36157496|PMID:36292621|PMID:36352632|PMID:36913258|PMID:37526466|PMID:37688281|PMID:38374194|PMID:38544359|PMID:5816667|PMID:9397016|PMID:9536098|PMID:9673985
1564265	Ano5	anoctamin 5	gene	DOID:0111533	gnathodiaphyseal dysplasia		ISO	RGD:1342534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GNATHODIAPHYSEAL DYSPLASIA | ClinVar Annotator: match by term: GNATHODIAPHYSEAL SCLEROSIS | ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21186264|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23047743|PMID:23055322|PMID:23193613|PMID:23606453|PMID:23607914|PMID:23670307|PMID:24022920|PMID:24033266|PMID:24239059|PMID:25214167|PMID:25741868|PMID:25802880|PMID:25864073|PMID:25891276|PMID:25898921|PMID:26404900|PMID:26467025|PMID:26667038|PMID:27671536|PMID:27703146|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27884173|PMID:28050010|PMID:28440294|PMID:28492532|PMID:28781516|PMID:29792937|PMID:29970176|PMID:30554457|PMID:30564623|PMID:30715372|PMID:30919934|PMID:31353849|PMID:31517061|PMID:31862442|PMID:32337335|PMID:32343762|PMID:32367299|PMID:32403337|PMID:32528171|PMID:32819793|PMID:32925086|PMID:33023636|PMID:33400223|PMID:33462484|PMID:33496727|PMID:33818761|PMID:34426522|PMID:34440373|PMID:34687219|PMID:35239206|PMID:35563815|PMID:36137979|PMID:36157496|PMID:36352632|PMID:36913258|PMID:37510298|PMID:37526466|PMID:39232665|PMID:39678382|PMID:9536098
1564265	Ano5	anoctamin 5	gene	DOID:0111533	gnathodiaphyseal dysplasia		ISS	RGD:1557613	D	RGD:13592920	20230718	MouseDO		OMIM:166260	
1564265	Ano5	anoctamin 5	gene	DOID:10534	stomach cancer		ISO	RGD:1342534	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1564265	Ano5	anoctamin 5	gene	DOID:1115	sarcoma		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564265	Ano5	anoctamin 5	gene	DOID:11720	distal myopathy		ISO	RGD:1342534	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:22499103|PMID:25741868|PMID:25891276|PMID:26886200|PMID:27447704|PMID:27911336|PMID:28492532|PMID:30564623|PMID:30919934
1564265	Ano5	anoctamin 5	gene	DOID:11720	distal myopathy		ISO	RGD:1342534	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:22499103|PMID:25741868|PMID:26886200|PMID:27447704|PMID:27911336|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655
1564265	Ano5	anoctamin 5	gene	DOID:11720	distal myopathy		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:22499103|PMID:25741868|PMID:27447704|PMID:28492532|PMID:30919934|PMID:34106991
1564265	Ano5	anoctamin 5	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:25741868|PMID:28492532|PMID:31395899|PMID:31690835
1564265	Ano5	anoctamin 5	gene	DOID:11830	myopia		ISO	RGD:1342534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:21186264|PMID:23606453|PMID:25741868|PMID:25891276|PMID:27862037|PMID:28492532|PMID:30919934
1564265	Ano5	anoctamin 5	gene	DOID:423	myopathy		ISO	RGD:1342534	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:28492532
1564265	Ano5	anoctamin 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1342534	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1564265	Ano5	anoctamin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564265	Ano5	anoctamin 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564265	Ano5	anoctamin 5	gene	DOID:630	genetic disease		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1564265	Ano5	anoctamin 5	gene	DOID:7998	hyperthyroidism		ISO	RGD:1342534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:21186264|PMID:23606453|PMID:25741868|PMID:25891276|PMID:27862037|PMID:28492532|PMID:30919934
1564265	Ano5	anoctamin 5	gene	DOID:9000727	Syncope		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:28492532
1564265	Ano5	anoctamin 5	gene	DOID:9003760	Myalgia		ISO	RGD:1342534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:22336395|PMID:22499103|PMID:23041008|PMID:23055322|PMID:23670307|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:27671536|PMID:27854218|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31353849|PMID:32528171|PMID:32925086|PMID:33496727|PMID:36913258|PMID:39232665
1564265	Ano5	anoctamin 5	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:28492532
1564265	Ano5	anoctamin 5	gene	DOID:9004538	Hearing Loss		ISO	RGD:1342534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:22336395|PMID:22499103|PMID:23041008|PMID:23055322|PMID:23670307|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:27671536|PMID:27854218|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31353849|PMID:32528171|PMID:32925086|PMID:33496727|PMID:36913258|PMID:39232665
1564265	Ano5	anoctamin 5	gene	DOID:9004866	Ataxia		ISO	RGD:1342534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:22336395|PMID:22499103|PMID:23041008|PMID:23055322|PMID:23670307|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:27671536|PMID:27854218|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31353849|PMID:32528171|PMID:32925086|PMID:33496727|PMID:36913258|PMID:39232665
1564265	Ano5	anoctamin 5	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:28492532
1564265	Ano5	anoctamin 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564265	Ano5	anoctamin 5	gene	DOID:9008385	Vomiting		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:28492532
1564265	Ano5	anoctamin 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564265	Ano5	anoctamin 5	gene	DOID:9351	diabetes mellitus		ISO	RGD:1342534	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:22336395|PMID:22499103|PMID:23041008|PMID:23055322|PMID:23670307|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:27671536|PMID:27854218|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31353849|PMID:32528171|PMID:32925086|PMID:33496727|PMID:36913258|PMID:39232665
1564267	Tmc7	transmembrane channel-like 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564267	Tmc7	transmembrane channel-like 7	gene	DOID:10534	stomach cancer		ISO	RGD:1344679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564267	Tmc7	transmembrane channel-like 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564267	Tmc7	transmembrane channel-like 7	gene	DOID:1115	sarcoma		ISO	RGD:1344679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564267	Tmc7	transmembrane channel-like 7	gene	DOID:1324	lung cancer		ISO	RGD:1344679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564267	Tmc7	transmembrane channel-like 7	gene	DOID:1909	melanoma		ISO	RGD:1344679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564267	Tmc7	transmembrane channel-like 7	gene	DOID:4362	cervical cancer		ISO	RGD:1344679	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564267	Tmc7	transmembrane channel-like 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564267	Tmc7	transmembrane channel-like 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564267	Tmc7	transmembrane channel-like 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1344679	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564267	Tmc7	transmembrane channel-like 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564267	Tmc7	transmembrane channel-like 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564267	Tmc7	transmembrane channel-like 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564271	Sertad3	SERTA domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1603398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564271	Sertad3	SERTA domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564271	Sertad3	SERTA domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564271	Sertad3	SERTA domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564271	Sertad3	SERTA domain containing 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1564272	Tarm1	T cell-interacting, activating receptor on myeloid cells 1	gene	DOID:3275	thymoma		ISO	RGD:3399181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564272	Tarm1	T cell-interacting, activating receptor on myeloid cells 1	gene	DOID:5041	esophageal cancer		ISO	RGD:3399181	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564281	Zdhhc11	zDHHC palmitoyltransferase 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564281	Zdhhc11	zDHHC palmitoyltransferase 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564281	Zdhhc11	zDHHC palmitoyltransferase 11	gene	DOID:1324	lung cancer		ISO	RGD:1343630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564281	Zdhhc11	zDHHC palmitoyltransferase 11	gene	DOID:4362	cervical cancer		ISO	RGD:1343630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564281	Zdhhc11	zDHHC palmitoyltransferase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564281	Zdhhc11	zDHHC palmitoyltransferase 11	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1564281	Zdhhc11	zDHHC palmitoyltransferase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564281	Zdhhc11	zDHHC palmitoyltransferase 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564281	Zdhhc11	zDHHC palmitoyltransferase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564281	Zdhhc11	zDHHC palmitoyltransferase 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564286	Moxd2	monooxygenase, DBH-like 2	gene	DOID:10763	hypertension		ISO	RGD:1558176	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:3814904
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:0060058	lymphoma		ISO	RGD:1350234	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:1115	sarcoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:1324	lung cancer		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:1909	melanoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564287	Osbpl3	oxysterol binding protein-like 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564289	Scml2	Scm polycomb group protein like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564289	Scml2	Scm polycomb group protein like 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:1352337	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
1564289	Scml2	Scm polycomb group protein like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564289	Scml2	Scm polycomb group protein like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564289	Scml2	Scm polycomb group protein like 2	gene	DOID:1909	melanoma		ISO	RGD:1352337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564289	Scml2	Scm polycomb group protein like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564289	Scml2	Scm polycomb group protein like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1352337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564289	Scml2	Scm polycomb group protein like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564289	Scml2	Scm polycomb group protein like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:0050591	tooth agenesis		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypodontia	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:0060238	Van Maldergem syndrome		ISO	RGD:1342504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056717
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:0060238	Van Maldergem syndrome		ISO	RGD:1342504	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Van Maldergem syndrome	PMID:24033266|PMID:24056717|PMID:24913602|PMID:28492532
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:0060260	ptosis		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:0060321	umbilical hernia		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:0060366	Hennekam syndrome		ISO	RGD:1342504	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:0060673	Peters anomaly		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:26893459|PMID:28492532|PMID:28714244
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1342504	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract	PMID:25741868|PMID:28492532|PMID:28878612|PMID:30143558
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:0080586	Van Maldergem syndrome 2		ISO	RGD:1342504	D	RGD:7240710	20140911	OMIM			
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:0080586	Van Maldergem syndrome 2		ISO	RGD:1342504	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: VAN MALDERGEM SYNDROME 2 | ClinVar Annotator: match by term: Van Maldergem syndrome 2	PMID:24056717|PMID:24913602|PMID:25741868|PMID:28492532|PMID:28878612|PMID:30143558|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:10488	imperforate anus		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:10907	microcephaly		ISO	RGD:1342504	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:1115	sarcoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:11383	cryptorchidism		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:28492532|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:1686	glaucoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28492532|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:1909	melanoma		ISO	RGD:1342504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22197931
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:1909	melanoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:2975	cystic kidney disease		ISO	RGD:1342504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18604206
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:299	adenocarcinoma		ISO	RGD:1342504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22484628
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:28492532
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:3144	cutis laxa		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868|PMID:28492532|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:3275	thymoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1342504	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:4977	lymphedema		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1342504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:6132	bronchitis		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent bronchitis	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:630	genetic disease		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Disorder | ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:674	cleft palate		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:83	cataract		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1342504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22484628
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9000495	Tremor		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9001031	Retrognathia		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9001947	Hennekam Lymphangiectasia-Lymphedema Syndrome 2		ISO	RGD:1342504	D	RGD:7240710	20150701	OMIM			
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9001947	Hennekam Lymphangiectasia-Lymphedema Syndrome 2		ISO	RGD:1342504	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 | ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2	PMID:25741868|PMID:28492532|PMID:28878612|PMID:29302074|PMID:30143558
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868|PMID:28492532|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9002205	Periventricular Nodular Heterotopia 2		ISO	RGD:1342504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056717
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9003133	Hypertelorism		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868|PMID:28492532|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9003821	Hennekam Lymphangiectasia-Lymphedema Syndrome 1		ISO	RGD:1342504	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1	PMID:25741868
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532|PMID:28878612|PMID:30143558
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9005077	Joint Instability		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:25741868|PMID:28492532|PMID:28878612|PMID:30143558|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:28492532|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9005616	Micrognathism		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Right ventricular hypertrophy	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9008660	Infantile Capillary Hemangioma		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary infantile hemangioma	PMID:25741868
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28492532|PMID:31384091
1564291	Fat4	FAT atypical cadherin 4	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1342504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	
1564300	Pstk	phosphoseryl-tRNA kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564300	Pstk	phosphoseryl-tRNA kinase	gene	DOID:1115	sarcoma		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564300	Pstk	phosphoseryl-tRNA kinase	gene	DOID:1324	lung cancer		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564300	Pstk	phosphoseryl-tRNA kinase	gene	DOID:1909	melanoma		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564300	Pstk	phosphoseryl-tRNA kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564300	Pstk	phosphoseryl-tRNA kinase	gene	DOID:3275	thymoma		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564300	Pstk	phosphoseryl-tRNA kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564300	Pstk	phosphoseryl-tRNA kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564300	Pstk	phosphoseryl-tRNA kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564308	Cfap96	cilia and flagella associated protein 96	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2298813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564308	Cfap96	cilia and flagella associated protein 96	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:40903117	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:25741868|PMID:28492532|PMID:33473208
1564308	Cfap96	cilia and flagella associated protein 96	gene	DOID:1059	intellectual disability		ISO	RGD:2298813	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:12750988|PMID:16420521|PMID:25741868|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30230413|PMID:33473208|PMID:34746046|PMID:9312167
1564308	Cfap96	cilia and flagella associated protein 96	gene	DOID:1059	intellectual disability		ISO	RGD:2298813	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:28492532|PMID:33473208
1564308	Cfap96	cilia and flagella associated protein 96	gene	DOID:5041	esophageal cancer		ISO	RGD:2298813	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564308	Cfap96	cilia and flagella associated protein 96	gene	DOID:9256	colorectal cancer		ISO	RGD:2298813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:0111156	spermatogenic failure 9		ISO	RGD:1606928	D	RGD:7240710	20140903	OMIM			
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:0111156	spermatogenic failure 9		ISO	RGD:1606928	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 9 | ClinVar Annotator: match by term: Spermatogenic failure 9 | ClinVar Annotator: match by term: spermatogenic failure 9	PMID:21397064|PMID:22627659|PMID:22653751|PMID:25741868|PMID:28492532|PMID:32582379
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:0112312	male infertility due to globozoospermia		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Globozoospermia	PMID:25741868
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:1115	sarcoma		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:3275	thymoma		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606928	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:630	genetic disease		ISO	RGD:1606928	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564311	Dpy19l2	dpy-19 like 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564315	Nipal2	NIPA-like domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564315	Nipal2	NIPA-like domain containing 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564315	Nipal2	NIPA-like domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564315	Nipal2	NIPA-like domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564315	Nipal2	NIPA-like domain containing 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605636	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1347158	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:0110034	X-linked Alport syndrome		ISO	RGD:1347158	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: X-linked Alport syndrome	PMID:12244320|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:1347158	D	RGD:2306127|PMID:17903305	20090320	RGD		DNA:SNPs	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:1107	esophageal carcinoma		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carcinoma of esophagus	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:26046366
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:1347158	D	RGD:2306130|PMID:14664792	20090320	RGD			
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:1557852	D	RGD:1582314|PMID:15567863	20090320	RGD			
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:1557852	D	RGD:1582669|PMID:9069289	20061116	RGD			
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1347158	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1347158	D	RGD:5490168|PMID:19635508	20200527	RGD		mRNA:increased expression:lung (human)	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:3275	thymoma		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347158	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:783	end stage renal disease		ISO	RGD:1347158	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19878707
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347158	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16998812
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1557852	D	RGD:2306128|PMID:17510407	20090320	RGD			
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:9003023	Heart Rupture, Post-Infarction		ISO	RGD:1557852	D	RGD:2306129|PMID:17389263	20090320	RGD			
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347158	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:12244320|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347158	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:12244320|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:9007102	Myocardial Ischemia	disease_progression	ISO	RGD:1347158	D	RGD:2306126|PMID:17945237	20090320	RGD		mRNA:increased expression:blood, mononuclear cell	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:9008622	Adrenal Insufficiency		IEP		D	RGD:632527144|PMID:22081818	20260223	RGD		associated with lung injury; mRNA:decreased expression:lung	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1347158	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1347158	D	RGD:7240710	20141015	OMIM			
1564316	Msr1	macrophage scavenger receptor 1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1347158	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA | ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: MSR1-related condition	PMID:12244320|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532
1564322	Cimap1b	ciliary microtubule associated protein 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564322	Cimap1b	ciliary microtubule associated protein 1B	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1606628	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1564322	Cimap1b	ciliary microtubule associated protein 1B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564322	Cimap1b	ciliary microtubule associated protein 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1606628	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564322	Cimap1b	ciliary microtubule associated protein 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564322	Cimap1b	ciliary microtubule associated protein 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564330	Pram1	PML-RARA regulated adaptor molecule 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564330	Pram1	PML-RARA regulated adaptor molecule 1	gene	DOID:3275	thymoma		ISO	RGD:1604582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564330	Pram1	PML-RARA regulated adaptor molecule 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564330	Pram1	PML-RARA regulated adaptor molecule 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564330	Pram1	PML-RARA regulated adaptor molecule 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564330	Pram1	PML-RARA regulated adaptor molecule 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564335	Sybu	syntabulin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564335	Sybu	syntabulin	gene	DOID:0060058	lymphoma		ISO	RGD:1604347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1564335	Sybu	syntabulin	gene	DOID:10534	stomach cancer		ISO	RGD:1604347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564335	Sybu	syntabulin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564335	Sybu	syntabulin	gene	DOID:1115	sarcoma		ISO	RGD:1604347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564335	Sybu	syntabulin	gene	DOID:1909	melanoma		ISO	RGD:1604347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564335	Sybu	syntabulin	gene	DOID:3275	thymoma		ISO	RGD:1604347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564335	Sybu	syntabulin	gene	DOID:4362	cervical cancer		ISO	RGD:1604347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564335	Sybu	syntabulin	gene	DOID:5041	esophageal cancer		ISO	RGD:1604347	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564335	Sybu	syntabulin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564335	Sybu	syntabulin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564335	Sybu	syntabulin	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1564335	Sybu	syntabulin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564335	Sybu	syntabulin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564337	Coa3	cytochrome C oxidase assembly factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564337	Coa3	cytochrome C oxidase assembly factor 3	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1606307	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:25604084|PMID:28492532|PMID:36344503
1564337	Coa3	cytochrome C oxidase assembly factor 3	gene	DOID:0070499	mitochondrial complex IV deficiency nuclear type 14		ISO	RGD:1606307	D	RGD:7240710	20201111	OMIM			
1564337	Coa3	cytochrome C oxidase assembly factor 3	gene	DOID:0070499	mitochondrial complex IV deficiency nuclear type 14		ISO	RGD:1606307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COA3-related condition | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 14	PMID:25741868|PMID:28492532
1564337	Coa3	cytochrome C oxidase assembly factor 3	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1606307	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1564340	Fndc11	fibronectin type III domain containing 11	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1601971	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
1564340	Fndc11	fibronectin type III domain containing 11	gene	DOID:1909	melanoma		ISO	RGD:1601971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564340	Fndc11	fibronectin type III domain containing 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1601971	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564340	Fndc11	fibronectin type III domain containing 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564342	Nek10	NIMA-related kinase 10	gene	DOID:0111851	primary ciliary dyskinesia 44		ISO	RGD:1350326	D	RGD:7240710	20200318	OMIM			
1564342	Nek10	NIMA-related kinase 10	gene	DOID:0111851	primary ciliary dyskinesia 44		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 44 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 44	PMID:25741868
1564342	Nek10	NIMA-related kinase 10	gene	DOID:10534	stomach cancer		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
1564342	Nek10	NIMA-related kinase 10	gene	DOID:1115	sarcoma		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564342	Nek10	NIMA-related kinase 10	gene	DOID:1324	lung cancer		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564342	Nek10	NIMA-related kinase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564342	Nek10	NIMA-related kinase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564342	Nek10	NIMA-related kinase 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564342	Nek10	NIMA-related kinase 10	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:25741868
1564353	Nup62cl	nucleoporin 62 C-terminal like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564353	Nup62cl	nucleoporin 62 C-terminal like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564353	Nup62cl	nucleoporin 62 C-terminal like	gene	DOID:4362	cervical cancer		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564353	Nup62cl	nucleoporin 62 C-terminal like	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1564353	Nup62cl	nucleoporin 62 C-terminal like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564353	Nup62cl	nucleoporin 62 C-terminal like	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1564353	Nup62cl	nucleoporin 62 C-terminal like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564353	Nup62cl	nucleoporin 62 C-terminal like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564356	Cers3	ceramide synthase 3	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1319080	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:28875980|PMID:30578701|PMID:33492757
1564356	Cers3	ceramide synthase 3	gene	DOID:0060718	autosomal recessive congenital ichthyosis 9		ISO	RGD:1319080	D	RGD:7240710	20140911	OMIM			
1564356	Cers3	ceramide synthase 3	gene	DOID:0060718	autosomal recessive congenital ichthyosis 9		ISO	RGD:1319080	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 | ClinVar Annotator: match by term: CERS3-related condition | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 | ClinVar Annotator: match by term: autosomal recessive congenital ichthyosis 9	PMID:25741868|PMID:28492532
1564356	Cers3	ceramide synthase 3	gene	DOID:10283	prostate cancer		ISO	RGD:1319080	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1564356	Cers3	ceramide synthase 3	gene	DOID:10283	prostate cancer		ISO	RGD:1319080	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1564356	Cers3	ceramide synthase 3	gene	DOID:1115	sarcoma		ISO	RGD:1319080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564356	Cers3	ceramide synthase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564356	Cers3	ceramide synthase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564356	Cers3	ceramide synthase 3	gene	DOID:630	genetic disease		ISO	RGD:1319080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1564357	Igsf23	immunoglobulin superfamily, member 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:5132191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:0080790	Treacher Collins syndrome 2		ISO	RGD:1343756	D	RGD:7240710	20200708	OMIM			
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:0080790	Treacher Collins syndrome 2		ISO	RGD:1343756	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POLR1D-related condition | ClinVar Annotator: match by term: TREACHER COLLINS SYNDROME 2 | ClinVar Annotator: match by term: Treacher Collins syndrome 2	PMID:21131976|PMID:25741868|PMID:25790162|PMID:28492532|PMID:34397304
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:1115	sarcoma		ISO	RGD:1343756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:2908	Treacher Collins syndrome		ISO	RGD:1343756	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Treacher Collins syndrome	
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:303	substance-related disorder		ISO	RGD:1343756	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1343756	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:630	genetic disease		ISO	RGD:1343756	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:9004538	Hearing Loss		ISO	RGD:1343756	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1343756	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:9008003	Mandibulofacial Dysostosis		ISO	RGD:1343756	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21131976
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:9008003	Mandibulofacial Dysostosis		ISO	RGD:1343756	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Treacher Collins-Franceschetti syndrome	
1564358	Polr1d	RNA polymerase I and III subunit D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564359	Map4	microtubule-associated protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564359	Map4	microtubule-associated protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564359	Map4	microtubule-associated protein 4	gene	DOID:0060165	Kleine-Levin syndrome		ISO	RGD:1343248	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Kleine-Levin syndrome	
1564359	Map4	microtubule-associated protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564359	Map4	microtubule-associated protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564359	Map4	microtubule-associated protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564359	Map4	microtubule-associated protein 4	gene	DOID:1909	melanoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564359	Map4	microtubule-associated protein 4	gene	DOID:3070	high grade glioma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564359	Map4	microtubule-associated protein 4	gene	DOID:3275	thymoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564359	Map4	microtubule-associated protein 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564359	Map4	microtubule-associated protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1564359	Map4	microtubule-associated protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1564359	Map4	microtubule-associated protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1343248	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1564359	Map4	microtubule-associated protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1564359	Map4	microtubule-associated protein 4	gene	DOID:9004657	Weight Gain		ISO	RGD:1343248	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1564359	Map4	microtubule-associated protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564359	Map4	microtubule-associated protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1564359	Map4	microtubule-associated protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1564360	Pax7	paired box 7	gene	DOID:0081351	congenital myopathy 19		ISO	RGD:1604064	D	RGD:7240710	20191016	OMIM			
1564360	Pax7	paired box 7	gene	DOID:0081351	congenital myopathy 19		ISO	RGD:1604064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 19 | ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis | ClinVar Annotator: match by term: PAX7-related condition	PMID:25741868|PMID:31092906|PMID:32214227
1564360	Pax7	paired box 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564360	Pax7	paired box 7	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1604064	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564360	Pax7	paired box 7	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1604064	D	RGD:7240710	20130221	OMIM			
1564360	Pax7	paired box 7	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1604064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma	PMID:25741868
1564360	Pax7	paired box 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564360	Pax7	paired box 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564360	Pax7	paired box 7	gene	DOID:6741	bilateral breast cancer		ISO	RGD:1604064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: bilateral breast cancer	PMID:25741868
1564360	Pax7	paired box 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564361	Slc35a5	solute carrier family 35, member A5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564361	Slc35a5	solute carrier family 35, member A5	gene	DOID:0080600	COVID-19		ISO	RGD:1344135	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1564361	Slc35a5	solute carrier family 35, member A5	gene	DOID:1115	sarcoma		ISO	RGD:1344135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564361	Slc35a5	solute carrier family 35, member A5	gene	DOID:1324	lung cancer		ISO	RGD:1344135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564361	Slc35a5	solute carrier family 35, member A5	gene	DOID:5041	esophageal cancer		ISO	RGD:1344135	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564361	Slc35a5	solute carrier family 35, member A5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564361	Slc35a5	solute carrier family 35, member A5	gene	DOID:9006737	Monoclonal B-Cell Lymphocytosis		ISO	RGD:1344135	D	RGD:8554872	20160322	ClinVar		ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis	
1564361	Slc35a5	solute carrier family 35, member A5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564361	Slc35a5	solute carrier family 35, member A5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564362	Lcn10	lipocalin 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564362	Lcn10	lipocalin 10	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1347368	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
1564362	Lcn10	lipocalin 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564362	Lcn10	lipocalin 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1347368	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564362	Lcn10	lipocalin 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564362	Lcn10	lipocalin 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564362	Lcn10	lipocalin 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564362	Lcn10	lipocalin 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564362	Lcn10	lipocalin 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1347368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564365	Ugt3a1	UDP glycosyltransferase family 3 member A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564365	Ugt3a1	UDP glycosyltransferase family 3 member A1	gene	DOID:1324	lung cancer		ISO	RGD:1601933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564365	Ugt3a1	UDP glycosyltransferase family 3 member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564365	Ugt3a1	UDP glycosyltransferase family 3 member A1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564365	Ugt3a1	UDP glycosyltransferase family 3 member A1	gene	DOID:9256	colorectal cancer		ISO	RGD:1601933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564367	Ccnb3	cyclin B3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564367	Ccnb3	cyclin B3	gene	DOID:10534	stomach cancer		ISO	RGD:1352366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564367	Ccnb3	cyclin B3	gene	DOID:12849	autistic disorder		ISO	RGD:14351525	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:30208311
1564367	Ccnb3	cyclin B3	gene	DOID:3347	osteosarcoma		ISO	RGD:1352366	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22387997
1564367	Ccnb3	cyclin B3	gene	DOID:5041	esophageal cancer		ISO	RGD:1352366	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564367	Ccnb3	cyclin B3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564367	Ccnb3	cyclin B3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564367	Ccnb3	cyclin B3	gene	DOID:9007456	Female Infertility		ISO	RGD:1352366	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Female infertility	PMID:37635245
1564367	Ccnb3	cyclin B3	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1352366	D	RGD:8554872	20230418	ClinVar		ClinVar Annotator: match by term: Recurrent miscarriage	
1564371	Txlng	taxilin gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564371	Txlng	taxilin gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564371	Txlng	taxilin gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564371	Txlng	taxilin gamma	gene	DOID:1909	melanoma		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564371	Txlng	taxilin gamma	gene	DOID:3070	high grade glioma		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564371	Txlng	taxilin gamma	gene	DOID:4362	cervical cancer		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564371	Txlng	taxilin gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564371	Txlng	taxilin gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564376	Dok6	docking protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564376	Dok6	docking protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:1346452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564376	Dok6	docking protein 6	gene	DOID:1059	intellectual disability		ISO	RGD:1346452	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1564376	Dok6	docking protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564376	Dok6	docking protein 6	gene	DOID:1909	melanoma		ISO	RGD:1346452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564376	Dok6	docking protein 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564376	Dok6	docking protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564376	Dok6	docking protein 6	gene	DOID:630	genetic disease		ISO	RGD:1346452	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1564379	Tmem250	transmembrane protein 250	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1349018	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14	PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532
1564384	Stk31	serine threonine kinase 31	gene	DOID:10534	stomach cancer		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564384	Stk31	serine threonine kinase 31	gene	DOID:1115	sarcoma		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564384	Stk31	serine threonine kinase 31	gene	DOID:1909	melanoma		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564384	Stk31	serine threonine kinase 31	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564384	Stk31	serine threonine kinase 31	gene	DOID:2394	ovarian cancer		ISO	RGD:1606534	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564384	Stk31	serine threonine kinase 31	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564384	Stk31	serine threonine kinase 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564384	Stk31	serine threonine kinase 31	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606534	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564384	Stk31	serine threonine kinase 31	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564384	Stk31	serine threonine kinase 31	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:0050671	female breast cancer	onset	ISO	RGD:1319653	D	RGD:153323296|PMID:15867340	20220811	RGD			
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1319652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1319652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1319652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:1319652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:3275	thymoma		ISO	RGD:1319652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:3393	coronary artery disease		ISO	RGD:1319652	D	RGD:11554173	20220308	CTD		CTD Direct Evidence: marker/mechanism	PMID:34961328
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:3748	esophagus squamous cell carcinoma	exacerbates	ISO	RGD:1319652	D	RGD:153323298|PMID:24936140	20220811	RGD		DNA:hypermethylation: (human)	
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:3910	lung adenocarcinoma	treatment	ISO	RGD:1319652	D	RGD:153323295|PMID:31573955	20220811	RGD		human cells in a mouse model	
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1319652	D	RGD:153323297|PMID:31038805	20220811	RGD		DNA:hypermethylation:promoter (human)	
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564385	Fes	FES proto-oncogene, tyrosine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564388	Slc10a7	solute carrier family 10, member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564388	Slc10a7	solute carrier family 10, member 7	gene	DOID:10534	stomach cancer		ISO	RGD:1351041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564388	Slc10a7	solute carrier family 10, member 7	gene	DOID:1115	sarcoma		ISO	RGD:1351041	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564388	Slc10a7	solute carrier family 10, member 7	gene	DOID:1324	lung cancer		ISO	RGD:1351041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564388	Slc10a7	solute carrier family 10, member 7	gene	DOID:13580	cholestasis		ISO	RGD:1351041	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1564388	Slc10a7	solute carrier family 10, member 7	gene	DOID:1909	melanoma		ISO	RGD:1351041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564388	Slc10a7	solute carrier family 10, member 7	gene	DOID:225	syndrome		ISS	RGD:1316406	D	RGD:13592920	20181011	MouseDO			
1564388	Slc10a7	solute carrier family 10, member 7	gene	DOID:3275	thymoma		ISO	RGD:1351041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564388	Slc10a7	solute carrier family 10, member 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564388	Slc10a7	solute carrier family 10, member 7	gene	DOID:630	genetic disease		ISO	RGD:1351041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1564388	Slc10a7	solute carrier family 10, member 7	gene	DOID:9000420	Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis		ISO	RGD:1351041	D	RGD:7240710	20190424	OMIM			
1564388	Slc10a7	solute carrier family 10, member 7	gene	DOID:9000420	Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis		ISO	RGD:1351041	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS | ClinVar Annotator: match by term: SLC10A7-related condition | ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	PMID:25741868|PMID:28492532
1564388	Slc10a7	solute carrier family 10, member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564388	Slc10a7	solute carrier family 10, member 7	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1351041	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1564395	Plekha6	pleckstrin homology domain containing A6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564395	Plekha6	pleckstrin homology domain containing A6	gene	DOID:10534	stomach cancer		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564395	Plekha6	pleckstrin homology domain containing A6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564395	Plekha6	pleckstrin homology domain containing A6	gene	DOID:1115	sarcoma		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564395	Plekha6	pleckstrin homology domain containing A6	gene	DOID:1324	lung cancer		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564395	Plekha6	pleckstrin homology domain containing A6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564395	Plekha6	pleckstrin homology domain containing A6	gene	DOID:4362	cervical cancer		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564395	Plekha6	pleckstrin homology domain containing A6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564395	Plekha6	pleckstrin homology domain containing A6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564395	Plekha6	pleckstrin homology domain containing A6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564395	Plekha6	pleckstrin homology domain containing A6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1564395	Plekha6	pleckstrin homology domain containing A6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564395	Plekha6	pleckstrin homology domain containing A6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564395	Plekha6	pleckstrin homology domain containing A6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564396	Zfp12	zinc finger protein 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564396	Zfp12	zinc finger protein 12	gene	DOID:1324	lung cancer		ISO	RGD:1349914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564396	Zfp12	zinc finger protein 12	gene	DOID:3070	high grade glioma		ISO	RGD:1349914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564396	Zfp12	zinc finger protein 12	gene	DOID:3275	thymoma		ISO	RGD:1349914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564396	Zfp12	zinc finger protein 12	gene	DOID:4362	cervical cancer		ISO	RGD:1349914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564396	Zfp12	zinc finger protein 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1349914	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564396	Zfp12	zinc finger protein 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564396	Zfp12	zinc finger protein 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564396	Zfp12	zinc finger protein 12	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564396	Zfp12	zinc finger protein 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564396	Zfp12	zinc finger protein 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564397	Hs6st2	heparan sulfate 6-O-sulfotransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564397	Hs6st2	heparan sulfate 6-O-sulfotransferase 2	gene	DOID:0111843	Paganini-Miozzo syndrome		ISO	RGD:1605906	D	RGD:7240710	20190626	OMIM			
1564397	Hs6st2	heparan sulfate 6-O-sulfotransferase 2	gene	DOID:0111843	Paganini-Miozzo syndrome		ISO	RGD:1605906	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HS6ST2-related condition | ClinVar Annotator: match by term: Paganini-Miozzo syndrome	PMID:25741868
1564397	Hs6st2	heparan sulfate 6-O-sulfotransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564397	Hs6st2	heparan sulfate 6-O-sulfotransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564397	Hs6st2	heparan sulfate 6-O-sulfotransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346222	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:0080858	primary ovarian insufficiency 2A		ISO	RGD:1346222	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:0080858	primary ovarian insufficiency 2A		ISO	RGD:1346222	D	RGD:7240710	20130425	OMIM			
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:0080858	primary ovarian insufficiency 2A		ISO	RGD:1346222	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: DIAPH2-related condition | ClinVar Annotator: match by term: Premature ovarian failure 2A | ClinVar Annotator: match by term: premature ovarian failure 2A	PMID:25741868|PMID:28492532
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:1115	sarcoma		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:1909	melanoma		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:3275	thymoma		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346222	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:5426	primary ovarian insufficiency	susceptibility	ISO	RGD:1346222	D	RGD:1601071|PMID:9070928	20070405	RGD		DNA:translocation:intron:t(X;12)(q21;p1.3)	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564399	Diaph2	diaphanous-related formin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1343012	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:1343012	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1343012	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0051028	autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis		ISO	RGD:1343012	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:22781092|PMID:27686364
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0070481	schwannomatosis 2		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LZTR1-related schwannomatosis	PMID:25741868
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0110169	Charcot-Marie-Tooth disease axonal type 2P		ISO	RGD:1343012	D	RGD:7240710	20140911	OMIM			
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0110169	Charcot-Marie-Tooth disease axonal type 2P		ISO	RGD:1343012	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P | ClinVar Annotator: match by term: CMT 2G | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2P	PMID:16199547|PMID:17576681|PMID:20865121|PMID:22012984|PMID:22781092|PMID:24894446|PMID:25133958|PMID:25741868|PMID:26752306|PMID:26900582|PMID:27164712|PMID:27353043|PMID:27462242|PMID:27549087|PMID:27615052|PMID:27686364|PMID:27848944|PMID:28286897|PMID:28335037|PMID:28492532|PMID:29341362|PMID:29417091|PMID:29845787|PMID:30373780|PMID:30996334|PMID:31211173|PMID:31852984|PMID:32376792|PMID:33414056|PMID:33568173|PMID:34060689|PMID:34190362|PMID:35234685|PMID:35922214|PMID:35936615|PMID:9536098
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0110169	Charcot-Marie-Tooth disease axonal type 2P		ISS	RGD:1558134	D	RGD:13592920	20230718	MouseDO		OMIM:614436	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1343012	D	RGD:11554173	20170110	CTD		CTD Direct Evidence: marker/mechanism	PMID:20865121
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:16199547|PMID:20865121|PMID:22012984|PMID:24894446|PMID:25741868|PMID:26752306|PMID:28335037|PMID:28492532|PMID:29341362|PMID:29417091|PMID:31211173|PMID:32376792|PMID:33414056
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:12176	goiter		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:1389	polyneuropathy		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868|PMID:33414056
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:1596	depressive disorder		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:1826	epilepsy		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:1909	melanoma		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:1924	hypogonadism		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:2468	psychotic disorder		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:480	movement disease		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343012	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:5419	schizophrenia		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:630	genetic disease		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:20865121|PMID:22012984|PMID:25741868|PMID:26752306|PMID:28335037|PMID:28492532|PMID:29417091|PMID:32376792|PMID:33414056|PMID:34190362|PMID:35234685|PMID:9536098
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:870	neuropathy		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9003126	Hallucinations		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:20865121|PMID:28492532
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9007736	Vertigo		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:936	brain disease		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9409	diabetes insipidus		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:25741868|PMID:28492532|PMID:32376792
1564403	Lrsam1	leucine rich repeat and sterile alpha motif containing 1	gene	DOID:9970	obesity		ISO	RGD:1343012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532|PMID:32376792
1564407	Hmgb3	high mobility group box 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564407	Hmgb3	high mobility group box 3	gene	DOID:0111811	syndromic microphthalmia 13		ISO	RGD:1350742	D	RGD:7240710	20140903	OMIM			
1564407	Hmgb3	high mobility group box 3	gene	DOID:0111811	syndromic microphthalmia 13		ISO	RGD:1350742	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome	PMID:25741868
1564407	Hmgb3	high mobility group box 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350742	D	RGD:11554173	20190312	CTD		CTD Direct Evidence: marker/mechanism	PMID:30639441
1564407	Hmgb3	high mobility group box 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564407	Hmgb3	high mobility group box 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564407	Hmgb3	high mobility group box 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564412	Rnf183	ring finger protein 183	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564414	Dnajc27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564414	Dnajc27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:1115	sarcoma		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564414	Dnajc27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:1324	lung cancer		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564414	Dnajc27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:5041	esophageal cancer		ISO	RGD:1602712	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564414	Dnajc27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564414	Dnajc27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564414	Dnajc27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:9970	obesity		ISO	RGD:1602712	D	RGD:640476589|PMID:34207686	20260310	RGD		DNA:hypermethylation: :	
1564419	Hoxa11-as	HOXA11 antisense RNA	gene	DOID:6000	congestive heart failure		ISO	RGD:2300356	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
1564419	Hoxa11-as	HOXA11 antisense RNA	gene	DOID:6000	congestive heart failure		ISO	RGD:2300356	D	RGD:243048444|PMID:27317124	20230331	RGD		associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human)	
1564420	Washc5	WASH complex subunit 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1564420	Washc5	WASH complex subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564420	Washc5	WASH complex subunit 5	gene	DOID:0060058	lymphoma		ISO	RGD:1605096	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1564420	Washc5	WASH complex subunit 5	gene	DOID:0060565	Ritscher-Schinzel syndrome		ISO	RGD:1605096	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	
1564420	Washc5	WASH complex subunit 5	gene	DOID:0060565	Ritscher-Schinzel syndrome		ISO	RGD:1605096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CRANIOCEREBELLOCARDIAC DYSPLASIA | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome	PMID:23455931|PMID:24065355|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564185|PMID:31814071|PMID:34983064
1564420	Washc5	WASH complex subunit 5	gene	DOID:0060571	Ritscher-Schinzel syndrome 1		ISO	RGD:1605096	D	RGD:7240710	20181010	OMIM			
1564420	Washc5	WASH complex subunit 5	gene	DOID:0060571	Ritscher-Schinzel syndrome 1		ISO	RGD:1605096	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1	PMID:24065355|PMID:25741868|PMID:26467025|PMID:28492532
1564420	Washc5	WASH complex subunit 5	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1564420	Washc5	WASH complex subunit 5	gene	DOID:0110799	hereditary spastic paraplegia 47		ISO	RGD:1605096	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 47	PMID:24065355|PMID:25614869|PMID:25741868|PMID:29768361|PMID:31911435
1564420	Washc5	WASH complex subunit 5	gene	DOID:0110823	hereditary spastic paraplegia 8		ISO	RGD:1605096	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564420	Washc5	WASH complex subunit 5	gene	DOID:0110823	hereditary spastic paraplegia 8		ISO	RGD:1605096	D	RGD:7240710	20151216	OMIM			
1564420	Washc5	WASH complex subunit 5	gene	DOID:0110823	hereditary spastic paraplegia 8		ISO	RGD:1605096	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 8 | ClinVar Annotator: match by term: WASHC5-related condition	PMID:10797436|PMID:16199547|PMID:17160902|PMID:17576681|PMID:20301727|PMID:23455931|PMID:24065355|PMID:24123792|PMID:24451228|PMID:24759409|PMID:24824269|PMID:25614869|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564185|PMID:31814071|PMID:31911435|PMID:32816195|PMID:34983064|PMID:36130690|PMID:9536098
1564420	Washc5	WASH complex subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564420	Washc5	WASH complex subunit 5	gene	DOID:1059	intellectual disability		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1564420	Washc5	WASH complex subunit 5	gene	DOID:1115	sarcoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564420	Washc5	WASH complex subunit 5	gene	DOID:1389	polyneuropathy		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
1564420	Washc5	WASH complex subunit 5	gene	DOID:1909	melanoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:26467025|PMID:28492532
1564420	Washc5	WASH complex subunit 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:26467025|PMID:28492532
1564420	Washc5	WASH complex subunit 5	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1605096	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:17160902|PMID:25741868|PMID:26467025|PMID:28492532
1564420	Washc5	WASH complex subunit 5	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1605096	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17160902|PMID:20301727|PMID:20833645|PMID:23085491|PMID:24215330|PMID:25741868|PMID:26467025|PMID:26637979|PMID:27957547|PMID:28492532|PMID:28514442|PMID:31911435|PMID:32326241|PMID:32816195|PMID:33726816|PMID:34184482|PMID:38028608
1564420	Washc5	WASH complex subunit 5	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:26467025|PMID:28492532
1564420	Washc5	WASH complex subunit 5	gene	DOID:3275	thymoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
1564420	Washc5	WASH complex subunit 5	gene	DOID:4188	echolalia		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:25741868
1564420	Washc5	WASH complex subunit 5	gene	DOID:4362	cervical cancer		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564420	Washc5	WASH complex subunit 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1605096	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564420	Washc5	WASH complex subunit 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564420	Washc5	WASH complex subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1564420	Washc5	WASH complex subunit 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:26467025|PMID:28492532
1564420	Washc5	WASH complex subunit 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532
1564420	Washc5	WASH complex subunit 5	gene	DOID:630	genetic disease		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:30564185|PMID:31814071
1564420	Washc5	WASH complex subunit 5	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:26467025|PMID:28492532
1564420	Washc5	WASH complex subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1564420	Washc5	WASH complex subunit 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
1564420	Washc5	WASH complex subunit 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1564420	Washc5	WASH complex subunit 5	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1564420	Washc5	WASH complex subunit 5	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1605096	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:17576681|PMID:28492532|PMID:9536098
1564420	Washc5	WASH complex subunit 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564420	Washc5	WASH complex subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
1564420	Washc5	WASH complex subunit 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1605096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:26467025|PMID:28492532
1564428	Zfp475	zinc finger protein 475	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:38639344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564428	Zfp475	zinc finger protein 475	gene	DOID:1115	sarcoma		ISO	RGD:38639344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564431	Alpk2	alpha-kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564431	Alpk2	alpha-kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564431	Alpk2	alpha-kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564431	Alpk2	alpha-kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564431	Alpk2	alpha-kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564431	Alpk2	alpha-kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564431	Alpk2	alpha-kinase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564431	Alpk2	alpha-kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564431	Alpk2	alpha-kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564431	Alpk2	alpha-kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564431	Alpk2	alpha-kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564431	Alpk2	alpha-kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564431	Alpk2	alpha-kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1343226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564436	Glb1l2	galactosidase, beta 1-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564436	Glb1l2	galactosidase, beta 1-like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564436	Glb1l2	galactosidase, beta 1-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1606483	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564436	Glb1l2	galactosidase, beta 1-like 2	gene	DOID:1909	melanoma		ISO	RGD:1606483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564436	Glb1l2	galactosidase, beta 1-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564436	Glb1l2	galactosidase, beta 1-like 2	gene	DOID:3275	thymoma		ISO	RGD:1606483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564436	Glb1l2	galactosidase, beta 1-like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564436	Glb1l2	galactosidase, beta 1-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564436	Glb1l2	galactosidase, beta 1-like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564436	Glb1l2	galactosidase, beta 1-like 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564436	Glb1l2	galactosidase, beta 1-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564436	Glb1l2	galactosidase, beta 1-like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564436	Glb1l2	galactosidase, beta 1-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564436	Glb1l2	galactosidase, beta 1-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564437	Foxr2	forkhead box R2	gene	DOID:9004217	Nerve Sheath Neoplasms		ISO	RGD:1352257	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685747
1564440	Sohlh1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564440	Sohlh1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:0080497	ovarian dysgenesis 5		ISO	RGD:1605184	D	RGD:7240710	20190315	OMIM			
1564440	Sohlh1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:0080497	ovarian dysgenesis 5		ISO	RGD:1605184	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OVARIAN DYSGENESIS 5 | ClinVar Annotator: match by term: Ovarian dysgenesis 5 | ClinVar Annotator: match by term: SOHLH1-related disorder | ClinVar Annotator: match by term: ovarian dysgenesis 5	PMID:25741868|PMID:25774885|PMID:28492532
1564440	Sohlh1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1605184	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
1564440	Sohlh1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:0111925	spermatogenic failure 32		ISO	RGD:1605184	D	RGD:7240710	20190315	OMIM			
1564440	Sohlh1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:0111925	spermatogenic failure 32		ISO	RGD:1605184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 32	PMID:25741868
1564440	Sohlh1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:1924	hypogonadism		ISO	RGD:1605184	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:25741868|PMID:25774885
1564440	Sohlh1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:3275	thymoma		ISO	RGD:1605184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564440	Sohlh1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564440	Sohlh1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605184	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
1564442	Gltp	glycolipid transfer protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564442	Gltp	glycolipid transfer protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564442	Gltp	glycolipid transfer protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564442	Gltp	glycolipid transfer protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564444	Layn	layilin	gene	DOID:1115	sarcoma		ISO	RGD:1604525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564444	Layn	layilin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564444	Layn	layilin	gene	DOID:4362	cervical cancer		ISO	RGD:1604525	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564444	Layn	layilin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564444	Layn	layilin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564444	Layn	layilin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564450	Smim29	small integral membrane protein 29	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564450	Smim29	small integral membrane protein 29	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564450	Smim29	small integral membrane protein 29	gene	DOID:10534	stomach cancer		ISO	RGD:1605841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564450	Smim29	small integral membrane protein 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564450	Smim29	small integral membrane protein 29	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564451	Trib2	tribbles pseudokinase 2	gene	DOID:1909	melanoma		ISO	RGD:1351441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564451	Trib2	tribbles pseudokinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564454	Tmem167b	transmembrane protein 167B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564454	Tmem167b	transmembrane protein 167B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564454	Tmem167b	transmembrane protein 167B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:1909	melanoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:3275	thymoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343867	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564456	Tasor2	transcription activation suppressor family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564459	Ccdc136	coiled-coil domain containing 136	gene	DOID:1115	sarcoma		ISO	RGD:1604321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564459	Ccdc136	coiled-coil domain containing 136	gene	DOID:1324	lung cancer		ISO	RGD:1604321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564459	Ccdc136	coiled-coil domain containing 136	gene	DOID:1909	melanoma		ISO	RGD:1604321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564459	Ccdc136	coiled-coil domain containing 136	gene	DOID:4362	cervical cancer		ISO	RGD:1604321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564459	Ccdc136	coiled-coil domain containing 136	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604321	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564459	Ccdc136	coiled-coil domain containing 136	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564459	Ccdc136	coiled-coil domain containing 136	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564459	Ccdc136	coiled-coil domain containing 136	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564459	Ccdc136	coiled-coil domain containing 136	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564460	Tlr11	toll-like receptor 11	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:1614895	D	RGD:7246909|PMID:18256364	20130621	RGD		mRNA:increased expression:renal glomerulus (mouse)	
1564466	Bex2	brain expressed X-linked 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564466	Bex2	brain expressed X-linked 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564466	Bex2	brain expressed X-linked 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:0111846	X-linked congenital hemolytic anemia		ISO	RGD:1351598	D	RGD:7240710	20190315	OMIM			
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:0111846	X-linked congenital hemolytic anemia		ISO	RGD:1351598	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: ATP11C-related condition | ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED | ClinVar Annotator: match by term: X-linked congenital hemolytic anemia	PMID:25741868|PMID:26944472|PMID:28492532
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:10534	stomach cancer		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:1115	sarcoma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:1324	lung cancer		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:1909	melanoma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:3070	high grade glioma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:4362	cervical cancer		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:5041	esophageal cancer		ISO	RGD:1351598	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1351598	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1351598	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1564481	Atp11c	ATPase phospholipid transporting 11C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:1909	melanoma		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:3275	thymoma		ISO	RGD:1603979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:4362	cervical cancer		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:5041	esophageal cancer		ISO	RGD:1603979	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:9008236	Ritscher-Schinzel Syndrome 3		ISO	RGD:1603979	D	RGD:7240710	20210113	OMIM			
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:9008236	Ritscher-Schinzel Syndrome 3		ISO	RGD:1603979	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RITSCHER-SCHINZEL SYNDROME 3 | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 3 | ClinVar Annotator: match by term: VPS35L-related condition	PMID:25741868
1564485	Vps35l	VPS35 endosomal protein sorting factor like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564486	Ccdc163	coiled-coil domain containing 163	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3441755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564486	Ccdc163	coiled-coil domain containing 163	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:3441755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564486	Ccdc163	coiled-coil domain containing 163	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3441755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564486	Ccdc163	coiled-coil domain containing 163	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3441755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564487	Tulp4	TUB like protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564487	Tulp4	TUB like protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564487	Tulp4	TUB like protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564487	Tulp4	TUB like protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564487	Tulp4	TUB like protein 4	gene	DOID:1909	melanoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564487	Tulp4	TUB like protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564487	Tulp4	TUB like protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564487	Tulp4	TUB like protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564487	Tulp4	TUB like protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1350994	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564487	Tulp4	TUB like protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564487	Tulp4	TUB like protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564487	Tulp4	TUB like protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564487	Tulp4	TUB like protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564487	Tulp4	TUB like protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564487	Tulp4	TUB like protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564488	Lrrc74a	leucine rich repeat containing 74A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564488	Lrrc74a	leucine rich repeat containing 74A	gene	DOID:1115	sarcoma		ISO	RGD:1351641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564488	Lrrc74a	leucine rich repeat containing 74A	gene	DOID:1324	lung cancer		ISO	RGD:1351641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564488	Lrrc74a	leucine rich repeat containing 74A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564488	Lrrc74a	leucine rich repeat containing 74A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564490	Coro1c	coronin 1C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564490	Coro1c	coronin 1C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564490	Coro1c	coronin 1C	gene	DOID:10534	stomach cancer		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564490	Coro1c	coronin 1C	gene	DOID:1115	sarcoma		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564490	Coro1c	coronin 1C	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:1314425	D	RGD:401851065|PMID:35692390	20231030	RGD		mRNA:increased expression:retina (human)	
1564490	Coro1c	coronin 1C	gene	DOID:1324	lung cancer		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564490	Coro1c	coronin 1C	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1314425	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
1564490	Coro1c	coronin 1C	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1314425	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427
1564490	Coro1c	coronin 1C	gene	DOID:4362	cervical cancer		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564490	Coro1c	coronin 1C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564490	Coro1c	coronin 1C	gene	DOID:6039	uveal melanoma		ISO	RGD:1314425	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1564490	Coro1c	coronin 1C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564490	Coro1c	coronin 1C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564491	Vwa5b2	von Willebrand factor A domain containing 5B2	gene	DOID:10534	stomach cancer		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564491	Vwa5b2	von Willebrand factor A domain containing 5B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564491	Vwa5b2	von Willebrand factor A domain containing 5B2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1564491	Vwa5b2	von Willebrand factor A domain containing 5B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564491	Vwa5b2	von Willebrand factor A domain containing 5B2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564494	Cul4b	cullin 4B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1564494	Cul4b	cullin 4B	gene	DOID:0050642	hypochromic microcytic anemia		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypochromic microcytic anemia	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
1564494	Cul4b	cullin 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564494	Cul4b	cullin 4B	gene	DOID:0051062	ischemic stroke		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	PMID:17236139|PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:0060135	apraxia		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:17236139|PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:0060249	scoliosis		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21816345|PMID:24898194|PMID:25385192|PMID:25741868|PMID:26795593
1564494	Cul4b	cullin 4B	gene	DOID:0060320	inguinal hernia		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:0060800	syndromic X-linked intellectual disability 5		ISO	RGD:1342683	D	RGD:8554872	20170912	ClinVar		ClinVar Annotator: match by term: Pettigrew syndrome	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:0060822	syndromic X-linked intellectual disability Cabezas type		ISO	RGD:1342683	D	RGD:7240710	20220427	OMIM			
1564494	Cul4b	cullin 4B	gene	DOID:0060822	syndromic X-linked intellectual disability Cabezas type		ISO	RGD:1342683	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CUL4B-Related Disorder | ClinVar Annotator: match by term: CUL4B-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15	PMID:17236139|PMID:25741868|PMID:26467025|PMID:28492532
1564494	Cul4b	cullin 4B	gene	DOID:0080833	laryngomalacia		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:17236139|PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1564494	Cul4b	cullin 4B	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21816345|PMID:24898194|PMID:25385192|PMID:26795593
1564494	Cul4b	cullin 4B	gene	DOID:10376	amblyopia		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	
1564494	Cul4b	cullin 4B	gene	DOID:10534	stomach cancer		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564494	Cul4b	cullin 4B	gene	DOID:1059	intellectual disability		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17236139|PMID:25741868|PMID:28492532
1564494	Cul4b	cullin 4B	gene	DOID:1059	intellectual disability		ISS	RGD:1557902	D	RGD:13592920	20180518	MouseDO			
1564494	Cul4b	cullin 4B	gene	DOID:10892	hypospadias		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	
1564494	Cul4b	cullin 4B	gene	DOID:10907	microcephaly		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17236139|PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1564494	Cul4b	cullin 4B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564494	Cul4b	cullin 4B	gene	DOID:1115	sarcoma		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564494	Cul4b	cullin 4B	gene	DOID:11383	cryptorchidism		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:17236139|PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:1143	exotropia		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21816345|PMID:24898194|PMID:25385192|PMID:26795593
1564494	Cul4b	cullin 4B	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	
1564494	Cul4b	cullin 4B	gene	DOID:11836	clubfoot		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:12849	autistic disorder		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21816345|PMID:24898194|PMID:25385192|PMID:25741868|PMID:26795593
1564494	Cul4b	cullin 4B	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
1564494	Cul4b	cullin 4B	gene	DOID:1324	lung cancer		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564494	Cul4b	cullin 4B	gene	DOID:14228	oligospermia		ISO	RGD:1342683	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868|PMID:26832838
1564494	Cul4b	cullin 4B	gene	DOID:14415	Legg-Calve-Perthes disease		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Legg-Calve-Perthes disease	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:1826	epilepsy		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17236139|PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:1827	generalized epilepsy		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:1909	melanoma		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564494	Cul4b	cullin 4B	gene	DOID:1924	hypogonadism		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:2340	craniosynostosis		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21816345|PMID:24898194|PMID:25385192|PMID:26795593
1564494	Cul4b	cullin 4B	gene	DOID:2841	asthma		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21816345|PMID:24898194|PMID:25385192|PMID:26795593
1564494	Cul4b	cullin 4B	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
1564494	Cul4b	cullin 4B	gene	DOID:3070	high grade glioma		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564494	Cul4b	cullin 4B	gene	DOID:3275	thymoma		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564494	Cul4b	cullin 4B	gene	DOID:3310	atopic dermatitis		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
1564494	Cul4b	cullin 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564494	Cul4b	cullin 4B	gene	DOID:5041	esophageal cancer		ISO	RGD:1342683	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564494	Cul4b	cullin 4B	gene	DOID:535	sleep disorder		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564494	Cul4b	cullin 4B	gene	DOID:630	genetic disease		ISO	RGD:1342683	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21554755|PMID:21816345|PMID:24898194|PMID:25385192|PMID:25741868|PMID:26467025|PMID:26795593|PMID:28492532
1564494	Cul4b	cullin 4B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1564494	Cul4b	cullin 4B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564494	Cul4b	cullin 4B	gene	DOID:9000053	Headache		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
1564494	Cul4b	cullin 4B	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1564494	Cul4b	cullin 4B	gene	DOID:9000495	Tremor		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Action tremor | ClinVar Annotator: match by term: Tremor	
1564494	Cul4b	cullin 4B	gene	DOID:9001031	Retrognathia		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:17236139|PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1564494	Cul4b	cullin 4B	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:1342683	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Restlessness	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:17236139|PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:9001585	Intraventricular Hemorrhage		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intraventricular hemorrhage	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:9002079	Paresis		ISO	RGD:1342683	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1564494	Cul4b	cullin 4B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1564494	Cul4b	cullin 4B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564494	Cul4b	cullin 4B	gene	DOID:9004538	Hearing Loss		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21816345|PMID:24898194|PMID:25385192|PMID:26795593
1564494	Cul4b	cullin 4B	gene	DOID:9004866	Ataxia		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Incoordination	
1564494	Cul4b	cullin 4B	gene	DOID:9004956	Nocturnal Enuresis		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nocturnal enuresis	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21816345|PMID:24898194|PMID:25385192|PMID:26795593
1564494	Cul4b	cullin 4B	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:9006202	Pruritus		ISO	RGD:1342683	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pruritus	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1564494	Cul4b	cullin 4B	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1564494	Cul4b	cullin 4B	gene	DOID:9007573	Flatfoot		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:17236139|PMID:25385192|PMID:28492532
1564494	Cul4b	cullin 4B	gene	DOID:9007661	Dwarfism		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21816345|PMID:24898194|PMID:25385192|PMID:25741868|PMID:26795593
1564494	Cul4b	cullin 4B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21816345|PMID:24898194|PMID:25385192|PMID:25741868|PMID:26795593
1564494	Cul4b	cullin 4B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564494	Cul4b	cullin 4B	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21816345|PMID:24898194|PMID:25385192|PMID:26795593
1564494	Cul4b	cullin 4B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
1564494	Cul4b	cullin 4B	gene	DOID:936	brain disease		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
1564494	Cul4b	cullin 4B	gene	DOID:9834	hyperopia		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21816345|PMID:24898194|PMID:25385192|PMID:26795593
1564494	Cul4b	cullin 4B	gene	DOID:9840	esotropia		ISO	RGD:1342683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
1564499	Stam	signal transducing adaptor molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564499	Stam	signal transducing adaptor molecule	gene	DOID:1324	lung cancer		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564499	Stam	signal transducing adaptor molecule	gene	DOID:1909	melanoma		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564499	Stam	signal transducing adaptor molecule	gene	DOID:3275	thymoma		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564499	Stam	signal transducing adaptor molecule	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564499	Stam	signal transducing adaptor molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564499	Stam	signal transducing adaptor molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564499	Stam	signal transducing adaptor molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1320313	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564499	Stam	signal transducing adaptor molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564499	Stam	signal transducing adaptor molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564499	Stam	signal transducing adaptor molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564499	Stam	signal transducing adaptor molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320313	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564500	Plscr5	phospholipid scramblase family, member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1349492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564500	Plscr5	phospholipid scramblase family, member 5	gene	DOID:1324	lung cancer		ISO	RGD:1349492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564503	C1h16orf54	similar to human chromosome 16 open reading frame 54	gene	DOID:0080600	COVID-19		ISO	RGD:1605828	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1564503	C1h16orf54	similar to human chromosome 16 open reading frame 54	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1605828	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
1564503	C1h16orf54	similar to human chromosome 16 open reading frame 54	gene	DOID:4362	cervical cancer		ISO	RGD:1605828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564503	C1h16orf54	similar to human chromosome 16 open reading frame 54	gene	DOID:5041	esophageal cancer		ISO	RGD:1605828	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564503	C1h16orf54	similar to human chromosome 16 open reading frame 54	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564503	C1h16orf54	similar to human chromosome 16 open reading frame 54	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564504	Sqor	sulfide quinone oxidoreductase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564504	Sqor	sulfide quinone oxidoreductase	gene	DOID:0080600	COVID-19		ISO	RGD:1353757	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1564504	Sqor	sulfide quinone oxidoreductase	gene	DOID:10534	stomach cancer		ISO	RGD:1353757	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564504	Sqor	sulfide quinone oxidoreductase	gene	DOID:3275	thymoma		ISO	RGD:1353757	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564504	Sqor	sulfide quinone oxidoreductase	gene	DOID:4362	cervical cancer		ISO	RGD:1353757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564504	Sqor	sulfide quinone oxidoreductase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564504	Sqor	sulfide quinone oxidoreductase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353757	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564504	Sqor	sulfide quinone oxidoreductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564504	Sqor	sulfide quinone oxidoreductase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564504	Sqor	sulfide quinone oxidoreductase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564504	Sqor	sulfide quinone oxidoreductase	gene	DOID:9008341	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY		ISO	RGD:1353757	D	RGD:7240710	20210421	OMIM			
1564504	Sqor	sulfide quinone oxidoreductase	gene	DOID:9008341	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY		ISO	RGD:1353757	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY	
1564504	Sqor	sulfide quinone oxidoreductase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564505	Angptl3	angiopoietin-like 3	gene	DOID:0111061	familial hypobetalipoproteinemia 2		ISO	RGD:1346260	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564505	Angptl3	angiopoietin-like 3	gene	DOID:0111061	familial hypobetalipoproteinemia 2		ISO	RGD:1346260	D	RGD:7240710	20130221	OMIM			
1564505	Angptl3	angiopoietin-like 3	gene	DOID:1059	intellectual disability		ISO	RGD:1346260	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1564505	Angptl3	angiopoietin-like 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346260	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1564505	Angptl3	angiopoietin-like 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1557682	D	RGD:2314234|PMID:15094378	20091106	RGD		protein:increased expression:liver	
1564505	Angptl3	angiopoietin-like 3	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1557682	D	RGD:1578347|PMID:12672813	19990101	RGD			
1564505	Angptl3	angiopoietin-like 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1557682	D	RGD:2314234|PMID:15094378	20091106	RGD		protein:increased expression:liver	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:13938	amenorrhea		ISO	RGD:1625092	D	RGD:8554872	20190416	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
1564507	Nckap5	NCK-associated protein 5	gene	DOID:1909	melanoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:3070	high grade glioma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1625092	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:576	proteinuria		IAGP		D	RGD:12798539|PMID:21257920	20170324	RGD			
1564507	Nckap5	NCK-associated protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564507	Nckap5	NCK-associated protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564508	Mill2	MHC I like leukocyte 2	gene	DOID:10534	stomach cancer		ISO	RGD:1354237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564508	Mill2	MHC I like leukocyte 2	gene	DOID:1115	sarcoma		ISO	RGD:1354237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564508	Mill2	MHC I like leukocyte 2	gene	DOID:12206	dengue hemorrhagic fever		ISO	RGD:1354237	D	RGD:11554173	20190409	CTD		CTD Direct Evidence: marker/mechanism	PMID:22001756
1564508	Mill2	MHC I like leukocyte 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564508	Mill2	MHC I like leukocyte 2	gene	DOID:4362	cervical cancer		ISO	RGD:1354237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564508	Mill2	MHC I like leukocyte 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564508	Mill2	MHC I like leukocyte 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564508	Mill2	MHC I like leukocyte 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564508	Mill2	MHC I like leukocyte 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564508	Mill2	MHC I like leukocyte 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564508	Mill2	MHC I like leukocyte 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1354237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1353666	D	RGD:736803840|PMID:22357470	20260806	RGD		DNA:SNP::rs4704727	
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:12148	alveolar echinococcosis		ISO	RGD:1353666	D	RGD:736803822|PMID:40606633	20260804	RGD		protein:increased expression:liver, macrophage, serum:	
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1353666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1353666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1353666	D	RGD:736803841|PMID:20727045	20260806	RGD		DNA:SNPs:intron,promoter:rs4704727,rs6882076	
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1353666	D	RGD:736803842|PMID:19392790	20260806	RGD		DNA:SNP, haplotype:promoter:-1419G>A	
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1353666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:3310	atopic dermatitis	susceptibility	ISO	RGD:1353666	D	RGD:736803843|PMID:16940744	20260806	RGD		DNA:haplotype::	
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1353666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:5119	ovarian cyst		ISO	RGD:1353666	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353666	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564516	Timd4	T-cell immunoglobulin and mucin domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564523	Spata25	spermatogenesis associated 25	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564523	Spata25	spermatogenesis associated 25	gene	DOID:10534	stomach cancer		ISO	RGD:1351206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564523	Spata25	spermatogenesis associated 25	gene	DOID:4362	cervical cancer		ISO	RGD:1351206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564523	Spata25	spermatogenesis associated 25	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1564523	Spata25	spermatogenesis associated 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564525	Mxd1	max dimerization protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564525	Mxd1	max dimerization protein 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1353608	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
1564525	Mxd1	max dimerization protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564525	Mxd1	max dimerization protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564525	Mxd1	max dimerization protein 1	gene	DOID:9005632	Cocaine-Related Disorders	ameliorates	ISO	RGD:1557837	D	RGD:11561325|PMID:27506785	20250327	RGD			
1564525	Mxd1	max dimerization protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564527	Ptchd1	patched domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564527	Ptchd1	patched domain containing 1	gene	DOID:0050776	non-syndromic X-linked intellectual disability		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability	PMID:25131214|PMID:25741868
1564527	Ptchd1	patched domain containing 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352131	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252227|PMID:20844286
1564527	Ptchd1	patched domain containing 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352131	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1564527	Ptchd1	patched domain containing 1	gene	DOID:0112339	Tatton-Brown-Rahman syndrome		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome	PMID:25741868
1564527	Ptchd1	patched domain containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1352131	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20844286
1564527	Ptchd1	patched domain containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1352131	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1564527	Ptchd1	patched domain containing 1	gene	DOID:10754	otitis media		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	
1564527	Ptchd1	patched domain containing 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISS	RGD:1615725	D	RGD:13592920	20180518	MouseDO		OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003	
1564527	Ptchd1	patched domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564527	Ptchd1	patched domain containing 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1564527	Ptchd1	patched domain containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1352131	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21091464
1564527	Ptchd1	patched domain containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1352131	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 4 | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: PTCHD1-related condition	PMID:20844286|PMID:21114665|PMID:23871722|PMID:25131214|PMID:25741868|PMID:26539891
1564527	Ptchd1	patched domain containing 1	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:1352131	D	RGD:7240710	20190502	OMIM			
1564527	Ptchd1	patched domain containing 1	gene	DOID:1826	epilepsy		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26539891
1564527	Ptchd1	patched domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564527	Ptchd1	patched domain containing 1	gene	DOID:540	strabismus		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1564527	Ptchd1	patched domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27007844|PMID:28492532|PMID:29118110|PMID:30166346
1564527	Ptchd1	patched domain containing 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1564527	Ptchd1	patched domain containing 1	gene	DOID:9001581	Constipation		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1564527	Ptchd1	patched domain containing 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352131	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1564527	Ptchd1	patched domain containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1564527	Ptchd1	patched domain containing 1	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1352131	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21091464
1564527	Ptchd1	patched domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564527	Ptchd1	patched domain containing 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1352131	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1564527	Ptchd1	patched domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564529	Nutm1	NUT midline carcinoma, family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605553	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564529	Nutm1	NUT midline carcinoma, family member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564529	Nutm1	NUT midline carcinoma, family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1344610	D	RGD:7175555|PMID:19878917	20121211	RGD		DNA:mutations:multiple (human)	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:0111708	focal nonepidermolytic palmoplantar keratoderma		ISO	RGD:1344610	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma	PMID:25741868|PMID:28492532
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:0111711	focal nonepidermolytic palmoplantar keratoderma 2		ISO	RGD:1344610	D	RGD:7240710	20170329	OMIM			
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:0111711	focal nonepidermolytic palmoplantar keratoderma 2		ISO	RGD:1344610	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 | ClinVar Annotator: match by term: TRPV3-related condition	PMID:25741868|PMID:28492532
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:0112013	autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques		ISO	RGD:1344610	D	RGD:7240710	20200826	OMIM			
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:0112013	autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques		ISO	RGD:1344610	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OLMSTED SYNDROME 1 | ClinVar Annotator: match by term: Olmsted syndrome 1	PMID:22405088|PMID:24452206|PMID:25741868|PMID:27273692|PMID:28492532|PMID:28587736|PMID:32795529
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:10024	migraine with aura		ISO	RGD:1344610	D	RGD:7175557|PMID:22162417	20121212	RGD		DNA:snp:intron:g.36670T>C rs7217270 (human)	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1344610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:1115	sarcoma		ISO	RGD:1344610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:1324	lung cancer		ISO	RGD:1344610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1557695	D	RGD:7175554|PMID:22284622	20121211	RGD			
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:2723	dermatitis		IAGP		D	RGD:150520053|PMID:16858425	20211025	RGD		DNA:missense mutation:cds:G1717T (rat)	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:3310	atopic dermatitis		ISS	RGD:1557695	D	RGD:13592920	20180518	MouseDO		OMIM:603165	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344610	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:5419	schizophrenia		ISO	RGD:1344610	D	RGD:7175558|PMID:21970977	20121211	RGD		DNA:snps:intron:g.109277T>C, g.110078T>C (rs10162727, rs1035706) (human)	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:630	genetic disease		ISO	RGD:1344610	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:8881	rosacea		ISO	RGD:1344610	D	RGD:7175556|PMID:22189789	20121211	RGD		Erythematotelangiectatic Rosacea, Phymatous Rosacea; protein:increased expression:dermis (human)	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:9002221	Hyperplasia		ISO	RGD:1344610	D	RGD:11554173	20210707	CTD		CTD Direct Evidence: therapeutic	PMID:32535744
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344610	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1344610	D	RGD:7183081|PMID:20042636	20121212	RGD		DNA:snp:exon:c.558A>C rs11078458 (human)	
1564531	Trpv3	transient receptor potential cation channel, subfamily V, member 3	gene	DOID:987	alopecia		IAGP		D	RGD:150520053|PMID:16858425	20211025	RGD		DNA:missense mutation:cds:G1717T (rat)	
1564535	Rnf224	ring finger protein 224	gene	DOID:4362	cervical cancer		ISO	RGD:5132816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564538	Ccdc110	coiled-coil domain containing 110	gene	DOID:10534	stomach cancer		ISO	RGD:1606416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564538	Ccdc110	coiled-coil domain containing 110	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:13471403|RGD:13627150|RGD:151814256	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28492532
1564538	Ccdc110	coiled-coil domain containing 110	gene	DOID:1324	lung cancer		ISO	RGD:1606416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564538	Ccdc110	coiled-coil domain containing 110	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564538	Ccdc110	coiled-coil domain containing 110	gene	DOID:6039	uveal melanoma		ISO	RGD:1606416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1564538	Ccdc110	coiled-coil domain containing 110	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1564541	Steep1	STING1 ER exit protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564541	Steep1	STING1 ER exit protein 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
1564541	Steep1	STING1 ER exit protein 1	gene	DOID:0112054	non-syndromic X-linked intellectual disability 107		ISO	RGD:1603201	D	RGD:7240710	20190315	OMIM			
1564541	Steep1	STING1 ER exit protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564541	Steep1	STING1 ER exit protein 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1564541	Steep1	STING1 ER exit protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564541	Steep1	STING1 ER exit protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564541	Steep1	STING1 ER exit protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564541	Steep1	STING1 ER exit protein 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
1564541	Steep1	STING1 ER exit protein 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
1564541	Steep1	STING1 ER exit protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564541	Steep1	STING1 ER exit protein 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1564541	Steep1	STING1 ER exit protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1564542	Cntd1	cyclin N-terminal domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564542	Cntd1	cyclin N-terminal domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1603365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564542	Cntd1	cyclin N-terminal domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1603365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564542	Cntd1	cyclin N-terminal domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564543	Chmp4c	charged multivesicular body protein 4C	gene	DOID:10534	stomach cancer		ISO	RGD:1606751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564543	Chmp4c	charged multivesicular body protein 4C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564543	Chmp4c	charged multivesicular body protein 4C	gene	DOID:4362	cervical cancer		ISO	RGD:1606751	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564543	Chmp4c	charged multivesicular body protein 4C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564543	Chmp4c	charged multivesicular body protein 4C	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1606751	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:23535730|PMID:31043753
1564546	Idnk	Idnk, gluconokinase	gene	DOID:10534	stomach cancer		ISO	RGD:1347065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564546	Idnk	Idnk, gluconokinase	gene	DOID:1115	sarcoma		ISO	RGD:1347065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564546	Idnk	Idnk, gluconokinase	gene	DOID:1909	melanoma		ISO	RGD:1347065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564546	Idnk	Idnk, gluconokinase	gene	DOID:3275	thymoma		ISO	RGD:1347065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564546	Idnk	Idnk, gluconokinase	gene	DOID:4362	cervical cancer		ISO	RGD:1347065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564546	Idnk	Idnk, gluconokinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564546	Idnk	Idnk, gluconokinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564549	Tmem160	transmembrane protein 160	gene	DOID:10534	stomach cancer		ISO	RGD:1606276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564553	Cd84	CD84 molecule	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1349028	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1564557	Dcst2	DC-STAMP domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564557	Dcst2	DC-STAMP domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564557	Dcst2	DC-STAMP domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1606730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564557	Dcst2	DC-STAMP domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564557	Dcst2	DC-STAMP domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606730	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564557	Dcst2	DC-STAMP domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564557	Dcst2	DC-STAMP domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564557	Dcst2	DC-STAMP domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:1115	sarcoma		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:1909	melanoma		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:3307	teratoma		ISO	RGD:1349712	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:4362	cervical cancer		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1349712	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:630	genetic disease		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1349712	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:9001091	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES		ISO	RGD:1349712	D	RGD:7240710	20200115	OMIM			
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:9001091	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES		ISO	RGD:1349712	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: DDX6-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Intellectual developmental disorder with impaired language and dysmorphic facies	PMID:25741868|PMID:28492532|PMID:31422817
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564560	Ddx6	DEAD-box helicase 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564562	Apip	APAF1 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564562	Apip	APAF1 interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564562	Apip	APAF1 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:1603043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564562	Apip	APAF1 interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564562	Apip	APAF1 interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1603043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564562	Apip	APAF1 interacting protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564562	Apip	APAF1 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564562	Apip	APAF1 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564565	Med24	mediator complex subunit 24	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564565	Med24	mediator complex subunit 24	gene	DOID:10534	stomach cancer		ISO	RGD:1348876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564565	Med24	mediator complex subunit 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564565	Med24	mediator complex subunit 24	gene	DOID:1115	sarcoma		ISO	RGD:1348876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564565	Med24	mediator complex subunit 24	gene	DOID:1909	melanoma		ISO	RGD:1348876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564565	Med24	mediator complex subunit 24	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564565	Med24	mediator complex subunit 24	gene	DOID:3275	thymoma		ISO	RGD:1348876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564565	Med24	mediator complex subunit 24	gene	DOID:4362	cervical cancer		ISO	RGD:1348876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564565	Med24	mediator complex subunit 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1348876	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564565	Med24	mediator complex subunit 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564565	Med24	mediator complex subunit 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564565	Med24	mediator complex subunit 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564565	Med24	mediator complex subunit 24	gene	DOID:9007661	Dwarfism		ISO	RGD:1348876	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1564565	Med24	mediator complex subunit 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564565	Med24	mediator complex subunit 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564565	Med24	mediator complex subunit 24	gene	DOID:9256	colorectal cancer		ISO	RGD:1348876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564570	Gimap8	GTPase, IMAP family member 8	gene	DOID:12849	autistic disorder		ISO	RGD:1344762	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Autism	
1564570	Gimap8	GTPase, IMAP family member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564570	Gimap8	GTPase, IMAP family member 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564570	Gimap8	GTPase, IMAP family member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564575	Tmem89	transmembrane protein 89	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564576	C14h4orf36	similar to human chromosome 4 open reading frame 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564576	C14h4orf36	similar to human chromosome 4 open reading frame 36	gene	DOID:1324	lung cancer		ISO	RGD:1606159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564579	Ypel3	yippee-like 3	gene	DOID:0050847	sleep apnea		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
1564579	Ypel3	yippee-like 3	gene	DOID:0060260	ptosis		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1564579	Ypel3	yippee-like 3	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1347620	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
1564579	Ypel3	yippee-like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564579	Ypel3	yippee-like 3	gene	DOID:11720	distal myopathy		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:25741868
1564579	Ypel3	yippee-like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564579	Ypel3	yippee-like 3	gene	DOID:4977	lymphedema		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:25741868
1564579	Ypel3	yippee-like 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564579	Ypel3	yippee-like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564579	Ypel3	yippee-like 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1564579	Ypel3	yippee-like 3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1564579	Ypel3	yippee-like 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1564579	Ypel3	yippee-like 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347620	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1564579	Ypel3	yippee-like 3	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868
1564579	Ypel3	yippee-like 3	gene	DOID:9002554	Tachycardia		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:25741868
1564579	Ypel3	yippee-like 3	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868
1564579	Ypel3	yippee-like 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:14698777|RGD:14698779|RGD:14698789	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1564579	Ypel3	yippee-like 3	gene	DOID:9005077	Joint Instability		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1564582	Mix23	mitochondrial matrix import factor 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564582	Mix23	mitochondrial matrix import factor 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564582	Mix23	mitochondrial matrix import factor 23	gene	DOID:1115	sarcoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564582	Mix23	mitochondrial matrix import factor 23	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564582	Mix23	mitochondrial matrix import factor 23	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564582	Mix23	mitochondrial matrix import factor 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1604240	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564582	Mix23	mitochondrial matrix import factor 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564582	Mix23	mitochondrial matrix import factor 23	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564582	Mix23	mitochondrial matrix import factor 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564591	Fam178b	family with sequence similarity 178, member B	gene	DOID:1115	sarcoma		ISO	RGD:1605679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564596	Glod5	glyoxalase domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564596	Glod5	glyoxalase domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1603816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564596	Glod5	glyoxalase domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564603	Fam98b	family with sequence similarity 98, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564603	Fam98b	family with sequence similarity 98, member B	gene	DOID:5041	esophageal cancer		ISO	RGD:1606116	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564603	Fam98b	family with sequence similarity 98, member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564603	Fam98b	family with sequence similarity 98, member B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564605	Hoxa11	homeobox A11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564605	Hoxa11	homeobox A11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564605	Hoxa11	homeobox A11	gene	DOID:11111	hydronephrosis		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:35253374
1564605	Hoxa11	homeobox A11	gene	DOID:13938	amenorrhea		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:35253374
1564605	Hoxa11	homeobox A11	gene	DOID:2213	hemorrhagic disease		ISO	RGD:735680	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
1564605	Hoxa11	homeobox A11	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:735680	D	RGD:11554173	20220607	CTD		CTD Direct Evidence: marker/mechanism	PMID:35253374
1564605	Hoxa11	homeobox A11	gene	DOID:4362	cervical cancer		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564605	Hoxa11	homeobox A11	gene	DOID:557	kidney disease		ISO	RGD:735680	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:7596412
1564605	Hoxa11	homeobox A11	gene	DOID:784	chronic kidney disease		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:35253374
1564605	Hoxa11	homeobox A11	gene	DOID:9001611	Urogenital Abnormalities		ISO	RGD:735680	D	RGD:11554173	20220607	CTD		CTD Direct Evidence: marker/mechanism	PMID:35253374
1564605	Hoxa11	homeobox A11	gene	DOID:9001611	Urogenital Abnormalities		ISO	RGD:735680	D	RGD:8554872	20240305	ClinVar		ClinVar Annotator: match by term: Inherited genitourinary tract anomalies	PMID:32666543
1564605	Hoxa11	homeobox A11	gene	DOID:9002496	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia		ISO	RGD:735680	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24239177
1564605	Hoxa11	homeobox A11	gene	DOID:9002496	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS	
1564605	Hoxa11	homeobox A11	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:735680	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
1564605	Hoxa11	homeobox A11	gene	DOID:9004998	Kyphoscoliosis		IEP		D	RGD:11354896|PMID:18327665	20160728	RGD		mRNA:decreased expression:verterbra	
1564605	Hoxa11	homeobox A11	gene	DOID:9006251	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1		ISO	RGD:735680	D	RGD:7240710	20190320	OMIM			
1564605	Hoxa11	homeobox A11	gene	DOID:9006251	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1		ISO	RGD:735680	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HOXA11-related condition | ClinVar Annotator: match by term: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	PMID:25741868|PMID:28748566
1564605	Hoxa11	homeobox A11	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:735680	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:7596412
1564605	Hoxa11	homeobox A11	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:735680	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16804899
1564605	Hoxa11	homeobox A11	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:35253374
1564605	Hoxa11	homeobox A11	gene	DOID:9827	radioulnar synostosis		ISO	RGD:735680	D	RGD:11353968|PMID:11101832	20160727	RGD			
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:18313024|PMID:20603202|PMID:24355708|PMID:25480986|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:35069422|PMID:3963113|PMID:8053762
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0050952	spastic ataxia		ISO	RGD:1605701	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532|PMID:32579787
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1605701	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0110790	hereditary spastic paraplegia 39		ISO	RGD:1605701	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0110790	hereditary spastic paraplegia 39		ISO	RGD:1605701	D	RGD:7240710	20130221	OMIM			
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0110790	hereditary spastic paraplegia 39		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	PMID:16199547|PMID:17576681|PMID:18313024|PMID:24355708|PMID:25033069|PMID:25133958|PMID:25267340|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:27866050|PMID:28492532|PMID:28559085|PMID:29221171|PMID:29248984|PMID:29749493|PMID:30015775|PMID:30097146|PMID:30555943|PMID:31048186|PMID:31135245|PMID:31712030|PMID:31780887|PMID:32586184|PMID:32623594|PMID:32758583|PMID:32870266|PMID:33141049|PMID:33210227|PMID:34103343|PMID:34234304|PMID:34256108|PMID:34445196|PMID:34816117|PMID:35069422|PMID:35198007|PMID:35872528|PMID:35947152|PMID:38703036|PMID:38735647|PMID:9536098
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0111265	Boucher-Neuhauser syndrome		ISO	RGD:1605701	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0111265	Boucher-Neuhauser syndrome		ISO	RGD:1605701	D	RGD:7240710	20141015	OMIM			
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0111265	Boucher-Neuhauser syndrome		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: BOUCHER-NEUHAUSER SYNDROME | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism	PMID:24355708|PMID:25033069|PMID:25267340|PMID:25359264|PMID:25480986|PMID:25741868|PMID:26467025|PMID:27866050|PMID:28492532|PMID:28559085|PMID:29248984|PMID:30555943|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0111271	Oliver-McFarlane syndrome		ISO	RGD:1605701	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0111271	Oliver-McFarlane syndrome		ISO	RGD:1605701	D	RGD:7240710	20171011	OMIM			
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0111271	Oliver-McFarlane syndrome		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: OLIVER-MCFARLANE SYNDROME | ClinVar Annotator: match by term: Trichomegaly retina pigmentary degeneration dwarfism | ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	PMID:25033069|PMID:25359264|PMID:25480986|PMID:25741868|PMID:26467025|PMID:27866050|PMID:28492532|PMID:28559085|PMID:29248984|PMID:30555943|PMID:31135245|PMID:31712030|PMID:31780887|PMID:32586184|PMID:33141049|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0111428	essential tremor 1		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:24355708
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:0111587	Gordon Holmes syndrome		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome	PMID:25741868|PMID:28492532|PMID:28559085|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:35069422
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:1059	intellectual disability		ISO	RGD:1605701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:11830	myopia		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532|PMID:28559085|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:35069422
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:1389	polyneuropathy		ISO	RGD:1605701	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22819951
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:1909	melanoma		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1605701	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:1924	hypogonadism		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:28559085|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:1930	Laurence-Moon syndrome		ISO	RGD:1605701	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:1930	Laurence-Moon syndrome		ISO	RGD:1605701	D	RGD:7240710	20171011	OMIM			
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:1930	Laurence-Moon syndrome		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Laurence-Moon syndrome	PMID:25033069|PMID:25359264|PMID:25741868|PMID:26467025|PMID:27866050|PMID:28492532|PMID:28559085|PMID:29248984|PMID:30555943|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:231	motor neuron disease		ISO	RGD:1605701	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18313024|PMID:20603202
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1605701	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20382209
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:26467025|PMID:26995604|PMID:28492532|PMID:29221171|PMID:29248984|PMID:30555943|PMID:31048186|PMID:34445196
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:2710	sick building syndrome		ISO	RGD:1605701	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23418070
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:3275	thymoma		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1605701	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868|PMID:28492532|PMID:32579787
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:3614	Kallmann syndrome		ISO	RGD:1605701	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Hypogonadism with anosmia	PMID:25741868
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:4362	cervical cancer		ISO	RGD:1605701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:535	sleep disorder		ISO	RGD:1605701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:543	dystonia		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:5723	optic atrophy		ISO	RGD:1605701	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1605701	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20188121
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:630	genetic disease		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25133958|PMID:25741868|PMID:28492532
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532|PMID:28559085|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:35069422
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:8501	fundus dystrophy		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25480986|PMID:25741868|PMID:28492532
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:863	nervous system disease		ISO	RGD:1605701	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8211998
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:870	neuropathy		ISO	RGD:1605701	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:28492532
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:9001722	Dysarthria		ISO	RGD:1605701	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1605701	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:9004866	Ataxia		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:28559085|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532|PMID:28559085|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:35069422
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1605701	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:28492532
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1605701	D	RGD:8554872	20210518	ClinVar		ClinVar Annotator: match by term: Peripheral precocious puberty	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564611	Pnpla6	patatin like domain 6, lysophospholipase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1605701	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
1564614	Cfhr4	complement factor H-related 4	gene	DOID:1115	sarcoma		ISO	RGD:1351940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564614	Cfhr4	complement factor H-related 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1351940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1564614	Cfhr4	complement factor H-related 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564615	Avl9	AVL9 cell migration associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564615	Avl9	AVL9 cell migration associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564615	Avl9	AVL9 cell migration associated	gene	DOID:10534	stomach cancer		ISO	RGD:1604629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564615	Avl9	AVL9 cell migration associated	gene	DOID:2394	ovarian cancer		ISO	RGD:1604629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564615	Avl9	AVL9 cell migration associated	gene	DOID:3275	thymoma		ISO	RGD:1604629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564615	Avl9	AVL9 cell migration associated	gene	DOID:4362	cervical cancer		ISO	RGD:1604629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564615	Avl9	AVL9 cell migration associated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564615	Avl9	AVL9 cell migration associated	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564615	Avl9	AVL9 cell migration associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564615	Avl9	AVL9 cell migration associated	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1604629	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1564615	Avl9	AVL9 cell migration associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564615	Avl9	AVL9 cell migration associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564618	Shisa6	shisa family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564618	Shisa6	shisa family member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564620	Slc44a5	solute carrier family 44, member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564620	Slc44a5	solute carrier family 44, member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1604721	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564620	Slc44a5	solute carrier family 44, member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564620	Slc44a5	solute carrier family 44, member 5	gene	DOID:1324	lung cancer		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564620	Slc44a5	solute carrier family 44, member 5	gene	DOID:1909	melanoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564620	Slc44a5	solute carrier family 44, member 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564620	Slc44a5	solute carrier family 44, member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564620	Slc44a5	solute carrier family 44, member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1604721	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564620	Slc44a5	solute carrier family 44, member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564620	Slc44a5	solute carrier family 44, member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564620	Slc44a5	solute carrier family 44, member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564621	Smcr8	SMCR8-C9orf72 complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564621	Smcr8	SMCR8-C9orf72 complex subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564621	Smcr8	SMCR8-C9orf72 complex subunit	gene	DOID:1115	sarcoma		ISO	RGD:1345463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564621	Smcr8	SMCR8-C9orf72 complex subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345463	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1564621	Smcr8	SMCR8-C9orf72 complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564622	Wdr49	WD repeat domain 49	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564622	Wdr49	WD repeat domain 49	gene	DOID:10283	prostate cancer		ISO	RGD:1354020	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1564622	Wdr49	WD repeat domain 49	gene	DOID:10283	prostate cancer		ISO	RGD:1354020	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1564622	Wdr49	WD repeat domain 49	gene	DOID:10534	stomach cancer		ISO	RGD:1354020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564622	Wdr49	WD repeat domain 49	gene	DOID:1115	sarcoma		ISO	RGD:1354020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564622	Wdr49	WD repeat domain 49	gene	DOID:4362	cervical cancer		ISO	RGD:1354020	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564622	Wdr49	WD repeat domain 49	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564622	Wdr49	WD repeat domain 49	gene	DOID:5041	esophageal cancer		ISO	RGD:1354020	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564622	Wdr49	WD repeat domain 49	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564622	Wdr49	WD repeat domain 49	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564622	Wdr49	WD repeat domain 49	gene	DOID:9256	colorectal cancer		ISO	RGD:1354020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564623	Ovca2	OVCA2 serine hydrolase domain containing	gene	DOID:2394	ovarian cancer		ISO	RGD:1603916	D	RGD:2302168|PMID:8616839	20081124	RGD		mRNA:decreased expression:ovary	
1564625	Tm9sf3	transmembrane 9 superfamily member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564625	Tm9sf3	transmembrane 9 superfamily member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564625	Tm9sf3	transmembrane 9 superfamily member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564625	Tm9sf3	transmembrane 9 superfamily member 3	gene	DOID:1909	melanoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564625	Tm9sf3	transmembrane 9 superfamily member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564625	Tm9sf3	transmembrane 9 superfamily member 3	gene	DOID:3275	thymoma		ISO	RGD:1604607	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564625	Tm9sf3	transmembrane 9 superfamily member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564625	Tm9sf3	transmembrane 9 superfamily member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564625	Tm9sf3	transmembrane 9 superfamily member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564625	Tm9sf3	transmembrane 9 superfamily member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564625	Tm9sf3	transmembrane 9 superfamily member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564625	Tm9sf3	transmembrane 9 superfamily member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564625	Tm9sf3	transmembrane 9 superfamily member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564625	Tm9sf3	transmembrane 9 superfamily member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564628	Usp27x	ubiquitin specific peptidase 27, X-linked	gene	DOID:0112036	non-syndromic X-linked intellectual disability 105		ISO	RGD:1350698	D	RGD:7240710	20190315	OMIM			
1564628	Usp27x	ubiquitin specific peptidase 27, X-linked	gene	DOID:0112036	non-syndromic X-linked intellectual disability 105		ISO	RGD:1350698	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105	PMID:25741868|PMID:38182161
1564628	Usp27x	ubiquitin specific peptidase 27, X-linked	gene	DOID:630	genetic disease		ISO	RGD:1350698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1564635	Grxcr1	glutaredoxin and cysteine rich domain containing 1	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:2298825	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	
1564635	Grxcr1	glutaredoxin and cysteine rich domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2298825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564635	Grxcr1	glutaredoxin and cysteine rich domain containing 1	gene	DOID:0110483	autosomal recessive nonsyndromic deafness 25		ISO	RGD:2298825	D	RGD:7240710	20130221	OMIM			
1564635	Grxcr1	glutaredoxin and cysteine rich domain containing 1	gene	DOID:0110483	autosomal recessive nonsyndromic deafness 25		ISO	RGD:2298825	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 25 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 25 | ClinVar Annotator: match by term: GRXCR1-related condition	PMID:16380907|PMID:20137774|PMID:20137778|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26969326|PMID:28492532|PMID:30311386|PMID:32279305|PMID:34753855|PMID:35802133|PMID:36633841|PMID:36672810|PMID:42086625
1564635	Grxcr1	glutaredoxin and cysteine rich domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:2298825	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564635	Grxcr1	glutaredoxin and cysteine rich domain containing 1	gene	DOID:5419	schizophrenia		ISO	RGD:2298825	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1564635	Grxcr1	glutaredoxin and cysteine rich domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:2298825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:28492532
1564635	Grxcr1	glutaredoxin and cysteine rich domain containing 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:2298825	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:25802247|PMID:30311386
1564635	Grxcr1	glutaredoxin and cysteine rich domain containing 1	gene	DOID:9008681	Deafness		ISO	RGD:2298825	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	
1564636	Ovch2	ovochymase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564636	Ovch2	ovochymase 2	gene	DOID:1115	sarcoma		ISO	RGD:1602408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564636	Ovch2	ovochymase 2	gene	DOID:1324	lung cancer		ISO	RGD:1602408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564636	Ovch2	ovochymase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602408	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564636	Ovch2	ovochymase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564636	Ovch2	ovochymase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564638	Sec14l5	SEC14-like lipid binding 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564638	Sec14l5	SEC14-like lipid binding 5	gene	DOID:1324	lung cancer		ISO	RGD:1605420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564638	Sec14l5	SEC14-like lipid binding 5	gene	DOID:4362	cervical cancer		ISO	RGD:1605420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564638	Sec14l5	SEC14-like lipid binding 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1605420	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564638	Sec14l5	SEC14-like lipid binding 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564638	Sec14l5	SEC14-like lipid binding 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564638	Sec14l5	SEC14-like lipid binding 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1605420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:1324	lung cancer		ISO	RGD:1342509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:1580	diffuse scleroderma	susceptibility	ISO	RGD:1342509	D	RGD:9684975|PMID:19815934	20141212	RGD		DNA:SNPs: :rs10516487,rs17266594,rs3733197(human)	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:1909	melanoma		ISO	RGD:1342509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:418	systemic scleroderma	susceptibility	ISO	RGD:1342509	D	RGD:9684975|PMID:19815934	20141212	RGD		DNA:SNPs: :rs10516487,rs17266594(human)	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342509	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1342509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:7188	autoimmune thyroiditis	onset	ISO	RGD:1342509	D	RGD:9684981|PMID:24127308	20141212	RGD		DNA:SNP: :rs3733197(human)	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1342509	D	RGD:9684977|PMID:21989138	20141212	RGD		DNA:haplotype: : rs10516487, rs3733197, rs17266594(human)	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:9007355	Hashimoto Disease	susceptibility	ISO	RGD:1342509	D	RGD:9684981|PMID:24127308	20141212	RGD		DNA:SNP: :rs3733197(human)	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1342509	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18204447
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1342509	D	RGD:9684976|PMID:18204447	20141212	RGD		DNA:SNPs:introns:	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564639	Bank1	B-cell scaffold protein with ankyrin repeats 1	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1342509	D	RGD:9684973|PMID:24342660	20141211	RGD		DNA:SNP: :rs3733197(human)	
1564640	Akap17a	A-kinase anchoring protein 17A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564640	Akap17a	A-kinase anchoring protein 17A	gene	DOID:1115	sarcoma		ISO	RGD:1606031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564640	Akap17a	A-kinase anchoring protein 17A	gene	DOID:5041	esophageal cancer		ISO	RGD:1606031	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564640	Akap17a	A-kinase anchoring protein 17A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564640	Akap17a	A-kinase anchoring protein 17A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564641	Heg1	heart development protein with EGF-like domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564641	Heg1	heart development protein with EGF-like domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564641	Heg1	heart development protein with EGF-like domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564641	Heg1	heart development protein with EGF-like domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1603204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564641	Heg1	heart development protein with EGF-like domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564641	Heg1	heart development protein with EGF-like domains 1	gene	DOID:3275	thymoma		ISO	RGD:1603204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564641	Heg1	heart development protein with EGF-like domains 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564641	Heg1	heart development protein with EGF-like domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564641	Heg1	heart development protein with EGF-like domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603204	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564641	Heg1	heart development protein with EGF-like domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564641	Heg1	heart development protein with EGF-like domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564641	Heg1	heart development protein with EGF-like domains 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564641	Heg1	heart development protein with EGF-like domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564641	Heg1	heart development protein with EGF-like domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564642	Trim35	tripartite motif-containing 35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564642	Trim35	tripartite motif-containing 35	gene	DOID:1115	sarcoma		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564642	Trim35	tripartite motif-containing 35	gene	DOID:2394	ovarian cancer		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564642	Trim35	tripartite motif-containing 35	gene	DOID:3275	thymoma		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564642	Trim35	tripartite motif-containing 35	gene	DOID:4362	cervical cancer		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564642	Trim35	tripartite motif-containing 35	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564642	Trim35	tripartite motif-containing 35	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564642	Trim35	tripartite motif-containing 35	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564643	Bex1	brain expressed X-linked 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564643	Bex1	brain expressed X-linked 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564643	Bex1	brain expressed X-linked 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564644	Ubl5	ubiquitin-like 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564644	Ubl5	ubiquitin-like 5	gene	DOID:10534	stomach cancer		ISO	RGD:1351956	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564644	Ubl5	ubiquitin-like 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564644	Ubl5	ubiquitin-like 5	gene	DOID:1324	lung cancer		ISO	RGD:1351956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564644	Ubl5	ubiquitin-like 5	gene	DOID:4362	cervical cancer		ISO	RGD:1351956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564644	Ubl5	ubiquitin-like 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1351956	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564644	Ubl5	ubiquitin-like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564644	Ubl5	ubiquitin-like 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564654	Syt16	synaptotagmin 16	gene	DOID:1909	melanoma		ISO	RGD:1346455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564654	Syt16	synaptotagmin 16	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564659	Vsig4	V-set and immunoglobulin domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564659	Vsig4	V-set and immunoglobulin domain containing 4	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1354021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1564659	Vsig4	V-set and immunoglobulin domain containing 4	gene	DOID:0080600	COVID-19		ISO	RGD:1354021	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1564659	Vsig4	V-set and immunoglobulin domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1354021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564659	Vsig4	V-set and immunoglobulin domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564659	Vsig4	V-set and immunoglobulin domain containing 4	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1354021	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
1564659	Vsig4	V-set and immunoglobulin domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564659	Vsig4	V-set and immunoglobulin domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354021	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1564659	Vsig4	V-set and immunoglobulin domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564659	Vsig4	V-set and immunoglobulin domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354021	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18206229
1564660	Ankrd7	ankyrin repeat domain 7	gene	DOID:0060058	lymphoma		ISO	RGD:1352130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1564660	Ankrd7	ankyrin repeat domain 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1352130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564660	Ankrd7	ankyrin repeat domain 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564664	C3h11orf96	similar to human chromosome 11 open reading frame 96	gene	DOID:1059	intellectual disability		ISO	RGD:4108561	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1564669	Zfp280c	zinc finger protein 280C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564669	Zfp280c	zinc finger protein 280C	gene	DOID:10534	stomach cancer		ISO	RGD:1349297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564669	Zfp280c	zinc finger protein 280C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564669	Zfp280c	zinc finger protein 280C	gene	DOID:1909	melanoma		ISO	RGD:1349297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564669	Zfp280c	zinc finger protein 280C	gene	DOID:4362	cervical cancer		ISO	RGD:1349297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564669	Zfp280c	zinc finger protein 280C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564669	Zfp280c	zinc finger protein 280C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564669	Zfp280c	zinc finger protein 280C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564670	Cpeb3	cytoplasmic polyadenylation element binding protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564670	Cpeb3	cytoplasmic polyadenylation element binding protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564670	Cpeb3	cytoplasmic polyadenylation element binding protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1348549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564670	Cpeb3	cytoplasmic polyadenylation element binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564670	Cpeb3	cytoplasmic polyadenylation element binding protein 3	gene	DOID:630	genetic disease		ISO	RGD:1348549	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	
1564670	Cpeb3	cytoplasmic polyadenylation element binding protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348549	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1564670	Cpeb3	cytoplasmic polyadenylation element binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564670	Cpeb3	cytoplasmic polyadenylation element binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564670	Cpeb3	cytoplasmic polyadenylation element binding protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564677	Onecut2	one cut homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1354460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564677	Onecut2	one cut homeobox 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564677	Onecut2	one cut homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354460	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564677	Onecut2	one cut homeobox 2	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1354460	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	
1564677	Onecut2	one cut homeobox 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1354460	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581250
1564680	Col28a1	collagen type XXVIII alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564680	Col28a1	collagen type XXVIII alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564680	Col28a1	collagen type XXVIII alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1604476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564680	Col28a1	collagen type XXVIII alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1604476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564680	Col28a1	collagen type XXVIII alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1604476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564680	Col28a1	collagen type XXVIII alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564680	Col28a1	collagen type XXVIII alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1604476	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564680	Col28a1	collagen type XXVIII alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564680	Col28a1	collagen type XXVIII alpha 1 chain	gene	DOID:670	amphetamine abuse		ISO	RGD:1604476	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
1564680	Col28a1	collagen type XXVIII alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564680	Col28a1	collagen type XXVIII alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564680	Col28a1	collagen type XXVIII alpha 1 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1604476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564681	Urgcp	upregulator of cell proliferation	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564687	Nmrk1	nicotinamide riboside kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564687	Nmrk1	nicotinamide riboside kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564687	Nmrk1	nicotinamide riboside kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564687	Nmrk1	nicotinamide riboside kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564687	Nmrk1	nicotinamide riboside kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564687	Nmrk1	nicotinamide riboside kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564687	Nmrk1	nicotinamide riboside kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343469	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564687	Nmrk1	nicotinamide riboside kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564687	Nmrk1	nicotinamide riboside kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564687	Nmrk1	nicotinamide riboside kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564691	Gon4l	gon-4 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564691	Gon4l	gon-4 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564691	Gon4l	gon-4 like	gene	DOID:10534	stomach cancer		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564691	Gon4l	gon-4 like	gene	DOID:1059	intellectual disability		ISO	RGD:1606548	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1564691	Gon4l	gon-4 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564691	Gon4l	gon-4 like	gene	DOID:1115	sarcoma		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564691	Gon4l	gon-4 like	gene	DOID:1324	lung cancer		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564691	Gon4l	gon-4 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564691	Gon4l	gon-4 like	gene	DOID:2394	ovarian cancer		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564691	Gon4l	gon-4 like	gene	DOID:4362	cervical cancer		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564691	Gon4l	gon-4 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564691	Gon4l	gon-4 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1606548	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564691	Gon4l	gon-4 like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564691	Gon4l	gon-4 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564691	Gon4l	gon-4 like	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606548	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1564691	Gon4l	gon-4 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564691	Gon4l	gon-4 like	gene	DOID:8850	salivary gland cancer		ISS	RGD:2312710	D	RGD:13592920	20180518	MouseDO			
1564691	Gon4l	gon-4 like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1564691	Gon4l	gon-4 like	gene	DOID:9005834	Ependymomas		ISO	RGD:1606548	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1564691	Gon4l	gon-4 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564691	Gon4l	gon-4 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564691	Gon4l	gon-4 like	gene	DOID:9009358	Li-Takada-Miyake syndrome		ISO	RGD:1606548	D	RGD:7240710	20250730	OMIM			
1564691	Gon4l	gon-4 like	gene	DOID:9009358	Li-Takada-Miyake syndrome		ISO	RGD:1606548	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GON4L-related disorder | ClinVar Annotator: match by term: LI-TAKADA-MIYAKE SYNDROME	
1564691	Gon4l	gon-4 like	gene	DOID:9256	colorectal cancer		ISO	RGD:1606548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564700	Ubp1	upstream binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1345367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564700	Ubp1	upstream binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564703	Fer1l6	fer-1-like family member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1625099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564703	Fer1l6	fer-1-like family member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1625099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564703	Fer1l6	fer-1-like family member 6	gene	DOID:1909	melanoma		ISO	RGD:1625099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564706	Obi1	ORC ubiquitin ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564706	Obi1	ORC ubiquitin ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564706	Obi1	ORC ubiquitin ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:1354147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564706	Obi1	ORC ubiquitin ligase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564706	Obi1	ORC ubiquitin ligase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1354147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:0060058	lymphoma		ISO	RGD:1348616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:0080746	Sweet syndrome		ISO	RGD:1348616	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute febrile neutrophilic dermatosis	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:1003	pelvic inflammatory disease		ISO	RGD:1348616	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PID	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:10534	stomach cancer		ISO	RGD:1348616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:1324	lung cancer		ISO	RGD:1348616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:1526	panniculitis		ISO	RGD:1348616	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Panniculitis	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:1909	melanoma		ISO	RGD:1348616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:4362	cervical cancer		ISO	RGD:1348616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1348616	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:583	hemolytic anemia		ISO	RGD:1348616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:9005768	Thinness		ISO	RGD:1348616	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: underweight	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:9006328	AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED		ISO	RGD:1348616	D	RGD:7240710	20230809	OMIM			
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:9006328	AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED		ISO	RGD:1348616	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED | ClinVar Annotator: match by term: Autoinflammatory disease, multisystem, with immune dysregulation, X-linked | ClinVar Annotator: match by term: DOCK11 deficiency	PMID:25741868|PMID:32135276|PMID:36952639|PMID:37342957
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564707	Dock11	dedicator of cytokinesis 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:10283	prostate cancer		ISO	RGD:1350599	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:12849	autistic disorder		ISO	RGD:1350599	D	RGD:8554872	20250121	ClinVar		ClinVar Annotator: match by term: KATNAL2-related autism	PMID:25741868
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:1324	lung cancer		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:3275	thymoma		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350599	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:630	genetic disease		ISO	RGD:1350599	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350599	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564708	Katnal2	katanin catalytic subunit A1 like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1564710	Dnajc24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564710	Dnajc24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:3275	thymoma		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564710	Dnajc24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564710	Dnajc24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350551	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564710	Dnajc24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564710	Dnajc24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:9256	colorectal cancer		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564713	Fam110c	family with sequence similarity 110, member C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564713	Fam110c	family with sequence similarity 110, member C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564717	Igsf9b	immunoglobulin superfamily, member 9B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564717	Igsf9b	immunoglobulin superfamily, member 9B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564717	Igsf9b	immunoglobulin superfamily, member 9B	gene	DOID:10534	stomach cancer		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564717	Igsf9b	immunoglobulin superfamily, member 9B	gene	DOID:1115	sarcoma		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564717	Igsf9b	immunoglobulin superfamily, member 9B	gene	DOID:1324	lung cancer		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564717	Igsf9b	immunoglobulin superfamily, member 9B	gene	DOID:1909	melanoma		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564717	Igsf9b	immunoglobulin superfamily, member 9B	gene	DOID:3275	thymoma		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564717	Igsf9b	immunoglobulin superfamily, member 9B	gene	DOID:4362	cervical cancer		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564717	Igsf9b	immunoglobulin superfamily, member 9B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604824	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564717	Igsf9b	immunoglobulin superfamily, member 9B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564717	Igsf9b	immunoglobulin superfamily, member 9B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564717	Igsf9b	immunoglobulin superfamily, member 9B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564717	Igsf9b	immunoglobulin superfamily, member 9B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604824	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564719	Faap24	FA core complex associated protein 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564719	Faap24	FA core complex associated protein 24	gene	DOID:1909	melanoma		ISO	RGD:1605898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564719	Faap24	FA core complex associated protein 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1605898	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564719	Faap24	FA core complex associated protein 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564719	Faap24	FA core complex associated protein 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564722	Izumo4	IZUMO family member 4	gene	DOID:1324	lung cancer		ISO	RGD:1349340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564722	Izumo4	IZUMO family member 4	gene	DOID:1909	melanoma		ISO	RGD:1349340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564722	Izumo4	IZUMO family member 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564722	Izumo4	IZUMO family member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564722	Izumo4	IZUMO family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564722	Izumo4	IZUMO family member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349340	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564723	Naa11	N(alpha)-acetyltransferase 11, NatA catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1625645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:0051022	visceral heterotaxy 8		ISO	RGD:1352736	D	RGD:7240710	20190315	OMIM			
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:0051022	visceral heterotaxy 8		ISO	RGD:1352736	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 8, AUTOSOMAL | ClinVar Annotator: match by term: Heterotaxy, visceral, 8, autosomal | ClinVar Annotator: match by term: PKD1L1-related condition	PMID:25741868|PMID:27616478|PMID:28492532|PMID:30664273|PMID:31026592|PMID:32111882|PMID:33131162|PMID:34008892
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:0060646	congenital chylothorax		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital chylothorax	PMID:25741868|PMID:38247840
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	PMID:25741868|PMID:27616478|PMID:30664273|PMID:32111882
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:10534	stomach cancer		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:1115	sarcoma		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:12849	autistic disorder		ISO	RGD:1352736	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:2394	ovarian cancer		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:3275	thymoma		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:4362	cervical cancer		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:5041	esophageal cancer		ISO	RGD:1352736	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:630	genetic disease		ISO	RGD:1352736	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27616478|PMID:28492532|PMID:30664273|PMID:32111882
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1352736	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	PMID:25741868|PMID:27616478|PMID:30664273|PMID:32111882
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:674	cleft palate		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1352736	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Situs inversus	PMID:25741868|PMID:27616478|PMID:30664273|PMID:32111882
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:758	visceral heterotaxy 5	susceptibility	ISO	RGD:1615749	D	RGD:155630601|PMID:20080492	20221024	RGD			
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:9000438	Subarachnoid Hemorrhage	susceptibility	ISO	RGD:1352736	D	RGD:155630602|PMID:16741147	20221024	RGD		DNA:polymorphism:cds:p.Gly243Asp(human)	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1352736	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary artery atresia	PMID:25741868|PMID:27616478|PMID:30664273|PMID:32111882
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:9007614	Paroxysmal Atrial Fibrillation		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paroxysmal atrial fibrillation	PMID:25741868|PMID:27616478|PMID:30622330
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564724	Pkd1l1	polycystin 1 like 1, transient receptor potential channel interacting	gene	DOID:9565	dextrocardia		ISO	RGD:1352736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dextrocardia	PMID:25741868
1564725	Alg11	ALG11, alpha-1,2-mannosyltransferase	gene	DOID:0080567	congenital disorder of glycosylation Ip		ISO	RGD:1604899	D	RGD:7240710	20130221	OMIM			
1564725	Alg11	ALG11, alpha-1,2-mannosyltransferase	gene	DOID:0080567	congenital disorder of glycosylation Ip		ISO	RGD:1604899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALG11-congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P	PMID:25741868|PMID:28492532|PMID:28649519|PMID:30676690|PMID:38733638
1564725	Alg11	ALG11, alpha-1,2-mannosyltransferase	gene	DOID:10316	pneumoconiosis		ISO	RGD:1604899	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
1564725	Alg11	ALG11, alpha-1,2-mannosyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1604899	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
1564725	Alg11	ALG11, alpha-1,2-mannosyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564725	Alg11	ALG11, alpha-1,2-mannosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1604899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564725	Alg11	ALG11, alpha-1,2-mannosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564725	Alg11	ALG11, alpha-1,2-mannosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1604899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:28649519
1564725	Alg11	ALG11, alpha-1,2-mannosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564725	Alg11	ALG11, alpha-1,2-mannosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564726	Zfp341	zinc finger protein 341	gene	DOID:0080595	autosomal recessive hyper-IgE syndrome 3 with recurrent infections		ISO	RGD:1346802	D	RGD:7240710	20190315	OMIM			
1564726	Zfp341	zinc finger protein 341	gene	DOID:0080595	autosomal recessive hyper-IgE syndrome 3 with recurrent infections		ISO	RGD:1346802	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: HYPER-IgE SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive | ClinVar Annotator: match by term: ZNF341-related condition	PMID:25741868|PMID:28492532|PMID:29907690|PMID:29907691
1564726	Zfp341	zinc finger protein 341	gene	DOID:10534	stomach cancer		ISO	RGD:1346802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564726	Zfp341	zinc finger protein 341	gene	DOID:3261	autosomal dominant hyper-IgE syndrome 1 with recurrent infections		ISO	RGD:1346802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant	
1564726	Zfp341	zinc finger protein 341	gene	DOID:5041	esophageal cancer		ISO	RGD:1346802	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564726	Zfp341	zinc finger protein 341	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564726	Zfp341	zinc finger protein 341	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564729	Gpr150	G protein-coupled receptor 150	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1343055	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:17303177
1564729	Gpr150	G protein-coupled receptor 150	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1343055	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1564740	Nr6a1	nuclear receptor subfamily 6, group A, member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564740	Nr6a1	nuclear receptor subfamily 6, group A, member 1	gene	DOID:0111807	syndromic microphthalmia 9		ISO	RGD:1345014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome	PMID:25741868
1564740	Nr6a1	nuclear receptor subfamily 6, group A, member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564740	Nr6a1	nuclear receptor subfamily 6, group A, member 1	gene	DOID:1909	melanoma		ISO	RGD:1345014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564740	Nr6a1	nuclear receptor subfamily 6, group A, member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564740	Nr6a1	nuclear receptor subfamily 6, group A, member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564740	Nr6a1	nuclear receptor subfamily 6, group A, member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564740	Nr6a1	nuclear receptor subfamily 6, group A, member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564740	Nr6a1	nuclear receptor subfamily 6, group A, member 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564740	Nr6a1	nuclear receptor subfamily 6, group A, member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564740	Nr6a1	nuclear receptor subfamily 6, group A, member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564745	Mroh9	maestro heat-like repeat family member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564745	Mroh9	maestro heat-like repeat family member 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564745	Mroh9	maestro heat-like repeat family member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1602210	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564745	Mroh9	maestro heat-like repeat family member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564745	Mroh9	maestro heat-like repeat family member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564745	Mroh9	maestro heat-like repeat family member 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1602210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564746	Ube2s	ubiquitin-conjugating enzyme E2S	gene	DOID:10534	stomach cancer		ISO	RGD:1343646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564746	Ube2s	ubiquitin-conjugating enzyme E2S	gene	DOID:4362	cervical cancer		ISO	RGD:1343646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564746	Ube2s	ubiquitin-conjugating enzyme E2S	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564749	Bex4	brain expressed, X-linked 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564749	Bex4	brain expressed, X-linked 4	gene	DOID:1115	sarcoma		ISO	RGD:1352390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564749	Bex4	brain expressed, X-linked 4	gene	DOID:13580	cholestasis		ISO	RGD:1352390	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
1564749	Bex4	brain expressed, X-linked 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564749	Bex4	brain expressed, X-linked 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564751	Usp50	ubiquitin specific peptidase 50	gene	DOID:1909	melanoma		ISO	RGD:1343119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564751	Usp50	ubiquitin specific peptidase 50	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564751	Usp50	ubiquitin specific peptidase 50	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564751	Usp50	ubiquitin specific peptidase 50	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564753	Pum3	pumilio RNA-binding family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564753	Pum3	pumilio RNA-binding family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564753	Pum3	pumilio RNA-binding family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564753	Pum3	pumilio RNA-binding family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564753	Pum3	pumilio RNA-binding family member 3	gene	DOID:1909	melanoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564753	Pum3	pumilio RNA-binding family member 3	gene	DOID:3275	thymoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564753	Pum3	pumilio RNA-binding family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564753	Pum3	pumilio RNA-binding family member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564753	Pum3	pumilio RNA-binding family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564753	Pum3	pumilio RNA-binding family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564753	Pum3	pumilio RNA-binding family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564753	Pum3	pumilio RNA-binding family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564753	Pum3	pumilio RNA-binding family member 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564754	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:0080863	primary ovarian insufficiency 6		ISO	RGD:1602165	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564754	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:0080863	primary ovarian insufficiency 6		ISO	RGD:1602165	D	RGD:7240710	20130425	OMIM			
1564754	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:0080863	primary ovarian insufficiency 6		ISO	RGD:1602165	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FIGLA-related condition | ClinVar Annotator: match by term: Premature ovarian failure 6	PMID:25314148|PMID:25741868
1564754	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1602165	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
1564754	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564754	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1602165	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
1564754	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564754	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564754	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:630	genetic disease		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1564754	Figla	folliculogenesis specific bHLH transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564760	Hmg20a	high mobility group 20A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564760	Hmg20a	high mobility group 20A	gene	DOID:1324	lung cancer		ISO	RGD:1350467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564760	Hmg20a	high mobility group 20A	gene	DOID:3275	thymoma		ISO	RGD:1350467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564760	Hmg20a	high mobility group 20A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564760	Hmg20a	high mobility group 20A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564760	Hmg20a	high mobility group 20A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564760	Hmg20a	high mobility group 20A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564760	Hmg20a	high mobility group 20A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1350467	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21874001
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:0060058	lymphoma		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:10534	stomach cancer		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:1324	lung cancer		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:1909	melanoma		ISO	RGD:1605128	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17145863
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:1909	melanoma		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:2373	hereditary elliptocytosis		ISO	RGD:1605128	D	RGD:11252097|PMID:17994571	20160624	RGD		associated with Myelodysplastic-Myeloproliferative Diseases	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:2373	hereditary elliptocytosis		ISO	RGD:1605128	D	RGD:8554872	20160308	ClinVar		ClinVar Annotator: match by term: Hereditary elliptocytosis	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:2373	hereditary elliptocytosis		ISS	RGD:1605128	D	RGD:13592920	20180518	MouseDO		OMIM:130600 | OMIM:611804	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:4362	cervical cancer		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605128	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:583	hemolytic anemia		ISO	RGD:1557540	D	RGD:11252099|PMID:9927493	20160624	RGD			
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:630	genetic disease		ISO	RGD:1605128	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1557540	D	RGD:11252098|PMID:9822582	20160624	RGD			
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9005732	Elliptocytosis 1		ISO	RGD:1605128	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9005732	Elliptocytosis 1		ISO	RGD:1605128	D	RGD:7240710	20130425	OMIM			
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9005732	Elliptocytosis 1		ISO	RGD:1605128	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ELLIPTOCYTOSIS 1 | ClinVar Annotator: match by term: EPB41-related disorder | ClinVar Annotator: match by term: Elliptocytosis 1 | ClinVar Annotator: match by term: PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF | ClinVar Annotator: match by term: elliptocytosis 1	PMID:25741868|PMID:28492532|PMID:38397451
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564762	Epb41	erythrocyte membrane protein band 4.1	gene	DOID:9834	hyperopia		ISO	RGD:1605128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1564765	Defb25	defensin beta 25	gene	DOID:1324	lung cancer		ISO	RGD:1347867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564767	H2ac13	H2A clustered histone 13	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1353821	D	RGD:11554173	20171226	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:1909	melanoma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:3068	glioblastoma		ISO	RGD:1605668	D	RGD:10761721|PMID:25126583	20160205	RGD		mRNA, protein:increased expression:brain	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:3275	thymoma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:3587	pancreatic ductal carcinoma	treatment	ISO	RGD:1605668	D	RGD:10761108|PMID:26676747	20160205	RGD			
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605668	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564769	Heatr1	HEAT repeat containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1605668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564770	Clec2m	C-type lectin domain family 2, member M	gene	DOID:13241	Behcet's disease		ISO	RGD:1342769	D	RGD:11554173	20260721	CTD		CTD Direct Evidence: marker/mechanism	PMID:23291587
1564770	Clec2m	C-type lectin domain family 2, member M	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1342769	D	RGD:11554173	20260721	CTD		CTD Direct Evidence: marker/mechanism	PMID:18006695
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:27993330|PMID:28726821
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1352934	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Chemke syndrome	PMID:25741868|PMID:28492532
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0050847	sleep apnea		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:33504798
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0050902	medulloblastoma		ISO	RGD:1352934	D	RGD:11554173	20220705	CTD		CTD Direct Evidence: marker/mechanism	PMID:27058758
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0050902	medulloblastoma		ISO	RGD:1352934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA | ClinVar Annotator: match by term: Medulloblastoma	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0060046	aphasia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aphasia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0060058	lymphoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0060249	scoliosis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0060309	syndromic X-linked intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: X-linked syndromic intellectual disability	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0060320	inguinal hernia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0060604	ankyloglossia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 16	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:31474318
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0070777	syndromic X-linked intellectual developmental disorder, Snijders Blok type		ISO	RGD:1352934	D	RGD:7240710	20151209	OMIM			
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0070777	syndromic X-linked intellectual developmental disorder, Snijders Blok type		ISO	RGD:1352934	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DDX3X-related X-linked intellectual disability | ClinVar Annotator: match by term: DDX3X-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Snijders Blok type	PMID:17576681|PMID:22722829|PMID:22820256|PMID:22832583|PMID:25533962|PMID:2563148|PMID:25741868|PMID:26091043|PMID:26235985|PMID:26582918|PMID:27058758|PMID:27159028|PMID:27180681|PMID:27993330|PMID:28327206|PMID:28467829|PMID:28492532|PMID:28726821|PMID:29302074|PMID:29490693|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30765705|PMID:30817323|PMID:31216476|PMID:31300642|PMID:31574483|PMID:31618753|PMID:32135084|PMID:32371413|PMID:32553121|PMID:33057194|PMID:33149276|PMID:33230298|PMID:33258288|PMID:33460649|PMID:33504798|PMID:33627125|PMID:33692367|PMID:33741928|PMID:33993884|PMID:34008892|PMID:34356170|PMID:35121978|PMID:35392274|PMID:35982159|PMID:36114283|PMID:36219477|PMID:38057330|PMID:38177409|PMID:38421120|PMID:9536098
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1352934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:21779027|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25724843|PMID:25741868|PMID:26235985|PMID:26598523|PMID:26822237|PMID:27058758|PMID:27180681|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30734472|PMID:30765705|PMID:31574483|PMID:32135084|PMID:32371413|PMID:32553121|PMID:33149276|PMID:33460649|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34185076|PMID:34356170|PMID:37422363|PMID:38057330
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0080703	medulloblastoma SHH activated		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084|PMID:33741928
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0080704	medulloblastoma SHH activated and TP53 mutant		ISO	RGD:1352934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated and TP53 mutant	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:27993330|PMID:28726821|PMID:32135084|PMID:38057330
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0080705	medulloblastoma SHH activated and TP53 wild-type		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated and TP53 wild-type	PMID:22722829|PMID:22820256|PMID:22832583|PMID:24651015|PMID:25741868|PMID:26235985|PMID:27180681|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30734472|PMID:32135084|PMID:33504798|PMID:33627125|PMID:33741928|PMID:38057330
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25724843|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33741928|PMID:33993884|PMID:34356170|PMID:37422363|PMID:38057330
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0080708	medulloblastoma non-WNT/non-SHH group 4		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 4	PMID:22722829|PMID:22820256|PMID:22832583|PMID:27993330|PMID:28726821
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0080833	laryngomalacia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0080918	polymicrogyria		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0080920	bilateral generalized polymicrogyria		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral generalized polymicrogyria	PMID:25741868|PMID:26235985|PMID:30349862|PMID:31274575|PMID:32852922
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1352934	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192917
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron accumulation in brain	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:25741868|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868|PMID:26235985|PMID:28492532|PMID:30349862|PMID:32165824|PMID:34008892
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30817323|PMID:31618753|PMID:31785789|PMID:32135084|PMID:32371413|PMID:32714884|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34008892|PMID:34356170|PMID:38177409|PMID:38284452
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30817323|PMID:31618753|PMID:31785789|PMID:32135084|PMID:32371413|PMID:32714884|PMID:33258288|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34008892|PMID:34356170|PMID:36114283|PMID:38177409|PMID:38284452
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: severe intellectual disability	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27159028|PMID:27993330|PMID:28327206|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30817323|PMID:31618753|PMID:31785789|PMID:32135084|PMID:32371413|PMID:32714884|PMID:33258288|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34008892|PMID:34356170|PMID:36114283|PMID:38177409|PMID:38284452
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary open angle glaucoma	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:10907	microcephaly		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084|PMID:32714884|PMID:33504798|PMID:33627125
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:10908	hydrocephalus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Ventriculomegaly	PMID:12535527|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32135084|PMID:32371413|PMID:33993884|PMID:34356170
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:26235985|PMID:27159028|PMID:28327206|PMID:28492532|PMID:30817323|PMID:31618753|PMID:32371413|PMID:33504798
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:11111	hydronephrosis		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:33504798
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1115	sarcoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1143	exotropia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33993884|PMID:34356170
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:11714	gestational diabetes		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:12535527|PMID:25741868|PMID:30349862
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:11782	astigmatism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:12535527|PMID:33504798
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:11830	myopia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:12215	oligohydramnios		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1247	blood coagulation disease		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:12639	pyloric stenosis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyloric stenosis	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:12849	autistic disorder		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868|PMID:30349862
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25382417|PMID:35101336
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1459	hypothyroidism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:26235985|PMID:28492532
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:14766	renal agenesis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1596	depressive disorder		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1612	breast cancer	exacerbates	ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		protein:increased expression:breast, nucleus (human)	PMID:28761359|REF_RGD_ID:151356502
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1657	ventricular septal defect		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:30349862
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1352934	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:26928227
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1826	epilepsy		ISO	RGD:1352934	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1826	epilepsy		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33504798|PMID:33993884|PMID:34356170
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1909	melanoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:1969	cerebral palsy		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:2030	anxiety disorder		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:26235985|PMID:27159028|PMID:28327206|PMID:28492532|PMID:30817323|PMID:31618753|PMID:32371413
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:2340	craniosynostosis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker syndrome	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33993884|PMID:34356170
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:33504798
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:3144	cutis laxa		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:420	hypertrichosis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:4362	cervical cancer		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1352934	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:24183723
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:540	strabismus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32135084
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:543	dystonia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:5723	optic atrophy		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:630	genetic disease		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12535527|PMID:17631897|PMID:22722829|PMID:22820256|PMID:22832583|PMID:25533962|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27058758|PMID:27159028|PMID:27993330|PMID:28327206|PMID:28333917|PMID:28371085|PMID:28492532|PMID:28726821|PMID:29490693|PMID:30125339|PMID:30734472|PMID:30817323|PMID:31618753|PMID:32135084|PMID:32371413|PMID:32553121|PMID:33149276|PMID:33460649|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34356170|PMID:38421120
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:674	cleft palate		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:30349862
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Juvenile rheumatoid arthritis	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1557808	D	RGD:151356499|PMID:30297359	20220208	RGD			
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:684	hepatocellular carcinoma	sexual_dimorphism	ISO	RGD:1352934	D	RGD:151356660|PMID:16301996	20220209	RGD		associated with hepatitis B; mRNA,protein:decreased expression:liver (human)	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:769	neuroblastoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:21779027|PMID:23202128|PMID:26192917|PMID:27993330|PMID:30523111|PMID:38057330
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:7998	hyperthyroidism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:83	cataract		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:8398	osteoarthritis		ISO	RGD:1352934	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:8649	tongue cancer	ameliorates	ISO	RGD:1557808	D	RGD:151356506|PMID:25918862	20220208	RGD			
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:870	neuropathy		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:8927	learning disability		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:26235985|PMID:27159028|PMID:28327206|PMID:28492532|PMID:30817323|PMID:31618753|PMID:32371413
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9000495	Tremor		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vocal cord paralysis	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9000962	Snoring		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Snoring	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1352934	D	RGD:11096798|PMID:26087195	20220210	RGD		human cells in mouse model	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9000966	Night Terror		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep terror	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9001031	Retrognathia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9001581	Constipation		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9002554	Tachycardia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:27159028
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9002569	Overweight		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral hemorrhage	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9002969	Nevus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9003132	Sialorrhea		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9003133	Hypertelorism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27159028|PMID:27993330|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9003816	Macrocephaly		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33993884|PMID:34356170
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9004014	Adducted Thumbs Syndrome		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumbs, congenital Clasped	PMID:12535527
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352934	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889|PMID:29942082
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9004507	Hirsutism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:27159028
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9004866	Ataxia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: ataxia	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9004934	BILATERAL CLEFT LIP		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cleft lip	PMID:25741868|PMID:30349862
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9005077	Joint Instability		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:33504798|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:12535527|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32135084|PMID:32371413|PMID:33993884|PMID:34356170
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9005616	Micrognathism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084|PMID:32371413|PMID:33993884|PMID:34356170
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9006735	Overriding Aorta		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overriding aorta	PMID:25741868|PMID:30349862
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1352934	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:22722829|PMID:22820256|PMID:22832583|PMID:24651015|PMID:25724843|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30581057|PMID:33627125|PMID:33741928|PMID:38057330
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	PMID:12535527
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9007573	Flatfoot		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9007661	Dwarfism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084|PMID:32714884|PMID:33627125
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9007722	Myoclonus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:12535527|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:25741895|PMID:26235985|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32371413|PMID:33504798|PMID:33993884|PMID:34356170|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9008214	Genu Valgum		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9008421	Epistaxis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868|PMID:38177409
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9008965	Bronchomalacia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchomalacia	PMID:25741868|PMID:30349862
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:12535527
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:12535527|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:25741868|PMID:33504798
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9256	colorectal cancer		ISO	RGD:1352934	D	RGD:151356658|PMID:31391454	20220209	RGD		protein:increased expression:colorectum (human)	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1352934	D	RGD:151356658|PMID:31391454	20220209	RGD		human cells in mouse model	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1352934	D	RGD:151356503|PMID:26892600	20220208	RGD		protein:increased expression:colorectum (human)	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1352934	D	RGD:151356505|PMID:27007150	20220208	RGD		protein:increased expression:colorectum (human)	
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1352934	D	RGD:11096798|PMID:26087195	20220209	RGD			
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:27159028
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9834	hyperopia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9840	esotropia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:27159028
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9970	obesity		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:26235985|PMID:27159028|PMID:28327206|PMID:28492532|PMID:30817323|PMID:31618753|PMID:32371413|PMID:33504798
1564771	Ddx3x	DEAD-box helicase 3, X-linked	gene	DOID:9993	hypoglycemia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
1564772	Hmcn1	hemicentin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564772	Hmcn1	hemicentin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564772	Hmcn1	hemicentin 1	gene	DOID:0110014	age related macular degeneration 1		ISO	RGD:1605323	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564772	Hmcn1	hemicentin 1	gene	DOID:0110014	age related macular degeneration 1		ISO	RGD:1605323	D	RGD:7240710	20130425	OMIM			
1564772	Hmcn1	hemicentin 1	gene	DOID:0110014	age related macular degeneration 1		ISO	RGD:1605323	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: HMCN1-related condition | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 1	PMID:14570714|PMID:17576681|PMID:25133751|PMID:25338956|PMID:25741868|PMID:27007659|PMID:28492532|PMID:9536098
1564772	Hmcn1	hemicentin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1605323	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1564772	Hmcn1	hemicentin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1605323	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1564772	Hmcn1	hemicentin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564772	Hmcn1	hemicentin 1	gene	DOID:1115	sarcoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564772	Hmcn1	hemicentin 1	gene	DOID:1324	lung cancer		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564772	Hmcn1	hemicentin 1	gene	DOID:1909	melanoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564772	Hmcn1	hemicentin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564772	Hmcn1	hemicentin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564772	Hmcn1	hemicentin 1	gene	DOID:3275	thymoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564772	Hmcn1	hemicentin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564772	Hmcn1	hemicentin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564772	Hmcn1	hemicentin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564772	Hmcn1	hemicentin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564772	Hmcn1	hemicentin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564772	Hmcn1	hemicentin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564772	Hmcn1	hemicentin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564772	Hmcn1	hemicentin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564772	Hmcn1	hemicentin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564772	Hmcn1	hemicentin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564772	Hmcn1	hemicentin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564773	Galntl6	polypeptide N-acetylgalactosaminyltransferase-like 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564773	Galntl6	polypeptide N-acetylgalactosaminyltransferase-like 6	gene	DOID:1324	lung cancer		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564773	Galntl6	polypeptide N-acetylgalactosaminyltransferase-like 6	gene	DOID:3275	thymoma		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564773	Galntl6	polypeptide N-acetylgalactosaminyltransferase-like 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564773	Galntl6	polypeptide N-acetylgalactosaminyltransferase-like 6	gene	DOID:4362	cervical cancer		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564773	Galntl6	polypeptide N-acetylgalactosaminyltransferase-like 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564773	Galntl6	polypeptide N-acetylgalactosaminyltransferase-like 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
1564773	Galntl6	polypeptide N-acetylgalactosaminyltransferase-like 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2301498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564776	Azin2	antizyme inhibitor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564776	Azin2	antizyme inhibitor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564776	Azin2	antizyme inhibitor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606188	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564776	Azin2	antizyme inhibitor 2	gene	DOID:1115	sarcoma		ISO	RGD:1606188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564776	Azin2	antizyme inhibitor 2	gene	DOID:1909	melanoma		ISO	RGD:1606188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564776	Azin2	antizyme inhibitor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564776	Azin2	antizyme inhibitor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606188	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564777	Rnf185	ring finger protein 185	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602840	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564777	Rnf185	ring finger protein 185	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564777	Rnf185	ring finger protein 185	gene	DOID:1115	sarcoma		ISO	RGD:1602840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564777	Rnf185	ring finger protein 185	gene	DOID:1324	lung cancer		ISO	RGD:1602840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564777	Rnf185	ring finger protein 185	gene	DOID:5041	esophageal cancer		ISO	RGD:1602840	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564777	Rnf185	ring finger protein 185	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564777	Rnf185	ring finger protein 185	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564777	Rnf185	ring finger protein 185	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564778	Msl1	MSL complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564778	Msl1	MSL complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564778	Msl1	MSL complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564778	Msl1	MSL complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564778	Msl1	MSL complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564778	Msl1	MSL complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564778	Msl1	MSL complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564778	Msl1	MSL complex subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564778	Msl1	MSL complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564778	Msl1	MSL complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564779	Synpo2	synaptopodin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564779	Synpo2	synaptopodin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564779	Synpo2	synaptopodin 2	gene	DOID:3275	thymoma		ISO	RGD:1344756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564779	Synpo2	synaptopodin 2	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1344756	D	RGD:11554173	20221213	CTD		CTD Direct Evidence: marker/mechanism	PMID:25581431
1564779	Synpo2	synaptopodin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344756	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564779	Synpo2	synaptopodin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564779	Synpo2	synaptopodin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1348980	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:1115	sarcoma		ISO	RGD:1348980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:1909	melanoma		ISO	RGD:1348980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:4362	cervical cancer		ISO	RGD:1348980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1348980	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348980	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564784	Zfyve16	zinc finger FYVE-type containing 16	gene	DOID:9565	dextrocardia		ISO	RGD:1348980	D	RGD:8554872	20190312	ClinVar		ClinVar Annotator: match by term: Dextrocardia	
1564787	Srp72	signal recognition particle 72	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564787	Srp72	signal recognition particle 72	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564787	Srp72	signal recognition particle 72	gene	DOID:10534	stomach cancer		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564787	Srp72	signal recognition particle 72	gene	DOID:1115	sarcoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564787	Srp72	signal recognition particle 72	gene	DOID:1324	lung cancer		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564787	Srp72	signal recognition particle 72	gene	DOID:13580	cholestasis		ISO	RGD:1314481	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1564787	Srp72	signal recognition particle 72	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564787	Srp72	signal recognition particle 72	gene	DOID:3070	high grade glioma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564787	Srp72	signal recognition particle 72	gene	DOID:4362	cervical cancer		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564787	Srp72	signal recognition particle 72	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564787	Srp72	signal recognition particle 72	gene	DOID:4961	bone marrow disease		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:25741868|PMID:28492532
1564787	Srp72	signal recognition particle 72	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564787	Srp72	signal recognition particle 72	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1564787	Srp72	signal recognition particle 72	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1564787	Srp72	signal recognition particle 72	gene	DOID:9001587	Bone Marrow Failure Syndrome 1		ISO	RGD:1314481	D	RGD:7240710	20150304	OMIM			
1564787	Srp72	signal recognition particle 72	gene	DOID:9001587	Bone Marrow Failure Syndrome 1		ISO	RGD:1314481	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 1 | ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition	PMID:17576681|PMID:22541560|PMID:25741868|PMID:28492532|PMID:9536098
1564787	Srp72	signal recognition particle 72	gene	DOID:9004906	Congenital Bone Marrow Failure Syndromes		ISO	RGD:1314481	D	RGD:11554173	20200211	CTD		CTD Direct Evidence: marker/mechanism	
1564787	Srp72	signal recognition particle 72	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1564787	Srp72	signal recognition particle 72	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564787	Srp72	signal recognition particle 72	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1314481	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
1564787	Srp72	signal recognition particle 72	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564788	Wrn	WRN RecQ like helicase	gene	DOID:0050902	medulloblastoma		ISO	RGD:1318280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME	PMID:16673358|PMID:16786514|PMID:24033266|PMID:25182132|PMID:25390333|PMID:25741868|PMID:27667302|PMID:28492532|PMID:8968742|PMID:9225981
1564788	Wrn	WRN RecQ like helicase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564788	Wrn	WRN RecQ like helicase	gene	DOID:10534	stomach cancer		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564788	Wrn	WRN RecQ like helicase	gene	DOID:1115	sarcoma		ISO	RGD:1318280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1564788	Wrn	WRN RecQ like helicase	gene	DOID:11162	respiratory failure		ISO	RGD:1318280	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Progressive pulmonary failure	PMID:11863428|PMID:36214313
1564788	Wrn	WRN RecQ like helicase	gene	DOID:12176	goiter		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:1324	lung cancer		ISO	RGD:1318280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:1580	diffuse scleroderma		ISO	RGD:1318280	D	RGD:10042980|PMID:16906373	20150512	RGD			
1564788	Wrn	WRN RecQ like helicase	gene	DOID:1596	depressive disorder		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:1612	breast cancer		ISO	RGD:1318280	D	RGD:10042982|PMID:17301258	20150512	RGD			
1564788	Wrn	WRN RecQ like helicase	gene	DOID:1612	breast cancer		ISO	RGD:1318280	D	RGD:10042983|PMID:19205873	20150512	RGD		DNA:polymorphism: :p.L1074F (human)	
1564788	Wrn	WRN RecQ like helicase	gene	DOID:1612	breast cancer		ISO	RGD:1318280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cancer breast	PMID:10069711|PMID:10220139|PMID:16786514|PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:1909	melanoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564788	Wrn	WRN RecQ like helicase	gene	DOID:2030	anxiety disorder		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
1564788	Wrn	WRN RecQ like helicase	gene	DOID:2394	ovarian cancer		ISO	RGD:1318280	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:15609317|PMID:24728327|PMID:25637295|PMID:25741868|PMID:28492532|PMID:36964972
1564788	Wrn	WRN RecQ like helicase	gene	DOID:2394	ovarian cancer		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:15609317|PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:3070	high grade glioma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564788	Wrn	WRN RecQ like helicase	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:16673358|PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:3275	thymoma		ISO	RGD:1318280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:10069711|PMID:10220139|PMID:16786514|PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:3393	coronary artery disease		ISO	RGD:1318280	D	RGD:1580824|PMID:11186893	20121012	RGD			
1564788	Wrn	WRN RecQ like helicase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564788	Wrn	WRN RecQ like helicase	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1318280	D	RGD:1580820|PMID:15916825	20121012	RGD			
1564788	Wrn	WRN RecQ like helicase	gene	DOID:4362	cervical cancer		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318280	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1564788	Wrn	WRN RecQ like helicase	gene	DOID:5688	Werner syndrome		ISO	RGD:1318280	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21267443|PMID:22766507
1564788	Wrn	WRN RecQ like helicase	gene	DOID:5688	Werner syndrome		ISO	RGD:1318280	D	RGD:1580825|PMID:16673358	20121012	RGD			
1564788	Wrn	WRN RecQ like helicase	gene	DOID:5688	Werner syndrome		ISO	RGD:1318280	D	RGD:7240710	20130221	OMIM			
1564788	Wrn	WRN RecQ like helicase	gene	DOID:5688	Werner syndrome		ISO	RGD:1318280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: WERNER SYNDROME | ClinVar Annotator: match by term: Werner syndrome	PMID:10069711|PMID:10189141|PMID:10220139|PMID:10347997|PMID:10543396|PMID:10811130|PMID:12244128|PMID:15355988|PMID:15609317|PMID:15888165|PMID:16199547|PMID:16673358|PMID:16786514|PMID:17478382|PMID:17576681|PMID:18205852|PMID:18414213|PMID:18810497|PMID:19763152|PMID:19824023|PMID:20307669|PMID:20443122|PMID:20657174|PMID:20802463|PMID:22188495|PMID:22406018|PMID:23045531|PMID:23583337|PMID:23849162|PMID:24033266|PMID:25059010|PMID:25182132|PMID:25390333|PMID:25619955|PMID:25637295|PMID:25741868|PMID:26296701|PMID:26344056|PMID:26546047|PMID:26689913|PMID:26901136|PMID:27084275|PMID:27153395|PMID:27559010|PMID:27667302|PMID:28202063|PMID:28492532|PMID:28795391|PMID:28861129|PMID:29753700|PMID:30140198|PMID:30206203|PMID:30568144|PMID:30891318|PMID:32041611|PMID:32191290|PMID:34646395|PMID:36292687|PMID:37461096|PMID:8602509|PMID:8968742|PMID:9012406|PMID:9225981|PMID:9241267|PMID:9450180|PMID:9536098
1564788	Wrn	WRN RecQ like helicase	gene	DOID:5688	Werner syndrome		ISS	RGD:1557552	D	RGD:13592920	20230718	MouseDO		OMIM:277700	
1564788	Wrn	WRN RecQ like helicase	gene	DOID:5844	myocardial infarction		ISO	RGD:1318280	D	RGD:1580821|PMID:9021029	20121012	RGD			
1564788	Wrn	WRN RecQ like helicase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564788	Wrn	WRN RecQ like helicase	gene	DOID:630	genetic disease		ISO	RGD:1318280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:10069711|PMID:10220139|PMID:16786514|PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:811	lipodystrophy		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lipodystrophy	PMID:16673358|PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:83	cataract		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:20443122|PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9002644	Premature Aging		ISO	RGD:1318280	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21267443
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:25741868
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:10069711|PMID:10220139|PMID:16786514|PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipoproteinemia	PMID:16673358|PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9008840	DNA Repair-Deficiency Disorders		ISO	RGD:1318280	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:29616805
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9169	Wiskott-Aldrich syndrome		ISO	RGD:1318280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome	PMID:10069711|PMID:10220139|PMID:16786514|PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus	PMID:16673358|PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1557552	D	RGD:10042987|PMID:18295300	20150512	RGD			
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9452	steatotic liver disease		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:16673358|PMID:25741868|PMID:28492532
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9669	senile cataract	no_association	ISO	RGD:1318280	D	RGD:10042985|PMID:20808731	20150512	RGD		DNA:missense mutation:cds:p.C1367R (rs1346044) (human)	
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9669	senile cataract	susceptibility	ISO	RGD:1318280	D	RGD:10042984|PMID:23334603	20150512	RGD		DNA:missense mutation:cds:p.C1367R (rs1346044) (human)	
1564788	Wrn	WRN RecQ like helicase	gene	DOID:9834	hyperopia		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:0050127	sinusitis		ISO	RGD:1346821	D	RGD:5147389|PMID:21385388	20110803	RGD		mRNA,protein:decreased expression:nasal mucosa	
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:2841	asthma		ISO	RGD:1346821	D	RGD:11554173	20190514	CTD		CTD Direct Evidence: marker/mechanism	
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:2841	asthma		ISO	RGD:1346821	D	RGD:5144232|PMID:17218572	20110802	RGD		protein:increased expression:sputum	
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:2841	asthma		ISO	RGD:1346821	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASTHMA, SUSCEPTIBILITY TO	
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:2841	asthma		ISO	RGD:1558355	D	RGD:5128690|PMID:15531759	20110803	RGD		mRNA,protein:decreased expression:;lung	
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:2841	asthma		ISO	RGD:1558355	D	RGD:5144233|PMID:16456148	20110802	RGD			
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:2841	asthma	no_association	ISO	RGD:1346821	D	RGD:5144230|PMID:18201431	20110802	RGD		DNA:SNP:promoter:-112G>A (human)	
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:2841	asthma	severity	ISO	RGD:1346821	D	RGD:5144231|PMID:18089940	20110802	RGD		DNA:SNP:promoter:-112G>A (human)	
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1346821	D	RGD:5144229|PMID:11813133	20110802	RGD		DNA:SNP:promoter:-112G>A (human)	
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1346821	D	RGD:7240710	20190502	OMIM			
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1558355	D	RGD:5144129|PMID:21478551	20110801	RGD			
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1346821	D	RGD:5147390|PMID:20466451	20110803	RGD			
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:4481	allergic rhinitis	susceptibility	ISO	RGD:1346821	D	RGD:5144225|PMID:21410962	20110802	RGD		DNA:SNP: :rs7726552 (human)	
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:4483	rhinitis		ISO	RGD:1346821	D	RGD:5144232|PMID:17218572	20110802	RGD		protein:increased expression:sputum	
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:4483	rhinitis		ISO	RGD:1346821	D	RGD:5147389|PMID:21385388	20110803	RGD		mRNA,protein:decreased expression:nasal mucosa	
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1346821	D	RGD:5147392|PMID:19418968	20110803	RGD			
1564790	Scgb3a2	secretoglobin, family 3A, member 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1558355	D	RGD:5147390|PMID:20466451	20110803	RGD			
1564793	Stk38l	serine/threonine kinase 38 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564793	Stk38l	serine/threonine kinase 38 like	gene	DOID:10534	stomach cancer		ISO	RGD:1353936	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564793	Stk38l	serine/threonine kinase 38 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564793	Stk38l	serine/threonine kinase 38 like	gene	DOID:1115	sarcoma		ISO	RGD:1353936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564793	Stk38l	serine/threonine kinase 38 like	gene	DOID:1909	melanoma		ISO	RGD:1353936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564793	Stk38l	serine/threonine kinase 38 like	gene	DOID:3275	thymoma		ISO	RGD:1353936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564793	Stk38l	serine/threonine kinase 38 like	gene	DOID:4362	cervical cancer		ISO	RGD:1353936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564793	Stk38l	serine/threonine kinase 38 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564793	Stk38l	serine/threonine kinase 38 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564793	Stk38l	serine/threonine kinase 38 like	gene	DOID:8466	retinal degeneration		ISO	RGD:12346036	D	RGD:9068941	20250501	OMIA		Early retinal degeneration	PMID:10409424|PMID:12909371|PMID:20887780|PMID:21980341|PMID:22065099|PMID:24367709|PMID:24581223|PMID:2558906|PMID:30050836|PMID:30135513|PMID:3496233|PMID:38334230|PMID:8603863|PMID:8654508
1564793	Stk38l	serine/threonine kinase 38 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564793	Stk38l	serine/threonine kinase 38 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:0050861	colorectal adenocarcinoma	exacerbates	ISO	RGD:1322367	D	RGD:153323301|PMID:28830374	20220811	RGD		mRNA:decreased expression:colorectal mucosa (human)	
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1322367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypogonadotropic hypogonadism	PMID:25741868
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1322367	D	RGD:153323292|PMID:23029345	20220811	RGD		human cells in mouse model	
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:3907	lung squamous cell carcinoma	exacerbates	ISO	RGD:1322367	D	RGD:11079903|PMID:26132438	20220812	RGD		protein:decreased expression:lung (human)	
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1322367	D	RGD:153323303|PMID:21726823	20220812	RGD		mRNA,protein:decreased expression:lung (human)	
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:1322367	D	RGD:153323302|PMID:31432154	20220812	RGD		protein:decreased expression:esophagus (human)	
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1322367	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:7474	malignant pleural mesothelioma	exacerbates	ISO	RGD:1322367	D	RGD:153323312|PMID:25023662	20220812	RGD		mRNA:decreased expression:mesothelium of pleural cavity (human)	
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:1322367	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1322367	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20697358
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:9006637	Schizencephaly		ISO	RGD:1322367	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:9006637	Schizencephaly		ISO	RGD:1322367	D	RGD:7240710	20190327	OMIM			
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:9006637	Schizencephaly		ISO	RGD:1322367	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SCHIZENCEPHALY	
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564797	Emx2	empty spiracles homeobox 2	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1322367	D	RGD:153323291|PMID:27712600	20220811	RGD		human cells in mouse model	
1564799	Tmem47	transmembrane protein 47	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564799	Tmem47	transmembrane protein 47	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564799	Tmem47	transmembrane protein 47	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1343840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1564799	Tmem47	transmembrane protein 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564804	C5h1orf50	similar to human chromosome 1 open reading frame 50	gene	DOID:10534	stomach cancer		ISO	RGD:1350429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564804	C5h1orf50	similar to human chromosome 1 open reading frame 50	gene	DOID:1324	lung cancer		ISO	RGD:1350429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564804	C5h1orf50	similar to human chromosome 1 open reading frame 50	gene	DOID:4362	cervical cancer		ISO	RGD:1350429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564806	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564806	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:1324	lung cancer		ISO	RGD:1605870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564806	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564806	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1605870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564806	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564806	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:5132591|PMID:1476792	20110526	RGD		protein:decreased activity:mammary gland (rat)	
1564806	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564806	Uprt	uracil phosphoribosyltransferase homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564808	Usp46	ubiquitin specific peptidase 46	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564808	Usp46	ubiquitin specific peptidase 46	gene	DOID:1115	sarcoma		ISO	RGD:1344409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564808	Usp46	ubiquitin specific peptidase 46	gene	DOID:1324	lung cancer		ISO	RGD:1344409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564808	Usp46	ubiquitin specific peptidase 46	gene	DOID:3275	thymoma		ISO	RGD:1344409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564808	Usp46	ubiquitin specific peptidase 46	gene	DOID:4362	cervical cancer		ISO	RGD:1344409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564808	Usp46	ubiquitin specific peptidase 46	gene	DOID:5041	esophageal cancer		ISO	RGD:1344409	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564808	Usp46	ubiquitin specific peptidase 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564808	Usp46	ubiquitin specific peptidase 46	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1557334	D	RGD:11561325|PMID:27506785	20250327	RGD		mRNA:increased expression:nucleus accumbens (mouse)	
1564808	Usp46	ubiquitin specific peptidase 46	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564808	Usp46	ubiquitin specific peptidase 46	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564809	Fsd1l	fibronectin type III and SPRY domain containing 1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564809	Fsd1l	fibronectin type III and SPRY domain containing 1-like	gene	DOID:0070682	congenital hydrocephalus 1		ISO	RGD:1353389	D	RGD:8554872	20260505	ClinVar		ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1	PMID:25741868
1564809	Fsd1l	fibronectin type III and SPRY domain containing 1-like	gene	DOID:1115	sarcoma		ISO	RGD:1353389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564809	Fsd1l	fibronectin type III and SPRY domain containing 1-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564809	Fsd1l	fibronectin type III and SPRY domain containing 1-like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564809	Fsd1l	fibronectin type III and SPRY domain containing 1-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564809	Fsd1l	fibronectin type III and SPRY domain containing 1-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564811	Pp2d1	protein phosphatase 2C-like domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564813	Crispld1	cysteine-rich secretory protein LCCL domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564813	Crispld1	cysteine-rich secretory protein LCCL domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564813	Crispld1	cysteine-rich secretory protein LCCL domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564813	Crispld1	cysteine-rich secretory protein LCCL domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605927	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564813	Crispld1	cysteine-rich secretory protein LCCL domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564813	Crispld1	cysteine-rich secretory protein LCCL domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605927	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564813	Crispld1	cysteine-rich secretory protein LCCL domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564813	Crispld1	cysteine-rich secretory protein LCCL domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564813	Crispld1	cysteine-rich secretory protein LCCL domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564813	Crispld1	cysteine-rich secretory protein LCCL domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564813	Crispld1	cysteine-rich secretory protein LCCL domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564816	Stard13	StAR-related lipid transfer domain containing 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564816	Stard13	StAR-related lipid transfer domain containing 13	gene	DOID:0080600	COVID-19		ISO	RGD:1344085	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1564816	Stard13	StAR-related lipid transfer domain containing 13	gene	DOID:10534	stomach cancer		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564816	Stard13	StAR-related lipid transfer domain containing 13	gene	DOID:1909	melanoma		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564816	Stard13	StAR-related lipid transfer domain containing 13	gene	DOID:3275	thymoma		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564816	Stard13	StAR-related lipid transfer domain containing 13	gene	DOID:4362	cervical cancer		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564816	Stard13	StAR-related lipid transfer domain containing 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564816	Stard13	StAR-related lipid transfer domain containing 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564816	Stard13	StAR-related lipid transfer domain containing 13	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1344085	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1564816	Stard13	StAR-related lipid transfer domain containing 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564818	Lrrc25	leucine rich repeat containing 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564818	Lrrc25	leucine rich repeat containing 25	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564819	Arl6ip6	ARF like GTPase 6 interacting protein 6	gene	DOID:1115	sarcoma		ISO	RGD:1347021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564819	Arl6ip6	ARF like GTPase 6 interacting protein 6	gene	DOID:1324	lung cancer		ISO	RGD:1347021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564819	Arl6ip6	ARF like GTPase 6 interacting protein 6	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1347021	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868
1564819	Arl6ip6	ARF like GTPase 6 interacting protein 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564819	Arl6ip6	ARF like GTPase 6 interacting protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564819	Arl6ip6	ARF like GTPase 6 interacting protein 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564819	Arl6ip6	ARF like GTPase 6 interacting protein 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564820	Kctd18	potassium channel tetramerization domain containing 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564820	Kctd18	potassium channel tetramerization domain containing 18	gene	DOID:10534	stomach cancer		ISO	RGD:1346294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564820	Kctd18	potassium channel tetramerization domain containing 18	gene	DOID:1115	sarcoma		ISO	RGD:1346294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564820	Kctd18	potassium channel tetramerization domain containing 18	gene	DOID:1324	lung cancer		ISO	RGD:1346294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564820	Kctd18	potassium channel tetramerization domain containing 18	gene	DOID:3275	thymoma		ISO	RGD:1346294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564820	Kctd18	potassium channel tetramerization domain containing 18	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1564820	Kctd18	potassium channel tetramerization domain containing 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564820	Kctd18	potassium channel tetramerization domain containing 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564820	Kctd18	potassium channel tetramerization domain containing 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0050847	sleep apnea		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0060321	umbilical hernia		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0080070	mucolipidosis II alpha/beta		ISO	RGD:1603959	D	RGD:7240710	20161221	OMIM			
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0080070	mucolipidosis II alpha/beta		ISO	RGD:1603959	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Mucolipidosis type II	PMID:15633164|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17034777|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20301730|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:22495880|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23773965|PMID:23926388|PMID:24033266|PMID:24045841|PMID:24060719|PMID:24375680|PMID:24550498|PMID:24767253|PMID:24798265|PMID:24807205|PMID:25107912|PMID:25473036|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25741909|PMID:25741916|PMID:25788519|PMID:26130485|PMID:26274329|PMID:26385638|PMID:26633542|PMID:27180337|PMID:27239697|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28396763|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29140481|PMID:29704188|PMID:29872134|PMID:29966168|PMID:30105123|PMID:30208878|PMID:30882951|PMID:31003007|PMID:31130284|PMID:31319225|PMID:31405983|PMID:31579991|PMID:31589614|PMID:31603145|PMID:31785789|PMID:31795562|PMID:31934135|PMID:32014045|PMID:32341820|PMID:32651481|PMID:32746448|PMID:32860008|PMID:33000604|PMID:33594065|PMID:34008892|PMID:34426522|PMID:34440436|PMID:34645491|PMID:35463894|PMID:9536098
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0080070	mucolipidosis II alpha/beta		ISO	RGD:1603959	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GNPTAB-related condition | ClinVar Annotator: match by term: GNPTAB-related disorder | ClinVar Annotator: match by term: I cell disease | ClinVar Annotator: match by term: Inclusion cell disease | ClinVar Annotator: match by term: MUCOLIPIDOSIS II ALPHA/BETA | ClinVar Annotator: match by term: Mucolipidosis II | ClinVar Annotator: match by term: Mucolipidosis II alpha/beta | ClinVar Annotator: match by term: Mucolipidosis type II	PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17034777|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20301730|PMID:20886637|PMID:21416587|PMID:21549105|PMID:22495880|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23773965|PMID:23926388|PMID:24045841|PMID:24060719|PMID:24375680|PMID:24550498|PMID:24767253|PMID:24798265|PMID:24807205|PMID:25107912|PMID:25473036|PMID:25505245|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26274329|PMID:26385638|PMID:2651481|PMID:26633542|PMID:27239697|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28396763|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29140481|PMID:29704188|PMID:29872134|PMID:29966168|PMID:30208878|PMID:30882951|PMID:31003007|PMID:31130284|PMID:31319225|PMID:31405983|PMID:31579991|PMID:31589614|PMID:31603145|PMID:31785789|PMID:31795562|PMID:31934135|PMID:32014045|PMID:32036093|PMID:32220096|PMID:32651481|PMID:32746448|PMID:32860008|PMID:33000604|PMID:33594065|PMID:34008892|PMID:34341521|PMID:34342781|PMID:34426522|PMID:34645491|PMID:35005816|PMID:35463894|PMID:38837156|PMID:39710647|PMID:9536098
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0080070	mucolipidosis II alpha/beta		ISS	RGD:1617164	D	RGD:13592920	20230718	MouseDO		OMIM:252500	
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0080071	mucolipidosis III alpha/beta		ISO	RGD:1603959	D	RGD:7240710	20130221	OMIM			
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0080071	mucolipidosis III alpha/beta		ISO	RGD:1603959	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUCOLIPIDOSIS III ALPHA/BETA | ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta | ClinVar Annotator: match by term: Mucolipidosis III alpha/beta | ClinVar Annotator: match by term: Mucolipidosis type III, alpha/beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy	PMID:15633164|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:17576681|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20301728|PMID:21549105|PMID:23192343|PMID:23566849|PMID:24045841|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25741868|PMID:25788519|PMID:26385638|PMID:26749367|PMID:27180337|PMID:27662472|PMID:28492532|PMID:28649523|PMID:29872134|PMID:30105123|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31589614|PMID:31934135|PMID:32651481|PMID:34341521|PMID:34426522|PMID:34440436|PMID:9536098
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0080488	mucolipidosis		ISO	RGD:1603959	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mucolipidoses | ClinVar Annotator: match by term: Mucolipidosis	PMID:16199547|PMID:16465621|PMID:19617216|PMID:19634183|PMID:20301728|PMID:22570975|PMID:24033266|PMID:25107912|PMID:25741868|PMID:25788519|PMID:28492532|PMID:28649523|PMID:30882951
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:0111390	mucopolysaccharidosis Ih		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysostosis multiplex	PMID:25741868
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:1115	sarcoma		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:1283	enterocele		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:16199547|PMID:19617216|PMID:25107912|PMID:25741868|PMID:28492532|PMID:32651481
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:1324	lung cancer		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:1909	melanoma		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:2355	anemia		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:3275	thymoma		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:3343	glycoproteinosis		ISO	RGD:1603959	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy	PMID:15633164|PMID:16094673|PMID:16116615|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31934135|PMID:9536098
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:3343	glycoproteinosis		ISO	RGD:1603959	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Type III Mucolipidosis	PMID:15633164|PMID:16094673|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25741909|PMID:25788519|PMID:26130485|PMID:26385638|PMID:26633542|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31589614|PMID:31934135|PMID:32651481|PMID:34426522|PMID:34440436|PMID:34645491|PMID:9536098
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:3343	glycoproteinosis		ISO	RGD:1603959	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy	PMID:15633164|PMID:16094673|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26385638|PMID:26633542|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29704188|PMID:29872134|PMID:30105123|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31589614|PMID:31795562|PMID:31934135|PMID:32651481|PMID:34426522|PMID:34440436|PMID:34645491|PMID:9536098
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:3343	glycoproteinosis		ISO	RGD:1603959	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Type III Mucolipidosis	PMID:16199547|PMID:17576681|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20301728|PMID:23566849|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25741868|PMID:25788519|PMID:26385638|PMID:26749367|PMID:27180337|PMID:28492532|PMID:28649523|PMID:29872134|PMID:30882951|PMID:31579991|PMID:31589614|PMID:32651481|PMID:34426522|PMID:34440436|PMID:9536098
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:4362	cervical cancer		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:4702	mongolian spot		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:630	genetic disease		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:16199547|PMID:19617216|PMID:25107912|PMID:25741868|PMID:28492532|PMID:32651481
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:9007661	Dwarfism		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature	PMID:16199547|PMID:19617216|PMID:25107912|PMID:25741868|PMID:28492532|PMID:32651481
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564821	Gnptab	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	gene	DOID:930	orbital disease		ISO	RGD:1603959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:16199547|PMID:19617216|PMID:25107912|PMID:25741868|PMID:28492532|PMID:32651481
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:0080874	primary ovarian insufficiency 17		ISO	RGD:1349181	D	RGD:7240710	20210113	OMIM			
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:0080874	primary ovarian insufficiency 17		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure 17	PMID:25741868|PMID:28492532|PMID:28779002|PMID:28912153|PMID:33471991
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:0111085	Fanconi anemia complementation group U		ISO	RGD:1349181	D	RGD:7240710	20190315	OMIM			
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:0111085	Fanconi anemia complementation group U		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group U	PMID:25741868|PMID:28492532|PMID:28779002|PMID:28912153|PMID:33471991
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:0112272	spermatogenic failure 50		ISO	RGD:1349181	D	RGD:7240710	20210113	OMIM			
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:0112272	spermatogenic failure 50		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 50	PMID:25741868|PMID:28492532|PMID:28779002|PMID:28912153|PMID:30042186|PMID:30489636|PMID:33194656|PMID:33471991
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:1612	breast cancer		ISO	RGD:1349181	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25330149|PMID:25452441|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26845104|PMID:28492532|PMID:29053726|PMID:29641532|PMID:30322717|PMID:31173646|PMID:31463769|PMID:35988656|PMID:36290365|PMID:39003306
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1349181	D	RGD:2317365|PMID:16540687	20100331	RGD		DNA:SNP:exon:rs3218536 (human)	
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1349181	D	RGD:2317507|PMID:17986315	20100407	RGD		DNA:polymorphism: :p.R188H (human)	
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:3459	breast carcinoma		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:28492532
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1349181	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:29255180|PMID:32566746
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1349181	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28779002|PMID:29255180
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349181	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11118202|PMID:12455067|PMID:15855896|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29739106|PMID:29915322|PMID:30306255|PMID:30322717|PMID:31159747|PMID:31463769|PMID:9536098
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349181	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11118202|PMID:12455067|PMID:15855896|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29739106|PMID:29915322|PMID:30306255|PMID:30322717|PMID:31463769|PMID:9536098
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349181	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11118202|PMID:12455067|PMID:15855896|PMID:17557904|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:23383274|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28135048|PMID:28486781|PMID:28492532|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29641532|PMID:29739106|PMID:29915322|PMID:30042186|PMID:30306255|PMID:30322717|PMID:30489636|PMID:30613976|PMID:31159747|PMID:31463769|PMID:31779681|PMID:31911633|PMID:32235514|PMID:32658311|PMID:32832836|PMID:32860008|PMID:33194656|PMID:33471991|PMID:3471991|PMID:36113475|PMID:9536098
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349181	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11118202|PMID:12455067|PMID:15855896|PMID:16199547|PMID:17557904|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:23383274|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28135048|PMID:28486781|PMID:28492532|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29641532|PMID:29739106|PMID:29915322|PMID:30042186|PMID:30306255|PMID:30322717|PMID:30489636|PMID:30613976|PMID:31159747|PMID:31463769|PMID:31779681|PMID:31911633|PMID:32235514|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32860008|PMID:33194656|PMID:33332384|PMID:33471991|PMID:33558524|PMID:3471991|PMID:36113475|PMID:36672847|PMID:9536098
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349181	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11118202|PMID:12455067|PMID:15855896|PMID:16199547|PMID:17557904|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:23383274|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28135048|PMID:28486781|PMID:28492532|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29641532|PMID:29739106|PMID:29915322|PMID:30042186|PMID:30306255|PMID:30322717|PMID:30489636|PMID:30613976|PMID:31159747|PMID:31463769|PMID:31603477|PMID:31779681|PMID:31911633|PMID:32235514|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32860008|PMID:33194656|PMID:33332384|PMID:33471991|PMID:33558524|PMID:3471991|PMID:36113475|PMID:36266327|PMID:36672847|PMID:9536098
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349181	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11118202|PMID:12455067|PMID:15855896|PMID:16169065|PMID:16199547|PMID:17557904|PMID:17576681|PMID:21240073|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:23383274|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28135048|PMID:28486781|PMID:28492532|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29053726|PMID:29255180|PMID:29641532|PMID:29739106|PMID:29915322|PMID:30042186|PMID:30306255|PMID:30322717|PMID:30489636|PMID:30613976|PMID:31159747|PMID:31173646|PMID:31463769|PMID:31603477|PMID:31779681|PMID:31911633|PMID:32235514|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32860008|PMID:33194656|PMID:33332384|PMID:33471991|PMID:33558524|PMID:3471991|PMID:35988656|PMID:36113475|PMID:36266327|PMID:36290365|PMID:36672847|PMID:39003306|PMID:9536098
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12455067|PMID:15855896|PMID:16199547|PMID:17576681|PMID:22464251|PMID:23054243|PMID:25741868|PMID:26467025|PMID:27233470|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28912153|PMID:29915322|PMID:30322717|PMID:31159747|PMID:32235514|PMID:33332384|PMID:33471991|PMID:33558524|PMID:3471991|PMID:35171259|PMID:35534704|PMID:36113475|PMID:9536098
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1349181	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12023982
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349181	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
1564823	Xrcc2	X-ray repair cross complementing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349181	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:26467025|PMID:28492532|PMID:32235514
1564826	Sms	spermine synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564826	Sms	spermine synthase	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1345734	D	RGD:8554872	20190409	ClinVar		ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:25741868
1564826	Sms	spermine synthase	gene	DOID:0060802	syndromic X-linked intellectual disability Snyder type		ISO	RGD:1345734	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564826	Sms	spermine synthase	gene	DOID:0060802	syndromic X-linked intellectual disability Snyder type		ISO	RGD:1345734	D	RGD:7240710	20140723	OMIM			
1564826	Sms	spermine synthase	gene	DOID:0060802	syndromic X-linked intellectual disability Snyder type		ISO	RGD:1345734	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE | ClinVar Annotator: match by term: Mental retardation, X-linked, Snyder-Robinson type | ClinVar Annotator: match by term: SMS-related condition | ClinVar Annotator: match by term: SMS-related disorder | ClinVar Annotator: match by term: Snyder Robinson syndrome | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Snyder type	PMID:14508504|PMID:18550699|PMID:19377476|PMID:20556796|PMID:22612257|PMID:23696453|PMID:23805436|PMID:25741868|PMID:25888122|PMID:26174906|PMID:26467025|PMID:28492532|PMID:31580924|PMID:33624935|PMID:37432431|PMID:38463005
1564826	Sms	spermine synthase	gene	DOID:10534	stomach cancer		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564826	Sms	spermine synthase	gene	DOID:1059	intellectual disability		ISO	RGD:1345734	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Mental retardation	
1564826	Sms	spermine synthase	gene	DOID:1115	sarcoma		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564826	Sms	spermine synthase	gene	DOID:1826	epilepsy		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1564826	Sms	spermine synthase	gene	DOID:2030	anxiety disorder		ISO	RGD:1345734	D	RGD:597621635|PMID:21152090	20250205	RGD		DNA:SNPs::rs10521911,rs6654100	
1564826	Sms	spermine synthase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564826	Sms	spermine synthase	gene	DOID:3275	thymoma		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564826	Sms	spermine synthase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564826	Sms	spermine synthase	gene	DOID:480	movement disease		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1564826	Sms	spermine synthase	gene	DOID:540	strabismus		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1564826	Sms	spermine synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564826	Sms	spermine synthase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564826	Sms	spermine synthase	gene	DOID:630	genetic disease		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18550699|PMID:19377476|PMID:20556796|PMID:23696453|PMID:23805436|PMID:25741868|PMID:26467025|PMID:28492532|PMID:38463005
1564826	Sms	spermine synthase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1345734	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19192274
1564826	Sms	spermine synthase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1564826	Sms	spermine synthase	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1345734	D	RGD:597621636|PMID:38261723	20250205	RGD		protein:increased expression:pulmonary arterial smooth muscle cell	
1564826	Sms	spermine synthase	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
1564826	Sms	spermine synthase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1564826	Sms	spermine synthase	gene	DOID:9003507	Premature Birth		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1564826	Sms	spermine synthase	gene	DOID:9003539	Hyperacusis		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
1564826	Sms	spermine synthase	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
1564826	Sms	spermine synthase	gene	DOID:9005077	Joint Instability		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1564826	Sms	spermine synthase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1564826	Sms	spermine synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564826	Sms	spermine synthase	gene	DOID:9007573	Flatfoot		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1564826	Sms	spermine synthase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1564826	Sms	spermine synthase	gene	DOID:9008582	Developmental Disease		ISO	RGD:1345734	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1564826	Sms	spermine synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564828	Bmp2k	BMP-2 inducible kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564828	Bmp2k	BMP-2 inducible kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564828	Bmp2k	BMP-2 inducible kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564828	Bmp2k	BMP-2 inducible kinase	gene	DOID:1115	sarcoma		ISO	RGD:1604611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564828	Bmp2k	BMP-2 inducible kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1604611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564828	Bmp2k	BMP-2 inducible kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564828	Bmp2k	BMP-2 inducible kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1604611	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564828	Bmp2k	BMP-2 inducible kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564828	Bmp2k	BMP-2 inducible kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564830	Irx6	iroquois homeobox 6	gene	DOID:1324	lung cancer		ISO	RGD:1344383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564830	Irx6	iroquois homeobox 6	gene	DOID:4362	cervical cancer		ISO	RGD:1344383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564833	Cnst	consortin, connexin sorting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564833	Cnst	consortin, connexin sorting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1606946	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564833	Cnst	consortin, connexin sorting protein	gene	DOID:1115	sarcoma		ISO	RGD:1606946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564833	Cnst	consortin, connexin sorting protein	gene	DOID:1324	lung cancer		ISO	RGD:1606946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564833	Cnst	consortin, connexin sorting protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1606946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1564833	Cnst	consortin, connexin sorting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1606946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564833	Cnst	consortin, connexin sorting protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564833	Cnst	consortin, connexin sorting protein	gene	DOID:50	thyroid gland disease		ISO	RGD:1606946	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23397585
1564833	Cnst	consortin, connexin sorting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564833	Cnst	consortin, connexin sorting protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606946	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564833	Cnst	consortin, connexin sorting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564833	Cnst	consortin, connexin sorting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564835	Hephl1	hephaestin-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564835	Hephl1	hephaestin-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564835	Hephl1	hephaestin-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1345614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564835	Hephl1	hephaestin-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564835	Hephl1	hephaestin-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345614	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564835	Hephl1	hephaestin-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564835	Hephl1	hephaestin-like 1	gene	DOID:9001311	Lichen Planus Follicularis		ISO	RGD:1345614	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Lichen planopilaris	
1564835	Hephl1	hephaestin-like 1	gene	DOID:9001704	Pili Torti, Developmental Delay, Neurological Abnormalities		ISO	RGD:1345614	D	RGD:7240710	20201202	OMIM			
1564835	Hephl1	hephaestin-like 1	gene	DOID:9001704	Pili Torti, Developmental Delay, Neurological Abnormalities		ISO	RGD:1345614	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEPHL1-related condition | ClinVar Annotator: match by term: Pili torti-developmental delay-neurological abnormalities syndrome	PMID:25741868|PMID:28492532
1564835	Hephl1	hephaestin-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564837	Mis12	MIS12 kinetochore complex component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564837	Mis12	MIS12 kinetochore complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1346036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564837	Mis12	MIS12 kinetochore complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564837	Mis12	MIS12 kinetochore complex component	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346036	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1564842	Cyth4	cytohesin 4	gene	DOID:1324	lung cancer		ISO	RGD:1345777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564842	Cyth4	cytohesin 4	gene	DOID:3275	thymoma		ISO	RGD:1345777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564842	Cyth4	cytohesin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1345777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564842	Cyth4	cytohesin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345777	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564842	Cyth4	cytohesin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564852	Map7d2	MAP7 domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564852	Map7d2	MAP7 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564852	Map7d2	MAP7 domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1605254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564852	Map7d2	MAP7 domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1605254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564852	Map7d2	MAP7 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564852	Map7d2	MAP7 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564852	Map7d2	MAP7 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564857	Mettl24	methyltransferase like 24	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564857	Mettl24	methyltransferase like 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564857	Mettl24	methyltransferase like 24	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564857	Mettl24	methyltransferase like 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564857	Mettl24	methyltransferase like 24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564862	Zfp428	zinc finger protein 428	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564862	Zfp428	zinc finger protein 428	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564865	Akr1c3l1	aldo-keto reductase family 1 member C3-like 1	gene	DOID:9001573	Experimental Liver Cirrhosis		EXP		D	RGD:11554173	20180130	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:0060058	lymphoma		ISO	RGD:1605326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:0080600	COVID-19		ISO	RGD:1605326	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:1115	sarcoma		ISO	RGD:1605326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:1324	lung cancer		ISO	RGD:1605326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:3275	thymoma		ISO	RGD:1605326	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605326	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1605326	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564868	Tmtc1	transmembrane O-mannosyltransferase targeting cadherins 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564869	Wdr75	WD repeat domain 75	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564869	Wdr75	WD repeat domain 75	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564869	Wdr75	WD repeat domain 75	gene	DOID:10534	stomach cancer		ISO	RGD:1604581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564869	Wdr75	WD repeat domain 75	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564869	Wdr75	WD repeat domain 75	gene	DOID:1115	sarcoma		ISO	RGD:1604581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564869	Wdr75	WD repeat domain 75	gene	DOID:1909	melanoma		ISO	RGD:1604581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564869	Wdr75	WD repeat domain 75	gene	DOID:4362	cervical cancer		ISO	RGD:1604581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564869	Wdr75	WD repeat domain 75	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564869	Wdr75	WD repeat domain 75	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564869	Wdr75	WD repeat domain 75	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564869	Wdr75	WD repeat domain 75	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564869	Wdr75	WD repeat domain 75	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564869	Wdr75	WD repeat domain 75	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564869	Wdr75	WD repeat domain 75	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564871	Nme9	NME/NM23 family member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564871	Nme9	NME/NM23 family member 9	gene	DOID:1115	sarcoma		ISO	RGD:1351445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564871	Nme9	NME/NM23 family member 9	gene	DOID:4362	cervical cancer		ISO	RGD:1351445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564871	Nme9	NME/NM23 family member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564871	Nme9	NME/NM23 family member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564871	Nme9	NME/NM23 family member 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564875	Ldb3	LIM domain binding 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11696561|PMID:14662268|PMID:15668942|PMID:16476425|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17438622|PMID:17576681|PMID:18055494|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:20301672|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:22337857|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26350513|PMID:26467025|PMID:27005929|PMID:27618136|PMID:27884173|PMID:27896284|PMID:28349680|PMID:28492532|PMID:28798025|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31568572|PMID:31737537|PMID:32721234|PMID:32880476|PMID:33297573|PMID:33500567|PMID:33552729|PMID:33742095|PMID:34935411|PMID:4855680|PMID:9536098
1564875	Ldb3	LIM domain binding 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:11696561|PMID:14662268|PMID:15668942|PMID:16476425|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17438622|PMID:17576681|PMID:18055494|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:20301672|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:21952291|PMID:22337857|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26350513|PMID:26467025|PMID:27005929|PMID:27618136|PMID:27884173|PMID:27896284|PMID:28349680|PMID:28492532|PMID:28569743|PMID:28594829|PMID:28798025|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31568572|PMID:31737537|PMID:32721234|PMID:32880476|PMID:33297573|PMID:33452016|PMID:33500567|PMID:33552729|PMID:33633783|PMID:33742095|PMID:34935411|PMID:35087879|PMID:37477868|PMID:38002998|PMID:4855680|PMID:9536098
1564875	Ldb3	LIM domain binding 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11696561|PMID:17576681|PMID:19028670|PMID:19412328|PMID:20301672|PMID:20474083|PMID:20590677|PMID:21952291|PMID:22337857|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25741868|PMID:26350513|PMID:26383259|PMID:26467025|PMID:27884173|PMID:27896284|PMID:28492532|PMID:28569743|PMID:28594829|PMID:28798025|PMID:29032884|PMID:30847666|PMID:30937429|PMID:31471687|PMID:33452016|PMID:33500567|PMID:33633783|PMID:33906374|PMID:36178741|PMID:36253531|PMID:37477868|PMID:38002998|PMID:9536098
1564875	Ldb3	LIM domain binding 3	gene	DOID:0080092	myofibrillar myopathy 1		ISS	RGD:1557802	D	RGD:13592920	20180518	MouseDO		OMIM:601419	
1564875	Ldb3	LIM domain binding 3	gene	DOID:0080095	myofibrillar myopathy 4		ISO	RGD:1351488	D	RGD:7240710	20130425	OMIM			
1564875	Ldb3	LIM domain binding 3	gene	DOID:0080095	myofibrillar myopathy 4		ISO	RGD:1351488	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy 4	PMID:11696561|PMID:14662268|PMID:15668942|PMID:16199547|PMID:17097056|PMID:17576681|PMID:19028670|PMID:19377068|PMID:19412328|PMID:20474083|PMID:20590677|PMID:21520333|PMID:22337857|PMID:22349865|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:23996002|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383259|PMID:26467025|PMID:27532257|PMID:27662471|PMID:27884173|PMID:27896284|PMID:28045975|PMID:28082330|PMID:28349680|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29032884|PMID:29773157|PMID:29892087|PMID:30021846|PMID:30026549|PMID:30847666|PMID:30937429|PMID:31127727|PMID:31471687|PMID:31648988|PMID:31983221|PMID:32183154|PMID:33029862|PMID:33308939|PMID:33500567|PMID:33802723|PMID:33906374|PMID:34598319|PMID:34749429|PMID:35284542|PMID:35352813|PMID:36178741|PMID:36253531|PMID:36703223|PMID:37291118|PMID:37477868|PMID:38158391|PMID:38895864|PMID:9536098
1564875	Ldb3	LIM domain binding 3	gene	DOID:0080307	myofibrillar myopathy		ISO	RGD:1351488	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	
1564875	Ldb3	LIM domain binding 3	gene	DOID:0080307	myofibrillar myopathy		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy	PMID:28492532
1564875	Ldb3	LIM domain binding 3	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572
1564875	Ldb3	LIM domain binding 3	gene	DOID:0081337	congenital myopathy		ISS	RGD:1557802	D	RGD:13592920	20230615	MouseDO			
1564875	Ldb3	LIM domain binding 3	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1351488	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	PMID:28492532
1564875	Ldb3	LIM domain binding 3	gene	DOID:0110310	hypertrophic cardiomyopathy 4		ISO	RGD:1351488	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4	PMID:25741868|PMID:28492532
1564875	Ldb3	LIM domain binding 3	gene	DOID:0110320	hypertrophic cardiomyopathy 14		ISO	RGD:1351488	D	RGD:8554872	20170912	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14	PMID:25741868
1564875	Ldb3	LIM domain binding 3	gene	DOID:0110423	dilated cardiomyopathy 1C		ISO	RGD:1351488	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564875	Ldb3	LIM domain binding 3	gene	DOID:0110423	dilated cardiomyopathy 1C		ISO	RGD:1351488	D	RGD:7240710	20130731	OMIM			
1564875	Ldb3	LIM domain binding 3	gene	DOID:0110423	dilated cardiomyopathy 1C		ISO	RGD:1351488	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Dilated cardiomyopathy 1C | ClinVar Annotator: match by term: LDB3-related condition	PMID:11696561|PMID:17097056|PMID:17576681|PMID:19028670|PMID:19377068|PMID:19412328|PMID:20474083|PMID:20590677|PMID:22337857|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25208129|PMID:25351510|PMID:25617006|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383259|PMID:26467025|PMID:26886200|PMID:27532257|PMID:27884173|PMID:27896284|PMID:28082330|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29773157|PMID:30021846|PMID:30026549|PMID:30847666|PMID:31376648|PMID:31471687|PMID:31568572|PMID:31983221|PMID:33029862|PMID:33500567|PMID:35284542|PMID:36178741|PMID:36253531|PMID:37291118|PMID:37477868|PMID:37579221|PMID:9536098
1564875	Ldb3	LIM domain binding 3	gene	DOID:0110423	dilated cardiomyopathy 1C		ISS	RGD:1557802	D	RGD:13592920	20230718	MouseDO		OMIM:601493	
1564875	Ldb3	LIM domain binding 3	gene	DOID:0110443	dilated cardiomyopathy 1B		ISO	RGD:1351488	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial	PMID:20474083|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27884173|PMID:27896284|PMID:28492532|PMID:30021846|PMID:33029862
1564875	Ldb3	LIM domain binding 3	gene	DOID:0110458	dilated cardiomyopathy 1BB		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy	PMID:19377068|PMID:23396983|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33906374
1564875	Ldb3	LIM domain binding 3	gene	DOID:10534	stomach cancer		ISO	RGD:1351488	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564875	Ldb3	LIM domain binding 3	gene	DOID:1115	sarcoma		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
1564875	Ldb3	LIM domain binding 3	gene	DOID:11720	distal myopathy		ISO	RGD:1351488	D	RGD:11068981|PMID:17337483	20170309	RGD		DNA:missense mutation:exon:p.A165V (human)	
1564875	Ldb3	LIM domain binding 3	gene	DOID:11722	myotonic dystrophy type 1		ISO	RGD:1351488	D	RGD:12792205|PMID:24878509	20170309	RGD		mRNA, protein:alternative form:exon	
1564875	Ldb3	LIM domain binding 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532
1564875	Ldb3	LIM domain binding 3	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
1564875	Ldb3	LIM domain binding 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351488	D	RGD:11098950|PMID:20852297	20170309	RGD		DNA:missense mutation:exon:p.S196L (human)	
1564875	Ldb3	LIM domain binding 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351488	D	RGD:1580827|PMID:14660611	20170315	RGD		DNA:missense mutation: :p.D626N (human)	
1564875	Ldb3	LIM domain binding 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28166811|PMID:28492532|PMID:29032884|PMID:31078652|PMID:31333075|PMID:31568572
1564875	Ldb3	LIM domain binding 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537
1564875	Ldb3	LIM domain binding 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20474083|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537|PMID:33500567|PMID:33552729|PMID:34935411
1564875	Ldb3	LIM domain binding 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:17576681|PMID:19377068|PMID:19412328|PMID:20474083|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537|PMID:33500567|PMID:33552729|PMID:34935411|PMID:35087879|PMID:36178741|PMID:9536098
1564875	Ldb3	LIM domain binding 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351488	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:15668942|PMID:16427346|PMID:18055494|PMID:22349865|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26342832|PMID:27005929|PMID:27546599|PMID:28349680|PMID:28492532|PMID:33802723|PMID:35352813
1564875	Ldb3	LIM domain binding 3	gene	DOID:12930	dilated cardiomyopathy	no_association	ISO	RGD:1351488	D	RGD:11527732|PMID:26419279	20170314	RGD		DNA:missense mutation: :p.D117N (human)	
1564875	Ldb3	LIM domain binding 3	gene	DOID:1324	lung cancer		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564875	Ldb3	LIM domain binding 3	gene	DOID:2843	long QT syndrome		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868|PMID:28492532
1564875	Ldb3	LIM domain binding 3	gene	DOID:422	congenital structural myopathy		ISO	RGD:1557802	D	RGD:1581815|PMID:11696561	20170315	RGD			
1564875	Ldb3	LIM domain binding 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
1564875	Ldb3	LIM domain binding 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1564875	Ldb3	LIM domain binding 3	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:23861362|PMID:25741868|PMID:26383259|PMID:28492532|PMID:30847666|PMID:31471687
1564875	Ldb3	LIM domain binding 3	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:14662268|PMID:19377068|PMID:23996002|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572
1564875	Ldb3	LIM domain binding 3	gene	DOID:9000596	Isolated Noncompaction of the Ventricular Myocardium		ISO	RGD:1351488	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium	PMID:25741868|PMID:28492532
1564875	Ldb3	LIM domain binding 3	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1351488	D	RGD:8554872	20191112	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:25741868
1564875	Ldb3	LIM domain binding 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564875	Ldb3	LIM domain binding 3	gene	DOID:9007288	Left Ventricular Noncompaction 1		ISO	RGD:1351488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction 1	PMID:25741868
1564875	Ldb3	LIM domain binding 3	gene	DOID:9009353	Dilated Cardiomyopathy 2L		ISO	RGD:1351488	D	RGD:7240710	20250625	OMIM			
1564875	Ldb3	LIM domain binding 3	gene	DOID:9009353	Dilated Cardiomyopathy 2L		ISO	RGD:1351488	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 2L | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2l	PMID:25741868|PMID:28492532|PMID:36253531
1564876	Slc35e3	solute carrier family 35, member E3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564876	Slc35e3	solute carrier family 35, member E3	gene	DOID:10534	stomach cancer		ISO	RGD:1352847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564876	Slc35e3	solute carrier family 35, member E3	gene	DOID:1115	sarcoma		ISO	RGD:1352847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564876	Slc35e3	solute carrier family 35, member E3	gene	DOID:3070	high grade glioma		ISO	RGD:1352847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564876	Slc35e3	solute carrier family 35, member E3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564880	Acrbp	acrosin binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344974	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564880	Acrbp	acrosin binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1344974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564880	Acrbp	acrosin binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564880	Acrbp	acrosin binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1344974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564880	Acrbp	acrosin binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1344974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564880	Acrbp	acrosin binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1344974	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564880	Acrbp	acrosin binding protein	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1344974	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1564880	Acrbp	acrosin binding protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344974	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1564880	Acrbp	acrosin binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564880	Acrbp	acrosin binding protein	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1344974	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Neoplasm of brain	
1564880	Acrbp	acrosin binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564880	Acrbp	acrosin binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564882	Rsrc2	arginine and serine rich coiled-coil 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564882	Rsrc2	arginine and serine rich coiled-coil 2	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1564882	Rsrc2	arginine and serine rich coiled-coil 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564882	Rsrc2	arginine and serine rich coiled-coil 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564882	Rsrc2	arginine and serine rich coiled-coil 2	gene	DOID:12849	autistic disorder		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1564882	Rsrc2	arginine and serine rich coiled-coil 2	gene	DOID:1324	lung cancer		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564882	Rsrc2	arginine and serine rich coiled-coil 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564882	Rsrc2	arginine and serine rich coiled-coil 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564882	Rsrc2	arginine and serine rich coiled-coil 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564882	Rsrc2	arginine and serine rich coiled-coil 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564882	Rsrc2	arginine and serine rich coiled-coil 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564882	Rsrc2	arginine and serine rich coiled-coil 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564882	Rsrc2	arginine and serine rich coiled-coil 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564888	Ldlrad2	low density lipoprotein receptor class A domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564888	Ldlrad2	low density lipoprotein receptor class A domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564888	Ldlrad2	low density lipoprotein receptor class A domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564890	Rpe	ribulose-5-phosphate-3-epimerase	gene	DOID:1115	sarcoma		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564890	Rpe	ribulose-5-phosphate-3-epimerase	gene	DOID:1324	lung cancer		ISO	RGD:1320609	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564890	Rpe	ribulose-5-phosphate-3-epimerase	gene	DOID:3275	thymoma		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564890	Rpe	ribulose-5-phosphate-3-epimerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564890	Rpe	ribulose-5-phosphate-3-epimerase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564890	Rpe	ribulose-5-phosphate-3-epimerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564890	Rpe	ribulose-5-phosphate-3-epimerase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564891	Calhm1	calcium homeostasis modulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603161	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
1564893	Med22	mediator complex subunit 22	gene	DOID:10534	stomach cancer		ISO	RGD:1606332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564893	Med22	mediator complex subunit 22	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564893	Med22	mediator complex subunit 22	gene	DOID:1115	sarcoma		ISO	RGD:1606332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564893	Med22	mediator complex subunit 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564895	Ahcyl2	adenosylhomocysteinase-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564895	Ahcyl2	adenosylhomocysteinase-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1601771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564895	Ahcyl2	adenosylhomocysteinase-like 2	gene	DOID:1909	melanoma		ISO	RGD:1601771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564895	Ahcyl2	adenosylhomocysteinase-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564895	Ahcyl2	adenosylhomocysteinase-like 2	gene	DOID:3275	thymoma		ISO	RGD:1601771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564895	Ahcyl2	adenosylhomocysteinase-like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564895	Ahcyl2	adenosylhomocysteinase-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1601771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564895	Ahcyl2	adenosylhomocysteinase-like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564895	Ahcyl2	adenosylhomocysteinase-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601771	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564895	Ahcyl2	adenosylhomocysteinase-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564895	Ahcyl2	adenosylhomocysteinase-like 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1601771	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
1564895	Ahcyl2	adenosylhomocysteinase-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564895	Ahcyl2	adenosylhomocysteinase-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564895	Ahcyl2	adenosylhomocysteinase-like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564898	Taf7l	TATA-box binding protein associated factor 7-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564898	Taf7l	TATA-box binding protein associated factor 7-like	gene	DOID:1115	sarcoma		ISO	RGD:1350801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564898	Taf7l	TATA-box binding protein associated factor 7-like	gene	DOID:14228	oligospermia		ISO	RGD:1350801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: oligospermia	PMID:25741868
1564898	Taf7l	TATA-box binding protein associated factor 7-like	gene	DOID:4362	cervical cancer		ISO	RGD:1350801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564898	Taf7l	TATA-box binding protein associated factor 7-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564899	C16h10orf71	similar to human chromosome 10 open reading frame 71	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1353451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:38950288
1564899	C16h10orf71	similar to human chromosome 10 open reading frame 71	gene	DOID:12930	dilated cardiomyopathy		ISS	RGD:1613941	D	RGD:13592920	20240926	MouseDO			
1564899	C16h10orf71	similar to human chromosome 10 open reading frame 71	gene	DOID:1324	lung cancer		ISO	RGD:1353451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564899	C16h10orf71	similar to human chromosome 10 open reading frame 71	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564899	C16h10orf71	similar to human chromosome 10 open reading frame 71	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564899	C16h10orf71	similar to human chromosome 10 open reading frame 71	gene	DOID:9009445	dilated cardiomyopathy 10Q		ISO	RGD:1353451	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1QQ | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1QQ	PMID:25741868|PMID:38950288
1564903	Lrriq1	leucine-rich repeats and IQ motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564903	Lrriq1	leucine-rich repeats and IQ motif containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564903	Lrriq1	leucine-rich repeats and IQ motif containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1343054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564903	Lrriq1	leucine-rich repeats and IQ motif containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1343054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564903	Lrriq1	leucine-rich repeats and IQ motif containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564903	Lrriq1	leucine-rich repeats and IQ motif containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1343054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1564903	Lrriq1	leucine-rich repeats and IQ motif containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564903	Lrriq1	leucine-rich repeats and IQ motif containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564903	Lrriq1	leucine-rich repeats and IQ motif containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343054	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564903	Lrriq1	leucine-rich repeats and IQ motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564903	Lrriq1	leucine-rich repeats and IQ motif containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564903	Lrriq1	leucine-rich repeats and IQ motif containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564904	Mex3a	mex-3 RNA binding family member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1625811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564904	Mex3a	mex-3 RNA binding family member A	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1625811	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1564904	Mex3a	mex-3 RNA binding family member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564904	Mex3a	mex-3 RNA binding family member A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1625811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564904	Mex3a	mex-3 RNA binding family member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1625811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564914	Socs5	suppressor of cytokine signaling 5	gene	DOID:3275	thymoma		ISO	RGD:1346055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564914	Socs5	suppressor of cytokine signaling 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564914	Socs5	suppressor of cytokine signaling 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564921	Ppih	peptidylprolyl isomerase H	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564921	Ppih	peptidylprolyl isomerase H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564921	Ppih	peptidylprolyl isomerase H	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564921	Ppih	peptidylprolyl isomerase H	gene	DOID:1324	lung cancer		ISO	RGD:1347300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564921	Ppih	peptidylprolyl isomerase H	gene	DOID:1909	melanoma		ISO	RGD:1347300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564921	Ppih	peptidylprolyl isomerase H	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564921	Ppih	peptidylprolyl isomerase H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564921	Ppih	peptidylprolyl isomerase H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564921	Ppih	peptidylprolyl isomerase H	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564922	Sycp2l	synaptonemal complex protein 2-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564922	Sycp2l	synaptonemal complex protein 2-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564922	Sycp2l	synaptonemal complex protein 2-like	gene	DOID:1115	sarcoma		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564922	Sycp2l	synaptonemal complex protein 2-like	gene	DOID:1324	lung cancer		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564922	Sycp2l	synaptonemal complex protein 2-like	gene	DOID:3275	thymoma		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564922	Sycp2l	synaptonemal complex protein 2-like	gene	DOID:4362	cervical cancer		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564922	Sycp2l	synaptonemal complex protein 2-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1604969	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564922	Sycp2l	synaptonemal complex protein 2-like	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
1564922	Sycp2l	synaptonemal complex protein 2-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564922	Sycp2l	synaptonemal complex protein 2-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564922	Sycp2l	synaptonemal complex protein 2-like	gene	DOID:9008728	PREMATURE OVARIAN FAILURE 24		ISO	RGD:1604969	D	RGD:7240710	20240619	OMIM			
1564922	Sycp2l	synaptonemal complex protein 2-like	gene	DOID:9008728	PREMATURE OVARIAN FAILURE 24		ISO	RGD:1604969	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 24 | ClinVar Annotator: match by term: Premature ovarian failure 24	PMID:25741868
1564922	Sycp2l	synaptonemal complex protein 2-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564922	Sycp2l	synaptonemal complex protein 2-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564923	Nxf3	nuclear RNA export factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564923	Nxf3	nuclear RNA export factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564923	Nxf3	nuclear RNA export factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564923	Nxf3	nuclear RNA export factor 3	gene	DOID:12336	male infertility		ISO	RGD:1354288	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868
1564923	Nxf3	nuclear RNA export factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564923	Nxf3	nuclear RNA export factor 3	gene	DOID:3275	thymoma		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564923	Nxf3	nuclear RNA export factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564923	Nxf3	nuclear RNA export factor 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564923	Nxf3	nuclear RNA export factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564924	Lmod3	leiomodin 3	gene	DOID:0110931	nemaline myopathy 10		ISO	RGD:1603025	D	RGD:7240710	20170329	OMIM			
1564924	Lmod3	leiomodin 3	gene	DOID:0110931	nemaline myopathy 10		ISO	RGD:1603025	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LMOD3-related condition | ClinVar Annotator: match by term: NEMALINE MYOPATHY 10 | ClinVar Annotator: match by term: Nemaline myopathy 10	PMID:17576681|PMID:25250574|PMID:25741868|PMID:28492532|PMID:29758562|PMID:29923248|PMID:30291184|PMID:30642739|PMID:31428121|PMID:32008911|PMID:35299092|PMID:37956287|PMID:9536098
1564924	Lmod3	leiomodin 3	gene	DOID:0110931	nemaline myopathy 10		ISS	RGD:1617991	D	RGD:13592920	20230718	MouseDO		OMIM:616165	
1564924	Lmod3	leiomodin 3	gene	DOID:630	genetic disease		ISO	RGD:1603025	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1564924	Lmod3	leiomodin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564925	Slc15a5	solute carrier family 15, member 5	gene	DOID:1115	sarcoma		ISO	RGD:2302456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564925	Slc15a5	solute carrier family 15, member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564925	Slc15a5	solute carrier family 15, member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2302456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564925	Slc15a5	solute carrier family 15, member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2302456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564928	Ttc23l	tetratricopeptide repeat domain 23-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564928	Ttc23l	tetratricopeptide repeat domain 23-like	gene	DOID:1115	sarcoma		ISO	RGD:1603175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564928	Ttc23l	tetratricopeptide repeat domain 23-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564928	Ttc23l	tetratricopeptide repeat domain 23-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564928	Ttc23l	tetratricopeptide repeat domain 23-like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564928	Ttc23l	tetratricopeptide repeat domain 23-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564929	Tm2d3	TM2 domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564929	Tm2d3	TM2 domain containing 3	gene	DOID:0070719	neurocardiorenal malformation syndrome		ISO	RGD:1602099	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROCARDIORENAL MALFORMATION SYNDROME	
1564929	Tm2d3	TM2 domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1602099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564929	Tm2d3	TM2 domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1602099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564929	Tm2d3	TM2 domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1602099	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564929	Tm2d3	TM2 domain containing 3	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1602099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	
1564936	Atp6ap1l	ATPase H+ transporting accessory protein 1 like	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1603596	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1564937	Cfap68	cilia and flagella associated protein 68	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564937	Cfap68	cilia and flagella associated protein 68	gene	DOID:0060058	lymphoma		ISO	RGD:1345294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1564937	Cfap68	cilia and flagella associated protein 68	gene	DOID:4362	cervical cancer		ISO	RGD:1345294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564937	Cfap68	cilia and flagella associated protein 68	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564937	Cfap68	cilia and flagella associated protein 68	gene	DOID:5041	esophageal cancer		ISO	RGD:1345294	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564937	Cfap68	cilia and flagella associated protein 68	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564937	Cfap68	cilia and flagella associated protein 68	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564943	S100pbp	S100P binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564943	S100pbp	S100P binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564943	S100pbp	S100P binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1604319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564943	S100pbp	S100P binding protein	gene	DOID:1909	melanoma		ISO	RGD:1604319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564943	S100pbp	S100P binding protein	gene	DOID:3275	thymoma		ISO	RGD:1604319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564943	S100pbp	S100P binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1604319	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564943	S100pbp	S100P binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351286	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:1909	melanoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1351286	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:3275	thymoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1564946	Ylpm1	YLP motif containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351286	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
1564946	Ylpm1	YLP motif containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564946	Ylpm1	YLP motif containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603972	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17546030|PMID:19309688|PMID:25741868|PMID:28492532
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:0080636	syndromic microphthalmia		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic microphthalmia	PMID:25741868
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:10907	microcephaly		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:1283	enterocele		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:2120	focal dermal hypoplasia		ISO	RGD:1603972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17546030|PMID:17546031
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:2120	focal dermal hypoplasia		ISO	RGD:1603972	D	RGD:7240710	20130221	OMIM			
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:2120	focal dermal hypoplasia		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FOCAL DERMAL HYPOPLASIA | ClinVar Annotator: match by term: Focal dermal hypoplasia | ClinVar Annotator: match by term: Goltz syndrome | ClinVar Annotator: match by term: PORCN-related condition	PMID:17546030|PMID:17546031|PMID:18325042|PMID:19277062|PMID:19309688|PMID:19586929|PMID:19863546|PMID:20301712|PMID:20854095|PMID:22888000|PMID:23131169|PMID:25640089|PMID:25741868|PMID:28492532|PMID:29383603|PMID:30022487|PMID:32141364
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:2120	focal dermal hypoplasia		ISS	RGD:1557351	D	RGD:13592920	20230718	MouseDO		OMIM:305600	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1603972	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:540	strabismus		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17546030|PMID:17546031|PMID:19277062|PMID:19309688|PMID:21484999|PMID:25640089|PMID:25741868|PMID:26633542|PMID:28492532|PMID:30374660|PMID:39613420
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:9003133	Hypertelorism		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17546030|PMID:18325042|PMID:19309688
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:9007661	Dwarfism		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603972	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741874
1564947	Porcn	porcupine O-acyltransferase	gene	DOID:936	brain disease		ISO	RGD:1603972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile encephalopathy	
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:0111915	spermatogenic failure 33		ISO	RGD:1606715	D	RGD:7240710	20190315	OMIM			
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:0111915	spermatogenic failure 33		ISO	RGD:1606715	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CFAP251-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 33 | ClinVar Annotator: match by term: Spermatogenic failure 33 | ClinVar Annotator: match by term: spermatogenic failure 33	PMID:25741868|PMID:30122541
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:10534	stomach cancer		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:1115	sarcoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:1324	lung cancer		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:4362	cervical cancer		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:9001513	Asthenozoospermia		ISO	RGD:1606715	D	RGD:8554872	20190108	ClinVar		ClinVar Annotator: match by term: asthenozoospermia	PMID:30122541
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564948	Cfap251	cilia and flagella associated protein 251	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564950	Fam184b	family with sequence similarity 184, member B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2301273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564950	Fam184b	family with sequence similarity 184, member B	gene	DOID:0060058	lymphoma		ISO	RGD:2301273	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1564950	Fam184b	family with sequence similarity 184, member B	gene	DOID:1115	sarcoma		ISO	RGD:2301273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564950	Fam184b	family with sequence similarity 184, member B	gene	DOID:1324	lung cancer		ISO	RGD:2301273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564950	Fam184b	family with sequence similarity 184, member B	gene	DOID:303	substance-related disorder		ISO	RGD:2301273	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1564950	Fam184b	family with sequence similarity 184, member B	gene	DOID:4362	cervical cancer		ISO	RGD:2301273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564950	Fam184b	family with sequence similarity 184, member B	gene	DOID:5041	esophageal cancer		ISO	RGD:2301273	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564950	Fam184b	family with sequence similarity 184, member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2301273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:1909	melanoma		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564952	Zranb3	zinc finger RANBP2-type containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564957	Sgip1	SH3GL interacting endocytic adaptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564957	Sgip1	SH3GL interacting endocytic adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564957	Sgip1	SH3GL interacting endocytic adaptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564957	Sgip1	SH3GL interacting endocytic adaptor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1346308	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1564957	Sgip1	SH3GL interacting endocytic adaptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564957	Sgip1	SH3GL interacting endocytic adaptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564957	Sgip1	SH3GL interacting endocytic adaptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564957	Sgip1	SH3GL interacting endocytic adaptor 1	gene	DOID:1909	melanoma		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564957	Sgip1	SH3GL interacting endocytic adaptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564957	Sgip1	SH3GL interacting endocytic adaptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346308	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564957	Sgip1	SH3GL interacting endocytic adaptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564957	Sgip1	SH3GL interacting endocytic adaptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564960	Hormad1	HORMA domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564960	Hormad1	HORMA domain containing 1	gene	DOID:12336	male infertility		ISO	RGD:1346134	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868
1564960	Hormad1	HORMA domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1346134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564960	Hormad1	HORMA domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564960	Hormad1	HORMA domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564960	Hormad1	HORMA domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564960	Hormad1	HORMA domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:16199547|PMID:27900362|PMID:28492532
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1345138	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:0060058	lymphoma		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:0060249	scoliosis		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:37961033
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:37961033
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:0080749	chronic spontaneous urticaria		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic idiopathic urticaria	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:0110059	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keratosis pilaris	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:1059	intellectual disability		ISO	RGD:1345138	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:1059	intellectual disability		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:34773373|PMID:37961033|PMID:39039281
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:10907	microcephaly		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:11193	syndactyly		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:11383	cryptorchidism		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:37961033
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:1143	exotropia		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:29209020|PMID:34773373|PMID:39039281
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:28492532
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:11782	astigmatism		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:29209020|PMID:34773373|PMID:39039281
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:11830	myopia		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:29209020|PMID:34773373|PMID:39039281
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:11836	clubfoot		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:12849	autistic disorder		ISO	RGD:1345138	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1345138	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097067
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:13934	facial paralysis		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial palsy	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:1596	depressive disorder		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:16199547|PMID:27900362|PMID:28492532
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:1657	ventricular septal defect		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:1826	epilepsy		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:29209020|PMID:34773373|PMID:39039281
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:1909	melanoma		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:1924	hypogonadism		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:37961033
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:2030	anxiety disorder		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:16199547|PMID:27900362|PMID:28492532
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:2340	craniosynostosis		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:2841	asthma		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:16199547|PMID:27900362|PMID:28492532
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:3144	cutis laxa		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:3405	histiocytosis		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Histiocytosis	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:4428	dyslexia		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:4702	mongolian spot		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:483	cavernous hemangioma		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cavernous hemangioma	PMID:25741868|PMID:29209020|PMID:34773373|PMID:39039281
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1345138	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:540	strabismus		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:543	dystonia		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:37961033
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:614	lymphopenia		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphopenia	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:630	genetic disease		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:34773373|PMID:37961033|PMID:39039281
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:8927	learning disability		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:34773373|PMID:37961033|PMID:39039281
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9000495	Tremor		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9000641	Pain		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:37961033
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9000781	Cyanosis		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cyanosis	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9000949	DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES		ISO	RGD:1345138	D	RGD:7240710	20190315	OMIM			
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9000949	DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related condition | ClinVar Annotator: match by term: PHIP-related disorder	PMID:16199547|PMID:17576681|PMID:25741868|PMID:27479843|PMID:27900362|PMID:28191889|PMID:28263302|PMID:28492532|PMID:29209020|PMID:30564305|PMID:32492392|PMID:33004838|PMID:34773373|PMID:37961033|PMID:39039281|PMID:9536098
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9001031	Retrognathia		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:37961033
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9001581	Constipation		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:34773373|PMID:37961033|PMID:39039281
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9001722	Dysarthria		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:37961033
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:37961033
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9002569	Overweight		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:16199547|PMID:27900362|PMID:28492532
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9003507	Premature Birth		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:16199547|PMID:27900362|PMID:28492532
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9004739	Cicatrix		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scarring	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:37961033
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9004866	Ataxia		ISO	RGD:1345138	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:25741868|PMID:29209020|PMID:34773373|PMID:39039281
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9004956	Nocturnal Enuresis		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nocturnal enuresis	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9005077	Joint Instability		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:16199547|PMID:25741868|PMID:27479843|PMID:27900362|PMID:28263302|PMID:28492532|PMID:29209020|PMID:34773373|PMID:37961033|PMID:39039281
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:25741868|PMID:27479843|PMID:27900362|PMID:28263302|PMID:28492532|PMID:29209020|PMID:34773373|PMID:37961033|PMID:39039281
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:37961033
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:16199547|PMID:27900362|PMID:28492532
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exercise intolerance, riboflavin-responsive	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9007356	Eczema		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9007661	Dwarfism		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:29209020|PMID:34773373|PMID:39039281
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9008023	Memory Disorders		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:16199547|PMID:27900362|PMID:28492532
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:34773373|PMID:37961033|PMID:39039281
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9008582	Developmental Disease		ISO	RGD:1345138	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9220	central sleep apnea		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central sleep apnea syndrome	PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:37961033
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9351	diabetes mellitus		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:28492532
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9452	steatotic liver disease		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:28492532
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1564964	Phip	PHIP subunit of CUL4-Ring ligase complex	gene	DOID:9970	obesity		ISO	RGD:1345138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:16199547|PMID:25741868|PMID:27479843|PMID:27900362|PMID:28263302|PMID:28492532|PMID:29209020|PMID:37961033
1564967	Zmym3	zinc finger MYM-type containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564967	Zmym3	zinc finger MYM-type containing 3	gene	DOID:1059	intellectual disability		ISO	RGD:1350026	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
1564967	Zmym3	zinc finger MYM-type containing 3	gene	DOID:630	genetic disease		ISO	RGD:1350026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:36413997
1564967	Zmym3	zinc finger MYM-type containing 3	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1350026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
1564967	Zmym3	zinc finger MYM-type containing 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1350026	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052|PMID:29610475|PMID:29662167
1564967	Zmym3	zinc finger MYM-type containing 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350026	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1564967	Zmym3	zinc finger MYM-type containing 3	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1350026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:24721225
1564967	Zmym3	zinc finger MYM-type containing 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:24721225
1564967	Zmym3	zinc finger MYM-type containing 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24721225|PMID:25741868
1564967	Zmym3	zinc finger MYM-type containing 3	gene	DOID:9008997	X-Linked Intellectual Developmental Disorder 112		ISO	RGD:1350026	D	RGD:7240710	20230726	OMIM			
1564967	Zmym3	zinc finger MYM-type containing 3	gene	DOID:9008997	X-Linked Intellectual Developmental Disorder 112		ISO	RGD:1350026	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 112 | ClinVar Annotator: match by term: ZMYM3-related condition	PMID:25741868|PMID:28492532|PMID:36586412
1564975	Dct	dopachrome tautomerase	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1342702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ocular albinism	PMID:25741868|PMID:33100333
1564975	Dct	dopachrome tautomerase	gene	DOID:0110019	age related macular degeneration 7		ISO	RGD:1342702	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 7	
1564975	Dct	dopachrome tautomerase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1564975	Dct	dopachrome tautomerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564975	Dct	dopachrome tautomerase	gene	DOID:630	genetic disease		ISO	RGD:1342702	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1564975	Dct	dopachrome tautomerase	gene	DOID:9001432	Oculocutaneous Albinism Type VIII		ISO	RGD:1342702	D	RGD:7240710	20210203	OMIM			
1564975	Dct	dopachrome tautomerase	gene	DOID:9001432	Oculocutaneous Albinism Type VIII		ISO	RGD:1342702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE VIII | ClinVar Annotator: match by term: DCT-related disorder	
1564975	Dct	dopachrome tautomerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564975	Dct	dopachrome tautomerase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564975	Dct	dopachrome tautomerase	gene	DOID:9649	congenital nystagmus		ISO	RGD:1342702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:25741868
1564976	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564976	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564976	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:0110939	autosomal recessive osteopetrosis 5		ISO	RGD:1345018	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1564976	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:0110939	autosomal recessive osteopetrosis 5		ISO	RGD:1345018	D	RGD:7240710	20130731	OMIM			
1564976	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:0110939	autosomal recessive osteopetrosis 5		ISO	RGD:1345018	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: OSTM1-related condition	PMID:25741868|PMID:28492532|PMID:34753502
1564976	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:0110939	autosomal recessive osteopetrosis 5		ISS	RGD:1621630	D	RGD:13592920	20230718	MouseDO		OMIM:259720	
1564976	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1345018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1564976	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1564976	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564976	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:630	genetic disease		ISO	RGD:1345018	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1564976	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564976	Ostm1	osteoclastogenesis associated transmembrane protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564978	Lrrc14b	leucine rich repeat containing 14B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:3418715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564978	Lrrc14b	leucine rich repeat containing 14B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3418715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564982	Vsig10l	V-set and immunoglobulin domain containing 10 like	gene	DOID:0080600	COVID-19		ISO	RGD:3440350	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1564982	Vsig10l	V-set and immunoglobulin domain containing 10 like	gene	DOID:4362	cervical cancer		ISO	RGD:3440350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564982	Vsig10l	V-set and immunoglobulin domain containing 10 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3440350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564982	Vsig10l	V-set and immunoglobulin domain containing 10 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3440350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564982	Vsig10l	V-set and immunoglobulin domain containing 10 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3440350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1564982	Vsig10l	V-set and immunoglobulin domain containing 10 like	gene	DOID:9206	Barrett's esophagus		ISS	RGD:1622227	D	RGD:13592920	20260402	MouseDO		OMIM:614266	
1564984	Neurl1b	neuralized E3 ubiquitin protein ligase 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2303667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564984	Neurl1b	neuralized E3 ubiquitin protein ligase 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2303667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564984	Neurl1b	neuralized E3 ubiquitin protein ligase 1B	gene	DOID:630	genetic disease		ISO	RGD:2303667	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1564984	Neurl1b	neuralized E3 ubiquitin protein ligase 1B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2303667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564985	Kcnk5	potassium two pore domain channel subfamily K member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564985	Kcnk5	potassium two pore domain channel subfamily K member 5	gene	DOID:1824	status epilepticus		ISO	RGD:1345390	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19220408
1564985	Kcnk5	potassium two pore domain channel subfamily K member 5	gene	DOID:3275	thymoma		ISO	RGD:1345390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564987	Tbc1d22b	TBC1 domain family, member 22B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564987	Tbc1d22b	TBC1 domain family, member 22B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353872	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1564987	Tbc1d22b	TBC1 domain family, member 22B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564987	Tbc1d22b	TBC1 domain family, member 22B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564987	Tbc1d22b	TBC1 domain family, member 22B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564990	Gorab	golgin, RAB6-interacting	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564990	Gorab	golgin, RAB6-interacting	gene	DOID:0111266	geroderma osteodysplasticum		ISO	RGD:1603372	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18997784
1564990	Gorab	golgin, RAB6-interacting	gene	DOID:0111266	geroderma osteodysplasticum		ISO	RGD:1603372	D	RGD:7240710	20130221	OMIM			
1564990	Gorab	golgin, RAB6-interacting	gene	DOID:0111266	geroderma osteodysplasticum		ISO	RGD:1603372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GERODERMA OSTEODYSPLASTICUM | ClinVar Annotator: match by term: GORAB-related condition | ClinVar Annotator: match by term: Geroderma osteodysplastica | ClinVar Annotator: match by term: Geroderma osteodysplasticum | ClinVar Annotator: match by term: Walt Disney dwarfism | ClinVar Annotator: match by term: geroderma osteodysplastica	PMID:18997784|PMID:19681135|PMID:25741868|PMID:28492532|PMID:28807865|PMID:31829210
1564990	Gorab	golgin, RAB6-interacting	gene	DOID:11476	osteoporosis		ISO	RGD:1603372	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18997784
1564990	Gorab	golgin, RAB6-interacting	gene	DOID:3144	cutis laxa		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:18997784|PMID:19681135|PMID:25741868|PMID:28492532
1564990	Gorab	golgin, RAB6-interacting	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1564990	Gorab	golgin, RAB6-interacting	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564990	Gorab	golgin, RAB6-interacting	gene	DOID:630	genetic disease		ISO	RGD:1603372	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18997784|PMID:19681135|PMID:25741868|PMID:28492532|PMID:28807865
1564990	Gorab	golgin, RAB6-interacting	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564990	Gorab	golgin, RAB6-interacting	gene	DOID:9001946	Skin Abnormalities		ISO	RGD:1603372	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18997784
1564990	Gorab	golgin, RAB6-interacting	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564990	Gorab	golgin, RAB6-interacting	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564991	Gal3st3	galactose-3-O-sulfotransferase 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343263	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1564991	Gal3st3	galactose-3-O-sulfotransferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1343263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564991	Gal3st3	galactose-3-O-sulfotransferase 3	gene	DOID:3275	thymoma		ISO	RGD:1343263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564991	Gal3st3	galactose-3-O-sulfotransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564993	Med27	mediator complex subunit 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1564993	Med27	mediator complex subunit 27	gene	DOID:0080422	Dravet syndrome		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy	PMID:25741868|PMID:33443317
1564993	Med27	mediator complex subunit 27	gene	DOID:10534	stomach cancer		ISO	RGD:1349942	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564993	Med27	mediator complex subunit 27	gene	DOID:1059	intellectual disability		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:33443317|PMID:37517035
1564993	Med27	mediator complex subunit 27	gene	DOID:10907	microcephaly		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:33443317|PMID:37517035
1564993	Med27	mediator complex subunit 27	gene	DOID:1115	sarcoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1564993	Med27	mediator complex subunit 27	gene	DOID:12859	choreatic disease		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868|PMID:33443317|PMID:37517035
1564993	Med27	mediator complex subunit 27	gene	DOID:1324	lung cancer		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1564993	Med27	mediator complex subunit 27	gene	DOID:1826	epilepsy		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:33443317|PMID:37517035
1564993	Med27	mediator complex subunit 27	gene	DOID:1909	melanoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564993	Med27	mediator complex subunit 27	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1564993	Med27	mediator complex subunit 27	gene	DOID:3275	thymoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1564993	Med27	mediator complex subunit 27	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:25741868|PMID:33443317|PMID:37517035
1564993	Med27	mediator complex subunit 27	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1564993	Med27	mediator complex subunit 27	gene	DOID:4362	cervical cancer		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1564993	Med27	mediator complex subunit 27	gene	DOID:543	dystonia		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:33443317|PMID:37517035
1564993	Med27	mediator complex subunit 27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1564993	Med27	mediator complex subunit 27	gene	DOID:630	genetic disease		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1564993	Med27	mediator complex subunit 27	gene	DOID:83	cataract		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868|PMID:33443317|PMID:37517035
1564993	Med27	mediator complex subunit 27	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:25741868|PMID:33443317|PMID:37517035
1564993	Med27	mediator complex subunit 27	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:25741868|PMID:33443317|PMID:37517035
1564993	Med27	mediator complex subunit 27	gene	DOID:9003448	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA		ISO	RGD:1349942	D	RGD:7240710	20210519	OMIM			
1564993	Med27	mediator complex subunit 27	gene	DOID:9003448	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	PMID:25741868|PMID:33443317|PMID:37517035
1564993	Med27	mediator complex subunit 27	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1564993	Med27	mediator complex subunit 27	gene	DOID:9007661	Dwarfism		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1564993	Med27	mediator complex subunit 27	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:33443317|PMID:37517035
1564993	Med27	mediator complex subunit 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1564996	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1564996	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:10534	stomach cancer		ISO	RGD:1344271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1564996	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:1909	melanoma		ISO	RGD:1344271	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17187358
1564996	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:1909	melanoma		ISO	RGD:1344271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1564996	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1344271	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1564996	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1564996	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1564996	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:1344271	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20512145
1564996	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1564996	Tnfrsf19	TNF receptor superfamily member 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565000	Fabp12	fatty acid binding protein 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2302158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565002	Dhrs7	dehydrogenase/reductase 7	gene	DOID:0050742	nicotine dependence		ISO	RGD:1317573	D	RGD:11554173	20241105	CTD		CTD Direct Evidence: marker/mechanism	PMID:29216386
1565002	Dhrs7	dehydrogenase/reductase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565002	Dhrs7	dehydrogenase/reductase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565002	Dhrs7	dehydrogenase/reductase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565002	Dhrs7	dehydrogenase/reductase 7	gene	DOID:1324	lung cancer		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565002	Dhrs7	dehydrogenase/reductase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565002	Dhrs7	dehydrogenase/reductase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565002	Dhrs7	dehydrogenase/reductase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565002	Dhrs7	dehydrogenase/reductase 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317573	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1565002	Dhrs7	dehydrogenase/reductase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565002	Dhrs7	dehydrogenase/reductase 7	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1317573	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1565002	Dhrs7	dehydrogenase/reductase 7	gene	DOID:9452	steatotic liver disease		ISO	RGD:1317573	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:1601869	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838196
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory	PMID:19838196|PMID:25741868|PMID:28492532
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:0070150	hereditary sensory and autonomic neuropathy type 2B		ISO	RGD:1601869	D	RGD:7240710	20161012	OMIM			
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:0070150	hereditary sensory and autonomic neuropathy type 2B		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2B | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type IIB | ClinVar Annotator: match by term: RETREG1-related condition	PMID:17576681|PMID:19838196|PMID:24327336|PMID:25741868|PMID:28492532|PMID:31475481|PMID:9536098
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:0070155	hereditary sensory and autonomic neuropathy type 2A		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA	PMID:19838196|PMID:25741868|PMID:28492532
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:0070161	hereditary sensory and autonomic neuropathy type 2		ISO	RGD:1601869	D	RGD:11554173	20200121	CTD		CTD Direct Evidence: marker/mechanism	
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:0070161	hereditary sensory and autonomic neuropathy type 2		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II	PMID:19838196|PMID:25741868
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:19838196|PMID:25741868
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:327	syringomyelia		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Morvan disease	PMID:19838196|PMID:25741868
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1601869	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:630	genetic disease		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31475481
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:9003855	Vesicoureteral Reflux 5		ISO	RGD:12057336	D	RGD:9068941	20250116	OMIA		Neuropathy, sensory, RETREG1-related	PMID:15971901|PMID:16266014|PMID:23123885|PMID:27527794|PMID:30307654|PMID:30955094|PMID:34387380|PMID:38003185|PMID:39377488|PMID:6295050
1565003	Retreg1	reticulophagy regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1	PMID:25741868|PMID:28492532
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:0050459	hyperphosphatemia		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperphosphatemia	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:1074	kidney failure		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:10907	microcephaly		ISO	RGD:1353956	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:1115	sarcoma		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:11714	gestational diabetes		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:11782	astigmatism		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:14755	argininosuccinic aciduria		ISO	RGD:1353956	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Argininosuccinate lyase deficiency	PMID:25741868|PMID:28492532|PMID:30569574|PMID:34627339|PMID:35234134
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:1920	hyperuricemia		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperuricemia	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:3275	thymoma		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:4362	cervical cancer		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:6225	Cronkhite-Canada syndrome		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal polyposis	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:630	genetic disease		ISO	RGD:1353956	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:783	end stage renal disease		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:8577	ulcerative colitis		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ulcerative colitis	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1353956	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	PMID:25741868|PMID:26582918|PMID:28492532|PMID:30569574|PMID:34627339|PMID:35234134|PMID:39017987|PMID:40844121
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:9003030	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis		ISO	RGD:1353956	D	RGD:7240710	20140911	OMIM			
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:9003030	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis		ISO	RGD:1353956	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POC1A-related condition | ClinVar Annotator: match by term: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	PMID:25741868|PMID:28492532
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:9006743	Spasm		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipoproteinemia	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:9007661	Dwarfism		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:9351	diabetes mellitus		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868
1565004	Poc1a	POC1 centriolar protein A	gene	DOID:9970	obesity		ISO	RGD:1353956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1565005	Wdr43	WD repeat domain 43	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565005	Wdr43	WD repeat domain 43	gene	DOID:10534	stomach cancer		ISO	RGD:1344839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565005	Wdr43	WD repeat domain 43	gene	DOID:1324	lung cancer		ISO	RGD:1344839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1565005	Wdr43	WD repeat domain 43	gene	DOID:1909	melanoma		ISO	RGD:1344839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565005	Wdr43	WD repeat domain 43	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565005	Wdr43	WD repeat domain 43	gene	DOID:3275	thymoma		ISO	RGD:1344839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565005	Wdr43	WD repeat domain 43	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565005	Wdr43	WD repeat domain 43	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1565005	Wdr43	WD repeat domain 43	gene	DOID:4362	cervical cancer		ISO	RGD:1344839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565005	Wdr43	WD repeat domain 43	gene	DOID:5041	esophageal cancer		ISO	RGD:1344839	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565005	Wdr43	WD repeat domain 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565005	Wdr43	WD repeat domain 43	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565005	Wdr43	WD repeat domain 43	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565005	Wdr43	WD repeat domain 43	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565005	Wdr43	WD repeat domain 43	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565006	Efcab11	EF-hand calcium binding domain 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565006	Efcab11	EF-hand calcium binding domain 11	gene	DOID:3275	thymoma		ISO	RGD:1343471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565006	Efcab11	EF-hand calcium binding domain 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565007	Fhip1a	FHF complex subunit HOOK interacting protein 1A	gene	DOID:0080600	COVID-19		ISO	RGD:2293812	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1565007	Fhip1a	FHF complex subunit HOOK interacting protein 1A	gene	DOID:1115	sarcoma		ISO	RGD:2293812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565007	Fhip1a	FHF complex subunit HOOK interacting protein 1A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2293812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565007	Fhip1a	FHF complex subunit HOOK interacting protein 1A	gene	DOID:4362	cervical cancer		ISO	RGD:2293812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565007	Fhip1a	FHF complex subunit HOOK interacting protein 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:2293812	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565007	Fhip1a	FHF complex subunit HOOK interacting protein 1A	gene	DOID:9002189	High Myopia		ISO	RGD:2293812	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1565007	Fhip1a	FHF complex subunit HOOK interacting protein 1A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2293812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565007	Fhip1a	FHF complex subunit HOOK interacting protein 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2293812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565015	Itgb1bp2	integrin subunit beta 1 binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565015	Itgb1bp2	integrin subunit beta 1 binding protein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1558623	D	RGD:1582491|PMID:12496958	20061110	RGD			
1565015	Itgb1bp2	integrin subunit beta 1 binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1350069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565015	Itgb1bp2	integrin subunit beta 1 binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565015	Itgb1bp2	integrin subunit beta 1 binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350069	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565015	Itgb1bp2	integrin subunit beta 1 binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565015	Itgb1bp2	integrin subunit beta 1 binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565016	Celf5	CUGBP, Elav-like family member 5	gene	DOID:1115	sarcoma		ISO	RGD:1345217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565016	Celf5	CUGBP, Elav-like family member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1345217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565016	Celf5	CUGBP, Elav-like family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565016	Celf5	CUGBP, Elav-like family member 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1345217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565016	Celf5	CUGBP, Elav-like family member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565016	Celf5	CUGBP, Elav-like family member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565016	Celf5	CUGBP, Elav-like family member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565018	Crip3	cysteine-rich protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1343897	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565018	Crip3	cysteine-rich protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565018	Crip3	cysteine-rich protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1321992	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:0061141	complex cortical dysplasia with other brain malformations 12		ISO	RGD:1321992	D	RGD:7240710	20230505	OMIM			
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:0061141	complex cortical dysplasia with other brain malformations 12		ISO	RGD:1321992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAMSAP1-related neuronal migration disorder | ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 12	PMID:25741868
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1321992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: microcephaly	PMID:25741868
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1321992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1321992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizures	PMID:25741868
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1321992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1321992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1321992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1321992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:480	movement disease		ISO	RGD:1321992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321992	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:630	genetic disease		ISO	RGD:1321992	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1321992	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1321992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565022	Camsap1	calmodulin regulated spectrin-associated protein 1	gene	DOID:9834	hyperopia		ISO	RGD:1321992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1565023	Ecd	ecdysoneless cell cycle regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565023	Ecd	ecdysoneless cell cycle regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565023	Ecd	ecdysoneless cell cycle regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565023	Ecd	ecdysoneless cell cycle regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565023	Ecd	ecdysoneless cell cycle regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565023	Ecd	ecdysoneless cell cycle regulator	gene	DOID:3070	high grade glioma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565023	Ecd	ecdysoneless cell cycle regulator	gene	DOID:3275	thymoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565023	Ecd	ecdysoneless cell cycle regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565023	Ecd	ecdysoneless cell cycle regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565023	Ecd	ecdysoneless cell cycle regulator	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1565023	Ecd	ecdysoneless cell cycle regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565023	Ecd	ecdysoneless cell cycle regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565023	Ecd	ecdysoneless cell cycle regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565023	Ecd	ecdysoneless cell cycle regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1565025	Kcnk7	potassium two pore domain channel subfamily K member 7	gene	DOID:1115	sarcoma		ISO	RGD:1604643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565025	Kcnk7	potassium two pore domain channel subfamily K member 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565025	Kcnk7	potassium two pore domain channel subfamily K member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565028	Suv39h1	SUV39H1 histone lysine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565028	Suv39h1	SUV39H1 histone lysine methyltransferase	gene	DOID:0060071	pre-malignant neoplasm		IEP		D	RGD:9586726|PMID:16497704	20141002	RGD			
1565028	Suv39h1	SUV39H1 histone lysine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1348120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565028	Suv39h1	SUV39H1 histone lysine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565028	Suv39h1	SUV39H1 histone lysine methyltransferase	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:1348120	D	RGD:11554173	20220322	CTD		CTD Direct Evidence: marker/mechanism	PMID:29391238
1565028	Suv39h1	SUV39H1 histone lysine methyltransferase	gene	DOID:9005834	Ependymomas		ISO	RGD:1348120	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1565028	Suv39h1	SUV39H1 histone lysine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565028	Suv39h1	SUV39H1 histone lysine methyltransferase	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1348120	D	RGD:11554173	20220322	CTD		CTD Direct Evidence: marker/mechanism	PMID:29391238
1565028	Suv39h1	SUV39H1 histone lysine methyltransferase	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	IDA		D	RGD:9586740|PMID:24752040	20141003	RGD		associated with Diabetes Mellitus, Experimental	
1565028	Suv39h1	SUV39H1 histone lysine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565029	Zfp329	zinc finger protein 329	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565029	Zfp329	zinc finger protein 329	gene	DOID:5041	esophageal cancer		ISO	RGD:1348045	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565029	Zfp329	zinc finger protein 329	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565029	Zfp329	zinc finger protein 329	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565033	C10h17orf58	similar to human chromosome 17 open reading frame 58	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565033	C10h17orf58	similar to human chromosome 17 open reading frame 58	gene	DOID:4362	cervical cancer		ISO	RGD:1605250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565033	C10h17orf58	similar to human chromosome 17 open reading frame 58	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565034	C13h1orf116	similar to human chromosome 1 open reading frame 116	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565034	C13h1orf116	similar to human chromosome 1 open reading frame 116	gene	DOID:1324	lung cancer		ISO	RGD:1604289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565034	C13h1orf116	similar to human chromosome 1 open reading frame 116	gene	DOID:4362	cervical cancer		ISO	RGD:1604289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565034	C13h1orf116	similar to human chromosome 1 open reading frame 116	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565035	Crb3	crumbs cell polarity complex component 3	gene	DOID:4362	cervical cancer		ISO	RGD:1348954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565035	Crb3	crumbs cell polarity complex component 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1348954	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565035	Crb3	crumbs cell polarity complex component 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565035	Crb3	crumbs cell polarity complex component 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565037	Selenom	selenoprotein M	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565037	Selenom	selenoprotein M	gene	DOID:4362	cervical cancer		ISO	RGD:1603181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565037	Selenom	selenoprotein M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565037	Selenom	selenoprotein M	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603181	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:0050668	alcohol-related birth defects		ISO	RGD:1346816	D	RGD:597830081|PMID:31372216	20250304	RGD		associated with cleft lip; DNA:SNP: :rs2294035, rs4876274	
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:0060041	autism spectrum disorder		ISS	RGD:1623777	D	RGD:13592920	20190425	MouseDO			
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:10534	stomach cancer		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1346816	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10319589|PMID:24627108|PMID:25025039|PMID:25741868|PMID:28492532
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:1324	lung cancer		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:1909	melanoma		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:3275	thymoma		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:4362	cervical cancer		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1346816	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:9002402	Slowed Nerve Conduction Velocity, Autosomal Dominant		ISO	RGD:1346816	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:9002402	Slowed Nerve Conduction Velocity, Autosomal Dominant		ISO	RGD:1346816	D	RGD:7240710	20130731	OMIM			
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:9002402	Slowed Nerve Conduction Velocity, Autosomal Dominant		ISO	RGD:1346816	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARHGEF10-related condition | ClinVar Annotator: match by term: Autosomal dominant slowed nerve conduction velocity | ClinVar Annotator: match by term: Slowed nerve conduction velocity, autosomal dominant | ClinVar Annotator: match by term: autosomal dominant slowed nerve conduction velocity	PMID:10319589|PMID:25025039|PMID:25164601|PMID:25741868|PMID:28492532|PMID:29653320
1565043	Arhgef10	Rho guanine nucleotide exchange factor 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565049	Zfp1	zinc finger protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565049	Zfp1	zinc finger protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565052	Lrrc34	leucine rich repeat containing 34	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565052	Lrrc34	leucine rich repeat containing 34	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1604227	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	
1565052	Lrrc34	leucine rich repeat containing 34	gene	DOID:10534	stomach cancer		ISO	RGD:1604227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565052	Lrrc34	leucine rich repeat containing 34	gene	DOID:12849	autistic disorder		ISO	RGD:1604227	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1565052	Lrrc34	leucine rich repeat containing 34	gene	DOID:3070	high grade glioma		ISO	RGD:1604227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565052	Lrrc34	leucine rich repeat containing 34	gene	DOID:4362	cervical cancer		ISO	RGD:1604227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565052	Lrrc34	leucine rich repeat containing 34	gene	DOID:5041	esophageal cancer		ISO	RGD:1604227	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565052	Lrrc34	leucine rich repeat containing 34	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565052	Lrrc34	leucine rich repeat containing 34	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565052	Lrrc34	leucine rich repeat containing 34	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565052	Lrrc34	leucine rich repeat containing 34	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:0070023	autosomal dominant dyskeratosis congenita 6		ISO	RGD:1351362	D	RGD:7240710	20151111	OMIM			
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:0070023	autosomal dominant dyskeratosis congenita 6		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ACD-related condition | ClinVar Annotator: match by term: ACD-related short telomere syndrome | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6	PMID:16199547|PMID:17576681|PMID:25205116|PMID:25233904|PMID:25505254|PMID:25741868|PMID:27807141|PMID:28492532|PMID:29843741|PMID:29891727|PMID:31515401|PMID:32191290|PMID:33822766|PMID:38688277|PMID:9536098
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:11830	myopia		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:1909	melanoma		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:3459	breast carcinoma		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:28492532
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:4362	cervical cancer		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:480	movement disease		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1351362	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:630	genetic disease		ISO	RGD:1351362	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29843741|PMID:30064976|PMID:31515401|PMID:9536098
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:630	genetic disease		ISO	RGD:1351362	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1351362	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:9008958	Autosomal Recessive Dyskeratosis Congenita 7		ISO	RGD:1351362	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7	PMID:25205116|PMID:25233904|PMID:25741868|PMID:27807141|PMID:28492532|PMID:31515401|PMID:33822766
1565053	Acd	ACD, shelterin complex subunit and telomerase recruitment factor	gene	DOID:9834	hyperopia		ISO	RGD:1351362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:0080074	neural tube defect		ISO	RGD:1321471	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Neural tube defect	PMID:25741868
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:10534	stomach cancer		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:10907	microcephaly		ISO	RGD:1321471	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:1115	sarcoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:1324	lung cancer		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:1909	melanoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:3275	thymoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:4362	cervical cancer		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1321471	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:9003566	Mesothelioma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565055	Scrib	scribble planar cell polarity protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia	
1565059	Miso1	mitochondrial inner membrane subdomain organizer 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565059	Miso1	mitochondrial inner membrane subdomain organizer 1	gene	DOID:1115	sarcoma		ISO	RGD:1605242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565059	Miso1	mitochondrial inner membrane subdomain organizer 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605242	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565059	Miso1	mitochondrial inner membrane subdomain organizer 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565059	Miso1	mitochondrial inner membrane subdomain organizer 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565059	Miso1	mitochondrial inner membrane subdomain organizer 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565061	Spem2	SPEM family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565062	Spag16	sperm associated antigen 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565062	Spag16	sperm associated antigen 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565062	Spag16	sperm associated antigen 16	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1352269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:31680123
1565062	Spag16	sperm associated antigen 16	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1352269	D	RGD:8554872	20191210	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:25741868|PMID:31680123
1565062	Spag16	sperm associated antigen 16	gene	DOID:10534	stomach cancer		ISO	RGD:1352269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565062	Spag16	sperm associated antigen 16	gene	DOID:6039	uveal melanoma		ISO	RGD:1352269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565062	Spag16	sperm associated antigen 16	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565062	Spag16	sperm associated antigen 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565062	Spag16	sperm associated antigen 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565064	Serac1	serine active site containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:37432431|PMID:9536098
1565064	Serac1	serine active site containing 1	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1349770	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder	PMID:24033266
1565064	Serac1	serine active site containing 1	gene	DOID:0110001	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome		ISO	RGD:1349770	D	RGD:7240710	20140903	OMIM			
1565064	Serac1	serine active site containing 1	gene	DOID:0110001	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome		ISO	RGD:1349770	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL | ClinVar Annotator: match by term: MEGDEL syndrome | ClinVar Annotator: match by term: SERAC1-related disorder | ClinVar Annotator: match by term: SERAC1-related neurological disorder	PMID:16199547|PMID:17576681|PMID:22683713|PMID:23707711|PMID:24033266|PMID:24997715|PMID:25016221|PMID:25741868|PMID:27604308|PMID:28482397|PMID:28492532|PMID:28778788|PMID:29205472|PMID:29686941|PMID:31251474|PMID:32005694|PMID:32313153|PMID:33613893|PMID:35094435|PMID:36413997|PMID:37432431|PMID:37712079|PMID:38703036|PMID:40714654|PMID:9536098
1565064	Serac1	serine active site containing 1	gene	DOID:0110001	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome		ISS	RGD:1557153	D	RGD:13592920	20230718	MouseDO		OMIM:614739	
1565064	Serac1	serine active site containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1565064	Serac1	serine active site containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565064	Serac1	serine active site containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1565064	Serac1	serine active site containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
1565064	Serac1	serine active site containing 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1565064	Serac1	serine active site containing 1	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:1349770	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22683713
1565064	Serac1	serine active site containing 1	gene	DOID:3275	thymoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1565064	Serac1	serine active site containing 1	gene	DOID:3652	Leigh disease		ISO	RGD:1349770	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868
1565064	Serac1	serine active site containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565064	Serac1	serine active site containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349770	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565064	Serac1	serine active site containing 1	gene	DOID:543	dystonia		ISO	RGD:1349770	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22683713
1565064	Serac1	serine active site containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565064	Serac1	serine active site containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1565064	Serac1	serine active site containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565064	Serac1	serine active site containing 1	gene	DOID:630	genetic disease		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:37432431|PMID:9536098
1565064	Serac1	serine active site containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1565064	Serac1	serine active site containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1565064	Serac1	serine active site containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565064	Serac1	serine active site containing 1	gene	DOID:9008681	Deafness		ISO	RGD:1349770	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22683713
1565064	Serac1	serine active site containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565064	Serac1	serine active site containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565067	Shld2	shieldin complex subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565067	Shld2	shieldin complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565067	Shld2	shieldin complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1354134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565067	Shld2	shieldin complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1354134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565067	Shld2	shieldin complex subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565067	Shld2	shieldin complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565067	Shld2	shieldin complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565078	Zc3h12c	zinc finger CCCH type containing 12C	gene	DOID:0110034	X-linked Alport syndrome		ISO	RGD:1602083	D	RGD:8554872	20210907	ClinVar		ClinVar Annotator: match by term: X-linked Alport syndrome	PMID:25741868
1565078	Zc3h12c	zinc finger CCCH type containing 12C	gene	DOID:10534	stomach cancer		ISO	RGD:1602083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565078	Zc3h12c	zinc finger CCCH type containing 12C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565078	Zc3h12c	zinc finger CCCH type containing 12C	gene	DOID:1324	lung cancer		ISO	RGD:1602083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565078	Zc3h12c	zinc finger CCCH type containing 12C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565078	Zc3h12c	zinc finger CCCH type containing 12C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565078	Zc3h12c	zinc finger CCCH type containing 12C	gene	DOID:8893	psoriasis		ISO	RGD:1602083	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143594
1565078	Zc3h12c	zinc finger CCCH type containing 12C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565078	Zc3h12c	zinc finger CCCH type containing 12C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565079	Tlcd5	TLC domain containing 5	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1603164	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553957
1565079	Tlcd5	TLC domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1603164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565082	Nrde2	NRDE-2, necessary for RNA interference, domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565082	Nrde2	NRDE-2, necessary for RNA interference, domain containing	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1565082	Nrde2	NRDE-2, necessary for RNA interference, domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1351142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565082	Nrde2	NRDE-2, necessary for RNA interference, domain containing	gene	DOID:1909	melanoma		ISO	RGD:1351142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565082	Nrde2	NRDE-2, necessary for RNA interference, domain containing	gene	DOID:3070	high grade glioma		ISO	RGD:1351142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565082	Nrde2	NRDE-2, necessary for RNA interference, domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1351142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565082	Nrde2	NRDE-2, necessary for RNA interference, domain containing	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565082	Nrde2	NRDE-2, necessary for RNA interference, domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565082	Nrde2	NRDE-2, necessary for RNA interference, domain containing	gene	DOID:6039	uveal melanoma		ISO	RGD:1351142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565082	Nrde2	NRDE-2, necessary for RNA interference, domain containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565082	Nrde2	NRDE-2, necessary for RNA interference, domain containing	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351142	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1565082	Nrde2	NRDE-2, necessary for RNA interference, domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565082	Nrde2	NRDE-2, necessary for RNA interference, domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:0070297	primary microcephaly		ISO	RGD:1343596	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: primary microcephaly	PMID:25741868
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:0112163	spermatogenic failure 45		ISO	RGD:1343596	D	RGD:7240710	20201202	OMIM			
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:0112163	spermatogenic failure 45		ISO	RGD:1343596	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DNAH2-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 45 | ClinVar Annotator: match by term: Spermatogenic failure 45 | ClinVar Annotator: match by term: spermatogenic failure 45	PMID:24033266|PMID:25741868|PMID:28492532
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343596	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:1324	lung cancer		ISO	RGD:1343596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:1909	melanoma		ISO	RGD:1343596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:3275	thymoma		ISO	RGD:1343596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343596	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:630	genetic disease		ISO	RGD:1343596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:9005315	Laterality Defects, Autosomal Dominant		ISO	RGD:1343596	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Laterality defects, autosomal dominant	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565087	Dnah2	dynein, axonemal, heavy chain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565090	Hmgcll1	3-hydroxy-3-methylglutaryl-CoA lyase like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565090	Hmgcll1	3-hydroxy-3-methylglutaryl-CoA lyase like 1	gene	DOID:1324	lung cancer		ISO	RGD:1352812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565090	Hmgcll1	3-hydroxy-3-methylglutaryl-CoA lyase like 1	gene	DOID:3275	thymoma		ISO	RGD:1352812	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565090	Hmgcll1	3-hydroxy-3-methylglutaryl-CoA lyase like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565090	Hmgcll1	3-hydroxy-3-methylglutaryl-CoA lyase like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565090	Hmgcll1	3-hydroxy-3-methylglutaryl-CoA lyase like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565090	Hmgcll1	3-hydroxy-3-methylglutaryl-CoA lyase like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565091	Hunk	hormonally upregulated Neu-associated kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565091	Hunk	hormonally upregulated Neu-associated kinase	gene	DOID:1115	sarcoma		ISO	RGD:1344314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565091	Hunk	hormonally upregulated Neu-associated kinase	gene	DOID:1909	melanoma		ISO	RGD:1344314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565091	Hunk	hormonally upregulated Neu-associated kinase	gene	DOID:3275	thymoma		ISO	RGD:1344314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565091	Hunk	hormonally upregulated Neu-associated kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1344314	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565091	Hunk	hormonally upregulated Neu-associated kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1344314	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565091	Hunk	hormonally upregulated Neu-associated kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565095	Coa5	cytochrome C oxidase assembly factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565095	Coa5	cytochrome C oxidase assembly factor 5	gene	DOID:0080357	mitochondrial complex IV deficiency nuclear type 2		ISO	RGD:1604134	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1565095	Coa5	cytochrome C oxidase assembly factor 5	gene	DOID:0080359	mitochondrial complex IV deficiency nuclear type 9		ISO	RGD:1604134	D	RGD:7240710	20170301	OMIM			
1565095	Coa5	cytochrome C oxidase assembly factor 5	gene	DOID:0080359	mitochondrial complex IV deficiency nuclear type 9		ISO	RGD:1604134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	
1565096	Knop1	lysine-rich nucleolar protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565096	Knop1	lysine-rich nucleolar protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565096	Knop1	lysine-rich nucleolar protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606640	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565096	Knop1	lysine-rich nucleolar protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565096	Knop1	lysine-rich nucleolar protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606640	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565096	Knop1	lysine-rich nucleolar protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
1565098	Cmtm4	CKLF-like MARVEL transmembrane domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565098	Cmtm4	CKLF-like MARVEL transmembrane domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565098	Cmtm4	CKLF-like MARVEL transmembrane domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1320683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565098	Cmtm4	CKLF-like MARVEL transmembrane domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565098	Cmtm4	CKLF-like MARVEL transmembrane domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565098	Cmtm4	CKLF-like MARVEL transmembrane domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565098	Cmtm4	CKLF-like MARVEL transmembrane domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565099	Klf13	KLF transcription factor 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565099	Klf13	KLF transcription factor 13	gene	DOID:0060394	chromosome 15q13.3 microdeletion syndrome		ISO	RGD:1344641	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	
1565099	Klf13	KLF transcription factor 13	gene	DOID:1115	sarcoma		ISO	RGD:1344641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565099	Klf13	KLF transcription factor 13	gene	DOID:1682	congenital heart disease		ISO	RGD:1344641	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
1565099	Klf13	KLF transcription factor 13	gene	DOID:1909	melanoma		ISO	RGD:1344641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565099	Klf13	KLF transcription factor 13	gene	DOID:289	endometriosis		ISO	RGD:1344641	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
1565099	Klf13	KLF transcription factor 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565099	Klf13	KLF transcription factor 13	gene	DOID:5844	myocardial infarction		ISO	RGD:1344641	D	RGD:11554173	20191112	CTD		CTD Direct Evidence: marker/mechanism	PMID:29122578
1565099	Klf13	KLF transcription factor 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1344641	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532
1565100	Alpg	alkaline phosphatase, germ cell	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565100	Alpg	alkaline phosphatase, germ cell	gene	DOID:1324	lung cancer		ISO	RGD:1347925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565100	Alpg	alkaline phosphatase, germ cell	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565100	Alpg	alkaline phosphatase, germ cell	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1347925	D	RGD:11554173	20170829	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1565101	Foxj2	forkhead box J2	gene	DOID:10534	stomach cancer		ISO	RGD:1344904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565101	Foxj2	forkhead box J2	gene	DOID:1115	sarcoma		ISO	RGD:1344904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565101	Foxj2	forkhead box J2	gene	DOID:1909	melanoma		ISO	RGD:1344904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565101	Foxj2	forkhead box J2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565106	Rpl12	ribosomal protein L12	gene	DOID:10534	stomach cancer		ISO	RGD:1314871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565106	Rpl12	ribosomal protein L12	gene	DOID:2394	ovarian cancer		ISO	RGD:1314871	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1565106	Rpl12	ribosomal protein L12	gene	DOID:4362	cervical cancer		ISO	RGD:1314871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565106	Rpl12	ribosomal protein L12	gene	DOID:5041	esophageal cancer		ISO	RGD:1314871	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565106	Rpl12	ribosomal protein L12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565106	Rpl12	ribosomal protein L12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565106	Rpl12	ribosomal protein L12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565106	Rpl12	ribosomal protein L12	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314871	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1565106	Rpl12	ribosomal protein L12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565106	Rpl12	ribosomal protein L12	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1314871	D	RGD:11035232|PMID:11161982	20160211	RGD			
1565106	Rpl12	ribosomal protein L12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565111	Awat2	acyl-CoA wax alcohol acyltransferase 2	gene	DOID:10140	dry eye syndrome		ISS	RGD:1558296	D	RGD:13592920	20210819	MouseDO			
1565111	Awat2	acyl-CoA wax alcohol acyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565111	Awat2	acyl-CoA wax alcohol acyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565118	Ablim3	actin binding LIM protein family, member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565118	Ablim3	actin binding LIM protein family, member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1354406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565118	Ablim3	actin binding LIM protein family, member 3	gene	DOID:1115	sarcoma		ISO	RGD:1354406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565118	Ablim3	actin binding LIM protein family, member 3	gene	DOID:1324	lung cancer		ISO	RGD:1354406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565118	Ablim3	actin binding LIM protein family, member 3	gene	DOID:1909	melanoma		ISO	RGD:1354406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565118	Ablim3	actin binding LIM protein family, member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1354406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565118	Ablim3	actin binding LIM protein family, member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565118	Ablim3	actin binding LIM protein family, member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1354406	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565118	Ablim3	actin binding LIM protein family, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565118	Ablim3	actin binding LIM protein family, member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565118	Ablim3	actin binding LIM protein family, member 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1354406	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1565118	Ablim3	actin binding LIM protein family, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1344161	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Senior Loken syndrome	PMID:25741868
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1344161	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1344161	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome	PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33532864|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1344161	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome	PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33532864|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1344161	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome	PMID:15133511|PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26294094|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33323469|PMID:33532864|PMID:33547761|PMID:33875766|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1344161	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar Annotator: match by term: Thoracic pelvic phalangeal dystrophy	PMID:15133511|PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:25741905|PMID:26068938|PMID:26294094|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33323469|PMID:33532864|PMID:33547761|PMID:33875766|PMID:36263627|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1344161	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome	PMID:15133511|PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26294094|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33323469|PMID:33532864|PMID:33547761|PMID:33875766|PMID:36263627|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1344161	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome	PMID:15133511|PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26294094|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28124483|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33323469|PMID:33532864|PMID:33547761|PMID:33875766|PMID:34627339|PMID:36263627|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1344161	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome	PMID:16199547|PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26294094|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28124483|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33547761|PMID:33875766|PMID:34627339|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short ribs | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:16199547|PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28124483|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33547761|PMID:33875766|PMID:34627339|PMID:35695966|PMID:37230223|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1344161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Majewski type | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:16199547|PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26489029|PMID:26940125|PMID:27491411|PMID:27894351|PMID:28124483|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33547761|PMID:33875766|PMID:34426522|PMID:34627339|PMID:35695966|PMID:36263627|PMID:37230223|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:1344161	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0110085	asphyxiating thoracic dystrophy 1		ISO	RGD:1344161	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258341
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0110085	asphyxiating thoracic dystrophy 1		ISO	RGD:1344161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome	PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:27894351|PMID:28492532|PMID:29068549|PMID:34426522|PMID:34627339|PMID:35695966|PMID:36263627|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0110088	asphyxiating thoracic dystrophy 4		ISO	RGD:1344161	D	RGD:7240710	20140903	OMIM			
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0110088	asphyxiating thoracic dystrophy 4		ISO	RGD:1344161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY	PMID:16199547|PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26489029|PMID:26940125|PMID:27491411|PMID:27894351|PMID:28492532|PMID:29068549|PMID:29127259|PMID:34426522|PMID:34627339|PMID:35695966|PMID:36263627|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1344161	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly | ClinVar Annotator: match by term: short-rib polydactyly syndrome type II	PMID:18327258|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:27491411|PMID:28492532|PMID:29068549
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1344161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 1	PMID:21258341|PMID:24033266|PMID:25741868|PMID:26940125|PMID:28492532|PMID:34426522|PMID:36263627
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1344161	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1344161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:27894351|PMID:28492532|PMID:29068549|PMID:34426522|PMID:34627339|PMID:35695966|PMID:36263627|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0111113	nephronophthisis 2		ISO	RGD:1344161	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Infantile nephronophthisis	PMID:16199547|PMID:18327258|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:27491411|PMID:28492532|PMID:29068549
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0111119	nephronophthisis 12		ISO	RGD:1344161	D	RGD:7240710	20140911	OMIM			
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:0111119	nephronophthisis 12		ISO	RGD:1344161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEPHRONOPHTHISIS 12 | ClinVar Annotator: match by term: Nephronophthisis 12 | ClinVar Annotator: match by term: TTC21B-related disorder	PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26489029|PMID:26940125|PMID:27491411|PMID:27894351|PMID:28492532|PMID:29068549|PMID:29127259|PMID:31208513|PMID:34426522|PMID:34627339|PMID:35695966|PMID:36263627|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:10534	stomach cancer		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:1115	sarcoma		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1344161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:28492532|PMID:29127259
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:12712	nephronophthisis		ISO	RGD:1344161	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:33532864
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:12712	nephronophthisis		ISO	RGD:1344161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26489029|PMID:26940125|PMID:27491411|PMID:27894351|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:34426522|PMID:34627339|PMID:35695966|PMID:36263627|PMID:37230223|PMID:9536098
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:1324	lung cancer		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:1909	melanoma		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:2237	hepatitis		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hepatitis	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:2975	cystic kidney disease		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:2975	cystic kidney disease		ISS	RGD:1557198	D	RGD:13592920	20190117	MouseDO			
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:303	substance-related disorder		ISO	RGD:1344161	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:4362	cervical cancer		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:480	movement disease		ISO	RGD:1344161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:21258341|PMID:22773737|PMID:24876116|PMID:25741868|PMID:28492532
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:5041	esophageal cancer		ISO	RGD:1344161	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:557	kidney disease		ISO	RGD:1344161	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258341
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:630	genetic disease		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30076350
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:65	connective tissue disease		ISO	RGD:1344161	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:18414213|PMID:21258341|PMID:24033266|PMID:25741868|PMID:28492532
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:65	connective tissue disease		ISO	RGD:1344161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:18414213|PMID:21258341|PMID:24033266|PMID:25741868|PMID:26489029|PMID:26940125|PMID:27894351|PMID:28492532|PMID:34426522|PMID:35695966|PMID:36263627
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:784	chronic kidney disease		ISO	RGD:1344161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:21258341|PMID:24033266|PMID:25741868|PMID:26940125|PMID:28492532|PMID:34426522|PMID:36263627
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1344161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:21258341|PMID:22773737|PMID:24876116|PMID:25741868|PMID:28492532
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:9006697	Congenital Hepatic Fibrosis		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hepatic fibrosis	PMID:25741868
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:9008023	Memory Disorders		ISO	RGD:1344161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:21258341|PMID:22773737|PMID:24876116|PMID:25741868|PMID:28492532
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:9249	Beemer-Langer syndrome		ISO	RGD:1344161	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: short-rib polydactyly syndrome type IV	PMID:18327258|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:27491411|PMID:28492532|PMID:29068549
1565122	Ttc21b	tetratricopeptide repeat domain 21B	gene	DOID:9834	hyperopia		ISO	RGD:1344161	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:21258341|PMID:22773737|PMID:24876116|PMID:25741868|PMID:28492532
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:0050817	Stargardt disease		ISO	RGD:1345059	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Stargardt disease	PMID:25741868
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1345059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 3	
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:0110415	retinitis pigmentosa 2		ISO	RGD:1345059	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:0110415	retinitis pigmentosa 2		ISO	RGD:1345059	D	RGD:7240710	20130425	OMIM			
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:0110415	retinitis pigmentosa 2		ISO	RGD:1345059	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 2 | ClinVar Annotator: match by term: RP2-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 2	PMID:10090907|PMID:10520237|PMID:10942419|PMID:11462235|PMID:11992260|PMID:12037013|PMID:12657579|PMID:16199547|PMID:17576681|PMID:17724181|PMID:20021257|PMID:20106869|PMID:20625056|PMID:20729296|PMID:22072390|PMID:25741868|PMID:28209709|PMID:28492532|PMID:30576320|PMID:30718709|PMID:31079036|PMID:32856788|PMID:32875684|PMID:33546218|PMID:33576794|PMID:34008892|PMID:34426522|PMID:34906470|PMID:34906488|PMID:35814500|PMID:36423731|PMID:9536098|PMID:9697692
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:0110415	retinitis pigmentosa 2		ISS	RGD:1558232	D	RGD:13592920	20230718	MouseDO		OMIM:312600	
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345059	D	RGD:1599605|PMID:10937588	20070208	RGD			
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345059	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10053026|PMID:10090907|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11992260|PMID:12657579|PMID:15032968|PMID:17724181|PMID:20021257|PMID:20625056|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:29847639|PMID:30718709|PMID:31456290|PMID:9697692
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345059	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10053026|PMID:10090907|PMID:10520237|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11826029|PMID:11992260|PMID:12657579|PMID:15032968|PMID:17093403|PMID:17724181|PMID:20021257|PMID:20625056|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:29847639|PMID:30718709|PMID:31456290|PMID:9697692
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345059	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10053026|PMID:10090907|PMID:10634633|PMID:10862093|PMID:10937588|PMID:11262649|PMID:11826029|PMID:11992260|PMID:12657579|PMID:15032968|PMID:17093403|PMID:20021257|PMID:20625056|PMID:22072390|PMID:22334370|PMID:23150612|PMID:24033266|PMID:25097241|PMID:25292197|PMID:25356976|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28444310|PMID:28492532|PMID:28559085|PMID:30280194|PMID:30718709|PMID:30917587|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31630094|PMID:31816670|PMID:32531858|PMID:32581362|PMID:32875684|PMID:33411470|PMID:33576794|PMID:34921139|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9697692
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345059	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10942419|PMID:17724181|PMID:24938718|PMID:25741868|PMID:26355662|PMID:28209709|PMID:28492532|PMID:29847639|PMID:30718709|PMID:31054281|PMID:36909829|PMID:9697692
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345059	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10053026|PMID:10090907|PMID:10942419|PMID:11262649|PMID:11826029|PMID:11992260|PMID:15032968|PMID:17093403|PMID:17724181|PMID:20625056|PMID:24938718|PMID:25097241|PMID:25292197|PMID:25356976|PMID:25741868|PMID:26355662|PMID:28209709|PMID:28444310|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30280194|PMID:30718709|PMID:30917587|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31630094|PMID:31816670|PMID:32581362|PMID:32875684|PMID:33576794|PMID:34921139|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9697692
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1345059	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1345059	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:17576681|PMID:28492532|PMID:28714225|PMID:9536098
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:3275	thymoma		ISO	RGD:1345059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:5679	retinal disease		ISO	RGD:1345059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10862093|PMID:11992260|PMID:20625056|PMID:28492532
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:630	genetic disease		ISO	RGD:1345059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:8501	fundus dystrophy		ISO	RGD:1345059	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10937588|PMID:10942419|PMID:11992260|PMID:12037013|PMID:16199547|PMID:16969763|PMID:17576681|PMID:18552978|PMID:20106869|PMID:20625056|PMID:20669900|PMID:20729296|PMID:22072390|PMID:23150612|PMID:24940031|PMID:25133751|PMID:25356976|PMID:25525159|PMID:25741868|PMID:28127548|PMID:28209709|PMID:28492532|PMID:3091758|PMID:31630094|PMID:31960602|PMID:32244552|PMID:32531858|PMID:32875684|PMID:34426522|PMID:34906470|PMID:34906488|PMID:3642373|PMID:3646071|PMID:36819107|PMID:9536098
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1345059	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	
1565124	Rp2	RP2 activator of ARL3 GTPase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:10534	stomach cancer		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:1059	intellectual disability		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:1115	sarcoma		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:1324	lung cancer		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:1826	epilepsy		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:1909	melanoma		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:3070	high grade glioma		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:4362	cervical cancer		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:5041	esophageal cancer		ISO	RGD:1345428	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345428	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565126	Atp10b	ATPase phospholipid transporting 10B	gene	DOID:9970	obesity		ISO	RGD:1345428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1565132	Trmt2b	tRNA methyltransferase 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565132	Trmt2b	tRNA methyltransferase 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565132	Trmt2b	tRNA methyltransferase 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1350620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565132	Trmt2b	tRNA methyltransferase 2B	gene	DOID:1115	sarcoma		ISO	RGD:1350620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565132	Trmt2b	tRNA methyltransferase 2B	gene	DOID:1324	lung cancer		ISO	RGD:1350620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565132	Trmt2b	tRNA methyltransferase 2B	gene	DOID:1909	melanoma		ISO	RGD:1350620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565132	Trmt2b	tRNA methyltransferase 2B	gene	DOID:3070	high grade glioma		ISO	RGD:1350620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565132	Trmt2b	tRNA methyltransferase 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1350620	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565132	Trmt2b	tRNA methyltransferase 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565132	Trmt2b	tRNA methyltransferase 2B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565132	Trmt2b	tRNA methyltransferase 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565135	Rnf216	ring finger protein 216	gene	DOID:0081284	rosette-forming glioneuronal tumor		ISO	RGD:1604006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor	PMID:26822237
1565135	Rnf216	ring finger protein 216	gene	DOID:0111587	Gordon Holmes syndrome		ISO	RGD:1604006	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565135	Rnf216	ring finger protein 216	gene	DOID:0111587	Gordon Holmes syndrome		ISO	RGD:1604006	D	RGD:7240710	20141015	OMIM			
1565135	Rnf216	ring finger protein 216	gene	DOID:0111587	Gordon Holmes syndrome		ISO	RGD:1604006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome | ClinVar Annotator: match by term: GORDON HOLMES SYNDROME | ClinVar Annotator: match by term: Gordon Holmes syndrome | ClinVar Annotator: match by term: RNF216-related condition	PMID:23656588|PMID:25741868|PMID:28492532
1565135	Rnf216	ring finger protein 216	gene	DOID:10534	stomach cancer		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565135	Rnf216	ring finger protein 216	gene	DOID:10579	leukodystrophy		ISO	RGD:1604006	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	
1565135	Rnf216	ring finger protein 216	gene	DOID:1115	sarcoma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565135	Rnf216	ring finger protein 216	gene	DOID:1909	melanoma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565135	Rnf216	ring finger protein 216	gene	DOID:3070	high grade glioma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565135	Rnf216	ring finger protein 216	gene	DOID:3275	thymoma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565135	Rnf216	ring finger protein 216	gene	DOID:5041	esophageal cancer		ISO	RGD:1604006	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565135	Rnf216	ring finger protein 216	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565135	Rnf216	ring finger protein 216	gene	DOID:630	genetic disease		ISO	RGD:1604006	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1565135	Rnf216	ring finger protein 216	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565135	Rnf216	ring finger protein 216	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565140	Clec7a	C-type lectin domain containing 7A	gene	DOID:13564	aspergillosis		ISO	RGD:1350458	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565140	Clec7a	C-type lectin domain containing 7A	gene	DOID:13564	aspergillosis		ISO	RGD:1350458	D	RGD:7240710	20260722	OMIM			
1565140	Clec7a	C-type lectin domain containing 7A	gene	DOID:13564	aspergillosis		ISO	RGD:1350458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aspergillosis, susceptibility to	PMID:25741868
1565140	Clec7a	C-type lectin domain containing 7A	gene	DOID:1909	melanoma		ISO	RGD:1350458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565140	Clec7a	C-type lectin domain containing 7A	gene	DOID:5041	esophageal cancer		ISO	RGD:1350458	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565140	Clec7a	C-type lectin domain containing 7A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565140	Clec7a	C-type lectin domain containing 7A	gene	DOID:9004055	Fungal Keratitis		ISO	RGD:1558559	D	RGD:11526921|PMID:26963514	20210525	RGD		mRNA:increased expression:cornea	
1565140	Clec7a	C-type lectin domain containing 7A	gene	DOID:9004055	Fungal Keratitis	treatment	ISO	RGD:1558559	D	RGD:11526921|PMID:26963514	20210525	RGD			
1565140	Clec7a	C-type lectin domain containing 7A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565140	Clec7a	C-type lectin domain containing 7A	gene	DOID:9009037	Candidiasis, Familial, 4		ISO	RGD:1350458	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565140	Clec7a	C-type lectin domain containing 7A	gene	DOID:9009037	Candidiasis, Familial, 4		ISO	RGD:1350458	D	RGD:7240710	20260722	OMIM			
1565140	Clec7a	C-type lectin domain containing 7A	gene	DOID:9009037	Candidiasis, Familial, 4		ISO	RGD:1350458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis	PMID:25741868
1565140	Clec7a	C-type lectin domain containing 7A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565144	Dtx3l	deltex E3 ubiquitin ligase 3L	gene	DOID:1115	sarcoma		ISO	RGD:1344833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565144	Dtx3l	deltex E3 ubiquitin ligase 3L	gene	DOID:1324	lung cancer		ISO	RGD:1344833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565144	Dtx3l	deltex E3 ubiquitin ligase 3L	gene	DOID:2394	ovarian cancer		ISO	RGD:1344833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1565144	Dtx3l	deltex E3 ubiquitin ligase 3L	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1344833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1565144	Dtx3l	deltex E3 ubiquitin ligase 3L	gene	DOID:4362	cervical cancer		ISO	RGD:1344833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565144	Dtx3l	deltex E3 ubiquitin ligase 3L	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565144	Dtx3l	deltex E3 ubiquitin ligase 3L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565144	Dtx3l	deltex E3 ubiquitin ligase 3L	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565145	Gadl1	glutamate decarboxylase-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565145	Gadl1	glutamate decarboxylase-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1351528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565145	Gadl1	glutamate decarboxylase-like 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1351528	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:0060058	lymphoma		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:0060135	apraxia		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:0080422	Dravet syndrome		ISO	RGD:1318809	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Dravet syndrome	PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532|PMID:29390993
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:0090031	D-bifunctional protein deficiency		ISO	RGD:1318809	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: DBP deficiency	PMID:16385454|PMID:22279524|PMID:23035047|PMID:28492532
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318809	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:32032478|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26467025|PMID:28492532
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:28635423|PMID:31345272|PMID:32032478|PMID:32964447|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:10907	microcephaly		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:1115	sarcoma		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:11162	respiratory failure		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:11836	clubfoot		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26483087|PMID:26494257|PMID:28492532|PMID:28635423|PMID:31345272|PMID:32964447
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:28635423|PMID:31345272|PMID:32964447|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:1324	lung cancer		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:1596	depressive disorder		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:26467025|PMID:28492532
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:1826	epilepsy		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:30786674|PMID:34747546|PMID:36209187|PMID:36599696|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26483087|PMID:26494257|PMID:28492532|PMID:28635423|PMID:31345272|PMID:32964447
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:1909	melanoma		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:26467025|PMID:28492532
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318809	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:630	genetic disease		ISO	RGD:1318809	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:16452482|PMID:17576681|PMID:22279524|PMID:23035047|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26870756|PMID:26947546|PMID:27282546|PMID:27282648|PMID:27480663|PMID:27956632|PMID:28492532|PMID:28635423|PMID:28752061|PMID:30552426|PMID:30786674|PMID:31345272|PMID:31440721|PMID:32565546|PMID:32964447|PMID:34747546|PMID:35360849|PMID:36209187|PMID:36599696|PMID:37344571|PMID:9536098
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:630	genetic disease		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:16452482|PMID:17576681|PMID:22279524|PMID:23035047|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26870756|PMID:26947546|PMID:27282546|PMID:27282648|PMID:27480663|PMID:27956632|PMID:28492532|PMID:28635423|PMID:30786674|PMID:31345272|PMID:31440721|PMID:32565546|PMID:32964447|PMID:34747546|PMID:36209187|PMID:36599696|PMID:37344571|PMID:9536098
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9001733	Tinnitus		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:26467025|PMID:28492532
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9003126	Hallucinations		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:26467025|PMID:28492532
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9003268	Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal		ISO	RGD:1318809	D	RGD:7240710	20140911	OMIM			
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9003268	Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal-onset encephalopathy with rigidity and seizures | ClinVar Annotator: match by term: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL | ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal	PMID:16199547|PMID:17576681|PMID:22279524|PMID:23035047|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26870756|PMID:26947546|PMID:26964041|PMID:27282546|PMID:27282648|PMID:27480663|PMID:27956632|PMID:28492532|PMID:28635423|PMID:28752061|PMID:29375859|PMID:29390993|PMID:29431110|PMID:30552426|PMID:30786674|PMID:31345272|PMID:31440721|PMID:31618474|PMID:31868227|PMID:32032478|PMID:32139178|PMID:32565546|PMID:32600977|PMID:32964447|PMID:33040300|PMID:33820833|PMID:34747546|PMID:35360849|PMID:35620305|PMID:36209187|PMID:36599696|PMID:37344571|PMID:9536098
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:16199547|PMID:22279524|PMID:25500575|PMID:25741868|PMID:26483087|PMID:28492532|PMID:31440721
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318809	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532|PMID:30786674|PMID:36209187|PMID:36599696|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532|PMID:31440721
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9009220	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES		ISO	RGD:1318809	D	RGD:7240710	20190315	OMIM			
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9009220	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRAT1-related disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	PMID:16452482|PMID:22279524|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26870756|PMID:26947546|PMID:26964041|PMID:27282546|PMID:27282648|PMID:27480663|PMID:27956632|PMID:28492532|PMID:28635423|PMID:28752061|PMID:29375859|PMID:30552426|PMID:30786674|PMID:31345272|PMID:31440721|PMID:32565546|PMID:32964447|PMID:34747546|PMID:35360849|PMID:36209187|PMID:36599696|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:936	brain disease		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565146	Brat1	BRCA1-associated ATM activator 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1318809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:22279524|PMID:25500575|PMID:25741868|PMID:26535877|PMID:26947546|PMID:27282546|PMID:27282648|PMID:28492532|PMID:34747546|PMID:37344571
1565147	Naaladl2	N-acetylated alpha-linked acidic dipeptidase-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565147	Naaladl2	N-acetylated alpha-linked acidic dipeptidase-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565147	Naaladl2	N-acetylated alpha-linked acidic dipeptidase-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565147	Naaladl2	N-acetylated alpha-linked acidic dipeptidase-like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565147	Naaladl2	N-acetylated alpha-linked acidic dipeptidase-like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565147	Naaladl2	N-acetylated alpha-linked acidic dipeptidase-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565147	Naaladl2	N-acetylated alpha-linked acidic dipeptidase-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606935	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565147	Naaladl2	N-acetylated alpha-linked acidic dipeptidase-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565147	Naaladl2	N-acetylated alpha-linked acidic dipeptidase-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565148	Pwwp3b	PWWP domain containing 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565148	Pwwp3b	PWWP domain containing 3B	gene	DOID:12134	factor VIII deficiency		ISO	RGD:1349980	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: HEMOPHILIA, CLASSIC	PMID:31690835
1565148	Pwwp3b	PWWP domain containing 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565148	Pwwp3b	PWWP domain containing 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565148	Pwwp3b	PWWP domain containing 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565149	Vps9d1	VPS9 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565149	Vps9d1	VPS9 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565149	Vps9d1	VPS9 domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1352238	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565149	Vps9d1	VPS9 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352238	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565149	Vps9d1	VPS9 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565149	Vps9d1	VPS9 domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1352238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565149	Vps9d1	VPS9 domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1565149	Vps9d1	VPS9 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565155	Tuba3b	tubulin, alpha 3B	gene	DOID:9003415	Keratoconus 9		ISO	RGD:1606186	D	RGD:7240710	20190315	OMIM			
1565160	Mypop	Myb-related transcription factor, partner of profilin	gene	DOID:1115	sarcoma		ISO	RGD:1606912	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565160	Mypop	Myb-related transcription factor, partner of profilin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565161	Cd300c	CD300c molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565161	Cd300c	CD300c molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565161	Cd300c	CD300c molecule	gene	DOID:1909	melanoma		ISO	RGD:1349208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565161	Cd300c	CD300c molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565161	Cd300c	CD300c molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565163	Shroom2	shroom family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565163	Shroom2	shroom family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565163	Shroom2	shroom family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565163	Shroom2	shroom family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565163	Shroom2	shroom family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343092	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565163	Shroom2	shroom family member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565163	Shroom2	shroom family member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565163	Shroom2	shroom family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343092	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565163	Shroom2	shroom family member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565163	Shroom2	shroom family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565163	Shroom2	shroom family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565163	Shroom2	shroom family member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1343092	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1565163	Shroom2	shroom family member 2	gene	DOID:9849	Meniere's disease		ISO	RGD:1343092	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:25741868
1565166	C10h16orf89	similar to human chromosome 16 open reading frame 89	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565166	C10h16orf89	similar to human chromosome 16 open reading frame 89	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565166	C10h16orf89	similar to human chromosome 16 open reading frame 89	gene	DOID:1115	sarcoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565166	C10h16orf89	similar to human chromosome 16 open reading frame 89	gene	DOID:1324	lung cancer		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565166	C10h16orf89	similar to human chromosome 16 open reading frame 89	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565166	C10h16orf89	similar to human chromosome 16 open reading frame 89	gene	DOID:6039	uveal melanoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565166	C10h16orf89	similar to human chromosome 16 open reading frame 89	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565166	C10h16orf89	similar to human chromosome 16 open reading frame 89	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565168	Diras3	DIRAS family GTPase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1343615	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868
1565168	Diras3	DIRAS family GTPase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343615	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1565169	Apobr	apolipoprotein B receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565169	Apobr	apolipoprotein B receptor	gene	DOID:10534	stomach cancer		ISO	RGD:1607021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565169	Apobr	apolipoprotein B receptor	gene	DOID:1115	sarcoma		ISO	RGD:1607021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565169	Apobr	apolipoprotein B receptor	gene	DOID:1909	melanoma		ISO	RGD:1607021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565169	Apobr	apolipoprotein B receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565169	Apobr	apolipoprotein B receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565169	Apobr	apolipoprotein B receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:1607021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1565171	Atoh1	atonal bHLH transcription factor 1	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:1349240	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss	PMID:25741868
1565171	Atoh1	atonal bHLH transcription factor 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:1349240	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18347096
1565171	Atoh1	atonal bHLH transcription factor 1	gene	DOID:0070612	autosomal dominant nonsyndromic deafness 89		ISO	RGD:1349240	D	RGD:7240710	20230505	OMIM			
1565171	Atoh1	atonal bHLH transcription factor 1	gene	DOID:0070612	autosomal dominant nonsyndromic deafness 89		ISO	RGD:1349240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ATOH1-related condition	
1565171	Atoh1	atonal bHLH transcription factor 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1349240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
1565171	Atoh1	atonal bHLH transcription factor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349240	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Hearing loss	PMID:25741868
1565175	Treml1	triggering receptor expressed on myeloid cells-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565175	Treml1	triggering receptor expressed on myeloid cells-like 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1344660	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1565175	Treml1	triggering receptor expressed on myeloid cells-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565179	Dsn1	DSN1 component of MIS12 kinetochore complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565179	Dsn1	DSN1 component of MIS12 kinetochore complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565179	Dsn1	DSN1 component of MIS12 kinetochore complex	gene	DOID:1115	sarcoma		ISO	RGD:1353084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565179	Dsn1	DSN1 component of MIS12 kinetochore complex	gene	DOID:1324	lung cancer		ISO	RGD:1353084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565179	Dsn1	DSN1 component of MIS12 kinetochore complex	gene	DOID:4362	cervical cancer		ISO	RGD:1353084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565179	Dsn1	DSN1 component of MIS12 kinetochore complex	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565179	Dsn1	DSN1 component of MIS12 kinetochore complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565179	Dsn1	DSN1 component of MIS12 kinetochore complex	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1353084	D	RGD:27372884|PMID:30136646	20200529	RGD			
1565179	Dsn1	DSN1 component of MIS12 kinetochore complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565179	Dsn1	DSN1 component of MIS12 kinetochore complex	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1353084	D	RGD:27372885|PMID:27329586	20200529	RGD			
1565180	Crtap	cartilage associated protein	gene	DOID:0110337	osteogenesis imperfecta type 7		ISO	RGD:1320245	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565180	Crtap	cartilage associated protein	gene	DOID:0110337	osteogenesis imperfecta type 7		ISO	RGD:1320245	D	RGD:7240710	20211222	OMIM			
1565180	Crtap	cartilage associated protein	gene	DOID:0110337	osteogenesis imperfecta type 7		ISO	RGD:1320245	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE VII | ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 | ClinVar Annotator: match by term: Osteogenesis imperfecta, perinatal lethal autosomal recessive | ClinVar Annotator: match by term: osteogenesis imperfecta type 7	PMID:16199547|PMID:17055431|PMID:17192541|PMID:17576681|PMID:18414213|PMID:18566967|PMID:18996919|PMID:19550437|PMID:19846465|PMID:19862557|PMID:21955071|PMID:21964860|PMID:24033266|PMID:24715559|PMID:25604815|PMID:25741868|PMID:26634552|PMID:27509835|PMID:28116328|PMID:28492532|PMID:29150909|PMID:31742715|PMID:32169308|PMID:32922437|PMID:33093841|PMID:34627339|PMID:35186396|PMID:35313637|PMID:9536098
1565180	Crtap	cartilage associated protein	gene	DOID:0110337	osteogenesis imperfecta type 7		ISS	RGD:1320246	D	RGD:13592920	20230718	MouseDO		OMIM:610682	
1565180	Crtap	cartilage associated protein	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1320245	D	RGD:11554173	20211228	CTD		CTD Direct Evidence: marker/mechanism	PMID:18566967
1565180	Crtap	cartilage associated protein	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1320245	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:16199547|PMID:17055431|PMID:17192541|PMID:18996919|PMID:19550437|PMID:24033266|PMID:25741868|PMID:28492532
1565180	Crtap	cartilage associated protein	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:16199547|PMID:17055431|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:26634552|PMID:28492532|PMID:32169308|PMID:35313637
1565180	Crtap	cartilage associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565180	Crtap	cartilage associated protein	gene	DOID:630	genetic disease		ISO	RGD:1320245	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1565180	Crtap	cartilage associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16199547|PMID:17055431|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:28492532
1565180	Crtap	cartilage associated protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320245	D	RGD:11554173	20211228	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1565180	Crtap	cartilage associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565180	Crtap	cartilage associated protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:17055431|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:28492532
1565180	Crtap	cartilage associated protein	gene	DOID:9970	obesity		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:16199547|PMID:17055431|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:28492532
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1318847	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:0060415	chromosome 2p16.1-p15 deletion syndrome		ISO	RGD:1318847	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Chromosome 2p16.1-p15 deletion syndrome	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:10534	stomach cancer		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:1115	sarcoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:1324	lung cancer		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:1909	melanoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:3275	thymoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:4362	cervical cancer		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:5041	esophageal cancer		ISO	RGD:1318847	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:6039	uveal melanoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565181	Usp34	ubiquitin specific peptidase 34	gene	DOID:9256	colorectal cancer		ISO	RGD:1318847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050651	atrioventricular septal defect		ISS	RGD:1614795	D	RGD:13592920	20180518	MouseDO		OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:31456290|PMID:33584783|PMID:34008892|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34582790|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34426522|PMID:34573333|PMID:34582790|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31456290|PMID:31964843|PMID:32483926|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34426522|PMID:34573333|PMID:34582790|PMID:37431782|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:17397051|PMID:17576681|PMID:18327255|PMID:19466712|PMID:19763152|PMID:20307669|PMID:22353939|PMID:22406018|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30902645|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:35360848|PMID:35587316|PMID:36788019|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:19466712|PMID:19763152|PMID:20307669|PMID:22353939|PMID:22406018|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30902645|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:35360848|PMID:35587316|PMID:37131188|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:17397051|PMID:17576681|PMID:19466712|PMID:19763152|PMID:20307669|PMID:22353939|PMID:22406018|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30902645|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:35360848|PMID:35587316|PMID:37131188|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:19466712|PMID:19763152|PMID:20307669|PMID:22353939|PMID:22406018|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30902645|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:35360848|PMID:35587316|PMID:37131188|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meckel Gruber syndrome | ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16199547|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19466712|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28771248|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:35587316|PMID:36788019|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Meckel Gruber syndrome | ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18414213|PMID:19466712|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34011629|PMID:35587316|PMID:37131188|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050778	Meckel syndrome		ISS	RGD:1614795	D	RGD:13592920	20180518	MouseDO			
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0050952	spastic ataxia		ISO	RGD:1352123	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0060340	ciliopathy		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ciliopathy	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:11063991|PMID:17397051	20160920	RGD		DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human)	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:11535074|PMID:17935508	20160920	RGD		DNA:deletion:intron:IVS15-7_35del (human)	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:11535078|PMID:23351400	20160920	RGD		DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human)	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:7240710	20130221	OMIM			
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:35587316|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34426522|PMID:34573333|PMID:34582790|PMID:35587316|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL SYNDROME, TYPE 1 | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome type 1 | ClinVar Annotator: match by term: Meckel syndrome type1 | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19466712|PMID:19776033|PMID:21228398|PMID:23169490|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:35587316|PMID:36460718|PMID:36658419|PMID:36788019|PMID:37131188|PMID:37880672|PMID:38039006|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1614795	D	RGD:11535065|PMID:21045211	20160920	RGD		DNA:deletion	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1614795	D	RGD:11535068|PMID:19776033	20160920	RGD		DNA:splice-site mutation:intron:c.515 + 6T>C (mouse)	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110135	Bardet-Biedl syndrome 13		ISO	RGD:1352123	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110135	Bardet-Biedl syndrome 13		ISO	RGD:1352123	D	RGD:7240710	20171011	OMIM			
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110135	Bardet-Biedl syndrome 13		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 13 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 13	PMID:16199547|PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:19466712|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:28981474|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34011629|PMID:35587316|PMID:37131188|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110329	Leber congenital amaurosis 6		ISO	RGD:1352123	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 6	PMID:17397051|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31191208|PMID:35587316|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:17185389|PMID:17397051|PMID:19466712|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26490104|PMID:28492532|PMID:34008892
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:22406018|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:35360848|PMID:35587316|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:22406018|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34426522|PMID:34573333|PMID:34582790|PMID:35360848|PMID:35587316|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:31456290|PMID:31964843|PMID:32483926|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34426522|PMID:34573333|PMID:34582790|PMID:37431782|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:19466712|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34011629|PMID:35587316|PMID:37131188|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110997	Joubert Syndrome 28		ISO	RGD:1352123	D	RGD:7240710	20190315	OMIM			
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0110997	Joubert Syndrome 28		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 28 | ClinVar Annotator: match by term: Joubert syndrome 28	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:19466712|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34011629|PMID:35587316|PMID:37131188|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:10907	microcephaly		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:24608809|PMID:25741868|PMID:27377014|PMID:28492532|PMID:30076350|PMID:33584783|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:1148	polydactyly		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:37131188
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:1283	enterocele		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1352123	D	RGD:11070512|PMID:18327255	20160920	RGD		DNA:missense mutations: :p.D286G, p.I450T, p.C492W (human)	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1352123	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18327255
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:2846	bruxism		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:3086	gingival overgrowth		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:28492532
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:535	sleep disorder		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:5723	optic atrophy		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:6419	tetralogy of Fallot		ISS	RGD:1614795	D	RGD:13592920	20180518	MouseDO		OMIM:187500	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:37131188
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:23105016|PMID:25741868|PMID:28492532|PMID:3442652
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intracranial hemorrhage	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:18327255|PMID:25741868|PMID:28125082|PMID:28492532|PMID:28497568|PMID:34008892|PMID:36788019
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9006617	Fatigue		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28492532|PMID:37131188|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9008268	Enuresis		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Enuresis	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9009047	Laryngeal Cleft		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Laryngeal cleft	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:28492532
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Rotary nystagmus	PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:37131188
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:9840	esotropia		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565186	Mks1	MKS transition zone complex subunit 1	gene	DOID:988	mitral valve prolapse		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
1565187	Kif9	kinesin family member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565187	Kif9	kinesin family member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1313687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565187	Kif9	kinesin family member 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565187	Kif9	kinesin family member 9	gene	DOID:1115	sarcoma		ISO	RGD:1313687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565187	Kif9	kinesin family member 9	gene	DOID:1324	lung cancer		ISO	RGD:1313687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1565187	Kif9	kinesin family member 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1313687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1565187	Kif9	kinesin family member 9	gene	DOID:4362	cervical cancer		ISO	RGD:1313687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565187	Kif9	kinesin family member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565187	Kif9	kinesin family member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565187	Kif9	kinesin family member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0050152	aspiration pneumonia		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Aspiration pneumonia	PMID:11093277
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0050776	non-syndromic X-linked intellectual disability		ISO	RGD:1351228	D	RGD:11554032|PMID:11940089	20161019	RGD		DNA:missense mutation:cds:p.P312L (human)	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0060254	Robinow syndrome		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Robinow syndrome	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1351228	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0060328	anal fistula		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anal fistula	PMID:11093277
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type		ISO	RGD:1351228	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mental retardation, X-linked syndromic 16	PMID:25741868
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:19261807|PMID:28492532|PMID:8969170
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0111824	Aarskog syndrome		ISO	RGD:1351228	D	RGD:11554173	20200526	CTD		CTD Direct Evidence: marker/mechanism	PMID:7954831|PMID:10930571|PMID:11093277|PMID:14560308|PMID:15327482|PMID:17152066
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:0111824	Aarskog syndrome		ISO	RGD:1351228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AARSKOG-SCOTT SYNDROME | ClinVar Annotator: match by term: Aarskog disease | ClinVar Annotator: match by term: Aarskog syndrome	PMID:10930571|PMID:11093277|PMID:14560308|PMID:15809997|PMID:17152066|PMID:17847065|PMID:20082460|PMID:21739585|PMID:21965325|PMID:23211637|PMID:25046119|PMID:25741868|PMID:26029706|PMID:27959697|PMID:28492532|PMID:29276006
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351228	D	RGD:11554027|PMID:19141649	20161019	RGD		protein:increased expression:prostate gland (human)	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:10376	amblyopia		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:21739585|PMID:23211637|PMID:25046119|PMID:25741868|PMID:26029706|PMID:28492532
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:10629	microphthalmia		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:11093277
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:11093277
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1351228	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15809997
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:11111	hydronephrosis		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:14560308|PMID:17847065|PMID:21965325
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:11193	syndactyly		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:25741868
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1351228	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:14560308|PMID:17847065|PMID:21965325
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:255	hemangioma		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:14560308|PMID:17847065|PMID:19261807|PMID:21965325|PMID:28492532|PMID:8969170
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:2725	capillary hemangioma		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	PMID:25741868
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1351228	D	RGD:11554027|PMID:19141649	20161019	RGD		protein:increased expression:breast (human)	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11093277|PMID:14560308|PMID:17576681|PMID:17847065|PMID:19261807|PMID:19344873|PMID:20082460|PMID:21739585|PMID:21965325|PMID:23211637|PMID:23375260|PMID:24033266|PMID:25046119|PMID:25741868|PMID:26029706|PMID:27535533|PMID:27959697|PMID:28492532|PMID:8969170|PMID:9536098
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:6683	X-linked Aarskog syndrome		ISO	RGD:1351228	D	RGD:11554024|PMID:7954831	20161019	RGD		DNA:insertion:cds:c.2121_2122insG (human)	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:6683	X-linked Aarskog syndrome		ISO	RGD:1351228	D	RGD:11554029|PMID:20082460	20161019	RGD		DNA:mutations:multiple (human)	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:6683	X-linked Aarskog syndrome		ISO	RGD:1351228	D	RGD:11554030|PMID:23211637	20161019	RGD		DNA:nonsense mutation:cds:p.W447X (human)	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:6683	X-linked Aarskog syndrome		ISO	RGD:1351228	D	RGD:11554031|PMID:16353258	20161019	RGD		DNA:deletion:cds:c.2189delA (human)	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:6683	X-linked Aarskog syndrome		ISO	RGD:1351228	D	RGD:7240710	20130221	OMIM			
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:6683	X-linked Aarskog syndrome		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: FGD1-related condition	PMID:000740980|PMID:11940089|PMID:21739585|PMID:23211637|PMID:25046119|PMID:25741868|PMID:26029706|PMID:26467025|PMID:28492532|PMID:7954831
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1351228	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:11093277
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:8927	learning disability		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9000067	Congenital Foot Deformities		ISO	RGD:1351228	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11940089
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9000590	Dyspnea		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:19261807|PMID:28492532|PMID:8969170
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:11093277
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:19261807|PMID:28492532|PMID:8969170
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9001581	Constipation		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:19261807|PMID:28492532|PMID:8969170
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9001611	Urogenital Abnormalities		ISO	RGD:1351228	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:7954831|PMID:10930571|PMID:11093277
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:11093277|PMID:19261807|PMID:28492532|PMID:8969170
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9002554	Tachycardia		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:11093277
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25741868
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:14560308|PMID:17847065|PMID:19261807|PMID:21965325|PMID:25741868|PMID:28492532|PMID:8969170
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:11093277
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9004992	Apnea		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:11093277
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1351228	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11940089
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9006257	Growth Disorders		ISO	RGD:1351228	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:7954831|PMID:10930571|PMID:11093277|PMID:11940089
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1351228	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11093277
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:21739585|PMID:23211637|PMID:25046119|PMID:26029706|PMID:28492532
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9007152	Talipes		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes	PMID:25741868
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1351228	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:19261807|PMID:28492532|PMID:8969170
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9008617	Lethargy		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:11093277
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1351228	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:7954831
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9008811	Tachypnea		ISO	RGD:1351228	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:11093277
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565188	Fgd1	FYVE, RhoGEF and PH domain containing 1	gene	DOID:9970	obesity		ISO	RGD:1351228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1565192	Smim20	small integral membrane protein 20	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:3418804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565192	Smim20	small integral membrane protein 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3418804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565192	Smim20	small integral membrane protein 20	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:3418804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565192	Smim20	small integral membrane protein 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:3418804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565192	Smim20	small integral membrane protein 20	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3418804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565194	Cntnap5b	contactin associated protein family member 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565194	Cntnap5b	contactin associated protein family member 5B	gene	DOID:10534	stomach cancer		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1565194	Cntnap5b	contactin associated protein family member 5B	gene	DOID:1324	lung cancer		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565194	Cntnap5b	contactin associated protein family member 5B	gene	DOID:1909	melanoma		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565194	Cntnap5b	contactin associated protein family member 5B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565194	Cntnap5b	contactin associated protein family member 5B	gene	DOID:3275	thymoma		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565194	Cntnap5b	contactin associated protein family member 5B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565194	Cntnap5b	contactin associated protein family member 5B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565197	Ntn5	netrin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565197	Ntn5	netrin 5	gene	DOID:1909	melanoma		ISO	RGD:1606977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565197	Ntn5	netrin 5	gene	DOID:3275	thymoma		ISO	RGD:1606977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565206	Tmco5a	transmembrane and coiled-coil domains 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565206	Tmco5a	transmembrane and coiled-coil domains 5A	gene	DOID:10283	prostate cancer		ISO	RGD:1606151	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1565206	Tmco5a	transmembrane and coiled-coil domains 5A	gene	DOID:10283	prostate cancer		ISO	RGD:1606151	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1565210	Tmem238	transmembrane protein 238	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:5488447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565211	Trmt13	tRNA methyltransferase 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565211	Trmt13	tRNA methyltransferase 13	gene	DOID:4362	cervical cancer		ISO	RGD:1604003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565211	Trmt13	tRNA methyltransferase 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1604003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565211	Trmt13	tRNA methyltransferase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565211	Trmt13	tRNA methyltransferase 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565212	C15h8orf74	similar to human chromosome 8 open reading frame 74	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565212	C15h8orf74	similar to human chromosome 8 open reading frame 74	gene	DOID:10534	stomach cancer		ISO	RGD:1606427	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565212	C15h8orf74	similar to human chromosome 8 open reading frame 74	gene	DOID:4362	cervical cancer		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565212	C15h8orf74	similar to human chromosome 8 open reading frame 74	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565212	C15h8orf74	similar to human chromosome 8 open reading frame 74	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565212	C15h8orf74	similar to human chromosome 8 open reading frame 74	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565213	Catsper4	cation channel, sperm associated 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565213	Catsper4	cation channel, sperm associated 4	gene	DOID:1115	sarcoma		ISO	RGD:1350186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565213	Catsper4	cation channel, sperm associated 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565213	Catsper4	cation channel, sperm associated 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565213	Catsper4	cation channel, sperm associated 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565213	Catsper4	cation channel, sperm associated 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1350186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1565216	Adgrf4	adhesion G protein-coupled receptor F4	gene	DOID:4362	cervical cancer		ISO	RGD:1315496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565216	Adgrf4	adhesion G protein-coupled receptor F4	gene	DOID:5419	schizophrenia		ISO	RGD:1315496	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1565216	Adgrf4	adhesion G protein-coupled receptor F4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565217	Ccno	cyclin O	gene	DOID:0110600	primary ciliary dyskinesia 29		ISO	RGD:1346890	D	RGD:7240710	20171011	OMIM			
1565217	Ccno	cyclin O	gene	DOID:0110600	primary ciliary dyskinesia 29		ISO	RGD:1346890	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: CCNO-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 29	PMID:24747639|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31879361|PMID:31980526|PMID:32367404|PMID:32622824|PMID:331765523
1565217	Ccno	cyclin O	gene	DOID:0110600	primary ciliary dyskinesia 29		ISO	RGD:1346890	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: CCNO-related condition | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 29 | ClinVar Annotator: match by term: Primary ciliary dyskinesia 29	PMID:24747639|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30067075|PMID:31879361|PMID:31980526|PMID:32367404|PMID:32622824|PMID:331765523
1565217	Ccno	cyclin O	gene	DOID:1324	lung cancer		ISO	RGD:1346890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
1565217	Ccno	cyclin O	gene	DOID:2320	obstructive lung disease		ISO	RGD:1346890	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24747639
1565217	Ccno	cyclin O	gene	DOID:3275	thymoma		ISO	RGD:1346890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565217	Ccno	cyclin O	gene	DOID:4362	cervical cancer		ISO	RGD:1346890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565217	Ccno	cyclin O	gene	DOID:630	genetic disease		ISO	RGD:1346890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1565217	Ccno	cyclin O	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1346890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:24747639|PMID:26139845|PMID:28492532
1565217	Ccno	cyclin O	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1346890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary Ciliary Dyskinesia | ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:24747639|PMID:25741868|PMID:26139845|PMID:26777464|PMID:28492532|PMID:30067075|PMID:31650533|PMID:32367404|PMID:9536098
1565218	Klhl3	kelch-like family member 3	gene	DOID:0060058	lymphoma		ISO	RGD:1346820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565218	Klhl3	kelch-like family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1346820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565218	Klhl3	kelch-like family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1346820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565218	Klhl3	kelch-like family member 3	gene	DOID:1909	melanoma		ISO	RGD:1346820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565218	Klhl3	kelch-like family member 3	gene	DOID:1969	cerebral palsy		ISO	RGD:1346820	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
1565218	Klhl3	kelch-like family member 3	gene	DOID:3275	thymoma		ISO	RGD:1346820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565218	Klhl3	kelch-like family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1346820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565218	Klhl3	kelch-like family member 3	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:1346820	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22406640
1565218	Klhl3	kelch-like family member 3	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:1346820	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pseudohypoaldosteronism, type 2	PMID:22266938|PMID:22406640|PMID:23387299|PMID:23665031|PMID:25741868|PMID:25925082|PMID:28222034|PMID:28492532|PMID:28511177|PMID:30931564|PMID:31328266|PMID:32774943
1565218	Klhl3	kelch-like family member 3	gene	DOID:4479	pseudohypoaldosteronism		ISS	RGD:1607697	D	RGD:13592920	20230718	MouseDO			
1565218	Klhl3	kelch-like family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565218	Klhl3	kelch-like family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565218	Klhl3	kelch-like family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565218	Klhl3	kelch-like family member 3	gene	DOID:630	genetic disease		ISO	RGD:1346820	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24641320|PMID:25741868|PMID:28492532|PMID:30586318|PMID:34622103
1565218	Klhl3	kelch-like family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565218	Klhl3	kelch-like family member 3	gene	DOID:9001548	Pseudohypoaldosteronism, Type IID		ISO	RGD:1346820	D	RGD:7240710	20140911	OMIM			
1565218	Klhl3	kelch-like family member 3	gene	DOID:9001548	Pseudohypoaldosteronism, Type IID		ISO	RGD:1346820	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FAMILIAL HYPERKALEMIC HYPERTENSION | ClinVar Annotator: match by term: KLHL3-related condition | ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2D	PMID:17576681|PMID:22266938|PMID:22406640|PMID:23387299|PMID:24033266|PMID:25741868|PMID:25925082|PMID:28222034|PMID:28492532|PMID:31328266|PMID:31672324|PMID:32774943|PMID:34622103|PMID:9536098
1565218	Klhl3	kelch-like family member 3	gene	DOID:9002890	Pseudohypoaldosteronism, Type IIA		ISO	RGD:1346820	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome	PMID:22266938|PMID:22406640|PMID:25741868|PMID:25925082|PMID:28222034|PMID:28492532|PMID:31328266|PMID:32774943
1565218	Klhl3	kelch-like family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565218	Klhl3	kelch-like family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565220	Gfral	GDNF family receptor alpha like	gene	DOID:0060058	lymphoma		ISO	RGD:1604920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565220	Gfral	GDNF family receptor alpha like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565220	Gfral	GDNF family receptor alpha like	gene	DOID:5041	esophageal cancer		ISO	RGD:1604920	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565222	C15h14orf93	similar to human chromosome 14 open reading frame 93	gene	DOID:4362	cervical cancer		ISO	RGD:1348927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565222	C15h14orf93	similar to human chromosome 14 open reading frame 93	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565222	C15h14orf93	similar to human chromosome 14 open reading frame 93	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565222	C15h14orf93	similar to human chromosome 14 open reading frame 93	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565234	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565234	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:3275	thymoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565234	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565234	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565234	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565234	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565234	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565234	Gabpb2	GA binding protein transcription factor subunit beta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565236	Pax5	paired box 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565236	Pax5	paired box 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352156	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1565236	Pax5	paired box 5	gene	DOID:0060058	lymphoma		ISO	RGD:1352156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565236	Pax5	paired box 5	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1352156	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:24013638|PMID:30643249
1565236	Pax5	paired box 5	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1352156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:35094443
1565236	Pax5	paired box 5	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1352156	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
1565236	Pax5	paired box 5	gene	DOID:10534	stomach cancer		ISO	RGD:1352156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565236	Pax5	paired box 5	gene	DOID:1059	intellectual disability		ISO	RGD:1352156	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1565236	Pax5	paired box 5	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1352156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:35094443
1565236	Pax5	paired box 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1352156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1565236	Pax5	paired box 5	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:1352156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
1565236	Pax5	paired box 5	gene	DOID:4362	cervical cancer		ISO	RGD:1352156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565236	Pax5	paired box 5	gene	DOID:630	genetic disease		ISO	RGD:1352156	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1565236	Pax5	paired box 5	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1565236	Pax5	paired box 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565236	Pax5	paired box 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352156	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1565236	Pax5	paired box 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352156	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	
1565236	Pax5	paired box 5	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1352156	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Speech delay	
1565236	Pax5	paired box 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565236	Pax5	paired box 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352156	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1565236	Pax5	paired box 5	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1352156	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1565236	Pax5	paired box 5	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1352156	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:26214592
1565236	Pax5	paired box 5	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1352156	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3 | ClinVar Annotator: match by term: PAX5-related condition	PMID:25741868|PMID:27993330|PMID:28492532
1565236	Pax5	paired box 5	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:1352156	D	RGD:7240710	20200325	OMIM			
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1353408	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868|PMID:28492532
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:0090076	hypogonadotropic hypogonadism 18 with or without anosmia		ISO	RGD:1353408	D	RGD:7240710	20140911	OMIM			
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:0090076	hypogonadotropic hypogonadism 18 with or without anosmia		ISO	RGD:1353408	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with or without anosmia | ClinVar Annotator: match by term: IL17RD-related condition	PMID:25741868|PMID:28492532|PMID:36259570
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:10534	stomach cancer		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:1115	sarcoma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868|PMID:28492532
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:1924	hypogonadism		ISO	RGD:1353408	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:3070	high grade glioma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:4362	cervical cancer		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:5041	esophageal cancer		ISO	RGD:1353408	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:9000998	Brain Injuries		ISO	RGD:1353408	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25636053
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1353408	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16474841
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565237	Il17rd	interleukin 17 receptor D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:12849	autistic disorder		ISO	RGD:1604831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1604831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1604831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:37	skin disease		ISO	RGD:1604831	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604831	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1604831	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565242	Rufy3	RUN and FYVE domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565247	Unkl	unk like zinc finger	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565247	Unkl	unk like zinc finger	gene	DOID:1115	sarcoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565247	Unkl	unk like zinc finger	gene	DOID:1909	melanoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565247	Unkl	unk like zinc finger	gene	DOID:3275	thymoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565247	Unkl	unk like zinc finger	gene	DOID:5041	esophageal cancer		ISO	RGD:1604323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565247	Unkl	unk like zinc finger	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565247	Unkl	unk like zinc finger	gene	DOID:9003566	Mesothelioma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1565247	Unkl	unk like zinc finger	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565247	Unkl	unk like zinc finger	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565249	Cd96	CD96 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565249	Cd96	CD96 molecule	gene	DOID:0060058	lymphoma		ISO	RGD:1343806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565249	Cd96	CD96 molecule	gene	DOID:0111581	C syndrome		ISO	RGD:1343806	D	RGD:7240710	20130221	OMIM			
1565249	Cd96	CD96 molecule	gene	DOID:0111581	C syndrome		ISO	RGD:1343806	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: C SYNDROME | ClinVar Annotator: match by term: C syndrome | ClinVar Annotator: match by term: CD96-related condition	PMID:16199547|PMID:17847009|PMID:25741868|PMID:28492532|PMID:34906502
1565249	Cd96	CD96 molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565249	Cd96	CD96 molecule	gene	DOID:2377	multiple sclerosis		ISO	RGD:1343806	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
1565249	Cd96	CD96 molecule	gene	DOID:2394	ovarian cancer		ISO	RGD:1343806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1565249	Cd96	CD96 molecule	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1565249	Cd96	CD96 molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1343806	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565249	Cd96	CD96 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565249	Cd96	CD96 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565249	Cd96	CD96 molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565253	Glce	glucuronic acid epimerase	gene	DOID:10534	stomach cancer		ISO	RGD:1607059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565253	Glce	glucuronic acid epimerase	gene	DOID:10763	hypertension		ISO	RGD:1607059	D	RGD:401717571|PMID:27699767	20230804	RGD		DNA:SNP: : rs3865014 (human)	
1565253	Glce	glucuronic acid epimerase	gene	DOID:1909	melanoma		ISO	RGD:1607059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565253	Glce	glucuronic acid epimerase	gene	DOID:5041	esophageal cancer		ISO	RGD:1607059	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565253	Glce	glucuronic acid epimerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565253	Glce	glucuronic acid epimerase	gene	DOID:6713	cerebrovascular disease		ISO	RGD:1607059	D	RGD:401717571|PMID:27699767	20230804	RGD		DNA:SNP: : rs3865014 (human)	
1565253	Glce	glucuronic acid epimerase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:0060826	syndromic X-linked intellectual disability Shashi type		ISO	RGD:1349812	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:0060826	syndromic X-linked intellectual disability Shashi type		ISO	RGD:1349812	D	RGD:7240710	20151202	OMIM			
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:0060826	syndromic X-linked intellectual disability Shashi type		ISO	RGD:1349812	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Shashi type	PMID:22832223|PMID:25741868
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:0081123	X-linked mental retardation Gustavson type		ISO	RGD:1349812	D	RGD:11554173	20240305	CTD		CTD Direct Evidence: marker/mechanism	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:0081123	X-linked mental retardation Gustavson type		ISO	RGD:1349812	D	RGD:7240710	20240207	OMIM			
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:1324	lung cancer		ISO	RGD:1349812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:5041	esophageal cancer		ISO	RGD:1349812	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:630	genetic disease		ISO	RGD:1349812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:10053723|PMID:23180094	20150720	RGD			
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565256	Rbmx	RNA binding motif protein, X-linked	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1565257	Ubr3	ubiquitin protein ligase E3 component n-recognin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565257	Ubr3	ubiquitin protein ligase E3 component n-recognin 3	gene	DOID:0060058	lymphoma		ISO	RGD:1346219	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565257	Ubr3	ubiquitin protein ligase E3 component n-recognin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1346219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565257	Ubr3	ubiquitin protein ligase E3 component n-recognin 3	gene	DOID:1115	sarcoma		ISO	RGD:1346219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565257	Ubr3	ubiquitin protein ligase E3 component n-recognin 3	gene	DOID:3275	thymoma		ISO	RGD:1346219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565257	Ubr3	ubiquitin protein ligase E3 component n-recognin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1346219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565257	Ubr3	ubiquitin protein ligase E3 component n-recognin 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346219	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565257	Ubr3	ubiquitin protein ligase E3 component n-recognin 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565257	Ubr3	ubiquitin protein ligase E3 component n-recognin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1346219	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565257	Ubr3	ubiquitin protein ligase E3 component n-recognin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565257	Ubr3	ubiquitin protein ligase E3 component n-recognin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565257	Ubr3	ubiquitin protein ligase E3 component n-recognin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565257	Ubr3	ubiquitin protein ligase E3 component n-recognin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565261	Kndc1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565261	Kndc1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565261	Kndc1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565261	Kndc1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565261	Kndc1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565261	Kndc1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565261	Kndc1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565261	Kndc1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565261	Kndc1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565261	Kndc1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565261	Kndc1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565261	Kndc1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565263	Rab19	RAB19, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565263	Rab19	RAB19, member RAS oncogene family	gene	DOID:11193	syndactyly		ISO	RGD:1604143	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:25741868
1565263	Rab19	RAB19, member RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565263	Rab19	RAB19, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565263	Rab19	RAB19, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565263	Rab19	RAB19, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565267	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565267	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565267	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565267	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:1909	melanoma		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565267	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565267	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:2394	ovarian cancer		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1565267	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:3275	thymoma		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565267	Zcchc17	zinc finger CCHC-type containing 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565271	Galntl5	polypeptide N-acetylgalactosaminyltransferase-like 5	gene	DOID:1115	sarcoma		ISO	RGD:1351459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565271	Galntl5	polypeptide N-acetylgalactosaminyltransferase-like 5	gene	DOID:12336	male infertility		ISO	RGD:1351459	D	RGD:8554872	20210209	ClinVar		ClinVar Annotator: match by term: Male infertility	
1565271	Galntl5	polypeptide N-acetylgalactosaminyltransferase-like 5	gene	DOID:37	skin disease		ISO	RGD:1351459	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28720099
1565277	Iqcf3	IQ motif containing F3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565281	Sez6l2	seizure related 6 homolog like 2	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1606022	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
1565281	Sez6l2	seizure related 6 homolog like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565281	Sez6l2	seizure related 6 homolog like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565281	Sez6l2	seizure related 6 homolog like 2	gene	DOID:12849	autistic disorder		ISO	RGD:1606022	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19242545
1565281	Sez6l2	seizure related 6 homolog like 2	gene	DOID:1324	lung cancer		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565281	Sez6l2	seizure related 6 homolog like 2	gene	DOID:1909	melanoma		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565281	Sez6l2	seizure related 6 homolog like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565281	Sez6l2	seizure related 6 homolog like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565281	Sez6l2	seizure related 6 homolog like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606022	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565281	Sez6l2	seizure related 6 homolog like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565281	Sez6l2	seizure related 6 homolog like 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1565281	Sez6l2	seizure related 6 homolog like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565281	Sez6l2	seizure related 6 homolog like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565282	Spata17	spermatogenesis associated 17	gene	DOID:10534	stomach cancer		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565282	Spata17	spermatogenesis associated 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565282	Spata17	spermatogenesis associated 17	gene	DOID:1324	lung cancer		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565282	Spata17	spermatogenesis associated 17	gene	DOID:1909	melanoma		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565282	Spata17	spermatogenesis associated 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565282	Spata17	spermatogenesis associated 17	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565282	Spata17	spermatogenesis associated 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565282	Spata17	spermatogenesis associated 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604999	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565282	Spata17	spermatogenesis associated 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565282	Spata17	spermatogenesis associated 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565289	Apoo	apolipoprotein O	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565289	Apoo	apolipoprotein O	gene	DOID:1324	lung cancer		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565289	Apoo	apolipoprotein O	gene	DOID:1909	melanoma		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565289	Apoo	apolipoprotein O	gene	DOID:3275	thymoma		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565289	Apoo	apolipoprotein O	gene	DOID:3650	lactic acidosis		ISO	RGD:1603962	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	
1565289	Apoo	apolipoprotein O	gene	DOID:4362	cervical cancer		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565289	Apoo	apolipoprotein O	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565289	Apoo	apolipoprotein O	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565289	Apoo	apolipoprotein O	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:0061093	immunodeficiency 128		ISO	RGD:1345265	D	RGD:7240710	20241030	OMIM			
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:0061093	immunodeficiency 128		ISO	RGD:1345265	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 128	
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:0111962	combined immunodeficiency		ISS	RGD:1617573	D	RGD:13592920	20240328	MouseDO			
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:1324	lung cancer		ISO	RGD:1345265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1345265	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:26463840
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:1909	melanoma		ISO	RGD:1345265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:2344	polyclonal hypergammaglobulinemia		ISS	RGD:1617573	D	RGD:13592920	20240328	MouseDO			
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345265	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565292	Copg1	coat protein complex I subunit gamma 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565302	Tmem121b	transmembrane protein 121B	gene	DOID:0080600	COVID-19		ISO	RGD:1349802	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1565302	Tmem121b	transmembrane protein 121B	gene	DOID:3275	thymoma		ISO	RGD:1349802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565302	Tmem121b	transmembrane protein 121B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565309	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565309	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:0060058	lymphoma		ISO	RGD:1604494	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565309	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:10534	stomach cancer		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565309	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:1115	sarcoma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565309	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:1324	lung cancer		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565309	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:3070	high grade glioma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565309	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:3275	thymoma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565309	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565309	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565309	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565309	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565309	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565309	Catspere	catsper channel auxiliary subunit epsilon	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604494	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605582	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:10534	stomach cancer		ISO	RGD:1605582	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:1115	sarcoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:11383	cryptorchidism		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:1324	lung cancer		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:1909	melanoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:3275	thymoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:4362	cervical cancer		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:5041	esophageal cancer		ISO	RGD:1605582	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:630	genetic disease		ISO	RGD:1605582	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:29808498
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:9002395	Hypothermia		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothermia	PMID:25741868
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:9002752	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES		ISO	RGD:1605582	D	RGD:7240710	20210825	OMIM			
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:9002752	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES		ISO	RGD:1605582	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: EL-HATTAB-SCHMIDTS SYNDROME | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | ClinVar Annotator: match by term: PPP1R21-related condition	PMID:25741868|PMID:28492532|PMID:29808498|PMID:30520571
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565310	Ppp1r21	protein phosphatase 1, regulatory subunit 21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:0050591	tooth agenesis		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar Annotator: match by term: Dysmetria	PMID:22036171|PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:0060230	basal ganglia calcification		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal ganglia calcification	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:0060794	hypomyelinating leukodystrophy 7		ISO	RGD:1351468	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:0060794	hypomyelinating leukodystrophy 7		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy	PMID:16199547|PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:0060797	hypomyelinating leukodystrophy 8		ISO	RGD:1351468	D	RGD:7240710	20140911	OMIM			
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:0060797	hypomyelinating leukodystrophy 8		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	PMID:16199547|PMID:22036171|PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:26478204|PMID:27029625|PMID:27512013|PMID:28492532|PMID:28589944|PMID:29141312|PMID:31221184|PMID:31577365|PMID:31969655|PMID:32180488|PMID:32319736|PMID:32371413|PMID:33417887|PMID:34198905|PMID:35253369|PMID:35434302|PMID:36451185
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:16199547|PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27029625|PMID:27512013|PMID:28492532|PMID:28589944|PMID:31969655|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:0080010	bone structure disease		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of bone mineral density	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia | ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism	PMID:16199547|PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:10376	amblyopia		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:22036171|PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:25741868
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1351468	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:10579	leukodystrophy		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: POLR-related leukodystrophy	PMID:22036171|PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27029625|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32180488|PMID:32319736|PMID:32371413|PMID:33417887|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:1059	intellectual disability		ISO	RGD:1351468	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:1059	intellectual disability		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound	PMID:25741868
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:10907	microcephaly		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:10965	spastic diplegia		ISO	RGD:1351468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:25339210|PMID:25741868
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:1115	sarcoma		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:11830	myopia		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:12849	autistic disorder		ISO	RGD:1351468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:1324	lung cancer		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:1389	polyneuropathy		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:13938	amenorrhea		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:25339210|PMID:28492532|PMID:32870266
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:1826	epilepsy		ISO	RGD:1351468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:1909	melanoma		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:1924	hypogonadism		ISO	RGD:1351468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:25339210|PMID:25741868|PMID:28492532|PMID:31969655
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:3070	high grade glioma		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:3275	thymoma		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:5041	esophageal cancer		ISO	RGD:1351468	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:540	strabismus		ISO	RGD:1351468	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:543	dystonia		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb dystonia	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:630	genetic disease		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25339210|PMID:25741868|PMID:28492532|PMID:31577365|PMID:32342562|PMID:34440436
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1351468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25339210|PMID:25741868|PMID:28492532|PMID:31969655
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9000495	Tremor		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9000624	Charcot-Marie-Tooth Disease Type 1I		ISO	RGD:1351468	D	RGD:7240710	20220223	OMIM			
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9000624	Charcot-Marie-Tooth Disease Type 1I		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1I | ClinVar Annotator: match by term: POLR3B-related condition | ClinVar Annotator: match by term: POLR3B-related disorders	PMID:16199547|PMID:22036171|PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27029625|PMID:27512013|PMID:28492532|PMID:28589944|PMID:31969655|PMID:32180488|PMID:32319736|PMID:32371413|PMID:33417887|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9001722	Dysarthria		ISO	RGD:1351468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25339210|PMID:25741868|PMID:28492532|PMID:31969655
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9002189	High Myopia		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:22036171|PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9004866	Ataxia		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:31969655|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9004866	Ataxia		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Truncal ataxia	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:31969655|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9005077	Joint Instability		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:22036171|PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1351468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1351468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25339210|PMID:25741868|PMID:28492532|PMID:31969655
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:25339210|PMID:25741868|PMID:28492532
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1351468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25339210|PMID:25741868|PMID:28492532|PMID:31969655
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9007559	Thyroglossal Cyst		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroglossal cyst	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9007661	Dwarfism		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22036171|PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:31969655|PMID:32319736|PMID:35253369
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:936	brain disease		ISO	RGD:1351468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
1565311	Polr3b	RNA polymerase III subunit B	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1351468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:22036172|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:35253369
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0050781	Ogden syndrome		ISO	RGD:1349422	D	RGD:7240710	20140911	OMIM			
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0050781	Ogden syndrome		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: N-terminal acetyltransferase deficiency | ClinVar Annotator: match by term: OGDEN SYNDROME | ClinVar Annotator: match by term: Ogden syndrome	PMID:18414213|PMID:24431331|PMID:25099252|PMID:25741868|PMID:26522270|PMID:26757139|PMID:27094817|PMID:28492532|PMID:29095811|PMID:29957440|PMID:31127942|PMID:31785789|PMID:35039925|PMID:36810866|PMID:37130971|PMID:39012200|PMID:39825153
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0060165	Kleine-Levin syndrome		ISO	RGD:1349422	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Kleine-Levin syndrome	
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1349422	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant	
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0111799	syndromic microphthalmia 1		ISO	RGD:1349422	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0111799	syndromic microphthalmia 1		ISO	RGD:1349422	D	RGD:7240710	20140205	OMIM			
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:0111799	syndromic microphthalmia 1		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANOP1 | ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 1 | ClinVar Annotator: match by term: Microphthalmia, syndromic 1 | ClinVar Annotator: match by term: NAA10-related condition	PMID:25099252|PMID:25741868|PMID:27094817|PMID:28492532|PMID:29957440|PMID:31127942|PMID:37130971|PMID:39012200
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:24033266|PMID:25099252|PMID:25741868|PMID:27094817|PMID:28492532|PMID:29957440|PMID:31088393|PMID:31174490|PMID:37130971
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1349422	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:24033266|PMID:24431331|PMID:25099252|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:29957440|PMID:31088393|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:10608	celiac disease		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:25099252|PMID:25741868|PMID:28492532|PMID:29957440|PMID:37130971
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:10629	microphthalmia		ISO	RGD:1349422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:10907	microcephaly		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25099252|PMID:25741868|PMID:28492532|PMID:29957440|PMID:35039925|PMID:37130971
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:27094817|PMID:28492532|PMID:31088393|PMID:31174490
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:11782	astigmatism		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:28492532|PMID:36810866
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:11830	myopia		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532|PMID:36810866
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532|PMID:36810866
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:35039925
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:2843	long QT syndrome		ISO	RGD:1349422	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Prolonged QT interval	PMID:24431331|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:35039925|PMID:37130971|PMID:37441566|PMID:38335407|PMID:7094817
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1349422	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:4448	macular degeneration		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:25741868|PMID:28492532|PMID:36810866
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:535	sleep disorder		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disorder	PMID:25741868|PMID:27094817|PMID:28492532|PMID:31088393|PMID:31174490
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:540	strabismus		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:27094817|PMID:28492532|PMID:31088393|PMID:31174490
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:25741868
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:630	genetic disease		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31127942|PMID:36810866|PMID:37130971|PMID:39012200
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25099252|PMID:25741868|PMID:28492532|PMID:29957440|PMID:37130971
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9004507	Hirsutism		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9005077	Joint Instability		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:35039925
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25099252|PMID:25741868|PMID:27094817|PMID:28492532|PMID:29957440
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25099252|PMID:25741868|PMID:28492532|PMID:29957440|PMID:37130971
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1349422	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532|PMID:36810866
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9007402	Gliosis		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:25099252|PMID:25741868|PMID:28492532|PMID:29957440|PMID:37130971
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9007573	Flatfoot		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349422	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:35039925|PMID:36810866
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565315	Naa10	N(alpha)-acetyltransferase 10, NatA catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565316	Spatc1	spermatogenesis and centriole associated 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565316	Spatc1	spermatogenesis and centriole associated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565316	Spatc1	spermatogenesis and centriole associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565318	Slc35b2	solute carrier family 35 member B2	gene	DOID:0070403	hypomyelinating leukodystrophy 26		ISO	RGD:1349281	D	RGD:7240710	20230505	OMIM			
1565318	Slc35b2	solute carrier family 35 member B2	gene	DOID:0070403	hypomyelinating leukodystrophy 26		ISO	RGD:1349281	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia	PMID:25741868
1565318	Slc35b2	solute carrier family 35 member B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565318	Slc35b2	solute carrier family 35 member B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565318	Slc35b2	solute carrier family 35 member B2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565325	Chmp6	charged multivesicular body protein 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565325	Chmp6	charged multivesicular body protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565325	Chmp6	charged multivesicular body protein 6	gene	DOID:1324	lung cancer		ISO	RGD:1606234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565325	Chmp6	charged multivesicular body protein 6	gene	DOID:3275	thymoma		ISO	RGD:1606234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565325	Chmp6	charged multivesicular body protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1606234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565325	Chmp6	charged multivesicular body protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565325	Chmp6	charged multivesicular body protein 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565341	Tsnaxip1	translin-associated factor X interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565341	Tsnaxip1	translin-associated factor X interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565341	Tsnaxip1	translin-associated factor X interacting protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1348366	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1565341	Tsnaxip1	translin-associated factor X interacting protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1348366	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1565341	Tsnaxip1	translin-associated factor X interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565341	Tsnaxip1	translin-associated factor X interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565341	Tsnaxip1	translin-associated factor X interacting protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565341	Tsnaxip1	translin-associated factor X interacting protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565341	Tsnaxip1	translin-associated factor X interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565341	Tsnaxip1	translin-associated factor X interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565341	Tsnaxip1	translin-associated factor X interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565342	Ly6e	lymphocyte antigen 6 family member E	gene	DOID:10534	stomach cancer		ISO	RGD:1351321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565342	Ly6e	lymphocyte antigen 6 family member E	gene	DOID:1793	pancreatic cancer		ISO	RGD:1351321	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17446842
1565342	Ly6e	lymphocyte antigen 6 family member E	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565342	Ly6e	lymphocyte antigen 6 family member E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565342	Ly6e	lymphocyte antigen 6 family member E	gene	DOID:9001488	Human Influenza		ISO	RGD:1351321	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1565342	Ly6e	lymphocyte antigen 6 family member E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565342	Ly6e	lymphocyte antigen 6 family member E	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565344	Zmat1	zinc finger, matrin-type 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565344	Zmat1	zinc finger, matrin-type 1	gene	DOID:0060058	lymphoma		ISO	RGD:1345896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565344	Zmat1	zinc finger, matrin-type 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565344	Zmat1	zinc finger, matrin-type 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565344	Zmat1	zinc finger, matrin-type 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565344	Zmat1	zinc finger, matrin-type 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565344	Zmat1	zinc finger, matrin-type 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565348	Tgm6	transglutaminase 6	gene	DOID:0050982	spinocerebellar ataxia 35		ISO	RGD:1349690	D	RGD:7240710	20140903	OMIM			
1565348	Tgm6	transglutaminase 6	gene	DOID:0050982	spinocerebellar ataxia 35		ISO	RGD:1349690	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 35 | ClinVar Annotator: match by term: Spinocerebellar ataxia 35 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 35 | ClinVar Annotator: match by term: TGM6-related condition	PMID:17576681|PMID:21106500|PMID:22162184|PMID:22287014|PMID:22554020|PMID:23206699|PMID:24637876|PMID:24755948|PMID:25133958|PMID:25253745|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28934387|PMID:29590070|PMID:30229425|PMID:30670339|PMID:31920494|PMID:32259886|PMID:32426513|PMID:33160304|PMID:33378849|PMID:33432171|PMID:34008892|PMID:36644153|PMID:37007936|PMID:38255008|PMID:9536098
1565348	Tgm6	transglutaminase 6	gene	DOID:0080855	Parkinsonism		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:22162184|PMID:22287014|PMID:22554020|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28934387|PMID:30229425|PMID:32259886|PMID:33160304|PMID:40786864
1565348	Tgm6	transglutaminase 6	gene	DOID:0080856	vascular Parkinsonism		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular parkinsonism	PMID:22162184|PMID:22287014|PMID:22554020|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28934387|PMID:30229425|PMID:32259886|PMID:33160304|PMID:40786864
1565348	Tgm6	transglutaminase 6	gene	DOID:14330	Parkinson's disease		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease	PMID:22162184|PMID:22287014|PMID:22554020|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28934387|PMID:30229425|PMID:32259886|PMID:33160304|PMID:40786864
1565348	Tgm6	transglutaminase 6	gene	DOID:630	genetic disease		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36644153
1565348	Tgm6	transglutaminase 6	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1349690	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1565348	Tgm6	transglutaminase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565348	Tgm6	transglutaminase 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1565350	Shb	SH2 domain containing adaptor protein B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565350	Shb	SH2 domain containing adaptor protein B	gene	DOID:1324	lung cancer		ISO	RGD:1350494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565350	Shb	SH2 domain containing adaptor protein B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565350	Shb	SH2 domain containing adaptor protein B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565351	Rfxap	regulatory factor X-associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565351	Rfxap	regulatory factor X-associated protein	gene	DOID:0061215	hepatic fibrosis		ISO	RGD:1348538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	PMID:22390233|PMID:25741868|PMID:28492532|PMID:31589614|PMID:9118943
1565351	Rfxap	regulatory factor X-associated protein	gene	DOID:5082	liver cirrhosis		ISO	RGD:1348538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	PMID:22390233|PMID:25741868|PMID:28492532|PMID:31589614|PMID:9118943
1565351	Rfxap	regulatory factor X-associated protein	gene	DOID:5812	MHC class II deficiency		ISO	RGD:1348538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MHC class II deficiency	PMID:12498778|PMID:16199547|PMID:17576681|PMID:22390233|PMID:25741868|PMID:28492532|PMID:31589614|PMID:9118943|PMID:9536098
1565351	Rfxap	regulatory factor X-associated protein	gene	DOID:9006674	MHC CLASS II DEFICIENCY 4		ISO	RGD:1348538	D	RGD:7240710	20240619	OMIM			
1565351	Rfxap	regulatory factor X-associated protein	gene	DOID:9006674	MHC CLASS II DEFICIENCY 4		ISO	RGD:1348538	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group D | ClinVar Annotator: match by term: MHC CLASS II DEFICIENCY 4 | ClinVar Annotator: match by term: MHC class II deficiency 4	PMID:20197681|PMID:22390233|PMID:25741868|PMID:28492532|PMID:31589614|PMID:9118943
1565351	Rfxap	regulatory factor X-associated protein	gene	DOID:9009158	MHC CLASS II DEFICIENCY 1		ISO	RGD:1348538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: MHC class II deficiency 1	PMID:22390233|PMID:25741868|PMID:28492532|PMID:31589614|PMID:9118943
1565353	Pak1ip1	PAK1 interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565353	Pak1ip1	PAK1 interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565353	Pak1ip1	PAK1 interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565353	Pak1ip1	PAK1 interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1353310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565353	Pak1ip1	PAK1 interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1353310	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565353	Pak1ip1	PAK1 interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353310	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565353	Pak1ip1	PAK1 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565353	Pak1ip1	PAK1 interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565353	Pak1ip1	PAK1 interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565353	Pak1ip1	PAK1 interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565360	Hlcs	holocarboxylase synthetase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565360	Hlcs	holocarboxylase synthetase	gene	DOID:0090028	familial isolated deficiency of vitamin E		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E	PMID:25741868
1565360	Hlcs	holocarboxylase synthetase	gene	DOID:3070	high grade glioma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565360	Hlcs	holocarboxylase synthetase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
1565360	Hlcs	holocarboxylase synthetase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:10653324|PMID:11735028|PMID:17576681|PMID:25741868|PMID:27114915|PMID:28492532|PMID:33123633|PMID:9536098
1565360	Hlcs	holocarboxylase synthetase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565360	Hlcs	holocarboxylase synthetase	gene	DOID:630	genetic disease		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
1565360	Hlcs	holocarboxylase synthetase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565360	Hlcs	holocarboxylase synthetase	gene	DOID:859	holocarboxylase synthetase deficiency		ISO	RGD:1320489	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565360	Hlcs	holocarboxylase synthetase	gene	DOID:859	holocarboxylase synthetase deficiency		ISO	RGD:1320489	D	RGD:1302549|PMID:12124727	19990101	RGD		DNA:missense mutations:cds:multiple (human)	
1565360	Hlcs	holocarboxylase synthetase	gene	DOID:859	holocarboxylase synthetase deficiency		ISO	RGD:1320489	D	RGD:7240710	20130221	OMIM			
1565360	Hlcs	holocarboxylase synthetase	gene	DOID:859	holocarboxylase synthetase deficiency		ISO	RGD:1320489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency | ClinVar Annotator: match by term: MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET | ClinVar Annotator: match by term: holocarboxylase synthetase deficiency	PMID:10068510|PMID:10190325|PMID:10590022|PMID:10653324|PMID:11124959|PMID:11185745|PMID:11735028|PMID:12124727|PMID:12633764|PMID:16134170|PMID:16199547|PMID:16231399|PMID:17274881|PMID:17407983|PMID:17576681|PMID:18429047|PMID:18442489|PMID:18974016|PMID:19157941|PMID:19695181|PMID:19806568|PMID:20026029|PMID:20095979|PMID:21615476|PMID:21874615|PMID:21894551|PMID:22027809|PMID:24033266|PMID:24085707|PMID:24099927|PMID:24215330|PMID:24239178|PMID:25087612|PMID:25525159|PMID:25690727|PMID:25741868|PMID:26938784|PMID:27114915|PMID:2760430|PMID:27604308|PMID:28492532|PMID:29701239|PMID:32219826|PMID:32358368|PMID:32727382|PMID:32841162|PMID:33123633|PMID:33870574|PMID:36890565|PMID:38380423|PMID:38550975|PMID:38582244|PMID:39194177|PMID:39634276|PMID:7842009|PMID:8541348|PMID:8817339|PMID:9396568|PMID:9536098|PMID:9630604|PMID:9870216
1565360	Hlcs	holocarboxylase synthetase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1565360	Hlcs	holocarboxylase synthetase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1320489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: hyperammonemia	PMID:25741868|PMID:28492532|PMID:38146699
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:10534	stomach cancer		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:1115	sarcoma		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:1324	lung cancer		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:1909	melanoma		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:303	substance-related disorder		ISO	RGD:1604056	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:3275	thymoma		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:5041	esophageal cancer		ISO	RGD:1604056	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1604056	D	RGD:11554173	20161115	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565362	Patj	PATJ, crumbs cell polarity complex component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0050817	Stargardt disease		ISO	RGD:1352344	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: STGD	PMID:15161866|PMID:15223812|PMID:15657609|PMID:15712225|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25205868|PMID:25474149|PMID:25616768|PMID:25741868|PMID:26106334|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:32869108
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0050817	Stargardt disease		ISO	RGD:1352344	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: STGD	PMID:15161866|PMID:15223812|PMID:15712225|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25474149|PMID:25741868|PMID:26106334|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:32869108
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0050817	Stargardt disease		ISO	RGD:1352344	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease	PMID:15161866|PMID:15223812|PMID:15712225|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25474149|PMID:25741868|PMID:26106334|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:31544997|PMID:32869108|PMID:32913385|PMID:35672425
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0050817	Stargardt disease		ISO	RGD:1352344	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: STGD	PMID:15161866|PMID:15223812|PMID:15657609|PMID:15712225|PMID:16199547|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25326637|PMID:25474149|PMID:25616768|PMID:25741868|PMID:26106334|PMID:26990548|PMID:27535533|PMID:27884173|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:31456290|PMID:31544997|PMID:32531858|PMID:32869108|PMID:32913385|PMID:3442652|PMID:34703197|PMID:35119454|PMID:35672425|PMID:36259723|PMID:37734845
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0050817	Stargardt disease		ISO	RGD:1352344	D	RGD:8554872	20250821	ClinVar		ClinVar Annotator: match by term: STGD	PMID:15161866|PMID:15223812|PMID:15712225|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25326637|PMID:25474149|PMID:25741868|PMID:26106334|PMID:26990548|PMID:27535533|PMID:27884173|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:31456290|PMID:31544997|PMID:32531858|PMID:32869108|PMID:32913385|PMID:3442652|PMID:35119454|PMID:35672425|PMID:36259723|PMID:37734845
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0050817	Stargardt disease		ISO	RGD:1352344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: STGD	PMID:15712225|PMID:25741868|PMID:28492532
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0061241	Stargardt disease 1		ISO	RGD:1352344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt disease 1	PMID:15712225|PMID:25741868|PMID:28492532
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0110008	achromatopsia 3		ISO	RGD:1352344	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0110008	achromatopsia 3		ISO	RGD:1352344	D	RGD:7240710	20130221	OMIM			
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0110008	achromatopsia 3		ISO	RGD:1352344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ACHM3 | ClinVar Annotator: match by term: ACHROMATOPSIA 3 | ClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: CNGB3-related disorder | ClinVar Annotator: match by term: CNGB3-related retinopathy | ClinVar Annotator: match by term: Total colorblindness with myopia | ClinVar Annotator: match by term: achromatopsia 3	PMID:10888875|PMID:10958649|PMID:12357335|PMID:12815043|PMID:15223812|PMID:15459792|PMID:15657609|PMID:15712225|PMID:16199547|PMID:16319819|PMID:17576681|PMID:19592100|PMID:20079539|PMID:20574029|PMID:22975760|PMID:23776498|PMID:25525159|PMID:25741868|PMID:26992781|PMID:27479814|PMID:28341476|PMID:28492532|PMID:28795510|PMID:29145603|PMID:30418171|PMID:30544257|PMID:31544997|PMID:31589614|PMID:31964843|PMID:32531858|PMID:32581362|PMID:33737949|PMID:33749171|PMID:3442652|PMID:34703197|PMID:35119454|PMID:40304364|PMID:9536098
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0110008	achromatopsia 3		ISS	RGD:1557161	D	RGD:13592920	20230718	MouseDO		OMIM:262300	
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352344	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10888875|PMID:10958649|PMID:11124331|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28166811|PMID:28224992|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352344	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352344	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:20301591|PMID:21270786|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:25974703|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352344	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352344	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16199547|PMID:16379026|PMID:17265047|PMID:19592100|PMID:20079539|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25326637|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:26990548|PMID:27535533|PMID:27884173|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28341476|PMID:28418496|PMID:28492532|PMID:28746191|PMID:28795510|PMID:28929832|PMID:29053603|PMID:29769798|PMID:30190494|PMID:30337596|PMID:30418171|PMID:30544257|PMID:30609409|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32531858|PMID:32581362|PMID:32860008|PMID:32869108|PMID:33546218|PMID:33562422|PMID:33737949|PMID:33749171|PMID:33851411|PMID:34426522|PMID:34449556|PMID:34758253|PMID:35119454|PMID:35260635|PMID:35456422|PMID:36259723|PMID:36460718|PMID:36672815|PMID:36909829|PMID:37734845
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15657609|PMID:16199547|PMID:25616768|PMID:25741868|PMID:28492532|PMID:28795510|PMID:34703197
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:1324	lung cancer		ISO	RGD:1352344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:13399	color blindness		ISO	RGD:1352344	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30418171
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:13399	color blindness	susceptibility	ISO	RGD:1352344	D	RGD:1600870|PMID:10958649	20070328	RGD		DNA:mutations	
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:13911	achromatopsia		ISO	RGD:1352344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Achromatopsia | ClinVar Annotator: match by term: achromatopsia	PMID:10888875|PMID:10958649|PMID:12815043|PMID:14757870|PMID:15161866|PMID:15459792|PMID:15657609|PMID:15712225|PMID:1572225|PMID:16199547|PMID:16319819|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:22264887|PMID:22975760|PMID:23805033|PMID:24033266|PMID:24148654|PMID:25205868|PMID:25326637|PMID:25525159|PMID:25558076|PMID:25558176|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:26992781|PMID:27479814|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28704108|PMID:28746191|PMID:28795510|PMID:28929832|PMID:29053603|PMID:29343940|PMID:29618791|PMID:29641573|PMID:29769798|PMID:30190494|PMID:30337596|PMID:30418171|PMID:30544257|PMID:30609409|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31544997|PMID:31589614|PMID:31725702|PMID:31816670|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32340307|PMID:32531858|PMID:32581362|PMID:32641690|PMID:32783370|PMID:32856788|PMID:32860008|PMID:32869108|PMID:32913385|PMID:33546218|PMID:33562422|PMID:33737949|PMID:33749171|PMID:33807868|PMID:33851411|PMID:34426522|PMID:34449556|PMID:34703197|PMID:34758253|PMID:35119454|PMID:35260635|PMID:35456422|PMID:35672425|PMID:36259723|PMID:36460718|PMID:36669873|PMID:36672815|PMID:36833446|PMID:36909829|PMID:36980963|PMID:37158316|PMID:37372476|PMID:37798099|PMID:38219857|PMID:38465142|PMID:40304364|PMID:9536098
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:5679	retinal disease		ISO	RGD:1352344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:630	genetic disease		ISO	RGD:1352344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:8501	fundus dystrophy		ISO	RGD:1352344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10888875|PMID:10958649|PMID:15657609|PMID:15712225|PMID:16199547|PMID:17576681|PMID:25205868|PMID:25525159|PMID:25741868|PMID:27479814|PMID:27874104|PMID:28341476|PMID:28492532|PMID:2879551|PMID:28795510|PMID:29186038|PMID:31544997|PMID:31877759|PMID:31964843|PMID:32531858|PMID:33737949|PMID:34426522|PMID:34703197|PMID:35119454|PMID:36259723|PMID:9536098
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:9003656	Achromatopsia 1		ISO	RGD:1352344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rod monochromatism	PMID:15712225|PMID:25741868|PMID:27479814|PMID:28492532|PMID:35119454|PMID:36259723
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:9003656	Achromatopsia 1		ISO	RGD:1352344	D	RGD:9068446|PMID:17265047	20140819	RGD		DNA:deletion: :c.1148delC (human)	
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:9003656	Achromatopsia 1		ISO	RGD:1557161	D	RGD:9068450|PMID:21576125	20140819	RGD			
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:9003656	Achromatopsia 1	treatment	ISO	RGD:1352344	D	RGD:9068450|PMID:21576125	20140819	RGD			
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565364	Cngb3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1352344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:15657609|PMID:26106334
1565366	Hmx2	H6 family homeobox 2	gene	DOID:9002189	High Myopia		ISO	RGD:1344941	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1565373	Clec2l	C-type lectin domain family 2, member L	gene	DOID:3275	thymoma		ISO	RGD:1351189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565374	Mcemp1	mast cell-expressed membrane protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1604975	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1565374	Mcemp1	mast cell-expressed membrane protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1604975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565374	Mcemp1	mast cell-expressed membrane protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565374	Mcemp1	mast cell-expressed membrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565375	Cbx8	chromobox 8	gene	DOID:0050669	spastic cerebral palsy		ISO	RGD:1351003	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Spastic cerebral palsy	PMID:25741868
1565375	Cbx8	chromobox 8	gene	DOID:10534	stomach cancer		ISO	RGD:1351003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565375	Cbx8	chromobox 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565375	Cbx8	chromobox 8	gene	DOID:3068	glioblastoma		ISO	RGD:1351003	D	RGD:9587354|PMID:24260522	20141014	RGD		mRNA:increased expression:astrocyte:	
1565375	Cbx8	chromobox 8	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1351003	D	RGD:9587436|PMID:25197352	20141014	RGD		mRNA:increased expression:esophagus:	
1565375	Cbx8	chromobox 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565375	Cbx8	chromobox 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1351003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565375	Cbx8	chromobox 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565377	Tex29	testis expressed 29	gene	DOID:10534	stomach cancer		ISO	RGD:1353968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565377	Tex29	testis expressed 29	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565377	Tex29	testis expressed 29	gene	DOID:3275	thymoma		ISO	RGD:1353968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565377	Tex29	testis expressed 29	gene	DOID:5041	esophageal cancer		ISO	RGD:1353968	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565377	Tex29	testis expressed 29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565377	Tex29	testis expressed 29	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565377	Tex29	testis expressed 29	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565378	Spata22	spermatogenesis associated 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565378	Spata22	spermatogenesis associated 22	gene	DOID:0070725	spermatogenic failure 96		ISO	RGD:1606760	D	RGD:7240710	20241113	OMIM			
1565378	Spata22	spermatogenesis associated 22	gene	DOID:0070725	spermatogenic failure 96		ISO	RGD:1606760	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 96	
1565378	Spata22	spermatogenesis associated 22	gene	DOID:3275	thymoma		ISO	RGD:1606760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565378	Spata22	spermatogenesis associated 22	gene	DOID:3613	Canavan disease		ISO	RGD:12740277|RGD:13506493|RGD:13791882|RGD:150412427|RGD:150450601|RGD:151663090|RGD:151663094|RGD:155675852|RGD:21404189|RGD:243056950|RGD:28879417|RGD:28890804|RGD:329354475|RGD:38462446|RGD:401949043|RGD:401949053|RGD:401949074|RGD:401949078|RGD:401949085|RGD:401949088|RGD:401949092|RGD:401949116|RGD:401949122|RGD:401949136|RGD:405869873|RGD:405869878|RGD:405869880|RGD:40813806|RGD:597702944	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Spongy degeneration of central nervous system	PMID:25741868
1565378	Spata22	spermatogenesis associated 22	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565378	Spata22	spermatogenesis associated 22	gene	DOID:9009258	Primary Ovarian Insufficiency 25		ISO	RGD:1606760	D	RGD:7240710	20241113	OMIM			
1565378	Spata22	spermatogenesis associated 22	gene	DOID:9009258	Primary Ovarian Insufficiency 25		ISO	RGD:1606760	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 25 | ClinVar Annotator: match by term: Premature ovarian failure 25	PMID:25741868
1565380	Msantd4	Myb/SANT DNA binding domain containing 4 with coiled-coils	gene	DOID:1115	sarcoma		ISO	RGD:1603604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565380	Msantd4	Myb/SANT DNA binding domain containing 4 with coiled-coils	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565380	Msantd4	Myb/SANT DNA binding domain containing 4 with coiled-coils	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565381	Erp27	endoplasmic reticulum protein 27	gene	DOID:10534	stomach cancer		ISO	RGD:1605301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565381	Erp27	endoplasmic reticulum protein 27	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316733	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316733	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26443449
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316733	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565383	Ppfibp2	PPFIB scaffold protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565384	Igfn1	immunoglobulin-like and fibronectin type III domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565384	Igfn1	immunoglobulin-like and fibronectin type III domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565384	Igfn1	immunoglobulin-like and fibronectin type III domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565384	Igfn1	immunoglobulin-like and fibronectin type III domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565384	Igfn1	immunoglobulin-like and fibronectin type III domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565384	Igfn1	immunoglobulin-like and fibronectin type III domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565384	Igfn1	immunoglobulin-like and fibronectin type III domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565384	Igfn1	immunoglobulin-like and fibronectin type III domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1565384	Igfn1	immunoglobulin-like and fibronectin type III domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565384	Igfn1	immunoglobulin-like and fibronectin type III domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565384	Igfn1	immunoglobulin-like and fibronectin type III domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565384	Igfn1	immunoglobulin-like and fibronectin type III domain containing 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1606752	D	RGD:8554872	20210413	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:28492532
1565385	Cwc22	CWC22 spliceosome associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565385	Cwc22	CWC22 spliceosome associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565385	Cwc22	CWC22 spliceosome associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565385	Cwc22	CWC22 spliceosome associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565385	Cwc22	CWC22 spliceosome associated protein	gene	DOID:1909	melanoma		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565385	Cwc22	CWC22 spliceosome associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1605651	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565385	Cwc22	CWC22 spliceosome associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565385	Cwc22	CWC22 spliceosome associated protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1565385	Cwc22	CWC22 spliceosome associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565385	Cwc22	CWC22 spliceosome associated protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565385	Cwc22	CWC22 spliceosome associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565385	Cwc22	CWC22 spliceosome associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565385	Cwc22	CWC22 spliceosome associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343157	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:0060249	scoliosis		ISO	RGD:1343157	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:16287098|PMID:16959974|PMID:23876334|PMID:25741868|PMID:28492532|PMID:30797135|PMID:34387910|PMID:34813777|PMID:35212421
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:0111391	mucopolysaccharidosis IVA		ISO	RGD:1343157	D	RGD:7240710	20191030	OMIM			
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:0111391	mucopolysaccharidosis IVA		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GALNS DEFICIENCY | ClinVar Annotator: match by term: GALNS-related condition | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IVA | ClinVar Annotator: match by term: Mucopolysaccharidosis IVA | ClinVar Annotator: match by term: Mucopolysaccharidosis Type IVA | ClinVar Annotator: match by term: Mucopolysaccharidosis type IVA | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A	PMID:10814710|PMID:12442278|PMID:12721840|PMID:1522213|PMID:15235041|PMID:15241807|PMID:15309681|PMID:16199547|PMID:16287098|PMID:16378744|PMID:16837223|PMID:16959974|PMID:17576681|PMID:17876718|PMID:18710657|PMID:18792995|PMID:20574428|PMID:21506915|PMID:21644215|PMID:21896407|PMID:22078177|PMID:22178352|PMID:22327063|PMID:22487817|PMID:22521955|PMID:22940367|PMID:22976768|PMID:23137060|PMID:23227063|PMID:23313879|PMID:23401410|PMID:23430803|PMID:23844448|PMID:23876334|PMID:24035930|PMID:24120057|PMID:24389823|PMID:24411403|PMID:24726177|PMID:24773188|PMID:24875751|PMID:25137622|PMID:25252036|PMID:25287660|PMID:25364648|PMID:25433535|PMID:25501214|PMID:25545067|PMID:25640679|PMID:25741868|PMID:26112015|PMID:26147980|PMID:26276046|PMID:26502894|PMID:26670863|PMID:27243974|PMID:27317439|PMID:27331011|PMID:27825773|PMID:28397226|PMID:28492532|PMID:28844463|PMID:29275451|PMID:29426755|PMID:29620724|PMID:29731656|PMID:30023300|PMID:30094185|PMID:30138938|PMID:30305043|PMID:30408610|PMID:30458289|PMID:30797135|PMID:30809705|PMID:30927141|PMID:30980944|PMID:31200731|PMID:3129221|PMID:31991612|PMID:32014045|PMID:32024277|PMID:32102177|PMID:32216080|PMID:32860008|PMID:32905071|PMID:32993725|PMID:33083013|PMID:33189153|PMID:33256811|PMID:33304816|PMID:33407246|PMID:33752727|PMID:34006472|PMID:34008892|PMID:34076347|PMID:34387910|PMID:34472180|PMID:34542925|PMID:34557487|PMID:34573925|PMID:34813777|PMID:34867278|PMID:35005816|PMID:35094026|PMID:35212421|PMID:35614200|PMID:35616356|PMID:35729508|PMID:35782601|PMID:36292628|PMID:37901859|PMID:38730490|PMID:38774940|PMID:7581409|PMID:7633425|PMID:7668283|PMID:7795586|PMID:7987329|PMID:8651279|PMID:8826435|PMID:8844220|PMID:9290256|PMID:9298823|PMID:9375852|PMID:9385378|PMID:9521421|PMID:9536098|PMID:9660054
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:1059	intellectual disability		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:34557487|PMID:35212421|PMID:35616356
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:12804	mucopolysaccharidosis IV		ISO	RGD:1343157	D	RGD:11554173	20191105	CTD		CTD Direct Evidence: marker/mechanism	
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:12804	mucopolysaccharidosis IV		ISO	RGD:1343157	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GALACTOSAMINE-6-SULFATASE DEFICIENCY | ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome | ClinVar Annotator: match by term: Mucopolysaccharidosis, Type IV	PMID:10814710|PMID:12442278|PMID:12721840|PMID:1522213|PMID:15235041|PMID:16199547|PMID:16287098|PMID:16959974|PMID:22521955|PMID:22940367|PMID:23876334|PMID:24120057|PMID:24726177|PMID:25137622|PMID:25252036|PMID:25501214|PMID:25545067|PMID:25741868|PMID:26147980|PMID:26502894|PMID:26670863|PMID:27331011|PMID:28492532|PMID:28844463|PMID:29275451|PMID:30023300|PMID:30305043|PMID:30458289|PMID:30797135|PMID:30927141|PMID:31991612|PMID:32014045|PMID:32905071|PMID:33256811|PMID:34387910|PMID:34557487|PMID:34813777|PMID:35005816|PMID:35212421|PMID:35614200|PMID:35616356|PMID:38774940|PMID:7633425|PMID:8829629|PMID:9298823|PMID:9375852|PMID:9521421
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:12804	mucopolysaccharidosis IV		ISS	RGD:1558089	D	RGD:13592920	20230718	MouseDO			
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:1459	hypothyroidism		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:15235041|PMID:24726177|PMID:25252036|PMID:25545067|PMID:25741868|PMID:27331011|PMID:28492532|PMID:30458289|PMID:34387910|PMID:7633425
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:1826	epilepsy		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:34557487|PMID:35212421|PMID:35616356
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:1522213|PMID:15235041|PMID:22940367|PMID:23876334|PMID:24726177|PMID:25252036|PMID:25545067|PMID:25741868|PMID:26670863|PMID:27331011|PMID:28492532|PMID:30458289|PMID:33256811|PMID:34387910|PMID:7633425
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:3275	thymoma		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:4362	cervical cancer		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:4667	kyphosis		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:10814710|PMID:15235041|PMID:22940367|PMID:23844448|PMID:23876334|PMID:24726177|PMID:25252036|PMID:25741868|PMID:26670863|PMID:28492532|PMID:30980944|PMID:34387910|PMID:35729508|PMID:7633425
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:5041	esophageal cancer		ISO	RGD:1343157	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:630	genetic disease		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15235041|PMID:22940367|PMID:23876334|PMID:24726177|PMID:25137622|PMID:25252036|PMID:25545067|PMID:25741868|PMID:26147980|PMID:26670863|PMID:27331011|PMID:28492532|PMID:30458289|PMID:34387910|PMID:7633425|PMID:9298823|PMID:9521421
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:693	dental enamel hypoplasia		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enamel hypoplasia	PMID:15235041|PMID:24726177|PMID:25252036|PMID:25545067|PMID:25741868|PMID:27331011|PMID:28492532|PMID:30458289|PMID:34387910|PMID:7633425
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9000641	Pain		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:15235041|PMID:16287098|PMID:24726177|PMID:25252036|PMID:25545067|PMID:25741868|PMID:27331011|PMID:28492532|PMID:30458289|PMID:34387910|PMID:7633425|PMID:9298823
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9001510	Funnel Chest		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:15235041|PMID:22940367|PMID:23876334|PMID:25741868|PMID:26670863|PMID:34387910
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:15235041|PMID:24726177|PMID:25252036|PMID:25545067|PMID:25741868|PMID:27331011|PMID:28492532|PMID:30458289|PMID:34387910|PMID:7633425
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9002589	Bone Fractures		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:15235041|PMID:24726177|PMID:25252036|PMID:25545067|PMID:25741868|PMID:27331011|PMID:28492532|PMID:30458289|PMID:34387910|PMID:7633425
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343157	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:16287098|PMID:16959974|PMID:23876334|PMID:25741868|PMID:28492532|PMID:30797135|PMID:34387910|PMID:34813777|PMID:35212421
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9003816	Macrocephaly		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:15235041|PMID:22940367|PMID:23876334|PMID:25741868|PMID:26670863|PMID:34387910
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:10814710|PMID:15235041|PMID:22940367|PMID:23844448|PMID:23876334|PMID:24726177|PMID:25252036|PMID:25741868|PMID:26670863|PMID:28492532|PMID:30980944|PMID:34387910|PMID:35729508|PMID:7633425
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9004866	Ataxia		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:34557487|PMID:35212421|PMID:35616356
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9005077	Joint Instability		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:15235041|PMID:22940367|PMID:23876334|PMID:25741868|PMID:26670863|PMID:34387910
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9005372	Inflammation		ISO	RGD:1343157	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:7849337
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:15235041|PMID:22940367|PMID:23876334|PMID:25741868|PMID:26670863|PMID:34387910
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9007573	Flatfoot		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:15235041|PMID:22940367|PMID:23876334|PMID:25741868|PMID:26670863|PMID:34387910
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9007661	Dwarfism		ISO	RGD:1343157	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10814710|PMID:15235041|PMID:16287098|PMID:16959974|PMID:23844448|PMID:23876334|PMID:24726177|PMID:25252036|PMID:25545067|PMID:25741868|PMID:27331011|PMID:28492532|PMID:30458289|PMID:30797135|PMID:30980944|PMID:34387910|PMID:34813777|PMID:35212421|PMID:35729508|PMID:7633425
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9008214	Genu Valgum		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:10814710|PMID:15235041|PMID:22940367|PMID:23844448|PMID:23876334|PMID:24726177|PMID:25252036|PMID:25741868|PMID:26670863|PMID:28492532|PMID:30980944|PMID:34387910|PMID:35729508|PMID:7633425
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1343157	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:10814710|PMID:15235041|PMID:16287098|PMID:16959974|PMID:23844448|PMID:23876334|PMID:24726177|PMID:25252036|PMID:25741868|PMID:28492532|PMID:30797135|PMID:30980944|PMID:34387910|PMID:34813777|PMID:35212421|PMID:35729508|PMID:7633425
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565391	Galns	galactosamine (N-acetyl)-6-sulfatase	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1343157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:15235041|PMID:24726177|PMID:25252036|PMID:25545067|PMID:25741868|PMID:27331011|PMID:28492532|PMID:30458289|PMID:34387910|PMID:7633425
1565392	Pcdh19	protocadherin 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565392	Pcdh19	protocadherin 19	gene	DOID:0050587	trichotillomania		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichotillomania	
1565392	Pcdh19	protocadherin 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565392	Pcdh19	protocadherin 19	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1354208	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1565392	Pcdh19	protocadherin 19	gene	DOID:0060249	scoliosis		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
1565392	Pcdh19	protocadherin 19	gene	DOID:0060260	ptosis		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
1565392	Pcdh19	protocadherin 19	gene	DOID:0060848	developmental and epileptic encephalopathy 9		ISO	RGD:1354208	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565392	Pcdh19	protocadherin 19	gene	DOID:0060848	developmental and epileptic encephalopathy 9		ISO	RGD:1354208	D	RGD:7240710	20131030	OMIM			
1565392	Pcdh19	protocadherin 19	gene	DOID:0060848	developmental and epileptic encephalopathy 9		ISO	RGD:1354208	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 9 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 9 | ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME	PMID:16199547|PMID:17576681|PMID:18234694|PMID:18414213|PMID:18469813|PMID:19214208|PMID:19752159|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:21777234|PMID:22050978|PMID:22267240|PMID:22504056|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23334464|PMID:23708187|PMID:23712037|PMID:23808377|PMID:25204757|PMID:25227595|PMID:25499160|PMID:25640679|PMID:25741868|PMID:25818041|PMID:25891919|PMID:26467025|PMID:26704558|PMID:26765483|PMID:26954813|PMID:26993267|PMID:27029629|PMID:27177984|PMID:27179713|PMID:27527380|PMID:27787195|PMID:27864847|PMID:27884173|PMID:28102150|PMID:28334947|PMID:28462982|PMID:28492532|PMID:28669061|PMID:28690234|PMID:28837158|PMID:29064093|PMID:29180823|PMID:29190809|PMID:29301106|PMID:29358611|PMID:29377098|PMID:29644095|PMID:29655203|PMID:29763708|PMID:29866057|PMID:29933145|PMID:29933521|PMID:30287595|PMID:30451291|PMID:30530412|PMID:30828795|PMID:30945278|PMID:31054490|PMID:31139143|PMID:31175295|PMID:31302675|PMID:31319225|PMID:31440721|PMID:31487502|PMID:31618753|PMID:31665840|PMID:31714027|PMID:31928905|PMID:32146541|PMID:32189863|PMID:32366910|PMID:32425876|PMID:32852734|PMID:33057194|PMID:33131168|PMID:33176815|PMID:33262389|PMID:33767182|PMID:34008892|PMID:34082468|PMID:34331950|PMID:34615535|PMID:35571021|PMID:35723786|PMID:36539902|PMID:36980870|PMID:38259611|PMID:9536098
1565392	Pcdh19	protocadherin 19	gene	DOID:0070616	glycine encephalopathy 1		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycine encephalopathy 1	PMID:28492532
1565392	Pcdh19	protocadherin 19	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1354208	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:28492532
1565392	Pcdh19	protocadherin 19	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1354208	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868
1565392	Pcdh19	protocadherin 19	gene	DOID:1059	intellectual disability		ISO	RGD:1354208	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1565392	Pcdh19	protocadherin 19	gene	DOID:10908	hydrocephalus		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:21053371|PMID:22946748|PMID:25741868|PMID:28492532
1565392	Pcdh19	protocadherin 19	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1565392	Pcdh19	protocadherin 19	gene	DOID:12849	autistic disorder		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1565392	Pcdh19	protocadherin 19	gene	DOID:1826	epilepsy		ISO	RGD:1354208	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18469813
1565392	Pcdh19	protocadherin 19	gene	DOID:1826	epilepsy		ISO	RGD:1354208	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure | ClinVar Annotator: match by term: seizures	PMID:19214208|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:22267240|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23334464|PMID:23712037|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27527380|PMID:27787195|PMID:28492532|PMID:28669061|PMID:29064093|PMID:29301106|PMID:29377098|PMID:29655203|PMID:29933145|PMID:30287595|PMID:31302675|PMID:31487502|PMID:32105270
1565392	Pcdh19	protocadherin 19	gene	DOID:1827	generalized epilepsy		ISO	RGD:1354208	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
1565392	Pcdh19	protocadherin 19	gene	DOID:2034	encephalomalacia		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalomalacia	PMID:25741868|PMID:28492532
1565392	Pcdh19	protocadherin 19	gene	DOID:2234	focal epilepsy		ISO	RGD:1354208	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	
1565392	Pcdh19	protocadherin 19	gene	DOID:3329	benign epilepsy with centrotemporal spikes		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rolandic epilepsy	PMID:19214208|PMID:19752159|PMID:20713952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29180823|PMID:29358611|PMID:34082468|PMID:36539902
1565392	Pcdh19	protocadherin 19	gene	DOID:4428	dyslexia		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:25741868|PMID:28492532
1565392	Pcdh19	protocadherin 19	gene	DOID:630	genetic disease		ISO	RGD:1354208	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18234694|PMID:18414213|PMID:18469813|PMID:19214208|PMID:19752159|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:22267240|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23334464|PMID:23708187|PMID:23712037|PMID:23808377|PMID:25741868|PMID:26467025|PMID:26765483|PMID:27161523|PMID:27179713|PMID:27527380|PMID:27787195|PMID:28492532|PMID:28669061|PMID:29064093|PMID:29180823|PMID:29301106|PMID:29358611|PMID:29377098|PMID:29866057|PMID:29933145|PMID:30287595|PMID:30530412|PMID:31302675|PMID:34082468|PMID:36539902
1565392	Pcdh19	protocadherin 19	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: generalized tonic-clonic seizures	
1565392	Pcdh19	protocadherin 19	gene	DOID:9000495	Tremor		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Resting tremor	PMID:25741868|PMID:28492532
1565392	Pcdh19	protocadherin 19	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1565392	Pcdh19	protocadherin 19	gene	DOID:9002079	Paresis		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:25741868|PMID:28492532
1565392	Pcdh19	protocadherin 19	gene	DOID:9003133	Hypertelorism		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1565392	Pcdh19	protocadherin 19	gene	DOID:9003816	Macrocephaly		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1565392	Pcdh19	protocadherin 19	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:21053371|PMID:22946748|PMID:25741868|PMID:28492532|PMID:32852734
1565392	Pcdh19	protocadherin 19	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1354208	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18469813
1565392	Pcdh19	protocadherin 19	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:19214208|PMID:20713952|PMID:21480887|PMID:21519002|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23334464|PMID:25741868|PMID:26467025|PMID:27527380|PMID:27787195|PMID:28492532|PMID:29064093|PMID:29301106|PMID:29377098|PMID:30287595|PMID:31302675
1565392	Pcdh19	protocadherin 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1565392	Pcdh19	protocadherin 19	gene	DOID:9007573	Flatfoot		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:21053371|PMID:22946748|PMID:25741868|PMID:28492532
1565392	Pcdh19	protocadherin 19	gene	DOID:9007661	Dwarfism		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1565392	Pcdh19	protocadherin 19	gene	DOID:9007817	Macroglossia		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	
1565392	Pcdh19	protocadherin 19	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1354208	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Complex febrile seizure	PMID:25741868
1565392	Pcdh19	protocadherin 19	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21053371|PMID:22267240|PMID:22946748|PMID:25741868|PMID:28492532
1565392	Pcdh19	protocadherin 19	gene	DOID:9268	glycine encephalopathy		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-ketotic hyperglycinemia	
1565392	Pcdh19	protocadherin 19	gene	DOID:936	brain disease		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:11736639|PMID:19214208|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:22267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:25741868|PMID:28492532|PMID:32105270|PMID:36011376
1565392	Pcdh19	protocadherin 19	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1565392	Pcdh19	protocadherin 19	gene	DOID:9970	obesity		ISO	RGD:1354208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:21053371|PMID:22946748|PMID:25741868|PMID:28492532
1565393	Fam170a	family with sequence similarity 170, member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565396	Fcho2	FCH and mu domain containing endocytic adaptor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565396	Fcho2	FCH and mu domain containing endocytic adaptor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565396	Fcho2	FCH and mu domain containing endocytic adaptor 2	gene	DOID:1324	lung cancer		ISO	RGD:1348405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565396	Fcho2	FCH and mu domain containing endocytic adaptor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565396	Fcho2	FCH and mu domain containing endocytic adaptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1348405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565396	Fcho2	FCH and mu domain containing endocytic adaptor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565396	Fcho2	FCH and mu domain containing endocytic adaptor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348405	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565396	Fcho2	FCH and mu domain containing endocytic adaptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565396	Fcho2	FCH and mu domain containing endocytic adaptor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565396	Fcho2	FCH and mu domain containing endocytic adaptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565396	Fcho2	FCH and mu domain containing endocytic adaptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565396	Fcho2	FCH and mu domain containing endocytic adaptor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:20302629|PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0050558	Ullrich congenital muscular dystrophy		ISO	RGD:1352880	D	RGD:11554173	20230627	CTD		CTD Direct Evidence: marker/mechanism	
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0050558	Ullrich congenital muscular dystrophy		ISS	RGD:1558231	D	RGD:13592920	20230718	MouseDO		OMIM:254090	
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0050663	Bethlem myopathy		ISO	RGD:1352880	D	RGD:11554173	20190402	CTD		CTD Direct Evidence: marker/mechanism	
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0050663	Bethlem myopathy		ISO	RGD:1352880	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures	PMID:15689448|PMID:15955946|PMID:16130093|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344236|PMID:19884007|PMID:20302629|PMID:20976770|PMID:20981092|PMID:24033266|PMID:24038877|PMID:24271325|PMID:25741868|PMID:26467025|PMID:27363342|PMID:27884173|PMID:28492532|PMID:28688748|PMID:29419890|PMID:30564623|PMID:30706156|PMID:32528171|PMID:7695699|PMID:8218237|PMID:9536098
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0050663	Bethlem myopathy		ISS	RGD:1558231	D	RGD:13592920	20230718	MouseDO		OMIM:158810	
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0060249	scoliosis		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:15689448|PMID:15955946|PMID:19344236|PMID:24038877|PMID:25741868|PMID:27363342|PMID:28492532|PMID:7695699|PMID:8218237
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0060946	Ullrich congenital muscular dystrophy 1A		ISO	RGD:1352880	D	RGD:7240710	20230621	OMIM			
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0060946	Ullrich congenital muscular dystrophy 1A		ISO	RGD:1352880	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A	PMID:15689448|PMID:16199547|PMID:18366090|PMID:18414213|PMID:19344236|PMID:20976770|PMID:21280092|PMID:24038877|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32528171|PMID:33963534|PMID:34008892|PMID:35533453|PMID:7695699|PMID:8218237
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0060946	Ullrich congenital muscular dystrophy 1A		ISS	RGD:1558231	D	RGD:13592920	20260416	MouseDO		OMIM:254090	
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1352880	D	RGD:7240710	20190327	OMIM			
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1352880	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A | ClinVar Annotator: match by term: COL6A1-related condition | ClinVar Annotator: match by term: COL6A1-related disorder	PMID:10329467|PMID:10419498|PMID:11707460|PMID:11865138|PMID:11932968|PMID:15563506|PMID:15689448|PMID:15955946|PMID:16130093|PMID:16199547|PMID:16278855|PMID:16935502|PMID:17576681|PMID:17785673|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19344236|PMID:19564581|PMID:19884007|PMID:20301676|PMID:20302629|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22975586|PMID:23040494|PMID:23738969|PMID:24033266|PMID:24038877|PMID:24223098|PMID:24271325|PMID:25204870|PMID:25535305|PMID:25635128|PMID:25640679|PMID:25741868|PMID:25749816|PMID:26436962|PMID:26467025|PMID:27363342|PMID:27447704|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28492532|PMID:28688748|PMID:28771251|PMID:28831785|PMID:28984114|PMID:29406609|PMID:29419890|PMID:30564623|PMID:30706156|PMID:31130284|PMID:31589614|PMID:32154989|PMID:32389683|PMID:32528171|PMID:33250842|PMID:33726816|PMID:34008892|PMID:34167565|PMID:35533453|PMID:38155714|PMID:39397694|PMID:7695699|PMID:8218237|PMID:9536098
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:0061198	Bethlem myopathy 1A	susceptibility	ISO	RGD:1352880	D	RGD:1600934|PMID:8782832	20070330	RGD		Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)	
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1352880	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30564623|PMID:9536098
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:11162	respiratory failure		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:15689448|PMID:15955946|PMID:19344236|PMID:20302629|PMID:24038877|PMID:25741868|PMID:27363342|PMID:28492532|PMID:7695699|PMID:8218237
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:11836	clubfoot		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:12143	neurogenic bladder		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:25741868
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1352880	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:13580	cholestasis		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:1826	epilepsy		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20302629|PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:2841	asthma		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:20302629|PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:423	myopathy		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:11707460|PMID:15689448|PMID:15955946|PMID:16199547|PMID:18366090|PMID:18378883|PMID:20976770|PMID:21280092|PMID:25635128|PMID:25741868|PMID:27854213|PMID:28492532|PMID:28771251|PMID:28831785|PMID:32389683
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1352880	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15689448|PMID:15955946|PMID:19344236|PMID:24038877|PMID:25741868|PMID:27363342|PMID:28492532|PMID:7695699|PMID:8218237
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9000058	Keloid		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keloid formation	PMID:25741868
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:15689448|PMID:15955946|PMID:19344236|PMID:24038877|PMID:27363342|PMID:28492532|PMID:7695699|PMID:8218237
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9000727	Syncope		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:15689448|PMID:15955946|PMID:19344236|PMID:24038877|PMID:27363342|PMID:28492532|PMID:7695699|PMID:8218237
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:20302629|PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352880	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9001581	Constipation		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:20302629|PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1352880	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9003816	Macrocephaly		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:20302629|PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1352880	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23692979
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1352880	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:11707460|PMID:15689448|PMID:15955946|PMID:18378883|PMID:19344236|PMID:24038877|PMID:25741868|PMID:27363342|PMID:28492532|PMID:28831785|PMID:32389683|PMID:7695699|PMID:8218237
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:20302629|PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:25741868
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:936	brain disease		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:20302629|PMID:25741868|PMID:28492532
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9775	diastolic heart failure		ISO	RGD:1352880	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
1565398	Col6a1	collagen type VI alpha 1 chain	gene	DOID:9884	muscular dystrophy		ISO	RGD:1352880	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20716577
1565406	Agr3	anterior gradient 3, protein disulphide isomerase family member	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565406	Agr3	anterior gradient 3, protein disulphide isomerase family member	gene	DOID:10534	stomach cancer		ISO	RGD:1604981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565406	Agr3	anterior gradient 3, protein disulphide isomerase family member	gene	DOID:1115	sarcoma		ISO	RGD:1604981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565406	Agr3	anterior gradient 3, protein disulphide isomerase family member	gene	DOID:1324	lung cancer		ISO	RGD:1604981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565406	Agr3	anterior gradient 3, protein disulphide isomerase family member	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565406	Agr3	anterior gradient 3, protein disulphide isomerase family member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565406	Agr3	anterior gradient 3, protein disulphide isomerase family member	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565406	Agr3	anterior gradient 3, protein disulphide isomerase family member	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1565406	Agr3	anterior gradient 3, protein disulphide isomerase family member	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565407	Ocel1	occludin/ELL domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565407	Ocel1	occludin/ELL domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603010	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565407	Ocel1	occludin/ELL domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565407	Ocel1	occludin/ELL domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565407	Ocel1	occludin/ELL domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565407	Ocel1	occludin/ELL domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565407	Ocel1	occludin/ELL domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603010	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565407	Ocel1	occludin/ELL domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565407	Ocel1	occludin/ELL domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565407	Ocel1	occludin/ELL domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565408	Sertad4	SERTA domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565408	Sertad4	SERTA domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565408	Sertad4	SERTA domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1351903	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565408	Sertad4	SERTA domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1351903	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565408	Sertad4	SERTA domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1351903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565408	Sertad4	SERTA domain containing 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565408	Sertad4	SERTA domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565411	Prpf40b	pre-mRNA processing factor 40B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565411	Prpf40b	pre-mRNA processing factor 40B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565411	Prpf40b	pre-mRNA processing factor 40B	gene	DOID:1115	sarcoma		ISO	RGD:1604375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565411	Prpf40b	pre-mRNA processing factor 40B	gene	DOID:1324	lung cancer		ISO	RGD:1604375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565411	Prpf40b	pre-mRNA processing factor 40B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565411	Prpf40b	pre-mRNA processing factor 40B	gene	DOID:6039	uveal melanoma		ISO	RGD:1604375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565411	Prpf40b	pre-mRNA processing factor 40B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565411	Prpf40b	pre-mRNA processing factor 40B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565411	Prpf40b	pre-mRNA processing factor 40B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565414	Nhlrc3	NHL repeat containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565414	Nhlrc3	NHL repeat containing 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1565414	Nhlrc3	NHL repeat containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565414	Nhlrc3	NHL repeat containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565414	Nhlrc3	NHL repeat containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1605503	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565414	Nhlrc3	NHL repeat containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565414	Nhlrc3	NHL repeat containing 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1565414	Nhlrc3	NHL repeat containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565414	Nhlrc3	NHL repeat containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565416	Tln2	talin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565416	Tln2	talin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565416	Tln2	talin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565416	Tln2	talin 2	gene	DOID:1115	sarcoma		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565416	Tln2	talin 2	gene	DOID:1324	lung cancer		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565416	Tln2	talin 2	gene	DOID:1909	melanoma		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565416	Tln2	talin 2	gene	DOID:2661	myoepithelioma		ISO	RGD:1350417	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1565416	Tln2	talin 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565416	Tln2	talin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565416	Tln2	talin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565416	Tln2	talin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350417	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565416	Tln2	talin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565416	Tln2	talin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565416	Tln2	talin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565416	Tln2	talin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565416	Tln2	talin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565416	Tln2	talin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565416	Tln2	talin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565419	Zfp317	zinc finger protein 317	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565419	Zfp317	zinc finger protein 317	gene	DOID:1115	sarcoma		ISO	RGD:1345905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565419	Zfp317	zinc finger protein 317	gene	DOID:1909	melanoma		ISO	RGD:1345905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565419	Zfp317	zinc finger protein 317	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565419	Zfp317	zinc finger protein 317	gene	DOID:4362	cervical cancer		ISO	RGD:1345905	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565419	Zfp317	zinc finger protein 317	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565419	Zfp317	zinc finger protein 317	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565419	Zfp317	zinc finger protein 317	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565425	Lekr1	leucine, glutamate and lysine rich 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565425	Lekr1	leucine, glutamate and lysine rich 1	gene	DOID:1115	sarcoma		ISO	RGD:1605790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565425	Lekr1	leucine, glutamate and lysine rich 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565425	Lekr1	leucine, glutamate and lysine rich 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1565425	Lekr1	leucine, glutamate and lysine rich 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565425	Lekr1	leucine, glutamate and lysine rich 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565425	Lekr1	leucine, glutamate and lysine rich 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565426	Itih2	inter-alpha-trypsin inhibitor heavy chain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565426	Itih2	inter-alpha-trypsin inhibitor heavy chain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565426	Itih2	inter-alpha-trypsin inhibitor heavy chain 2	gene	DOID:1324	lung cancer		ISO	RGD:1345234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565426	Itih2	inter-alpha-trypsin inhibitor heavy chain 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565426	Itih2	inter-alpha-trypsin inhibitor heavy chain 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565426	Itih2	inter-alpha-trypsin inhibitor heavy chain 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345234	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565426	Itih2	inter-alpha-trypsin inhibitor heavy chain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565426	Itih2	inter-alpha-trypsin inhibitor heavy chain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565426	Itih2	inter-alpha-trypsin inhibitor heavy chain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565432	Svip	small VCP interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2306136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565432	Svip	small VCP interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2306136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565434	Synpo2l	synaptopodin 2-like	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1348800	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1565434	Synpo2l	synaptopodin 2-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565441	Klhl4	kelch-like family member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565441	Klhl4	kelch-like family member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565441	Klhl4	kelch-like family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1349490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565441	Klhl4	kelch-like family member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1349490	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565441	Klhl4	kelch-like family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565441	Klhl4	kelch-like family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565444	Mrpl40	mitochondrial ribosomal protein L40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565444	Mrpl40	mitochondrial ribosomal protein L40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565447	Hormad2	HORMA domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565447	Hormad2	HORMA domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565447	Hormad2	HORMA domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1348799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565447	Hormad2	HORMA domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1348799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1348471	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25848748
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:0070024	autosomal recessive dyskeratosis congenita 6		ISO	RGD:1348471	D	RGD:7240710	20150923	OMIM			
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:0070024	autosomal recessive dyskeratosis congenita 6		ISO	RGD:1348471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6	PMID:16199547|PMID:17576681|PMID:20301779|PMID:22834816|PMID:25640679|PMID:25741868|PMID:25807286|PMID:25848748|PMID:25893599|PMID:26482878|PMID:26810774|PMID:28099038|PMID:28414520|PMID:28492532|PMID:29204651|PMID:29891356|PMID:31448843|PMID:33510405|PMID:34580961|PMID:35771557|PMID:37216690|PMID:37301908|PMID:9536098|PMID:9736620
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:10300	Raynaud disease		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Raynaud phenomenon	PMID:17576681|PMID:28414520|PMID:28492532|PMID:9536098
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:10534	stomach cancer		ISO	RGD:1348471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:1115	sarcoma		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:1909	melanoma		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:2361	macrocytic anemia		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocytic anemia	PMID:17576681|PMID:28414520|PMID:28492532|PMID:9536098
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:16199547|PMID:25848748|PMID:25893599|PMID:26810774|PMID:28492532|PMID:9736620
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1348471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonary Fibrosis | ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:16199547|PMID:17576681|PMID:20301779|PMID:25741868|PMID:25848748|PMID:26482878|PMID:26810774|PMID:28099038|PMID:28192371|PMID:28414520|PMID:28492532|PMID:28495692|PMID:29891356|PMID:30525901|PMID:34580961|PMID:36028256|PMID:8414520|PMID:9536098|PMID:9736620
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:419	scleroderma		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scleroderma	PMID:17576681|PMID:28414520|PMID:28492532|PMID:9536098
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:4362	cervical cancer		ISO	RGD:1348471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:5041	esophageal cancer		ISO	RGD:1348471	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:630	genetic disease		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:8437	intestinal obstruction		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal obstruction	PMID:17576681|PMID:28414520|PMID:28492532|PMID:9536098
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:9002685	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4		ISO	RGD:1348471	D	RGD:7240710	20170405	OMIM			
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:9002685	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4		ISO	RGD:1348471	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4	PMID:16199547|PMID:16281054|PMID:17576681|PMID:20301779|PMID:25741868|PMID:25807286|PMID:25848748|PMID:25893599|PMID:26482878|PMID:26810774|PMID:28414520|PMID:28492532|PMID:29891356|PMID:34298581|PMID:34580961|PMID:37301908|PMID:9536098|PMID:9736620
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565449	Parn	poly(A)-specific ribonuclease	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565450	Catspert	catsper channel auxiliary subunit tau	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565450	Catspert	catsper channel auxiliary subunit tau	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565450	Catspert	catsper channel auxiliary subunit tau	gene	DOID:0070567	spermatogenic failure 68		ISO	RGD:1345082	D	RGD:7240710	20220330	OMIM			
1565450	Catspert	catsper channel auxiliary subunit tau	gene	DOID:0070567	spermatogenic failure 68		ISO	RGD:1345082	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 68	PMID:25741868
1565450	Catspert	catsper channel auxiliary subunit tau	gene	DOID:10283	prostate cancer		ISO	RGD:1345082	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1565450	Catspert	catsper channel auxiliary subunit tau	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565450	Catspert	catsper channel auxiliary subunit tau	gene	DOID:1324	lung cancer		ISO	RGD:1345082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565450	Catspert	catsper channel auxiliary subunit tau	gene	DOID:1909	melanoma		ISO	RGD:1345082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565450	Catspert	catsper channel auxiliary subunit tau	gene	DOID:4362	cervical cancer		ISO	RGD:1345082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565450	Catspert	catsper channel auxiliary subunit tau	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565450	Catspert	catsper channel auxiliary subunit tau	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565450	Catspert	catsper channel auxiliary subunit tau	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565450	Catspert	catsper channel auxiliary subunit tau	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565451	Lonrf3	LON peptidase N-terminal domain and ring finger 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565451	Lonrf3	LON peptidase N-terminal domain and ring finger 3	gene	DOID:10534	stomach cancer		ISO	RGD:1351493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565451	Lonrf3	LON peptidase N-terminal domain and ring finger 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565451	Lonrf3	LON peptidase N-terminal domain and ring finger 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565452	Tmem51	transmembrane protein 51	gene	DOID:10534	stomach cancer		ISO	RGD:1602878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565452	Tmem51	transmembrane protein 51	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565452	Tmem51	transmembrane protein 51	gene	DOID:5041	esophageal cancer		ISO	RGD:1602878	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565452	Tmem51	transmembrane protein 51	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565454	Izumo1	izumo sperm-oocyte fusion 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565457	Rasa4	RAS p21 protein activator 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2306251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565465	Uckl1	uridine-cytidine kinase 1-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565465	Uckl1	uridine-cytidine kinase 1-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565465	Uckl1	uridine-cytidine kinase 1-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1342858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565465	Uckl1	uridine-cytidine kinase 1-like 1	gene	DOID:1909	melanoma		ISO	RGD:1342858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565465	Uckl1	uridine-cytidine kinase 1-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565465	Uckl1	uridine-cytidine kinase 1-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342858	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565465	Uckl1	uridine-cytidine kinase 1-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565465	Uckl1	uridine-cytidine kinase 1-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1351388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1351388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1351388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1351388	D	RGD:11554173	20240206	CTD		CTD Direct Evidence: marker/mechanism	PMID:34686948
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1351388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1351388	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565468	Zzz3	zinc finger, ZZ-type containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1351388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1565469	Nudt17	nudix hydrolase 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565469	Nudt17	nudix hydrolase 17	gene	DOID:1324	lung cancer		ISO	RGD:1350013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565469	Nudt17	nudix hydrolase 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565469	Nudt17	nudix hydrolase 17	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350013	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1565469	Nudt17	nudix hydrolase 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565470	Kel	Kell metallo-endopeptidase (Kell blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565470	Kel	Kell metallo-endopeptidase (Kell blood group)	gene	DOID:10534	stomach cancer		ISO	RGD:1316929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565470	Kel	Kell metallo-endopeptidase (Kell blood group)	gene	DOID:1098	hemolytic disease of the fetus		ISO	RGD:1316929	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KELL K/k BLOOD GROUP POLYMORPHISM	PMID:25741868
1565470	Kel	Kell metallo-endopeptidase (Kell blood group)	gene	DOID:1115	sarcoma		ISO	RGD:1316929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565470	Kel	Kell metallo-endopeptidase (Kell blood group)	gene	DOID:1324	lung cancer		ISO	RGD:1316929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565470	Kel	Kell metallo-endopeptidase (Kell blood group)	gene	DOID:5041	esophageal cancer		ISO	RGD:1316929	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565470	Kel	Kell metallo-endopeptidase (Kell blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565470	Kel	Kell metallo-endopeptidase (Kell blood group)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565470	Kel	Kell metallo-endopeptidase (Kell blood group)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565474	Tcaf1	TRPM8 channel-associated factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565474	Tcaf1	TRPM8 channel-associated factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:0080143	congenital fibrosis of the extraocular muscles		ISO	RGD:1603700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles	PMID:25741868
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1603700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:10907	microcephaly		ISO	RGD:1603700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:11476	osteoporosis		ISO	RGD:1603700	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:1909	melanoma		ISO	RGD:1603700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1603700	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:440	neuromuscular disease		ISO	RGD:1603700	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:9007661	Dwarfism		ISO	RGD:1603700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1565476	Tuba1b	tubulin, alpha 1B	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1603700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868
1565480	Ube2u	ubiquitin conjugating enzyme E2 U	gene	DOID:10534	stomach cancer		ISO	RGD:1606149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565480	Ube2u	ubiquitin conjugating enzyme E2 U	gene	DOID:1324	lung cancer		ISO	RGD:1606149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565480	Ube2u	ubiquitin conjugating enzyme E2 U	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565480	Ube2u	ubiquitin conjugating enzyme E2 U	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1342500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:1324	lung cancer		ISO	RGD:1342500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:1909	melanoma		ISO	RGD:1342500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1354488	D	RGD:9588233|PMID:25151357	20141210	RGD		DNA:mutations:multiple (human)	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1354488	D	RGD:6907137|PMID:21654818	20121030	RGD			
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1354488	D	RGD:9587837|PMID:23057811	20141021	RGD		mRNA, protein:increased expression:kidney (human)	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:5041	esophageal cancer		ISO	RGD:1342500	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1354488	D	RGD:9587761|PMID:24200674	20141016	RGD		mRNA:decreased expression:prostate gland (human)	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:1354488	D	RGD:9586031|PMID:22199269	20141003	RGD		mRNA:increased expression:breast (human)	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:1354488	D	RGD:9586731|PMID:23266085	20141003	RGD		mRNA:increased expression:breast (human)	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565481	Uty	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	gene	DOID:9952	acute lymphoblastic leukemia	severity	ISO	RGD:1354488	D	RGD:9684944|PMID:22377896	20141210	RGD		DNA:mutations:cds:multiple (human)	
1565485	Zfp524	zinc finger protein 524	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565485	Zfp524	zinc finger protein 524	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565488	Jagn1	jagunal vesicle mediated transporter 1	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1342770	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Severe congenital neutropenia	PMID:25129144|PMID:25741868|PMID:27980538|PMID:28492532|PMID:33206996
1565488	Jagn1	jagunal vesicle mediated transporter 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565488	Jagn1	jagunal vesicle mediated transporter 1	gene	DOID:0111227	frontotemporal dementia and/or amyotrophic lateral sclerosis 7		ISO	RGD:1342770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	PMID:25741868
1565488	Jagn1	jagunal vesicle mediated transporter 1	gene	DOID:0112134	severe congenital neutropenia 6		ISO	RGD:1342770	D	RGD:11531098|PMID:25851723	20160825	RGD		DNA:missense mutation:exon:p.H44Y (human)	
1565488	Jagn1	jagunal vesicle mediated transporter 1	gene	DOID:0112134	severe congenital neutropenia 6		ISO	RGD:1342770	D	RGD:11531099|PMID:25129144	20160825	RGD		DNA:missense mutations: :multiple	
1565488	Jagn1	jagunal vesicle mediated transporter 1	gene	DOID:0112134	severe congenital neutropenia 6		ISO	RGD:1342770	D	RGD:7240710	20150624	OMIM			
1565488	Jagn1	jagunal vesicle mediated transporter 1	gene	DOID:0112134	severe congenital neutropenia 6		ISO	RGD:1342770	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Severe congenital neutropenia 6, autosomal recessive	PMID:17576681|PMID:25129144|PMID:25741868|PMID:25851723|PMID:28492532|PMID:32419428|PMID:37528877|PMID:9536098
1565488	Jagn1	jagunal vesicle mediated transporter 1	gene	DOID:1227	neutropenia		ISO	RGD:1342770	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25129144|PMID:25129145
1565488	Jagn1	jagunal vesicle mediated transporter 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565488	Jagn1	jagunal vesicle mediated transporter 1	gene	DOID:630	genetic disease		ISO	RGD:1342770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1565488	Jagn1	jagunal vesicle mediated transporter 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565493	Rgs22	regulator of G-protein signaling 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565493	Rgs22	regulator of G-protein signaling 22	gene	DOID:1115	sarcoma		ISO	RGD:1606803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565493	Rgs22	regulator of G-protein signaling 22	gene	DOID:4362	cervical cancer		ISO	RGD:1606803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565493	Rgs22	regulator of G-protein signaling 22	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606803	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565493	Rgs22	regulator of G-protein signaling 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565493	Rgs22	regulator of G-protein signaling 22	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565493	Rgs22	regulator of G-protein signaling 22	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565493	Rgs22	regulator of G-protein signaling 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565494	Magea9	MAGE family member A9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344901	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17290406
1565496	Hacd3	3-hydroxyacyl-CoA dehydratase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565496	Hacd3	3-hydroxyacyl-CoA dehydratase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565496	Hacd3	3-hydroxyacyl-CoA dehydratase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565496	Hacd3	3-hydroxyacyl-CoA dehydratase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565496	Hacd3	3-hydroxyacyl-CoA dehydratase 3	gene	DOID:1115	sarcoma		ISO	RGD:1605074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565496	Hacd3	3-hydroxyacyl-CoA dehydratase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1605074	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565496	Hacd3	3-hydroxyacyl-CoA dehydratase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565496	Hacd3	3-hydroxyacyl-CoA dehydratase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565496	Hacd3	3-hydroxyacyl-CoA dehydratase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565498	Kics2	KICSTOR subunit 2	gene	DOID:0061114	autosomal recessive intellectual developmental disorder 83		ISO	RGD:1603179	D	RGD:7240710	20250226	OMIM			
1565498	Kics2	KICSTOR subunit 2	gene	DOID:0061114	autosomal recessive intellectual developmental disorder 83		ISO	RGD:1603179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 83	
1565498	Kics2	KICSTOR subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1603179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565498	Kics2	KICSTOR subunit 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1603179	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1565498	Kics2	KICSTOR subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1603179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565498	Kics2	KICSTOR subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565498	Kics2	KICSTOR subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:10094548|PMID:10684360|PMID:10752524|PMID:14514738|PMID:16199547|PMID:17576681|PMID:20378821|PMID:24033266|PMID:24854265|PMID:25741868|PMID:26809805|PMID:28492532|PMID:37100867|PMID:8510391|PMID:9195222|PMID:9536098
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1351504	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:12028435|PMID:14514738|PMID:15954103|PMID:19344236|PMID:19965530|PMID:21505094|PMID:23720012|PMID:24046192|PMID:25741868|PMID:27627812|PMID:28492532|PMID:29526710|PMID:30586318|PMID:30647093|PMID:33851121|PMID:34400539|PMID:37097554|PMID:7695699|PMID:8218237
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1351504	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:11462238|PMID:11572889|PMID:12028435|PMID:14514738|PMID:17396119|PMID:19344236|PMID:19965530|PMID:21505094|PMID:23144074|PMID:23720012|PMID:24033266|PMID:24046192|PMID:24304881|PMID:25741868|PMID:26467025|PMID:27627812|PMID:28492532|PMID:30577881|PMID:30773290|PMID:35132093|PMID:39413162|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8651296|PMID:8940267|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:0080354	Phelan-McDermid syndrome		ISO	RGD:1351504	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Phelan-McDermid syndrome	PMID:25741868
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1351504	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome	PMID:24304881|PMID:25741868|PMID:32581362
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:0110032	Alport syndrome 3A		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT	PMID:12028435|PMID:14514738|PMID:19344236|PMID:19965530|PMID:21505094|PMID:23144074|PMID:23720012|PMID:24046192|PMID:24304881|PMID:25741868|PMID:27627812|PMID:28492532|PMID:30577881|PMID:30773290|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8651296|PMID:8940267|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:0110034	X-linked Alport syndrome		ISO	RGD:1351504	D	RGD:7240710	20160615	OMIM			
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:0110034	X-linked Alport syndrome		ISO	RGD:1351504	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALPORT SYNDROME 1, X-LINKED | ClinVar Annotator: match by term: Alport syndrome 1, X-linked recessive | ClinVar Annotator: match by term: Alport syndrome X-linked | ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: NEPHROPATHY AND DEAFNESS, X-LINKED | ClinVar Annotator: match by term: X-linked Alport syndrome	PMID:10094548|PMID:10561141|PMID:10563487|PMID:10684360|PMID:10752524|PMID:10862091|PMID:10872188|PMID:11223851|PMID:11462238|PMID:11572889|PMID:12028435|PMID:12105244|PMID:12796257|PMID:1363780|PMID:1376965|PMID:14514738|PMID:14604828|PMID:14993485|PMID:15780079|PMID:15954103|PMID:1598909|PMID:16199547|PMID:1672282|PMID:16941480|PMID:17277342|PMID:17396119|PMID:17576681|PMID:17660027|PMID:18083113|PMID:18332068|PMID:18343956|PMID:18616531|PMID:19019929|PMID:19344236|PMID:19728970|PMID:19919694|PMID:19965530|PMID:20130921|PMID:20301386|PMID:20378821|PMID:20574986|PMID:20881942|PMID:20884774|PMID:21332469|PMID:21505094|PMID:21688191|PMID:21848006|PMID:22921432|PMID:22995991|PMID:23144074|PMID:23371956|PMID:2349482|PMID:23572034|PMID:23720012|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24046192|PMID:24077912|PMID:24088041|PMID:24130771|PMID:24304881|PMID:24359068|PMID:24470729|PMID:24472419|PMID:24759409|PMID:24854265|PMID:25183659|PMID:25307721|PMID:25525159|PMID:25572247|PMID:25575550|PMID:25739341|PMID:25741868|PMID:25788563|PMID:25869794|PMID:26014433|PMID:26063487|PMID:26168235|PMID:26346198|PMID:26467025|PMID:26613025|PMID:26633545|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27353043|PMID:27627812|PMID:27725732|PMID:27796712|PMID:28492532|PMID:28542346|PMID:28632965|PMID:28780565|PMID:28827396|PMID:28844315|PMID:28864840|PMID:29098738|PMID:29142990|PMID:29144512|PMID:29198386|PMID:29204651|PMID:29270492|PMID:29526701|PMID:29526710|PMID:29801666|PMID:29854973|PMID:29959198|PMID:30076350|PMID:30104322|PMID:30128941|PMID:30295827|PMID:30311386|PMID:30348286|PMID:30577881|PMID:30586318|PMID:30647093|PMID:30661074|PMID:30691124|PMID:30773290|PMID:30919572|PMID:30968591|PMID:31027891|PMID:31096494|PMID:31138263|PMID:31144478|PMID:31308072|PMID:31328266|PMID:31481700|PMID:31576025|PMID:31738409|PMID:31850286|PMID:31980082|PMID:32117450|PMID:32203225|PMID:32359821|PMID:32405592|PMID:32543079|PMID:32604935|PMID:32607233|PMID:32647767|PMID:32659759|PMID:32703181|PMID:32939031|PMID:33040356|PMID:33128955|PMID:33202306|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33330536|PMID:33369211|PMID:33532864|PMID:33633790|PMID:33712733|PMID:33854215|PMID:34008892|PMID:34120753|PMID:34215756|PMID:34225668|PMID:34400539|PMID:34426522|PMID:34440452|PMID:34508137|PMID:34540022|PMID:34693267|PMID:34733972|PMID:34746741|PMID:35005319|PMID:35020912|PMID:35022790|PMID:35064937|PMID:35132093|PMID:35155874|PMID:35243249|PMID:35368650|PMID:35419377|PMID:35580552|PMID:35643372|PMID:35759000|PMID:35789182|PMID:36100708|PMID:36117978|PMID:36177613|PMID:36553470|PMID:36721056|PMID:36874354|PMID:36938085|PMID:37097554|PMID:37100867|PMID:37217505|PMID:37225412|PMID:37230224|PMID:37248651|PMID:37464296|PMID:38249544|PMID:38668984|PMID:38790222|PMID:39278986|PMID:39349776|PMID:39413162|PMID:39430195|PMID:39597783|PMID:40004525|PMID:40855356|PMID:40949880|PMID:7485125|PMID:7599631|PMID:7695699|PMID:7969679|PMID:8218237|PMID:8433568|PMID:8441246|PMID:8455372|PMID:8648925|PMID:8651292|PMID:8651296|PMID:8738805|PMID:8807602|PMID:8887300|PMID:8940267|PMID:9150741|PMID:9195222|PMID:9452056|PMID:94548|PMID:9535854|PMID:9536098|PMID:9724608|PMID:9749944|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:0110034	X-linked Alport syndrome		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALPORT SYNDROME 1, X-LINKED | ClinVar Annotator: match by term: Alport syndrome X-linked | ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: NEPHROPATHY AND DEAFNESS, X-LINKED | ClinVar Annotator: match by term: X-linked Alport syndrome	PMID:10094548|PMID:10561141|PMID:10563487|PMID:10684360|PMID:10752524|PMID:10862091|PMID:10872188|PMID:11223851|PMID:11462238|PMID:11572889|PMID:12028435|PMID:12105244|PMID:12796257|PMID:1363780|PMID:1376965|PMID:14514738|PMID:14604828|PMID:14993485|PMID:15044104|PMID:15347445|PMID:15780079|PMID:15954103|PMID:1598909|PMID:16199547|PMID:1672282|PMID:16941480|PMID:17277342|PMID:17396119|PMID:17576681|PMID:17660027|PMID:18083113|PMID:18332068|PMID:18343956|PMID:18616531|PMID:19019929|PMID:19344236|PMID:19728970|PMID:19919694|PMID:19965530|PMID:20130921|PMID:20301386|PMID:20378821|PMID:20574986|PMID:20881942|PMID:20884774|PMID:21332469|PMID:21505094|PMID:21688191|PMID:21848006|PMID:22921432|PMID:22995991|PMID:23144074|PMID:23371956|PMID:2349482|PMID:23572034|PMID:23720012|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24046192|PMID:24077912|PMID:24088041|PMID:24130771|PMID:24304881|PMID:24359068|PMID:24470729|PMID:24472419|PMID:24522658|PMID:24759409|PMID:24854265|PMID:25183659|PMID:25307721|PMID:25525159|PMID:25572247|PMID:25575550|PMID:25739341|PMID:25741868|PMID:25788563|PMID:25869794|PMID:26014433|PMID:26063487|PMID:26168235|PMID:26346198|PMID:26467025|PMID:26613025|PMID:26633545|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27353043|PMID:27627812|PMID:27725732|PMID:27796712|PMID:28492532|PMID:28518168|PMID:28542346|PMID:28632965|PMID:28780565|PMID:28827396|PMID:28844315|PMID:28864840|PMID:29098738|PMID:29127259|PMID:29142990|PMID:29144512|PMID:29198386|PMID:29204651|PMID:29270492|PMID:29526701|PMID:29526710|PMID:29801666|PMID:29854973|PMID:29959198|PMID:30076350|PMID:30104322|PMID:30128941|PMID:30295827|PMID:30311386|PMID:30348286|PMID:30577881|PMID:30586318|PMID:30647093|PMID:30661074|PMID:30691124|PMID:30773290|PMID:30919572|PMID:30968591|PMID:31027891|PMID:31096494|PMID:31138263|PMID:31144478|PMID:31308072|PMID:31328266|PMID:31481700|PMID:31576025|PMID:31738409|PMID:31850286|PMID:31980082|PMID:32117450|PMID:32203225|PMID:32359821|PMID:32405592|PMID:32461654|PMID:32543079|PMID:32604935|PMID:32607233|PMID:32647767|PMID:32659759|PMID:32703181|PMID:32939031|PMID:33040356|PMID:33128955|PMID:33202306|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33330536|PMID:33369211|PMID:33532864|PMID:33633790|PMID:33712733|PMID:33851121|PMID:33854215|PMID:34008892|PMID:34120753|PMID:34215756|PMID:34225668|PMID:34400539|PMID:34426522|PMID:34440452|PMID:34508137|PMID:34540022|PMID:34693267|PMID:34733972|PMID:34746741|PMID:35005319|PMID:35020912|PMID:35022790|PMID:35064937|PMID:35132093|PMID:35155874|PMID:35243249|PMID:35368650|PMID:35419377|PMID:35580552|PMID:35643372|PMID:35675912|PMID:35759000|PMID:35789182|PMID:36100708|PMID:36117978|PMID:36177613|PMID:36553470|PMID:36721056|PMID:36874354|PMID:36938085|PMID:37097554|PMID:37100867|PMID:37217505|PMID:37225412|PMID:37230224|PMID:37248651|PMID:37464296|PMID:37495524|PMID:38249544|PMID:38668984|PMID:38790222|PMID:39278986|PMID:39349776|PMID:39413162|PMID:39430195|PMID:39597783|PMID:40004525|PMID:40485705|PMID:40855356|PMID:40949880|PMID:7485125|PMID:7599631|PMID:7695699|PMID:7969679|PMID:8218237|PMID:8433568|PMID:8441246|PMID:8455372|PMID:8648925|PMID:8651292|PMID:8651296|PMID:8738805|PMID:8807602|PMID:8887300|PMID:8940267|PMID:9150741|PMID:9195222|PMID:9452056|PMID:94548|PMID:9535854|PMID:9536098|PMID:9724608|PMID:9749944|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:0110034	X-linked Alport syndrome		ISS	RGD:1557379	D	RGD:13592920	20230718	MouseDO		OMIM:301050	
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:10561141|PMID:14993485|PMID:15780079|PMID:21505094|PMID:24033266|PMID:25741868|PMID:27281700|PMID:28492532|PMID:8648925
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:0111365	benign familial hematuria		ISO	RGD:1351504	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria	PMID:12028435|PMID:14514738|PMID:15954103|PMID:19344236|PMID:19965530|PMID:21505094|PMID:23720012|PMID:24046192|PMID:24304881|PMID:25741868|PMID:27627812|PMID:28492532|PMID:29526710|PMID:30586318|PMID:30647093|PMID:33851121|PMID:34400539|PMID:37097554|PMID:7695699|PMID:8218237
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder | ClinVar Annotator: match by term: sensorineural hearing loss	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29959198|PMID:8940267|PMID:9536098
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:1074	kidney failure		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:10094548|PMID:19344236|PMID:23720012|PMID:27627812|PMID:28492532|PMID:7695699|PMID:8218237
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:10763	hypertension		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertension	PMID:11223851|PMID:12028435|PMID:14514738|PMID:17396119|PMID:19344236|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:23720012|PMID:24046192|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27627812|PMID:28492532|PMID:28518168|PMID:28844315|PMID:29142990|PMID:29526701|PMID:29526710|PMID:29854973|PMID:30104322|PMID:30348286|PMID:30586318|PMID:30661074|PMID:30691124|PMID:31850286|PMID:32359821|PMID:32461654|PMID:32939031|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33854215|PMID:34008892|PMID:34215756|PMID:35020912|PMID:35022790|PMID:35643372|PMID:36100708|PMID:40485705|PMID:7695699|PMID:8218237|PMID:9724608|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:10952	nephritis		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephritis	PMID:25741868
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:10983	Alport syndrome		ISO	RGD:1351504	D	RGD:1600687|PMID:2349482	20070323	RGD		Alport Syndrome, OMIM:301050, DNA:deletion:exons	
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:10983	Alport syndrome		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Disease of glomerular basement membrane	PMID:10094548|PMID:10563487|PMID:10752524|PMID:11223851|PMID:12028435|PMID:12105244|PMID:12796257|PMID:14514738|PMID:15044104|PMID:15347445|PMID:15780079|PMID:15954103|PMID:17396119|PMID:17576681|PMID:18343956|PMID:19344236|PMID:19728970|PMID:19919694|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21505094|PMID:21688191|PMID:23144074|PMID:23720012|PMID:24046192|PMID:24077912|PMID:24130771|PMID:24304881|PMID:24470729|PMID:24854265|PMID:25525159|PMID:25741868|PMID:26063487|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27627812|PMID:28492532|PMID:28518168|PMID:28542346|PMID:28844315|PMID:29127259|PMID:29142990|PMID:29526701|PMID:29526710|PMID:29854973|PMID:30104322|PMID:30348286|PMID:30577881|PMID:30586318|PMID:30655312|PMID:30661074|PMID:30691124|PMID:30773290|PMID:30968591|PMID:31850286|PMID:31922066|PMID:32359821|PMID:32405592|PMID:32461654|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33854215|PMID:34008892|PMID:34215756|PMID:35020912|PMID:35022790|PMID:35643372|PMID:36100708|PMID:36685964|PMID:37097554|PMID:37225412|PMID:37495524|PMID:38680391|PMID:39278986|PMID:40485705|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8648925|PMID:8651296|PMID:8940267|PMID:9195222|PMID:9536098|PMID:9724608|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:1115	sarcoma		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:10094548|PMID:10561141|PMID:11223851|PMID:14993485|PMID:15780079|PMID:21505094|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27281700|PMID:28492532|PMID:8648925|PMID:8940267
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:11664	nephrosclerosis		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrosclerosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29959198|PMID:8940267|PMID:9536098
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:11830	myopia		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:11223851|PMID:12028435|PMID:14514738|PMID:17396119|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:24046192|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28518168|PMID:28844315|PMID:29142990|PMID:29526701|PMID:29526710|PMID:29854973|PMID:30104322|PMID:30348286|PMID:30586318|PMID:30661074|PMID:30691124|PMID:31850286|PMID:32359821|PMID:32461654|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33854215|PMID:34008892|PMID:34215756|PMID:35020912|PMID:35022790|PMID:35643372|PMID:36100708|PMID:40485705|PMID:9724608|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:15044104|PMID:15347445|PMID:19344236|PMID:19919694|PMID:20378821|PMID:23720012|PMID:24130771|PMID:25741868|PMID:27627812|PMID:28492532|PMID:28542346|PMID:29127259|PMID:32405592|PMID:33040356|PMID:37495524|PMID:7695699|PMID:8218237|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hemolytic-uremic syndrome	PMID:11223851|PMID:12028435|PMID:14514738|PMID:17396119|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:24046192|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28518168|PMID:28844315|PMID:29142990|PMID:29526701|PMID:29526710|PMID:29854973|PMID:30104322|PMID:30348286|PMID:30586318|PMID:30661074|PMID:30691124|PMID:31850286|PMID:32359821|PMID:32461654|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33854215|PMID:34008892|PMID:34215756|PMID:35020912|PMID:35022790|PMID:35643372|PMID:36100708|PMID:40485705|PMID:9724608|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:10094548|PMID:12028435|PMID:14514738|PMID:19344236|PMID:19965530|PMID:23720012|PMID:24046192|PMID:25741868|PMID:27627812|PMID:28492532|PMID:29098738|PMID:34225668|PMID:7695699|PMID:8218237
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351504	D	RGD:617154591|PMID:27936202	20250708	RGD		mRNA:increased expression:heart left ventricle	
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29959198|PMID:8940267|PMID:9536098
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1351504	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:10561141|PMID:10752524|PMID:14514738|PMID:14993485|PMID:15780079|PMID:21505094|PMID:24033266|PMID:24304881|PMID:24854265|PMID:25741868|PMID:26809805|PMID:27281700|PMID:28492532|PMID:28844315|PMID:8648925|PMID:9195222
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:1324	lung cancer		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:10094548|PMID:10561141|PMID:11223851|PMID:14993485|PMID:15780079|PMID:21505094|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8648925|PMID:8940267
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:1909	melanoma		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:2394	ovarian cancer		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:10094548|PMID:10561141|PMID:11223851|PMID:14993485|PMID:15780079|PMID:21505094|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8648925|PMID:8940267
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:2921	glomerulonephritis		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulonephritis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29959198|PMID:8940267|PMID:9536098
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:3275	thymoma		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:10094548|PMID:10561141|PMID:11223851|PMID:14993485|PMID:15780079|PMID:21505094|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27281700|PMID:28492532|PMID:8648925|PMID:8940267
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:557	kidney disease		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:10561141|PMID:15780079|PMID:18343956|PMID:19965530|PMID:22921432|PMID:22995991|PMID:23967202|PMID:24033266|PMID:25575550|PMID:25739341|PMID:25741868|PMID:25788563|PMID:26467025|PMID:27627812|PMID:27725732|PMID:28492532|PMID:28827396|PMID:30577881|PMID:31138263|PMID:31576025|PMID:8940267
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:10094548|PMID:10561141|PMID:11223851|PMID:14993485|PMID:15780079|PMID:21505094|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8648925|PMID:8940267
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:576	proteinuria		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Proteinuria | ClinVar Annotator: match by term: proteinuria	PMID:10561141|PMID:10862091|PMID:11223851|PMID:12028435|PMID:14514738|PMID:15954103|PMID:17396119|PMID:18616531|PMID:19019929|PMID:19344236|PMID:19728970|PMID:19919694|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21505094|PMID:21688191|PMID:23720012|PMID:24046192|PMID:24077912|PMID:24304881|PMID:24359068|PMID:24470729|PMID:25741868|PMID:25869794|PMID:26346198|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27627812|PMID:28492532|PMID:28518168|PMID:28844315|PMID:29142990|PMID:29270492|PMID:29526701|PMID:29526710|PMID:29854973|PMID:30104322|PMID:30348286|PMID:30577881|PMID:30586318|PMID:30647093|PMID:30661074|PMID:30691124|PMID:31328266|PMID:31850286|PMID:32359821|PMID:32461654|PMID:32703181|PMID:32939031|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33330536|PMID:33712733|PMID:33851121|PMID:33854215|PMID:34008892|PMID:34215756|PMID:34400539|PMID:35020912|PMID:35022790|PMID:35643372|PMID:36100708|PMID:37097554|PMID:37100867|PMID:38668984|PMID:40485705|PMID:7695699|PMID:8218237|PMID:9724608|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:576	proteinuria	onset	IMP		D	RGD:329845598|PMID:34675305	20240118	RGD			
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:10094548|PMID:10561141|PMID:11223851|PMID:14993485|PMID:15780079|PMID:21505094|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8648925|PMID:8940267
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:630	genetic disease		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10561141|PMID:11223851|PMID:12028435|PMID:1363780|PMID:1376965|PMID:14514738|PMID:15780079|PMID:15954103|PMID:17396119|PMID:17576681|PMID:18616531|PMID:19344236|PMID:19728970|PMID:19919694|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21505094|PMID:21688191|PMID:23720012|PMID:24046192|PMID:24077912|PMID:24359068|PMID:24470729|PMID:24472419|PMID:25741868|PMID:25869794|PMID:26346198|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27627812|PMID:28492532|PMID:28518168|PMID:28844315|PMID:29142990|PMID:29526701|PMID:29526710|PMID:29854973|PMID:29959198|PMID:30104322|PMID:30311386|PMID:30348286|PMID:30577881|PMID:30586318|PMID:30647093|PMID:30661074|PMID:30691124|PMID:30883042|PMID:31328266|PMID:31850286|PMID:32359821|PMID:32461654|PMID:32703181|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33712733|PMID:33851121|PMID:33854215|PMID:34008892|PMID:34215756|PMID:34400539|PMID:35020912|PMID:35022790|PMID:35643372|PMID:36100708|PMID:36543213|PMID:37097554|PMID:37100867|PMID:38668984|PMID:40485705|PMID:7695699|PMID:8218237|PMID:8940267|PMID:9536098|PMID:9724608|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:783	end stage renal disease		ISO	RGD:1351504	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:12028435|PMID:14514738|PMID:15954103|PMID:19344236|PMID:19965530|PMID:21505094|PMID:23720012|PMID:24046192|PMID:25741868|PMID:27627812|PMID:28492532|PMID:29526710|PMID:30586318|PMID:30647093|PMID:33851121|PMID:34400539|PMID:37097554|PMID:7695699|PMID:8218237
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:784	chronic kidney disease		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:11223851|PMID:12028435|PMID:14514738|PMID:17396119|PMID:17576681|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:24046192|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28518168|PMID:28844315|PMID:29142990|PMID:29526701|PMID:29526710|PMID:29854973|PMID:29959198|PMID:30104322|PMID:30348286|PMID:30586318|PMID:30661074|PMID:30691124|PMID:31850286|PMID:32359821|PMID:32461654|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33854215|PMID:34008892|PMID:34215756|PMID:35020912|PMID:35022790|PMID:35643372|PMID:36100708|PMID:40485705|PMID:8940267|PMID:9536098|PMID:9724608|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9000104	Glomerular Diseases		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glomerulopathy	PMID:10094548|PMID:11223851|PMID:12028435|PMID:14514738|PMID:17396119|PMID:19344236|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:23720012|PMID:24046192|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27627812|PMID:28492532|PMID:28518168|PMID:28844315|PMID:29098738|PMID:29142990|PMID:29526701|PMID:29526710|PMID:29854973|PMID:30104322|PMID:30348286|PMID:30586318|PMID:30661074|PMID:30691124|PMID:31850286|PMID:32359821|PMID:32461654|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33854215|PMID:34008892|PMID:34215756|PMID:34225668|PMID:35020912|PMID:35022790|PMID:35643372|PMID:36100708|PMID:40485705|PMID:7695699|PMID:8218237|PMID:9724608|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9000363	Hematuria		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria	PMID:10561141|PMID:10752524|PMID:10862091|PMID:11223851|PMID:12028435|PMID:14514738|PMID:14604828|PMID:15044104|PMID:15347445|PMID:17396119|PMID:18083113|PMID:18616531|PMID:19344236|PMID:19728970|PMID:19919694|PMID:19965530|PMID:20130921|PMID:20301386|PMID:20378821|PMID:21332469|PMID:21505094|PMID:21688191|PMID:21848006|PMID:23144074|PMID:23720012|PMID:24046192|PMID:24077912|PMID:24130771|PMID:24304881|PMID:24359068|PMID:24470729|PMID:24759409|PMID:24854265|PMID:25741868|PMID:25869794|PMID:26346198|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27353043|PMID:27627812|PMID:28492532|PMID:28518168|PMID:28542346|PMID:28780565|PMID:28844315|PMID:29127259|PMID:29142990|PMID:29144512|PMID:29204651|PMID:29526701|PMID:29526710|PMID:29854973|PMID:30104322|PMID:30311386|PMID:30348286|PMID:30577881|PMID:30586318|PMID:30647093|PMID:30661074|PMID:30691124|PMID:30773290|PMID:31027891|PMID:31328266|PMID:31850286|PMID:32359821|PMID:32405592|PMID:32461654|PMID:32703181|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33712733|PMID:33854215|PMID:34008892|PMID:34215756|PMID:34693267|PMID:35020912|PMID:35022790|PMID:35643372|PMID:36100708|PMID:36938085|PMID:37100867|PMID:37495524|PMID:38668984|PMID:39430195|PMID:40485705|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8651296|PMID:8940267|PMID:9150741|PMID:9195222|PMID:9724608|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9000363	Hematuria	onset	IMP		D	RGD:329845598|PMID:34675305	20240118	RGD			
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9000727	Syncope		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9001542	Albuminuria		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Albuminuria	PMID:11223851|PMID:12028435|PMID:14514738|PMID:14604828|PMID:18083113|PMID:19919694|PMID:19965530|PMID:20130921|PMID:20301386|PMID:20378821|PMID:21848006|PMID:24046192|PMID:25741868|PMID:26467025|PMID:27627812|PMID:28492532|PMID:29144512|PMID:29204651|PMID:29526710|PMID:30586318|PMID:31027891|PMID:34693267|PMID:35020912|PMID:35643372|PMID:39430195|PMID:9150741
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9001733	Tinnitus		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:11223851|PMID:12028435|PMID:14514738|PMID:17396119|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:24046192|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28518168|PMID:28844315|PMID:29142990|PMID:29526701|PMID:29526710|PMID:29854973|PMID:30104322|PMID:30348286|PMID:30586318|PMID:30661074|PMID:30691124|PMID:31850286|PMID:32359821|PMID:32461654|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33854215|PMID:34008892|PMID:34215756|PMID:35020912|PMID:35022790|PMID:35643372|PMID:36100708|PMID:40485705|PMID:9724608|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9001934	Neonatal Sepsis		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal sepsis	PMID:10094548|PMID:12028435|PMID:14514738|PMID:19344236|PMID:19965530|PMID:23720012|PMID:24046192|PMID:25741868|PMID:27627812|PMID:28492532|PMID:29098738|PMID:34225668|PMID:7695699|PMID:8218237
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9003507	Premature Birth		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:10094548|PMID:12028435|PMID:14514738|PMID:17576681|PMID:19344236|PMID:19965530|PMID:23720012|PMID:24046192|PMID:25741868|PMID:27627812|PMID:28492532|PMID:29098738|PMID:29959198|PMID:34225668|PMID:7695699|PMID:8218237|PMID:8940267|PMID:9536098
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:10094548|PMID:10561141|PMID:11223851|PMID:14993485|PMID:15780079|PMID:21505094|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8648925|PMID:8940267
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11223851|PMID:12028435|PMID:14514738|PMID:17396119|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:24046192|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28844315|PMID:29142990|PMID:29526701|PMID:29526710|PMID:29854973|PMID:30104322|PMID:30311386|PMID:30348286|PMID:30586318|PMID:30661074|PMID:30691124|PMID:31850286|PMID:32359821|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33854215|PMID:34008892|PMID:34215756|PMID:35022790|PMID:35643372|PMID:36100708|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1351504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11223851|PMID:12028435|PMID:14514738|PMID:17396119|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:24046192|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28518168|PMID:28844315|PMID:29142990|PMID:29526701|PMID:29526710|PMID:29854973|PMID:30104322|PMID:30311386|PMID:30348286|PMID:30586318|PMID:30661074|PMID:30691124|PMID:31850286|PMID:32359821|PMID:32461654|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33854215|PMID:34008892|PMID:34215756|PMID:35020912|PMID:35022790|PMID:35643372|PMID:36100708|PMID:40485705|PMID:9724608|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9005549	Epithelioid Leiomyoma		ISO	RGD:1351504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17069596
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9005616	Micrognathism		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:12028435|PMID:14514738|PMID:19344236|PMID:19965530|PMID:21505094|PMID:23144074|PMID:23720012|PMID:24046192|PMID:24304881|PMID:25741868|PMID:27627812|PMID:28492532|PMID:30577881|PMID:30773290|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8651296|PMID:8940267|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:10094548|PMID:10561141|PMID:10752524|PMID:11223851|PMID:14514738|PMID:14993485|PMID:15780079|PMID:16199547|PMID:21505094|PMID:24033266|PMID:24854265|PMID:25741868|PMID:26467025|PMID:26809805|PMID:28492532|PMID:30773290|PMID:8648925|PMID:8940267|PMID:9195222|PMID:9848783
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9008681	Deafness		ISO	RGD:1351504	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: deafness	PMID:25741868
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565499	Col4a5	collagen type IV alpha 5 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:10094548|PMID:10561141|PMID:11223851|PMID:14993485|PMID:15780079|PMID:21505094|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27281700|PMID:28492532|PMID:8648925|PMID:8940267
1565500	Mt4	metallothionein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565500	Mt4	metallothionein 4	gene	DOID:557	kidney disease		ISO	RGD:1343695	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19921116
1565500	Mt4	metallothionein 4	gene	DOID:9008914	Lead Poisoning		ISO	RGD:1343695	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19921116
1565501	Vwc2l	von Willebrand factor C domain containing 2 like	gene	DOID:1324	lung cancer		ISO	RGD:2859445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565501	Vwc2l	von Willebrand factor C domain containing 2 like	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:2859445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:0060638	neonatal diabetes mellitus with congenital hypothyroidism		ISO	RGD:1348907	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:0060638	neonatal diabetes mellitus with congenital hypothyroidism		ISO	RGD:1348907	D	RGD:7240710	20130731	OMIM			
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:0060638	neonatal diabetes mellitus with congenital hypothyroidism		ISO	RGD:1348907	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM | ClinVar Annotator: match by term: Diabetes mellitus, neonatal, with congenital hypothyroidism | ClinVar Annotator: match by term: GLIS3-related condition | ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism	PMID:18263616|PMID:18414213|PMID:23856252|PMID:24033266|PMID:25741868|PMID:26893459|PMID:27899417|PMID:28444304|PMID:28492532|PMID:29146476|PMID:29992946|PMID:31415576|PMID:32425884|PMID:32693112|PMID:35394098|PMID:38051360
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:0060638	neonatal diabetes mellitus with congenital hypothyroidism		ISS	RGD:1557009	D	RGD:13592920	20230718	MouseDO		OMIM:610199	
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:1348907	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Permanent Neonatal Diabetes Mellitus	PMID:25741868
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:1115	sarcoma		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:28492532
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:12271	aniridia		ISO	RGD:1348907	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Congenital aniridia	PMID:25741868|PMID:26893459
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:1348907	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27064256
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:1909	melanoma		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1348907	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:630	genetic disease		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:9351	diabetes mellitus		ISO	RGD:1348907	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:18414213|PMID:25741868|PMID:27899417|PMID:28492532|PMID:29146476|PMID:29992946|PMID:31415576|PMID:32693112|PMID:35394098
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1348907	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22158537
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:9452	steatotic liver disease		ISO	RGD:1348907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:28492532
1565505	Glis3	GLIS family zinc finger 3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1348907	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430480
1565511	Septin12	septin 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565511	Septin12	septin 12	gene	DOID:0070178	spermatogenic failure 10		ISO	RGD:1604543	D	RGD:7240710	20140903	OMIM			
1565511	Septin12	septin 12	gene	DOID:0070178	spermatogenic failure 10		ISO	RGD:1604543	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 10	PMID:25741868
1565511	Septin12	septin 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565511	Septin12	septin 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1604543	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565514	Map7d3	MAP7 domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565514	Map7d3	MAP7 domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1606231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565514	Map7d3	MAP7 domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1606231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565514	Map7d3	MAP7 domain containing 3	gene	DOID:3070	high grade glioma		ISO	RGD:1606231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565514	Map7d3	MAP7 domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565514	Map7d3	MAP7 domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565514	Map7d3	MAP7 domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565518	Irx5	iroquois homeobox 5	gene	DOID:0050642	hypochromic microcytic anemia		ISO	RGD:1320389	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
1565518	Irx5	iroquois homeobox 5	gene	DOID:0050823	third-degree atrioventricular block		ISO	RGD:1320389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Third degree atrioventricular block	
1565518	Irx5	iroquois homeobox 5	gene	DOID:0081044	frontonasal dysplasia		ISO	RGD:1320389	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
1565518	Irx5	iroquois homeobox 5	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320389	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
1565518	Irx5	iroquois homeobox 5	gene	DOID:1115	sarcoma		ISO	RGD:1320389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565518	Irx5	iroquois homeobox 5	gene	DOID:11830	myopia		ISO	RGD:1320389	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
1565518	Irx5	iroquois homeobox 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320389	D	RGD:329950575|PMID:16753336	20230706	RGD		mRNA:increased expression:heart left ventricle (human)	
1565518	Irx5	iroquois homeobox 5	gene	DOID:13714	anodontia		ISO	RGD:1320389	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
1565518	Irx5	iroquois homeobox 5	gene	DOID:1400	lacrimal apparatus disease		ISO	RGD:1320389	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
1565518	Irx5	iroquois homeobox 5	gene	DOID:1682	congenital heart disease		ISO	RGD:1320389	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
1565518	Irx5	iroquois homeobox 5	gene	DOID:630	genetic disease		ISO	RGD:1320389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1565518	Irx5	iroquois homeobox 5	gene	DOID:850	lung disease		ISO	RGD:1320389	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21238641
1565518	Irx5	iroquois homeobox 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1320389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	
1565518	Irx5	iroquois homeobox 5	gene	DOID:9002589	Bone Fractures		ISO	RGD:1320389	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
1565518	Irx5	iroquois homeobox 5	gene	DOID:9006817	Hamamy Syndrome		ISO	RGD:1320389	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565518	Irx5	iroquois homeobox 5	gene	DOID:9006817	Hamamy Syndrome		ISO	RGD:1320389	D	RGD:7240710	20141015	OMIM			
1565518	Irx5	iroquois homeobox 5	gene	DOID:9006817	Hamamy Syndrome		ISO	RGD:1320389	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HAMAMY SYNDROME | ClinVar Annotator: match by term: Hamamy syndrome | ClinVar Annotator: match by term: IRX5-related condition	PMID:25741868|PMID:28492532
1565518	Irx5	iroquois homeobox 5	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320389	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
1565519	Prmt2	protein arginine methyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565519	Prmt2	protein arginine methyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565519	Prmt2	protein arginine methyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565519	Prmt2	protein arginine methyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1605435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565519	Prmt2	protein arginine methyltransferase 2	gene	DOID:2841	asthma		IEP		D	RGD:9491823|PMID:20423833	20140912	RGD		mRNA:increased expression:lung, spleen	
1565519	Prmt2	protein arginine methyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1605435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565519	Prmt2	protein arginine methyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605435	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565519	Prmt2	protein arginine methyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565519	Prmt2	protein arginine methyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565519	Prmt2	protein arginine methyltransferase 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1558167	D	RGD:11561325|PMID:27506785	20250326	RGD		mRNA:decreased expression:nucleus accumbens (mouse)	
1565519	Prmt2	protein arginine methyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565519	Prmt2	protein arginine methyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565522	Tmem132e	transmembrane protein 132E	gene	DOID:0111634	autosomal recessive nonsyndromic deafness 99		ISO	RGD:1603364	D	RGD:7240710	20190710	OMIM			
1565522	Tmem132e	transmembrane protein 132E	gene	DOID:0111634	autosomal recessive nonsyndromic deafness 99		ISO	RGD:1603364	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 99 | ClinVar Annotator: match by term: TMEM132E-related condition	PMID:25741868|PMID:26467025|PMID:28492532
1565522	Tmem132e	transmembrane protein 132E	gene	DOID:5041	esophageal cancer		ISO	RGD:1603364	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565522	Tmem132e	transmembrane protein 132E	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603364	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
1565523	Lsm11	LSM11, U7 small nuclear RNA associated	gene	DOID:1324	lung cancer		ISO	RGD:1354131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565523	Lsm11	LSM11, U7 small nuclear RNA associated	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565523	Lsm11	LSM11, U7 small nuclear RNA associated	gene	DOID:2394	ovarian cancer		ISO	RGD:1354131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1565523	Lsm11	LSM11, U7 small nuclear RNA associated	gene	DOID:9001117	Aicardi-Goutieres Syndrome 8		ISO	RGD:1354131	D	RGD:7240710	20210825	OMIM			
1565523	Lsm11	LSM11, U7 small nuclear RNA associated	gene	DOID:9001117	Aicardi-Goutieres Syndrome 8		ISO	RGD:1354131	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 | ClinVar Annotator: match by term: LSM11-related condition	
1565523	Lsm11	LSM11, U7 small nuclear RNA associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565533	Cfap97d1	CFAP97 domain containing 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:3458383	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1565535	Dusp9	dual specificity phosphatase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565535	Dusp9	dual specificity phosphatase 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565535	Dusp9	dual specificity phosphatase 9	gene	DOID:3275	thymoma		ISO	RGD:1345424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565536	Ccdc9b	coiled-coil domain containing 9B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565536	Ccdc9b	coiled-coil domain containing 9B	gene	DOID:1909	melanoma		ISO	RGD:1602266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565536	Ccdc9b	coiled-coil domain containing 9B	gene	DOID:3275	thymoma		ISO	RGD:1602266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565536	Ccdc9b	coiled-coil domain containing 9B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565536	Ccdc9b	coiled-coil domain containing 9B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565536	Ccdc9b	coiled-coil domain containing 9B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565536	Ccdc9b	coiled-coil domain containing 9B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1602722	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:1909	melanoma		ISO	RGD:1602722	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:3275	thymoma		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1602722	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602722	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:5419	schizophrenia		ISO	RGD:1602722	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
1565537	Sap30bp	SAP30 binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602722	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602722	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565537	Sap30bp	SAP30 binding protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1602722	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1565539	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:10283	prostate cancer		ISO	RGD:1349074	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1565539	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1349074	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565539	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565539	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565539	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565539	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565539	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1349074	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565539	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565539	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1349074	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19204719|PMID:9724608
1565539	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565539	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565539	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565539	Col24a1	collagen type XXIV alpha 1 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565542	Npm3	nucleophosmin/nucleoplasmin, 3	gene	DOID:1909	melanoma		ISO	RGD:1349032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565542	Npm3	nucleophosmin/nucleoplasmin, 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1349032	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1565542	Npm3	nucleophosmin/nucleoplasmin, 3	gene	DOID:4362	cervical cancer		ISO	RGD:1349032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565542	Npm3	nucleophosmin/nucleoplasmin, 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1349032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565542	Npm3	nucleophosmin/nucleoplasmin, 3	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1349032	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1565542	Npm3	nucleophosmin/nucleoplasmin, 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565545	Zfp865	zinc finger protein 865	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565545	Zfp865	zinc finger protein 865	gene	DOID:1324	lung cancer		ISO	RGD:1602066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565545	Zfp865	zinc finger protein 865	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565549	Pbrm1	polybromo 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1565549	Pbrm1	polybromo 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565549	Pbrm1	polybromo 1	gene	DOID:0060058	lymphoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565549	Pbrm1	polybromo 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565549	Pbrm1	polybromo 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565549	Pbrm1	polybromo 1	gene	DOID:1115	sarcoma		ISO	RGD:1605656	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565549	Pbrm1	polybromo 1	gene	DOID:1324	lung cancer		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565549	Pbrm1	polybromo 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:28082722|PMID:35101336
1565549	Pbrm1	polybromo 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1605656	D	RGD:8694154|PMID:23355908	20140725	RGD			
1565549	Pbrm1	polybromo 1	gene	DOID:1909	melanoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565549	Pbrm1	polybromo 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565549	Pbrm1	polybromo 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1565549	Pbrm1	polybromo 1	gene	DOID:3275	thymoma		ISO	RGD:1605656	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24974848
1565549	Pbrm1	polybromo 1	gene	DOID:3275	thymoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565549	Pbrm1	polybromo 1	gene	DOID:3495	extrahepatic bile duct adenocarcinoma	disease_progression	ISO	RGD:1605656	D	RGD:150340631|PMID:25536104	20210824	RGD			
1565549	Pbrm1	polybromo 1	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1605656	D	RGD:150340625|PMID:32195359	20210823	RGD			
1565549	Pbrm1	polybromo 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605656	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565549	Pbrm1	polybromo 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1605656	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691|PMID:23797736
1565549	Pbrm1	polybromo 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1605656	D	RGD:6907137|PMID:21654818	20121030	RGD			
1565549	Pbrm1	polybromo 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1605656	D	RGD:7240710	20210707	OMIM			
1565549	Pbrm1	polybromo 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565549	Pbrm1	polybromo 1	gene	DOID:4928	intrahepatic cholangiocarcinoma		ISO	RGD:1605656	D	RGD:150340628|PMID:27864835	20210823	RGD			
1565549	Pbrm1	polybromo 1	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1605656	D	RGD:9068941	20220708	RGD		protein:increased expression:intrahepatic bile duct (human)	PMID:30377796|REF_RGD_ID:152998946
1565549	Pbrm1	polybromo 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605656	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24185509
1565549	Pbrm1	polybromo 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565549	Pbrm1	polybromo 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605656	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565549	Pbrm1	polybromo 1	gene	DOID:5409	lung small cell carcinoma	disease_progression	ISO	RGD:1605656	D	RGD:127285383|PMID:29748005	20210823	RGD			
1565549	Pbrm1	polybromo 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565549	Pbrm1	polybromo 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565549	Pbrm1	polybromo 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565549	Pbrm1	polybromo 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1565549	Pbrm1	polybromo 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565549	Pbrm1	polybromo 1	gene	DOID:8778	Crohn's disease		ISO	RGD:1605656	D	RGD:150340627|PMID:28940253	20210823	RGD		mRNA:decreased expression:colon	
1565549	Pbrm1	polybromo 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565549	Pbrm1	polybromo 1	gene	DOID:9004616	Left Ventricular Hypertrophy		IEP		D	RGD:9586349|PMID:23702776	20141029	RGD		associated with Hypertension;protein:increased expression:heart left ventricle	
1565549	Pbrm1	polybromo 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565549	Pbrm1	polybromo 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605656	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868
1565549	Pbrm1	polybromo 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565549	Pbrm1	polybromo 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565549	Pbrm1	polybromo 1	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1605656	D	RGD:150340627|PMID:28940253	20210823	RGD			
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1605035	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation	
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:0112264	Woodhouse-Sakati syndrome		ISO	RGD:1605035	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:0112264	Woodhouse-Sakati syndrome		ISO	RGD:1605035	D	RGD:7240710	20130221	OMIM			
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:0112264	Woodhouse-Sakati syndrome		ISO	RGD:1605035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: WOODHOUSE-SAKATI SYNDROME | ClinVar Annotator: match by term: Woodhouse-Sakati syndrome	PMID:16199547|PMID:17576681|PMID:19026396|PMID:20507343|PMID:25326637|PMID:25741868|PMID:26612766|PMID:27489925|PMID:28492532|PMID:29178422|PMID:29546359|PMID:31347785|PMID:35876063|PMID:40235137|PMID:9536098
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:10534	stomach cancer		ISO	RGD:1605035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:1115	sarcoma		ISO	RGD:1605035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:3070	high grade glioma		ISO	RGD:1605035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1605035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:4362	cervical cancer		ISO	RGD:1605035	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:630	genetic disease		ISO	RGD:1605035	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:9007661	Dwarfism		ISO	RGD:1605035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1565551	Dcaf17	DDB1 and CUL4 associated factor 17	gene	DOID:9351	diabetes mellitus		ISO	RGD:1605035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes	PMID:25741868
1565556	Anks1b	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565556	Anks1b	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565556	Anks1b	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:1115	sarcoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565556	Anks1b	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:1324	lung cancer		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565556	Anks1b	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:1909	melanoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565556	Anks1b	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:3275	thymoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565556	Anks1b	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565556	Anks1b	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1602104	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565556	Anks1b	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565556	Anks1b	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565556	Anks1b	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565556	Anks1b	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:893	Wilson disease		ISO	RGD:1602104	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
1565556	Anks1b	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565556	Anks1b	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565557	Aplf	aprataxin and PNKP like factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565557	Aplf	aprataxin and PNKP like factor	gene	DOID:1909	melanoma		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565557	Aplf	aprataxin and PNKP like factor	gene	DOID:4362	cervical cancer		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565557	Aplf	aprataxin and PNKP like factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565557	Aplf	aprataxin and PNKP like factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1344091	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565557	Aplf	aprataxin and PNKP like factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565557	Aplf	aprataxin and PNKP like factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565557	Aplf	aprataxin and PNKP like factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565557	Aplf	aprataxin and PNKP like factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565558	Rspo1	R-spondin 1	gene	DOID:1324	lung cancer		ISO	RGD:1603515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565558	Rspo1	R-spondin 1	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1603515	D	RGD:11554173	20221213	CTD		CTD Direct Evidence: marker/mechanism	PMID:25581431
1565558	Rspo1	R-spondin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565558	Rspo1	R-spondin 1	gene	DOID:630	genetic disease		ISO	RGD:1603515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1565558	Rspo1	R-spondin 1	gene	DOID:9001360	Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal		ISO	RGD:1603515	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565558	Rspo1	R-spondin 1	gene	DOID:9001360	Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal		ISO	RGD:1603515	D	RGD:7240710	20170726	OMIM			
1565558	Rspo1	R-spondin 1	gene	DOID:9001360	Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal		ISO	RGD:1603515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL | ClinVar Annotator: match by term: RSPO1-related condition	PMID:25741868|PMID:28492532
1565558	Rspo1	R-spondin 1	gene	DOID:9004267	Palmoplantar Hyperkeratosis and True Hermaphroditism		ISO	RGD:1603515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM	
1565558	Rspo1	R-spondin 1	gene	DOID:9744	type 1 diabetes mellitus		IEP		D	RGD:597830031|PMID:30649980	20250224	RGD		mRNA:decreased expression:ventromedial nucleus of hypothalamus	
1565558	Rspo1	R-spondin 1	gene	DOID:9970	obesity		IEP		D	RGD:597830031|PMID:30649980	20250224	RGD		mRNA:decreased expression:ventromedial nucleus of hypothalamus	
1565561	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565561	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565561	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565561	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:13580	cholestasis		ISO	RGD:1322766	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
1565561	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565561	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565561	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565561	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565561	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565561	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565561	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1565561	Mboat1	membrane bound glycerophospholipid O-acyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565564	Krt90	keratin 90	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1620571	D	RGD:11554173	20221206	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1565570	Vsig1	V-set and immunoglobulin domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565570	Vsig1	V-set and immunoglobulin domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565570	Vsig1	V-set and immunoglobulin domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1347101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565570	Vsig1	V-set and immunoglobulin domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565570	Vsig1	V-set and immunoglobulin domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565570	Vsig1	V-set and immunoglobulin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565570	Vsig1	V-set and immunoglobulin domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1348081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:25741868
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:1657	ventricular septal defect		ISO	RGD:1348081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1348081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:1826	epilepsy		ISO	RGD:1348081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1348081	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:31834374
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:3302	chordoma		ISO	RGD:1348081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chordoma	
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:3565	meningioma		ISO	RGD:1348081	D	RGD:1600423|PMID:7731706	20070308	RGD		DNA:translocation	
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:3565	meningioma		ISO	RGD:1348081	D	RGD:1624321|PMID:16398473	20070508	RGD			
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1348081	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868|PMID:31834374
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1348081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:4586	familial meningioma		ISO	RGD:1348081	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:4586	familial meningioma		ISO	RGD:1348081	D	RGD:7240710	20230505	OMIM			
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:4586	familial meningioma		ISO	RGD:1348081	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to	PMID:25741868|PMID:31834374
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:630	genetic disease		ISO	RGD:1348081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26795593|PMID:28135719|PMID:28330790|PMID:31834374|PMID:31839203
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:8692	myeloid leukemia		ISO	RGD:1348081	D	RGD:1600424|PMID:7731705	20070308	RGD		acute myeloid leukemia, DNA:translocation	
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:9000547	CEBALID Syndrome		ISO	RGD:1348081	D	RGD:7240710	20200318	OMIM			
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:9000547	CEBALID Syndrome		ISO	RGD:1348081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEBALID SYNDROME | ClinVar Annotator: match by term: CEBALID syndrome | ClinVar Annotator: match by term: MN1 C-TERMINAL TRUNCATION SYNDROME | ClinVar Annotator: match by term: MN1-related condition	PMID:25741868|PMID:26795593|PMID:28135719|PMID:28330790|PMID:28492532|PMID:28518168|PMID:31834374|PMID:31839203|PMID:32461654|PMID:33351070|PMID:33351141
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1348081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348081	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1348081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Speech delay	PMID:31834374
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:31834374
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1348081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: facial asymmetry	PMID:31834374
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348081	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19822134
1565571	Mn1	MN1 proto-oncogene, transcriptional regulator	gene	DOID:9296	cleft lip		ISO	RGD:1348081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868
1565575	Setx	senataxin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565575	Setx	senataxin	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1347866	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	PMID:25741868
1565575	Setx	senataxin	gene	DOID:0050754	early-onset ataxia with oculomotor apraxia and hypoalbuminemia		ISO	RGD:1347866	D	RGD:8554872	20201006	ClinVar		ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	PMID:32488064
1565575	Setx	senataxin	gene	DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2		ISO	RGD:1347866	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565575	Setx	senataxin	gene	DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2		ISO	RGD:1347866	D	RGD:7240710	20130221	OMIM			
1565575	Setx	senataxin	gene	DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2		ISO	RGD:1347866	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia | ClinVar Annotator: match by term: SETX-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	PMID:14770181|PMID:15106121|PMID:15258781|PMID:15732101|PMID:16644229|PMID:17096168|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18058631|PMID:18414213|PMID:18625865|PMID:19377860|PMID:19569000|PMID:19696032|PMID:19744353|PMID:20540686|PMID:20981092|PMID:21190393|PMID:21438761|PMID:21576111|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23566282|PMID:23757202|PMID:23806086|PMID:23881933|PMID:23941260|PMID:24030952|PMID:24033266|PMID:24088041|PMID:24105744|PMID:24244371|PMID:24760770|PMID:24814856|PMID:25025039|PMID:25116135|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25326635|PMID:25353622|PMID:25382069|PMID:25525159|PMID:25558065|PMID:25741868|PMID:25802885|PMID:26068213|PMID:26257172|PMID:26467025|PMID:26601740|PMID:26633545|PMID:27013921|PMID:27165006|PMID:27790088|PMID:28130640|PMID:28245518|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29482223|PMID:29525178|PMID:29650794|PMID:30198223|PMID:30220148|PMID:30564185|PMID:30642639|PMID:31325016|PMID:31429931|PMID:31589614|PMID:31692161|PMID:31957062|PMID:32028661|PMID:32166880|PMID:32253937|PMID:32397312|PMID:32409511|PMID:32729724|PMID:33098801|PMID:33770234|PMID:33956305|PMID:34922620|PMID:35309588|PMID:9467005|PMID:9497266|PMID:9536098
1565575	Setx	senataxin	gene	DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2		ISO	RGD:1347866	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia | ClinVar Annotator: match by term: Ataxia-ocular apraxia-2 | ClinVar Annotator: match by term: SETX-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	PMID:14770181|PMID:15258781|PMID:15732101|PMID:16644229|PMID:16717225|PMID:17096168|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18414213|PMID:19377860|PMID:19569000|PMID:19696032|PMID:19744353|PMID:20540686|PMID:20981092|PMID:21190393|PMID:21438761|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23447461|PMID:23566282|PMID:23881933|PMID:23941260|PMID:24030952|PMID:24033266|PMID:24088041|PMID:24108619|PMID:24760770|PMID:24814856|PMID:25116135|PMID:25174650|PMID:25299611|PMID:25382069|PMID:25525159|PMID:25741868|PMID:25802885|PMID:25869998|PMID:26068213|PMID:26213621|PMID:26257172|PMID:26467025|PMID:26633545|PMID:27013921|PMID:27884173|PMID:28245518|PMID:28430856|PMID:28492532|PMID:28708278|PMID:28717666|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29482223|PMID:29525178|PMID:29650794|PMID:30052327|PMID:30198223|PMID:30220148|PMID:30564185|PMID:30822429|PMID:31325016|PMID:31429931|PMID:31589614|PMID:31692161|PMID:32028661|PMID:32397312|PMID:32409511|PMID:32536663|PMID:32987860|PMID:33057194|PMID:33098801|PMID:33414559|PMID:33956305|PMID:34922620|PMID:35052416|PMID:35872528|PMID:37223130|PMID:37638500|PMID:40068357|PMID:9536098
1565575	Setx	senataxin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565575	Setx	senataxin	gene	DOID:0050952	spastic ataxia		ISO	RGD:1347866	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28708278
1565575	Setx	senataxin	gene	DOID:0060058	lymphoma		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565575	Setx	senataxin	gene	DOID:0060196	amyotrophic lateral sclerosis type 4		ISO	RGD:1347866	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565575	Setx	senataxin	gene	DOID:0060196	amyotrophic lateral sclerosis type 4		ISO	RGD:1347866	D	RGD:7240710	20130221	OMIM			
1565575	Setx	senataxin	gene	DOID:0060196	amyotrophic lateral sclerosis type 4		ISO	RGD:1347866	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4 | ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES	PMID:14770181|PMID:15106121|PMID:16199547|PMID:16644229|PMID:16717225|PMID:17096168|PMID:17159128|PMID:17576681|PMID:19569000|PMID:19696032|PMID:19727998|PMID:19744353|PMID:20540686|PMID:20981092|PMID:21190393|PMID:21438761|PMID:21494555|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23447461|PMID:23941260|PMID:24030952|PMID:24033266|PMID:24108619|PMID:25116135|PMID:25174650|PMID:25299611|PMID:25382069|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25869998|PMID:26213621|PMID:26467025|PMID:26811093|PMID:27013921|PMID:27884173|PMID:28430856|PMID:28492532|PMID:28708278|PMID:28717666|PMID:29170628|PMID:29411640|PMID:29525178|PMID:29650794|PMID:30052327|PMID:30642639|PMID:31429931|PMID:31656689|PMID:31957062|PMID:32166880|PMID:32397312|PMID:32409511|PMID:32536663|PMID:32729724|PMID:32987860|PMID:33057194|PMID:33098801|PMID:33414559|PMID:33956305|PMID:34922620|PMID:35426160|PMID:35872528|PMID:36553628|PMID:37952009|PMID:9536098
1565575	Setx	senataxin	gene	DOID:0060196	amyotrophic lateral sclerosis type 4		ISS	RGD:1622872	D	RGD:13592920	20230718	MouseDO		OMIM:602433	
1565575	Setx	senataxin	gene	DOID:0111202	autosomal dominant distal hereditary motor neuronopathy 14		ISO	RGD:1347866	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Genetic motor neuron disease	PMID:24533459
1565575	Setx	senataxin	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1347866	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:15732101|PMID:16717225|PMID:19696032|PMID:25025039|PMID:28492532
1565575	Setx	senataxin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565575	Setx	senataxin	gene	DOID:1115	sarcoma		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565575	Setx	senataxin	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1347866	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Proximal spinal muscular atrophy	PMID:15106121|PMID:21494555|PMID:25741868|PMID:28492532
1565575	Setx	senataxin	gene	DOID:1389	polyneuropathy		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868|PMID:28492532
1565575	Setx	senataxin	gene	DOID:1909	melanoma		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565575	Setx	senataxin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565575	Setx	senataxin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347866	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:20981092|PMID:21190393|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23881933|PMID:23941260|PMID:25174650|PMID:25382069|PMID:25741868|PMID:26467025|PMID:27013921|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:31957062|PMID:32253937|PMID:9536098
1565575	Setx	senataxin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347866	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:20981092|PMID:21190393|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23881933|PMID:23941260|PMID:25174650|PMID:25382069|PMID:25741868|PMID:26467025|PMID:27013921|PMID:27165006|PMID:27487029|PMID:27790088|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:29525178|PMID:29650794|PMID:31957062|PMID:32253937|PMID:32397312|PMID:32409511|PMID:33770234|PMID:35309588|PMID:36515702|PMID:36549973|PMID:38137339|PMID:9536098
1565575	Setx	senataxin	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1347866	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17096168|PMID:20981092|PMID:21190393|PMID:21438761|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23447461|PMID:25174650|PMID:25382069|PMID:25741868|PMID:25802885|PMID:25869998|PMID:26213621|PMID:26467025|PMID:27013921|PMID:27884173|PMID:28430856|PMID:28492532|PMID:28717666|PMID:29525178|PMID:32397312|PMID:32409511|PMID:32987860|PMID:33414559
1565575	Setx	senataxin	gene	DOID:3275	thymoma		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565575	Setx	senataxin	gene	DOID:3310	atopic dermatitis		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dermatitis, atopic	
1565575	Setx	senataxin	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1347866	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:21190393|PMID:21438761|PMID:22088787|PMID:23129421|PMID:23447461|PMID:25382069|PMID:25741868|PMID:25802885|PMID:25869998|PMID:26213621|PMID:26467025|PMID:27884173|PMID:28430856|PMID:28492532|PMID:28717666|PMID:29525178|PMID:32397312|PMID:32409511|PMID:32987860|PMID:33414559
1565575	Setx	senataxin	gene	DOID:4362	cervical cancer		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565575	Setx	senataxin	gene	DOID:5041	esophageal cancer		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565575	Setx	senataxin	gene	DOID:543	dystonia		ISO	RGD:1347866	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:28492532
1565575	Setx	senataxin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565575	Setx	senataxin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565575	Setx	senataxin	gene	DOID:630	genetic disease		ISO	RGD:1347866	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14770181|PMID:15732101|PMID:16644229|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18058631|PMID:19569000|PMID:23129421|PMID:23881933|PMID:25025039|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25353622|PMID:25382069|PMID:25525159|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752306|PMID:27013921|PMID:27790088|PMID:28245518|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29650794|PMID:30220148|PMID:30564185|PMID:31069529|PMID:31429931|PMID:31589614|PMID:31692161|PMID:31957062|PMID:32028661|PMID:32166880|PMID:32186211|PMID:32253937|PMID:32397312|PMID:9536098
1565575	Setx	senataxin	gene	DOID:630	genetic disease		ISO	RGD:1347866	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17159128|PMID:25174650|PMID:25382069|PMID:25741868|PMID:26467025|PMID:27013921|PMID:28492532|PMID:28708278|PMID:29170628|PMID:29411640|PMID:29525178|PMID:29650794|PMID:31069529|PMID:31429931|PMID:32028661|PMID:35896380
1565575	Setx	senataxin	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1565575	Setx	senataxin	gene	DOID:870	neuropathy		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuropathy	PMID:19744353|PMID:25741868
1565575	Setx	senataxin	gene	DOID:9001722	Dysarthria		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:17576681|PMID:28492532|PMID:9536098
1565575	Setx	senataxin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:28492532
1565575	Setx	senataxin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565575	Setx	senataxin	gene	DOID:9004866	Ataxia		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1565575	Setx	senataxin	gene	DOID:9005077	Joint Instability		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
1565575	Setx	senataxin	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:28492532
1565575	Setx	senataxin	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868|PMID:28492532
1565575	Setx	senataxin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565575	Setx	senataxin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565575	Setx	senataxin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347866	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565575	Setx	senataxin	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:28492532
1565575	Setx	senataxin	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1347866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:25741868|PMID:28492532
1565577	Gmip	Gem-interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1344953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565577	Gmip	Gem-interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565577	Gmip	Gem-interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1344953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565577	Gmip	Gem-interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565577	Gmip	Gem-interacting protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565577	Gmip	Gem-interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1344953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565577	Gmip	Gem-interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1344953	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565577	Gmip	Gem-interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565577	Gmip	Gem-interacting protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1344953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:0060058	lymphoma		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:0112137	combined oxidative phosphorylation deficiency 51		ISO	RGD:1605991	D	RGD:7240710	20201111	OMIM			
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:0112137	combined oxidative phosphorylation deficiency 51		ISO	RGD:1605991	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 51 | ClinVar Annotator: match by term: PTCD3-related condition	PMID:25741868
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:1115	sarcoma		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:1324	lung cancer		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:3275	thymoma		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605991	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:630	genetic disease		ISO	RGD:1605991	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565582	Ptcd3	Pentatricopeptide repeat domain 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565583	Sack1d	scaffolding CK1 anchoring protein D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565583	Sack1d	scaffolding CK1 anchoring protein D	gene	DOID:1324	lung cancer		ISO	RGD:1347604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565583	Sack1d	scaffolding CK1 anchoring protein D	gene	DOID:1909	melanoma		ISO	RGD:1347604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565583	Sack1d	scaffolding CK1 anchoring protein D	gene	DOID:3068	glioblastoma		ISO	RGD:1347604	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35150198
1565583	Sack1d	scaffolding CK1 anchoring protein D	gene	DOID:3275	thymoma		ISO	RGD:1347604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565583	Sack1d	scaffolding CK1 anchoring protein D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565583	Sack1d	scaffolding CK1 anchoring protein D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565583	Sack1d	scaffolding CK1 anchoring protein D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347604	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1565584	Crebzf	CREB/ATF bZIP transcription factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565584	Crebzf	CREB/ATF bZIP transcription factor	gene	DOID:1324	lung cancer		ISO	RGD:1603614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565584	Crebzf	CREB/ATF bZIP transcription factor	gene	DOID:1909	melanoma		ISO	RGD:1603614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565584	Crebzf	CREB/ATF bZIP transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565585	Snx12	sorting nexin 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565585	Snx12	sorting nexin 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565585	Snx12	sorting nexin 12	gene	DOID:1115	sarcoma		ISO	RGD:1350610	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565585	Snx12	sorting nexin 12	gene	DOID:1324	lung cancer		ISO	RGD:1350610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565585	Snx12	sorting nexin 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1350610	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565585	Snx12	sorting nexin 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565585	Snx12	sorting nexin 12	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565585	Snx12	sorting nexin 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565589	Wdr26	WD repeat domain 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565589	Wdr26	WD repeat domain 26	gene	DOID:0050847	sleep apnea		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	
1565589	Wdr26	WD repeat domain 26	gene	DOID:0060058	lymphoma		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565589	Wdr26	WD repeat domain 26	gene	DOID:1059	intellectual disability		ISO	RGD:1348746	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1565589	Wdr26	WD repeat domain 26	gene	DOID:12128	pica disease		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pica	PMID:25741868
1565589	Wdr26	WD repeat domain 26	gene	DOID:1324	lung cancer		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565589	Wdr26	WD repeat domain 26	gene	DOID:13250	diarrhea		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	
1565589	Wdr26	WD repeat domain 26	gene	DOID:2340	craniosynostosis		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	
1565589	Wdr26	WD repeat domain 26	gene	DOID:2843	long QT syndrome		ISO	RGD:1348746	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1565589	Wdr26	WD repeat domain 26	gene	DOID:4362	cervical cancer		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565589	Wdr26	WD repeat domain 26	gene	DOID:5041	esophageal cancer		ISO	RGD:1348746	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565589	Wdr26	WD repeat domain 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565589	Wdr26	WD repeat domain 26	gene	DOID:630	genetic disease		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28518168|PMID:32461654
1565589	Wdr26	WD repeat domain 26	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565589	Wdr26	WD repeat domain 26	gene	DOID:9006821	Skraban-Deardorff Syndrome		ISO	RGD:1348746	D	RGD:7240710	20190315	OMIM			
1565589	Wdr26	WD repeat domain 26	gene	DOID:9006821	Skraban-Deardorff Syndrome		ISO	RGD:1348746	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: SKRABAN-DEARDORFF SYNDROME | ClinVar Annotator: match by term: Skraban-Deardorff syndrome | ClinVar Annotator: match by term: WDR26-related condition	PMID:25741868|PMID:25741869|PMID:28492532|PMID:36269129|PMID:39363971|PMID:40436861
1565589	Wdr26	WD repeat domain 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565589	Wdr26	WD repeat domain 26	gene	DOID:9008582	Developmental Disease		ISO	RGD:1348746	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1565589	Wdr26	WD repeat domain 26	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565591	Ski	Ski proto-oncogene	gene	DOID:0050817	Stargardt disease		ISO	RGD:1342955	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: STGD	PMID:25326637|PMID:28492532
1565591	Ski	Ski proto-oncogene	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1342955	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25741868|PMID:28492532
1565591	Ski	Ski proto-oncogene	gene	DOID:0060260	ptosis		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:23023332|PMID:23103230|PMID:24736733|PMID:25741868
1565591	Ski	Ski proto-oncogene	gene	DOID:0060321	umbilical hernia		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:23023332|PMID:23103230|PMID:24736733|PMID:25741868
1565591	Ski	Ski proto-oncogene	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1342955	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:17576681|PMID:19112531|PMID:19114989|PMID:20635359|PMID:23023332|PMID:23103230|PMID:23892090|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29168297|PMID:33436942|PMID:9536098
1565591	Ski	Ski proto-oncogene	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1342955	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:15979919|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:20635359|PMID:21699693|PMID:23023332|PMID:23103230|PMID:23892090|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29168297|PMID:29543232|PMID:31322791|PMID:33436942|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098
1565591	Ski	Ski proto-oncogene	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1342955	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098
1565591	Ski	Ski proto-oncogene	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1342955	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31754721|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098
1565591	Ski	Ski proto-oncogene	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1342955	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28252636|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31754721|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:38177409|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098
1565591	Ski	Ski proto-oncogene	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1342955	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:23892090|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25326637|PMID:25741868|PMID:27146836|PMID:28252636|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31602316|PMID:31754721|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:38177409|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098
1565591	Ski	Ski proto-oncogene	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1342955	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:23892090|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28252636|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31602316|PMID:31754721|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:38177409|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098
1565591	Ski	Ski proto-oncogene	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1342955	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25326637|PMID:25741868|PMID:27146836|PMID:28252636|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31754721|PMID:31980905|PMID:33416497|PMID:33436942|PMID:33824467|PMID:38177409|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098
1565591	Ski	Ski proto-oncogene	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:20981092|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326637|PMID:25741868|PMID:26854089|PMID:27146836|PMID:28252636|PMID:28492532|PMID:28750028|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31980905|PMID:32170002|PMID:33416497|PMID:37697026|PMID:9536098
1565591	Ski	Ski proto-oncogene	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1342955	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:20981092|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25741868|PMID:26854089|PMID:27146836|PMID:28252636|PMID:28492532|PMID:28750028|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31980905|PMID:32170002|PMID:33416497|PMID:37697026|PMID:9536098
1565591	Ski	Ski proto-oncogene	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1342955	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25741868|PMID:27146836|PMID:28252636|PMID:28492532|PMID:28750028|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31980905|PMID:32170002|PMID:33416497|PMID:33436942|PMID:37697026|PMID:9536098
1565591	Ski	Ski proto-oncogene	gene	DOID:0060811	syndromic X-linked intellectual disability Turner type		ISO	RGD:1342955	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE	PMID:25741868|PMID:28492532
1565591	Ski	Ski proto-oncogene	gene	DOID:0080074	neural tube defect		ISO	RGD:1342955	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9284043
1565591	Ski	Ski proto-oncogene	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	PMID:28492532
1565591	Ski	Ski proto-oncogene	gene	DOID:1059	intellectual disability		ISO	RGD:1342955	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868|PMID:28492532
1565591	Ski	Ski proto-oncogene	gene	DOID:10908	hydrocephalus		ISO	RGD:1342955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:33436942
1565591	Ski	Ski proto-oncogene	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1565591	Ski	Ski proto-oncogene	gene	DOID:11836	clubfoot		ISO	RGD:1342955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:33436942
1565591	Ski	Ski proto-oncogene	gene	DOID:12849	autistic disorder		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
1565591	Ski	Ski proto-oncogene	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1342955	D	RGD:8554872	20210518	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:25741868|PMID:28492532
1565591	Ski	Ski proto-oncogene	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1342955	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15979919|PMID:16327884|PMID:19112531|PMID:21699693|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29543232|PMID:31322791|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946
1565591	Ski	Ski proto-oncogene	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1342955	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15979919|PMID:16327884|PMID:19112531|PMID:21699693|PMID:24033266|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29543232|PMID:31322791|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946
1565591	Ski	Ski proto-oncogene	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1342955	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15979919|PMID:16327884|PMID:19112531|PMID:21699693|PMID:24033266|PMID:25741868|PMID:28252636|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29543232|PMID:31322791|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946
1565591	Ski	Ski proto-oncogene	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1342955	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15979919|PMID:16327884|PMID:19112531|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:28252636|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29543232|PMID:31322791|PMID:31754721|PMID:33416497|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946
1565591	Ski	Ski proto-oncogene	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1342955	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15979919|PMID:16327884|PMID:19112531|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:28252636|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29543232|PMID:31322791|PMID:31754721|PMID:33416497|PMID:33824467|PMID:35830949|PMID:7977351|PMID:8449506|PMID:8981946
1565591	Ski	Ski proto-oncogene	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1342955	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15979919|PMID:16327884|PMID:19112531|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25326637|PMID:25741868|PMID:28252636|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29543232|PMID:31322791|PMID:31754721|PMID:33416497|PMID:33824467|PMID:35830949|PMID:7977351|PMID:8449506|PMID:8981946
1565591	Ski	Ski proto-oncogene	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16327884|PMID:19112531|PMID:20981092|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26854089|PMID:28252636|PMID:28492532|PMID:28750028|PMID:29543232|PMID:31322791|PMID:33824467
1565591	Ski	Ski proto-oncogene	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1342955	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16327884|PMID:19112531|PMID:20981092|PMID:24033266|PMID:25741868|PMID:26854089|PMID:28252636|PMID:28492532|PMID:28750028|PMID:29543232|PMID:31322791|PMID:33824467
1565591	Ski	Ski proto-oncogene	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1342955	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16327884|PMID:19112531|PMID:24033266|PMID:25741868|PMID:28252636|PMID:28492532|PMID:28750028|PMID:29543232|PMID:31322791|PMID:33824467
1565591	Ski	Ski proto-oncogene	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:23023332|PMID:23103230|PMID:24736733|PMID:25741868
1565591	Ski	Ski proto-oncogene	gene	DOID:2394	ovarian cancer		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1565591	Ski	Ski proto-oncogene	gene	DOID:3627	aortic aneurysm		ISO	RGD:1342955	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23023332
1565591	Ski	Ski proto-oncogene	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1565591	Ski	Ski proto-oncogene	gene	DOID:4362	cervical cancer		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565591	Ski	Ski proto-oncogene	gene	DOID:630	genetic disease		ISO	RGD:1342955	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:33436942
1565591	Ski	Ski proto-oncogene	gene	DOID:674	cleft palate		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:23023332|PMID:23103230|PMID:24736733|PMID:25741868
1565591	Ski	Ski proto-oncogene	gene	DOID:9001031	Retrognathia		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:23023332|PMID:23103230|PMID:24736733|PMID:25741868|PMID:28492532
1565591	Ski	Ski proto-oncogene	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1342955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:33436942
1565591	Ski	Ski proto-oncogene	gene	DOID:9001510	Funnel Chest		ISO	RGD:1342955	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:23023332|PMID:23103230|PMID:24736733|PMID:25741868
1565591	Ski	Ski proto-oncogene	gene	DOID:9003133	Hypertelorism		ISO	RGD:1342955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:33436942
1565591	Ski	Ski proto-oncogene	gene	DOID:9003279	Joint Dislocations		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	PMID:25741868
1565591	Ski	Ski proto-oncogene	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1342955	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:23023332|PMID:25363760|PMID:25741868|PMID:33416497
1565591	Ski	Ski proto-oncogene	gene	DOID:9004538	Hearing Loss		ISO	RGD:1342955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:33436942
1565591	Ski	Ski proto-oncogene	gene	DOID:9005004	Musculoskeletal Abnormalities		ISO	RGD:1342955	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9284043
1565591	Ski	Ski proto-oncogene	gene	DOID:9005077	Joint Instability		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1565591	Ski	Ski proto-oncogene	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1565591	Ski	Ski proto-oncogene	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:33436942
1565591	Ski	Ski proto-oncogene	gene	DOID:9005616	Micrognathism		ISO	RGD:1342955	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:33436942
1565591	Ski	Ski proto-oncogene	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1342955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:25741868
1565591	Ski	Ski proto-oncogene	gene	DOID:9007185	Shprintzen-Goldberg Craniosynostosis		ISO	RGD:1342955	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23023332
1565591	Ski	Ski proto-oncogene	gene	DOID:9007185	Shprintzen-Goldberg Craniosynostosis		ISO	RGD:1342955	D	RGD:7240710	20130731	OMIM			
1565591	Ski	Ski proto-oncogene	gene	DOID:9007185	Shprintzen-Goldberg Craniosynostosis		ISO	RGD:1342955	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28252636|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31754721|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098
1565591	Ski	Ski proto-oncogene	gene	DOID:9007185	Shprintzen-Goldberg Craniosynostosis		ISO	RGD:1342955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Marfanoid craniosynostosis syndrome | ClinVar Annotator: match by term: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | ClinVar Annotator: match by term: SKI-related condition | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:20981092|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25741868|PMID:26854089|PMID:27146836|PMID:28252636|PMID:28492532|PMID:28750028|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31754721|PMID:31980905|PMID:32170002|PMID:33416497|PMID:33436942|PMID:33824467|PMID:37697026|PMID:38177409|PMID:9536098
1565591	Ski	Ski proto-oncogene	gene	DOID:9007185	Shprintzen-Goldberg Craniosynostosis		ISO	RGD:1342955	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Marfanoid craniosynostosis syndrome | ClinVar Annotator: match by term: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | ClinVar Annotator: match by term: SKI-related condition | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25741868|PMID:27146836|PMID:28252636|PMID:28492532|PMID:28750028|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31754721|PMID:31980905|PMID:32170002|PMID:33416497|PMID:33436942|PMID:37697026|PMID:38177409|PMID:9536098
1565591	Ski	Ski proto-oncogene	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:28492532|PMID:33436942
1565591	Ski	Ski proto-oncogene	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:23023332|PMID:23103230|PMID:24736733|PMID:25741868
1565591	Ski	Ski proto-oncogene	gene	DOID:9008520	Chronic Pain		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic pain	PMID:25741868
1565591	Ski	Ski proto-oncogene	gene	DOID:9008617	Lethargy		ISO	RGD:1342955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:33436942
1565591	Ski	Ski proto-oncogene	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1342955	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9284043
1565591	Ski	Ski proto-oncogene	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:23023332|PMID:23103230|PMID:24736733|PMID:25741868
1565591	Ski	Ski proto-oncogene	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1342955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:33436942
1565591	Ski	Ski proto-oncogene	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342955	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565591	Ski	Ski proto-oncogene	gene	DOID:930	orbital disease		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:23023332|PMID:23103230|PMID:24736733|PMID:25741868
1565591	Ski	Ski proto-oncogene	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1342955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:28492532
1565591	Ski	Ski proto-oncogene	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1342955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25741868|PMID:33436942
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:0050776	non-syndromic X-linked intellectual disability		ISO	RGD:1343236	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: non-syndromic X-linked intellectual disability	PMID:25741868
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:0060058	lymphoma		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:0060260	ptosis		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:0060320	inguinal hernia		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:0060321	umbilical hernia		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:0060811	syndromic X-linked intellectual disability Turner type		ISO	RGD:1343236	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE	PMID:25741868
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:0080984	X-linked intellectual developmental disorder 109		ISO	RGD:1343236	D	RGD:7240710	20210421	OMIM			
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:0080984	X-linked intellectual developmental disorder 109		ISO	RGD:1343236	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AFF2-related condition | ClinVar Annotator: match by term: FRAXE Syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109	PMID:18414213|PMID:25741868|PMID:28492532
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:0111428	essential tremor 1		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:1059	intellectual disability		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:10907	microcephaly		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:11193	syndactyly		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:25741868
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:12849	autistic disorder		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: autism	PMID:25741868
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:14261	fragile X syndrome		ISO	RGD:1343236	D	RGD:11554173	20210429	CTD		CTD Direct Evidence: marker/mechanism	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:1826	epilepsy		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:1909	melanoma		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:2234	focal epilepsy		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343236	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:540	strabismus		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1343236	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:630	genetic disease		ISO	RGD:1343236	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:6364	migraine		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:674	cleft palate		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:8927	learning disability		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:9000343	Vision Disorders		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:9000991	SULEIMAN-EL-HATTAB SYNDROME		ISO	RGD:1343236	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Suleiman-El-Hattab syndrome	PMID:25741868
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:9004507	Hirsutism		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:39615735
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:9007722	Myoclonus		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:9007738	Broca Aphasia		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive aphasia	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:9008268	Enuresis		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565592	Aff2	ALF transcription elongation factor 2	gene	DOID:930	orbital disease		ISO	RGD:1343236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	
1565593	Cdk17	cyclin-dependent kinase 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565593	Cdk17	cyclin-dependent kinase 17	gene	DOID:10534	stomach cancer		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565593	Cdk17	cyclin-dependent kinase 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565593	Cdk17	cyclin-dependent kinase 17	gene	DOID:1909	melanoma		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565593	Cdk17	cyclin-dependent kinase 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565593	Cdk17	cyclin-dependent kinase 17	gene	DOID:2377	multiple sclerosis		ISO	RGD:1343326	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
1565593	Cdk17	cyclin-dependent kinase 17	gene	DOID:4362	cervical cancer		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565593	Cdk17	cyclin-dependent kinase 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565593	Cdk17	cyclin-dependent kinase 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565593	Cdk17	cyclin-dependent kinase 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565593	Cdk17	cyclin-dependent kinase 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565593	Cdk17	cyclin-dependent kinase 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565596	H1f10	H1.10 linker histone	gene	DOID:0080600	COVID-19		ISO	RGD:1354284	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1565596	H1f10	H1.10 linker histone	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1620558	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1565596	H1f10	H1.10 linker histone	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1620558	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1565601	Drc7	dynein regulatory complex subunit 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604275	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565601	Drc7	dynein regulatory complex subunit 7	gene	DOID:1909	melanoma		ISO	RGD:1604275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565601	Drc7	dynein regulatory complex subunit 7	gene	DOID:4362	cervical cancer		ISO	RGD:1604275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565601	Drc7	dynein regulatory complex subunit 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1604275	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565601	Drc7	dynein regulatory complex subunit 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565601	Drc7	dynein regulatory complex subunit 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565601	Drc7	dynein regulatory complex subunit 7	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1565601	Drc7	dynein regulatory complex subunit 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565601	Drc7	dynein regulatory complex subunit 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0050581	brachydactyly		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322449	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0060320	inguinal hernia		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0060321	umbilical hernia		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0070445	early-onset dystonia and/or spastic paraplegia		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0080074	neural tube defect		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neural tube defect	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1322449	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0080833	laryngomalacia		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0080918	polymicrogyria		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0081226	autosomal recessive intellectual developmental disorder 65		ISO	RGD:1322449	D	RGD:7240710	20190315	OMIM			
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0081226	autosomal recessive intellectual developmental disorder 65		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65 | ClinVar Annotator: match by term: KDM5B-related condition	PMID:25741868|PMID:28492532|PMID:29276005|PMID:30217758|PMID:30409806|PMID:31133750|PMID:36368308
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1322449	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1322449	D	RGD:9587744|PMID:18048344	20141016	RGD		mRNA:increased expression:prostate gland (human)	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:10534	stomach cancer		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:1059	intellectual disability		ISO	RGD:1322449	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:1059	intellectual disability		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:10908	hydrocephalus		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322449	D	RGD:9587778|PMID:20226085	20141017	RGD		mRNA:increased expression:urinary bladder (human)	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:1115	sarcoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:11714	gestational diabetes		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:12849	autistic disorder		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:28492532
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:13209	right bundle branch block		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Right bundle branch block	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:1324	lung cancer		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:13620	patent foramen ovale		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:13938	amenorrhea		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amenorrhea	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:1612	breast cancer	treatment	ISO	RGD:1322449	D	RGD:9587774|PMID:21369698	20141017	RGD		human gene in a mouse model	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:1657	ventricular septal defect		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:1826	epilepsy		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:1909	melanoma		ISO	RGD:1322449	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:1969	cerebral palsy		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:3070	high grade glioma		ISO	RGD:1322449	D	RGD:13702126|PMID:25450384	20180717	RGD			
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:3070	high grade glioma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:1322449	D	RGD:13702126|PMID:25450384	20180717	RGD			
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:3275	thymoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1322449	D	RGD:9587776|PMID:22534467	20141017	RGD		protein:increased expression:esophageal mucosa, cytoplasm (human)	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:4362	cervical cancer		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:4702	mongolian spot		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:480	movement disease		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:5041	esophageal cancer		ISO	RGD:1322449	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:540	strabismus		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:1557118	D	RGD:329901769|PMID:36481938	20230623	RGD			
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:6039	uveal melanoma	severity	ISO	RGD:1322449	D	RGD:9587775|PMID:22669717	20141017	RGD		protein:increased expression:uvea (human)	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:630	genetic disease		ISO	RGD:1322449	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27214403|PMID:28492532|PMID:31158747|PMID:32368696
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1557118	D	RGD:329955443|PMID:30172777	20230712	RGD		associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse)	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:674	cleft palate		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:8488	polyhydramnios		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1322449	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9000495	Tremor		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9000727	Syncope		ISO	RGD:1322449	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:28492532
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9000892	Fetal Distress		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal distress	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9001733	Tinnitus		ISO	RGD:1322449	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322449	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1322449	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25043185
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9003539	Hyperacusis		ISO	RGD:1322449	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322449	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: complex neurodevelopmental disorder with motor features	PMID:25741868|PMID:28492532|PMID:29276005|PMID:30217758|PMID:30409806|PMID:35468861|PMID:36350923|PMID:37231097|PMID:39202393
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9004865	Nuchal Cord		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nuchal cord	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9005077	Joint Instability		ISO	RGD:1322449	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9006617	Fatigue		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9007573	Flatfoot		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9007661	Dwarfism		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28554332|PMID:29276005|PMID:30217758|PMID:30409806|PMID:39202393
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9007736	Vertigo		ISO	RGD:1322449	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9008443	Colorectal Neoplasms	severity	ISO	RGD:1322449	D	RGD:9587777|PMID:23354547	20141017	RGD			
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9008582	Developmental Disease		ISO	RGD:1322449	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:1322449	D	RGD:9587743|PMID:10336460	20141016	RGD		mRNA:increased expression:breast (human)	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9256	colorectal cancer		ISO	RGD:1322449	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1565602	Kdm5b	lysine demethylase 5B	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1322449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1565606	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:0060058	lymphoma		ISO	RGD:1602845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565606	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:4362	cervical cancer		ISO	RGD:1602845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565606	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565606	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565606	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565606	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:9000918	Disease Progression		ISO	RGD:1602845	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:34931434
1565606	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1602845	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:34931434
1565606	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1602845	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:34931434
1565606	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565606	Sack1a	scaffolding CK1 anchoring protein A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565609	Fgd6	FYVE, RhoGEF and PH domain containing 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565609	Fgd6	FYVE, RhoGEF and PH domain containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565609	Fgd6	FYVE, RhoGEF and PH domain containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1319292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565609	Fgd6	FYVE, RhoGEF and PH domain containing 6	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:1319292	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27089177
1565609	Fgd6	FYVE, RhoGEF and PH domain containing 6	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1319292	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
1565609	Fgd6	FYVE, RhoGEF and PH domain containing 6	gene	DOID:1909	melanoma		ISO	RGD:1319292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565609	Fgd6	FYVE, RhoGEF and PH domain containing 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565609	Fgd6	FYVE, RhoGEF and PH domain containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1319292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565609	Fgd6	FYVE, RhoGEF and PH domain containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565609	Fgd6	FYVE, RhoGEF and PH domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565609	Fgd6	FYVE, RhoGEF and PH domain containing 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565609	Fgd6	FYVE, RhoGEF and PH domain containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565610	Morc1	MORC family CW-type zinc finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565610	Morc1	MORC family CW-type zinc finger 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565610	Morc1	MORC family CW-type zinc finger 1	gene	DOID:1115	sarcoma		ISO	RGD:1321422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565610	Morc1	MORC family CW-type zinc finger 1	gene	DOID:1595	melancholic depression		ISS	RGD:1620107	D	RGD:13592920	20220811	MouseDO		OMIM:608516	
1565610	Morc1	MORC family CW-type zinc finger 1	gene	DOID:1909	melanoma		ISO	RGD:1321422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565610	Morc1	MORC family CW-type zinc finger 1	gene	DOID:3275	thymoma		ISO	RGD:1321422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565610	Morc1	MORC family CW-type zinc finger 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565610	Morc1	MORC family CW-type zinc finger 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565610	Morc1	MORC family CW-type zinc finger 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1565610	Morc1	MORC family CW-type zinc finger 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565610	Morc1	MORC family CW-type zinc finger 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565613	Bpifb3	BPI fold containing family B, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565615	Trim52	tripartite motif-containing 52	gene	DOID:1324	lung cancer		ISO	RGD:1347364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565615	Trim52	tripartite motif-containing 52	gene	DOID:4362	cervical cancer		ISO	RGD:1347364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565615	Trim52	tripartite motif-containing 52	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:10534	stomach cancer		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:1115	sarcoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:1324	lung cancer		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:1909	melanoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:3275	thymoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:4362	cervical cancer		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1349038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565616	Dnaaf9	dynein axonemal assembly factor 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565619	Cep120	centrosomal protein 120	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565619	Cep120	centrosomal protein 120	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1601819	D	RGD:11554173	20171024	CTD		CTD Direct Evidence: marker/mechanism	
1565619	Cep120	centrosomal protein 120	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:0080277	Joubert syndrome 31		ISO	RGD:1601819	D	RGD:7240710	20190315	OMIM			
1565619	Cep120	centrosomal protein 120	gene	DOID:0080277	Joubert syndrome 31		ISO	RGD:1601819	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CEP120-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 31 | ClinVar Annotator: match by term: Joubert syndrome 31	PMID:17576681|PMID:25741868|PMID:27208211|PMID:28492532|PMID:9536098
1565619	Cep120	centrosomal protein 120	gene	DOID:0110093	short-rib thoracic dysplasia 13 with or without polydactyly		ISO	RGD:1601819	D	RGD:7240710	20170412	OMIM			
1565619	Cep120	centrosomal protein 120	gene	DOID:0110093	short-rib thoracic dysplasia 13 with or without polydactyly		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:25251415|PMID:25361962|PMID:25741868|PMID:27208211|PMID:28492532|PMID:29847808|PMID:30866059|PMID:30988386|PMID:9536098
1565619	Cep120	centrosomal protein 120	gene	DOID:10488	imperforate anus		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:10534	stomach cancer		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:1115	sarcoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565619	Cep120	centrosomal protein 120	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:1657	ventricular septal defect		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:1909	melanoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565619	Cep120	centrosomal protein 120	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565619	Cep120	centrosomal protein 120	gene	DOID:3275	thymoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565619	Cep120	centrosomal protein 120	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565619	Cep120	centrosomal protein 120	gene	DOID:4362	cervical cancer		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565619	Cep120	centrosomal protein 120	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:5041	esophageal cancer		ISO	RGD:1601819	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565619	Cep120	centrosomal protein 120	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:630	genetic disease		ISO	RGD:1601819	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:674	cleft palate		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565619	Cep120	centrosomal protein 120	gene	DOID:8488	polyhydramnios		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:9003133	Hypertelorism		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:9004507	Hirsutism		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:9005616	Micrognathism		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565619	Cep120	centrosomal protein 120	gene	DOID:9007661	Dwarfism		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1565619	Cep120	centrosomal protein 120	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565619	Cep120	centrosomal protein 120	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565630	Zdhhc24	zDHHC palmitoyltransferase 24	gene	DOID:3070	high grade glioma		ISO	RGD:1602172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565630	Zdhhc24	zDHHC palmitoyltransferase 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565630	Zdhhc24	zDHHC palmitoyltransferase 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565630	Zdhhc24	zDHHC palmitoyltransferase 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565632	Prrc1	proline-rich coiled-coil 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565632	Prrc1	proline-rich coiled-coil 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565632	Prrc1	proline-rich coiled-coil 1	gene	DOID:1115	sarcoma		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565632	Prrc1	proline-rich coiled-coil 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565632	Prrc1	proline-rich coiled-coil 1	gene	DOID:3275	thymoma		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565632	Prrc1	proline-rich coiled-coil 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1565632	Prrc1	proline-rich coiled-coil 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565632	Prrc1	proline-rich coiled-coil 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565632	Prrc1	proline-rich coiled-coil 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565632	Prrc1	proline-rich coiled-coil 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565632	Prrc1	proline-rich coiled-coil 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565641	Rbis	ribosomal biogenesis factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565641	Rbis	ribosomal biogenesis factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565641	Rbis	ribosomal biogenesis factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565641	Rbis	ribosomal biogenesis factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:0050567	orofacial cleft		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:0050581	brachydactyly		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:23621943|PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:0050889	non-syndromic intellectual disability		ISO	RGD:1606024	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Non-syndromic intellectual disability	PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1606024	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:0111358	Floating-Harbor syndrome		ISO	RGD:1606024	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:0111358	Floating-Harbor syndrome		ISO	RGD:1606024	D	RGD:7240710	20141015	OMIM			
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:0111358	Floating-Harbor syndrome		ISO	RGD:1606024	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FLOATING-HARBOR SYNDROME | ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition	PMID:11522779|PMID:16199547|PMID:18414213|PMID:20358590|PMID:22265015|PMID:22965468|PMID:23193612|PMID:23621943|PMID:24970356|PMID:25433523|PMID:25590979|PMID:25741868|PMID:27208210|PMID:28492532|PMID:30138938|PMID:31200758|PMID:31715605|PMID:32109418|PMID:33909990|PMID:35904121|PMID:38116086
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:10534	stomach cancer		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:1059	intellectual disability		ISO	RGD:1606024	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:32581362
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:10907	microcephaly		ISO	RGD:1606024	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:1115	sarcoma		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:12849	autistic disorder		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:12859	choreatic disease		ISO	RGD:1606024	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868|PMID:28492532|PMID:33909990
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:1682	congenital heart disease		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:1826	epilepsy		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: seizure	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:1826	epilepsy		ISO	RGD:1606024	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	PMID:25741868|PMID:28492532|PMID:33909990
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:1827	generalized epilepsy		ISO	RGD:1606024	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25433523|PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:1909	melanoma		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:4362	cervical cancer		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1606024	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:630	genetic disease		ISO	RGD:1606024	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23193612|PMID:23621943|PMID:25741868|PMID:28492532|PMID:30138938|PMID:32109418|PMID:35904121|PMID:38116086
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:674	cleft palate		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:23621943|PMID:25741868|PMID:28492532|PMID:33909990
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1606024	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25433523|PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606024	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25433523|PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9003137	Photophobia		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9003766	46, XY Disorders of Sex Development		ISO	RGD:1606024	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 46 XY differences of sex development	PMID:25741868|PMID:28492532
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9004230	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1606024	D	RGD:7240710	20220209	OMIM			
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9004230	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	PMID:16199547|PMID:25741868|PMID:27208210|PMID:28492532|PMID:33909990
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606024	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606024	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:33909990
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9004507	Hirsutism		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:23621943|PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606024	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:23621943|PMID:25741868|PMID:28492532|PMID:33909990
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9004866	Ataxia		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9005077	Joint Instability		ISO	RGD:1606024	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:23621943|PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606024	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1606024	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23621943|PMID:25433523|PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23621943|PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:23621943|PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9008582	Developmental Disease		ISO	RGD:1606024	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565642	Srcap	Snf2-related CREBBP activator protein	gene	DOID:9296	cleft lip		ISO	RGD:1606024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868|PMID:28492532|PMID:33909990
1565643	Bmx	BMX non-receptor tyrosine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565643	Bmx	BMX non-receptor tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:1605440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565643	Bmx	BMX non-receptor tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565643	Bmx	BMX non-receptor tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:0050865	tongue squamous cell carcinoma	disease_progression	ISO	RGD:1344695	D	RGD:8661665|PMID:21689966	20140611	RGD			
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1344695	D	RGD:597538586|PMID:30981761	20250129	RGD		protein:increased expression:oral epithelium	
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:0081292	traumatic brain injury	treatment	IEP		D	RGD:597538582|PMID:26296359	20250129	RGD			
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:0111801	syndromic microphthalmia 3		ISO	RGD:1344695	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:0111801	syndromic microphthalmia 3		ISO	RGD:1344695	D	RGD:7240710	20130221	OMIM			
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:10811	nasal cavity cancer		ISO	RGD:1344695	D	RGD:8661654|PMID:23544055	20140611	RGD		DNA:amplification	
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344695	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:29396848
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1344695	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26343384
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:12528	lesion of sciatic nerve		IEP		D	RGD:407985733|PMID:32029747	20250129	RGD		mRNA,protein:increased expression:sciatic nerve	
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:1574	alcohol use disorder		IEP		D	RGD:401938665|PMID:30277635	20231220	RGD		mRNA:decreased expression:hippocampus (rat)	
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1344695	D	RGD:8661657|PMID:22832207	20140611	RGD			
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1344695	D	RGD:8661663|PMID:21822303	20140611	RGD			
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:1612	breast cancer	treatment	ISO	RGD:1344695	D	RGD:8661656|PMID:22561374	20140611	RGD			
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1344695	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19801978
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1344695	D	RGD:8661666|PMID:23518916	20140611	RGD		protein:increased expression:mammalian vulva, epithelium	
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:1344695	D	RGD:8661664|PMID:21410764	20140611	RGD			
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:224	transient cerebral ischemia		IEP		D	RGD:597538583|PMID:26607632	20250129	RGD		protein:increased expression:hippocampus :	
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:2377	multiple sclerosis		ISO	RGD:1344695	D	RGD:597538585|PMID:26290228	20250129	RGD			
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1344695	D	RGD:8661672|PMID:22899292	20140612	RGD			
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:3347	osteosarcoma		ISO	RGD:1344695	D	RGD:11554173	20220607	CTD		CTD Direct Evidence: marker/mechanism	PMID:34508303
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1344695	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:19801978
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1344695	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:25184679
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1344695	D	RGD:152998978|PMID:31687280	20220714	RGD		mRNA:altered expression:liver (human)	
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1344695	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:6000	congestive heart failure		IMP		D	RGD:155882552|PMID:34321385	20230130	RGD			
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:8466	retinal degeneration		IEP		D	RGD:597538544|PMID:31933849	20250128	RGD		protein:increased expression:retina	
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:8618	oral cavity cancer	ameliorates	ISO	RGD:1344695	D	RGD:597538586|PMID:30981761	20250129	RGD			
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:8661675|PMID:23169458	20140612	RGD			
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1344695	D	RGD:8661670|PMID:24382260	20140612	RGD		associated with Breast Neoplasms	
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9002049	Anophthalmia		ISO	RGD:1344695	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532573
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9002049	Anophthalmia		ISO	RGD:1344695	D	RGD:1599088|PMID:12612584	20070116	RGD		DNA:nonsense mutations: :multiple	
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344695	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9004866	Ataxia		ISO	RGD:1344695	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:29732603
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1344695	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1344695	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19801978
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:8661677|PMID:23828673	20140612	RGD			
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9007102	Myocardial Ischemia		IMP		D	RGD:155882552|PMID:34321385	20230130	RGD			
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1344695	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935819
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9007702	Carcinogenesis	treatment	IEP		D	RGD:597538542|PMID:37259369	20250128	RGD		associated with diethylnitrosamine (DEN)-induced lung carcinogenesis	
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9007920	Thoracic Neoplasms		ISO	RGD:1344695	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26343384
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1344695	D	RGD:8661660|PMID:19921648	20140611	RGD		DNA:mutations: :multiple	
1565646	Sox2	SRY-box transcription factor 2	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1344695	D	RGD:8661661|PMID:19471311	20140611	RGD		DNA:missense mutation: :p.D123G (human)	
1565652	Frmpd2	FERM and PDZ domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565652	Frmpd2	FERM and PDZ domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565652	Frmpd2	FERM and PDZ domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1349524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565652	Frmpd2	FERM and PDZ domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565652	Frmpd2	FERM and PDZ domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349524	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565652	Frmpd2	FERM and PDZ domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565662	Mageb6	MAGE family member B6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565662	Mageb6	MAGE family member B6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1346895	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19675306
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1346895	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: SIEWERT SYNDROME | ClinVar Annotator: match by term: Siewert syndrome	PMID:11713099|PMID:16858015|PMID:18434704|PMID:18492703|PMID:21143860|PMID:22416021|PMID:24033266|PMID:24498942|PMID:24912412|PMID:25741868|PMID:28152038|PMID:28492532|PMID:29363216|PMID:31130284|PMID:31213628|PMID:31589614|PMID:33032373|PMID:34277212|PMID:35626283|PMID:36809189|PMID:38589703|PMID:39462806
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:0050144	Kartagener syndrome		ISS	RGD:1556874	D	RGD:13592920	20230718	MouseDO			
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:0050144	Kartagener syndrome	susceptibility	ISO	RGD:1346895	D	RGD:1601083|PMID:11231901	20070405	RGD		DNA:missense mutation, insertion, deletion:exon, intron:p.G515S	
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1556874	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1346895	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:0110594	primary ciliary dyskinesia 1		ISO	RGD:1346895	D	RGD:7240710	20200226	OMIM			
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:0110594	primary ciliary dyskinesia 1		ISO	RGD:1346895	D	RGD:8554872	20240305	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DNAI1-related condition	PMID:11231901|PMID:16858015|PMID:17576681|PMID:19300481|PMID:21143860|PMID:25741868|PMID:25802884|PMID:28492532|PMID:30868567|PMID:31772028|PMID:33715250|PMID:9536098
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:0110594	primary ciliary dyskinesia 1		ISO	RGD:1346895	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DNAI1-related condition	PMID:11713099|PMID:16858015|PMID:17576681|PMID:18434704|PMID:24033266|PMID:25741868|PMID:25802884|PMID:28152038|PMID:28492532|PMID:29363216|PMID:31130284|PMID:31213628|PMID:31589614|PMID:31772028|PMID:32502479|PMID:33032373|PMID:33760720|PMID:34277212|PMID:35626283|PMID:36809189|PMID:37860582|PMID:38589703|PMID:9536098
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:0110594	primary ciliary dyskinesia 1		ISS	RGD:1556874	D	RGD:13592920	20230718	MouseDO		OMIM:244400	
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:1324	lung cancer		ISO	RGD:1346895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:1909	melanoma		ISO	RGD:1346895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1346895	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME	PMID:11713099|PMID:16858015|PMID:18434704|PMID:24033266|PMID:25741868|PMID:28152038|PMID:28492532|PMID:29363216|PMID:31130284|PMID:31213628|PMID:31589614|PMID:33032373|PMID:34277212|PMID:35626283|PMID:36809189|PMID:38589703
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:28492532
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1346895	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:11231901|PMID:11713099|PMID:16199547|PMID:16858015|PMID:17576681|PMID:18434704|PMID:19300481|PMID:19675306|PMID:21143860|PMID:21270641|PMID:22690115|PMID:24033266|PMID:24498942|PMID:25741868|PMID:28152038|PMID:28492532|PMID:28939216|PMID:28952366|PMID:29095814|PMID:29363216|PMID:30067075|PMID:30300419|PMID:30868567|PMID:31130284|PMID:31213628|PMID:31589614|PMID:31650533|PMID:31772028|PMID:33032373|PMID:33131162|PMID:33447612|PMID:33678284|PMID:33715250|PMID:34277212|PMID:34445527|PMID:34556108|PMID:35626283|PMID:36809189|PMID:38589703|PMID:9536098
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:9563	bronchiectasis		ISO	RGD:1346895	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:16858015|PMID:24033266|PMID:25741868|PMID:28152038|PMID:28492532|PMID:29363216|PMID:31130284|PMID:31213628|PMID:31589614|PMID:33032373|PMID:34277212|PMID:35626283|PMID:36809189|PMID:38589703
1565671	Dnai1	dynein, axonemal, intermediate chain 1	gene	DOID:9563	bronchiectasis		ISO	RGD:1346895	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:11713099|PMID:16858015|PMID:18434704|PMID:24033266|PMID:25741868|PMID:28152038|PMID:28492532|PMID:29363216|PMID:31130284|PMID:31213628|PMID:31589614|PMID:33032373|PMID:34277212|PMID:35626283|PMID:36809189|PMID:38589703
1565672	Mtbp	MDM2 binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565672	Mtbp	MDM2 binding protein	gene	DOID:10283	prostate cancer		ISO	RGD:1354048	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1565672	Mtbp	MDM2 binding protein	gene	DOID:10283	prostate cancer		ISO	RGD:1354048	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1565672	Mtbp	MDM2 binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1354048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565672	Mtbp	MDM2 binding protein	gene	DOID:1909	melanoma		ISO	RGD:1354048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565672	Mtbp	MDM2 binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565672	Mtbp	MDM2 binding protein	gene	DOID:3070	high grade glioma		ISO	RGD:1354048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565672	Mtbp	MDM2 binding protein	gene	DOID:3275	thymoma		ISO	RGD:1354048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565672	Mtbp	MDM2 binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1354048	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565672	Mtbp	MDM2 binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565672	Mtbp	MDM2 binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354048	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29765550
1565672	Mtbp	MDM2 binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565672	Mtbp	MDM2 binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565672	Mtbp	MDM2 binding protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1354048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1565673	Ttf1	transcription termination factor 1	gene	DOID:0070124	congenital nongoitrous hypothyroidism 2		ISO	RGD:1352742	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2	PMID:25741868
1565673	Ttf1	transcription termination factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565673	Ttf1	transcription termination factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1352742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565673	Ttf1	transcription termination factor 1	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1352742	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: EDS I	PMID:28492532
1565673	Ttf1	transcription termination factor 1	gene	DOID:1909	melanoma		ISO	RGD:1352742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565673	Ttf1	transcription termination factor 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1352742	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:25851810
1565673	Ttf1	transcription termination factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352742	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565673	Ttf1	transcription termination factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565673	Ttf1	transcription termination factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565674	Mid2	midline 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565674	Mid2	midline 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565674	Mid2	midline 2	gene	DOID:0112048	non-syndromic X-linked intellectual disability 101		ISO	RGD:1602493	D	RGD:7240710	20170510	OMIM			
1565674	Mid2	midline 2	gene	DOID:0112048	non-syndromic X-linked intellectual disability 101		ISO	RGD:1602493	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Intellectual disability, X-linked 101	PMID:25741868
1565674	Mid2	midline 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomach cancer	
1565674	Mid2	midline 2	gene	DOID:1059	intellectual disability		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
1565674	Mid2	midline 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565675	Coprs	coordinator of PRMT5 and differentiation stimulator	gene	DOID:10534	stomach cancer		ISO	RGD:1602321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565675	Coprs	coordinator of PRMT5 and differentiation stimulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565675	Coprs	coordinator of PRMT5 and differentiation stimulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565675	Coprs	coordinator of PRMT5 and differentiation stimulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565681	Cenpv	centromere protein V	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565681	Cenpv	centromere protein V	gene	DOID:1115	sarcoma		ISO	RGD:1351678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565681	Cenpv	centromere protein V	gene	DOID:1324	lung cancer		ISO	RGD:1351678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565681	Cenpv	centromere protein V	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565681	Cenpv	centromere protein V	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565685	Cxhxorf38	similar to human chromosome X open reading frame 38	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565685	Cxhxorf38	similar to human chromosome X open reading frame 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565685	Cxhxorf38	similar to human chromosome X open reading frame 38	gene	DOID:10534	stomach cancer		ISO	RGD:1352581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565685	Cxhxorf38	similar to human chromosome X open reading frame 38	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565685	Cxhxorf38	similar to human chromosome X open reading frame 38	gene	DOID:1324	lung cancer		ISO	RGD:1352581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565685	Cxhxorf38	similar to human chromosome X open reading frame 38	gene	DOID:5041	esophageal cancer		ISO	RGD:1352581	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565685	Cxhxorf38	similar to human chromosome X open reading frame 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565685	Cxhxorf38	similar to human chromosome X open reading frame 38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565688	Khnyn	KH and NYN domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565688	Khnyn	KH and NYN domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1316201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565688	Khnyn	KH and NYN domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316201	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565688	Khnyn	KH and NYN domain containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565688	Khnyn	KH and NYN domain containing	gene	DOID:3070	high grade glioma		ISO	RGD:1316201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565688	Khnyn	KH and NYN domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565688	Khnyn	KH and NYN domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565690	Gprin3	GPRIN family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565692	Suv39h1-ps1	SUV39H1 histone lysine methyltransferase, pseudogene 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565692	Suv39h1-ps1	SUV39H1 histone lysine methyltransferase, pseudogene 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565692	Suv39h1-ps1	SUV39H1 histone lysine methyltransferase, pseudogene 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565692	Suv39h1-ps1	SUV39H1 histone lysine methyltransferase, pseudogene 1	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:1348120	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29391238
1565692	Suv39h1-ps1	SUV39H1 histone lysine methyltransferase, pseudogene 1	gene	DOID:9005834	Ependymomas		ISO	RGD:1348120	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1565692	Suv39h1-ps1	SUV39H1 histone lysine methyltransferase, pseudogene 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565692	Suv39h1-ps1	SUV39H1 histone lysine methyltransferase, pseudogene 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1348120	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29391238
1565692	Suv39h1-ps1	SUV39H1 histone lysine methyltransferase, pseudogene 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565700	Depp1	DEPP autophagy regulator 1	gene	DOID:0080600	COVID-19		ISO	RGD:1352536	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1565700	Depp1	DEPP autophagy regulator 1	gene	DOID:289	endometriosis		ISO	RGD:1352536	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1565700	Depp1	DEPP autophagy regulator 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352536	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
1565700	Depp1	DEPP autophagy regulator 1	gene	DOID:9455	lipid storage disease		ISO	RGD:1352536	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15342952|PMID:16919414|PMID:17175557
1565703	Gpat3	glycerol-3-phosphate acyltransferase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565703	Gpat3	glycerol-3-phosphate acyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565703	Gpat3	glycerol-3-phosphate acyltransferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1606210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565703	Gpat3	glycerol-3-phosphate acyltransferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1606210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565703	Gpat3	glycerol-3-phosphate acyltransferase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565703	Gpat3	glycerol-3-phosphate acyltransferase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565703	Gpat3	glycerol-3-phosphate acyltransferase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565703	Gpat3	glycerol-3-phosphate acyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565703	Gpat3	glycerol-3-phosphate acyltransferase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:1115	sarcoma		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:1324	lung cancer		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:1909	melanoma		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:3275	thymoma		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565705	Esyt2	extended synaptotagmin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565708	Eps15l1	epidermal growth factor receptor pathway substrate 15-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565708	Eps15l1	epidermal growth factor receptor pathway substrate 15-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565708	Eps15l1	epidermal growth factor receptor pathway substrate 15-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565708	Eps15l1	epidermal growth factor receptor pathway substrate 15-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565708	Eps15l1	epidermal growth factor receptor pathway substrate 15-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565708	Eps15l1	epidermal growth factor receptor pathway substrate 15-like 1	gene	DOID:1909	melanoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565708	Eps15l1	epidermal growth factor receptor pathway substrate 15-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565708	Eps15l1	epidermal growth factor receptor pathway substrate 15-like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565708	Eps15l1	epidermal growth factor receptor pathway substrate 15-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565708	Eps15l1	epidermal growth factor receptor pathway substrate 15-like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565708	Eps15l1	epidermal growth factor receptor pathway substrate 15-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565708	Eps15l1	epidermal growth factor receptor pathway substrate 15-like 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1565708	Eps15l1	epidermal growth factor receptor pathway substrate 15-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565708	Eps15l1	epidermal growth factor receptor pathway substrate 15-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565710	Shisa3	shisa family member 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2292184	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1565710	Shisa3	shisa family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2292184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565712	Proser3	proline and serine rich 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565712	Proser3	proline and serine rich 3	gene	DOID:1115	sarcoma		ISO	RGD:1603570	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565712	Proser3	proline and serine rich 3	gene	DOID:1909	melanoma		ISO	RGD:1603570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565712	Proser3	proline and serine rich 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565712	Proser3	proline and serine rich 3	gene	DOID:4362	cervical cancer		ISO	RGD:1603570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565712	Proser3	proline and serine rich 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603570	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565712	Proser3	proline and serine rich 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565712	Proser3	proline and serine rich 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1603570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565712	Proser3	proline and serine rich 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565712	Proser3	proline and serine rich 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603570	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565716	Lrrc9	leucine rich repeat containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1603492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:1059	intellectual disability		ISO	RGD:1346964	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Intellectual disability (moderate)	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:10908	hydrocephalus		ISS	RGD:1608439	D	RGD:13592920	20180518	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1346964	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:5419	schizophrenia		ISO	RGD:1346964	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:9538	multiple myeloma		ISO	RGD:1346964	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22120009
1565726	Ulk4	unc-51 like kinase 4	gene	DOID:9970	obesity		ISO	RGD:1346964	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Obesity	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:10283	prostate cancer		ISO	RGD:1347365	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:10283	prostate cancer		ISO	RGD:1347365	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1347365	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADHD	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:1115	sarcoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:12849	autistic disorder		ISO	RGD:1347365	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:1324	lung cancer		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:1909	melanoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:3070	high grade glioma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347365	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565728	Csmd2	CUB and Sushi multiple domains 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565729	Prss38	serine protease 38	gene	DOID:1909	melanoma		ISO	RGD:1606403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565731	Ccser1	coiled-coil serine-rich protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565731	Ccser1	coiled-coil serine-rich protein 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1602258	D	RGD:598092485|PMID:28990359	20250321	RGD		DNA:SNPs:: (rs62313897,rs78694949) (human)	
1565731	Ccser1	coiled-coil serine-rich protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565731	Ccser1	coiled-coil serine-rich protein 1	gene	DOID:13938	amenorrhea		ISO	RGD:1602258	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
1565731	Ccser1	coiled-coil serine-rich protein 1	gene	DOID:1909	melanoma		ISO	RGD:1602258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565731	Ccser1	coiled-coil serine-rich protein 1	gene	DOID:3275	thymoma		ISO	RGD:1602258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565731	Ccser1	coiled-coil serine-rich protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565731	Ccser1	coiled-coil serine-rich protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602258	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565731	Ccser1	coiled-coil serine-rich protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565731	Ccser1	coiled-coil serine-rich protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565731	Ccser1	coiled-coil serine-rich protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602258	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565731	Ccser1	coiled-coil serine-rich protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565731	Ccser1	coiled-coil serine-rich protein 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1602258	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1565731	Ccser1	coiled-coil serine-rich protein 1	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:1602258	D	RGD:9068941	20231102	RGD		DNA:SNP:: (rs1381355) (human)	PMID:18438686|REF_RGD_ID:401851917
1565734	Ercc6l	ERCC excision repair 6 like, spindle assembly checkpoint helicase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606557	D	RGD:155260359|PMID:35150321	20221005	RGD		mRNA:increased expression:lung (human)	
1565734	Ercc6l	ERCC excision repair 6 like, spindle assembly checkpoint helicase	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1606557	D	RGD:155260359|PMID:35150321	20221005	RGD		mRNA:increased expression:lung (human)	
1565734	Ercc6l	ERCC excision repair 6 like, spindle assembly checkpoint helicase	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1606557	D	RGD:155598681|PMID:31289493	20221019	RGD		mRNA, protein:increased expression:colorectum (human)	
1565738	N4bp2	NEDD4 binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565738	N4bp2	NEDD4 binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565738	N4bp2	NEDD4 binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1603992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565738	N4bp2	NEDD4 binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1603992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565738	N4bp2	NEDD4 binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565738	N4bp2	NEDD4 binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603992	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565738	N4bp2	NEDD4 binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565738	N4bp2	NEDD4 binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565738	N4bp2	NEDD4 binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565739	Sgpp2	sphingosine-1-phosphate phosphatase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565739	Sgpp2	sphingosine-1-phosphate phosphatase 2	gene	DOID:1324	lung cancer		ISO	RGD:1346522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565739	Sgpp2	sphingosine-1-phosphate phosphatase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346522	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565739	Sgpp2	sphingosine-1-phosphate phosphatase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565744	Tsr3	TSR3 ribosome maturation factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565744	Tsr3	TSR3 ribosome maturation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565744	Tsr3	TSR3 ribosome maturation factor	gene	DOID:1909	melanoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565744	Tsr3	TSR3 ribosome maturation factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565744	Tsr3	TSR3 ribosome maturation factor	gene	DOID:3275	thymoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565744	Tsr3	TSR3 ribosome maturation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565744	Tsr3	TSR3 ribosome maturation factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565744	Tsr3	TSR3 ribosome maturation factor	gene	DOID:630	genetic disease		ISO	RGD:1352414	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1565744	Tsr3	TSR3 ribosome maturation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565744	Tsr3	TSR3 ribosome maturation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565744	Tsr3	TSR3 ribosome maturation factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565748	Slc51b	SLC51 subunit beta	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1604245	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16423920
1565748	Slc51b	SLC51 subunit beta	gene	DOID:13580	cholestasis		ISO	RGD:1604245	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16423920|PMID:22461449
1565748	Slc51b	SLC51 subunit beta	gene	DOID:1561	cognitive disorder		ISO	RGD:1604245	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29382564
1565748	Slc51b	SLC51 subunit beta	gene	DOID:9002010	Primary Bile Acid Malabsorption 2		ISO	RGD:1604245	D	RGD:7240710	20210825	OMIM			
1565748	Slc51b	SLC51 subunit beta	gene	DOID:9002661	Diabetes Complications		ISO	RGD:1604245	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29382564
1565750	Gimap7	GTPase, IMAP family member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565750	Gimap7	GTPase, IMAP family member 7	gene	DOID:0080600	COVID-19		ISO	RGD:1343694	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD4+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
1565750	Gimap7	GTPase, IMAP family member 7	gene	DOID:1909	melanoma		ISO	RGD:1343694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565754	Fxn	frataxin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565754	Fxn	frataxin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604403	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565754	Fxn	frataxin	gene	DOID:0111218	Friedreich ataxia 1		ISO	RGD:1604403	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565754	Fxn	frataxin	gene	DOID:0111218	Friedreich ataxia 1		ISO	RGD:1604403	D	RGD:7240710	20131030	OMIM			
1565754	Fxn	frataxin	gene	DOID:0111218	Friedreich ataxia 1		ISO	RGD:1604403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Friedreich ataxia 1	PMID:15936968|PMID:17703324|PMID:20156111|PMID:24665325|PMID:25741868|PMID:26467025|PMID:26635519|PMID:26704351|PMID:28082330|PMID:28812047|PMID:30021846|PMID:31993871|PMID:33004675|PMID:34906502|PMID:38891993|PMID:40376404
1565754	Fxn	frataxin	gene	DOID:0111219	Friedreich ataxia 2		ISO	RGD:1604403	D	RGD:11554173	20250708	CTD		CTD Direct Evidence: marker/mechanism	
1565754	Fxn	frataxin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1604403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:15936968|PMID:17703324|PMID:20156111|PMID:25741868|PMID:26467025|PMID:26704351|PMID:28082330|PMID:30021846|PMID:31993871|PMID:33004675|PMID:38891993|PMID:40376404
1565754	Fxn	frataxin	gene	DOID:12705	Friedreich ataxia		ISO	RGD:1604403	D	RGD:11554173	20200114	CTD		CTD Direct Evidence: marker/mechanism	PMID:12923074|PMID:16120311|PMID:16239244|PMID:16911956|PMID:17101455|PMID:20098685|PMID:22016819|PMID:23418481|PMID:26954031|PMID:29272104|PMID:30451920
1565754	Fxn	frataxin	gene	DOID:12705	Friedreich ataxia		ISO	RGD:1604403	D	RGD:1582636|PMID:8596916	20061115	RGD		DNA:repeat:intron:GAA (human)	
1565754	Fxn	frataxin	gene	DOID:12705	Friedreich ataxia		ISO	RGD:1604403	D	RGD:1598961|PMID:10543403	20070108	RGD		DNA:point mutation:exon:p.G130V	
1565754	Fxn	frataxin	gene	DOID:12705	Friedreich ataxia		ISO	RGD:1604403	D	RGD:401717566|PMID:24667739	20230803	RGD			
1565754	Fxn	frataxin	gene	DOID:12705	Friedreich ataxia		ISO	RGD:1604403	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FRIEDREICH ATAXIA	PMID:21412413|PMID:21671584|PMID:8751856
1565754	Fxn	frataxin	gene	DOID:12705	Friedreich ataxia		ISS	RGD:1551716	D	RGD:13592920	20230718	MouseDO			
1565754	Fxn	frataxin	gene	DOID:12705	Friedreich ataxia	onset	ISO	RGD:1604403	D	RGD:401793711|PMID:22409940	20230814	RGD		DNA:repeat,deletion:intron,exon:GAA(human)	
1565754	Fxn	frataxin	gene	DOID:12705	Friedreich ataxia	treatment	ISO	RGD:1604403	D	RGD:401793707|PMID:37166361	20230811	RGD			
1565754	Fxn	frataxin	gene	DOID:12705	Friedreich ataxia	treatment	ISO	RGD:1604403	D	RGD:401793708|PMID:22113996	20230811	RGD			
1565754	Fxn	frataxin	gene	DOID:12705	Friedreich ataxia	treatment	ISO	RGD:1604403	D	RGD:401793713|PMID:32646255	20230814	RGD			
1565754	Fxn	frataxin	gene	DOID:3068	glioblastoma		ISO	RGD:1604403	D	RGD:401793715|PMID:21863062	20230815	RGD			
1565754	Fxn	frataxin	gene	DOID:3275	thymoma		ISO	RGD:1604403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565754	Fxn	frataxin	gene	DOID:5041	esophageal cancer		ISO	RGD:1604403	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565754	Fxn	frataxin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604403	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565754	Fxn	frataxin	gene	DOID:630	genetic disease		ISO	RGD:1604403	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15936968|PMID:17703324|PMID:20156111|PMID:25741868|PMID:26467025|PMID:26704351|PMID:28082330|PMID:30021846|PMID:31993871|PMID:33004675|PMID:38891993|PMID:40376404
1565754	Fxn	frataxin	gene	DOID:9000777	Mitochondrial Cardiomyopathy	treatment	ISO	RGD:1604403	D	RGD:401793714|PMID:24705334	20230814	RGD		associated with Friedreich ataxia	
1565754	Fxn	frataxin	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:1551716	D	RGD:401793704|PMID:27537261	20230811	RGD			
1565754	Fxn	frataxin	gene	DOID:9001725	Retina Reperfusion Injury	ameliorates	ISO	RGD:1604403	D	RGD:401793704|PMID:27537261	20230811	RGD			
1565754	Fxn	frataxin	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1604403	D	RGD:11554173	20200114	CTD		CTD Direct Evidence: marker/mechanism	PMID:26954031
1565754	Fxn	frataxin	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1604403	D	RGD:2307049|PMID:10969848	20090520	RGD		DNA:repeats:intron:GAA (human)	
1565754	Fxn	frataxin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565754	Fxn	frataxin	gene	DOID:9351	diabetes mellitus		ISO	RGD:1551716	D	RGD:2307048|PMID:12925693	20090520	RGD		DNA:deletion:exon (mouse)	
1565754	Fxn	frataxin	gene	DOID:9351	diabetes mellitus		ISO	RGD:1604403	D	RGD:2307047|PMID:8815938	20090520	RGD		associated with Friedrich Ataxia; DNA:repeats:intron:GAA (human)	
1565754	Fxn	frataxin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1604403	D	RGD:2307050|PMID:9588463	20090520	RGD		DNA:repeats:intron:GAA (human)	
1565754	Fxn	frataxin	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1604403	D	RGD:2307051|PMID:10102715	20090520	RGD		DNA:repeats:intron:GAA (human)	
1565754	Fxn	frataxin	gene	DOID:9970	obesity		ISO	RGD:1551716	D	RGD:2307045|PMID:17404227	20090520	RGD		DNA:deletion:exon (mouse)	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1354295	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:0060604	ankyloglossia		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:0060814	Wilson-Turner syndrome		ISO	RGD:1354295	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:0060814	Wilson-Turner syndrome		ISO	RGD:1354295	D	RGD:7240710	20190315	OMIM			
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:0060814	Wilson-Turner syndrome		ISO	RGD:1354295	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE | ClinVar Annotator: match by term: LAS1L-related condition | ClinVar Annotator: match by term: Wilson-Turner syndrome	PMID:24647030|PMID:25644381|PMID:25741868|PMID:28492532
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angelman syndrome-like	PMID:25741868
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:1059	intellectual disability		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:11782	astigmatism		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:1324	lung cancer		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:1909	melanoma		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:2030	anxiety disorder		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FGFR2-related craniosynostosis	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:2355	anemia		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:630	genetic disease		ISO	RGD:1354295	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:9001581	Constipation		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:9003671	Hypoventilation		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoventilation	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354295	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:9008525	Respiratory Alkalosis		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory alkalosis	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:9220	central sleep apnea		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central sleep apnea syndrome	
1565755	Las1l	LAS1-like, ribosome biogenesis factor	gene	DOID:9970	obesity		ISO	RGD:1354295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:0060058	lymphoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:0111695	familial adult myoclonic epilepsy 3		ISO	RGD:1343716	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:0111695	familial adult myoclonic epilepsy 3		ISO	RGD:1343716	D	RGD:7240710	20191127	OMIM			
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:0111695	familial adult myoclonic epilepsy 3		ISO	RGD:1343716	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3	PMID:25741868
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:1115	sarcoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:1324	lung cancer		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:1909	melanoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:3070	high grade glioma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:3275	thymoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:4362	cervical cancer		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1343716	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565757	Marchf6	membrane associated ring-CH-type finger 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565759	Actr3b	actin related protein 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565759	Actr3b	actin related protein 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1603621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565759	Actr3b	actin related protein 3B	gene	DOID:1115	sarcoma		ISO	RGD:1603621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565759	Actr3b	actin related protein 3B	gene	DOID:1324	lung cancer		ISO	RGD:1603621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565759	Actr3b	actin related protein 3B	gene	DOID:1909	melanoma		ISO	RGD:1603621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565759	Actr3b	actin related protein 3B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565759	Actr3b	actin related protein 3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1603621	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565759	Actr3b	actin related protein 3B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565759	Actr3b	actin related protein 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565759	Actr3b	actin related protein 3B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565760	Fam163a	family with sequence similarity 163, member A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565761	Aadacl4	arylacetamide deacetylase-like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565763	Cfap263	cilia and flagella associated protein 263	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565763	Cfap263	cilia and flagella associated protein 263	gene	DOID:3070	high grade glioma		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565763	Cfap263	cilia and flagella associated protein 263	gene	DOID:4362	cervical cancer		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565763	Cfap263	cilia and flagella associated protein 263	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565763	Cfap263	cilia and flagella associated protein 263	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565763	Cfap263	cilia and flagella associated protein 263	gene	DOID:5041	esophageal cancer		ISO	RGD:1606018	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565763	Cfap263	cilia and flagella associated protein 263	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565763	Cfap263	cilia and flagella associated protein 263	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565763	Cfap263	cilia and flagella associated protein 263	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565763	Cfap263	cilia and flagella associated protein 263	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1346152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1346152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:303	substance-related disorder		ISO	RGD:1346152	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:3275	thymoma		ISO	RGD:1346152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346152	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346152	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565768	Ablim1	actin-binding LIM protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565772	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604711	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565772	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:10534	stomach cancer		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565772	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:1115	sarcoma		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565772	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565772	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:4362	cervical cancer		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565772	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565772	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:5041	esophageal cancer		ISO	RGD:1604711	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565772	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565772	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604711	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1565772	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565772	Ssc5d	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565773	Polr1e	RNA polymerase I subunit E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565773	Polr1e	RNA polymerase I subunit E	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565773	Polr1e	RNA polymerase I subunit E	gene	DOID:1324	lung cancer		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565773	Polr1e	RNA polymerase I subunit E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565773	Polr1e	RNA polymerase I subunit E	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565773	Polr1e	RNA polymerase I subunit E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565773	Polr1e	RNA polymerase I subunit E	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565773	Polr1e	RNA polymerase I subunit E	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565775	Khdc4	KH domain containing 4, pre-mRNA splicing factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565775	Khdc4	KH domain containing 4, pre-mRNA splicing factor	gene	DOID:10534	stomach cancer		ISO	RGD:1605086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565775	Khdc4	KH domain containing 4, pre-mRNA splicing factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565775	Khdc4	KH domain containing 4, pre-mRNA splicing factor	gene	DOID:1115	sarcoma		ISO	RGD:1605086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565775	Khdc4	KH domain containing 4, pre-mRNA splicing factor	gene	DOID:1324	lung cancer		ISO	RGD:1605086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565775	Khdc4	KH domain containing 4, pre-mRNA splicing factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565775	Khdc4	KH domain containing 4, pre-mRNA splicing factor	gene	DOID:3070	high grade glioma		ISO	RGD:1605086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565775	Khdc4	KH domain containing 4, pre-mRNA splicing factor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1565775	Khdc4	KH domain containing 4, pre-mRNA splicing factor	gene	DOID:4362	cervical cancer		ISO	RGD:1605086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565775	Khdc4	KH domain containing 4, pre-mRNA splicing factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565775	Khdc4	KH domain containing 4, pre-mRNA splicing factor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1565775	Khdc4	KH domain containing 4, pre-mRNA splicing factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565775	Khdc4	KH domain containing 4, pre-mRNA splicing factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565775	Khdc4	KH domain containing 4, pre-mRNA splicing factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565783	Nags	N-acetylglutamate synthase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1349520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
1565783	Nags	N-acetylglutamate synthase	gene	DOID:0112258	N-acetylglutamate synthase deficiency		ISO	RGD:1349520	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12594532|PMID:12754705
1565783	Nags	N-acetylglutamate synthase	gene	DOID:0112258	N-acetylglutamate synthase deficiency		ISO	RGD:1349520	D	RGD:7240710	20130221	OMIM			
1565783	Nags	N-acetylglutamate synthase	gene	DOID:0112258	N-acetylglutamate synthase deficiency		ISO	RGD:1349520	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperammonemia due to N-acetylglutamate synthase deficiency | ClinVar Annotator: match by term: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	PMID:12594532|PMID:12754705|PMID:16199547|PMID:17421020|PMID:25741868|PMID:28492532|PMID:3139931
1565783	Nags	N-acetylglutamate synthase	gene	DOID:10485	esophageal atresia		ISO	RGD:1349520	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
1565783	Nags	N-acetylglutamate synthase	gene	DOID:12849	autistic disorder		ISO	RGD:1349520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:15050968|PMID:15714518|PMID:17421020|PMID:25741868|PMID:28492532
1565783	Nags	N-acetylglutamate synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:1349520	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565783	Nags	N-acetylglutamate synthase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1349520	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
1565783	Nags	N-acetylglutamate synthase	gene	DOID:630	genetic disease		ISO	RGD:1349520	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12594532|PMID:15050968|PMID:15714518|PMID:16199547|PMID:17421020|PMID:25741868|PMID:27570737|PMID:28492532
1565783	Nags	N-acetylglutamate synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565783	Nags	N-acetylglutamate synthase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1349520	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12594532|PMID:12754705|PMID:17703373
1565783	Nags	N-acetylglutamate synthase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1349520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia type III | ClinVar Annotator: match by term: Hyperammonemia, type III	PMID:12594532|PMID:12754705|PMID:15050968|PMID:15714518|PMID:15858972|PMID:15878741|PMID:16199547|PMID:17421020|PMID:23776373|PMID:23894642|PMID:24233332|PMID:25741868|PMID:27037498|PMID:27570737|PMID:28492532|PMID:31575911|PMID:32021803|PMID:33309754|PMID:34510628|PMID:36101823|PMID:38740568
1565783	Nags	N-acetylglutamate synthase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1349520	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperammonemia type III | ClinVar Annotator: match by term: Hyperammonemia, type III	PMID:12594532|PMID:12754705|PMID:15050968|PMID:15714518|PMID:15858972|PMID:15878741|PMID:16199547|PMID:17421020|PMID:23776373|PMID:23894642|PMID:24233332|PMID:25741868|PMID:27037498|PMID:27570737|PMID:28492532|PMID:31575911|PMID:31589614|PMID:32021803|PMID:33309754|PMID:34510628|PMID:36101823|PMID:38740568
1565783	Nags	N-acetylglutamate synthase	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:1349520	D	RGD:1600560|PMID:12594532	20070314	RGD		N-acetylglutamate synthase deficiency, OMIM:237310, DNA:frameshift:1025delG, point mutation:W324X	
1565784	Uqcc4	ubiquinol-cytochrome c reductase complex assembly factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565785	Tasl	TLR adaptor interacting with endolysosomal SLC15A4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565785	Tasl	TLR adaptor interacting with endolysosomal SLC15A4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565787	Pinlyp	phospholipase A2 inhibitor and Ly6/Plaur domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:6771275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565787	Pinlyp	phospholipase A2 inhibitor and Ly6/Plaur domain containing	gene	DOID:1324	lung cancer		ISO	RGD:6771275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565787	Pinlyp	phospholipase A2 inhibitor and Ly6/Plaur domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:6771275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565789	Slc25a32	solute carrier family 25 member 32	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565789	Slc25a32	solute carrier family 25 member 32	gene	DOID:10283	prostate cancer		ISO	RGD:1605933	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:28492532
1565789	Slc25a32	solute carrier family 25 member 32	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565789	Slc25a32	solute carrier family 25 member 32	gene	DOID:1115	sarcoma		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565789	Slc25a32	solute carrier family 25 member 32	gene	DOID:2394	ovarian cancer		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1565789	Slc25a32	solute carrier family 25 member 32	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:26933868|PMID:28492532
1565789	Slc25a32	solute carrier family 25 member 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565789	Slc25a32	solute carrier family 25 member 32	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565789	Slc25a32	solute carrier family 25 member 32	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1605933	D	RGD:7240710	20190315	OMIM			
1565789	Slc25a32	solute carrier family 25 member 32	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1605933	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Exercise intolerance, riboflavin-responsive | ClinVar Annotator: match by term: SLC25A32-related condition	PMID:25741868|PMID:26933868|PMID:28492532
1565789	Slc25a32	solute carrier family 25 member 32	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0060058	lymphoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0060249	scoliosis		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0060260	ptosis		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0080572	congenital disorder of glycosylation Iw		ISO	RGD:1342989	D	RGD:7240710	20211006	OMIM			
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0080572	congenital disorder of glycosylation Iw		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1w | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iw, autosomal dominant | ClinVar Annotator: match by term: STT3A-related condition	PMID:23842455|PMID:25741868|PMID:28424003|PMID:28492532|PMID:29892012|PMID:34653363
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0080600	COVID-19		ISO	RGD:1342989	D	RGD:9068941	20211008	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:10534	stomach cancer		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:10907	microcephaly		ISO	RGD:1342989	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:1324	lung cancer		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:1682	congenital heart disease		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:1826	epilepsy		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:1969	cerebral palsy		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:2841	asthma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:3070	high grade glioma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25741868|PMID:28492532
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:423	myopathy		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:4362	cervical cancer		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:540	strabismus		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:6039	uveal melanoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:630	genetic disease		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23842455|PMID:25741868|PMID:28492532|PMID:34653363
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:9003760	Myalgia		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:9007661	Dwarfism		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565793	Stt3a	STT3 oligosaccharyltransferase complex catalytic subunit A	gene	DOID:9840	esotropia		ISO	RGD:1342989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
1565796	Msantd1	Myb/SANT DNA binding domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565796	Msantd1	Myb/SANT DNA binding domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604952	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1353035	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1353035	D	RGD:7240710	20130221	OMIM			
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1353035	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALBINISM, OCULAR, TYPE I | ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular Albinism type 1 | ClinVar Annotator: match by term: Ocular albinism | ClinVar Annotator: match by term: Ocular albinism, type I	PMID:11214907|PMID:15965158|PMID:16199547|PMID:16550551|PMID:16646960|PMID:17576681|PMID:17960122|PMID:18978956|PMID:19390656|PMID:21541274|PMID:24526317|PMID:25741868|PMID:26160353|PMID:28211458|PMID:28492532|PMID:28771251|PMID:29847651|PMID:31103373|PMID:34838614|PMID:35052368|PMID:9529334|PMID:9536098
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:0050633	ocular albinism 1		ISS	RGD:1558529	D	RGD:13592920	20230718	MouseDO		OMIM:300500	
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:0111795	congenital nystagmus 6		ISO	RGD:1353035	D	RGD:7240710	20130221	OMIM			
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:0111795	congenital nystagmus 6		ISO	RGD:1353035	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NYSTAGMUS, 6, CONGENITAL, X-LINKED | ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked	PMID:15965158|PMID:18978956|PMID:19390656|PMID:21541274|PMID:25741868|PMID:26160353|PMID:28211458|PMID:28339057|PMID:28492532|PMID:38648460
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:1596	depressive disorder		ISO	RGD:1353035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:16704458|PMID:21541274|PMID:21739261|PMID:27734839
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:1909	melanoma		ISO	RGD:1353035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:5679	retinal disease		ISO	RGD:1353035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:15965158|PMID:17960122|PMID:18978956|PMID:19390656|PMID:21541274|PMID:26160353|PMID:26785811|PMID:28211458|PMID:28492532
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:630	genetic disease		ISO	RGD:1353035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11115845|PMID:11214907|PMID:16704458|PMID:21541274|PMID:21739261|PMID:25741868|PMID:27734839|PMID:28492532|PMID:28559085|PMID:29345414|PMID:34251969|PMID:7647783|PMID:9529334
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:9001386	Albinism		ISO	RGD:1353035	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Albinism	
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1353035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:16704458|PMID:21541274|PMID:21739261|PMID:27734839
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565799	Gpr143	G protein-coupled receptor 143	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1353035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:15965158|PMID:16704458|PMID:18978956|PMID:19390656|PMID:21541274|PMID:21739261|PMID:25741868|PMID:26160353|PMID:27734839|PMID:28211458|PMID:28492532
1565800	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:10534	stomach cancer		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565800	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:1115	sarcoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565800	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:1909	melanoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565800	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565800	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565800	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1607028	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565800	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565800	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565800	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565800	Vsig10	V-set and immunoglobulin domain containing 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:0060058	lymphoma		ISO	RGD:1601707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:1115	sarcoma		ISO	RGD:1601707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:1205	allergic disease		ISO	RGD:1601707	D	RGD:640478521|PMID:19961619	20260319	RGD		DNA:SNP: :rs7629719	
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:1324	lung cancer	sexual_dimorphism	ISO	RGD:1601707	D	RGD:640478518|PMID:32193401	20260319	RGD		DNA:SNPs:intron:rs1497305, rs13062453, rs77123808	
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1601707	D	RGD:640478524|PMID:24260339	20260319	RGD		DNA:SNP: :rs322117	
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:3070	high grade glioma		ISO	RGD:1601707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:3310	atopic dermatitis		ISO	RGD:1601707	D	RGD:633649523|PMID:17850181	20260303	RGD		DNA:SNPs, haplotype: :multiple	
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1601707	D	RGD:640478518|PMID:32193401	20260319	RGD		DNA:SNPs:intron:rs1497305, rs13062453	
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1601707	D	RGD:640478520|PMID:33974636	20260319	RGD			
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565804	Col6a5	collagen type VI alpha 5 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565810	Sec14l4	SEC14-like lipid binding 4	gene	DOID:1909	melanoma		ISO	RGD:1343842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565810	Sec14l4	SEC14-like lipid binding 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343842	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565810	Sec14l4	SEC14-like lipid binding 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565810	Sec14l4	SEC14-like lipid binding 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565810	Sec14l4	SEC14-like lipid binding 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565810	Sec14l4	SEC14-like lipid binding 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565811	Pcdh10	protocadherin 10	gene	DOID:10534	stomach cancer		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565811	Pcdh10	protocadherin 10	gene	DOID:12849	autistic disorder		ISO	RGD:1348202	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18621663
1565811	Pcdh10	protocadherin 10	gene	DOID:1324	lung cancer		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565811	Pcdh10	protocadherin 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565811	Pcdh10	protocadherin 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565811	Pcdh10	protocadherin 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565817	Surf2	surfeit 2	gene	DOID:1324	lung cancer		ISO	RGD:1345081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565817	Surf2	surfeit 2	gene	DOID:1909	melanoma		ISO	RGD:1345081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565817	Surf2	surfeit 2	gene	DOID:3275	thymoma		ISO	RGD:1345081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565817	Surf2	surfeit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345081	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565817	Surf2	surfeit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565817	Surf2	surfeit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565818	Slc8b1	solute carrier family 8 member B1	gene	DOID:9002676	Cerebral Hemorrhage		IEP		D	RGD:9685494|PMID:23564126	20150113	RGD			
1565819	Zfp831	zinc finger protein 831	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565819	Zfp831	zinc finger protein 831	gene	DOID:0080600	COVID-19		ISO	RGD:1316121	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1565819	Zfp831	zinc finger protein 831	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565819	Zfp831	zinc finger protein 831	gene	DOID:1324	lung cancer		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565819	Zfp831	zinc finger protein 831	gene	DOID:1909	melanoma		ISO	RGD:1316121	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21499247
1565819	Zfp831	zinc finger protein 831	gene	DOID:1909	melanoma		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565819	Zfp831	zinc finger protein 831	gene	DOID:3070	high grade glioma		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565819	Zfp831	zinc finger protein 831	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565819	Zfp831	zinc finger protein 831	gene	DOID:5041	esophageal cancer		ISO	RGD:1316121	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565819	Zfp831	zinc finger protein 831	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565819	Zfp831	zinc finger protein 831	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1565819	Zfp831	zinc finger protein 831	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565820	Slc9c2	solute carrier family 9, member C2 (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565820	Slc9c2	solute carrier family 9, member C2 (putative)	gene	DOID:1115	sarcoma		ISO	RGD:1354032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565820	Slc9c2	solute carrier family 9, member C2 (putative)	gene	DOID:1909	melanoma		ISO	RGD:1354032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565820	Slc9c2	solute carrier family 9, member C2 (putative)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565820	Slc9c2	solute carrier family 9, member C2 (putative)	gene	DOID:3070	high grade glioma		ISO	RGD:1354032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565820	Slc9c2	solute carrier family 9, member C2 (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565820	Slc9c2	solute carrier family 9, member C2 (putative)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565820	Slc9c2	solute carrier family 9, member C2 (putative)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565821	Sptssa	serine palmitoyltransferase, small subunit A	gene	DOID:0070459	hereditary spastic paraplegia 90A		ISO	RGD:1350858	D	RGD:7240710	20230726	OMIM			
1565821	Sptssa	serine palmitoyltransferase, small subunit A	gene	DOID:0070459	hereditary spastic paraplegia 90A		ISO	RGD:1350858	D	RGD:8554872	20230725	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT	PMID:36718090
1565821	Sptssa	serine palmitoyltransferase, small subunit A	gene	DOID:0070460	hereditary spastic paraplegia 90B		ISO	RGD:1350858	D	RGD:7240710	20230726	OMIM			
1565821	Sptssa	serine palmitoyltransferase, small subunit A	gene	DOID:0070460	hereditary spastic paraplegia 90B		ISO	RGD:1350858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia 90B, autosomal recessive	
1565821	Sptssa	serine palmitoyltransferase, small subunit A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606334	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1606334	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15964507
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:3275	thymoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:4362	cervical cancer		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1606334	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:9007661	Dwarfism	treatment	ISO	RGD:1557217	D	RGD:629006517|PMID:24285747	20251030	RGD			
1565825	Gstm4	glutathione S-transferase mu 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1565831	Klf8	KLF transcription factor 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565831	Klf8	KLF transcription factor 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565831	Klf8	KLF transcription factor 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565831	Klf8	KLF transcription factor 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565831	Klf8	KLF transcription factor 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565831	Klf8	KLF transcription factor 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565834	Mbnl3	muscleblind-like splicing regulator 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565834	Mbnl3	muscleblind-like splicing regulator 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565835	Wfikkn1	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565835	Wfikkn1	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1342711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565835	Wfikkn1	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565835	Wfikkn1	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565838	Naa40	N(alpha)-acetyltransferase 40, NatD catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565838	Naa40	N(alpha)-acetyltransferase 40, NatD catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1602685	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565838	Naa40	N(alpha)-acetyltransferase 40, NatD catalytic subunit	gene	DOID:1909	melanoma		ISO	RGD:1602685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565838	Naa40	N(alpha)-acetyltransferase 40, NatD catalytic subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1602685	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565838	Naa40	N(alpha)-acetyltransferase 40, NatD catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565838	Naa40	N(alpha)-acetyltransferase 40, NatD catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565840	Eif3m	eukaryotic translation initiation factor 3, subunit M	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565840	Eif3m	eukaryotic translation initiation factor 3, subunit M	gene	DOID:10534	stomach cancer		ISO	RGD:1607072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565840	Eif3m	eukaryotic translation initiation factor 3, subunit M	gene	DOID:1324	lung cancer		ISO	RGD:1607072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565840	Eif3m	eukaryotic translation initiation factor 3, subunit M	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565840	Eif3m	eukaryotic translation initiation factor 3, subunit M	gene	DOID:4362	cervical cancer		ISO	RGD:1607072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565840	Eif3m	eukaryotic translation initiation factor 3, subunit M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565840	Eif3m	eukaryotic translation initiation factor 3, subunit M	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565845	Tmem144	transmembrane protein 144	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565845	Tmem144	transmembrane protein 144	gene	DOID:10534	stomach cancer		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565845	Tmem144	transmembrane protein 144	gene	DOID:1909	melanoma		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565845	Tmem144	transmembrane protein 144	gene	DOID:4362	cervical cancer		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565845	Tmem144	transmembrane protein 144	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565845	Tmem144	transmembrane protein 144	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565845	Tmem144	transmembrane protein 144	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565845	Tmem144	transmembrane protein 144	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565847	Zfp26	zinc finger protein 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565847	Zfp26	zinc finger protein 26	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565847	Zfp26	zinc finger protein 26	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565847	Zfp26	zinc finger protein 26	gene	DOID:1324	lung cancer		ISO	RGD:1604215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565847	Zfp26	zinc finger protein 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565847	Zfp26	zinc finger protein 26	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565847	Zfp26	zinc finger protein 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565847	Zfp26	zinc finger protein 26	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1565856	Lrrc51	leucine rich repeat containing 51	gene	DOID:9008681	Deafness		ISO	RGD:41410865	D	RGD:11554173	20210413	CTD		CTD Direct Evidence: marker/mechanism	PMID:18953341
1565857	Pnma5	PNMA family member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:0051061	stroke		ISO	RGD:1348086	D	RGD:2317144|PMID:19752551	20100316	RGD		DNA:snp:exon:EX28T>C rs3900940 (human)	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:10534	stomach cancer		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:1115	sarcoma		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:11830	myopia		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:1324	lung cancer		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:1826	epilepsy		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1348086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:9000528	Coronary Disease		ISO	RGD:1348086	D	RGD:2317145|PMID:18073581	20100316	RGD		DNA:snp:exon:EX28T>C rs3900940 (human)	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565858	Myh15	myosin, heavy chain 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565866	Cfap54	cilia and flagella associated protein 54	gene	DOID:0070727	spermatogenic failure 98		ISO	RGD:1603180	D	RGD:7240710	20250319	OMIM			
1565866	Cfap54	cilia and flagella associated protein 54	gene	DOID:0070727	spermatogenic failure 98		ISO	RGD:1603180	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 98	
1565866	Cfap54	cilia and flagella associated protein 54	gene	DOID:0070767	primary ciliary dyskinesia 54		ISO	RGD:1603180	D	RGD:7240710	20250319	OMIM			
1565866	Cfap54	cilia and flagella associated protein 54	gene	DOID:0070767	primary ciliary dyskinesia 54		ISO	RGD:1603180	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 54 | ClinVar Annotator: match by term: PRIMARY CILIARY DYSKINESIA 54	PMID:25741868
1565868	Atxn2l	ataxin 2-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565868	Atxn2l	ataxin 2-like	gene	DOID:10534	stomach cancer		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565868	Atxn2l	ataxin 2-like	gene	DOID:1115	sarcoma		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565868	Atxn2l	ataxin 2-like	gene	DOID:1324	lung cancer		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565868	Atxn2l	ataxin 2-like	gene	DOID:1909	melanoma		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565868	Atxn2l	ataxin 2-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565868	Atxn2l	ataxin 2-like	gene	DOID:3275	thymoma		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565868	Atxn2l	ataxin 2-like	gene	DOID:4362	cervical cancer		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565868	Atxn2l	ataxin 2-like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565868	Atxn2l	ataxin 2-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565868	Atxn2l	ataxin 2-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565868	Atxn2l	ataxin 2-like	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33283965
1565868	Atxn2l	ataxin 2-like	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1565868	Atxn2l	ataxin 2-like	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1604832	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
1565868	Atxn2l	ataxin 2-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565868	Atxn2l	ataxin 2-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565868	Atxn2l	ataxin 2-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565872	Tnfrsf18	TNF receptor superfamily member 18	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1604651	D	RGD:40400714|PMID:23754510	20201103	RGD		mRNA,protein:increased expression:multiple (human)	
1565872	Tnfrsf18	TNF receptor superfamily member 18	gene	DOID:1324	lung cancer		ISO	RGD:1604651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565872	Tnfrsf18	TNF receptor superfamily member 18	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis		ISO	RGD:1604651	D	RGD:38549361|PMID:20945034	20200831	RGD		mRNA:decreased expression: T cell	
1565872	Tnfrsf18	TNF receptor superfamily member 18	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis	disease_progression	ISO	RGD:1604651	D	RGD:38456004|PMID:28101786	20200810	RGD			
1565872	Tnfrsf18	TNF receptor superfamily member 18	gene	DOID:4362	cervical cancer		ISO	RGD:1604651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565872	Tnfrsf18	TNF receptor superfamily member 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565872	Tnfrsf18	TNF receptor superfamily member 18	gene	DOID:9065	leishmaniasis		ISO	RGD:1604651	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20139272
1565877	Zdhhc14	zDHHC palmitoyltransferase 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565877	Zdhhc14	zDHHC palmitoyltransferase 14	gene	DOID:10534	stomach cancer		ISO	RGD:1352800	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565877	Zdhhc14	zDHHC palmitoyltransferase 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565879	Hsf2bp	heat shock transcription factor 2 binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565879	Hsf2bp	heat shock transcription factor 2 binding protein	gene	DOID:0112278	primary ovarian insufficiency 19		ISO	RGD:1349418	D	RGD:7240710	20210414	OMIM			
1565879	Hsf2bp	heat shock transcription factor 2 binding protein	gene	DOID:0112278	primary ovarian insufficiency 19		ISO	RGD:1349418	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure 19	PMID:25741868
1565879	Hsf2bp	heat shock transcription factor 2 binding protein	gene	DOID:0112278	primary ovarian insufficiency 19		ISS	RGD:1558419	D	RGD:13592920	20230718	MouseDO		OMIM:619245	
1565879	Hsf2bp	heat shock transcription factor 2 binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1349418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565879	Hsf2bp	heat shock transcription factor 2 binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1349418	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565881	Zfp3	zinc finger protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565881	Zfp3	zinc finger protein 3	gene	DOID:1909	melanoma		ISO	RGD:1346211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565881	Zfp3	zinc finger protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1346211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565881	Zfp3	zinc finger protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565881	Zfp3	zinc finger protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565883	Fam222a	family with sequence similarity 222, member A	gene	DOID:3275	thymoma		ISO	RGD:1605921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565883	Fam222a	family with sequence similarity 222, member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565884	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565884	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1353013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565884	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1353013	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1565884	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:3275	thymoma		ISO	RGD:1353013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565884	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565884	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565884	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565884	Peli2	pellino E3 ubiquitin protein ligase family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:0070341	neonatal-onset type II citrullinemia		ISO	RGD:1323000	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:0070341	neonatal-onset type II citrullinemia		ISO	RGD:1323000	D	RGD:7240710	20130221	OMIM			
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:0070341	neonatal-onset type II citrullinemia		ISO	RGD:1323000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET | ClinVar Annotator: match by term: SLC25A13-related condition	PMID:10369257|PMID:11153906|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:17576681|PMID:18392553|PMID:19036621|PMID:20301360|PMID:21134364|PMID:21424115|PMID:21507300|PMID:24586645|PMID:25216257|PMID:25741868|PMID:27405544|PMID:28492532|PMID:29376577|PMID:29659898|PMID:29787821|PMID:30904546|PMID:36599957|PMID:9536098
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:0070342	adult-onset type II citrullinemia		ISO	RGD:1323000	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16449956
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:0070342	adult-onset type II citrullinemia		ISO	RGD:1323000	D	RGD:1599241|PMID:10369257	20080519	RGD		DNA:mutations: :multiple	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:0070342	adult-onset type II citrullinemia		ISO	RGD:1323000	D	RGD:7240710	20130221	OMIM			
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:0070342	adult-onset type II citrullinemia		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CITRIN DEFICIENCY, ADOLESCENT OR ADULT ONSET | ClinVar Annotator: match by term: Citrullinemia, type II, adult-onset | ClinVar Annotator: match by term: Late-onset citrullinemia	PMID:10369257|PMID:11153906|PMID:11793471|PMID:12111366|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:17576681|PMID:18392553|PMID:19036621|PMID:20301360|PMID:20927635|PMID:21507300|PMID:23053473|PMID:23430852|PMID:23901231|PMID:24069319|PMID:25365849|PMID:25741868|PMID:26858187|PMID:27405544|PMID:28492532|PMID:29651749|PMID:29659898|PMID:31450232|PMID:32962675|PMID:33497767|PMID:33763395|PMID:35142380|PMID:9536098
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:0070342	adult-onset type II citrullinemia	susceptibility	ISO	RGD:1323000	D	RGD:1599242|PMID:11153906	20080519	RGD		DNA,protein:mutations,decreased expression:exons,liver:multiple	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:10534	stomach cancer		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:1115	sarcoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:11372	megacolon		ISO	RGD:1323000	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:1324	lung cancer		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:1826	epilepsy		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11153906|PMID:16059747|PMID:20301360|PMID:25741868|PMID:28492532|PMID:32962675|PMID:33763395|PMID:35142380
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:1909	melanoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:3275	thymoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:5082	liver cirrhosis		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cirrhosis of liver	PMID:10369257|PMID:14680984|PMID:15050970|PMID:20301360|PMID:25741868|PMID:27405544|PMID:28492532
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:630	genetic disease		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323000	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:9002589	Bone Fractures		ISO	RGD:1323000	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22504420
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:9004898	Jaundice		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:10369257|PMID:14680984|PMID:15050970|PMID:20301360|PMID:25741868|PMID:27405544|PMID:28492532
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11153906|PMID:16059747|PMID:20301360|PMID:25741868|PMID:28492532|PMID:32962675|PMID:33763395|PMID:35142380
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:9009138	Citrullinemia Type 2		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Citrin deficiency | ClinVar Annotator: match by term: Citrullinemia type II | ClinVar Annotator: match by term: citrin deficiency	PMID:10369257|PMID:11153906|PMID:11793471|PMID:12111366|PMID:12409267|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16311094|PMID:16874556|PMID:17576681|PMID:17982687|PMID:18392553|PMID:18487280|PMID:18578996|PMID:20301360|PMID:20376801|PMID:20927635|PMID:21507300|PMID:21914561|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23430852|PMID:23901231|PMID:24069319|PMID:24161253|PMID:25381944|PMID:25640679|PMID:25741868|PMID:26858187|PMID:27405544|PMID:27779681|PMID:28492532|PMID:29152073|PMID:29651749|PMID:29659898|PMID:30703226|PMID:31607264|PMID:31845334|PMID:32447331|PMID:32962675|PMID:33137944|PMID:33497767|PMID:33627582|PMID:33763395|PMID:34045052|PMID:34704407|PMID:35142380|PMID:38323732|PMID:9536098
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:9273	citrullinemia		ISO	RGD:1323000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Citrullinemia	PMID:10369257|PMID:11153906|PMID:11281457|PMID:11343052|PMID:11793471|PMID:12424587|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16449956|PMID:17576681|PMID:17880783|PMID:18162705|PMID:18367750|PMID:18392553|PMID:18487280|PMID:19036621|PMID:19099775|PMID:19185551|PMID:19470249|PMID:20301360|PMID:20376801|PMID:20927635|PMID:21424115|PMID:21908947|PMID:21979481|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23067347|PMID:23430852|PMID:23701493|PMID:24069319|PMID:24161253|PMID:24586645|PMID:25365849|PMID:25741868|PMID:25947987|PMID:26852511|PMID:26858187|PMID:27347070|PMID:27405544|PMID:27577219|PMID:27578510|PMID:27706244|PMID:27829683|PMID:28492532|PMID:29659898|PMID:30181955|PMID:30693370|PMID:31450232|PMID:31845334|PMID:31980526|PMID:32289814|PMID:32720136|PMID:32962675|PMID:33072931|PMID:33190319|PMID:33497767|PMID:33763395|PMID:34006251|PMID:34045052|PMID:35085585|PMID:35095998|PMID:35142380|PMID:35798653|PMID:36079864|PMID:36599957|PMID:37029238|PMID:37146272|PMID:37305718|PMID:37939726|PMID:38497870|PMID:39419476|PMID:855835|PMID:9536098
1565889	Slc25a13	solute carrier family 25 member 13	gene	DOID:9970	obesity		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:11153906|PMID:16059747|PMID:20301360|PMID:25741868|PMID:28492532|PMID:32962675|PMID:33763395|PMID:35142380
1565895	Klhl35	kelch-like family member 35	gene	DOID:10534	stomach cancer		ISO	RGD:1603871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565895	Klhl35	kelch-like family member 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565895	Klhl35	kelch-like family member 35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565899	Spib	Spi-B transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565899	Spib	Spi-B transcription factor	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1347644	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20639880
1565899	Spib	Spi-B transcription factor	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1347644	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
1565899	Spib	Spi-B transcription factor	gene	DOID:1909	melanoma		ISO	RGD:1347644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565899	Spib	Spi-B transcription factor	gene	DOID:3275	thymoma		ISO	RGD:1347644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565899	Spib	Spi-B transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:1347644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565899	Spib	Spi-B transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565899	Spib	Spi-B transcription factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565905	C1h11orf16	similar to human chromosome 11 open reading frame 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565905	C1h11orf16	similar to human chromosome 11 open reading frame 16	gene	DOID:10534	stomach cancer		ISO	RGD:1347638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565905	C1h11orf16	similar to human chromosome 11 open reading frame 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565905	C1h11orf16	similar to human chromosome 11 open reading frame 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565905	C1h11orf16	similar to human chromosome 11 open reading frame 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565905	C1h11orf16	similar to human chromosome 11 open reading frame 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565906	Lclat1	lysocardiolipin acyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565906	Lclat1	lysocardiolipin acyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565906	Lclat1	lysocardiolipin acyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565906	Lclat1	lysocardiolipin acyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1347425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565906	Lclat1	lysocardiolipin acyltransferase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1347425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1565906	Lclat1	lysocardiolipin acyltransferase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1347425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565906	Lclat1	lysocardiolipin acyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565906	Lclat1	lysocardiolipin acyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565906	Lclat1	lysocardiolipin acyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565906	Lclat1	lysocardiolipin acyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565906	Lclat1	lysocardiolipin acyltransferase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565906	Lclat1	lysocardiolipin acyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565906	Lclat1	lysocardiolipin acyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565913	Cd207	CD207 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1347897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565913	Cd207	CD207 molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1347897	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565913	Cd207	CD207 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565913	Cd207	CD207 molecule	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565913	Cd207	CD207 molecule	gene	DOID:9256	colorectal cancer		ISO	RGD:1347897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1565925	Ccdc42	coiled-coil domain containing 42	gene	DOID:1324	lung cancer		ISO	RGD:1601721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565925	Ccdc42	coiled-coil domain containing 42	gene	DOID:1909	melanoma		ISO	RGD:1601721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565932	Satl1	spermidine/spermine N1-acetyl transferase-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565932	Satl1	spermidine/spermine N1-acetyl transferase-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565934	Nol7	nucleolar protein 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565934	Nol7	nucleolar protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565934	Nol7	nucleolar protein 7	gene	DOID:10534	stomach cancer		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565934	Nol7	nucleolar protein 7	gene	DOID:1115	sarcoma		ISO	RGD:1343047	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565934	Nol7	nucleolar protein 7	gene	DOID:1324	lung cancer		ISO	RGD:1343047	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565934	Nol7	nucleolar protein 7	gene	DOID:3275	thymoma		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565934	Nol7	nucleolar protein 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565934	Nol7	nucleolar protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565934	Nol7	nucleolar protein 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343047	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1565934	Nol7	nucleolar protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565934	Nol7	nucleolar protein 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1601870	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION	PMID:23643385|PMID:25741868|PMID:28492532
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:1115	sarcoma		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:11832	visual epilepsy		ISO	RGD:1601870	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:15210538|PMID:16326995|PMID:16765077|PMID:23643385|PMID:23719228|PMID:25741868|PMID:28492532
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:11040282	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	PMID:10545952|PMID:15210538|PMID:19879173|PMID:20159436|PMID:25741868|PMID:28492532
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:1324	lung cancer		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:1909	melanoma		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:3070	high grade glioma		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:4362	cervical cancer		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601870	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565937	Ncaph2	non-SMC condensin II complex, subunit H2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601870	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565940	Arl8a	ARF like GTPase 8A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565940	Arl8a	ARF like GTPase 8A	gene	DOID:4362	cervical cancer		ISO	RGD:1348114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565940	Arl8a	ARF like GTPase 8A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565940	Arl8a	ARF like GTPase 8A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348114	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:10763	hypertension		ISO	RGD:1343957	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21115475
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1343957	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25305756
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:3275	thymoma		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1343957	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1343957	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17909013
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:9002554	Tachycardia		ISO	RGD:1343957	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21115475
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:9006680	Hyperventilation		ISO	RGD:1343957	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21115475
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1565941	Vav3	vav guanine nucleotide exchange factor 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1343957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1565942	Dynlt4	dynein light chain Tctex-type 4	gene	DOID:1115	sarcoma		ISO	RGD:1606104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565942	Dynlt4	dynein light chain Tctex-type 4	gene	DOID:1324	lung cancer		ISO	RGD:1606104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565942	Dynlt4	dynein light chain Tctex-type 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565942	Dynlt4	dynein light chain Tctex-type 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606104	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental Disorder	
1565947	Ntn4	netrin 4	gene	DOID:10283	prostate cancer		ISO	RGD:1348678	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1565947	Ntn4	netrin 4	gene	DOID:10283	prostate cancer		ISO	RGD:1348678	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1565947	Ntn4	netrin 4	gene	DOID:1324	lung cancer		ISO	RGD:1348678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565947	Ntn4	netrin 4	gene	DOID:3275	thymoma		ISO	RGD:1348678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565947	Ntn4	netrin 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1565947	Ntn4	netrin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348678	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565947	Ntn4	netrin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:1321433	D	RGD:9681739|PMID:22990015	20141205	RGD		DNA:SNP::rs469568(human)	
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:0060249	scoliosis		ISO	RGD:1321433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:0060260	ptosis		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:0080600	COVID-19		ISO	RGD:1321433	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type		ISO	RGD:1321433	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type		ISO	RGD:1321433	D	RGD:1598738|PMID:15373769	20141205	RGD		DNA:deletions: :	
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type		ISO	RGD:1321433	D	RGD:7240710	20130221	OMIM			
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type		ISO	RGD:1321433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADAMTS2-related condition | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type VII, autosomal recessive	PMID:10417273|PMID:15373769|PMID:15389701|PMID:16199547|PMID:1642226|PMID:17576681|PMID:18973246|PMID:22863189|PMID:23495203|PMID:25640679|PMID:25741868|PMID:26582918|PMID:26765342|PMID:28306225|PMID:28346524|PMID:28492532|PMID:29843651|PMID:7735500|PMID:8215497|PMID:8986271|PMID:9536098
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:0111359	large congenital melanocytic nevus		ISO	RGD:1321433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nevus spilus	PMID:25741868|PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:1115	sarcoma		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:11830	myopia		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1321433	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:22863189|PMID:25741868|PMID:28346524|PMID:28492532|PMID:29843651
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:13359	Ehlers-Danlos syndrome	susceptibility	ISO	RGD:1321433	D	RGD:9068941	20200609	RGD			PMID:10417273|REF_RGD_ID:1598739
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1321433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25741868|PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:1596	depressive disorder		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1321433	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:26139392
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:2841	asthma		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:3144	cutis laxa		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:3275	thymoma		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:4448	macular degeneration		ISO	RGD:1321433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Macular degeneration	PMID:25741868|PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:630	genetic disease		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:35132093
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9002315	Kidney Calculi		ISO	RGD:1321433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kidney stone	PMID:25741868|PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9003279	Joint Dislocations		ISO	RGD:1321433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint subluxation	PMID:25741868|PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9007736	Vertigo		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9834	hyperopia		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1565950	Adamts2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	gene	DOID:9970	obesity		ISO	RGD:1321433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
1565955	Nkap	NFKB activating protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565955	Nkap	NFKB activating protein	gene	DOID:10534	stomach cancer		ISO	RGD:1606506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565955	Nkap	NFKB activating protein	gene	DOID:1115	sarcoma		ISO	RGD:1606506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565955	Nkap	NFKB activating protein	gene	DOID:1324	lung cancer		ISO	RGD:1606506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565955	Nkap	NFKB activating protein	gene	DOID:630	genetic disease		ISO	RGD:1606506	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:31587868
1565955	Nkap	NFKB activating protein	gene	DOID:9001354	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY		ISO	RGD:1606506	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	PMID:25741868
1565955	Nkap	NFKB activating protein	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1606506	D	RGD:155641252|PMID:31587868	20221107	RGD		DNA:missense mutations:exon 8-9:multiple (human)	
1565955	Nkap	NFKB activating protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565955	Nkap	NFKB activating protein	gene	DOID:9007858	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE		ISO	RGD:1606506	D	RGD:7240710	20200722	OMIM			
1565955	Nkap	NFKB activating protein	gene	DOID:9007858	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE		ISO	RGD:1606506	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	PMID:25741868|PMID:30544257|PMID:31587868
1565955	Nkap	NFKB activating protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606506	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
1565955	Nkap	NFKB activating protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1565959	RGD1565959	RGD1565959	gene	DOID:9005369	Hepatomegaly		EXP		D	RGD:11554173	20180130	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
1565966	Far2	fatty acyl CoA reductase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565966	Far2	fatty acyl CoA reductase 2	gene	DOID:10140	dry eye syndrome		ISS	RGD:1556953	D	RGD:13592920	20221103	MouseDO			
1565966	Far2	fatty acyl CoA reductase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565966	Far2	fatty acyl CoA reductase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565966	Far2	fatty acyl CoA reductase 2	gene	DOID:1115	sarcoma		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565966	Far2	fatty acyl CoA reductase 2	gene	DOID:1324	lung cancer		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565966	Far2	fatty acyl CoA reductase 2	gene	DOID:1909	melanoma		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565966	Far2	fatty acyl CoA reductase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344680	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565966	Far2	fatty acyl CoA reductase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565966	Far2	fatty acyl CoA reductase 2	gene	DOID:987	alopecia		ISS	RGD:1556953	D	RGD:13592920	20190103	MouseDO		OMIM:300042	
1565967	Arhgap36	Rho GTPase activating protein 36	gene	DOID:10534	stomach cancer		ISO	RGD:1603262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565967	Arhgap36	Rho GTPase activating protein 36	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565967	Arhgap36	Rho GTPase activating protein 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565967	Arhgap36	Rho GTPase activating protein 36	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565969	Ccny	cyclin Y	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565969	Ccny	cyclin Y	gene	DOID:10534	stomach cancer		ISO	RGD:1347341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565969	Ccny	cyclin Y	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565969	Ccny	cyclin Y	gene	DOID:4362	cervical cancer		ISO	RGD:1347341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565969	Ccny	cyclin Y	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565969	Ccny	cyclin Y	gene	DOID:8577	ulcerative colitis		ISO	RGD:1347341	D	RGD:11554173	20171121	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438405
1565969	Ccny	cyclin Y	gene	DOID:8778	Crohn's disease		ISO	RGD:1347341	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438405
1565969	Ccny	cyclin Y	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565973	Asb5	ankyrin repeat and SOCS box-containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1352084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565973	Asb5	ankyrin repeat and SOCS box-containing 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1565973	Asb5	ankyrin repeat and SOCS box-containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565983	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1565983	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:1115	sarcoma		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565983	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:1324	lung cancer		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565983	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:1909	melanoma		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1565983	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350631	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565983	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565983	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350631	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1565983	Apex2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565984	Usp35	ubiquitin specific peptidase 35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565984	Usp35	ubiquitin specific peptidase 35	gene	DOID:10534	stomach cancer		ISO	RGD:1353275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1565984	Usp35	ubiquitin specific peptidase 35	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1565984	Usp35	ubiquitin specific peptidase 35	gene	DOID:1115	sarcoma		ISO	RGD:1353275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1565984	Usp35	ubiquitin specific peptidase 35	gene	DOID:1324	lung cancer		ISO	RGD:1353275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565984	Usp35	ubiquitin specific peptidase 35	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1565984	Usp35	ubiquitin specific peptidase 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565984	Usp35	ubiquitin specific peptidase 35	gene	DOID:6039	uveal melanoma		ISO	RGD:1353275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1565984	Usp35	ubiquitin specific peptidase 35	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565984	Usp35	ubiquitin specific peptidase 35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565985	Ttc9	tetratricopeptide repeat domain 9	gene	DOID:2559	opiate dependence		ISO	RGD:1318967	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1565985	Ttc9	tetratricopeptide repeat domain 9	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:1318967	D	RGD:401851917|PMID:18438686	20231031	RGD		DNA:SNP:: (rs8688) (human)	
1565985	Ttc9	tetratricopeptide repeat domain 9	gene	DOID:4362	cervical cancer		ISO	RGD:1318967	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1565985	Ttc9	tetratricopeptide repeat domain 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565986	Zfp365	zinc finger protein 365	gene	DOID:0080600	COVID-19		ISO	RGD:1605085	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1565991	Nat14	N-acetyltransferase 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565991	Nat14	N-acetyltransferase 14	gene	DOID:1324	lung cancer		ISO	RGD:1601749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1565991	Nat14	N-acetyltransferase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565991	Nat14	N-acetyltransferase 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1565995	Shfl	shiftless antiviral inhibitor of ribosomal frameshifting	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1565995	Shfl	shiftless antiviral inhibitor of ribosomal frameshifting	gene	DOID:5041	esophageal cancer		ISO	RGD:1605065	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565995	Shfl	shiftless antiviral inhibitor of ribosomal frameshifting	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1565995	Shfl	shiftless antiviral inhibitor of ribosomal frameshifting	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1565995	Shfl	shiftless antiviral inhibitor of ribosomal frameshifting	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1565995	Shfl	shiftless antiviral inhibitor of ribosomal frameshifting	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1565997	Fancd2os	FANCD2 opposite strand	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1565997	Fancd2os	FANCD2 opposite strand	gene	DOID:0111083	Fanconi anemia complementation group D2		ISO	RGD:1603367	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group D2	PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:23285130|PMID:23613520|PMID:24728327|PMID:25741868|PMID:25927356|PMID:28492532|PMID:29625052|PMID:30256826|PMID:31586946|PMID:32546565|PMID:32581362|PMID:34308104|PMID:34585473|PMID:36463940|PMID:9536098
1565997	Fancd2os	FANCD2 opposite strand	gene	DOID:13636	Fanconi anemia		ISO	RGD:1603367	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:23285130|PMID:24728327|PMID:25741868|PMID:25927356|PMID:27041517|PMID:28492532|PMID:29625052|PMID:30250602|PMID:30256826|PMID:31586946|PMID:32546565|PMID:33270637|PMID:34308104|PMID:34585473|PMID:36463940|PMID:36622392|PMID:9536098
1565997	Fancd2os	FANCD2 opposite strand	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:11543633|RGD:11551143|RGD:12889512|RGD:152031749	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532
1565997	Fancd2os	FANCD2 opposite strand	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:11544933|RGD:11550818|RGD:11586851|RGD:11591078|RGD:150546128|RGD:152031735|RGD:152031738|RGD:152031742|RGD:152031745|RGD:152031753	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
1565997	Fancd2os	FANCD2 opposite strand	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:11544933|RGD:11550818|RGD:11586851|RGD:11591078|RGD:150546128|RGD:152031735|RGD:152031738|RGD:152031742|RGD:152031745|RGD:152031753|RGD:152031755	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
1565999	Sdr16c5	short chain dehydrogenase/reductase family 16C, member 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1565999	Sdr16c5	short chain dehydrogenase/reductase family 16C, member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1604728	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1565999	Sdr16c5	short chain dehydrogenase/reductase family 16C, member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566005	Flrt3	fibronectin leucine rich transmembrane protein 3	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1350548	D	RGD:11554173	20260203	CTD		CTD Direct Evidence: marker/mechanism	
1566005	Flrt3	fibronectin leucine rich transmembrane protein 3	gene	DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia		ISO	RGD:1350548	D	RGD:7240710	20140911	OMIM			
1566005	Flrt3	fibronectin leucine rich transmembrane protein 3	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1350548	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:21240277|PMID:25741868|PMID:28492532|PMID:31300551
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347724	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:0090066	Fanconi-like syndrome		ISS	RGD:1557108	D	RGD:13592920	20180518	MouseDO		OMIM:227850	
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:0111092	Fanconi anemia complementation group P		ISO	RGD:1347724	D	RGD:7240710	20140911	OMIM			
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:0111092	Fanconi anemia complementation group P		ISO	RGD:1347724	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP P | ClinVar Annotator: match by term: Fanconi anemia complementation group P | ClinVar Annotator: match by term: SLX4-related condition	PMID:17576681|PMID:21240275|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:24763404|PMID:25741868|PMID:27153395|PMID:28492532|PMID:28678401|PMID:29344583|PMID:29641532|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:31921681|PMID:32368696|PMID:32546565|PMID:35885997|PMID:36622392|PMID:37536918|PMID:9536098
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1347724	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A	PMID:21240277|PMID:22911665|PMID:25741868|PMID:28202063|PMID:28492532
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1347724	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:10907	microcephaly		ISO	RGD:1347724	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:11162	respiratory failure		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:21240277|PMID:25741868|PMID:28492532|PMID:31300551
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:11830	myopia		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:21240277|PMID:25741868|PMID:28492532|PMID:31300551
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:13636	Fanconi anemia		ISO	RGD:1347724	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21240275|PMID:21240276|PMID:21240277
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:13636	Fanconi anemia		ISO	RGD:1347724	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29607586|PMID:29868112|PMID:29915322|PMID:30306255|PMID:30613976|PMID:31300551|PMID:32368696|PMID:33270637|PMID:9536098
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:13636	Fanconi anemia		ISO	RGD:1347724	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:2291166|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:29915322|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33606809|PMID:9536098
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:13636	Fanconi anemia		ISO	RGD:1347724	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240275|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:2291166|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24037726|PMID:24733792|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28125078|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:29915322|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33558524|PMID:33606809|PMID:9536098
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:13636	Fanconi anemia		ISO	RGD:1347724	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:19763152|PMID:20307669|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:22406018|PMID:22911665|PMID:23211700|PMID:23840564|PMID:24037726|PMID:24733792|PMID:24763404|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26689913|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28678401|PMID:29344583|PMID:29868112|PMID:29915322|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:35739278|PMID:35885997|PMID:36041235|PMID:36463940|PMID:36622392|PMID:36627197|PMID:38349998|PMID:9536098
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:1596	depressive disorder		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:21240277|PMID:25741868|PMID:28492532|PMID:31300551
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:1612	breast cancer		ISO	RGD:1347724	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast Cancer	
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:1909	melanoma		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:28492532|PMID:9536098
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:2030	anxiety disorder		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:21240277|PMID:25741868|PMID:28492532|PMID:31300551
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:2841	asthma		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:21240277|PMID:25741868|PMID:28492532|PMID:31300551
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:3068	glioblastoma		ISO	RGD:1347724	D	RGD:8554872	20190409	ClinVar		ClinVar Annotator: match by term: Glioblastoma multiforme	PMID:25741868
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:3459	breast carcinoma		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:28492532
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1347724	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1	PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:25741868|PMID:26201965|PMID:28202063|PMID:28492532
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:630	genetic disease		ISO	RGD:1347724	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:687	hepatoblastoma		ISO	RGD:1347724	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:25741868|PMID:28492532
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:1347724	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	PMID:25741868
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347724	D	RGD:8554872	20200410	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:22911665|PMID:25741868|PMID:28492532|PMID:28678401|PMID:30613976|PMID:32546565
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347724	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:22911665|PMID:25741868|PMID:28492532|PMID:28678401
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566009	Slx4	SLX4 structure-specific endonuclease subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0050593	primary congenital glaucoma		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary congenital glaucoma	PMID:25741868|PMID:28492532
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0060321	umbilical hernia		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868|PMID:28492532
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0090001	Fraser syndrome		ISO	RGD:1347992	D	RGD:11554173	20181120	CTD		CTD Direct Evidence: marker/mechanism	PMID:17163535
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0090001	Fraser syndrome		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptophthalmos with other malformations	PMID:18203166|PMID:25741868|PMID:26552811|PMID:28492532
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0090001	Fraser syndrome		ISS	RGD:1622040	D	RGD:13592920	20230718	MouseDO			
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0111405	Fraser syndrome 1		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 1	PMID:18203166|PMID:25741868|PMID:26552811|PMID:28492532
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0111407	Fraser syndrome 2		IAGP		D	RGD:126781714|PMID:23336369	20231005	RGD			
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0111407	Fraser syndrome 2		IAGP		D	RGD:13464328|PMID:21756877	20180103	RGD			
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0111407	Fraser syndrome 2		ISO	RGD:1347992	D	RGD:7240710	20190315	OMIM			
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0111407	Fraser syndrome 2		ISO	RGD:1347992	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FRASER SYNDROME 2 | ClinVar Annotator: match by term: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2	PMID:15838507|PMID:18203166|PMID:18671281|PMID:24700879|PMID:25741868|PMID:26275891|PMID:26552811|PMID:28492532|PMID:29618029|PMID:29688405|PMID:30143558|PMID:30773290|PMID:30802441|PMID:30838450|PMID:31831576|PMID:34408272|PMID:34837691|PMID:37353797
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0111716	cryptophthalmia		ISO	RGD:1347992	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cryptophthalmia	PMID:18203166|PMID:25741868|PMID:26552811|PMID:28492532
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0111717	isolated cryptophthalmia		ISO	RGD:1347992	D	RGD:7240710	20200325	OMIM			
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0111717	isolated cryptophthalmia		ISO	RGD:1347992	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: ANKYLOBLEPHARON, SIMPLE | ClinVar Annotator: match by term: CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED | ClinVar Annotator: match by term: Cryptophthalmos, unilateral or bilateral, isolated | ClinVar Annotator: match by term: Isolated cryptophthalmia	PMID:18203166|PMID:24700879|PMID:25741868|PMID:26552811|PMID:28492532|PMID:29618029|PMID:29688405|PMID:30143558|PMID:30802441|PMID:30838450|PMID:31831576|PMID:34408272|PMID:37353797
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:0111717	isolated cryptophthalmia		ISS	RGD:1622040	D	RGD:13592920	20230718	MouseDO		OMIM:123570	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:10283	prostate cancer		ISO	RGD:1347992	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:10283	prostate cancer		ISO	RGD:1347992	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:1068	juvenile glaucoma		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma of childhood	PMID:25741868|PMID:28492532
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:1115	sarcoma		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:11211	buphthalmos		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Buphthalmos	PMID:25741868|PMID:28492532
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:1324	lung cancer		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:13757	excessive tearing		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epiphora	PMID:25741868|PMID:28492532
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:1686	glaucoma		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:25741868|PMID:28492532
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:1909	melanoma		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:1923	disorder of sexual development		ISO	RGD:1347992	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:18203166|PMID:25741868|PMID:26552811|PMID:28492532
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347992	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:5419	schizophrenia		ISO	RGD:1347992	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:630	genetic disease		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:37353797
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1347992	D	RGD:8554872	20151208	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
1566012	Frem2	FRAS1 related extracellular matrix 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1347992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532
1566016	Srgap2	SLIT-ROBO Rho GTPase activating protein 2	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:1603684	D	RGD:8554872	20190723	ClinVar		ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy	PMID:25741868
1566016	Srgap2	SLIT-ROBO Rho GTPase activating protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1603684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1566016	Srgap2	SLIT-ROBO Rho GTPase activating protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1603684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:0080445	developmental and epileptic encephalopathy 13		ISO	RGD:1350407	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13	PMID:25741868
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350407	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1350407	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:893	Wilson disease		ISO	RGD:1350407	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Wilson disease	PMID:25741868
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:9002761	Dyschromatosis Universalis Hereditaria 1		ISO	RGD:1350407	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:9002761	Dyschromatosis Universalis Hereditaria 1		ISO	RGD:1350407	D	RGD:7240710	20190403	OMIM			
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:9002761	Dyschromatosis Universalis Hereditaria 1		ISO	RGD:1350407	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1 | ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 1	PMID:23333244|PMID:25741868|PMID:26203640|PMID:27659786|PMID:27840890|PMID:27885802|PMID:29956681|PMID:32981204|PMID:37056170
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:9008147	Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma		ISO	RGD:1350407	D	RGD:7240710	20190424	OMIM			
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:9008147	Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | ClinVar Annotator: match by term: SASH1-related condition	PMID:25741868|PMID:28492532
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1566017	Sash1	SAM and SH3 domain containing 1	gene	DOID:987	alopecia		ISO	RGD:1350407	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: alopecia	
1566019	C4h2orf81	similar to human chromosome 2 open reading frame 81	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2298834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566020	Stap2	signal transducing adaptor family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566020	Stap2	signal transducing adaptor family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566020	Stap2	signal transducing adaptor family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566020	Stap2	signal transducing adaptor family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566020	Stap2	signal transducing adaptor family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566020	Stap2	signal transducing adaptor family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566020	Stap2	signal transducing adaptor family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566020	Stap2	signal transducing adaptor family member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566020	Stap2	signal transducing adaptor family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601996	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566020	Stap2	signal transducing adaptor family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566020	Stap2	signal transducing adaptor family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566020	Stap2	signal transducing adaptor family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566020	Stap2	signal transducing adaptor family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566025	Pinx1	PIN2/TERF1 interacting, telomerase inhibitor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566025	Pinx1	PIN2/TERF1 interacting, telomerase inhibitor 1	gene	DOID:1115	sarcoma		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566025	Pinx1	PIN2/TERF1 interacting, telomerase inhibitor 1	gene	DOID:1324	lung cancer		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566025	Pinx1	PIN2/TERF1 interacting, telomerase inhibitor 1	gene	DOID:1909	melanoma		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566025	Pinx1	PIN2/TERF1 interacting, telomerase inhibitor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566025	Pinx1	PIN2/TERF1 interacting, telomerase inhibitor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566025	Pinx1	PIN2/TERF1 interacting, telomerase inhibitor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566025	Pinx1	PIN2/TERF1 interacting, telomerase inhibitor 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1606271	D	RGD:152977752|PMID:27221889	20220602	RGD		associated with Chronic Hepatitis B; DNA:SNP::rs1469557(human)	
1566025	Pinx1	PIN2/TERF1 interacting, telomerase inhibitor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1566025	Pinx1	PIN2/TERF1 interacting, telomerase inhibitor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:0110604	primary ciliary dyskinesia 18		ISO	RGD:1606283	D	RGD:7240710	20190315	OMIM			
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:0110604	primary ciliary dyskinesia 18		ISO	RGD:1606283	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 18, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DNAAF5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 18	PMID:17576681|PMID:20301301|PMID:23040496|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29358401|PMID:29363216|PMID:32367404|PMID:37104040|PMID:9536098
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:0110604	primary ciliary dyskinesia 18		ISS	RGD:1615463	D	RGD:13592920	20260129	MouseDO		OMIM:614874	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:10534	stomach cancer		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:12336	male infertility		ISS	RGD:1615463	D	RGD:13592920	20240111	MouseDO			
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:1324	lung cancer		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:3275	thymoma		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1606283	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:5419	schizophrenia		ISO	RGD:1606283	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566028	Dnaaf5	dynein, axonemal, assembly factor 5	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1606283	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:20301301|PMID:23040496|PMID:24033266|PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532|PMID:29358401|PMID:29363216|PMID:37104040|PMID:9536098
1566029	Shisal1	shisa like 1	gene	DOID:1324	lung cancer		ISO	RGD:2303456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:0050735	X-linked monogenic disease		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked inheritance	PMID:25741868
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:0060249	scoliosis		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:0112018	non-syndromic X-linked intellectual disability 104		ISO	RGD:1353602	D	RGD:7240710	20190315	OMIM			
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:0112018	non-syndromic X-linked intellectual disability 104		ISO	RGD:1353602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FRMPD4-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104	PMID:25741868|PMID:28492532|PMID:29758562
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:1059	intellectual disability		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:35887114
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:10907	microcephaly		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:11383	cryptorchidism		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:1143	exotropia		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:12849	autistic disorder		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 4 | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:26394714|PMID:35887114
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:1510	personality disorder		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Personality disorder	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:1826	epilepsy		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:2841	asthma		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:3070	high grade glioma		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:540	strabismus		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:5419	schizophrenia		IEP		D	RGD:11054158|PMID:25778620	20250428	RGD		protein:decreased expression:dorsolateral prefrontal cortex	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:630	genetic disease		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19118189|PMID:25741868
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:674	cleft palate		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:8927	learning disability		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9000495	Tremor		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9001031	Retrognathia		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9003133	Hypertelorism		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:35887114
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9003507	Premature Birth		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9003760	Myalgia		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353602	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: X-linked complex neurodevelopmental disorder	PMID:25741868
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9009047	Laryngeal Cleft		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Laryngeal cleft	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:930	orbital disease		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868|PMID:35887114
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
1566031	Frmpd4	FERM and PDZ domain containing 4	gene	DOID:9834	hyperopia		ISO	RGD:1353602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:0060058	lymphoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:0061013	ovarian dysgenesis 9		ISO	RGD:1603315	D	RGD:7240710	20211222	OMIM			
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:0061013	ovarian dysgenesis 9		ISO	RGD:1603315	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OVARIAN DYSGENESIS 9 | ClinVar Annotator: match by term: Ovarian dysgenesis 9	PMID:25741868
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1603315	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:10534	stomach cancer		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:1909	melanoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:2394	ovarian cancer		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:3275	thymoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:4362	cervical cancer		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:5041	esophageal cancer		ISO	RGD:1603315	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603315	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566036	Spidr	scaffold protein involved in DNA repair	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566039	Umodl1	uromodulin-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566039	Umodl1	uromodulin-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566039	Umodl1	uromodulin-like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351162	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
1566039	Umodl1	uromodulin-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566039	Umodl1	uromodulin-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1351162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566039	Umodl1	uromodulin-like 1	gene	DOID:1324	lung cancer		ISO	RGD:1351162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566039	Umodl1	uromodulin-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566039	Umodl1	uromodulin-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566039	Umodl1	uromodulin-like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566039	Umodl1	uromodulin-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566039	Umodl1	uromodulin-like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566039	Umodl1	uromodulin-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566041	Tuba8	tubulin, alpha 8	gene	DOID:0060058	lymphoma		ISO	RGD:1352677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1566041	Tuba8	tubulin, alpha 8	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1352677	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1566041	Tuba8	tubulin, alpha 8	gene	DOID:0060337	CEDNIK syndrome		ISO	RGD:1352677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEDNIK syndrome	PMID:18414213|PMID:25741868|PMID:28492532|PMID:34853893
1566041	Tuba8	tubulin, alpha 8	gene	DOID:0060995	autosomal dominant isolated macrothrombocytopenia 2		ISO	RGD:1352677	D	RGD:7240710	20220504	OMIM			
1566041	Tuba8	tubulin, alpha 8	gene	DOID:0060995	autosomal dominant isolated macrothrombocytopenia 2		ISO	RGD:1352677	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: MACROTHROMBOCYTOPENIA, ISOLATED, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 2, autosomal dominant | ClinVar Annotator: match by term: TUBA8-related condition	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34704371
1566041	Tuba8	tubulin, alpha 8	gene	DOID:10907	microcephaly		ISO	RGD:1352677	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:31481326
1566041	Tuba8	tubulin, alpha 8	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1352677	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:25741868
1566041	Tuba8	tubulin, alpha 8	gene	DOID:1324	lung cancer		ISO	RGD:1352677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566041	Tuba8	tubulin, alpha 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1352677	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566041	Tuba8	tubulin, alpha 8	gene	DOID:9006626	Parkinson's Disease 5		ISO	RGD:1352677	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Parkinson disease 5, autosomal dominant, susceptibility to	
1566041	Tuba8	tubulin, alpha 8	gene	DOID:9006775	Polymicrogyria with Optic Nerve Hypoplasia		ISO	RGD:1352677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria with optic nerve hypoplasia	PMID:18414213|PMID:25741868|PMID:28492532|PMID:34853893|PMID:38374194
1566041	Tuba8	tubulin, alpha 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566042	Tmem255b	transmembrane protein 255B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566042	Tmem255b	transmembrane protein 255B	gene	DOID:1324	lung cancer		ISO	RGD:1602045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566042	Tmem255b	transmembrane protein 255B	gene	DOID:3275	thymoma		ISO	RGD:1602045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566042	Tmem255b	transmembrane protein 255B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566042	Tmem255b	transmembrane protein 255B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566042	Tmem255b	transmembrane protein 255B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566044	Fpr3	formyl peptide receptor 3	gene	DOID:0080600	COVID-19		ISO	RGD:1350649	D	RGD:9068941	20260521	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352223	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:0070532	aniridia 1		ISO	RGD:1352223	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aniridia 1	
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:11599116|RGD:11599246|RGD:11599264|RGD:11599292|RGD:11599475|RGD:11600178|RGD:11600268|RGD:11600279|RGD:11600325|RGD:11600473|RGD:11600671|RGD:11600825|RGD:11600949|RGD:11601140|RGD:11601286|RGD:11601429|RGD:11601655|RGD:11602169|RGD:11612602|RGD:11612625|RGD:11612694|RGD:11612749|RGD:11612809|RGD:11612815|RGD:11612860|RGD:11612938|RGD:11613302|RGD:11613311|RGD:11613818|RGD:11613985|RGD:11614013|RGD:11614267|RGD:11614362|RGD:11614735|RGD:11615188|RGD:11615469|RGD:11616152|RGD:11616600|RGD:11617002|RGD:11644438|RGD:11644607|RGD:11644638|RGD:11645271|RGD:11645555|RGD:11645677|RGD:11647215|RGD:11647264|RGD:11647995|RGD:11648214|RGD:11649020|RGD:11649667|RGD:11650342|RGD:11650548|RGD:11651004|RGD:28897959|RGD:28898733|RGD:28899237|RGD:28899455|RGD:28899463|RGD:28900461|RGD:28900718|RGD:28901188|RGD:28901676|RGD:28901903|RGD:28901911|RGD:28902607|RGD:28902613|RGD:28903621|RGD:28905116|RGD:28905459|RGD:28905636|RGD:28906088|RGD:28906724|RGD:28907072|RGD:28907401|RGD:28907541|RGD:28907688|RGD:28907887|RGD:28908458|RGD:28909141|RGD:28909332|RGD:28909341	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome	
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:12271	aniridia		ISO	RGD:1352223	D	RGD:11554173	20190402	CTD		CTD Direct Evidence: marker/mechanism	
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:14515	WAGR syndrome		ISO	RGD:1352223	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: WAGR Complex	PMID:25741868|PMID:28492532
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:3070	high grade glioma		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1352223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:9003911	Aniridia 2		ISO	RGD:1352223	D	RGD:7240710	20190327	OMIM			
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:9003911	Aniridia 2		ISO	RGD:1352223	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Aniridia 2 | ClinVar Annotator: match by term: ELP4-related condition	PMID:25741868|PMID:26010655|PMID:28492532
1566052	Elp4	elongator acetyltransferase complex subunit 4	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1352223	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1566053	Svopl	SVOP like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566053	Svopl	SVOP like	gene	DOID:1324	lung cancer		ISO	RGD:1603906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566053	Svopl	SVOP like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566053	Svopl	SVOP like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566053	Svopl	SVOP like	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1603906	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	
1566053	Svopl	SVOP like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:0070745	early-onset progressive encephalopathy with brain atrophy and spasticity		ISO	RGD:1343529	D	RGD:7240710	20190315	OMIM			
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:0070745	early-onset progressive encephalopathy with brain atrophy and spasticity		ISO	RGD:1343529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | ClinVar Annotator: match by term: Progressive childhood encephalopathy | ClinVar Annotator: match by term: TRAPPC12-related condition	PMID:25741868|PMID:28492532|PMID:28777934
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:10534	stomach cancer		ISO	RGD:1343529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17576681|PMID:28492532|PMID:32347653|PMID:9536098
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:10907	microcephaly		ISO	RGD:1343529	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28777934
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:10908	hydrocephalus		ISO	RGD:1343529	D	RGD:8554872	20210420	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:1115	sarcoma		ISO	RGD:1343529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:1826	epilepsy		ISO	RGD:1343529	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28777934
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:3275	thymoma		ISO	RGD:1343529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:4362	cervical cancer		ISO	RGD:1343529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:630	genetic disease		ISO	RGD:1343529	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:9000815	Aortic Calcification		ISO	RGD:1343529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal aortic calcification	PMID:25741868
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1343529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1343529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1566054	Trappc12	trafficking protein particle complex subunit 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566056	Zfp777	zinc finger protein 777	gene	DOID:10534	stomach cancer		ISO	RGD:1604021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566056	Zfp777	zinc finger protein 777	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566056	Zfp777	zinc finger protein 777	gene	DOID:1324	lung cancer		ISO	RGD:1604021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566056	Zfp777	zinc finger protein 777	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566056	Zfp777	zinc finger protein 777	gene	DOID:3275	thymoma		ISO	RGD:1604021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566056	Zfp777	zinc finger protein 777	gene	DOID:4362	cervical cancer		ISO	RGD:1604021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566056	Zfp777	zinc finger protein 777	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566058	Cog7	component of oligomeric golgi complex 7	gene	DOID:0070257	congenital disorder of glycosylation type IIe		ISO	RGD:1349178	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1566058	Cog7	component of oligomeric golgi complex 7	gene	DOID:0070257	congenital disorder of glycosylation type IIe		ISO	RGD:1349178	D	RGD:7240710	20130221	OMIM			
1566058	Cog7	component of oligomeric golgi complex 7	gene	DOID:0070257	congenital disorder of glycosylation type IIe		ISO	RGD:1349178	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDG IIe | ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe	PMID:16199547|PMID:17576681|PMID:19577670|PMID:19763152|PMID:20307669|PMID:21811164|PMID:22406018|PMID:25741868|PMID:25741869|PMID:28492532|PMID:30653653|PMID:31785789|PMID:9536098
1566058	Cog7	component of oligomeric golgi complex 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566058	Cog7	component of oligomeric golgi complex 7	gene	DOID:1324	lung cancer		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566058	Cog7	component of oligomeric golgi complex 7	gene	DOID:3275	thymoma		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566058	Cog7	component of oligomeric golgi complex 7	gene	DOID:4195	hyperglycemia		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperglycemia	PMID:21811164|PMID:28492532
1566058	Cog7	component of oligomeric golgi complex 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1349178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566058	Cog7	component of oligomeric golgi complex 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566058	Cog7	component of oligomeric golgi complex 7	gene	DOID:630	genetic disease		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:21811164|PMID:25741868|PMID:28492532|PMID:30653653
1566058	Cog7	component of oligomeric golgi complex 7	gene	DOID:630	genetic disease	susceptibility	ISO	RGD:1349178	D	RGD:1600879|PMID:15107842	20070329	RGD		congenital disorder of glycosylation, type IIe, OMIM:608779;DNA:transversion:intron:IVS1+4A>C	
1566058	Cog7	component of oligomeric golgi complex 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566058	Cog7	component of oligomeric golgi complex 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566059	Or4f5	olfactory receptor family 4 subfamily F member 5	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1346395	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868
1566062	Mettl5	methyltransferase 5, N6-adenosine	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566062	Mettl5	methyltransferase 5, N6-adenosine	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566062	Mettl5	methyltransferase 5, N6-adenosine	gene	DOID:0080765	autosomal recessive intellectual developmental disorder 72		ISO	RGD:1606016	D	RGD:7240710	20191211	OMIM			
1566062	Mettl5	methyltransferase 5, N6-adenosine	gene	DOID:0080765	autosomal recessive intellectual developmental disorder 72		ISO	RGD:1606016	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 72 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 72	PMID:25741868|PMID:28492532|PMID:28940097|PMID:31130284|PMID:36305450
1566062	Mettl5	methyltransferase 5, N6-adenosine	gene	DOID:10534	stomach cancer		ISO	RGD:1606016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566062	Mettl5	methyltransferase 5, N6-adenosine	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566062	Mettl5	methyltransferase 5, N6-adenosine	gene	DOID:1115	sarcoma		ISO	RGD:1606016	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566062	Mettl5	methyltransferase 5, N6-adenosine	gene	DOID:5041	esophageal cancer		ISO	RGD:1606016	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566062	Mettl5	methyltransferase 5, N6-adenosine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566062	Mettl5	methyltransferase 5, N6-adenosine	gene	DOID:630	genetic disease		ISO	RGD:1606016	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1566062	Mettl5	methyltransferase 5, N6-adenosine	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566062	Mettl5	methyltransferase 5, N6-adenosine	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566063	Kctd2	potassium channel tetramerization domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566063	Kctd2	potassium channel tetramerization domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1348745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566063	Kctd2	potassium channel tetramerization domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1348745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566063	Kctd2	potassium channel tetramerization domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348745	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566063	Kctd2	potassium channel tetramerization domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566063	Kctd2	potassium channel tetramerization domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566063	Kctd2	potassium channel tetramerization domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:10534	stomach cancer		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:1115	sarcoma		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:1324	lung cancer		ISO	RGD:1351775	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:1909	melanoma		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:3070	high grade glioma		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:4362	cervical cancer		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:5041	esophageal cancer		ISO	RGD:1351775	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351775	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566064	Prrc2c	proline-rich coiled-coil 2C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:17670792|PMID:17765544|PMID:18332221|PMID:18591431|PMID:18820033|PMID:20829512|PMID:25022758|PMID:26527617|PMID:27662902|PMID:3372592
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:0080600	COVID-19		ISO	RGD:1315227	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:1115	sarcoma		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:11198	DiGeorge syndrome		ISS	RGD:1315228	D	RGD:13592920	20180518	MouseDO		OMIM:188400	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:12849	autistic disorder		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:1324	lung cancer		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:1909	melanoma		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:303	substance-related disorder		ISO	RGD:1315227	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:3070	high grade glioma		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:3275	thymoma		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:630	genetic disease		ISO	RGD:1315227	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17670792|PMID:17765544|PMID:18332221|PMID:18591431|PMID:18820033|PMID:20829512|PMID:25022758|PMID:26527617|PMID:27662902|PMID:3372592
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:6419	tetralogy of Fallot		ISS	RGD:1315228	D	RGD:13592920	20180518	MouseDO		OMIM:187500	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:9006281	Temporomandibular Joint Disorders		ISO	RGD:1315227	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Temporomandibular joint disorder	PMID:25741868
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:17670792|PMID:17765544|PMID:18332221|PMID:18591431|PMID:18820033|PMID:20829512|PMID:25022758|PMID:26527617|PMID:27662902|PMID:3372592
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1566072	Dock1	dedicator of cyto-kinesis 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566074	Rbm44	RNA binding motif protein 44	gene	DOID:4362	cervical cancer		ISO	RGD:1625816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566074	Rbm44	RNA binding motif protein 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566074	Rbm44	RNA binding motif protein 44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1625816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566076	Serp2	stress-associated endoplasmic reticulum protein family member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1346471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1566082	Rassf6	Ras association domain family member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566082	Rassf6	Ras association domain family member 6	gene	DOID:1324	lung cancer		ISO	RGD:1605848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566082	Rassf6	Ras association domain family member 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566082	Rassf6	Ras association domain family member 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1566082	Rassf6	Ras association domain family member 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1566082	Rassf6	Ras association domain family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566082	Rassf6	Ras association domain family member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566084	Prr36	proline rich 36	gene	DOID:1115	sarcoma		ISO	RGD:9588105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566084	Prr36	proline rich 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:9588105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566084	Prr36	proline rich 36	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:9588105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566090	Slc60a1	solute carrier family 60 member 1	gene	DOID:0060058	lymphoma		ISO	RGD:1605282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1566090	Slc60a1	solute carrier family 60 member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566090	Slc60a1	solute carrier family 60 member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566090	Slc60a1	solute carrier family 60 member 1	gene	DOID:1115	sarcoma		ISO	RGD:1605282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566090	Slc60a1	solute carrier family 60 member 1	gene	DOID:1324	lung cancer		ISO	RGD:1605282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566090	Slc60a1	solute carrier family 60 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566090	Slc60a1	solute carrier family 60 member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605282	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566090	Slc60a1	solute carrier family 60 member 1	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1605282	D	RGD:152998978|PMID:31687280	20220714	RGD		mRNA:altered expression:liver (human)	
1566090	Slc60a1	solute carrier family 60 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566090	Slc60a1	solute carrier family 60 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566090	Slc60a1	solute carrier family 60 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566094	Btbd2	BTB domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566094	Btbd2	BTB domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1344972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566094	Btbd2	BTB domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1344972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566094	Btbd2	BTB domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1344972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566094	Btbd2	BTB domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566094	Btbd2	BTB domain containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:14698817	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
1566094	Btbd2	BTB domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566094	Btbd2	BTB domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566098	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566098	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566098	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:10534	stomach cancer		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566098	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:1909	melanoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566098	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:3275	thymoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566098	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566098	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345996	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1566098	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566098	Mcf2	MCF.2 cell line derived transforming sequence	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566099	C13h1orf53	similar to human chromosome 1 open reading frame 53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566103	Niban3	niban apoptosis regulator 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566103	Niban3	niban apoptosis regulator 3	gene	DOID:1115	sarcoma		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566103	Niban3	niban apoptosis regulator 3	gene	DOID:1324	lung cancer		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566103	Niban3	niban apoptosis regulator 3	gene	DOID:1909	melanoma		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566103	Niban3	niban apoptosis regulator 3	gene	DOID:3275	thymoma		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566103	Niban3	niban apoptosis regulator 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566103	Niban3	niban apoptosis regulator 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566103	Niban3	niban apoptosis regulator 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1606026	D	RGD:11554173	20181016	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1606026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:1909	melanoma		ISO	RGD:1606026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1606026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1606026	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:3275	thymoma		ISO	RGD:1606026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:9006608	Lung Carcinoid Tumors	severity	ISO	RGD:1606026	D	RGD:151660336|PMID:25105010	20220303	RGD		mRNA:decreased expression:lung (human)	
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1606026	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30100398
1566107	Creb5	cAMP responsive element binding protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:0070311	oligoasthenoteratozoospermia		ISO	RGD:1346589	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: oligoasthenoteratozoospermia	PMID:32376790
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1346589	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:24705251|PMID:27993330|PMID:28912153
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:0081316	primary intracranial sarcoma, DICER1-mutant		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary intracranial sarcoma, DICER1-mutant	PMID:27993330
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:0111841	Shukla-Vernon syndrome		ISO	RGD:1346589	D	RGD:7240710	20190821	OMIM			
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:0111841	Shukla-Vernon syndrome		ISO	RGD:1346589	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BCORL1-related condition | ClinVar Annotator: match by term: SHUKLA-VERNON SYNDROME | ClinVar Annotator: match by term: Shukla-Vernon syndrome	PMID:23092983|PMID:24047651|PMID:24896186|PMID:25596268|PMID:25741868|PMID:26132940|PMID:26879601|PMID:26980726|PMID:27470916|PMID:28492532|PMID:29692343|PMID:33810051|PMID:34716235|PMID:35178361|PMID:36553572
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:1059	intellectual disability		ISO	RGD:1346589	D	RGD:8554872	20210209	ClinVar		ClinVar Annotator: match by term: mild intellectual disability	PMID:25741868
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:10907	microcephaly		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:1115	sarcoma		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:12849	autistic disorder		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:1826	epilepsy		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:2154	nephroblastoma		ISO	RGD:1346589	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1346589	D	RGD:11342082|PMID:26648304	20210830	RGD			
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:4188	echolalia		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:25741868
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:4769	pleuropulmonary blastoma		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleuropulmonary blastoma	PMID:27993330
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:17379597|PMID:22210327|PMID:24705251|PMID:27993330|PMID:28912153|PMID:30051528
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1346589	D	RGD:150340705|PMID:29679906	20210830	RGD			
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346589	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566108	Bcorl1	BCL6 co-repressor-like 1	gene	DOID:9538	multiple myeloma		ISO	RGD:1346589	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
1566110	Clec1a	C-type lectin domain family 1, member A	gene	DOID:13564	aspergillosis		ISO	RGD:1343742	D	RGD:11554173	20190514	CTD		CTD Direct Evidence: marker/mechanism	
1566110	Clec1a	C-type lectin domain family 1, member A	gene	DOID:13564	aspergillosis		ISO	RGD:1343742	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASPERGILLOSIS, SUSCEPTIBILITY TO	PMID:25741868
1566110	Clec1a	C-type lectin domain family 1, member A	gene	DOID:13564	aspergillosis	susceptibility	ISO	RGD:1343742	D	RGD:7240710	20190502	OMIM			
1566112	Plekhd1	pleckstrin homology and coiled-coil domain containing D1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566112	Plekhd1	pleckstrin homology and coiled-coil domain containing D1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566112	Plekhd1	pleckstrin homology and coiled-coil domain containing D1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1347482	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
1566117	Ttll7	tubulin tyrosine ligase like 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605943	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566117	Ttll7	tubulin tyrosine ligase like 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566117	Ttll7	tubulin tyrosine ligase like 7	gene	DOID:1909	melanoma		ISO	RGD:1605943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566117	Ttll7	tubulin tyrosine ligase like 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566117	Ttll7	tubulin tyrosine ligase like 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566117	Ttll7	tubulin tyrosine ligase like 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1605943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1566119	H2ax	H2A.X variant histone	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1346464	D	RGD:150340604|PMID:29928356	20210818	RGD		protein:increased expression:mucosa of oral region (human)	
1566119	H2ax	H2A.X variant histone	gene	DOID:10763	hypertension	treatment	IDA		D	RGD:8693672|PMID:24239235	20140722	RGD			
1566119	H2ax	H2A.X variant histone	gene	DOID:1824	status epilepticus		IDA		D	RGD:8693708|PMID:21613478	20140718	RGD		protein:increased phosphorylation:brain	
1566119	H2ax	H2A.X variant histone	gene	DOID:224	transient cerebral ischemia	treatment	IDA		D	RGD:8693742|PMID:20830300	20140722	RGD			
1566119	H2ax	H2A.X variant histone	gene	DOID:3068	glioblastoma		ISO	RGD:1346464	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26651356
1566119	H2ax	H2A.X variant histone	gene	DOID:9002159	Liver Reperfusion Injury	treatment	IEP		D	RGD:8693718|PMID:23792534	20140721	RGD			
1566119	H2ax	H2A.X variant histone	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:1346464	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26231820
1566119	H2ax	H2A.X variant histone	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1346464	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18925433
1566119	H2ax	H2A.X variant histone	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:1558155	D	RGD:7240549|PMID:22384017	20140722	RGD			
1566119	H2ax	H2A.X variant histone	gene	DOID:9005779	Polyploidy		ISO	RGD:1346464	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25123929
1566119	H2ax	H2A.X variant histone	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	IEP		D	RGD:8693706|PMID:23726287	20140718	RGD			
1566119	H2ax	H2A.X variant histone	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1346464	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26651356
1566119	H2ax	H2A.X variant histone	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	IDA		D	RGD:8693741|PMID:23265463	20140722	RGD			
1566119	H2ax	H2A.X variant histone	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	IDA		D	RGD:8693739|PMID:23108649	20140722	RGD			
1566119	H2ax	H2A.X variant histone	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1346464	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18925433|PMID:21463514
1566119	H2ax	H2A.X variant histone	gene	DOID:916	liver benign neoplasm	treatment	IEP		D	RGD:8693737|PMID:23474136	20140722	RGD			
1566119	H2ax	H2A.X variant histone	gene	DOID:9655	oral mucosa leukoplakia	disease_progression	ISO	RGD:1346464	D	RGD:150340604|PMID:29928356	20210818	RGD		protein:increased expression:mucosa of oral region (human)	
1566120	Meikin	meiotic kinetochore factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:9685644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566120	Meikin	meiotic kinetochore factor	gene	DOID:1115	sarcoma		ISO	RGD:9685644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566120	Meikin	meiotic kinetochore factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:9685644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566120	Meikin	meiotic kinetochore factor	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:9685644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1566120	Meikin	meiotic kinetochore factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:9685644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566121	Flg2	filaggrin 2	gene	DOID:0070525	peeling skin syndrome 6		ISO	RGD:1603471	D	RGD:7240710	20190315	OMIM			
1566122	B9d2	B9 domain containing 2	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1603296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:25741868|PMID:28492532
1566122	B9d2	B9 domain containing 2	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1603296	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:25741868|PMID:28492532
1566122	B9d2	B9 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566122	B9d2	B9 domain containing 2	gene	DOID:0060340	ciliopathy		ISO	RGD:1603296	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ciliopathy	PMID:25741868|PMID:28492532
1566122	B9d2	B9 domain containing 2	gene	DOID:0061295	Meckel syndrome 10		ISO	RGD:1603296	D	RGD:7240710	20140911	OMIM			
1566122	B9d2	B9 domain containing 2	gene	DOID:0061295	Meckel syndrome 10		ISO	RGD:1603296	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 34 | ClinVar Annotator: match by term: MECKEL SYNDROME, TYPE 10 | ClinVar Annotator: match by term: Meckel syndrome, type 10	PMID:21763481|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:31411728|PMID:33234550
1566122	B9d2	B9 domain containing 2	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1603296	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica	PMID:25741868|PMID:28492532
1566122	B9d2	B9 domain containing 2	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1603296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:21763481|PMID:25741868|PMID:28492532
1566122	B9d2	B9 domain containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1603296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
1566122	B9d2	B9 domain containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1603296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1566122	B9d2	B9 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566122	B9d2	B9 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566124	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1605000	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
1566124	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:1605000	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome	PMID:11805166|PMID:12464671|PMID:12707396|PMID:14978175|PMID:15253708|PMID:15769810|PMID:15817495|PMID:16354237|PMID:16898497|PMID:17699384|PMID:18823551|PMID:19145239|PMID:19876656|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:23349334|PMID:23515051|PMID:23645318|PMID:24227627|PMID:24509478|PMID:25349199|PMID:25720465|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28658201|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:30013592|PMID:32604935
1566124	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566124	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:12336	male infertility		ISO	RGD:1605000	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Male infertility	
1566124	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566124	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566124	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566124	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605000	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566124	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566124	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
1566124	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566124	Axdnd1	axonemal dynein light chain domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566125	Defb2	defensin beta 2	gene	DOID:9004484	Sepsis	treatment	IMP		D	RGD:9685178|PMID:17177330	20141222	RGD			
1566127	Prss53	serine protease 53	gene	DOID:1115	sarcoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566127	Prss53	serine protease 53	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566127	Prss53	serine protease 53	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566127	Prss53	serine protease 53	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566127	Prss53	serine protease 53	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566127	Prss53	serine protease 53	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566127	Prss53	serine protease 53	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566130	Fbxo41	F-box protein 41	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566130	Fbxo41	F-box protein 41	gene	DOID:10534	stomach cancer		ISO	RGD:1351223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566130	Fbxo41	F-box protein 41	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566130	Fbxo41	F-box protein 41	gene	DOID:4362	cervical cancer		ISO	RGD:1351223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566130	Fbxo41	F-box protein 41	gene	DOID:5041	esophageal cancer		ISO	RGD:1351223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566130	Fbxo41	F-box protein 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566130	Fbxo41	F-box protein 41	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566130	Fbxo41	F-box protein 41	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566130	Fbxo41	F-box protein 41	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566140	Lrrc20	leucine rich repeat containing 20	gene	DOID:1115	sarcoma		ISO	RGD:1602483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566140	Lrrc20	leucine rich repeat containing 20	gene	DOID:3275	thymoma		ISO	RGD:1602483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566140	Lrrc20	leucine rich repeat containing 20	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566140	Lrrc20	leucine rich repeat containing 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566149	Fam222b	family with sequence similarity 222, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566149	Fam222b	family with sequence similarity 222, member B	gene	DOID:10534	stomach cancer		ISO	RGD:1603991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566149	Fam222b	family with sequence similarity 222, member B	gene	DOID:1909	melanoma		ISO	RGD:1603991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566149	Fam222b	family with sequence similarity 222, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566149	Fam222b	family with sequence similarity 222, member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566151	Il20rb	interleukin 20 receptor subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566151	Il20rb	interleukin 20 receptor subunit beta	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1623828	D	RGD:5037232|PMID:18246602	20110303	RGD		mRNA:increased expression:multiple	
1566151	Il20rb	interleukin 20 receptor subunit beta	gene	DOID:2394	ovarian cancer		ISO	RGD:1349896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1566151	Il20rb	interleukin 20 receptor subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566154	Yipf6	Yip1 domain family, member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566154	Yipf6	Yip1 domain family, member 6	gene	DOID:3275	thymoma		ISO	RGD:1605821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566154	Yipf6	Yip1 domain family, member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1605821	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566154	Yipf6	Yip1 domain family, member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566154	Yipf6	Yip1 domain family, member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566154	Yipf6	Yip1 domain family, member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566155	Vma21	vacuolar ATPase assembly factor VMA21	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566155	Vma21	vacuolar ATPase assembly factor VMA21	gene	DOID:0050760	X-linked myopathy with excessive autophagy		ISO	RGD:1604972	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1566155	Vma21	vacuolar ATPase assembly factor VMA21	gene	DOID:0050760	X-linked myopathy with excessive autophagy		ISO	RGD:1604972	D	RGD:7240710	20180912	OMIM			
1566155	Vma21	vacuolar ATPase assembly factor VMA21	gene	DOID:0050760	X-linked myopathy with excessive autophagy		ISO	RGD:1604972	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY | ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy	PMID:17576681|PMID:23315026|PMID:23850239|PMID:24488655|PMID:25741868|PMID:25809233|PMID:28492532|PMID:35015203|PMID:9536098
1566155	Vma21	vacuolar ATPase assembly factor VMA21	gene	DOID:1115	sarcoma		ISO	RGD:1604972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566155	Vma21	vacuolar ATPase assembly factor VMA21	gene	DOID:3275	thymoma		ISO	RGD:1604972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566155	Vma21	vacuolar ATPase assembly factor VMA21	gene	DOID:630	genetic disease		ISO	RGD:1604972	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1566155	Vma21	vacuolar ATPase assembly factor VMA21	gene	DOID:9005189	Vacuolar Myopathy		ISO	RGD:1604972	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autophagic vacuolar myopathy	PMID:25741868|PMID:28492532
1566155	Vma21	vacuolar ATPase assembly factor VMA21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566155	Vma21	vacuolar ATPase assembly factor VMA21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566155	Vma21	vacuolar ATPase assembly factor VMA21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566160	Gpr15lg	G protein-coupled receptor 15 ligand	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566160	Gpr15lg	G protein-coupled receptor 15 ligand	gene	DOID:1909	melanoma		ISO	RGD:1342639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566160	Gpr15lg	G protein-coupled receptor 15 ligand	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566163	Nrk	Nik related kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566163	Nrk	Nik related kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566163	Nrk	Nik related kinase	gene	DOID:1115	sarcoma		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566163	Nrk	Nik related kinase	gene	DOID:12849	autistic disorder		ISO	RGD:1344667	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism	
1566163	Nrk	Nik related kinase	gene	DOID:1324	lung cancer		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1566163	Nrk	Nik related kinase	gene	DOID:1909	melanoma		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566163	Nrk	Nik related kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1566163	Nrk	Nik related kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566163	Nrk	Nik related kinase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1566163	Nrk	Nik related kinase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1566163	Nrk	Nik related kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566163	Nrk	Nik related kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566167	Nol9	nucleolar protein 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566167	Nol9	nucleolar protein 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566167	Nol9	nucleolar protein 9	gene	DOID:1324	lung cancer		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566167	Nol9	nucleolar protein 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566167	Nol9	nucleolar protein 9	gene	DOID:3275	thymoma		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566167	Nol9	nucleolar protein 9	gene	DOID:4362	cervical cancer		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566167	Nol9	nucleolar protein 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1605957	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566167	Nol9	nucleolar protein 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566167	Nol9	nucleolar protein 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566167	Nol9	nucleolar protein 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1566167	Nol9	nucleolar protein 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566167	Nol9	nucleolar protein 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566170	Nxf7	nuclear RNA export factor 7	gene	DOID:630	genetic disease		ISO	RGD:1346108	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28106320|PMID:28492532
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:0080754	X-linked keratosis follicularis spinulosa decalvans		ISO	RGD:1342985	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:0080754	X-linked keratosis follicularis spinulosa decalvans		ISO	RGD:1342985	D	RGD:7240710	20130221	OMIM			
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:0080754	X-linked keratosis follicularis spinulosa decalvans		ISO	RGD:1342985	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED | ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked	PMID:20672378|PMID:20854407|PMID:25741868|PMID:28492532|PMID:33743732
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:0111821	ichthyosis follicularis-alopecia-photophobia syndrome 1		ISO	RGD:1342985	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:0111821	ichthyosis follicularis-alopecia-photophobia syndrome 1		ISO	RGD:1342985	D	RGD:7240710	20130221	OMIM			
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:0111821	ichthyosis follicularis-alopecia-photophobia syndrome 1		ISO	RGD:1342985	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IFAP SYNDROME 1 | ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome | ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome	PMID:25741868|PMID:28492532|PMID:34946966
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:0111847	osteogenesis imperfecta type 19		ISO	RGD:1342985	D	RGD:7240710	20190315	OMIM			
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:0111847	osteogenesis imperfecta type 19		ISO	RGD:1342985	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XIX | ClinVar Annotator: match by term: Osteogenesis imperfecta, type 19	PMID:25741868|PMID:27380894
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:0112012	X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques		ISO	RGD:1342985	D	RGD:7240710	20150708	OMIM			
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:0112012	X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques		ISO	RGD:1342985	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Olmsted syndrome, X-linked	PMID:25741868|PMID:28492532
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	PMID:25741868|PMID:28492532
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:1059	intellectual disability		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28492532
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:10907	microcephaly		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:1115	sarcoma		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1342985	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:25741868|PMID:28492532
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:28492532
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:3275	thymoma		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342985	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:630	genetic disease		ISO	RGD:1342985	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342985	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563831
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:9000972	Fever		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:28492532
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:9001031	Retrognathia		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:28492532
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wheezing	PMID:28492532
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566171	Mbtps2	membrane-bound transcription factor peptidase, site 2	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1342985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868|PMID:28492532
1566174	Trim58	tripartite motif-containing 58	gene	DOID:1115	sarcoma		ISO	RGD:1349557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566174	Trim58	tripartite motif-containing 58	gene	DOID:1324	lung cancer		ISO	RGD:1349557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566174	Trim58	tripartite motif-containing 58	gene	DOID:3070	high grade glioma		ISO	RGD:1349557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1566174	Trim58	tripartite motif-containing 58	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566174	Trim58	tripartite motif-containing 58	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566174	Trim58	tripartite motif-containing 58	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566176	Yeats2	YEATS domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566176	Yeats2	YEATS domain containing 2	gene	DOID:0111689	familial adult myoclonic epilepsy		ISO	RGD:1347752	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: benign adult familial myoclonic epilepsy	PMID:25741868
1566176	Yeats2	YEATS domain containing 2	gene	DOID:0111693	familial adult myoclonic epilepsy 4		ISO	RGD:1347752	D	RGD:7240710	20191225	OMIM			
1566176	Yeats2	YEATS domain containing 2	gene	DOID:0111693	familial adult myoclonic epilepsy 4		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 | ClinVar Annotator: match by term: YEATS2-related condition	PMID:25741868
1566176	Yeats2	YEATS domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566176	Yeats2	YEATS domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566176	Yeats2	YEATS domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566176	Yeats2	YEATS domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566176	Yeats2	YEATS domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566176	Yeats2	YEATS domain containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1566176	Yeats2	YEATS domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566176	Yeats2	YEATS domain containing 2	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1347752	D	RGD:11554173	20240206	CTD		CTD Direct Evidence: marker/mechanism	PMID:34686948
1566176	Yeats2	YEATS domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566176	Yeats2	YEATS domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347752	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566176	Yeats2	YEATS domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566176	Yeats2	YEATS domain containing 2	gene	DOID:9000918	Disease Progression		ISO	RGD:1347752	D	RGD:11554173	20220510	CTD		CTD Direct Evidence: marker/mechanism	PMID:34686948
1566176	Yeats2	YEATS domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1566176	Yeats2	YEATS domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566176	Yeats2	YEATS domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1347752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1566178	Klhl14	kelch-like family member 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566178	Klhl14	kelch-like family member 14	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1321388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1566178	Klhl14	kelch-like family member 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1321388	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566178	Klhl14	kelch-like family member 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566180	Wdr86	WD repeat domain 86	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566180	Wdr86	WD repeat domain 86	gene	DOID:1115	sarcoma		ISO	RGD:1604947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566180	Wdr86	WD repeat domain 86	gene	DOID:1324	lung cancer		ISO	RGD:1604947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566180	Wdr86	WD repeat domain 86	gene	DOID:3275	thymoma		ISO	RGD:1604947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566180	Wdr86	WD repeat domain 86	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566180	Wdr86	WD repeat domain 86	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566181	Dtx3	deltex E3 ubiquitin ligase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566181	Dtx3	deltex E3 ubiquitin ligase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1347578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566181	Dtx3	deltex E3 ubiquitin ligase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566181	Dtx3	deltex E3 ubiquitin ligase 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1347578	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151356
1566181	Dtx3	deltex E3 ubiquitin ligase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566191	Tmem132b	transmembrane protein 132B	gene	DOID:1909	melanoma		ISO	RGD:1606181	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21499247
1566191	Tmem132b	transmembrane protein 132B	gene	DOID:1909	melanoma		ISO	RGD:1606181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566191	Tmem132b	transmembrane protein 132B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566191	Tmem132b	transmembrane protein 132B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566199	Atad2b	ATPase family, AAA domain containing 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566199	Atad2b	ATPase family, AAA domain containing 2B	gene	DOID:0060058	lymphoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1566199	Atad2b	ATPase family, AAA domain containing 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566199	Atad2b	ATPase family, AAA domain containing 2B	gene	DOID:1115	sarcoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566199	Atad2b	ATPase family, AAA domain containing 2B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566199	Atad2b	ATPase family, AAA domain containing 2B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1566199	Atad2b	ATPase family, AAA domain containing 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566199	Atad2b	ATPase family, AAA domain containing 2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566199	Atad2b	ATPase family, AAA domain containing 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604011	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566199	Atad2b	ATPase family, AAA domain containing 2B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1566199	Atad2b	ATPase family, AAA domain containing 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566199	Atad2b	ATPase family, AAA domain containing 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566199	Atad2b	ATPase family, AAA domain containing 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566199	Atad2b	ATPase family, AAA domain containing 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:10534	stomach cancer		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:1324	lung cancer		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:2394	ovarian cancer		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:3275	thymoma		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:3312	bipolar disorder		ISO	RGD:1602056	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:4362	cervical cancer		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:5041	esophageal cancer		ISO	RGD:1602056	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566201	Thsd7a	thrombospondin type 1 domain containing 7A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566202	Phgr1	proline, histidine and glycine rich 1	gene	DOID:4362	cervical cancer		ISO	RGD:3398935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566204	Heatr6	HEAT repeat containing 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566204	Heatr6	HEAT repeat containing 6	gene	DOID:0050777	Joubert syndrome		ISO	RGD:151800949	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:28492532
1566204	Heatr6	HEAT repeat containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566204	Heatr6	HEAT repeat containing 6	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606785	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 1	PMID:28492532
1566204	Heatr6	HEAT repeat containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566204	Heatr6	HEAT repeat containing 6	gene	DOID:1115	sarcoma		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566204	Heatr6	HEAT repeat containing 6	gene	DOID:1909	melanoma		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566204	Heatr6	HEAT repeat containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566204	Heatr6	HEAT repeat containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566204	Heatr6	HEAT repeat containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1606785	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566204	Heatr6	HEAT repeat containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566204	Heatr6	HEAT repeat containing 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566204	Heatr6	HEAT repeat containing 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1566204	Heatr6	HEAT repeat containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566209	Polr2l	RNA polymerase II, I and III subunit L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566211	Cd274	CD274 molecule	gene	DOID:0040083	Chlamydia pneumonia		ISO	RGD:1553554	D	RGD:41412180|PMID:26378990	20210219	RGD		mRNA:increased expression:lung	
1566211	Cd274	CD274 molecule	gene	DOID:0050523	adult T-cell leukemia/lymphoma	disease_progression	ISO	RGD:1605684	D	RGD:41412177|PMID:27418641	20210219	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:0050784	primary progressive multiple sclerosis	severity	ISO	RGD:1553554	D	RGD:6893669|PMID:21494618	20120917	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:0060058	lymphoma		ISO	RGD:1605684	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:28736328
1566211	Cd274	CD274 molecule	gene	DOID:0061164	infantile onset multisystem autoimmune disease 5		ISO	RGD:1605684	D	RGD:7240710	20250806	OMIM			
1566211	Cd274	CD274 molecule	gene	DOID:0061164	infantile onset multisystem autoimmune disease 5		ISO	RGD:1605684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune disease, multisystem, infantile-onset, 5	
1566211	Cd274	CD274 molecule	gene	DOID:0080158	herpes simplex virus keratitis		ISO	RGD:1553554	D	RGD:41410794|PMID:16253242	20210215	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:0080159	cryptococcal meningitis	treatment	ISO	RGD:1605684	D	RGD:41412178|PMID:29058791	20210219	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:0080797	nasal type extranodal NK/T-cell lymphoma	disease_progression	ISO	RGD:1605684	D	RGD:41412182|PMID:27595782	20210219	RGD		associated with Epstein-Barr Virus Infections	
1566211	Cd274	CD274 molecule	gene	DOID:0081463	recurrent respiratory papillomatosis		ISO	RGD:1605684	D	RGD:40822813|PMID:22322668	20201130	RGD		protein:increased expression: larynx	
1566211	Cd274	CD274 molecule	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1605684	D	RGD:40818238|PMID:32380498	20201113	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1605684	D	RGD:41410803|PMID:32089413	20210215	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:10591	pre-eclampsia	treatment	IEP		D	RGD:40886269|PMID:27277012	20201203	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:11166	Human papillomavirus infectious disease		ISO	RGD:1605684	D	RGD:40822817|PMID:23521696	20201201	RGD		associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell	
1566211	Cd274	CD274 molecule	gene	DOID:11260	rabies		ISO	RGD:1553554	D	RGD:41410795|PMID:18490751	20210215	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:1205	allergic disease		ISO	RGD:1605684	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20488241|PMID:23624239
1566211	Cd274	CD274 molecule	gene	DOID:12148	alveolar echinococcosis	treatment	ISO	RGD:1553554	D	RGD:41410787|PMID:30315719	20210212	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:12155	lymphocytic choriomeningitis		ISO	RGD:1553554	D	RGD:41410802|PMID:23230000	20210215	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1553554	D	RGD:11056952|PMID:25465101	20201112	RGD		protein:increased expression: lung	
1566211	Cd274	CD274 molecule	gene	DOID:1273	respiratory syncytial virus infectious disease	severity	ISO	RGD:1553554	D	RGD:11056952|PMID:25465101	20201112	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1605684	D	RGD:40822808|PMID:29702526	20201130	RGD		protein:increased expression:serum	
1566211	Cd274	CD274 molecule	gene	DOID:14115	toxic shock syndrome	severity	ISO	RGD:1605684	D	RGD:41410786|PMID:26063974	20210212	RGD		protein:increased expression:lymphocyte, mononcyte	
1566211	Cd274	CD274 molecule	gene	DOID:1731	histoplasmosis		ISO	RGD:1553554	D	RGD:40822806|PMID:18268348	20201130	RGD		protein:increased expression:macrophage, dendritic cell, lymphocyte, splenocytes,	
1566211	Cd274	CD274 molecule	gene	DOID:1883	hepatitis C		ISO	RGD:1605684	D	RGD:41410799|PMID:20513078	20210215	RGD		protein:increased expression:dendritic cell	
1566211	Cd274	CD274 molecule	gene	DOID:1909	melanoma		ISO	RGD:1605684	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:20143437
1566211	Cd274	CD274 molecule	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1553554	D	RGD:41412171|PMID:19781375	20210219	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:219	colon cancer	treatment	ISO	RGD:1553554	D	RGD:41410791|PMID:28424330	20210215	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:2394	ovarian cancer		ISO	RGD:1553554	D	RGD:41410797|PMID:23340297	20210215	RGD		associated with ovarian cancer	
1566211	Cd274	CD274 molecule	gene	DOID:2394	ovarian cancer	treatment	ISO	RGD:1553554	D	RGD:41410791|PMID:28424330	20210215	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:2841	asthma	treatment	ISO	RGD:1553554	D	RGD:41412180|PMID:26378990	20210219	RGD		associated with Chlamydia pneumonia	
1566211	Cd274	CD274 molecule	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1605684	D	RGD:40818418|PMID:23661793	20201120	RGD		protein:increased expression:Tcell, B cell, monocyte	
1566211	Cd274	CD274 molecule	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1605684	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:16611412
1566211	Cd274	CD274 molecule	gene	DOID:303	substance-related disorder		ISO	RGD:1605684	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1566211	Cd274	CD274 molecule	gene	DOID:3951	acute myocarditis		ISO	RGD:1553554	D	RGD:40822819|PMID:17434153	20201201	RGD		associated with Coxsackievirus Infections;protein:increased expression:ventricle:	
1566211	Cd274	CD274 molecule	gene	DOID:399	tuberculosis		ISO	RGD:1605684	D	RGD:41412173|PMID:21509782	20210219	RGD		mRNA, protein:increased expression:blood, neutrophil	
1566211	Cd274	CD274 molecule	gene	DOID:4780	anti-basement membrane glomerulonephritis	treatment	ISO	RGD:1553554	D	RGD:7248671|PMID:21965585	20141105	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1605684	D	RGD:41412179|PMID:30161254	20210219	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1605684	D	RGD:41412181|PMID:30236481	20210219	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:646	viral encephalitis		ISO	RGD:1553554	D	RGD:40818239|PMID:31105690	20201113	RGD		protein:increased expression: myeloid cells, microglia, astrocytes	
1566211	Cd274	CD274 molecule	gene	DOID:646	viral encephalitis		ISO	RGD:1553554	D	RGD:6893671|PMID:20876353	20120917	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605684	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22396772
1566211	Cd274	CD274 molecule	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1605684	D	RGD:40818240|PMID:30267213	20201113	RGD		associated with  hepatitis B	
1566211	Cd274	CD274 molecule	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1605684	D	RGD:41410800|PMID:21912640	20210215	RGD		associated with hepatitis B	
1566211	Cd274	CD274 molecule	gene	DOID:824	periodontitis		IEP		D	RGD:40886271|PMID:32346701	20201203	RGD		protein:increased expression:periodontium	
1566211	Cd274	CD274 molecule	gene	DOID:8469	influenza		ISO	RGD:1605684	D	RGD:41410793|PMID:24187568	20210215	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:8566	herpes simplex		ISO	RGD:1553554	D	RGD:41412169|PMID:29669784	20210219	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:8991	cervix uteri carcinoma in situ	severity	ISO	RGD:1605684	D	RGD:40822817|PMID:23521696	20201201	RGD		associated with Papillomavirus Infections; protein:increased expression:dendritic cell	
1566211	Cd274	CD274 molecule	gene	DOID:9000039	Spinal Cord Injuries		IEP		D	RGD:40886268|PMID:29665726	20201203	RGD		mRNA:increased expression:microglial cell	
1566211	Cd274	CD274 molecule	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605684	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:16530813
1566211	Cd274	CD274 molecule	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1605684	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:16530813
1566211	Cd274	CD274 molecule	gene	DOID:9000220	Coxsackievirus Infections	treatment	ISO	RGD:1553554	D	RGD:40818421|PMID:30904424	20201120	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:9000277	Radiation-Induced Neoplasms		ISO	RGD:1605684	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:28736328
1566211	Cd274	CD274 molecule	gene	DOID:9000918	Disease Progression		ISO	RGD:1605684	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:27692344
1566211	Cd274	CD274 molecule	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1605684	D	RGD:41410797|PMID:23340297	20210215	RGD		associated with ovarian cancer	
1566211	Cd274	CD274 molecule	gene	DOID:9001228	Fungemia	treatment	ISO	RGD:1553554	D	RGD:40818234|PMID:23663657	20201112	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1605684	D	RGD:11554173	20230704	CTD		CTD Direct Evidence: marker/mechanism	PMID:17360651
1566211	Cd274	CD274 molecule	gene	DOID:9002801	Recurrence		ISO	RGD:1605684	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22396772
1566211	Cd274	CD274 molecule	gene	DOID:9003223	Corneal Graft Rejection	treatment	IMP		D	RGD:41412184|PMID:22300371	20210219	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1605684	D	RGD:41410796|PMID:18086898	20210215	RGD		protein:increased expression:peripheral blood mononuclear cell	
1566211	Cd274	CD274 molecule	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1553554	D	RGD:8657367|PMID:14662900	20140609	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:9004484	Sepsis		ISO	RGD:1605684	D	RGD:40818235|PMID:30595665	20201112	RGD		protein:increased expression:monocyte	
1566211	Cd274	CD274 molecule	gene	DOID:9004484	Sepsis		ISO	RGD:1605684	D	RGD:40818424|PMID:29661225	20201123	RGD		protein:increased expression:B cell,CD4T cell	
1566211	Cd274	CD274 molecule	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1605684	D	RGD:40822808|PMID:29702526	20201130	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1605684	D	RGD:41412183|PMID:27156867	20210219	RGD		protein:increased expression:monocyte	
1566211	Cd274	CD274 molecule	gene	DOID:9005161	Thymus Neoplasms		ISO	RGD:1605684	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:28736328
1566211	Cd274	CD274 molecule	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1605684	D	RGD:11554173	20211207	CTD		CTD Direct Evidence: marker/mechanism	PMID:27692344|PMID:34166680
1566211	Cd274	CD274 molecule	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	IDA		D	RGD:40886270|PMID:29043842	20201203	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:9006644	Retroviridae Infections	treatment	ISO	RGD:1553554	D	RGD:41410793|PMID:24187568	20210215	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:9006925	Hepatic Echinococcosis		ISO	RGD:1553554	D	RGD:41412175|PMID:25907244	20210219	RGD		mRNA, protein:increased expression:liver	
1566211	Cd274	CD274 molecule	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1553554	D	RGD:40818270|PMID:22797302	20201117	RGD		mRNA:increased expression:lung	
1566211	Cd274	CD274 molecule	gene	DOID:9006928	Viral Bronchiolitis	treatment	ISO	RGD:1553554	D	RGD:40818270|PMID:22797302	20201117	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566211	Cd274	CD274 molecule	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1605684	D	RGD:11344683|PMID:26266813	20210219	RGD		protein:increased expression:regulatory T cell	
1566211	Cd274	CD274 molecule	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1553554	D	RGD:41412166|PMID:20460044	20210219	RGD			
1566211	Cd274	CD274 molecule	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1553554	D	RGD:41410801|PMID:16358363	20210215	RGD			
1566214	Fam217a	family with sequence similarity 217, member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566214	Fam217a	family with sequence similarity 217, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:0060058	lymphoma		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:1324	lung cancer		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:1909	melanoma		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347391	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:9004657	Weight Gain		ISO	RGD:1347391	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566215	Copg2	coat protein complex I subunit gamma 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566220	Heatr4	HEAT repeat containing 4	gene	DOID:0080600	COVID-19		ISO	RGD:1602622	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1566220	Heatr4	HEAT repeat containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566222	Ccdc106	coiled-coil domain containing 106	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566222	Ccdc106	coiled-coil domain containing 106	gene	DOID:1115	sarcoma		ISO	RGD:1607037	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566222	Ccdc106	coiled-coil domain containing 106	gene	DOID:1324	lung cancer		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566222	Ccdc106	coiled-coil domain containing 106	gene	DOID:1909	melanoma		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566222	Ccdc106	coiled-coil domain containing 106	gene	DOID:3070	high grade glioma		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1566222	Ccdc106	coiled-coil domain containing 106	gene	DOID:3275	thymoma		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566222	Ccdc106	coiled-coil domain containing 106	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566222	Ccdc106	coiled-coil domain containing 106	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566222	Ccdc106	coiled-coil domain containing 106	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566224	Tmem70	transmembrane protein 70	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
1566224	Tmem70	transmembrane protein 70	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1603032	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18953340
1566224	Tmem70	transmembrane protein 70	gene	DOID:0050737	autosomal recessive disease		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive disease	PMID:25741868|PMID:28492532
1566224	Tmem70	transmembrane protein 70	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:1603032	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27914986
1566224	Tmem70	transmembrane protein 70	gene	DOID:0060331	mitochondrial complex V (ATP synthase) deficiency nuclear type 2		ISO	RGD:1603032	D	RGD:7240710	20141015	OMIM			
1566224	Tmem70	transmembrane protein 70	gene	DOID:0060331	mitochondrial complex V (ATP synthase) deficiency nuclear type 2		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	PMID:16199547|PMID:17576681|PMID:1895334|PMID:18953340|PMID:20335238|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21147908|PMID:21815885|PMID:21945727|PMID:22433607|PMID:22986587|PMID:24033266|PMID:24485043|PMID:24740313|PMID:25326274|PMID:25741868|PMID:25825456|PMID:26467025|PMID:26550569|PMID:28492532|PMID:30724636|PMID:30899493|PMID:30950220|PMID:38703036|PMID:9536098
1566224	Tmem70	transmembrane protein 70	gene	DOID:0111143	mitochondrial complex V (ATP synthase) deficiency		ISO	RGD:1603032	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type	PMID:18953340|PMID:20335238|PMID:20920610|PMID:21147908|PMID:24033266|PMID:24485043|PMID:25326274|PMID:25741868|PMID:28492532
1566224	Tmem70	transmembrane protein 70	gene	DOID:10534	stomach cancer		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566224	Tmem70	transmembrane protein 70	gene	DOID:1059	intellectual disability		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual disability	PMID:18953340|PMID:20335238|PMID:20920610|PMID:21147908|PMID:24033266|PMID:24485043|PMID:25326274|PMID:25741868|PMID:28492532
1566224	Tmem70	transmembrane protein 70	gene	DOID:10603	glucose intolerance		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glucose intolerance	PMID:25741868|PMID:28492532
1566224	Tmem70	transmembrane protein 70	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
1566224	Tmem70	transmembrane protein 70	gene	DOID:12215	oligohydramnios		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
1566224	Tmem70	transmembrane protein 70	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exocrine pancreatic insufficiency	PMID:25741868|PMID:28492532
1566224	Tmem70	transmembrane protein 70	gene	DOID:3650	lactic acidosis		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
1566224	Tmem70	transmembrane protein 70	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
1566224	Tmem70	transmembrane protein 70	gene	DOID:4362	cervical cancer		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566224	Tmem70	transmembrane protein 70	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566224	Tmem70	transmembrane protein 70	gene	DOID:630	genetic disease		ISO	RGD:1603032	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18953340|PMID:21147908|PMID:24740313|PMID:25741868|PMID:28492532
1566224	Tmem70	transmembrane protein 70	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603032	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:27914986
1566224	Tmem70	transmembrane protein 70	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566224	Tmem70	transmembrane protein 70	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of the mitochondrion	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
1566224	Tmem70	transmembrane protein 70	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:1603032	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18953340
1566224	Tmem70	transmembrane protein 70	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
1566224	Tmem70	transmembrane protein 70	gene	DOID:9002395	Hypothermia		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypothermia	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
1566224	Tmem70	transmembrane protein 70	gene	DOID:9003507	Premature Birth		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
1566224	Tmem70	transmembrane protein 70	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
1566224	Tmem70	transmembrane protein 70	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603032	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
1566224	Tmem70	transmembrane protein 70	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
1566224	Tmem70	transmembrane protein 70	gene	DOID:9006635	Hyponatremia		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
1566224	Tmem70	transmembrane protein 70	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603032	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
1566224	Tmem70	transmembrane protein 70	gene	DOID:9008811	Tachypnea		ISO	RGD:1603032	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:17576681|PMID:1895334|PMID:18953340|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098
1566227	U2surp-ps1	U2 snRNP-associated SURP domain containing, pseudogene 1	gene	DOID:9001573	Experimental Liver Cirrhosis		EXP		D	RGD:11554173	20180130	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1566232	Mrm1	mitochondrial rRNA methyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566232	Mrm1	mitochondrial rRNA methyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566232	Mrm1	mitochondrial rRNA methyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566232	Mrm1	mitochondrial rRNA methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566232	Mrm1	mitochondrial rRNA methyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566234	Grb10	growth factor receptor bound protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566234	Grb10	growth factor receptor bound protein 10	gene	DOID:0080600	COVID-19		ISO	RGD:1352618	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1566234	Grb10	growth factor receptor bound protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566234	Grb10	growth factor receptor bound protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566234	Grb10	growth factor receptor bound protein 10	gene	DOID:1324	lung cancer		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566234	Grb10	growth factor receptor bound protein 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1566234	Grb10	growth factor receptor bound protein 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566234	Grb10	growth factor receptor bound protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1352618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566234	Grb10	growth factor receptor bound protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566234	Grb10	growth factor receptor bound protein 10	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1566234	Grb10	growth factor receptor bound protein 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566234	Grb10	growth factor receptor bound protein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566234	Grb10	growth factor receptor bound protein 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566234	Grb10	growth factor receptor bound protein 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1566236	H1f8	H1.8 linker histone	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566239	Rex1bd	required for excision 1-B domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566239	Rex1bd	required for excision 1-B domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1605988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566239	Rex1bd	required for excision 1-B domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1605988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566239	Rex1bd	required for excision 1-B domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1605988	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566239	Rex1bd	required for excision 1-B domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566242	Cisd2	CDGSH iron sulfur domain 2	gene	DOID:0110630	Wolfram syndrome 2		ISO	RGD:1558185	D	RGD:10045601|PMID:19451219	20150612	RGD			
1566242	Cisd2	CDGSH iron sulfur domain 2	gene	DOID:0110630	Wolfram syndrome 2		ISO	RGD:1603794	D	RGD:10045603|PMID:17846994	20150612	RGD		DNA:missense mutation: :109G>C (p.E37Q) (human)	
1566242	Cisd2	CDGSH iron sulfur domain 2	gene	DOID:0110630	Wolfram syndrome 2		ISO	RGD:1603794	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24705017
1566242	Cisd2	CDGSH iron sulfur domain 2	gene	DOID:0110630	Wolfram syndrome 2		ISO	RGD:1603794	D	RGD:7240710	20131030	OMIM			
1566242	Cisd2	CDGSH iron sulfur domain 2	gene	DOID:0110630	Wolfram syndrome 2		ISO	RGD:1603794	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: WOLFRAM SYNDROME 2 | ClinVar Annotator: match by term: Wolfram syndrome 2	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1566242	Cisd2	CDGSH iron sulfur domain 2	gene	DOID:630	genetic disease		ISO	RGD:1603794	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
1566242	Cisd2	CDGSH iron sulfur domain 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1603794	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
1566255	Spmip2	sperm microtubule inner protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1602179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566255	Spmip2	sperm microtubule inner protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602179	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566255	Spmip2	sperm microtubule inner protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:30879638
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:0050847	sleep apnea		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1345228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability	PMID:25741868
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1345228	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1345228	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:12849	autistic disorder		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:30879638
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:1826	epilepsy		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345228	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28518168|PMID:32461654
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:30879638
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345228	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:9004866	Ataxia		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:30879638
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:30879638
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1345228	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868|PMID:30879638
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:30879638
1566256	Brsk2	BR serine/threonine kinase 2	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1345228	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:30879638
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1348930	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract	PMID:25741868|PMID:26026792|PMID:30143558
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1348930	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISS	RGD:1557733	D	RGD:13592920	20230323	MouseDO			
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:1909	melanoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1348930	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348930	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9003676	Brain Hypoxia-Ischemia	exacerbates	IMP		D	RGD:242905191|PMID:31356825	20230327	RGD			
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:1348930	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:1348930	D	RGD:7240710	20150909	OMIM			
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:1348930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SRGAP1-related condition | ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2	PMID:25741868|PMID:28492532
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566260	Srgap1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566266	Tctn1	tectonic family member 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17576681|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26489806|PMID:27894351|PMID:28492532|PMID:31302911|PMID:9536098
1566266	Tctn1	tectonic family member 1	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16199547|PMID:17576681|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:27894351|PMID:28492532|PMID:9536098
1566266	Tctn1	tectonic family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1566266	Tctn1	tectonic family member 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica	PMID:16199547|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:27894351|PMID:28492532
1566266	Tctn1	tectonic family member 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606246	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21725307
1566266	Tctn1	tectonic family member 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:16199547|PMID:17576681|PMID:21725307|PMID:22693042|PMID:25741868|PMID:27894351|PMID:28492532|PMID:9536098
1566266	Tctn1	tectonic family member 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26489806|PMID:27894351|PMID:28492532|PMID:9536098
1566266	Tctn1	tectonic family member 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26477546|PMID:26489806|PMID:27894351|PMID:28492532|PMID:31302911|PMID:9536098
1566266	Tctn1	tectonic family member 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:27894351|PMID:28492532
1566266	Tctn1	tectonic family member 1	gene	DOID:0110982	Joubert syndrome 13		ISO	RGD:1606246	D	RGD:7240710	20190315	OMIM			
1566266	Tctn1	tectonic family member 1	gene	DOID:0110982	Joubert syndrome 13		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 13 | ClinVar Annotator: match by term: Joubert syndrome 13 | ClinVar Annotator: match by term: TCTN1-related condition	PMID:16199547|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26123494|PMID:26477546|PMID:27894351|PMID:28492532|PMID:31302911
1566266	Tctn1	tectonic family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:16199547|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:27894351|PMID:28492532
1566266	Tctn1	tectonic family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1606246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1566266	Tctn1	tectonic family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
1566266	Tctn1	tectonic family member 1	gene	DOID:1909	melanoma		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566266	Tctn1	tectonic family member 1	gene	DOID:3275	thymoma		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566266	Tctn1	tectonic family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1566266	Tctn1	tectonic family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606246	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566266	Tctn1	tectonic family member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1566266	Tctn1	tectonic family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1566266	Tctn1	tectonic family member 1	gene	DOID:630	genetic disease		ISO	RGD:1606246	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1566266	Tctn1	tectonic family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566266	Tctn1	tectonic family member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1606246	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17984051
1566266	Tctn1	tectonic family member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26092869
1566266	Tctn1	tectonic family member 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1566266	Tctn1	tectonic family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566269	Neto1	neuropilin and tolloid like 1	gene	DOID:1909	melanoma		ISO	RGD:1348864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566269	Neto1	neuropilin and tolloid like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566269	Neto1	neuropilin and tolloid like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566269	Neto1	neuropilin and tolloid like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566269	Neto1	neuropilin and tolloid like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566279	Tmem74	transmembrane protein 74	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566282	Rnf128	ring finger protein 128	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566282	Rnf128	ring finger protein 128	gene	DOID:10534	stomach cancer		ISO	RGD:1603197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566282	Rnf128	ring finger protein 128	gene	DOID:1227	neutropenia		ISO	RGD:1603197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	PMID:25741868
1566282	Rnf128	ring finger protein 128	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566282	Rnf128	ring finger protein 128	gene	DOID:3275	thymoma		ISO	RGD:1603197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566282	Rnf128	ring finger protein 128	gene	DOID:9005315	Laterality Defects, Autosomal Dominant		ISO	RGD:1603197	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Laterality defects, autosomal dominant	
1566282	Rnf128	ring finger protein 128	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566283	Zfp133	zinc finger protein 133	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566283	Zfp133	zinc finger protein 133	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566283	Zfp133	zinc finger protein 133	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566287	Praf2	PRA1 domain family, member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566287	Praf2	PRA1 domain family, member 2	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1350856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	
1566287	Praf2	PRA1 domain family, member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350856	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1566287	Praf2	PRA1 domain family, member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:0112127	HRPT-related hyperuricemia		ISO	RGD:1350465	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23348497
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:10534	stomach cancer		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:1115	sarcoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:13189	gout		ISO	RGD:1350465	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983786
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:1324	lung cancer		ISO	RGD:1350465	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:1909	melanoma		ISO	RGD:1350465	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:1920	hyperuricemia		ISO	RGD:1350465	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23348497
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:3275	thymoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:4362	cervical cancer		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:6039	uveal melanoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566295	Aldh16a1	aldehyde dehydrogenase 16 family, member A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566296	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566296	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566296	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566296	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1605622	D	RGD:598115434|PMID:32855533	20251007	RGD		DNA:deletions,missense mutations:CDS:	
1566296	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:2841	asthma	treatment	ISO	RGD:1605622	D	RGD:628374358|PMID:32119686	20251007	RGD		DNA:SNP: :rs34631960	
1566296	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:303	substance-related disorder		ISO	RGD:1605622	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1566296	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566296	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1605622	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566296	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566296	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566296	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:9008628	Familial Thoracic Aortic Aneurysm 12		ISO	RGD:1605622	D	RGD:7240710	20220413	OMIM			
1566296	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:9008628	Familial Thoracic Aortic Aneurysm 12		ISO	RGD:1605622	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 12 | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12 | ClinVar Annotator: match by term: THSD4-related condition	PMID:25741868|PMID:32855533
1566296	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566296	Thsd4	thrombospondin type 1 domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566298	Asb11	ankyrin repeat and SOCS box containing 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566298	Asb11	ankyrin repeat and SOCS box containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1344351	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566298	Asb11	ankyrin repeat and SOCS box containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566298	Asb11	ankyrin repeat and SOCS box containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566306	Cdca8	cell division cycle associated 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566306	Cdca8	cell division cycle associated 8	gene	DOID:0080600	COVID-19		ISO	RGD:1346860	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1566306	Cdca8	cell division cycle associated 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566306	Cdca8	cell division cycle associated 8	gene	DOID:1115	sarcoma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566306	Cdca8	cell division cycle associated 8	gene	DOID:1909	melanoma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566306	Cdca8	cell division cycle associated 8	gene	DOID:3275	thymoma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566306	Cdca8	cell division cycle associated 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1566306	Cdca8	cell division cycle associated 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566306	Cdca8	cell division cycle associated 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346860	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1566306	Cdca8	cell division cycle associated 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566306	Cdca8	cell division cycle associated 8	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1346860	D	RGD:153344586|PMID:35693827	20220829	RGD		mRNA:increased expression:liver (human)	
1566306	Cdca8	cell division cycle associated 8	gene	DOID:9003566	Mesothelioma		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1566306	Cdca8	cell division cycle associated 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566306	Cdca8	cell division cycle associated 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566307	Lilrb3	leukocyte immunoglobulin like receptor B3	gene	DOID:0080600	COVID-19		ISO	RGD:1351276	D	RGD:9068941	20210115	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1566307	Lilrb3	leukocyte immunoglobulin like receptor B3	gene	DOID:10534	stomach cancer		ISO	RGD:1351276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566307	Lilrb3	leukocyte immunoglobulin like receptor B3	gene	DOID:1115	sarcoma		ISO	RGD:1351276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566307	Lilrb3	leukocyte immunoglobulin like receptor B3	gene	DOID:1324	lung cancer		ISO	RGD:1351276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566307	Lilrb3	leukocyte immunoglobulin like receptor B3	gene	DOID:1909	melanoma		ISO	RGD:1351276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566307	Lilrb3	leukocyte immunoglobulin like receptor B3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566307	Lilrb3	leukocyte immunoglobulin like receptor B3	gene	DOID:5041	esophageal cancer		ISO	RGD:1351276	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566307	Lilrb3	leukocyte immunoglobulin like receptor B3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566307	Lilrb3	leukocyte immunoglobulin like receptor B3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351276	D	RGD:11554173	20210209	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1566307	Lilrb3	leukocyte immunoglobulin like receptor B3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566307	Lilrb3	leukocyte immunoglobulin like receptor B3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566310	Golt1a	golgi transport 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566310	Golt1a	golgi transport 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566310	Golt1a	golgi transport 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566310	Golt1a	golgi transport 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566312	Dnaaf6	dynein axonemal assembly factor 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566312	Dnaaf6	dynein axonemal assembly factor 6	gene	DOID:0111850	primary ciliary dyskinesia 36		ISO	RGD:1353450	D	RGD:7240710	20190315	OMIM			
1566312	Dnaaf6	dynein axonemal assembly factor 6	gene	DOID:0111850	primary ciliary dyskinesia 36		ISO	RGD:1353450	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 36, X-linked | ClinVar Annotator: match by term: DNAAF6-related condition	PMID:25741868|PMID:28492532|PMID:32170493
1566312	Dnaaf6	dynein axonemal assembly factor 6	gene	DOID:630	genetic disease		ISO	RGD:1353450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1566312	Dnaaf6	dynein axonemal assembly factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566312	Dnaaf6	dynein axonemal assembly factor 6	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1353450	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:30067075
1566313	Mug6	murinoglobulin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566313	Mug6	murinoglobulin 6	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:1347044	D	RGD:11554173	20220125	CTD		CTD Direct Evidence: marker/mechanism	
1566313	Mug6	murinoglobulin 6	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:1347044	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anterior segment dysgenesis	PMID:32499604
1566313	Mug6	murinoglobulin 6	gene	DOID:0080613	anterior segment dysgenesis 8		ISO	RGD:1347044	D	RGD:7240710	20220119	OMIM			
1566313	Mug6	murinoglobulin 6	gene	DOID:0080613	anterior segment dysgenesis 8		ISO	RGD:1347044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 8 | ClinVar Annotator: match by term: Anterior segment dysgenesis 8 | ClinVar Annotator: match by term: CPAMD8-related condition	PMID:16199547|PMID:25741868|PMID:27839872|PMID:28492532|PMID:29556725
1566313	Mug6	murinoglobulin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1347044	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566313	Mug6	murinoglobulin 6	gene	DOID:1115	sarcoma		ISO	RGD:1347044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566313	Mug6	murinoglobulin 6	gene	DOID:1324	lung cancer		ISO	RGD:1347044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566313	Mug6	murinoglobulin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566313	Mug6	murinoglobulin 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1566313	Mug6	murinoglobulin 6	gene	DOID:630	genetic disease		ISO	RGD:1347044	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1566313	Mug6	murinoglobulin 6	gene	DOID:9003816	Macrocephaly		ISO	RGD:1347044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532
1566313	Mug6	murinoglobulin 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566313	Mug6	murinoglobulin 6	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1347044	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Abnormal anterior eye segment morphology	PMID:25741868
1566313	Mug6	murinoglobulin 6	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1347044	D	RGD:11554173	20220125	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
1566313	Mug6	murinoglobulin 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566314	Ccdc191	coiled-coil domain containing 191	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566314	Ccdc191	coiled-coil domain containing 191	gene	DOID:10534	stomach cancer		ISO	RGD:1350923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566314	Ccdc191	coiled-coil domain containing 191	gene	DOID:1115	sarcoma		ISO	RGD:1350923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566314	Ccdc191	coiled-coil domain containing 191	gene	DOID:1909	melanoma		ISO	RGD:1350923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566314	Ccdc191	coiled-coil domain containing 191	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1566314	Ccdc191	coiled-coil domain containing 191	gene	DOID:4362	cervical cancer		ISO	RGD:1350923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566314	Ccdc191	coiled-coil domain containing 191	gene	DOID:5041	esophageal cancer		ISO	RGD:1350923	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566314	Ccdc191	coiled-coil domain containing 191	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566314	Ccdc191	coiled-coil domain containing 191	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566314	Ccdc191	coiled-coil domain containing 191	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1566314	Ccdc191	coiled-coil domain containing 191	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566314	Ccdc191	coiled-coil domain containing 191	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566317	Tesc	tescalcin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566317	Tesc	tescalcin	gene	DOID:3275	thymoma		ISO	RGD:1606266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566317	Tesc	tescalcin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566317	Tesc	tescalcin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566318	Alkbh6	Alkbh6 nucleotide demethylase	gene	DOID:1324	lung cancer		ISO	RGD:1605913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566318	Alkbh6	Alkbh6 nucleotide demethylase	gene	DOID:3070	high grade glioma		ISO	RGD:1605913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1566318	Alkbh6	Alkbh6 nucleotide demethylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566318	Alkbh6	Alkbh6 nucleotide demethylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566319	Sesn2	sestrin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1346813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566319	Sesn2	sestrin 2	gene	DOID:3275	thymoma		ISO	RGD:1346813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566319	Sesn2	sestrin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566319	Sesn2	sestrin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566319	Sesn2	sestrin 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1346813	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: therapeutic	PMID:28209544
1566319	Sesn2	sestrin 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1346813	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: therapeutic	PMID:28209544
1566319	Sesn2	sestrin 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1346813	D	RGD:11554173	20191008	CTD		CTD Direct Evidence: marker/mechanism	PMID:31054940
1566319	Sesn2	sestrin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566320	Smim26	small integral membrane protein 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:5509666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566320	Smim26	small integral membrane protein 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:5509666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566321	Fignl2	fidgetin-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1603328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566321	Fignl2	fidgetin-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:0060911	karyomegalic interstitial nephritis		ISO	RGD:1604829	D	RGD:7240710	20140911	OMIM			
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:0060911	karyomegalic interstitial nephritis		ISO	RGD:1604829	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: FAN1-related condition | ClinVar Annotator: match by term: INTERSTITIAL NEPHRITIS, KARYOMEGALIC | ClinVar Annotator: match by term: Karyomegalic interstitial nephritis	PMID:16199547|PMID:22772369|PMID:25741868|PMID:26052075|PMID:26546047|PMID:28452373|PMID:28492532|PMID:37914484
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:0060911	karyomegalic interstitial nephritis		ISS	RGD:1621218	D	RGD:13592920	20230718	MouseDO		OMIM:614817	
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:1074	kidney failure		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney failure	PMID:25741868
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:25741868|PMID:31263571
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604829	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:630	genetic disease		ISO	RGD:1604829	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36413997|PMID:36938085
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:9000363	Hematuria		ISO	RGD:1604829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: hematuria	PMID:25741868|PMID:28492532
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:9004652	Megalocytic Interstitial Nephritis		ISO	RGD:1604829	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22772369
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1566323	Fan1	FANCD2 and FANCI associated nuclease 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1604829	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532
1566329	Zfp652	zinc finger protein 652	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566329	Zfp652	zinc finger protein 652	gene	DOID:1909	melanoma		ISO	RGD:1350708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566329	Zfp652	zinc finger protein 652	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566329	Zfp652	zinc finger protein 652	gene	DOID:4362	cervical cancer		ISO	RGD:1350708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566329	Zfp652	zinc finger protein 652	gene	DOID:5041	esophageal cancer		ISO	RGD:1350708	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566329	Zfp652	zinc finger protein 652	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1350708	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
1566329	Zfp652	zinc finger protein 652	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566329	Zfp652	zinc finger protein 652	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:1059	intellectual disability		ISO	RGD:1352009	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:1115	sarcoma	treatment	ISO	RGD:1352009	D	RGD:151660332|PMID:31089155	20220303	RGD			
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:1324	lung cancer		ISO	RGD:1352009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:1826	epilepsy		ISO	RGD:1352009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:1969	cerebral palsy		ISO	RGD:1352009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:3649	pyruvate decarboxylase deficiency		ISO	RGD:1352009	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency	PMID:25741868|PMID:28492532
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:5041	esophageal cancer		ISO	RGD:1352009	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:630	genetic disease		ISO	RGD:1352009	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16904023|PMID:21914562|PMID:25741868|PMID:28492532
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1352009	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:9000982	Pyruvate Dehydrogenase E1 Alpha Deficiency		ISO	RGD:1352009	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency	PMID:25741868|PMID:28492532
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:9003678	Pyruvate Dehydrogenase E3-Binding Protein Deficiency		ISO	RGD:1352009	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:9003678	Pyruvate Dehydrogenase E3-Binding Protein Deficiency		ISO	RGD:1352009	D	RGD:7240710	20190315	OMIM			
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:9003678	Pyruvate Dehydrogenase E3-Binding Protein Deficiency		ISO	RGD:1352009	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF THE PYRUVATE DEHYDROGENASE COMPLEX | ClinVar Annotator: match by term: PDHX-related condition | ClinVar Annotator: match by term: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY | ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency	PMID:16904023|PMID:21914562|PMID:21937992|PMID:25741868|PMID:28492532|PMID:31690835
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	PMID:28492532
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566332	Pdhx	pyruvate dehydrogenase complex, component X	gene	DOID:936	brain disease		ISO	RGD:1352009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532
1566336	Cep72	centrosomal protein 72	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566336	Cep72	centrosomal protein 72	gene	DOID:10534	stomach cancer		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566336	Cep72	centrosomal protein 72	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566336	Cep72	centrosomal protein 72	gene	DOID:1324	lung cancer		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566336	Cep72	centrosomal protein 72	gene	DOID:3275	thymoma		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566336	Cep72	centrosomal protein 72	gene	DOID:4362	cervical cancer		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566336	Cep72	centrosomal protein 72	gene	DOID:5041	esophageal cancer		ISO	RGD:1603993	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566336	Cep72	centrosomal protein 72	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566336	Cep72	centrosomal protein 72	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566336	Cep72	centrosomal protein 72	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566336	Cep72	centrosomal protein 72	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566336	Cep72	centrosomal protein 72	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566339	Mmgt1	membrane magnesium transporter 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566339	Mmgt1	membrane magnesium transporter 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566339	Mmgt1	membrane magnesium transporter 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566339	Mmgt1	membrane magnesium transporter 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343591	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1566339	Mmgt1	membrane magnesium transporter 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566339	Mmgt1	membrane magnesium transporter 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566341	Ccdc71	coiled-coil domain containing 71	gene	DOID:5041	esophageal cancer		ISO	RGD:1601742	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1351002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:1115	sarcoma		ISO	RGD:1351002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:1909	melanoma		ISO	RGD:1351002	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:15899824
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:1909	melanoma		ISO	RGD:1351002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1351002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1351002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1351002	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1351002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1351002	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
1566342	Abcb5	ATP binding cassette subfamily B member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566346	Tes	testin LIM domain protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566346	Tes	testin LIM domain protein	gene	DOID:0060180	colitis		ISO	RGD:1603311	D	RGD:11554173	20241203	CTD		CTD Direct Evidence: therapeutic	PMID:39237074
1566346	Tes	testin LIM domain protein	gene	DOID:0080144	childhood acute lymphocytic leukemia		ISO	RGD:1603311	D	RGD:597621675|PMID:20573277	20250206	RGD		DNA:hypermethylation:promoter	
1566346	Tes	testin LIM domain protein	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1603311	D	RGD:597621671|PMID:20626849	20250206	RGD			
1566346	Tes	testin LIM domain protein	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1603311	D	RGD:597621672|PMID:30728082	20250206	RGD			
1566346	Tes	testin LIM domain protein	gene	DOID:1612	breast cancer		ISO	RGD:1603311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
1566346	Tes	testin LIM domain protein	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1603311	D	RGD:597621668|PMID:22957844	20250206	RGD			
1566346	Tes	testin LIM domain protein	gene	DOID:1612	breast cancer	severity	ISO	RGD:1603311	D	RGD:597621682|PMID:23715752	20250207	RGD			
1566346	Tes	testin LIM domain protein	gene	DOID:2871	endometrial carcinoma	exacerbates	ISO	RGD:1603311	D	RGD:597621666|PMID:24929083	20250206	RGD			
1566346	Tes	testin LIM domain protein	gene	DOID:2871	endometrial carcinoma	severity	ISO	RGD:1603311	D	RGD:597621666|PMID:24929083	20250206	RGD			
1566346	Tes	testin LIM domain protein	gene	DOID:3068	glioblastoma		ISO	RGD:1603311	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16909125
1566346	Tes	testin LIM domain protein	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:1603311	D	RGD:597621669|PMID:27899997	20250206	RGD			
1566346	Tes	testin LIM domain protein	gene	DOID:3275	thymoma		ISO	RGD:1603311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566346	Tes	testin LIM domain protein	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1603311	D	RGD:597621667|PMID:28000866	20250206	RGD			
1566346	Tes	testin LIM domain protein	gene	DOID:4362	cervical cancer		ISO	RGD:1603311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566346	Tes	testin LIM domain protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566346	Tes	testin LIM domain protein	gene	DOID:5165	uterine corpus sarcoma	ameliorates	ISO	RGD:1603311	D	RGD:597621683|PMID:15701871	20250207	RGD			
1566346	Tes	testin LIM domain protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566346	Tes	testin LIM domain protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603311	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1566346	Tes	testin LIM domain protein	gene	DOID:9001981	Weight Loss		ISO	RGD:1603311	D	RGD:11554173	20241203	CTD		CTD Direct Evidence: therapeutic	PMID:39237074
1566346	Tes	testin LIM domain protein	gene	DOID:9005372	Inflammation		ISO	RGD:1603311	D	RGD:11554173	20241203	CTD		CTD Direct Evidence: therapeutic	PMID:39237074
1566346	Tes	testin LIM domain protein	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:1603311	D	RGD:597621668|PMID:22957844	20250206	RGD		associated with breast cancer;	
1566346	Tes	testin LIM domain protein	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:1603311	D	RGD:597621672|PMID:30728082	20250206	RGD		associated with stomach cancer;	
1566346	Tes	testin LIM domain protein	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1603311	D	RGD:597621674|PMID:27323777	20250206	RGD			
1566346	Tes	testin LIM domain protein	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1603311	D	RGD:597621674|PMID:27323777	20250206	RGD			
1566350	Cdh12	cadherin 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566350	Cdh12	cadherin 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566350	Cdh12	cadherin 12	gene	DOID:10534	stomach cancer		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566350	Cdh12	cadherin 12	gene	DOID:1324	lung cancer		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566350	Cdh12	cadherin 12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1566350	Cdh12	cadherin 12	gene	DOID:4362	cervical cancer		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566350	Cdh12	cadherin 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1566350	Cdh12	cadherin 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566350	Cdh12	cadherin 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343875	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566350	Cdh12	cadherin 12	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1343875	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
1566351	Fam78a	family with sequence similarity 78, member A	gene	DOID:1324	lung cancer		ISO	RGD:1354321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566351	Fam78a	family with sequence similarity 78, member A	gene	DOID:4362	cervical cancer		ISO	RGD:1354321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566351	Fam78a	family with sequence similarity 78, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566351	Fam78a	family with sequence similarity 78, member A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566357	Tmco4	transmembrane and coiled-coil domains 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566357	Tmco4	transmembrane and coiled-coil domains 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566357	Tmco4	transmembrane and coiled-coil domains 4	gene	DOID:1115	sarcoma		ISO	RGD:1606122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566357	Tmco4	transmembrane and coiled-coil domains 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566357	Tmco4	transmembrane and coiled-coil domains 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566357	Tmco4	transmembrane and coiled-coil domains 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566357	Tmco4	transmembrane and coiled-coil domains 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566357	Tmco4	transmembrane and coiled-coil domains 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566357	Tmco4	transmembrane and coiled-coil domains 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
1566359	C17h5orf24	similar to human chromosome 5 open reading frame 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566359	C17h5orf24	similar to human chromosome 5 open reading frame 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566359	C17h5orf24	similar to human chromosome 5 open reading frame 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566388	Trim71	tripartite motif containing 71	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1606726	D	RGD:8554872	20210309	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
1566388	Trim71	tripartite motif containing 71	gene	DOID:0070681	congenital hydrocephalus		ISO	RGD:1606726	D	RGD:8554872	20260505	ClinVar		ClinVar Annotator: match by term: Congenital hydrocephalus	PMID:25741868|PMID:29983323
1566388	Trim71	tripartite motif containing 71	gene	DOID:0070685	congenital hydrocephalus 4		ISO	RGD:1606726	D	RGD:7240710	20200422	OMIM			
1566388	Trim71	tripartite motif containing 71	gene	DOID:0070685	congenital hydrocephalus 4		ISO	RGD:1606726	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, 4 | ClinVar Annotator: match by term: Hydrocephalus, congenital communicating, 1 | ClinVar Annotator: match by term: TRIM71-related condition	PMID:25741868|PMID:29983323
1566388	Trim71	tripartite motif containing 71	gene	DOID:0080600	COVID-19		ISO	RGD:1606726	D	RGD:9068941	20220523	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1566388	Trim71	tripartite motif containing 71	gene	DOID:10908	hydrocephalus		ISS	RGD:1613794	D	RGD:13592920	20241121	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
1566388	Trim71	tripartite motif containing 71	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566388	Trim71	tripartite motif containing 71	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606726	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566388	Trim71	tripartite motif containing 71	gene	DOID:9003436	CRYPTOZOOSPERMIA		ISO	RGD:1606726	D	RGD:8554872	20210309	ClinVar		ClinVar Annotator: match by term: Cryptozoospermia	PMID:25741868
1566390	Mcts1	MCTS1, re-initiation and release factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566390	Mcts1	MCTS1, re-initiation and release factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566390	Mcts1	MCTS1, re-initiation and release factor	gene	DOID:0061084	immunodeficiency 118		ISO	RGD:1351081	D	RGD:7240710	20240131	OMIM			
1566390	Mcts1	MCTS1, re-initiation and release factor	gene	DOID:0061084	immunodeficiency 118		ISO	RGD:1351081	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 118	
1566390	Mcts1	MCTS1, re-initiation and release factor	gene	DOID:10534	stomach cancer		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566390	Mcts1	MCTS1, re-initiation and release factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566390	Mcts1	MCTS1, re-initiation and release factor	gene	DOID:3070	high grade glioma		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1566390	Mcts1	MCTS1, re-initiation and release factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566390	Mcts1	MCTS1, re-initiation and release factor	gene	DOID:630	genetic disease		ISO	RGD:1351081	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1566390	Mcts1	MCTS1, re-initiation and release factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566390	Mcts1	MCTS1, re-initiation and release factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:10534	stomach cancer		ISO	RGD:1343050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:1324	lung cancer		ISO	RGD:1343050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:1909	melanoma		ISO	RGD:1343050	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:2841	asthma		ISO	RGD:1320020	D	RGD:5128872|PMID:20194813	20110322	RGD			
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:2841	asthma		ISO	RGD:1320020	D	RGD:5128878|PMID:19373511	20110322	RGD		mRNA:increased expression:respiratory tract	
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:2841	asthma	severity	ISO	RGD:1343050	D	RGD:4145380|PMID:17339047	20110322	RGD		mRNA:increased expression:bronchus	
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:1343050	D	RGD:2325243|PMID:17979891	20100527	RGD		mRNA:increased expression:pancreas	
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:4362	cervical cancer		ISO	RGD:1343050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1320020	D	RGD:2325244|PMID:9670863	20100527	RGD			
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:1320020	D	RGD:2325244|PMID:9670863	20100527	RGD			
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1343050	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24646716
1566394	Adam8	ADAM metallopeptidase domain 8	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:1343050	D	RGD:5128874|PMID:19625177	20110322	RGD		protein:increased expression:serum	
1566396	Lyset	lysosomal enzyme trafficking factor	gene	DOID:1059	intellectual disability		ISO	RGD:1349199	D	RGD:8554872	20200609	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1566396	Lyset	lysosomal enzyme trafficking factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566396	Lyset	lysosomal enzyme trafficking factor	gene	DOID:9005886	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE		ISO	RGD:1349199	D	RGD:7240710	20210818	OMIM			
1566396	Lyset	lysosomal enzyme trafficking factor	gene	DOID:9005886	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE		ISO	RGD:1349199	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE | ClinVar Annotator: match by term: Dysostosis multiplex, Ain-Naz type	PMID:25741868
1566398	Ppp1r3f	protein phosphatase 1, regulatory subunit 3F	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566398	Ppp1r3f	protein phosphatase 1, regulatory subunit 3F	gene	DOID:12849	autistic disorder		ISO	RGD:1353330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1566398	Ppp1r3f	protein phosphatase 1, regulatory subunit 3F	gene	DOID:1826	epilepsy		ISO	RGD:1353330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26647099|PMID:28325759|PMID:30192042|PMID:35388186|PMID:37531237
1566398	Ppp1r3f	protein phosphatase 1, regulatory subunit 3F	gene	DOID:3275	thymoma		ISO	RGD:1353330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566398	Ppp1r3f	protein phosphatase 1, regulatory subunit 3F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566398	Ppp1r3f	protein phosphatase 1, regulatory subunit 3F	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1353330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1566398	Ppp1r3f	protein phosphatase 1, regulatory subunit 3F	gene	DOID:9003507	Premature Birth		ISO	RGD:1353330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1566398	Ppp1r3f	protein phosphatase 1, regulatory subunit 3F	gene	DOID:9004866	Ataxia		ISO	RGD:1353330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:26647099|PMID:28325759|PMID:30192042|PMID:35388186|PMID:37531237
1566398	Ppp1r3f	protein phosphatase 1, regulatory subunit 3F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:0050453	lissencephaly		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pachygyria	PMID:22265014|PMID:23436491|PMID:25741868|PMID:28492532|PMID:29226580|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:0060260	ptosis		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:0060290	Ohdo syndrome, SBBYS variant		ISO	RGD:1353532	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:0060290	Ohdo syndrome, SBBYS variant		ISO	RGD:1353532	D	RGD:7240710	20170201	OMIM			
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:0060290	Ohdo syndrome, SBBYS variant		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: KAT6B-related multiple congenital anomalies syndrome | ClinVar Annotator: match by term: Mental retardation unusual facies hypothyroidism | ClinVar Annotator: match by term: Ohdo syndrome, SBBYS variant | ClinVar Annotator: match by term: SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson syndrome | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome | ClinVar Annotator: match by term: blepharophimosis - intellectual disability syndrome, SBBYS type	PMID:22077973|PMID:22715153|PMID:23236640|PMID:23436491|PMID:25326637|PMID:25424711|PMID:25473036|PMID:25741868|PMID:25741872|PMID:25937001|PMID:27452416|PMID:27848944|PMID:28191890|PMID:28492532|PMID:28758091|PMID:28857140|PMID:30569622|PMID:32424177|PMID:34906515|PMID:36549658
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:0060290	Ohdo syndrome, SBBYS variant		ISO	RGD:1353532	D	RGD:9588484|PMID:22077973	20141029	RGD		DNA:mutations:cds:multiple (human)	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1353532	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1353532	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:0090125	brain small vessel disease 1		ISO	RGD:1353532	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:0111547	retinal arterial tortuosity		ISO	RGD:1353532	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Retinal arterial tortuosity	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:10348	blepharophimosis		ISO	RGD:1353532	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:10534	stomach cancer		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:1059	intellectual disability		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:10892	hypospadias		ISO	RGD:1353532	D	RGD:8554872	20220308	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:10908	hydrocephalus		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:22265014|PMID:23436491|PMID:25741868|PMID:28492532|PMID:29226580|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:11044	gastroschisis		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroschisis	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:11111	hydronephrosis		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:22265014|PMID:23436491|PMID:25741868|PMID:28492532|PMID:29226580|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:11383	cryptorchidism		ISO	RGD:1353532	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: undescended testes	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:11782	astigmatism		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:22077973|PMID:22715153|PMID:23436491|PMID:25741868|PMID:28492532|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:11836	clubfoot		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:22265014|PMID:23436491|PMID:25741868|PMID:28492532|PMID:29226580|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:127	leiomyoma		ISO	RGD:1353532	D	RGD:9590338|PMID:15313893	20141125	RGD		DNA:translocation:intron:IVS3 (human)	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:12712	nephronophthisis		ISO	RGD:1353532	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:25741868|PMID:28492532|PMID:30143558
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:12849	autistic disorder		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:13620	patent foramen ovale		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type | ClinVar Annotator: match by term: Patent foramen ovale	PMID:22265014|PMID:23436491|PMID:25741868|PMID:28492532|PMID:29226580|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:1459	hypothyroidism		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:22265014|PMID:25741868|PMID:26938784
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:14780	KBG syndrome		ISO	RGD:1353532	D	RGD:8554872	20190409	ClinVar		ClinVar Annotator: match by term: KBG syndrome	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:1612	breast cancer		ISO	RGD:1353532	D	RGD:9590339|PMID:23800003	20141125	RGD		DNA:missense mutations:cds:p.D1516Y, p.R1577C (human)	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:1657	ventricular septal defect		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:1826	epilepsy		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22077973|PMID:22715153|PMID:23436491|PMID:25741868|PMID:28492532|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:1909	melanoma		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:2340	craniosynostosis		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniostenosis	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:255	hemangioma		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:22265014|PMID:23436491|PMID:25741868|PMID:28492532|PMID:29226580|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:3070	high grade glioma		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:3312	bipolar disorder		ISO	RGD:1353532	D	RGD:9588521|PMID:24444492	20141029	RGD		DNA:mutations:multiple (human)	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:3490	Noonan syndrome		ISO	RGD:1617572	D	RGD:9590337|PMID:21804188	20141125	RGD			
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:3490	Noonan syndrome		ISS	RGD:1617572	D	RGD:13592920	20180518	MouseDO			
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:540	strabismus		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:22077973|PMID:22715153|PMID:23436491|PMID:25741868|PMID:28492532|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:543	dystonia		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:630	genetic disease		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22265014|PMID:23436491|PMID:25741868|PMID:28492532|PMID:29226580|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:674	cleft palate		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1353532	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:8488	polyhydramnios		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:22265014|PMID:23436491|PMID:25741868|PMID:28492532|PMID:29226580|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:22265014|PMID:23436491|PMID:25741868|PMID:28492532|PMID:29226580|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9001510	Funnel Chest		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:28492532
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9002417	Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant		ISO	RGD:1353532	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1353532	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cognitive impairment	PMID:25741868|PMID:28492532
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9003133	Hypertelorism		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:22077973|PMID:22715153|PMID:23436491|PMID:25741868|PMID:28492532|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9003591	Telecanthus		ISO	RGD:1353532	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9004327	Colpocephaly		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:22265014|PMID:23436491|PMID:25741868|PMID:28492532|PMID:29226580|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353532	D	RGD:8554872	20210511	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9004866	Ataxia		ISO	RGD:1353532	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:25741868|PMID:28492532
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9004956	Nocturnal Enuresis		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nocturnal enuresis	PMID:22077973|PMID:22715153|PMID:23436491|PMID:25741868|PMID:28492532|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9005077	Joint Instability		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9005253	Hypernatremia		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypernatremia	PMID:22265014|PMID:23436491|PMID:25741868|PMID:28492532|PMID:29226580|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9005520	Genitopatellar Syndrome		ISO	RGD:1353532	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9005520	Genitopatellar Syndrome		ISO	RGD:1353532	D	RGD:7240710	20141015	OMIM			
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9005520	Genitopatellar Syndrome		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION | ClinVar Annotator: match by term: GENITOPATELLAR SYNDROME | ClinVar Annotator: match by term: Genitopatellar syndrome | ClinVar Annotator: match by term: KAT6B-related disorder | ClinVar Annotator: match by term: KAT6B-related spectrum disorders	PMID:16199547|PMID:17576681|PMID:22077973|PMID:22265014|PMID:22715153|PMID:23436491|PMID:24033266|PMID:25424711|PMID:25741868|PMID:26334766|PMID:28492532|PMID:28696035|PMID:29226580|PMID:29758562|PMID:30143558|PMID:30919572|PMID:32424177|PMID:33004838|PMID:33057194|PMID:33726816|PMID:35118825|PMID:9536098
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9005520	Genitopatellar Syndrome		ISO	RGD:1353532	D	RGD:9588485|PMID:22265017	20141029	RGD		DNA:mutations:cds:multiple (human)	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:22265014|PMID:23436491|PMID:25741868|PMID:28492532|PMID:29226580|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9005834	Ependymomas		ISO	RGD:1353532	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9007661	Dwarfism		ISO	RGD:1353532	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9007845	Encopresis		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encopresis	PMID:22077973|PMID:22715153|PMID:23436491|PMID:25741868|PMID:28492532|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental Delay | ClinVar Annotator: match by term: Global developmental delay	PMID:22077973|PMID:22715153|PMID:23436491|PMID:25741868|PMID:28492532|PMID:32424177|PMID:36937954
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1353532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:22265014|PMID:23436491|PMID:25741868|PMID:28492532|PMID:29226580|PMID:32424177
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1353532	D	RGD:8554872	20181106	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868
1566399	Kat6b	lysine acetyltransferase 6B	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1353532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
1566400	Map3k19	mitogen-activated protein kinase kinase kinase 19	gene	DOID:10534	stomach cancer		ISO	RGD:1604798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566400	Map3k19	mitogen-activated protein kinase kinase kinase 19	gene	DOID:1324	lung cancer		ISO	RGD:1604798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1566400	Map3k19	mitogen-activated protein kinase kinase kinase 19	gene	DOID:1909	melanoma		ISO	RGD:1604798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566400	Map3k19	mitogen-activated protein kinase kinase kinase 19	gene	DOID:3275	thymoma		ISO	RGD:1604798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566400	Map3k19	mitogen-activated protein kinase kinase kinase 19	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1566400	Map3k19	mitogen-activated protein kinase kinase kinase 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604798	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566400	Map3k19	mitogen-activated protein kinase kinase kinase 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566401	Meg3	maternally expressed 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566401	Meg3	maternally expressed 3	gene	DOID:1115	sarcoma		ISO	RGD:1351308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566401	Meg3	maternally expressed 3	gene	DOID:12858	Huntington's disease		ISO	RGD:1351308	D	RGD:9068941	20220616	RGD		up-regulated	PMID:22202438|REF_RGD_ID:11073597
1566401	Meg3	maternally expressed 3	gene	DOID:1561	cognitive disorder		ISO	RGD:1351308	D	RGD:11554173	20230606	CTD		CTD Direct Evidence: therapeutic	PMID:35164634
1566401	Meg3	maternally expressed 3	gene	DOID:3275	thymoma		ISO	RGD:1351308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566401	Meg3	maternally expressed 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1351308	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566401	Meg3	maternally expressed 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566401	Meg3	maternally expressed 3	gene	DOID:674	cleft palate		ISO	RGD:1351308	D	RGD:11554173	20220614	CTD		CTD Direct Evidence: marker/mechanism	PMID:33812962
1566401	Meg3	maternally expressed 3	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1351308	D	RGD:11554173	20220614	CTD		CTD Direct Evidence: therapeutic	PMID:34520792
1566401	Meg3	maternally expressed 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566401	Meg3	maternally expressed 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566403	Tmem181	transmembrane protein 181	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566403	Tmem181	transmembrane protein 181	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350892	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566403	Tmem181	transmembrane protein 181	gene	DOID:10534	stomach cancer		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566403	Tmem181	transmembrane protein 181	gene	DOID:1909	melanoma		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566403	Tmem181	transmembrane protein 181	gene	DOID:4362	cervical cancer		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566403	Tmem181	transmembrane protein 181	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1566403	Tmem181	transmembrane protein 181	gene	DOID:5041	esophageal cancer		ISO	RGD:1350892	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566403	Tmem181	transmembrane protein 181	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566403	Tmem181	transmembrane protein 181	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566403	Tmem181	transmembrane protein 181	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566405	Tvp23a	trans-golgi network vesicle protein 23 homolog A	gene	DOID:4362	cervical cancer		ISO	RGD:1343449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566405	Tvp23a	trans-golgi network vesicle protein 23 homolog A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566405	Tvp23a	trans-golgi network vesicle protein 23 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566405	Tvp23a	trans-golgi network vesicle protein 23 homolog A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566407	Efhb	EF hand domain family, member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566407	Efhb	EF hand domain family, member B	gene	DOID:10534	stomach cancer		ISO	RGD:1349676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566407	Efhb	EF hand domain family, member B	gene	DOID:3275	thymoma		ISO	RGD:1349676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566407	Efhb	EF hand domain family, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566407	Efhb	EF hand domain family, member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566407	Efhb	EF hand domain family, member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566407	Efhb	EF hand domain family, member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566408	Lin28a	lin-28 RNA binding posttranscriptional regulator A	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316876	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19483683
1566408	Lin28a	lin-28 RNA binding posttranscriptional regulator A	gene	DOID:1909	melanoma		ISO	RGD:1316876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566408	Lin28a	lin-28 RNA binding posttranscriptional regulator A	gene	DOID:2154	nephroblastoma		ISS	RGD:1316877	D	RGD:13592920	20240425	MouseDO		OMIM:194070	
1566408	Lin28a	lin-28 RNA binding posttranscriptional regulator A	gene	DOID:3070	high grade glioma		ISO	RGD:1316876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1566408	Lin28a	lin-28 RNA binding posttranscriptional regulator A	gene	DOID:4362	cervical cancer		ISO	RGD:1316876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566408	Lin28a	lin-28 RNA binding posttranscriptional regulator A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566408	Lin28a	lin-28 RNA binding posttranscriptional regulator A	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1316876	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:26910839
1566408	Lin28a	lin-28 RNA binding posttranscriptional regulator A	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1316876	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19483683
1566408	Lin28a	lin-28 RNA binding posttranscriptional regulator A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566413	Cldnd2	claudin domain containing 2	gene	DOID:0080600	COVID-19		ISO	RGD:1604242	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1566413	Cldnd2	claudin domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566413	Cldnd2	claudin domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604242	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566413	Cldnd2	claudin domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566416	Dok7	docking protein 7	gene	DOID:0050840	cervical dystonia		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:28492532
1566416	Dok7	docking protein 7	gene	DOID:0060249	scoliosis		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:0060260	ptosis		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:0060572	Ritscher-Schinzel syndrome 2		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425|PMID:31618753
1566416	Dok7	docking protein 7	gene	DOID:0110668	congenital myasthenic syndrome 10		ISO	RGD:1604958	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1566416	Dok7	docking protein 7	gene	DOID:0110668	congenital myasthenic syndrome 10		ISO	RGD:1604958	D	RGD:7240710	20130221	OMIM			
1566416	Dok7	docking protein 7	gene	DOID:0110668	congenital myasthenic syndrome 10		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 10 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 10 | ClinVar Annotator: match by term: congenital myasthenic syndrome 10	PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18567858|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20603078|PMID:20610155|PMID:21041412|PMID:21520333|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25741868|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28508085|PMID:28716243|PMID:29054425|PMID:29118959|PMID:29395675|PMID:30266093|PMID:31618753|PMID:33146414|PMID:33756069|PMID:34027146|PMID:36099689|PMID:36579833|PMID:37646703|PMID:38374194|PMID:38907197|PMID:40330390|PMID:8907197|PMID:9536098
1566416	Dok7	docking protein 7	gene	DOID:0110668	congenital myasthenic syndrome 10		ISS	RGD:1615685	D	RGD:13592920	20230718	MouseDO		OMIM:254300	
1566416	Dok7	docking protein 7	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:16794080|PMID:16917026|PMID:18626973|PMID:19261599|PMID:25741868|PMID:28492532
1566416	Dok7	docking protein 7	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:0111376	fetal akinesia deformation sequence syndrome 3		ISO	RGD:1604958	D	RGD:7240710	20190501	OMIM			
1566416	Dok7	docking protein 7	gene	DOID:0111376	fetal akinesia deformation sequence syndrome 3		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DOK7-related condition | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:33146414|PMID:33756069|PMID:34682862|PMID:36579833|PMID:37849383|PMID:40330390
1566416	Dok7	docking protein 7	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1604958	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:10222457|PMID:1483054|PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20603078|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25625551|PMID:25741868|PMID:25849006|PMID:26436962|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28508085|PMID:28716243|PMID:29054425|PMID:29118959|PMID:29395675|PMID:30266093|PMID:31618753|PMID:31880392|PMID:32331917|PMID:33146414|PMID:9536098
1566416	Dok7	docking protein 7	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1604958	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1	PMID:10222457|PMID:1483054|PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18567858|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20603078|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25625551|PMID:25741868|PMID:25849006|PMID:26436962|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28508085|PMID:28716243|PMID:29054425|PMID:29118959|PMID:29395675|PMID:30266093|PMID:31618753|PMID:31880392|PMID:32331917|PMID:33146414|PMID:33756069|PMID:34027146|PMID:36099689|PMID:36579833|PMID:37273706|PMID:9536098
1566416	Dok7	docking protein 7	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1604958	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1	PMID:10222457|PMID:1483054|PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18567858|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20603078|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25625551|PMID:25741868|PMID:25849006|PMID:26436962|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28508085|PMID:28716243|PMID:29054425|PMID:29118959|PMID:29395675|PMID:30266093|PMID:31589614|PMID:31618753|PMID:31880392|PMID:32153140|PMID:32331917|PMID:32360404|PMID:33146414|PMID:33756069|PMID:33820833|PMID:34027146|PMID:34418069|PMID:34682862|PMID:36099689|PMID:36579833|PMID:37273706|PMID:37721175|PMID:37849383|PMID:38725677|PMID:9536098
1566416	Dok7	docking protein 7	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25741868|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:33146414|PMID:33756069|PMID:37721175|PMID:38374194|PMID:38907197|PMID:40330390|PMID:8907197|PMID:9536098
1566416	Dok7	docking protein 7	gene	DOID:1059	intellectual disability		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1566416	Dok7	docking protein 7	gene	DOID:10907	microcephaly		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1566416	Dok7	docking protein 7	gene	DOID:10965	spastic diplegia		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:25741868|PMID:28492532
1566416	Dok7	docking protein 7	gene	DOID:11830	myopia		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:12215	oligohydramnios		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28492532
1566416	Dok7	docking protein 7	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868|PMID:28492532
1566416	Dok7	docking protein 7	gene	DOID:1826	epilepsy		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1566416	Dok7	docking protein 7	gene	DOID:1826	epilepsy		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: epilepsy	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:1909	melanoma		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566416	Dok7	docking protein 7	gene	DOID:2841	asthma		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
1566416	Dok7	docking protein 7	gene	DOID:3086	gingival overgrowth		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	PMID:25741868|PMID:28492532
1566416	Dok7	docking protein 7	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1604958	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25849006|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29118959|PMID:31880392
1566416	Dok7	docking protein 7	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25741868|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:33146414|PMID:33756069|PMID:38374194|PMID:38907197|PMID:8907197
1566416	Dok7	docking protein 7	gene	DOID:3883	Lynch syndrome		ISO	RGD:1604958	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Lynch syndrome	PMID:22661499|PMID:25326635|PMID:25741868|PMID:28492532|PMID:33146414
1566416	Dok7	docking protein 7	gene	DOID:423	myopathy		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:480	movement disease		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1566416	Dok7	docking protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566416	Dok7	docking protein 7	gene	DOID:630	genetic disease		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16794080|PMID:16917026|PMID:18626973|PMID:19261599|PMID:25741868|PMID:28492532
1566416	Dok7	docking protein 7	gene	DOID:630	genetic disease		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:870	neuropathy		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
1566416	Dok7	docking protein 7	gene	DOID:9001350	Aicardi-Goutieres Syndrome 1		ISO	RGD:1604958	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1	PMID:25741868
1566416	Dok7	docking protein 7	gene	DOID:9001581	Constipation		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:9002969	Nevus		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:9004866	Ataxia		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:9007573	Flatfoot		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:987	alopecia		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566416	Dok7	docking protein 7	gene	DOID:9970	obesity		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
1566418	Chlsn	cholesin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566418	Chlsn	cholesin	gene	DOID:0060058	lymphoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1566418	Chlsn	cholesin	gene	DOID:10534	stomach cancer		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1566418	Chlsn	cholesin	gene	DOID:1909	melanoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566418	Chlsn	cholesin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566418	Chlsn	cholesin	gene	DOID:3275	thymoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566418	Chlsn	cholesin	gene	DOID:4362	cervical cancer		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566418	Chlsn	cholesin	gene	DOID:5041	esophageal cancer		ISO	RGD:1603950	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566418	Chlsn	cholesin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566418	Chlsn	cholesin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566418	Chlsn	cholesin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566418	Chlsn	cholesin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566418	Chlsn	cholesin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1566420	Fbxl8	F-box and leucine-rich repeat protein 8	gene	DOID:3275	thymoma		ISO	RGD:1352579	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566420	Fbxl8	F-box and leucine-rich repeat protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566421	Nipsnap2	nipsnap homolog 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566421	Nipsnap2	nipsnap homolog 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566421	Nipsnap2	nipsnap homolog 2	gene	DOID:0060058	lymphoma		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1566421	Nipsnap2	nipsnap homolog 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1566421	Nipsnap2	nipsnap homolog 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1566421	Nipsnap2	nipsnap homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566421	Nipsnap2	nipsnap homolog 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1566421	Nipsnap2	nipsnap homolog 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566421	Nipsnap2	nipsnap homolog 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566425	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566425	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:0070268	congenital disorder of glycosylation type IIp		ISO	RGD:1348837	D	RGD:7240710	20190315	OMIM			
1566425	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:0070268	congenital disorder of glycosylation type IIp		ISO	RGD:1348837	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDG IIp | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | ClinVar Annotator: match by term: TMEM199-CDG | ClinVar Annotator: match by term: TMEM199-related condition	PMID:25741868|PMID:28492532
1566425	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:0080561	congenital disorder of glycosylation Ii		ISO	RGD:1348837	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: Congenital disorders of Glycosylation type II | ClinVar Annotator: match by term: Congenital disorders of glycosylation type II	PMID:25741868|PMID:26833330|PMID:28492532|PMID:29321044
1566425	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:1115	sarcoma		ISO	RGD:1348837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1566425	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566425	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:3275	thymoma		ISO	RGD:1348837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566425	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1566425	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:630	genetic disease		ISO	RGD:1348837	D	RGD:8554872	20250812	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1566425	Vma12	vacuolar ATPase assembly factor VMA12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1566426	Ncoa7	nuclear receptor coactivator 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1566426	Ncoa7	nuclear receptor coactivator 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1566426	Ncoa7	nuclear receptor coactivator 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603583	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1566426	Ncoa7	nuclear receptor coactivator 7	gene	DOID:1909	melanoma		ISO	RGD:1603583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1566426	Ncoa7	nuclear receptor coactivator 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1566426	Ncoa7	nuclear receptor coactivator 7	gene	DOID:3275	thymoma		ISO	RGD:1603583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1566426	Ncoa7	nuclear receptor coactivator 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1566426	Ncoa7	nuclear receptor coactivator 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1603583	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1566426	Ncoa7	nuclear receptor coactivator 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1566426	Ncoa7	nuclear receptor coactivator 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1566426	Ncoa7	nuclear receptor coactivator 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1603583	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
1566426	Ncoa7	nuclear receptor coactivator 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1566426	Ncoa7	nuclear receptor coactivator 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1603583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1566447	GK/MolTac	Goto-Kakizaki	strain	DOID:4195	hyperglycemia		IAGP		D	RGD:626167415|PMID:21490936	20250825	RGD		compared to control Wistar	
1566455	HTX/HcjRrrc		strain	DOID:10908	hydrocephalus	MODEL:spontaneous	IAGP		D	RGD:1559414|PMID:7257730	19990101	RGD			
1566456	BDIX/Zte		strain	DOID:3192	neurilemmoma		IAGP		D	RGD:1559300|PMID:16003739	19990101	RGD			
1576302	Schws4	Schwannoma susceptibility QTL 4	qtl	DOID:3192	neurilemmoma		IAGP		D	RGD:1559300|PMID:16003739	19990101	RGD			
1576303	Ept7	Estrogen-induced pituitary tumorigenesis QTL 7	qtl	DOID:9002234	Pituitary Neoplasms		IDA		D	RGD:1642526|PMID:17876666	20070928	RGD			
1576304	Schws7	Schwannoma susceptibility QTL 7	qtl	DOID:3192	neurilemmoma		IAGP		D	RGD:1559300|PMID:16003739	19990101	RGD			
1576305	Emca6	Estrogen-induced mammary cancer QTL 6	qtl	DOID:9005233	Experimental Mammary Neoplasms		IDA		D	RGD:1642522|PMID:16885383	20120810	RGD			
1576306	Schws3	Schwannoma susceptibility QTL 3	qtl	DOID:3192	neurilemmoma		IAGP		D	RGD:1559300|PMID:16003739	19990101	RGD			
1576307	Cia28	Collagen induced arthritis QTL 28	qtl	DOID:9002457	Experimental Arthritis		IDA		D	RGD:1359065|PMID:15944295	20130711	RGD			
1576308	Schws1	Schwannoma susceptibility QTL 1	qtl	DOID:3192	neurilemmoma		IAGP		D	RGD:1559300|PMID:16003739	19990101	RGD			
1576309	Emca7	Estrogen-induced mammary cancer QTL 7	qtl	DOID:9005233	Experimental Mammary Neoplasms		IDA		D	RGD:1642522|PMID:16885383	20120810	RGD			
1576310	Schws2	Schwannoma susceptibility QTL 2	qtl	DOID:3192	neurilemmoma		IAGP		D	RGD:1559300|PMID:16003739	19990101	RGD			
1576311	Pia26	Pristane induced arthritis QTL 26	qtl	DOID:9002457	Experimental Arthritis		IDA		D	RGD:1358860|PMID:15641042	20081215	RGD			
1576311	Pia26	Pristane induced arthritis QTL 26	qtl	DOID:9002457	Experimental Arthritis		IDA		D	RGD:1359065|PMID:15944295	20130711	RGD			
1576312	Emca8	Estrogen-induced mammary cancer QTL 8	qtl	DOID:9005233	Experimental Mammary Neoplasms		IDA		D	RGD:1642522|PMID:16885383	20120810	RGD			
1576313	Pia25	Pristane induced arthritis QTL 25	qtl	DOID:9002457	Experimental Arthritis		IDA		D	RGD:1359065|PMID:15944295	20130711	RGD			
1576314	Eutr1	Estrogen induced uterine response QTL 1	qtl	DOID:104	bacterial infectious disease		IAGP		D	RGD:1559292|PMID:16284801	19990101	RGD			
1576314	Eutr1	Estrogen induced uterine response QTL 1	qtl	DOID:9005372	Inflammation		IAGP		D	RGD:1559292|PMID:16284801	19990101	RGD			
1576315	Schws6	Schwannoma susceptibility QTL 6	qtl	DOID:3192	neurilemmoma		IAGP		D	RGD:1559300|PMID:16003739	19990101	RGD			
1576316	Ept5	Estrogen-induced pituitary tumorigenesis QTL 5	qtl	DOID:9002234	Pituitary Neoplasms		IDA		D	RGD:1642526|PMID:17876666	20070928	RGD			
1576317	Eutr2	Estrogen induced uterine response QTL 2	qtl	DOID:104	bacterial infectious disease		IAGP		D	RGD:1559291|PMID:16284802	19990101	RGD			
1576317	Eutr2	Estrogen induced uterine response QTL 2	qtl	DOID:9005372	Inflammation		IAGP		D	RGD:1559291|PMID:16284802	19990101	RGD			
1576318	Schws5	Schwannoma susceptibility QTL 5	qtl	DOID:3192	neurilemmoma		IAGP		D	RGD:1559300|PMID:16003739	19990101	RGD			
1576319	Cia29	Collagen induced arthritis QTL 29	qtl	DOID:9002457	Experimental Arthritis		IDA		D	RGD:1359065|PMID:15944295	20130711	RGD			
1578646	Bmd18	Bone mineral density QTL 18	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578647	Bmd17	Bone mineral density QTL 17	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578648	Bss11	Bone structure and strength QTL 11	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578649	Bmd8	Bone mineral density QTL 8	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578650	Bmd6	Bone mineral density QTL 6	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578651	Bmd7	Bone mineral density QTL 7	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578652	Bmd15	Bone mineral density QTL 15	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578653	Vnigr3	Vascular neointimal growth QTL 3	qtl	DOID:9002221	Hyperplasia		IAGP		D	RGD:1578306|PMID:16434542	19990101	RGD			
1578654	Bss10	Bone structure and strength QTL 10	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578655	Bmd11	Bone mineral density QTL 11	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578656	Vnigr2	Vascular neointimal growth QTL 2	qtl	DOID:9002221	Hyperplasia		IAGP		D	RGD:1578306|PMID:16434542	19990101	RGD			
1578657	Bss12	Bone structure and strength QTL 12	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578658	Bss13	Bone structure and strength QTL 13	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578659	Tspe1	Trichinella spiralis expulsion QTL 1	qtl	DOID:9002892	Parasitic Intestinal Diseases		IAGP		D	RGD:1578305|PMID:16465509	19990101	RGD			
1578659	Tspe1	Trichinella spiralis expulsion QTL 1	qtl	DOID:9002992	Nematode Infections		IAGP		D	RGD:1578305|PMID:16465509	19990101	RGD			
1578660	Bss19	Bone structure and strength QTL 19	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578661	Bss20	Bone structure and strength QTL 20	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578662	Bss15	Bone structure and strength QTL 15	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578663	Bss18	Bone structure and strength QTL 18	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578664	Bmd9	Bone mineral QTL density 9	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578665	Bss16	Bone structure and strength QTL 16	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578666	Vnigr1	Vascular neointimal growth QTL 1	qtl	DOID:9002221	Hyperplasia		IAGP		D	RGD:1578306|PMID:16434542	19990101	RGD			
1578667	Bss21	Bone structure and strength QTL 21	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578668	Bmd14	Bone mineral density QTL 14	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578669	Bss9	Bone structure and strength QTL 9	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578670	Bss14	Bone structure and strength QTL 14	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578671	Bmd10	Bone mineral density QTL 10	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578672	Bmd16	Bone mineral density QTL 16	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578673	Bmd13	Bone mineral density QTL 13	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578674	Bmd12	Bone mineral density QTL 12	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578675	Bss17	Bone structure and strength QTL 17	qtl	DOID:11476	osteoporosis		IAGP		D	RGD:1578307|PMID:16461031	19990101	RGD			
1578692	BN.LEW-(<i>D10Rat32-D10Rat116</i>)/Ciml		strain	DOID:9965	toxoplasmosis		IAGP		D	RGD:1578521|PMID:16407112	19990101	RGD			
1578693	LEW.BN-(<i>D10Mco17-D10Rat221</i>)/Ciml		strain	DOID:9965	toxoplasmosis		IAGP		D	RGD:1578521|PMID:16407112	19990101	RGD			
1578697	BN.LEW-(<i>D10Rat32-D10Rat31</i>)/Ciml		strain	DOID:9965	toxoplasmosis		IAGP		D	RGD:1578521|PMID:16407112	19990101	RGD			
1578699	BG	anemic Belgrade	strain	DOID:11759	hypochromic anemia		IAGP		D	RGD:729808|PMID:9448300	19990101	RGD			
1578702	LEW.BN-(<i>D10Rat32-D10Rat133</i>)/Ciml		strain	DOID:9965	toxoplasmosis		IAGP		D	RGD:1578521|PMID:16407112	19990101	RGD			
1578704	WLP	Warsaw Low Prefering	strain	DOID:1574	alcohol use disorder		IAGP		D	RGD:1358540|PMID:15215567	19990101	RGD		controls, compared to WHP rats	
1578705	LEW.BN-(<i>D10Arb4-D10Rat133</i>)/Ciml		strain	DOID:9965	toxoplasmosis		IAGP		D	RGD:1578521|PMID:16407112	19990101	RGD			
1578706	LEW.BN-(<i>D10Mco17-D10Mco14</i>)/Ciml		strain	DOID:9965	toxoplasmosis		IAGP		D	RGD:1578521|PMID:16407112	19990101	RGD			
1578708	LEW.BN-(<i>D10Mgh7-D10Rat221</i>)/Ciml		strain	DOID:9965	toxoplasmosis		IAGP		D	RGD:1578521|PMID:16407112	19990101	RGD			
1578709	IA	incisor absent	strain	DOID:9003128	Ectopic Tooth Eruption		IAGP		D	RGD:1578477|PMID:818350	19990101	RGD			
1578710	LEW.1AR1-<I>iddm</I>/Ztm		strain	DOID:4195	hyperglycemia		IAGP		D	RGD:1547853|PMID:16075370	19990101	RGD		compared to LEW.1AR1/Ztm strain	
1578710	LEW.1AR1-<I>iddm</I>/Ztm		strain	DOID:9744	type 1 diabetes mellitus		IAGP		D	RGD:1547853|PMID:16075370	19990101	RGD			
1578710	LEW.1AR1-<I>iddm</I>/Ztm		strain	DOID:9744	type 1 diabetes mellitus	MODEL: spontaneous	IAGP		D	RGD:11532657|PMID:26363782	20181206	RGD			
1578710	LEW.1AR1-<I>iddm</I>/Ztm		strain	DOID:9744	type 1 diabetes mellitus	MODEL: spontaneous	IAGP		D	RGD:41412198|PMID:11596676	20210223	RGD			
1578711	LEW.BN-(<i>D10Mco17-D10Rat133</i>)/Ciml		strain	DOID:9965	toxoplasmosis		IAGP		D	RGD:1578521|PMID:16407112	19990101	RGD			
1578712	BN.LEW-(<i>D10Mco17-D10Mco14</i>)/Ciml		strain	DOID:9965	toxoplasmosis		IAGP		D	RGD:1578521|PMID:16407112	19990101	RGD			
1578714	BN.LEW-(<i>D10Mco17-D10Rat80</i>)/Ciml		strain	DOID:9965	toxoplasmosis		IAGP		D	RGD:1578521|PMID:16407112	19990101	RGD			
1578715	ANT	Alcohol-Nontolerant	strain	DOID:9004866	Ataxia	induces	IAGP	XCO:0000325	D	RGD:1578556|PMID:15082942	19990101	RGD		compared to alcohol tolerant strain (AT)	
1578716	LEW.1AR1/Ztm		strain	DOID:9006647	Experimental Autoimmune Neuritis		IAGP	XCO:0000292|XCO:0000291	D	RGD:2306736|PMID:15342198	20200603	RGD			
1578716	LEW.1AR1/Ztm		strain	DOID:9744	type 1 diabetes mellitus	no_association	IAGP		D	RGD:11532657|PMID:26363782	20181206	RGD			
1578717	WHP	Warsaw High Prefering	strain	DOID:1574	alcohol use disorder		IAGP		D	RGD:1358540|PMID:15215567	19990101	RGD		compared to WLP and Wistar rats	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737039	D	RGD:2289687|PMID:15897688	20080207	RGD		DNA:deletion	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:2154	nephroblastoma		ISO	RGD:737039	D	RGD:2289679|PMID:17369505	20080206	RGD		protein:increased expression:kidney	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:737039	D	RGD:2289686|PMID:16316628	20080206	RGD		DNA:hypermethylation:promoter	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:737039	D	RGD:2289677|PMID:17383681	20080206	RGD		DNA:hypermethylation:promoter:breast, serum	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:3068	glioblastoma	treatment	ISO	RGD:737039	D	RGD:8552659|PMID:10720483	20140423	RGD			
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:3304	germinoma		ISO	RGD:737039	D	RGD:2289698|PMID:9554401	20080207	RGD		DNA:transition:exon:142G>A	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737039	D	RGD:2289680|PMID:17201148	20080206	RGD		DNA:deletion	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737039	D	RGD:2289699|PMID:15232742	20080207	RGD		DNA:hypermethylation:promoter	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:737039	D	RGD:11251765|PMID:17507663	20160624	RGD			
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:5603	T-cell acute lymphoblastic leukemia	disease_progression	ISO	RGD:10322	D	RGD:11251741|PMID:16407836	20160624	RGD			
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:684	hepatocellular carcinoma		IEP		D	RGD:1600816|PMID:16317707	20160624	RGD		Protein:decreased expression:liver	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:8552	chronic myeloid leukemia	treatment	ISO	RGD:737039	D	RGD:11251777|PMID:16533530	20160624	RGD			
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:737039	D	RGD:2289675|PMID:17910346	20080206	RGD		protein:increased expression	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:737039	D	RGD:2289676|PMID:17415114	20080206	RGD		protein:increased expression:uterine cervix	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:737039	D	RGD:2289679|PMID:17369505	20080206	RGD		protein:increased expression:kidney	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:10322	D	RGD:2289681|PMID:17178860	20080206	RGD		DNA, mRNA, protein:hypermethylation, increased expression:exon, prostate	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737039	D	RGD:2289685|PMID:16483154	20080206	RGD		DNA:hypermethylation:promoter	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:737039	D	RGD:2289684|PMID:16799475	20080206	RGD		protein:increased expression:prostate gland	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:737039	D	RGD:2289676|PMID:17415114	20080206	RGD		protein:increased expression:uterine cervix	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:737039	D	RGD:2289678|PMID:17369842	20080206	RGD			
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:9005233	Experimental Mammary Neoplasms	disease_progression	ISO	RGD:10322	D	RGD:2289674|PMID:18060046	20080206	RGD			
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:9005804	Vulvar Neoplasms		ISO	RGD:737039	D	RGD:2289673|PMID:18192968	20080218	RGD		associated with Papillomavirus Infections;protein:increased expression:vulva	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:9005804	Vulvar Neoplasms		ISO	RGD:737039	D	RGD:2289682|PMID:16998595	20080206	RGD		protein:increased expression:vulva	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:9007715	Endometrial Neoplasms	severity	ISO	RGD:737039	D	RGD:2289683|PMID:16837908	20080206	RGD		protein:increased expression:endometrium	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737039	D	RGD:2289690|PMID:8686738	20080207	RGD		protein:decreased expression:breast	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:9008939	Breast Neoplasms	susceptibility	ISO	RGD:737039	D	RGD:8552384|PMID:23712779	20140422	RGD		DNA:hypermethylation:promoter	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737039	D	RGD:11252080|PMID:11697625	20160624	RGD		mRNA,protein:altered expression:bone marrow:	
1578733	Cdkn2a_v1	cyclin-dependent kinase inhibitor 2A, variant 1	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:737039	D	RGD:11252082|PMID:25675863	20160624	RGD			
1578738	Cdkn2a_v2	cyclin-dependent kinase inhibitor 2A, variant 2	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:10322	D	RGD:11251772|PMID:21622646	20160624	RGD			
1578738	Cdkn2a_v2	cyclin-dependent kinase inhibitor 2A, variant 2	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma	treatment	ISO	RGD:10322	D	RGD:11251751|PMID:16618932	20160624	RGD			
1578738	Cdkn2a_v2	cyclin-dependent kinase inhibitor 2A, variant 2	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:737039	D	RGD:2289686|PMID:16316628	20080206	RGD		DNA:hypermethylation:promoter	
1578738	Cdkn2a_v2	cyclin-dependent kinase inhibitor 2A, variant 2	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:737039	D	RGD:2289677|PMID:17383681	20080206	RGD		DNA:hypermethylation:promoter:breast, serum	
1578738	Cdkn2a_v2	cyclin-dependent kinase inhibitor 2A, variant 2	gene	DOID:3304	germinoma		ISO	RGD:737039	D	RGD:2289698|PMID:9554401	20080207	RGD		DNA:transition:exon:142G>A	
1578738	Cdkn2a_v2	cyclin-dependent kinase inhibitor 2A, variant 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737039	D	RGD:2289680|PMID:17201148	20080206	RGD		DNA:deletion	
1578738	Cdkn2a_v2	cyclin-dependent kinase inhibitor 2A, variant 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737039	D	RGD:2289699|PMID:15232742	20080207	RGD		DNA, protein:hypermethylation, increased expression:promoter, kidney	
1578738	Cdkn2a_v2	cyclin-dependent kinase inhibitor 2A, variant 2	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:10322	D	RGD:11251774|PMID:19759355	20160624	RGD			
1578738	Cdkn2a_v2	cyclin-dependent kinase inhibitor 2A, variant 2	gene	DOID:5603	T-cell acute lymphoblastic leukemia	disease_progression	ISO	RGD:10322	D	RGD:11251741|PMID:16407836	20160624	RGD			
1578738	Cdkn2a_v2	cyclin-dependent kinase inhibitor 2A, variant 2	gene	DOID:8552	chronic myeloid leukemia	treatment	ISO	RGD:737039	D	RGD:11251777|PMID:16533530	20160624	RGD			
1578738	Cdkn2a_v2	cyclin-dependent kinase inhibitor 2A, variant 2	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:737039	D	RGD:2289684|PMID:16799475	20080206	RGD		protein:increased expression:prostate gland	
1578738	Cdkn2a_v2	cyclin-dependent kinase inhibitor 2A, variant 2	gene	DOID:9005233	Experimental Mammary Neoplasms	disease_progression	ISO	RGD:10322	D	RGD:2289674|PMID:18060046	20080206	RGD			
1578738	Cdkn2a_v2	cyclin-dependent kinase inhibitor 2A, variant 2	gene	DOID:9008939	Breast Neoplasms	susceptibility	ISO	RGD:737039	D	RGD:8552384|PMID:23712779	20140422	RGD		DNA:hypermethylation:promoter	
1578738	Cdkn2a_v2	cyclin-dependent kinase inhibitor 2A, variant 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737039	D	RGD:11252080|PMID:11697625	20160624	RGD		mRNA,protein:altered expression:bone marrow:	
1578754	Stresp16	Stress response QTL 16	qtl	DOID:2030	anxiety disorder		IDA		D	RGD:1549862|PMID:16151695	20130712	RGD			
1578755	Pur5	Proteinuria QTL 5	qtl	DOID:576	proteinuria		IDA		D	RGD:1578520|PMID:16534143	19990101	RGD			
1578756	Iddm22	Insulin dependent diabetes mellitus QTL 22	qtl	DOID:4195	hyperglycemia		IAGP		D	RGD:1547853|PMID:16075370	19990101	RGD			
1578756	Iddm22	Insulin dependent diabetes mellitus QTL 22	qtl	DOID:9744	type 1 diabetes mellitus		IAGP		D	RGD:1547853|PMID:16075370	19990101	RGD			
1578756	Iddm22	Insulin dependent diabetes mellitus QTL 22	qtl	DOID:9744	type 1 diabetes mellitus		IDA		D	RGD:1547853|PMID:16075370	20120926	RGD			
1578757	Pur6	Proteinuria QTL 6	qtl	DOID:576	proteinuria		IDA		D	RGD:1578520|PMID:16534143	19990101	RGD			
1578758	Tcas9	Tongue tumor susceptibility QTL 9	qtl	DOID:9005873	Tongue Neoplasms		IAGP		D	RGD:634723|PMID:11429048	19990101	RGD			
1578759	Uae30	Urinary albumin excretion QTL 30	qtl	DOID:9001542	Albuminuria		IDA		D	RGD:1578520|PMID:16534143	19990101	RGD			
1578760	Cm53	Cardiac mass QTL 53	qtl	DOID:576	proteinuria		IAGP		D	RGD:1578520|PMID:16534143	19990101	RGD			
1578760	Cm53	Cardiac mass QTL 53	qtl	DOID:9001542	Albuminuria		IAGP		D	RGD:1578520|PMID:16534143	19990101	RGD			
1578761	Stresp21	Stress response QTL 21	qtl	DOID:2030	anxiety disorder		IDA		D	RGD:1549862|PMID:16151695	20130712	RGD			
1578762	Toxo1	Toxoplasma gondii resistance QTL 1	qtl	DOID:9965	toxoplasmosis		IAGP		D	RGD:1578521|PMID:16407112	19990101	RGD			
1578763	Kidm29	Kidney mass QTL 29	qtl	DOID:576	proteinuria		IAGP		D	RGD:1578520|PMID:16534143	19990101	RGD			
1578763	Kidm29	Kidney mass QTL 29	qtl	DOID:9001542	Albuminuria		IAGP		D	RGD:1578520|PMID:16534143	19990101	RGD			
1578764	Stresp19	Stress response QTL 19	qtl	DOID:2030	anxiety disorder		IDA		D	RGD:1549862|PMID:16151695	20130712	RGD			
1578765	Klgr1	Kidney lesion grade QTL 1	qtl	DOID:576	proteinuria		IAGP		D	RGD:1578520|PMID:16534143	19990101	RGD			
1578765	Klgr1	Kidney lesion grade QTL 1	qtl	DOID:9001542	Albuminuria		IAGP		D	RGD:1578520|PMID:16534143	19990101	RGD			
1578766	Tcas11	Tongue tumor susceptibility QTL 11	qtl	DOID:9005873	Tongue Neoplasms		IAGP		D	RGD:1578522|PMID:16527513	19990101	RGD			
1578767	Stresp17	Stress response QTL 17	qtl	DOID:2030	anxiety disorder		IDA		D	RGD:1549862|PMID:16151695	20130712	RGD			
1578768	Stresp22	Stress response QTL 22	qtl	DOID:2030	anxiety disorder		IDA		D	RGD:1549862|PMID:16151695	20130712	RGD			
1578769	Uae31	Urinary albumin excretion QTL 31	qtl	DOID:9001542	Albuminuria		IDA		D	RGD:1578520|PMID:16534143	19990101	RGD			
1578770	Stresp23	Stress response QTL 23	qtl	DOID:2030	anxiety disorder		IDA		D	RGD:1578503|PMID:16239369	20130716	RGD			
1578771	Stresp20	Stress response QTL 20	qtl	DOID:2030	anxiety disorder		IDA		D	RGD:1549862|PMID:16151695	20130712	RGD			
1578772	Stresp14	Stress response QTL 14	qtl	DOID:2030	anxiety disorder		IDA		D	RGD:1549862|PMID:16151695	20130712	RGD			
1578773	Iddm23	Insulin dependent diabetes mellitus QTL 23	qtl	DOID:4195	hyperglycemia		IAGP		D	RGD:1547853|PMID:16075370	19990101	RGD			
1578773	Iddm23	Insulin dependent diabetes mellitus QTL 23	qtl	DOID:9744	type 1 diabetes mellitus		IAGP		D	RGD:1547853|PMID:16075370	19990101	RGD			
1578773	Iddm23	Insulin dependent diabetes mellitus QTL 23	qtl	DOID:9744	type 1 diabetes mellitus		IDA		D	RGD:1547853|PMID:16075370	20120926	RGD			
1578774	Tcas8	Tongue tumor susceptibility QTL 8	qtl	DOID:9005873	Tongue Neoplasms		IAGP		D	RGD:634723|PMID:11429048	19990101	RGD			
1578775	Iddm21	Insulin dependent diabetes mellitus QTL 21	qtl	DOID:4195	hyperglycemia		IAGP		D	RGD:1547853|PMID:16075370	19990101	RGD			
1578775	Iddm21	Insulin dependent diabetes mellitus QTL 21	qtl	DOID:9744	type 1 diabetes mellitus		IAGP		D	RGD:1547853|PMID:16075370	19990101	RGD			
1578775	Iddm21	Insulin dependent diabetes mellitus QTL 21	qtl	DOID:9744	type 1 diabetes mellitus		IDA		D	RGD:1547853|PMID:16075370	20120926	RGD			
1578776	Stresp18	Stress response QTL 18	qtl	DOID:2030	anxiety disorder		IDA		D	RGD:1549862|PMID:16151695	20130712	RGD			
1578777	Stresp15	Stress response QTL 15	qtl	DOID:2030	anxiety disorder		IDA		D	RGD:1549862|PMID:16151695	20130712	RGD			
1578778	Pur4	Proteinuria QTL 4	qtl	DOID:576	proteinuria		IDA		D	RGD:1578520|PMID:16534143	19990101	RGD			
1578779	Tcas10	Tongue tumor susceptibility QTL 10	qtl	DOID:9005873	Tongue Neoplasms		IAGP		D	RGD:634723|PMID:11429048	19990101	RGD			
1578780	Cm52	Cardiac mass QTL 52	qtl	DOID:576	proteinuria		IAGP		D	RGD:1578520|PMID:16534143	19990101	RGD			
1578780	Cm52	Cardiac mass QTL 52	qtl	DOID:9001542	Albuminuria		IAGP		D	RGD:1578520|PMID:16534143	19990101	RGD			
1578791	Nr4a1<i><sup>m1Mcwi</sup></i>	nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin	gene	DOID:14330	Parkinson's disease	treatment	IMP	XCO:0000498, XCO:0000520	D	RGD:40924655|PMID:29530712	20210304	RGD		compared to wild-type and untreated	
1578791	Nr4a1<i><sup>m1Mcwi</sup></i>	nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin	gene	DOID:784	chronic kidney disease	disease_progression	IMP		D	RGD:12910103|PMID:24722447	20190821	RGD			
1578791	Nr4a1<i><sup>m1Mcwi</sup></i>	nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin	gene	DOID:9000808	Hypercholesterolemia		IMP		D	RGD:12910103|PMID:24722447	20201210	RGD		compared to FHH	
1578791	Nr4a1<i><sup>m1Mcwi</sup></i>	nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin	gene	DOID:9001542	Albuminuria		IMP		D	RGD:12910103|PMID:24722447	20201210	RGD		compared to FHH	
1578791	Nr4a1<i><sup>m1Mcwi</sup></i>	nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin	gene	DOID:9006599	Hypertriglyceridemia		IMP		D	RGD:12910103|PMID:24722447	20201210	RGD		compared to FHH	
1578791	Nr4a1<i><sup>m1Mcwi</sup></i>	nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin	gene	DOID:9008675	Dyskinesias	treatment	IMP	XCO:0000498, XCO:0000520	D	RGD:40924655|PMID:29530712	20210304	RGD		compared to wild-type and untreated	
1579693	T2DN/Mcwi		strain	DOID:1312	focal segmental glomerulosclerosis		IAGP		D	RGD:1303373|PMID:14988259	20070220	RGD			
1579693	T2DN/Mcwi		strain	DOID:4195	hyperglycemia		IAGP		D	RGD:1303373|PMID:14988259	20200303	RGD			
1579693	T2DN/Mcwi		strain	DOID:576	proteinuria		IAGP		D	RGD:1303373|PMID:14988259	20201028	RGD		compared to GK/Far, BN/NHsdMcwi	
1579693	T2DN/Mcwi		strain	DOID:9001542	Albuminuria		IAGP		D	RGD:1303373|PMID:14988259	20210125	RGD			
1579697	SS.SHR-(<i>D13Rat63-D13Mit1</i>)/Mco		strain	DOID:576	proteinuria		IAGP		D	RGD:2314528|PMID:19176703	20091119	RGD			
1579703	SS.SHR-(<i>D2Rat61-D2Mco18</i>)/Mco		strain	DOID:576	proteinuria		IAGP		D	RGD:1625111|PMID:17504948	20191126	RGD			
1579706	FHH-<i>Nr4a1<sup>m1Mcwi</i></sup>		strain	DOID:14330	Parkinson's disease	treatment	IMP	XCO:0000498, XCO:0000520	D	RGD:40924655|PMID:29530712	20210210	RGD		compared to wild-type and untreated	
1579706	FHH-<i>Nr4a1<sup>m1Mcwi</i></sup>		strain	DOID:784	chronic kidney disease	disease_progression	IMP		D	RGD:12910103|PMID:24722447	20190821	RGD			
1579706	FHH-<i>Nr4a1<sup>m1Mcwi</i></sup>		strain	DOID:9000808	Hypercholesterolemia		IMP		D	RGD:12910103|PMID:24722447	20191206	RGD		compared to FHH	
1579706	FHH-<i>Nr4a1<sup>m1Mcwi</i></sup>		strain	DOID:9001542	Albuminuria		IMP		D	RGD:12910103|PMID:24722447	20190821	RGD		compared to FHH	
1579706	FHH-<i>Nr4a1<sup>m1Mcwi</i></sup>		strain	DOID:9006599	Hypertriglyceridemia		IMP		D	RGD:12910103|PMID:24722447	20191206	RGD		compared to FHH	
1579706	FHH-<i>Nr4a1<sup>m1Mcwi</i></sup>		strain	DOID:9008675	Dyskinesias	treatment	IMP	XCO:0000498, XCO:0000520	D	RGD:40924655|PMID:29530712	20210210	RGD		compared to wild-type and untreated	
1579710	GK/Far	Goto-Kakizaki	strain	DOID:9001542	Albuminuria		IAGP		D	RGD:1303373|PMID:14988259	20200303	RGD			
1579710	GK/Far	Goto-Kakizaki	strain	DOID:9352	type 2 diabetes mellitus		IAGP		D	RGD:1303373|PMID:14988259	20200303	RGD			
1579915	Bp280	Blood pressure QTL 280	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20081029	RGD			
1579916	Bp270	Blood pressure QTL 270	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20081029	RGD			
1579917	Bp282	Blood pressure QTL 282	qtl	DOID:9006024	Hypotension		IAGP		D	RGD:1559293|PMID:16286573	20080418	RGD			
1579918	Bp279	Blood pressure QTL 279	qtl	DOID:10763	hypertension		IAGP		D	RGD:1559293|PMID:16286573	20080418	RGD			
1579919	Bp281	Blood pressure QTL 281	qtl	DOID:10763	hypertension		IAGP		D	RGD:1599557|PMID:17143582	20081029	RGD			
1580542	PCK-<i>Pkhd1<sup>pck</i></sup>/CrljCrl		strain	DOID:0050770	polycystic liver disease	MODEL: spontaneous	IAGP		D	RGD:1580540|PMID:10803363	20061024	RGD			
1580542	PCK-<i>Pkhd1<sup>pck</i></sup>/CrljCrl		strain	DOID:0050770	polycystic liver disease	MODEL: spontaneous	IAGP		D	RGD:628435|PMID:11135065	20191120	RGD			
1580542	PCK-<i>Pkhd1<sup>pck</i></sup>/CrljCrl		strain	DOID:0080322	polycystic kidney disease	MODEL: spontaneous	IAGP		D	RGD:1580540|PMID:10803363	20061024	RGD			
1580542	PCK-<i>Pkhd1<sup>pck</i></sup>/CrljCrl		strain	DOID:0080322	polycystic kidney disease	MODEL: spontaneous	IAGP		D	RGD:628435|PMID:11135065	20191120	RGD			
1580542	PCK-<i>Pkhd1<sup>pck</i></sup>/CrljCrl		strain	DOID:0110861	autosomal recessive polycystic kidney disease	MODEL: spontaneous	IAGP		D	RGD:70439|PMID:11919560	20160923	RGD			
1580542	PCK-<i>Pkhd1<sup>pck</i></sup>/CrljCrl		strain	DOID:2355	anemia		IAGP		D	RGD:1580540|PMID:10803363	20061024	RGD			
1580542	PCK-<i>Pkhd1<sup>pck</i></sup>/CrljCrl		strain	DOID:576	proteinuria		IAGP		D	RGD:12910103|PMID:24722447	20191206	RGD		compared to Crl:SD	
1580542	PCK-<i>Pkhd1<sup>pck</i></sup>/CrljCrl		strain	DOID:898	autosomal dominant polycystic kidney disease	disease_progression	IAGP		D	RGD:628435|PMID:11135065	20061024	RGD			
1580542	PCK-<i>Pkhd1<sup>pck</i></sup>/CrljCrl		strain	DOID:9000498	Emaciation		IAGP		D	RGD:1580540|PMID:10803363	20061024	RGD			
1581505	Rf54	Renal function QTL 54	qtl	DOID:1073	renal hypertension		IDA		D	RGD:1578407|PMID:16396943	20130715	RGD			
1581550	Pur8	Proteinuria QTL 8	qtl	DOID:576	proteinuria		IDA		D	RGD:1578520|PMID:16534143	19990101	RGD			
1581554	Pur11	Proteinuria QTL 11	qtl	DOID:576	proteinuria		IDA		D	RGD:1578520|PMID:16534143	20130716	RGD			
1581555	Eae19	Experimental allergic encephalomyelitis QTL 19	qtl	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IDA		D	RGD:1549617|PMID:15716504	20121107	RGD			
1581557	Eae16	Experimental allergic encephalomyelitis QTL 16	qtl	DOID:2377	multiple sclerosis		IAGP		D	RGD:629629|PMID:12517974	20121112	RGD			
1581557	Eae16	Experimental allergic encephalomyelitis QTL 16	qtl	DOID:9002079	Paresis		IAGP		D	RGD:629629|PMID:12517974	20121112	RGD			
1581557	Eae16	Experimental allergic encephalomyelitis QTL 16	qtl	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IAGP		D	RGD:629629|PMID:12517974	20121112	RGD			
1581557	Eae16	Experimental allergic encephalomyelitis QTL 16	qtl	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IDA		D	RGD:629629|PMID:12517974	20121114	RGD			
1581559	Eae18	Experimental allergic encephalomyelitis QTL 18	qtl	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IDA		D	RGD:1302800|PMID:11486278	20130702	RGD			
1581561	Eae22	Experimental allergic encephalomyelitis QTL 22	qtl	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IDA		D	RGD:1547849|PMID:15634914	20130711	RGD			
1581563	Uae33	Urinary albumin excretion QTL 33	qtl	DOID:9001542	Albuminuria		IDA		D	RGD:1578520|PMID:16534143	20130716	RGD			
1581565	Pur10	Proteinuria QTL 10	qtl	DOID:576	proteinuria		IDA		D	RGD:1578520|PMID:16534143	19990101	RGD			
1581566	Eae21	Experimental allergic encephalomyelitis QTL 21	qtl	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IDA		D	RGD:1547849|PMID:15634914	20130711	RGD			
1581569	Uae32	Urinary albumin excretion QTL 32	qtl	DOID:9001542	Albuminuria		IDA		D	RGD:1578520|PMID:16534143	19990101	RGD			
1581570	Eae17	Experimental allergic encephalomyelitis QTL 17	qtl	DOID:2377	multiple sclerosis		IAGP		D	RGD:629629|PMID:12517974	20121112	RGD			
1581570	Eae17	Experimental allergic encephalomyelitis QTL 17	qtl	DOID:9002079	Paresis		IAGP		D	RGD:629629|PMID:12517974	20121112	RGD			
1581570	Eae17	Experimental allergic encephalomyelitis QTL 17	qtl	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IAGP		D	RGD:629629|PMID:12517974	20121112	RGD			
1581570	Eae17	Experimental allergic encephalomyelitis QTL 17	qtl	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IDA		D	RGD:629629|PMID:12517974	20121114	RGD			
1581572	Uae35	Urinary albumin excretion QTL 35	qtl	DOID:9001542	Albuminuria		IDA		D	RGD:1578520|PMID:16534143	20130716	RGD			
1581573	Uae36	Urinary albumin excretion QTL 36	qtl	DOID:9001542	Albuminuria		IDA		D	RGD:1578520|PMID:16534143	20130716	RGD			
1581574	Eae20	Experimental allergic encephalomyelitis QTL 20	qtl	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IDA		D	RGD:1547849|PMID:15634914	20121107	RGD			
1581576	Pur7	Proteinuria QTL 7	qtl	DOID:576	proteinuria		IDA		D	RGD:1578520|PMID:16534143	19990101	RGD			
1581580	Uae34	Urinary albumin excretion QTL 34	qtl	DOID:9001542	Albuminuria		IDA		D	RGD:1578520|PMID:16534143	20130716	RGD			
1581618	SHRSP/Bbb		strain	DOID:0051061	stroke	MODEL: induced	IAGP	XCO:0000022,XCO:0000164,XCO:0000032,XCO:0000030	D	RGD:2307158|PMID:16835352	20191211	RGD		compared to SHRSR/Bbb	
1581618	SHRSP/Bbb		strain	DOID:10763	hypertension	susceptibility	IAGP		D	RGD:7771608|PMID:23901062	20201221	RGD		compared to F344	
1581618	SHRSP/Bbb		strain	DOID:576	proteinuria	induces	IAGP	XCO:0000022, XCO:0000164, XCO:0000032, XCO:0000030	D	RGD:2307158|PMID:16835352	20090520	RGD		compared to SHRSR/Bbb	
1581618	SHRSP/Bbb		strain	DOID:9004616	Left Ventricular Hypertrophy	susceptibility	IAGP		D	RGD:7771608|PMID:23901062	20201221	RGD		compared to F344	
1581619	BN.PD-(<i>D8Rat39-D8Rat35</i>),SHR-(<i>D2Mit4-D2Rat28</i>),SHR-(<i>D2Rat103-D2Rat107</i>)/Cub		strain	DOID:10603	glucose intolerance		IAGP		D	RGD:1580751|PMID:16822831	20061024	RGD			
1581622	SD-Tg(Ubc-eGFP-RNAi:Dazl)17-9GarRrrc		strain	DOID:12336	male infertility		IMP		D	RGD:1580353|PMID:16844779	20061024	RGD			
1581623	LA/Humd	low autotomy	strain	DOID:11446	sciatic neuropathy		IAGP		D	RGD:1580220|PMID:2234999	20061024	RGD			
1581623	LA/Humd	low autotomy	strain	DOID:9004287	Phantom Limb		IAGP		D	RGD:1580220|PMID:2234999	20061024	RGD			
1581623	LA/Humd	low autotomy	strain	DOID:9005968	Neuralgia	MODEL:control	IAGP		D	RGD:1580220|PMID:2234999	20061024	RGD		compared to HA/Humd	
1581640	HA/Humd	high autotomy	strain	DOID:11446	sciatic neuropathy	susceptibility	IAGP		D	RGD:1580220|PMID:2234999	20061024	RGD			
1581640	HA/Humd	high autotomy	strain	DOID:9004287	Phantom Limb	susceptibility	IAGP		D	RGD:1580220|PMID:2234999	20061024	RGD			
1581640	HA/Humd	high autotomy	strain	DOID:9005968	Neuralgia	susceptibility	IAGP		D	RGD:1580220|PMID:2234999	20061024	RGD		compared to LA/Humd	
1581645	LL/Mav		strain	DOID:10763	hypertension	MODEL: control	IAGP		D	RGD:13513906|PMID:16882881	20200227	RGD		compared to LH/Mav strain	
1581645	LL/Mav		strain	DOID:9004616	Left Ventricular Hypertrophy	MODEL: control	IAGP		D	RGD:13513906|PMID:16882881	20200214	RGD		compared to LH/Mav	
1581645	LL/Mav		strain	DOID:9351	diabetes mellitus	MODEL: control	IAGP		D	RGD:13441562|PMID:18443571	20191126	RGD		compared to LH/Mav	
1582186	FHH.FHH.1<sup>BN</sup>-(<i>D1Rat183-D1Rat76</i>)/Mcwi		strain	DOID:0050851	glomerulosclerosis		IAGP		D	RGD:1579884|PMID:16303858	20200117	RGD			
1582190	SS/JrHsd	Dahl Salt-Sensitive	strain	DOID:10763	hypertension	MODEL: induced	IAGP	XCO:0000022	D	RGD:8657131|PMID:23442991	20210113	RGD		compared to Lewis and congenic strains	
1582190	SS/JrHsd	Dahl Salt-Sensitive	strain	DOID:9003631	Diastolic Dysfunction	MODEL: induced	IAGP	XCO:0000022	D	RGD:8657131|PMID:23442991	20210113	RGD		compared to Lewis and congenic strains	
1582190	SS/JrHsd	Dahl Salt-Sensitive	strain	DOID:9004616	Left Ventricular Hypertrophy	MODEL: induced	IAGP	XCO:0000022	D	RGD:8657131|PMID:23442991	20210113	RGD		compared to Lewis and congenic strains	
1582196	FHH.FHH.1<sup>BN</sup>-(<i>D1Rat234-D1Rat265</i>)/Mcwi		strain	DOID:0050851	glomerulosclerosis		IAGP		D	RGD:1579884|PMID:16303858	20200117	RGD			
1582197	Gluco27	Glucose level QTL 27	qtl	DOID:4195	hyperglycemia		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582197	Gluco27	Glucose level QTL 27	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582199	Insul5	Insulin level QTL 5	qtl	DOID:2018	hyperinsulinism		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582199	Insul5	Insulin level QTL 5	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582201	Sffal2	Serum free fatty acids level QTL 2	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20130726	RGD			
1582203	Gluco19	Glucose level QTL 19	qtl	DOID:4195	hyperglycemia		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582203	Gluco19	Glucose level QTL 19	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582204	Livw1	Liver weight QTL 1	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582206	Kidm33	Kidney mass QTL 33	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582208	Kidm32	Kidney mass QTL 32	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582209	Gluco20	Glucose level QTL 20	qtl	DOID:4195	hyperglycemia		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582209	Gluco20	Glucose level QTL 20	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582210	Bw71	Body weight QTL 71	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582210	Bw71	Body weight QTL 71	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582212	Livw2	Liver weight QTL 2	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582213	Insul6	Insulin level QTL 6	qtl	DOID:2018	hyperinsulinism		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582213	Insul6	Insulin level QTL 6	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582214	Stl21	Serum triglyceride level QTL 21	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582216	Bw65	Body weight QTL 65	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582216	Bw65	Body weight QTL 65	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582218	Bw74	Body weight QTL 74	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582218	Bw74	Body weight QTL 74	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582219	Bw63	Body weight QTL 63	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582219	Bw63	Body weight QTL 63	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582221	Kidm30	Kidney mass QTL 30	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582222	Epfw2	Epididymal fat weight QTL 2	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582224	Epfw4	Epididymal fat weight QTL 4	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582225	Bw67	Body weight QTL 67	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582225	Bw67	Body weight QTL 67	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582226	Bw64	Body weight QTL 64	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582226	Bw64	Body weight QTL 64	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582227	Gluco30	Glucose level QTL 30	qtl	DOID:4195	hyperglycemia		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582227	Gluco30	Glucose level QTL 30	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582228	Epfw3	Epididymal fat weight QTL 3	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582229	Stl20	Serum triglyceride level QTL 20	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582230	Bw78	Body weight QTL 78	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582230	Bw78	Body weight QTL 78	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582232	Gluco25	Glucose level QTL 25	qtl	DOID:4195	hyperglycemia		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582232	Gluco25	Glucose level QTL 25	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582233	Insul10	Insulin level QTL 10	qtl	DOID:2018	hyperinsulinism		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582233	Insul10	Insulin level QTL 10	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582234	Gluco18	Glucose level QTL 18	qtl	DOID:4195	hyperglycemia		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582234	Gluco18	Glucose level QTL 18	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582235	Insul8	Insulin level QTL 8	qtl	DOID:2018	hyperinsulinism		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582235	Insul8	Insulin level QTL 8	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582236	Gluco22	Glucose level QTL 22	qtl	DOID:4195	hyperglycemia		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582236	Gluco22	Glucose level QTL 22	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582237	Kidm34	Kidney mass QTL 34	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582238	Bw68	Body weight QTL 68	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582238	Bw68	Body weight QTL 68	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582239	Epfw1	Epididymal fat weight QTL 1	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582240	Sffal1	Serum free fatty acids level QTL 1	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20130726	RGD			
1582241	Bw70	Body weight QTL 70	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582241	Bw70	Body weight QTL 70	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582242	Gluco28	Glucose level QTL 28	qtl	DOID:4195	hyperglycemia		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582242	Gluco28	Glucose level QTL 28	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582243	Bw66	Body weight QTL 66	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582243	Bw66	Body weight QTL 66	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582244	Bw79	Body weight QTL 79	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582244	Bw79	Body weight QTL 79	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582245	Bw73	Body weight QTL 73	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582245	Bw73	Body weight QTL 73	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582246	Cm60	Cardiac mass QTL 60	qtl	DOID:9003936	Cardiomegaly		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582246	Cm60	Cardiac mass QTL 60	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582248	Insul7	Insulin level QTL 7	qtl	DOID:2018	hyperinsulinism		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582248	Insul7	Insulin level QTL 7	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582249	Bw77	Body weight QTL 77	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582249	Bw77	Body weight QTL 77	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582250	Gluco26	Glucose level QTL 26	qtl	DOID:4195	hyperglycemia		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582250	Gluco26	Glucose level QTL 26	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582251	Gluco24	Glucose level QTL 24	qtl	DOID:4195	hyperglycemia		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582251	Gluco24	Glucose level QTL 24	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582252	Sual1	Serum uric acid level QTL 1	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582254	Kidm31	Kidney mass QTL 31	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582255	Gluco29	Glucose level QTL 29	qtl	DOID:4195	hyperglycemia		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582255	Gluco29	Glucose level QTL 29	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582256	Insul9	Insulin level QTL 9	qtl	DOID:2018	hyperinsulinism		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582256	Insul9	Insulin level QTL 9	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582257	Gluco21	Glucose level QTL 21	qtl	DOID:4195	hyperglycemia		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582257	Gluco21	Glucose level QTL 21	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582258	Bw76	Body weight QTL 76	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582258	Bw76	Body weight QTL 76	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582259	Gluco23	Glucose level QTL 23	qtl	DOID:4195	hyperglycemia		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582259	Gluco23	Glucose level QTL 23	qtl	DOID:9006646	Metabolic Syndrome		IDA		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582260	Bw72	Body weight QTL 72	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582260	Bw72	Body weight QTL 72	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582261	Bw69	Body weight QTL 69	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582261	Bw69	Body weight QTL 69	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582262	Bw75	Body weight QTL 75	qtl	DOID:9006646	Metabolic Syndrome		TAS		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582262	Bw75	Body weight QTL 75	qtl	DOID:9970	obesity		IAGP		D	RGD:1580752|PMID:15728334	20061103	RGD			
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:0060260	ptosis		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aganglionic megacolon	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:1059	intellectual disability		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:11476	osteoporosis		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:12849	autistic disorder		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:1682	congenital heart disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:1826	epilepsy		ISO	RGD:1317694	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:1891	optic nerve disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:1969	cerebral palsy		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:2030	anxiety disorder		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:3070	high grade glioma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:3275	thymoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:480	movement disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1317694	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:630	genetic disease		ISO	RGD:1317694	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33057194|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317694	D	RGD:11537550|PMID:26517514	20210412	RGD		mRNA:decreased expression:liver	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto thyroiditis	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:769	neuroblastoma		ISO	RGD:1317694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:8927	learning disability		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9000495	Tremor		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9002801	Recurrence		ISO	RGD:1317694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9003182	Parenti-Mignot Neurodevelopmental Syndrome		ISO	RGD:1317694	D	RGD:7240710	20221116	OMIM			
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9003182	Parenti-Mignot Neurodevelopmental Syndrome		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHD5-related condition | ClinVar Annotator: match by term: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Parenti-mignot neurodevelopmental syndrome	PMID:25741868|PMID:27616479|PMID:28492532|PMID:30397230|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9003539	Hyperacusis		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317694	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317694	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:33944996
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1317694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1582725	Chd5	chromodomain helicase DNA binding protein 5	gene	DOID:936	brain disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:33944996
1582742	Ubap1l	ubiquitin associated protein 1-like	gene	DOID:0081462	Zeitz-Han retinal dystrophy		ISO	RGD:5476950	D	RGD:7240710	20260506	OMIM			
1582742	Ubap1l	ubiquitin associated protein 1-like	gene	DOID:4448	macular degeneration		ISO	RGD:5476950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:25741868
1582742	Ubap1l	ubiquitin associated protein 1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:5476950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582742	Ubap1l	ubiquitin associated protein 1-like	gene	DOID:8501	fundus dystrophy		ISO	RGD:5476950	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
1582742	Ubap1l	ubiquitin associated protein 1-like	gene	DOID:9008283	Selective Tooth Agenesis 7		ISO	RGD:5476950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth agenesis, selective, 7	PMID:25741868
1582742	Ubap1l	ubiquitin associated protein 1-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:5476950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1582758	Zbtb42	zinc finger and BTB domain containing 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2290506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582758	Zbtb42	zinc finger and BTB domain containing 42	gene	DOID:0061262	lethal congenital contracture syndrome 6		ISO	RGD:2290506	D	RGD:7240710	20170503	OMIM			
1582758	Zbtb42	zinc finger and BTB domain containing 42	gene	DOID:0061262	lethal congenital contracture syndrome 6		ISO	RGD:2290506	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6 | ClinVar Annotator: match by term: ZBTB42-related condition	PMID:25741868
1582771	Katnbl1	katanin regulatory subunit B1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582771	Katnbl1	katanin regulatory subunit B1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1582771	Katnbl1	katanin regulatory subunit B1 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1582771	Katnbl1	katanin regulatory subunit B1 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1314664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1582771	Katnbl1	katanin regulatory subunit B1 like 1	gene	DOID:1909	melanoma		ISO	RGD:1314664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1582771	Katnbl1	katanin regulatory subunit B1 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1582771	Katnbl1	katanin regulatory subunit B1 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1582771	Katnbl1	katanin regulatory subunit B1 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314664	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1582771	Katnbl1	katanin regulatory subunit B1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582771	Katnbl1	katanin regulatory subunit B1 like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1582776	Rnpc3	RNA-binding region (RNP1, RRM) containing 3	gene	DOID:0060870	isolated growth hormone deficiency		ISO	RGD:1350307	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Growth hormone deficiency	
1582776	Rnpc3	RNA-binding region (RNP1, RRM) containing 3	gene	DOID:0061016	combined or isolated pituitary growth hormone deficiency 7		ISO	RGD:1350307	D	RGD:7240710	20190315	OMIM			
1582776	Rnpc3	RNA-binding region (RNP1, RRM) containing 3	gene	DOID:0061016	combined or isolated pituitary growth hormone deficiency 7		ISO	RGD:1350307	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Isolated growth hormone deficiency, type 5	PMID:25741868|PMID:35792517
1582776	Rnpc3	RNA-binding region (RNP1, RRM) containing 3	gene	DOID:3275	thymoma		ISO	RGD:1350307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1582776	Rnpc3	RNA-binding region (RNP1, RRM) containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582776	Rnpc3	RNA-binding region (RNP1, RRM) containing 3	gene	DOID:630	genetic disease		ISO	RGD:1350307	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1582776	Rnpc3	RNA-binding region (RNP1, RRM) containing 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24480542|PMID:25741868
1582776	Rnpc3	RNA-binding region (RNP1, RRM) containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:0070015	autosomal recessive dyskeratosis congenita 1		ISO	RGD:1353461	D	RGD:7240710	20180418	OMIM			
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:0070015	autosomal recessive dyskeratosis congenita 1		ISO	RGD:1353461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1	PMID:17576681|PMID:20301779|PMID:25741868|PMID:28492532|PMID:9536098
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1353461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:1115	sarcoma		ISO	RGD:1353461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1353461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:4362	cervical cancer		ISO	RGD:1353461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:9002616	Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2		ISO	RGD:1353461	D	RGD:7240710	20230712	OMIM			
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:9002616	Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2		ISO	RGD:1353461	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2	PMID:25741868
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:9004373	Autosomal Recessive Dyskeratosis Congenita		ISO	RGD:1353461	D	RGD:11554173	20180424	CTD		CTD Direct Evidence: marker/mechanism	
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353461	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:9008756	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9		ISO	RGD:1353461	D	RGD:7240710	20230607	OMIM			
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:9008756	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9		ISO	RGD:1353461	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9	
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1582780	Nop10	NOP10 ribonucleoprotein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1582781	Lilra5	leukocyte immunoglobulin like receptor A5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1582781	Lilra5	leukocyte immunoglobulin like receptor A5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582781	Lilra5	leukocyte immunoglobulin like receptor A5	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1601693	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1582797	Megf11	multiple EGF-like-domains 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582797	Megf11	multiple EGF-like-domains 11	gene	DOID:10534	stomach cancer		ISO	RGD:1603600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1582797	Megf11	multiple EGF-like-domains 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1603600	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1582797	Megf11	multiple EGF-like-domains 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582797	Megf11	multiple EGF-like-domains 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1582797	Megf11	multiple EGF-like-domains 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582798	Il17c	interleukin 17C	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1617344	D	RGD:632518409|PMID:17198762	20260213	RGD		mRNA:increased expression:lung	
1582798	Il17c	interleukin 17C	gene	DOID:9004610	Acute Lung Injury	treatment	IEP		D	RGD:631734363|PMID:32916233	20260209	RGD			
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:0060135	apraxia		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:25741868
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:0060351	mitochondrial complex III deficiency nuclear type 2		ISO	RGD:1353382	D	RGD:7240710	20140903	OMIM			
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:0060351	mitochondrial complex III deficiency nuclear type 2		ISO	RGD:1353382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 | ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 2 | ClinVar Annotator: match by term: TTC19-related condition	PMID:17576681|PMID:21278747|PMID:23532514|PMID:24368687|PMID:25741868|PMID:25887401|PMID:25899669|PMID:28128857|PMID:28492532|PMID:38127101|PMID:9536098
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1353382	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:1059	intellectual disability		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:12849	autistic disorder		ISO	RGD:1353382	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1353382	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:2841	asthma		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:4362	cervical cancer		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1353382	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:5223	infertility		ISO	RGD:1353382	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:543	dystonia		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:630	genetic disease		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1353382	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:863	nervous system disease		ISO	RGD:1353382	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:9001722	Dysarthria		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:9004866	Ataxia		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1353382	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582808	Ttc19	tetratricopeptide repeat domain 19	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1582810	Zfpm1	zinc finger protein, multitype 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1582810	Zfpm1	zinc finger protein, multitype 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582810	Zfpm1	zinc finger protein, multitype 1	gene	DOID:0080600	COVID-19		ISO	RGD:1314245	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1582810	Zfpm1	zinc finger protein, multitype 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1582810	Zfpm1	zinc finger protein, multitype 1	gene	DOID:1240	leukemia		ISO	RGD:1314245	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukemia	PMID:27993330
1582810	Zfpm1	zinc finger protein, multitype 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1314245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart defect	PMID:25741868
1582810	Zfpm1	zinc finger protein, multitype 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1582810	Zfpm1	zinc finger protein, multitype 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582810	Zfpm1	zinc finger protein, multitype 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1582810	Zfpm1	zinc finger protein, multitype 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1582810	Zfpm1	zinc finger protein, multitype 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1582813	Snapc5	small nuclear RNA activating complex, polypeptide 5	gene	DOID:0080690	RASopathy		ISO	RGD:11625327|RGD:126739265|RGD:12740672|RGD:12741123|RGD:13480538|RGD:13626530|RGD:14702882|RGD:14727158|RGD:14728171|RGD:14746586|RGD:150487418|RGD:151232383|RGD:151873791|RGD:152045346|RGD:152048977|RGD:152049746|RGD:152053919|RGD:152055882|RGD:155940411|RGD:156117879|RGD:156174080|RGD:156336875|RGD:34891219|RGD:38491380|RGD:38597509|RGD:401747570|RGD:402466226|RGD:402466230|RGD:402466235|RGD:402466245|RGD:402466883|RGD:402466904|RGD:402466909|RGD:402466913|RGD:402499607|RGD:402500740|RGD:402500749|RGD:405013234|RGD:405079186	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:28492532
1582813	Snapc5	small nuclear RNA activating complex, polypeptide 5	gene	DOID:1115	sarcoma		ISO	RGD:1313202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1582813	Snapc5	small nuclear RNA activating complex, polypeptide 5	gene	DOID:2843	long QT syndrome		ISO	RGD:1313202	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1582813	Snapc5	small nuclear RNA activating complex, polypeptide 5	gene	DOID:3490	Noonan syndrome		ISO	RGD:1313202	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Noonan syndrome	PMID:28492532
1582813	Snapc5	small nuclear RNA activating complex, polypeptide 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582813	Snapc5	small nuclear RNA activating complex, polypeptide 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1582817	Pwp2	PWP2, small subunit processome component	gene	DOID:10534	stomach cancer		ISO	RGD:1317740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1582817	Pwp2	PWP2, small subunit processome component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1582817	Pwp2	PWP2, small subunit processome component	gene	DOID:1115	sarcoma		ISO	RGD:1317740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1582817	Pwp2	PWP2, small subunit processome component	gene	DOID:1324	lung cancer		ISO	RGD:1317740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1582817	Pwp2	PWP2, small subunit processome component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1582817	Pwp2	PWP2, small subunit processome component	gene	DOID:3275	thymoma		ISO	RGD:1317740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1582817	Pwp2	PWP2, small subunit processome component	gene	DOID:4362	cervical cancer		ISO	RGD:1317740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1582817	Pwp2	PWP2, small subunit processome component	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1582817	Pwp2	PWP2, small subunit processome component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1582817	Pwp2	PWP2, small subunit processome component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582817	Pwp2	PWP2, small subunit processome component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1582817	Pwp2	PWP2, small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582817	Pwp2	PWP2, small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1582817	Pwp2	PWP2, small subunit processome component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1582820	Tmem169	transmembrane protein 169	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582820	Tmem169	transmembrane protein 169	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1582820	Tmem169	transmembrane protein 169	gene	DOID:5041	esophageal cancer		ISO	RGD:1602990	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:0060058	lymphoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:10534	stomach cancer		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:1059	intellectual disability		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:10907	microcephaly		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:1115	sarcoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:1324	lung cancer		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:1826	epilepsy		ISO	RGD:1350731	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:1909	melanoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:1969	cerebral palsy		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:2394	ovarian cancer		ISO	RGD:1350731	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:3275	thymoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:4362	cervical cancer		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1350731	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:6039	uveal melanoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350731	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DNAH14-Associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: DNAH14-related condition | ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1350731	D	RGD:8554872	20161025	ClinVar		ClinVar Annotator: match by term: Non-Immune hydrops fetalis	PMID:26036949
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1582826	Dnah14	dynein axonemal heavy chain 14	gene	DOID:9256	colorectal cancer		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1582828	Hlf	HLF transcription factor, PAR bZIP family member	gene	DOID:10283	prostate cancer		ISO	RGD:1347027	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1582828	Hlf	HLF transcription factor, PAR bZIP family member	gene	DOID:10283	prostate cancer		ISO	RGD:1347027	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1582828	Hlf	HLF transcription factor, PAR bZIP family member	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1347027	D	RGD:152995287|PMID:28035468	20220614	RGD		mRNA:altered expression:stomach tumor (human)	
1582828	Hlf	HLF transcription factor, PAR bZIP family member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1582828	Hlf	HLF transcription factor, PAR bZIP family member	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1347027	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:26214592
1582829	Tmem223	transmembrane protein 223	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2303656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582832	Tex28	testis expressed 28	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1342529	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia	PMID:28492532
1582838	Cimip5	ciliary microtubule inner protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582838	Cimip5	ciliary microtubule inner protein 5	gene	DOID:3275	thymoma		ISO	RGD:1604753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1582838	Cimip5	ciliary microtubule inner protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582851	Yaf2	YY1 associated factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582851	Yaf2	YY1 associated factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1582851	Yaf2	YY1 associated factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1314010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1582851	Yaf2	YY1 associated factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1314010	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1582851	Yaf2	YY1 associated factor 2	gene	DOID:3275	thymoma		ISO	RGD:1314010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1582851	Yaf2	YY1 associated factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1582857	Polr3gl	RNA polymerase III subunit GL	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1582857	Polr3gl	RNA polymerase III subunit GL	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582857	Polr3gl	RNA polymerase III subunit GL	gene	DOID:1324	lung cancer		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1582857	Polr3gl	RNA polymerase III subunit GL	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1582857	Polr3gl	RNA polymerase III subunit GL	gene	DOID:5041	esophageal cancer		ISO	RGD:1353647	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1582857	Polr3gl	RNA polymerase III subunit GL	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582857	Polr3gl	RNA polymerase III subunit GL	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1582857	Polr3gl	RNA polymerase III subunit GL	gene	DOID:9000738	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY		ISO	RGD:1353647	D	RGD:7240710	20210421	OMIM			
1582857	Polr3gl	RNA polymerase III subunit GL	gene	DOID:9000738	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY		ISO	RGD:1353647	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POLR3GL-related condition | ClinVar Annotator: match by term: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY	PMID:25741868
1582857	Polr3gl	RNA polymerase III subunit GL	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582858	Prelid3a	PRELI domain containing 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582858	Prelid3a	PRELI domain containing 3A	gene	DOID:3275	thymoma		ISO	RGD:1315398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1582858	Prelid3a	PRELI domain containing 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1315398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1582858	Prelid3a	PRELI domain containing 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582858	Prelid3a	PRELI domain containing 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1582859	Cnih3	cornichon family AMPA receptor auxiliary protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1343893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1582859	Cnih3	cornichon family AMPA receptor auxiliary protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1343893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1582859	Cnih3	cornichon family AMPA receptor auxiliary protein 3	gene	DOID:289	endometriosis		ISO	RGD:1343893	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
1582859	Cnih3	cornichon family AMPA receptor auxiliary protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:1343893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1582859	Cnih3	cornichon family AMPA receptor auxiliary protein 3	gene	DOID:3275	thymoma		ISO	RGD:1343893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1582859	Cnih3	cornichon family AMPA receptor auxiliary protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1343893	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1582859	Cnih3	cornichon family AMPA receptor auxiliary protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582881	Wdr74	WD repeat domain 74	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582881	Wdr74	WD repeat domain 74	gene	DOID:0080600	COVID-19		ISO	RGD:1603395	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
1582881	Wdr74	WD repeat domain 74	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1603395	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25261935
1582881	Wdr74	WD repeat domain 74	gene	DOID:1909	melanoma		ISO	RGD:1603395	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
1582881	Wdr74	WD repeat domain 74	gene	DOID:4362	cervical cancer		ISO	RGD:1603395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1582881	Wdr74	WD repeat domain 74	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582881	Wdr74	WD repeat domain 74	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1582881	Wdr74	WD repeat domain 74	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582881	Wdr74	WD repeat domain 74	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1582892	Pcnx4	pecanex 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1582892	Pcnx4	pecanex 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582892	Pcnx4	pecanex 4	gene	DOID:10534	stomach cancer		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1582892	Pcnx4	pecanex 4	gene	DOID:1115	sarcoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1582892	Pcnx4	pecanex 4	gene	DOID:1324	lung cancer		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1582892	Pcnx4	pecanex 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1582892	Pcnx4	pecanex 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1582892	Pcnx4	pecanex 4	gene	DOID:4362	cervical cancer		ISO	RGD:1348042	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1582892	Pcnx4	pecanex 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582892	Pcnx4	pecanex 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1582892	Pcnx4	pecanex 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1582892	Pcnx4	pecanex 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582892	Pcnx4	pecanex 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1582892	Pcnx4	pecanex 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1582896	Slc16a5	solute carrier family 16 member 5	gene	DOID:0060058	lymphoma		ISO	RGD:1351583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1582896	Slc16a5	solute carrier family 16 member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1582896	Slc16a5	solute carrier family 16 member 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1582896	Slc16a5	solute carrier family 16 member 5	gene	DOID:3275	thymoma		ISO	RGD:1351583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1582896	Slc16a5	solute carrier family 16 member 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1582896	Slc16a5	solute carrier family 16 member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582896	Slc16a5	solute carrier family 16 member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319135	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319135	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: autism spectrum disorder	PMID:25741868
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:10534	stomach cancer		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:1115	sarcoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:1909	melanoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:2843	long QT syndrome		ISO	RGD:1319135	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:3275	thymoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:4362	cervical cancer		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1582897	Dip2a	Dip2 acetate--CoA ligase A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1582908	Hoxd9	homeo box D9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1582908	Hoxd9	homeo box D9	gene	DOID:1324	lung cancer		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1582908	Hoxd9	homeo box D9	gene	DOID:3030	mucinous adenocarcinoma		ISO	RGD:1354432	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075790
1582908	Hoxd9	homeo box D9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1582908	Hoxd9	homeo box D9	gene	DOID:4362	cervical cancer		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1582908	Hoxd9	homeo box D9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354432	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1582908	Hoxd9	homeo box D9	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1354432	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075790
1582908	Hoxd9	homeo box D9	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:1354432	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075790
1582908	Hoxd9	homeo box D9	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1354432	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075790
1582908	Hoxd9	homeo box D9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1582911	Kcnk16	potassium two pore domain channel subfamily K member 16	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1582911	Kcnk16	potassium two pore domain channel subfamily K member 16	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1582911	Kcnk16	potassium two pore domain channel subfamily K member 16	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1319410	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22158537
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:0110721	neuronal ceroid lipofuscinosis 1		ISO	RGD:1314738	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1	PMID:28492532
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:0111446	progressive myoclonus epilepsy 3		ISO	RGD:1314738	D	RGD:7240710	20160113	OMIM			
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:0111446	progressive myoclonus epilepsy 3		ISO	RGD:1314738	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions	PMID:16199547|PMID:17455289|PMID:17576681|PMID:18414213|PMID:22606975|PMID:22638565|PMID:22693283|PMID:22748208|PMID:25060828|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26795593|PMID:27742667|PMID:28492532|PMID:29056246|PMID:29302074|PMID:29619247|PMID:29655203|PMID:30295347|PMID:30500434|PMID:30776697|PMID:30825425|PMID:30919572|PMID:31130284|PMID:31216804|PMID:31965297|PMID:32412666|PMID:32581362|PMID:34866617|PMID:9536098
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:0111446	progressive myoclonus epilepsy 3		ISO	RGD:1314738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 3 | ClinVar Annotator: match by term: KCTD7-related condition	PMID:17576681|PMID:22693283|PMID:22748208|PMID:25060828|PMID:25533962|PMID:25741868|PMID:25976102|PMID:26467025|PMID:27742667|PMID:28492532|PMID:29056246|PMID:29302074|PMID:29619247|PMID:29655203|PMID:30295347|PMID:30500434|PMID:30825425|PMID:30919572|PMID:31130284|PMID:31160820|PMID:33767931|PMID:33970744|PMID:9536098
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:1059	intellectual disability		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25060828|PMID:25533962|PMID:25741868|PMID:27742667|PMID:28492532|PMID:30295347|PMID:30825425|PMID:30919572|PMID:32581362|PMID:37541188
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:10907	microcephaly		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1314738	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:22748208|PMID:25741868|PMID:25976102|PMID:27742667|PMID:28492532|PMID:30295347|PMID:31130284
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:22606975|PMID:22693283|PMID:22748208|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26795593|PMID:27742667|PMID:28492532|PMID:29056246|PMID:30295347|PMID:30825425|PMID:31130284|PMID:32404165|PMID:32412666|PMID:34395220|PMID:34866617|PMID:39675099|PMID:40996926
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:1596	depressive disorder		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:1824	status epilepticus		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25060828|PMID:25533962|PMID:25741868|PMID:27742667|PMID:28492532|PMID:30295347|PMID:30825425|PMID:30919572|PMID:32581362|PMID:37541188
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:1826	epilepsy		ISO	RGD:1314738	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:26467025|PMID:28492532
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:1826	epilepsy		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22606975|PMID:22693283|PMID:25741868|PMID:27742667|PMID:28492532|PMID:30295347|PMID:31130284|PMID:31160820|PMID:33970744|PMID:34866617
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:1827	generalized epilepsy		ISO	RGD:1314738	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:28492532|PMID:30295347|PMID:32581362|PMID:37541188
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:1909	melanoma		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:2030	anxiety disorder		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:630	genetic disease		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22748208|PMID:25060828|PMID:25533962|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26795593|PMID:27742667|PMID:28492532|PMID:29056246|PMID:30295347|PMID:30825425|PMID:30919572|PMID:31130284|PMID:32412666|PMID:32581362|PMID:34395220|PMID:37541188
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1314738	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: progressive myoclonus epilepsy	PMID:16199547|PMID:22693283|PMID:25741868|PMID:26795593|PMID:28492532
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:22606975|PMID:22693283|PMID:25741868|PMID:27742667|PMID:28492532|PMID:31160820|PMID:33970744|PMID:34866617
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9004866	Ataxia		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532|PMID:30295347|PMID:31130284
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25060828|PMID:25533962|PMID:25741868|PMID:27742667|PMID:28492532|PMID:30295347|PMID:30825425|PMID:30919572|PMID:32581362|PMID:37541188
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22606975|PMID:22693283|PMID:25741868|PMID:27742667|PMID:28492532|PMID:31160820|PMID:33970744|PMID:34866617
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:30295347|PMID:31130284
1582914	Kctd7	potassium channel tetramerization domain containing 7	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1314738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:22606975|PMID:22693283|PMID:25741868|PMID:27742667|PMID:28492532|PMID:31160820|PMID:33970744|PMID:34866617
1582917	Trnp1	TMF1-regulated nuclear protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582917	Trnp1	TMF1-regulated nuclear protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1601688	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1582917	Trnp1	TMF1-regulated nuclear protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1582935	Gypa	glycophorin A	gene	DOID:12365	malaria		ISO	RGD:1342753	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1582935	Gypa	glycophorin A	gene	DOID:12365	malaria		ISO	RGD:1342753	D	RGD:7240710	20230505	OMIM			
1582935	Gypa	glycophorin A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1582935	Gypa	glycophorin A	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1342753	D	RGD:11554173	20210209	CTD		CTD Direct Evidence: marker/mechanism	PMID:17029826
1582941	Borcs8	BLOC-1 related complex subunit 8	gene	DOID:9009261	NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES		ISO	RGD:5131351	D	RGD:7240710	20241120	OMIM			
1582956	Cd209c	CD209c molecule	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:1320216	D	RGD:5131184|PMID:20864747	20110422	RGD			
1582956	Cd209c	CD209c molecule	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:1320216	D	RGD:5131185|PMID:20050784	20110422	RGD			
1582956	Cd209c	CD209c molecule	gene	DOID:2841	asthma		ISO	RGD:1320216	D	RGD:5131188|PMID:21471959	20110422	RGD			
1582956	Cd209c	CD209c molecule	gene	DOID:399	tuberculosis		ISO	RGD:1320216	D	RGD:5131181|PMID:21454357	20110422	RGD			
1582956	Cd209c	CD209c molecule	gene	DOID:399	tuberculosis		ISO	RGD:1320216	D	RGD:5131186|PMID:18167547	20110422	RGD			
1582956	Cd209c	CD209c molecule	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1320216	D	RGD:5131187|PMID:17107989	20110422	RGD			
1582956	Cd209c	CD209c molecule	gene	DOID:9001488	Human Influenza	susceptibility	ISO	RGD:1320216	D	RGD:5131189|PMID:21191006	20110422	RGD			
1582968	Ccdc149	coiled-coil domain containing 149	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582968	Ccdc149	coiled-coil domain containing 149	gene	DOID:10534	stomach cancer		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1582968	Ccdc149	coiled-coil domain containing 149	gene	DOID:1115	sarcoma		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1582968	Ccdc149	coiled-coil domain containing 149	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1582968	Ccdc149	coiled-coil domain containing 149	gene	DOID:4362	cervical cancer		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1582968	Ccdc149	coiled-coil domain containing 149	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582968	Ccdc149	coiled-coil domain containing 149	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1582968	Ccdc149	coiled-coil domain containing 149	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1582968	Ccdc149	coiled-coil domain containing 149	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582968	Ccdc149	coiled-coil domain containing 149	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1582968	Ccdc149	coiled-coil domain containing 149	gene	DOID:9256	colorectal cancer		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:24726473|PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1345467	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0050840	cervical dystonia		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:24726473|PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0051019	visceral heterotaxy 4		ISO	RGD:1345467	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0060249	scoliosis		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:24726473|PMID:25741868|PMID:27974811|PMID:31680123
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1345467	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:20813920|PMID:24155313|PMID:24726473|PMID:25712306|PMID:25741868|PMID:27714920|PMID:27912047|PMID:30285720|PMID:30988732|PMID:31680123
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0111607	distal arthrogryposis type 3		ISO	RGD:1345467	D	RGD:7240710	20141015	OMIM			
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0111607	distal arthrogryposis type 3		ISO	RGD:1345467	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 3 | ClinVar Annotator: match by term: CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT | ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome	PMID:24726473|PMID:25741868|PMID:27653382|PMID:27843126|PMID:28492532|PMID:30988732
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0111608	distal arthrogryposis type 5		ISO	RGD:1345467	D	RGD:7240710	20141015	OMIM			
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:0111608	distal arthrogryposis type 5		ISO	RGD:1345467	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 5 | ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE IIB | ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities | ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	PMID:24726473|PMID:25741868|PMID:28492532|PMID:30988732|PMID:31589614|PMID:31680123|PMID:32901917|PMID:33422128
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:10348	blepharophimosis		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:24726473|PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:1059	intellectual disability		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:1115	sarcoma		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:11836	clubfoot		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:24726473|PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:1324	lung cancer		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:13620	patent foramen ovale		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1345467	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:2300	spondylolysis		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylolysis	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:423	myopathy		ISO	RGD:1345467	D	RGD:8554872	20200609	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:4702	mongolian spot		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:24726473|PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345467	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:5419	schizophrenia		ISO	RGD:1345467	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:630	genetic disease		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24726473|PMID:25741868|PMID:27653382|PMID:27843126|PMID:28492532|PMID:30988732|PMID:37813462|PMID:38843839
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:674	cleft palate		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:24726473|PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9000467	Marden-Walker Syndrome		ISO	RGD:1345467	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9000467	Marden-Walker Syndrome		ISO	RGD:1345467	D	RGD:7240710	20141015	OMIM			
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9000467	Marden-Walker Syndrome		ISO	RGD:1345467	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder Marden Walker type | ClinVar Annotator: match by term: Marden-Walker syndrome	PMID:24726473|PMID:25741868|PMID:28492532|PMID:30988732|PMID:31589614|PMID:33422128
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:24726473|PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9001581	Constipation		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1345467	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:24726473|PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9004979	Knee Dislocation		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Knee dislocation	PMID:28492532
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:24726473|PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9005963	Distal Arthrogryposis, with Impaired Proprioception and Touch		ISO	RGD:1345467	D	RGD:7240710	20190315	OMIM			
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9005963	Distal Arthrogryposis, with Impaired Proprioception and Touch		ISO	RGD:1345467	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH | ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch	PMID:1510371|PMID:17576681|PMID:1941966|PMID:24726473|PMID:25741868|PMID:27653382|PMID:27843126|PMID:28492532|PMID:30988732|PMID:37813462|PMID:38843839|PMID:9536098
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:24726473|PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24726473|PMID:25741868|PMID:27653382|PMID:27843126|PMID:28492532|PMID:38843839
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:24726473|PMID:25741868
1582973	Piezo2	piezo-type mechanosensitive ion channel component 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:1115	sarcoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:1324	lung cancer		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:1909	melanoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:3275	thymoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:4362	cervical cancer		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1321357	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1582992	Cmya5	cardiomyopathy associated 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1321357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1582994	Dcun1d2	defective in cullin neddylation 1 domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1582994	Dcun1d2	defective in cullin neddylation 1 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1582994	Dcun1d2	defective in cullin neddylation 1 domain containing 2	gene	DOID:9001254	Epidermolysis Bullosa Simplex 5D with Nail Dystrophy		ISO	RGD:1323358	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy	
1582994	Dcun1d2	defective in cullin neddylation 1 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1582994	Dcun1d2	defective in cullin neddylation 1 domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323358	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1582995	Mrps16	mitochondrial ribosomal protein S16	gene	DOID:0111483	combined oxidative phosphorylation deficiency 2		ISO	RGD:1321233	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1582995	Mrps16	mitochondrial ribosomal protein S16	gene	DOID:0111483	combined oxidative phosphorylation deficiency 2		ISO	RGD:1321233	D	RGD:7240710	20130221	OMIM			
1583002	Mtx3	metaxin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583002	Mtx3	metaxin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1601695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583002	Mtx3	metaxin 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1583002	Mtx3	metaxin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583002	Mtx3	metaxin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583004	Nme5	NME/NM23 family member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583004	Nme5	NME/NM23 family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583004	Nme5	NME/NM23 family member 5	gene	DOID:0060058	lymphoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1583004	Nme5	NME/NM23 family member 5	gene	DOID:0070761	primary ciliary dyskinesia 48		ISO	RGD:1343010	D	RGD:7240710	20220921	OMIM			
1583004	Nme5	NME/NM23 family member 5	gene	DOID:0070761	primary ciliary dyskinesia 48		ISO	RGD:1343010	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 48, without situs inversus	PMID:25741868
1583004	Nme5	NME/NM23 family member 5	gene	DOID:10908	hydrocephalus		ISS	RGD:1623132	D	RGD:13592920	20180518	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
1583004	Nme5	NME/NM23 family member 5	gene	DOID:1115	sarcoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583004	Nme5	NME/NM23 family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583004	Nme5	NME/NM23 family member 5	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1343010	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1583011	Stambpl1	STAM binding protein-like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583011	Stambpl1	STAM binding protein-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583011	Stambpl1	STAM binding protein-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583011	Stambpl1	STAM binding protein-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583011	Stambpl1	STAM binding protein-like 1	gene	DOID:1909	melanoma		ISO	RGD:1603015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583011	Stambpl1	STAM binding protein-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583011	Stambpl1	STAM binding protein-like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:0060290	Ohdo syndrome, SBBYS variant		ISO	RGD:1350438	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:0080833	laryngomalacia		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:0111456	Kaufman oculocerebrofacial syndrome		ISO	RGD:1350438	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	PMID:28003368
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:0111456	Kaufman oculocerebrofacial syndrome		ISO	RGD:1350438	D	RGD:7240710	20171011	OMIM			
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:0111456	Kaufman oculocerebrofacial syndrome		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: KAUFMAN OCULOCEREBROFACIAL SYNDROME | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type | ClinVar Annotator: match by term: UBE3B-related condition	PMID:17576681|PMID:23200864|PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:32249816|PMID:37938362|PMID:38177409|PMID:9536098
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:0111456	Kaufman oculocerebrofacial syndrome		ISS	RGD:1623028	D	RGD:13592920	20230718	MouseDO		OMIM:244450	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:10348	blepharophimosis		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:1059	intellectual disability		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:10629	microphthalmia		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:10907	microcephaly		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:10908	hydrocephalus		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hydrocephalus	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:10944	tongue disease		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microglossia	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:1115	sarcoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:12270	coloboma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:12959	lagophthalmos		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lagophthalmos	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:1324	lung cancer		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:1757	facial hemiatrophy		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hemiatrophy	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:1826	epilepsy		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:1909	melanoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:3275	thymoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1350438	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:630	genetic disease		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:83	cataract		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:8488	polyhydramnios		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9003133	Hypertelorism		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9005616	Micrognathism		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9007661	Dwarfism		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9008189	Pyelectasis		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1350438	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:38177409
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583074	Ube3b	ubiquitin protein ligase E3B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583076	Krtap10-1	keratin associated protein 10-1	gene	DOID:9263	homocystinuria		ISO	RGD:151837208	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency	PMID:10338090|PMID:12124992|PMID:28492532
1583091	Morn3	MORN repeat containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583091	Morn3	MORN repeat containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583091	Morn3	MORN repeat containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1603521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583091	Morn3	MORN repeat containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583091	Morn3	MORN repeat containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583091	Morn3	MORN repeat containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583091	Morn3	MORN repeat containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583112	Pradc1	protease-associated domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583112	Pradc1	protease-associated domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583112	Pradc1	protease-associated domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583112	Pradc1	protease-associated domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1352558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583112	Pradc1	protease-associated domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583112	Pradc1	protease-associated domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352558	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583112	Pradc1	protease-associated domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583112	Pradc1	protease-associated domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583177	Ifnar2	interferon alpha and beta receptor subunit 2	gene	DOID:0080600	COVID-19		ISO	RGD:1346107	D	RGD:11554173	20220405	CTD		CTD Direct Evidence: marker/mechanism	PMID:33307546
1583177	Ifnar2	interferon alpha and beta receptor subunit 2	gene	DOID:0111994	immunodeficiency 45	susceptibility	ISO	RGD:1346107	D	RGD:7240710	20260812	OMIM			
1583177	Ifnar2	interferon alpha and beta receptor subunit 2	gene	DOID:2043	hepatitis B		ISO	RGD:1346107	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1583177	Ifnar2	interferon alpha and beta receptor subunit 2	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:1346107	D	RGD:7240710	20260812	OMIM			
1583180	Trip6	thyroid hormone receptor interactor 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583180	Trip6	thyroid hormone receptor interactor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583180	Trip6	thyroid hormone receptor interactor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1353366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583180	Trip6	thyroid hormone receptor interactor 6	gene	DOID:1115	sarcoma		ISO	RGD:1353366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583180	Trip6	thyroid hormone receptor interactor 6	gene	DOID:1324	lung cancer		ISO	RGD:1353366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583180	Trip6	thyroid hormone receptor interactor 6	gene	DOID:1909	melanoma		ISO	RGD:1353366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583180	Trip6	thyroid hormone receptor interactor 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1583180	Trip6	thyroid hormone receptor interactor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583180	Trip6	thyroid hormone receptor interactor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583193	Ephb4	EPH receptor B4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583193	Ephb4	EPH receptor B4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583193	Ephb4	EPH receptor B4	gene	DOID:0070210	hereditary lymphedema IA		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary lymphedema type I	PMID:25741868
1583193	Ephb4	EPH receptor B4	gene	DOID:0070212	hereditary lymphedema I		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary lymphedema type I	PMID:25741868
1583193	Ephb4	EPH receptor B4	gene	DOID:0081030	central conducting lymphatic anomaly		ISO	RGD:1353692	D	RGD:7240710	20190315	OMIM			
1583193	Ephb4	EPH receptor B4	gene	DOID:0081030	central conducting lymphatic anomaly		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 7 | ClinVar Annotator: match by term: Lymphatic malformation 7	PMID:21348050|PMID:25741868|PMID:27400125|PMID:28492532|PMID:28687708|PMID:29444212|PMID:29905864|PMID:30578106|PMID:30760892|PMID:33864021
1583193	Ephb4	EPH receptor B4	gene	DOID:10316	pneumoconiosis		ISO	RGD:1353692	D	RGD:11554173	20230308	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
1583193	Ephb4	EPH receptor B4	gene	DOID:10534	stomach cancer		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583193	Ephb4	EPH receptor B4	gene	DOID:1059	intellectual disability		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:30578106
1583193	Ephb4	EPH receptor B4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
1583193	Ephb4	EPH receptor B4	gene	DOID:1115	sarcoma		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583193	Ephb4	EPH receptor B4	gene	DOID:11294	arteriovenous malformation		ISO	RGD:1353692	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Arteriovenous malformation	PMID:25741868|PMID:28687708|PMID:30578106|PMID:30760892
1583193	Ephb4	EPH receptor B4	gene	DOID:12849	autistic disorder		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:30578106
1583193	Ephb4	EPH receptor B4	gene	DOID:1324	lung cancer		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583193	Ephb4	EPH receptor B4	gene	DOID:1588	thrombocytopenia		ISO	RGD:1353692	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532|PMID:28687708|PMID:36813543|PMID:38353959
1583193	Ephb4	EPH receptor B4	gene	DOID:162	cancer		ISO	RGD:1353692	D	RGD:8554872	20210209	ClinVar		ClinVar Annotator: match by term: cancer	
1583193	Ephb4	EPH receptor B4	gene	DOID:264	hemangiopericytoma		ISO	RGD:1353692	D	RGD:155663351|PMID:26951238	20221110	RGD		mRNA,protein:decreased expression:anterior temporal lobe	
1583193	Ephb4	EPH receptor B4	gene	DOID:2975	cystic kidney disease		ISS	RGD:1617630	D	RGD:13592920	20180518	MouseDO			
1583193	Ephb4	EPH receptor B4	gene	DOID:3275	thymoma		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583193	Ephb4	EPH receptor B4	gene	DOID:3748	esophagus squamous cell carcinoma	exacerbates	ISO	RGD:1353692	D	RGD:153300949|PMID:31885720	20220808	RGD		mRNA,protein:increased expression:esophagus squamous epithelium (human)	
1583193	Ephb4	EPH receptor B4	gene	DOID:4362	cervical cancer		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1583193	Ephb4	EPH receptor B4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1583193	Ephb4	EPH receptor B4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1583193	Ephb4	EPH receptor B4	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1353692	D	RGD:8554872	20170111	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:19597493|PMID:27760138
1583193	Ephb4	EPH receptor B4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583193	Ephb4	EPH receptor B4	gene	DOID:9000970	Focal Nodular Hyperplasia		ISO	RGD:1353692	D	RGD:155646133|PMID:23870033	20221108	RGD		mRNA:decreased expression:liver	
1583193	Ephb4	EPH receptor B4	gene	DOID:9002315	Kidney Calculi		ISO	RGD:1353692	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kidney stone	PMID:25741868|PMID:28492532|PMID:28687708|PMID:36813543|PMID:38353959
1583193	Ephb4	EPH receptor B4	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:30578106
1583193	Ephb4	EPH receptor B4	gene	DOID:9002861	Capillary Malformation-Arteriovenous Malformation 2		ISO	RGD:1353692	D	RGD:7240710	20190315	OMIM			
1583193	Ephb4	EPH receptor B4	gene	DOID:9002861	Capillary Malformation-Arteriovenous Malformation 2		ISO	RGD:1353692	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 | ClinVar Annotator: match by term: EPHB4-related condition | ClinVar Annotator: match by term: EPHB4-related disorders	PMID:16199547|PMID:17576681|PMID:21348050|PMID:25741868|PMID:27400125|PMID:28492532|PMID:28687708|PMID:28730721|PMID:29444212|PMID:29905864|PMID:29928781|PMID:30578106|PMID:30760892|PMID:30819650|PMID:32267001|PMID:33240318|PMID:36813543|PMID:38353959|PMID:9536098
1583193	Ephb4	EPH receptor B4	gene	DOID:9002909	Oxygen-Induced Retinopathy	treatment	IEP		D	RGD:155663663|PMID:26670826	20221201	RGD			
1583193	Ephb4	EPH receptor B4	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intracranial hemorrhage	PMID:25741868
1583193	Ephb4	EPH receptor B4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1583193	Ephb4	EPH receptor B4	gene	DOID:9005469	Capillary Malformation-Arteriovenous Malformation		ISO	RGD:1353692	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome	PMID:25741868
1583193	Ephb4	EPH receptor B4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583193	Ephb4	EPH receptor B4	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1353692	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:25741868
1583193	Ephb4	EPH receptor B4	gene	DOID:9008421	Epistaxis		ISO	RGD:1353692	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:28492532|PMID:28687708|PMID:36813543|PMID:38353959
1583193	Ephb4	EPH receptor B4	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:30578106
1583193	Ephb4	EPH receptor B4	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353692	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23063927
1583193	Ephb4	EPH receptor B4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1583193	Ephb4	EPH receptor B4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583204	Meiob	meiosis specific with OB-fold	gene	DOID:0070177	spermatogenic failure 22		ISO	RGD:1604193	D	RGD:7240710	20190315	OMIM			
1583204	Meiob	meiosis specific with OB-fold	gene	DOID:0070177	spermatogenic failure 22		ISO	RGD:1604193	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 22 | ClinVar Annotator: match by term: Spermatogenic failure 22	
1583204	Meiob	meiosis specific with OB-fold	gene	DOID:10534	stomach cancer		ISO	RGD:1604193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583204	Meiob	meiosis specific with OB-fold	gene	DOID:4362	cervical cancer		ISO	RGD:1604193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583204	Meiob	meiosis specific with OB-fold	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583204	Meiob	meiosis specific with OB-fold	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583204	Meiob	meiosis specific with OB-fold	gene	DOID:9007561	Premature Ovarian Failure 23		ISO	RGD:1604193	D	RGD:7240710	20240131	OMIM			
1583204	Meiob	meiosis specific with OB-fold	gene	DOID:9007561	Premature Ovarian Failure 23		ISO	RGD:1604193	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEIOB-related condition | ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 23 | ClinVar Annotator: match by term: Premature ovarian failure 23	PMID:25741868|PMID:28492532|PMID:30838384
1583215	She	Src homology 2 domain containing E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583215	She	Src homology 2 domain containing E	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1583215	She	Src homology 2 domain containing E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583215	She	Src homology 2 domain containing E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583215	She	Src homology 2 domain containing E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583215	She	Src homology 2 domain containing E	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583221	Zfp318	zinc finger protein 318	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583221	Zfp318	zinc finger protein 318	gene	DOID:1115	sarcoma		ISO	RGD:1318587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583221	Zfp318	zinc finger protein 318	gene	DOID:3070	high grade glioma		ISO	RGD:1318587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1583221	Zfp318	zinc finger protein 318	gene	DOID:3275	thymoma		ISO	RGD:1318587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583221	Zfp318	zinc finger protein 318	gene	DOID:4362	cervical cancer		ISO	RGD:1318587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583221	Zfp318	zinc finger protein 318	gene	DOID:5041	esophageal cancer		ISO	RGD:1318587	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583221	Zfp318	zinc finger protein 318	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583221	Zfp318	zinc finger protein 318	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583224	Sys1	Sys1 golgi trafficking protein	gene	DOID:2377	multiple sclerosis		ISO	RGD:1602841	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:3275	thymoma		ISO	RGD:1316099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316099	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:630	genetic disease		ISO	RGD:1316099	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:9003945	Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities		ISO	RGD:1316099	D	RGD:7240710	20230125	OMIM			
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:9003945	Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities		ISO	RGD:1316099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities	PMID:25741868|PMID:28492532|PMID:33979636
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583226	Pgm2l1	phosphoglucomutase 2-like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583230	Rarg	retinoic acid receptor, gamma	gene	DOID:0060673	Peters anomaly		ISO	RGD:735465	D	RGD:8554872	20170221	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:26893459
1583230	Rarg	retinoic acid receptor, gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583230	Rarg	retinoic acid receptor, gamma	gene	DOID:1115	sarcoma		ISO	RGD:735465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583230	Rarg	retinoic acid receptor, gamma	gene	DOID:114	heart disease		ISO	RGD:735465	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26237429
1583230	Rarg	retinoic acid receptor, gamma	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1583230	Rarg	retinoic acid receptor, gamma	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1583230	Rarg	retinoic acid receptor, gamma	gene	DOID:4362	cervical cancer		ISO	RGD:735465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583230	Rarg	retinoic acid receptor, gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583230	Rarg	retinoic acid receptor, gamma	gene	DOID:674	cleft palate		ISO	RGD:735465	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21807577
1583230	Rarg	retinoic acid receptor, gamma	gene	DOID:9001138	Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract		ISO	RGD:735465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epithelial squamous dysplasia, keratinizing desquamative, of urinary tract	
1583230	Rarg	retinoic acid receptor, gamma	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:735465	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26237429
1583230	Rarg	retinoic acid receptor, gamma	gene	DOID:9005004	Musculoskeletal Abnormalities		ISO	RGD:735465	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:9142499
1583230	Rarg	retinoic acid receptor, gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583235	Gbp7	guanylate binding protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583235	Gbp7	guanylate binding protein 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583235	Gbp7	guanylate binding protein 7	gene	DOID:1324	lung cancer		ISO	RGD:1601687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583235	Gbp7	guanylate binding protein 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1583235	Gbp7	guanylate binding protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583235	Gbp7	guanylate binding protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583243	Msrb1	methionine sulfoxide reductase B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583243	Msrb1	methionine sulfoxide reductase B1	gene	DOID:1324	lung cancer		ISO	RGD:1312916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583243	Msrb1	methionine sulfoxide reductase B1	gene	DOID:1909	melanoma		ISO	RGD:1312916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583243	Msrb1	methionine sulfoxide reductase B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583255	Erich4	glutamate-rich 4	gene	DOID:3275	thymoma		ISO	RGD:2299179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583256	Abracl	ABRA C-terminal like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583256	Abracl	ABRA C-terminal like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1583256	Abracl	ABRA C-terminal like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1583270	Anapc13	anaphase promoting complex subunit 13	gene	DOID:1324	lung cancer		ISO	RGD:1346286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583270	Anapc13	anaphase promoting complex subunit 13	gene	DOID:3275	thymoma		ISO	RGD:1346286	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583270	Anapc13	anaphase promoting complex subunit 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583288	Rnf169	ring finger protein 169	gene	DOID:1115	sarcoma		ISO	RGD:1602283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583288	Rnf169	ring finger protein 169	gene	DOID:5041	esophageal cancer		ISO	RGD:1602283	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583288	Rnf169	ring finger protein 169	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583288	Rnf169	ring finger protein 169	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583290	Unc93a	unc-93 homolog A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1583290	Unc93a	unc-93 homolog A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1583290	Unc93a	unc-93 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583290	Unc93a	unc-93 homolog A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583296	Cnpy1	canopy FGF signaling regulator 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1603862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1583296	Cnpy1	canopy FGF signaling regulator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1583309	Fscn1	fascin actin-bundling protein 1	gene	DOID:1793	pancreatic cancer	severity	ISO	RGD:1344433	D	RGD:2317785|PMID:17696949	20100423	RGD		protein:increased expression:pancreas	
1583309	Fscn1	fascin actin-bundling protein 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1344433	D	RGD:11554173	20240604	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1583309	Fscn1	fascin actin-bundling protein 1	gene	DOID:3275	thymoma		ISO	RGD:1344433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583309	Fscn1	fascin actin-bundling protein 1	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:1344433	D	RGD:2317790|PMID:12109856	20100423	RGD		protein:increased expression:pancreas	
1583309	Fscn1	fascin actin-bundling protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583309	Fscn1	fascin actin-bundling protein 1	gene	DOID:4608	common bile duct neoplasm		ISO	RGD:1344433	D	RGD:2317789|PMID:15136764	20100423	RGD		mRNA, protein:increased expression: :	
1583309	Fscn1	fascin actin-bundling protein 1	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1344433	D	RGD:2317780|PMID:19721413	20100423	RGD		protein:increased expression:bile ducts	
1583309	Fscn1	fascin actin-bundling protein 1	gene	DOID:9000011	Gallbladder Neoplasms	severity	ISO	RGD:1344433	D	RGD:2317784|PMID:19259612	20100423	RGD			
1583309	Fscn1	fascin actin-bundling protein 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1344433	D	RGD:2317788|PMID:15626919	20100423	RGD		associated with Pancreatic Neoplasms	
1583309	Fscn1	fascin actin-bundling protein 1	gene	DOID:9002936	Bile Duct Neoplasms	disease_progression	ISO	RGD:1344433	D	RGD:2317786|PMID:17419223	20100423	RGD		protein:increased expression:bile duct	
1583309	Fscn1	fascin actin-bundling protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583370	Cep43	centrosomal protein 43	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583370	Cep43	centrosomal protein 43	gene	DOID:10534	stomach cancer		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583370	Cep43	centrosomal protein 43	gene	DOID:1324	lung cancer		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583370	Cep43	centrosomal protein 43	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1583370	Cep43	centrosomal protein 43	gene	DOID:2394	ovarian cancer		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1583370	Cep43	centrosomal protein 43	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313011	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1583370	Cep43	centrosomal protein 43	gene	DOID:4362	cervical cancer		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583370	Cep43	centrosomal protein 43	gene	DOID:5041	esophageal cancer		ISO	RGD:1313011	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583370	Cep43	centrosomal protein 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583370	Cep43	centrosomal protein 43	gene	DOID:6039	uveal melanoma		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1583370	Cep43	centrosomal protein 43	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583370	Cep43	centrosomal protein 43	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1583370	Cep43	centrosomal protein 43	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583370	Cep43	centrosomal protein 43	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583370	Cep43	centrosomal protein 43	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583372	Krt79	keratin 79	gene	DOID:1909	melanoma		ISO	RGD:1602275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583372	Krt79	keratin 79	gene	DOID:5041	esophageal cancer		ISO	RGD:1602275	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583372	Krt79	keratin 79	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583372	Krt79	keratin 79	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583372	Krt79	keratin 79	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583379	Gal3st1	galactose-3-O-sulfotransferase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1350287	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1583379	Gal3st1	galactose-3-O-sulfotransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343523	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:0060058	lymphoma		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:0060249	scoliosis		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:0080706	medulloblastoma non-WNT/non-SHH		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH	PMID:24651015|PMID:27993330|PMID:28726821|PMID:33741928
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:1059	intellectual disability		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:10892	hypospadias		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868|PMID:28492532
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:10907	microcephaly		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:1115	sarcoma		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:12849	autistic disorder		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:1324	lung cancer		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:1612	breast cancer	severity	ISO	RGD:1343523	D	RGD:9586731|PMID:23266085	20141003	RGD		mRNA:decreased expression:breast (human)	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:1657	ventricular septal defect		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:1826	epilepsy		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rare genetic epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28492532
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1343523	D	RGD:9586737|PMID:18975135	20141003	RGD		DNA:amplification:lung, peripheral blood mononuclear cell (human)	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:4362	cervical cancer		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1343523	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:540	strabismus		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:630	genetic disease		ISO	RGD:1343523	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30929739
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343523	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9000659	Heavy Metal Toxicity		ISO	RGD:1343523	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: therapeutic	PMID:21262293
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9001031	Retrognathia		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:28492532
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9003591	Telecanthus		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343523	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9005372	Inflammation		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: chronic inflammation	PMID:25741868
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9005801	Diets-Jongmans Syndrome		ISO	RGD:1343523	D	RGD:7240710	20200624	OMIM			
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9005801	Diets-Jongmans Syndrome		ISO	RGD:1343523	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DIETS-JONGMANS SYNDROME | ClinVar Annotator: match by term: Diets-Jongmans syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DISTINCTIVE FACIAL DYSMORPHISM | ClinVar Annotator: match by term: KDM3B-related condition	PMID:25741868|PMID:28492532|PMID:30885698|PMID:30929739
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:25741868
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9007661	Dwarfism		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9008582	Developmental Disease		ISO	RGD:1343523	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1343523	D	RGD:9586735|PMID:22345654	20141003	RGD		protein:decreased expression:colon mucosa (human)	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1343523	D	RGD:9586728|PMID:22615488	20141003	RGD		protein:increased expression:bone marrow, mononuclear cell (human)	
1583423	Kdm3b	lysine demethylase 3B	gene	DOID:9970	obesity		ISO	RGD:1343523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
1583435	Txlna	taxilin alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583435	Txlna	taxilin alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583435	Txlna	taxilin alpha	gene	DOID:0060058	lymphoma		ISO	RGD:1603882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1583435	Txlna	taxilin alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1603882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583435	Txlna	taxilin alpha	gene	DOID:1115	sarcoma		ISO	RGD:1603882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583435	Txlna	taxilin alpha	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1583435	Txlna	taxilin alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1603882	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583435	Txlna	taxilin alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583435	Txlna	taxilin alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583435	Txlna	taxilin alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583447	Ccdc28b	coiled coil domain containing 28B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583447	Ccdc28b	coiled coil domain containing 28B	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1603961	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868|PMID:29127258
1583447	Ccdc28b	coiled coil domain containing 28B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583447	Ccdc28b	coiled coil domain containing 28B	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1603961	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1583447	Ccdc28b	coiled coil domain containing 28B	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1603961	D	RGD:7240710	20170726	OMIM			
1583447	Ccdc28b	coiled coil domain containing 28B	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1603961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 1	PMID:25741868
1583447	Ccdc28b	coiled coil domain containing 28B	gene	DOID:10534	stomach cancer		ISO	RGD:1603961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583447	Ccdc28b	coiled coil domain containing 28B	gene	DOID:1324	lung cancer		ISO	RGD:1603961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583447	Ccdc28b	coiled coil domain containing 28B	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1603961	D	RGD:9685059|PMID:16327777	20141216	RGD		DNA:mutation:exon:430C>T(human)	
1583447	Ccdc28b	coiled coil domain containing 28B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1583447	Ccdc28b	coiled coil domain containing 28B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583447	Ccdc28b	coiled coil domain containing 28B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583447	Ccdc28b	coiled coil domain containing 28B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1583461	Iqcc	IQ motif containing C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583461	Iqcc	IQ motif containing C	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1343946	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1583461	Iqcc	IQ motif containing C	gene	DOID:1324	lung cancer		ISO	RGD:1343946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583461	Iqcc	IQ motif containing C	gene	DOID:1909	melanoma		ISO	RGD:1343946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583461	Iqcc	IQ motif containing C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343946	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1583461	Iqcc	IQ motif containing C	gene	DOID:5041	esophageal cancer		ISO	RGD:1343946	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583461	Iqcc	IQ motif containing C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583461	Iqcc	IQ motif containing C	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1583461	Iqcc	IQ motif containing C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583476	Dcdc2b	doublecortin domain containing 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1604739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583476	Dcdc2b	doublecortin domain containing 2B	gene	DOID:1909	melanoma		ISO	RGD:1604739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583476	Dcdc2b	doublecortin domain containing 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604739	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583476	Dcdc2b	doublecortin domain containing 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583487	Tmem234	transmembrane protein 234	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583487	Tmem234	transmembrane protein 234	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583487	Tmem234	transmembrane protein 234	gene	DOID:1909	melanoma		ISO	RGD:1606787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583487	Tmem234	transmembrane protein 234	gene	DOID:4362	cervical cancer		ISO	RGD:1606787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583497	Lypd4	Ly6/Plaur domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1602183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583497	Lypd4	Ly6/Plaur domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583501	Kcne5	potassium voltage-gated channel subfamily E regulatory subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1345038	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:25741868|PMID:28492532|PMID:30847666
1583501	Kcne5	potassium voltage-gated channel subfamily E regulatory subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1345038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:18313602|PMID:24144883|PMID:25741868|PMID:28492532|PMID:33950154
1583506	Cenph	centromere protein H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583506	Cenph	centromere protein H	gene	DOID:1115	sarcoma		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583506	Cenph	centromere protein H	gene	DOID:1324	lung cancer		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583506	Cenph	centromere protein H	gene	DOID:1909	melanoma		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583506	Cenph	centromere protein H	gene	DOID:2394	ovarian cancer		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1583506	Cenph	centromere protein H	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1583506	Cenph	centromere protein H	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1583506	Cenph	centromere protein H	gene	DOID:5041	esophageal cancer		ISO	RGD:1312617	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583506	Cenph	centromere protein H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583506	Cenph	centromere protein H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583506	Cenph	centromere protein H	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1312617	D	RGD:8554872	20200811	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	
1583506	Cenph	centromere protein H	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583513	Pcgf5	polycomb group ring finger 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583513	Pcgf5	polycomb group ring finger 5	gene	DOID:0080600	COVID-19		ISO	RGD:1351153	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1583513	Pcgf5	polycomb group ring finger 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1583513	Pcgf5	polycomb group ring finger 5	gene	DOID:3070	high grade glioma		ISO	RGD:1351153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1583513	Pcgf5	polycomb group ring finger 5	gene	DOID:3275	thymoma		ISO	RGD:1351153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583513	Pcgf5	polycomb group ring finger 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1583513	Pcgf5	polycomb group ring finger 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1351153	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583513	Pcgf5	polycomb group ring finger 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583513	Pcgf5	polycomb group ring finger 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583513	Pcgf5	polycomb group ring finger 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583513	Pcgf5	polycomb group ring finger 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583530	Alkal1	ALK and LTK ligand 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604440	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583530	Alkal1	ALK and LTK ligand 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583546	Il19	interleukin 19	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:127303445|RGD:127303452|RGD:13500487|RGD:15142489	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease	PMID:25741868|PMID:28492532
1583546	Il19	interleukin 19	gene	DOID:10534	stomach cancer		ISO	RGD:1315107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583546	Il19	interleukin 19	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1315108|RGD:1315107	D	RGD:5037232|PMID:18246602	20110303	RGD			
1583546	Il19	interleukin 19	gene	DOID:2841	asthma		ISO	RGD:1315108|RGD:1315107	D	RGD:5037236|PMID:15557163	20110303	RGD		protein:increased expression:serum	
1583546	Il19	interleukin 19	gene	DOID:3388	periodontal disease		IEP		D	RGD:5024938|PMID:20618701	20110303	RGD		mRNA:increased expression:B cell	
1583546	Il19	interleukin 19	gene	DOID:784	chronic kidney disease		ISO	RGD:1315107	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24714768
1583546	Il19	interleukin 19	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1315107	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18006695
1583546	Il19	interleukin 19	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1315107	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430480
1583566	Dnase1l2	deoxyribonuclease 1 like 2	gene	DOID:1115	sarcoma		ISO	RGD:1318821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583566	Dnase1l2	deoxyribonuclease 1 like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583566	Dnase1l2	deoxyribonuclease 1 like 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318821	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1583567	Tomm6	translocase of outer mitochondrial membrane 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2300132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583567	Tomm6	translocase of outer mitochondrial membrane 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2300132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583578	Il20	interleukin 20	gene	DOID:3021	acute kidney failure		ISO	RGD:1353403	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18496552
1583578	Il20	interleukin 20	gene	DOID:4362	cervical cancer		ISO	RGD:1353403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583578	Il20	interleukin 20	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1353403	D	RGD:5147395|PMID:16947773	20110803	RGD			
1583578	Il20	interleukin 20	gene	DOID:783	end stage renal disease		IEP		D	RGD:5147394|PMID:18639518	20110803	RGD		protein:increased expression:multiple organs	
1583578	Il20	interleukin 20	gene	DOID:8893	psoriasis		ISO	RGD:1353403	D	RGD:5147391|PMID:21109726	20110803	RGD		associated with Respiratory Tract Infections;DNA:SNP:enhancer:-1723C>G (rs1713239) (human)	
1583578	Il20	interleukin 20	gene	DOID:9002457	Experimental Arthritis		IMP		D	RGD:5147393|PMID:20722035	20110803	RGD			
1583578	Il20	interleukin 20	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1353403	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430480
1583592	Zmat2	zinc finger, matrin type 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583592	Zmat2	zinc finger, matrin type 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583592	Zmat2	zinc finger, matrin type 2	gene	DOID:1324	lung cancer		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583592	Zmat2	zinc finger, matrin type 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1583592	Zmat2	zinc finger, matrin type 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1583592	Zmat2	zinc finger, matrin type 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583592	Zmat2	zinc finger, matrin type 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583592	Zmat2	zinc finger, matrin type 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583600	Gpkow	G patch domain and KOW motifs	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583600	Gpkow	G patch domain and KOW motifs	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583600	Gpkow	G patch domain and KOW motifs	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583600	Gpkow	G patch domain and KOW motifs	gene	DOID:9000284	X-linked Microhydranencephaly		ISO	RGD:1343451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly-hypokinesia-congenital contractures syndrome	PMID:25741868
1583600	Gpkow	G patch domain and KOW motifs	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1343451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1583600	Gpkow	G patch domain and KOW motifs	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583600	Gpkow	G patch domain and KOW motifs	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583615	Magel2	MAGE family member L2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:0060249	scoliosis		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:0060260	ptosis		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:0080833	laryngomalacia		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:27195816|PMID:29581464
1583615	Magel2	MAGE family member L2	gene	DOID:0111428	essential tremor 1		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:28492532
1583615	Magel2	MAGE family member L2	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:0111715	Schaaf-Yang syndrome		ISO	RGD:1320098	D	RGD:7240710	20140911	OMIM			
1583615	Magel2	MAGE family member L2	gene	DOID:0111715	Schaaf-Yang syndrome		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHITAYAT-HALL SYNDROME | ClinVar Annotator: match by term: MAGEL2-related Prader-Willi-like syndrome | ClinVar Annotator: match by term: MAGEL2-related condition | ClinVar Annotator: match by term: Prader-Willi-like syndrome | ClinVar Annotator: match by term: SCHAAF-YANG SYNDROME | ClinVar Annotator: match by term: Schaaf-Yang syndrome	PMID:24076603|PMID:24088041|PMID:25473036|PMID:25590979|PMID:25741868|PMID:26365340|PMID:26633545|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29359444|PMID:29599419|PMID:30302899|PMID:31152388|PMID:31397880|PMID:31791363|PMID:32021601|PMID:32702813|PMID:33076953|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:10376	amblyopia		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:27195816|PMID:30323850
1583615	Magel2	MAGE family member L2	gene	DOID:1059	intellectual disability		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532
1583615	Magel2	MAGE family member L2	gene	DOID:1059	intellectual disability		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:10629	microphthalmia		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:10908	hydrocephalus		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:24076603|PMID:25473036|PMID:25741868|PMID:26365340|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31152388|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:11111	hydronephrosis		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:11383	cryptorchidism		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:30323850|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:1143	exotropia		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:30323850|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:11782	astigmatism		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:27195816|PMID:30323850
1583615	Magel2	MAGE family member L2	gene	DOID:11830	myopia		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:11836	clubfoot		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus | ClinVar Annotator: match by term: Clubfoot	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:11983	Prader-Willi syndrome		ISO	RGD:1320098	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24076603
1583615	Magel2	MAGE family member L2	gene	DOID:11983	Prader-Willi syndrome		ISO	RGD:1320098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Prader-Willi syndrome	PMID:25741868|PMID:27195816|PMID:28492532
1583615	Magel2	MAGE family member L2	gene	DOID:11983	Prader-Willi syndrome		ISS	RGD:1320099	D	RGD:13592920	20230718	MouseDO		OMIM:176270	
1583615	Magel2	MAGE family member L2	gene	DOID:12215	oligohydramnios		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:12388	neurohypophyseal diabetes insipidus		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurohypophyseal diabetes insipidus	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:12849	autistic disorder		ISO	RGD:1320098	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24076603
1583615	Magel2	MAGE family member L2	gene	DOID:12849	autistic disorder		ISO	RGD:1320098	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 15 | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome	PMID:21681106|PMID:25741868|PMID:28492532|PMID:30208311|PMID:31690835
1583615	Magel2	MAGE family member L2	gene	DOID:12849	autistic disorder		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:13620	patent foramen ovale		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1320098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868|PMID:27195816
1583615	Magel2	MAGE family member L2	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Large fontanelles	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:14159	obstructive hydrocephalus		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Noncommunicating hydrocephalus	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:1459	hypothyroidism		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:1588	thrombocytopenia		ISO	RGD:1320098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:27195816
1583615	Magel2	MAGE family member L2	gene	DOID:1826	epilepsy		ISO	RGD:1320098	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:28492532
1583615	Magel2	MAGE family member L2	gene	DOID:1826	epilepsy		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1320098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:27195816
1583615	Magel2	MAGE family member L2	gene	DOID:1923	disorder of sexual development		ISO	RGD:1320098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:24076603|PMID:25741868|PMID:26365340|PMID:27195816|PMID:28492532|PMID:31152388
1583615	Magel2	MAGE family member L2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
1583615	Magel2	MAGE family member L2	gene	DOID:2340	craniosynostosis		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Metopic synostosis	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:2355	anemia		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	
1583615	Magel2	MAGE family member L2	gene	DOID:2841	asthma		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1583615	Magel2	MAGE family member L2	gene	DOID:4189	mutism		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	
1583615	Magel2	MAGE family member L2	gene	DOID:540	strabismus		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:630	genetic disease		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27195816|PMID:28281571|PMID:28492532|PMID:30302899|PMID:30323850|PMID:38908375
1583615	Magel2	MAGE family member L2	gene	DOID:630	genetic disease		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:30323850|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374|PMID:38908375
1583615	Magel2	MAGE family member L2	gene	DOID:8488	polyhydramnios		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:850	lung disease		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9000343	Vision Disorders		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9001031	Retrognathia		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:30323850|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1583615	Magel2	MAGE family member L2	gene	DOID:9001443	Hypercapnia		ISO	RGD:1320098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypercapnia	PMID:25741868|PMID:27195816
1583615	Magel2	MAGE family member L2	gene	DOID:9001510	Funnel Chest		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9001934	Neonatal Sepsis		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal sepsis	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9002916	Hyperphagia		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:25741868
1583615	Magel2	MAGE family member L2	gene	DOID:9002997	Glossoptosis		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glossoptosis	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:27195816|PMID:30323850
1583615	Magel2	MAGE family member L2	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1320098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868|PMID:27195816|PMID:30323850
1583615	Magel2	MAGE family member L2	gene	DOID:9003507	Premature Birth		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1583615	Magel2	MAGE family member L2	gene	DOID:9003954	Respiratory Acidosis		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Respiratory acidosis	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARHGEF6-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
1583615	Magel2	MAGE family member L2	gene	DOID:9005077	Joint Instability		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9005253	Hypernatremia		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypernatremia	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:27195816|PMID:30323850
1583615	Magel2	MAGE family member L2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24076603|PMID:25741868|PMID:26365340|PMID:27195816|PMID:28281571|PMID:28492532|PMID:30302899|PMID:30323850|PMID:31152388|PMID:31680349
1583615	Magel2	MAGE family member L2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:24076603|PMID:25473036|PMID:25741868|PMID:26365340|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:30323850|PMID:31152388|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9005616	Micrognathism		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1320098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868|PMID:27195816
1583615	Magel2	MAGE family member L2	gene	DOID:9007001	Bradycardia		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:25741868
1583615	Magel2	MAGE family member L2	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9007573	Flatfoot		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9007661	Dwarfism		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature	
1583615	Magel2	MAGE family member L2	gene	DOID:9007661	Dwarfism		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9007817	Macroglossia		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	
1583615	Magel2	MAGE family member L2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:30323850|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1320098	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868|PMID:30302899
1583615	Magel2	MAGE family member L2	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:27195816|PMID:30323850
1583615	Magel2	MAGE family member L2	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:24076603|PMID:25473036|PMID:25741868|PMID:26365340|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31152388|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9220	central sleep apnea		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Central apnea	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9406	hypopituitarism		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypopituitarism	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9409	diabetes insipidus		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9410	combined pituitary hormone deficiency		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Panhypopituitarism	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:30323850|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9834	hyperopia		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:27195816|PMID:30323850
1583615	Magel2	MAGE family member L2	gene	DOID:9840	esotropia		ISO	RGD:1320098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:30302899|PMID:31397880|PMID:32021601|PMID:32702813|PMID:33371171|PMID:36836222|PMID:37404980|PMID:37533374
1583615	Magel2	MAGE family member L2	gene	DOID:9970	obesity		ISO	RGD:1320098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1317786	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:10283	prostate cancer		ISO	RGD:1317786	D	RGD:13506825|PMID:24961829	20180220	RGD		DNA:SNP: :rs7903146 (human)	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1317786	D	RGD:13506821|PMID:25678841	20180220	RGD		DNA:SNPs: :rs7094463, rs10749127, rs11196224 (human)	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:1059	intellectual disability		ISO	RGD:1317786	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: TCF7L2-related Intellectual disability	PMID:25741868
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:1115	sarcoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:11714	gestational diabetes	susceptibility	ISO	RGD:1317786	D	RGD:2312455|PMID:18984664	20090818	RGD		DNA:SNP (human)	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:12849	autistic disorder		ISO	RGD:1317786	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:34003604
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317786	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:1324	lung cancer		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1317786	D	RGD:152599188|PMID:24338422	20220524	RGD		DNA:SNP: :rs7003146(human)	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1317786	D	RGD:5490966|PMID:18772397	20140724	RGD		DNA:mutations:exon	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:299	adenocarcinoma		ISO	RGD:1317786	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21892161
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:3275	thymoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317786	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:630	genetic disease		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:34003604
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1317786	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9000528	Coronary Disease		ISO	RGD:1317786	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1317786	D	RGD:6906926|PMID:19506043	20090813	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP (human)	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1317786	D	RGD:11554173	20220111	CTD		CTD Direct Evidence: marker/mechanism	PMID:33607128
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9002221	Hyperplasia		ISO	RGD:1317786	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21383188
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1317786	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21383188
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317786	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317786	D	RGD:8554872	20220104	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317786	D	RGD:11554173	20180828	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1317786	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1317786	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:1317786	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1317786	D	RGD:2312433|PMID:19509102	20090813	RGD		DNA:SNP (human)	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1317786	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21892161|PMID:24836286
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1317786	D	RGD:13450926|PMID:25617745	20171109	RGD		DNA:mutations:multiple (human)	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:1317786	D	RGD:2312417|PMID:19585101	20090812	RGD		associated with Cystic Fibrosis;DNA:SNP (human)	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9352	type 2 diabetes mellitus		IEP		D	RGD:1599258|PMID:16772326	20250819	RGD		associated with ZDF-Leprfa/Crl strain; mRNA:altered expression:pancreatic islet	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9352	type 2 diabetes mellitus		IEP		D	RGD:2312454|PMID:19386626	20090818	RGD			
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317786	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:17460697|PMID:23104008|PMID:28869590
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317786	D	RGD:2312433|PMID:19509102	20090813	RGD		DNA:SNP (human)	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317786	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TCF7L2-related condition | ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II Diabetes Mellitus	PMID:25741868|PMID:28492532|PMID:35101336
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1317786	D	RGD:2312453|PMID:19482368	20090818	RGD		DNA:SNPs: :multiple (human)	
1583621	Tcf7l2	transcription factor 7 like 2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1317786	D	RGD:7240710	20230505	OMIM			
1583644	Shc4	SHC adaptor protein 4	gene	DOID:1909	melanoma		ISO	RGD:1602620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583644	Shc4	SHC adaptor protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1602620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583644	Shc4	SHC adaptor protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583648	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583648	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:1115	sarcoma		ISO	RGD:1321748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583648	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:1324	lung cancer		ISO	RGD:1321748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583648	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:3305	teratocarcinoma		IAGP		D	RGD:40924659|PMID:22655094	20210826	RGD		compared to WKY	
1583648	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1583648	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583648	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583648	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583648	Dnd1	DND microRNA-mediated repression inhibitor 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321748	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
1583652	Adam12	ADAM metallopeptidase domain 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583652	Adam12	ADAM metallopeptidase domain 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583652	Adam12	ADAM metallopeptidase domain 12	gene	DOID:1909	melanoma		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583652	Adam12	ADAM metallopeptidase domain 12	gene	DOID:4362	cervical cancer		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583652	Adam12	ADAM metallopeptidase domain 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1583652	Adam12	ADAM metallopeptidase domain 12	gene	DOID:5199	ureteral obstruction		ISO	RGD:1317266	D	RGD:13703030|PMID:24103556	20180726	RGD			
1583652	Adam12	ADAM metallopeptidase domain 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583652	Adam12	ADAM metallopeptidase domain 12	gene	DOID:8398	osteoarthritis	susceptibility	ISO	RGD:1317265	D	RGD:1625347|PMID:15334463	20080514	RGD			
1583652	Adam12	ADAM metallopeptidase domain 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583652	Adam12	ADAM metallopeptidase domain 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583655	Meig1	meiosis/spermiogenesis associated 1	gene	DOID:3275	thymoma		ISO	RGD:1348116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583655	Meig1	meiosis/spermiogenesis associated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583655	Meig1	meiosis/spermiogenesis associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583663	Raet1ll1	retinoic acid early transcript 1L like 1	gene	DOID:9004283	Transplant Rejection		IEP		D	RGD:9685184|PMID:20306467	20141222	RGD			
1583669	Glipr2	GLI pathogenesis-related 2	gene	DOID:3498	pancreatic ductal adenocarcinoma	disease_progression	ISO	RGD:1316497	D	RGD:151660329|PMID:32663515	20220303	RGD		protein:decreased expression:blood (human)	
1583669	Glipr2	GLI pathogenesis-related 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1583669	Glipr2	GLI pathogenesis-related 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1316497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1583669	Glipr2	GLI pathogenesis-related 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1583669	Glipr2	GLI pathogenesis-related 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583676	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:0050742	nicotine dependence		ISO	RGD:1321123	D	RGD:11554173	20241105	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1583676	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583676	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:10283	prostate cancer		ISO	RGD:1321123	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1583676	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:10283	prostate cancer		ISO	RGD:1321123	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1583676	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:10534	stomach cancer		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583676	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583676	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:1115	sarcoma		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583676	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:1324	lung cancer		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583676	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:1909	melanoma		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583676	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1583676	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583676	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583676	Plekhg1	pleckstrin homology and RhoGEF domain containing G1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583677	Tmem131l	transmembrane 131 like	gene	DOID:0060058	lymphoma		ISO	RGD:1604047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1583677	Tmem131l	transmembrane 131 like	gene	DOID:10534	stomach cancer		ISO	RGD:1604047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583677	Tmem131l	transmembrane 131 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583677	Tmem131l	transmembrane 131 like	gene	DOID:1115	sarcoma		ISO	RGD:1604047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583677	Tmem131l	transmembrane 131 like	gene	DOID:1324	lung cancer		ISO	RGD:1604047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583677	Tmem131l	transmembrane 131 like	gene	DOID:3275	thymoma		ISO	RGD:1604047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583677	Tmem131l	transmembrane 131 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604047	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1583677	Tmem131l	transmembrane 131 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1604047	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583677	Tmem131l	transmembrane 131 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583677	Tmem131l	transmembrane 131 like	gene	DOID:6039	uveal melanoma		ISO	RGD:1604047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1583677	Tmem131l	transmembrane 131 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583677	Tmem131l	transmembrane 131 like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1583677	Tmem131l	transmembrane 131 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583677	Tmem131l	transmembrane 131 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583681	Fer1l5	fer-1-like family member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583681	Fer1l5	fer-1-like family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583681	Fer1l5	fer-1-like family member 5	gene	DOID:3275	thymoma		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583681	Fer1l5	fer-1-like family member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1625097	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583681	Fer1l5	fer-1-like family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583681	Fer1l5	fer-1-like family member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583681	Fer1l5	fer-1-like family member 5	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1583681	Fer1l5	fer-1-like family member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583681	Fer1l5	fer-1-like family member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1625097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583685	Saxo1	stabilizer of axonemal microtubules 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583685	Saxo1	stabilizer of axonemal microtubules 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583685	Saxo1	stabilizer of axonemal microtubules 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1583689	Ugt1a5	UDP glucuronosyltransferase family 1 member A5	gene	DOID:10608	celiac disease		ISO	RGD:1343519	D	RGD:11554173	20190611	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
1583689	Ugt1a5	UDP glucuronosyltransferase family 1 member A5	gene	DOID:3803	Crigler-Najjar syndrome		ISO	RGD:8563020	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Crigler-Najjar syndrome	PMID:11061796|PMID:11983459|PMID:12181437|PMID:12485959|PMID:15304109|PMID:15304120|PMID:18004206|PMID:18414213|PMID:18419642|PMID:21297505|PMID:21319362|PMID:22169899|PMID:24033266|PMID:24749086|PMID:25741868|PMID:26250421|PMID:28492532|PMID:29137095|PMID:9630669
1583689	Ugt1a5	UDP glucuronosyltransferase family 1 member A5	gene	DOID:3803	Crigler-Najjar syndrome		ISO	RGD:8563027	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Crigler-Najjar syndrome	PMID:11906189|PMID:15378351|PMID:25741868|PMID:32860008
1583704	Cdkl4	cyclin-dependent kinase-like 4	gene	DOID:1324	lung cancer		ISO	RGD:1603844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583704	Cdkl4	cyclin-dependent kinase-like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583704	Cdkl4	cyclin-dependent kinase-like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583718	Cd300lb	CD300 molecule-like family member b	gene	DOID:1909	melanoma		ISO	RGD:1604243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583719	Cd300a	Cd300a molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583719	Cd300a	Cd300a molecule	gene	DOID:1324	lung cancer		ISO	RGD:1344130	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583719	Cd300a	Cd300a molecule	gene	DOID:1909	melanoma		ISO	RGD:1344130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583719	Cd300a	Cd300a molecule	gene	DOID:3275	thymoma		ISO	RGD:1344130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583719	Cd300a	Cd300a molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583719	Cd300a	Cd300a molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583719	Cd300a	Cd300a molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583731	Ankrd6	ankyrin repeat domain 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583731	Ankrd6	ankyrin repeat domain 6	gene	DOID:10534	stomach cancer		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583731	Ankrd6	ankyrin repeat domain 6	gene	DOID:1115	sarcoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583731	Ankrd6	ankyrin repeat domain 6	gene	DOID:1324	lung cancer		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583731	Ankrd6	ankyrin repeat domain 6	gene	DOID:1909	melanoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583731	Ankrd6	ankyrin repeat domain 6	gene	DOID:3275	thymoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583731	Ankrd6	ankyrin repeat domain 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1583731	Ankrd6	ankyrin repeat domain 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1317569	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583731	Ankrd6	ankyrin repeat domain 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1583731	Ankrd6	ankyrin repeat domain 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583731	Ankrd6	ankyrin repeat domain 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1583731	Ankrd6	ankyrin repeat domain 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583731	Ankrd6	ankyrin repeat domain 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583731	Ankrd6	ankyrin repeat domain 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583733	Lrrc69	leucine rich repeat containing 69	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2293909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583733	Lrrc69	leucine rich repeat containing 69	gene	DOID:5041	esophageal cancer		ISO	RGD:2293909	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583733	Lrrc69	leucine rich repeat containing 69	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2293909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583733	Lrrc69	leucine rich repeat containing 69	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2293909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583733	Lrrc69	leucine rich repeat containing 69	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2293909	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583734	Ngrn	neugrin, neurite outgrowth associated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1583734	Ngrn	neugrin, neurite outgrowth associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583737	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:1115	sarcoma		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583737	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:1324	lung cancer		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583737	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:1909	melanoma		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583737	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:4362	cervical cancer		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583737	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583737	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583737	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583737	Kctd15	potassium channel tetramerization domain containing 15	gene	DOID:9970	obesity		ISO	RGD:1313572	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19079261
1583739	Dmrtc2	DMRT-like family C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583741	Mrpl28	mitochondrial ribosomal protein L28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583741	Mrpl28	mitochondrial ribosomal protein L28	gene	DOID:10534	stomach cancer		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583741	Mrpl28	mitochondrial ribosomal protein L28	gene	DOID:1115	sarcoma		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583741	Mrpl28	mitochondrial ribosomal protein L28	gene	DOID:1324	lung cancer		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583741	Mrpl28	mitochondrial ribosomal protein L28	gene	DOID:13501	Moebius syndrome		ISO	RGD:1349308	D	RGD:8554872	20161011	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	
1583741	Mrpl28	mitochondrial ribosomal protein L28	gene	DOID:3275	thymoma		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583741	Mrpl28	mitochondrial ribosomal protein L28	gene	DOID:5041	esophageal cancer		ISO	RGD:1349308	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583741	Mrpl28	mitochondrial ribosomal protein L28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583741	Mrpl28	mitochondrial ribosomal protein L28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583741	Mrpl28	mitochondrial ribosomal protein L28	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583741	Mrpl28	mitochondrial ribosomal protein L28	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583742	Prss33	serine protease 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583742	Prss33	serine protease 33	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583744	Atf7ip2	activating transcription factor 7 interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583744	Atf7ip2	activating transcription factor 7 interacting protein 2	gene	DOID:0060058	lymphoma		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1583744	Atf7ip2	activating transcription factor 7 interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583744	Atf7ip2	activating transcription factor 7 interacting protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583744	Atf7ip2	activating transcription factor 7 interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583744	Atf7ip2	activating transcription factor 7 interacting protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1583744	Atf7ip2	activating transcription factor 7 interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314578	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583744	Atf7ip2	activating transcription factor 7 interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583744	Atf7ip2	activating transcription factor 7 interacting protein 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1583744	Atf7ip2	activating transcription factor 7 interacting protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583765	Sp3	Sp3 transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583765	Sp3	Sp3 transcription factor	gene	DOID:0060058	lymphoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1583765	Sp3	Sp3 transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583765	Sp3	Sp3 transcription factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1319818	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583765	Sp3	Sp3 transcription factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1583765	Sp3	Sp3 transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583765	Sp3	Sp3 transcription factor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1583765	Sp3	Sp3 transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583765	Sp3	Sp3 transcription factor	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
1583765	Sp3	Sp3 transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583824	Tmem132c	transmembrane protein 132C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583824	Tmem132c	transmembrane protein 132C	gene	DOID:1115	sarcoma		ISO	RGD:1601730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583824	Tmem132c	transmembrane protein 132C	gene	DOID:11372	megacolon		ISO	RGD:1601730	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
1583824	Tmem132c	transmembrane protein 132C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1583824	Tmem132c	transmembrane protein 132C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583832	Pgd	phosphogluconate dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583832	Pgd	phosphogluconate dehydrogenase	gene	DOID:0080600	COVID-19		ISO	RGD:1343939	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1583832	Pgd	phosphogluconate dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583832	Pgd	phosphogluconate dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583832	Pgd	phosphogluconate dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583832	Pgd	phosphogluconate dehydrogenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1583832	Pgd	phosphogluconate dehydrogenase	gene	DOID:2841	asthma		ISO	RGD:11087	D	RGD:640480060|PMID:32570040	20260327	RGD		protein:increased expression:respiratory system fluid/secretion	
1583832	Pgd	phosphogluconate dehydrogenase	gene	DOID:3070	high grade glioma		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1583832	Pgd	phosphogluconate dehydrogenase	gene	DOID:3275	thymoma		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583832	Pgd	phosphogluconate dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583832	Pgd	phosphogluconate dehydrogenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343939	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583832	Pgd	phosphogluconate dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343939	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19363144
1583832	Pgd	phosphogluconate dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583832	Pgd	phosphogluconate dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583839	Golga7b	golgin A7 family, member B	gene	DOID:1324	lung cancer		ISO	RGD:1312882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer, somatic	
1583839	Golga7b	golgin A7 family, member B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1583840	Dnmbp	dynamin binding protein	gene	DOID:0070354	cataract 48		ISO	RGD:1349665	D	RGD:7240710	20190605	OMIM			
1583840	Dnmbp	dynamin binding protein	gene	DOID:0070354	cataract 48		ISO	RGD:1349665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CATARACT 48 | ClinVar Annotator: match by term: DNMBP-related condition	PMID:25741868
1583840	Dnmbp	dynamin binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1349665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583840	Dnmbp	dynamin binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1349665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583840	Dnmbp	dynamin binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1349665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583840	Dnmbp	dynamin binding protein	gene	DOID:1909	melanoma		ISO	RGD:1349665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583840	Dnmbp	dynamin binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1349665	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583840	Dnmbp	dynamin binding protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1583840	Dnmbp	dynamin binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583843	S1pr3	sphingosine-1-phosphate receptor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583848	Dnpep	aspartyl aminopeptidase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583848	Dnpep	aspartyl aminopeptidase	gene	DOID:10534	stomach cancer		ISO	RGD:1313575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583848	Dnpep	aspartyl aminopeptidase	gene	DOID:1115	sarcoma		ISO	RGD:1313575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583848	Dnpep	aspartyl aminopeptidase	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1313575	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
1583848	Dnpep	aspartyl aminopeptidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1313575	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583848	Dnpep	aspartyl aminopeptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583848	Dnpep	aspartyl aminopeptidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583848	Dnpep	aspartyl aminopeptidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583848	Dnpep	aspartyl aminopeptidase	gene	DOID:9256	colorectal cancer		ISO	RGD:1313575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1583850	Fsd1	fibronectin type III and SPRY domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1345798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583850	Fsd1	fibronectin type III and SPRY domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1583850	Fsd1	fibronectin type III and SPRY domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583850	Fsd1	fibronectin type III and SPRY domain containing 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1345798	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
1583850	Fsd1	fibronectin type III and SPRY domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583854	Fmnl3	formin-like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583854	Fmnl3	formin-like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583854	Fmnl3	formin-like 3	gene	DOID:1115	sarcoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583854	Fmnl3	formin-like 3	gene	DOID:1909	melanoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583854	Fmnl3	formin-like 3	gene	DOID:3275	thymoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583854	Fmnl3	formin-like 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1583854	Fmnl3	formin-like 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1583854	Fmnl3	formin-like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583854	Fmnl3	formin-like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583854	Fmnl3	formin-like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583854	Fmnl3	formin-like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583856	Zfp277	zinc finger protein 277	gene	DOID:10534	stomach cancer		ISO	RGD:1353791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583856	Zfp277	zinc finger protein 277	gene	DOID:1115	sarcoma		ISO	RGD:1353791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583856	Zfp277	zinc finger protein 277	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1583856	Zfp277	zinc finger protein 277	gene	DOID:4362	cervical cancer		ISO	RGD:1353791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583856	Zfp277	zinc finger protein 277	gene	DOID:5041	esophageal cancer		ISO	RGD:1353791	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:0014667	disease of metabolism		ISO	RGD:730826	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16515477
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:0051064	left ventricular failure		ISO	RGD:730827	D	RGD:10401867|PMID:21825219	20151009	RGD			
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:1115	sarcoma		ISO	RGD:730826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:11476	osteoporosis		ISO	RGD:730827	D	RGD:10401868|PMID:19936213	20151009	RGD			
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:1324	lung cancer		ISO	RGD:730826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:730826	D	RGD:11554173	20210510	CTD		CTD Direct Evidence: marker/mechanism	PMID:22975021
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:3347	osteosarcoma		ISO	RGD:730826	D	RGD:11554173	20220607	CTD		CTD Direct Evidence: marker/mechanism	PMID:24967384|PMID:34524571
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:730826	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:6000	congestive heart failure		ISO	RGD:730826	D	RGD:10401867|PMID:21825219	20151009	RGD		protein:decreased expression:heart:	
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:9000918	Disease Progression		ISO	RGD:730826	D	RGD:11554173	20220607	CTD		CTD Direct Evidence: marker/mechanism	PMID:34524571
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:730826	D	RGD:11554173	20220607	CTD		CTD Direct Evidence: marker/mechanism	PMID:34524571
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:730826	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23090186
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730826	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20961995
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:730826	D	RGD:1625637|PMID:16755280	20070615	RGD			
1583866	Esrra	estrogen related receptor, alpha	gene	DOID:9970	obesity	no_association	ISO	RGD:730826	D	RGD:1625637|PMID:16755280	20070615	RGD			
1583872	Il16	interleukin 16	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1351288	D	RGD:152177496|PMID:27354594	20220513	RGD		DNA:SNP:3'utr: (rs1131445) T>C (human)	
1583872	Il16	interleukin 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583872	Il16	interleukin 16	gene	DOID:10283	prostate cancer		ISO	RGD:1351288	D	RGD:2293182|PMID:18264096	20110302	RGD		DNA:SNP:exon:rs4072111 (human)	
1583872	Il16	interleukin 16	gene	DOID:10534	stomach cancer		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583872	Il16	interleukin 16	gene	DOID:1115	sarcoma		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583872	Il16	interleukin 16	gene	DOID:1205	allergic disease		ISO	RGD:1351288	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23624239
1583872	Il16	interleukin 16	gene	DOID:1324	lung cancer		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583872	Il16	interleukin 16	gene	DOID:1909	melanoma		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583872	Il16	interleukin 16	gene	DOID:2841	asthma		ISO	RGD:1351288	D	RGD:5024928|PMID:16734115	20110302	RGD		associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion	
1583872	Il16	interleukin 16	gene	DOID:2841	asthma		ISO	RGD:1351288	D	RGD:5024934|PMID:16387589	20110302	RGD		DNA:SNP:promoter:-295T>C (human)	
1583872	Il16	interleukin 16	gene	DOID:2841	asthma		ISO	RGD:1557964	D	RGD:5024937|PMID:10585533	20110302	RGD			
1583872	Il16	interleukin 16	gene	DOID:2841	asthma	no_association	ISO	RGD:1351288	D	RGD:5024935|PMID:15784111	20110302	RGD		DNA:SNP:promoter:-295T>C (human)	
1583872	Il16	interleukin 16	gene	DOID:2841	asthma	severity	ISO	RGD:1351288	D	RGD:5024930|PMID:12872394	20110302	RGD		protein:increased expression:serum	
1583872	Il16	interleukin 16	gene	DOID:3068	glioblastoma		IEP		D	RGD:5024941|PMID:17221335	20110302	RGD		protein:increased expression:brain	
1583872	Il16	interleukin 16	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1351288	D	RGD:5024941|PMID:17221335	20110302	RGD		protein:increased expression:brain	
1583872	Il16	interleukin 16	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1351288	D	RGD:5024924|PMID:20079227	20110302	RGD		protein:increased expression:lung	
1583872	Il16	interleukin 16	gene	DOID:3275	thymoma		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583872	Il16	interleukin 16	gene	DOID:3388	periodontal disease		IEP		D	RGD:5024938|PMID:20618701	20110302	RGD		mRNA:increased expression:T cell	
1583872	Il16	interleukin 16	gene	DOID:4483	rhinitis		ISO	RGD:1351288	D	RGD:5024932|PMID:18254318	20110302	RGD		protein:increased expression:serum	
1583872	Il16	interleukin 16	gene	DOID:4483	rhinitis		ISO	RGD:1557964	D	RGD:5024931|PMID:19295235	20110302	RGD		protein:increased expression:nasal cavity epithelium, serum	
1583872	Il16	interleukin 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1351288	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583872	Il16	interleukin 16	gene	DOID:5154	borna disease		IEP		D	RGD:1354526|PMID:14698845	20110302	RGD		protein:increased expression:brain	
1583872	Il16	interleukin 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583872	Il16	interleukin 16	gene	DOID:8544	chronic fatigue syndrome		ISO	RGD:1351288	D	RGD:11538286|PMID:26615570	20191112	RGD		protein:decreased expression:plasma:	
1583872	Il16	interleukin 16	gene	DOID:9000998	Brain Injuries		IEP		D	RGD:5024939|PMID:17983426	20110302	RGD			
1583872	Il16	interleukin 16	gene	DOID:9001363	Heavy Metal Poisoning, Nervous System		IEP		D	RGD:1354526|PMID:14698845	20110302	RGD		protein:increased expression:brain	
1583872	Il16	interleukin 16	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1351288	D	RGD:5024933|PMID:17431659	20110302	RGD		associated with Sinusitis	
1583872	Il16	interleukin 16	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351288	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18264096
1583872	Il16	interleukin 16	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IMP		D	RGD:5024940|PMID:17641011	20110302	RGD			
1583872	Il16	interleukin 16	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1351288	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1583872	Il16	interleukin 16	gene	DOID:9004484	Sepsis		ISO	RGD:1557964	D	RGD:5024925|PMID:19641139	20110302	RGD		associated with Shock, Hemorrhagic;protein:increased expression:lung	
1583872	Il16	interleukin 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583872	Il16	interleukin 16	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1351288	D	RGD:4145665|PMID:14633438	20110302	RGD		protein:increased expression:serum	
1583872	Il16	interleukin 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583872	Il16	interleukin 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1351288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1583874	Zfp469	zinc finger protein 469	gene	DOID:0060249	scoliosis		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:0080016	spina bifida		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida	PMID:25741868|PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:25741868|PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1316175	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group A	PMID:25168418
1583874	Zfp469	zinc finger protein 469	gene	DOID:10124	corneal disease		ISO	RGD:1316175	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18452888
1583874	Zfp469	zinc finger protein 469	gene	DOID:10534	stomach cancer		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583874	Zfp469	zinc finger protein 469	gene	DOID:1059	intellectual disability		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:10908	hydrocephalus		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868|PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:11155	hypohidrosis		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:11830	myopia		ISO	RGD:1316175	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:12143	neurogenic bladder		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:25741868|PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:1247	blood coagulation disease		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:12849	autistic disorder		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1583874	Zfp469	zinc finger protein 469	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1316175	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:23642083|PMID:23680354|PMID:24825865|PMID:24895405|PMID:25097247|PMID:25564447|PMID:25741868|PMID:27040692|PMID:28492532|PMID:28622062|PMID:29228253|PMID:29843651|PMID:32671420|PMID:33739556|PMID:33816482|PMID:34368841|PMID:35982159|PMID:38684849
1583874	Zfp469	zinc finger protein 469	gene	DOID:14775	brittle cornea syndrome 1		ISO	RGD:1316175	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18452888
1583874	Zfp469	zinc finger protein 469	gene	DOID:14775	brittle cornea syndrome 1		ISO	RGD:1316175	D	RGD:7240710	20140723	OMIM			
1583874	Zfp469	zinc finger protein 469	gene	DOID:14775	brittle cornea syndrome 1		ISO	RGD:1316175	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition	PMID:18452888|PMID:19661234|PMID:20938016|PMID:23642083|PMID:23680354|PMID:24082139|PMID:24895405|PMID:25097247|PMID:25564447|PMID:25741868|PMID:28377322|PMID:28484309|PMID:28492532|PMID:28518168|PMID:28622062|PMID:29228253|PMID:31107761|PMID:32461654|PMID:32671420|PMID:33739556|PMID:33747040|PMID:33816482|PMID:34368841|PMID:5755738|PMID:7387950
1583874	Zfp469	zinc finger protein 469	gene	DOID:14775	brittle cornea syndrome 1		ISO	RGD:1316175	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1 | ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: Fragilitas oculi with joint hyperextensibility | ClinVar Annotator: match by term: ZNF469-related condition	PMID:23642083|PMID:23680354|PMID:24825865|PMID:24895405|PMID:25097247|PMID:25564447|PMID:25741868|PMID:26339402|PMID:27040692|PMID:28492532|PMID:28622062|PMID:29228253|PMID:29843651|PMID:32671420|PMID:33737726|PMID:33739556|PMID:33816482|PMID:34368841|PMID:38039006|PMID:38684849
1583874	Zfp469	zinc finger protein 469	gene	DOID:14775	brittle cornea syndrome 1		ISS	RGD:1622141	D	RGD:13592920	20230718	MouseDO		OMIM:229200	
1583874	Zfp469	zinc finger protein 469	gene	DOID:1596	depressive disorder		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:1826	epilepsy		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:2030	anxiety disorder		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:3087	gingivitis		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:4362	cervical cancer		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:480	movement disease		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
1583874	Zfp469	zinc finger protein 469	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:799	varicose veins		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Varicose disease	PMID:25741868
1583874	Zfp469	zinc finger protein 469	gene	DOID:7998	hyperthyroidism		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
1583874	Zfp469	zinc finger protein 469	gene	DOID:824	periodontitis		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:9001224	Striae Distensae		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868|PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:9001733	Tinnitus		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:9001946	Skin Abnormalities		ISO	RGD:1316175	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18452888
1583874	Zfp469	zinc finger protein 469	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1583874	Zfp469	zinc finger protein 469	gene	DOID:9003318	Keratoconus 1		ISO	RGD:1316175	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Keratoconus 1	PMID:24895405|PMID:25564447|PMID:25741868|PMID:28492532|PMID:29228253|PMID:33816482|PMID:41153364
1583874	Zfp469	zinc finger protein 469	gene	DOID:9003539	Hyperacusis		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
1583874	Zfp469	zinc finger protein 469	gene	DOID:9005077	Joint Instability		ISO	RGD:1316175	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18452888
1583874	Zfp469	zinc finger protein 469	gene	DOID:9005077	Joint Instability		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:9007736	Vertigo		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:9008023	Memory Disorders		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
1583874	Zfp469	zinc finger protein 469	gene	DOID:9409	diabetes insipidus		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	
1583874	Zfp469	zinc finger protein 469	gene	DOID:9834	hyperopia		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1583874	Zfp469	zinc finger protein 469	gene	DOID:9970	obesity		ISO	RGD:1316175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1583877	H3f4	H3.4 histone, cluster member	gene	DOID:10316	pneumoconiosis		ISO	RGD:1317808	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
1583877	H3f4	H3.4 histone, cluster member	gene	DOID:1059	intellectual disability		ISO	RGD:1317808	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:1115	sarcoma		ISO	RGD:1602882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:1324	lung cancer		ISO	RGD:1602882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:1909	melanoma		ISO	RGD:1602882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:3275	thymoma		ISO	RGD:1602882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:4362	cervical cancer		ISO	RGD:1602882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1602882	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1602882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1602882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:9004657	Weight Gain		ISO	RGD:1602882	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583880	Zwilch	zwilch kinetochore protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583888	C6h14orf180	similar to human chromosome 14 open reading frame 180	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583888	C6h14orf180	similar to human chromosome 14 open reading frame 180	gene	DOID:1115	sarcoma		ISO	RGD:1603812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583888	C6h14orf180	similar to human chromosome 14 open reading frame 180	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603812	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1583888	C6h14orf180	similar to human chromosome 14 open reading frame 180	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583889	Eri2	ERI1 exoribonuclease family member 2	gene	DOID:0080600	COVID-19		ISO	RGD:1605306	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1583889	Eri2	ERI1 exoribonuclease family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583889	Eri2	ERI1 exoribonuclease family member 2	gene	DOID:3275	thymoma		ISO	RGD:1605306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583889	Eri2	ERI1 exoribonuclease family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583889	Eri2	ERI1 exoribonuclease family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583895	Cpne6	copine 6	gene	DOID:1324	lung cancer		ISO	RGD:1313396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583895	Cpne6	copine 6	gene	DOID:3070	high grade glioma		ISO	RGD:1313396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1583902	Slc2a7	solute carrier family 2 member 7	gene	DOID:0060058	lymphoma		ISO	RGD:1344587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1583902	Slc2a7	solute carrier family 2 member 7	gene	DOID:1115	sarcoma		ISO	RGD:1344587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583902	Slc2a7	solute carrier family 2 member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1344587	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583902	Slc2a7	solute carrier family 2 member 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583909	Dhrs2	dehydrogenase/reductase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321774	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1583909	Dhrs2	dehydrogenase/reductase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583909	Dhrs2	dehydrogenase/reductase 2	gene	DOID:1909	melanoma		ISO	RGD:1321774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583909	Dhrs2	dehydrogenase/reductase 2	gene	DOID:3275	thymoma		ISO	RGD:1321774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583909	Dhrs2	dehydrogenase/reductase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583909	Dhrs2	dehydrogenase/reductase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583918	Calml4	calmodulin-like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583918	Calml4	calmodulin-like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583918	Calml4	calmodulin-like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583927	Tmem190	transmembrane protein 190	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583927	Tmem190	transmembrane protein 190	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583927	Tmem190	transmembrane protein 190	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583942	Slc25a33	solute carrier family 25 member 33	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604265	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583942	Slc25a33	solute carrier family 25 member 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583942	Slc25a33	solute carrier family 25 member 33	gene	DOID:1115	sarcoma		ISO	RGD:1604265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583942	Slc25a33	solute carrier family 25 member 33	gene	DOID:1324	lung cancer		ISO	RGD:1604265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583942	Slc25a33	solute carrier family 25 member 33	gene	DOID:4362	cervical cancer		ISO	RGD:1604265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583942	Slc25a33	solute carrier family 25 member 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583942	Slc25a33	solute carrier family 25 member 33	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1583942	Slc25a33	solute carrier family 25 member 33	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583944	Shisa7	shisa family member 7	gene	DOID:4362	cervical cancer		ISO	RGD:3160565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583944	Shisa7	shisa family member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3160565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583944	Shisa7	shisa family member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3160565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583947	Tmem201	transmembrane protein 201	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583947	Tmem201	transmembrane protein 201	gene	DOID:1115	sarcoma		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1583947	Tmem201	transmembrane protein 201	gene	DOID:3275	thymoma		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583947	Tmem201	transmembrane protein 201	gene	DOID:4362	cervical cancer		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583947	Tmem201	transmembrane protein 201	gene	DOID:5041	esophageal cancer		ISO	RGD:1604210	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583947	Tmem201	transmembrane protein 201	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583947	Tmem201	transmembrane protein 201	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583947	Tmem201	transmembrane protein 201	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1583947	Tmem201	transmembrane protein 201	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583955	C3h15orf62	similar to human chromosome 15 open reading frame 62	gene	DOID:9256	colorectal cancer		ISO	RGD:2299194	D	RGD:8554872	20220208	ClinVar		ClinVar Annotator: match by term: DLC1-related condition	PMID:28492532
1583957	Aknad1	AKNA domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1583957	Aknad1	AKNA domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1583957	Aknad1	AKNA domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1583957	Aknad1	AKNA domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583957	Aknad1	AKNA domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1583957	Aknad1	AKNA domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604964	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1583957	Aknad1	AKNA domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1583957	Aknad1	AKNA domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1583957	Aknad1	AKNA domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604964	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1583978	Prima1	proline rich membrane anchor 1	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:1315672	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Familial sleep-related hypermotor epilepsy	PMID:17576681|PMID:25741868|PMID:26339676|PMID:26467025|PMID:28492532|PMID:9536098
1583978	Prima1	proline rich membrane anchor 1	gene	DOID:1909	melanoma		ISO	RGD:1315672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1583978	Prima1	proline rich membrane anchor 1	gene	DOID:3275	thymoma		ISO	RGD:1315672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1583978	Prima1	proline rich membrane anchor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1583978	Prima1	proline rich membrane anchor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583978	Prima1	proline rich membrane anchor 1	gene	DOID:9884	muscular dystrophy		ISO	RGD:1315672	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22906800
1583985	Fam168b	family with sequence similarity 168, member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1583985	Fam168b	family with sequence similarity 168, member B	gene	DOID:1324	lung cancer		ISO	RGD:1606974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1583985	Fam168b	family with sequence similarity 168, member B	gene	DOID:2661	myoepithelioma		ISO	RGD:1606974	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1583985	Fam168b	family with sequence similarity 168, member B	gene	DOID:3070	high grade glioma		ISO	RGD:1606974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1583985	Fam168b	family with sequence similarity 168, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1583985	Fam168b	family with sequence similarity 168, member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606974	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1584007	Harbi1	harbinger transposase derived 1	gene	DOID:3070	high grade glioma		ISO	RGD:1601808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1584007	Harbi1	harbinger transposase derived 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601808	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584007	Harbi1	harbinger transposase derived 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1312252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1312252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:11476	osteoporosis		ISO	RGD:1312252	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:1909	melanoma		ISO	RGD:1312252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:1312252	D	RGD:2326201|PMID:8844009	20100629	RGD		protein:decreased activity:multiple (human)	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312252	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:630	genetic disease		ISO	RGD:1312252	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:9001530	Succinyl-CoA:3-oxoacid CoA transferase deficiency		ISO	RGD:1312252	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:9001530	Succinyl-CoA:3-oxoacid CoA transferase deficiency		ISO	RGD:1312252	D	RGD:7240710	20130221	OMIM			
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:9001530	Succinyl-CoA:3-oxoacid CoA transferase deficiency		ISO	RGD:1312252	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: OXCT1-related condition | ClinVar Annotator: match by term: SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY | ClinVar Annotator: match by term: Succinyl CoA:3-oxoacid CoA transferase deficiency | ClinVar Annotator: match by term: Succinyl-CoA:3-oxoacid-CoA transferase deficiency	PMID:10964512|PMID:17576681|PMID:17706444|PMID:21296660|PMID:23281106|PMID:25741868|PMID:28492532|PMID:8751852|PMID:9536098
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		IEP		D	RGD:2326100|PMID:3548709	20100624	RGD		protein:decreased activity:heart, mitochondrion (rat)	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:9006253	Ketosis		ISO	RGD:1312252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ketonuria	PMID:25741868
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:9007730	Burns		IEP		D	RGD:2326198|PMID:15449568	20100629	RGD		protein:increased expression:ileum (rat)	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:9008811	Tachypnea		ISO	RGD:1312252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:9352	type 2 diabetes mellitus		IEP		D	RGD:2326185|PMID:20460097	20100629	RGD		mRNA, protein:decreased expression, decreased activity:pancreatic islets (rat)	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:9970	obesity		IEP		D	RGD:2326191|PMID:19219059	20100629	RGD		mRNA:decreased expression:thalamus (rat)	
1584008	Oxct1	3-oxoacid CoA transferase 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1312252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
1584010	Hfm1	helicase for meiosis 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584010	Hfm1	helicase for meiosis 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584010	Hfm1	helicase for meiosis 1	gene	DOID:0070176	spermatogenic failure 4		ISO	RGD:1606438	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 4	
1584010	Hfm1	helicase for meiosis 1	gene	DOID:0080866	primary ovarian insufficiency 9		ISO	RGD:1606438	D	RGD:7240710	20140911	OMIM			
1584010	Hfm1	helicase for meiosis 1	gene	DOID:0080866	primary ovarian insufficiency 9		ISO	RGD:1606438	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 9 | ClinVar Annotator: match by term: Premature ovarian failure 9 | ClinVar Annotator: match by term: premature ovarian failure 9	PMID:25741868|PMID:35526155
1584010	Hfm1	helicase for meiosis 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1606438	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
1584010	Hfm1	helicase for meiosis 1	gene	DOID:14227	azoospermia		ISO	RGD:1606438	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Azoospermia	
1584010	Hfm1	helicase for meiosis 1	gene	DOID:1909	melanoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584010	Hfm1	helicase for meiosis 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1584010	Hfm1	helicase for meiosis 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584010	Hfm1	helicase for meiosis 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1584010	Hfm1	helicase for meiosis 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606438	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584010	Hfm1	helicase for meiosis 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606438	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
1584010	Hfm1	helicase for meiosis 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584010	Hfm1	helicase for meiosis 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584013	Fpr2	formyl peptide receptor 2	gene	DOID:10461	dentin caries		IEP		D	RGD:408427365|PMID:29396644	20241125	RGD			
1584013	Fpr2	formyl peptide receptor 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1316624	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
1584013	Fpr2	formyl peptide receptor 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1316624	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21659618
1584027	Redic1	regulator of DNA class I crossover intermediates 1	gene	DOID:0111910	spermatogenic failure		ISO	RGD:1606924	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Spermatogenic Failure	
1584029	Rbm24	RNA binding motif protein 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584029	Rbm24	RNA binding motif protein 24	gene	DOID:1115	sarcoma		ISO	RGD:1317276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584029	Rbm24	RNA binding motif protein 24	gene	DOID:12930	dilated cardiomyopathy		ISS	RGD:1614519	D	RGD:13592920	20221229	MouseDO			
1584029	Rbm24	RNA binding motif protein 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1584031	Tmem120b	transmembrane protein 120B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1626589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584031	Tmem120b	transmembrane protein 120B	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1626589	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Exstrophy-epispadias complex	PMID:25741868
1584031	Tmem120b	transmembrane protein 120B	gene	DOID:10534	stomach cancer		ISO	RGD:1626589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584031	Tmem120b	transmembrane protein 120B	gene	DOID:1324	lung cancer		ISO	RGD:1626589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584031	Tmem120b	transmembrane protein 120B	gene	DOID:1909	melanoma		ISO	RGD:1626589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584031	Tmem120b	transmembrane protein 120B	gene	DOID:3275	thymoma		ISO	RGD:1626589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1584031	Tmem120b	transmembrane protein 120B	gene	DOID:4362	cervical cancer		ISO	RGD:1626589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584031	Tmem120b	transmembrane protein 120B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1626589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584031	Tmem120b	transmembrane protein 120B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1626589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584031	Tmem120b	transmembrane protein 120B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1626589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
1584051	Rgsl1	regulator of G-protein signaling like 1	gene	DOID:1115	sarcoma		ISO	RGD:1353178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584051	Rgsl1	regulator of G-protein signaling like 1	gene	DOID:3275	thymoma		ISO	RGD:1353178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1584051	Rgsl1	regulator of G-protein signaling like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584051	Rgsl1	regulator of G-protein signaling like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584051	Rgsl1	regulator of G-protein signaling like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584051	Rgsl1	regulator of G-protein signaling like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584051	Rgsl1	regulator of G-protein signaling like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584051	Rgsl1	regulator of G-protein signaling like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:0070183	spermatogenic failure 5		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder	PMID:25741868|PMID:28492532|PMID:34932939|PMID:36768883
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:0112354	spermatogenic failure 65		ISO	RGD:1601824	D	RGD:7240710	20220202	OMIM			
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:0112354	spermatogenic failure 65		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DNHD1-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 65 | ClinVar Annotator: match by term: Spermatogenic failure 65 | ClinVar Annotator: match by term: spermatogenic failure 65	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34932939|PMID:36768883
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:10488	imperforate anus		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868|PMID:28492532|PMID:34932939
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:1059	intellectual disability		ISO	RGD:1601824	D	RGD:8554872	20250121	ClinVar		ClinVar Annotator: match by term: DNHD1-related Intellectual Disability	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:1826	epilepsy		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:1909	melanoma		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:3275	thymoma		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1601824	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1601824	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:28492532|PMID:34932939
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1601824	D	RGD:8554872	20230425	ClinVar		ClinVar Annotator: match by term: DNHD1-related Neurodevelopmental Disorder	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584052	Dnhd1	dynein heavy chain domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584081	Nol11	nucleolar protein 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584081	Nol11	nucleolar protein 11	gene	DOID:10534	stomach cancer		ISO	RGD:1603676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584081	Nol11	nucleolar protein 11	gene	DOID:1115	sarcoma		ISO	RGD:1603676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584081	Nol11	nucleolar protein 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1584081	Nol11	nucleolar protein 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1584081	Nol11	nucleolar protein 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1584081	Nol11	nucleolar protein 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1603676	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584081	Nol11	nucleolar protein 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584081	Nol11	nucleolar protein 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1584081	Nol11	nucleolar protein 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584081	Nol11	nucleolar protein 11	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1584081	Nol11	nucleolar protein 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584081	Nol11	nucleolar protein 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584097	Cox6b1	cytochrome c oxidase subunit 6B1	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1343660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:25741868|PMID:28492532
1584097	Cox6b1	cytochrome c oxidase subunit 6B1	gene	DOID:0070494	mitochondrial complex IV deficiency nuclear type 7		ISO	RGD:1343660	D	RGD:7240710	20201111	OMIM			
1584097	Cox6b1	cytochrome c oxidase subunit 6B1	gene	DOID:0070494	mitochondrial complex IV deficiency nuclear type 7		ISO	RGD:1343660	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 7	PMID:25741868|PMID:28492532
1584097	Cox6b1	cytochrome c oxidase subunit 6B1	gene	DOID:1324	lung cancer		ISO	RGD:1343660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584097	Cox6b1	cytochrome c oxidase subunit 6B1	gene	DOID:3070	high grade glioma		ISO	RGD:1343660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1584097	Cox6b1	cytochrome c oxidase subunit 6B1	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1343660	D	RGD:11554173	20250708	CTD		CTD Direct Evidence: marker/mechanism	
1584097	Cox6b1	cytochrome c oxidase subunit 6B1	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1343660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex IV deficiency	PMID:25741868|PMID:28492532
1584097	Cox6b1	cytochrome c oxidase subunit 6B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584097	Cox6b1	cytochrome c oxidase subunit 6B1	gene	DOID:630	genetic disease		ISO	RGD:1343660	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1584097	Cox6b1	cytochrome c oxidase subunit 6B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584097	Cox6b1	cytochrome c oxidase subunit 6B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584102	Tmem61	transmembrane protein 61	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584102	Tmem61	transmembrane protein 61	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604209	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584104	Ip6k3	inositol hexakisphosphate kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1350328	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584104	Ip6k3	inositol hexakisphosphate kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584104	Ip6k3	inositol hexakisphosphate kinase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1584104	Ip6k3	inositol hexakisphosphate kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584104	Ip6k3	inositol hexakisphosphate kinase 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1350328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1584118	Tsga13	testis specific, 13	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1314383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
1584118	Tsga13	testis specific, 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584121	Zbtb32	zinc finger and BTB domain containing 32	gene	DOID:0080600	COVID-19		ISO	RGD:1604369	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1584121	Zbtb32	zinc finger and BTB domain containing 32	gene	DOID:10534	stomach cancer		ISO	RGD:1604369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584121	Zbtb32	zinc finger and BTB domain containing 32	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584121	Zbtb32	zinc finger and BTB domain containing 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584121	Zbtb32	zinc finger and BTB domain containing 32	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584123	Nap1l5	nucleosome assembly protein 1-like 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348887	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1584124	Cxhxorf66	similar to human chromosome X open reading frame 66	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584124	Cxhxorf66	similar to human chromosome X open reading frame 66	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584125	Nalf2	NALCN channel auxiliary factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584125	Nalf2	NALCN channel auxiliary factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584143	Cdc20b	cell division cycle 20B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602643	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584143	Cdc20b	cell division cycle 20B	gene	DOID:0060081	triple-negative breast cancer		ISO	RGD:1602643	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Triple-negative breast cancer	
1584143	Cdc20b	cell division cycle 20B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584143	Cdc20b	cell division cycle 20B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1584143	Cdc20b	cell division cycle 20B	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1602643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Triple-negative breast cancer	
1584144	Tbx10	T-box transcription factor 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1584144	Tbx10	T-box transcription factor 10	gene	DOID:674	cleft palate		ISO	RGD:1342498	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: cleft palate	
1584144	Tbx10	T-box transcription factor 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584147	Cib4	calcium and integrin binding family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584153	Dda1	DET1 and DDB1 associated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584153	Dda1	DET1 and DDB1 associated 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601973	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1584155	Slc25a28	solute carrier family 25 member 28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584155	Slc25a28	solute carrier family 25 member 28	gene	DOID:1115	sarcoma		ISO	RGD:1312988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584155	Slc25a28	solute carrier family 25 member 28	gene	DOID:1909	melanoma		ISO	RGD:1312988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584155	Slc25a28	solute carrier family 25 member 28	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1584155	Slc25a28	solute carrier family 25 member 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584164	Mcidas	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:6771255	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia 3	
1584164	Mcidas	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:0111855	primary ciliary dyskinesia 42		ISO	RGD:6771255	D	RGD:7240710	20200101	OMIM			
1584164	Mcidas	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:0111855	primary ciliary dyskinesia 42		ISO	RGD:6771255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 42 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 42 | ClinVar Annotator: match by term: MCIDAS-related condition	PMID:24033266|PMID:25048963|PMID:25741868|PMID:28492532|PMID:8813877
1584164	Mcidas	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:630	genetic disease		ISO	RGD:6771255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1584164	Mcidas	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:6771255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:25741868|PMID:28492532
1584164	Mcidas	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:6771255	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25048963|PMID:25741868|PMID:28492532|PMID:8813877|PMID:9536098
1584166	Aldh3b2	aldehyde dehydrogenase 3 family, member B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584166	Aldh3b2	aldehyde dehydrogenase 3 family, member B2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318187	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1584166	Aldh3b2	aldehyde dehydrogenase 3 family, member B2	gene	DOID:1324	lung cancer		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584166	Aldh3b2	aldehyde dehydrogenase 3 family, member B2	gene	DOID:1909	melanoma		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584166	Aldh3b2	aldehyde dehydrogenase 3 family, member B2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1584166	Aldh3b2	aldehyde dehydrogenase 3 family, member B2	gene	DOID:4362	cervical cancer		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584166	Aldh3b2	aldehyde dehydrogenase 3 family, member B2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1584166	Aldh3b2	aldehyde dehydrogenase 3 family, member B2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318187	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584166	Aldh3b2	aldehyde dehydrogenase 3 family, member B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584166	Aldh3b2	aldehyde dehydrogenase 3 family, member B2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1349504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22158538
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:0081254	posterior fossa group A ependymoma		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Posterior fossa group A ependymoma	PMID:27993330|PMID:34546980|PMID:36139566
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:11476	osteoporosis		ISO	RGD:1349504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25267526|PMID:28436936|PMID:29991672|PMID:30842218|PMID:35101336
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1349504	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1349504	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584190	U2af1	U2 small nuclear RNA auxiliary factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584200	Denr	density regulated reinitiation and release factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1351149	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584200	Denr	density regulated reinitiation and release factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584200	Denr	density regulated reinitiation and release factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584204	Anks4b	ankyrin repeat and sterile alpha motif domain containing 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584204	Anks4b	ankyrin repeat and sterile alpha motif domain containing 4B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584205	C19h16orf95	similar to human chromosome 16 open reading frame 95	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:5132711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584205	C19h16orf95	similar to human chromosome 16 open reading frame 95	gene	DOID:10534	stomach cancer		ISO	RGD:5132711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584205	C19h16orf95	similar to human chromosome 16 open reading frame 95	gene	DOID:3275	thymoma		ISO	RGD:5132711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1584205	C19h16orf95	similar to human chromosome 16 open reading frame 95	gene	DOID:5041	esophageal cancer		ISO	RGD:5132711	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584212	Foxl1	forkhead box L1	gene	DOID:0060928	otosclerosis 11		ISO	RGD:1353210	D	RGD:7240710	20231115	OMIM			
1584212	Foxl1	forkhead box L1	gene	DOID:0060928	otosclerosis 11		ISO	RGD:1353210	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: OTOSCLEROSIS 11	PMID:30311386|PMID:34633540|PMID:35885890
1584226	Mthfsd	methenyltetrahydrofolate synthetase domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584226	Mthfsd	methenyltetrahydrofolate synthetase domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584226	Mthfsd	methenyltetrahydrofolate synthetase domain containing	gene	DOID:3275	thymoma		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1584226	Mthfsd	methenyltetrahydrofolate synthetase domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584226	Mthfsd	methenyltetrahydrofolate synthetase domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584226	Mthfsd	methenyltetrahydrofolate synthetase domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584226	Mthfsd	methenyltetrahydrofolate synthetase domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584229	Foxf1	forkhead box F1	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1348211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular canal defect	PMID:25741868
1584229	Foxf1	forkhead box F1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584229	Foxf1	forkhead box F1	gene	DOID:0060260	ptosis		ISO	RGD:1348211	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:15520767|PMID:25741868
1584229	Foxf1	forkhead box F1	gene	DOID:114	heart disease		ISO	RGD:1348211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal cardiac atrium morphology	PMID:25741868
1584229	Foxf1	forkhead box F1	gene	DOID:12215	oligohydramnios		ISO	RGD:1348211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	
1584229	Foxf1	forkhead box F1	gene	DOID:13042	persistent fetal circulation syndrome		ISO	RGD:1348211	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1584229	Foxf1	forkhead box F1	gene	DOID:13042	persistent fetal circulation syndrome		ISO	RGD:1348211	D	RGD:7240710	20160127	OMIM			
1584229	Foxf1	forkhead box F1	gene	DOID:13042	persistent fetal circulation syndrome		ISO	RGD:1348211	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS | ClinVar Annotator: match by term: Alveolar capillary dysplasia | ClinVar Annotator: match by term: Alveolar capillary dysplasia with misalignment of pulmonary veins | ClinVar Annotator: match by term: FOXF1-related disorder	PMID:15520767|PMID:19500772|PMID:23505205|PMID:25741868|PMID:27071622|PMID:27439648|PMID:28469849|PMID:28492532|PMID:36474027
1584229	Foxf1	forkhead box F1	gene	DOID:13042	persistent fetal circulation syndrome		ISS	RGD:1616863	D	RGD:13592920	20230718	MouseDO		OMIM:265380	
1584229	Foxf1	forkhead box F1	gene	DOID:13948	bladder neck obstruction		ISO	RGD:1348211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder outlet obstruction	
1584229	Foxf1	forkhead box F1	gene	DOID:14265	pulmonary valve insufficiency		ISO	RGD:1348211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve insufficiency	PMID:25741868
1584229	Foxf1	forkhead box F1	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:1348211	D	RGD:8554872	20160607	ClinVar		ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension	PMID:19500772|PMID:19592680|PMID:19812545|PMID:20425831|PMID:22766610|PMID:23034409|PMID:23074687|PMID:23335808|PMID:23505205|PMID:23943206|PMID:24033266|PMID:24842713|PMID:26462560
1584229	Foxf1	forkhead box F1	gene	DOID:14679	VACTERL association		ISO	RGD:1348211	D	RGD:8554872	20160421	ClinVar		ClinVar Annotator: match by term: VATER association	PMID:2629409|PMID:26294094
1584229	Foxf1	forkhead box F1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1348211	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1584229	Foxf1	forkhead box F1	gene	DOID:2320	obstructive lung disease		ISO	RGD:1348211	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18421012
1584229	Foxf1	forkhead box F1	gene	DOID:350	mastocytosis		ISO	RGD:1348211	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18421012
1584229	Foxf1	forkhead box F1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1348211	D	RGD:11554173	20171010	CTD		CTD Direct Evidence: marker/mechanism	PMID:27663689
1584229	Foxf1	forkhead box F1	gene	DOID:4362	cervical cancer		ISO	RGD:1348211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584229	Foxf1	forkhead box F1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584229	Foxf1	forkhead box F1	gene	DOID:630	genetic disease		ISO	RGD:1348211	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1584229	Foxf1	forkhead box F1	gene	DOID:9000179	Infantile Hypertrophic Pyloric Stenosis 5		ISO	RGD:1348211	D	RGD:8554872	20141006	ClinVar		ClinVar Annotator: match by term: Pyloric stenosis, infantile hypertrophic, 5	
1584229	Foxf1	forkhead box F1	gene	DOID:9000807	Megaduodenum		ISO	RGD:1348211	D	RGD:8554872	20210112	ClinVar		ClinVar Annotator: match by term: Fetal megacystis	PMID:25741868
1584229	Foxf1	forkhead box F1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1348211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868
1584229	Foxf1	forkhead box F1	gene	DOID:9005563	Glomerulopathy with Giant Fibrillar Deposits		ISO	RGD:1348211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2	PMID:19500772|PMID:23505205|PMID:25741868
1584229	Foxf1	forkhead box F1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1348211	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1584266	Ppm1m	protein phosphatase, Mg2+/Mn2+ dependent, 1M	gene	DOID:10534	stomach cancer		ISO	RGD:1602186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584266	Ppm1m	protein phosphatase, Mg2+/Mn2+ dependent, 1M	gene	DOID:1324	lung cancer		ISO	RGD:1602186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584266	Ppm1m	protein phosphatase, Mg2+/Mn2+ dependent, 1M	gene	DOID:1909	melanoma		ISO	RGD:1602186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584266	Ppm1m	protein phosphatase, Mg2+/Mn2+ dependent, 1M	gene	DOID:5041	esophageal cancer		ISO	RGD:1602186	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584266	Ppm1m	protein phosphatase, Mg2+/Mn2+ dependent, 1M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584266	Ppm1m	protein phosphatase, Mg2+/Mn2+ dependent, 1M	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584266	Ppm1m	protein phosphatase, Mg2+/Mn2+ dependent, 1M	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584269	Wdr82	WD repeat domain 82	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584269	Wdr82	WD repeat domain 82	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584269	Wdr82	WD repeat domain 82	gene	DOID:3275	thymoma		ISO	RGD:1604285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1584269	Wdr82	WD repeat domain 82	gene	DOID:4362	cervical cancer		ISO	RGD:1604285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584269	Wdr82	WD repeat domain 82	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584269	Wdr82	WD repeat domain 82	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584324	Naa16	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584324	Naa16	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584324	Naa16	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1606244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584324	Naa16	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:1324	lung cancer		ISO	RGD:1606244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584324	Naa16	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1584324	Naa16	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1606244	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584324	Naa16	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584324	Naa16	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584324	Naa16	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606244	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584324	Naa16	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606244	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584329	Mtrf1	mitochondrial translation release factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584329	Mtrf1	mitochondrial translation release factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584329	Mtrf1	mitochondrial translation release factor 1	gene	DOID:1909	melanoma		ISO	RGD:1352853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584329	Mtrf1	mitochondrial translation release factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584365	Mplkip	M-phase specific PLK1 interacting protein	gene	DOID:0050528	nonphotosensitive trichothiodystrophy 4		ISO	RGD:1344320	D	RGD:7240710	20190904	OMIM			
1584365	Mplkip	M-phase specific PLK1 interacting protein	gene	DOID:0050528	nonphotosensitive trichothiodystrophy 4		ISO	RGD:1344320	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MPLKIP-related condition | ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE | ClinVar Annotator: match by term: Trichothiodystrophy 4, nonphotosensitive	PMID:15645389|PMID:16977596|PMID:25290684|PMID:25606444|PMID:25741868|PMID:26880286|PMID:28492532
1584365	Mplkip	M-phase specific PLK1 interacting protein	gene	DOID:0111866	trichothiodystrophy		ISO	RGD:1344320	D	RGD:11554173	20180801	CTD		CTD Direct Evidence: marker/mechanism	
1584365	Mplkip	M-phase specific PLK1 interacting protein	gene	DOID:0111873	photosensitive trichothiodystrophy 1		ISO	RGD:1344320	D	RGD:8554872	20160901	ClinVar		ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive	
1584365	Mplkip	M-phase specific PLK1 interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1344320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584365	Mplkip	M-phase specific PLK1 interacting protein	gene	DOID:630	genetic disease		ISO	RGD:1344320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1584365	Mplkip	M-phase specific PLK1 interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584367	Ppp1r35	protein phosphatase 1, regulatory subunit 35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584367	Ppp1r35	protein phosphatase 1, regulatory subunit 35	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584367	Ppp1r35	protein phosphatase 1, regulatory subunit 35	gene	DOID:5041	esophageal cancer		ISO	RGD:1604503	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584367	Ppp1r35	protein phosphatase 1, regulatory subunit 35	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1584367	Ppp1r35	protein phosphatase 1, regulatory subunit 35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584376	Cd300lg	Cd300 molecule-like family member G	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1584376	Cd300lg	Cd300 molecule-like family member G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584381	Hs3st6	heparan sulfate-glucosamine 3-sulfotransferase 6	gene	DOID:10316	pneumoconiosis		ISO	RGD:1344226	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
1584381	Hs3st6	heparan sulfate-glucosamine 3-sulfotransferase 6	gene	DOID:1826	epilepsy		ISO	RGD:1344226	D	RGD:8554872	20210406	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:28492532
1584381	Hs3st6	heparan sulfate-glucosamine 3-sulfotransferase 6	gene	DOID:3275	thymoma		ISO	RGD:1344226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1584381	Hs3st6	heparan sulfate-glucosamine 3-sulfotransferase 6	gene	DOID:9007991	Hereditary Angioedema 8		ISO	RGD:1344226	D	RGD:7240710	20210811	OMIM			
1584381	Hs3st6	heparan sulfate-glucosamine 3-sulfotransferase 6	gene	DOID:9007991	Hereditary Angioedema 8		ISO	RGD:1344226	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Angioedema, hereditary, 8	
1584390	Potef-ps1	POTE ankyrin domain family, member F, pseudogene 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2289881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584390	Potef-ps1	POTE ankyrin domain family, member F, pseudogene 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2289881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584390	Potef-ps1	POTE ankyrin domain family, member F, pseudogene 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2289881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584398	Zmat4	zinc finger, matrin type 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584398	Zmat4	zinc finger, matrin type 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584422	Ccdc9	coiled-coil domain containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584422	Ccdc9	coiled-coil domain containing 9	gene	DOID:10534	stomach cancer		ISO	RGD:1348427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584422	Ccdc9	coiled-coil domain containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1348427	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584422	Ccdc9	coiled-coil domain containing 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1584422	Ccdc9	coiled-coil domain containing 9	gene	DOID:4362	cervical cancer		ISO	RGD:1348427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584422	Ccdc9	coiled-coil domain containing 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348427	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1584422	Ccdc9	coiled-coil domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584422	Ccdc9	coiled-coil domain containing 9	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1348427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1584422	Ccdc9	coiled-coil domain containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584422	Ccdc9	coiled-coil domain containing 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584422	Ccdc9	coiled-coil domain containing 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584423	Zfp75d	zinc finger protein 75D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584423	Zfp75d	zinc finger protein 75D	gene	DOID:1324	lung cancer		ISO	RGD:1345365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584423	Zfp75d	zinc finger protein 75D	gene	DOID:3275	thymoma		ISO	RGD:1345365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1584423	Zfp75d	zinc finger protein 75D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584423	Zfp75d	zinc finger protein 75D	gene	DOID:630	genetic disease		ISO	RGD:1345365	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1584423	Zfp75d	zinc finger protein 75D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584423	Zfp75d	zinc finger protein 75D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:1059	intellectual disability		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
1584452	Dhx34	DExH-box helicase 34	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:1115	sarcoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:12849	autistic disorder		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:1324	lung cancer		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:1588	thrombocytopenia		ISO	RGD:1605422	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: Predisposition to thrombocytopenia	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:1909	melanoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:3070	high grade glioma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:3275	thymoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:4362	cervical cancer		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorders	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584452	Dhx34	DExH-box helicase 34	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584453	Zfp449	zinc finger protein 449	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584453	Zfp449	zinc finger protein 449	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584453	Zfp449	zinc finger protein 449	gene	DOID:10534	stomach cancer		ISO	RGD:1348166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584453	Zfp449	zinc finger protein 449	gene	DOID:1324	lung cancer		ISO	RGD:1348166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584453	Zfp449	zinc finger protein 449	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584453	Zfp449	zinc finger protein 449	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584453	Zfp449	zinc finger protein 449	gene	DOID:9007661	Dwarfism		ISO	RGD:1348166	D	RGD:8554872	20190305	ClinVar		ClinVar Annotator: match by term: Short stature	
1584453	Zfp449	zinc finger protein 449	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584466	Snx9	sorting nexin 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584466	Snx9	sorting nexin 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584466	Snx9	sorting nexin 9	gene	DOID:1115	sarcoma		ISO	RGD:1353452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584466	Snx9	sorting nexin 9	gene	DOID:1324	lung cancer		ISO	RGD:1353452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584466	Snx9	sorting nexin 9	gene	DOID:1909	melanoma		ISO	RGD:1353452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584466	Snx9	sorting nexin 9	gene	DOID:4362	cervical cancer		ISO	RGD:1353452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584466	Snx9	sorting nexin 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1353452	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584466	Snx9	sorting nexin 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1584466	Snx9	sorting nexin 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584466	Snx9	sorting nexin 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1584466	Snx9	sorting nexin 9	gene	DOID:9005233	Experimental Mammary Neoplasms		IEP		D	RGD:151665131|PMID:27766425	20241212	RGD		mRNA, protein:decreased expression:serum, mammary gland	
1584466	Snx9	sorting nexin 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584466	Snx9	sorting nexin 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584466	Snx9	sorting nexin 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1353452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1584479	Ints15	integrator complex subunit 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584479	Ints15	integrator complex subunit 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584479	Ints15	integrator complex subunit 15	gene	DOID:10534	stomach cancer		ISO	RGD:1317382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584479	Ints15	integrator complex subunit 15	gene	DOID:1115	sarcoma		ISO	RGD:1317382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584479	Ints15	integrator complex subunit 15	gene	DOID:1324	lung cancer		ISO	RGD:1317382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584479	Ints15	integrator complex subunit 15	gene	DOID:1909	melanoma		ISO	RGD:1317382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584479	Ints15	integrator complex subunit 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1317382	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584479	Ints15	integrator complex subunit 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584479	Ints15	integrator complex subunit 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584479	Ints15	integrator complex subunit 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584479	Ints15	integrator complex subunit 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584485	Sri	sorcin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584485	Sri	sorcin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584485	Sri	sorcin	gene	DOID:1115	sarcoma		ISO	RGD:1603229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584485	Sri	sorcin	gene	DOID:1324	lung cancer		ISO	RGD:1603229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584485	Sri	sorcin	gene	DOID:5041	esophageal cancer		ISO	RGD:1603229	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584485	Sri	sorcin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584485	Sri	sorcin	gene	DOID:6000	congestive heart failure		IEP		D	RGD:7327198|PMID:20945956	20130916	RGD		protein:decreased expression:cardiac muscle cell	
1584485	Sri	sorcin	gene	DOID:6000	congestive heart failure		IEP		D	RGD:7327200|PMID:12754254	20130916	RGD		associated with Hypertension	
1584485	Sri	sorcin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1584485	Sri	sorcin	gene	DOID:630	genetic disease		ISO	RGD:1603229	D	RGD:8554872	20180109	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1584485	Sri	sorcin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603229	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1584485	Sri	sorcin	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1621397	D	RGD:7327201|PMID:11485922	20130916	RGD			
1584485	Sri	sorcin	gene	DOID:9004657	Weight Gain		ISO	RGD:1603229	D	RGD:11554173	20220111	CTD		CTD Direct Evidence: therapeutic	PMID:33930463
1584485	Sri	sorcin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584525	Lbh	LBH regulator of WNT signaling pathway	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584525	Lbh	LBH regulator of WNT signaling pathway	gene	DOID:3070	high grade glioma		ISO	RGD:1604281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1584525	Lbh	LBH regulator of WNT signaling pathway	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584525	Lbh	LBH regulator of WNT signaling pathway	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604281	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1584538	Krt71	keratin 71	gene	DOID:0110710	hypotrichosis 13		ISO	RGD:1604251	D	RGD:7240710	20170503	OMIM			
1584538	Krt71	keratin 71	gene	DOID:0110710	hypotrichosis 13		ISO	RGD:1604251	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotrichosis 13 | ClinVar Annotator: match by term: KRT71-related condition	PMID:25741868|PMID:28492532
1584538	Krt71	keratin 71	gene	DOID:0110710	hypotrichosis 13		ISS	RGD:1617567	D	RGD:13592920	20230718	MouseDO		OMIM:615896	
1584538	Krt71	keratin 71	gene	DOID:305	carcinoma		ISO	RGD:1604251	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1584538	Krt71	keratin 71	gene	DOID:4362	cervical cancer		ISO	RGD:1604251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584538	Krt71	keratin 71	gene	DOID:4535	hypotrichosis		ISO	RGD:1604251	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1584538	Krt71	keratin 71	gene	DOID:5041	esophageal cancer		ISO	RGD:1604251	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584538	Krt71	keratin 71	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1604251	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1584538	Krt71	keratin 71	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1604251	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
1584538	Krt71	keratin 71	gene	DOID:987	alopecia		IAGP		D	RGD:11570415|PMID:20179389	20211021	RGD		DNA:deletion:cds:intron 1, p.Val149_Gln154 del	
1584548	Zscan2	zinc finger and SCAN domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:1606268	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1584548	Zscan2	zinc finger and SCAN domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:1606268	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1584548	Zscan2	zinc finger and SCAN domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584548	Zscan2	zinc finger and SCAN domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:10534	stomach cancer		ISO	RGD:1350072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:1324	lung cancer		ISO	RGD:1350072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:4362	cervical cancer		ISO	RGD:1350072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:5041	esophageal cancer		ISO	RGD:1350072	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:6039	uveal melanoma		ISO	RGD:1350072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1350072	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056964
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1350072	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11830523|PMID:24056964
1584560	Eif3i	eukaryotic translation initiation factor 3, subunit I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584589	Fam167b	family with sequence similarity 167, member B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606487	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1584617	Nkx3-2	NK3 homeobox 2	gene	DOID:1324	lung cancer		ISO	RGD:1353604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584617	Nkx3-2	NK3 homeobox 2	gene	DOID:1909	melanoma		ISO	RGD:1353604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584617	Nkx3-2	NK3 homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1353604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1584617	Nkx3-2	NK3 homeobox 2	gene	DOID:65	connective tissue disease		ISO	RGD:1353604	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
1584617	Nkx3-2	NK3 homeobox 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584617	Nkx3-2	NK3 homeobox 2	gene	DOID:9008170	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia		ISO	RGD:1353604	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1584617	Nkx3-2	NK3 homeobox 2	gene	DOID:9008170	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia		ISO	RGD:1353604	D	RGD:7240710	20130731	OMIM			
1584617	Nkx3-2	NK3 homeobox 2	gene	DOID:9008170	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia		ISO	RGD:1353604	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NKX3-2-related condition | ClinVar Annotator: match by term: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA | ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia	PMID:25741868|PMID:28492532|PMID:29704686
1584617	Nkx3-2	NK3 homeobox 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584648	Nxpe3	neurexophilin and PC-esterase domain family, member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584648	Nxpe3	neurexophilin and PC-esterase domain family, member 3	gene	DOID:0060058	lymphoma		ISO	RGD:1348429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1584648	Nxpe3	neurexophilin and PC-esterase domain family, member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1348429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584648	Nxpe3	neurexophilin and PC-esterase domain family, member 3	gene	DOID:1324	lung cancer		ISO	RGD:1348429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584648	Nxpe3	neurexophilin and PC-esterase domain family, member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1348429	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584648	Nxpe3	neurexophilin and PC-esterase domain family, member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584648	Nxpe3	neurexophilin and PC-esterase domain family, member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584648	Nxpe3	neurexophilin and PC-esterase domain family, member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584652	Pou6f2	POU class 6 homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584652	Pou6f2	POU class 6 homeobox 2	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1322006	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
1584652	Pou6f2	POU class 6 homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584652	Pou6f2	POU class 6 homeobox 2	gene	DOID:12849	autistic disorder		ISO	RGD:1322006	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20663923
1584652	Pou6f2	POU class 6 homeobox 2	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1322006	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
1584652	Pou6f2	POU class 6 homeobox 2	gene	DOID:3275	thymoma		ISO	RGD:1322006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1584652	Pou6f2	POU class 6 homeobox 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1584652	Pou6f2	POU class 6 homeobox 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1584652	Pou6f2	POU class 6 homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584652	Pou6f2	POU class 6 homeobox 2	gene	DOID:9001781	Wilms Tumor 5		ISO	RGD:1322006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POU6F2-related condition | ClinVar Annotator: match by term: WILMS TUMOR 5 | ClinVar Annotator: match by term: Wilms tumor 5	PMID:11284034|PMID:25741868|PMID:28492532
1584652	Pou6f2	POU class 6 homeobox 2	gene	DOID:9001781	Wilms Tumor 5	susceptibility	ISO	RGD:1322006	D	RGD:7240710	20190502	OMIM			
1584653	Ccdc157	coiled-coil domain containing 157	gene	DOID:0070311	oligoasthenoteratozoospermia		ISS	RGD:1618178	D	RGD:13592920	20240404	MouseDO			
1584653	Ccdc157	coiled-coil domain containing 157	gene	DOID:1115	sarcoma		ISO	RGD:1604878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584658	Pigf	phosphatidylinositol glycan anchor biosynthesis, class F	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584658	Pigf	phosphatidylinositol glycan anchor biosynthesis, class F	gene	DOID:10534	stomach cancer		ISO	RGD:1351645	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584658	Pigf	phosphatidylinositol glycan anchor biosynthesis, class F	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584658	Pigf	phosphatidylinositol glycan anchor biosynthesis, class F	gene	DOID:5041	esophageal cancer		ISO	RGD:1351645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584658	Pigf	phosphatidylinositol glycan anchor biosynthesis, class F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584658	Pigf	phosphatidylinositol glycan anchor biosynthesis, class F	gene	DOID:9001770	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME		ISO	RGD:1351645	D	RGD:7240710	20210818	OMIM			
1584658	Pigf	phosphatidylinositol glycan anchor biosynthesis, class F	gene	DOID:9001770	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME		ISO	RGD:1351645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: PIGF-related condition	
1584674	Fcamr	Fc alpha and mu receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605024	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584674	Fcamr	Fc alpha and mu receptor	gene	DOID:1909	melanoma		ISO	RGD:1605024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584674	Fcamr	Fc alpha and mu receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584674	Fcamr	Fc alpha and mu receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584674	Fcamr	Fc alpha and mu receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:1605024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1584682	Slbp	stem-loop histone mRNA binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584682	Slbp	stem-loop histone mRNA binding protein	gene	DOID:12270	coloboma		ISO	RGD:1350910	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30695021
1584682	Slbp	stem-loop histone mRNA binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1350910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584682	Slbp	stem-loop histone mRNA binding protein	gene	DOID:1909	melanoma		ISO	RGD:1350910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584682	Slbp	stem-loop histone mRNA binding protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1350910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1584682	Slbp	stem-loop histone mRNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1350910	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584682	Slbp	stem-loop histone mRNA binding protein	gene	DOID:5723	optic atrophy		ISO	RGD:1350910	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30695021
1584682	Slbp	stem-loop histone mRNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584682	Slbp	stem-loop histone mRNA binding protein	gene	DOID:9006597	Retinal Dysplasia		ISO	RGD:1350910	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30695021
1584682	Slbp	stem-loop histone mRNA binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584682	Slbp	stem-loop histone mRNA binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584685	Vps25	vacuolar protein sorting 25 homolog	gene	DOID:0080600	COVID-19		ISO	RGD:1603949	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1584685	Vps25	vacuolar protein sorting 25 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1603949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584685	Vps25	vacuolar protein sorting 25 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1603949	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584685	Vps25	vacuolar protein sorting 25 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584685	Vps25	vacuolar protein sorting 25 homolog	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603949	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: VPS25-related neurodevelopmental delay	PMID:25741868
1584685	Vps25	vacuolar protein sorting 25 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584694	Pmf1	polyamine-modulated factor 1	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1317520	D	RGD:30296651|PMID:19088041	20200611	RGD			
1584694	Pmf1	polyamine-modulated factor 1	gene	DOID:4007	bladder carcinoma	disease_progression	ISO	RGD:1317520	D	RGD:30296649|PMID:22682992	20200611	RGD			
1584694	Pmf1	polyamine-modulated factor 1	gene	DOID:9001620	Leukoaraiosis	susceptibility	ISO	RGD:1317520	D	RGD:30296652|PMID:31396257	20200611	RGD		DNA:SNP: :rs2984613(human)	
1584696	Grxcr2	glutaredoxin and cysteine rich domain containing 2	gene	DOID:0110462	autosomal recessive nonsyndromic deafness 101		ISO	RGD:2301277	D	RGD:7240710	20170308	OMIM			
1584696	Grxcr2	glutaredoxin and cysteine rich domain containing 2	gene	DOID:0110462	autosomal recessive nonsyndromic deafness 101		ISO	RGD:2301277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 101 | ClinVar Annotator: match by term: GRXCR2-related condition	PMID:25741868|PMID:26467025|PMID:28492532
1584707	Prelid2	PRELI domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584707	Prelid2	PRELI domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606141	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584707	Prelid2	PRELI domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584707	Prelid2	PRELI domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584707	Prelid2	PRELI domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1584707	Prelid2	PRELI domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1584707	Prelid2	PRELI domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584707	Prelid2	PRELI domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1584707	Prelid2	PRELI domain containing 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606141	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
1584711	Prss41	serine protease 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2301124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584713	Snrpg	small nuclear ribonucleoprotein polypeptide G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584713	Snrpg	small nuclear ribonucleoprotein polypeptide G	gene	DOID:1324	lung cancer		ISO	RGD:1353294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584713	Snrpg	small nuclear ribonucleoprotein polypeptide G	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1353294	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1584713	Snrpg	small nuclear ribonucleoprotein polypeptide G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584713	Snrpg	small nuclear ribonucleoprotein polypeptide G	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1353294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1584713	Snrpg	small nuclear ribonucleoprotein polypeptide G	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1353294	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
1584713	Snrpg	small nuclear ribonucleoprotein polypeptide G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584713	Snrpg	small nuclear ribonucleoprotein polypeptide G	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584713	Snrpg	small nuclear ribonucleoprotein polypeptide G	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1353294	D	RGD:10755709|PMID:24080422	20160203	RGD		mRNA:increased expression:nasopharynx (human)	
1584719	Coxfa4	cytochrome c oxidase associated subunit FA4	gene	DOID:0070506	mitochondrial complex IV deficiency nuclear type 21		ISO	RGD:1352480	D	RGD:7240710	20201111	OMIM			
1584719	Coxfa4	cytochrome c oxidase associated subunit FA4	gene	DOID:0070506	mitochondrial complex IV deficiency nuclear type 21		ISO	RGD:1352480	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 21 | ClinVar Annotator: match by term: NDUFA4-related condition	PMID:25741868|PMID:28492532
1584719	Coxfa4	cytochrome c oxidase associated subunit FA4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584719	Coxfa4	cytochrome c oxidase associated subunit FA4	gene	DOID:1324	lung cancer		ISO	RGD:1352480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584719	Coxfa4	cytochrome c oxidase associated subunit FA4	gene	DOID:3070	high grade glioma		ISO	RGD:1352480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1584719	Coxfa4	cytochrome c oxidase associated subunit FA4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584719	Coxfa4	cytochrome c oxidase associated subunit FA4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1584719	Coxfa4	cytochrome c oxidase associated subunit FA4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584720	Qsox2	quiescin sulfhydryl oxidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584720	Qsox2	quiescin sulfhydryl oxidase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584720	Qsox2	quiescin sulfhydryl oxidase 2	gene	DOID:1324	lung cancer		ISO	RGD:1316813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584720	Qsox2	quiescin sulfhydryl oxidase 2	gene	DOID:3275	thymoma		ISO	RGD:1316813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1584720	Qsox2	quiescin sulfhydryl oxidase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1584720	Qsox2	quiescin sulfhydryl oxidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584720	Qsox2	quiescin sulfhydryl oxidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584720	Qsox2	quiescin sulfhydryl oxidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584722	Paqr6	progestin and adipoQ receptor family member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1323634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584722	Paqr6	progestin and adipoQ receptor family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584722	Paqr6	progestin and adipoQ receptor family member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584722	Paqr6	progestin and adipoQ receptor family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:10534	stomach cancer		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:1115	sarcoma		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:1324	lung cancer		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:1909	melanoma		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:3275	thymoma		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:4362	cervical cancer		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603683	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584731	Smg5	SMG5 nonsense mediated mRNA decay factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584735	Bend4	BEN domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1605502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584735	Bend4	BEN domain containing 4	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605502	D	RGD:11554173	20210112	CTD		CTD Direct Evidence: marker/mechanism	PMID:28722770
1584735	Bend4	BEN domain containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1584735	Bend4	BEN domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584737	Spmip5	sperm microtubule inner protein 5	gene	DOID:303	substance-related disorder		ISO	RGD:1352905	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
1584737	Spmip5	sperm microtubule inner protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584739	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584739	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584739	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584739	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584739	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584739	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1584739	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584739	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1584739	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584739	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1584739	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584739	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:9002189	High Myopia		ISO	RGD:1353290	D	RGD:8554872	20190709	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
1584739	Paxbp1	PAX3 and PAX7 binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584755	Clec5a	C-type lectin domain containing 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584755	Clec5a	C-type lectin domain containing 5A	gene	DOID:12206	dengue hemorrhagic fever		ISO	RGD:1343085	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:18496526
1584755	Clec5a	C-type lectin domain containing 5A	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1343085	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
1584755	Clec5a	C-type lectin domain containing 5A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1584755	Clec5a	C-type lectin domain containing 5A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584802	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584802	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:732792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:15372108|PMID:17576681|PMID:19259137|PMID:25741868|PMID:28429146|PMID:28492532|PMID:30948790|PMID:31967322|PMID:33629572|PMID:35801790|PMID:38459834|PMID:9536098
1584802	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:0060536	mitochondrial complex I deficiency		ISS	RGD:737515	D	RGD:13592920	20230810	MouseDO		OMIM:252010	
1584802	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:0112073	nuclear type mitochondrial complex I deficiency 9		ISO	RGD:732792	D	RGD:7240710	20230809	OMIM			
1584802	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:0112073	nuclear type mitochondrial complex I deficiency 9		ISO	RGD:732792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 9 | ClinVar Annotator: match by term: NDUFS6-related condition	PMID:15372108|PMID:16199547|PMID:17576681|PMID:19259137|PMID:25741868|PMID:28429146|PMID:28492532|PMID:30948790|PMID:31967322|PMID:9536098
1584802	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:732792	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:28492532
1584802	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:10534	stomach cancer		ISO	RGD:732792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584802	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:1059	intellectual disability		ISO	RGD:732792	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868|PMID:28492532
1584802	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:4362	cervical cancer		ISO	RGD:732792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584802	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:4362	cervical cancer	disease_progression	ISO	RGD:732792	D	RGD:9068941	20230810	RGD		DNA, mRNA:amplification, increased expression:uterine cervix	PMID:18559093|REF_RGD_ID:2302384
1584802	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:630	genetic disease		ISO	RGD:732792	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15372108|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532
1584802	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584802	Ndufs6	NADH:ubiquinone oxidoreductase subunit S6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:0050888	syndromic intellectual disability		ISS	RGD:1316706	D	RGD:13592920	20180518	MouseDO		OMIM:300486 | OMIM:300860 | OMIM:309583	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:0060604	ankyloglossia		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis, type 1	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316705	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:12849	autistic disorder		ISO	RGD:1316705	D	RGD:8554872	20220118	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:1826	epilepsy		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: seizure	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:535	sleep disorder		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:630	genetic disease		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:27939640|PMID:28490743|PMID:29758562|PMID:32010779
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:630	genetic disease		ISO	RGD:1316705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:29758562|PMID:32010779
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316705	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9002914	Familial Sudden Death		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death in childhood	PMID:25741868|PMID:32652122|PMID:39837771
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9004108	Fused Kidney		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:25741868
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316705	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1316705	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9008892	Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis		ISO	RGD:1316705	D	RGD:7240710	20190315	OMIM			
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9008892	Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis		ISO	RGD:1316705	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRPF1-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis | ClinVar Annotator: match by term: intellectual developmental disorder with dysmorphic facies and ptosis	PMID:25741868|PMID:27939639|PMID:27939640|PMID:28492532|PMID:29758562|PMID:31020800|PMID:32010779|PMID:35243762|PMID:37190896|PMID:39837771
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584828	Brpf1	bromodomain and PHD finger containing, 1	gene	DOID:9970	obesity		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1584840	Barx2	BARX homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584840	Barx2	BARX homeobox 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584840	Barx2	BARX homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584840	Barx2	BARX homeobox 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0050691	branchiooculofacial syndrome		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Branchiooculofacial syndrome	PMID:30655312
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:17576681|PMID:19206155|PMID:28492532|PMID:30268946|PMID:9536098
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:17576681|PMID:19206155|PMID:28492532|PMID:30268946|PMID:9536098
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0060232	branchiootic syndrome		ISO	RGD:1317054	D	RGD:11554173	20201012	CTD		CTD Direct Evidence: marker/mechanism	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0060232	branchiootic syndrome		ISO	RGD:1317054	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRANCHIOOTIC DYSPLASIA | ClinVar Annotator: match by term: Branchiootic dysplasia | ClinVar Annotator: match by term: Branchiootic syndrome	PMID:10464653|PMID:10655545|PMID:10991693|PMID:11683347|PMID:11734542|PMID:12701758|PMID:15146463|PMID:15802522|PMID:16491411|PMID:16797546|PMID:18220287|PMID:18678597|PMID:19951260|PMID:22340499|PMID:22447252|PMID:22995991|PMID:23435380|PMID:23506628|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25741868|PMID:26467025|PMID:26489027|PMID:28492532|PMID:29307893|PMID:29500469|PMID:29966037|PMID:30476936|PMID:31049720|PMID:33240318|PMID:9020840|PMID:9361030
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:1317054	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANTERIOR SEGMENT ANOMALIES | ClinVar Annotator: match by term: ANTERIOR SEGMENT ANOMALIES AND CATARACT	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0061209	branchiootic syndrome 1		ISO	RGD:1317054	D	RGD:7240710	20200930	OMIM			
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0061209	branchiootic syndrome 1		ISO	RGD:1317054	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BO SYNDROME 1 | ClinVar Annotator: match by term: BO syndrome 1 | ClinVar Annotator: match by term: BRANCHIOOTIC SYNDROME 1 | ClinVar Annotator: match by term: Branchiootic syndrome 1	PMID:10464653|PMID:10655545|PMID:10991693|PMID:11683347|PMID:11734542|PMID:15802522|PMID:16491411|PMID:16691597|PMID:16797546|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19951260|PMID:21280147|PMID:22340499|PMID:23435380|PMID:23506628|PMID:23840632|PMID:23967202|PMID:24033266|PMID:24489909|PMID:25741868|PMID:26467025|PMID:26969326|PMID:28492532|PMID:29500469|PMID:31049720|PMID:31427586|PMID:33240318|PMID:35698919|PMID:9020840
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1317054	D	RGD:8554872	20200107	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:28492532
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:16813606|PMID:17576681|PMID:19206155|PMID:21280147|PMID:23840632|PMID:25741868|PMID:27657687|PMID:28492532|PMID:29552445|PMID:30086703|PMID:9536098
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1317054	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:10991693|PMID:24033266|PMID:25741868|PMID:31049720
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0111256	hyperferritinemia-cataract syndrome		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts	PMID:25741868
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0111423	branchiootorenal syndrome 1		ISO	RGD:1317054	D	RGD:7240710	20191106	OMIM			
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0111423	branchiootorenal syndrome 1		ISO	RGD:1317054	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRANCHIOOTORENAL SYNDROME 1 | ClinVar Annotator: match by term: Branchiootorenal syndrome 1	PMID:10464653|PMID:10655545|PMID:10710918|PMID:10991693|PMID:11683347|PMID:11734542|PMID:15802522|PMID:16199547|PMID:16491411|PMID:16691597|PMID:16797546|PMID:16813606|PMID:17576681|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19206155|PMID:19951260|PMID:21280147|PMID:22340499|PMID:23435380|PMID:23506628|PMID:23840632|PMID:23967202|PMID:24033266|PMID:24489909|PMID:25741868|PMID:26969326|PMID:27657687|PMID:28492532|PMID:29500469|PMID:29552445|PMID:30086703|PMID:30311386|PMID:31049720|PMID:33240318|PMID:33532864|PMID:8566479|PMID:9020840|PMID:9361030|PMID:9536098
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:0111428	essential tremor 1		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:17576681|PMID:19206155|PMID:28492532|PMID:30268946|PMID:9536098
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1317054	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1317054	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:10464653|PMID:16691597|PMID:18177466|PMID:18220287|PMID:21280147|PMID:25741868|PMID:26969326|PMID:28492532
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:12215	oligohydramnios		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anhydramnios	PMID:25741868|PMID:35005812
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1317054	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:10991693|PMID:24033266|PMID:25741868|PMID:31049720
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:1317054	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12834866
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:1317054	D	RGD:1598917|PMID:9361030	20061222	RGD			
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:1317054	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Branchio-oto-renal syndrome | ClinVar Annotator: match by term: Branchiootorenal syndrome | ClinVar Annotator: match by term: Melnick-Fraser syndrome	PMID:10429368|PMID:10464653|PMID:10655545|PMID:10991693|PMID:11683347|PMID:11734542|PMID:12404110|PMID:15146463|PMID:15802522|PMID:16199547|PMID:16441263|PMID:16491411|PMID:16691597|PMID:16797546|PMID:16813606|PMID:17364338|PMID:17576681|PMID:17637804|PMID:18065799|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19206155|PMID:19951260|PMID:20848651|PMID:21280147|PMID:22340499|PMID:22382802|PMID:22447252|PMID:23435380|PMID:23840632|PMID:23967202|PMID:24033266|PMID:24489909|PMID:25741868|PMID:26310487|PMID:26467025|PMID:26969326|PMID:27657687|PMID:2773990|PMID:28289595|PMID:28492532|PMID:28832562|PMID:29500469|PMID:29552445|PMID:30086703|PMID:30268946|PMID:30655312|PMID:30937553|PMID:31427586|PMID:32359821|PMID:33240318|PMID:34031707|PMID:34160378|PMID:35046468|PMID:35982127|PMID:36549658|PMID:8566479|PMID:9020840|PMID:9361030|PMID:9536098|PMID:9603436
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:1317054	D	RGD:8554880|PMID:17637804	20140512	RGD		DNA:deletion,mutations:exons, IVS:c.920delG, c.1773C>G(p.Y591X),IVS10-1G>A (1141-1G>A),IVS12+4A>G (c.1360+4A>G)(human)	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:14702	branchiootorenal syndrome		ISO	RGD:1317054	D	RGD:8554897|PMID:16491411	20140513	RGD		DNA:mutations:exons,introns:multiple	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:14702	branchiootorenal syndrome		ISS	RGD:1317055	D	RGD:13592920	20230718	MouseDO			
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1317054	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15493068
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:1826	epilepsy		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17576681|PMID:19206155|PMID:28492532|PMID:30268946|PMID:9536098
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:1909	melanoma		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:10464653|PMID:16691597|PMID:18177466|PMID:18220287|PMID:21280147|PMID:25741868|PMID:26969326|PMID:28492532
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317054	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:630	genetic disease		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10464653|PMID:10655545|PMID:11734542|PMID:15802522|PMID:16691597|PMID:16797546|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19951260|PMID:21280147|PMID:22340499|PMID:23435380|PMID:24033266|PMID:24489909|PMID:25741868|PMID:26969326|PMID:28492532
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1317054	D	RGD:8694159|PMID:23107834	20140725	RGD		mRNA:increased expression:muscle:	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9000096	Lung Agenesis		IEP		D	RGD:8554873|PMID:24528972	20140512	RGD		mRNA,protein:decreased expression:lung epithelium:	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9002601	Otofaciocervical Syndrome 1		ISO	RGD:1317054	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9002601	Otofaciocervical Syndrome 1		ISO	RGD:1317054	D	RGD:7240710	20130221	OMIM			
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9002601	Otofaciocervical Syndrome 1		ISO	RGD:1317054	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Otofaciocervical syndrome 1	PMID:10464653|PMID:10655545|PMID:10991693|PMID:11683347|PMID:11734542|PMID:15802522|PMID:16199547|PMID:16441263|PMID:16491411|PMID:16691597|PMID:16797546|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19951260|PMID:21280147|PMID:22340499|PMID:23435380|PMID:23506628|PMID:23967202|PMID:24033266|PMID:24489909|PMID:25741868|PMID:26310487|PMID:26467025|PMID:26969326|PMID:28492532|PMID:29500469|PMID:31049720|PMID:33240318|PMID:9020840
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:1317055	D	RGD:11561941|PMID:21364285	20221101	RGD			
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:17576681|PMID:19206155|PMID:28492532|PMID:30268946|PMID:9536098
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9003483	Conductive Hearing Loss		ISO	RGD:1317054	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10471511
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:10464653|PMID:16691597|PMID:18177466|PMID:18220287|PMID:21280147|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30311386
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:17576681|PMID:19206155|PMID:28492532|PMID:30268946|PMID:9536098
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:17576681|PMID:19206155|PMID:28492532|PMID:30268946|PMID:9536098
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:1317054	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10471511
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:16813606|PMID:17576681|PMID:19206155|PMID:21280147|PMID:23840632|PMID:25741868|PMID:27657687|PMID:28492532|PMID:29552445|PMID:30086703|PMID:9536098
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9006596	Cayler Cardiofacial Syndrome		ISO	RGD:1317054	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15493068
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:10464653|PMID:16691597|PMID:18177466|PMID:18220287|PMID:21280147|PMID:25741868|PMID:26969326|PMID:28492532
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10464653|PMID:16691597|PMID:18177466|PMID:18220287|PMID:21280147|PMID:25741868|PMID:26969326|PMID:28492532
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1317054	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10471511
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:16813606|PMID:17576681|PMID:19206155|PMID:21280147|PMID:23840632|PMID:25741868|PMID:27657687|PMID:28492532|PMID:29552445|PMID:30086703|PMID:9536098
1584849	Eya1	EYA transcriptional coactivator and phosphatase 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1317054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:17576681|PMID:19206155|PMID:28492532|PMID:30268946|PMID:9536098
1584883	Ppp1r12c	protein phosphatase 1, regulatory subunit 12C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584883	Ppp1r12c	protein phosphatase 1, regulatory subunit 12C	gene	DOID:10534	stomach cancer		ISO	RGD:1343542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584883	Ppp1r12c	protein phosphatase 1, regulatory subunit 12C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584883	Ppp1r12c	protein phosphatase 1, regulatory subunit 12C	gene	DOID:4362	cervical cancer		ISO	RGD:1343542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584883	Ppp1r12c	protein phosphatase 1, regulatory subunit 12C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343542	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1584883	Ppp1r12c	protein phosphatase 1, regulatory subunit 12C	gene	DOID:5041	esophageal cancer		ISO	RGD:1343542	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584883	Ppp1r12c	protein phosphatase 1, regulatory subunit 12C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584883	Ppp1r12c	protein phosphatase 1, regulatory subunit 12C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584883	Ppp1r12c	protein phosphatase 1, regulatory subunit 12C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:10534	stomach cancer		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:1115	sarcoma		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:1909	melanoma		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:3070	high grade glioma		ISO	RGD:1319346	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26829751
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:3213	demyelinating disease		ISO	RGD:1319346	D	RGD:11554173	20220607	CTD		CTD Direct Evidence: marker/mechanism	PMID:16245024
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:4362	cervical cancer		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:5041	esophageal cancer		ISO	RGD:1319346	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:6039	uveal melanoma		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IEP		D	RGD:10045997|PMID:22740327	20150630	RGD			
1584886	Qki	QKI, KH domain containing RNA binding	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584894	Tceanc	transcription elongation factor A N-terminal and central domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2303433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584894	Tceanc	transcription elongation factor A N-terminal and central domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2303433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584894	Tceanc	transcription elongation factor A N-terminal and central domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2303433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584898	Luzp4	leucine zipper protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584898	Luzp4	leucine zipper protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584901	Spin2b	spindlin family member 2B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1584914	Lsm10	LSM10, U7 small nuclear RNA associated	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1350873	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
1584914	Lsm10	LSM10, U7 small nuclear RNA associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584914	Lsm10	LSM10, U7 small nuclear RNA associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584950	Hira	histone cell cycle regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584950	Hira	histone cell cycle regulator	gene	DOID:0111081	Fanconi anemia complementation group T		ISO	RGD:1346310	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Fanconi anemia, complementation group T	PMID:25741868
1584950	Hira	histone cell cycle regulator	gene	DOID:10283	prostate cancer		ISO	RGD:1346310	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1584950	Hira	histone cell cycle regulator	gene	DOID:10283	prostate cancer		ISO	RGD:1346310	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1584950	Hira	histone cell cycle regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1584950	Hira	histone cell cycle regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584950	Hira	histone cell cycle regulator	gene	DOID:1115	sarcoma		ISO	RGD:1346310	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584950	Hira	histone cell cycle regulator	gene	DOID:1324	lung cancer		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584950	Hira	histone cell cycle regulator	gene	DOID:3070	high grade glioma		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1584950	Hira	histone cell cycle regulator	gene	DOID:3275	thymoma		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
1584950	Hira	histone cell cycle regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1584950	Hira	histone cell cycle regulator	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346310	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1584950	Hira	histone cell cycle regulator	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1584950	Hira	histone cell cycle regulator	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1584950	Hira	histone cell cycle regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346310	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
1584950	Hira	histone cell cycle regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1584950	Hira	histone cell cycle regulator	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1346310	D	RGD:401851914|PMID:27748330	20231031	RGD		mRNA,protein:decreased expression: myocardium :	
1584950	Hira	histone cell cycle regulator	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868|PMID:32075733|PMID:33417013|PMID:34074949
1584950	Hira	histone cell cycle regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
1584950	Hira	histone cell cycle regulator	gene	DOID:9003139	Cardiac Fibrosis	disease_progression	ISO	RGD:1556958	D	RGD:11354650|PMID:26935106	20231031	RGD			
1584950	Hira	histone cell cycle regulator	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25363760|PMID:25741868|PMID:33417013|PMID:38511226
1584950	Hira	histone cell cycle regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
1584950	Hira	histone cell cycle regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584950	Hira	histone cell cycle regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:1346310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1584958	Bend5	BEN domain containing 5	gene	DOID:10283	prostate cancer		ISO	RGD:1606228	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1584968	Cfap221	cilia and flagella associated protein 221	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584968	Cfap221	cilia and flagella associated protein 221	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584968	Cfap221	cilia and flagella associated protein 221	gene	DOID:0061226	primary ciliary dyskinesia 55		ISO	RGD:1606685	D	RGD:7240710	20250709	OMIM			
1584968	Cfap221	cilia and flagella associated protein 221	gene	DOID:0061226	primary ciliary dyskinesia 55		ISO	RGD:1606685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PRIMARY CILIARY DYSKINESIA 55 | ClinVar Annotator: match by term: Young syndrome	PMID:25741868|PMID:31636325
1584968	Cfap221	cilia and flagella associated protein 221	gene	DOID:10534	stomach cancer		ISO	RGD:1606685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584968	Cfap221	cilia and flagella associated protein 221	gene	DOID:1324	lung cancer		ISO	RGD:1606685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584968	Cfap221	cilia and flagella associated protein 221	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584968	Cfap221	cilia and flagella associated protein 221	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1584968	Cfap221	cilia and flagella associated protein 221	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584968	Cfap221	cilia and flagella associated protein 221	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584968	Cfap221	cilia and flagella associated protein 221	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:0050866	oral squamous cell carcinoma	severity	ISO	RGD:1342972	D	RGD:126925209|PMID:16676365	20210816	RGD		DNA:mutations	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1342972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:0060321	umbilical hernia		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868|PMID:28492532|PMID:32643838
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:0070113	Niemann-Pick disease type C1	treatment	ISO	RGD:1332211	D	RGD:10047095|PMID:18591368	20150708	RGD			
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:0070297	primary microcephaly		ISO	RGD:1342972	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:0080006	bone development disease		ISO	RGD:1342972	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28288113
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma	treatment	ISO	RGD:1342972	D	RGD:11038814|PMID:21481795	20160226	RGD			
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:1342972	D	RGD:11554173	20260407	CTD		CTD Direct Evidence: marker/mechanism	PMID:15604220|PMID:18673174|PMID:21908430|PMID:33070465
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1342972	D	RGD:126908003|PMID:31396300	20210524	RGD		human cells in mouse model; associated with mental depression; protein:increased expression, increased phosphorylation:stomach (human)	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1332211	D	RGD:8693570|PMID:19700222	20140716	RGD		protein:increased expression:brain:	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:10907	microcephaly		ISO	RGD:1342972	D	RGD:8554872	20210706	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:33223528
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:11476	osteoporosis		ISO	RGD:1332211	D	RGD:10047094|PMID:10700189	20150708	RGD			
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:14330	Parkinson's disease		IEP		D	RGD:8693592|PMID:24412932	20140716	RGD			
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:14330	Parkinson's disease		ISO	RGD:1332211	D	RGD:8693592|PMID:24412932	20140716	RGD		protein:increased expression:brain:	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:14330	Parkinson's disease		ISO	RGD:1342972	D	RGD:8693409|PMID:20823226	20140715	RGD		protein:increased phosphorylation:striatum:	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:14504	Niemann-Pick disease		ISO	RGD:1332211	D	RGD:8693571|PMID:20883783	20140716	RGD		protein:increased expression:cerebellum:	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:1596	depressive disorder		ISO	RGD:1332211	D	RGD:126908003|PMID:31396300	20210524	RGD		protein:increased expression, increased phosphorylation:hippocampus (mouse)	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:1682	congenital heart disease		ISO	RGD:1342972	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28288113
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:1682	congenital heart disease		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868|PMID:28288113
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:2841	asthma		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:20841568|PMID:28492532|PMID:33783941
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:299	adenocarcinoma		ISO	RGD:1342972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472143
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1342972	D	RGD:126925226|PMID:26758680	20210816	RGD		human cells in mouse model	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:4914	esophagus adenocarcinoma	onset	ISO	RGD:1342972	D	RGD:126925218|PMID:21472143	20210515	RGD		DNA:SNP:3'utr: (rs4740363) (human)	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342972	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1342972	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:5199	ureteral obstruction		IEP		D	RGD:8693572|PMID:15629889	20140716	RGD		protein:increased activity:kidney:	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342972	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:630	genetic disease		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:674	cleft palate		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:28492532
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1332211	D	RGD:126907997|PMID:32171747	20210506	RGD			
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532|PMID:32643838
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1342972	D	RGD:13674161|PMID:25133686	20180710	RGD		DNA:gene fusion	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1342972	D	RGD:14392796|PMID:12067277	20160226	RGD		DNA:gene fusion	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1342972	D	RGD:7240710	20190821	OMIM			
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1342972	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ABL1-related disorder | ClinVar Annotator: match by term: Chronic myeloid leukemia | ClinVar Annotator: match by term: LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB	PMID:20841568|PMID:25741868|PMID:27993330|PMID:28492532|PMID:33783941|PMID:36063163
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:8552	chronic myeloid leukemia	susceptibility	ISO	RGD:1342972	D	RGD:1598673|PMID:3021820	20061211	RGD			
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:8552	chronic myeloid leukemia	treatment	ISO	RGD:1342972	D	RGD:11038807|PMID:23289634	20160226	RGD		DNA:missense mutations: :multiple	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:8552	chronic myeloid leukemia	treatment	ISO	RGD:1342972	D	RGD:11038814|PMID:21481795	20160226	RGD			
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1342972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472143
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1342972	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28288113
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:32643838
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1342972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19878872
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9002867	Myeloid Leukemia, Chronic-Phase		ISO	RGD:1342972	D	RGD:11038811|PMID:11559572	20160226	RGD		DNA:hypermethylation:promoter	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9002867	Myeloid Leukemia, Chronic-Phase	disease_progression	ISO	RGD:1342972	D	RGD:11038809|PMID:19344397	20160226	RGD			
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9003507	Premature Birth		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:20841568|PMID:28492532|PMID:33783941
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9004222	congenital heart defects and skeletal malformations syndrome		ISO	RGD:1342972	D	RGD:7240710	20200910	OMIM			
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9004222	congenital heart defects and skeletal malformations syndrome		ISO	RGD:1342972	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABL1-related condition | ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | ClinVar Annotator: match by term: Congenital heart defects and skeletal malformations syndrome | ClinVar Annotator: match by term: congenital heart defects and skeletal malformations syndrome	PMID:11753652|PMID:16912036|PMID:20841568|PMID:25741868|PMID:28288113|PMID:28492532|PMID:32643838|PMID:33223528|PMID:33783941
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1342972	D	RGD:8554872	20201208	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9005004	Musculoskeletal Abnormalities		ISO	RGD:1342972	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28288113
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1342972	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1342972	D	RGD:11554173	20191029	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9007661	Dwarfism		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:20841568|PMID:28492532|PMID:33783941
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9007702	Carcinogenesis		ISO	RGD:1342972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23968727
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9008023	Memory Disorders	treatment	IMP		D	RGD:8693418|PMID:18559370	20140715	RGD			
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:1332211	D	RGD:8693418|PMID:18559370	20140715	RGD			
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9008385	Vomiting		ISO	RGD:1342972	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9008582	Developmental Disease		ISO	RGD:1342972	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1342972	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20234815
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342972	D	RGD:10450603|PMID:12161353	20160119	RGD		DNA:translocation: :	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1342972	D	RGD:126908002|PMID:32850446	20210506	RGD		human gene in mouse model	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1342972	D	RGD:126908002|PMID:32850446	20210506	RGD		mRNA, protein:increased expression:colorectum (human)	
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9834	hyperopia		ISO	RGD:1342972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:20841568|PMID:28492532|PMID:33783941
1584969	Abl1	ABL proto-oncogene 1, non-receptor tyrosine kinase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1342972	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:11984797|PMID:21898527
1584973	Plxna3	plexin A3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1584973	Plxna3	plexin A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584973	Plxna3	plexin A3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1584973	Plxna3	plexin A3	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia	PMID:25741868|PMID:28492532
1584973	Plxna3	plexin A3	gene	DOID:10534	stomach cancer		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584973	Plxna3	plexin A3	gene	DOID:1115	sarcoma		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584973	Plxna3	plexin A3	gene	DOID:12849	autistic disorder		ISO	RGD:1349180	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: NLGN1-related condition	PMID:25741868
1584973	Plxna3	plexin A3	gene	DOID:1324	lung cancer		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584973	Plxna3	plexin A3	gene	DOID:1909	melanoma		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1584973	Plxna3	plexin A3	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:28492532
1584973	Plxna3	plexin A3	gene	DOID:1923	disorder of sexual development		ISO	RGD:1349180	D	RGD:8554872	20210907	ClinVar		ClinVar Annotator: match by term: Disorder of sexual differentiation	
1584973	Plxna3	plexin A3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1584973	Plxna3	plexin A3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1584973	Plxna3	plexin A3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1584973	Plxna3	plexin A3	gene	DOID:4362	cervical cancer		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584973	Plxna3	plexin A3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1584973	Plxna3	plexin A3	gene	DOID:5041	esophageal cancer		ISO	RGD:1349180	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584973	Plxna3	plexin A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584973	Plxna3	plexin A3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1584973	Plxna3	plexin A3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1584973	Plxna3	plexin A3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1584973	Plxna3	plexin A3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349180	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1584973	Plxna3	plexin A3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing Loss	
1584973	Plxna3	plexin A3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1584973	Plxna3	plexin A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584973	Plxna3	plexin A3	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1349180	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Childhood-onset schizophrenia	PMID:26508570
1584973	Plxna3	plexin A3	gene	DOID:9007661	Dwarfism		ISO	RGD:1349180	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Short stature	
1584973	Plxna3	plexin A3	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1349180	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:21933904
1584973	Plxna3	plexin A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
1584973	Plxna3	plexin A3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584973	Plxna3	plexin A3	gene	DOID:9256	colorectal cancer		ISO	RGD:1349180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1584977	Ets2	ETS proto-oncogene 2, transcription factor	gene	DOID:10534	stomach cancer		ISO	RGD:1352353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584977	Ets2	ETS proto-oncogene 2, transcription factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1584977	Ets2	ETS proto-oncogene 2, transcription factor	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1352353	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
1584977	Ets2	ETS proto-oncogene 2, transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:1352353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1584977	Ets2	ETS proto-oncogene 2, transcription factor	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1352353	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19522546
1584977	Ets2	ETS proto-oncogene 2, transcription factor	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1352353	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19764029
1584977	Ets2	ETS proto-oncogene 2, transcription factor	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352353	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1349356	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:18674751|PMID:23150559|PMID:23153492|PMID:25741868|PMID:26092869|PMID:27153923|PMID:28492532|PMID:31846650|PMID:34447983
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1349356	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:18674751|PMID:23150559|PMID:23153492|PMID:25741868|PMID:26092869|PMID:27153923|PMID:28492532|PMID:29255182|PMID:31846650|PMID:34447983
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1349356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:18674751|PMID:23153492|PMID:25741868|PMID:27153923|PMID:27894351|PMID:28492532|PMID:31846650
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:0080074	neural tube defect		ISO	RGD:1557633	D	RGD:11553935|PMID:17488627	20161018	RGD		DNA:transversion:intron:IVS2+2T>G (mouse)	
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1349356	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 1	PMID:25741868|PMID:28492532
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:0111003	Joubert syndrome 8		ISO	RGD:1349356	D	RGD:11553937|PMID:18674751	20161018	RGD		DNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human)	
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:0111003	Joubert syndrome 8		ISO	RGD:1349356	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:0111003	Joubert syndrome 8		ISO	RGD:1349356	D	RGD:7240710	20130221	OMIM			
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:0111003	Joubert syndrome 8		ISO	RGD:1349356	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARL13B-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 8 | ClinVar Annotator: match by term: Joubert syndrome 8	PMID:16199547|PMID:17576681|PMID:18674751|PMID:23150559|PMID:23153492|PMID:24033266|PMID:24168557|PMID:25138100|PMID:25741868|PMID:26092869|PMID:27153923|PMID:28492532|PMID:28787594|PMID:29255182|PMID:34447983|PMID:35858853|PMID:9536098
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:1324	lung cancer		ISO	RGD:1349356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:2843	long QT syndrome		ISO	RGD:1349356	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:28492532
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:2975	cystic kidney disease		ISO	RGD:1557633	D	RGD:11553938|PMID:27153923	20161018	RGD			
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:630	genetic disease		ISO	RGD:1349356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:9256	colorectal cancer		ISO	RGD:1349356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
1584979	Arl13b	ARF like GTPase 13B	gene	DOID:9970	obesity		ISO	RGD:1557633	D	RGD:11553936|PMID:22581473	20161018	RGD		protein:decreased expression:hypothalamus, cilium (mouse)	
1584991	Crygb	crystallin, gamma B	gene	DOID:0110236	cataract 39 multiple types		ISO	RGD:1347974	D	RGD:7240710	20140911	OMIM			
1584991	Crygb	crystallin, gamma B	gene	DOID:0110236	cataract 39 multiple types		ISS	RGD:10407	D	RGD:13592920	20230718	MouseDO		OMIM:615188	
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312545	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: autism spectrum disorder	PMID:25741868
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:10534	stomach cancer		ISO	RGD:1312545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:1115	sarcoma		ISO	RGD:1312545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:1324	lung cancer		ISO	RGD:1312545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1312545	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:5419	schizophrenia		ISO	RGD:1312545	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312545	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584992	Pard3b	par-3 family cell polarity regulator beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:0050581	brachydactyly		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:0050902	medulloblastoma		ISO	RGD:1344499	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:0060464	Feingold syndrome		ISO	RGD:1344499	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19852433|PMID:21532573
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:0060464	Feingold syndrome		ISO	RGD:1344499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Feingold syndrome | ClinVar Annotator: match by term: ODED SYNDROME	PMID:15821734|PMID:18470948|PMID:25741868|PMID:30655312|PMID:33057194|PMID:33442900|PMID:35982159
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1344499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	PMID:15821734|PMID:18470948|PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1344499	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:0080216	duodenal atresia		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duodenal atresia	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:10485	esophageal atresia		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia | ClinVar Annotator: match by term: esophageal atresia	PMID:15821734|PMID:25741868|PMID:28492532|PMID:33442900
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:1059	intellectual disability		ISO	RGD:1344499	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:10907	microcephaly		ISO	RGD:1344499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:15821734|PMID:18470948|PMID:25741868|PMID:30655312
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:12849	autistic disorder		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:1657	ventricular septal defect		ISO	RGD:1344499	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:1826	epilepsy		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:2154	nephroblastoma		ISO	RGD:1344499	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:2234	focal epilepsy		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1344499	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26950094
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1344499	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:28671688
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:630	genetic disease		ISO	RGD:1344499	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15821734|PMID:16906565|PMID:18470948|PMID:18671284|PMID:21224895|PMID:25741868|PMID:28492532
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1344499	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:769	neuroblastoma		ISO	RGD:1344499	D	RGD:11554173	20231205	CTD		CTD Direct Evidence: marker/mechanism	PMID:16051641|PMID:16989911|PMID:17283129|PMID:18353067|PMID:22286764|PMID:22789543|PMID:23042116|PMID:23334666|PMID:23500671|PMID:25174395|PMID:26523776|PMID:26733615|PMID:29379199|PMID:30127528|PMID:37246217
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9000343	Vision Disorders		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9001031	Retrognathia		ISO	RGD:1344499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:15821734|PMID:18470948|PMID:25741868|PMID:30655312
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9001224	Striae Distensae		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9001510	Funnel Chest		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1344499	D	RGD:11554173	20231205	CTD		CTD Direct Evidence: marker/mechanism	PMID:37246217
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9002221	Hyperplasia		ISO	RGD:1344499	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25174395
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9003133	Hypertelorism		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9003507	Premature Birth		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9004814	Chromosome Aberrations		ISO	RGD:1344499	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25174395
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9004844	Feingold Syndrome 1		ISO	RGD:1344499	D	RGD:7240710	20180704	OMIM			
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9004844	Feingold Syndrome 1		ISO	RGD:1344499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FEINGOLD SYNDROME 1 | ClinVar Annotator: match by term: Feingold syndrome 1 | ClinVar Annotator: match by term: MYCN-related condition	PMID:18470948|PMID:25741868|PMID:28492532
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9005749	Necrosis		ISO	RGD:1344499	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21214410
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1344499	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22286764
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1344499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:15821734|PMID:18470948|PMID:25741868|PMID:30655312
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9008200	Megalencephaly-Polydactyly Syndrome		ISO	RGD:1344499	D	RGD:7240710	20240320	OMIM			
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9008200	Megalencephaly-Polydactyly Syndrome		ISO	RGD:1344499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome	PMID:15821734|PMID:18470948|PMID:25741868|PMID:28492532|PMID:33057194|PMID:33442900|PMID:35982159
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
1584995	Mycn	MYCN proto-oncogene, bHLH transcription factor	gene	DOID:9840	esotropia		ISO	RGD:1344499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1350248	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12851857
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1350248	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)	PMID:25741868|PMID:28492532
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0080377	peroxisomal biogenesis disorder		ISO	RGD:1350248	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12851857
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0080482	peroxisome biogenesis disorder 7A		ISO	RGD:1350248	D	RGD:7240710	20140911	OMIM			
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0080482	peroxisome biogenesis disorder 7A		ISO	RGD:1350248	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger)	PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:17576681|PMID:19105186|PMID:21031596|PMID:25640679|PMID:25741868|PMID:27392320|PMID:28492532|PMID:28823628|PMID:28944237|PMID:29947050|PMID:30446579|PMID:32140910|PMID:9536098
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0080623	Heimler syndrome 1		ISO	RGD:1350248	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Heimler syndrome	PMID:28492532|PMID:33926089
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0081436	Peroxisome biogenesis disorder 7B		ISO	RGD:1350248	D	RGD:7240710	20140911	OMIM			
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:0081436	Peroxisome biogenesis disorder 7B		ISO	RGD:1350248	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 7B | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7B	PMID:12851857|PMID:15542397|PMID:15858711|PMID:16257970|PMID:21031596|PMID:25016021|PMID:25741868|PMID:28492532|PMID:28944237|PMID:30446579|PMID:32140910
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:1350248	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12851857
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:1115	sarcoma		ISO	RGD:1350248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:1826	epilepsy		ISO	RGD:1350248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:12851857|PMID:16257970|PMID:19877282|PMID:21031596|PMID:25741868|PMID:28492532
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:5723	optic atrophy		ISO	RGD:1350248	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:630	genetic disease		ISO	RGD:1350248	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:8501	fundus dystrophy		ISO	RGD:1350248	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
1584998	Pex26	peroxisomal biogenesis factor 26	gene	DOID:905	Zellweger syndrome		ISO	RGD:1350248	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:12851857|PMID:26319495
1585012	Osm	oncostatin M	gene	DOID:0070062	Arboleda-Tham syndrome		ISO	RGD:69134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	PMID:25741868
1585012	Osm	oncostatin M	gene	DOID:0080600	COVID-19		ISO	RGD:69134	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1585012	Osm	oncostatin M	gene	DOID:2773	contact dermatitis		ISO	RGD:69134	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
1585012	Osm	oncostatin M	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:69134	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:24979617
1585012	Osm	oncostatin M	gene	DOID:4362	cervical cancer		ISO	RGD:69134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585012	Osm	oncostatin M	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:69134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1585012	Osm	oncostatin M	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:69134	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1585012	Osm	oncostatin M	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:69134	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937440
1585012	Osm	oncostatin M	gene	DOID:9001341	Chloracne		ISO	RGD:69134	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
1585012	Osm	oncostatin M	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:69134	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:17640959
1585012	Osm	oncostatin M	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585015	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1607015	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:28317099|PMID:31230720
1585015	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2		ISO	RGD:1607015	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1585015	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2		ISO	RGD:1607015	D	RGD:7240710	20200805	OMIM			
1585015	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2		ISO	RGD:1607015	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type | ClinVar Annotator: match by term: ERGIC1-related condition	PMID:25741868
1585015	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:10534	stomach cancer		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585015	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:1324	lung cancer		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585015	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:3070	high grade glioma		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1585015	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:3275	thymoma		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585015	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:4362	cervical cancer		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585015	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1607015	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585015	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585015	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1585015	Ergic1	endoplasmic reticulum-golgi intermediate compartment 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585016	Adam22	ADAM metallopeptidase domain 22	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585016	Adam22	ADAM metallopeptidase domain 22	gene	DOID:0080434	developmental and epileptic encephalopathy 61		ISO	RGD:1352892	D	RGD:7240710	20190315	OMIM			
1585016	Adam22	ADAM metallopeptidase domain 22	gene	DOID:0080434	developmental and epileptic encephalopathy 61		ISO	RGD:1352892	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADAM22-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 61 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 61	PMID:25741868|PMID:28492532
1585016	Adam22	ADAM metallopeptidase domain 22	gene	DOID:10534	stomach cancer		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585016	Adam22	ADAM metallopeptidase domain 22	gene	DOID:1324	lung cancer		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585016	Adam22	ADAM metallopeptidase domain 22	gene	DOID:1909	melanoma		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585016	Adam22	ADAM metallopeptidase domain 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585016	Adam22	ADAM metallopeptidase domain 22	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1585016	Adam22	ADAM metallopeptidase domain 22	gene	DOID:630	genetic disease		ISO	RGD:1352892	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1585016	Adam22	ADAM metallopeptidase domain 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585016	Adam22	ADAM metallopeptidase domain 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:0060058	lymphoma		ISO	RGD:735923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:1115	sarcoma		ISO	RGD:735923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:1682	congenital heart disease		ISO	RGD:735924	D	RGD:1559267|PMID:14673146	20070410	RGD			
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:735923	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:1909	melanoma		ISO	RGD:735923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:3275	thymoma		ISO	RGD:735923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:735923	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:4362	cervical cancer		ISO	RGD:735923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:5199	ureteral obstruction		ISO	RGD:735924	D	RGD:13703030|PMID:24103556	20180726	RGD			
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:735923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585017	Adam19	ADAM metallopeptidase domain 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348543	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1		ISO	RGD:1348543	D	RGD:11061906|PMID:26373698	20221118	RGD		DNA:frameshift mutations, missense mutations:CDS:multiple (human)	
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1		ISO	RGD:1348543	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:20004762|PMID:20842734
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1		ISO	RGD:1348543	D	RGD:155663488|PMID:20004762	20221118	RGD		DNA:missense mutations, deletion:CDS:multiple (human)	
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1		ISO	RGD:1348543	D	RGD:7240710	20130221	OMIM			
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1		ISO	RGD:1348543	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS | ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: CHST14-related condition | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1	PMID:10766984|PMID:20004762|PMID:20533528|PMID:21744491|PMID:25348902|PMID:25741868|PMID:26373698|PMID:26872206|PMID:26925854|PMID:28238810|PMID:28306225|PMID:28346368|PMID:28492532|PMID:31905796|PMID:32629534|PMID:34815299|PMID:35464846
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1		ISS	RGD:1619123	D	RGD:13592920	20260625	MouseDO		OMIM:601776	
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:11836	clubfoot		ISO	RGD:1348543	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20004762
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1348543	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:25741868|PMID:28492532
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:9001553	Spinal Cord Compression	exacerbates	ISO	RGD:1619123	D	RGD:155663489|PMID:26586562	20221118	RGD			
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1348543	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:9004014	Adducted Thumbs Syndrome		ISO	RGD:1348543	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20004762
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1348543	D	RGD:11554173	20180116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:9005077	Joint Instability		ISO	RGD:1348543	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20842734
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348543	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20842734
1585023	Chst14	carbohydrate sulfotransferase 14	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1348543	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20842734
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:10283	prostate cancer		ISO	RGD:1316768	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:10534	stomach cancer		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:1115	sarcoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:11830	myopia		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:1247	blood coagulation disease		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:12849	autistic disorder		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:1324	lung cancer		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:2030	anxiety disorder		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:2661	myoepithelioma		ISO	RGD:1316768	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:3275	thymoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:4362	cervical cancer		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:5041	esophageal cancer		ISO	RGD:1316768	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1316768	D	RGD:8554872	20181206	ClinVar		ClinVar Annotator: match by term: Mitochondrial diseases	PMID:30201738
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:9007661	Dwarfism		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:9008421	Epistaxis		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	
1585024	Oxa1l	OXA1L mitochondrial inner membrane insertase	gene	DOID:9256	colorectal cancer		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1585037	Psrc1	proline and serine rich coiled-coil 1	gene	DOID:1324	lung cancer		ISO	RGD:1606488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585037	Psrc1	proline and serine rich coiled-coil 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1585037	Psrc1	proline and serine rich coiled-coil 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1606488	D	RGD:11554173	20220308	CTD		CTD Direct Evidence: marker/mechanism	PMID:34961328
1585037	Psrc1	proline and serine rich coiled-coil 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585037	Psrc1	proline and serine rich coiled-coil 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1585037	Psrc1	proline and serine rich coiled-coil 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606488	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351476	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:9004890	Paranoid Disorders		ISO	RGD:1351476	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:9004890	Paranoid Disorders	susceptibility	ISO	RGD:1351476	D	RGD:401851917|PMID:18438686	20231031	RGD		associated with cocaine dependence;DNA:SNP:: (rs936013) (human)	
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1351476	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
1585038	Ice2	interactor of little elongation complex ELL subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585055	Mansc4	MANSC domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:5132067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585055	Mansc4	MANSC domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:5132067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585063	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:0050144	Kartagener syndrome		ISS	RGD:1617356	D	RGD:13592920	20180518	MouseDO			
1585063	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585063	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1617356	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1585063	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:0061123	visceral heterotaxy 14		ISO	RGD:1606706	D	RGD:7240710	20250205	OMIM			
1585063	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:0061123	visceral heterotaxy 14		ISO	RGD:1606706	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 14, AUTOSOMAL | ClinVar Annotator: match by term: Heterotaxy, visceral, 14, autosomal	PMID:25741868|PMID:34768622|PMID:39753129
1585063	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1585063	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585063	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:9562	primary ciliary dyskinesia		ISS	RGD:1617356	D	RGD:13592920	20180518	MouseDO			
1585063	Ciroz	ciliated left-right organizer protein containing ZP-N domains	gene	DOID:9565	dextrocardia		ISS	RGD:1617356	D	RGD:13592920	20250403	MouseDO			
1585082	Septin6	septin 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585082	Septin6	septin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585082	Septin6	septin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585082	Septin6	septin 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585082	Septin6	septin 6	gene	DOID:1909	melanoma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585082	Septin6	septin 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1585082	Septin6	septin 6	gene	DOID:3070	high grade glioma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1585082	Septin6	septin 6	gene	DOID:3275	thymoma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585082	Septin6	septin 6	gene	DOID:4362	cervical cancer		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585082	Septin6	septin 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1316585	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585082	Septin6	septin 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1585082	Septin6	septin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585082	Septin6	septin 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585082	Septin6	septin 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585082	Septin6	septin 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:0060249	scoliosis		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:0081206	autosomal recessive intellectual developmental disorder 41		ISO	RGD:1319620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 41	PMID:25741868|PMID:39978342
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:10283	prostate cancer		ISO	RGD:1319620	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:10283	prostate cancer		ISO	RGD:1319620	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:1059	intellectual disability		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:39696819|PMID:39978342
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:1115	sarcoma		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:1596	depressive disorder		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:1826	epilepsy		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:1909	melanoma		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:2030	anxiety disorder		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:3275	thymoma		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1319620	D	RGD:11554173	20200407	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1319620	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9000495	Tremor		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9000966	Night Terror		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep terror	PMID:25741868
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1319620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868|PMID:39978342
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9001722	Dysarthria		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1319620	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:16038780
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9003816	Macrocephaly		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532|PMID:39696819|PMID:39978342
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9003882	Chromosomal Instability		ISO	RGD:1319620	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25772433
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319620	D	RGD:8554872	20190806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9004866	Ataxia		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:25741868
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:28492532|PMID:39696819|PMID:39978342
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1319620	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25772433
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9009342	Houge-Janssens Syndrome 4		ISO	RGD:1319620	D	RGD:7240710	20250529	OMIM			
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9009342	Houge-Janssens Syndrome 4		ISO	RGD:1319620	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HOUGE-JANSSENS SYNDROME 4 | ClinVar Annotator: match by term: Houge-Janssens syndrome 4 | ClinVar Annotator: match by term: PPP2R5C-related disorder	PMID:25741868|PMID:25972378|PMID:28492532|PMID:39696819|PMID:39978342
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9649	congenital nystagmus		ISO	RGD:1319620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:25741868
1585097	Ppp2r5c	protein phosphatase 2, regulatory subunit B', gamma	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1319620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:39978342
1585098	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585098	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585098	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:0080600	COVID-19		ISO	RGD:1605526	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1585098	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585098	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:14330	Parkinson's disease		ISO	RGD:1605526	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:25475535
1585098	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:3070	high grade glioma		ISO	RGD:1605526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1585098	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585098	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585098	Draxin	dorsal inhibitory axon guidance protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585106	Lrrc39	leucine rich repeat containing 39	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585106	Lrrc39	leucine rich repeat containing 39	gene	DOID:1909	melanoma		ISO	RGD:1606975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585106	Lrrc39	leucine rich repeat containing 39	gene	DOID:3070	high grade glioma		ISO	RGD:1606975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1585106	Lrrc39	leucine rich repeat containing 39	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1585106	Lrrc39	leucine rich repeat containing 39	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1585106	Lrrc39	leucine rich repeat containing 39	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585106	Lrrc39	leucine rich repeat containing 39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585106	Lrrc39	leucine rich repeat containing 39	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585107	Tmem202	transmembrane protein 202	gene	DOID:3275	thymoma		ISO	RGD:2289768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585128	Bcl7a	BAF chromatin remodeling complex subunit BCL7A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585128	Bcl7a	BAF chromatin remodeling complex subunit BCL7A	gene	DOID:10534	stomach cancer		ISO	RGD:1319851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585128	Bcl7a	BAF chromatin remodeling complex subunit BCL7A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585128	Bcl7a	BAF chromatin remodeling complex subunit BCL7A	gene	DOID:1115	sarcoma		ISO	RGD:1319851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585128	Bcl7a	BAF chromatin remodeling complex subunit BCL7A	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1319851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
1585128	Bcl7a	BAF chromatin remodeling complex subunit BCL7A	gene	DOID:1909	melanoma		ISO	RGD:1319851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585128	Bcl7a	BAF chromatin remodeling complex subunit BCL7A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1585128	Bcl7a	BAF chromatin remodeling complex subunit BCL7A	gene	DOID:5041	esophageal cancer		ISO	RGD:1319851	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585128	Bcl7a	BAF chromatin remodeling complex subunit BCL7A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585128	Bcl7a	BAF chromatin remodeling complex subunit BCL7A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585134	Tex38	testis expressed 38	gene	DOID:1115	sarcoma		ISO	RGD:2298822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868|PMID:36479642
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:0050585	congenital generalized lipodystrophy		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized lipodystrophy	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:0051104	acrofrontofacionasal dysostosis 3		ISO	RGD:1604810	D	RGD:7240710	20260805	OMIM			
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:0051104	acrofrontofacionasal dysostosis 3		ISO	RGD:1604810	D	RGD:8554872	20260804	ClinVar		ClinVar Annotator: match by term: ACROFRONTOFACIONASAL DYSOSTOSIS 3	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:0060058	lymphoma		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:0080010	bone structure disease		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of bone mineral density	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:0080716	infantile liver failure syndrome		ISO	RGD:1604810	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Infantile liver failure syndrome	PMID:24033266|PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532|PMID:31761904
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:0080778	transient infantile liver failure		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT	PMID:16199547|PMID:24033266|PMID:25741868|PMID:26073778|PMID:26286438|PMID:26541327|PMID:26578240|PMID:27789416|PMID:28031453|PMID:28410752|PMID:28492532|PMID:28576691|PMID:31761904|PMID:31964843|PMID:34906502
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:1059	intellectual disability		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:10908	hydrocephalus		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:1324	lung cancer		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:13399	color blindness		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Color vision defect	PMID:25741868
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	PMID:24033266|PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532|PMID:31761904
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1604810	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:1891	optic nerve disease		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology | ClinVar Annotator: match by term: Optic neuropathy	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:1909	melanoma		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:3275	thymoma		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:420	hypertrichosis		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:4362	cervical cancer		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:4989	pancreatitis		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatitis	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1604810	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:5419	schizophrenia		ISO	RGD:1604810	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:5679	retinal disease		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:5723	optic atrophy		ISO	RGD:1604810	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532|PMID:35902954
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:630	genetic disease		ISO	RGD:1604810	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33542026
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:8501	fundus dystrophy		ISO	RGD:1604810	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532|PMID:31761904|PMID:3196484|PMID:35433172
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1604810	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9000343	Vision Disorders		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9000918	Disease Progression		ISO	RGD:1604810	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9001031	Retrognathia		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:26073778|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9002596	Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly		ISO	RGD:1604810	D	RGD:7240710	20140911	OMIM			
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9002596	Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly		ISO	RGD:1604810	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NBAS-related condition | ClinVar Annotator: match by term: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532|PMID:28576691|PMID:31761904|PMID:33542026|PMID:33707149|PMID:34288298|PMID:35327467|PMID:9536098
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:1604810	D	RGD:8554872	20201110	ClinVar		ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	PMID:25741868
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9004327	Colpocephaly		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1604810	D	RGD:25671408|PMID:26541327	20200427	RGD		DNA:mutations:multiple	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9004866	Ataxia		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9004898	Jaundice		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice | ClinVar Annotator: match by term: jaundice	PMID:25741868
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9005077	Joint Instability		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:26073778|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:26073778|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9005616	Micrognathism		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:25741868|PMID:26073778|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30825388|PMID:31761904|PMID:33042920|PMID:39369972|PMID:9536098
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9007272	Infantile Liver Failure Syndrome 2		ISO	RGD:1604810	D	RGD:7240710	20171011	OMIM			
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9007272	Infantile Liver Failure Syndrome 2		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INFANTILE LIVER FAILURE SYNDROME 2 | ClinVar Annotator: match by term: Infantile liver failure syndrome 2	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26073778|PMID:26286438|PMID:26541327|PMID:26578240|PMID:27789416|PMID:28031453|PMID:28252636|PMID:28410752|PMID:28492532|PMID:28576691|PMID:30558828|PMID:30825388|PMID:31761904|PMID:31964843|PMID:31965297|PMID:32313153|PMID:32768688|PMID:32805445|PMID:32957979|PMID:33042920|PMID:34298581|PMID:34386911|PMID:34906502|PMID:35327467|PMID:38244286|PMID:39369972|PMID:9536098
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30825388|PMID:31761904|PMID:33042920|PMID:39369972|PMID:9536098
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9007573	Flatfoot		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9007661	Dwarfism		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9007874	Liver Failure		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:25741868|PMID:26073778|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26073778|PMID:26286438|PMID:26541327|PMID:26578240|PMID:27789416|PMID:28031453|PMID:28410752|PMID:28492532|PMID:28576691|PMID:31964843|PMID:34906502
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9256	colorectal cancer		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:936	brain disease		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
1585140	Nbas	NBAS subunit of NRZ tethering complex	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1604810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532
1585145	Tatdn1	TatD DNase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585145	Tatdn1	TatD DNase domain containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1585145	Tatdn1	TatD DNase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585145	Tatdn1	TatD DNase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585145	Tatdn1	TatD DNase domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1585145	Tatdn1	TatD DNase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1585145	Tatdn1	TatD DNase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585145	Tatdn1	TatD DNase domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1585145	Tatdn1	TatD DNase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313148	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
1585145	Tatdn1	TatD DNase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585145	Tatdn1	TatD DNase domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1585145	Tatdn1	TatD DNase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:0050589	inflammatory bowel disease	treatment	ISO	RGD:1350168	D	RGD:11038726|PMID:17026564	20160223	RGD			
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1350168	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:0061004	poor metabolism of thiopurines 1		ISO	RGD:1350168	D	RGD:7240710	20190327	OMIM			
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:0061004	poor metabolism of thiopurines 1		ISO	RGD:1350168	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: THIOPURINES, POOR METABOLISM OF, 1 | ClinVar Annotator: match by term: TPMT-related condition	PMID:23400745|PMID:25741868
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:0080172	poor metabolism of thiopurines		ISO	RGD:1350168	D	RGD:11554173	20190402	CTD		CTD Direct Evidence: marker/mechanism	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:0080172	poor metabolism of thiopurines		ISS	RGD:1552535	D	RGD:13592920	20230718	MouseDO		OMIM:610460	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:1227	neutropenia		ISO	RGD:1350168	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18662289
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1350168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1350168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1350168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:615	leukopenia		ISO	RGD:1350168	D	RGD:11038721|PMID:16044099	20160223	RGD			
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:615	leukopenia		ISO	RGD:1350168	D	RGD:11038725|PMID:24322830	20160223	RGD			
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:615	leukopenia		ISO	RGD:1350168	D	RGD:11038727|PMID:20308917	20160223	RGD		DNA:SNP:exon:719A>G (human)	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:615	leukopenia		ISO	RGD:1350168	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18662289|PMID:22535280|PMID:25108385
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:615	leukopenia	no_association	ISO	RGD:1350168	D	RGD:11038727|PMID:20308917	20160223	RGD		DNA:polymorphisms: :multiple	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1350168	D	RGD:11038722|PMID:24121523	20160223	RGD			
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:987	alopecia		ISO	RGD:1350168	D	RGD:11038725|PMID:24322830	20160223	RGD			
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:9952	acute lymphoblastic leukemia	no_association	ISO	RGD:1350168	D	RGD:10766474|PMID:22009189	20160223	RGD		DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human)	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:9952	acute lymphoblastic leukemia	no_association	ISO	RGD:1350168	D	RGD:11038723|PMID:24499706	20160223	RGD		DNA:SNPs: :multiple	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:1350168	D	RGD:10766474|PMID:22009189	20160223	RGD		DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human)	
1585162	Tpmt	thiopurine S-methyltransferase	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:1350168	D	RGD:11038720|PMID:17164697	20160223	RGD		DNA:SNPs:multiple	
1585168	Rnf168	ring finger protein 168	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585168	Rnf168	ring finger protein 168	gene	DOID:0090113	Riddle syndrome		ISO	RGD:1347950	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1585168	Rnf168	ring finger protein 168	gene	DOID:0090113	Riddle syndrome		ISO	RGD:1347950	D	RGD:7240710	20130221	OMIM			
1585168	Rnf168	ring finger protein 168	gene	DOID:0090113	Riddle syndrome		ISO	RGD:1347950	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: RIDDLE SYNDROME | ClinVar Annotator: match by term: RIDDLE syndrome | ClinVar Annotator: match by term: RNF168-related condition	PMID:17940005|PMID:19203578|PMID:21394101|PMID:24033266|PMID:25741868|PMID:28492532|PMID:35874679
1585168	Rnf168	ring finger protein 168	gene	DOID:0090113	Riddle syndrome		ISS	RGD:1623959	D	RGD:13592920	20230718	MouseDO		OMIM:611943	
1585168	Rnf168	ring finger protein 168	gene	DOID:1115	sarcoma		ISO	RGD:1347950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585168	Rnf168	ring finger protein 168	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1347950	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:34873829
1585168	Rnf168	ring finger protein 168	gene	DOID:1909	melanoma		ISO	RGD:1347950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585168	Rnf168	ring finger protein 168	gene	DOID:3275	thymoma		ISO	RGD:1347950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585168	Rnf168	ring finger protein 168	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1347950	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:34873829
1585168	Rnf168	ring finger protein 168	gene	DOID:4362	cervical cancer		ISO	RGD:1347950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585168	Rnf168	ring finger protein 168	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585168	Rnf168	ring finger protein 168	gene	DOID:630	genetic disease		ISO	RGD:1347950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1585168	Rnf168	ring finger protein 168	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585168	Rnf168	ring finger protein 168	gene	DOID:9000918	Disease Progression		ISO	RGD:1347950	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: marker/mechanism	PMID:34873829
1585168	Rnf168	ring finger protein 168	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585168	Rnf168	ring finger protein 168	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585173	Bag2	BAG cochaperone 2	gene	DOID:0061098	Carpenter syndrome 1		ISO	RGD:11588202|RGD:11595491|RGD:11598228|RGD:11653951|RGD:28867705|RGD:28867706|RGD:28867708|RGD:28867709|RGD:28867711|RGD:28867713|RGD:28867714|RGD:28871659|RGD:28871663|RGD:28871665|RGD:28871668|RGD:28906604|RGD:28906606|RGD:28906608|RGD:28906610|RGD:28906788|RGD:28906791|RGD:28906792|RGD:28909040|RGD:28909043|RGD:28909046|RGD:28909048|RGD:28909049|RGD:28909050|RGD:28909053|RGD:28909055|RGD:28909245|RGD:28909247	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition	
1585173	Bag2	BAG cochaperone 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585174	Izumo1r	IZUMO1 receptor, JUNO	gene	DOID:1115	sarcoma		ISO	RGD:2303851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1323087	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1323087	D	RGD:8554872	20190312	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:25741868
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:0050757	deafness-dystonia-optic neuronopathy syndrome		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MTS	PMID:25741868
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1323087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568|PMID:39394465
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meckel syndrome	PMID:25741868
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:0060340	ciliopathy		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliopathy	PMID:16199547|PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:0110096	short-rib thoracic dysplasia 14 with polydactyly		ISO	RGD:1323087	D	RGD:7240710	20170412	OMIM			
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:0110096	short-rib thoracic dysplasia 14 with polydactyly		ISO	RGD:1323087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: KIAA0586-related condition | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly	PMID:16199547|PMID:17576681|PMID:2080096|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28492532|PMID:28497568|PMID:32581362|PMID:9536098
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:0110992	Joubert syndrome 23		ISO	RGD:1323087	D	RGD:7240710	20161109	OMIM			
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:0110992	Joubert syndrome 23		ISO	RGD:1323087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 23 | ClinVar Annotator: match by term: Joubert syndrome 23	PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26026149|PMID:2609613|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28492532|PMID:28497568|PMID:32581362|PMID:9536098
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:1059	intellectual disability		ISO	RGD:1323087	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:1059	intellectual disability		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:1148	polydactyly		ISO	RGD:1323087	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15554946
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:1826	epilepsy		ISO	RGD:1323087	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:1909	melanoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:2234	focal epilepsy		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:3070	high grade glioma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:3275	thymoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1323087	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:540	strabismus		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: strabismus	PMID:25741868
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:630	genetic disease		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:8501	fundus dystrophy		ISO	RGD:1323087	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1323087	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323087	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568|PMID:32581362
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323087	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26437029|PMID:28492532|PMID:28497568|PMID:30055837
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1323087	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26938784
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1323087	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15554946
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585176	Kiaa0586	KIAA0586 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:0061289	Galloway-Mowat syndrome 6		ISO	RGD:1320425	D	RGD:7240710	20190315	OMIM			
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:0061289	Galloway-Mowat syndrome 6		ISO	RGD:1320425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 6 | ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 | ClinVar Annotator: match by term: WDR4-related condition	PMID:25741868|PMID:28492532|PMID:30079490|PMID:31289202
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:0081051	microcephaly, growth deficiency, seizures, and brain malformations		ISO	RGD:1320425	D	RGD:7240710	20190315	OMIM			
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:0081051	microcephaly, growth deficiency, seizures, and brain malformations		ISO	RGD:1320425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS | ClinVar Annotator: match by term: Microcephaly, growth deficiency, seizures, and brain malformations	PMID:25741868|PMID:28492532
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1320425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:1115	sarcoma		ISO	RGD:1320425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:1324	lung cancer		ISO	RGD:1320425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1320425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1320425	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:630	genetic disease		ISO	RGD:1320425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585179	Wdr4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585183	Il31	interleukin 31	gene	DOID:3310	atopic dermatitis		ISO	RGD:1353267	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:0050952	spastic ataxia		ISO	RGD:1319491	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:0080855	Parkinsonism		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonism	PMID:25741868
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1319491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation	PMID:21981780|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24209434|PMID:24361204|PMID:25592411|PMID:25741868|PMID:27801611|PMID:28347615|PMID:28352978|PMID:28492532|PMID:28641177|PMID:28832565|PMID:30088953|PMID:30392167|PMID:31087512|PMID:31970231|PMID:32552793|PMID:32581362|PMID:33607528
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:0110736	neurodegeneration with brain iron accumulation 2B		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B	PMID:25741868
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:0110738	neurodegeneration with brain iron accumulation 4		ISO	RGD:1319491	D	RGD:7240710	20140903	OMIM			
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:0110738	neurodegeneration with brain iron accumulation 4		ISO	RGD:1319491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: C19orf12-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4	PMID:17576681|PMID:18414213|PMID:20039086|PMID:21981780|PMID:22508347|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24209434|PMID:24361204|PMID:25592411|PMID:25741868|PMID:26187298|PMID:26539891|PMID:27112773|PMID:27801611|PMID:28347615|PMID:28352978|PMID:28492532|PMID:28641177|PMID:28832565|PMID:29389947|PMID:29915382|PMID:30088953|PMID:30369941|PMID:30392167|PMID:31087512|PMID:31105013|PMID:31970231|PMID:32552793|PMID:32581362|PMID:33134513|PMID:33607528|PMID:34022688|PMID:34234304|PMID:34272103|PMID:9536098
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:0110738	neurodegeneration with brain iron accumulation 4		ISS	RGD:1319492	D	RGD:13592920	20260122	MouseDO		OMIM:614298	
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:0110795	hereditary spastic paraplegia 43		ISO	RGD:1319491	D	RGD:7240710	20140911	OMIM			
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:0110795	hereditary spastic paraplegia 43		ISO	RGD:1319491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive	PMID:17576681|PMID:18414213|PMID:20039086|PMID:21981780|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24209434|PMID:24361204|PMID:25592411|PMID:25741868|PMID:26187298|PMID:27112773|PMID:27801611|PMID:28347615|PMID:28352978|PMID:28492532|PMID:28641177|PMID:28832565|PMID:29915382|PMID:30088953|PMID:30369941|PMID:30392167|PMID:31087512|PMID:31105013|PMID:31970231|PMID:32552793|PMID:32581362|PMID:33607528|PMID:33688131|PMID:34022688|PMID:34234304|PMID:35188090|PMID:9536098
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:0110810	hereditary spastic paraplegia 5A		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	PMID:25741868|PMID:28492532
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:1059	intellectual disability		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26539891
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:10907	microcephaly		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:23166001|PMID:25741868
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:1115	sarcoma		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:21981780|PMID:23269600|PMID:24361204|PMID:25741868|PMID:27112773|PMID:28492532|PMID:28832565|PMID:31087512|PMID:31105013|PMID:32552793
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1319491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:21981780|PMID:23269600|PMID:24361204|PMID:25741868|PMID:27112773|PMID:28352978|PMID:28492532|PMID:28832565|PMID:31087512|PMID:31105013|PMID:32552793
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:3275	thymoma		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1319491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:21981780|PMID:23269600|PMID:23436634|PMID:25741868|PMID:28492532|PMID:28641177|PMID:30392167|PMID:31087512|PMID:33607528
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1319491	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:543	dystonia		ISO	RGD:1319491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:21981780|PMID:23166001|PMID:23269600|PMID:23494994|PMID:23857908|PMID:24033266|PMID:25592411|PMID:25741868|PMID:28492532|PMID:30088953|PMID:31087512|PMID:33607528
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:607	paraplegia		ISO	RGD:1319491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:21981780|PMID:23269600|PMID:23436634|PMID:25741868|PMID:28492532|PMID:28641177|PMID:30392167|PMID:31087512|PMID:33607528
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:630	genetic disease		ISO	RGD:1319491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20039086|PMID:23857908|PMID:25741868|PMID:28492532|PMID:29915382|PMID:30369941|PMID:34022688|PMID:34234304
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:9000495	Tremor		ISO	RGD:1319491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tremor | ClinVar Annotator: match by term: tremors	PMID:21981780|PMID:23269600|PMID:23494994|PMID:23857908|PMID:24033266|PMID:25592411|PMID:25741868|PMID:28492532|PMID:30088953
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:9001722	Dysarthria		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:21981780|PMID:22584950|PMID:23166001|PMID:23278385|PMID:23436634|PMID:24209434|PMID:25592411|PMID:25741868|PMID:27801611|PMID:28347615|PMID:28492532|PMID:31970231|PMID:32581362|PMID:33607528
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1319491	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1319491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive decline	PMID:21981780|PMID:23269600|PMID:23494994|PMID:23857908|PMID:24033266|PMID:25592411|PMID:25741868|PMID:28492532|PMID:30088953
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:9003507	Premature Birth		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28492532
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:9004866	Ataxia		ISO	RGD:1319491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:21981780|PMID:22584950|PMID:23166001|PMID:23278385|PMID:23436634|PMID:24209434|PMID:25592411|PMID:25741868|PMID:27801611|PMID:28347615|PMID:28492532|PMID:31087512|PMID:31970231|PMID:32581362|PMID:33607528
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:9005077	Joint Instability		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:21981780|PMID:23269600|PMID:23436634|PMID:25741868|PMID:28492532|PMID:28641177|PMID:30392167|PMID:31087512|PMID:33607528
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1319491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28492532|PMID:31087512|PMID:33607528
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:9007722	Myoclonus		ISO	RGD:1319491	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:21981780|PMID:23269600|PMID:23436634|PMID:25741868|PMID:28492532|PMID:28641177|PMID:30392167|PMID:31087512|PMID:33607528
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:9007736	Vertigo		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23166001|PMID:25741868|PMID:26539891
1585208	C1h19orf12	similar to human chromosome 19 open reading frame 12	gene	DOID:9834	hyperopia		ISO	RGD:1319491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
1585218	Pmp2	peripheral myelin protein 2	gene	DOID:0110153	Charcot-Marie-Tooth disease type 1E		ISO	RGD:1316684	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E	PMID:25741868
1585218	Pmp2	peripheral myelin protein 2	gene	DOID:0111560	Charcot-Marie-Tooth disease type 1G		ISO	RGD:1316684	D	RGD:7240710	20190315	OMIM			
1585218	Pmp2	peripheral myelin protein 2	gene	DOID:0111560	Charcot-Marie-Tooth disease type 1G		ISO	RGD:1316684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1G | ClinVar Annotator: match by term: PMP2-related condition	PMID:25741868|PMID:26257172|PMID:26828946|PMID:27009151|PMID:28492532|PMID:28747762|PMID:30249361|PMID:30941082|PMID:31412900|PMID:32277537|PMID:37927275
1585218	Pmp2	peripheral myelin protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585218	Pmp2	peripheral myelin protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585218	Pmp2	peripheral myelin protein 2	gene	DOID:630	genetic disease		ISO	RGD:1316684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1585218	Pmp2	peripheral myelin protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585222	Pet100	PET100 cytochrome c oxidase chaperone	gene	DOID:0070498	mitochondrial complex IV deficiency nuclear type 12		ISO	RGD:5135069	D	RGD:7240710	20201111	OMIM			
1585223	Trim8	tripartite motif-containing 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585223	Trim8	tripartite motif-containing 8	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868|PMID:33508234
1585223	Trim8	tripartite motif-containing 8	gene	DOID:1826	epilepsy		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:33508234
1585223	Trim8	tripartite motif-containing 8	gene	DOID:1909	melanoma		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585223	Trim8	tripartite motif-containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585223	Trim8	tripartite motif-containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585223	Trim8	tripartite motif-containing 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1585223	Trim8	tripartite motif-containing 8	gene	DOID:630	genetic disease		ISO	RGD:1319835	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33508234
1585223	Trim8	tripartite motif-containing 8	gene	DOID:9001434	Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome		ISO	RGD:1319835	D	RGD:7240710	20210818	OMIM			
1585223	Trim8	tripartite motif-containing 8	gene	DOID:9001434	Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome		ISO	RGD:1319835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and neurodevelopmental syndrome | ClinVar Annotator: match by term: TRIM8-related condition	PMID:23934111|PMID:25741868|PMID:27346735|PMID:28492532|PMID:29758562|PMID:30244534|PMID:32193649|PMID:32531461|PMID:33508234|PMID:34930159|PMID:35032046|PMID:37061734|PMID:38674071|PMID:39708126
1585223	Trim8	tripartite motif-containing 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	PMID:25741868|PMID:30244534|PMID:33508234
1585223	Trim8	tripartite motif-containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585230	Aldh3b3	aldehyde dehydrogenase 3 family, member B3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585230	Aldh3b3	aldehyde dehydrogenase 3 family, member B3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318187	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1585230	Aldh3b3	aldehyde dehydrogenase 3 family, member B3	gene	DOID:1324	lung cancer		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585230	Aldh3b3	aldehyde dehydrogenase 3 family, member B3	gene	DOID:1909	melanoma		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585230	Aldh3b3	aldehyde dehydrogenase 3 family, member B3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1585230	Aldh3b3	aldehyde dehydrogenase 3 family, member B3	gene	DOID:4362	cervical cancer		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585230	Aldh3b3	aldehyde dehydrogenase 3 family, member B3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1585230	Aldh3b3	aldehyde dehydrogenase 3 family, member B3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318187	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585230	Aldh3b3	aldehyde dehydrogenase 3 family, member B3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585230	Aldh3b3	aldehyde dehydrogenase 3 family, member B3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585251	Tmem200b	transmembrane protein 200B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585259	Tulp3	TUB like protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585259	Tulp3	TUB like protein 3	gene	DOID:0080322	polycystic kidney disease		ISS	RGD:1557674	D	RGD:13592920	20200312	MouseDO			
1585259	Tulp3	TUB like protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1348382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585259	Tulp3	TUB like protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1348382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585259	Tulp3	TUB like protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1585259	Tulp3	TUB like protein 3	gene	DOID:3275	thymoma		ISO	RGD:1348382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585259	Tulp3	TUB like protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1348382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585259	Tulp3	TUB like protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585259	Tulp3	TUB like protein 3	gene	DOID:630	genetic disease		ISO	RGD:1348382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
1585259	Tulp3	TUB like protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585259	Tulp3	TUB like protein 3	gene	DOID:9006301	HEPATORENOCARDIAC DEGENERATIVE FIBROSIS		ISO	RGD:1348382	D	RGD:7240710	20220810	OMIM			
1585259	Tulp3	TUB like protein 3	gene	DOID:9006301	HEPATORENOCARDIAC DEGENERATIVE FIBROSIS		ISO	RGD:1348382	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS | ClinVar Annotator: match by term: Hepatorenocardiac degenerative fibrosis	PMID:25741868|PMID:35040250|PMID:35397207
1585259	Tulp3	TUB like protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585259	Tulp3	TUB like protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585259	Tulp3	TUB like protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585259	Tulp3	TUB like protein 3	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1348382	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
1585259	Tulp3	TUB like protein 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1348382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1585262	Hdhd3	haloacid dehalogenase-like hydrolase domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1351910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585272	Matcap1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:0080600	COVID-19		ISO	RGD:2302259	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1585272	Matcap1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585272	Matcap1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:1909	melanoma		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585272	Matcap1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585272	Matcap1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585272	Matcap1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585290	Slirp	SRA stem-loop interacting RNA binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585290	Slirp	SRA stem-loop interacting RNA binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1323602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585290	Slirp	SRA stem-loop interacting RNA binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1585290	Slirp	SRA stem-loop interacting RNA binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1585290	Slirp	SRA stem-loop interacting RNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585290	Slirp	SRA stem-loop interacting RNA binding protein	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:1323602	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Mitochondrial encephalomyopathy	
1585290	Slirp	SRA stem-loop interacting RNA binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585322	Tmem217	transmembrane protein 217	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1343464	D	RGD:11554173	20240910	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
1585380	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585380	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585380	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25171927|PMID:28183850|PMID:35101336
1585380	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:1909	melanoma		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585380	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1585380	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:3181	oligodendroglioma		ISO	RGD:1353899	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
1585380	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1353899	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208345
1585380	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585380	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585380	Dtx1	deltex E3 ubiquitin ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585399	Acp7	acid phosphatase 7, tartrate resistant	gene	DOID:4362	cervical cancer		ISO	RGD:1604436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585399	Acp7	acid phosphatase 7, tartrate resistant	gene	DOID:5041	esophageal cancer		ISO	RGD:1604436	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585413	Cabyr	calcium binding tyrosine phosphorylation regulated	gene	DOID:1115	sarcoma		ISO	RGD:1349000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585413	Cabyr	calcium binding tyrosine phosphorylation regulated	gene	DOID:12336	male infertility		ISS	RGD:1616750	D	RGD:13592920	20180518	MouseDO			
1585413	Cabyr	calcium binding tyrosine phosphorylation regulated	gene	DOID:1324	lung cancer		ISO	RGD:1349000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585413	Cabyr	calcium binding tyrosine phosphorylation regulated	gene	DOID:5041	esophageal cancer		ISO	RGD:1349000	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585413	Cabyr	calcium binding tyrosine phosphorylation regulated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585413	Cabyr	calcium binding tyrosine phosphorylation regulated	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1349000	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
1585413	Cabyr	calcium binding tyrosine phosphorylation regulated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585423	Ttc39c	tetratricopeptide repeat domain 39C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585423	Ttc39c	tetratricopeptide repeat domain 39C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585423	Ttc39c	tetratricopeptide repeat domain 39C	gene	DOID:1115	sarcoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585423	Ttc39c	tetratricopeptide repeat domain 39C	gene	DOID:1324	lung cancer		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585423	Ttc39c	tetratricopeptide repeat domain 39C	gene	DOID:1909	melanoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585423	Ttc39c	tetratricopeptide repeat domain 39C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345290	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1585423	Ttc39c	tetratricopeptide repeat domain 39C	gene	DOID:5041	esophageal cancer		ISO	RGD:1345290	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585423	Ttc39c	tetratricopeptide repeat domain 39C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1585423	Ttc39c	tetratricopeptide repeat domain 39C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585423	Ttc39c	tetratricopeptide repeat domain 39C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1585423	Ttc39c	tetratricopeptide repeat domain 39C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585423	Ttc39c	tetratricopeptide repeat domain 39C	gene	DOID:9256	colorectal cancer		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1585474	Lce1e	late cornified envelope 1E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585474	Lce1e	late cornified envelope 1E	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1585474	Lce1e	late cornified envelope 1E	gene	DOID:9256	colorectal cancer		ISO	RGD:1342802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1585482	Meis1	Meis homeobox 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585482	Meis1	Meis homeobox 1	gene	DOID:0050425	restless legs syndrome		ISO	RGD:1315277	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:17637780|PMID:28604731
1585482	Meis1	Meis homeobox 1	gene	DOID:0050425	restless legs syndrome		ISS	RGD:1550525	D	RGD:13592920	20240801	MouseDO			
1585482	Meis1	Meis homeobox 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585482	Meis1	Meis homeobox 1	gene	DOID:114	heart disease		ISO	RGD:1315277	D	RGD:11554891|PMID:26597775	20221027	RGD		mRNA, protein:decreased expression:heart (human)	
1585482	Meis1	Meis homeobox 1	gene	DOID:1324	lung cancer		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585482	Meis1	Meis homeobox 1	gene	DOID:13938	amenorrhea		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:25741868
1585482	Meis1	Meis homeobox 1	gene	DOID:1909	melanoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585482	Meis1	Meis homeobox 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1585482	Meis1	Meis homeobox 1	gene	DOID:3275	thymoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585482	Meis1	Meis homeobox 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1585482	Meis1	Meis homeobox 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585482	Meis1	Meis homeobox 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1585482	Meis1	Meis homeobox 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315277	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585482	Meis1	Meis homeobox 1	gene	DOID:5394	prolactinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroprolactinoma	PMID:25741868
1585482	Meis1	Meis homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585482	Meis1	Meis homeobox 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1585482	Meis1	Meis homeobox 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1550525	D	RGD:11554891|PMID:26597775	20221027	RGD		mRNA, protein:decreased expression:heart (mouse)	
1585482	Meis1	Meis homeobox 1	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1315277	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28604731
1585482	Meis1	Meis homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585482	Meis1	Meis homeobox 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1315277	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19776672
1585482	Meis1	Meis homeobox 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585494	Eif4e1b	eukaryotic translation initiation factor 4E family member 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585495	Frg1	FSHD region gene 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585495	Frg1	FSHD region gene 1	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:27571888|PMID:27993330|PMID:33987411
1585495	Frg1	FSHD region gene 1	gene	DOID:0081250	CIC-rearranged sarcoma		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CIC-DUX Sarcoma	
1585495	Frg1	FSHD region gene 1	gene	DOID:0111192	facioscapulohumeral muscular dystrophy 1		ISO	RGD:1320772	D	RGD:11554173	20170613	CTD		CTD Direct Evidence: marker/mechanism	
1585495	Frg1	FSHD region gene 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585495	Frg1	FSHD region gene 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585495	Frg1	FSHD region gene 1	gene	DOID:1115	sarcoma		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585495	Frg1	FSHD region gene 1	gene	DOID:1909	melanoma		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585495	Frg1	FSHD region gene 1	gene	DOID:3275	thymoma		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585495	Frg1	FSHD region gene 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585495	Frg1	FSHD region gene 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1585495	Frg1	FSHD region gene 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1585495	Frg1	FSHD region gene 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585495	Frg1	FSHD region gene 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585495	Frg1	FSHD region gene 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1585495	Frg1	FSHD region gene 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1585495	Frg1	FSHD region gene 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585495	Frg1	FSHD region gene 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585495	Frg1	FSHD region gene 1	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1320772	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Pulmonary artery atresia	
1585495	Frg1	FSHD region gene 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585495	Frg1	FSHD region gene 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ETV6-related condition	
1585566	Ttc32	tetratricopeptide repeat domain 32	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585566	Ttc32	tetratricopeptide repeat domain 32	gene	DOID:4362	cervical cancer		ISO	RGD:1605580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585566	Ttc32	tetratricopeptide repeat domain 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:0050933	ovarian serous carcinoma	susceptibility	ISO	RGD:1605662	D	RGD:14348955|PMID:29979793	20190201	RGD		DNA:SNP:intron:rs10788679(human)	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:10534	stomach cancer		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:1115	sarcoma		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:1324	lung cancer		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:1909	melanoma		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:3275	thymoma		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:3307	teratoma		ISO	RGD:1605662	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:4362	cervical cancer		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605662	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605662	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:6212	ovarian endometrial cancer	susceptibility	ISO	RGD:1605662	D	RGD:14348955|PMID:29979793	20190201	RGD		DNA:SNP: :rs2256787(human)	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:1605662	D	RGD:8554872	20160419	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:26350515
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585585	Arhgef10l	Rho guanine nucleotide exchange factor 10 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585595	Smap1	small ArfGAP 1	gene	DOID:0080418	developmental and epileptic encephalopathy 54		ISO	RGD:1347252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54	PMID:25741868
1585595	Smap1	small ArfGAP 1	gene	DOID:1324	lung cancer		ISO	RGD:1347252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585595	Smap1	small ArfGAP 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585595	Smap1	small ArfGAP 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585601	Jmy	junction mediating and regulatory protein, p53 cofactor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585601	Jmy	junction mediating and regulatory protein, p53 cofactor	gene	DOID:10534	stomach cancer		ISO	RGD:1603907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585601	Jmy	junction mediating and regulatory protein, p53 cofactor	gene	DOID:1909	melanoma		ISO	RGD:1603907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585601	Jmy	junction mediating and regulatory protein, p53 cofactor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585601	Jmy	junction mediating and regulatory protein, p53 cofactor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585601	Jmy	junction mediating and regulatory protein, p53 cofactor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585601	Jmy	junction mediating and regulatory protein, p53 cofactor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585624	Gnpda1	glucosamine-6-phosphate deaminase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585624	Gnpda1	glucosamine-6-phosphate deaminase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585624	Gnpda1	glucosamine-6-phosphate deaminase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1349274	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1585624	Gnpda1	glucosamine-6-phosphate deaminase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585624	Gnpda1	glucosamine-6-phosphate deaminase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1349274	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1585624	Gnpda1	glucosamine-6-phosphate deaminase 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1349274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1585624	Gnpda1	glucosamine-6-phosphate deaminase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1585624	Gnpda1	glucosamine-6-phosphate deaminase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585624	Gnpda1	glucosamine-6-phosphate deaminase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585671	Tead4	TEA domain transcription factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585671	Tead4	TEA domain transcription factor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1605719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585671	Tead4	TEA domain transcription factor 4	gene	DOID:1324	lung cancer		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585671	Tead4	TEA domain transcription factor 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1585671	Tead4	TEA domain transcription factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585671	Tead4	TEA domain transcription factor 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1605719	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585671	Tead4	TEA domain transcription factor 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1585671	Tead4	TEA domain transcription factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585671	Tead4	TEA domain transcription factor 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585671	Tead4	TEA domain transcription factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:0080499	ovarian dysgenesis 7		ISO	RGD:1353996	D	RGD:7240710	20190315	OMIM			
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:0080499	ovarian dysgenesis 7		ISO	RGD:1353996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian dysgenesis 7	PMID:17873122|PMID:18539099|PMID:25741868|PMID:28492532|PMID:29096039
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:0111473	combined oxidative phosphorylation deficiency 5		ISO	RGD:1353996	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:0111473	combined oxidative phosphorylation deficiency 5		ISO	RGD:1353996	D	RGD:7240710	20130731	OMIM			
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:0111473	combined oxidative phosphorylation deficiency 5		ISO	RGD:1353996	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 | ClinVar Annotator: match by term: Hypotonia with lactic acidemia and hyperammonemia | ClinVar Annotator: match by term: MRPS22-related condition	PMID:17576681|PMID:17873122|PMID:18539099|PMID:25663021|PMID:25741868|PMID:28492532|PMID:28752220|PMID:29096039|PMID:31683770|PMID:9536098
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:0111474	combined oxidative phosphorylation deficiency 1		ISO	RGD:1353996	D	RGD:8554872	20181206	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1	PMID:25741868
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:10534	stomach cancer		ISO	RGD:1353996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:1324	lung cancer		ISO	RGD:1353996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:14450	46 XX gonadal dysgenesis		ISO	RGD:1353996	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 46,XX gonadal dysgenesis	PMID:25741868|PMID:28492532|PMID:29566152
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:4362	cervical cancer		ISO	RGD:1353996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:5041	esophageal cancer		ISO	RGD:1353996	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1353996	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary Ovarian Insufficiency	PMID:31042289
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:630	genetic disease		ISO	RGD:1353996	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1353996	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532
1585674	Mrps22	mitochondrial ribosomal protein S22	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353996	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
1585679	Ppp1r42	protein phosphatase 1, regulatory subunit 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606658	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585679	Ppp1r42	protein phosphatase 1, regulatory subunit 42	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585679	Ppp1r42	protein phosphatase 1, regulatory subunit 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585681	Uqcc1	ubiquinol-cytochrome c reductase complex assembly factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585687	Sack1c	scaffolding CK1 anchoring protein C	gene	DOID:10283	prostate cancer		ISO	RGD:1344185	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1585687	Sack1c	scaffolding CK1 anchoring protein C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1585687	Sack1c	scaffolding CK1 anchoring protein C	gene	DOID:5041	esophageal cancer		ISO	RGD:1344185	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585689	Zfp639	zinc finger protein 639	gene	DOID:0060058	lymphoma		ISO	RGD:1353900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1585689	Zfp639	zinc finger protein 639	gene	DOID:1909	melanoma		ISO	RGD:1353900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585689	Zfp639	zinc finger protein 639	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585798	Tubg2	tubulin, gamma 2	gene	DOID:1909	melanoma		ISO	RGD:1316944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585798	Tubg2	tubulin, gamma 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1585798	Tubg2	tubulin, gamma 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585798	Tubg2	tubulin, gamma 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585798	Tubg2	tubulin, gamma 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585799	Gdpd4	glycerophosphodiester phosphodiesterase domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585799	Gdpd4	glycerophosphodiester phosphodiesterase domain containing 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1585799	Gdpd4	glycerophosphodiester phosphodiesterase domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585802	Ciao2b	cytosolic iron-sulfur assembly component 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585802	Ciao2b	cytosolic iron-sulfur assembly component 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1602116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585802	Ciao2b	cytosolic iron-sulfur assembly component 2B	gene	DOID:6039	uveal melanoma		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1585802	Ciao2b	cytosolic iron-sulfur assembly component 2B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
1585802	Ciao2b	cytosolic iron-sulfur assembly component 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585802	Ciao2b	cytosolic iron-sulfur assembly component 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:0061280	Senior-Loken syndrome 6		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Senior-Loken syndrome 6	PMID:25741868
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:0110806	hereditary spastic paraplegia 54		ISO	RGD:1318138	D	RGD:7240710	20140911	OMIM			
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:0110806	hereditary spastic paraplegia 54		ISO	RGD:1318138	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 54, autosomal recessive	PMID:16199547|PMID:17576681|PMID:23176823|PMID:23486545|PMID:24482476|PMID:25741868|PMID:28492532|PMID:31271950|PMID:31302745|PMID:32488064|PMID:9536098
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:0110806	hereditary spastic paraplegia 54		ISS	RGD:1619129	D	RGD:13592920	20230718	MouseDO		OMIM:615033	
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1318138	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318138	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:5419	schizophrenia		ISO	RGD:1318138	D	RGD:11554173	20210308	CTD		CTD Direct Evidence: marker/mechanism	PMID:33462483
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1585818	Ddhd2	DDHD domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585844	Sdf2l1	stromal cell-derived factor 2-like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585844	Sdf2l1	stromal cell-derived factor 2-like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585844	Sdf2l1	stromal cell-derived factor 2-like 1	gene	DOID:3275	thymoma		ISO	RGD:1320780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585844	Sdf2l1	stromal cell-derived factor 2-like 1	gene	DOID:8778	Crohn's disease		ISO	RGD:1320780	D	RGD:11554173	20221101	CTD		CTD Direct Evidence: marker/mechanism	PMID:36038634
1585844	Sdf2l1	stromal cell-derived factor 2-like 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320780	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
1585844	Sdf2l1	stromal cell-derived factor 2-like 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1320780	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
1585844	Sdf2l1	stromal cell-derived factor 2-like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585844	Sdf2l1	stromal cell-derived factor 2-like 1	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	IAGP		D	RGD:11528530|PMID:27463508	20161025	RGD		DNA:deletion:exons, introns:g.3_910del (rat)	
1585858	Bmp8a	bone morphogenetic protein 8a	gene	DOID:0050830	peripheral artery disease		ISO	RGD:1350211	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:27082954
1585858	Bmp8a	bone morphogenetic protein 8a	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585858	Bmp8a	bone morphogenetic protein 8a	gene	DOID:1324	lung cancer		ISO	RGD:1350211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585858	Bmp8a	bone morphogenetic protein 8a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585858	Bmp8a	bone morphogenetic protein 8a	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1585858	Bmp8a	bone morphogenetic protein 8a	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:1620926	D	RGD:127284853|PMID:21889218	20210610	RGD		mRNA:decreased expression:middle ear (mouse)	
1585866	Pvrig	PVR related immunoglobulin domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1604301	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585866	Pvrig	PVR related immunoglobulin domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585866	Pvrig	PVR related immunoglobulin domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1313885	D	RGD:9588975|PMID:10637515	20141105	RGD		DNA:insertion, deletion:exon:c.939_940insA, c.939delA (human)	
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:12849	autistic disorder		ISO	RGD:1313885	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19921286
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1313885	D	RGD:9588970|PMID:18495292	20141105	RGD		DNA:snp:cds:p.E346K (rs140693) (human)	
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:1313885	D	RGD:9588976|PMID:15205355	20141105	RGD		DNA:snp:cds:p.E346K (rs140693) (human)	
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:1313885	D	RGD:9588980|PMID:25162968	20141105	RGD		DNA:snp:intron:IVS5-140A>G (rs3138355) (human)	
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:6039	uveal melanoma		ISO	RGD:1313885	D	RGD:11554173	20260414	CTD		CTD Direct Evidence: marker/mechanism	
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:6039	uveal melanoma		ISO	RGD:1313885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MBD4-related condition | ClinVar Annotator: match by term: MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1	PMID:25741868|PMID:28492532|PMID:29760383|PMID:30049810|PMID:30714079|PMID:32239153|PMID:35460607|PMID:38060262|PMID:40605265
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:6039	uveal melanoma	susceptibility	ISO	RGD:1313885	D	RGD:7240710	20260729	OMIM			
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:630	genetic disease		ISO	RGD:1313885	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30049810|PMID:30714079|PMID:32239153|PMID:32421892|PMID:35460607
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:630	genetic disease		ISO	RGD:1313885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29760383|PMID:30049810|PMID:32239153|PMID:35460607|PMID:36896836
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:7148	rheumatoid arthritis	no_association	ISO	RGD:1313885	D	RGD:9588978|PMID:22505706	20141105	RGD		DNA:snps:cds, intron:p.E346K, IVS6-218C>T (rs140693, rs2005618) (human)	
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:7148	rheumatoid arthritis	susceptibility	ISO	RGD:1313885	D	RGD:9588977|PMID:20676650	20141105	RGD		DNA:snps:introns:IVS5-140A>G (rs3138355), IVS6-218C>T (rs2005618) (human)	
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:9000676	Tumor Predisposition Syndrome 2		ISO	RGD:1313885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 2 | ClinVar Annotator: match by term: Tumor predisposition syndrome 2	PMID:16199547|PMID:25741868|PMID:28492532|PMID:30049810|PMID:30714079|PMID:31322271|PMID:32239153|PMID:34106356|PMID:35460607|PMID:36863448
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:9000676	Tumor Predisposition Syndrome 2	susceptibility	ISO	RGD:1313885	D	RGD:7240710	20260729	OMIM			
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:9002245	Intestinal Neoplasms	severity	ISO	RGD:1313886	D	RGD:9588981|PMID:12130785	20141105	RGD			
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313885	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532|PMID:30049810|PMID:33871441|PMID:35381620
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:9008443	Colorectal Neoplasms	severity	ISO	RGD:1313885	D	RGD:9588979|PMID:18097604	20141105	RGD		mRNA:increased expression:colon, rectum (human)	
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:9008443	Colorectal Neoplasms	susceptibility	ISO	RGD:1313885	D	RGD:2316846|PMID:19469655	20100301	RGD		DNA:polymorphism:cds:p.E346K (human)	
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585874	Mbd4	methyl-CpG binding domain 4 DNA glycosylase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585876	C19h16orf78	similar to human chromosome 16 open reading frame 78	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585877	Kcnu1	potassium calcium-activated channel subfamily U member 1	gene	DOID:0070578	spermatogenic failure 79		ISO	RGD:1348220	D	RGD:7240710	20230125	OMIM			
1585877	Kcnu1	potassium calcium-activated channel subfamily U member 1	gene	DOID:0070578	spermatogenic failure 79		ISO	RGD:1348220	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 79	
1585877	Kcnu1	potassium calcium-activated channel subfamily U member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585877	Kcnu1	potassium calcium-activated channel subfamily U member 1	gene	DOID:1115	sarcoma		ISO	RGD:1348220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585877	Kcnu1	potassium calcium-activated channel subfamily U member 1	gene	DOID:1324	lung cancer		ISO	RGD:1348220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585877	Kcnu1	potassium calcium-activated channel subfamily U member 1	gene	DOID:1909	melanoma		ISO	RGD:1348220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585877	Kcnu1	potassium calcium-activated channel subfamily U member 1	gene	DOID:3275	thymoma		ISO	RGD:1348220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585877	Kcnu1	potassium calcium-activated channel subfamily U member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348220	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585877	Kcnu1	potassium calcium-activated channel subfamily U member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1348220	D	RGD:11554173	20171114	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
1585896	Med12	mediator complex subunit 12	gene	DOID:0001816	angiosarcoma		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANGIOSARCOMA	PMID:21868628|PMID:24390224|PMID:24746821|PMID:26692951|PMID:27993330|PMID:28726821|PMID:35705558|PMID:35705560
1585896	Med12	mediator complex subunit 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:0050567	orofacial cleft		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:0050581	brachydactyly		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076
1585896	Med12	mediator complex subunit 12	gene	DOID:0050735	X-linked monogenic disease		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: X-linked inheritance	PMID:25741868|PMID:27286923
1585896	Med12	mediator complex subunit 12	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585896	Med12	mediator complex subunit 12	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:10405444|PMID:16700052|PMID:17036352|PMID:17103446|PMID:17334363|PMID:17369503|PMID:20507344|PMID:20970104|PMID:23395478|PMID:24039113|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26338144|PMID:8279489
1585896	Med12	mediator complex subunit 12	gene	DOID:0060248	Simpson-Golabi-Behmel syndrome type 1		ISO	RGD:1350145	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:0060249	scoliosis		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:0060260	ptosis		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:33244165
1585896	Med12	mediator complex subunit 12	gene	DOID:0060289	Ohdo syndrome		ISO	RGD:1350145	D	RGD:11554173	20171031	CTD		CTD Direct Evidence: marker/mechanism	
1585896	Med12	mediator complex subunit 12	gene	DOID:0060604	ankyloglossia		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	PMID:25741868|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076
1585896	Med12	mediator complex subunit 12	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:0080216	duodenal atresia		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duodenal atresia	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type		ISO	RGD:1350145	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1585896	Med12	mediator complex subunit 12	gene	DOID:0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type		ISO	RGD:1350145	D	RGD:12910949|PMID:17369503	20170629	RGD		DNA:missense mutation:cds:p.N1007S(human)	
1585896	Med12	mediator complex subunit 12	gene	DOID:0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type		ISO	RGD:1350145	D	RGD:7240710	20130221	OMIM			
1585896	Med12	mediator complex subunit 12	gene	DOID:0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type		ISO	RGD:1350145	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lujan Syndrome | ClinVar Annotator: match by term: MED12-related intellectual disability syndrome | ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome	PMID:23506379|PMID:24039113|PMID:25741868|PMID:27500536|PMID:27620904|PMID:28369444|PMID:28492532|PMID:28518168|PMID:28794916|PMID:30006928|PMID:30729724|PMID:31536828|PMID:32174975|PMID:32461654|PMID:32682435|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34008892|PMID:34079076|PMID:34573309|PMID:36271811|PMID:36413997|PMID:37480025
1585896	Med12	mediator complex subunit 12	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:0110457	dilated cardiomyopathy 1Y		ISO	RGD:1350145	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y	PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:10534	stomach cancer		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:10579	leukodystrophy		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:1059	intellectual disability		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26273451|PMID:26350204|PMID:27159028|PMID:27286923|PMID:28369444|PMID:28492532|PMID:28544239|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:39215511|PMID:39825153|PMID:39843441
1585896	Med12	mediator complex subunit 12	gene	DOID:1059	intellectual disability		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability	PMID:10405444|PMID:17334363|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20981778|PMID:23091001|PMID:25741868|PMID:26273451|PMID:26350204|PMID:27159028|PMID:27286923|PMID:28369444|PMID:28492532|PMID:28544239|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:39215511|PMID:39843441
1585896	Med12	mediator complex subunit 12	gene	DOID:1059	intellectual disability		ISO	RGD:1350145	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability	PMID:10405444|PMID:17334363|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20981778|PMID:23091001|PMID:25741868|PMID:26273451|PMID:26350204|PMID:27159028|PMID:27286923|PMID:28369444|PMID:28492532|PMID:28544239|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:36271811|PMID:39215511|PMID:39843441
1585896	Med12	mediator complex subunit 12	gene	DOID:1059	intellectual disability		ISO	RGD:1350145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:26273451|PMID:27159028|PMID:27286923|PMID:28492532|PMID:28544239|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:39215511|PMID:39843441
1585896	Med12	mediator complex subunit 12	gene	DOID:10907	microcephaly		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:10908	hydrocephalus		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aqueductal stenosis | ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585896	Med12	mediator complex subunit 12	gene	DOID:11111	hydronephrosis		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076
1585896	Med12	mediator complex subunit 12	gene	DOID:1143	exotropia		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exodeviation	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:11830	myopia		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:12176	goiter		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:12849	autistic disorder		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:17369503|PMID:19938245|PMID:23395478|PMID:24039113|PMID:24077912|PMID:25741868|PMID:27159028|PMID:28492532|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:36801247
1585896	Med12	mediator complex subunit 12	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:13223	uterine fibroid		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leiomyoma, uterine	PMID:21868628|PMID:24746821|PMID:26018969|PMID:26822237|PMID:27993330|PMID:28726821|PMID:28771672|PMID:32046450
1585896	Med12	mediator complex subunit 12	gene	DOID:1324	lung cancer		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585896	Med12	mediator complex subunit 12	gene	DOID:13948	bladder neck obstruction		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder outlet obstruction	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1350145	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:18414213|PMID:20301719|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27312080|PMID:28492532|PMID:28544239|PMID:30006928|PMID:33244166|PMID:9536098
1585896	Med12	mediator complex subunit 12	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1350145	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:18414213|PMID:20301719|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27312080|PMID:28492532|PMID:28544239|PMID:30006928|PMID:33023636|PMID:33244166|PMID:34008892|PMID:9536098
1585896	Med12	mediator complex subunit 12	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1350145	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10405444|PMID:17334363|PMID:17576681|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26350204|PMID:26813965|PMID:27081531|PMID:27312080|PMID:28369444|PMID:28492532|PMID:28544239|PMID:28882788|PMID:30006928|PMID:30729724|PMID:32779332|PMID:33023636|PMID:33244166|PMID:34008892|PMID:9536098
1585896	Med12	mediator complex subunit 12	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1350145	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10405444|PMID:17334363|PMID:17576681|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:23506379|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26350204|PMID:26813965|PMID:27081531|PMID:27312080|PMID:28369444|PMID:28492532|PMID:28544239|PMID:28882788|PMID:30006928|PMID:30729724|PMID:32779332|PMID:33023636|PMID:33244166|PMID:34008892|PMID:36271811|PMID:9536098
1585896	Med12	mediator complex subunit 12	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1350145	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10405444|PMID:17334363|PMID:17576681|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:23506379|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26350204|PMID:26813965|PMID:27081531|PMID:27312080|PMID:28369444|PMID:28492532|PMID:28544239|PMID:28882788|PMID:30006928|PMID:30729724|PMID:32779332|PMID:33244166|PMID:34008892|PMID:36271811|PMID:39825153|PMID:9536098
1585896	Med12	mediator complex subunit 12	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10405444|PMID:17334363|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23506379|PMID:24039113|PMID:24728327|PMID:25326635|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26350204|PMID:26813965|PMID:27081531|PMID:27312080|PMID:28369444|PMID:28492532|PMID:28518168|PMID:28544239|PMID:30006928|PMID:30729724|PMID:32461654|PMID:32779332|PMID:34008892|PMID:36271811|PMID:36413997|PMID:39215511|PMID:39825153|PMID:39843441
1585896	Med12	mediator complex subunit 12	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10405444|PMID:17334363|PMID:18414213|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20981778|PMID:23091001|PMID:23506379|PMID:24039113|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26350204|PMID:26813965|PMID:27081531|PMID:27312080|PMID:28369444|PMID:28492532|PMID:28518168|PMID:28544239|PMID:30006928|PMID:30729724|PMID:32461654|PMID:32779332|PMID:34008892|PMID:36271811|PMID:36413997|PMID:39215511|PMID:39843441
1585896	Med12	mediator complex subunit 12	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1350145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:18414213|PMID:23506379|PMID:24039113|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27081531|PMID:27312080|PMID:28369444|PMID:28492532|PMID:28518168|PMID:28544239|PMID:30006928|PMID:30729724|PMID:32461654|PMID:32779332|PMID:34008892|PMID:36271811|PMID:36413997|PMID:39215511|PMID:39843441
1585896	Med12	mediator complex subunit 12	gene	DOID:1470	major depressive disorder		ISO	RGD:1350145	D	RGD:1358728|PMID:12216017	20200805	RGD		DNA:mutation:multiple	
1585896	Med12	mediator complex subunit 12	gene	DOID:14711	FG syndrome		ISO	RGD:1350145	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17334363
1585896	Med12	mediator complex subunit 12	gene	DOID:14711	FG syndrome		ISO	RGD:1350145	D	RGD:12910948|PMID:20507344	20170629	RGD		DNA:missense mutation:cds:p.G958E(human)	
1585896	Med12	mediator complex subunit 12	gene	DOID:14711	FG syndrome		ISO	RGD:1350145	D	RGD:12910952|PMID:17334363	20170629	RGD		DNA:missense mutation:cds:2881C>T(p.R961W)(human)	
1585896	Med12	mediator complex subunit 12	gene	DOID:14711	FG syndrome		ISO	RGD:1350145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:23506379|PMID:24039113|PMID:25644381|PMID:25741868|PMID:26338144|PMID:26813965|PMID:27081531|PMID:27286923|PMID:27312080|PMID:27500536|PMID:27620904|PMID:28369444|PMID:28492532|PMID:28518168|PMID:28544239|PMID:28794916|PMID:30006928|PMID:30729724|PMID:31536828|PMID:32174975|PMID:32371413|PMID:32410215|PMID:32461654|PMID:32682435|PMID:32779332|PMID:33023636|PMID:33057194|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34008892|PMID:34079076|PMID:34573309|PMID:35903967|PMID:35982159|PMID:36066546|PMID:36271811|PMID:36413997|PMID:36801247|PMID:38693247|PMID:39215511|PMID:39843441|PMID:9536098
1585896	Med12	mediator complex subunit 12	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1350145	D	RGD:8554872	20200512	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type	PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:1588	thrombocytopenia		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:1596	depressive disorder		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:1657	ventricular septal defect		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076
1585896	Med12	mediator complex subunit 12	gene	DOID:1826	epilepsy		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:1909	melanoma		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1585896	Med12	mediator complex subunit 12	gene	DOID:1967	leiomyosarcoma		ISO	RGD:1350145	D	RGD:11353203|PMID:26891131	20170629	RGD		DNA:missense mutations:cds:	
1585896	Med12	mediator complex subunit 12	gene	DOID:2030	anxiety disorder		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:2154	nephroblastoma		ISO	RGD:1350145	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Wilms tumor 1	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:2234	focal epilepsy		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1585896	Med12	mediator complex subunit 12	gene	DOID:2786	cerebellar disease		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cerebellar syndrome	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:2841	asthma		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:3068	glioblastoma		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLIOBLASTOMA	
1585896	Med12	mediator complex subunit 12	gene	DOID:3070	high grade glioma		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1585896	Med12	mediator complex subunit 12	gene	DOID:3312	bipolar disorder		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ewing sarcoma	PMID:21868628|PMID:24746821|PMID:26018969|PMID:26822237|PMID:27993330|PMID:28771672|PMID:29440396
1585896	Med12	mediator complex subunit 12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1585896	Med12	mediator complex subunit 12	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1350145	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24747642
1585896	Med12	mediator complex subunit 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1585896	Med12	mediator complex subunit 12	gene	DOID:4188	echolalia		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:25741868|PMID:28492532|PMID:36801247
1585896	Med12	mediator complex subunit 12	gene	DOID:4362	cervical cancer		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585896	Med12	mediator complex subunit 12	gene	DOID:480	movement disease		ISO	RGD:1350145	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1350145	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585896	Med12	mediator complex subunit 12	gene	DOID:535	sleep disorder		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disorder	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1585896	Med12	mediator complex subunit 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585896	Med12	mediator complex subunit 12	gene	DOID:576	proteinuria		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:591	phobic disorder		ISO	RGD:1350145	D	RGD:1358728|PMID:12216017	20200805	RGD		DNA:mutation:multiple	
1585896	Med12	mediator complex subunit 12	gene	DOID:630	genetic disease		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10405444|PMID:16700052|PMID:17036352|PMID:17103446|PMID:17334363|PMID:17369503|PMID:20301719|PMID:20507344|PMID:20970104|PMID:23395478|PMID:24039113|PMID:25326637|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26338144|PMID:27500536|PMID:27620904|PMID:28492532|PMID:28794916|PMID:30006928|PMID:32174975|PMID:32682435|PMID:33057194|PMID:33244166|PMID:34573309|PMID:35982159|PMID:36066546|PMID:36271811|PMID:8279489
1585896	Med12	mediator complex subunit 12	gene	DOID:630	genetic disease		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10405444|PMID:16700052|PMID:17036352|PMID:17103446|PMID:17334363|PMID:17369503|PMID:20507344|PMID:20970104|PMID:23395478|PMID:24039113|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26338144|PMID:27500536|PMID:27620904|PMID:28492532|PMID:28794916|PMID:30006928|PMID:32174975|PMID:32682435|PMID:33057194|PMID:33244166|PMID:34573309|PMID:35982159|PMID:36066546|PMID:36271811|PMID:8279489
1585896	Med12	mediator complex subunit 12	gene	DOID:674	cleft palate		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1585896	Med12	mediator complex subunit 12	gene	DOID:8432	polycythemia		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycythemia	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:9000052	Breech Presentation		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breech presentation	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:9001510	Funnel Chest		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:9001733	Tinnitus		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1350145	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:22610119|PMID:29610475
1585896	Med12	mediator complex subunit 12	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:9003133	Hypertelorism		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076
1585896	Med12	mediator complex subunit 12	gene	DOID:9003401	Hardikar Syndrome		ISO	RGD:1350145	D	RGD:7240710	20211222	OMIM			
1585896	Med12	mediator complex subunit 12	gene	DOID:9003401	Hardikar Syndrome		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: HARDIKAR SYNDROME	PMID:25741868|PMID:28492532|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076
1585896	Med12	mediator complex subunit 12	gene	DOID:9003417	Menorrhagia		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Menorrhagia	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:9003507	Premature Birth		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076
1585896	Med12	mediator complex subunit 12	gene	DOID:9003591	Telecanthus		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076
1585896	Med12	mediator complex subunit 12	gene	DOID:9003816	Macrocephaly		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:9004240	Phyllodes Tumor		ISO	RGD:1350145	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437033
1585896	Med12	mediator complex subunit 12	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:9004628	Ohdo Syndrome, X-Linked		ISO	RGD:1350145	D	RGD:12910951|PMID:23395478	20170629	RGD		DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human)	
1585896	Med12	mediator complex subunit 12	gene	DOID:9004628	Ohdo Syndrome, X-Linked		ISO	RGD:1350145	D	RGD:7240710	20140903	OMIM			
1585896	Med12	mediator complex subunit 12	gene	DOID:9004628	Ohdo Syndrome, X-Linked		ISO	RGD:1350145	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: OHDO SYNDROME, X-LINKED | ClinVar Annotator: match by term: Ohdo syndrome, X-linked	PMID:23395478|PMID:25741868|PMID:26338144|PMID:27500536|PMID:27620904|PMID:28492532|PMID:28518168|PMID:28794916|PMID:30006928|PMID:32174975|PMID:32461654|PMID:32682435|PMID:32715471|PMID:33057194|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:34573309|PMID:35982159|PMID:36066546|PMID:36271811|PMID:36413997
1585896	Med12	mediator complex subunit 12	gene	DOID:9004866	Ataxia		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyssynergia	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:9005077	Joint Instability		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:28492532|PMID:36801247
1585896	Med12	mediator complex subunit 12	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:9005592	Testicular Teratoma		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Testicular teratoma	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076
1585896	Med12	mediator complex subunit 12	gene	DOID:9005616	Micrognathism		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:27286923
1585896	Med12	mediator complex subunit 12	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1350145	D	RGD:12910947|PMID:24039113	20170629	RGD		DNA:duplication mutation:cds:c.5898dupC(p.S1967Qfs84)(human)	
1585896	Med12	mediator complex subunit 12	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1350145	D	RGD:12910952|PMID:17334363	20170629	RGD		DNA:missense mutation:cds:2881C>T(p.R961W)(human)	
1585896	Med12	mediator complex subunit 12	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076
1585896	Med12	mediator complex subunit 12	gene	DOID:9006947	Fibroadenoma		ISO	RGD:1350145	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25038752|PMID:26437033
1585896	Med12	mediator complex subunit 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532|PMID:30006928|PMID:32174975|PMID:33244166
1585896	Med12	mediator complex subunit 12	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:9007573	Flatfoot		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076
1585896	Med12	mediator complex subunit 12	gene	DOID:9007661	Dwarfism		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:9007722	Myoclonus		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eyelid myoclonus	PMID:25741868|PMID:28492532|PMID:36801247
1585896	Med12	mediator complex subunit 12	gene	DOID:9007736	Vertigo		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:9007898	FG Syndrome 1		ISO	RGD:1350145	D	RGD:7240710	20200226	OMIM			
1585896	Med12	mediator complex subunit 12	gene	DOID:9007898	FG Syndrome 1		ISO	RGD:1350145	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FG syndrome 1	PMID:17334363|PMID:20507344|PMID:23506379|PMID:25741868|PMID:27286923|PMID:28369444|PMID:28492532|PMID:28518168|PMID:28544239|PMID:30006928|PMID:30729724|PMID:31322785|PMID:31536828|PMID:32371413|PMID:32461654|PMID:33057194|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:36271811|PMID:36413997|PMID:39215511|PMID:39843441
1585896	Med12	mediator complex subunit 12	gene	DOID:9008023	Memory Disorders		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350145	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: global developmental delay	PMID:10405444|PMID:17334363|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20981778|PMID:23091001|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076
1585896	Med12	mediator complex subunit 12	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350145	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:30006928|PMID:32174975|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076
1585896	Med12	mediator complex subunit 12	gene	DOID:9008237	Hemimegalencephaly		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemimegalencephaly	PMID:25741868|PMID:28492532
1585896	Med12	mediator complex subunit 12	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350145	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25038752|PMID:26437033
1585896	Med12	mediator complex subunit 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585896	Med12	mediator complex subunit 12	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1585896	Med12	mediator complex subunit 12	gene	DOID:93	language disorder		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868
1585896	Med12	mediator complex subunit 12	gene	DOID:9834	hyperopia		ISO	RGD:1350145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1585897	Lpgat1	lysophosphatidylglycerol acyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1585897	Lpgat1	lysophosphatidylglycerol acyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1353817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585897	Lpgat1	lysophosphatidylglycerol acyltransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1585897	Lpgat1	lysophosphatidylglycerol acyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353817	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585897	Lpgat1	lysophosphatidylglycerol acyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585897	Lpgat1	lysophosphatidylglycerol acyltransferase 1	gene	DOID:9004657	Weight Gain		ISO	RGD:1353817	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
1585921	Lrrtm1	leucine rich repeat transmembrane neuronal 1	gene	DOID:5419	schizophrenia		ISS	RGD:1622254	D	RGD:13592920	20180518	MouseDO		OMIM:181500	
1585938	Tmem178b	transmembrane protein 178B	gene	DOID:1324	lung cancer		ISO	RGD:6767208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585938	Tmem178b	transmembrane protein 178B	gene	DOID:3275	thymoma		ISO	RGD:6767208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1585948	Cfap57	cilia and flagella associated protein 57	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585948	Cfap57	cilia and flagella associated protein 57	gene	DOID:0070594	spermatogenic failure 95		ISO	RGD:1603569	D	RGD:7240710	20240821	OMIM			
1585948	Cfap57	cilia and flagella associated protein 57	gene	DOID:12336	male infertility		ISS	RGD:1619670	D	RGD:13592920	20231005	MouseDO			
1585948	Cfap57	cilia and flagella associated protein 57	gene	DOID:4362	cervical cancer		ISO	RGD:1603569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585948	Cfap57	cilia and flagella associated protein 57	gene	DOID:9008934	Van der Woude Syndrome 2		ISO	RGD:1603569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Van der Woude syndrome 2	PMID:25741868
1585948	Cfap57	cilia and flagella associated protein 57	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585960	Smtnl2	smoothelin-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585960	Smtnl2	smoothelin-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1585960	Smtnl2	smoothelin-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585960	Smtnl2	smoothelin-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585988	Xaf1	XIAP associated factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585988	Xaf1	XIAP associated factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1585988	Xaf1	XIAP associated factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1585988	Xaf1	XIAP associated factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606793	D	RGD:11554173	20180220	CTD		CTD Direct Evidence: marker/mechanism	PMID:28122345
1585988	Xaf1	XIAP associated factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1585988	Xaf1	XIAP associated factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1585988	Xaf1	XIAP associated factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606793	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1585988	Xaf1	XIAP associated factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585988	Xaf1	XIAP associated factor 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1606793	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
1585988	Xaf1	XIAP associated factor 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606793	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17087954
1585988	Xaf1	XIAP associated factor 1	gene	DOID:9001488	Human Influenza		ISO	RGD:1606793	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
1585988	Xaf1	XIAP associated factor 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1606793	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:15843754|PMID:17087954
1585988	Xaf1	XIAP associated factor 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
1585988	Xaf1	XIAP associated factor 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1606793	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
1585988	Xaf1	XIAP associated factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585988	Xaf1	XIAP associated factor 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1606793	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17570219
1585988	Xaf1	XIAP associated factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1585989	Akirin1	akirin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585989	Akirin1	akirin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1585989	Akirin1	akirin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1585999	Kbtbd12	kelch repeat and BTB domain containing 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1585999	Kbtbd12	kelch repeat and BTB domain containing 12	gene	DOID:1324	lung cancer		ISO	RGD:1603549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1585999	Kbtbd12	kelch repeat and BTB domain containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1585999	Kbtbd12	kelch repeat and BTB domain containing 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586015	Tut7	terminal uridylyl transferase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586015	Tut7	terminal uridylyl transferase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586015	Tut7	terminal uridylyl transferase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586015	Tut7	terminal uridylyl transferase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586015	Tut7	terminal uridylyl transferase 7	gene	DOID:1115	sarcoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586015	Tut7	terminal uridylyl transferase 7	gene	DOID:1909	melanoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586015	Tut7	terminal uridylyl transferase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586015	Tut7	terminal uridylyl transferase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586015	Tut7	terminal uridylyl transferase 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1586015	Tut7	terminal uridylyl transferase 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1586015	Tut7	terminal uridylyl transferase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586015	Tut7	terminal uridylyl transferase 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1586015	Tut7	terminal uridylyl transferase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586015	Tut7	terminal uridylyl transferase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586017	Tatdn2	TatD DNase domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586017	Tatdn2	TatD DNase domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586017	Tatdn2	TatD DNase domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586017	Tatdn2	TatD DNase domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586017	Tatdn2	TatD DNase domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586017	Tatdn2	TatD DNase domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586017	Tatdn2	TatD DNase domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586017	Tatdn2	TatD DNase domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349644	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1586017	Tatdn2	TatD DNase domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586017	Tatdn2	TatD DNase domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1322871	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1322871	D	RGD:9068941	20220708	RGD		protein:increased expression:intrahepatic bile duct (human)	PMID:30377796|REF_RGD_ID:152998946
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586025	Magi1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586036	Cpne2	copine 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586036	Cpne2	copine 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319355	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586036	Cpne2	copine 2	gene	DOID:1909	melanoma		ISO	RGD:1319355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586036	Cpne2	copine 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586036	Cpne2	copine 2	gene	DOID:3275	thymoma		ISO	RGD:1319355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586036	Cpne2	copine 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1586036	Cpne2	copine 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586036	Cpne2	copine 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1586036	Cpne2	copine 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586036	Cpne2	copine 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1586036	Cpne2	copine 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:0111263	combined malonic and methylmalonic acidemia		ISO	RGD:1604214	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:0111263	combined malonic and methylmalonic acidemia		ISO	RGD:1604214	D	RGD:7240710	20141015	OMIM			
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:0111263	combined malonic and methylmalonic acidemia		ISO	RGD:1604214	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ACSF3-related disorder | ClinVar Annotator: match by term: COMBINED MALONIC AND METHYLMALONIC ACIDURIA | ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia | ClinVar Annotator: match by term: Combined malonic and methylmalonic aciduria	PMID:16199547|PMID:17576681|PMID:21785126|PMID:21841779|PMID:22421630|PMID:25640679|PMID:25741868|PMID:26827111|PMID:26915364|PMID:28492532|PMID:28924877|PMID:29144512|PMID:29555771|PMID:29858964|PMID:30041674|PMID:30487145|PMID:30609409|PMID:30642647|PMID:30740739|PMID:31376476|PMID:31462756|PMID:31589614|PMID:31980526|PMID:32327331|PMID:32980267|PMID:33003980|PMID:33223529|PMID:33625768|PMID:34900860|PMID:36413997|PMID:36608682|PMID:36717752|PMID:36978159|PMID:38536866|PMID:39581258|PMID:9030548|PMID:9536098
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1604214	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21841779
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1604214	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia | ClinVar Annotator: match by term: Methylmalonic acidemia	PMID:21785126|PMID:21841779|PMID:22421630|PMID:25741868|PMID:26827111|PMID:28492532|PMID:29144512|PMID:29858964|PMID:30041674|PMID:30740739|PMID:31376476|PMID:33003980|PMID:36608682|PMID:39581258|PMID:9030548
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:3275	thymoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604214	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:630	genetic disease		ISO	RGD:1604214	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21785126|PMID:21841779|PMID:22421630|PMID:25741868|PMID:28492532|PMID:29144512|PMID:29858964|PMID:30740739|PMID:31376476|PMID:33003980|PMID:36608682|PMID:39581258|PMID:9030548
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:9005126	Malonic Aciduria		ISO	RGD:1604214	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21841779
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:28492532
1586037	Acsf3	acyl-CoA synthetase family member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
1586038	Il34	interleukin 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586038	Il34	interleukin 34	gene	DOID:10534	stomach cancer		ISO	RGD:1602184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586038	Il34	interleukin 34	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1602184	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
1586038	Il34	interleukin 34	gene	DOID:4362	cervical cancer		ISO	RGD:1602184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586038	Il34	interleukin 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586038	Il34	interleukin 34	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1586038	Il34	interleukin 34	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586038	Il34	interleukin 34	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586040	Coq9	coenzyme Q9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586040	Coq9	coenzyme Q9	gene	DOID:0050730	coenzyme Q10 deficiency disease		ISS	RGD:1603980	D	RGD:13592920	20180518	MouseDO		OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654	
1586040	Coq9	coenzyme Q9	gene	DOID:0070242	primary coenzyme Q10 deficiency 5		ISO	RGD:1603980	D	RGD:7240710	20140911	OMIM			
1586040	Coq9	coenzyme Q9	gene	DOID:0070242	primary coenzyme Q10 deficiency 5		ISO	RGD:1603980	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: COQ9-related condition | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 5 | ClinVar Annotator: match by term: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	PMID:16199547|PMID:19375058|PMID:20495179|PMID:20689595|PMID:22490322|PMID:23255162|PMID:25741868|PMID:25802402|PMID:26081641|PMID:28492532|PMID:28736527|PMID:29255295|PMID:29560582|PMID:30482867
1586040	Coq9	coenzyme Q9	gene	DOID:1909	melanoma		ISO	RGD:1603980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:19375058|PMID:26081641|PMID:28492532
1586040	Coq9	coenzyme Q9	gene	DOID:3652	Leigh disease		ISO	RGD:1603980	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868|PMID:28492532
1586040	Coq9	coenzyme Q9	gene	DOID:5041	esophageal cancer		ISO	RGD:1603980	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586040	Coq9	coenzyme Q9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1586040	Coq9	coenzyme Q9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586040	Coq9	coenzyme Q9	gene	DOID:630	genetic disease		ISO	RGD:1603980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:29560582|PMID:9536098
1586040	Coq9	coenzyme Q9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586040	Coq9	coenzyme Q9	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1603980	D	RGD:11554173	20180703	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
1586052	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586052	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586052	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:1909	melanoma		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586052	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1586052	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586052	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:6039	uveal melanoma		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1586052	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586052	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586052	Ankdd1a	ankyrin repeat and death domain containing 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586053	Pif1	PIF1 5'-to-3' DNA helicase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586053	Pif1	PIF1 5'-to-3' DNA helicase	gene	DOID:1115	sarcoma		ISO	RGD:1316743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586053	Pif1	PIF1 5'-to-3' DNA helicase	gene	DOID:1324	lung cancer		ISO	RGD:1316743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586053	Pif1	PIF1 5'-to-3' DNA helicase	gene	DOID:1909	melanoma		ISO	RGD:1316743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586053	Pif1	PIF1 5'-to-3' DNA helicase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586053	Pif1	PIF1 5'-to-3' DNA helicase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1586053	Pif1	PIF1 5'-to-3' DNA helicase	gene	DOID:5041	esophageal cancer		ISO	RGD:1316743	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586053	Pif1	PIF1 5'-to-3' DNA helicase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586053	Pif1	PIF1 5'-to-3' DNA helicase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586053	Pif1	PIF1 5'-to-3' DNA helicase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586096	Pcmtd1	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586096	Pcmtd1	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1602190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586096	Pcmtd1	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1602190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586096	Pcmtd1	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1586096	Pcmtd1	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586146	Rgs20	regulator of G-protein signaling 20	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586146	Rgs20	regulator of G-protein signaling 20	gene	DOID:1115	sarcoma		ISO	RGD:1312560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586146	Rgs20	regulator of G-protein signaling 20	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586146	Rgs20	regulator of G-protein signaling 20	gene	DOID:3275	thymoma		ISO	RGD:1312560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586146	Rgs20	regulator of G-protein signaling 20	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1586146	Rgs20	regulator of G-protein signaling 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586149	Klrb1a	killer cell lectin like receptor subfamily B member 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586149	Klrb1a	killer cell lectin like receptor subfamily B member 1A	gene	DOID:0080600	COVID-19		ISO	RGD:1343225	D	RGD:9068941	20200613	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1586149	Klrb1a	killer cell lectin like receptor subfamily B member 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586149	Klrb1a	killer cell lectin like receptor subfamily B member 1A	gene	DOID:1324	lung cancer		ISO	RGD:1343225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586149	Klrb1a	killer cell lectin like receptor subfamily B member 1A	gene	DOID:1909	melanoma		ISO	RGD:1343225	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17295095
1586149	Klrb1a	killer cell lectin like receptor subfamily B member 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1343225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586149	Klrb1a	killer cell lectin like receptor subfamily B member 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586150	Tamm41	TAM41 mitochondrial translocator assembly and maintenance homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586150	Tamm41	TAM41 mitochondrial translocator assembly and maintenance homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586150	Tamm41	TAM41 mitochondrial translocator assembly and maintenance homolog	gene	DOID:0070429	combined oxidative phosphorylation deficiency 56		ISO	RGD:1602301	D	RGD:7240710	20221214	OMIM			
1586150	Tamm41	TAM41 mitochondrial translocator assembly and maintenance homolog	gene	DOID:0070429	combined oxidative phosphorylation deficiency 56		ISO	RGD:1602301	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 56 | ClinVar Annotator: match by term: TAMM41-related condition	PMID:25741868|PMID:35321494
1586150	Tamm41	TAM41 mitochondrial translocator assembly and maintenance homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1602301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586150	Tamm41	TAM41 mitochondrial translocator assembly and maintenance homolog	gene	DOID:1909	melanoma		ISO	RGD:1602301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586150	Tamm41	TAM41 mitochondrial translocator assembly and maintenance homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586150	Tamm41	TAM41 mitochondrial translocator assembly and maintenance homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1602301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586150	Tamm41	TAM41 mitochondrial translocator assembly and maintenance homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1586150	Tamm41	TAM41 mitochondrial translocator assembly and maintenance homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586150	Tamm41	TAM41 mitochondrial translocator assembly and maintenance homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586150	Tamm41	TAM41 mitochondrial translocator assembly and maintenance homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586153	Fam149a	family with sequence similarity 149, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586153	Fam149a	family with sequence similarity 149, member A	gene	DOID:1115	sarcoma		ISO	RGD:1604030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586153	Fam149a	family with sequence similarity 149, member A	gene	DOID:1909	melanoma		ISO	RGD:1604030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586153	Fam149a	family with sequence similarity 149, member A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586153	Fam149a	family with sequence similarity 149, member A	gene	DOID:3275	thymoma		ISO	RGD:1604030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586153	Fam149a	family with sequence similarity 149, member A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1586153	Fam149a	family with sequence similarity 149, member A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1586153	Fam149a	family with sequence similarity 149, member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1604030	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586153	Fam149a	family with sequence similarity 149, member A	gene	DOID:6039	uveal melanoma		ISO	RGD:1604030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1586153	Fam149a	family with sequence similarity 149, member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586153	Fam149a	family with sequence similarity 149, member A	gene	DOID:9256	colorectal cancer		ISO	RGD:1604030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1350637	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:28343847|PMID:28492532|PMID:33644862|PMID:36450898
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:0060058	lymphoma		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:10534	stomach cancer		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:1059	intellectual disability		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:31409799
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:1115	sarcoma		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:1324	lung cancer		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1350637	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1350637	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20601956
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:8692	myeloid leukemia		ISO	RGD:1350637	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:16932348
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350637	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: TOP2B-related neurodevelopmental disorder	PMID:25741868|PMID:28492532
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:9007742	B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations		ISO	RGD:1350637	D	RGD:7240710	20211110	OMIM			
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:9007742	B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations		ISO	RGD:1350637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: B-CELL IMMUNODEFICIENCY, DISTAL LIMB ANOMALIES, AND UROGENITAL MALFORMATIONS | ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | ClinVar Annotator: match by term: TOP2B-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:31409799|PMID:609296|PMID:9536098
1586156	Top2b	DNA topoisomerase II beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
1586163	Dmxl2	Dmx-like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586163	Dmxl2	Dmx-like 2	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1347338	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness	PMID:25741868|PMID:28492532|PMID:32870266
1586163	Dmxl2	Dmx-like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586163	Dmxl2	Dmx-like 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347338	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
1586163	Dmxl2	Dmx-like 2	gene	DOID:0080267	autosomal dominant nonsyndromic deafness 71		ISO	RGD:1347338	D	RGD:7240710	20190315	OMIM			
1586163	Dmxl2	Dmx-like 2	gene	DOID:0080267	autosomal dominant nonsyndromic deafness 71		ISO	RGD:1347338	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 71 | ClinVar Annotator: match by term: Deafness, autosomal dominant 71	PMID:25741868|PMID:27657680|PMID:28492532|PMID:35802133|PMID:36633841
1586163	Dmxl2	Dmx-like 2	gene	DOID:0112217	developmental and epileptic encephalopathy 81		ISO	RGD:1347338	D	RGD:7240710	20191211	OMIM			
1586163	Dmxl2	Dmx-like 2	gene	DOID:0112217	developmental and epileptic encephalopathy 81		ISO	RGD:1347338	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81	PMID:25741868|PMID:28492532
1586163	Dmxl2	Dmx-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
1586163	Dmxl2	Dmx-like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586163	Dmxl2	Dmx-like 2	gene	DOID:1115	sarcoma		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586163	Dmxl2	Dmx-like 2	gene	DOID:1324	lung cancer		ISO	RGD:1347338	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
1586163	Dmxl2	Dmx-like 2	gene	DOID:13938	amenorrhea		ISO	RGD:1347338	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:25741868|PMID:28492532|PMID:32870266
1586163	Dmxl2	Dmx-like 2	gene	DOID:1909	melanoma		ISO	RGD:1347338	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1586163	Dmxl2	Dmx-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
1586163	Dmxl2	Dmx-like 2	gene	DOID:3275	thymoma		ISO	RGD:1347338	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1586163	Dmxl2	Dmx-like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1586163	Dmxl2	Dmx-like 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1586163	Dmxl2	Dmx-like 2	gene	DOID:4189	mutism		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	PMID:25741868|PMID:28492532
1586163	Dmxl2	Dmx-like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
1586163	Dmxl2	Dmx-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347338	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586163	Dmxl2	Dmx-like 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1586163	Dmxl2	Dmx-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586163	Dmxl2	Dmx-like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1586163	Dmxl2	Dmx-like 2	gene	DOID:630	genetic disease		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1586163	Dmxl2	Dmx-like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1586163	Dmxl2	Dmx-like 2	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:1347338	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: pituitary stalk interruption syndrome	PMID:25741868
1586163	Dmxl2	Dmx-like 2	gene	DOID:9004244	Polyendocrine-Polyneuropathy Syndrome		ISO	RGD:1347338	D	RGD:7240710	20150311	OMIM			
1586163	Dmxl2	Dmx-like 2	gene	DOID:9004244	Polyendocrine-Polyneuropathy Syndrome		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyendocrine-polyneuropathy syndrome	PMID:25248098|PMID:25741868|PMID:28492532|PMID:36515421
1586163	Dmxl2	Dmx-like 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25248098|PMID:25741868|PMID:28492532|PMID:36515421
1586163	Dmxl2	Dmx-like 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:30311386
1586163	Dmxl2	Dmx-like 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25248098|PMID:25741868|PMID:28492532|PMID:36515421
1586163	Dmxl2	Dmx-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586163	Dmxl2	Dmx-like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586163	Dmxl2	Dmx-like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:22795537|PMID:25574841|PMID:25741868|PMID:25810209|PMID:28120103|PMID:28492532|PMID:29574747|PMID:30549396|PMID:31157197|PMID:31337854|PMID:38397201
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0050581	brachydactyly		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35904121
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0050840	cervical dystonia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:33043602
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35163737
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1347719	D	RGD:1625285|PMID:8361504	20070531	RGD			
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060260	ptosis		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:33783954|PMID:37025457
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060261	congenital ptosis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ptosis	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060320	inguinal hernia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060321	umbilical hernia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0080505	Cornelia de Lange syndrome 1		ISO	RGD:1347719	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cornelia de Lange syndrome 1	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0080703	medulloblastoma SHH activated		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated	PMID:25998713|PMID:27993330|PMID:32461620|PMID:33503190|PMID:35328068|PMID:35505597
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0080833	laryngomalacia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0081082	acute myelomonocytic leukemia		ISO	RGD:1347719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8282816
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35163737|PMID:35904121
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:10283	prostate cancer		ISO	RGD:1347719	D	RGD:9587761|PMID:24200674	20141016	RGD		mRNA:decreased expression:prostate gland (human)	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:10348	blepharophimosis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35163737|PMID:35904121
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1347719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17463288
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:10376	amblyopia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:10426	Klippel-Feil syndrome		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Klippel-Feil syndrome	PMID:25741868|PMID:33043602
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1059	intellectual disability		ISO	RGD:1347719	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:28600779|PMID:29276005|PMID:29574747|PMID:31785789
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1059	intellectual disability		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: intellectual disability | ClinVar Annotator: match by term: moderate intellectual disability	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29276005|PMID:29574747|PMID:30305169|PMID:30315573|PMID:31785789|PMID:33043602|PMID:35904121|PMID:39825153
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1059	intellectual disability		ISO	RGD:1347719	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: intellectual disability | ClinVar Annotator: match by term: moderate intellectual disability	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29276005|PMID:29574747|PMID:30305169|PMID:30315573|PMID:31785789|PMID:33043602|PMID:35904121
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1059	intellectual disability		ISO	RGD:1347719	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: intellectual disability | ClinVar Annotator: match by term: moderate intellectual disability	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29276005|PMID:29574747|PMID:30305169|PMID:30315573|PMID:31785789|PMID:33043602|PMID:35904121|PMID:35982159|PMID:37025457
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:10629	microphthalmia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral microphthalmos	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:10869	fourth cranial nerve palsy		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fourth cranial nerve palsy	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:10892	hypospadias		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:10907	microcephaly		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29574747|PMID:33043602|PMID:33783954|PMID:35163737|PMID:37025457|PMID:38170291
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:33043602
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:10965	spastic diplegia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822268
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:11111	hydronephrosis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:33043602|PMID:35163737
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1115	sarcoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:11383	cryptorchidism		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1143	exotropia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1148	polydactyly		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:11782	astigmatism		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:33043602
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:11830	myopia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:33043602
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:11836	clubfoot		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:22795537|PMID:25810209|PMID:28492532|PMID:29574747|PMID:33783954|PMID:37025457
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:12128	pica disease		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pica	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1240	leukemia		ISO	RGD:1347719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11731795|PMID:12937054
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:12849	autistic disorder		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:29203834|PMID:29574747|PMID:30315573|PMID:33043602
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1324	lung cancer		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:13620	patent foramen ovale		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1588	thrombocytopenia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1602	lymphadenitis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphadenitis	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1657	ventricular septal defect		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1826	epilepsy		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:29203834|PMID:29574747|PMID:30315573|PMID:33043602
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1909	melanoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:1969	cerebral palsy		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:2030	anxiety disorder		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:224	transient cerebral ischemia	treatment	IMP		D	RGD:155888565|PMID:34694864	20230208	RGD			
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:2340	craniosynostosis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:2361	macrocytic anemia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocytic anemia	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1347719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822268
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:299	adenocarcinoma		ISO	RGD:1347719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22484628
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:3070	high grade glioma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:3087	gingivitis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:3312	bipolar disorder		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868|PMID:28492532
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:3315	lipoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lipoma	PMID:25741868|PMID:29574747
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal cortex carcinoma	PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29574747|PMID:38170291
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:420	hypertrichosis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1347719	D	RGD:9588221|PMID:22926525	20141022	RGD		human gene in a mouse model	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:4971	myelofibrosis	exacerbates	ISO	RGD:1347719	D	RGD:156420157|PMID:35731275	20230217	RGD		DOID:4971DNA:mutations:multiple (human)	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:4977	lymphedema		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1347719	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1347719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941188
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:18414213|PMID:25741868|PMID:26690532|PMID:29574747
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:630	genetic disease		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:22795537|PMID:25356970|PMID:25574841|PMID:25741868|PMID:25810209|PMID:26690532|PMID:27759909|PMID:27959697|PMID:28120103|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29453417|PMID:29574747|PMID:30138938|PMID:30315573|PMID:30549396|PMID:31157197|PMID:31337854|PMID:32368696|PMID:33043602|PMID:33084842|PMID:33783954|PMID:35163737|PMID:37025457|PMID:38170291|PMID:38397201
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:6543	acne		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22634756
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:784	chronic kidney disease		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35163737
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:8499	night blindness		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Night blindness	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:865	vasculitis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:8692	myeloid leukemia		ISO	RGD:1347719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8282816|PMID:17463288
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:8864	acute monocytic leukemia		ISO	RGD:1347719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:8282816
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9000058	Keloid		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keloid	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35904121
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9000197	Edema		ISO	RGD:1347719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Edema	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1347719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22484628
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9000647	Acute Erythroleukemia		ISO	RGD:1347719	D	RGD:11554173	20190507	CTD		CTD Direct Evidence: marker/mechanism	PMID:30926971
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9000962	Snoring		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Snoring	PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29574747|PMID:38170291
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9000972	Fever		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9001255	Kabuki Syndrome 1		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kabuki syndrome 1	PMID:25741868|PMID:29255178|PMID:32109418|PMID:35163737
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:33783954|PMID:37025457
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35904121
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9001581	Constipation		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9001722	Dysarthria		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35163737
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9002112	Wiedemann-Steiner syndrome		ISO	RGD:1347719	D	RGD:7240710	20141015	OMIM			
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9002112	Wiedemann-Steiner syndrome		ISO	RGD:1347719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Growth deficiency and mental retardation with facial dysmorphism | ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: WIEDEMANN-STEINER SYNDROME | ClinVar Annotator: match by term: Wiedemann-Steiner Syndrome | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome	PMID:16199547|PMID:16757948|PMID:17352659|PMID:17576681|PMID:18414213|PMID:22795537|PMID:24088041|PMID:24818805|PMID:25239263|PMID:25326637|PMID:25356970|PMID:25574841|PMID:25724810|PMID:25741868|PMID:25741869|PMID:25810209|PMID:26544196|PMID:26633545|PMID:26690532|PMID:27441994|PMID:27759909|PMID:27959697|PMID:28120103|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29276005|PMID:29276034|PMID:29574747|PMID:29758562|PMID:30305169|PMID:30315573|PMID:30549396|PMID:31044088|PMID:31157197|PMID:31337854|PMID:32720330|PMID:33004838|PMID:33043602|PMID:33783954|PMID:35101336|PMID:35163737|PMID:35727845|PMID:35904121|PMID:35982159|PMID:36479909|PMID:37025457|PMID:38170291|PMID:38177409|PMID:38397201|PMID:5519603|PMID:9536098
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347719	D	RGD:11554173	20180515	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9003132	Sialorrhea		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9003137	Photophobia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Crackles	PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29574747|PMID:38170291
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9003591	Telecanthus		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9004327	Colpocephaly		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1347719	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1347719	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:22795537|PMID:25574841|PMID:25741868|PMID:25810209|PMID:28120103|PMID:28492532|PMID:29574747|PMID:31157197|PMID:31337854
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9004507	Hirsutism		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29574747|PMID:30305169|PMID:30315573|PMID:33043602|PMID:35163737|PMID:38170291
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9004814	Chromosome Aberrations		ISO	RGD:1347719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:24736461
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9004866	Ataxia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Incoordination	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532|PMID:29203834|PMID:29574747|PMID:30315573|PMID:33043602
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia | ClinVar Annotator: match by term: hypotonia	PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29574747|PMID:30315573|PMID:33043602|PMID:38170291
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9005616	Micrognathism		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:28492532
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9005985	Rubinstein Taybi like Syndrome		ISO	RGD:1347719	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rubinstein-Taybi syndrome-like	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:10900	D	RGD:155888490|PMID:31570196	20230207	RGD		protein:increased expression:kidney (mouse)	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9006846	Dysuria		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysuria	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9006875	Sutton Disease 2		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent aphthous stomatitis	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9007388	Heterochromia Iridis		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heterochromia iridis	PMID:28492532
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9007573	Flatfoot		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532|PMID:29203834|PMID:29574747|PMID:30315573|PMID:33043602
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9007661	Dwarfism		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature	PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29574747|PMID:30305169|PMID:30315573|PMID:33043602|PMID:33783954|PMID:35904121|PMID:37025457|PMID:38170291
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9007892	Tics		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22795537|PMID:25574841|PMID:25741868|PMID:25810209|PMID:28120103|PMID:28492532|PMID:29203834|PMID:29574747|PMID:30315573|PMID:30549396|PMID:31157197|PMID:31337854|PMID:33043602|PMID:33783954|PMID:35163737|PMID:37025457|PMID:38397201
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9008214	Genu Valgum		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:28492532
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9008385	Vomiting		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9008582	Developmental Disease		ISO	RGD:1347719	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9008675	Dyskinesias		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347719	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10339604|PMID:26237430
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347719	D	RGD:1625285|PMID:8361504	20070531	RGD			
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9119	acute myeloid leukemia		ISS	RGD:10900	D	RGD:13592920	20230718	MouseDO		OMIM:601626	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9119	acute myeloid leukemia	ameliorates	ISO	RGD:10900	D	RGD:11530086|PMID:26927674	20230208	RGD			
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1347719	D	RGD:155888491|PMID:33542482	20230207	RGD		human cell line in a mouse model	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:93	language disorder		ISO	RGD:1347719	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868|PMID:27353043|PMID:28492532
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:930	orbital disease		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:936	brain disease		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532|PMID:29203834|PMID:29574747|PMID:30315573|PMID:33043602
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:29574747|PMID:35163737
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9834	hyperopia		ISO	RGD:1347719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1347719	D	RGD:11554173	20200326	CTD		CTD Direct Evidence: marker/mechanism	PMID:24736461|PMID:25730765
1586165	Kmt2a	lysine methyltransferase 2A	gene	DOID:9952	acute lymphoblastic leukemia		ISS	RGD:10900	D	RGD:13592920	20230718	MouseDO		OMIM:247640 | OMIM:613065	
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:0050581	brachydactyly		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318006	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:0080019	metaphyseal dysplasia		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyle metaphyseal dysplasia	PMID:25741868
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:0080054	achondrogenesis type IA		ISO	RGD:1318006	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:0080054	achondrogenesis type IA		ISO	RGD:1318006	D	RGD:7240710	20130221	OMIM			
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:0080054	achondrogenesis type IA		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ACHONDROGENESIS, TYPE IA | ClinVar Annotator: match by term: Achondrogenesis, type IA	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20089971|PMID:20307669|PMID:22406018|PMID:23956106|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29620724|PMID:30609409|PMID:30728324|PMID:31903676|PMID:33057194|PMID:33578785|PMID:34057271|PMID:35982159|PMID:9536098
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:0080054	achondrogenesis type IA		ISS	RGD:1557313	D	RGD:13592920	20230718	MouseDO		OMIM:200600	
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:1115	sarcoma		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:11714	gestational diabetes		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:1909	melanoma		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1318006	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia | ClinVar Annotator: match by term: TRIP11-related condition | ClinVar Annotator: match by term: TRIP11-related skeletal dysplasia	PMID:25741868|PMID:28492532
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:3275	thymoma		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:4362	cervical cancer		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1318006	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:630	genetic disease		ISO	RGD:1318006	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:65	connective tissue disease		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:9003459	Odontochondrodysplasia 1		ISO	RGD:1318006	D	RGD:7240710	20210414	OMIM			
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:9003459	Odontochondrodysplasia 1		ISO	RGD:1318006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ODONTOCHONDRODYSPLASIA 1 | ClinVar Annotator: match by term: Odontochondrodysplasia 1	PMID:25741868|PMID:28492532|PMID:30728324
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17576681|PMID:24033266|PMID:28492532|PMID:30609409|PMID:33578785|PMID:9536098
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:9007661	Dwarfism		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
1586166	Trip11	thyroid hormone receptor interactor 11	gene	DOID:9256	colorectal cancer		ISO	RGD:1318006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:17160906|PMID:18327255|PMID:25741868|PMID:28289063|PMID:28492532|PMID:32483926
1586167	Tmem67	transmembrane protein 67	gene	DOID:0050545	visceral heterotaxy		ISS	RGD:1316347	D	RGD:13592920	20180518	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:18414213|PMID:25741868|PMID:28492532|PMID:29127258
1586167	Tmem67	transmembrane protein 67	gene	DOID:0050581	brachydactyly		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:19763152|PMID:20232449|PMID:20307669|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22406018|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25326635|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26075130|PMID:26092869|PMID:26123494|PMID:26191240|PMID:26260382|PMID:26275793|PMID:26467025|PMID:26729329|PMID:27434533|PMID:27894351|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29261186|PMID:29568536|PMID:29947050|PMID:29974258|PMID:30403813|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31589614|PMID:31730820|PMID:31738409|PMID:32000717|PMID:32058062|PMID:32483926|PMID:33532864|PMID:34032358|PMID:34426522|PMID:34448047|PMID:34645491|PMID:34675960|PMID:34731008|PMID:34964473|PMID:35140360|PMID:35229910|PMID:35506549|PMID:35764379|PMID:36008300|PMID:36090483|PMID:36221156|PMID:36703223|PMID:37730223|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Meckel Gruber syndrome | ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16199547|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24033266|PMID:24039893|PMID:25326635|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26191240|PMID:26467025|PMID:26729329|PMID:27894351|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29568536|PMID:29974258|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32483926|PMID:34426522|PMID:34448047|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36090483|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:0050778	Meckel syndrome		ISS	RGD:1316347	D	RGD:13592920	20180518	MouseDO			
1586167	Tmem67	transmembrane protein 67	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:16199547|PMID:19540516|PMID:20232449|PMID:23559409|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:0050952	spastic ataxia		ISO	RGD:1606753	D	RGD:8554872	20211012	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
1586167	Tmem67	transmembrane protein 67	gene	DOID:0060340	ciliopathy		ISO	RGD:1606753	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Ciliopathy | ClinVar Annotator: match by term: ciliopathy	PMID:25741868|PMID:28492532|PMID:28771248
1586167	Tmem67	transmembrane protein 67	gene	DOID:0061215	hepatic fibrosis		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:17377820|PMID:17397051|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29891882|PMID:9375913
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:17160906|PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29891882|PMID:9375913
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16199547|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22277662|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29974258|PMID:30476936|PMID:34032358|PMID:34964473|PMID:36938085|PMID:9375913|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome type 1	PMID:16199547|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:21633164|PMID:21866095|PMID:22277662|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27894351|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32483926|PMID:34426522|PMID:34448047|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36938085|PMID:9375913|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome type 1	PMID:16199547|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27894351|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29568536|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32483926|PMID:34426522|PMID:34448047|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36090483|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070117	Meckel syndrome 3		IAGP		D	RGD:11535082|PMID:16415887	20160920	RGD		DNA:missense mutation:exon:p.P394L (rat)	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070117	Meckel syndrome 3		ISO	RGD:1316347	D	RGD:11535945|PMID:19211713	20160922	RGD		DNA:deletion	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070117	Meckel syndrome 3		ISO	RGD:1316347	D	RGD:329950577|PMID:26035863	20230706	RGD			
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070117	Meckel syndrome 3		ISO	RGD:1606753	D	RGD:11063991|PMID:17397051	20160920	RGD		DNA:missense mutations, splice-site mutation:exon:multiple	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070117	Meckel syndrome 3		ISO	RGD:1606753	D	RGD:11068761|PMID:17377820	20160920	RGD		DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human)	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070117	Meckel syndrome 3		ISO	RGD:1606753	D	RGD:11535078|PMID:23351400	20160920	RGD		DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human)	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070117	Meckel syndrome 3		ISO	RGD:1606753	D	RGD:11535080|PMID:26191240	20160920	RGD		DNA:missense mutation:exon:p.R549C (c.1645C>T) (human)	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070117	Meckel syndrome 3		ISO	RGD:1606753	D	RGD:11535082|PMID:16415887	20160920	RGD		DNA:deletions, missense mutation, splice-site mutations: :multiple	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070117	Meckel syndrome 3		ISO	RGD:1606753	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070117	Meckel syndrome 3		ISO	RGD:1606753	D	RGD:7240710	20130221	OMIM			
1586167	Tmem67	transmembrane protein 67	gene	DOID:0070117	Meckel syndrome 3		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MECKEL SYNDROME 3 | ClinVar Annotator: match by term: MECKEL SYNDROME, TYPE 3 | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome type 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3	PMID:16199547|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21866095|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26191240|PMID:26275793|PMID:26467025|PMID:26729329|PMID:27894351|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29261186|PMID:29568536|PMID:29974258|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31411728|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32483926|PMID:34032358|PMID:34426522|PMID:34448047|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36090483|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1606753	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:25741868|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:19058225|PMID:20232449|PMID:23559409|PMID:25741868|PMID:26092869|PMID:26729329|PMID:28431631|PMID:28492532|PMID:29146704
1586167	Tmem67	transmembrane protein 67	gene	DOID:0110136	Bardet-Biedl syndrome 14		ISO	RGD:1606753	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0110136	Bardet-Biedl syndrome 14		ISO	RGD:1606753	D	RGD:7240710	20171011	OMIM			
1586167	Tmem67	transmembrane protein 67	gene	DOID:0110136	Bardet-Biedl syndrome 14		ISO	RGD:1606753	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 14	PMID:17397051|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29127258
1586167	Tmem67	transmembrane protein 67	gene	DOID:0110136	Bardet-Biedl syndrome 14		ISO	RGD:1606753	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 14	PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29891882|PMID:9375913
1586167	Tmem67	transmembrane protein 67	gene	DOID:0110136	Bardet-Biedl syndrome 14		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 14	PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21866095|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26191240|PMID:26729329|PMID:27894351|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29568536|PMID:29974258|PMID:30476936|PMID:31730820|PMID:32000717|PMID:34032358|PMID:36090483|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:0110861	autosomal recessive polycystic kidney disease		IAGP		D	RGD:1300514|PMID:11095650	20201210	RGD			
1586167	Tmem67	transmembrane protein 67	gene	DOID:0110861	autosomal recessive polycystic kidney disease		IAGP		D	RGD:14995942|PMID:30705305	20191111	RGD			
1586167	Tmem67	transmembrane protein 67	gene	DOID:0110861	autosomal recessive polycystic kidney disease		IAGP		D	RGD:15014788|PMID:15052665	20201210	RGD			
1586167	Tmem67	transmembrane protein 67	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:10567047|PMID:12368986|PMID:16199547|PMID:16415887|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:19763152|PMID:20232449|PMID:20307669|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22406018|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24033266|PMID:24039893|PMID:25326635|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26075130|PMID:26092869|PMID:26123494|PMID:26191240|PMID:26275793|PMID:26467025|PMID:26477546|PMID:26546361|PMID:26729329|PMID:27434533|PMID:27457812|PMID:27491411|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29261186|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29947050|PMID:29974258|PMID:30029678|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31411728|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32058062|PMID:32404165|PMID:33532864|PMID:34006472|PMID:34032358|PMID:34645491|PMID:34675960|PMID:34964473|PMID:35229910|PMID:36221156|PMID:36617405|PMID:36703223|PMID:8862632|PMID:9375913|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:10567047|PMID:12368986|PMID:16199547|PMID:16415887|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:19763152|PMID:20232449|PMID:20307669|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22406018|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24033266|PMID:24039893|PMID:25326635|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26075130|PMID:26092869|PMID:26123494|PMID:26191240|PMID:26275793|PMID:26467025|PMID:26477546|PMID:26546361|PMID:26729329|PMID:27434533|PMID:27457812|PMID:27491411|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29261186|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29947050|PMID:29974258|PMID:30029678|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31411728|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32058062|PMID:32404165|PMID:33532864|PMID:34006472|PMID:34032358|PMID:34645491|PMID:34675960|PMID:34964473|PMID:35229910|PMID:36090483|PMID:36221156|PMID:36617405|PMID:36703223|PMID:8862632|PMID:9375913|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:10567047|PMID:12368986|PMID:16199547|PMID:16415887|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:19763152|PMID:20232449|PMID:20307669|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22277662|PMID:22406018|PMID:22700954|PMID:22773737|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24033266|PMID:24039893|PMID:25326635|PMID:25326637|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26075130|PMID:26092869|PMID:26123494|PMID:26191240|PMID:26275793|PMID:26467025|PMID:26477546|PMID:26546361|PMID:26729329|PMID:27434533|PMID:27457812|PMID:27491411|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29261186|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29947050|PMID:29974258|PMID:30029678|PMID:30266093|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31411728|PMID:31589614|PMID:31730820|PMID:31738409|PMID:32000717|PMID:32058062|PMID:32404165|PMID:32483926|PMID:32939031|PMID:33532864|PMID:34006472|PMID:34032358|PMID:34426522|PMID:34448047|PMID:34645491|PMID:34675960|PMID:34964473|PMID:35140360|PMID:35229910|PMID:35764379|PMID:36090483|PMID:36221156|PMID:36617405|PMID:36703223|PMID:36938085|PMID:8862632|PMID:9375913|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27894351|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29568536|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32483926|PMID:34426522|PMID:34448047|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36090483|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111001	Joubert syndrome 6		ISO	RGD:1606753	D	RGD:11072184|PMID:17160906	20160920	RGD		DNA:missense mutations, splice-site mutations: :multiple	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111001	Joubert syndrome 6		ISO	RGD:1606753	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111001	Joubert syndrome 6		ISO	RGD:1606753	D	RGD:7240710	20130221	OMIM			
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111001	Joubert syndrome 6		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 6 | ClinVar Annotator: match by term: Joubert syndrome 6	PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26191240|PMID:26467025|PMID:26729329|PMID:27434533|PMID:27894351|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28508964|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29568536|PMID:29974258|PMID:30055837|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31319225|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32404165|PMID:32483926|PMID:34006472|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36090483|PMID:36305856|PMID:36617405|PMID:39849212|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111001	Joubert syndrome 6		ISS	RGD:1316347	D	RGD:13592920	20230718	MouseDO		OMIM:610688	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1606753	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:17160906|PMID:18327255|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28289063|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:17397051|PMID:18327255|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:22700954|PMID:23351400|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:28497568|PMID:29568536|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111118	nephronophthisis 11		ISO	RGD:1606753	D	RGD:11535941|PMID:19508969	20160922	RGD		DNA:missense mutations: :multiple	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111118	nephronophthisis 11		ISO	RGD:1606753	D	RGD:11535942|PMID:20607301	20160922	RGD		DNA:missense mutations: :p.C615R (c.1843T>C), p.Q747E (c.2239C>G) (human)	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111118	nephronophthisis 11		ISO	RGD:1606753	D	RGD:7240710	20130221	OMIM			
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111118	nephronophthisis 11		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEPHRONOPHTHISIS 11 | ClinVar Annotator: match by term: Nephronophthisis 11	PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21866095|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26191240|PMID:26467025|PMID:26729329|PMID:27894351|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29568536|PMID:29974258|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32483926|PMID:33532864|PMID:34645491|PMID:34675960|PMID:34964473|PMID:35621037|PMID:36090483|PMID:37910852|PMID:38374194|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111589	COACH syndrome		ISO	RGD:1606753	D	RGD:11535944|PMID:19058225	20160922	RGD		DNA:missense mutations: :multiple	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111589	COACH syndrome		ISO	RGD:1606753	D	RGD:11535946|PMID:19574260	20160922	RGD		DNA:missense mutations: :multiple	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111589	COACH syndrome		ISO	RGD:1606753	D	RGD:11554173	20201217	CTD		CTD Direct Evidence: marker/mechanism	
1586167	Tmem67	transmembrane protein 67	gene	DOID:0111589	COACH syndrome		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COACH SYNDROME	PMID:17576681|PMID:19058225|PMID:21866095|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:10534	stomach cancer		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:18327255|PMID:18414213|PMID:19574260|PMID:25741868|PMID:28492532|PMID:32483926|PMID:34426522|PMID:34448047
1586167	Tmem67	transmembrane protein 67	gene	DOID:1059	intellectual disability		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:29127258|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:1074	kidney failure		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kidney failure | ClinVar Annotator: match by term: Renal insufficiency	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:10762	portal hypertension		ISO	RGD:1606753	D	RGD:329951005|PMID:29112083	20230706	RGD		associated with Joubert syndrome 6;DNA:mutations:multiple (human)	
1586167	Tmem67	transmembrane protein 67	gene	DOID:10907	microcephaly		ISO	RGD:1606753	D	RGD:8554872	20200908	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
1586167	Tmem67	transmembrane protein 67	gene	DOID:10908	hydrocephalus		IAGP		D	RGD:14995942|PMID:30705305	20191111	RGD			
1586167	Tmem67	transmembrane protein 67	gene	DOID:10908	hydrocephalus		IAGP		D	RGD:15014788|PMID:15052665	20201210	RGD			
1586167	Tmem67	transmembrane protein 67	gene	DOID:10908	hydrocephalus		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:19508969|PMID:25741868
1586167	Tmem67	transmembrane protein 67	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586167	Tmem67	transmembrane protein 67	gene	DOID:1148	polydactyly		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:18414213|PMID:25741868|PMID:28492532|PMID:29127258
1586167	Tmem67	transmembrane protein 67	gene	DOID:12215	oligohydramnios		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anhydramnios | ClinVar Annotator: match by term: Oligohydramnios	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:35005812|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:12270	coloboma		ISO	RGD:1606753	D	RGD:329901759|PMID:29146704	20230706	RGD		associated with Joubert syndrome 6;DNA:mutations:multiple (human)	
1586167	Tmem67	transmembrane protein 67	gene	DOID:12270	coloboma		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:12450	pancytopenia		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:12712	nephronophthisis		ISO	RGD:1606753	D	RGD:329951006|PMID:29956005	20230706	RGD		associated with liver cirrhosis;DNA:missense mutations:CDS:multiple (human)	
1586167	Tmem67	transmembrane protein 67	gene	DOID:12712	nephronophthisis		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:17160906|PMID:17397051|PMID:18327255|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:22700954|PMID:23351400|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28289063|PMID:28492532|PMID:28497568|PMID:29568536|PMID:32483926|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:19574260|PMID:23559409|PMID:25741868|PMID:26092869|PMID:27491411|PMID:28492532|PMID:28719906
1586167	Tmem67	transmembrane protein 67	gene	DOID:12849	autistic disorder		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:1324	lung cancer		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:16199547|PMID:19540516|PMID:20232449|PMID:23559409|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:1573	communicating hydrocephalus		IAGP		D	RGD:14995942|PMID:30705305	20200130	RGD			
1586167	Tmem67	transmembrane protein 67	gene	DOID:1824	status epilepticus		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:1826	epilepsy		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20232449|PMID:21068128|PMID:21493627|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25741868|PMID:26035863|PMID:26191240|PMID:28492532|PMID:32000717
1586167	Tmem67	transmembrane protein 67	gene	DOID:1909	melanoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:18327255|PMID:18414213|PMID:19574260|PMID:25741868|PMID:28492532|PMID:32483926|PMID:34426522|PMID:34448047
1586167	Tmem67	transmembrane protein 67	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1606753	D	RGD:11070512|PMID:18327255	20160920	RGD		DNA:missense mutation: :p.S320C (human)	
1586167	Tmem67	transmembrane protein 67	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1606753	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:18327255
1586167	Tmem67	transmembrane protein 67	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1606753	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:16415887|PMID:20232449|PMID:23559409|PMID:25741868|PMID:27491411|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:18414213
1586167	Tmem67	transmembrane protein 67	gene	DOID:2975	cystic kidney disease		ISO	RGD:1606753	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19508969
1586167	Tmem67	transmembrane protein 67	gene	DOID:2975	cystic kidney disease		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cystic kidney disease	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:2975	cystic kidney disease		ISS	RGD:1316347	D	RGD:13592920	20230718	MouseDO			
1586167	Tmem67	transmembrane protein 67	gene	DOID:3275	thymoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586167	Tmem67	transmembrane protein 67	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1586167	Tmem67	transmembrane protein 67	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1586167	Tmem67	transmembrane protein 67	gene	DOID:4362	cervical cancer		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:17160906|PMID:18327255|PMID:25741868|PMID:28289063|PMID:28492532|PMID:32483926
1586167	Tmem67	transmembrane protein 67	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17160906|PMID:18327255|PMID:25741868|PMID:28289063|PMID:28492532|PMID:32483926
1586167	Tmem67	transmembrane protein 67	gene	DOID:480	movement disease		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:17397051|PMID:21068128|PMID:21866095|PMID:23351400|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:28497568|PMID:29568536
1586167	Tmem67	transmembrane protein 67	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:16199547|PMID:19540516|PMID:20232449|PMID:23559409|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:4989	pancreatitis		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pancreatitis	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:5041	esophageal cancer		ISO	RGD:1606753	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:16199547|PMID:19540516|PMID:20232449|PMID:23559409|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:5082	liver cirrhosis		ISO	RGD:1606753	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19508969
1586167	Tmem67	transmembrane protein 67	gene	DOID:5082	liver cirrhosis		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cirrhosis of liver | ClinVar Annotator: match by term: Hepatic fibrosis | ClinVar Annotator: match by term: cirrhosis	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:30455918|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:540	strabismus		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1586167	Tmem67	transmembrane protein 67	gene	DOID:557	kidney disease		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:17160906|PMID:18327255|PMID:18414213|PMID:25741868|PMID:28289063|PMID:28492532|PMID:29127258|PMID:32483926
1586167	Tmem67	transmembrane protein 67	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17160906|PMID:18327255|PMID:18414213|PMID:19574260|PMID:25741868|PMID:28289063|PMID:28492532|PMID:32483926|PMID:34426522|PMID:34448047
1586167	Tmem67	transmembrane protein 67	gene	DOID:576	proteinuria		IAGP		D	RGD:1300514|PMID:11095650	20201210	RGD		compared to RGD:14995941	
1586167	Tmem67	transmembrane protein 67	gene	DOID:630	genetic disease		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17377820|PMID:17397051|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29146704|PMID:30455918|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:18327255|PMID:18414213|PMID:19574260|PMID:25741868|PMID:28492532|PMID:32483926|PMID:34426522|PMID:34448047
1586167	Tmem67	transmembrane protein 67	gene	DOID:783	end stage renal disease		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:25741868|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:784	chronic kidney disease		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:8283	peritonitis		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Peritonitis	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:9000343	Vision Disorders		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:9000495	Tremor		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:9000639	COACH Syndrome 1		ISO	RGD:1606753	D	RGD:7240710	20201202	OMIM			
1586167	Tmem67	transmembrane protein 67	gene	DOID:9000639	COACH Syndrome 1		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COACH syndrome 1	PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21866095|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26191240|PMID:26467025|PMID:26729329|PMID:27894351|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29568536|PMID:29974258|PMID:30476936|PMID:32000717|PMID:36090483|PMID:36617405|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868
1586167	Tmem67	transmembrane protein 67	gene	DOID:9002720	Splenomegaly		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:19574260|PMID:25741868|PMID:26092869|PMID:28492532|PMID:30455918|PMID:31019026|PMID:31589614|PMID:31738409|PMID:32000717|PMID:34645491|PMID:34675960|PMID:34964473
1586167	Tmem67	transmembrane protein 67	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606753	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:18327255|PMID:22700954|PMID:25741868|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: hearing loss	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:9004866	Ataxia		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:19508969|PMID:25741868
1586167	Tmem67	transmembrane protein 67	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:9005786	RHYNS Syndrome		ISO	RGD:1606753	D	RGD:7240710	20221207	OMIM			
1586167	Tmem67	transmembrane protein 67	gene	DOID:9005786	RHYNS Syndrome		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, HYPOPITUITARISM, NEPHRONOPHTHISIS, AND MILD SKELETAL DYSPLASIA | ClinVar Annotator: match by term: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome	PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21866095|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26191240|PMID:26729329|PMID:27894351|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29096039|PMID:29127258|PMID:29146704|PMID:29568536|PMID:29974258|PMID:30476936|PMID:32000717|PMID:36090483|PMID:9536098
1586167	Tmem67	transmembrane protein 67	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17160906|PMID:18327255|PMID:22700954|PMID:25741868|PMID:28289063|PMID:28492532|PMID:32483926
1586167	Tmem67	transmembrane protein 67	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:19574260|PMID:20232449|PMID:23351400|PMID:25741868|PMID:26092869|PMID:28492532|PMID:30029678|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:20232449|PMID:21068128|PMID:23559409|PMID:25741868|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:19540516|PMID:20232449|PMID:23559409|PMID:28492532
1586167	Tmem67	transmembrane protein 67	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586167	Tmem67	transmembrane protein 67	gene	DOID:9351	diabetes mellitus		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1606753	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:36090483
1586167	Tmem67	transmembrane protein 67	gene	DOID:9970	obesity		ISO	RGD:1606753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:18414213|PMID:25741868|PMID:28492532|PMID:29127258
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1346323	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1346323	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:1909	melanoma		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1346323	D	RGD:597621635|PMID:21152090	20250205	RGD		DNA:SNPs::rs6526342,rs3764885	
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1346323	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:3324	mood disorder		ISO	RGD:1346323	D	RGD:597621635|PMID:21152090	20250205	RGD		DNA:SNPs::rs6526342,rs3764885	
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586174	Sat1	spermidine/spermine N1-acetyl transferase 1	gene	DOID:9970	obesity		ISO	RGD:1346323	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:0050117	disease by infectious agent	treatment	ISO	RGD:1342473	D	RGD:155260358|PMID:23118991	20221005	RGD		associated with lung non-small cell carcinoma;DNA:missense mutation:CDS:p.D1104H (human)	
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1342473	D	RGD:7246919|PMID:22824526	20130626	RGD			
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:0080763	diffuse gastric cancer	ameliorates	ISO	RGD:1342473	D	RGD:155260342|PMID:30417012	20221004	RGD		mRNA:increased expression:stomach (human)	
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:0080913	cerebrooculofacioskeletal syndrome 3		ISO	RGD:1342473	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:0080913	cerebrooculofacioskeletal syndrome 3		ISO	RGD:1342473	D	RGD:7240710	20171011	OMIM			
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:0080913	cerebrooculofacioskeletal syndrome 3		ISO	RGD:1342473	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3	
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:0110849	xeroderma pigmentosum group G		ISO	RGD:1342473	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:0110849	xeroderma pigmentosum group G		ISO	RGD:1342473	D	RGD:7240710	20130425	OMIM			
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:0110849	xeroderma pigmentosum group G		ISS	RGD:10534	D	RGD:13592920	20230718	MouseDO		OMIM:278780	
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1342473	D	RGD:155260339|PMID:27340861	20221003	RGD		DNA:SNP:intron: (rs2094258) (human)	
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1342473	D	RGD:155260338|PMID:10910954	20221003	RGD		mRNA:decreased expression:lung (human)	
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:1342473	D	RGD:12880434|PMID:21390047	20170508	RGD		DNA:polymorphism:exon:p.D1104H(human)	
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:2596	larynx cancer	susceptibility	ISO	RGD:1342473	D	RGD:155260337|PMID:19444904	20221003	RGD		DNA:missense mutation:CDS:p.D1104H (human)	
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:2962	Cockayne syndrome		ISO	RGD:10534	D	RGD:10401090|PMID:15082767	20150924	RGD			
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:3070	high grade glioma	susceptibility	ISO	RGD:1342473	D	RGD:401850601|PMID:23534771	20231025	RGD		DNA:SNP:cd: p.D1558H (rs17655) (human)	
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:3393	coronary artery disease		ISO	RGD:1342473	D	RGD:628374611|PMID:35934844	20251009	RGD		mRNA: decreased expression:blood	
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1342473	D	RGD:151347410|PMID:24782167	20220119	RGD			
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1342473	D	RGD:153323316|PMID:28924235	20221004	RGD		DNA:SNPs:multiple (human)	
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1342473	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:34182385
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1342473	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:15682379|PMID:16550608|PMID:22821389|PMID:24728327|PMID:25741868|PMID:26580448|PMID:27104957|PMID:27356891|PMID:28492532|PMID:29641532|PMID:29891518|PMID:30086788|PMID:30306255|PMID:32127467|PMID:34130653
1586176	Ercc5	ERCC excision repair 5, endonuclease	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1342473	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:34182385
1586179	Arhgef4	Rho guanine nucleotide exchange factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586179	Arhgef4	Rho guanine nucleotide exchange factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586179	Arhgef4	Rho guanine nucleotide exchange factor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1312054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586179	Arhgef4	Rho guanine nucleotide exchange factor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586179	Arhgef4	Rho guanine nucleotide exchange factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1312054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586179	Arhgef4	Rho guanine nucleotide exchange factor 4	gene	DOID:1909	melanoma		ISO	RGD:1312054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586179	Arhgef4	Rho guanine nucleotide exchange factor 4	gene	DOID:3275	thymoma		ISO	RGD:1312054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586179	Arhgef4	Rho guanine nucleotide exchange factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1312054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586179	Arhgef4	Rho guanine nucleotide exchange factor 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1312054	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586179	Arhgef4	Rho guanine nucleotide exchange factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586179	Arhgef4	Rho guanine nucleotide exchange factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586185	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586185	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:0080600	COVID-19		ISO	RGD:1348241	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
1586185	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586185	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1348241	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586185	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586185	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1586185	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:3275	thymoma		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586185	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586185	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1586185	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586185	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1586185	Eif4e3	eukaryotic translation initiation factor 4E family member 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348241	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
1586196	Gdf2	growth differentiation factor 2	gene	DOID:1270	hereditary hemorrhagic telangiectasia		ISO	RGD:1353215	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:26801773
1586196	Gdf2	growth differentiation factor 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1353215	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: marker/mechanism	PMID:26801773
1586196	Gdf2	growth differentiation factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353215	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:23936038|PMID:28284560
1586196	Gdf2	growth differentiation factor 2	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1353215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868|PMID:28492532
1586196	Gdf2	growth differentiation factor 2	gene	DOID:9001906	Hereditary Hemorrhagic Telangiectasia, Type 5		ISO	RGD:1353215	D	RGD:7240710	20140911	OMIM			
1586196	Gdf2	growth differentiation factor 2	gene	DOID:9001906	Hereditary Hemorrhagic Telangiectasia, Type 5		ISO	RGD:1353215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GDF2-related condition | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5	PMID:23335997|PMID:23972370|PMID:25741868|PMID:26801773|PMID:27081547|PMID:28492532|PMID:29843651|PMID:30476936|PMID:30578383|PMID:30578397|PMID:31661308|PMID:31727138|PMID:32573726|PMID:32618121|PMID:32992168|PMID:33007923|PMID:33066286|PMID:33834622|PMID:34199176|PMID:34611981|PMID:34904380|PMID:35346192|PMID:36891821
1586196	Gdf2	growth differentiation factor 2	gene	DOID:9002589	Bone Fractures		ISO	RGD:1353215	D	RGD:11554173	20170516	CTD		CTD Direct Evidence: therapeutic	PMID:27394662
1586210	Hoxc4	homeo box C4	gene	DOID:10485	esophageal atresia		ISO	RGD:1558279	D	RGD:10402180|PMID:17211587	20151019	RGD		mRNA:decreased expression:lung (mouse)	
1586210	Hoxc4	homeo box C4	gene	DOID:4362	cervical cancer		ISO	RGD:1351931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586210	Hoxc4	homeo box C4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586211	Hoxb8	homeo box B8	gene	DOID:0050587	trichotillomania		ISO	RGD:1345658	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11779477
1586211	Hoxb8	homeo box B8	gene	DOID:0050587	trichotillomania		ISS	RGD:1557995	D	RGD:13592920	20230718	MouseDO		OMIM:613229	
1586211	Hoxb8	homeo box B8	gene	DOID:10933	obsessive-compulsive disorder		ISO	RGD:1345658	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:11779477
1586212	Pdxp	pyridoxal phosphatase	gene	DOID:4362	cervical cancer		ISO	RGD:1351799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586233	Triap1	TP53 regulated inhibitor of apoptosis 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586239	Shox1	SHOX homeobox 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586239	Shox1	SHOX homeobox 1	gene	DOID:0060847	Leri-Weill dyschondrosteosis		ISO	RGD:1349053	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1586239	Shox1	SHOX homeobox 1	gene	DOID:0060847	Leri-Weill dyschondrosteosis		ISO	RGD:1349053	D	RGD:7240710	20190116	OMIM			
1586239	Shox1	SHOX homeobox 1	gene	DOID:0060847	Leri-Weill dyschondrosteosis		ISO	RGD:1349053	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LERI-WEILL DYSCHONDROSTEOSIS | ClinVar Annotator: match by term: Leri-Weill dyschondrosteosis | ClinVar Annotator: match by term: Léri-Weill dyschondrosteosis	PMID:11403039|PMID:11735031|PMID:11889214|PMID:12116253|PMID:15173321|PMID:15356038|PMID:15931687|PMID:23426818|PMID:23636926|PMID:25659810|PMID:25741868|PMID:26467025|PMID:26984564|PMID:27959697|PMID:28973083|PMID:30192042|PMID:34627339|PMID:36307859
1586239	Shox1	SHOX homeobox 1	gene	DOID:0112120	SHOX-related short stature		ISO	RGD:1349053	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1586239	Shox1	SHOX homeobox 1	gene	DOID:0112120	SHOX-related short stature		ISO	RGD:1349053	D	RGD:7240710	20190116	OMIM			
1586239	Shox1	SHOX homeobox 1	gene	DOID:0112120	SHOX-related short stature		ISO	RGD:1349053	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SHOX-related short stature | ClinVar Annotator: match by term: Short stature, idiopathic, X-linked	PMID:21262861|PMID:21912078|PMID:23636926|PMID:24051572|PMID:24421874|PMID:25741868|PMID:26467025|PMID:34426522
1586239	Shox1	SHOX homeobox 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:12362035|PMID:22020182|PMID:25741868|PMID:26467025
1586239	Shox1	SHOX homeobox 1	gene	DOID:12849	autistic disorder		ISO	RGD:1349053	D	RGD:8554872	20190212	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 17	PMID:21681106|PMID:30208311
1586239	Shox1	SHOX homeobox 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:21681106
1586239	Shox1	SHOX homeobox 1	gene	DOID:2355	anemia		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:21681106
1586239	Shox1	SHOX homeobox 1	gene	DOID:5419	schizophrenia		ISO	RGD:1349053	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
1586239	Shox1	SHOX homeobox 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:12362035|PMID:22020182|PMID:25741868|PMID:26467025
1586239	Shox1	SHOX homeobox 1	gene	DOID:65	connective tissue disease		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25659810|PMID:25741868|PMID:26467025
1586239	Shox1	SHOX homeobox 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:21681106
1586239	Shox1	SHOX homeobox 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:21681106
1586239	Shox1	SHOX homeobox 1	gene	DOID:9005842	Langer Mesomelic Dysplasia		ISO	RGD:1349053	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1586239	Shox1	SHOX homeobox 1	gene	DOID:9005842	Langer Mesomelic Dysplasia		ISO	RGD:1349053	D	RGD:7240710	20190116	OMIM			
1586239	Shox1	SHOX homeobox 1	gene	DOID:9005842	Langer Mesomelic Dysplasia		ISO	RGD:1349053	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LANGER MESOMELIC DYSPLASIA | ClinVar Annotator: match by term: Langer mesomelic dysplasia | ClinVar Annotator: match by term: Langer mesomelic dysplasia syndrome	PMID:11735031|PMID:11889214|PMID:15356038|PMID:23636926|PMID:25741868|PMID:26467025
1586239	Shox1	SHOX homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586239	Shox1	SHOX homeobox 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short Stature | ClinVar Annotator: match by term: Short stature	PMID:11889216|PMID:12362035|PMID:12424438|PMID:21681106|PMID:25741868
1586239	Shox1	SHOX homeobox 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21681106
1586239	Shox1	SHOX homeobox 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586239	Shox1	SHOX homeobox 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586239	Shox1	SHOX homeobox 1	gene	DOID:9840	esotropia		ISO	RGD:1349053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:21681106
1586242	Zfp78	zinc finger protein 78	gene	DOID:6039	uveal melanoma		ISO	RGD:1350704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1586242	Zfp78	zinc finger protein 78	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1586242	Zfp78	zinc finger protein 78	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586242	Zfp78	zinc finger protein 78	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586262	Rnf207	ring finger protein 207	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586262	Rnf207	ring finger protein 207	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586262	Rnf207	ring finger protein 207	gene	DOID:10534	stomach cancer		ISO	RGD:1603826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586262	Rnf207	ring finger protein 207	gene	DOID:1324	lung cancer		ISO	RGD:1603826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586262	Rnf207	ring finger protein 207	gene	DOID:1909	melanoma		ISO	RGD:1603826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586262	Rnf207	ring finger protein 207	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586262	Rnf207	ring finger protein 207	gene	DOID:2394	ovarian cancer		ISO	RGD:1603826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1586262	Rnf207	ring finger protein 207	gene	DOID:2843	long QT syndrome		ISO	RGD:1603826	D	RGD:8554872	20200211	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868
1586262	Rnf207	ring finger protein 207	gene	DOID:3275	thymoma		ISO	RGD:1603826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586262	Rnf207	ring finger protein 207	gene	DOID:4362	cervical cancer		ISO	RGD:1603826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586262	Rnf207	ring finger protein 207	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1586262	Rnf207	ring finger protein 207	gene	DOID:5041	esophageal cancer		ISO	RGD:1603826	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586262	Rnf207	ring finger protein 207	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586262	Rnf207	ring finger protein 207	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1586262	Rnf207	ring finger protein 207	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
1586262	Rnf207	ring finger protein 207	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1603826	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
1586262	Rnf207	ring finger protein 207	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:0070443	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction		ISO	RGD:1321352	D	RGD:7240710	20210818	OMIM			
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:0070443	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction		ISO	RGD:1321352	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: GEMIN5-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	PMID:23892092|PMID:25741868|PMID:28492532|PMID:33963192|PMID:35393353|PMID:36980979|PMID:38274568
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:1909	melanoma		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:3275	thymoma		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:4990	essential tremor		ISO	RGD:1321352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: essential tremor	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1321352	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:6039	uveal melanoma		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:630	genetic disease		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:33963192|PMID:35295849|PMID:36980979|PMID:38274568
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586275	Gemin5	gem (nuclear organelle) associated protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586282	Cimap3	ciliary microtubule associated protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586282	Cimap3	ciliary microtubule associated protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1604536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586282	Cimap3	ciliary microtubule associated protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1586282	Cimap3	ciliary microtubule associated protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604536	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586282	Cimap3	ciliary microtubule associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586282	Cimap3	ciliary microtubule associated protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586284	Faxdc2	fatty acid hydroxylase domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586284	Faxdc2	fatty acid hydroxylase domain containing 2	gene	DOID:12849	autistic disorder		ISO	RGD:1319694	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
1586284	Faxdc2	fatty acid hydroxylase domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586284	Faxdc2	fatty acid hydroxylase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586284	Faxdc2	fatty acid hydroxylase domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1586284	Faxdc2	fatty acid hydroxylase domain containing 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1319694	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
1586284	Faxdc2	fatty acid hydroxylase domain containing 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319694	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
1586284	Faxdc2	fatty acid hydroxylase domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:0060058	lymphoma		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:10534	stomach cancer		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:1115	sarcoma		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:1909	melanoma		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:4362	cervical cancer		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586304	Fam91a1	family with sequence similarity 91, member A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586305	Tomm20l	translocase of outer mitochondrial membrane 20 like	gene	DOID:1909	melanoma		ISO	RGD:1602627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586305	Tomm20l	translocase of outer mitochondrial membrane 20 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586315	C14h1orf146	similar to human chromosome 1 open reading frame 146	gene	DOID:10534	stomach cancer		ISO	RGD:1603476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586315	C14h1orf146	similar to human chromosome 1 open reading frame 146	gene	DOID:12336	male infertility		ISO	RGD:1603476	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868
1586315	C14h1orf146	similar to human chromosome 1 open reading frame 146	gene	DOID:3275	thymoma		ISO	RGD:1603476	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586315	C14h1orf146	similar to human chromosome 1 open reading frame 146	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1586315	C14h1orf146	similar to human chromosome 1 open reading frame 146	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586317	Gpr137	G protein-coupled receptor 137	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586317	Gpr137	G protein-coupled receptor 137	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586317	Gpr137	G protein-coupled receptor 137	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586317	Gpr137	G protein-coupled receptor 137	gene	DOID:1909	melanoma		ISO	RGD:1604608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586317	Gpr137	G protein-coupled receptor 137	gene	DOID:3070	high grade glioma		ISO	RGD:1604608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
1586317	Gpr137	G protein-coupled receptor 137	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1586317	Gpr137	G protein-coupled receptor 137	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586322	Nrsn2	neurensin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313267	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586322	Nrsn2	neurensin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586337	Tmem52b	transmembrane protein 52B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586337	Tmem52b	transmembrane protein 52B	gene	DOID:4362	cervical cancer		ISO	RGD:1606983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586337	Tmem52b	transmembrane protein 52B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586341	C8h11orf52	similar to human chromosome 11 open reading frame 52	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1604761	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: PARAGANGLIOMA AND GASTROINTESTINAL STROMAL TUMOR	PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532
1586346	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586346	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:0050696	fetal alcohol spectrum disorder		IEP		D	RGD:11344152|PMID:26509893	20240130	RGD		mRNA:decreased expression:pituitary gland (rat)	
1586346	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586346	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:13619	extrahepatic cholestasis	treatment	IMP		D	RGD:9491846|PMID:24097032	20140916	RGD			
1586346	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:1561	cognitive disorder		ISO	RGD:1606498	D	RGD:11554173	20220809	CTD		CTD Direct Evidence: therapeutic	PMID:35187972
1586346	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1606498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586346	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:2394	ovarian cancer		ISO	RGD:1606498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
1586346	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1586346	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586346	Setd7	SET domain containing 7, histone lysine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586351	Zfp185	zinc finger protein 185	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586351	Zfp185	zinc finger protein 185	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586351	Zfp185	zinc finger protein 185	gene	DOID:1115	sarcoma		ISO	RGD:1352809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586351	Zfp185	zinc finger protein 185	gene	DOID:12849	autistic disorder		ISO	RGD:1352809	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism	
1586351	Zfp185	zinc finger protein 185	gene	DOID:4362	cervical cancer		ISO	RGD:1352809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586351	Zfp185	zinc finger protein 185	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1586351	Zfp185	zinc finger protein 185	gene	DOID:5041	esophageal cancer		ISO	RGD:1352809	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586351	Zfp185	zinc finger protein 185	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586351	Zfp185	zinc finger protein 185	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586351	Zfp185	zinc finger protein 185	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586362	Ndufc1	NADH:ubiquinone oxidoreductase subunit C1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586362	Ndufc1	NADH:ubiquinone oxidoreductase subunit C1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586362	Ndufc1	NADH:ubiquinone oxidoreductase subunit C1	gene	DOID:10534	stomach cancer		ISO	RGD:1353150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586362	Ndufc1	NADH:ubiquinone oxidoreductase subunit C1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586362	Ndufc1	NADH:ubiquinone oxidoreductase subunit C1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1586362	Ndufc1	NADH:ubiquinone oxidoreductase subunit C1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1586367	Syce3	synaptonemal complex central element protein 3	gene	DOID:1115	sarcoma		ISO	RGD:2303881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586367	Syce3	synaptonemal complex central element protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:2303881	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586367	Syce3	synaptonemal complex central element protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2303881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586368	Il23r	interleukin 23 receptor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1586368	Il23r	interleukin 23 receptor	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1351657	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983784|PMID:23291587|PMID:26192919
1586368	Il23r	interleukin 23 receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586368	Il23r	interleukin 23 receptor	gene	DOID:0081120	Graves ophthalmopathy	no_association	ISO	RGD:1351657	D	RGD:7421521|PMID:22663548	20140328	RGD		DNA:SNPs: :rs10889677,rs2201841(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:0081120	Graves ophthalmopathy	susceptibility	ISO	RGD:1351657	D	RGD:8549554|PMID:18073300	20140328	RGD		DNA:SNPs: :rs2201841,rs10889677(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:0110883	inflammatory bowel disease 17		ISO	RGD:1351657	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1586368	Il23r	interleukin 23 receptor	gene	DOID:0110883	inflammatory bowel disease 17		ISO	RGD:1351657	D	RGD:7240710	20130425	OMIM			
1586368	Il23r	interleukin 23 receptor	gene	DOID:0111279	psoriasis 7		ISO	RGD:1351657	D	RGD:7240710	20230505	OMIM			
1586368	Il23r	interleukin 23 receptor	gene	DOID:0111279	psoriasis 7		ISO	RGD:1351657	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: IL23R-related condition	PMID:25741868|PMID:28492532
1586368	Il23r	interleukin 23 receptor	gene	DOID:1024	leprosy		ISO	RGD:1351657	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22019778
1586368	Il23r	interleukin 23 receptor	gene	DOID:1059	intellectual disability		ISO	RGD:1351657	D	RGD:8554872	20190906	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868
1586368	Il23r	interleukin 23 receptor	gene	DOID:10608	celiac disease		ISO	RGD:1351657	D	RGD:8549604|PMID:19175939	20140401	RGD			
1586368	Il23r	interleukin 23 receptor	gene	DOID:10608	celiac disease	susceptibility	ISO	RGD:1351657	D	RGD:8549631|PMID:18368064	20140401	RGD		DNA:SNP:cds:p.R381Q(rs11209026)(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:11335	sarcoidosis	susceptibility	ISO	RGD:1351657	D	RGD:8549545|PMID:21846945	20140328	RGD		DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:12361	Graves' disease	no_association	ISO	RGD:1351657	D	RGD:8549564|PMID:19021011	20140331	RGD		DNA:SNPs: :rs2201841,rs10889677,rs7530511(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:1351657	D	RGD:8549554|PMID:18073300	20140328	RGD		DNA:SNP: :rs7530511(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1351657	D	RGD:8549566|PMID:22262980	20140331	RGD		protein:increased expression:minor salivary gland:	
1586368	Il23r	interleukin 23 receptor	gene	DOID:13141	uveitis	susceptibility	ISO	RGD:1351657	D	RGD:8549545|PMID:21846945	20140328	RGD		associated with Sarcoidosis;DNA:SNPs:intron,exon:rs11465804,rs11209026(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:1324	lung cancer		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
1586368	Il23r	interleukin 23 receptor	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:1351657	D	RGD:8549550|PMID:22483685	20140328	RGD		DNA:SNP: :rs1884444(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:1351657	D	RGD:8549565|PMID:20375120	20140331	RGD		DNA:SNPs,haplotype::rs17375018, rs11209032(human);	
1586368	Il23r	interleukin 23 receptor	gene	DOID:1826	epilepsy		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
1586368	Il23r	interleukin 23 receptor	gene	DOID:2030	anxiety disorder		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1586368	Il23r	interleukin 23 receptor	gene	DOID:2377	multiple sclerosis		ISO	RGD:1351657	D	RGD:8549631|PMID:18368064	20140401	RGD		DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:2377	multiple sclerosis	no_association	ISO	RGD:1351657	D	RGD:8549632|PMID:24547735	20140401	RGD		DNA:SNPs: :rs2201841,rs10889677,s7517847(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:2841	asthma		ISO	RGD:1622129	D	RGD:5037240|PMID:19935773	20110303	RGD			
1586368	Il23r	interleukin 23 receptor	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1351657	D	RGD:632518378|PMID:36483566	20260210	RGD		DNA:SNPs, haplotype: :rs11805303, rs7518660	
1586368	Il23r	interleukin 23 receptor	gene	DOID:3275	thymoma		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586368	Il23r	interleukin 23 receptor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
1586368	Il23r	interleukin 23 receptor	gene	DOID:418	systemic scleroderma		ISO	RGD:1351657	D	RGD:5096624|PMID:19918037	20110304	RGD		DNA:SNPs: :rs11209026, rs11465804 (human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:418	systemic scleroderma	no_association	ISO	RGD:1351657	D	RGD:8549603|PMID:18713787	20140401	RGD		DNA:SNPs: :rs11209032,rs1495965(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:1351657	D	RGD:8549605|PMID:23696856	20140401	RGD		DNA:SNP,haplotype: :rs7517847(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1351657	D	RGD:5096624|PMID:19918037	20110304	RGD		associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1351657	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17952073|PMID:20062062
1586368	Il23r	interleukin 23 receptor	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1351657	D	RGD:8549549|PMID:19522770	20140328	RGD		DNA:SNPs,haplotype:multiple:	
1586368	Il23r	interleukin 23 receptor	gene	DOID:7147	ankylosing spondylitis	no_association	ISO	RGD:1351657	D	RGD:8549630|PMID:19877036	20140401	RGD		DNA:SNP: :rs11209026(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:7148	rheumatoid arthritis	susceptibility	ISO	RGD:1351657	D	RGD:8549596|PMID:18647855	20140401	RGD		DNA:SNP::rs1343151(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:848	arthritis	susceptibility	ISO	RGD:1351657	D	RGD:8549572|PMID:19035472	20140331	RGD		associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:8577	ulcerative colitis		ISO	RGD:1351657	D	RGD:11554173	20250506	CTD		CTD Direct Evidence: marker/mechanism	PMID:17068223|PMID:18438406|PMID:19122664|PMID:20228799
1586368	Il23r	interleukin 23 receptor	gene	DOID:8577	ulcerative colitis		ISO	RGD:1351657	D	RGD:8549574|PMID:23093364	20140331	RGD		DNA:SNP,Haplotype: :rs1884444(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:8778	Crohn's disease		ISO	RGD:1351657	D	RGD:11554173	20250506	CTD		CTD Direct Evidence: marker/mechanism	PMID:17068223|PMID:17435756|PMID:18438406
1586368	Il23r	interleukin 23 receptor	gene	DOID:8778	Crohn's disease	susceptibility	ISO	RGD:1351657	D	RGD:8549568|PMID:17068223	20140331	RGD		DNA:SNPs:multiple:	
1586368	Il23r	interleukin 23 receptor	gene	DOID:8893	psoriasis		ISO	RGD:1351657	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19169254|PMID:20953190|PMID:24212883
1586368	Il23r	interleukin 23 receptor	gene	DOID:8893	psoriasis		ISO	RGD:1351657	D	RGD:8549574|PMID:23093364	20140331	RGD		DNA:SNPs: :rs1884444,rs10889677(human);	
1586368	Il23r	interleukin 23 receptor	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1351657	D	RGD:8549569|PMID:17587057	20140331	RGD		DNA:SNP:cds:p.R381Q(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1351657	D	RGD:8549602|PMID:20978829	20140401	RGD		DNA:SNP: :rs11805303(human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:9003049	Femur Head Necrosis	susceptibility	ISO	RGD:1351657	D	RGD:401901196|PMID:28422712	20231205	RGD		associated with Alcohol-Related Disorders;DNA:SNP:rs6693831 (human)	
1586368	Il23r	interleukin 23 receptor	gene	DOID:9008023	Memory Disorders		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
1586368	Il23r	interleukin 23 receptor	gene	DOID:9008286	Experimental Autoimmune Myasthenia Gravis		IEP		D	RGD:5108250|PMID:21193288	20110304	RGD		mRNA:increased expression:lymph node	
1586368	Il23r	interleukin 23 receptor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1351657	D	RGD:8549601|PMID:21110900	20140401	RGD		protein:increased expression:T cell:	
1586368	Il23r	interleukin 23 receptor	gene	DOID:9834	hyperopia		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
1586369	Mgarp	mitochondria-localized glutamic acid-rich protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586369	Mgarp	mitochondria-localized glutamic acid-rich protein	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1603194	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:12336	male infertility		ISO	RGD:1602491	D	RGD:8554872	20200310	ClinVar		ClinVar Annotator: match by term: Male infertility	
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:1324	lung cancer		ISO	RGD:1602491	D	RGD:151660338|PMID:25435374	20220303	RGD		DNA:hypermethylation:lung:	
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:1324	lung cancer	exacerbates	ISO	RGD:1602491	D	RGD:151660338|PMID:25435374	20220303	RGD			
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:1909	melanoma		ISO	RGD:1602491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:1602491	D	RGD:11535423|PMID:26330328	20220303	RGD			
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1602491	D	RGD:151660331|PMID:32443323	20220303	RGD			
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1602491	D	RGD:11535423|PMID:26330328	20220303	RGD			
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1602491	D	RGD:151660341|PMID:30312695	20220303	RGD			
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1602491	D	RGD:151660341|PMID:30312695	20220303	RGD			
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1602491	D	RGD:151660333|PMID:29739711	20220303	RGD		associated with lung non-small cell carcinoma;mRNA, protein:decreased expression: :	
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1602491	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: therapeutic	PMID:25435374
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:9006618	Liver Metastasis	ameliorates	ISO	RGD:1313914	D	RGD:151660333|PMID:29739711	20220303	RGD			
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586382	Sox30	SRY-box transcription factor 30	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:1313914	D	RGD:151660333|PMID:29739711	20220303	RGD			
1586386	Trabd2b	TraB domain containing 2B	gene	DOID:4362	cervical cancer		ISO	RGD:6770286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586386	Trabd2b	TraB domain containing 2B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:6770286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1586386	Trabd2b	TraB domain containing 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:6770286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586386	Trabd2b	TraB domain containing 2B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:6770286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1586391	Ccdc62	coiled-coil domain containing 62	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586391	Ccdc62	coiled-coil domain containing 62	gene	DOID:0070566	spermatogenic failure 67		ISO	RGD:1603292	D	RGD:7240710	20220406	OMIM			
1586391	Ccdc62	coiled-coil domain containing 62	gene	DOID:0070566	spermatogenic failure 67		ISO	RGD:1603292	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 67	PMID:25741868
1586391	Ccdc62	coiled-coil domain containing 62	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586391	Ccdc62	coiled-coil domain containing 62	gene	DOID:1909	melanoma		ISO	RGD:1603292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586391	Ccdc62	coiled-coil domain containing 62	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586391	Ccdc62	coiled-coil domain containing 62	gene	DOID:3275	thymoma		ISO	RGD:1603292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586391	Ccdc62	coiled-coil domain containing 62	gene	DOID:5041	esophageal cancer		ISO	RGD:1603292	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586391	Ccdc62	coiled-coil domain containing 62	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1586391	Ccdc62	coiled-coil domain containing 62	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1586391	Ccdc62	coiled-coil domain containing 62	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586391	Ccdc62	coiled-coil domain containing 62	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586401	Prdm12	PR/SET domain 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586401	Prdm12	PR/SET domain 12	gene	DOID:0070153	hereditary sensory and autonomic neuropathy type 8		ISO	RGD:1351660	D	RGD:7240710	20160914	OMIM			
1586401	Prdm12	PR/SET domain 12	gene	DOID:0070153	hereditary sensory and autonomic neuropathy type 8		ISO	RGD:1351660	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VIII | ClinVar Annotator: match by term: PRDM12-related condition	PMID:25741868|PMID:26005867|PMID:28492532|PMID:32409124|PMID:32828702
1586401	Prdm12	PR/SET domain 12	gene	DOID:10907	microcephaly		ISO	RGD:1351660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:36111846
1586401	Prdm12	PR/SET domain 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1351660	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586401	Prdm12	PR/SET domain 12	gene	DOID:630	genetic disease		ISO	RGD:1351660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
1586401	Prdm12	PR/SET domain 12	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:36111846
1586401	Prdm12	PR/SET domain 12	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1351660	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:26005867
1586401	Prdm12	PR/SET domain 12	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1351660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:25741868|PMID:36111846
1586401	Prdm12	PR/SET domain 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586415	Pheta2	PH domain containing endocytic trafficking adaptor 2	gene	DOID:0080600	COVID-19		ISO	RGD:1604738	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
1586419	Tgfbr3l	transforming growth factor beta receptor 3 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:6770737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586419	Tgfbr3l	transforming growth factor beta receptor 3 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:6770737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586419	Tgfbr3l	transforming growth factor beta receptor 3 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:6770737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0050453	lissencephaly		ISO	RGD:1313480	D	RGD:11065022|PMID:17559086	20160902	RGD		DNA:missense mutation:exonp.G726R (c.2176G>A) (human)	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1313480	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1313480	D	RGD:11532761|PMID:15894594	20160907	RGD		DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human)	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1313480	D	RGD:11554173	20170822	CTD		CTD Direct Evidence: marker/mechanism	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1313480	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pagon syndrome	PMID:25741868|PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313480	D	RGD:11554173	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1313480	D	RGD:11532762|PMID:17923109	20160907	RGD		DNA:missense mutation:exon:p.T184M, (c.551C>T) (human)	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1313480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:15894594|PMID:16199547|PMID:17559086|PMID:18414213|PMID:18752264|PMID:24183756|PMID:25741868|PMID:26495167|PMID:27457812|PMID:28492532|PMID:33200426
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N		ISO	RGD:1313480	D	RGD:7240710	20130221	OMIM			
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N		ISO	RGD:1313480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2N | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	PMID:15894594|PMID:16199547|PMID:16701995|PMID:17559086|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19138766|PMID:19299310|PMID:22323514|PMID:22700954|PMID:22958903|PMID:24002165|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26495167|PMID:27457812|PMID:27854218|PMID:27894351|PMID:28492532|PMID:28980384|PMID:29175898|PMID:29759639|PMID:30060766|PMID:30827497|PMID:32140910|PMID:32528171|PMID:33200426|PMID:34413876|PMID:35628876|PMID:37273706|PMID:37526466|PMID:9536098
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0110873	holoprosencephaly 9		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar cyst	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1		ISO	RGD:1313480	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	PMID:17559086|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	PMID:25741868|PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2		ISO	RGD:1313480	D	RGD:7240710	20170802	OMIM			
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2		ISO	RGD:1313480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED	PMID:15894594|PMID:16199547|PMID:16701995|PMID:17559086|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19138766|PMID:19299310|PMID:22323514|PMID:22700954|PMID:24002165|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26495167|PMID:27457812|PMID:27854218|PMID:28492532|PMID:29175898|PMID:29759639|PMID:30827497|PMID:33200426|PMID:34413876|PMID:9536098
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0112380	muscular dystrophy-dystroglycanopathy type B2		ISO	RGD:1313480	D	RGD:7240710	20130221	OMIM			
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:0112380	muscular dystrophy-dystroglycanopathy type B2		ISO	RGD:1313480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED	PMID:15894594|PMID:16199547|PMID:17559086|PMID:17576681|PMID:17878207|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19299310|PMID:22323514|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26495167|PMID:27457812|PMID:28492532|PMID:29175898|PMID:33200426|PMID:9536098
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aqueductal stenosis	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:11830	myopia		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:14784	olivopontocerebellar atrophy		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:1596	depressive disorder		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:2841	asthma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:3459	breast carcinoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:15894594|PMID:25741868|PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15894594|PMID:25741868|PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9007736	Vertigo		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9884	muscular dystrophy		ISO	RGD:1313480	D	RGD:11532760|PMID:17634419	20160907	RGD		DNA:missense mutations, nonsense mutation:exon: p.W647X (c.1941G>A), p.W748R (c.2242T>C), p.Y666C (c.1997A>G) (human)	
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9884	muscular dystrophy		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:15894594|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:27854218|PMID:28492532
1586427	Pomt2	protein-O-mannosyltransferase 2	gene	DOID:9970	obesity		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
1586458	Wbp2nl	WBP2 N-terminal like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586458	Wbp2nl	WBP2 N-terminal like	gene	DOID:10534	stomach cancer		ISO	RGD:1604730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586458	Wbp2nl	WBP2 N-terminal like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586458	Wbp2nl	WBP2 N-terminal like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586463	Wdr36	WD repeat domain 36	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1313630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:25741868
1586463	Wdr36	WD repeat domain 36	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:0060058	lymphoma		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:10534	stomach cancer		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:1067	open-angle glaucoma		ISO	RGD:1313630	D	RGD:11554173	20180313	CTD		CTD Direct Evidence: marker/mechanism	PMID:21059646
1586463	Wdr36	WD repeat domain 36	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1313630	D	RGD:8548463|PMID:16723468	20140305	RGD			
1586463	Wdr36	WD repeat domain 36	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1313630	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary open angle glaucoma	PMID:25741868|PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:1070	primary open angle glaucoma	no_association	ISO	RGD:1313630	D	RGD:8548466|PMID:16876519	20140305	RGD		DNA:polymorphism:cds:p.D658G	
1586463	Wdr36	WD repeat domain 36	gene	DOID:1070	primary open angle glaucoma	susceptibility	ISO	RGD:1313630	D	RGD:8548465|PMID:15677485	20140305	RGD		DNA:polymorphisms:cds:p.D658G, N355S, A449T and R529Q (human)	
1586463	Wdr36	WD repeat domain 36	gene	DOID:1115	sarcoma		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586463	Wdr36	WD repeat domain 36	gene	DOID:1324	lung cancer		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586463	Wdr36	WD repeat domain 36	gene	DOID:1459	hypothyroidism		ISO	RGD:1313630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
1586463	Wdr36	WD repeat domain 36	gene	DOID:1686	glaucoma	susceptibility	ISO	RGD:1313630	D	RGD:8548460|PMID:22025897	20140305	RGD		DNA:polymorphism:exon:rs10038177(human)	
1586463	Wdr36	WD repeat domain 36	gene	DOID:1686	glaucoma	susceptibility	ISO	RGD:1313630	D	RGD:8548461|PMID:19347049	20140305	RGD		DNA:haplotype::rs13153937, rs10038177, rs11241095 (human)	
1586463	Wdr36	WD repeat domain 36	gene	DOID:1686	glaucoma	susceptibility	ISO	RGD:1313630	D	RGD:8548462|PMID:17960130	20140305	RGD		DNA:polymorphisms:cds:p.I264V,c.1965-30A>G(human)	
1586463	Wdr36	WD repeat domain 36	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586463	Wdr36	WD repeat domain 36	gene	DOID:2394	ovarian cancer		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:2841	asthma		ISO	RGD:1313630	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19198610
1586463	Wdr36	WD repeat domain 36	gene	DOID:3275	thymoma		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:4362	cervical cancer		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:4481	allergic rhinitis	susceptibility	ISO	RGD:1313630	D	RGD:640476621|PMID:32082391	20260313	RGD		DNA:SNP:promoter:rs1438673	
1586463	Wdr36	WD repeat domain 36	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:50	thyroid gland disease		ISO	RGD:1313630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormal circulating thyroid hormone concentration	PMID:25741868
1586463	Wdr36	WD repeat domain 36	gene	DOID:5041	esophageal cancer		ISO	RGD:1313630	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:6039	uveal melanoma		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:8433	thyroid malformation		ISO	RGD:1313630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thyroid dysgenesis	PMID:25741868
1586463	Wdr36	WD repeat domain 36	gene	DOID:8466	retinal degeneration		ISO	RGD:1550247	D	RGD:8548464|PMID:20631153	20140305	RGD		DNA:deletion:cds:	
1586463	Wdr36	WD repeat domain 36	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586463	Wdr36	WD repeat domain 36	gene	DOID:9008133	Glaucoma 1, Open Angle, G		ISO	RGD:1313630	D	RGD:11554173	20230718	CTD		CTD Direct Evidence: marker/mechanism	
1586463	Wdr36	WD repeat domain 36	gene	DOID:9008133	Glaucoma 1, Open Angle, G		ISO	RGD:1313630	D	RGD:7240710	20130221	OMIM			
1586463	Wdr36	WD repeat domain 36	gene	DOID:9008133	Glaucoma 1, Open Angle, G		ISO	RGD:1313630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLAUCOMA 1, OPEN ANGLE, G | ClinVar Annotator: match by term: Glaucoma 1, open angle, G | ClinVar Annotator: match by term: WDR36-related condition	PMID:15677485|PMID:16723468|PMID:17563723|PMID:19150991|PMID:22995991|PMID:25333069|PMID:25741868|PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
1586463	Wdr36	WD repeat domain 36	gene	DOID:9415	allergic asthma	susceptibility	ISO	RGD:1313630	D	RGD:5144243|PMID:19198610	20260313	RGD		DNA:SNP: :rs2416257	
1586478	Il31ra	interleukin 31 receptor A	gene	DOID:0050639	primary cutaneous amyloidosis		ISO	RGD:1344882	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	
1586478	Il31ra	interleukin 31 receptor A	gene	DOID:0080931	primary localized cutaneous amyloidosis 2		ISO	RGD:1344882	D	RGD:7240710	20140903	OMIM			
1586478	Il31ra	interleukin 31 receptor A	gene	DOID:0080931	primary localized cutaneous amyloidosis 2		ISO	RGD:1344882	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 2 | ClinVar Annotator: match by term: IL31RA-related condition	PMID:25741868|PMID:28492532
1586478	Il31ra	interleukin 31 receptor A	gene	DOID:1324	lung cancer		ISO	RGD:1344882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586478	Il31ra	interleukin 31 receptor A	gene	DOID:1909	melanoma		ISO	RGD:1344882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586478	Il31ra	interleukin 31 receptor A	gene	DOID:3275	thymoma		ISO	RGD:1344882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586478	Il31ra	interleukin 31 receptor A	gene	DOID:5041	esophageal cancer		ISO	RGD:1344882	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586478	Il31ra	interleukin 31 receptor A	gene	DOID:9000998	Brain Injuries		ISO	RGD:1344882	D	RGD:11554173	20250812	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
1586478	Il31ra	interleukin 31 receptor A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1604556	D	RGD:713963044|PMID:24081992	20260514	RGD		protein:increased expression:alveolar epithelial cell, fibroblast	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:0050211	swine influenza	treatment	ISO	RGD:1621562	D	RGD:38549590|PMID:32060507	20200902	RGD			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:0051062	ischemic stroke		IEP		D	RGD:151347693|PMID:30676545	20260609	RGD		protein:increased expression:cerebral cortex:	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:0060496	respiratory allergy		ISO	RGD:1604556	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: therapeutic	PMID:28329851
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:10112	sleeping sickness	susceptibility	ISO	RGD:1621562	D	RGD:38549587|PMID:28769924	20200902	RGD		protein:increased expression:serum (mouse)	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:10459	common cold		ISO	RGD:1604556	D	RGD:38596342|PMID:28471975	20200904	RGD		protein:increased expression:nasal mucus (human)	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:10976	membranous glomerulonephritis	treatment	ISO	RGD:1621562	D	RGD:38549592|PMID:11920357	20200902	RGD			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:11446	sciatic neuropathy		IEP		D	RGD:730468924|PMID:34281158	20260610	RGD		protein:increased expression: sciatic nerve and dorsal root ganglion	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:1205	allergic disease		ISO	RGD:1604556	D	RGD:11554173	20250304	CTD		CTD Direct Evidence: marker/mechanism	PMID:33836808
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:12365	malaria		ISO	RGD:1621562	D	RGD:38596344|PMID:28955823	20200904	RGD		mRNA:altered expression:multiple (mouse)	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:1252	trichuriasis	susceptibility	ISO	RGD:1621562	D	RGD:38549593|PMID:19273626	20200903	RGD			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1604556	D	RGD:38596342|PMID:28471975	20200904	RGD		protein:increased expression:nasal mucus (human)	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1621562	D	RGD:38549376|PMID:27156176	20200901	RGD			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:1273	respiratory syncytial virus infectious disease	sexual_dimorphism	ISO	RGD:1621562	D	RGD:38596346|PMID:31076663	20200905	RGD		mRNA:increased expression:lung (mouse)	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:13922	eosinophilic esophagitis		ISO	RGD:1604556	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:20208534
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:2841	asthma		IEP		D	RGD:730468916|PMID:28972901	20260609	RGD		protein:lung:increased expression:	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:2841	asthma		ISO	RGD:1604556	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:21804549
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:2841	asthma		ISO	RGD:1604556	D	RGD:713699936|PMID:26999524	20260513	RGD		protein:increased expression:plasma	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:2841	asthma		ISO	RGD:1621562	D	RGD:730466410|PMID:18757241	20260603	RGD		protein:increased expression:respiratory system fluid/secretion	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1604556	D	RGD:640476622|PMID:21804548	20260313	RGD		DNA:SNP"promoter:rs1837253	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:2917	cryoglobulinemia		ISS	RGD:1621562	D	RGD:13592920	20240425	MouseDO			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:1604556	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17686814
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:2920	membranoproliferative glomerulonephritis		ISS	RGD:1621562	D	RGD:13592920	20240425	MouseDO		OMIM:305800	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:3042	allergic contact dermatitis	treatment	ISO	RGD:1621562	D	RGD:38596345|PMID:30187507	20200904	RGD			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:3107	toxascariasis		ISO	RGD:1621562	D	RGD:38596353|PMID:24327787	20200906	RGD		mRNA:increased expression:multiple (mouse)	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:3213	demyelinating disease		IEP		D	RGD:730468913|PMID:24668732	20260609	RGD		protein:increased expression:gray matter, astrocyte	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:3310	atopic dermatitis		ISO	RGD:1604556	D	RGD:11554173	20200512	CTD		CTD Direct Evidence: marker/mechanism	PMID:16880407|PMID:22355542|PMID:23688403|PMID:27869817
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:3310	atopic dermatitis		ISO	RGD:1604556	D	RGD:713958595|PMID:20624642	20260514	RGD		protein:increased expression:skin	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:3310	atopic dermatitis		ISO	RGD:1604556	D	RGD:730466408|PMID:24341479	20260603	RGD		DNA:hypomethylation:promoter,skin	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:3310	atopic dermatitis		ISS	RGD:1621562	D	RGD:13592920	20240425	MouseDO		OMIM:603165	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:3310	atopic dermatitis	treatment	ISO	RGD:1621562	D	RGD:38549374|PMID:29310423	20201222	RGD			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:418	systemic scleroderma		ISO	RGD:1604556	D	RGD:730466412|PMID:23413283	20260603	RGD		ssc mRNA, protein:increased expression:skin, keratinocyte, epidermis	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:4481	allergic rhinitis		ISO	RGD:1604556	D	RGD:632518407|PMID:19968632	20260213	RGD		protein:increased expression:respiratory system fluid/secretion	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:4481	allergic rhinitis	treatment	ISO	RGD:1604556	D	RGD:730466409|PMID:27012942	20260603	RGD			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604556	D	RGD:11554173	20190212	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:718	autoimmune hemolytic anemia		ISS	RGD:1621562	D	RGD:13592920	20240425	MouseDO		OMIM:205700	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9000575	Respiratory Signs and Symptoms		ISO	RGD:1604556	D	RGD:11554173	20250304	CTD		CTD Direct Evidence: marker/mechanism	PMID:33836808
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1604556	D	RGD:713956260|PMID:20924287	20260514	RGD		mRNA,protein:increased expression:nasal cavity mucosa , epithelium	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9001542	Albuminuria		ISO	RGD:1604556	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:17686814
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9002869	Schistosomiasis Mansoni	treatment	ISO	RGD:1621562	D	RGD:38596354|PMID:22882457	20200907	RGD			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9003470	Picornaviridae Infections		ISO	RGD:1621562	D	RGD:11085671|PMID:26100084	20200904	RGD		mRNA, protein:increased expression:lung,bronchoalveolar lavage fluid (mouse)	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9003470	Picornaviridae Infections		ISO	RGD:1621562	D	RGD:38596334|PMID:28701507	20200903	RGD		protein:increased expression:lung (mouse)	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9004055	Fungal Keratitis	disease_progression	ISO	RGD:1621562	D	RGD:38549371|PMID:29550278	20200901	RGD			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9004055	Fungal Keratitis	disease_progression	ISO	RGD:1621562	D	RGD:38549574|PMID:30853520	20200902	RGD			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9004055	Fungal Keratitis	treatment	ISO	RGD:1621562	D	RGD:730466411|PMID:38593508	20260603	RGD			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9004092	cryoglobulinemic vasculitis		ISO	RGD:1604556	D	RGD:38596329|PMID:25889007	20200903	RGD		associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human)	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1621562	D	RGD:38596335|PMID:26934097	20200903	RGD		protein:increased expression:peritoneum, plasma (mouse)	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:1621562	D	RGD:38549375|PMID:24990542	20200901	RGD			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1621562	D	RGD:11538612|PMID:26617780	20260603	RGD			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9005372	Inflammation		ISO	RGD:1604556	D	RGD:11554173	20170725	CTD		CTD Direct Evidence: therapeutic	PMID:28329851
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9006928	Viral Bronchiolitis	severity	ISO	RGD:1604556	D	RGD:38596342|PMID:28471975	20200904	RGD		mRNA, protein:increased expression:nasal mucus (human)	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9006966	Pseudomonas Aeruginosa Keratitis	severity	ISO	RGD:1621562	D	RGD:38596331|PMID:30128494	20200903	RGD			
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9009382	eosinophilic chronic rhinosinusitis		ISO	RGD:1604556	D	RGD:11085923|PMID:26095319	20260603	RGD		associated with chronic rhinosinusitis with nasal polyps;mRNA,protein:increased expression:mucosa of ethmoidal sinus, epithelial cell, lamina propria	
1586479	Tslp	thymic stromal lymphopoietin	gene	DOID:9784	trichinosis	disease_progression	ISO	RGD:1621562	D	RGD:38596337|PMID:23024277	20200904	RGD			
1586482	Gxylt2	glucoside xylosyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1625085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586482	Gxylt2	glucoside xylosyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1625085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586482	Gxylt2	glucoside xylosyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1625085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586482	Gxylt2	glucoside xylosyltransferase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1625085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586482	Gxylt2	glucoside xylosyltransferase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1625085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1586482	Gxylt2	glucoside xylosyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586482	Gxylt2	glucoside xylosyltransferase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1625085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
1586482	Gxylt2	glucoside xylosyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1625085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586487	Smim45	small integral membrane protein 45	gene	DOID:1115	sarcoma		ISO	RGD:6892816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:1063	interstitial nephritis		ISO	RGD:1353511	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10385480
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1618405	D	RGD:4891417|PMID:11134301	20110112	RGD		mRNA:increased expression:lung	
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1353511	D	RGD:4145472|PMID:19865101	20150406	RGD		DNA:SNP:3' utr:c.*136G>A (rs3136682) (human)	
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2527	nephrosis		IEP		D	RGD:4891422|PMID:10867541	20110112	RGD			
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2841	asthma		ISO	RGD:1353511	D	RGD:4891420|PMID:20455898	20110112	RGD		protein:increased expression:respiratory system fluid/secretion	
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:289	endometriosis		ISO	RGD:1353511	D	RGD:11554173	20190910	CTD		CTD Direct Evidence: marker/mechanism	PMID:30579999
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2921	glomerulonephritis		IEP		D	RGD:8693624|PMID:11157384	20110112	RGD			
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:1353511	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:10385480
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1618405	D	RGD:30309221|PMID:15356152	20200619	RGD		mRNA: increased expression:lung (mouse)	
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1618405	D	RGD:4891409|PMID:18703681	20110112	RGD		mRNA:increased expression:lung, dendritic cell	
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1353511	D	RGD:4891408|PMID:19057661	20110112	RGD		DNA:SNP: :multiple (human)	
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1353511	D	RGD:4891410|PMID:16864713	20110112	RGD		DNA:SNP:enhancer:rs2282691 (human)	
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:1353511	D	RGD:4891408|PMID:19057661	20110112	RGD		DNA:SNP: :rs159294, rs210837, rs10491110 (human)	
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:4483	rhinitis		ISO	RGD:1353511	D	RGD:4145109|PMID:17982926	20110112	RGD		mRNA:increased expression:nasal cavity epithelium	
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1353511	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:22507635
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1618405	D	RGD:11344640|PMID:26569409	20210421	RGD		mRNA:increased expression:liver (mouse)	
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1353511	D	RGD:4891418|PMID:20598643	20110112	RGD		associated with Sinusitis	
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:1618405	D	RGD:4145441|PMID:12600821	20110112	RGD		associated with Schistosomiasis mansoni	
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		IEP		D	RGD:4145472|PMID:19865101	20150406	RGD		mRNA:decreased expression:lymph node	
1586495	Ccl1	C-C motif chemokine ligand 1	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:1618405	D	RGD:4891412|PMID:12707363	20110112	RGD		associated with Asthma	
1586501	C19h16orf46	similar to human chromosome 16 open reading frame 46	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586501	C19h16orf46	similar to human chromosome 16 open reading frame 46	gene	DOID:10534	stomach cancer		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586501	C19h16orf46	similar to human chromosome 16 open reading frame 46	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
1586501	C19h16orf46	similar to human chromosome 16 open reading frame 46	gene	DOID:1909	melanoma		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586501	C19h16orf46	similar to human chromosome 16 open reading frame 46	gene	DOID:3275	thymoma		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586501	C19h16orf46	similar to human chromosome 16 open reading frame 46	gene	DOID:4362	cervical cancer		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586501	C19h16orf46	similar to human chromosome 16 open reading frame 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586501	C19h16orf46	similar to human chromosome 16 open reading frame 46	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1586501	C19h16orf46	similar to human chromosome 16 open reading frame 46	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586501	C19h16orf46	similar to human chromosome 16 open reading frame 46	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586501	C19h16orf46	similar to human chromosome 16 open reading frame 46	gene	DOID:9256	colorectal cancer		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
1586533	Asb17	ankyrin repeat and SOCS box-containing 17	gene	DOID:1909	melanoma		ISO	RGD:1343895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586539	Tvp23b	trans-golgi network vesicle protein 23 homolog B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586539	Tvp23b	trans-golgi network vesicle protein 23 homolog B	gene	DOID:1115	sarcoma		ISO	RGD:1314909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586539	Tvp23b	trans-golgi network vesicle protein 23 homolog B	gene	DOID:3275	thymoma		ISO	RGD:1314909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586539	Tvp23b	trans-golgi network vesicle protein 23 homolog B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1586539	Tvp23b	trans-golgi network vesicle protein 23 homolog B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586539	Tvp23b	trans-golgi network vesicle protein 23 homolog B	gene	DOID:6039	uveal melanoma		ISO	RGD:1314909	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1586539	Tvp23b	trans-golgi network vesicle protein 23 homolog B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1586539	Tvp23b	trans-golgi network vesicle protein 23 homolog B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586551	Brap	BRCA1 associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586551	Brap	BRCA1 associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586551	Brap	BRCA1 associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1586551	Brap	BRCA1 associated protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
1586551	Brap	BRCA1 associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586551	Brap	BRCA1 associated protein	gene	DOID:5844	myocardial infarction		ISO	RGD:1348068	D	RGD:11554173	20161020	CTD		CTD Direct Evidence: marker/mechanism	PMID:19198608
1586551	Brap	BRCA1 associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
1586551	Brap	BRCA1 associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586551	Brap	BRCA1 associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:10283	prostate cancer		ISO	RGD:1320080	D	RGD:8554872	20171114	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:10283	prostate cancer		ISO	RGD:1320080	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aganglionic megacolon	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:11476	osteoporosis		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic disorder	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320080	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto thyroiditis	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:9000495	Tremor		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:9007692	Insulin Resistance	susceptibility	ISO	RGD:1320081	D	RGD:1642731|PMID:17351624	20071010	RGD			
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1320080	D	RGD:1642744|PMID:11532984	20071011	RGD		DNA:SNP: :p.T228A (human)	
1586598	Sorbs1	sorbin and SH3 domain containing 1	gene	DOID:9970	obesity		ISO	RGD:1320080	D	RGD:1642744|PMID:11532984	20071011	RGD		DNA:SNP: :p.T228A (human)	
1586605	Ccdc13	coiled-coil domain containing 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586605	Ccdc13	coiled-coil domain containing 13	gene	DOID:1115	sarcoma		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
1586605	Ccdc13	coiled-coil domain containing 13	gene	DOID:1324	lung cancer		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
1586605	Ccdc13	coiled-coil domain containing 13	gene	DOID:3275	thymoma		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
1586605	Ccdc13	coiled-coil domain containing 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
1586605	Ccdc13	coiled-coil domain containing 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586605	Ccdc13	coiled-coil domain containing 13	gene	DOID:6039	uveal melanoma		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
1586605	Ccdc13	coiled-coil domain containing 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
1586605	Ccdc13	coiled-coil domain containing 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
1586621	Gapt	Grb2-binding adaptor protein, transmembrane	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
1586621	Gapt	Grb2-binding adaptor protein, transmembrane	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1316413	D	RGD:8554872	20190611	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:25741868
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:22473935|PMID:25741868|PMID:25960145|PMID:28492532
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1316413	D	RGD:8554872	20180612	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	PMID:25741868
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1316413	D	RGD:8554872	20210608	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:25741868|PMID:28492532
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:25741868|PMID:28492532|PMID:30236257
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:23919265|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30611313
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0060249	scoliosis		ISO	RGD:1316413	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:15731587|PMID:16621918|PMID:16732084|PMID:16835904|PMID:16917943|PMID:17483490|PMID:19191333|PMID:19685112|PMID:20142353|PMID:21282829|PMID:21455645|PMID:22992668|PMID:23558838|PMID:25658027|PMID:25741868|PMID:25960145|PMID:26381711|PMID:26467025|PMID:28492532|PMID:30236257|PMID:31517061|PMID:36833224
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0060260	ptosis		ISO	RGD:1316413	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30236257
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0060319	cardiac arrest		ISO	RGD:1316413	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:25741868|PMID:28492532
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:1316413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES	PMID:18414213|PMID:20681998|PMID:22473935|PMID:23394784|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24950660|PMID:25214167|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25958340|PMID:25960145|PMID:26019235|PMID:26332594|PMID:26467025|PMID:28259615|PMID:28492532|PMID:29701772|PMID:30611313|PMID:30932294|PMID:31206373|PMID:31517061|PMID:32236737|PMID:33726816|PMID:33767344|PMID:34008892|PMID:35428369|PMID:35948506|PMID:36628841|PMID:37643885
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1316413	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0070056	autosomal dominant intellectual developmental disorder 26		ISO	RGD:1316413	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26	PMID:11575529|PMID:12565913|PMID:1354642|PMID:15448513|PMID:18564801|PMID:19346234|PMID:19648156|PMID:19890226|PMID:19931341|PMID:20461000|PMID:23558838|PMID:23919265|PMID:25741868|PMID:27855725|PMID:27857962|PMID:28492532|PMID:30236257|PMID:6917943|PMID:9334205|PMID:9873004
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0070272	hereditary nonpolyposis colorectal cancer type 5		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5	PMID:11709545|PMID:16917943|PMID:17204937|PMID:21118704|PMID:25741868|PMID:28492532|PMID:35081925|PMID:35428369|PMID:36283893
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1316413	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:11575529|PMID:12565913|PMID:1354642|PMID:15448513|PMID:18564801|PMID:19346234|PMID:19648156|PMID:19890226|PMID:19931341|PMID:20461000|PMID:23558838|PMID:23919265|PMID:25741868|PMID:27855725|PMID:27857962|PMID:28492532|PMID:30236257|PMID:6917943|PMID:9334205|PMID:9873004
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0080000	muscular disease		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: muscle disorder	
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0080073	spina bifida occulta		ISO	RGD:1316413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	PMID:16621918|PMID:16732084|PMID:16835904|PMID:16917943|PMID:17483490|PMID:19685112|PMID:20142353|PMID:21282829|PMID:22992668|PMID:23558838|PMID:25741868|PMID:25960145|PMID:26381711|PMID:28492532
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35599849|PMID:36208971|PMID:36628841|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25944380|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37937776|PMID:4149045|PMID:7299413
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy 4A, autosomal dominant | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37937776|PMID:4149045|PMID:7299413
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20250218	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25637381|PMID:25658027|PMID:2567381|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:26972305|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27452334|PMID:27545679|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27854218|PMID:27855725|PMID:27857962|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29701772|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31107960|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31851124|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32236737|PMID:32304219|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33037202|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34707284|PMID:35081925|PMID:35178478|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35549722|PMID:35599849|PMID:35627144|PMID:35697689|PMID:36208971|PMID:36283893|PMID:36474027|PMID:36628841|PMID:36757698|PMID:36939041|PMID:37273706|PMID:37510298|PMID:37541188|PMID:37712079|PMID:37937776|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20250218	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004
1586637	Ryr1	ryanodine receptor 1	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1316413	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMI
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